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
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
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
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
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
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
3:100014010-100014010 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
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
7:2412349-2412349 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
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	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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
3:142268377-142268377 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
8:28210805-28210805 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
2:26410996-26410996 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
17:15516939-15516939 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
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
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
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
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
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
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
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
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
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
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
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
14:92909140-92909140 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
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
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
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
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
11:74998405-74998405 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
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
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: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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
2:32730200-32730200 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
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
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
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
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
1:243858913-243858913 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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	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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
2:85043192-85043192 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
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
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
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
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
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
2:113943552-113943552 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1:247492561-247492561 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
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
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
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
1:26135580-26135580 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1:247473692-247473692 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
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
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
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
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
1:235972532-235972532 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
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
2:122106215-122106215 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
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
1:27092825-27092825 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1:169094161-169094161 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
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
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
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
15:68653990-68653990 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
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
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
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
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
2:70515313-70515313 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
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
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
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
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
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
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
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
2:74642502-74642502 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
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
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
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
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
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
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
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
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
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
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
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
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
11:46726649-46726649 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
17:3928361-3928361 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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	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
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
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
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
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
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
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
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
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
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
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
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
17:33687286-33687286 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
9:134003775-134003775 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
17:19850794-19850794 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
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
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
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
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
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
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
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
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
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
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
1:247024356-247024356 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
3:105258914-105258914 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
10:43280965-43280965 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
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
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
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
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
12:49425353-49425353 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1:39920725-39920725 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
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
1:204942470-204942470 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
1:209797190-209797190 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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: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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
7:84629132-84629132 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
6:139264705-139264705 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
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
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
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
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
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
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
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
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
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
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
6:74104827-74104827 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
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
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
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
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
1:113662058-113662058 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1:94652129-94652129 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
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
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
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
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
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
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
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
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
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
12:78513190-78513190 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
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
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
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
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
10:129914758-129914758 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
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
1:16095070-16095070 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
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
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
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
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
4:113353153-113353153 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
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
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
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
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
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
9:127912080-127912080 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
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
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
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
19:50824024-50824024 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
5:178310049-178310049 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
4:153269853-153269853 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
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
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
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
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
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
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
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
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
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
17:7127020-7127020 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
4:138452557-138452557 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
11:134131235-134131235 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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: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
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
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
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
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
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
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
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
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
3:49044919-49044919 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
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
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
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
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
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
20:34143853-34143853 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
6:157505561-157505561 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1:152189004-152189004 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
10:108521404-108521404 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
19:15651457-15651457 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
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
6:38994399-38994399 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
3:99569271-99569271 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
5:118970410-118970410 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
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
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
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
17:47656157-47656157 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
16:30750372-30750372 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
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
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
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
5:38506168-38506168 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
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
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
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
3:43618636-43618636 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
2:130832757-130832757 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
19:39329617-39329617 ->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
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
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
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
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
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
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
15:25924663-25924663 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
11:43348148-43348148 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
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
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
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
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
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
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
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
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
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
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
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
6:165827113-165827113 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
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
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
8:95502281-95502281 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1:10725553-10725553 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
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
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
2:64796776-64796778 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
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
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
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
1:244574626-244574626 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1:215822048-215822048 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
2:21260975-21260975 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
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
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
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
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
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
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
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
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
2:189434788-189434788 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
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
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
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
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
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
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
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
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
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
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
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
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
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
10:15256479-15256479 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
2:237233383-237233383 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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: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
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
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
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
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
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
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
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
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
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
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
1:157659596-157659596 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
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
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
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
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
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
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
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
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
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
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
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
12:52774154-52774154 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
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
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
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
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
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
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
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
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	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
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
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
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
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
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
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
2:175268912-175268912 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
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
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
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
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
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
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
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
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
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	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
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
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
12:58131815-58131815 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
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
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
4:113539801-113539801 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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	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
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
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
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
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
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
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
9:95772594-95772594 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
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
19:17115116-17115116 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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: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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
6:30864578-30864578 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
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
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
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
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
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
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
10:3197885-3197885 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
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
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
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
1:200868691-200868691 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
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
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
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
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
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
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
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
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
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
3:195250513-195250513 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
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
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
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
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
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
3:49725021-49725021 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
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
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
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
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
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
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
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
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
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
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
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
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
6:42796870-42796870 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
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
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
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
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
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
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
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
8:142186723-142186723 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
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
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	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
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
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
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
1:235955383-235955383 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
2:39931334-39931334 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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: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
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
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
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
16:75670354-75670354 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
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
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
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
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
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
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
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
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
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
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
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
19:10431550-10431550 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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	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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
2:216916245-216916245 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
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
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
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
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
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
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
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
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
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
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
19:55494319-55494319 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
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
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
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
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
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
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
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
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
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
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
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
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
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
11:6644247-6644247 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
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
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
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
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
17:78081609-78081609 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
17:15975524-15975524 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
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
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
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
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
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
1:41474527-41474527 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
19:57089898-57089898 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
17:78858811-78858811 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
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
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
22:31007004-31007004 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
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
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
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
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
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
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
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
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
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
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
6:33156813-33156813 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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	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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1:38272581-38272581 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
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
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
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
2:125204405-125204405 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
11:59992499-59992499 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
19:22575266-22575266 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
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
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
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
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
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
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
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
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
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
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
6:69758172-69758172 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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	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
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
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
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
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
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
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
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
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
7:135333167-135333167 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
2:148653983-148653983 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
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
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
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
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
11:120744821-120744821 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
6:36938207-36938207 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
1:63329684-63329684 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
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
16:5135701-5135701 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
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
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
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
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
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
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
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
1:53320240-53320240 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
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
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
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
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
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
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
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
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
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
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
1:32745698-32745698 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
5:176764405-176764405 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
7:97482421-97482421 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
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
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
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
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
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
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
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
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
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
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
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
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
1:22191538-22191538 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
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
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
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
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
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
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
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
14:103593551-103593551 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
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
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
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
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
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
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
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
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
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
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
7:81603794-81603794 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
15:72020900-72020900 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
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
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: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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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	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
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
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
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
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
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
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
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
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
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
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
4:5620363-5620363 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1:11182146-11182146 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
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
1:46489651-46489651 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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	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
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
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
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
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
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
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
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
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
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
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
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
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
13:23932587-23932587 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
3:13612535-13612535 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
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
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
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
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
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
8:21844658-21844689 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
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
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
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
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
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
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	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
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
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
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
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
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
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
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
20:44638617-44638617 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
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
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
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
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
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
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
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
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
19:42874433-42874433 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
9:125487149-125487161 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
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
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
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
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
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
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
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
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
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
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
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
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
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: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
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
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
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
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
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
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
3:169546620-169546620 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
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
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
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
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	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
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
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
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
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
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
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
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
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
12:131488763-131488763 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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	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: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
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
1:91859811-91859811 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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	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
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
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
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
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
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
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
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
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
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
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
4:110606519-110606519 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
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
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
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
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
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
14:20020135-20020135 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
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
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
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
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
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
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
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: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
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
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
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
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
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
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
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
2:99012481-99012481 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1:68591929-68591929 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
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
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
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
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
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
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
2:71909728-71909728 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
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
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
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
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
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
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
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
2:38301661-38301661 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
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
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
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
11:6561133-6561133 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
17:20000007-20000007 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: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
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
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
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
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
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
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
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
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
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
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
11:55703216-55703216 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
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
9:104432734-104432734 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
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
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
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
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
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
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
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
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
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
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
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
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	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
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
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
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
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
3:126071131-126071131 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
18:70417417-70417417 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
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
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
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
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
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
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
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
2:1161295-1161295 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
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
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
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
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
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
14:74370745-74370768 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
10:50028330-50028330 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
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
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
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
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
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
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
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
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
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
5:23524619-23524619 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
2:191524491-191524491 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
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
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
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
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
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
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
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	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
2:219129286-219129286 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
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
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
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
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
22:38130881-38130881 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
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
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
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
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
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
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
19:11493888-11493888 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
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
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
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
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
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
5:89923114-89923114 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
3:138665224-138665224 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
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
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
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
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
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
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
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
19:53270609-53270609 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
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
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
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
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
7:100228651-100228651 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1:156911739-156911739 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
2:242738553-242738553 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
12:118465775-118465775 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
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
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
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
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
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
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
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
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
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
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
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
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
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	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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
7:89793972-89793972 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	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
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
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
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
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
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
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
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	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
2:54874276-54874276 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
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
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
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
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
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
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
7:99367804-99367804 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1:170521235-170521235 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
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
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
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
11:111853103-111853103 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
4:39328219-39328219 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
16:4936010-4936010 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
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
16:65016072-65016072 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
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
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
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
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
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
12:123200483-123200483 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
7:88963897-88963897 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
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
11:116707116-116707116 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
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
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
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
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
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
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
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
1:182554693-182554693 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
3:186262111-186262111 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
9:131395119-131395119 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
6:134493375-134493375 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
1:247464342-247464342 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
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
12:44770391-44770391 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
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
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
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
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
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
1:207737268-207737268 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
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
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
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
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
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
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
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
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
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
16:69783240-69783240 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
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
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
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
1:19201897-19201897 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
17:57676116-57676116 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
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
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
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
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
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
6:28097613-28097613 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
3:194313778-194313778 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
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
8:121500491-121500491 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
2:219255961-219255961 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
3:43389259-43389259 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
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
11:64824895-64824895 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
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
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
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
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
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
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
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
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
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
7:148768038-148768038 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
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
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
22:42189882-42189882 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
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
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
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
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
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
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
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
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
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
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
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
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
1:76877984-76877984 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
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
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
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
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
2:21229725-21229725 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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: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
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
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
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
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
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
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
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
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
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
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
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
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
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