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
X:152037407-152037407 C>T	1.0	3703	MELANOMA	-	-	-	-	NSDHL	NM_001129765,p.A290V|ENST00000440023,p.A290V|ENST00000370274,p.A290V|uc004fgs.1,p.A290V|NM_015922,p.A290V|uc004fgt.1,p.A290V	protein_coding	uc004fgt.1	nonsynonymous SNV	exon9	c.C869T	p.A290V	FLSRILTGLNYEAPKYHIPYWVAYY	FLSRILTGLNYEVPKYHIPYWVAYY	6.0	2.0	CD8	-	3703_X:152037407-152037407 C>T_FLSRILTGLNYEVPKYHIPYWVAYY
1:237947421-237947421 G>A	1.0	3703	MELANOMA	-	-	ID=COSM464208;OCCURENCE=1(kidney),1(large_intestine)	-	RYR2	ENST00000360064,p.E4143K|NM_001035,p.E4137K|ENST00000366574,p.E4137K|uc010pya.2,p.E552K|uc001hyl.1,p.E4137K|ENST00000542537,p.E4121K	protein_coding, processed_transcript	uc010pya.2	nonsynonymous SNV	exon16	c.G1654A	p.E552K	VLNYFQPFLGRIEIMGSAKRIERVY	VLNYFQPFLGRIKIMGSAKRIERVY	9.0	6.0	-	-	3703_1:237947421-237947421 G>A_VLNYFQPFLGRIKIMGSAKRIERVY
4:44693752-44693752 C>T	1.0	3703	MELANOMA	-	-	-	-	GUF1	uc003gww.4,p.P517S|NM_021927,p.P517S|ENST00000281543,p.P517S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003gww.4	nonsynonymous SNV	exon13	c.C1549T	p.P517S	IDQNRVMLKYLFPLNEIVVDFYDSL	IDQNRVMLKYLFSLNEIVVDFYDSL	9.0	7.0	-	-	3703_4:44693752-44693752 C>T_IDQNRVMLKYLFSLNEIVVDFYDSL
6:132179870-132179870 C>T	1.0	3703	MELANOMA	-	-	-	-	ENPP1	NM_006208,p.H260Y|uc011ecf.2,p.H260Y|ENST00000360971,p.H260Y|ENST00000513998,p.H260Y	retained_intron, protein_coding, nonsense_mediated_decay	uc011ecf.2	nonsynonymous SNV	exon7	c.C778T	p.H260Y	MRPVYPTKTFPNHYSIVTGLYPESH	MRPVYPTKTFPNYYSIVTGLYPESH	9.0	5.0	-	-	3703_6:132179870-132179870 C>T_MRPVYPTKTFPNYYSIVTGLYPESH
19:30313020-30313020 T>C	1.0	3703	MELANOMA	-	-	-	1	CCNE1	NM_001238,p.F275L|uc002nsn.3,p.F275L|ENST00000262643,p.F275L|ENST00000357943,p.F232L|ENST00000444983,p.F260L|uc002nso.3,p.F260L	retained_intron, protein_coding	uc002nso.3	nonsynonymous SNV	exon7	c.T778C	p.F260L	HEVLLPQYPQQIFIQIAELLDLCVL	HEVLLPQYPQQILIQIAELLDLCVL	7.0	6.0	CD8	-	3703_19:30313020-30313020 T>C_HEVLLPQYPQQILIQIAELLDLCVL
2:43927739-43927739 C>T	1.0	3703	MELANOMA	-	-	-	-	PLEKHH2	NM_172069,p.P548S|uc002rtf.3,p.P547S|uc010yny.2,p.P548S|ENST00000282406,p.P548S|uc002rte.3,p.P548S	retained_intron, protein_coding, nonsense_mediated_decay	uc010yny.2	nonsynonymous SNV	exon8	c.C1642T	p.P548S	YSKPPTPPLHRFPSWESRIYAVAKS	YSKPPTPPLHRFSSWESRIYAVAKS	8.0	9.0	-	-	3703_2:43927739-43927739 C>T_YSKPPTPPLHRFSSWESRIYAVAKS
19:58152816-58152816 C>T	1.0	3703	MELANOMA	-	-	-	-	ZNF211	ENST00000391703,p.S260L|ENST00000299871,p.S386L|uc031rnh.1,p.S373L|NM_001265597,p.S386L|ENST00000544273,p.S333L|uc002qpq.2,p.S321L|uc002qpt.2,p.S333L|NM_001265598,p.S373L|uc010yhd.2,p.S260L|ENST00000240731,p.S334L|ENST00000254182,p.S312L|uc031rng.1,p.S386L|NM_001265600,p.S260L|NM_198855,p.S321L|uc010yhb.1,p.S325L|uc002qpr.2,p.S385L|ENST00000541801,p.S312L|uc010yhe.2,p.S312L|ENST00000420680,p.S325L|ENST00000347302,p.S321L|uc010yhc.1,p.S333L|uc002qpp.2,p.S334L|NM_006385,p.S334L|NM_001265599,p.S312L	retained_intron, protein_coding, nonsense_mediated_decay	uc031rnh.1	nonsynonymous SNV	exon4	c.C1118T	p.S373L	GERPYACPECGKSFSQIYSLNSHRK	GERPYACPECGKLFSQIYSLNSHRK	7.0	4.0	-	-	3703_19:58152816-58152816 C>T_GERPYACPECGKLFSQIYSLNSHRK
17:7660411-7660411 C>T	1.0	3703	MELANOMA	-	-	-	-	DNAH2	NM_020877,p.S636F|uc002giu.1,p.S636F|ENST00000572933,p.S636F|ENST00000389173,p.S636F	retained_intron, protein_coding, nonsense_mediated_decay	uc002giu.1	nonsynonymous SNV	exon12	c.C1907T	p.S636F	EKAGMLDVNFDKSLLILFAEIDYWE	EKAGMLDVNFDKFLLILFAEIDYWE	9.0	7.0	-	-	3703_17:7660411-7660411 C>T_EKAGMLDVNFDKFLLILFAEIDYWE
19:3527805-3527805 C>T	1.0	3703	MELANOMA	-	-	-	-	FZR1	ENST00000441788,p.T216I|ENST00000395095,p.T216I|uc010dtk.2,p.T216I|uc002lxt.2,p.T216I|NM_016263,p.T216I|NM_001136198,p.T216I|ENST00000591290,p.T216I	retained_intron, protein_coding, nonsense_mediated_decay	uc010dtk.2	nonsynonymous SNV	exon6	c.C647T	p.T216I	GLGTCVYLWSACTSQVTRLCDLSVE	GLGTCVYLWSACISQVTRLCDLSVE	8.0	7.0	-	-	3703_19:3527805-3527805 C>T_GLGTCVYLWSACISQVTRLCDLSVE
4:153247304-153247304 G>A	1.0	3703	MELANOMA	-	-	-	1	FBXW7	uc003imt.3,p.H500Y|ENST00000281708,p.H500Y|ENST00000603548,p.H500Y|NM_001013415,p.H382Y|ENST00000296555,p.H382Y|NM_033632,p.H500Y|ENST00000393956,p.H324Y|uc011cii.2,p.H500Y|ENST00000263981,p.H420Y|uc003imr.3,p.H382Y|uc003ims.3,p.H500Y|ENST00000603841,p.H500Y|uc003imq.3,p.H420Y|uc011cih.2,p.H324Y|NM_018315,p.H420Y	protein_coding	uc011cii.2	nonsynonymous SNV	exon11	c.C1498T	p.H500Y	IETGQCLHVLMGHVAAVRCVQYDGR	IETGQCLHVLMGYVAAVRCVQYDGR	5.0	10.0	-	-	3703_4:153247304-153247304 G>A_IETGQCLHVLMGYVAAVRCVQYDGR
1:63894447-63894447 T>A	1.0	3703	MELANOMA	-	-	-	-	ALG6	uc021oof.1,p.W368R|ENST00000371108,p.W368R|ENST00000263440,p.W370R|NM_013339,p.W368R|uc010oox.2,p.W115R	protein_coding, processed_transcript	uc021oof.1	nonsynonymous SNV	exon13	c.T1102A	p.W368R	CLVLSEIPFMSTWFLLVSTFSMLPL	CLVLSEIPFMSTRFLLVSTFSMLPL	8.0	2.0	-	-	3703_1:63894447-63894447 T>A_CLVLSEIPFMSTRFLLVSTFSMLPL
X:129045770-129045770 C>T	1.0	3703	MELANOMA	-	-	-	-	UTP14A	NM_006649,p.T137I|ENST00000394422,p.T137I|uc004euz.3,p.T137I|ENST00000371051,p.T83I|uc011muq.2,p.T83I	protein_coding, processed_transcript	uc011muq.2	nonsynonymous SNV	exon5	c.C248T	p.T83I	IERIHREVAFNKTAQVLSKWDPVVL	IERIHREVAFNKIAQVLSKWDPVVL	8.0	7.0	-	-	3703_X:129045770-129045770 C>T_IERIHREVAFNKIAQVLSKWDPVVL
9:96429453-96429453 C>T	1.0	3703	MELANOMA	-	-	-	-	PHF2	ENST00000359246,p.S760L|uc004auc.3,p.S180L|uc011lug.1,p.S643L|NM_005392,p.S760L|uc004aub.3,p.S760L	protein_coding	uc011lug.1	nonsynonymous SNV	exon17	c.C1928T	p.S643L	GRNARVKKESGSSAAGILDLLQASE	GRNARVKKESGSLAAGILDLLQASE	6.0	8.0	-	-	3703_9:96429453-96429453 C>T_GRNARVKKESGSLAAGILDLLQASE
14:57741132-57741132 C>T	1.0	3703	MELANOMA	-	-	-	-	AP5M1	NM_018229,p.S82F|uc001xcv.3,p.S82F|uc001xcu.4,p.S82F|ENST00000431972,p.S96F|ENST00000261558,p.S82F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xcv.3	nonsynonymous SNV	exon2	c.C245T	p.S82F	ESRDSCSRINKTSIYGLLIGGEELW	ESRDSCSRINKTFIYGLLIGGEELW	9.0	4.0	-	-	3703_14:57741132-57741132 C>T_ESRDSCSRINKTFIYGLLIGGEELW
20:25203498-25203498 C>T	1.0	3703	MELANOMA	-	-	-	-	ENTPD6	uc002wuk.2,p.A356V|uc002wul.2,p.A356V|uc010ztb.1,p.A329V|uc010zsz.1,p.A139V|uc010zta.1,p.A357V|uc002wum.2,p.A340V|ENST00000354989,p.A340V|NM_001247,p.A357V|NM_001114089,p.A340V|uc002wuo.2,p.A109V|ENST00000360031,p.A356V|ENST00000376652,p.A357V|uc010ztc.1,p.A329V|uc002wuj.2,p.A357V	protein_coding, processed_transcript	uc010ztc.1	nonsynonymous SNV	exon11	c.C986T	p.A329V	GQKAAASLHELCAARVSEVLQNRVH	GQKAAASLHELCVARVSEVLQNRVH	10.0	4.0	-	-	3703_20:25203498-25203498 C>T_GQKAAASLHELCVARVSEVLQNRVH
20:25203498-25203498 C>T	1.0	3703	MELANOMA	-	-	-	-	ENTPD6	ENST00000433259,p.A323V|uc010ztd.1,p.A105V	protein_coding, processed_transcript	uc010ztd.1	nonsynonymous SNV	exon8	c.C314T	p.A105V	EGQPAASLHELCAARVSEVLQNRVH	EGQPAASLHELCVARVSEVLQNRVH	10.0	4.0	-	-	3703_20:25203498-25203498 C>T_EGQPAASLHELCVARVSEVLQNRVH
8:141572558-141572558 G>A	1.0	3703	MELANOMA	-	-	-	-	AGO2	uc003yvn.3,p.S171F|NM_012154,p.S171F|ENST00000519980,p.S171F|uc010men.3,p.S94F|NM_001164623,p.S171F|uc010meo.3,p.S171F|ENST00000220592,p.S171F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010meo.3	nonsynonymous SNV	exon4	c.C512T	p.S171F	IQALDVVMRHLPSMRYTPVGRSFFT	IQALDVVMRHLPFMRYTPVGRSFFT	8.0	5.0	-	-	3703_8:141572558-141572558 G>A_IQALDVVMRHLPFMRYTPVGRSFFT
16:53358296-53358296 G>A	1.0	3703	MELANOMA	-	-	-	-	CHD9	uc002ehc.3,p.G2713E|uc002egy.3,p.G2712E|uc002ehb.3,p.G2728E|ENST00000398510,p.G2728E|uc010cbw.3,p.G794E|NM_025134,p.G2712E|ENST00000566029,p.G2712E|ENST00000564845,p.G2712E|ENST00000447540,p.G2713E|uc002ehf.3,p.G1826E|uc002ehg.2,p.G1843E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cbw.3	nonsynonymous SNV	exon18	c.G2381A	p.G794E	SGMAGLPNLLGMGGLLTKPTESGTE	SGMAGLPNLLGMEGLLTKPTESGTE	10.0	8.0	-	-	3703_16:53358296-53358296 G>A_SGMAGLPNLLGMEGLLTKPTESGTE
11:61643392-61643392 G>A	1.0	3703	MELANOMA	-	-	-	-	FADS3	ENST00000527697,p.S291L|ENST00000525588,p.S378L|ENST00000278829,p.S406L|NM_021727,p.S406L|uc001nsm.3,p.S406L	retained_intron, protein_coding, processed_transcript	uc001nsm.3	nonsynonymous SNV	exon11	c.C1217T	p.S406L	RHNYSRVAPLVKSLCAKHGLSYEVK	RHNYSRVAPLVKLLCAKHGLSYEVK	8.0	9.0	CD8	-	3703_11:61643392-61643392 G>A_RHNYSRVAPLVKLLCAKHGLSYEVK
12:94634386-94634386 C>T	1.0	3703	MELANOMA	-	-	-	-	PLXNC1	ENST00000258526,p.S749F|NM_005761,p.S749F|uc001tdc.3,p.S749F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tdc.3	nonsynonymous SNV	exon11	c.C2246T	p.S749F	FDGGNCSSVGSLSYIALPHCSLIFP	FDGGNCSSVGSLFYIALPHCSLIFP	10.0	3.0	-	-	3703_12:94634386-94634386 C>T_FDGGNCSSVGSLFYIALPHCSLIFP
12:49918674-49918674 C>T	1.0	3703	MELANOMA	-	-	ID=COSM3416896;OCCURENCE=1(large_intestine)	-	SPATS2	uc001rud.2,p.R441W|NM_001293285,p.R441W|ENST00000321898,p.R441W|uc001ruf.2,p.R441W|uc009zli.1,p.R441W|ENST00000553127,p.R441W|ENST00000552918,p.R441W|NM_023071,p.R441W|NM_001293286,p.R441W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zli.1	nonsynonymous SNV	exon14	c.C1321T	p.R441W	IANSSGQPYQPLREVLPGNRRGGQG	IANSSGQPYQPLWEVLPGNRRGGQG	10.0	3.0	-	-	3703_12:49918674-49918674 C>T_IANSSGQPYQPLWEVLPGNRRGGQG
1:20987434-20987434 G>A	1.0	3703	MELANOMA	-	-	-	-	DDOST	NM_005216,p.L86F|uc001bdo.1,p.L86F|ENST00000464364,p.L69F|ENST00000602624,p.L69F|ENST00000375048,p.L86F	protein_coding, processed_transcript	uc001bdo.1	nonsynonymous SNV	exon2	c.C256T	p.L86F	LTFKTADDPSLSLIKYGEFLYDNLI	LTFKTADDPSLSFIKYGEFLYDNLI	10.0	7.0	-	-	3703_1:20987434-20987434 G>A_LTFKTADDPSLSFIKYGEFLYDNLI
2:118582670-118582670 C>T	1.0	3703	MELANOMA	-	-	-	-	DDX18	NM_006773,p.A454V|ENST00000263239,p.A454V|uc002tlh.1,p.A454V|ENST00000415038,p.A118V	retained_intron, protein_coding, processed_transcript	uc002tlh.1	nonsynonymous SNV	exon9	c.C1361T	p.A454V	YELLNYIDLPVLAIHGKQKQNKRTT	YELLNYIDLPVLVIHGKQKQNKRTT	10.0	5.0	-	-	3703_2:118582670-118582670 C>T_YELLNYIDLPVLVIHGKQKQNKRTT
2:118864324-118864324 C>T	1.0	3703	MELANOMA	-	-	ID=COSM1399027;OCCURENCE=1(large_intestine)	-	INSIG2	ENST00000411929,p.S8L	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000411929	nonsynonymous SNV	exon3	c.C23T	p.S8L	MPVLKWISITTYSCLSHWLH	MPVLKWILITTYSCLSHWLH	6.0	10.0	unscreened	-	3703_2:118864324-118864324 C>T_MPVLKWILITTYSCLSHWLH
13:75863075-75863075 A>T	1.0	3703	MELANOMA	-	-	-	-	TBC1D4	NM_001286659,p.L1157I|NM_001286658,p.L1212I|uc010aes.2,p.L1157I|ENST00000425511,p.L384I|uc010thu.1,p.L377I|ENST00000377625,p.L1157I|ENST00000431480,p.L1212I|ENST00000377636,p.L1220I|uc001vjl.1,p.L1220I|NM_014832,p.L1220I|uc010aer.2,p.L1212I|uc010tht.1,p.L430I	protein_coding, processed_transcript	uc010thu.1	nonsynonymous SNV	exon8	c.T1129A	p.L377I	QLKRQNMDLLEKLQVAHTKIQALES	QLKRQNMDLLEKIQVAHTKIQALES	10.0	5.0	-	-	3703_13:75863075-75863075 A>T_QLKRQNMDLLEKIQVAHTKIQALES
12:64202671-64202676 GTCCAT>-	1.0	3703	MELANOMA	-	-	-	-	TMEM5	ENST00000537373,p.117_119del|NM_001278237,p.117_119del|ENST00000261234,p.377_379del|uc001srq.2,p.377_379del|uc001srs.2,p.117_119del|NM_014254,p.377_379del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc001srs.2	nonframeshift deletion	exon6	c.351_356del	p.117_119del	TSVHHGAPLQLLKSMGAPFIFIKNW	TSVHHGAPLQLLKGAPFIFIKNWKE	9.0	3.0	-	-	3703_12:64202671-64202676 GTCCAT>-_TSVHHGAPLQLLKGAPFIFIKNWKE
8:17823531-17823531 C>T	1.0	3703	MELANOMA	-	-	-	1	PCM1	ENST00000325083,p.S960L|ENST00000519253,p.S960L|NM_006197,p.S960L|uc003wyi.4,p.S960L|ENST00000524226,p.S961L|uc003wyj.4,p.S961L|uc011kyh.2,p.S960L|uc022asj.1,p.S999L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022asj.1	nonsynonymous SNV	exon18	c.C2996T	p.S999L	ETKNRWKNNCPFSADENYRPLAKTR	ETKNRWKNNCPFLADENYRPLAKTR	10.0	3.0	-	-	3703_8:17823531-17823531 C>T_ETKNRWKNNCPFLADENYRPLAKTR
12:113745603-113745603 G>A	1.0	3703	MELANOMA	-	-	ID=COSM3456416;OCCURENCE=1(large_intestine)	-	SLC8B1	ENST00000546737,p.A379V|NM_024959,p.A435V|ENST00000202831,p.A435V|uc001tvb.3,p.A173V|uc001tuz.3,p.A140V|uc001tvc.3,p.A435V|ENST00000552014,p.A435V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tvc.3	nonsynonymous SNV	exon13	c.C1304T	p.A435V	FLGFLTSALWINAAATEVVNILRSL	FLGFLTSALWINVAATEVVNILRSL	6.0	7.0	-	-	3703_12:113745603-113745603 G>A_FLGFLTSALWINVAATEVVNILRSL
7:97493627-97493627 G>A	1.0	3703	MELANOMA	-	-	-	-	ASNS	NM_001178076,p.P61L|ENST00000455086,p.P61L|ENST00000175506,p.P144L|uc003uot.4,p.P144L|uc011kio.2,p.P123L|ENST00000454046,p.P144L|ENST00000444334,p.P123L|uc003uou.4,p.P144L|uc003uox.4,p.P61L|ENST00000437657,p.P144L|ENST00000394309,p.P144L|NM_183356,p.P144L|NM_001178075,p.P123L|uc003uov.4,p.P144L|uc011kin.2,p.P61L|ENST00000442734,p.P144L|NM_001673,p.P144L|ENST00000394308,p.P144L|NM_133436,p.P144L|NM_001178077,p.P61L|ENST00000422745,p.P123L|ENST00000437628,p.P61L	retained_intron, protein_coding, nonsense_mediated_decay	uc011kio.2	nonsynonymous SNV	exon4	c.C368T	p.P123L	KVFLGRDTYGVRPLFKAMTEDGFLA	KVFLGRDTYGVRLLFKAMTEDGFLA	9.0	10.0	-	-	3703_7:97493627-97493627 G>A_KVFLGRDTYGVRLLFKAMTEDGFLA
8:22355571-22355571 C>T	1.0	3703	MELANOMA	-	-	ID=COSM1221817;OCCURENCE=1(large_intestine)	-	PPP3CC	NM_001243974,p.R144W|uc003xbt.3,p.R144W|ENST00000518852,p.R144W|ENST00000240139,p.R144W|NM_001243975,p.R144W|uc011kzi.2,p.R144W|ENST00000397775,p.R144W|uc003xbs.3,p.R144W|NM_005605,p.R144W|uc003xbr.2,p.R144W|ENST00000289963,p.R144W	protein_coding	uc011kzi.2	nonsynonymous SNV	exon4	c.C430T	p.R144W	LKINHPKTLFLLRGNHECRHLTDYF	LKINHPKTLFLLWGNHECRHLTDYF	8.0	5.0	-	-	3703_8:22355571-22355571 C>T_LKINHPKTLFLLWGNHECRHLTDYF
X:112033944-112033944 G>A	0.0	3703	MELANOMA	-	-	-	-	AMOT	uc004epr.3,p.R665W|ENST00000524145,p.R665W|ENST00000371959,p.R665W|NM_133265,p.R256W|ENST00000371962,p.R433W|uc004eps.3,p.R256W|ENST00000371958,p.R433W|NM_001113490,p.R665W|ENST00000304758,p.R256W	protein_coding, processed_transcript	uc004eps.3	nonsynonymous SNV	exon8	c.C766T	p.R256W	SEYNAAALMELLREKEERILALEAD	SEYNAAALMELLWEKEERILALEAD	6.0	1.0	-	-	3703_X:112033944-112033944 G>A_SEYNAAALMELLWEKEERILALEAD
12:51586157-51586157 G>A	1.0	3703	MELANOMA	-	-	-	-	POU6F1	ENST00000333640,p.P116L|uc001rya.3,p.P116L|uc001rxz.3,p.P116L|uc001rxy.3,p.P116L|ENST00000550824,p.P116L|NM_002702,p.P116L|ENST00000389243,p.P116L	protein_coding, processed_transcript	uc001rya.3	nonsynonymous SNV	exon9	c.C347T	p.P116L	APAAKPSASAPIPITCSETPTVSQL	APAAKPSASAPILITCSETPTVSQL	6.0	6.0	-	-	3703_12:51586157-51586157 G>A_APAAKPSASAPILITCSETPTVSQL
15:78757601-78757601 C>T	0.0	3703	MELANOMA	-	-	-	-	IREB2	NM_004136,p.P94L|uc002bdq.3,p.P94L|uc002bdr.2,p.P94L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bdr.2	nonsynonymous SNV	exon4	c.C281T	p.P94L	PARVLLQDFTGIPAMVDFAAMREAV	PARVLLQDFTGILAMVDFAAMREAV	9.0	2.0	-	-	3703_15:78757601-78757601 C>T_PARVLLQDFTGILAMVDFAAMREAV
19:17442127-17442127 G>A	1.0	3703	MELANOMA	-	-	-	-	ANO8	ENST00000159087,p.A227V|uc002ngf.2,p.A227V|NM_020959,p.A227V|ENST00000597643,p.A227V	retained_intron, protein_coding, nonsense_mediated_decay	uc002ngf.2	nonsynonymous SNV	exon6	c.C680T	p.A227V	RILNRLMKSWVQAVCENQPLDDICD	RILNRLMKSWVQVVCENQPLDDICD	5.0	7.0	-	-	3703_19:17442127-17442127 G>A_RILNRLMKSWVQVVCENQPLDDICD
17:40620064-40620064 C>T	1.0	3703	MELANOMA	-	-	-	-	ATP6V0A1	NM_005177,p.P78L|uc002hzr.3,p.P78L|NM_001130020,p.P78L|ENST00000585525,p.P78L|ENST00000343619,p.P78L|ENST00000546249,p.P78L|ENST00000587824,p.P78L|ENST00000393829,p.P78L|ENST00000537728,p.P78L|ENST00000589213,p.P78L|uc010wgk.2,p.P78L|ENST00000264649,p.P78L|uc010wgj.2,p.P78L|uc002hzp.1,p.P78L|uc002hzs.3,p.P78L|NM_001130021,p.P78L|uc002hzq.3,p.P78L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wgk.2	nonsynonymous SNV	exon4	c.C233T	p.P78L	RFVEKEIRKANIPIMDTGENPEVPF	RFVEKEIRKANILIMDTGENPEVPF	8.0	5.0	-	-	3703_17:40620064-40620064 C>T_RFVEKEIRKANILIMDTGENPEVPF
7:155094485-155094485 C>T	1.0	3703	MELANOMA	-	-	-	-	INSIG1	uc011kvu.2,p.R93C|ENST00000344756,p.R93C|ENST00000340368,p.R245C|NM_005542,p.R245C|NM_198336,p.R93C|uc003wly.3,p.R245C	retained_intron, protein_coding	uc011kvu.2	nonsynonymous SNV	exon4	c.C277T	p.R93C	VYQYTSPDFLYIRSWLPCIFFSGGV	VYQYTSPDFLYICSWLPCIFFSGGV	9.0	6.0	-	-	3703_7:155094485-155094485 C>T_VYQYTSPDFLYICSWLPCIFFSGGV
6:110107591-110107591 C>T	1.0	3703	MELANOMA	0.0005	-	-	-	FIG4	NM_014845,p.R679W|uc011eau.1,p.R402W|uc003ptt.2,p.R679W|ENST00000441478,p.R402W|ENST00000230124,p.R679W	protein_coding	uc011eau.1	nonsynonymous SNV	exon13	c.C1204T	p.R402W	YEEEIDIHNEFFRPYELSSFDDTFC	YEEEIDIHNEFFWPYELSSFDDTFC	6.0	5.0	-	-	3703_6:110107591-110107591 C>T_YEEEIDIHNEFFWPYELSSFDDTFC
3:134079079-134079079 C>T	1.0	3703	MELANOMA	-	-	-	-	AMOTL2	uc003eqe.1,p.M209I|ENST00000249883,p.M584I|ENST00000514516,p.M642I|NM_016201,p.M584I|ENST00000422605,p.M584I|ENST00000513145,p.M582I|NM_001278685,p.M582I|uc003eqg.1,p.M584I|uc003eqh.1,p.M582I|uc003eqf.2,p.M642I|NM_001278683,p.M642I	retained_intron, protein_coding, processed_transcript	uc003eqh.1	nonsynonymous SNV	exon7	c.G1746A	p.M582I	KYLEERAMRQFAMDAAATAAAQRDT	KYLEERAMRQFAIDAAATAAAQRDT	6.0	10.0	-	-	3703_3:134079079-134079079 C>T_KYLEERAMRQFAIDAAATAAAQRDT
3:105404212-105404212 G>A	1.0	3703	MELANOMA	-	-	-	1	CBLB	ENST00000405772,p.S718F|ENST00000264122,p.S718F|ENST00000403724,p.S718F|ENST00000394027,p.S740F|uc011bhi.2,p.S740F|uc003dwc.3,p.S718F|uc003dwd.2,p.S718F|uc003dwe.2,p.S718F|ENST00000394030,p.S101F|NM_170662,p.S718F	retained_intron, protein_coding	uc011bhi.2	nonsynonymous SNV	exon14	c.C2219T	p.S740F	DDEYKIPSSHPVSLNSQPSHCHNVK	DDEYKIPSSHPVFLNSQPSHCHNVK	6.0	9.0	-	-	3703_3:105404212-105404212 G>A_DDEYKIPSSHPVFLNSQPSHCHNVK
2:232326634-232326634 G>A	1.0	3703	MELANOMA	-	-	-	-	NCL	ENST00000417652,p.P61L|uc002vru.3,p.P77L|ENST00000453992,p.P61L|ENST00000454824,p.P61L|NM_005381,p.P77L|ENST00000322723,p.P77L|ENST00000436894,p.P61L	retained_intron, protein_coding	uc002vru.3	nonsynonymous SNV	exon3	c.C230T	p.P77L	VVSPTKKVAVATPAKKAAVTPGKKA	VVSPTKKVAVATLAKKAAVTPGKKA	10.0	2.0	-	-	3703_2:232326634-232326634 G>A_VVSPTKKVAVATLAKKAAVTPGKKA
7:138713490-138713490 T>C	1.0	3703	MELANOMA	-	-	-	-	ZC3HAV1L	ENST00000275766,p.T240A|uc003vum.1,p.T240A|NM_080660,p.T240A	protein_coding	uc003vum.1	nonsynonymous SNV	exon3	c.A718G	p.T240A	NIPSVVNFQIISTYKHMKLHKMLEN	NIPSVVNFQIISAYKHMKLHKMLEN	9.0	10.0	-	-	3703_7:138713490-138713490 T>C_NIPSVVNFQIISAYKHMKLHKMLEN
8:2976104-2976104 C>T	1.0	3703	MELANOMA	-	-	-	-	CSMD1	NM_033225,p.E2083K|ENST00000542608,p.E2083K|uc022aqr.1,p.E2083K|ENST00000400186,p.E2084K|ENST00000537824,p.E2083K|ENST00000602723,p.E2084K|ENST00000602557,p.E2084K|uc011kwj.2,p.E1476K|uc010lrg.3,p.E152K|ENST00000520002,p.E2084K	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon42	c.G6247A	p.E2083K	NRQGFKLAYQAYELQNCPDPPPFQN	NRQGFKLAYQAYKLQNCPDPPPFQN	6.0	3.0	-	-	3703_8:2976104-2976104 C>T_NRQGFKLAYQAYKLQNCPDPPPFQN
4:79399090-79399090 G>A	1.0	3703	MELANOMA	-	-	-	-	FRAS1	NM_025074,p.G2658E|uc003hlb.2,p.G2658E|ENST00000264895,p.G2658E	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlb.2	nonsynonymous SNV	exon55	c.G7973A	p.G2658E	TVELSMPAYALLGEFTQAKVIINDT	TVELSMPAYALLEEFTQAKVIINDT	5.0	3.0	-	-	3703_4:79399090-79399090 G>A_TVELSMPAYALLEEFTQAKVIINDT
12:50043558-50043558 G>T	1.0	3703	MELANOMA	-	-	-	-	FMNL3	ENST00000550488,p.F717L|NM_198900,p.F666L|uc001rut.1,p.F283L|NM_175736,p.F717L|ENST00000335154,p.F717L|uc001ruw.1,p.F666L|uc001ruv.1,p.F717L|ENST00000293590,p.F717L|ENST00000352151,p.F666L|uc001ruu.1,p.F567L	retained_intron, protein_coding, processed_transcript	uc001ruw.1	nonsynonymous SNV	exon17	c.C1998A	p.F666L	EELAAEDRFMLLFSKVERLTQRMAG	EELAAEDRFMLLLSKVERLTQRMAG	7.0	8.0	-	-	3703_12:50043558-50043558 G>T_EELAAEDRFMLLLSKVERLTQRMAG
4:56885642-56885642 C>T	1.0	3703	MELANOMA	-	-	ID=COSM420565;OCCURENCE=1(urinary_tract)	-	CEP135	NM_025009,p.H1046Y|uc003hbj.4,p.H752Y|ENST00000257287,p.H1046Y|uc003hbi.4,p.H1046Y	retained_intron, protein_coding	uc003hbj.4	nonsynonymous SNV	exon16	c.C2254T	p.H752Y	ESLLATNRDKEFHSHLTSHEKDTEI	ESLLATNRDKEFYSHLTSHEKDTEI	7.0	9.0	-	-	3703_4:56885642-56885642 C>T_ESLLATNRDKEFYSHLTSHEKDTEI
3:160942813-160942813 C>T	1.0	3703	MELANOMA	-	-	-	-	NMD3	uc003fec.3,p.P47L|ENST00000463518,p.P47L|uc003feb.1,p.P47L|ENST00000472947,p.P47L|ENST00000351193,p.P47L|NM_015938,p.P47L|uc003fed.1,p.P47L|ENST00000468606,p.P47L|ENST00000493066,p.P47L|ENST00000476237,p.P47L|ENST00000460503,p.P47L|ENST00000460469,p.P47L	retained_intron, protein_coding, processed_transcript	uc003fed.1	nonsynonymous SNV	exon2	c.C140T	p.P47L	CLRSKVDISQGIPKQVSISFCKQCQ	CLRSKVDISQGILKQVSISFCKQCQ	8.0	6.0	-	-	3703_3:160942813-160942813 C>T_CLRSKVDISQGILKQVSISFCKQCQ
X:70472882-70472882 C>T	0.0	3703	MELANOMA	-	-	-	2	ZMYM3	NM_001171163,p.G75E|ENST00000373984,p.G75E|ENST00000373998,p.G75E|ENST00000373981,p.G75E|ENST00000353904,p.G75E|NM_001171162,p.G75E|ENST00000314425,p.G75E|uc004dzl.4,p.G75E|NM_201599,p.G75E|ENST00000373978,p.G75E|ENST00000373982,p.G75E|uc004dzi.2,p.G75E|NM_005096,p.G75E|ENST00000373988,p.G75E|uc004dzh.2,p.G75E|uc004dzj.2,p.G75E	protein_coding, processed_transcript	uc004dzl.4	nonsynonymous SNV	exon2	c.G224A	p.G75E	PAGLEKDPGVLDGATELLGLGGLLY	PAGLEKDPGVLDEATELLGLGGLLY	7.0	10.0	-	-	3703_X:70472882-70472882 C>T_PAGLEKDPGVLDEATELLGLGGLLY
17:25628924-25628924 T>G	1.0	3703	MELANOMA	-	-	-	-	WSB1	ENST00000583742,p.W41G|uc002gzd.1,p.W51G|NM_015626,p.W51G|ENST00000582208,p.W51G|ENST00000581440,p.W58G|ENST00000581185,p.W51G|uc010vzy.1,p.W51G|ENST00000262394,p.W51G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vzy.1	nonsynonymous SNV	exon2	c.T151G	p.W51G	TVAFAPDGSYFAWSQGHRTVKLVPW	TVAFAPDGSYFAGSQGHRTVKLVPW	10.0	6.0	-	-	3703_17:25628924-25628924 T>G_TVAFAPDGSYFAGSQGHRTVKLVPW
17:25628924-25628924 T>G	1.0	3703	MELANOMA	-	-	-	-	WSB1	uc010vzz.1,p.W20G|ENST00000427287,p.W20G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vzz.1	nonsynonymous SNV	exon2	c.T58G	p.W20G	VNEKEIDGSYFAWSQGHRTVKLVPW	VNEKEIDGSYFAGSQGHRTVKLVPW	10.0	6.0	-	-	3703_17:25628924-25628924 T>G_VNEKEIDGSYFAGSQGHRTVKLVPW
1:247065900-247065900 A>T	1.0	3703	MELANOMA	-	-	-	-	AHCTF1	NM_015446,p.N357K|ENST00000326225,p.N357K|ENST00000391829,p.N348K|ENST00000366508,p.N383K|uc001ibv.2,p.N357K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ibv.2	nonsynonymous SNV	exon8	c.T1071A	p.N357K	TGGMFPLRGQTSNTKLLGCQSIEKF	TGGMFPLRGQTSKTKLLGCQSIEKF	10.0	9.0	-	-	3703_1:247065900-247065900 A>T_TGGMFPLRGQTSKTKLLGCQSIEKF
3:160942812-160942812 C>T	1.0	3703	MELANOMA	-	-	-	-	NMD3	ENST00000460469,p.P47S|uc003feb.1,p.P47S|ENST00000468606,p.P47S|uc003fed.1,p.P47S|ENST00000460503,p.P47S|uc003fec.3,p.P47S|ENST00000351193,p.P47S|ENST00000493066,p.P47S|ENST00000472947,p.P47S|ENST00000463518,p.P47S|NM_015938,p.P47S|ENST00000476237,p.P47S	retained_intron, protein_coding, processed_transcript	uc003fed.1	nonsynonymous SNV	exon2	c.C139T	p.P47S	CLRSKVDISQGIPKQVSISFCKQCQ	CLRSKVDISQGISKQVSISFCKQCQ	8.0	7.0	unscreened	-	3703_3:160942812-160942812 C>T_CLRSKVDISQGISKQVSISFCKQCQ
11:3845364-3845364 C>T	1.0	3703	MELANOMA	-	-	-	-	PGAP2	ENST00000396993,p.H93Y|ENST00000532523,p.H158Y|uc010qyb.3,p.H143Y|uc031pyp.1,p.H114Y|ENST00000465307,p.H143Y|NM_001283039,p.H181Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pyp.1	nonsynonymous SNV	exon3	c.C340T	p.H114Y	ASAHLCLLLRGLHHPRKCFHCVHCL	ASAHLCLLLRGLYHPRKCFHCVHCL	6.0	6.0	-	-	3703_11:3845364-3845364 C>T_ASAHLCLLLRGLYHPRKCFHCVHCL
3:2942419-2942419 G>A	1.0	3703	MELANOMA	-	-	-	-	CNTN4	NM_001206955,p.E331K|ENST00000418658,p.E331K|uc003bpd.1,p.E331K|uc021wsg.1,p.E331K|ENST00000358480,p.E112K|ENST00000397461,p.E331K|NM_175607,p.E331K|uc003bpc.3,p.E331K|ENST00000427331,p.E331K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wsg.1	nonsynonymous SNV	exon10	c.G991A	p.E331K	IQKINDIHVAMEENVFWECKANGRP	IQKINDIHVAMEKNVFWECKANGRP	5.0	9.0	-	-	3703_3:2942419-2942419 G>A_IQKINDIHVAMEKNVFWECKANGRP
9:93636979-93636979 G>A	1.0	3703	MELANOMA	-	-	-	1	SYK	ENST00000375751,p.M320I|NM_001135052,p.M320I|uc004aqz.3,p.M343I|NM_001174168,p.M320I|uc004arc.3,p.M343I|uc004ara.3,p.M320I|ENST00000375754,p.M343I|ENST00000375747,p.M320I|uc004arb.3,p.M320I|NM_003177,p.M343I|NM_001174167,p.M343I|ENST00000375746,p.M343I	protein_coding, processed_transcript	uc004arc.3	nonsynonymous SNV	exon9	c.G1029A	p.M343I	AADKGPQREALPMDTEVYESPYADP	AADKGPQREALPIDTEVYESPYADP	7.0	8.0	-	-	3703_9:93636979-93636979 G>A_AADKGPQREALPIDTEVYESPYADP
1:6635078-6635078 G>A	1.0	3703	MELANOMA	-	-	-	-	TAS1R1	uc001ant.3,p.V296M|ENST00000333172,p.V296M|NM_138697,p.V296M|ENST00000328191,p.V296M|uc021ofp.1,p.V218M	protein_coding	uc021ofp.1	nonsynonymous SNV	exon2	c.G652A	p.V218M	FESVVLTNLTGKVWVASEAWALSRH	FESVVLTNLTGKMWVASEAWALSRH	5.0	3.0	-	-	3703_1:6635078-6635078 G>A_FESVVLTNLTGKMWVASEAWALSRH
2:233677153-233677153 G>A	1.0	3703	MELANOMA	-	-	-	-	GIGYF2	uc010zml.1,p.D518N|ENST00000373563,p.D687N|NM_001103146,p.D687N|NM_015575,p.D687N|uc010zmj.1,p.D687N|ENST00000440945,p.D681N|uc002vtg.2,p.D681N|ENST00000452341,p.D518N|uc002vtj.4,p.D708N|ENST00000409480,p.D709N|ENST00000373566,p.D709N|uc002vtk.4,p.D687N|uc002vth.4,p.D681N|NM_001103147,p.D708N|ENST00000409547,p.D687N|NM_001103148,p.D681N|ENST00000409451,p.D708N|uc002vti.4,p.D687N|ENST00000409196,p.D681N|ENST00000423659,p.D630N|uc002vtq.4,p.D20N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zml.1	nonsynonymous SNV	exon12	c.G1552A	p.D518N	IIPSVTRSVSVPDTGSIWELQPTAS	IIPSVTRSVSVPNTGSIWELQPTAS	10.0	2.0	-	-	3703_2:233677153-233677153 G>A_IIPSVTRSVSVPNTGSIWELQPTAS
19:39914532-39914532 C>T	1.0	3703	MELANOMA	-	-	-	-	PLEKHG2	uc010xuy.2,p.S861F|uc010xva.2,p.S698F|ENST00000409794,p.S920F|NM_022835,p.S920F|uc010xuz.2,p.S920F|ENST00000458508,p.S861F|ENST00000425673,p.S891F	retained_intron, protein_coding	uc010xva.2	nonsynonymous SNV	exon15	c.C2093T	p.S698F	QGGSPDGQGLHVSNLPKQDLPGIHV	QGGSPDGQGLHVFNLPKQDLPGIHV	6.0	10.0	-	-	3703_19:39914532-39914532 C>T_QGGSPDGQGLHVFNLPKQDLPGIHV
X:101910948-101910948 A>G	0.0	3703	MELANOMA	-	-	-	-	GPRASP1	uc010nod.3,p.I703V|ENST00000444152,p.I703V|uc004eji.4,p.I703V|NM_014710,p.I703V|NM_001184727,p.I703V|NM_001099411,p.I703V|uc022cbc.1,p.I703V|ENST00000537097,p.I703V|uc022cbd.1,p.I703V|ENST00000361600,p.I703V|NM_001099410,p.I703V|ENST00000415986,p.I703V|uc004ejj.4,p.I703V	protein_coding, processed_transcript	uc022cbd.1	nonsynonymous SNV	exon1	c.A2107G	p.I703V	GSWKSRPEEEEDIVNSWFWSRKYTK	GSWKSRPEEEEDVVNSWFWSRKYTK	6.0	10.0	-	-	3703_X:101910948-101910948 A>G_GSWKSRPEEEEDVVNSWFWSRKYTK
6:74227972-74227972 G>A	1.0	3703	MELANOMA	-	-	-	-	EEF1A1	ENST00000316292,p.H349Y|uc003phj.3,p.H349Y|ENST00000309268,p.H349Y|uc003phi.3,p.H349Y|ENST00000331523,p.H349Y|NM_001402,p.H349Y	retained_intron, protein_coding, processed_transcript	uc003phj.3	nonsynonymous SNV	exon7	c.C1045T	p.H349Y	AAGFTAQVIILNHPGQISAGYAPVL	AAGFTAQVIILNYPGQISAGYAPVL	10.0	8.0	-	-	3703_6:74227972-74227972 G>A_AAGFTAQVIILNYPGQISAGYAPVL
13:96543157-96543157 G>A	1.0	3703	MELANOMA	-	-	-	-	UGGT2	uc001vmu.1,p.P60S|ENST00000376747,p.P973S|NM_020121,p.P973S|uc001vmt.3,p.P973S	retained_intron, protein_coding, processed_transcript	uc001vmu.1	nonsynonymous SNV	exon3	c.C178T	p.P60S	NDMFFNVIAIVDPLTREAQKMAQLL	NDMFFNVIAIVDSLTREAQKMAQLL	9.0	5.0	-	-	3703_13:96543157-96543157 G>A_NDMFFNVIAIVDSLTREAQKMAQLL
20:50139794-50139794 G>A	1.0	3703	MELANOMA	-	-	-	1	NFATC2	NM_173091,p.P329L|uc010zyy.3,p.P110L|NM_001258292,p.P309L|NM_001258297,p.P110L|NM_001258295,p.P110L|uc010zyz.3,p.P110L|NM_001258294,p.P110L|NM_001136021,p.P309L|ENST00000396009,p.P329L|uc010zyx.3,p.P309L|uc010zyw.3,p.P110L|uc002xwc.4,p.P329L|NM_001258296,p.P110L|ENST00000414705,p.P309L|uc010zyv.3,p.P110L|ENST00000371564,p.P329L|NM_012340,p.P329L|uc002xwe.4,p.P309L|uc002xwd.4,p.P329L	retained_intron, protein_coding	uc010zyz.3	nonsynonymous SNV	exon2	c.C329T	p.P110L	GIPPKMWKTSPDPSPVSAAPSKAGL	GIPPKMWKTSPDLSPVSAAPSKAGL	6.0	8.0	-	-	3703_20:50139794-50139794 G>A_GIPPKMWKTSPDLSPVSAAPSKAGL
16:71218869-71218869 C>T	1.0	3703	MELANOMA	-	-	ID=COSM140772,COSM140771;OCCURENCE=1(skin)	-	HYDIN	NM_017558,p.E54K|NM_001198543,p.E71K|uc021tkq.2,p.E54K|NM_001270974,p.E54K|ENST00000288168,p.E71K|uc031qwy.1,p.E54K|ENST00000541601,p.E71K|ENST00000448691,p.E54K|ENST00000393567,p.E54K|ENST00000321489,p.E54K|NM_001198542,p.E81K|uc002ezw.4,p.E71K|uc010vmd.2,p.E81K|ENST00000448089,p.E54K|uc010vmc.2,p.E71K|ENST00000393550,p.E54K|ENST00000538248,p.E81K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon3	c.G160A	p.E54K	VNRMLTPSEFLKEMSLTTEQRLAKT	VNRMLTPSEFLKKMSLTTEQRLAKT	4.0	2.0	-	-	3703_16:71218869-71218869 C>T_VNRMLTPSEFLKKMSLTTEQRLAKT
12:57493118-57493118 G>A	1.0	3703	MELANOMA	-	-	-	1	STAT6	uc009zpg.3,p.P666L|NM_001178081,p.P507L|uc009zpf.3,p.P617L|uc010srb.2,p.P507L|ENST00000537215,p.P507L|uc009zpe.3,p.P617L|ENST00000556155,p.P617L|uc001sna.3,p.P617L|uc010srd.2,p.P507L|NM_001178079,p.P617L|ENST00000454075,p.P617L|uc010src.2,p.P507L|NM_001178080,p.P507L|ENST00000543873,p.P617L|NM_001178078,p.P617L|NM_003153,p.P617L|ENST00000300134,p.P617L|ENST00000538913,p.P507L|ENST00000555318,p.P45L	retained_intron, protein_coding, nonsense_mediated_decay	uc010srd.2	nonsynonymous SNV	exon14	c.C1520T	p.P507L	RIRDLAQLKNLYPKKPKDEAFRSHY	RIRDLAQLKNLYLKKPKDEAFRSHY	10.0	7.0	-	-	3703_12:57493118-57493118 G>A_RIRDLAQLKNLYLKKPKDEAFRSHY
13:20224158-20224158 G>A	1.0	3703	MELANOMA	-	-	-	-	MPHOSPH8	uc001umg.3,p.R445K|ENST00000414242,p.R445K|ENST00000361479,p.R445K|uc001umh.3,p.R445K|NM_017520,p.R445K|uc001umi.3,p.R142K	protein_coding, processed_transcript	uc001umi.3	nonsynonymous SNV	exon3	c.G425A	p.R142K	KEPKGLKTLKEIRNAFDLFKLTPEE	KEPKGLKTLKEIKNAFDLFKLTPEE	9.0	10.0	-	-	3703_13:20224158-20224158 G>A_KEPKGLKTLKEIKNAFDLFKLTPEE
15:63131062-63131062 G>A	1.0	3703	MELANOMA	-	-	-	-	TLN2	uc010uic.2,p.G77E|ENST00000494733,p.G1390E	retained_intron, protein_coding, processed_transcript	uc010uic.2	nonsynonymous SNV	exon5	c.G230A	p.G77E	AGGKILLLERAAGNAVKRASDNLVR	AGGKILLLERAAENAVKRASDNLVR	6.0	9.0	-	-	3703_15:63131062-63131062 G>A_AGGKILLLERAAENAVKRASDNLVR
2:44547555-44547555 C>T	1.0	3703	MELANOMA	-	-	-	-	SLC3A1	uc002rue.4,p.S232L|ENST00000260649,p.S612L|uc002ruc.4,p.S612L|ENST00000409380,p.S334L|uc002rud.4,p.S334L|NM_000341,p.S612L|ENST00000409740,p.S243L	protein_coding	uc002rue.4	nonsynonymous SNV	exon4	c.C695T	p.S232L	GESTLLNLHNMISGLPAKMRIRLST	GESTLLNLHNMILGLPAKMRIRLST	1.0	4.0	-	-	3703_2:44547555-44547555 C>T_GESTLLNLHNMILGLPAKMRIRLST
16:840202-840202 G>A	1.0	3703	MELANOMA	-	-	-	-	CHTF18	ENST00000455171,p.R239Q|uc010uus.1,p.R211Q|uc002ckf.4,p.R239Q|ENST00000440239,p.R212Q|ENST00000317063,p.R408Q|ENST00000262315,p.R211Q|NM_022092,p.R211Q|uc002cke.4,p.R211Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uus.1	nonsynonymous SNV	exon5	c.G632A	p.R211Q	PGVQGSLLHVPWRGGGQLDLLGVSL	PGVQGSLLHVPWQGGGQLDLLGVSL	8.0	8.0	-	-	3703_16:840202-840202 G>A_PGVQGSLLHVPWQGGGQLDLLGVSL
17:74003575-74003575 G>A	1.0	3703	MELANOMA	-	-	-	-	EVPL	uc002jqi.2,p.T1904I|ENST00000301607,p.T1904I|uc010wss.1,p.T1926I|ENST00000586740,p.T1926I|uc010wst.1,p.T1374I|NM_001988,p.T1904I	retained_intron, protein_coding	uc010wst.1	nonsynonymous SNV	exon20	c.C4121T	p.T1374I	STQRLLNAQKAFTGIEDPVTKKRLS	STQRLLNAQKAFIGIEDPVTKKRLS	5.0	2.0	-	-	3703_17:74003575-74003575 G>A_STQRLLNAQKAFIGIEDPVTKKRLS
10:88260395-88260395 G>A	1.0	3703	MELANOMA	-	-	-	-	WAPAL	ENST00000298767,p.S202F|uc009xsw.3,p.S202F|uc001kdn.3,p.S245F|uc001kdo.3,p.S202F|NM_015045,p.S202F	protein_coding, processed_transcript	uc009xsw.3	nonsynonymous SNV	exon3	c.C605T	p.S202F	STKKPNAETTVASEIKETNDTWNSQ	STKKPNAETTVAFEIKETNDTWNSQ	7.0	10.0	-	-	3703_10:88260395-88260395 G>A_STKKPNAETTVAFEIKETNDTWNSQ
16:30096328-30096328 C>T	1.0	3703	MELANOMA	-	-	-	-	PPP4C	uc002dwe.3,p.P290L|ENST00000279387,p.P290L|uc002dwf.3,p.P290L|ENST00000561610,p.P290L|NM_002720,p.P290L	retained_intron, protein_coding, nonsense_mediated_decay	uc002dwf.3	nonsynonymous SNV	exon9	c.C869T	p.P290L	HLQKDFIIFEAAPQETRGIPSKKPV	HLQKDFIIFEAALQETRGIPSKKPV	9.0	8.0	-	-	3703_16:30096328-30096328 C>T_HLQKDFIIFEAALQETRGIPSKKPV
22:30735145-30735145 C>T	1.0	3703	MELANOMA	-	-	-	-	SF3A1	ENST00000215793,p.E491K|ENST00000439242,p.E426K|uc003ahl.3,p.E491K|uc021wnt.1,p.E426K|NM_005877,p.E491K	retained_intron, protein_coding, nonsense_mediated_decay	uc021wnt.1	nonsynonymous SNV	exon10	c.G1276A	p.E426K	VEETAIGKKIGEEEIQKPEEKVTWD	VEETAIGKKIGEKEIQKPEEKVTWD	10.0	8.0	-	-	3703_22:30735145-30735145 C>T_VEETAIGKKIGEKEIQKPEEKVTWD
1:113241403-113241403 G>A	1.0	3703	MELANOMA	-	-	-	-	MOV10	ENST00000369645,p.D859N|NM_001286072,p.D803N|ENST00000413052,p.D859N|NM_001130079,p.D859N|uc001eck.3,p.D859N|NM_020963,p.D859N|uc001ecn.3,p.D859N|ENST00000369644,p.D803N|ENST00000357443,p.D859N|uc001ecm.3,p.D799N	protein_coding, processed_transcript	uc001ecn.3	nonsynonymous SNV	exon17	c.G2575A	p.D859N	LDRELRGLDDIKDLKVGSVEEFQGQ	LDRELRGLDDIKNLKVGSVEEFQGQ	9.0	7.0	CD8	-	3703_1:113241403-113241403 G>A_LDRELRGLDDIKNLKVGSVEEFQGQ
12:58121490-58121490 G>A	1.0	3703	MELANOMA	-	-	-	-	AGAP2	ENST00000542466,p.E239K|uc001sps.4,p.E239K	protein_coding	uc001sps.4	nonsynonymous SNV	exon2	c.G715A	p.E239K	WHSLGAPQSTQIEFPLAFRIAWMAT	WHSLGAPQSTQIKFPLAFRIAWMAT	5.0	9.0	-	-	3703_12:58121490-58121490 G>A_WHSLGAPQSTQIKFPLAFRIAWMAT
11:133795732-133795732 G>C	1.0	3703	MELANOMA	-	-	-	-	IGSF9B	uc031qfh.1,p.R646G|ENST00000533871,p.R646G|uc001qgy.1,p.R488G|ENST00000321016,p.R646G|NM_001277285,p.R646G	protein_coding	uc031qfh.1	nonsynonymous SNV	exon14	c.C1936G	p.R646G	WLPPANHSFPIDRYIMEFRVAERWE	WLPPANHSFPIDGYIMEFRVAERWE	3.0	1.0	-	-	3703_11:133795732-133795732 G>C_WLPPANHSFPIDGYIMEFRVAERWE
1:1849869-1849869 G>A	0.0	3703	MELANOMA	-	-	-	-	TMEM52	ENST00000416272,p.L89F|ENST00000310991,p.L58F|NM_178545,p.L58F|uc001aij.2,p.L58F	retained_intron, protein_coding	uc001aij.2	nonsynonymous SNV	exon4	c.C172T	p.L58F	PQARWSSLWHVGLILLAVLLLLLCG	PQARWSSLWHVGFILLAVLLLLLCG	5.0	10.0	-	-	3703_1:1849869-1849869 G>A_PQARWSSLWHVGFILLAVLLLLLCG
1:16344347-16344347 C>T	1.0	3703	MELANOMA	-	-	-	-	HSPB7	uc001axo.2,p.D38N|ENST00000411503,p.D38N|uc001axq.2,p.D126N|ENST00000545268,p.D38N|uc001axr.2,p.D126N|NM_014424,p.D38N|ENST00000406363,p.D38N|uc001axp.2,p.D126N|ENST00000311890,p.D38N|ENST00000487046,p.D38N	retained_intron, protein_coding	uc001axr.2	nonsynonymous SNV	exon1	c.G376A	p.D126N	TSSSASRALPAQDPPMEKALSMFSD	TSSSASRALPAQNPPMEKALSMFSD	5.0	10.0	-	-	3703_1:16344347-16344347 C>T_TSSSASRALPAQNPPMEKALSMFSD
8:16021634-16021634 C>T	0.0	3703	MELANOMA	-	-	-	-	MSR1	ENST00000381998,p.D253N|ENST00000522672,p.D43N|uc003wwz.3,p.D253N|ENST00000262101,p.D253N|ENST00000536385,p.D27N|ENST00000355282,p.D253N|ENST00000350896,p.D253N|uc003wxa.3,p.D253N|uc011kxz.2,p.D27N|NM_138715,p.D253N|ENST00000445506,p.D271N|uc003wxb.3,p.D253N|uc010lsu.3,p.D271N|NM_138716,p.D253N|NM_002445,p.D253N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kxz.2	nonsynonymous SNV	exon3	c.G79A	p.D27N	KGEVKVLNNITNDLRLKDWEHSQTL	KGEVKVLNNITNNLRLKDWEHSQTL	8.0	7.0	-	-	3703_8:16021634-16021634 C>T_KGEVKVLNNITNNLRLKDWEHSQTL
12:28460621-28460621 G>A	1.0	3703	MELANOMA	-	-	-	-	CCDC91	ENST00000545336,p.G172D|ENST00000539107,p.G172D|uc001rip.1,p.G172D|ENST00000381259,p.G172D|ENST00000306172,p.G142D|uc001riq.3,p.G172D|ENST00000536442,p.G172D|NM_018318,p.G172D|uc001rio.3,p.G142D|ENST00000543809,p.G172D|ENST00000381256,p.G172D|ENST00000545737,p.G172D	protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc001riq.3	nonsynonymous SNV	exon5	c.G515A	p.G172D	ESLMEKHNVLEKGFLKEKEQEAISF	ESLMEKHNVLEKDFLKEKEQEAISF	9.0	8.0	-	-	3703_12:28460621-28460621 G>A_ESLMEKHNVLEKDFLKEKEQEAISF
4:69962467-69962467 T>C	0.0	3703	MELANOMA	-	-	-	-	UGT2B7	uc003heg.4,p.Y77H|NM_001074,p.Y77H|ENST00000508661,p.Y77H|ENST00000305231,p.Y77H|uc010ihq.3,p.Y77H	protein_coding, processed_transcript	uc010ihq.3	nonsynonymous SNV	exon1	c.T229C	p.Y77H	DPNNSSALKIEIYPTSLTKTELENF	DPNNSSALKIEIHPTSLTKTELENF	6.0	8.0	-	-	3703_4:69962467-69962467 T>C_DPNNSSALKIEIHPTSLTKTELENF
1:249142360-249142360 C>T	1.0	3703	MELANOMA	-	-	-	-	ZNF672	ENST00000306562,p.S296F|NM_024836,p.S296F|uc021pme.1,p.S296F|uc001iex.3,p.S296F	protein_coding, processed_transcript	uc021pme.1	nonsynonymous SNV	exon1	c.C887T	p.S296F	ACATCGKGFGQRSDLVVHQRIHTGE	ACATCGKGFGQRFDLVVHQRIHTGE	7.0	3.0	-	-	3703_1:249142360-249142360 C>T_ACATCGKGFGQRFDLVVHQRIHTGE
16:28506442-28506442 C>T	0.0	3703	MELANOMA	-	-	-	-	APOBR	uc002dqb.2,p.S27F|ENST00000564831,p.S27F|NM_018690,p.S27F|ENST00000431282,p.S27F|ENST00000328423,p.S27F	protein_coding	uc002dqb.2	nonsynonymous SNV	exon2	c.C80T	p.S27F	LRGALDSLGTFVSYLLGDAVPTVER	LRGALDSLGTFVFYLLGDAVPTVER	4.0	9.0	-	-	3703_16:28506442-28506442 C>T_LRGALDSLGTFVFYLLGDAVPTVER
16:30409370-30409370 G>A	1.0	3703	MELANOMA	-	-	-	-	ZNF48	uc021tgk.1,p.G267R|uc002dya.2,p.G267R|uc021tgj.1,p.G144R|NM_001214907,p.G144R|NM_152652,p.G267R|uc021tgi.1,p.G267R|NM_001214906,p.G267R|NM_001214909,p.G267R|ENST00000320159,p.G267R	protein_coding	uc021tgk.1	nonsynonymous SNV	exon3	c.G799A	p.G267R	RQPSRAATAATQGPKAQDKPYICTD	RQPSRAATAATQRPKAQDKPYICTD	4.0	3.0	-	-	3703_16:30409370-30409370 G>A_RQPSRAATAATQRPKAQDKPYICTD
1:29542534-29542534 G>A	1.0	3703	MELANOMA	-	-	-	-	MECR	ENST00000263702,p.P130L|uc001brq.1,p.P130L|NM_001024732,p.P54L|NM_016011,p.P130L|uc001brp.1,p.P54L|ENST00000373791,p.P54L|uc010ofz.1,p.P130L|uc001brt.1,p.P54L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ofz.1	nonsynonymous SNV	exon3	c.C389T	p.P130L	NVTGLKPGDWVIPANAGLGTWRTEA	NVTGLKPGDWVILANAGLGTWRTEA	6.0	6.0	-	-	3703_1:29542534-29542534 G>A_NVTGLKPGDWVILANAGLGTWRTEA
5:54281137-54281137 G>A	1.0	3703	MELANOMA	-	-	-	-	ESM1	NM_007036,p.S70L|uc010ivt.3,p.S70L|ENST00000381405,p.S70L|uc003jpk.3,p.S70L|ENST00000381403,p.S70L|ENST00000601836,p.S70L|NM_001135604,p.S70L	protein_coding, processed_transcript	uc010ivt.3	nonsynonymous SNV	exon1	c.C209T	p.S70L	AAGRGETCYRTVSGMDGMKCGPGLR	AAGRGETCYRTVLGMDGMKCGPGLR	8.0	6.0	-	-	3703_5:54281137-54281137 G>A_AAGRGETCYRTVLGMDGMKCGPGLR
7:140453136-140453136 A>T	1.0	3703	MELANOMA	-	-	ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system)	1	BRAF	ENST00000479537,p.V28E|uc003vwc.4,p.V600E|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	8.0	-	-	3703_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ
11:86123499-86123499 G>A	1.0	3703	MELANOMA	-	-	-	-	CCDC81	uc010rtq.2,p.R213Q|NM_001156474,p.R430Q|ENST00000528728,p.R165Q|uc001pby.2,p.R165Q|uc001pbw.2,p.R340Q|ENST00000354755,p.R340Q|ENST00000278487,p.R165Q|ENST00000445632,p.R430Q|NM_021827,p.R340Q|uc001pbx.2,p.R430Q	retained_intron, protein_coding	uc010rtq.2	nonsynonymous SNV	exon7	c.G638A	p.R213Q	PALNALKQEEYSRSLLKQMDNRQEN	PALNALKQEEYSQSLLKQMDNRQEN	6.0	1.0	-	-	3703_11:86123499-86123499 G>A_PALNALKQEEYSQSLLKQMDNRQEN
X:10188760-10188760 G>A	1.0	3703	MELANOMA	-	-	ID=COSM1315080;OCCURENCE=1(urinary_tract)	-	CLCN4	uc011mid.3,p.E585K|ENST00000380829,p.E648K|uc004csy.4,p.E679K|ENST00000421085,p.E585K|NM_001830,p.E679K|ENST00000380833,p.E679K|NM_001256944,p.E585K	protein_coding	uc011mid.3	nonsynonymous SNV	exon10	c.G1753A	p.E585K	GIVSNSIMYFTEEPPELPANSPHPL	GIVSNSIMYFTEKPPELPANSPHPL	4.0	7.0	-	-	3703_X:10188760-10188760 G>A_GIVSNSIMYFTEKPPELPANSPHPL
X:70787861-70787861 G>A	0.0	3703	MELANOMA	-	-	-	-	OGT	uc004eaa.2,p.R954Q|ENST00000373701,p.R944Q|NM_181673,p.R944Q|ENST00000373719,p.R954Q|uc004eac.3,p.R815Q|uc004ead.3,p.R573Q|NM_181672,p.R954Q|uc004eab.2,p.R944Q	retained_intron, protein_coding, processed_transcript	uc004ead.3	nonsynonymous SNV	exon16	c.G1718A	p.R573Q	PMVTMPGETLASRVAASQLTCLGCL	PMVTMPGETLASQVAASQLTCLGCL	10.0	2.0	-	-	3703_X:70787861-70787861 G>A_PMVTMPGETLASQVAASQLTCLGCL
15:42115750-42115750 C>T	1.0	3703	MELANOMA	0.0005	-	-	-	MAPKBP1	uc010bck.3,p.P452L|uc010bcl.3,p.P742L|uc010bcj.3,p.P742L|uc001zoj.4,p.P1235L|ENST00000456763,p.P1241L|ENST00000221214,p.P1118L|uc001zok.4,p.P1241L|ENST00000457542,p.P1235L|ENST00000260357,p.P1074L|uc010udb.2,p.P1074L|NM_001128608,p.P1241L|NM_014994,p.P1235L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010udb.2	nonsynonymous SNV	exon27	c.C3221T	p.P1074L	DGLGSLPPADGRPSRPHSYQNPTTS	DGLGSLPPADGRLSRPHSYQNPTTS	8.0	8.0	-	-	3703_15:42115750-42115750 C>T_DGLGSLPPADGRLSRPHSYQNPTTS
1:159779306-159779306 C>T	1.0	3703	MELANOMA	-	-	ID=COSM107836;OCCURENCE=1(skin)	-	FCRL6	ENST00000368106,p.S240F|ENST00000321935,p.S247F|uc009wta.3,p.S240F|NM_001004310,p.S240F|NM_001284217,p.S247F|uc001fud.4,p.S240F|ENST00000392235,p.S145F|uc009wsz.1,p.S145F|uc001fuc.2,p.S247F|ENST00000339348,p.S240F	retained_intron, protein_coding	uc009wta.3	nonsynonymous SNV	exon5	c.C719T	p.S240F	CEAQRGSPPILYSFYLDEKIVGNHS	CEAQRGSPPILYFFYLDEKIVGNHS	6.0	8.0	-	-	3703_1:159779306-159779306 C>T_CEAQRGSPPILYFFYLDEKIVGNHS
13:32367085-32367085 G>A	0.0	3703	MELANOMA	-	-	-	-	RXFP2	NM_001166058,p.G525E|NM_130806,p.G549E|ENST00000298386,p.G549E|uc010aba.3,p.G525E|ENST00000380314,p.G525E|uc001utt.3,p.G549E	protein_coding	uc010aba.3	nonsynonymous SNV	exon15	c.G1574A	p.G525E	QTSVILICIWMAGFLIAVIPFWNKD	QTSVILICIWMAEFLIAVIPFWNKD	1.0	8.0	-	-	3703_13:32367085-32367085 G>A_QTSVILICIWMAEFLIAVIPFWNKD
20:39750723-39750723 G>T	1.0	3703	MELANOMA	-	-	-	1	TOP1	ENST00000361337,p.R708L|uc002xjl.3,p.R708L|NM_003286,p.R708L	protein_coding	uc002xjl.3	nonsynonymous SNV	exon20	c.G2123T	p.R708L	EQLMKLEVQATDREENKQIALGTSK	EQLMKLEVQATDLEENKQIALGTSK	10.0	6.0	-	-	3703_20:39750723-39750723 G>T_EQLMKLEVQATDLEENKQIALGTSK
13:46067544-46067544 T>G	1.0	3703	MELANOMA	-	-	-	-	COG3	uc001vak.3,p.V417G|uc010aci.3,p.V193G|NM_031431,p.V417G|uc010tfv.2,p.V254G|uc001vai.3,p.V417G|ENST00000349995,p.V417G	protein_coding, processed_transcript	uc010tfv.2	nonsynonymous SNV	exon12	c.T761G	p.V254G	SLYDVFRPLIIHVIHLETLSELCGI	SLYDVFRPLIIHGIHLETLSELCGI	8.0	7.0	-	-	3703_13:46067544-46067544 T>G_SLYDVFRPLIIHGIHLETLSELCGI
1:32043041-32043041 C>T	1.0	3703	MELANOMA	-	-	-	-	TINAGL1	ENST00000537531,p.P98S	protein_coding, processed_transcript	ENST00000537531	nonsynonymous SNV	exon2	c.C292T	p.P98S	PDFWDFCLGVPPPFPPIQAPARRTG	PDFWDFCLGVPPSFPPIQAPARRTG	5.0	2.0	unscreened	-	3703_1:32043041-32043041 C>T_PDFWDFCLGVPPSFPPIQAPARRTG
22:50657236-50657236 C>T	1.0	3703	MELANOMA	-	-	-	-	TUBGCP6	uc010har.1,p.D1565N|NM_020461,p.D1573N|ENST00000425018,p.D259N|uc003bkb.1,p.D1573N|ENST00000248846,p.D1573N|uc003bka.1,p.D660N	retained_intron, protein_coding, processed_transcript	uc010har.1	nonsynonymous SNV	exon21	c.G4693A	p.D1565N	VLSKALQCSLHGDTPHASNLSLALK	VLSKALQCSLHGNTPHASNLSLALK	8.0	5.0	-	-	3703_22:50657236-50657236 C>T_VLSKALQCSLHGNTPHASNLSLALK
1:32043041-32043041 C>T	1.0	3703	MELANOMA	-	-	-	-	TINAGL1	ENST00000457433,p.P98S|uc010ogj.2,p.P98S|ENST00000271064,p.P98S|NM_001204414,p.P98S|NM_022164,p.P98S|uc010ogk.1,p.P98S|uc010ogi.1,p.P98S|ENST00000441210,p.P98S|uc001bta.3,p.P98S	protein_coding, processed_transcript	uc010ogk.1	nonsynonymous SNV	exon1	c.C292T	p.P98S	PDFWDFCLGVPPPFPPIQGCMHGGR	PDFWDFCLGVPPSFPPIQGCMHGGR	5.0	2.0	-	-	3703_1:32043041-32043041 C>T_PDFWDFCLGVPPSFPPIQGCMHGGR
17:47688704-47688704 A>T	1.0	3703	MELANOMA	-	-	-	1	SPOP	ENST00000347630,p.F199Y|NM_003563,p.F199Y|NM_001007229,p.F199Y|NM_001007226,p.F199Y|NM_001007228,p.F199Y|uc002ipg.3,p.F199Y|uc002ipf.3,p.F199Y|ENST00000393331,p.F199Y|ENST00000509079,p.F199Y|ENST00000503676,p.F199Y|ENST00000393328,p.F199Y|uc002ipd.3,p.F199Y|uc002ipe.3,p.F199Y|uc010dbk.3,p.F199Y|NM_001007227,p.F199Y|uc002ipb.3,p.F199Y|ENST00000505581,p.F199Y|ENST00000504102,p.F199Y|NM_001007230,p.F199Y|uc002ipc.3,p.F199Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dbk.3	nonsynonymous SNV	exon7	c.T596A	p.F199Y	ADELGGLWENSRFTDCCLCVAGQEF	ADELGGLWENSRYTDCCLCVAGQEF	8.0	8.0	-	-	3703_17:47688704-47688704 A>T_ADELGGLWENSRYTDCCLCVAGQEF
X:100911287-100911287 G>A	0.0	3703	MELANOMA	-	-	-	-	ARMCX2	uc010nnt.2,p.L430F|NM_014782,p.L430F|NM_177949,p.L430F|NM_001282231,p.L430F|uc004eif.3,p.L430F|uc022caq.1,p.L430F|uc004eie.3,p.L430F|ENST00000330154,p.L430F|ENST00000328766,p.L430F|ENST00000356824,p.L430F|uc004eid.2,p.L430F|uc004eig.3,p.L430F	protein_coding, processed_transcript	uc022caq.1	nonsynonymous SNV	exon1	c.C1288T	p.L430F	SCNQETIRKLGGLPIIANMINKTDP	SCNQETIRKLGGFPIIANMINKTDP	5.0	1.0	-	-	3703_X:100911287-100911287 G>A_SCNQETIRKLGGFPIIANMINKTDP
17:51901110-51901110 C>T	0.0	3703	MELANOMA	-	-	-	-	KIF2B	ENST00000268919,p.P239L|uc002iua.2,p.P239L|NM_032559,p.P239L	protein_coding	uc002iua.2	nonsynonymous SNV	exon1	c.C716T	p.P239L	ETTLKDLDIITVPSDNVVMVHESKQ	ETTLKDLDIITVLSDNVVMVHESKQ	1.0	7.0	-	-	3703_17:51901110-51901110 C>T_ETTLKDLDIITVLSDNVVMVHESKQ
15:79059069-79059069 C>T	1.0	3703	MELANOMA	-	-	-	-	ADAMTS7	uc002bej.4,p.D1062N|NM_014272,p.D1062N|ENST00000388820,p.D1062N	retained_intron, protein_coding, processed_transcript	uc002bej.4	nonsynonymous SNV	exon19	c.G3184A	p.D1062N	PELDLPGPVFVDDFYYDYNFINFHE	PELDLPGPVFVDNFYYDYNFINFHE	7.0	2.0	-	-	3703_15:79059069-79059069 C>T_PELDLPGPVFVDNFYYDYNFINFHE
15:63089500-63089500 C>A	1.0	3703	MELANOMA	-	-	-	-	TLN2	NM_015059,p.L2045M|uc002alb.4,p.L2045M|ENST00000306829,p.L2045M|ENST00000494733,p.L959M|ENST00000561311,p.L2045M|uc002alc.4,p.L438M	retained_intron, protein_coding, processed_transcript	uc002alc.4	nonsynonymous SNV	exon16	c.C1312A	p.L438M	LLVSGAASTPDKLAQAAQSSAATIT	LLVSGAASTPDKMAQAAQSSAATIT	6.0	3.0	-	-	3703_15:63089500-63089500 C>A_LLVSGAASTPDKMAQAAQSSAATIT
1:21009241-21009241 C>T	1.0	3703	MELANOMA	-	-	-	-	KIF17	ENST00000247986,p.E790K|NM_001122819,p.E790K|uc001bdp.4,p.E68K|uc001bds.4,p.E790K|uc001bdr.4,p.E790K|NM_001287212,p.E690K|uc009vpx.3,p.E160K|NM_020816,p.E790K|ENST00000400463,p.E790K|ENST00000375044,p.E690K	protein_coding, processed_transcript	uc009vpx.3	nonsynonymous SNV	exon5	c.G478A	p.E160K	RKQLVAALQNSDEDSGDWVLLNVYD	RKQLVAALQNSDKDSGDWVLLNVYD	8.0	9.0	-	-	3703_1:21009241-21009241 C>T_RKQLVAALQNSDKDSGDWVLLNVYD
12:18716366-18716366 C>T	0.0	3703	MELANOMA	-	-	-	-	PIK3C2G	ENST00000266497,p.S1238L|NM_001288772,p.S1279L|uc001rdt.3,p.S1238L|uc010sic.2,p.S1057L|uc010sib.2,p.S1279L|NM_004570,p.S1238L|NM_001288774,p.S1057L|ENST00000538779,p.S1279L|ENST00000433979,p.S1238L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sic.2	nonsynonymous SNV	exon27	c.C3170T	p.S1057L	THSNNETSLTEKSFEQFSKLHSQLQ	THSNNETSLTEKLFEQFSKLHSQLQ	1.0	10.0	-	-	3703_12:18716366-18716366 C>T_THSNNETSLTEKLFEQFSKLHSQLQ
19:45681368-45681368 C>T	1.0	3703	MELANOMA	-	-	-	-	TRAPPC6A	uc031rli.1,p.E37K|NM_001270892,p.E37K|ENST00000592647,p.E37K	retained_intron, protein_coding	uc031rli.1	nonsynonymous SNV	exon1	c.G109A	p.E37K	PGPGVSAGLRGEEAGATKAAPGDAG	PGPGVSAGLRGEKAGATKAAPGDAG	5.0	4.0	-	-	3703_19:45681368-45681368 C>T_PGPGVSAGLRGEKAGATKAAPGDAG
7:94919467-94919467 T>G	1.0	3703	MELANOMA	-	-	-	-	PPP1R9A	uc011kig.2,p.M1042R|ENST00000456331,p.M1205R|ENST00000340694,p.M1050R|NM_017650,p.M1050R|uc011kif.2,p.M1248R|uc003unr.3,p.M339R|NM_001166162,p.M1205R|ENST00000424654,p.M1205R|NM_001166161,p.M1248R|ENST00000289495,p.M1248R|NM_001166160,p.M1326R|ENST00000433881,p.M1050R|uc003unp.3,p.M1050R|ENST00000433360,p.M1326R|NM_001166163,p.M1042R|uc003unq.3,p.M1205R|uc010lfj.3,p.M1326R	protein_coding	uc011kig.2	nonsynonymous SNV	exon14	c.T3125G	p.M1042R	RAVVKKKLKEMKMSLEKARKAQEKM	RAVVKKKLKEMKRSLEKARKAQEKM	9.0	10.0	-	-	3703_7:94919467-94919467 T>G_RAVVKKKLKEMKRSLEKARKAQEKM
1:1849869-1849869 G>A	0.0	3703	MELANOMA	-	-	-	-	TMEM52	ENST00000378602,p.L43F|uc001aii.2,p.L43F	retained_intron, protein_coding	uc001aii.2	nonsynonymous SNV	exon1	c.C127T	p.L43F	RVSPVVEPCSPRLILLAVLLLLLCG	RVSPVVEPCSPRFILLAVLLLLLCG	5.0	10.0	-	-	3703_1:1849869-1849869 G>A_RVSPVVEPCSPRFILLAVLLLLLCG
19:45681368-45681368 C>T	1.0	3703	MELANOMA	-	-	-	-	TRAPPC6A	ENST00000006275,p.E37K|uc002pav.4,p.E37K|NM_024108,p.E37K	retained_intron, protein_coding	uc002pav.4	nonsynonymous SNV	exon1	c.G109A	p.E37K	PGPGVSAGLRGEEAGATKGQKMSLS	PGPGVSAGLRGEKAGATKGQKMSLS	5.0	4.0	-	-	3703_19:45681368-45681368 C>T_PGPGVSAGLRGEKAGATKGQKMSLS
2:241660367-241660367 G>A	0.0	3703	MELANOMA	-	-	-	-	KIF1A	NM_004321,p.S1510F|uc002vzw.3,p.S171F|uc002vzx.3,p.S237F|ENST00000498729,p.S1611F|uc010fzk.3,p.S1611F|uc031rsb.1,p.S1510F|ENST00000320389,p.S1510F|NM_001244008,p.S1611F	retained_intron, protein_coding	uc031rsb.1	nonsynonymous SNV	exon42	c.C4529T	p.S1510F	GVATLTPSSTCPSLVEGRYGATDLR	GVATLTPSSTCPFLVEGRYGATDLR	1.0	1.0	-	-	3703_2:241660367-241660367 G>A_GVATLTPSSTCPFLVEGRYGATDLR
21:41452109-41452109 C>T	0.0	3703	MELANOMA	-	-	-	-	DSCAM	ENST00000400454,p.E1464K|uc002yyq.1,p.E1464K|uc031rvr.1,p.E1464K|NM_001389,p.E1464K|ENST00000404019,p.E1216K|NM_001271534,p.E1464K	protein_coding	uc031rvr.1	nonsynonymous SNV	exon25	c.G4390A	p.E1464K	TAQNGVGPGRISEIIEAKTLGKEPQ	TAQNGVGPGRISKIIEAKTLGKEPQ	1.0	2.0	-	-	3703_21:41452109-41452109 C>T_TAQNGVGPGRISKIIEAKTLGKEPQ
1:32653693-32653693 C>A	1.0	3703	MELANOMA	-	-	-	-	TXLNA	uc001buj.3,p.R246S|uc001bui.3,p.R246S|ENST00000373609,p.R246S|NM_175852,p.R246S|ENST00000373610,p.R246S	protein_coding	uc001buj.3	nonsynonymous SNV	exon4	c.C736A	p.R246S	AVLARSKLESLCRELQRHNRSLKEE	AVLARSKLESLCSELQRHNRSLKEE	9.0	10.0	-	-	3703_1:32653693-32653693 C>A_AVLARSKLESLCSELQRHNRSLKEE
12:54422381-54422381 C>T	1.0	3703	MELANOMA	-	-	-	-	HOXC6	NM_004503,p.L26F|ENST00000243108,p.L26F|uc001sev.3,p.L26F	protein_coding	uc001sev.3	nonsynonymous SNV	exon1	c.C76T	p.L26F	LAGGQDVLPNVALNSTAYDPVRHFS	LAGGQDVLPNVAFNSTAYDPVRHFS	5.0	5.0	-	-	3703_12:54422381-54422381 C>T_LAGGQDVLPNVAFNSTAYDPVRHFS
11:57799260-57799260 C>T	0.0	3703	MELANOMA	-	-	-	-	OR6Q1	NM_001005186,p.S279F|uc010rjz.2,p.S279F|ENST00000302622,p.S279F	protein_coding	uc010rjz.2	nonsynonymous SNV	exon1	c.C836T	p.S279F	KVTSSINFNKVVSVFYSVVTPMLNP	KVTSSINFNKVVFVFYSVVTPMLNP	1.0	1.0	-	-	3703_11:57799260-57799260 C>T_KVTSSINFNKVVFVFYSVVTPMLNP
19:6712354-6712354 C>T	0.0	3703	MELANOMA	-	-	-	-	C3	NM_000064,p.D395N|ENST00000245907,p.D395N|uc002mfm.3,p.D395N	retained_intron, protein_coding, processed_transcript	uc002mfm.3	nonsynonymous SNV	exon11	c.G1183A	p.D395N	PAYRVPVAVQGEDTVQSLTQGDGVA	PAYRVPVAVQGENTVQSLTQGDGVA	10.0	6.0	-	-	3703_19:6712354-6712354 C>T_PAYRVPVAVQGENTVQSLTQGDGVA
20:44429737-44429737 G>A	1.0	3703	MELANOMA	-	-	-	-	DNTTIP1	uc002xpk.3,p.E133K|ENST00000372622,p.E133K|ENST00000415790,p.E93K|NM_052951,p.E133K	retained_intron, protein_coding	uc002xpk.3	nonsynonymous SNV	exon5	c.G397A	p.E133K	CLEQAKLLFSDGEKVIPRLTHELPG	CLEQAKLLFSDGKKVIPRLTHELPG	7.0	6.0	-	-	3703_20:44429737-44429737 G>A_CLEQAKLLFSDGKKVIPRLTHELPG
6:111540048-111540048 C>T	0.0	3703	MELANOMA	-	-	-	-	SLC16A10	ENST00000368850,p.S59F|NM_018593,p.S373F|uc003pus.3,p.S373F|uc003put.3,p.S59F|ENST00000368851,p.S373F	protein_coding, processed_transcript	uc003put.3	nonsynonymous SNV	exon4	c.C176T	p.S59F	LQVLSFFFIGLMSMMIPLCSIFGAL	LQVLSFFFIGLMFMMIPLCSIFGAL	1.0	3.0	-	-	3703_6:111540048-111540048 C>T_LQVLSFFFIGLMFMMIPLCSIFGAL
4:178360783-178360783 A>T	1.0	3703	MELANOMA	-	-	-	-	AGA	uc003iuw.3,p.V114E|NM_001171988,p.V114E|uc003iuu.2,p.V114E|NM_000027,p.V114E|ENST00000264595,p.V114E	retained_intron, protein_coding, processed_transcript	uc003iuw.3	nonsynonymous SNV	exon3	c.T341A	p.V114E	VGDLRRIKNAIGVARKVLEHTTHTL	VGDLRRIKNAIGEARKVLEHTTHTL	10.0	3.0	-	-	3703_4:178360783-178360783 A>T_VGDLRRIKNAIGEARKVLEHTTHTL
2:69704072-69704072 C>A	1.0	3703	MELANOMA	-	-	-	-	AAK1	uc002sfp.2,p.D911Y|ENST00000409085,p.D911Y|NM_014911,p.D911Y	retained_intron, protein_coding, processed_transcript	uc002sfp.2	nonsynonymous SNV	exon21	c.G2731T	p.D911Y	NLISGFDVPEGSDKVAEDEFDPIPV	NLISGFDVPEGSYKVAEDEFDPIPV	6.0	3.0	-	-	3703_2:69704072-69704072 C>A_NLISGFDVPEGSYKVAEDEFDPIPV
4:70361117-70361117 G>A	0.0	3703	MELANOMA	-	-	-	-	UGT2B4	uc003hek.4,p.P155S|NM_001297615,p.P155S|uc003hel.4,p.P155S|ENST00000305107,p.P155S|ENST00000512583,p.P155S|NM_021139,p.P155S	protein_coding, processed_transcript	uc003hel.4	nonsynonymous SNV	exon1	c.C463T	p.P155S	SRFDVVLADAVFPFGELLAELLKIP	SRFDVVLADAVFSFGELLAELLKIP	1.0	7.0	-	-	3703_4:70361117-70361117 G>A_SRFDVVLADAVFSFGELLAELLKIP
14:20296145-20296145 G>A	0.0	3703	MELANOMA	-	-	-	-	OR4N2	NM_001004723,p.D180N|ENST00000315947,p.D180N|uc010tkv.2,p.D180N	protein_coding	uc010tkv.2	nonsynonymous SNV	exon1	c.G538A	p.D180N	FCGPNQLDNFFCDVPQVIKLACTDT	FCGPNQLDNFFCNVPQVIKLACTDT	1.0	1.0	-	-	3703_14:20296145-20296145 G>A_FCGPNQLDNFFCNVPQVIKLACTDT
5:140768953-140768953 C>T	0.0	3703	MELANOMA	-	-	-	-	PCDHGB4	ENST00000519479,p.S501F|uc003lkc.2,p.S501F|NM_032098,p.S501F|NM_003736,p.S501F	protein_coding	uc003lkc.2	nonsynonymous SNV	exon1	c.C1502T	p.S501F	IMASDLEQRELSSYVSISAESGVVF	IMASDLEQRELSFYVSISAESGVVF	2.0	9.0	-	-	3703_5:140768953-140768953 C>T_IMASDLEQRELSFYVSISAESGVVF
15:63131062-63131062 G>A	1.0	3703	MELANOMA	-	-	-	-	TLN2	ENST00000306829,p.G2461E|ENST00000561311,p.G2461E|uc002alb.4,p.G2461E|uc002alc.4,p.G854E|NM_015059,p.G2461E	retained_intron, protein_coding, processed_transcript	uc002alc.4	nonsynonymous SNV	exon26	c.G2561A	p.G854E	QDSEAMRRLQAAGNAVKRASDNLVR	QDSEAMRRLQAAENAVKRASDNLVR	6.0	9.0	-	-	3703_15:63131062-63131062 G>A_QDSEAMRRLQAAENAVKRASDNLVR
2:131129929-131129934 GACGGG>-	1.0	3703	MELANOMA	0.31	rs112040677	ID=COSM246865;OCCURENCE=2(skin),1(prostate)	-	PTPN18	uc002tre.3,p.22_24del|NM_014369,p.371_373del|ENST00000347849,p.264_266del|uc002trc.3,p.371_373del|NM_001142370,p.264_266del|uc002trb.3,p.264_266del|ENST00000175756,p.371_373del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tre.3	nonframeshift deletion	exon1	c.66_71del	p.22_24del	KRGAPAGAGSGTQTGTGTGTGARSA	KRGAPAGAGSGTQTGTGTGARSAEE	9.0	10.0	unscreened	-	3703_2:131129929-131129934 GACGGG>-_KRGAPAGAGSGTQTGTGTGARSAEE
2:141660609-141660609 C>T	0.0	3703	MELANOMA	-	-	-	1	LRP1B	uc010fnl.1,p.D398N|ENST00000389484,p.D1216N|ENST00000434794,p.D361N|uc002tvj.1,p.D1216N|NM_018557,p.D1216N	protein_coding, processed_transcript	uc010fnl.1	nonsynonymous SNV	exon8	c.G1192A	p.D398N	QLNKDNKTCEIVDYCSNHLKCSQVC	QLNKDNKTCEIVNYCSNHLKCSQVC	1.0	1.0	-	-	3703_2:141660609-141660609 C>T_QLNKDNKTCEIVNYCSNHLKCSQVC
1:16344347-16344347 C>T	1.0	3703	MELANOMA	-	-	-	-	HSPB7	uc001axs.2,p.D113N|ENST00000375718,p.D113N	retained_intron, protein_coding	uc001axs.2	nonsynonymous SNV	exon2	c.G337A	p.D113N	PLRMASTLAQGKDPPMEKALSMFSD	PLRMASTLAQGKNPPMEKALSMFSD	5.0	10.0	-	-	3703_1:16344347-16344347 C>T_PLRMASTLAQGKNPPMEKALSMFSD
X:17819307-17819307 G>A	0.0	3703	MELANOMA	-	-	-	-	RAI2	ENST00000415486,p.P225L|ENST00000360011,p.P275L|NM_001172732,p.P225L|NM_001172739,p.P275L|uc004cyh.4,p.P275L|uc004cyg.3,p.P275L|ENST00000545871,p.P275L|ENST00000331511,p.P275L|NM_021785,p.P275L|uc022btl.1,p.P275L|ENST00000451717,p.P275L|NM_001172743,p.P275L|uc010nfa.3,p.P275L|uc004cyf.3,p.P275L|uc022btm.1,p.P275L|uc011miy.2,p.P225L	protein_coding	uc022btm.1	nonsynonymous SNV	exon1	c.C824T	p.P275L	SFPKPPSSFGLHPFKGTQTPLEKDE	SFPKPPSSFGLHLFKGTQTPLEKDE	2.0	2.0	-	-	3703_X:17819307-17819307 G>A_SFPKPPSSFGLHLFKGTQTPLEKDE
11:55587727-55587727 G>A	0.0	3703	MELANOMA	-	-	-	-	OR5D18	uc010rin.2,p.E208K|NM_001001952,p.E208K|ENST00000333976,p.E208K	protein_coding	uc010rin.2	nonsynonymous SNV	exon1	c.G622A	p.E208K	NQWLLFFLATFNEISTLLIVLTSYA	NQWLLFFLATFNKISTLLIVLTSYA	1.0	7.0	-	-	3703_11:55587727-55587727 G>A_NQWLLFFLATFNKISTLLIVLTSYA
1:20097818-20097818 G>A	1.0	3703	MELANOMA	-	-	-	-	TMCO4	NM_181719,p.P113S|ENST00000375122,p.P113S|uc001bcp.1,p.P113S|uc001bco.1,p.P113S|ENST00000375127,p.P113S|uc001bcq.1,p.P113S|uc001bcn.3,p.P113S|ENST00000294543,p.P113S|uc009vpn.1,p.P113S	protein_coding, processed_transcript	uc009vpn.1	nonsynonymous SNV	exon5	c.C337T	p.P113S	QILLKDPILKDDPTVITQDLLSFSL	QILLKDPILKDDSTVITQDLLSFSL	6.0	6.0	-	-	3703_1:20097818-20097818 G>A_QILLKDPILKDDSTVITQDLLSFSL
X:86869004-86869004 G>A	0.0	3703	MELANOMA	-	-	-	-	KLHL4	uc004efb.2,p.D183N|NM_019117,p.D183N|NM_057162,p.D183N|ENST00000373119,p.D183N|ENST00000373114,p.D183N|uc004efa.2,p.D183N	protein_coding	uc004efb.2	nonsynonymous SNV	exon2	c.G547A	p.D183N	KMENYLKEKQLCDVLLIAGHLRIPA	KMENYLKEKQLCNVLLIAGHLRIPA	3.0	2.0	-	-	3703_X:86869004-86869004 G>A_KMENYLKEKQLCNVLLIAGHLRIPA
14:67589024-67589024 C>T	1.0	3703	MELANOMA	-	-	ID=COSM553445;OCCURENCE=1(lung),1(endometrium)	1	GPHN	ENST00000305960,p.R496C|uc010tss.2,p.R573C|NM_001024218,p.R527C|ENST00000543237,p.R573C|ENST00000555503,p.R52C|NM_020806,p.R560C|uc010tst.2,p.R496C|ENST00000315266,p.R527C|uc001xix.3,p.R560C|ENST00000478722,p.R560C|uc010tsu.2,p.R450C|uc001xiy.3,p.R527C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tsu.2	nonsynonymous SNV	exon15	c.C1348T	p.R450C	DDLLPGKIRDSNRSTLLATIQEHGY	DDLLPGKIRDSNCSTLLATIQEHGY	9.0	4.0	-	-	3703_14:67589024-67589024 C>T_DDLLPGKIRDSNCSTLLATIQEHGY
11:57003458-57003458 C>T	0.0	3703	MELANOMA	-	-	-	-	APLNR	uc001njo.3,p.E341K|ENST00000257254,p.E341K|ENST00000606794,p.E341K|NM_005161,p.E341K	protein_coding	uc001njo.3	nonsynonymous SNV	exon1	c.G1021A	p.E341K	SRCAGTSHSSSGEKSASYSSGHSQG	SRCAGTSHSSSGKKSASYSSGHSQG	6.0	1.0	-	-	3703_11:57003458-57003458 C>T_SRCAGTSHSSSGKKSASYSSGHSQG
1:42046823-42046823 G>A	0.0	3703	MELANOMA	-	-	-	-	HIVEP3	ENST00000429157,p.P1216S|ENST00000372583,p.P1216S|ENST00000247584,p.P1216S|NM_024503,p.P1216S|uc001cha.4,p.P1216S|NM_001127714,p.P1216S|uc001cgz.4,p.P1216S|ENST00000372584,p.P1216S	protein_coding, processed_transcript	uc001cha.4	nonsynonymous SNV	exon3	c.C3646T	p.P1216S	HLPQLMPHPANIPFRQPPSFLPMPY	HLPQLMPHPANISFRQPPSFLPMPY	4.0	2.0	-	-	3703_1:42046823-42046823 G>A_HLPQLMPHPANISFRQPPSFLPMPY
8:41355112-41355112 C>T	1.0	3703	MELANOMA	-	-	-	-	GOLGA7	ENST00000518270,p.L66F|uc003xnu.3,p.L66F|ENST00000520817,p.L66F|NM_001002296,p.L66F|NM_001174124,p.L66F|ENST00000357743,p.L66F|NM_016099,p.L66F|uc003xnw.3,p.L66F|ENST00000405786,p.L66F|uc022auf.1,p.L66F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022auf.1	nonsynonymous SNV	exon3	c.C196T	p.L66F	YAEAEKLGGQSYLEGCLACLTAYTI	YAEAEKLGGQSYFEGCLACLTAYTI	10.0	8.0	-	-	3703_8:41355112-41355112 C>T_YAEAEKLGGQSYFEGCLACLTAYTI
1:26650801-26650801 G>A	0.0	3703	MELANOMA	-	-	-	-	AIM1L	ENST00000527815,p.R653C|NM_001039775,p.R1527C|uc001bmd.4,p.R1527C|ENST00000308182,p.R482C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001bmd.4	nonsynonymous SNV	exon18	c.C4579T	p.R1527C	TQRVGSLYPIKQRRVYFRLWNAALG	TQRVGSLYPIKQCRVYFRLWNAALG	1.0	2.0	-	-	3703_1:26650801-26650801 G>A_TQRVGSLYPIKQCRVYFRLWNAALG
19:44792186-44792186 A>G	1.0	3703	MELANOMA	-	-	-	-	ZNF235	ENST00000291182,p.F468L|uc002ozb.4,p.F464L|NM_004234,p.F468L|uc002oza.4,p.F468L	retained_intron, protein_coding, nonsense_mediated_decay	uc002ozb.4	nonsynonymous SNV	exon5	c.T1390C	p.F464L	EKPYKCDECGKCFSLSFNLHSHQRV	EKPYKCDECGKCLSLSFNLHSHQRV	5.0	7.0	-	-	3703_19:44792186-44792186 A>G_EKPYKCDECGKCLSLSFNLHSHQRV
12:95926609-95926609 C>T	0.0	3703	MELANOMA	-	-	-	-	USP44	uc009zte.3,p.S472N|uc001teh.3,p.S475N|NM_001278393,p.S475N|NM_032147,p.S475N|ENST00000537435,p.S475N|NM_001042403,p.S475N|ENST00000393091,p.S475N|ENST00000258499,p.S475N|uc001teg.3,p.S475N	retained_intron, protein_coding, processed_transcript	uc009zte.3	nonsynonymous SNV	exon2	c.G1415A	p.S472N	NVVNNIFHGQLLSQVTCLACDNKSN	NVVNNIFHGQLLNQVTCLACDNKSN	1.0	1.0	-	-	3703_12:95926609-95926609 C>T_NVVNNIFHGQLLNQVTCLACDNKSN
X:151998261-151998261 C>T	0.0	3703	MELANOMA	-	-	-	-	CETN2	ENST00000370277,p.R16Q|NM_004344,p.R16Q|uc004fgq.3,p.R16Q	protein_coding, processed_transcript	uc004fgq.3	nonsynonymous SNV	exon2	c.G47A	p.R16Q	NFKKANMASSSQRKRMSPKPELTEE	NFKKANMASSSQQKRMSPKPELTEE	8.0	1.0	-	-	3703_X:151998261-151998261 C>T_NFKKANMASSSQQKRMSPKPELTEE
X:154182265-154182265 C>T	0.0	3703	MELANOMA	-	-	-	-	F8	uc004fmt.3,p.R602Q|ENST00000360256,p.R602Q|NM_000132,p.R602Q	protein_coding, processed_transcript	uc004fmt.3	nonsynonymous SNV	exon12	c.G1805A	p.R602Q	RNVILFSVFDENRSWYLTENIQRFL	RNVILFSVFDENQSWYLTENIQRFL	6.0	4.0	-	-	3703_X:154182265-154182265 C>T_RNVILFSVFDENQSWYLTENIQRFL
X:152722006-152722006 G>A	0.0	3703	MELANOMA	-	-	-	-	HAUS7	ENST00000421080,p.P55S|ENST00000370219,p.P194S|ENST00000370212,p.P194S|NM_017518,p.P194S|uc004fhn.2,p.P194S|ENST00000370211,p.P184S|uc004fho.2,p.P194S	protein_coding, processed_transcript	uc004fho.2	nonsynonymous SNV	exon6	c.C580T	p.P194S	PHLQMLLNPECDPWPLDMQPLLNKQ	PHLQMLLNPECDSWPLDMQPLLNKQ	7.0	9.0	-	-	3703_X:152722006-152722006 G>A_PHLQMLLNPECDSWPLDMQPLLNKQ
2:215831649-215831649 G>A	0.0	3703	MELANOMA	-	-	-	-	ABCA12	uc010zjn.2,p.S863F|uc002vew.3,p.S1936F|ENST00000389661,p.S1618F|NM_015657,p.S1618F|ENST00000272895,p.S1936F|uc002vev.3,p.S1618F|NM_173076,p.S1936F	protein_coding	uc010zjn.2	nonsynonymous SNV	exon41	c.C2588T	p.S863F	LAKVWYDPEGYHSLPAYLNSLNNFL	LAKVWYDPEGYHFLPAYLNSLNNFL	1.0	4.0	-	-	3703_2:215831649-215831649 G>A_LAKVWYDPEGYHFLPAYLNSLNNFL
4:165961274-165961274 C>T	0.0	3703	MELANOMA	-	-	-	-	TRIM60	NM_001258025,p.P17L|ENST00000512596,p.P17L|ENST00000508504,p.P17L|ENST00000507119,p.P17L|uc003iqy.1,p.P17L|NM_152620,p.P17L|uc021xty.1,p.P17L|ENST00000341062,p.P17L|uc010iqx.2,p.P17L	protein_coding	uc021xty.1	nonsynonymous SNV	exon1	c.C50T	p.P17L	TALVNLQEESSCPICLEYLKDPVTI	TALVNLQEESSCLICLEYLKDPVTI	1.0	3.0	-	-	3703_4:165961274-165961274 C>T_TALVNLQEESSCLICLEYLKDPVTI
13:39587366-39587366 G>A	1.0	3703	MELANOMA	-	-	-	-	PROSER1	ENST00000350125,p.P653S|ENST00000352251,p.P675S|NM_025138,p.P675S|uc001uwy.4,p.P675S	protein_coding, processed_transcript	uc001uwy.4	nonsynonymous SNV	exon11	c.C2023T	p.P675S	LSSLSTPLNGSNPLSSISLPPHGSS	LSSLSTPLNGSNSLSSISLPPHGSS	8.0	3.0	-	-	3703_13:39587366-39587366 G>A_LSSLSTPLNGSNSLSSISLPPHGSS
11:92087074-92087074 C>A	0.0	3703	MELANOMA	-	-	-	2	FAT3	uc001pdj.4,p.A599E|ENST00000525166,p.A449E|ENST00000541502,p.A599E|NM_001008781,p.A599E|ENST00000298047,p.A599E|ENST00000409404,p.A599E	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon1	c.C1796A	p.A599E	ISYDFPVGGHITAVSAIDIDELELV	ISYDFPVGGHITEVSAIDIDELELV	3.0	3.0	-	-	3703_11:92087074-92087074 C>A_ISYDFPVGGHITEVSAIDIDELELV
8:66525582-66525582 A>T	1.0	3703	MELANOMA	-	-	-	-	ARMC1	ENST00000518908,p.F121Y|uc003xvl.3,p.F121Y|NM_018120,p.F121Y|ENST00000276569,p.F121Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc003xvl.3	nonsynonymous SNV	exon4	c.T362A	p.F121Y	ILQSSNMADGDSFNEMNSRRRKAQF	ILQSSNMADGDSYNEMNSRRRKAQF	10.0	9.0	-	-	3703_8:66525582-66525582 A>T_ILQSSNMADGDSYNEMNSRRRKAQF
1:197030188-197030188 C>T	0.0	3703	MELANOMA	-	-	-	-	F13B	uc001gtt.1,p.E157K|NM_001994,p.E157K|ENST00000367412,p.E157K	protein_coding, processed_transcript	uc001gtt.1	nonsynonymous SNV	exon4	c.G469A	p.E157K	TCRKEHETCLAPELYNGNYSTTQKT	TCRKEHETCLAPKLYNGNYSTTQKT	1.0	10.0	-	-	3703_1:197030188-197030188 C>T_TCRKEHETCLAPKLYNGNYSTTQKT
4:71068629-71068629 G>A	0.0	3703	MELANOMA	-	-	-	-	ODAM	ENST00000396094,p.E269K|NM_017855,p.E269K|ENST00000514097,p.E206K|uc003hfc.3,p.E269K	retained_intron, protein_coding, nonsense_mediated_decay	uc003hfc.3	nonsynonymous SNV	exon9	c.G805A	p.E269K	AVDQTITPELPEEKDKTDSLREP	AVDQTITPELPEKKDKTDSLREP	1.0	1.0	-	-	3703_4:71068629-71068629 G>A_AVDQTITPELPEKKDKTDSLREP
7:107752391-107752391 C>A	0.0	3703	MELANOMA	-	-	-	-	LAMB4	ENST00000414450,p.G65W|ENST00000205386,p.G65W|uc010ljo.1,p.G65W|uc003vey.2,p.G65W|ENST00000388780,p.G65W|NM_007356,p.G65W|ENST00000388781,p.G65W|ENST00000418464,p.G65W	retained_intron, protein_coding, processed_transcript	uc010ljo.1	nonsynonymous SNV	exon4	c.G193T	p.G65W	RAQKYCILSYLEGEQKCFICDSRFP	RAQKYCILSYLEWEQKCFICDSRFP	2.0	2.0	-	-	3703_7:107752391-107752391 C>A_RAQKYCILSYLEWEQKCFICDSRFP
14:45645631-45645631 G>A	1.0	3703	MELANOMA	-	-	-	-	FANCM	NM_020937,p.R1225K|uc010ang.3,p.R439K|uc001wwe.4,p.R761K|ENST00000267430,p.R1225K|ENST00000542564,p.R1199K|uc001wwd.4,p.R1225K|uc010anf.3,p.R1199K|ENST00000556250,p.R741K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ang.3	nonsynonymous SNV	exon1	c.G1316A	p.R439K	KVKNHEDIFDCSRDLFSVTFDLGFC	KVKNHEDIFDCSKDLFSVTFDLGFC	5.0	5.0	-	-	3703_14:45645631-45645631 G>A_KVKNHEDIFDCSKDLFSVTFDLGFC
19:5778646-5778646 G>A	0.0	3703	MELANOMA	-	-	-	-	CATSPERD	NM_152784,p.G786R|ENST00000381624,p.G786R|uc002mda.3,p.G786R	protein_coding, processed_transcript	uc002mda.3	nonsynonymous SNV	exon22	c.G2356A	p.G786R	ASATARAGTEPPGRHRTPHGGRSDH	ASATARAGTEPPRRHRTPHGGRSDH	1.0	1.0	-	-	3703_19:5778646-5778646 G>A_ASATARAGTEPPRRHRTPHGGRSDH
3:38793949-38793949 G>A	0.0	3703	MELANOMA	-	-	-	-	SCN10A	uc003ciq.3,p.H506Y|ENST00000449082,p.H506Y|NM_001293306,p.H506Y|NM_006514,p.H506Y	protein_coding	uc003ciq.3	nonsynonymous SNV	exon11	c.C1516T	p.H506Y	SGKRRASHGSVFHFRSPGRDISLPE	SGKRRASHGSVFYFRSPGRDISLPE	1.0	3.0	-	-	3703_3:38793949-38793949 G>A_SGKRRASHGSVFYFRSPGRDISLPE
19:54745907-54745907 A>C	0.0	3703	MELANOMA	-	-	-	-	LILRA6,LILRB3	ENST00000396365,p.M117R|uc002qeo.1,p.M117R|uc010yeq.1,p.M117R|NM_006864,p.M117R|NM_001081450,p.M117R|ENST00000440558,p.M117R|ENST00000391735,p.M117R|uc010yep.1,p.M117R|ENST00000419410,p.M117R|uc002qel.1,p.M117R|uc002qei.1,p.M117R|uc002qeu.1,p.M117R|uc002qeq.1,p.M117R|ENST00000245621,p.M117R|uc002qes.1,p.M117R|ENST00000270464,p.M117R|uc002qek.1,p.M117R|ENST00000430421,p.M117R	 protein_coding, processed_transcript, nonsense_mediated_decay,retained_intron	uc010yeq.1	nonsynonymous SNV	exon3	c.T350G	p.M117R	GWSEPSDPLELVMTGFYNKPTLSAL	GWSEPSDPLELVRTGFYNKPTLSAL	3.0	1.0	-	-	3703_19:54745907-54745907 A>C_GWSEPSDPLELVRTGFYNKPTLSAL
X:135430654-135430654 C>T	0.0	3703	MELANOMA	-	-	-	-	GPR112	ENST00000287534,p.P1534S|uc004ezu.1,p.P1597S|ENST00000394143,p.P1597S|uc010nsc.1,p.P1364S|ENST00000370652,p.P1597S|ENST00000412101,p.P1392S|uc010nsb.1,p.P1392S|ENST00000394141,p.P1392S|NM_153834,p.P1597S	protein_coding	uc010nsc.1	nonsynonymous SNV	exon1	c.C4090T	p.P1364S	VGLFSTLLSSVTPRTTMTMQTSTLD	VGLFSTLLSSVTSRTTMTMQTSTLD	1.0	3.0	-	-	3703_X:135430654-135430654 C>T_VGLFSTLLSSVTSRTTMTMQTSTLD
1:173552668-173552668 C>T	0.0	3703	MELANOMA	-	-	ID=COSM899749;OCCURENCE=1(endometrium)	-	SLC9C2	uc001giz.2,p.R206K|ENST00000536496,p.R104K|NM_178527,p.R206K|ENST00000367714,p.R206K	protein_coding, processed_transcript	uc001giz.2	nonsynonymous SNV	exon6	c.G617A	p.R206K	IASIFFGNFRGNRIHFSIFRDLHVG	IASIFFGNFRGNKIHFSIFRDLHVG	1.0	7.0	-	-	3703_1:173552668-173552668 C>T_IASIFFGNFRGNKIHFSIFRDLHVG
2:31152289-31152289 G>A	0.0	3703	MELANOMA	-	-	-	-	GALNT14	ENST00000356174,p.P342S|NM_001253827,p.P355S|uc002rnr.3,p.P375S|uc010ymr.2,p.P340S|ENST00000406653,p.P355S|ENST00000349752,p.P375S|ENST00000324589,p.P380S|uc002rnq.3,p.P355S|uc002rns.3,p.P380S|ENST00000420311,p.P340S|NM_001253826,p.P380S|NM_024572,p.P375S|uc010ezo.2,p.P342S|ENST00000430167,p.P342S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ymr.2	nonsynonymous SNV	exon12	c.C1018T	p.P340S	MDEYKQYYYAARPFALERPFGNVES	MDEYKQYYYAARSFALERPFGNVES	4.0	1.0	-	-	3703_2:31152289-31152289 G>A_MDEYKQYYYAARSFALERPFGNVES
22:39883656-39883656 G>A	0.0	3703	MELANOMA	-	-	-	-	MGAT3	uc010gxy.3,p.E102K|uc003axv.4,p.E102K|NM_001098270,p.E102K|ENST00000429402,p.E102K|ENST00000341184,p.E102K|NM_002409,p.E102K	protein_coding	uc010gxy.3	nonsynonymous SNV	exon1	c.G304A	p.E102K	AEELHRVDLVLPEDTTEYFVRTKAG	AEELHRVDLVLPKDTTEYFVRTKAG	1.0	10.0	-	-	3703_22:39883656-39883656 G>A_AEELHRVDLVLPKDTTEYFVRTKAG
7:57187687-57187687 T>C	0.0	3703	MELANOMA	-	-	-	2	ZNF479	NM_033273,p.T479A|ENST00000331162,p.T479A|uc010kzo.3,p.T479A	protein_coding	uc010kzo.3	nonsynonymous SNV	exon5	c.A1435G	p.T479A	CEECGKAFNCSSTLMQHKRIHTGEK	CEECGKAFNCSSALMQHKRIHTGEK	1.0	9.0	-	-	3703_7:57187687-57187687 T>C_CEECGKAFNCSSALMQHKRIHTGEK
6:36990132-36990132 C>T	0.0	3703	MELANOMA	-	-	-	-	FGD2	uc003onj.1,p.R59W|NM_173558,p.R482W|uc003ong.2,p.R204W|ENST00000274963,p.R482W|uc011dtv.1,p.R110W|uc010jwp.1,p.R482W	retained_intron, protein_coding, nonsense_mediated_decay	uc011dtv.1	nonsynonymous SNV	exon11	c.C328T	p.R110W	PFNALTRRRHHCRACGYVVCARCSD	PFNALTRRRHHCWACGYVVCARCSD	6.0	1.0	-	-	3703_6:36990132-36990132 C>T_PFNALTRRRHHCWACGYVVCARCSD
12:58121490-58121490 G>A	1.0	3703	MELANOMA	-	-	-	-	AGAP2	uc001spp.3,p.S943L|ENST00000257897,p.S588L|uc001spr.3,p.S588L|NM_014770,p.S588L|uc001spq.3,p.S944L|ENST00000547588,p.S944L|NM_001122772,p.S944L	protein_coding	uc001spr.3	nonsynonymous SNV	exon15	c.C1763T	p.S588L	VAIQAIRNAKGNSICVDCGAPNPTW	VAIQAIRNAKGNLICVDCGAPNPTW	5.0	9.0	-	-	3703_12:58121490-58121490 G>A_VAIQAIRNAKGNLICVDCGAPNPTW
2:107459731-107459731 C>T	0.0	3703	MELANOMA	-	-	-	-	ST6GAL2	NM_032528,p.G235R|NM_001142352,p.G235R|uc002tdr.3,p.G235R|ENST00000361686,p.G235R|ENST00000409382,p.G235R|NM_001142351,p.G235R|uc002tdq.3,p.G235R|uc002tds.3,p.G235R|ENST00000409087,p.G235R	protein_coding	uc002tds.3	nonsynonymous SNV	exon2	c.G703A	p.G235R	KAMKDYLTANKHGVRFRGKREAGLS	KAMKDYLTANKHRVRFRGKREAGLS	1.0	8.0	-	-	3703_2:107459731-107459731 C>T_KAMKDYLTANKHRVRFRGKREAGLS
6:41162337-41162337 C>T	0.0	3703	MELANOMA	-	-	-	-	TREML2	NM_024807,p.R204K|uc010jxm.1,p.R204K|ENST00000483722,p.R204K	protein_coding	uc010jxm.1	nonsynonymous SNV	exon3	c.G611A	p.R204K	FTATSTTSQGPRRTMGSQTVTASPS	FTATSTTSQGPRKTMGSQTVTASPS	1.0	8.0	-	-	3703_6:41162337-41162337 C>T_FTATSTTSQGPRKTMGSQTVTASPS
12:21196403-21196403 A>T	0.0	3703	MELANOMA	-	-	-	-	SLCO1B7	uc010sin.2,p.K241I|ENST00000421593,p.K241I|uc010sim.2,p.K288I|NM_001009562,p.K241I|ENST00000381541,p.K288I|ENST00000554957,p.K288I	 processed_transcript,protein_coding	uc010sin.2	nonsynonymous SNV	exon6	c.A722T	p.K241I	FFFLPLNPNKPQKERKVSLFLHVLK	FFFLPLNPNKPQIERKVSLFLHVLK	1.0	9.0	-	-	3703_12:21196403-21196403 A>T_FFFLPLNPNKPQIERKVSLFLHVLK
11:64120877-64120877 G>A	0.0	3703	MELANOMA	-	-	-	-	CCDC88B	NM_032251,p.E1248K|uc001oab.1,p.E79K|uc001nzy.3,p.E1248K|ENST00000359902,p.E400K|ENST00000356786,p.E1248K|uc001oaa.3,p.E400K|uc009ypo.2,p.E1245K	protein_coding, processed_transcript	uc009ypo.2	nonsynonymous SNV	exon22	c.G3733A	p.E1245K	SAQEEENRQLLAEVQALSRENRELL	SAQEEENRQLLAKVQALSRENRELL	5.0	1.0	-	-	3703_11:64120877-64120877 G>A_SAQEEENRQLLAKVQALSRENRELL
10:81373630-81373630 G>A	0.0	3703	MELANOMA	-	-	ID=COSM229161;OCCURENCE=1(skin)	-	SFTPA1	ENST00000428376,p.E170K|NM_001093770,p.E185K|uc001kao.3,p.E136K|uc009xrz.3,p.E100K|uc001kap.3,p.E170K|uc009xry.3,p.E185K|ENST00000398636,p.E170K|ENST00000372313,p.E111K|uc001kaq.3,p.E170K|NM_001164646,p.E121K|NM_001164644,p.E170K|ENST00000419470,p.E185K|NM_001164647,p.E170K|uc001kar.3,p.E170K|ENST00000372308,p.E170K|uc010qlt.2,p.E111K|uc021puu.1,p.E121K|NM_001164645,p.E136K|NM_005411,p.E170K	retained_intron, protein_coding	uc021puu.1	nonsynonymous SNV	exon6	c.G361A	p.E121K	AGGRIAVPRNPEENEAIASFVKKYN	AGGRIAVPRNPEKNEAIASFVKKYN	1.0	10.0	-	-	3703_10:81373630-81373630 G>A_AGGRIAVPRNPEKNEAIASFVKKYN
7:81388044-81388044 C>T	0.0	3703	MELANOMA	-	-	-	-	HGF	NM_000601,p.E111K|ENST00000423064,p.E111K|ENST00000222390,p.E111K|uc003uhm.3,p.E111K|ENST00000354224,p.E111K|ENST00000444829,p.E111K|uc003uhp.3,p.E111K|ENST00000457544,p.E111K|ENST00000412881,p.E111K|NM_001010931,p.E111K|uc003uhn.1,p.E111K|NM_001010933,p.E111K|uc003uho.1,p.E111K|ENST00000453411,p.E111K|uc022agw.1,p.E111K|uc003uhl.3,p.E111K|NM_001010932,p.E111K|NM_001010934,p.E111K	retained_intron, protein_coding	uc022agw.1	nonsynonymous SNV	exon3	c.G331A	p.E111K	FPFNSMSSGVKKEFGHEFDLYENKD	FPFNSMSSGVKKKFGHEFDLYENKD	5.0	10.0	-	-	3703_7:81388044-81388044 C>T_FPFNSMSSGVKKKFGHEFDLYENKD
14:20612573-20612573 G>A	0.0	3703	MELANOMA	-	-	-	-	OR4N5	uc010tla.2,p.E227K|ENST00000333629,p.E227K|NM_001004724,p.E227K	protein_coding	uc010tla.2	nonsynonymous SNV	exon1	c.G679A	p.E227K	LASYAVILCRIREHSSEGKSKAIST	LASYAVILCRIRKHSSEGKSKAIST	1.0	3.0	-	-	3703_14:20612573-20612573 G>A_LASYAVILCRIRKHSSEGKSKAIST
11:5411355-5411355 C>A	0.0	3703	MELANOMA	-	-	-	-	OR51M1	NM_001004756,p.Q243K|uc010qzc.2,p.Q243K|ENST00000328611,p.Q243K	protein_coding	uc010qzc.2	nonsynonymous SNV	exon1	c.C727A	p.Q243K	GLILHTVAGLASQEEQRRAFQTCTA	GLILHTVAGLASKEEQRRAFQTCTA	1.0	2.0	-	-	3703_11:5411355-5411355 C>A_GLILHTVAGLASKEEQRRAFQTCTA
6:47681964-47681964 G>A	0.0	3703	MELANOMA	-	-	-	-	GPR115	uc003ozb.1,p.R328K|uc003oyz.1,p.R385K|ENST00000327753,p.R328K|ENST00000283303,p.R328K|uc003oza.1,p.R328K|NM_153838,p.R328K|ENST00000371220,p.R385K	protein_coding	uc003ozb.1	nonsynonymous SNV	exon6	c.G983A	p.R328K	VNGLVLSVVLPERLQEIILTFEKIN	VNGLVLSVVLPEKLQEIILTFEKIN	1.0	3.0	-	-	3703_6:47681964-47681964 G>A_VNGLVLSVVLPEKLQEIILTFEKIN
3:193176911-193176911 C>T	0.0	3703	MELANOMA	-	-	-	-	ATP13A4	ENST00000295548,p.G545R|uc011bsr.1,p.G16R|NM_032279,p.G545R|uc003fte.1,p.G545R|uc003ftf.4,p.G251R|ENST00000392443,p.G526R|ENST00000342695,p.G545R|uc003ftd.3,p.G545R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bsr.1	nonsynonymous SNV	exon14	c.G46A	p.G16R	CHSLILLDGTIQGDPLDLKMFEATT	CHSLILLDGTIQRDPLDLKMFEATT	1.0	6.0	-	-	3703_3:193176911-193176911 C>T_CHSLILLDGTIQRDPLDLKMFEATT
13:113801733-113801733 G>A	0.0	3703	MELANOMA	-	-	-	-	F10	NM_000504,p.G263E|ENST00000375559,p.G263E|uc001vsy.3,p.G263E|ENST00000375551,p.G263E|uc001vsx.3,p.G263E|ENST00000409306,p.G263E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vsy.3	nonsynonymous SNV	exon7	c.G788A	p.G263E	LLINEENEGFCGGTILSEFYILTAA	LLINEENEGFCGETILSEFYILTAA	2.0	1.0	-	-	3703_13:113801733-113801733 G>A_LLINEENEGFCGETILSEFYILTAA
8:52321203-52321203 C>T	0.0	3703	MELANOMA	-	-	-	-	PXDNL	NM_144651,p.G994E|ENST00000522628,p.G260E|ENST00000356297,p.G994E|uc003xqu.4,p.G994E|ENST00000543296,p.G994E	retained_intron, protein_coding, nonsense_mediated_decay	uc003xqu.4	nonsynonymous SNV	exon17	c.G2981A	p.G994E	ATELSALNPHWEGNTVYQEARKIVG	ATELSALNPHWEENTVYQEARKIVG	2.0	9.0	-	-	3703_8:52321203-52321203 C>T_ATELSALNPHWEENTVYQEARKIVG
17:4937210-4937210 G>A	0.0	3703	MELANOMA	-	-	-	-	SLC52A1	uc002gap.4,p.P192S|ENST00000254853,p.P192S|NM_001104577,p.P192S|NM_017986,p.P192S|ENST00000424747,p.P192S|uc010ckx.3,p.P192S|uc010ckw.3,p.P70S|ENST00000512825,p.P192S|uc002gao.4,p.P192S	retained_intron, protein_coding	uc010ckx.3	nonsynonymous SNV	exon3	c.C574T	p.P192S	TSGPPLDFPERFPASTFFWALTALL	TSGPPLDFPERFSASTFFWALTALL	1.0	4.0	-	-	3703_17:4937210-4937210 G>A_TSGPPLDFPERFSASTFFWALTALL
11:45245971-45245971 G>A	1.0	3703	MELANOMA	-	-	-	-	PRDM11	ENST00000530656,p.A350T|NM_001256696,p.A316T|ENST00000424263,p.A316T|NM_001256695,p.A316T|ENST00000263765,p.A350T|uc031qaa.1,p.A316T|uc031qab.1,p.A316T|uc031pzz.1,p.A347T	protein_coding, processed_transcript	uc031qab.1	nonsynonymous SNV	exon7	c.G946A	p.A316T	IFKDVLEASLESAKVEAHQLALSTS	IFKDVLEASLESTKVEAHQLALSTS	5.0	9.0	-	-	3703_11:45245971-45245971 G>A_IFKDVLEASLESTKVEAHQLALSTS
15:43819247-43819247 C>A	1.0	3703	MELANOMA	-	-	-	-	MAP1A	ENST00000399453,p.P1859Q|uc001zrt.3,p.P1859Q|NM_002373,p.P1859Q|ENST00000382031,p.P2097Q|ENST00000300231,p.P1859Q	protein_coding	uc001zrt.3	nonsynonymous SNV	exon4	c.C5576A	p.P1859Q	PKDRPLPPAPLSPAPGPPTPAPESH	PKDRPLPPAPLSQAPGPPTPAPESH	5.0	10.0	-	-	3703_15:43819247-43819247 C>A_PKDRPLPPAPLSQAPGPPTPAPESH
19:41711993-41711993 C>T	0.0	3703	MELANOMA	-	-	-	-	CYP2S1	uc002opw.3,p.P432L|ENST00000542619,p.P157L|NM_030622,p.P432L|ENST00000310054,p.P432L	protein_coding, nonsense_mediated_decay	uc002opw.3	nonsynonymous SNV	exon8	c.C1295T	p.P432L	ADGRFRKHEAFLPFSLGKRVCLGEG	ADGRFRKHEAFLLFSLGKRVCLGEG	4.0	6.0	-	-	3703_19:41711993-41711993 C>T_ADGRFRKHEAFLLFSLGKRVCLGEG
8:106815111-106815111 C>T	0.0	3703	MELANOMA	-	-	-	-	ZFPM2	ENST00000378472,p.S665F|NM_012082,p.S934F|ENST00000517361,p.S802F|uc011lhs.2,p.S665F|ENST00000520492,p.S802F|ENST00000407775,p.S934F|uc003ymd.3,p.S934F	protein_coding, processed_transcript	uc011lhs.2	nonsynonymous SNV	exon6	c.C1994T	p.S665F	LKQPSPNGNLFSSHLATLQGLKVFS	LKQPSPNGNLFSFHLATLQGLKVFS	3.0	5.0	-	-	3703_8:106815111-106815111 C>T_LKQPSPNGNLFSFHLATLQGLKVFS
2:43015740-43015740 C>T	0.0	3703	MELANOMA	-	-	-	-	HAAO	ENST00000294973,p.E30K|NM_012205,p.E30K|uc002rst.4,p.E30K|uc010ynw.1,p.E30K	retained_intron, protein_coding	uc010ynw.1	nonsynonymous SNV	exon2	c.G88A	p.E30K	FQPPVCNKLMHQEQLKVMFIGGPNT	FQPPVCNKLMHQKQLKVMFIGGPNT	3.0	4.0	-	-	3703_2:43015740-43015740 C>T_FQPPVCNKLMHQKQLKVMFIGGPNT
X:117700054-117700054 G>A	0.0	3703	MELANOMA	-	-	-	-	DOCK11	NM_144658,p.M260I|ENST00000276202,p.M260I|uc004eqp.2,p.M260I|uc004eqq.2,p.M26I|ENST00000276204,p.M260I	protein_coding, processed_transcript	uc004eqq.2	nonsynonymous SNV	exon2	c.G78A	p.M26I	YSHYLAAETEQEMEEWLITLKKIIQ	YSHYLAAETEQEIEEWLITLKKIIQ	5.0	2.0	-	-	3703_X:117700054-117700054 G>A_YSHYLAAETEQEIEEWLITLKKIIQ
12:53207706-53207706 C>T	0.0	3703	MELANOMA	-	-	-	-	KRT4	ENST00000458244,p.G46E	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000458244	nonsynonymous SNV	exon1	c.G137A	p.G46E	SMSGGAGRCSSGGFGSKGACFGGAG	SMSGGAGRCSSGEFGSKGACFGGAG	1.0	4.0	unscreened	-	3703_12:53207706-53207706 C>T_SMSGGAGRCSSGEFGSKGACFGGAG
19:4511666-4511666 C>T	0.0	3703	MELANOMA	-	-	-	-	PLIN4	ENST00000301286,p.G755E|uc002mar.1,p.G755E|NM_001080400,p.G755E	protein_coding	uc002mar.1	nonsynonymous SNV	exon3	c.G2264A	p.G755E	SVLTGTKDAVSTGLTGAVKLAKGTV	SVLTGTKDAVSTELTGAVKLAKGTV	1.0	1.0	-	-	3703_19:4511666-4511666 C>T_SVLTGTKDAVSTELTGAVKLAKGTV
8:3205660-3205660 C>T	0.0	3703	MELANOMA	-	-	-	-	CSMD1	uc022aqr.1,p.G1110R|ENST00000542608,p.G1110R|ENST00000520002,p.G1111R|uc003wqe.3,p.G267R|ENST00000602723,p.G1111R|ENST00000400186,p.G1111R|ENST00000537824,p.G1110R|NM_033225,p.G1110R|ENST00000539096,p.G1110R|ENST00000602557,p.G1111R|uc011kwj.2,p.G503R	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon22	c.G3328A	p.G1110R	PRCVAECGASVKGNEGTLLSPNFPS	PRCVAECGASVKRNEGTLLSPNFPS	6.0	2.0	-	-	3703_8:3205660-3205660 C>T_PRCVAECGASVKRNEGTLLSPNFPS
12:8211871-8211871 G>A	0.0	3703	MELANOMA	-	-	-	-	C3AR1	ENST00000307637,p.S304F|NM_004054,p.S304F|uc021quj.1,p.S304F|uc001qtv.1,p.S304F	protein_coding	uc021quj.1	nonsynonymous SNV	exon1	c.C911T	p.S304F	THLKLFPSASSNSFYESELPQGFQD	THLKLFPSASSNFFYESELPQGFQD	5.0	9.0	-	-	3703_12:8211871-8211871 G>A_THLKLFPSASSNFFYESELPQGFQD
20:40944562-40944562 G>A	0.0	3703	MELANOMA	-	-	-	1	PTPRT	uc010ggj.3,p.S647L|ENST00000373187,p.S647L|NM_007050,p.S647L|ENST00000373193,p.S647L|uc002xkg.3,p.S647L|ENST00000373190,p.S647L|NM_133170,p.S647L|ENST00000356100,p.S647L|ENST00000373198,p.S647L|ENST00000373184,p.S647L|ENST00000373201,p.S647L	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon12	c.C1940T	p.S647L	KSRRAADIIECFSVPVSYRNASSLD	KSRRAADIIECFLVPVSYRNASSLD	1.0	5.0	-	-	3703_20:40944562-40944562 G>A_KSRRAADIIECFLVPVSYRNASSLD
17:34397893-34397893 C>T	1.0	3703	MELANOMA	-	-	-	-	CCL18	uc002hku.3,p.P52S|ENST00000004921,p.P52S|NM_002988,p.P52S	retained_intron, protein_coding	uc002hku.3	nonsynonymous SNV	exon2	c.C154T	p.P52S	PQKFIVDYSETSPQCPKPGVILLTK	PQKFIVDYSETSSQCPKPGVILLTK	4.0	9.0	-	-	3703_17:34397893-34397893 C>T_PQKFIVDYSETSSQCPKPGVILLTK
6:2833895-2833895 G>A	0.0	3703	MELANOMA	-	-	-	-	SERPINB1	uc021ykq.2,p.R212W|NM_030666,p.R363W|uc003mub.4,p.R363W|ENST00000537185,p.R212W|ENST00000380739,p.R363W	protein_coding, processed_transcript	uc021ykq.2	nonsynonymous SNV	exon8	c.C634T	p.R212W	NFTADHPFLFFIRHNSSGSILFLGR	NFTADHPFLFFIWHNSSGSILFLGR	7.0	8.0	-	-	3703_6:2833895-2833895 G>A_NFTADHPFLFFIWHNSSGSILFLGR
19:43920355-43920355 G>A	0.0	3703	MELANOMA	-	-	-	-	TEX101	ENST00000598265,p.G57R|NM_001130011,p.G57R|NM_031451,p.G75R|uc002owk.3,p.G75R|uc010xwo.2,p.G57R|ENST00000253435,p.G75R|ENST00000602198,p.G75R	protein_coding, processed_transcript	uc010xwo.2	nonsynonymous SNV	exon3	c.G169A	p.G57R	NWTTEEVETCDKGALCQETILIIKA	NWTTEEVETCDKRALCQETILIIKA	1.0	1.0	-	-	3703_19:43920355-43920355 G>A_NWTTEEVETCDKRALCQETILIIKA
21:41427756-41427756 C>T	0.0	3703	MELANOMA	-	-	ID=COSM1204567;OCCURENCE=1(large_intestine)	-	DSCAM	ENST00000400454,p.R1644Q|NM_001389,p.R1644Q|ENST00000404019,p.R1396Q|uc031rvr.1,p.R1644Q|NM_001271534,p.R1644Q|uc002yyq.1,p.R1644Q	protein_coding	uc031rvr.1	nonsynonymous SNV	exon29	c.G4931A	p.R1644Q	KSLAEMLMSKNTRTSDTLSKQQQTL	KSLAEMLMSKNTQTSDTLSKQQQTL	1.0	2.0	-	-	3703_21:41427756-41427756 C>T_KSLAEMLMSKNTQTSDTLSKQQQTL
19:35793567-35793567 A>G	0.0	3703	MELANOMA	-	-	-	-	MAG	uc002nyx.2,p.N396S|uc002nyy.2,p.N396S|uc002nyz.2,p.N396S|ENST00000392213,p.N396S|NM_002361,p.N396S|NM_001199216,p.N371S|NM_080600,p.N396S|uc010eds.2,p.N371S|ENST00000537831,p.N371S|ENST00000361922,p.N396S	retained_intron, protein_coding, processed_transcript	uc010eds.2	nonsynonymous SNV	exon7	c.A1112G	p.N371S	PEDDGEYWCVAENQYGQRATAFNLS	PEDDGEYWCVAESQYGQRATAFNLS	8.0	6.0	-	-	3703_19:35793567-35793567 A>G_PEDDGEYWCVAESQYGQRATAFNLS
4:70361117-70361117 G>A	0.0	3703	MELANOMA	-	-	-	-	UGT2B4	uc011cap.2,p.P19S|NM_001297616,p.P19S|ENST00000381096,p.P19S	protein_coding, processed_transcript	uc011cap.2	nonsynonymous SNV	exon2	c.C55T	p.P19S	HVSSTNGLDAVFPFGELLAELLKIP	HVSSTNGLDAVFSFGELLAELLKIP	1.0	7.0	-	-	3703_4:70361117-70361117 G>A_HVSSTNGLDAVFSFGELLAELLKIP
19:56244763-56244763 C>T	0.0	3703	MELANOMA	-	-	-	-	NLRP9	ENST00000332836,p.R145Q|NM_176820,p.R145Q|uc002qly.3,p.R145Q|ENST00000590200,p.R145Q	protein_coding	uc002qly.3	nonsynonymous SNV	exon2	c.G434A	p.R145Q	KELNDAYTAAARRHTVVLEGPDGIG	KELNDAYTAAARQHTVVLEGPDGIG	1.0	4.0	-	-	3703_19:56244763-56244763 C>T_KELNDAYTAAARQHTVVLEGPDGIG
20:62328250-62328250 G>A	1.0	3703	MELANOMA	-	-	-	-	TNFRSF6B	ENST00000369996,p.G44R|uc002yfy.3,p.G44R|NM_003823,p.G44R|uc002yfz.3,p.G44R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002yfz.3	nonsynonymous SNV	exon1	c.G130A	p.G44R	ETPTYPWRDAETGERLVCAQCPPGT	ETPTYPWRDAETRERLVCAQCPPGT	6.0	9.0	-	-	3703_20:62328250-62328250 G>A_ETPTYPWRDAETRERLVCAQCPPGT
19:54745907-54745907 A>C	0.0	3703	MELANOMA	-	-	-	-	LILRA6,LILRB3	ENST00000407860,p.M117R|uc002qep.1,p.M117R|uc002qeh.1,p.M117R|NM_024318,p.M117R|uc010erh.1,p.M117R	 protein_coding, processed_transcript, nonsense_mediated_decay,retained_intron	uc010erh.1	nonsynonymous SNV	exon3	c.T350G	p.M117R	GWSEPSDPLELVMTGAYSKPTLSAL	GWSEPSDPLELVRTGAYSKPTLSAL	3.0	1.0	unscreened	-	3703_19:54745907-54745907 A>C_GWSEPSDPLELVRTGAYSKPTLSAL
19:38858385-38858385 G>A	0.0	3703	MELANOMA	-	-	-	-	CATSPERG	uc002oih.4,p.E967K|NM_021185,p.E967K|uc002oig.4,p.E927K|ENST00000410018,p.E927K|uc002oif.4,p.E607K|ENST00000409235,p.E967K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oih.4	nonsynonymous SNV	exon25	c.G2899A	p.E967K	PTLDSLKDYSEDEIYRFNSPLDKTN	PTLDSLKDYSEDKIYRFNSPLDKTN	4.0	7.0	-	-	3703_19:38858385-38858385 G>A_PTLDSLKDYSEDKIYRFNSPLDKTN
2:96689126-96689126 C>A	0.0	3703	MELANOMA	-	-	-	-	GPAT2	NM_207328,p.W653C|uc010yuh.2,p.W582C|ENST00000434632,p.W653C|uc002sve.3,p.W455C|uc002svd.3,p.W472C|ENST00000453542,p.W582C|ENST00000359548,p.W653C|uc002svf.3,p.W653C|uc002svg.3,p.W532C	retained_intron, protein_coding, processed_transcript	uc010yuh.2	nonsynonymous SNV	exon17	c.G1746T	p.W582C	DTGRQRLSRKLLWKPSGDFTDSDSD	DTGRQRLSRKLLCKPSGDFTDSDSD	1.0	5.0	-	-	3703_2:96689126-96689126 C>A_DTGRQRLSRKLLCKPSGDFTDSDSD
3:50415234-50415234 C>T	0.0	3703	MELANOMA	-	-	-	-	CACNA2D2	NM_001005505,p.G494R|ENST00000429770,p.G494R|ENST00000479441,p.G494R|NM_001291101,p.G425R|NM_001174051,p.G494R|uc003daq.3,p.G494R|uc003dap.3,p.G494R|NM_006030,p.G494R|ENST00000435965,p.G494R|ENST00000423994,p.G494R|ENST00000360963,p.G425R|ENST00000424201,p.G494R|ENST00000266039,p.G494R|ENST00000395083,p.G494R	retained_intron, protein_coding, processed_transcript	uc003daq.3	nonsynonymous SNV	exon16	c.G1480A	p.G494R	QVQWTNVYEDALGLGLVVTGTLPVF	QVQWTNVYEDALRLGLVVTGTLPVF	1.0	3.0	-	-	3703_3:50415234-50415234 C>T_QVQWTNVYEDALRLGLVVTGTLPVF
12:56552250-56552250 G>A	1.0	3703	MELANOMA	-	-	-	-	MYL6	ENST00000536128,p.G22E|uc010sqd.2,p.G22E|ENST00000549566,p.G22E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sqd.2	nonsynonymous SNV	exon1	c.G65A	p.G22E	GRIGDERQEETGGGRGEGRGRRQRE	GRIGDERQEETGEGRGEGRGRRQRE	10.0	10.0	-	-	3703_12:56552250-56552250 G>A_GRIGDERQEETGEGRGEGRGRRQRE
20:62328250-62328250 G>A	1.0	3703	MELANOMA	-	-	-	-	TNFRSF6B	ENST00000318100,p.R1346K|ENST00000482936,p.R1346K	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000482936	nonsynonymous SNV	exon35	c.G4037A	p.R1346K	RNTHLPLAGRRDRGAAGVRPVPPRH	RNTHLPLAGRRDKGAAGVRPVPPRH	6.0	9.0	unscreened	-	3703_20:62328250-62328250 G>A_RNTHLPLAGRRDKGAAGVRPVPPRH
6:55929406-55929406 T>A	0.0	3703	MELANOMA	-	-	-	-	COL21A1	uc003pcr.3,p.K72I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pcr.3	nonsynonymous SNV	exon8	c.A215T	p.K72I	IKVKKVFRVKREKMEDREFQGNREF	IKVKKVFRVKREIMEDREFQGNREF	4.0	10.0	-	-	3703_6:55929406-55929406 T>A_IKVKKVFRVKREIMEDREFQGNREF
11:65427250-65427250 C>T	1.0	3703	MELANOMA	-	-	-	-	RELA	NM_001145138,p.R146H|ENST00000308639,p.R146H|uc001ofh.3,p.R146H	retained_intron, protein_coding, nonsense_mediated_decay	uc001ofh.3	nonsynonymous SNV	exon6	c.G437A	p.R146H	IQTNNNPFQEEQRGDYDLNAVRLCF	IQTNNNPFQEEQHGDYDLNAVRLCF	8.0	1.0	-	-	3703_11:65427250-65427250 C>T_IQTNNNPFQEEQHGDYDLNAVRLCF
12:117724040-117724040 C>T	0.0	3703	MELANOMA	-	-	-	-	NOS1	uc001twm.2,p.E387K|uc001twn.2,p.E387K|NM_001204218,p.E387K|uc021ren.1,p.E51K|NM_000620,p.E387K|NM_001204214,p.E51K|uc021reo.1,p.E51K|NM_001204213,p.E51K	protein_coding, processed_transcript	uc021reo.1	nonsynonymous SNV	exon5	c.G151A	p.E51K	KRFGSKAHMERLEEVNKEIDTTSTY	KRFGSKAHMERLKEVNKEIDTTSTY	1.0	1.0	-	-	3703_12:117724040-117724040 C>T_KRFGSKAHMERLKEVNKEIDTTSTY
11:65427250-65427250 C>T	1.0	3703	MELANOMA	-	-	-	-	RELA	uc021qlq.1,p.R149H|NM_001243985,p.R149H|uc001off.3,p.R149H|uc009yqr.3,p.R96H|NM_021975,p.R149H|ENST00000534558,p.R140H|uc010ron.2,p.R160H|ENST00000525693,p.R149H|ENST00000526283,p.R149H|ENST00000527749,p.R118H|ENST00000406246,p.R149H|uc001ofg.3,p.R149H|NM_001243984,p.R149H|ENST00000532999,p.R160H|uc001ofe.2,p.R149H	retained_intron, protein_coding, nonsense_mediated_decay	uc021qlq.1	nonsynonymous SNV	exon6	c.G446A	p.R149H	NNNPFQVPIEEQRGDYDLNAVRLCF	NNNPFQVPIEEQHGDYDLNAVRLCF	8.0	1.0	-	-	3703_11:65427250-65427250 C>T_NNNPFQVPIEEQHGDYDLNAVRLCF
1:32745524-32745524 C>T	0.0	3703	MELANOMA	-	-	-	1	LCK	uc001buy.3,p.T375I|uc001bva.3,p.T382I|ENST00000333070,p.T405I|ENST00000336890,p.T375I|NM_005356,p.T375I|NM_001042771,p.T375I|uc010ohc.1,p.T419I|uc001bux.3,p.T375I|uc001buz.3,p.T405I|ENST00000373564,p.T382I	retained_intron, protein_coding	uc010ohc.1	nonsynonymous SNV	exon10	c.C1256T	p.T419I	RDLRAANILVSDTLSCKIADFGLAR	RDLRAANILVSDILSCKIADFGLAR	4.0	5.0	-	-	3703_1:32745524-32745524 C>T_RDLRAANILVSDILSCKIADFGLAR
12:11461706-11461706 G>T	0.0	3703	MELANOMA	-	-	-	-	PRB4	NM_001261399,p.P71T|ENST00000535904,p.P71T|uc001qzt.4,p.P71T|uc001qzf.2,p.P71T|NM_002723,p.P71T|uc031qgh.1,p.P71T|ENST00000279575,p.P71T|ENST00000445719,p.P71T	protein_coding	uc031qgh.1	nonsynonymous SNV	exon3	c.C211A	p.P71T	GPPPQGGNQSQGPPPPPGKPEGRPP	GPPPQGGNQSQGTPPPPGKPEGRPP	1.0	10.0	unscreened	-	3703_12:11461706-11461706 G>T_GPPPQGGNQSQGTPPPPGKPEGRPP
19:36349734-36349734 G>A	0.0	3703	MELANOMA	-	-	-	-	KIRREL2	ENST00000262625,p.G164R|ENST00000592409,p.G164R|NM_199180,p.G164R|uc002oca.4,p.G114R|ENST00000586102,p.G164R|ENST00000360202,p.G164R|uc002obz.4,p.G164R|NM_032123,p.G164R|ENST00000347900,p.G114R|NM_199179,p.G114R|uc002ocd.4,p.G161R|uc002ocb.4,p.G164R	protein_coding	uc002ocd.4	nonsynonymous SNV	exon4	c.G481A	p.G161R	ARPTPELLWFRDGVLLDGATFHQTL	ARPTPELLWFRDRVLLDGATFHQTL	1.0	4.0	-	-	3703_19:36349734-36349734 G>A_ARPTPELLWFRDRVLLDGATFHQTL
19:54603039-54603039 C>T	0.0	3703	MELANOMA	-	-	-	-	OSCAR	uc002qdd.3,p.V49I|NM_001282349,p.V24I|NM_133169,p.V24I|ENST00000358375,p.V24I|ENST00000284648,p.V24I|uc002qcz.3,p.V24I	protein_coding	uc002qdd.3	nonsynonymous SNV	exon3	c.G145A	p.V49I	LWPLCHTDITPSVPPASYHPKPWLG	LWPLCHTDITPSIPPASYHPKPWLG	2.0	7.0	-	-	3703_19:54603039-54603039 C>T_LWPLCHTDITPSIPPASYHPKPWLG
6:55929406-55929406 T>A	0.0	3703	MELANOMA	-	-	-	-	COL21A1	uc011dxg.2,p.E87D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxg.2	nonsynonymous SNV	exon10	c.A261T	p.E87D	LPGIQGKKGQKGENGRQGIPGQQGI	LPGIQGKKGQKGDNGRQGIPGQQGI	4.0	10.0	-	-	3703_6:55929406-55929406 T>A_LPGIQGKKGQKGDNGRQGIPGQQGI
6:55929406-55929406 T>A	0.0	3703	MELANOMA	-	-	-	-	COL21A1	ENST00000244728,p.E714D|uc010jzz.3,p.E99D|uc003pcs.3,p.E714D|ENST00000370819,p.E711D|ENST00000370808,p.E114D|uc011dxh.3,p.E114D|NM_030820,p.E714D|ENST00000535941,p.E714D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxh.3	nonsynonymous SNV	exon11	c.A342T	p.E114D	NQGEKGIQGQKGENGRQGIPGQQGI	NQGEKGIQGQKGDNGRQGIPGQQGI	4.0	10.0	-	-	3703_6:55929406-55929406 T>A_NQGEKGIQGQKGDNGRQGIPGQQGI
19:57175863-57175863 G>A	0.0	3703	MELANOMA	-	-	-	-	ZNF835	NM_001005850,p.S235L|ENST00000537055,p.S235L|uc031rne.1,p.S235L|uc010ygn.2,p.S235L	protein_coding	uc031rne.1	nonsynonymous SNV	exon1	c.C704T	p.S235L	ACAQCAKAFRNRSSLIEHQRIHTGE	ACAQCAKAFRNRLSLIEHQRIHTGE	1.0	5.0	-	-	3703_19:57175863-57175863 G>A_ACAQCAKAFRNRLSLIEHQRIHTGE
15:81572043-81572043 G>A	0.0	3703	MELANOMA	-	-	-	-	IL16	uc010blq.1,p.E337K|ENST00000302987,p.E337K|ENST00000559388,p.E337K|ENST00000360547,p.E337K|uc021ssh.1,p.E337K|NM_001172128,p.E337K|NM_172217,p.E337K|ENST00000559383,p.E337K|ENST00000560241,p.E337K|ENST00000394660,p.E337K|uc021ssg.1,p.E337K|uc002bgg.3,p.E337K|uc010unp.2,p.E379K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ssh.1	nonsynonymous SNV	exon7	c.G1009A	p.E337K	TCITKDSSSFALESPSAPISTAKPN	TCITKDSSSFALKSPSAPISTAKPN	4.0	4.0	-	-	3703_15:81572043-81572043 G>A_TCITKDSSSFALKSPSAPISTAKPN
1:159900130-159900130 C>T	0.0	3703	MELANOMA	-	-	ID=COSM1688925;OCCURENCE=1(skin)	-	IGSF9	NM_001135050,p.G638E|ENST00000361509,p.G622E|uc001fur.2,p.G638E|uc001fuq.2,p.G622E|ENST00000368094,p.G638E|NM_020789,p.G622E	protein_coding, processed_transcript	uc001fur.2	nonsynonymous SNV	exon15	c.G1913A	p.G638E	PPRGLVAVRTPRGVLLHWDPPELVP	PPRGLVAVRTPREVLLHWDPPELVP	1.0	7.0	-	-	3703_1:159900130-159900130 C>T_PPRGLVAVRTPREVLLHWDPPELVP
4:68795709-68795709 G>A	0.0	3703	MELANOMA	-	-	-	-	TMPRSS11A	ENST00000508048,p.P123S|ENST00000334830,p.P127S|ENST00000513536,p.P104S|ENST00000396188,p.P124S|NM_182606,p.P127S|uc003hdr.1,p.P127S|NM_001114387,p.P124S|uc003hds.1,p.P124S	protein_coding	uc003hds.1	nonsynonymous SNV	exon5	c.C370T	p.P124S	GVKVDVIMVFQFPSTEQRAVREKKI	GVKVDVIMVFQFSSTEQRAVREKKI	1.0	5.0	-	-	3703_4:68795709-68795709 G>A_GVKVDVIMVFQFSSTEQRAVREKKI
9:71628009-71628009 C>T	0.0	3703	MELANOMA	-	-	-	-	PRKACG	uc004agy.3,p.E334K|NM_002732,p.E334K|ENST00000377276,p.E334K	protein_coding	uc004agy.3	nonsynonymous SNV	exon1	c.G1000A	p.E334K	PGDASNFDDYEEEELRISINEKCAK	PGDASNFDDYEEKELRISINEKCAK	1.0	3.0	-	-	3703_9:71628009-71628009 C>T_PGDASNFDDYEEKELRISINEKCAK
19:56228167-56228167 G>A	0.0	3703	MELANOMA	-	-	ID=COSM225784;OCCURENCE=1(NS)	-	NLRP9	uc002qly.3,p.P753S|NM_176820,p.P753S|ENST00000590200,p.P753S|ENST00000332836,p.P753S	protein_coding	uc002qly.3	nonsynonymous SNV	exon5	c.C2257T	p.P753S	NSKLKHLSLVENPLRDEGMTLLCEA	NSKLKHLSLVENSLRDEGMTLLCEA	1.0	3.0	-	-	3703_19:56228167-56228167 G>A_NSKLKHLSLVENSLRDEGMTLLCEA
9:100892099-100892099 G>A	0.0	3703	MELANOMA	-	-	-	-	CORO2A	ENST00000343933,p.S315F|ENST00000375077,p.S315F|uc004ayl.3,p.S315F|NM_003389,p.S315F|uc004aym.3,p.S315F|NM_052820,p.S315F	protein_coding	uc004aym.3	nonsynonymous SNV	exon8	c.C944T	p.S315F	DKPHLSYLTEYRSYNPQKGIGVMPK	DKPHLSYLTEYRFYNPQKGIGVMPK	1.0	8.0	-	-	3703_9:100892099-100892099 G>A_DKPHLSYLTEYRFYNPQKGIGVMPK
18:29049138-29049138 C>T	0.0	3703	MELANOMA	0.0046	-	-	-	DSG3	uc002kws.3,p.R575W|ENST00000257189,p.R575W|NM_001944,p.R575W	protein_coding	uc002kws.3	nonsynonymous SNV	exon12	c.C1723T	p.R575W	HISLVLTDSQNNRCEMPRSLTLEVC	HISLVLTDSQNNWCEMPRSLTLEVC	1.0	9.0	-	-	3703_18:29049138-29049138 C>T_HISLVLTDSQNNWCEMPRSLTLEVC
19:36304113-36304113 G>A	0.0	3703	MELANOMA	-	-	-	-	PRODH2	ENST00000301175,p.T24I|NM_021232,p.T24I|uc002obx.1,p.T24I	retained_intron, protein_coding	uc002obx.1	nonsynonymous SNV	exon1	c.C71T	p.T24I	LASQSVGITNVRTVFSNVFNNTTAF	LASQSVGITNVRIVFSNVFNNTTAF	1.0	8.0	-	-	3703_19:36304113-36304113 G>A_LASQSVGITNVRIVFSNVFNNTTAF
7:82784917-82784917 C>T	0.0	3703	MELANOMA	-	-	-	-	PCLO	NM_033026,p.G347E|NM_014510,p.G347E|ENST00000423517,p.G347E|uc003uhv.2,p.G347E|uc003uhx.2,p.G347E|ENST00000333891,p.G347E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon2	c.G1040A	p.G347E	PSGLTKPLAQQPGTVKPPVQPPGTT	PSGLTKPLAQQPETVKPPVQPPGTT	1.0	9.0	-	-	3703_7:82784917-82784917 C>T_PSGLTKPLAQQPETVKPPVQPPGTT
1:196953220-196953220 C>T	0.0	3703	MELANOMA	-	-	ID=COSM1724743,COSM901602;OCCURENCE=2(NS),2(endometrium)	-	CFHR5	ENST00000367414,p.S152L|NM_030787,p.S128L|uc001gts.4,p.S128L|ENST00000256785,p.S128L	protein_coding	uc001gts.4	nonsynonymous SNV	exon3	c.C383T	p.S128L	TGYSLQNNEKNISCVERGWSTPPIC	TGYSLQNNEKNILCVERGWSTPPIC	1.0	1.0	-	-	3703_1:196953220-196953220 C>T_TGYSLQNNEKNILCVERGWSTPPIC
17:2203328-2203328 G>A	1.0	3703	MELANOMA	-	-	-	-	SMG6	uc002fub.1,p.S240F|ENST00000544865,p.S209F|NM_017575,p.S240F|ENST00000263073,p.S240F|uc031qxy.1,p.S209F	retained_intron, protein_coding, processed_transcript	uc031qxy.1	nonsynonymous SNV	exon2	c.C626T	p.S209F	ETHDDPARGRPGSAKRYSRSDKRRN	ETHDDPARGRPGFAKRYSRSDKRRN	7.0	8.0	-	-	3703_17:2203328-2203328 G>A_ETHDDPARGRPGFAKRYSRSDKRRN
X:83129094-83129094 G>A	0.0	3703	MELANOMA	-	-	-	-	CYLC1	uc004eei.2,p.D460N|NM_021118,p.D460N|ENST00000329312,p.D460N|uc004eeh.2,p.D459N	protein_coding	uc004eei.2	nonsynonymous SNV	exon4	c.G1378A	p.D460N	SEPKGDSKKGKKDEKKGKKDSKKDD	SEPKGDSKKGKKNEKKGKKDSKKDD	1.0	10.0	-	-	3703_X:83129094-83129094 G>A_SEPKGDSKKGKKNEKKGKKDSKKDD
6:147830509-147830509 C>T	0.0	3703	MELANOMA	-	-	-	-	SAMD5	ENST00000566741,p.P50S	protein_coding	ENST00000566741	nonsynonymous SNV	exon1	c.C148T	p.P50S	KLVRDGIHLSKPPYSRKVLLCRYLQ	KLVRDGIHLSKPSYSRKVLLCRYLQ	1.0	9.0	unscreened	-	3703_6:147830509-147830509 C>T_KLVRDGIHLSKPSYSRKVLLCRYLQ
17:21319870-21319870 C>T	0.0	3703	MELANOMA	-	-	ID=COSM705914;OCCURENCE=1(lung)	-	KCNJ12,KCNJ18	ENST00000583088,p.P406S|uc002gyv.1,p.P406S|uc021tst.1,p.P406S|uc021tss.1,p.P406S|NM_021012,p.P406S|NM_001194958,p.P406S|ENST00000331718,p.P406S	protein_coding	uc021tst.1	nonsynonymous SNV	exon1	c.C1216T	p.P406S	GDQDGRSRDGLSPQARHDFDRLQAG	GDQDGRSRDGLSSQARHDFDRLQAG	1.0	1.0	-	-	3703_17:21319870-21319870 C>T_GDQDGRSRDGLSSQARHDFDRLQAG
10:55955511-55955511 T>G	0.0	3703	MELANOMA	-	-	-	-	PCDH15	NM_001142764,p.T413P|uc010qhq.2,p.T418P|uc010qhv.1,p.T413P|uc010qhy.1,p.T418P|NM_001142765,p.T413P|ENST00000395433,p.T391P|uc010qhr.2,p.T413P|ENST00000320301,p.T413P|ENST00000395432,p.T376P|uc010qhx.1,p.T413P|uc021pqx.1,p.T413P|ENST00000395430,p.T413P|ENST00000373965,p.T413P|ENST00000448885,p.T413P|NM_001142763,p.T418P|uc001jjw.3,p.T413P|ENST00000437009,p.T413P|ENST00000414778,p.T418P|ENST00000395446,p.T413P|uc010qht.2,p.T413P|ENST00000395440,p.T413P|uc010qia.1,p.T391P|ENST00000361849,p.T413P|NM_001142767,p.T376P|ENST00000373957,p.T391P|uc021pqy.1,p.T413P|uc001jjv.1,p.T391P|uc001jju.1,p.T413P|NM_001142766,p.T413P|uc010qhz.1,p.T413P|NM_001142773,p.T391P|NM_033056,p.T413P|ENST00000395438,p.T413P|uc010qib.1,p.T391P|NM_001142768,p.T391P|uc021pqw.1,p.T418P|uc010qhw.1,p.T376P|ENST00000395445,p.T413P|uc021pqz.1,p.T391P|ENST00000409834,p.T17P|ENST00000373955,p.T413P|uc021pqv.1,p.T413P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon9	c.A1171C	p.T391P	QGYILESAPVGATISDSLNLTSPLR	QGYILESAPVGAPISDSLNLTSPLR	4.0	8.0	-	-	3703_10:55955511-55955511 T>G_QGYILESAPVGAPISDSLNLTSPLR
12:95926609-95926609 C>T	0.0	3703	MELANOMA	-	-	-	-	USP44	ENST00000552440,p.S475N	retained_intron, protein_coding, processed_transcript	ENST00000552440	nonsynonymous SNV	exon1	c.G1424A	p.S475N	NVVNNIFHGQLLSQQSVEGFPPNQL	NVVNNIFHGQLLNQQSVEGFPPNQL	1.0	1.0	unscreened	-	3703_12:95926609-95926609 C>T_NVVNNIFHGQLLNQQSVEGFPPNQL
X:70472589-70472589 G>A	0.0	3703	MELANOMA	-	-	-	2	ZMYM3	ENST00000373981,p.P173S|NM_001171163,p.P173S|uc004dzi.2,p.P173S|ENST00000373984,p.P173S|uc004dzj.2,p.P173S|uc004dzh.2,p.P173S|NM_005096,p.P173S|ENST00000373988,p.P173S|ENST00000373982,p.P173S|ENST00000314425,p.P173S|ENST00000353904,p.P173S|ENST00000373998,p.P173S|ENST00000373978,p.P173S|uc004dzl.4,p.P173S|NM_001171162,p.P173S|NM_201599,p.P173S	protein_coding, processed_transcript	uc004dzl.4	nonsynonymous SNV	exon2	c.C517T	p.P173S	ETTSIATARRGSPGQEEELPQGQPQ	ETTSIATARRGSSGQEEELPQGQPQ	7.0	1.0	-	-	3703_X:70472589-70472589 G>A_ETTSIATARRGSSGQEEELPQGQPQ
2:27804563-27804563 A>T	0.0	3703	MELANOMA	-	-	-	-	C2orf16	ENST00000408964,p.R1708S|uc002rkz.4,p.R1708S|NM_032266,p.R1708S	protein_coding	uc002rkz.4	nonsynonymous SNV	exon1	c.A5124T	p.R1708S	SPSQRSHRGPSERRHHSPSKRSHRS	SPSQRSHRGPSESRHHSPSKRSHRS	1.0	6.0	unscreened	-	3703_2:27804563-27804563 A>T_SPSQRSHRGPSESRHHSPSKRSHRS
19:54603039-54603039 C>T	0.0	3703	MELANOMA	-	-	-	-	OSCAR	NM_206818,p.V24M|uc002qda.3,p.V24M|ENST00000359649,p.V24M|ENST00000356532,p.V24M|NM_130771,p.V24M|uc002qcy.3,p.V24M	protein_coding	uc002qda.3	nonsynonymous SNV	exon2	c.G70A	p.V24M	LWPLCHTDITPSVAIIVPPASYHPK	LWPLCHTDITPSMAIIVPPASYHPK	2.0	7.0	-	-	3703_19:54603039-54603039 C>T_LWPLCHTDITPSMAIIVPPASYHPK
X:22196406-22196406 C>T	0.0	3703	MELANOMA	-	-	-	-	PHEX	NM_000444,p.A500V|uc011mjs.2,p.A403V|uc011mjr.2,p.A500V|ENST00000418858,p.A203V|ENST00000379374,p.A500V|NM_001282754,p.A500V|ENST00000537599,p.A500V|uc004dah.3,p.A500V|ENST00000535894,p.A403V	protein_coding, processed_transcript	uc011mjs.2	nonsynonymous SNV	exon13	c.C1208T	p.A403V	VNEDLKAIKFSEADYFGNVLQTRKY	VNEDLKAIKFSEVDYFGNVLQTRKY	3.0	2.0	-	-	3703_X:22196406-22196406 C>T_VNEDLKAIKFSEVDYFGNVLQTRKY
1:204953197-204953197 A>G	0.0	3703	MELANOMA	-	-	-	-	NFASC	ENST00000367172,p.N838S|uc010pra.2,p.N834S|ENST00000539706,p.N834S|uc010prb.2,p.N849S|ENST00000404907,p.N834S|ENST00000338586,p.N838S|ENST00000430393,p.N825S|NM_001160332,p.N834S|ENST00000338515,p.N838S|ENST00000513543,p.N834S|ENST00000367171,p.N823S|ENST00000404076,p.N817S|uc001hbk.1,p.N644S|NM_001160331,p.N849S|ENST00000367170,p.N838S|uc010prc.2,p.N405S|ENST00000360049,p.N834S|uc001hbi.3,p.N834S|NM_015090,p.N834S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010prc.2	nonsynonymous SNV	exon21	c.A1214G	p.N405S	RAAPTEVKVRVMNSTAISLQWNRVY	RAAPTEVKVRVMSSTAISLQWNRVY	2.0	4.0	-	-	3703_1:204953197-204953197 A>G_RAAPTEVKVRVMSSTAISLQWNRVY
1:180905588-180905588 G>A	1.0	3703	MELANOMA	-	-	-	-	KIAA1614	uc001gok.2,p.R848K|ENST00000367587,p.R469K|NM_020950,p.R848K|ENST00000367588,p.R848K|uc001gol.1,p.R469K	protein_coding, processed_transcript	uc001gol.1	nonsynonymous SNV	exon2	c.G1406A	p.R469K	QTEPVGIPRPPSRSAVLRTCELPPS	QTEPVGIPRPPSKSAVLRTCELPPS	4.0	5.0	-	-	3703_1:180905588-180905588 G>A_QTEPVGIPRPPSKSAVLRTCELPPS
19:53014718-53014718 C>T	0.0	3703	MELANOMA	-	-	-	-	ZNF578	NM_001099694,p.R362C|ENST00000421239,p.R362C|uc002pzp.4,p.R362C	protein_coding, processed_transcript	uc002pzp.4	nonsynonymous SNV	exon6	c.C1084T	p.R362C	KSFSYKSSLRCHRRLHTGIKPYKCN	KSFSYKSSLRCHCRLHTGIKPYKCN	4.0	4.0	-	-	3703_19:53014718-53014718 C>T_KSFSYKSSLRCHCRLHTGIKPYKCN
8:75227516-75227516 C>T	0.0	3703	MELANOMA	-	-	ID=COSM3699162;OCCURENCE=1(large_intestine)	-	JPH1	uc003yag.1,p.R104H|NM_020647,p.R240H|ENST00000342232,p.R240H|uc003yae.3,p.R240H|uc003yaf.3,p.R240H	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yag.1	nonsynonymous SNV	exon2	c.G311A	p.R104H	SKSSISSKRSSVRSDAAMSRISSSD	SKSSISSKRSSVHSDAAMSRISSSD	3.0	4.0	-	-	3703_8:75227516-75227516 C>T_SKSSISSKRSSVHSDAAMSRISSSD
X:54324690-54324690 T>A	0.0	3703	MELANOMA	-	-	-	-	WNK3	uc004dtc.2,p.K439I|ENST00000375159,p.K439I|ENST00000354646,p.K439I|uc004dtd.2,p.K439I|ENST00000375169,p.K439I|NM_020922,p.K439I|NM_001002838,p.K439I	protein_coding	uc004dtd.2	nonsynonymous SNV	exon7	c.A1316T	p.K439I	ALRLWVEDPKKLKGKHKDNEAIEFS	ALRLWVEDPKKLIGKHKDNEAIEFS	1.0	2.0	-	-	3703_X:54324690-54324690 T>A_ALRLWVEDPKKLIGKHKDNEAIEFS
1:157667100-157667100 T>C	0.0	3703	MELANOMA	-	-	-	-	FCRL3	uc001frb.3,p.Q225R|ENST00000368184,p.Q225R|uc001frc.1,p.Q225R|uc001fqz.4,p.Q225R|NM_052939,p.Q225R|ENST00000485028,p.Q225R|ENST00000496769,p.Q225R|ENST00000368186,p.Q225R|ENST00000492769,p.Q225R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001frc.1	nonsynonymous SNV	exon6	c.A674G	p.Q225R	TQLSPQRPDVQLQFSLFRDSQTLGL	TQLSPQRPDVQLRFSLFRDSQTLGL	3.0	6.0	-	-	3703_1:157667100-157667100 T>C_TQLSPQRPDVQLRFSLFRDSQTLGL
7:37907434-37907434 G>A	0.0	3703	MELANOMA	-	-	-	-	NME8	ENST00000199447,p.R251Q|ENST00000440017,p.R251Q|uc003tfn.3,p.R251Q|NM_016616,p.R251Q	retained_intron, protein_coding, nonsense_mediated_decay	uc003tfn.3	nonsynonymous SNV	exon11	c.G752A	p.R251Q	ETEPQTDTEPNERSEDQPEVEAQVT	ETEPQTDTEPNEQSEDQPEVEAQVT	1.0	9.0	-	-	3703_7:37907434-37907434 G>A_ETEPQTDTEPNEQSEDQPEVEAQVT
2:179429054-179429054 C>T	0.0	3703	MELANOMA	-	-	-	-	TTN	ENST00000460472,p.E18204K|ENST00000591111,p.E25628K|uc031rqc.1,p.E27269K|ENST00000342992,p.E24701K|uc031rqd.1,p.E25628K|uc021vtb.2,p.E18204K|NM_001256850,p.E25628K|uc021vta.2,p.E18329K|ENST00000589042,p.E27269K|uc021vsy.2,p.E24701K|ENST00000359218,p.E18329K|NM_003319,p.E18204K|ENST00000342175,p.E18396K|NM_133378,p.E24701K|uc021vsz.2,p.E18396K|NM_001267550,p.E27269K|NM_133432,p.E18329K|NM_133437,p.E18396K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G76882A	p.E25628K	PSDSSGAITARDEIDAPNASLDPKY	PSDSSGAITARDKIDAPNASLDPKY	3.0	4.0	-	-	3703_2:179429054-179429054 C>T_PSDSSGAITARDKIDAPNASLDPKY
12:119943060-119943060 G>A	0.0	3703	MELANOMA	-	-	-	-	CCDC60	uc001txe.3,p.D279N|ENST00000327554,p.D279N|NM_178499,p.D279N	protein_coding, processed_transcript	uc001txe.3	nonsynonymous SNV	exon7	c.G835A	p.D279N	VNTQVTSSKDIEDNESSSTKPDEEP	VNTQVTSSKDIENNESSSTKPDEEP	1.0	1.0	-	-	3703_12:119943060-119943060 G>A_VNTQVTSSKDIENNESSSTKPDEEP
12:18854511-18854511 G>A	0.0	3703	MELANOMA	-	-	-	-	PLCZ1	ENST00000538330,p.S96F|uc001rdu.2,p.S96F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rdu.2	nonsynonymous SNV	exon5	c.C287T	p.S96F	EEDKFKESEVLESVLGDNQDKETGV	EEDKFKESEVLEFVLGDNQDKETGV	1.0	3.0	unscreened	-	3703_12:18854511-18854511 G>A_EEDKFKESEVLEFVLGDNQDKETGV
8:99101486-99101486 G>A	0.0	3703	MELANOMA	-	-	-	-	ERICH5	uc003yih.1,p.E81K|NM_173549,p.E81K|ENST00000318528,p.E81K	protein_coding	uc003yih.1	nonsynonymous SNV	exon2	c.G241A	p.E81K	AEPTANGVKPLQEQPLAKDVAPGRD	AEPTANGVKPLQKQPLAKDVAPGRD	1.0	6.0	-	-	3703_8:99101486-99101486 G>A_AEPTANGVKPLQKQPLAKDVAPGRD
15:83224663-83224663 G>A	0.0	3703	MELANOMA	-	-	-	-	CPEB1	ENST00000570229,p.L122F	 protein_coding, processed_transcript, nonsense_mediated_decay,retained_intron	ENST00000570229	nonsynonymous SNV	exon3	c.C364T	p.L122F	AVLGPPRSSQRPLQHRERGQAAPTS	AVLGPPRSSQRPFQHRERGQAAPTS	4.0	7.0	unscreened	-	3703_15:83224663-83224663 G>A_AVLGPPRSSQRPFQHRERGQAAPTS
4:71508317-71508317 C>T	0.0	3703	MELANOMA	-	-	-	-	ENAM	ENST00000396073,p.P392S|NM_031889,p.P392S|uc011caw.1,p.P392S	retained_intron, protein_coding, processed_transcript	uc011caw.1	nonsynonymous SNV	exon9	c.C1174T	p.P392S	HKAYPPTSRGNYPNYAGNPANLRRK	HKAYPPTSRGNYSNYAGNPANLRRK	1.0	6.0	-	-	3703_4:71508317-71508317 C>T_HKAYPPTSRGNYSNYAGNPANLRRK
X:64140043-64140043 C>T	0.0	3703	MELANOMA	-	-	-	-	ZC4H2	uc022byc.1,p.E83K|NM_001178033,p.E106K|NM_018684,p.E106K|NM_001178032,p.E83K|uc011mov.2,p.E83K|ENST00000374839,p.E106K|uc004dvv.3,p.E83K|uc011mow.2,p.E106K|uc022byd.1,p.E83K|ENST00000447788,p.E106K|uc004dvu.3,p.E106K|ENST00000545618,p.E101K|uc004dvw.2,p.E106K|NM_001243804,p.E83K|ENST00000337990,p.E83K	protein_coding, processed_transcript	uc022byd.1	nonsynonymous SNV	exon3	c.G247A	p.E83K	TRRLHDEYKPLKEHVDALRMTLGLQ	TRRLHDEYKPLKKHVDALRMTLGLQ	1.0	3.0	-	-	3703_X:64140043-64140043 C>T_TRRLHDEYKPLKKHVDALRMTLGLQ
10:87373171-87373171 G>A	0.0	3703	MELANOMA	-	-	-	-	GRID1	ENST00000536331,p.P436L|uc001kdl.1,p.P865L|ENST00000327946,p.P865L|NM_017551,p.P865L|uc010qmf.1,p.P436L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qmf.1	nonsynonymous SNV	exon8	c.C1307T	p.P436L	LWWNSNRCHQETPKEDKEVNLEQVH	LWWNSNRCHQETLKEDKEVNLEQVH	3.0	9.0	-	-	3703_10:87373171-87373171 G>A_LWWNSNRCHQETLKEDKEVNLEQVH
11:51412124-51412124 G>A	0.0	3703	MELANOMA	-	-	-	-	OR4A5	uc001nhi.2,p.S91F|NM_001005272,p.S91F|ENST00000319760,p.S91F	protein_coding	uc001nhi.2	nonsynonymous SNV	exon1	c.C272T	p.S91F	LIVGLFCDKKTISFQGCMGQLFIDH	LIVGLFCDKKTIFFQGCMGQLFIDH	1.0	7.0	-	-	3703_11:51412124-51412124 G>A_LIVGLFCDKKTIFFQGCMGQLFIDH
6:147830509-147830509 C>T	0.0	3703	MELANOMA	-	-	-	-	SAMD5	NM_001030060,p.P149S|ENST00000367474,p.P149S|uc003qmc.2,p.P149S	protein_coding	uc003qmc.2	nonsynonymous SNV	exon1	c.C445T	p.P149S	KLVRDGIHLSKPPYSRKVPMAGILE	KLVRDGIHLSKPSYSRKVPMAGILE	1.0	9.0	-	-	3703_6:147830509-147830509 C>T_KLVRDGIHLSKPSYSRKVPMAGILE
15:101983852-101983852 T>C	0.0	3703	MELANOMA	-	-	-	-	PCSK6	ENST00000348070,p.E103G|ENST00000398181,p.E103G|ENST00000344273,p.E103G|ENST00000358417,p.E103G	retained_intron, protein_coding, processed_transcript	ENST00000398181	nonsynonymous SNV	exon3	c.A308G	p.E103G	HGYLNLGQIGNLEDYYHFYHSKTFK	HGYLNLGQIGNLGDYYHFYHSKTFK	2.0	8.0	-	-	3703_15:101983852-101983852 T>C_HGYLNLGQIGNLGDYYHFYHSKTFK
14:64727386-64727386 C>T	1.0	3703	MELANOMA	-	-	-	-	ESR2	uc001xgu.3,p.A245T|NM_001040275,p.A245T|ENST00000556275,p.A245T|ENST00000555278,p.A245T|ENST00000554572,p.A245T|ENST00000353772,p.A245T|uc001xgx.3,p.A245T|uc001xgy.2,p.A245T|uc001xha.1,p.A245T|uc031qoy.1,p.A245T|uc010aqc.1,p.A245T|NM_001437,p.A245T|NM_001291723,p.A245T|NM_001291712,p.A245T|ENST00000557772,p.A245T|ENST00000358599,p.A245T|ENST00000344288,p.A245T|ENST00000267525,p.A245T|ENST00000542956,p.A245T|uc001xgv.3,p.A245T|uc001xgz.2,p.A245T|NM_001214902,p.A245T|ENST00000553796,p.A245T|ENST00000357782,p.A245T|ENST00000341099,p.A245T|NM_001271876,p.A245T|NM_001271877,p.A245T	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qoy.1	nonsynonymous SNV	exon4	c.G733A	p.A245T	RSADEQLHCAGKAKRSGGHAPRVRE	RSADEQLHCAGKTKRSGGHAPRVRE	4.0	6.0	-	-	3703_14:64727386-64727386 C>T_RSADEQLHCAGKTKRSGGHAPRVRE
17:5486158-5486158 G>A	1.0	3703	MELANOMA	-	-	-	-	NLRP1	ENST00000354411,p.P94S|uc002gck.3,p.P94S|NM_001033053,p.P94S|NM_033004,p.P94S|ENST00000572272,p.P94S|uc002gcj.3,p.P94S|ENST00000345221,p.P94S|NM_033007,p.P94S|NM_033006,p.P94S|ENST00000577119,p.P94S|uc002gch.4,p.P94S|ENST00000571451,p.P94S|ENST00000269280,p.P94S|uc002gcg.1,p.P94S|uc002gci.3,p.P94S|ENST00000262467,p.P94S|NM_014922,p.P94S|uc002gcl.3,p.P94S|ENST00000544378,p.P94S|uc010clh.3,p.P94S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010clh.3	nonsynonymous SNV	exon3	c.C280T	p.P94S	LCAQAQEGAGHSPSFPYSPSEPHLG	LCAQAQEGAGHSSSFPYSPSEPHLG	7.0	3.0	-	-	3703_17:5486158-5486158 G>A_LCAQAQEGAGHSSSFPYSPSEPHLG
21:41684158-41684158 G>A	0.0	3703	MELANOMA	-	-	-	-	DSCAM	ENST00000400454,p.P638S|NM_001271534,p.P638S|NM_001389,p.P638S|ENST00000404019,p.P390S|uc002yyq.1,p.P638S|uc031rvr.1,p.P638S	protein_coding	uc031rvr.1	nonsynonymous SNV	exon9	c.C1912T	p.P638S	ITITWQKDGRPIPGSLGVTIDNIDF	ITITWQKDGRPISGSLGVTIDNIDF	1.0	3.0	-	-	3703_21:41684158-41684158 G>A_ITITWQKDGRPISGSLGVTIDNIDF
14:38724746-38724746 C>T	0.0	3703	MELANOMA	-	-	-	-	CLEC14A	uc001wum.2,p.R161Q|ENST00000342213,p.R161Q|NM_175060,p.R161Q	protein_coding	uc001wum.2	nonsynonymous SNV	exon1	c.G482A	p.R161Q	TGGVEPAGWKEMRCHLRANGYLCKY	TGGVEPAGWKEMQCHLRANGYLCKY	5.0	5.0	-	-	3703_14:38724746-38724746 C>T_TGGVEPAGWKEMQCHLRANGYLCKY
4:156775294-156775294 C>T	0.0	3703	MELANOMA	-	-	-	-	ASIC5	NM_017419,p.G174S|ENST00000537611,p.G174S|uc003ipe.1,p.G174S	protein_coding	uc003ipe.1	nonsynonymous SNV	exon3	c.G520A	p.G174S	QNFSIVEFIRNKGFYLNNSTLLDCE	QNFSIVEFIRNKSFYLNNSTLLDCE	1.0	6.0	-	-	3703_4:156775294-156775294 C>T_QNFSIVEFIRNKSFYLNNSTLLDCE
7:126173922-126173922 G>A	0.0	3703	MELANOMA	-	-	-	-	GRM8	uc003vlt.2,p.A505V|NM_001127323,p.A505V|NM_000845,p.A505V|uc003vlr.2,p.A505V|ENST00000472701,p.A505V|ENST00000339582,p.A505V|ENST00000444921,p.A505V|ENST00000358373,p.A505V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vlt.2	nonsynonymous SNV	exon9	c.C1514T	p.A505V	NQLHLKVEDMQWAHREHTHPASVCS	NQLHLKVEDMQWVHREHTHPASVCS	3.0	5.0	-	-	3703_7:126173922-126173922 G>A_NQLHLKVEDMQWVHREHTHPASVCS
19:47234012-47234012 ->CA	1.0	3703	MELANOMA	-	-	-	-	STRN4	NM_013403,p.Q286fs|uc002pfm.3,p.Q286fs|ENST00000539396,p.Q167fs|uc002pfl.3,p.Q286fs|ENST00000391910,p.Q286fs|NM_001039877,p.Q286fs|ENST00000263280,p.Q286fs|ENST00000435164,p.Q167fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002pfm.3	frameshift insertion	exon6	c.855_856insTG	p.Q286fs	EDSDEDDELDSVQHKKQRVKLPSKA	EDSDEDDELDSVCSTRSSV	8.0	4.0	-	-	3703_19:47234012-47234012 ->CA_EDSDEDDELDSVCSTRSSV
19:51729603-51729603 G>A	0.0	3703	MELANOMA	-	-	-	-	CD33	uc002pwa.2,p.D246N|NM_001177608,p.D246N|ENST00000421133,p.D119N|uc010eos.1,p.D246N|NM_001772,p.D246N|uc010eot.1,p.D119N|NM_001082618,p.D119N|ENST00000391796,p.D246N|ENST00000436584,p.D119N|ENST00000262262,p.D246N	retained_intron, protein_coding, processed_transcript	uc010eot.1	nonsynonymous SNV	exon3	c.G355A	p.D119N	VPQNPTTGIFPGDGSGKQETRAGVV	VPQNPTTGIFPGNGSGKQETRAGVV	5.0	4.0	-	-	3703_19:51729603-51729603 G>A_VPQNPTTGIFPGNGSGKQETRAGVV
19:17100518-17100518 G>A	0.0	3703	MELANOMA	-	-	-	-	CPAMD8	ENST00000443236,p.L491F|uc002nfb.3,p.L491F|NM_015692,p.L491F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nfb.3	nonsynonymous SNV	exon13	c.C1471T	p.L491F	PVGAQYLPSYLSLGSWYSPSQCYLQ	PVGAQYLPSYLSFGSWYSPSQCYLQ	1.0	5.0	-	-	3703_19:17100518-17100518 G>A_PVGAQYLPSYLSFGSWYSPSQCYLQ
1:248616810-248616810 G>A	0.0	3703	MELANOMA	-	-	-	-	OR2T2	uc001iek.1,p.A238T|NM_001004136,p.A238T|ENST00000342927,p.A238T	protein_coding	uc001iek.1	nonsynonymous SNV	exon1	c.G712A	p.A238T	VHRMNSAEGRRKAFATCSSHIMVVS	VHRMNSAEGRRKTFATCSSHIMVVS	1.0	4.0	-	-	3703_1:248616810-248616810 G>A_VHRMNSAEGRRKTFATCSSHIMVVS
16:3065551-3065551 G>C	0.0	3703	MELANOMA	-	-	-	-	CLDN6	ENST00000328796,p.R158G|NM_021195,p.R158G|ENST00000396925,p.R158G|uc021tbb.1,p.R158G|uc002csu.4,p.R158G	protein_coding, nonsense_mediated_decay	uc021tbb.1	nonsynonymous SNV	exon1	c.C472G	p.R158G	DFYNPLVAEAQKRELGASLYLGWAA	DFYNPLVAEAQKGELGASLYLGWAA	1.0	8.0	-	-	3703_16:3065551-3065551 G>C_DFYNPLVAEAQKGELGASLYLGWAA
10:96805651-96805651 C>T	0.0	3703	MELANOMA	-	-	-	2	CYP2C8	uc010qoa.2,p.D223N|ENST00000535898,p.D191N|uc021pwl.1,p.D223N|NM_001198855,p.D223N|ENST00000539050,p.D207N|ENST00000371270,p.D293N|NM_001198854,p.D191N|uc010qod.1,p.D207N|NM_000770,p.D293N|ENST00000527420,p.D293N|NM_001198853,p.D223N|uc010qob.2,p.D207N|uc001kkb.3,p.D293N|uc010qoc.2,p.D191N	retained_intron, protein_coding, nonsense_mediated_decay	uc021pwl.1	nonsynonymous SNV	exon7	c.G667A	p.D223N	EFNIENLVGTVADLFVAGTETTSTT	EFNIENLVGTVANLFVAGTETTSTT	1.0	4.0	-	-	3703_10:96805651-96805651 C>T_EFNIENLVGTVANLFVAGTETTSTT
12:72090353-72090353 G>A	0.0	3703	MELANOMA	-	-	-	-	TMEM19	NM_018279,p.G128S|ENST00000549735,p.G128S|ENST00000266673,p.G128S|uc001swr.2,p.G128S|ENST00000550524,p.G128S|ENST00000546677,p.G27S|uc001sws.3,p.G128S	protein_coding, nonsense_mediated_decay	uc001sws.3	nonsynonymous SNV	exon3	c.G382A	p.G128S	EVKKRLDSEYKEGGQRNWVQVFCNG	EVKKRLDSEYKESGQRNWVQVFCNG	6.0	2.0	unscreened	-	3703_12:72090353-72090353 G>A_EVKKRLDSEYKESGQRNWVQVFCNG
X:54324689-54324689 T>A	0.0	3703	MELANOMA	-	-	-	-	WNK3	NM_020922,p.K439N|ENST00000354646,p.K439N|NM_001002838,p.K439N|uc004dtc.2,p.K439N|ENST00000375169,p.K439N|ENST00000375159,p.K439N|uc004dtd.2,p.K439N	protein_coding	uc004dtd.2	nonsynonymous SNV	exon7	c.A1317T	p.K439N	ALRLWVEDPKKLKGKHKDNEAIEFS	ALRLWVEDPKKLNGKHKDNEAIEFS	1.0	2.0	unscreened	-	3703_X:54324689-54324689 T>A_ALRLWVEDPKKLNGKHKDNEAIEFS
6:25773753-25773753 G>A	0.0	3703	MELANOMA	-	-	-	-	SLC17A4	ENST00000397076,p.G50S|uc003nff.1,p.G41S	protein_coding	uc003nff.1	nonsynonymous SNV	exon4	c.G121A	p.G41S	TLKEFKAMDCSPGWSLPIRAMIKSL	TLKEFKAMDCSPSWSLPIRAMIKSL	1.0	5.0	-	-	3703_6:25773753-25773753 G>A_TLKEFKAMDCSPSWSLPIRAMIKSL
6:25773753-25773753 G>A	0.0	3703	MELANOMA	-	-	-	-	SLC17A4	ENST00000377905,p.G280S|NM_001286121,p.G226S|uc003nfg.3,p.G217S|uc003nfe.3,p.G280S|NM_005495,p.G280S	protein_coding	uc003nfg.3	nonsynonymous SNV	exon8	c.G649A	p.G217S	IVCSLAQQDCSPGWSLPIRAMIKSL	IVCSLAQQDCSPSWSLPIRAMIKSL	1.0	5.0	-	-	3703_6:25773753-25773753 G>A_IVCSLAQQDCSPSWSLPIRAMIKSL
X:64139977-64139977 C>T	0.0	3703	MELANOMA	-	-	-	-	ZC4H2	ENST00000447788,p.E128K|uc011mow.2,p.E128K|NM_001178033,p.E128K	protein_coding, processed_transcript	uc011mow.2	nonsynonymous SNV	exon3	c.G382A	p.E128K	GLQRLPDLCEEEEKLSLEPACHVTS	GLQRLPDLCEEEKKLSLEPACHVTS	1.0	2.0	-	-	3703_X:64139977-64139977 C>T_GLQRLPDLCEEEKKLSLEPACHVTS
2:179318186-179318186 G>A	1.0	3703	MELANOMA	-	-	-	-	DFNB59	ENST00000409117,p.G17E|uc002umj.4,p.G17E|uc002umi.4,p.G17E|NM_001042702,p.G17E|ENST00000375129,p.G17E	retained_intron, protein_coding, nonsense_mediated_decay	uc002umj.4	nonsynonymous SNV	exon1	c.G50A	p.G17E	ATKSFVKQVGDGGRLVPVPSLSEAD	ATKSFVKQVGDGERLVPVPSLSEAD	4.0	4.0	-	-	3703_2:179318186-179318186 G>A_ATKSFVKQVGDGERLVPVPSLSEAD
X:64139977-64139977 C>T	0.0	3703	MELANOMA	-	-	-	-	ZC4H2	uc022byc.1,p.E105K|uc011mov.2,p.E105K|NM_001178032,p.E105K|NM_018684,p.E128K|ENST00000337990,p.E105K|uc004dvv.3,p.E105K|uc022byd.1,p.E105K|NM_001243804,p.E105K|ENST00000374839,p.E128K|ENST00000545618,p.E123K|uc004dvu.3,p.E128K	protein_coding, processed_transcript	uc022byd.1	nonsynonymous SNV	exon3	c.G313A	p.E105K	GLQRLPDLCEEEEKLSLDYFEKQKA	GLQRLPDLCEEEKKLSLDYFEKQKA	1.0	2.0	-	-	3703_X:64139977-64139977 C>T_GLQRLPDLCEEEKKLSLDYFEKQKA
19:54603039-54603039 C>T	0.0	3703	MELANOMA	-	-	-	-	OSCAR	ENST00000391760,p.A24T	protein_coding	ENST00000391760	nonsynonymous SNV	exon2	c.G70A	p.A24T	LWPLCHTDITPSAGRILSGGGDSSP	LWPLCHTDITPSTGRILSGGGDSSP	2.0	7.0	unscreened	-	3703_19:54603039-54603039 C>T_LWPLCHTDITPSTGRILSGGGDSSP
6:31083966-31083966 G>A	0.0	3703	MELANOMA	-	-	-	-	CDSN	uc003nsm.2,p.H476Y|ENST00000376288,p.H476Y|NM_001264,p.H476Y	protein_coding	uc003nsm.2	nonsynonymous SNV	exon2	c.C1426T	p.H476Y	SLTLTGGPDGSPHPDPSAGAKPCGS	SLTLTGGPDGSPYPDPSAGAKPCGS	1.0	2.0	-	-	3703_6:31083966-31083966 G>A_SLTLTGGPDGSPYPDPSAGAKPCGS
17:7329509-7329509 G>A	0.0	3703	MELANOMA	-	-	-	-	C17orf74	NM_175734,p.E67K|uc002ggw.3,p.E67K|ENST00000333870,p.E67K	protein_coding	uc002ggw.3	nonsynonymous SNV	exon3	c.G199A	p.E67K	LDKMIDWATQKNEIQASESPPSGPP	LDKMIDWATQKNKIQASESPPSGPP	1.0	4.0	-	-	3703_17:7329509-7329509 G>A_LDKMIDWATQKNKIQASESPPSGPP
X:132161000-132161000 G>A	0.0	3703	MELANOMA	-	-	ID=COSM1664912;OCCURENCE=1(kidney)	-	USP26	ENST00000406273,p.P417S|ENST00000511190,p.P417S|ENST00000370832,p.P417S|NM_031907,p.P417S|uc011mvf.2,p.P417S|uc010nrm.1,p.P417S	protein_coding, processed_transcript	uc011mvf.2	nonsynonymous SNV	exon1	c.C1249T	p.P417S	WKPKSEFGEDNFPKQVFADDPDTSG	WKPKSEFGEDNFSKQVFADDPDTSG	1.0	5.0	-	-	3703_X:132161000-132161000 G>A_WKPKSEFGEDNFSKQVFADDPDTSG
6:70942291-70942291 G>A	0.0	3703	MELANOMA	-	-	-	-	COL9A1	NM_001851,p.P833L|ENST00000370499,p.P590L|uc003pff.4,p.P590L|ENST00000320755,p.P590L|uc003pfg.4,p.P833L|ENST00000357250,p.P833L|NM_078485,p.P590L|uc003pfe.4,p.P382L	retained_intron, protein_coding, processed_transcript	uc003pfg.4	nonsynonymous SNV	exon36	c.C2498T	p.P833L	IKGPPGALGLRGPKGDLGEKGERGP	IKGPPGALGLRGLKGDLGEKGERGP	1.0	8.0	-	-	3703_6:70942291-70942291 G>A_IKGPPGALGLRGLKGDLGEKGERGP
18:48255650-48255650 C>G	0.0	3703	MELANOMA	-	-	-	-	MAPK4	uc010xdm.2,p.P186R|ENST00000400384,p.P397R|NM_002747,p.P397R|ENST00000540640,p.P186R|uc002lev.3,p.P397R|NM_001292039,p.P186R	protein_coding, processed_transcript	uc010xdm.2	nonsynonymous SNV	exon5	c.C557G	p.P186R	GSAPLAEDVQVDPRKDSHSSSERFL	GSAPLAEDVQVDRRKDSHSSSERFL	1.0	3.0	-	-	3703_18:48255650-48255650 C>G_GSAPLAEDVQVDRRKDSHSSSERFL
1:11561797-11561797 C>T	0.0	3703	MELANOMA	-	-	-	-	PTCHD2	uc001asi.1,p.R250C|uc001ash.4,p.R250C|ENST00000389575,p.R250C|NM_020780,p.R250C|ENST00000294484,p.R250C	protein_coding, processed_transcript	uc001asi.1	nonsynonymous SNV	exon1	c.C748T	p.R250C	PHAAVAANQSRARRGASRWDYSRAY	PHAAVAANQSRACRGASRWDYSRAY	1.0	6.0	-	-	3703_1:11561797-11561797 C>T_PHAAVAANQSRACRGASRWDYSRAY
7:82785023-82785023 C>T	0.0	3703	MELANOMA	-	-	-	-	PCLO	uc003uhv.2,p.G312R|ENST00000423517,p.G312R|NM_033026,p.G312R|ENST00000333891,p.G312R|uc003uhx.2,p.G312R|NM_014510,p.G312R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon2	c.G934A	p.G312R	SPSKPPIQQPTPGKPPAQQPGHEKS	SPSKPPIQQPTPRKPPAQQPGHEKS	1.0	8.0	-	-	3703_7:82785023-82785023 C>T_SPSKPPIQQPTPRKPPAQQPGHEKS
2:27804562-27804562 G>A	0.0	3703	MELANOMA	-	-	-	-	C2orf16	NM_032266,p.R1708K|uc002rkz.4,p.R1708K|ENST00000408964,p.R1708K	protein_coding	uc002rkz.4	nonsynonymous SNV	exon1	c.G5123A	p.R1708K	SPSQRSHRGPSERRHHSPSKRSHRS	SPSQRSHRGPSEKRHHSPSKRSHRS	1.0	5.0	-	-	3703_2:27804562-27804562 G>A_SPSQRSHRGPSEKRHHSPSKRSHRS
18:76753670-76753670 C>T	0.0	3703	MELANOMA	-	-	-	-	SALL3	uc010dra.3,p.S167F|NM_171999,p.S560F|uc002lmt.3,p.S560F|ENST00000575389,p.S560F|ENST00000536229,p.S427F|ENST00000537592,p.S560F	protein_coding, processed_transcript	uc010dra.3	nonsynonymous SNV	exon1	c.C500T	p.S167F	PASRSPQRPSPASSECASLSPGLNH	PASRSPQRPSPAFSECASLSPGLNH	1.0	3.0	-	-	3703_18:76753670-76753670 C>T_PASRSPQRPSPAFSECASLSPGLNH
5:140801294-140801294 C>T	0.0	3703	MELANOMA	-	-	-	-	PCDHGA11	uc003lko.1,p.S167F|NM_032092,p.S167F|ENST00000518882,p.S167F|NM_032091,p.S167F|uc003lkp.2,p.S167F|uc003lkq.2,p.S167F|NM_018914,p.S167F|ENST00000398587,p.S167F	protein_coding	uc003lkq.2	nonsynonymous SNV	exon1	c.C500T	p.S167F	LPNARDPDVGVNSLQSYQLSPNNYF	LPNARDPDVGVNFLQSYQLSPNNYF	2.0	5.0	-	-	3703_5:140801294-140801294 C>T_LPNARDPDVGVNFLQSYQLSPNNYF
19:18898354-18898354 C>T	0.0	3703	MELANOMA	-	-	-	-	COMP	ENST00000542601,p.D328N|NM_000095,p.D361N|uc010xqj.2,p.D308N|uc002nke.3,p.D361N|ENST00000222271,p.D361N|ENST00000425807,p.D308N|uc002nkd.3,p.D328N	retained_intron, protein_coding	uc010xqj.2	nonsynonymous SNV	exon9	c.G922A	p.D308N	DNCRSQKNDDQKDTDQDGRGDACDD	DNCRSQKNDDQKNTDQDGRGDACDD	6.0	2.0	-	-	3703_19:18898354-18898354 C>T_DNCRSQKNDDQKNTDQDGRGDACDD
13:84454754-84454754 C>T	0.0	3703	MELANOMA	-	-	-	-	SLITRK1	NM_052910,p.D297N|uc001vlk.3,p.D297N|ENST00000377084,p.D297N|NM_001281503,p.D297N	protein_coding	uc001vlk.3	nonsynonymous SNV	exon1	c.G889A	p.D297N	PLPTPFKTNGQEDHATPGSAPNGGT	PLPTPFKTNGQENHATPGSAPNGGT	1.0	8.0	-	-	3703_13:84454754-84454754 C>T_PLPTPFKTNGQENHATPGSAPNGGT
8:70541837-70541837 G>A	0.0	3703	MELANOMA	-	-	ID=COSM750823;OCCURENCE=1(lung)	-	SULF1	uc003xyf.2,p.G736E|uc003xyg.2,p.G736E|uc003xyd.2,p.G736E|NM_001128205,p.G736E|NM_015170,p.G736E|uc010lza.1,p.G736E|ENST00000402687,p.G736E|uc003xye.2,p.G736E|ENST00000260128,p.G736E|ENST00000458141,p.G736E|NM_001128204,p.G736E|NM_001128206,p.G736E|ENST00000419716,p.G736E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lza.1	nonsynonymous SNV	exon19	c.G2207A	p.G736E	KKERKEKRRQRKGEECSLPGLTCFT	KKERKEKRRQRKEEECSLPGLTCFT	10.0	5.0	-	-	3703_8:70541837-70541837 G>A_KKERKEKRRQRKEEECSLPGLTCFT
17:10204920-10204920 T>C	0.0	3703	MELANOMA	-	-	-	-	MYH13	ENST00000252172,p.K1923R|uc002gmk.1,p.K1923R|ENST00000570743,p.K1923R|NM_003802,p.K1923R|ENST00000418404,p.K1923R	protein_coding	uc002gmk.1	nonsynonymous SNV	exon40	c.A5768G	p.K1923R	AERADIAESQVNKLRAKSRDVGSQK	AERADIAESQVNRLRAKSRDVGSQK	1.0	7.0	-	-	3703_17:10204920-10204920 T>C_AERADIAESQVNRLRAKSRDVGSQK
12:53207706-53207706 C>T	0.0	3703	MELANOMA	-	-	-	-	KRT4	ENST00000551956,p.G46E|ENST00000552668,p.G46E|uc031qhk.1,p.G46E|NM_002272,p.G46E|ENST00000293774,p.G120E|ENST00000548097,p.G46E	retained_intron, protein_coding, nonsense_mediated_decay	uc031qhk.1	nonsynonymous SNV	exon1	c.G137A	p.G46E	SMSGGAGRCSSGGFGSRSLYNLRGN	SMSGGAGRCSSGEFGSRSLYNLRGN	1.0	4.0	-	-	3703_12:53207706-53207706 C>T_SMSGGAGRCSSGEFGSRSLYNLRGN
X:37028201-37028201 A>G	0.0	3703	MELANOMA	-	-	-	2	FAM47C	NM_001013736,p.E573G|uc004ddl.2,p.E573G|ENST00000358047,p.E573G	protein_coding	uc004ddl.2	nonsynonymous SNV	exon1	c.A1718G	p.E573G	EPPKTRMYSLRPEPPDTGVSHLCPE	EPPKTRMYSLRPGPPDTGVSHLCPE	1.0	6.0	-	-	3703_X:37028201-37028201 A>G_EPPKTRMYSLRPGPPDTGVSHLCPE
20:57829289-57829289 C>T	0.0	3703	MELANOMA	-	-	-	-	ZNF831	uc002yan.3,p.H1509Y|NM_178457,p.H1509Y|ENST00000371030,p.H1509Y	protein_coding	uc002yan.3	nonsynonymous SNV	exon5	c.C4525T	p.H1509Y	LPVRTDHIAQEIHSAESRDHSQTAG	LPVRTDHIAQEIYSAESRDHSQTAG	2.0	5.0	-	-	3703_20:57829289-57829289 C>T_LPVRTDHIAQEIYSAESRDHSQTAG
11:10647811-10647811 G>A	0.0	3703	MELANOMA	-	-	-	-	MRVI1	NM_001100163,p.P266L|ENST00000421747,p.P348L|ENST00000436272,p.P330L|NM_001100167,p.P42L|ENST00000423302,p.P357L|ENST00000534266,p.P42L|ENST00000545852,p.P42L|NM_001098579,p.P349L|NM_130385,p.P357L|ENST00000558540,p.P42L|ENST00000552103,p.P266L|ENST00000547195,p.P266L|uc010rcc.1,p.P357L|ENST00000531107,p.P349L|uc010rcb.1,p.P349L|uc001mix.3,p.P42L|NM_001206881,p.P42L|ENST00000424001,p.P42L|uc001miz.2,p.P266L|uc009ygd.1,p.P42L|ENST00000527509,p.P266L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rcc.1	nonsynonymous SNV	exon9	c.C1070T	p.P357L	PRSPTQDAAGVGPPASQGRGPAGEP	PRSPTQDAAGVGLPASQGRGPAGEP	4.0	4.0	-	-	3703_11:10647811-10647811 G>A_PRSPTQDAAGVGLPASQGRGPAGEP
12:56230896-56230896 C>T	0.0	3703	MELANOMA	-	-	-	-	MMP19	NM_002429,p.G484E|ENST00000322569,p.G484E|ENST00000394182,p.G198E|uc001sib.4,p.G484E|ENST00000548629,p.G461E|uc001sia.3,p.G198E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sib.4	nonsynonymous SNV	exon9	c.G1451A	p.G484E	CRPRTIDTTPSGGNTTPSGTGITLD	CRPRTIDTTPSGENTTPSGTGITLD	4.0	7.0	-	-	3703_12:56230896-56230896 C>T_CRPRTIDTTPSGENTTPSGTGITLD
13:66878990-66878990 C>T	1.0	3703	MELANOMA	-	-	-	-	PCDH9	uc010thl.2,p.D1129N|ENST00000377865,p.D1171N|uc001vik.3,p.D1171N|NM_020403,p.D1137N|ENST00000544246,p.D1171N|NM_203487,p.D1171N|ENST00000456367,p.D1137N|uc001vil.3,p.D1137N|ENST00000328454,p.D1137N	protein_coding	uc010thl.2	nonsynonymous SNV	exon5	c.G3385A	p.D1129N	STFAPQKEWVKKDKLVNGHTLTRAW	STFAPQKEWVKKNKLVNGHTLTRAW	3.0	5.0	-	-	3703_13:66878990-66878990 C>T_STFAPQKEWVKKNKLVNGHTLTRAW
9:12694240-12694240 G>A	0.0	3703	MELANOMA	-	-	-	-	TYRP1	ENST00000473763,p.D82N|NM_000550,p.D82N|uc003zkv.4,p.D82N|ENST00000388918,p.D82N	retained_intron, protein_coding, processed_transcript	uc003zkv.4	nonsynonymous SNV	exon2	c.G244A	p.D82N	ADSRPHSPQYPHDGRDDREVWPLRF	ADSRPHSPQYPHNGRDDREVWPLRF	1.0	5.0	-	-	3703_9:12694240-12694240 G>A_ADSRPHSPQYPHNGRDDREVWPLRF
12:5154211-5154211 G>A	0.0	3703	MELANOMA	-	-	ID=COSM25422;OCCURENCE=2(breast)	-	KCNA5	ENST00000252321,p.G300S|NM_002234,p.G300S|uc001qni.4,p.G300S	protein_coding	uc001qni.4	nonsynonymous SNV	exon1	c.G898A	p.G300S	PHQPPAPAPGANGSGVMAPPSGPTV	PHQPPAPAPGANSSGVMAPPSGPTV	2.0	4.0	-	-	3703_12:5154211-5154211 G>A_PHQPPAPAPGANSSGVMAPPSGPTV
14:75018965-75018965 C>T	0.0	3703	MELANOMA	-	-	-	-	LTBP2	NM_000428,p.G442R|ENST00000553939,p.G442R|ENST00000261978,p.G442R|uc001xqa.3,p.G442R|ENST00000556690,p.G442R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xqa.3	nonsynonymous SNV	exon6	c.G1324A	p.G442R	PIPQPDREPPGRGSRPRALLEAPLK	PIPQPDREPPGRRSRPRALLEAPLK	6.0	6.0	-	-	3703_14:75018965-75018965 C>T_PIPQPDREPPGRRSRPRALLEAPLK
7:82763649-82763649 G>A	0.0	3703	MELANOMA	-	-	-	-	PCLO	uc003uhv.2,p.P1073S|ENST00000423517,p.P1073S|ENST00000333891,p.P1073S|NM_014510,p.P1073S|uc003uhx.2,p.P1073S|NM_033026,p.P1073S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon3	c.C3217T	p.P1073S	LCKTELNIGSKDPPNFNTCTECKNQ	LCKTELNIGSKDSPNFNTCTECKNQ	1.0	7.0	-	-	3703_7:82763649-82763649 G>A_LCKTELNIGSKDSPNFNTCTECKNQ
19:41711993-41711993 C>T	0.0	3703	MELANOMA	-	-	-	-	CYP2S1	ENST00000593890,p.P71S	protein_coding, nonsense_mediated_decay	ENST00000593890	nonsynonymous SNV	exon2	c.C211T	p.P71S	QMDGSGSMRRSCPSP	QMDGSGSMRRSCSSP	4.0	6.0	unscreened	-	3703_19:41711993-41711993 C>T_QMDGSGSMRRSCSSP
12:49230392-49230392 G>A	1.0	3881	MELANOMA	-	-	-	-	DDX23	uc001rsm.3,p.P399L|ENST00000308025,p.P399L|NM_004818,p.P399L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rsm.3	nonsynonymous SNV	exon10	c.C1196T	p.P399L	PNPIRSWKDSSLPPHILEVIDKCGY	PNPIRSWKDSSLLPHILEVIDKCGY	10.0	8.0	unscreened	-	3881_12:49230392-49230392 G>A_PNPIRSWKDSSLLPHILEVIDKCGY
5:31421449-31421449 G>A	1.0	3881	MELANOMA	-	-	-	1	DROSHA	ENST00000511367,p.S1152F|NM_013235,p.S1152F|ENST00000513349,p.S1115F|ENST00000344624,p.S1152F|uc003jhg.2,p.S1152F|ENST00000442743,p.S1115F|uc003jhi.2,p.S1115F|uc003jhh.2,p.S1115F|NM_001100412,p.S1115F	retained_intron, protein_coding, processed_transcript	uc003jhi.2	nonsynonymous SNV	exon28	c.C3344T	p.S1115F	LGHNQRMEFLGDSIMQLVATEYLFI	LGHNQRMEFLGDFIMQLVATEYLFI	10.0	4.0	unscreened	-	3881_5:31421449-31421449 G>A_LGHNQRMEFLGDFIMQLVATEYLFI
17:43553081-43553081 G>A	1.0	3881	MELANOMA	-	-	-	-	PLEKHM1	ENST00000421073,p.S14L|uc010wjn.1,p.S52L|uc010wjm.2,p.S75L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wjn.1	nonsynonymous SNV	exon3	c.C155T	p.S52L	DWTPRLPSRHIISELEHLTFVNTDV	DWTPRLPSRHIILELEHLTFVNTDV	9.0	3.0	unscreened	-	3881_17:43553081-43553081 G>A_DWTPRLPSRHIILELEHLTFVNTDV
1:161172236-161172236 G>A	1.0	3881	MELANOMA	-	-	-	-	NDUFS2	ENST00000392179,p.G21R|NM_001166159,p.G21R|ENST00000367993,p.G21R|NM_004550,p.G21R|uc001fyv.3,p.G21R|uc001fyw.3,p.G21R	protein_coding, processed_transcript	uc001fyw.3	nonsynonymous SNV	exon1	c.G61A	p.G21R	GFRGVAAQVLRPGAGVRLPIQPSRG	GFRGVAAQVLRPRAGVRLPIQPSRG	9.0	10.0	CD8	-	3881_1:161172236-161172236 G>A_GFRGVAAQVLRPRAGVRLPIQPSRG
11:993842-993842 T>C	1.0	3881	MELANOMA	-	-	-	-	AP2A2	uc001lst.2,p.F548L|ENST00000332231,p.F548L|NM_001242837,p.F548L|uc001lss.3,p.F547L|ENST00000448903,p.F547L|NM_012305,p.F547L|ENST00000528815,p.F548L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lst.2	nonsynonymous SNV	exon13	c.T1642C	p.F548L	PTRALLLSTYIKFVNLFPEVKPTIQ	PTRALLLSTYIKLVNLFPEVKPTIQ	10.0	4.0	unscreened	-	3881_11:993842-993842 T>C_PTRALLLSTYIKLVNLFPEVKPTIQ
7:70255924-70255924 C>T	1.0	3881	MELANOMA	-	-	-	-	AUTS2	ENST00000406775,p.S1217F|NM_001127231,p.S1217F|NM_015570,p.S1241F|uc003tvx.4,p.S1217F|uc011keg.2,p.S693F|uc003tvw.4,p.S1241F|ENST00000342771,p.S1241F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011keg.2	nonsynonymous SNV	exon11	c.C2078T	p.S693F	GRPVSPRRTTPLSAEIRERPPSHTL	GRPVSPRRTTPLFAEIRERPPSHTL	7.0	8.0	unscreened	-	3881_7:70255924-70255924 C>T_GRPVSPRRTTPLFAEIRERPPSHTL
6:31728579-31728579 C>T	1.0	3881	MELANOMA	-	-	-	-	MSH5	uc003nwv.2,p.S642F|uc003nww.2,p.S642F|ENST00000431848,p.S341F|ENST00000375755,p.S642F|ENST00000375750,p.S642F|uc003nwx.2,p.S659F|uc003nwu.2,p.S642F|ENST00000534153,p.S659F|ENST00000395853,p.S316F|ENST00000375742,p.S659F|NM_172165,p.S642F|NM_002441,p.S642F|NM_025259,p.S659F|NM_172166,p.S642F|ENST00000493662,p.S659F|uc011dof.1,p.S341F|uc003nwy.1,p.S316F|ENST00000375703,p.S642F|ENST00000375740,p.S659F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dof.1	nonsynonymous SNV	exon12	c.C1022T	p.S341F	AIFTRIHSCESISLGLSTFMIDLNQ	AIFTRIHSCESIFLGLSTFMIDLNQ	10.0	6.0	unscreened	-	3881_6:31728579-31728579 C>T_AIFTRIHSCESIFLGLSTFMIDLNQ
17:43553081-43553081 G>A	1.0	3881	MELANOMA	-	-	-	-	PLEKHM1	uc002ija.3,p.S103L|ENST00000430334,p.S103L|NM_014798,p.S103L|ENST00000581448,p.S103L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ija.3	nonsynonymous SNV	exon4	c.C308T	p.S103L	PLLKAVTHKHIISELEHLTFVNTDV	PLLKAVTHKHIILELEHLTFVNTDV	9.0	3.0	unscreened	-	3881_17:43553081-43553081 G>A_PLLKAVTHKHIILELEHLTFVNTDV
6:53371815-53371815 G>A	1.0	3881	MELANOMA	-	-	-	-	GCLC	NM_001498,p.H365Y|uc003pbv.1,p.H89Y|ENST00000229416,p.H365Y|NM_001197115,p.H327Y|uc003pbw.2,p.H365Y|uc021zau.1,p.H327Y	retained_intron, protein_coding, nonsense_mediated_decay	uc021zau.1	nonsynonymous SNV	exon9	c.C979T	p.H327Y	EIYEQLLQEGIDHLLAQHVAHLFIR	EIYEQLLQEGIDYLLAQHVAHLFIR	8.0	1.0	unscreened	-	3881_6:53371815-53371815 G>A_EIYEQLLQEGIDYLLAQHVAHLFIR
5:118532071-118532071 C>T	1.0	3881	MELANOMA	-	-	-	-	DMXL1	NM_005509,p.S2488F|uc010jcl.1,p.S2488F|NM_001290322,p.S2315F|uc021ycw.1,p.S2315F|ENST00000539542,p.S2488F|ENST00000311085,p.S2488F|NM_001290321,p.S2488F|uc003ksd.2,p.S2488F	retained_intron, protein_coding, processed_transcript	uc021ycw.1	nonsynonymous SNV	exon31	c.C6944T	p.S2315F	LQEHSNSNSYSWSLMRLAMVQLVLN	LQEHSNSNSYSWFLMRLAMVQLVLN	9.0	4.0	unscreened	-	3881_5:118532071-118532071 C>T_LQEHSNSNSYSWFLMRLAMVQLVLN
1:236347166-236347166 T>G	1.0	3881	MELANOMA	-	-	-	-	GPR137B	ENST00000366592,p.V309G|uc001hxq.3,p.V309G|NM_003272,p.V309G|ENST00000419162,p.V91G	protein_coding, processed_transcript	uc001hxq.3	nonsynonymous SNV	exon5	c.T926G	p.V309G	VLFVWELLPTTLVVYFFRVRNPTKD	VLFVWELLPTTLGVYFFRVRNPTKD	9.0	10.0	-	-	3881_1:236347166-236347166 T>G_VLFVWELLPTTLGVYFFRVRNPTKD
14:50616930-50616930 C>A	1.0	3881	MELANOMA	-	-	-	-	SOS2	uc001wxs.4,p.W727L|uc010tql.2,p.W694L|NM_006939,p.W727L|ENST00000543680,p.W694L|ENST00000216373,p.W727L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tql.2	nonsynonymous SNV	exon13	c.G2081T	p.W694L	FISSVRGKAMKKWVESIAKIIRRKK	FISSVRGKAMKKLVESIAKIIRRKK	9.0	8.0	unscreened	-	3881_14:50616930-50616930 C>A_FISSVRGKAMKKLVESIAKIIRRKK
3:36899019-36899019 G>A	1.0	3881	MELANOMA	-	-	-	-	TRANK1	uc003cgj.3,p.L688F|ENST00000301807,p.L138F|NM_014831,p.L688F|ENST00000428977,p.L138F|ENST00000429976,p.L688F	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon12	c.C2062T	p.L688F	PGALRPCSLRDCLMQDITVLIQQVE	PGALRPCSLRDCFMQDITVLIQQVE	7.0	9.0	-	-	3881_3:36899019-36899019 G>A_PGALRPCSLRDCFMQDITVLIQQVE
17:43553081-43553081 G>A	1.0	3881	MELANOMA	-	-	-	-	PLEKHM1	ENST00000589780,p.S36L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000589780	nonsynonymous SNV	exon4	c.C107T	p.S36L	GSVKALQKQHIISELEHLTFVNTDV	GSVKALQKQHIILELEHLTFVNTDV	9.0	3.0	unscreened	-	3881_17:43553081-43553081 G>A_GSVKALQKQHIILELEHLTFVNTDV
8:125603395-125603395 G>A	1.0	3881	MELANOMA	-	-	ID=COSM1095913;OCCURENCE=1(endometrium)	-	MTSS1	ENST00000378017,p.S97L|NM_001282971,p.S97L|ENST00000325064,p.S97L|uc003yrj.2,p.S97L|NM_014751,p.S97L|NM_001282974,p.S97L|uc003yrk.2,p.S97L|ENST00000518547,p.S97L|uc003yrl.2,p.S97L	retained_intron, protein_coding, processed_transcript	uc003yrl.2	nonsynonymous SNV	exon4	c.C290T	p.S97L	RHRSIEAKLRQFSSALIDCLINPLQ	RHRSIEAKLRQFLSALIDCLINPLQ	9.0	5.0	unscreened	-	3881_8:125603395-125603395 G>A_RHRSIEAKLRQFLSALIDCLINPLQ
11:62406865-62406865 G>A	1.0	3881	MELANOMA	-	-	-	-	GANAB	NM_198334,p.S73F|uc001nub.4,p.S73F|ENST00000356638,p.S73F|uc001nua.4,p.S73F|ENST00000346178,p.S73F|NM_198335,p.S73F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nub.4	nonsynonymous SNV	exon3	c.C218T	p.S73F	RALLDSLQLGPDSLTVHLIHEVTKV	RALLDSLQLGPDFLTVHLIHEVTKV	10.0	2.0	unscreened	-	3881_11:62406865-62406865 G>A_RALLDSLQLGPDFLTVHLIHEVTKV
X:70779216-70779216 C>T	1.0	3881	MELANOMA	-	-	-	-	OGT	ENST00000373701,p.H558Y|uc004ead.3,p.H187Y|ENST00000373719,p.H568Y|NM_181672,p.H568Y|uc004eab.2,p.H558Y|uc004eaa.2,p.H568Y|NM_181673,p.H558Y|uc004eac.3,p.H429Y	retained_intron, protein_coding, processed_transcript	uc004ead.3	nonsynonymous SNV	exon8	c.C559T	p.H187Y	LRVGYVSSDFGNHPTSHLMQSIPGM	LRVGYVSSDFGNYPTSHLMQSIPGM	10.0	7.0	unscreened	-	3881_X:70779216-70779216 C>T_LRVGYVSSDFGNYPTSHLMQSIPGM
3:100015037-100015037 C>T	1.0	3881	MELANOMA	-	-	-	-	TBC1D23	NM_001199198,p.S265F|ENST00000344949,p.S265F|uc003dts.4,p.S265F|uc003dtt.4,p.S265F|ENST00000394144,p.S265F|ENST00000475134,p.S128F|NM_018309,p.S265F	retained_intron, protein_coding, processed_transcript	uc003dtt.4	nonsynonymous SNV	exon8	c.C794T	p.S265F	KEEVIKFLENTPSSLNIEDIEDLFS	KEEVIKFLENTPFSLNIEDIEDLFS	9.0	1.0	unscreened	-	3881_3:100015037-100015037 C>T_KEEVIKFLENTPFSLNIEDIEDLFS
16:624340-624340 C>T	1.0	3881	MELANOMA	-	-	-	-	PIGQ	NM_148920,p.P89L|uc002chn.3,p.P89L|NM_004204,p.P89L|ENST00000422307,p.P89L|uc010uui.2,p.P103L|ENST00000409527,p.P89L|ENST00000409439,p.P89L|uc002chm.3,p.P89L|ENST00000026218,p.P89L|ENST00000470411,p.P89L|ENST00000443147,p.P103L|ENST00000439574,p.P89L|ENST00000321878,p.P89L|uc002cho.3,p.P89L|uc010bqw.3,p.P89L|ENST00000293874,p.P89L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uui.2	nonsynonymous SNV	exon2	c.C308T	p.P103L	LGRFLESLGAVFPHEPWLRLCRERG	LGRFLESLGAVFLHEPWLRLCRERG	7.0	6.0	unscreened	-	3881_16:624340-624340 C>T_LGRFLESLGAVFLHEPWLRLCRERG
5:10262615-10262615 C>T	1.0	3881	MELANOMA	-	-	-	-	CCT5	uc011cms.2,p.S363F|NM_012073,p.S401F|ENST00000280326,p.S401F|ENST00000506600,p.S308F|uc011cmt.2,p.S308F|uc011cmr.2,p.S346F|uc003jeq.3,p.S401F|ENST00000515676,p.S363F|ENST00000515390,p.S346F|ENST00000503026,p.S380F	retained_intron, protein_coding, nonsense_mediated_decay	uc011cmt.2	nonsynonymous SNV	exon8	c.C923T	p.S308F	GGNKMIIEEAKRSLHDALCVIRNLI	GGNKMIIEEAKRFLHDALCVIRNLI	10.0	3.0	unscreened	-	3881_5:10262615-10262615 C>T_GGNKMIIEEAKRFLHDALCVIRNLI
16:30750933-30750933 C>T	1.0	3881	MELANOMA	-	-	-	-	SRCAP	uc002dze.1,p.P3191L|ENST00000344771,p.P3033L|ENST00000395059,p.P3129L|ENST00000380361,p.P3014L|NM_006662,p.P3191L|ENST00000262518,p.P3191L|uc002dzg.1,p.P2986L	retained_intron, protein_coding, nonsense_mediated_decay	uc002dzg.1	nonsynonymous SNV	exon29	c.C8957T	p.P2986L	EEEEGDGTPRRRPGPRRLVGTTNQG	EEEEGDGTPRRRLGPRRLVGTTNQG	9.0	9.0	unscreened	-	3881_16:30750933-30750933 C>T_EEEEGDGTPRRRLGPRRLVGTTNQG
17:78291019-78291019 C>T	1.0	3881	MELANOMA	-	-	-	1	RNF213	uc002jyg.1,p.P679L|ENST00000582970,p.P948L|NM_020954,p.P948L|uc021uen.2,p.P948L|uc002jyf.4,p.P948L|ENST00000456466,p.P948L|NM_001256071,p.P948L|ENST00000319921,p.P948L|ENST00000508628,p.P997L	retained_intron, protein_coding, processed_transcript	uc021uen.2	nonsynonymous SNV	exon16	c.C2843T	p.P948L	IEVWRRLVEIQFPAEHGWKESLLGD	IEVWRRLVEIQFLAEHGWKESLLGD	10.0	7.0	unscreened	-	3881_17:78291019-78291019 C>T_IEVWRRLVEIQFLAEHGWKESLLGD
5:158699081-158699081 C>T	1.0	3881	MELANOMA	-	-	-	-	UBLCP1	NM_145049,p.H167Y|ENST00000296786,p.H167Y|uc003lxq.2,p.H167Y	retained_intron, protein_coding	uc003lxq.2	nonsynonymous SNV	exon6	c.C499T	p.H167Y	AETGVELMRPYLHEFLTSAYEDYDI	AETGVELMRPYLYEFLTSAYEDYDI	9.0	4.0	unscreened	-	3881_5:158699081-158699081 C>T_AETGVELMRPYLYEFLTSAYEDYDI
4:99982388-99982388 C>T	1.0	3881	MELANOMA	-	-	-	-	METAP1	uc003huf.4,p.L361F|ENST00000514051,p.L91F|NM_015143,p.L361F|ENST00000296411,p.L361F|ENST00000544031,p.L311F|ENST00000510133,p.L145F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003huf.4	nonsynonymous SNV	exon11	c.C1081T	p.L361F	RDGKRSAQFEHTLLVTDTGCEILTR	RDGKRSAQFEHTFLVTDTGCEILTR	9.0	10.0	-	-	3881_4:99982388-99982388 C>T_RDGKRSAQFEHTFLVTDTGCEILTR
2:61330994-61330994 A>G	1.0	3881	MELANOMA	-	-	-	-	KIAA1841	uc002say.3,p.K458E|uc002saw.4,p.K458E|uc002sax.4,p.K312E|ENST00000402291,p.K458E|ENST00000295031,p.K458E|NM_001129993,p.K458E|NM_032506,p.K458E|ENST00000356719,p.K458E|ENST00000453873,p.K458E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002say.3	nonsynonymous SNV	exon13	c.A1372G	p.K458E	LRFDPTQLTKGCKVRDHMVTLRDQG	LRFDPTQLTKGCEVRDHMVTLRDQG	7.0	6.0	unscreened	-	3881_2:61330994-61330994 A>G_LRFDPTQLTKGCEVRDHMVTLRDQG
21:16337512-16337512 G>A	1.0	3881	MELANOMA	-	-	-	-	NRIP1	NM_003489,p.S1001L|uc002yjx.2,p.S1001L|uc021whl.1,p.S1001L|ENST00000400199,p.S1001L|uc031ruz.1,p.S1001L|uc031ruy.1,p.S1001L|ENST00000400202,p.S1001L|ENST00000318948,p.S1001L	protein_coding	uc031ruz.1	nonsynonymous SNV	exon3	c.C3002T	p.S1001L	TQPSSCMDNRTFSYPGVVKTPVSPT	TQPSSCMDNRTFLYPGVVKTPVSPT	9.0	2.0	unscreened	-	3881_21:16337512-16337512 G>A_TQPSSCMDNRTFLYPGVVKTPVSPT
3:43388923-43388923 C>T	1.0	3881	MELANOMA	-	-	-	-	SNRK	ENST00000454177,p.P391L|ENST00000429705,p.P391L|NM_017719,p.P391L|ENST00000437827,p.P185L|uc003cmt.4,p.P391L|uc011azr.2,p.P185L|NM_001100594,p.P391L|uc003cms.4,p.P391L|ENST00000296088,p.P391L|uc010hik.3,p.P391L	retained_intron, protein_coding, processed_transcript	uc011azr.2	nonsynonymous SNV	exon5	c.C554T	p.P185L	ATPLSHATVPQSPARAADSVLNGHR	ATPLSHATVPQSLARAADSVLNGHR	9.0	2.0	unscreened	-	3881_3:43388923-43388923 C>T_ATPLSHATVPQSLARAADSVLNGHR
5:169028470-169028470 C>T	1.0	3881	MELANOMA	-	-	-	-	SPDL1	ENST00000265295,p.S504L|uc010jjj.3,p.S433L|uc011deq.2,p.S321L|uc003mae.4,p.S504L|uc010jjk.3,p.S230L|NM_017785,p.S504L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011deq.2	nonsynonymous SNV	exon10	c.C962T	p.S321L	NSLEDNNLQLEKSVSIYTPVVSLSP	NSLEDNNLQLEKLVSIYTPVVSLSP	9.0	3.0	unscreened	-	3881_5:169028470-169028470 C>T_NSLEDNNLQLEKLVSIYTPVVSLSP
10:103433386-103433386 G>A	1.0	3881	MELANOMA	-	-	-	-	FBXW4	uc001kto.3,p.S134F|ENST00000331272,p.S134F|NM_022039,p.S134F	protein_coding, processed_transcript	uc001kto.3	nonsynonymous SNV	exon3	c.C401T	p.S134F	PWMQLEDDSLYISQANFILAYQFRP	PWMQLEDDSLYIFQANFILAYQFRP	8.0	2.0	unscreened	-	3881_10:103433386-103433386 G>A_PWMQLEDDSLYIFQANFILAYQFRP
18:56585989-56585989 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF532	uc002lhr.3,p.S155L|uc002lhs.3,p.S155L|ENST00000336078,p.S157L|ENST00000589288,p.S157L|uc010xeg.2,p.S157L|ENST00000591083,p.S157L|ENST00000591230,p.S157L|uc002lhp.3,p.S155L|ENST00000591808,p.S157L|NM_018181,p.S157L|uc002lho.3,p.S157L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xeg.2	nonsynonymous SNV	exon3	c.C470T	p.S157L	EVDDPPDKEDMRSSFRSNVLTGSAP	EVDDPPDKEDMRLSFRSNVLTGSAP	9.0	4.0	unscreened	-	3881_18:56585989-56585989 C>T_EVDDPPDKEDMRLSFRSNVLTGSAP
12:26572005-26572005 G>A	1.0	3881	MELANOMA	-	-	-	-	ITPR2	NM_002223,p.H2363Y|ENST00000381340,p.H2363Y|uc009zjg.1,p.H514Y|uc001rhg.3,p.H2363Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zjg.1	nonsynonymous SNV	exon13	c.C1540T	p.H514Y	AYVLVCMLGLFVHEFFYSFLLFDLV	AYVLVCMLGLFVYEFFYSFLLFDLV	8.0	8.0	-	-	3881_12:26572005-26572005 G>A_AYVLVCMLGLFVYEFFYSFLLFDLV
12:110456287-110456287 G>A	1.0	3881	MELANOMA	-	-	-	-	ANKRD13A	uc009zvm.2,p.G180R|uc010sxw.2,p.G180R|NM_033121,p.G180R|ENST00000553025,p.G92R|ENST00000261739,p.G180R|uc001tpx.3,p.G180R	retained_intron, protein_coding, processed_transcript	uc010sxw.2	nonsynonymous SNV	exon5	c.G538A	p.G180R	SWIRGRRSFIFKGEDNWAELMEVNH	SWIRGRRSFIFKREDNWAELMEVNH	9.0	4.0	unscreened	-	3881_12:110456287-110456287 G>A_SWIRGRRSFIFKREDNWAELMEVNH
2:178372750-178372750 C>T	1.0	3881	MELANOMA	-	-	-	-	AGPS	uc010zfb.1,p.P443L|ENST00000264167,p.P533L|uc002ull.2,p.P533L|NM_003659,p.P533L	retained_intron, protein_coding	uc010zfb.1	nonsynonymous SNV	exon16	c.C1328T	p.P443L	YYVLGESFETSAPWDRVVDLCRNVK	YYVLGESFETSALWDRVVDLCRNVK	8.0	3.0	unscreened	-	3881_2:178372750-178372750 C>T_YYVLGESFETSALWDRVVDLCRNVK
20:39832571-39832571 G>A	1.0	3881	MELANOMA	-	-	-	-	ZHX3	uc002xju.1,p.P329L|uc002xjt.1,p.P329L|ENST00000540170,p.P329L|ENST00000560361,p.P329L|uc010ggg.1,p.P329L|uc002xjs.1,p.P329L|ENST00000432768,p.P329L|uc002xjv.1,p.P329L|ENST00000559234,p.P329L|uc002xjr.1,p.P329L|ENST00000309060,p.P329L|uc002xjw.1,p.P329L|NM_015035,p.P329L|ENST00000544979,p.P329L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ggg.1	nonsynonymous SNV	exon1	c.C986T	p.P329L	SFLKNSFHKFPYPTKAELCYLTVVT	SFLKNSFHKFPYLTKAELCYLTVVT	7.0	5.0	unscreened	-	3881_20:39832571-39832571 G>A_SFLKNSFHKFPYLTKAELCYLTVVT
7:42006192-42006192 G>A	1.0	3881	MELANOMA	-	-	-	-	GLI3	uc011kbh.2,p.L827F|ENST00000395925,p.L827F|NM_000168,p.L827F|uc011kbg.2,p.L768F	retained_intron, protein_coding, processed_transcript	uc011kbh.2	nonsynonymous SNV	exon15	c.C2479T	p.L827F	NNTCSLGGPMTLLPGRSDLSGVDVT	NNTCSLGGPMTLFPGRSDLSGVDVT	9.0	7.0	unscreened	-	3881_7:42006192-42006192 G>A_NNTCSLGGPMTLFPGRSDLSGVDVT
1:62160382-62160382 A>G	1.0	3881	MELANOMA	-	-	-	-	TM2D1	ENST00000606498,p.L167P|ENST00000371180,p.L229P|NM_032027,p.L167P|ENST00000294613,p.L167P|uc001czz.1,p.L167P	protein_coding, processed_transcript	uc001czz.1	nonsynonymous SNV	exon5	c.T500C	p.L167P	GFCGIGSLIDFILISMQIVGPSDGS	GFCGIGSLIDFIPISMQIVGPSDGS	9.0	7.0	unscreened	-	3881_1:62160382-62160382 A>G_GFCGIGSLIDFIPISMQIVGPSDGS
22:42071143-42071143 C>T	1.0	3881	MELANOMA	-	-	-	-	NHP2L1	NM_001003796,p.E61K|uc003bat.4,p.E61K|ENST00000355257,p.E61K|ENST00000402458,p.E65K|ENST00000215956,p.E61K|ENST00000401959,p.E61K|NM_005008,p.E61K|uc003bav.3,p.E61K	retained_intron, protein_coding, processed_transcript	uc003bav.3	nonsynonymous SNV	exon3	c.G181A	p.E61K	GISEFIVMAADAEPLEIILHLPLLC	GISEFIVMAADAKPLEIILHLPLLC	10.0	5.0	unscreened	-	3881_22:42071143-42071143 C>T_GISEFIVMAADAKPLEIILHLPLLC
1:8424836-8424836 C>T	1.0	3881	MELANOMA	-	-	-	-	RERE	ENST00000377464,p.G236R|NM_012102,p.G504R|uc001ape.3,p.G504R|uc010nzx.1,p.G236R|ENST00000400908,p.G504R|uc001apf.3,p.G504R|NM_001042681,p.G504R|ENST00000337907,p.G504R	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010nzx.1	nonsynonymous SNV	exon8	c.G706A	p.G236R	DFDSEDSEQELKGYACRHCFTTTSK	DFDSEDSEQELKRYACRHCFTTTSK	10.0	7.0	unscreened	-	3881_1:8424836-8424836 C>T_DFDSEDSEQELKRYACRHCFTTTSK
5:149915323-149915323 C>T	1.0	3881	MELANOMA	-	-	-	-	NDST1	uc003lsk.4,p.P438L|ENST00000261797,p.P438L|NM_001301063,p.P438L|uc003lsl.3,p.P438L|NM_001543,p.P438L|ENST00000523767,p.P438L|uc011dcj.2,p.P438L	protein_coding, processed_transcript, TEC	uc011dcj.2	nonsynonymous SNV	exon6	c.C1313T	p.P438L	GYAVAPHHSGVYPVHVQLYEAWKQV	GYAVAPHHSGVYLVHVQLYEAWKQV	7.0	7.0	unscreened	-	3881_5:149915323-149915323 C>T_GYAVAPHHSGVYLVHVQLYEAWKQV
3:196736507-196736507 C>T	1.0	3881	MELANOMA	-	-	-	-	MFI2	uc003fxk.4,p.D503N|NM_005929,p.D503N|ENST00000296350,p.D503N	retained_intron, protein_coding	uc003fxk.4	nonsynonymous SNV	exon11	c.G1507A	p.D503N	GALIQRGFIRPKDCDVLTAVSEFFN	GALIQRGFIRPKNCDVLTAVSEFFN	9.0	10.0	CD8	-	3881_3:196736507-196736507 C>T_GALIQRGFIRPKNCDVLTAVSEFFN
3:160783218-160783218 C>T	1.0	3881	MELANOMA	-	-	-	-	PPM1L	uc003fdt.3,p.S74L|ENST00000498165,p.S201L|uc003fds.3,p.S22L|uc003fdr.3,p.S201L|ENST00000295839,p.S74L|ENST00000464260,p.S22L|NM_139245,p.S201L	protein_coding, processed_transcript	uc003fdt.3	nonsynonymous SNV	exon3	c.C221T	p.S74L	DEAGTTCLIALLSDKDLTVANVGDS	DEAGTTCLIALLLDKDLTVANVGDS	6.0	9.0	-	-	3881_3:160783218-160783218 C>T_DEAGTTCLIALLLDKDLTVANVGDS
12:124824657-124824657 G>A	1.0	3881	MELANOMA	-	-	-	1	NCOR2	uc021rgc.1,p.S1851F|uc010tba.2,p.S1869F|ENST00000429285,p.S1851F|NM_006312,p.S1861F|ENST00000404621,p.S1851F|ENST00000404121,p.S1422F|ENST00000356219,p.S1868F|uc010tbb.2,p.S1861F|NM_001077261,p.S1851F|ENST00000397355,p.S1852F|ENST00000405201,p.S1861F|uc010tbc.2,p.S1851F|NM_001206654,p.S1851F	retained_intron, protein_coding	uc021rgc.1	nonsynonymous SNV	exon38	c.C5552T	p.S1851F	ASHSHAHQHSPISPRTQDALQQRPS	ASHSHAHQHSPIFPRTQDALQQRPS	9.0	4.0	unscreened	-	3881_12:124824657-124824657 G>A_ASHSHAHQHSPIFPRTQDALQQRPS
13:21562372-21562372 G>A	1.0	3881	MELANOMA	-	-	ID=COSM1147169,COSM695816;OCCURENCE=1(lung)	-	LATS2	uc009zzs.3,p.P516L|uc001unr.4,p.P516L|ENST00000382592,p.P516L|NM_014572,p.P516L|ENST00000542899,p.P516L	protein_coding, processed_transcript	uc009zzs.3	nonsynonymous SNV	exon4	c.C1547T	p.P516L	VEYGGPDRRCPPPPYPKHLLLRSKS	VEYGGPDRRCPPLPYPKHLLLRSKS	8.0	4.0	unscreened	-	3881_13:21562372-21562372 G>A_VEYGGPDRRCPPLPYPKHLLLRSKS
1:25773346-25773346 C>G	1.0	3881	MELANOMA	-	-	-	-	TMEM57	NM_018202,p.F58L|NM_001282564,p.F58L|uc009vru.3,p.F58L|uc001bkk.3,p.F58L|ENST00000374343,p.F58L|ENST00000399766,p.F58L	protein_coding, processed_transcript	uc009vru.3	nonsynonymous SNV	exon2	c.C174G	p.F58L	FVLEFRFEYLWPFWLFIRSVYDSFR	FVLEFRFEYLWPLWLFIRSVYDSFR	7.0	7.0	unscreened	-	3881_1:25773346-25773346 C>G_FVLEFRFEYLWPLWLFIRSVYDSFR
12:29463970-29463970 G>A	1.0	3881	MELANOMA	-	-	-	-	FAR2	uc009zjm.4,p.G163R|NM_001271783,p.G260R|NM_018099,p.G260R|ENST00000182377,p.G260R|uc001ris.5,p.G260R|NM_001271784,p.G163R|ENST00000547116,p.G163R|ENST00000536681,p.G260R|uc001rit.4,p.G260R	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zjm.4	nonsynonymous SNV	exon6	c.G487A	p.G163R	NGPNGIIIATGKGFLRAIKATPMAV	NGPNGIIIATGKRFLRAIKATPMAV	9.0	6.0	unscreened	-	3881_12:29463970-29463970 G>A_NGPNGIIIATGKRFLRAIKATPMAV
17:33953783-33953783 C>T	1.0	3881	MELANOMA	-	-	-	-	AP2B1	uc002hjr.3,p.P287L|ENST00000312678,p.P287L|uc002hjq.3,p.P287L|NM_001030006,p.P287L|ENST00000592545,p.P249L|ENST00000589344,p.P287L|ENST00000537622,p.P287L|ENST00000262325,p.P287L|uc010ctv.3,p.P287L|uc002hjt.3,p.P287L|ENST00000538556,p.P230L|uc010wcj.2,p.P24L|uc002hjs.3,p.P230L|uc010wci.2,p.P249L|NM_001282,p.P287L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wcj.2	nonsynonymous SNV	exon3	c.C71T	p.P24L	DYYNMLLKKLAPPLVTLLSGEPEVQ	DYYNMLLKKLAPLLVTLLSGEPEVQ	9.0	6.0	unscreened	-	3881_17:33953783-33953783 C>T_DYYNMLLKKLAPLLVTLLSGEPEVQ
12:549847-549847 C>T	1.0	3881	MELANOMA	-	-	ID=COSM227324;OCCURENCE=1(skin)	-	CCDC77	NM_001130147,p.S337F|ENST00000422000,p.S337F|ENST00000543504,p.S337F|uc001qig.3,p.S369F|ENST00000412006,p.S337F|ENST00000540180,p.S337F|NM_001130146,p.S337F|NM_001130148,p.S337F|uc010sdq.2,p.S337F|NM_032358,p.S369F|uc010sdp.2,p.S337F|ENST00000239830,p.S369F|uc009zdk.3,p.S337F	retained_intron, protein_coding, processed_transcript	uc010sdq.2	nonsynonymous SNV	exon10	c.C1010T	p.S337F	KKLSNMYQEQCISLEEELARIREEE	KKLSNMYQEQCIFLEEELARIREEE	8.0	7.0	unscreened	-	3881_12:549847-549847 C>T_KKLSNMYQEQCIFLEEELARIREEE
20:422534-422534 G>A	1.0	3881	MELANOMA	-	-	-	-	TBC1D20	NM_144628,p.S164F|ENST00000354200,p.S164F|uc002wds.3,p.S164F|ENST00000461304,p.S164F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002wds.3	nonsynonymous SNV	exon4	c.C491T	p.S164F	TFLLVVGERLATSLVEKLSTHHLRD	TFLLVVGERLATFLVEKLSTHHLRD	7.0	1.0	unscreened	-	3881_20:422534-422534 G>A_TFLLVVGERLATFLVEKLSTHHLRD
X:47496479-47496479 G>A	1.0	3881	MELANOMA	-	-	-	-	ELK1	uc010nhw.4,p.P264L|uc004dik.5,p.P374L|NM_005229,p.P374L|ENST00000376983,p.P374L|ENST00000247161,p.P374L|ENST00000592066,p.P320L|NM_001114123,p.P374L|uc010nhv.4,p.P374L	protein_coding, processed_transcript	uc010nhw.4	nonsynonymous SNV	exon4	c.C791T	p.P264L	LTPVLLTPSSLPPSIHFWSTLSPIA	LTPVLLTPSSLPLSIHFWSTLSPIA	9.0	10.0	-	-	3881_X:47496479-47496479 G>A_LTPVLLTPSSLPLSIHFWSTLSPIA
1:8424836-8424836 C>T	1.0	3881	MELANOMA	-	-	-	-	RERE	ENST00000400907,p.G504R	retained_intron, protein_coding, processed_transcript, non_stop_decay	ENST00000400907	nonsynonymous SNV	exon13	c.G1510A	p.G504R	DFDSEDSEQELKGYACRHCFTTSTP	DFDSEDSEQELKRYACRHCFTTSTP	10.0	7.0	unscreened	-	3881_1:8424836-8424836 C>T_DFDSEDSEQELKRYACRHCFTTSTP
14:69522154-69522154 C>G	1.0	3881	MELANOMA	-	-	-	-	DCAF5	ENST00000557386,p.A416P|NM_003861,p.A417P|ENST00000554215,p.A335P|ENST00000341516,p.A417P|ENST00000556847,p.A335P|NM_001284206,p.A416P|NM_001284207,p.A335P|uc001xkp.3,p.A417P|uc001xkq.3,p.A416P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xkq.3	nonsynonymous SNV	exon9	c.G1246C	p.A416P	ANQSVQEDPRMMAFFDSLVRREIEG	ANQSVQEDPRMMPFFDSLVRREIEG	8.0	6.0	unscreened	-	3881_14:69522154-69522154 C>G_ANQSVQEDPRMMPFFDSLVRREIEG
X:119389072-119389072 C>T	1.0	3881	MELANOMA	-	-	-	-	ZBTB33	uc004esn.1,p.S601F|ENST00000326624,p.S601F|NM_001184742,p.S601F|ENST00000557385,p.S601F|uc010nqm.1,p.S601F|NM_006777,p.S601F|uc022cdm.1,p.S601F	protein_coding	uc022cdm.1	nonsynonymous SNV	exon1	c.C1802T	p.S601F	CRSLQIRQYAYLSDRSSTIPAMKDD	CRSLQIRQYAYLFDRSSTIPAMKDD	9.0	9.0	unscreened	-	3881_X:119389072-119389072 C>T_CRSLQIRQYAYLFDRSSTIPAMKDD
4:60043-60043 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF595,ZNF718	ENST00000509152,p.P75S|uc010iay.2,p.P75S	retained_intron, protein_coding, processed_transcript	uc010iay.2	nonsynonymous SNV	exon3	c.C223T	p.P75S	CNLKIHETAAKPPVVQHFWSLQF	CNLKIHETAAKPSVVQHFWSLQF	10.0	1.0	unscreened	-	3881_4:60043-60043 C>T_CNLKIHETAAKPSVVQHFWSLQF
19:40721015-40721015 C>T	1.0	3881	MELANOMA	-	-	-	-	MAP3K10	ENST00000253055,p.P894L|NM_002446,p.P894L|uc002ona.3,p.P894L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ona.3	nonsynonymous SNV	exon10	c.C2681T	p.P894L	TFAPRPRPAASRPRLDPWKLVSFGR	TFAPRPRPAASRLRLDPWKLVSFGR	7.0	4.0	unscreened	-	3881_19:40721015-40721015 C>T_TFAPRPRPAASRLRLDPWKLVSFGR
8:124138850-124138850 C>T	1.0	3881	MELANOMA	-	-	-	-	TBC1D31	NM_145647,p.L603F|ENST00000378080,p.L498F|uc003yps.2,p.L316F|uc003ypp.2,p.L603F|ENST00000287380,p.L603F|ENST00000309336,p.L603F|uc011lih.2,p.L493F|ENST00000522420,p.L498F|ENST00000521676,p.L480F|ENST00000327098,p.L603F|ENST00000518805,p.L236F|uc011lig.2,p.L603F|NM_001145088,p.L603F|uc003ypu.2,p.L60F	retained_intron, protein_coding, nonsense_mediated_decay	uc011lih.2	nonsynonymous SNV	exon12	c.C1477T	p.L493F	LFDNIFSNHPSFLLMTVVAYNICSR	LFDNIFSNHPSFFLMTVVAYNICSR	6.0	6.0	unscreened	-	3881_8:124138850-124138850 C>T_LFDNIFSNHPSFFLMTVVAYNICSR
11:10328088-10328088 C>T	1.0	3881	MELANOMA	-	-	-	-	ADM	ENST00000278175,p.S153F|NM_001124,p.S153F|ENST00000530439,p.S85F|ENST00000525063,p.S153F|ENST00000528655,p.S153F|ENST00000534464,p.S106F|uc001mil.1,p.S153F	protein_coding	uc001mil.1	nonsynonymous SNV	exon4	c.C458T	p.S153F	ISPQGYGRRRRRSLPEAGPGRTLVS	ISPQGYGRRRRRFLPEAGPGRTLVS	7.0	6.0	unscreened	-	3881_11:10328088-10328088 C>T_ISPQGYGRRRRRFLPEAGPGRTLVS
14:53180624-53180624 C>T	1.0	3881	MELANOMA	-	-	-	-	PSMC6	uc010tqx.2,p.P170L|ENST00000555339,p.P116L|ENST00000445930,p.P170L|NM_002806,p.P170L|uc010tqw.2,p.P136L|ENST00000606149,p.P156L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tqx.2	nonsynonymous SNV	exon7	c.C509T	p.P170L	ELREVIELPLTNPELFQRVGIIPPK	ELREVIELPLTNLELFQRVGIIPPK	10.0	3.0	unscreened	-	3881_14:53180624-53180624 C>T_ELREVIELPLTNLELFQRVGIIPPK
14:53003476-53003476 G>A	1.0	3881	MELANOMA	-	-	-	-	TXNDC16	NM_001160047,p.T118I|NM_020784,p.T118I|ENST00000281741,p.T118I|uc001wzs.3,p.T118I|uc010tqu.2,p.T118I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tqu.2	nonsynonymous SNV	exon6	c.C353T	p.T118I	KGNILLREFPTDTLFDVNAIVAHVL	KGNILLREFPTDILFDVNAIVAHVL	7.0	8.0	-	-	3881_14:53003476-53003476 G>A_KGNILLREFPTDILFDVNAIVAHVL
2:200137236-200137236 G>A	1.0	3881	MELANOMA	-	-	-	-	SATB2	uc010fsq.2,p.H516Y|NM_015265,p.H634Y|ENST00000417098,p.H634Y|ENST00000443023,p.H575Y|ENST00000428695,p.H516Y|ENST00000260926,p.H634Y|uc002uuy.2,p.H634Y|uc002uuz.2,p.H634Y|NM_001172517,p.H634Y|ENST00000457245,p.H634Y|uc002uva.2,p.H634Y|NM_001172509,p.H634Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fsq.2	nonsynonymous SNV	exon7	c.C1546T	p.H516Y	SLEALGILQSFIHDVGLYPDQEAIH	SLEALGILQSFIYDVGLYPDQEAIH	7.0	7.0	unscreened	-	3881_2:200137236-200137236 G>A_SLEALGILQSFIYDVGLYPDQEAIH
17:7416233-7416233 C>T	1.0	3881	MELANOMA	-	-	-	-	POLR2A	ENST00000322644,p.P1583S|NM_000937,p.P1583S|uc002ghf.4,p.P1583S	retained_intron, protein_coding	uc002ghf.4	nonsynonymous SNV	exon28	c.C4747T	p.P1583S	SPGSPGPSSPYIPSPGGAMSPSYSP	SPGSPGPSSPYISSPGGAMSPSYSP	9.0	5.0	unscreened	-	3881_17:7416233-7416233 C>T_SPGSPGPSSPYISSPGGAMSPSYSP
15:44890985-44890985 G>A	1.0	3881	MELANOMA	-	-	-	-	SPG11	uc010uei.2,p.H1246Y|ENST00000261866,p.H1246Y|ENST00000427534,p.H1246Y|NM_001160227,p.H1246Y|uc010ueh.2,p.H1246Y|NM_025137,p.H1246Y|ENST00000558319,p.H1246Y|ENST00000535302,p.H1246Y|uc001ztx.3,p.H1246Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010uei.2	nonsynonymous SNV	exon22	c.C3736T	p.H1246Y	GNEAYVIGLSSFHIPSIGAACVCFL	GNEAYVIGLSSFYIPSIGAACVCFL	9.0	2.0	unscreened	-	3881_15:44890985-44890985 G>A_GNEAYVIGLSSFYIPSIGAACVCFL
7:128446875-128446875 G>A	1.0	3881	MELANOMA	-	-	-	-	CCDC136	ENST00000487361,p.R408K|uc003vnv.2,p.R461K|NM_022742,p.R461K|uc003vny.2,p.R71K|ENST00000464672,p.R52K|ENST00000297788,p.R461K|uc003vnx.2,p.R277K	retained_intron, protein_coding, processed_transcript	uc003vny.2	nonsynonymous SNV	exon2	c.G212A	p.R71K	ELQCHEAELQHLRDTVASFKESNEK	ELQCHEAELQHLKDTVASFKESNEK	6.0	5.0	unscreened	-	3881_7:128446875-128446875 G>A_ELQCHEAELQHLKDTVASFKESNEK
3:36873197-36873197 G>A	1.0	3881	MELANOMA	-	-	-	-	TRANK1	uc003cgj.3,p.S2582F|ENST00000428977,p.S2032F|ENST00000301807,p.S2032F|NM_014831,p.S2582F|ENST00000429976,p.S2582F	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon21	c.C7745T	p.S2582F	VVKRVLVAVNVKSVAEALQDLLFER	VVKRVLVAVNVKFVAEALQDLLFER	7.0	9.0	unscreened	-	3881_3:36873197-36873197 G>A_VVKRVLVAVNVKFVAEALQDLLFER
10:909708-909726 GTCATATTCTGAGGGACCC>-	1.0	3881	MELANOMA	-	-	-	2	LARP4B	uc031ptb.1,p.L129fs|ENST00000316157,p.L129fs|NM_015155,p.L129fs	protein_coding, processed_transcript	uc031ptb.1	frameshift deletion	exon5	c.387_405del	p.L129fs	QESDPADMNALALGPSEYDSLPENS	QESDPADMNALALLCLKIARQEEMSLNQTARKTPEKYLKKHWNSAYLGRTLLVTCILYHRWIVTSMCQSQRWLTSTTSRSSALMWT	9.0	1.0	unscreened	-	3881_10:909708-909726 GTCATATTCTGAGGGACCC>-_QESDPADMNALALLCLKIARQEEMSLNQTARKTPEKYLKKHWNSAYLGRTLLVTCILYHRWIVTSMCQSQRWLTSTTSRSSALMWT
6:31855417-31855417 G>A	1.0	3881	MELANOMA	-	-	-	-	EHMT2	NM_006709,p.H650Y|uc011don.1,p.H673Y|uc003nxz.1,p.H650Y|ENST00000375537,p.H650Y|ENST00000375528,p.H673Y|ENST00000395728,p.H707Y|NM_025256,p.H616Y|uc003nxy.1,p.H441Y|uc003nya.1,p.H616Y|NM_001289413,p.H673Y|ENST00000375530,p.H616Y	retained_intron, protein_coding, processed_transcript	uc011don.1	nonsynonymous SNV	exon13	c.C2017T	p.H673Y	IQESERRKKLRFHPRQLYLSVKQGE	IQESERRKKLRFYPRQLYLSVKQGE	8.0	5.0	unscreened	-	3881_6:31855417-31855417 G>A_IQESERRKKLRFYPRQLYLSVKQGE
3:122459499-122459499 G>A	1.0	3881	MELANOMA	-	-	-	-	HSPBAP1	uc003efu.2,p.P387L|NM_024610,p.P387L|ENST00000306103,p.P387L|uc003eft.2,p.P98L	protein_coding, processed_transcript	uc003efu.2	nonsynonymous SNV	exon8	c.C1160T	p.P387L	LTTGTDKPEAASPFGPDLVPVAQRS	LTTGTDKPEAASLFGPDLVPVAQRS	7.0	9.0	unscreened	-	3881_3:122459499-122459499 G>A_LTTGTDKPEAASLFGPDLVPVAQRS
4:60043-60043 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF595,ZNF718	NM_001289931,p.P43S|uc003fzt.4,p.P75S|NM_001039127,p.P75S	retained_intron, protein_coding, processed_transcript	uc003fzt.4	nonsynonymous SNV	exon3	c.C223T	p.P75S	YNLKIHETAARPPAVCSHFTQNLWT	YNLKIHETAARPSAVCSHFTQNLWT	10.0	1.0	unscreened	-	3881_4:60043-60043 C>T_YNLKIHETAARPSAVCSHFTQNLWT
17:1582385-1582385 G>A	1.0	3881	MELANOMA	-	-	-	-	PRPF8	NM_006445,p.H509Y|ENST00000304992,p.H509Y|uc002fte.3,p.H509Y|ENST00000577001,p.H454Y|ENST00000572621,p.H509Y	retained_intron, protein_coding, processed_transcript	uc002fte.3	nonsynonymous SNV	exon11	c.C1525T	p.H509Y	CRQGYNMLNLLIHRKNLNYLHLDYN	CRQGYNMLNLLIYRKNLNYLHLDYN	10.0	4.0	unscreened	-	3881_17:1582385-1582385 G>A_CRQGYNMLNLLIYRKNLNYLHLDYN
16:22269972-22269972 C>T	1.0	3881	MELANOMA	-	-	ID=COSM232234;OCCURENCE=1(skin)	-	EEF2K	ENST00000568269,p.S396F|ENST00000263026,p.S396F|NM_013302,p.S396F|uc002dki.3,p.S396F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dki.3	nonsynonymous SNV	exon10	c.C1187T	p.S396F	NMSDVTFDSLPSSPSSATPHSQKLD	NMSDVTFDSLPSFPSSATPHSQKLD	8.0	5.0	unscreened	-	3881_16:22269972-22269972 C>T_NMSDVTFDSLPSFPSSATPHSQKLD
14:59791090-59791090 C>T	1.0	3881	MELANOMA	-	-	-	-	DAAM1	uc001xeb.1,p.H303Y|uc031qou.1,p.H303Y|ENST00000360909,p.H303Y|ENST00000351081,p.H303Y|NM_014992,p.H303Y|NM_001270520,p.H303Y|uc001xea.2,p.H303Y|ENST00000395125,p.H303Y	retained_intron, protein_coding, processed_transcript	uc031qou.1	nonsynonymous SNV	exon7	c.C907T	p.H303Y	QGAGVESLDFRLHLRYEFLMLGIQP	QGAGVESLDFRLYLRYEFLMLGIQP	9.0	3.0	unscreened	-	3881_14:59791090-59791090 C>T_QGAGVESLDFRLYLRYEFLMLGIQP
13:43500482-43500482 G>A	1.0	3881	MELANOMA	-	-	-	-	EPSTI1	uc001uyw.2,p.S216F|NM_001002264,p.S216F|ENST00000398762,p.S216F|ENST00000313640,p.S216F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uyw.2	nonsynonymous SNV	exon7	c.C647T	p.S216F	RSACQSAVCGPQSSTWKLPILPRDH	RSACQSAVCGPQFSTWKLPILPRDH	9.0	5.0	unscreened	-	3881_13:43500482-43500482 G>A_RSACQSAVCGPQFSTWKLPILPRDH
2:69627519-69627519 G>A	1.0	3881	MELANOMA	-	-	-	-	NFU1	uc002sfn.2,p.P233S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002sfn.2	nonsynonymous SNV	exon7	c.C697T	p.P233S	KNGIQNMLQFYIPEVEGVEQVCQYY	KNGIQNMLQFYISEVEGVEQVCQYY	7.0	3.0	unscreened	-	3881_2:69627519-69627519 G>A_KNGIQNMLQFYISEVEGVEQVCQYY
7:1516529-1516529 G>A	1.0	3881	MELANOMA	-	-	-	-	INTS1	NM_001080453,p.S1655L|ENST00000389470,p.S1854L|ENST00000404767,p.S1655L|uc003skn.2,p.S1655L	retained_intron, protein_coding, processed_transcript	uc003skn.2	nonsynonymous SNV	exon36	c.C4964T	p.S1655L	SRRKGKGQAQVPSFRPYLLTLFTHQ	SRRKGKGQAQVPLFRPYLLTLFTHQ	9.0	10.0	-	-	3881_7:1516529-1516529 G>A_SRRKGKGQAQVPLFRPYLLTLFTHQ
4:87696378-87696378 C>T	1.0	3881	MELANOMA	-	-	-	1	PTPN13	NM_080683,p.R1855W|NM_006264,p.R1836W|ENST00000316707,p.R1664W|uc003hqb.3,p.R1664W|NM_080685,p.R1860W|ENST00000511467,p.R1860W|uc003hqc.1,p.R221W|uc003hpy.3,p.R1860W|NM_080684,p.R1664W|ENST00000411767,p.R1855W|ENST00000427191,p.R1836W|ENST00000436978,p.R1860W|uc003hpz.3,p.R1855W|uc003hqa.3,p.R1836W	retained_intron, protein_coding	uc003hqc.1	nonsynonymous SNV	exon6	c.C661T	p.R221W	TNMTHTDAVNLLRAASKTVRLVIGR	TNMTHTDAVNLLWAASKTVRLVIGR	6.0	10.0	-	-	3881_4:87696378-87696378 C>T_TNMTHTDAVNLLWAASKTVRLVIGR
15:99796254-99796254 C>T	1.0	3881	MELANOMA	-	-	-	-	LRRC28	NM_144598,p.P31L|NM_001284400,p.P31L|ENST00000559433,p.P31L|ENST00000301981,p.P31L|ENST00000558172,p.P31L|ENST00000422500,p.P31L|uc002bva.1,p.P31L|ENST00000331450,p.P31L|uc002bvd.1,p.P31L|uc010uru.1,p.P31L|ENST00000447360,p.P31L|ENST00000558861,p.P31L|ENST00000558879,p.P31L|ENST00000442993,p.P31L|uc002bvc.1,p.P31L|ENST00000558471,p.P31L|ENST00000561253,p.P31L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uru.1	nonsynonymous SNV	exon2	c.C92T	p.P31L	NLFLNYRNLHHFPLELLKDEGLQYL	NLFLNYRNLHHFLLELLKDEGLQYL	7.0	1.0	unscreened	-	3881_15:99796254-99796254 C>T_NLFLNYRNLHHFLLELLKDEGLQYL
7:100855624-100855624 G>A	1.0	3881	MELANOMA	-	-	-	-	PLOD3	ENST00000223127,p.S346F|NM_001084,p.S346F|uc003uyd.3,p.S346F	retained_intron, protein_coding, nonsense_mediated_decay	uc003uyd.3	nonsynonymous SNV	exon10	c.C1037T	p.S346F	NNEVFHEPHIADSWPQLQDHFSAVK	NNEVFHEPHIADFWPQLQDHFSAVK	10.0	7.0	unscreened	-	3881_7:100855624-100855624 G>A_NNEVFHEPHIADFWPQLQDHFSAVK
13:39585621-39585621 G>A	1.0	3881	MELANOMA	-	-	-	-	PROSER1	ENST00000350125,p.H884Y|ENST00000352251,p.H906Y|uc001uwy.4,p.H906Y|NM_025138,p.H906Y	protein_coding, processed_transcript	uc001uwy.4	nonsynonymous SNV	exon13	c.C2716T	p.H906Y	NAAAQSALLQQVHSASALESYPAQP	NAAAQSALLQQVYSASALESYPAQP	8.0	3.0	unscreened	-	3881_13:39585621-39585621 G>A_NAAAQSALLQQVYSASALESYPAQP
22:20749629-20749629 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF74	ENST00000405993,p.S14F|ENST00000400451,p.S14F|NM_003426,p.S14F|ENST00000437275,p.S14F|NM_001256524,p.S14F|ENST00000356671,p.S14F|uc010gsm.4,p.S14F|uc002zsh.4,p.S14F	retained_intron, protein_coding, nonsense_mediated_decay	uc010gsm.4	nonsynonymous SNV	exon3	c.C41T	p.S14F	EIPAPEPEKTALSSQDPALSLKENL	EIPAPEPEKTALFSQDPALSLKENL	6.0	8.0	unscreened	-	3881_22:20749629-20749629 C>T_EIPAPEPEKTALFSQDPALSLKENL
2:69627519-69627519 G>A	1.0	3881	MELANOMA	-	-	-	-	NFU1	uc002sfm.3,p.P92S|NM_001002755,p.P233S|NM_015700,p.P209S|ENST00000303698,p.P209S|uc002sfj.3,p.P209S|uc002sfk.3,p.P233S|ENST00000394305,p.P92S|ENST00000410022,p.P233S|ENST00000462320,p.P92S|NM_001002756,p.P92S|uc002sfl.3,p.P92S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002sfm.3	nonsynonymous SNV	exon6	c.C274T	p.P92S	KNGIQNMLQFYIPEVEGVEQVMDDE	KNGIQNMLQFYISEVEGVEQVMDDE	7.0	3.0	unscreened	-	3881_2:69627519-69627519 G>A_KNGIQNMLQFYISEVEGVEQVMDDE
1:155324402-155324402 G>A	1.0	3881	MELANOMA	-	-	-	-	ASH1L	ENST00000392403,p.H2359Y|ENST00000368346,p.H2364Y|uc001fkt.3,p.H2359Y|NM_018489,p.H2359Y|uc009wqq.3,p.H2364Y	retained_intron, protein_coding, nonsense_mediated_decay	uc009wqq.3	nonsynonymous SNV	exon16	c.C7090T	p.H2364Y	MSNRERNFVLKHHVFLVRNWEKIRQ	MSNRERNFVLKHYVFLVRNWEKIRQ	8.0	9.0	-	-	3881_1:155324402-155324402 G>A_MSNRERNFVLKHYVFLVRNWEKIRQ
16:16228244-16228244 C>T	1.0	3881	MELANOMA	-	-	-	-	ABCC1	ENST00000399410,p.S1335F|uc010bvi.3,p.S1335F|ENST00000351154,p.S1276F|ENST00000345148,p.S1335F|ENST00000399408,p.S1345F|ENST00000349029,p.S1220F|ENST00000346370,p.S1279F|NM_004996,p.S1335F|uc002del.4,p.S1229F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bvi.3	nonsynonymous SNV	exon28	c.C4004T	p.S1335F	VGIVGRTGAGKSSLTLGLFRINESA	VGIVGRTGAGKSFLTLGLFRINESA	7.0	6.0	unscreened	-	3881_16:16228244-16228244 C>T_VGIVGRTGAGKSFLTLGLFRINESA
10:88259840-88259840 G>A	1.0	3881	MELANOMA	-	-	-	-	WAPAL	uc001kdo.3,p.S387F|uc001kdn.3,p.S430F|ENST00000298767,p.S387F|NM_015045,p.S387F|uc009xsw.3,p.S387F	protein_coding, processed_transcript	uc009xsw.3	nonsynonymous SNV	exon3	c.C1160T	p.S387F	DTMERSMDEFTASTPADLGEAGRLR	DTMERSMDEFTAFTPADLGEAGRLR	8.0	3.0	unscreened	-	3881_10:88259840-88259840 G>A_DTMERSMDEFTAFTPADLGEAGRLR
19:33200193-33200193 C>T	1.0	3881	MELANOMA	-	-	-	-	NUDT19	uc010edf.3,p.L273F|NM_001105570,p.L273F|ENST00000397061,p.L273F	protein_coding	uc010edf.3	nonsynonymous SNV	exon2	c.C817T	p.L273F	FYEVRRLANFASLSDLHKFCLGRAL	FYEVRRLANFASFSDLHKFCLGRAL	6.0	6.0	unscreened	-	3881_19:33200193-33200193 C>T_FYEVRRLANFASFSDLHKFCLGRAL
1:234603270-234603270 G>A	1.0	3881	MELANOMA	-	-	-	-	TARBP1	ENST00000040877,p.P409L|uc001hwd.3,p.P409L|NM_005646,p.P409L	protein_coding, processed_transcript	uc001hwd.3	nonsynonymous SNV	exon4	c.C1226T	p.P409L	IHFLELYETKILPFSPEFSEFIIGP	IHFLELYETKILLFSPEFSEFIIGP	8.0	1.0	unscreened	-	3881_1:234603270-234603270 G>A_IHFLELYETKILLFSPEFSEFIIGP
10:135093295-135093295 G>A	1.0	3881	MELANOMA	-	-	-	-	TUBGCP2	uc010qvd.2,p.P765L|ENST00000417178,p.P765L|ENST00000543663,p.P923L|ENST00000368562,p.P488L|uc001lmf.2,p.P488L|NM_001256618,p.P765L|uc010qvc.2,p.P923L|ENST00000368563,p.P895L|uc001lmg.2,p.P895L|NM_006659,p.P895L|uc009ybk.2,p.P918L|ENST00000252936,p.P895L|NM_001256617,p.P923L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qvd.2	nonsynonymous SNV	exon17	c.C2294T	p.P765L	QVPVLRGPPAPAPRVAVTAQ	QVPVLRGPPAPALRVAVTAQ	8.0	10.0	-	-	3881_10:135093295-135093295 G>A_QVPVLRGPPAPALRVAVTAQ
22:42296339-42296339 C>T	1.0	3881	MELANOMA	-	-	-	-	SREBF2	NM_004599,p.P915L|ENST00000361204,p.P915L|uc003bbi.3,p.P915L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003bbi.3	nonsynonymous SNV	exon16	c.C2744T	p.P915L	ERIPKALEVTESPLVKAIFHACRAM	ERIPKALEVTESLLVKAIFHACRAM	8.0	6.0	unscreened	-	3881_22:42296339-42296339 C>T_ERIPKALEVTESLLVKAIFHACRAM
22:18301366-18301366 G>A	1.0	3881	MELANOMA	-	-	-	-	MICAL3	uc002zng.4,p.P1354L|NM_015241,p.P1354L|uc011agl.2,p.P1270L|ENST00000441493,p.P1354L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011agl.2	nonsynonymous SNV	exon23	c.C3809T	p.P1270L	PVDRSKGPEPSFPTPAFRPVSLKSY	PVDRSKGPEPSFLTPAFRPVSLKSY	10.0	6.0	unscreened	-	3881_22:18301366-18301366 G>A_PVDRSKGPEPSFLTPAFRPVSLKSY
6:16327710-16327710 G>A	1.0	3881	MELANOMA	-	-	-	-	ATXN1	NM_000332,p.P278S|uc003nbt.3,p.P278S|ENST00000436367,p.P278S|ENST00000244769,p.P278S|NM_001128164,p.P278S|uc010jpi.3,p.P278S	protein_coding, processed_transcript	uc010jpi.3	nonsynonymous SNV	exon7	c.C832T	p.P278S	IPVHLHPHQTMIPHTLTLGPPSQVV	IPVHLHPHQTMISHTLTLGPPSQVV	8.0	6.0	unscreened	-	3881_6:16327710-16327710 G>A_IPVHLHPHQTMISHTLTLGPPSQVV
2:69627519-69627519 G>A	1.0	3881	MELANOMA	-	-	-	-	NFU1	ENST00000474230,p.P110S	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000474230	nonsynonymous SNV	exon3	c.C328T	p.P110S	KNGIQNMLQFYIPEVEGVEQEYNTA	KNGIQNMLQFYISEVEGVEQEYNTA	7.0	3.0	unscreened	-	3881_2:69627519-69627519 G>A_KNGIQNMLQFYISEVEGVEQEYNTA
1:225688752-225688752 G>A	1.0	3881	MELANOMA	-	-	-	-	ENAH	NM_001008493,p.S541L|ENST00000366844,p.S541L|uc001hpb.1,p.S160L|uc001hpc.1,p.S541L	retained_intron, protein_coding, processed_transcript	uc001hpc.1	nonsynonymous SNV	exon13	c.C1622T	p.S541L	YDSLHRPKSTPLSQPSANGVQTEGL	YDSLHRPKSTPLLQPSANGVQTEGL	10.0	10.0	-	-	3881_1:225688752-225688752 G>A_YDSLHRPKSTPLLQPSANGVQTEGL
9:117836013-117836013 C>T	1.0	3881	MELANOMA	-	-	-	2	TNC	ENST00000537320,p.G1028E|uc004bjj.4,p.G1028E|ENST00000340094,p.G1028E|ENST00000542877,p.G1028E|uc010mvf.3,p.G1028E|ENST00000346706,p.G1028E|ENST00000350763,p.G1028E|ENST00000345230,p.G1028E|NM_002160,p.G1028E|uc022bmj.1,p.G1028E|ENST00000341037,p.G1028E|ENST00000423613,p.G1028E|ENST00000535648,p.G1028E	protein_coding, processed_transcript	uc022bmj.1	nonsynonymous SNV	exon9	c.G3083A	p.G1028E	RLNYSLPTGQWVGVQLPRNTTSYVL	RLNYSLPTGQWVEVQLPRNTTSYVL	10.0	10.0	-	-	3881_9:117836013-117836013 C>T_RLNYSLPTGQWVEVQLPRNTTSYVL
1:225688752-225688752 G>A	1.0	3881	MELANOMA	-	-	-	-	ENAH	uc021pju.1,p.S470L|NM_018212,p.S520L|ENST00000284563,p.S767L|ENST00000366843,p.S520L|uc001hpd.1,p.S520L	retained_intron, protein_coding, processed_transcript	uc021pju.1	nonsynonymous SNV	exon10	c.C1409T	p.S470L	SPVISRPKSTPLSQPSANGVQTEGL	SPVISRPKSTPLLQPSANGVQTEGL	10.0	10.0	-	-	3881_1:225688752-225688752 G>A_SPVISRPKSTPLLQPSANGVQTEGL
9:127911980-127911980 G>A	1.0	3881	MELANOMA	-	-	-	1	PPP6C	uc010mww.3,p.P275L|ENST00000373547,p.P297L|uc004bpg.4,p.P297L|ENST00000373546,p.P150L|NM_001123369,p.P275L|ENST00000451402,p.P334L|NM_001123355,p.P334L|uc011lzr.2,p.P150L|ENST00000415905,p.P275L|uc010mwv.3,p.P334L|NM_002721,p.P297L	protein_coding	uc011lzr.2	nonsynonymous SNV	exon5	c.C449T	p.P150L	FRAVPDSERVIPPRTTTPYFL	FRAVPDSERVIPLRTTTPYFL	8.0	10.0	-	-	3881_9:127911980-127911980 G>A_FRAVPDSERVIPLRTTTPYFL
17:38185191-38185191 C>T	1.0	3881	MELANOMA	-	-	-	-	MED24	ENST00000394128,p.E433K|ENST00000501516,p.E452K|uc010weu.2,p.E343K|uc010wes.2,p.E293K|uc002htt.3,p.E433K|ENST00000535071,p.E383K|uc002hts.3,p.E458K|NM_001267797,p.E420K|uc010cwn.3,p.E420K|NM_014815,p.E433K|NM_001079518,p.E420K|ENST00000394127,p.E420K|ENST00000394126,p.E458K|uc010wev.1,p.E383K|uc002htu.3,p.E420K|uc010wex.1,p.E138K|ENST00000356271,p.E420K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wex.1	nonsynonymous SNV	exon7	c.G412A	p.E138K	LKTMDADHSKSPEGLLGVLGHMLSG	LKTMDADHSKSPKGLLGVLGHMLSG	9.0	6.0	unscreened	-	3881_17:38185191-38185191 C>T_LKTMDADHSKSPKGLLGVLGHMLSG
17:38185191-38185191 C>T	1.0	3881	MELANOMA	-	-	-	-	MED24	ENST00000580885,p.E374K|uc010wew.1,p.E374K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wew.1	nonsynonymous SNV	exon12	c.G1120A	p.E374K	PQTMDADHSKSPEGLLGVLGHMLSG	PQTMDADHSKSPKGLLGVLGHMLSG	9.0	6.0	unscreened	-	3881_17:38185191-38185191 C>T_PQTMDADHSKSPKGLLGVLGHMLSG
20:50140109-50140109 G>A	1.0	3881	MELANOMA	-	-	-	1	NFATC2	NM_001136021,p.T204I|NM_173091,p.T224I|ENST00000414705,p.T204I|ENST00000396009,p.T224I|NM_001258292,p.T204I|uc002xwc.4,p.T224I|uc010zyx.3,p.T204I|ENST00000371564,p.T224I|uc002xwd.4,p.T224I|uc002xwe.4,p.T204I|NM_012340,p.T224I	retained_intron, protein_coding	uc010zyx.3	nonsynonymous SNV	exon2	c.C611T	p.T204I	YSPRTSPIMSPRTSLAEDSCLGRHS	YSPRTSPIMSPRISLAEDSCLGRHS	7.0	5.0	unscreened	-	3881_20:50140109-50140109 G>A_YSPRTSPIMSPRISLAEDSCLGRHS
16:30680613-30680613 C>T	1.0	3881	MELANOMA	-	-	-	-	FBRS	ENST00000356166,p.P864S|ENST00000568722,p.P256S|uc002dzc.4,p.P256S|ENST00000395073,p.P256S|uc002dzd.4,p.P344S|NM_001105079,p.P344S|ENST00000287468,p.P344S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dzd.4	nonsynonymous SNV	exon12	c.C1030T	p.P344S	PQGLHLLFERPRPPPFLGPSPPDRC	PQGLHLLFERPRSPPFLGPSPPDRC	7.0	8.0	-	-	3881_16:30680613-30680613 C>T_PQGLHLLFERPRSPPFLGPSPPDRC
17:16552985-16552985 G>A	1.0	3881	MELANOMA	-	-	-	-	ZNF624	ENST00000583766,p.S25L|NM_020787,p.S25L|uc010cpi.2,p.S25L|ENST00000311331,p.S25L|ENST00000423860,p.S25L	retained_intron, protein_coding, processed_transcript	uc010cpi.2	nonsynonymous SNV	exon2	c.C74T	p.S25L	KPEGEIMAAVFFSVGRLSPEVTQPD	KPEGEIMAAVFFLVGRLSPEVTQPD	6.0	5.0	unscreened	-	3881_17:16552985-16552985 G>A_KPEGEIMAAVFFLVGRLSPEVTQPD
6:42974832-42974832 C>T	1.0	3881	MELANOMA	-	-	-	-	PPP2R5D	uc003oth.4,p.P169L|uc011dva.3,p.P18L|NM_180976,p.P137L|uc003oti.4,p.P18L|uc003otj.4,p.P18L|ENST00000472118,p.P161L|ENST00000485511,p.P169L|ENST00000394110,p.P137L|ENST00000461010,p.P63L|uc021yzq.2,p.P137L|NM_001270476,p.P18L|NM_006245,p.P169L|uc010jyd.4,p.P63L|NM_180977,p.P63L	retained_intron, protein_coding, nonsense_mediated_decay	uc021yzq.2	nonsynonymous SNV	exon4	c.C410T	p.P137L	THSRDVVTEAIYPEAVTMFSVNLFR	THSRDVVTEAIYLEAVTMFSVNLFR	8.0	1.0	unscreened	-	3881_6:42974832-42974832 C>T_THSRDVVTEAIYLEAVTMFSVNLFR
6:49425456-49425456 G>A	1.0	3881	MELANOMA	-	-	-	-	MUT	ENST00000274813,p.P234L|NM_000255,p.P234L|uc003ozg.4,p.P234L	protein_coding	uc003ozg.4	nonsynonymous SNV	exon3	c.C701T	p.P234L	LKEFMVRNTYIFPPEPSMKIIADIF	LKEFMVRNTYIFLPEPSMKIIADIF	8.0	7.0	unscreened	-	3881_6:49425456-49425456 G>A_LKEFMVRNTYIFLPEPSMKIIADIF
21:43164089-43164089 G>A	1.0	3881	MELANOMA	-	-	-	-	RIPK4	ENST00000542057,p.S320F|uc002yzn.1,p.S383F|NM_020639,p.S383F|ENST00000544709,p.S320F|ENST00000352483,p.S431F|ENST00000332512,p.S383F	protein_coding	uc002yzn.1	nonsynonymous SNV	exon7	c.C1148T	p.S383F	LSGVSSVDSAFSSRGSLSLSFEREP	LSGVSSVDSAFSFRGSLSLSFEREP	6.0	4.0	unscreened	-	3881_21:43164089-43164089 G>A_LSGVSSVDSAFSFRGSLSLSFEREP
5:140558979-140558979 C>T	1.0	3881	MELANOMA	-	-	-	-	PCDHB8	uc011dai.2,p.T455I|ENST00000239444,p.T455I|NM_019120,p.T455I	protein_coding	uc011dai.2	nonsynonymous SNV	exon1	c.C1364T	p.T455I	SDVNDNAPAFTQTSYTLFVRENNSP	SDVNDNAPAFTQISYTLFVRENNSP	6.0	3.0	unscreened	-	3881_5:140558979-140558979 C>T_SDVNDNAPAFTQISYTLFVRENNSP
20:50287677-50287677 G>A	1.0	3881	MELANOMA	-	-	-	-	ATP9A	uc002xwg.1,p.S386L|ENST00000311637,p.S250L|ENST00000402822,p.S265L|NM_006045,p.S386L|uc010gih.1,p.S250L|ENST00000338821,p.S386L	protein_coding, processed_transcript	uc010gih.1	nonsynonymous SNV	exon7	c.C749T	p.S250L	RSSTIPEQLGRISYLLTDKTGTLTQ	RSSTIPEQLGRILYLLTDKTGTLTQ	7.0	4.0	unscreened	-	3881_20:50287677-50287677 G>A_RSSTIPEQLGRILYLLTDKTGTLTQ
13:39588328-39588328 G>A	1.0	3881	MELANOMA	-	-	-	-	PROSER1	uc001uwy.4,p.T354I|ENST00000350125,p.T332I|ENST00000352251,p.T354I|NM_025138,p.T354I	protein_coding, processed_transcript	uc001uwy.4	nonsynonymous SNV	exon11	c.C1061T	p.T354I	LPTAPVTSIHSTTTTPVPSIFSGLV	LPTAPVTSIHSTITTPVPSIFSGLV	8.0	2.0	unscreened	-	3881_13:39588328-39588328 G>A_LPTAPVTSIHSTITTPVPSIFSGLV
19:6456477-6456477 G>A	1.0	3881	MELANOMA	-	-	-	-	SLC25A23	uc002mex.1,p.S146L|NM_024103,p.S146L|ENST00000334510,p.S146L|ENST00000597307,p.S62L|ENST00000301454,p.S146L|ENST00000264088,p.S146L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mex.1	nonsynonymous SNV	exon4	c.C437T	p.S146L	DWQEWRDHFLLHSLENVEDVLYFWK	DWQEWRDHFLLHLLENVEDVLYFWK	8.0	5.0	unscreened	-	3881_19:6456477-6456477 G>A_DWQEWRDHFLLHLLENVEDVLYFWK
7:143080261-143080261 C>T	1.0	3881	MELANOMA	-	-	-	-	ZYX	NM_003461,p.S290L|ENST00000322764,p.S290L|uc011kte.2,p.S259L|uc011ktf.2,p.S133L|ENST00000354434,p.S258L|uc003wcw.3,p.S290L|ENST00000449423,p.S203L|ENST00000392910,p.S133L|uc003wcx.3,p.S290L|NM_001010972,p.S290L|uc011ktd.2,p.S133L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ktf.2	nonsynonymous SNV	exon4	c.C398T	p.S133L	SKFSPGAPGGSGSQPNQKLGHPEAL	SKFSPGAPGGSGLQPNQKLGHPEAL	9.0	4.0	unscreened	-	3881_7:143080261-143080261 C>T_SKFSPGAPGGSGLQPNQKLGHPEAL
17:7578550-7578550 G>A	1.0	3881	MELANOMA	-	-	ID=COSM216414,COSM3378368,COSM44226,COSM216412,COSM216413,COSM1637542;OCCURENCE=5(ovary),2(small_intestine),6(skin),3(large_intestine),1(biliary_tract),1(urinary_tract),3(pancreas),1(stomach),3(central_nervous_system),2(oesophagus),2(upper_aerodigestive_tract),1(bone),1(thyroid),1(lung)	1	TP53	uc002gim.3,p.S127F|uc010cnh.2,p.S127F|uc010cni.2,p.S127F	retained_intron, protein_coding, processed_transcript	uc010cni.2	nonsynonymous SNV	exon5	c.C380T	p.S127F	GTRVRAMAIYKQSQHMTEVVRRCPH	GTRVRAMAIYKQFQHMTEVVRRCPH	9.0	3.0	unscreened	-	3881_17:7578550-7578550 G>A_GTRVRAMAIYKQFQHMTEVVRRCPH
20:47628500-47628500 C>T	1.0	3881	MELANOMA	-	-	-	-	ARFGEF2	uc010zyf.2,p.S559F|ENST00000371917,p.S1266F|uc002xtx.4,p.S1266F|NM_006420,p.S1266F	protein_coding, processed_transcript	uc010zyf.2	nonsynonymous SNV	exon14	c.C1676T	p.S559F	TIFQHHFPAAIDSFQDAVKCLSEFA	TIFQHHFPAAIDFFQDAVKCLSEFA	9.0	8.0	unscreened	-	3881_20:47628500-47628500 C>T_TIFQHHFPAAIDFFQDAVKCLSEFA
11:103182758-103182758 C>T	1.0	3881	MELANOMA	-	-	-	-	DYNC2H1	uc001phn.1,p.P3889L|uc001pho.2,p.P3882L|ENST00000398093,p.P3889L|ENST00000528670,p.P275L|NM_001377,p.P3882L|ENST00000375735,p.P3882L|NM_001080463,p.P3889L	retained_intron, protein_coding, nonsense_mediated_decay	uc001pho.2	nonsynonymous SNV	exon79	c.C11645T	p.P3882L	FHAACQERRNYIPQGWTKFYEFSLS	FHAACQERRNYILQGWTKFYEFSLS	6.0	7.0	unscreened	-	3881_11:103182758-103182758 C>T_FHAACQERRNYILQGWTKFYEFSLS
3:124044858-124044858 C>T	1.0	3881	MELANOMA	-	-	ID=COSM1693357,COSM1693358;OCCURENCE=1(skin)	-	KALRN	uc003ehf.1,p.S373F|uc011bjy.1,p.S373F|ENST00000360013,p.S373F|ENST00000240874,p.S373F|uc010hrv.1,p.S373F|NM_001024660,p.S373F|uc003ehg.3,p.S373F|NM_003947,p.S373F|ENST00000460856,p.S373F	retained_intron, protein_coding, processed_transcript	uc011bjy.1	nonsynonymous SNV	exon7	c.C1118T	p.S373F	SMNAYVNINRIMSVASRLSEAGHYA	SMNAYVNINRIMFVASRLSEAGHYA	7.0	9.0	-	-	3881_3:124044858-124044858 C>T_SMNAYVNINRIMFVASRLSEAGHYA
2:238457907-238457907 C>T	1.0	3881	MELANOMA	-	-	-	-	MLPH	uc002vww.3,p.S450F|uc002vws.3,p.S411F|NM_024101,p.S554F|ENST00000437893,p.S314F|ENST00000409373,p.S434F|ENST00000434770,p.S103F|ENST00000264605,p.S554F|NM_001042467,p.S526F|ENST00000410032,p.S411F|uc002vwu.3,p.S526F|NM_001281474,p.S411F|uc002vwt.3,p.S554F|uc002vwx.3,p.S410F|ENST00000338530,p.S526F|uc002vwv.3,p.S434F|NM_001281473,p.S434F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vwx.3	nonsynonymous SNV	exon9	c.C1229T	p.S410F	AVPYLLRRKFSNSLKSQGKDDDSFD	AVPYLLRRKFSNFLKSQGKDDDSFD	10.0	4.0	unscreened	-	3881_2:238457907-238457907 C>T_AVPYLLRRKFSNFLKSQGKDDDSFD
5:137733962-137733962 C>T	1.0	3881	MELANOMA	-	-	ID=COSM1696223;OCCURENCE=1(skin)	-	KDM3B	uc010jew.1,p.S632F|uc003lcy.1,p.S976F|ENST00000394866,p.S632F|ENST00000314358,p.S976F|NM_016604,p.S976F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jew.1	nonsynonymous SNV	exon10	c.C1895T	p.S632F	SDPDAMNLWIPSSSLAEGIDLETSK	SDPDAMNLWIPSFSLAEGIDLETSK	9.0	9.0	-	-	3881_5:137733962-137733962 C>T_SDPDAMNLWIPSFSLAEGIDLETSK
X:103045477-103045477 C>T	1.0	3881	MELANOMA	-	-	-	-	PLP1	uc011msf.2,p.T207I|uc010nov.3,p.T262I|NM_199478,p.T227I|uc004elk.3,p.T262I|NM_001128834,p.T262I|uc004elj.3,p.T227I|uc010nox.3,p.T216I|ENST00000361621,p.T227I|ENST00000303958,p.T262I|ENST00000418604,p.T262I|NM_000533,p.T262I	retained_intron, protein_coding, processed_transcript	uc011msf.2	nonsynonymous SNV	exon7	c.C620T	p.T207I	TLVSLLTFMIAATYNFAVLKLMGRG	TLVSLLTFMIAAIYNFAVLKLMGRG	10.0	1.0	unscreened	-	3881_X:103045477-103045477 C>T_TLVSLLTFMIAAIYNFAVLKLMGRG
16:58073817-58073817 C>T	1.0	3881	MELANOMA	-	-	-	-	MMP15	uc002ena.3,p.S160L|ENST00000219271,p.S160L|NM_002428,p.S160L	protein_coding	uc002ena.3	nonsynonymous SNV	exon4	c.C479T	p.S160L	IQNYTEKLGWYHSMEAVRRAFRVWE	IQNYTEKLGWYHLMEAVRRAFRVWE	6.0	5.0	unscreened	-	3881_16:58073817-58073817 C>T_IQNYTEKLGWYHLMEAVRRAFRVWE
17:7797201-7797201 C>G	1.0	3881	MELANOMA	-	-	-	-	CHD3	NM_001005271,p.P350R|ENST00000380358,p.P350R|uc002gjf.2,p.P291R|NM_005852,p.P291R|ENST00000358181,p.P291R|ENST00000330494,p.P291R|uc002gjd.2,p.P350R|NM_001005273,p.P291R|uc002gje.2,p.P291R|uc002gjg.1,p.P123R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gjg.1	nonsynonymous SNV	exon3	c.C368G	p.P123R	DGRKKLRGKKMAPLKIKLGLLGGKR	DGRKKLRGKKMARLKIKLGLLGGKR	9.0	3.0	unscreened	-	3881_17:7797201-7797201 C>G_DGRKKLRGKKMARLKIKLGLLGGKR
3:194140675-194140675 A>T	1.0	3881	MELANOMA	-	-	-	-	ATP13A3	ENST00000439040,p.I1112N|ENST00000256031,p.I1112N|NM_024524,p.I1112N|uc003fty.4,p.I1112N	retained_intron, protein_coding	uc003fty.4	nonsynonymous SNV	exon30	c.T3335A	p.I1112N	PCYKNYFFVFSVIFLYIFILFIMLY	PCYKNYFFVFSVNFLYIFILFIMLY	8.0	1.0	unscreened	-	3881_3:194140675-194140675 A>T_PCYKNYFFVFSVNFLYIFILFIMLY
12:49397607-49397607 G>A	1.0	3881	MELANOMA	-	-	-	-	PRKAG1	ENST00000551770,p.P145L|ENST00000551696,p.P119L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000551770	nonsynonymous SNV	exon6	c.C434T	p.P145L	PMPILLWFALPPPSMWLWGFLYSIE	PMPILLWFALPPLSMWLWGFLYSIE	9.0	6.0	unscreened	-	3881_12:49397607-49397607 G>A_PMPILLWFALPPLSMWLWGFLYSIE
10:70056082-70056082 T>G	1.0	3881	MELANOMA	-	-	-	-	PBLD	NM_001033083,p.E75A|ENST00000432941,p.E75A|ENST00000358769,p.E75A|uc001jnu.1,p.E75A|ENST00000336578,p.E42A|uc001jnt.1,p.E75A|uc001jnr.1,p.E42A|ENST00000309049,p.E75A|uc001jns.1,p.E75A|NM_022129,p.E75A	protein_coding, processed_transcript	uc001jnu.1	nonsynonymous SNV	exon4	c.A224C	p.E75A	SCFGLRWFTPASEVPLCGHATLASA	SCFGLRWFTPASAVPLCGHATLASA	6.0	3.0	unscreened	-	3881_10:70056082-70056082 T>G_SCFGLRWFTPASAVPLCGHATLASA
14:74766255-74766255 G>A	1.0	3881	MELANOMA	-	-	-	-	ABCD4	uc001xpr.2,p.S94F|ENST00000557588,p.S94F|NM_005050,p.S94F|ENST00000356924,p.S94F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xpr.2	nonsynonymous SNV	exon3	c.C281T	p.S94F	LTFLAVMLIVLNSTLKSFDQFTCNL	LTFLAVMLIVLNFTLKSFDQFTCNL	9.0	1.0	unscreened	-	3881_14:74766255-74766255 G>A_LTFLAVMLIVLNFTLKSFDQFTCNL
4:79385628-79385628 C>T	1.0	3881	MELANOMA	-	-	-	-	FRAS1	ENST00000264895,p.P2307L|uc003hlb.2,p.P2307L|NM_025074,p.P2307L	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlb.2	nonsynonymous SNV	exon49	c.C6920T	p.P2307L	SEVTQTFHITLHPVDDSLPVVQNLG	SEVTQTFHITLHLVDDSLPVVQNLG	6.0	1.0	unscreened	-	3881_4:79385628-79385628 C>T_SEVTQTFHITLHLVDDSLPVVQNLG
11:108180895-108180895 C>T	1.0	3881	MELANOMA	-	-	-	1	ATM	uc001pkg.1,p.S281L|NM_000051,p.S1924L|uc001pke.2,p.S576L|ENST00000452508,p.S1924L|uc009yxr.1,p.S1924L|ENST00000278616,p.S1924L|uc001pkb.1,p.S1924L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yxr.1	nonsynonymous SNV	exon40	c.C5771T	p.S1924L	VVDYMRRQKRPSSGTIFNDAFWLDL	VVDYMRRQKRPSLGTIFNDAFWLDL	10.0	3.0	unscreened	-	3881_11:108180895-108180895 C>T_VVDYMRRQKRPSLGTIFNDAFWLDL
12:15784558-15784558 G>A	1.0	3881	MELANOMA	-	-	-	-	EPS8	uc001rdb.3,p.P621L|uc009zig.3,p.P361L|ENST00000540613,p.P361L|ENST00000281172,p.P621L|ENST00000543523,p.P621L|ENST00000543612,p.P621L|ENST00000542903,p.P361L|NM_004447,p.P621L|uc009zif.3,p.P621L|uc010shv.2,p.P361L	retained_intron, protein_coding, nonsense_mediated_decay	uc010shv.2	nonsynonymous SNV	exon11	c.C1082T	p.P361L	QRMEYGPRPADTPPAPSPPPTPAPV	QRMEYGPRPADTLPAPSPPPTPAPV	10.0	6.0	unscreened	-	3881_12:15784558-15784558 G>A_QRMEYGPRPADTLPAPSPPPTPAPV
16:2814629-2814629 C>T	1.0	3881	MELANOMA	-	-	-	-	SRRM2	NM_016333,p.P1367L|uc002crk.3,p.P1367L|uc002crl.1,p.P1367L|uc002crj.1,p.P1271L|ENST00000301740,p.P1367L|uc010bsu.1,p.P1271L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bsu.1	nonsynonymous SNV	exon10	c.C3812T	p.P1271L	LNGPFLNQLETDPSLDMKEQSTRSS	LNGPFLNQLETDLSLDMKEQSTRSS	10.0	7.0	unscreened	-	3881_16:2814629-2814629 C>T_LNGPFLNQLETDLSLDMKEQSTRSS
2:209104638-209104638 G>A	1.0	3881	MELANOMA	-	-	-	1	IDH1	uc002vcu.3,p.R314C|NM_005896,p.R314C|NM_001282386,p.R314C|ENST00000446179,p.R314C|ENST00000415913,p.R314C|NM_001282387,p.R314C|uc002vct.3,p.R314C|uc002vcs.3,p.R314C|ENST00000345146,p.R314C	retained_intron, protein_coding	uc002vcu.3	nonsynonymous SNV	exon8	c.C940T	p.R314C	TVEAEAAHGTVTRHYRMYQKGQETS	TVEAEAAHGTVTCHYRMYQKGQETS	9.0	2.0	unscreened	-	3881_2:209104638-209104638 G>A_TVEAEAAHGTVTCHYRMYQKGQETS
6:43152482-43152482 C>T	1.0	3881	MELANOMA	-	-	-	-	CUL9	uc003ouj.1,p.T145I|ENST00000372647,p.T145I|ENST00000252050,p.T145I|ENST00000354495,p.T145I|uc003ouk.3,p.T145I|NM_015089,p.T145I|uc003oul.3,p.T145I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003oul.3	nonsynonymous SNV	exon2	c.C434T	p.T145I	SGTPSLTAAVLHTIHVLSAYASIGP	SGTPSLTAAVLHIIHVLSAYASIGP	8.0	10.0	-	-	3881_6:43152482-43152482 C>T_SGTPSLTAAVLHIIHVLSAYASIGP
8:67488543-67488543 G>A	1.0	3881	MELANOMA	-	-	-	-	MYBL1	ENST00000522677,p.S390F|uc003xwl.3,p.S390F|NM_001080416,p.S390F|ENST00000524176,p.S390F|NM_001144755,p.S390F|NM_001294282,p.S389F|uc003xwj.3,p.S390F|uc003xwk.3,p.S389F	retained_intron, protein_coding, processed_transcript	uc003xwl.3	nonsynonymous SNV	exon10	c.C1169T	p.S390F	FDISDAAASPIKSTPVKLMRIQHNE	FDISDAAASPIKFTPVKLMRIQHNE	9.0	5.0	unscreened	-	3881_8:67488543-67488543 G>A_FDISDAAASPIKFTPVKLMRIQHNE
7:102724147-102724147 C>T	1.0	3881	MELANOMA	-	-	-	-	ARMC10	uc003vax.2,p.S53L|uc003vbb.2,p.S53L|NM_001161013,p.S53L|uc010lis.2,p.S53L|ENST00000541300,p.S53L|NM_001161009,p.S53L|uc011kli.2,p.S53L|NM_001161012,p.S53L|ENST00000425331,p.S53L|ENST00000454559,p.S53L|NM_001161011,p.S53L|ENST00000441711,p.S53L	retained_intron, protein_coding, nonsense_mediated_decay	uc011kli.2	nonsynonymous SNV	exon2	c.C158T	p.S53L	RSSKSAEDLTDGSYDDVLNAEQLQK	RSSKSAEDLTDGLYDDVLNAEQLQK	7.0	3.0	unscreened	-	3881_7:102724147-102724147 C>T_RSSKSAEDLTDGLYDDVLNAEQLQK
7:102724147-102724147 C>T	1.0	3881	MELANOMA	-	-	-	-	ARMC10	ENST00000323735,p.S88L|NM_031905,p.S88L|ENST00000434153,p.S88L|uc003vaw.2,p.S88L|ENST00000428183,p.S88L|uc003vay.2,p.S88L|ENST00000323716,p.S88L|NM_001161010,p.S88L	retained_intron, protein_coding, nonsense_mediated_decay	uc003vay.2	nonsynonymous SNV	exon3	c.C263T	p.S88L	SKTSQPEDLTDGSYDDVLNAEQLQK	SKTSQPEDLTDGLYDDVLNAEQLQK	7.0	3.0	unscreened	-	3881_7:102724147-102724147 C>T_SKTSQPEDLTDGLYDDVLNAEQLQK
5:36117895-36117895 G>A	1.0	3881	MELANOMA	-	-	-	-	LMBRD2	ENST00000296603,p.S415F|uc003jkb.1,p.S415F|NM_001007527,p.S415F	retained_intron, protein_coding	uc003jkb.1	nonsynonymous SNV	exon10	c.C1244T	p.S415F	SECTFFSTTPVLSLFAVFIQLAEKT	SECTFFSTTPVLFLFAVFIQLAEKT	6.0	4.0	unscreened	-	3881_5:36117895-36117895 G>A_SECTFFSTTPVLFLFAVFIQLAEKT
12:31613138-31613138 A>C	1.0	3881	MELANOMA	-	-	-	-	DENND5B	ENST00000546299,p.L313R|uc001rkk.1,p.L283R|ENST00000536562,p.L396R|ENST00000306833,p.L396R|NM_144973,p.L361R|uc001rkj.3,p.L383R|ENST00000389082,p.L361R|ENST00000354285,p.L383R|uc001rkh.1,p.L396R|uc001rki.1,p.L361R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rkk.1	nonsynonymous SNV	exon3	c.T848G	p.L283R	QSKEGTDRSKLELPQEANLCFVDID	QSKEGTDRSKLERPQEANLCFVDID	8.0	5.0	unscreened	-	3881_12:31613138-31613138 A>C_QSKEGTDRSKLERPQEANLCFVDID
19:11453580-11453580 G>A	1.0	3881	MELANOMA	-	-	-	-	TMEM205	ENST00000592952,p.P106L	retained_intron, protein_coding	ENST00000592952	nonsynonymous SNV	exon3	c.C317T	p.P106L	QVQCSPPEFLPLPWAVLSLQSGLRP	QVQCSPPEFLPLLWAVLSLQSGLRP	9.0	8.0	unscreened	-	3881_19:11453580-11453580 G>A_QVQCSPPEFLPLLWAVLSLQSGLRP
6:32974597-32974597 T>-	1.0	3881	MELANOMA	-	-	-	-	HLA-DOA	uc010juj.3,p.N182fs|ENST00000450833,p.N182fs	retained_intron, protein_coding, processed_transcript	uc010juj.3	frameshift deletion	exon4	c.545delA	p.N182fs	LLRHWGNDPSERNDLWETPCRSSWV	LLRHWGNDPSERMTCGRHPADPHGFVTAPACSVPF	9.0	5.0	unscreened	-	3881_6:32974597-32974597 T>-_LLRHWGNDPSERMTCGRHPADPHGFVTAPACSVPF
19:34791599-34791599 C>T	1.0	3881	MELANOMA	-	-	-	-	KIAA0355	uc002nvd.4,p.A74V|NM_014686,p.A74V|ENST00000299505,p.A74V|uc010edk.1,p.A64V	retained_intron, protein_coding, processed_transcript	uc010edk.1	nonsynonymous SNV	exon2	c.C191T	p.A64V	SCHHAMPHTTPIADIQQGISKYLDA	SCHHAMPHTTPIVDIQQGISKYLDA	8.0	5.0	unscreened	-	3881_19:34791599-34791599 C>T_SCHHAMPHTTPIVDIQQGISKYLDA
1:112999235-112999235 C>T	1.0	3881	MELANOMA	-	-	-	-	CTTNBP2NL	NM_018704,p.P374L|ENST00000271277,p.P374L|uc001ebx.3,p.P374L	protein_coding, processed_transcript	uc001ebx.3	nonsynonymous SNV	exon6	c.C1121T	p.P374L	LTAGNNVENQVPPREKSVALAQEKP	LTAGNNVENQVPLREKSVALAQEKP	9.0	7.0	unscreened	-	3881_1:112999235-112999235 C>T_LTAGNNVENQVPLREKSVALAQEKP
7:98515168-98515168 C>T	1.0	3881	MELANOMA	-	-	-	1	TRRAP	NM_003496,p.P830S|NM_001244580,p.P830S|ENST00000446306,p.P829S|uc003upr.3,p.P522S|uc003upp.3,p.P830S|ENST00000359863,p.P830S|ENST00000355540,p.P830S|uc011kis.2,p.P830S	retained_intron, protein_coding	uc011kis.2	nonsynonymous SNV	exon20	c.C2488T	p.P830S	SSLLPYLPMLMDPLVSALNGSQTLV	SSLLPYLPMLMDSLVSALNGSQTLV	8.0	6.0	unscreened	-	3881_7:98515168-98515168 C>T_SSLLPYLPMLMDSLVSALNGSQTLV
11:117261570-117261570 C>T	1.0	3881	MELANOMA	-	-	-	-	CEP164	NM_001271933,p.S674F|ENST00000278935,p.S671F|uc001prb.4,p.S674F|uc001prg.1,p.S104F|NM_014956,p.S671F|uc001prc.3,p.S671F|uc010rxk.1,p.S645F	retained_intron, protein_coding, processed_transcript	uc010rxk.1	nonsynonymous SNV	exon14	c.C1934T	p.S645F	EARMREEESQRLSWLRAQVQSSTQA	EARMREEESQRLFWLRAQVQSSTQA	8.0	9.0	-	-	3881_11:117261570-117261570 C>T_EARMREEESQRLFWLRAQVQSSTQA
2:207176145-207176145 C>T	1.0	3881	MELANOMA	-	-	-	-	ZDBF2	uc031rqy.1,p.S2296F|NM_001285549,p.S2296F|ENST00000374423,p.S2298F|uc002vbp.2,p.S2298F|NM_020923,p.S2298F	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.C6887T	p.S2296F	MANPPPKRPVRASCRVARRRKKTDE	MANPPPKRPVRAFCRVARRRKKTDE	6.0	3.0	unscreened	-	3881_2:207176145-207176145 C>T_MANPPPKRPVRAFCRVARRRKKTDE
4:187629805-187629805 G>A	1.0	3881	MELANOMA	-	-	-	1	FAT1	NM_005245,p.P393S|ENST00000441802,p.P393S|uc003izf.3,p.P393S|ENST00000509647,p.P393S|uc010iso.1,p.P393S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iso.1	nonsynonymous SNV	exon2	c.C1177T	p.P393S	PPNTPVVMVKAIPAYSHLRYVFKST	PPNTPVVMVKAISAYSHLRYVFKST	10.0	1.0	unscreened	-	3881_4:187629805-187629805 G>A_PPNTPVVMVKAISAYSHLRYVFKST
2:207651563-207651563 C>T	1.0	3881	MELANOMA	-	-	ID=COSM3425997;OCCURENCE=1(large_intestine)	-	FASTKD2	NM_014929,p.P512S|ENST00000403094,p.P512S|uc002vbw.1,p.P512S|uc002vbu.3,p.P512S|NM_001136193,p.P512S|uc002vbx.3,p.P512S|ENST00000402774,p.P512S|ENST00000236980,p.P512S|uc002vbv.3,p.P512S|NM_001136194,p.P512S	retained_intron, protein_coding	uc002vbx.3	nonsynonymous SNV	exon8	c.C1534T	p.P512S	DAVYSFCLMNYFPLAPFNQLLQKDI	DAVYSFCLMNYFSLAPFNQLLQKDI	7.0	5.0	unscreened	-	3881_2:207651563-207651563 C>T_DAVYSFCLMNYFSLAPFNQLLQKDI
X:106198164-106198164 G>A	1.0	3881	MELANOMA	-	-	-	-	MORC4	NM_024657,p.S555F|ENST00000355610,p.S555F|ENST00000535534,p.S303F|uc004emw.4,p.S303F|NM_001085354,p.S555F|uc004emu.4,p.S555F|uc004emv.4,p.S555F|ENST00000255495,p.S555F	retained_intron, protein_coding	uc004emw.4	nonsynonymous SNV	exon13	c.C908T	p.S303F	SRSPSLQLKPLDSSVLQFSSKYKWI	SRSPSLQLKPLDFSVLQFSSKYKWI	7.0	8.0	unscreened	-	3881_X:106198164-106198164 G>A_SRSPSLQLKPLDFSVLQFSSKYKWI
19:11453580-11453580 G>A	1.0	3881	MELANOMA	-	-	-	-	TMEM205	ENST00000588560,p.H161Y|ENST00000587948,p.H161Y|uc002mra.2,p.H161Y|uc002mrb.2,p.H161Y|NM_001145416,p.H161Y|ENST00000589555,p.H161Y|ENST00000354882,p.H161Y|ENST00000586590,p.H161Y|ENST00000593256,p.H161Y|ENST00000586956,p.H161Y|uc002mqz.2,p.H161Y|NM_033408,p.H161Y|ENST00000586701,p.H100Y|ENST00000447337,p.H161Y|NM_198536,p.H161Y|ENST00000586218,p.H100Y	retained_intron, protein_coding	uc002mrb.2	nonsynonymous SNV	exon4	c.C481T	p.H161Y	KYSALRQNFFRYHGLSSLCNLGCVL	KYSALRQNFFRYYGLSSLCNLGCVL	9.0	8.0	-	-	3881_19:11453580-11453580 G>A_KYSALRQNFFRYYGLSSLCNLGCVL
11:108180895-108180895 C>T	1.0	3881	MELANOMA	-	-	-	1	ATM	uc009yxt.1,p.S38L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yxt.1	nonsynonymous SNV	exon2	c.C113T	p.S38L	IHNPCKLGFRPSSGTIFNDAFWLDL	IHNPCKLGFRPSLGTIFNDAFWLDL	10.0	3.0	unscreened	-	3881_11:108180895-108180895 C>T_IHNPCKLGFRPSLGTIFNDAFWLDL
2:230724087-230724087 G>A	1.0	3881	MELANOMA	-	-	-	-	TRIP12	ENST00000389044,p.P143L|uc002vpx.1,p.P143L|ENST00000430954,p.P143L|NM_001284214,p.P143L|NM_004238,p.P101L|ENST00000435716,p.P101L|ENST00000428959,p.P101L|ENST00000283943,p.P101L|NM_001284215,p.P101L|ENST00000543084,p.P143L|uc010fxh.1,p.P101L|ENST00000409677,p.P143L|uc021vxw.1,p.P101L|uc002vpw.1,p.P101L	retained_intron, protein_coding	uc021vxw.1	nonsynonymous SNV	exon2	c.C302T	p.P101L	AKKPKALQHTESPSETNKPHSKSKK	AKKPKALQHTESLSETNKPHSKSKK	10.0	2.0	unscreened	-	3881_2:230724087-230724087 G>A_AKKPKALQHTESLSETNKPHSKSKK
17:19282422-19282422 C>T	1.0	3881	MELANOMA	-	-	-	-	MAPK7	ENST00000581260,p.S70F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000581260	nonsynonymous SNV	exon2	c.C209T	p.S70F	IETIGNGAYGVVSSARRRLTGEL	IETIGNGAYGVVFSARRRLTGEL	8.0	4.0	unscreened	-	3881_17:19282422-19282422 C>T_IETIGNGAYGVVFSARRRLTGEL
20:33345886-33345886 G>A	1.0	3881	MELANOMA	-	-	-	-	NCOA6	uc021wcf.1,p.S222F|ENST00000374796,p.S222F|uc002xav.3,p.S222F|NM_014071,p.S222F|uc021wcd.1,p.S222F|ENST00000359003,p.S222F|uc021wce.1,p.S222F|uc002xaw.3,p.S222F|NM_001242539,p.S222F	retained_intron, protein_coding, processed_transcript	uc021wcf.1	nonsynonymous SNV	exon5	c.C665T	p.S222F	PASQSDAMDPLLSGLHIQQQSHPSG	PASQSDAMDPLLFGLHIQQQSHPSG	7.0	4.0	unscreened	-	3881_20:33345886-33345886 G>A_PASQSDAMDPLLFGLHIQQQSHPSG
7:121698859-121698859 T>A	1.0	3881	MELANOMA	-	-	-	-	PTPRZ1	NM_001206839,p.D1311E|uc003vjy.3,p.D2178E|uc011knt.2,p.D1318E|NM_002851,p.D2178E|uc003vjz.3,p.D1311E|ENST00000393386,p.D2178E|ENST00000449182,p.D1311E|NM_001206838,p.D1318E	retained_intron, protein_coding, processed_transcript	uc011knt.2	nonsynonymous SNV	exon28	c.T3954A	p.D1318E	IIQDFILEATQDDYVLEVRHFQCPK	IIQDFILEATQDEYVLEVRHFQCPK	8.0	9.0	-	-	3881_7:121698859-121698859 T>A_IIQDFILEATQDEYVLEVRHFQCPK
12:67696207-67696207 C>T	1.0	3881	MELANOMA	-	-	-	-	CAND1	uc001stn.2,p.P369S|ENST00000540319,p.P251S|ENST00000545606,p.P369S|NM_018448,p.P369S|ENST00000544619,p.P77S|uc001sto.2,p.P47S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sto.2	nonsynonymous SNV	exon2	c.C139T	p.P47S	LDAVVSTRHEMLPEFYKTVSPALIS	LDAVVSTRHEMLSEFYKTVSPALIS	9.0	8.0	unscreened	-	3881_12:67696207-67696207 C>T_LDAVVSTRHEMLSEFYKTVSPALIS
10:121668638-121668638 C>T	1.0	3881	MELANOMA	-	-	-	-	SEC23IP	ENST00000543134,p.P185L|uc001leu.2,p.P396L|NM_007190,p.P396L|ENST00000369075,p.P396L|uc010qtc.2,p.P185L	protein_coding, processed_transcript	uc010qtc.2	nonsynonymous SNV	exon4	c.C554T	p.P185L	EFPSGETIVMHNPKVIVQFQPSSVP	EFPSGETIVMHNLKVIVQFQPSSVP	10.0	7.0	unscreened	-	3881_10:121668638-121668638 C>T_EFPSGETIVMHNLKVIVQFQPSSVP
20:33345886-33345886 G>A	1.0	3881	MELANOMA	-	-	-	-	NCOA6	uc010gew.1,p.S179F	retained_intron, protein_coding, processed_transcript	uc010gew.1	nonsynonymous SNV	exon5	c.C536T	p.S179F	MASGPDAMDPLLSGLHIQQQSHPSG	MASGPDAMDPLLFGLHIQQQSHPSG	7.0	4.0	unscreened	-	3881_20:33345886-33345886 G>A_MASGPDAMDPLLFGLHIQQQSHPSG
17:40452821-40452821 C>T	1.0	3881	MELANOMA	-	-	-	-	STAT5A	NM_001288719,p.P278S|NM_001288720,p.P308S|ENST00000590949,p.P308S|NM_001288718,p.P308S|uc010cyb.2,p.P308S|ENST00000546010,p.P278S|uc010cyc.2,p.P278S|uc002hzj.2,p.P308S|ENST00000588868,p.P308S|ENST00000345506,p.P308S|ENST00000452307,p.P308S|uc010cya.2,p.P308S|NM_003152,p.P308S	retained_intron, protein_coding	uc010cyc.2	nonsynonymous SNV	exon7	c.C832T	p.P278S	AEHLCQQLPIPGPVEEMLAEVNATI	AEHLCQQLPIPGSVEEMLAEVNATI	10.0	5.0	unscreened	-	3881_17:40452821-40452821 C>T_AEHLCQQLPIPGSVEEMLAEVNATI
12:125441636-125441636 G>A	1.0	3881	MELANOMA	-	-	-	-	DHX37	ENST00000544745,p.L522F|uc001ugy.3,p.L735F|ENST00000308736,p.L735F|NM_032656,p.L735F	retained_intron, protein_coding	uc001ugy.3	nonsynonymous SNV	exon17	c.C2203T	p.L735F	FPFPTPPSVEALLAAEELLIALGAL	FPFPTPPSVEALFAAEELLIALGAL	7.0	6.0	unscreened	-	3881_12:125441636-125441636 G>A_FPFPTPPSVEALFAAEELLIALGAL
17:19282422-19282422 C>T	1.0	3881	MELANOMA	-	-	-	-	MAPK7	ENST00000395602,p.S70F|ENST00000603493,p.S70F|uc002gvq.3,p.S70F|NM_002749,p.S70F|NM_139034,p.S70F|uc002gvp.3,p.S70F|ENST00000579284,p.S70F|ENST00000443215,p.S70F|ENST00000395604,p.S70F|NM_139033,p.S70F|ENST00000308406,p.S70F|uc002gvn.3,p.S70F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gvq.3	nonsynonymous SNV	exon2	c.C209T	p.S70F	IETIGNGAYGVVSSARRRLTGQQVA	IETIGNGAYGVVFSARRRLTGQQVA	8.0	4.0	unscreened	-	3881_17:19282422-19282422 C>T_IETIGNGAYGVVFSARRRLTGQQVA
17:17046976-17046976 C>T	1.0	3881	MELANOMA	-	-	-	-	MPRIP	uc002gqv.2,p.S381F|ENST00000395804,p.S381F|uc002gqu.2,p.S381F|ENST00000395811,p.S381F|NM_201274,p.S381F|NM_015134,p.S381F|ENST00000341712,p.S381F	retained_intron, protein_coding, processed_transcript	uc002gqv.2	nonsynonymous SNV	exon9	c.C1142T	p.S381F	RAKSLDRRSTEPSVTPDLLNFKKGW	RAKSLDRRSTEPFVTPDLLNFKKGW	10.0	4.0	unscreened	-	3881_17:17046976-17046976 C>T_RAKSLDRRSTEPFVTPDLLNFKKGW
1:90400638-90400638 C>T	1.0	3881	MELANOMA	-	-	ID=COSM2259254;OCCURENCE=1(large_intestine)	-	LRRC8D	ENST00000337338,p.R671C|uc021opq.1,p.R671C|uc001dnn.3,p.R671C|NM_001134479,p.R671C|uc001dnm.3,p.R671C|ENST00000394593,p.R671C|NM_018103,p.R671C	protein_coding	uc021opq.1	nonsynonymous SNV	exon1	c.C2011T	p.R671C	NLQELDLKSNNIRTIEEIISFQHLK	NLQELDLKSNNICTIEEIISFQHLK	9.0	6.0	unscreened	-	3881_1:90400638-90400638 C>T_NLQELDLKSNNICTIEEIISFQHLK
1:179312729-179312729 C>T	1.0	3881	MELANOMA	-	-	-	-	SOAT1	uc010pnk.2,p.P251S|uc001gmm.3,p.P258S|uc010pni.2,p.P251S|uc001gml.3,p.P316S|ENST00000539888,p.P251S|NM_001252512,p.P251S|ENST00000540564,p.P258S|NM_003101,p.P316S|uc010pnj.2,p.P52S|NM_001252511,p.P258S|ENST00000367619,p.P316S|ENST00000535686,p.P52S	protein_coding	uc010pnk.2	nonsynonymous SNV	exon9	c.C751T	p.P251S	PTLIYRDSYPRNPTVRWGYVAMKFA	PTLIYRDSYPRNSTVRWGYVAMKFA	9.0	9.0	-	-	3881_1:179312729-179312729 C>T_PTLIYRDSYPRNSTVRWGYVAMKFA
10:94397047-94397047 C>T	1.0	3881	MELANOMA	-	-	-	-	KIF11	NM_004523,p.S661L|ENST00000260731,p.S661L|uc001kic.3,p.S661L	protein_coding	uc001kic.3	nonsynonymous SNV	exon15	c.C1982T	p.S661L	KINSQLKHIFKTSLTVADKIEDQKK	KINSQLKHIFKTLLTVADKIEDQKK	6.0	10.0	-	-	3881_10:94397047-94397047 C>T_KINSQLKHIFKTLLTVADKIEDQKK
15:48433357-48433357 G>-	1.0	3881	MELANOMA	-	-	-	-	SLC24A5	ENST00000449382,p.A316fs|ENST00000341459,p.A376fs|uc001zwe.3,p.A376fs|NM_205850,p.A376fs|uc010bel.3,p.A316fs	retained_intron, protein_coding	uc010bel.3	frameshift deletion	exon7	c.946delG	p.A316fs	EIPDTVMGLTLLAAGTSIPDTIASV	EIPDTVMGLTLLQQEQAYQTQLQVCWLQEKGKEIWLCLTSWDPMCLICCALVFHGLLKLHL	9.0	9.0	-	-	3881_15:48433357-48433357 G>-_EIPDTVMGLTLLQQEQAYQTQLQVCWLQEKGKEIWLCLTSWDPMCLICCALVFHGLLKLHL
19:14828499-14828499 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF333	NM_001300912,p.P285L|uc002mzn.3,p.P285L|ENST00000536363,p.P176L|uc002mzk.4,p.P176L|ENST00000292530,p.P285L|NM_032433,p.P285L|ENST00000540689,p.P285L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mzn.3	nonsynonymous SNV	exon11	c.C854T	p.P285L	CAEPQCQPQEAIPSQDTFTEILSID	CAEPQCQPQEAILSQDTFTEILSID	9.0	5.0	unscreened	-	3881_19:14828499-14828499 C>T_CAEPQCQPQEAILSQDTFTEILSID
15:35224562-35224562 G>A	1.0	3881	MELANOMA	-	-	-	-	AQR	ENST00000156471,p.S286F|uc001ziv.3,p.S286F|NM_014691,p.S286F|ENST00000543879,p.S286F	retained_intron, protein_coding, nonsense_mediated_decay	uc001ziv.3	nonsynonymous SNV	exon11	c.C857T	p.S286F	LDDSHLLVHCYLSNLVRREEDGHLF	LDDSHLLVHCYLFNLVRREEDGHLF	8.0	1.0	unscreened	-	3881_15:35224562-35224562 G>A_LDDSHLLVHCYLFNLVRREEDGHLF
3:194158048-194158048 G>A	1.0	3881	MELANOMA	-	-	-	-	ATP13A3	uc003ftz.1,p.P370L|ENST00000439040,p.P664L|ENST00000256031,p.P664L|uc003fty.4,p.P664L|NM_024524,p.P664L	retained_intron, protein_coding	uc003ftz.1	nonsynonymous SNV	exon9	c.C1109T	p.P370L	KGAPEAIAGLCKPETVPVDFQNVLE	KGAPEAIAGLCKLETVPVDFQNVLE	8.0	10.0	-	-	3881_3:194158048-194158048 G>A_KGAPEAIAGLCKLETVPVDFQNVLE
1:144868148-144868148 G>A	0.0	3881	MELANOMA	-	-	-	1	PDE4DIP	ENST00000369354,p.S1764F|NM_001198834,p.S1764F|uc021ouh.1,p.S1764F|uc001elv.4,p.S771F|ENST00000369356,p.S1764F|ENST00000369359,p.S1900F|ENST00000530740,p.S1849F|NM_014644,p.S1764F|uc001elw.4,p.S1764F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ouh.1	nonsynonymous SNV	exon33	c.C5291T	p.S1764F	QLGESASTVPPASTATLLSNDLEAD	QLGESASTVPPAFTATLLSNDLEAD	10.0	1.0	unscreened	-	3881_1:144868148-144868148 G>A_QLGESASTVPPAFTATLLSNDLEAD
16:72821718-72821718 G>A	1.0	3881	MELANOMA	-	-	-	1	ZFHX3	uc002fck.3,p.S3486F|ENST00000268489,p.S3486F|uc002fcl.3,p.S2572F|ENST00000397992,p.S2572F|NM_006885,p.S3486F|NM_001164766,p.S2572F	retained_intron, protein_coding	uc002fcl.3	nonsynonymous SNV	exon9	c.C7715T	p.S2572F	FSDEEAARSHLKSLCFFGQSVVNLQ	FSDEEAARSHLKFLCFFGQSVVNLQ	7.0	4.0	unscreened	-	3881_16:72821718-72821718 G>A_FSDEEAARSHLKFLCFFGQSVVNLQ
19:2852686-2852686 C>T	1.0	3881	MELANOMA	-	-	ID=COSM1711600;OCCURENCE=1(skin)	-	ZNF555	uc002lwn.4,p.T207I|ENST00000334241,p.T208I|ENST00000591539,p.T207I|NM_152791,p.T208I|NM_001172775,p.T207I|uc002lwo.3,p.T208I	protein_coding	uc002lwo.3	nonsynonymous SNV	exon4	c.C623T	p.T208I	GERPYVCKLCGKTFPRTSSLNRHVR	GERPYVCKLCGKIFPRTSSLNRHVR	6.0	8.0	unscreened	-	3881_19:2852686-2852686 C>T_GERPYVCKLCGKIFPRTSSLNRHVR
12:45814920-45814920 C>T	1.0	3881	MELANOMA	-	-	-	-	ANO6	NM_001204803,p.P783S|ENST00000441606,p.P744S|uc001roo.3,p.P762S|uc010sld.1,p.P762S|NM_001025356,p.P762S|ENST00000435642,p.P762S|ENST00000320560,p.P762S|uc010slg.2,p.P744S|uc010slf.2,p.P783S|ENST00000423947,p.P783S|NM_001142679,p.P762S|ENST00000425752,p.P762S|NM_001142678,p.P744S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010slg.2	nonsynonymous SNV	exon18	c.C2230T	p.P744S	IPRLVYYWSFSVPPYGDHTSYTMEG	IPRLVYYWSFSVSPYGDHTSYTMEG	9.0	5.0	unscreened	-	3881_12:45814920-45814920 C>T_IPRLVYYWSFSVSPYGDHTSYTMEG
19:54628031-54628031 C>T	1.0	3881	MELANOMA	-	-	-	-	PRPF31	ENST00000391755,p.P284L|ENST00000419967,p.P284L|uc002qdh.2,p.P284L|ENST00000321030,p.P284L|NM_015629,p.P284L|uc021vbi.1,p.P284L|uc010yek.1,p.P284L	retained_intron, protein_coding, processed_transcript	uc021vbi.1	nonsynonymous SNV	exon9	c.C851T	p.P284L	GYIYHSDIVQSLPPDLRRKAARLVA	GYIYHSDIVQSLLPDLRRKAARLVA	9.0	2.0	unscreened	-	3881_19:54628031-54628031 C>T_GYIYHSDIVQSLLPDLRRKAARLVA
13:58208089-58208089 C>T	1.0	3881	MELANOMA	-	-	-	-	PCDH17	ENST00000377918,p.P470L|NM_001040429,p.P470L|uc001vhq.1,p.P470L|uc010aec.1,p.P470L|ENST00000484979,p.P470L	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon1	c.C1409T	p.P470L	FAIKILDENDNPPRFTKGLYVLQVH	FAIKILDENDNPLRFTKGLYVLQVH	5.0	8.0	unscreened	-	3881_13:58208089-58208089 C>T_FAIKILDENDNPLRFTKGLYVLQVH
5:141313896-141313896 C>T	1.0	3881	MELANOMA	-	-	-	-	KIAA0141	uc003lls.3,p.S330L|ENST00000194118,p.S330L|NM_001142603,p.S330L|uc003llt.3,p.S330L|ENST00000432126,p.S330L|NM_014773,p.S330L	retained_intron, protein_coding, processed_transcript	uc003llt.3	nonsynonymous SNV	exon9	c.C989T	p.S330L	RYARCLLRDPASSWNPERQRAVSLL	RYARCLLRDPASLWNPERQRAVSLL	9.0	7.0	unscreened	-	3881_5:141313896-141313896 C>T_RYARCLLRDPASLWNPERQRAVSLL
5:176477728-176477728 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF346	uc011dfs.2,p.P67L|ENST00000506693,p.P67L	retained_intron, protein_coding, nonsense_mediated_decay	uc011dfs.2	nonsynonymous SNV	exon2	c.C200T	p.P67L	GREEALSKRLTNPFLVASTLALHQN	GREEALSKRLTNLFLVASTLALHQN	8.0	3.0	unscreened	-	3881_5:176477728-176477728 C>T_GREEALSKRLTNLFLVASTLALHQN
5:176477728-176477728 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF346	ENST00000511834,p.P181L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000511834	nonsynonymous SNV	exon5	c.C542T	p.P181L	TKVEALSKRLTNPFLVASTLALHQN	TKVEALSKRLTNLFLVASTLALHQN	8.0	3.0	unscreened	-	3881_5:176477728-176477728 C>T_TKVEALSKRLTNLFLVASTLALHQN
1:150469022-150469022 C>T	1.0	3881	MELANOMA	-	-	-	-	TARS2	uc001euq.4,p.S280F|NM_025150,p.S280F|ENST00000369064,p.S280F	protein_coding, processed_transcript	uc001euq.4	nonsynonymous SNV	exon8	c.C839T	p.S280F	GAPETLQRVSGISFPTTELLRVWEA	GAPETLQRVSGIFFPTTELLRVWEA	8.0	2.0	unscreened	-	3881_1:150469022-150469022 C>T_GAPETLQRVSGIFFPTTELLRVWEA
3:120408707-120408707 A>C	1.0	3881	MELANOMA	-	-	-	-	RABL3	ENST00000273375,p.F225C|uc003edx.3,p.F225C|ENST00000483733,p.F201C|NM_173825,p.F225C	protein_coding, processed_transcript, nonsense_mediated_decay	uc003edx.3	nonsynonymous SNV	exon8	c.T674G	p.F225C	GNQIPGFPDRKRFGAGTLKSLHYD	GNQIPGFPDRKRCGAGTLKSLHYD	7.0	2.0	unscreened	-	3881_3:120408707-120408707 A>C_GNQIPGFPDRKRCGAGTLKSLHYD
5:176941942-176941942 G>A	1.0	3881	MELANOMA	-	-	-	-	DDX41	uc003mhn.3,p.P127L|NM_016222,p.P258L|uc003mhp.3,p.P127L|ENST00000507955,p.P258L|uc003mhq.1,p.P38L|ENST00000330503,p.P276L|uc003mho.3,p.P258L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mhq.1	nonsynonymous SNV	exon6	c.C113T	p.P38L	QEKRLPFSKREGPYGLIICPSRELA	QEKRLPFSKREGLYGLIICPSRELA	9.0	6.0	unscreened	-	3881_5:176941942-176941942 G>A_QEKRLPFSKREGLYGLIICPSRELA
2:9515011-9515011 T>A	1.0	3881	MELANOMA	-	-	-	-	ASAP2	uc002qzi.2,p.L562M|ENST00000315273,p.L562M|uc002qzh.2,p.L562M|NM_001135191,p.L562M|NM_003887,p.L562M|ENST00000281419,p.L562M	retained_intron, protein_coding, processed_transcript	uc002qzi.2	nonsynonymous SNV	exon17	c.T1684A	p.L562M	LCEAVKTRDIFGLLQAYADGVDLTE	LCEAVKTRDIFGMLQAYADGVDLTE	7.0	6.0	unscreened	-	3881_2:9515011-9515011 T>A_LCEAVKTRDIFGMLQAYADGVDLTE
X:129063502-129063502 C>T	1.0	3881	MELANOMA	-	-	-	-	UTP14A	uc004euz.3,p.S745L|ENST00000371051,p.S691L|ENST00000394422,p.S745L|ENST00000425117,p.S693L|NM_001166221,p.S693L|uc011muq.2,p.S691L|ENST00000371042,p.S577L|NM_006649,p.S745L|uc011mup.2,p.S693L	protein_coding, processed_transcript	uc011muq.2	nonsynonymous SNV	exon14	c.C2072T	p.S691L	KAEDVGYRSSSRSDLSVIQRNPKRI	KAEDVGYRSSSRLDLSVIQRNPKRI	9.0	1.0	unscreened	-	3881_X:129063502-129063502 C>T_KAEDVGYRSSSRLDLSVIQRNPKRI
2:61610450-61610450 G>A	1.0	3881	MELANOMA	-	-	-	-	USP34	NM_014709,p.P259S|ENST00000398571,p.P259S|uc002sbe.3,p.P259S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sbe.3	nonsynonymous SNV	exon6	c.C775T	p.P259S	TVVSNIRIWLHIPAVMQHIIPFRTY	TVVSNIRIWLHISAVMQHIIPFRTY	8.0	2.0	unscreened	-	3881_2:61610450-61610450 G>A_TVVSNIRIWLHISAVMQHIIPFRTY
5:88047740-88047740 G>A	1.0	3881	MELANOMA	-	-	-	-	MEF2C	ENST00000506554,p.P175S|ENST00000504921,p.P175S|NM_001193350,p.P175S|ENST00000340208,p.P193S|ENST00000508569,p.P175S|uc003kji.2,p.P175S|NM_002397,p.P175S|ENST00000513252,p.P173S|ENST00000539796,p.P127S|uc003kjm.3,p.P173S|NM_001131005,p.P173S|ENST00000437473,p.P175S|ENST00000514028,p.P175S|ENST00000506716,p.P173S|ENST00000510942,p.P175S|ENST00000514015,p.P175S|NM_001193347,p.P193S|uc003kjk.3,p.P175S|NM_001193349,p.P127S|uc021ybg.1,p.P127S|NM_001193348,p.P127S|ENST00000424173,p.P173S|uc021ybh.1,p.P127S|uc003kjl.3,p.P193S|uc003kjj.3,p.P175S	retained_intron, protein_coding, processed_transcript	uc021ybh.1	nonsynonymous SNV	exon3	c.C379T	p.P127S	SLGNPNLLPLAHPSLQRNSMSPGVT	SLGNPNLLPLAHSSLQRNSMSPGVT	10.0	6.0	unscreened	-	3881_5:88047740-88047740 G>A_SLGNPNLLPLAHSSLQRNSMSPGVT
3:38167152-38167152 G>A	1.0	3881	MELANOMA	-	-	-	-	ACAA1	ENST00000301810,p.P275L|NM_001130410,p.P275L|ENST00000450296,p.P327L|ENST00000333167,p.P368L|uc003cht.3,p.P368L|uc003chu.3,p.P275L|NM_001607,p.P368L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003chu.3	nonsynonymous SNV	exon9	c.C824T	p.P275L	VEKLRLPPEKVNPLGGAVALGHPLG	VEKLRLPPEKVNLLGGAVALGHPLG	8.0	8.0	unscreened	-	3881_3:38167152-38167152 G>A_VEKLRLPPEKVNLLGGAVALGHPLG
3:184040932-184040932 C>T	1.0	3881	MELANOMA	-	-	-	-	EIF4G1	uc010hxy.3,p.P671L|ENST00000411531,p.P624L|ENST00000352767,p.P671L|ENST00000450424,p.P664L|uc010hxw.2,p.P500L|ENST00000414031,p.P624L|uc003fnp.3,p.P664L|uc003fnt.3,p.P375L|uc003fnv.4,p.P664L|ENST00000427845,p.P577L|uc003fnw.3,p.P671L|uc003fno.2,p.P605L|ENST00000426123,p.P605L|ENST00000319274,p.P664L|ENST00000444861,p.P500L|ENST00000435046,p.P468L|ENST00000434061,p.P468L|ENST00000392537,p.P577L|ENST00000346169,p.P664L|uc003fnq.3,p.P577L|NM_198242,p.P500L|NM_001291157,p.P624L|NM_182917,p.P664L|ENST00000424196,p.P671L|ENST00000421110,p.P671L|NM_001194947,p.P671L|uc003fns.3,p.P624L|uc010hxx.3,p.P671L|NM_004953,p.P468L|ENST00000382330,p.P671L|NM_198241,p.P664L|NM_001194946,p.P671L|ENST00000441154,p.P500L|uc003fnr.3,p.P500L|ENST00000350481,p.P500L|ENST00000342981,p.P664L|uc003fnx.3,p.P468L|NM_198244,p.P577L	retained_intron, protein_coding, nonsense_mediated_decay	uc010hxy.3	nonsynonymous SNV	exon14	c.C2012T	p.P671L	LDPTRLQGINCGPDFTPSFANLGRT	LDPTRLQGINCGLDFTPSFANLGRT	10.0	2.0	unscreened	-	3881_3:184040932-184040932 C>T_LDPTRLQGINCGLDFTPSFANLGRT
3:197260397-197260397 G>A	1.0	3881	MELANOMA	-	-	-	-	BDH1	ENST00000392379,p.P40L|NM_004051,p.P40L|ENST00000432819,p.P40L|ENST00000392378,p.P40L|uc003fxu.3,p.P40L|uc003fxs.3,p.P40L|ENST00000434143,p.P21L|uc003fxr.3,p.P40L|NM_203314,p.P40L|ENST00000431056,p.P40L|NM_203315,p.P40L|ENST00000358186,p.P40L	retained_intron, protein_coding, processed_transcript	uc003fxu.3	nonsynonymous SNV	exon3	c.C119T	p.P40L	RRPLLLGSTSFIPIGRRTYASAAEP	RRPLLLGSTSFILIGRRTYASAAEP	8.0	3.0	unscreened	-	3881_3:197260397-197260397 G>A_RRPLLLGSTSFILIGRRTYASAAEP
2:209104640-209104640 G>A	1.0	3881	MELANOMA	-	-	-	1	IDH1	uc002vcs.3,p.T313I|ENST00000345146,p.T313I|NM_005896,p.T313I|NM_001282387,p.T313I|NM_001282386,p.T313I|ENST00000446179,p.T313I|ENST00000415913,p.T313I|uc002vct.3,p.T313I|uc002vcu.3,p.T313I	retained_intron, protein_coding	uc002vcu.3	nonsynonymous SNV	exon8	c.C938T	p.T313I	KTVEAEAAHGTVTRHYRMYQKGQET	KTVEAEAAHGTVIRHYRMYQKGQET	9.0	2.0	unscreened	-	3881_2:209104640-209104640 G>A_KTVEAEAAHGTVIRHYRMYQKGQET
5:73072358-73072358 C>T	0.0	3881	MELANOMA	-	-	-	-	ARHGEF28	uc010izf.3,p.S226F|NM_001177693,p.S226F|uc011csq.2,p.S226F|ENST00000437974,p.S226F|ENST00000426542,p.S226F|uc021yam.1,p.S226F|ENST00000287898,p.S226F|ENST00000296794,p.S226F|ENST00000513042,p.S226F|NM_001080479,p.S226F|uc003kcy.1,p.S226F|ENST00000545377,p.S226F	retained_intron, protein_coding, processed_transcript	uc021yam.1	nonsynonymous SNV	exon5	c.C677T	p.S226F	LVEDVTNFQGRWSPSFSRVQLSEEA	LVEDVTNFQGRWFPSFSRVQLSEEA	9.0	5.0	unscreened	-	3881_5:73072358-73072358 C>T_LVEDVTNFQGRWFPSFSRVQLSEEA
21:47731469-47731469 G>A	1.0	3881	MELANOMA	-	-	-	-	C21orf58	ENST00000417060,p.P170S|ENST00000397683,p.P102S|uc002zjf.3,p.P208S|NM_001286476,p.P102S|NM_001286463,p.P102S|ENST00000397682,p.P102S|NM_001286462,p.P102S|uc002zjc.3,p.P102S|uc002ziz.3,p.P125S|NM_058180,p.P208S|ENST00000397680,p.P102S|ENST00000291691,p.P208S|ENST00000491666,p.P170S|ENST00000397679,p.P102S|uc002zja.3,p.P102S|NM_001286477,p.P102S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002zjf.3	nonsynonymous SNV	exon6	c.C622T	p.P208S	PPRIILPTVPQPPATIIQQLPQQPL	PPRIILPTVPQPSATIIQQLPQQPL	6.0	5.0	unscreened	-	3881_21:47731469-47731469 G>A_PPRIILPTVPQPSATIIQQLPQQPL
11:65651878-65651878 G>A	1.0	3881	MELANOMA	-	-	-	-	FIBP	uc001ogd.3,p.S337F|uc001oge.3,p.S330F|NM_198897,p.S337F|ENST00000338369,p.S337F|NM_004214,p.S330F|ENST00000357519,p.S330F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001oge.3	nonsynonymous SNV	exon9	c.C989T	p.S330F	RFFLNQYSASVHSLDGFRHQALWDR	RFFLNQYSASVHFLDGFRHQALWDR	8.0	4.0	unscreened	-	3881_11:65651878-65651878 G>A_RFFLNQYSASVHFLDGFRHQALWDR
15:72119294-72119294 G>A	1.0	3881	MELANOMA	-	-	-	-	MYO9A	uc002atl.5,p.S2425F|ENST00000444904,p.S2406F|NM_006901,p.S2425F|uc002atk.3,p.S1220F|ENST00000356056,p.S2425F|ENST00000424560,p.S2496F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002atl.5	nonsynonymous SNV	exon42	c.C7274T	p.S2425F	SKLRKQLKKQQDSLDVVDSSVSSLC	SKLRKQLKKQQDFLDVVDSSVSSLC	7.0	2.0	unscreened	-	3881_15:72119294-72119294 G>A_SKLRKQLKKQQDFLDVVDSSVSSLC
1:59132765-59132765 G>A	1.0	3881	MELANOMA	-	-	-	-	MYSM1	uc009wab.2,p.P659L|NM_001085487,p.P659L|ENST00000472487,p.P659L|uc001cza.3,p.P65L	protein_coding, processed_transcript	uc009wab.2	nonsynonymous SNV	exon16	c.C1976T	p.P659L	RGFSVIGWYHSHPAFDPNPSLRDID	RGFSVIGWYHSHLAFDPNPSLRDID	10.0	3.0	unscreened	-	3881_1:59132765-59132765 G>A_RGFSVIGWYHSHLAFDPNPSLRDID
1:169347757-169347757 C>T	1.0	3881	MELANOMA	-	-	-	-	BLZF1	ENST00000426663,p.L220F|ENST00000329281,p.L220F|uc001gfx.2,p.L220F|uc001gfy.3,p.L220F|NM_003666,p.L220F|uc009wvp.1,p.L197F|ENST00000367808,p.L220F	protein_coding	uc009wvp.1	nonsynonymous SNV	exon2	c.C589T	p.L197F	MSIQCDVWRSKFLASRVMADELTNS	MSIQCDVWRSKFFASRVMADELTNS	8.0	10.0	-	-	3881_1:169347757-169347757 C>T_MSIQCDVWRSKFFASRVMADELTNS
6:86256893-86256893 G>A	1.0	3881	MELANOMA	-	-	-	-	SNX14	uc003pkr.3,p.R349C|uc003pkt.3,p.R349C|ENST00000515216,p.R276C|uc003pkp.3,p.R212C|uc003pks.3,p.R305C|ENST00000346348,p.R305C|ENST00000513865,p.R349C|ENST00000369627,p.R349C|NM_020468,p.R305C|ENST00000314673,p.R349C|uc011dzg.2,p.R297C|NM_153816,p.R349C|ENST00000505648,p.R297C|NM_001297614,p.R349C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dzg.2	nonsynonymous SNV	exon12	c.C889T	p.R297C	LKQIREQQDLLFRFMNFLKQEGAVH	LKQIREQQDLLFCFMNFLKQEGAVH	9.0	10.0	-	-	3881_6:86256893-86256893 G>A_LKQIREQQDLLFCFMNFLKQEGAVH
7:21945204-21945204 G>A	1.0	3881	MELANOMA	-	-	-	-	CDCA7L	ENST00000373934,p.R277W|ENST00000406877,p.R323W|uc010kuk.3,p.R323W|NM_001127370,p.R289W|NM_001127371,p.R277W|NM_018719,p.R323W|ENST00000356195,p.R289W|uc003svf.4,p.R322W|uc010kul.3,p.R277W|uc003sve.4,p.R289W	retained_intron, protein_coding, processed_transcript	uc010kul.3	nonsynonymous SNV	exon6	c.C829T	p.R277W	REYRRRHRISSFRPVEDITEEDLEN	REYRRRHRISSFWPVEDITEEDLEN	7.0	6.0	unscreened	-	3881_7:21945204-21945204 G>A_REYRRRHRISSFWPVEDITEEDLEN
15:101550975-101550975 C>T	1.0	3881	MELANOMA	-	-	-	-	LRRK1	ENST00000284395,p.S402F|ENST00000531270,p.S405F|NM_024652,p.S405F|ENST00000388948,p.S405F|ENST00000525284,p.S405F|uc002bwr.3,p.S405F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bwr.3	nonsynonymous SNV	exon9	c.C1214T	p.S405F	TELPALFLHSFKSLNSLNVSRNNLK	TELPALFLHSFKFLNSLNVSRNNLK	6.0	9.0	-	-	3881_15:101550975-101550975 C>T_TELPALFLHSFKFLNSLNVSRNNLK
7:82582416-82582416 G>A	1.0	3881	MELANOMA	-	-	-	-	PCLO	NM_033026,p.P2618L|ENST00000423517,p.P2618L|uc003uhx.2,p.P2618L|NM_014510,p.P2618L|uc003uhv.2,p.P2618L|ENST00000333891,p.P2618L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.C7853T	p.P2618L	LGSPSKDLVSVEPVFSVVPPVTAVE	LGSPSKDLVSVELVFSVVPPVTAVE	6.0	4.0	unscreened	-	3881_7:82582416-82582416 G>A_LGSPSKDLVSVELVFSVVPPVTAVE
14:92480577-92480577 G>T	1.0	3881	MELANOMA	-	-	-	1	TRIP11	uc010auf.2,p.L155I|ENST00000267622,p.L390I|uc001xzy.3,p.L390I|NM_004239,p.L390I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010auf.2	nonsynonymous SNV	exon2	c.C463A	p.L155I	LAQSASVEEVFRLQQALSDAENEIM	LAQSASVEEVFRIQQALSDAENEIM	9.0	3.0	unscreened	-	3881_14:92480577-92480577 G>T_LAQSASVEEVFRIQQALSDAENEIM
22:50942274-50942274 G>A	1.0	3881	MELANOMA	-	-	-	-	LMF2	NM_033200,p.P593L|ENST00000474879,p.P593L|uc003blp.2,p.P593L|ENST00000380796,p.P480L|uc003blo.2,p.P568L|ENST00000216080,p.P568L	retained_intron, protein_coding, processed_transcript	uc003blp.2	nonsynonymous SNV	exon13	c.C1778T	p.P593L	VEEFFPSVSLGDPTLETLLRQFGLQ	VEEFFPSVSLGDLTLETLLRQFGLQ	8.0	6.0	unscreened	-	3881_22:50942274-50942274 G>A_VEEFFPSVSLGDLTLETLLRQFGLQ
1:144868148-144868148 G>A	0.0	3881	MELANOMA	-	-	-	1	PDE4DIP	uc001elx.4,p.S1658F|ENST00000313382,p.S1658F|NM_001198832,p.S1658F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001elx.4	nonsynonymous SNV	exon35	c.C4973T	p.S1658F	QAHSGASTVPPASTATLLSNDLEAD	QAHSGASTVPPAFTATLLSNDLEAD	10.0	1.0	unscreened	-	3881_1:144868148-144868148 G>A_QAHSGASTVPPAFTATLLSNDLEAD
16:720335-720335 C>T	1.0	3881	MELANOMA	-	-	-	-	RHOT2	ENST00000315082,p.P139L|NM_138769,p.P139L|ENST00000561929,p.P118L|ENST00000563134,p.P139L|uc002ciq.3,p.P32L|uc002cip.3,p.P139L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ciq.3	nonsynonymous SNV	exon6	c.C95T	p.P32L	SMEAVLPIMSQFPEIETCVECSAKN	SMEAVLPIMSQFLEIETCVECSAKN	9.0	6.0	unscreened	-	3881_16:720335-720335 C>T_SMEAVLPIMSQFLEIETCVECSAKN
2:112740569-112740569 C>T	1.0	3881	MELANOMA	-	-	-	-	MERTK	ENST00000421804,p.S432F|uc002thl.1,p.S256F|NM_006343,p.S432F|uc002thk.1,p.S432F|ENST00000295408,p.S432F|ENST00000409780,p.S256F	retained_intron, protein_coding, nonsense_mediated_decay	uc002thl.1	nonsynonymous SNV	exon8	c.C767T	p.S256F	YRISHVWQSAGISKELLEEVGQNGS	YRISHVWQSAGIFKELLEEVGQNGS	8.0	10.0	-	-	3881_2:112740569-112740569 C>T_YRISHVWQSAGIFKELLEEVGQNGS
1:7890087-7890087 C>T	1.0	3881	MELANOMA	-	-	-	-	PER3	NM_001289861,p.P1008L|ENST00000361923,p.P1018L|NM_016831,p.P1018L|uc010nzw.2,p.P707L|uc001aop.3,p.P1027L|ENST00000377532,p.P1027L|NM_001289864,p.P707L|NM_001289863,p.P1001L|uc009vmg.1,p.P1026L|uc001aoo.3,p.P1018L|uc009vmh.1,p.P1019L|NM_001289862,p.P1027L	retained_intron, protein_coding	uc010nzw.2	nonsynonymous SNV	exon18	c.C2120T	p.P707L	SALSTGSPPMKNPSHPTASTLSMGL	SALSTGSPPMKNLSHPTASTLSMGL	7.0	3.0	unscreened	-	3881_1:7890087-7890087 C>T_SALSTGSPPMKNLSHPTASTLSMGL
4:140297559-140297559 C>T	1.0	3881	MELANOMA	-	-	ID=COSM1051381;OCCURENCE=1(endometrium)	-	NAA15	NM_057175,p.P663L|uc003ihu.1,p.P663L|ENST00000296543,p.P663L|ENST00000398947,p.P663L	retained_intron, protein_coding, processed_transcript	uc003ihu.1	nonsynonymous SNV	exon16	c.C1988T	p.P663L	ETPLEEAIKFLTPLKNLVKNKIETH	ETPLEEAIKFLTLLKNLVKNKIETH	8.0	1.0	unscreened	-	3881_4:140297559-140297559 C>T_ETPLEEAIKFLTLLKNLVKNKIETH
6:88344602-88344602 C>T	1.0	3881	MELANOMA	-	-	-	-	ORC3	ENST00000392844,p.H409Y|NM_181837,p.H409Y|uc003pmg.3,p.H409Y|NM_012381,p.H409Y|ENST00000546266,p.H266Y|uc003pmh.3,p.H409Y|ENST00000417380,p.H356Y|uc011dzm.2,p.H409Y|NM_001197259,p.H266Y|uc011dzp.2,p.H266Y|uc011dzl.2,p.H409Y|ENST00000257789,p.H409Y|uc011dzo.2,p.H266Y	protein_coding, processed_transcript	uc011dzp.2	nonsynonymous SNV	exon11	c.C796T	p.H266Y	ETQLLLENLHVYHMNYFLVLRCLHK	ETQLLLENLHVYYMNYFLVLRCLHK	7.0	10.0	-	-	3881_6:88344602-88344602 C>T_ETQLLLENLHVYYMNYFLVLRCLHK
11:16208436-16208436 A>T	1.0	3881	MELANOMA	-	-	-	-	SOX6	ENST00000396356,p.L201I|NM_001145819,p.L214I|NM_017508,p.L204I|ENST00000528252,p.L201I|NM_001145811,p.L201I|NM_033326,p.L201I|ENST00000316399,p.L201I|ENST00000352083,p.L201I|ENST00000527619,p.L204I|uc001mmg.3,p.L201I|uc001mmf.3,p.L201I|uc001mme.3,p.L214I|ENST00000528429,p.L201I|uc001mmd.3,p.L204I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mmg.3	nonsynonymous SNV	exon5	c.T601A	p.L201I	RQLSTMITQLISLREQLLAAHDEQK	RQLSTMITQLISIREQLLAAHDEQK	10.0	4.0	unscreened	-	3881_11:16208436-16208436 A>T_RQLSTMITQLISIREQLLAAHDEQK
18:50589728-50589728 G>A	1.0	3881	MELANOMA	-	-	-	2	DCC	ENST00000442544,p.D347N|uc002lfe.2,p.D347N|uc010xdr.1,p.D195N|ENST00000412726,p.D195N|NM_005215,p.D347N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdr.1	nonsynonymous SNV	exon6	c.G583A	p.D195N	NHPSNLYAYESMDIEFECTVSGKPV	NHPSNLYAYESMNIEFECTVSGKPV	7.0	7.0	unscreened	-	3881_18:50589728-50589728 G>A_NHPSNLYAYESMNIEFECTVSGKPV
1:93672945-93672945 C>T	1.0	3881	MELANOMA	-	-	-	-	CCDC18	ENST00000401026,p.S400F|ENST00000338949,p.S199F|ENST00000343253,p.S400F|uc021opx.1,p.S400F|ENST00000557479,p.S518F|ENST00000455267,p.S120F|NM_206886,p.S400F|uc009wdl.1,p.S79F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021opx.1	nonsynonymous SNV	exon9	c.C1199T	p.S400F	SRVELRSLEKIISQLPLKRELFGFK	SRVELRSLEKIIFQLPLKRELFGFK	8.0	7.0	unscreened	-	3881_1:93672945-93672945 C>T_SRVELRSLEKIIFQLPLKRELFGFK
X:154299923-154299923 G>A	1.0	3881	MELANOMA	-	-	-	-	BRCC3	uc011mzz.3,p.E41K	protein_coding, nonsense_mediated_decay	uc011mzz.3	nonsynonymous SNV	exon1	c.G121A	p.E41K	TEKEEVMGLCIGELNDDTRLMPSEL	TEKEEVMGLCIGKLNDDTRLMPSEL	8.0	6.0	unscreened	-	3881_X:154299923-154299923 G>A_TEKEEVMGLCIGKLNDDTRLMPSEL
6:105564691-105564691 C>A	1.0	3881	MELANOMA	-	-	-	-	BVES	ENST00000314641,p.R234I|NM_001199563,p.R234I|uc003pqw.3,p.R234I|NM_147147,p.R234I|ENST00000446408,p.R234I|NM_007073,p.R234I|ENST00000336775,p.R234I|uc003pqy.3,p.R234I|uc003pqx.3,p.R234I	protein_coding	uc003pqy.3	nonsynonymous SNV	exon6	c.G701T	p.R234I	DDNCRFLCWSRERLTYFLESEPFLY	DDNCRFLCWSREILTYFLESEPFLY	6.0	10.0	-	-	3881_6:105564691-105564691 C>A_DDNCRFLCWSREILTYFLESEPFLY
15:59323652-59323652 C>T	1.0	3881	MELANOMA	-	-	-	-	RNF111	uc002afs.4,p.P211S|NM_001270528,p.P211S|ENST00000559209,p.P211S|ENST00000557998,p.P211S|uc002afv.4,p.P211S|ENST00000348370,p.P211S|ENST00000434298,p.P211S|uc002afu.4,p.P211S|uc002aft.4,p.P211S|NM_001270529,p.P211S|NM_001270530,p.P211S|uc002afw.4,p.P211S|NM_017610,p.P211S|ENST00000561186,p.P211S	retained_intron, protein_coding, processed_transcript	uc002afw.4	nonsynonymous SNV	exon1	c.C631T	p.P211S	RPCLHGSSLRRLPCRKRFVKNNSSQ	RPCLHGSSLRRLSCRKRFVKNNSSQ	9.0	2.0	unscreened	-	3881_15:59323652-59323652 C>T_RPCLHGSSLRRLSCRKRFVKNNSSQ
1:89650983-89650983 G>A	1.0	3881	MELANOMA	-	-	-	-	GBP4	NM_052941,p.S626F|uc001dnb.3,p.S626F|ENST00000355754,p.S626F	protein_coding, processed_transcript	uc001dnb.3	nonsynonymous SNV	exon11	c.C1877T	p.S626F	ASNIMIVTLPGASKLLGVGTKYLGS	ASNIMIVTLPGAFKLLGVGTKYLGS	10.0	7.0	unscreened	-	3881_1:89650983-89650983 G>A_ASNIMIVTLPGAFKLLGVGTKYLGS
6:30690351-30690351 C>T	1.0	3881	MELANOMA	-	-	-	-	TUBB	NM_001293212,p.P52L|NM_001293213,p.P32L|ENST00000435534,p.P32L|NM_178014,p.P32L|ENST00000396389,p.P14L|uc003nrl.3,p.P32L|ENST00000327892,p.P32L	protein_coding	uc003nrl.3	nonsynonymous SNV	exon2	c.C95T	p.P32L	FWEVISDEHGIDPTGTYHGDSDLQL	FWEVISDEHGIDLTGTYHGDSDLQL	10.0	2.0	unscreened	-	3881_6:30690351-30690351 C>T_FWEVISDEHGIDLTGTYHGDSDLQL
3:108330160-108330160 C>T	1.0	3881	MELANOMA	-	-	-	-	DZIP3	ENST00000361582,p.S81F|ENST00000479138,p.S81F|NM_014648,p.S81F|uc003dxd.3,p.S81F|uc003dxe.1,p.S81F|ENST00000463306,p.S81F|ENST00000495008,p.S81F|uc003dxf.1,p.S81F	protein_coding, nonsense_mediated_decay	uc003dxf.1	nonsynonymous SNV	exon4	c.C242T	p.S81F	VPHIKKFLQEDFSFQTMQREVAANS	VPHIKKFLQEDFFFQTMQREVAANS	7.0	7.0	unscreened	-	3881_3:108330160-108330160 C>T_VPHIKKFLQEDFFFQTMQREVAANS
7:105732264-105732264 G>A	1.0	3881	MELANOMA	-	-	-	-	SYPL1	ENST00000011473,p.P256L|NM_006754,p.P256L|uc003vdp.4,p.P256L|uc003vdo.4,p.P238L|ENST00000455385,p.P238L|NM_182715,p.P238L	retained_intron, protein_coding	uc003vdp.4	nonsynonymous SNV	exon6	c.C767T	p.P256L	TSAPHSQGGIPPPTGI	TSAPHSQGGIPPLTGI	9.0	3.0	unscreened	-	3881_7:105732264-105732264 G>A_TSAPHSQGGIPPLTGI
10:102255279-102255279 G>A	1.0	3881	MELANOMA	-	-	-	-	SEC31B	uc001krc.1,p.R779W|uc001kre.1,p.R316W|uc001krd.1,p.R316W|NM_015490,p.R779W|uc001krf.1,p.R316W|ENST00000370345,p.R779W|uc001krg.1,p.R348W|uc010qpo.1,p.R778W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qpo.1	nonsynonymous SNV	exon18	c.C2332T	p.R778W	DCAQPPVQQLRDRLFHAQGSAVLGQ	DCAQPPVQQLRDWLFHAQGSAVLGQ	9.0	10.0	-	-	3881_10:102255279-102255279 G>A_DCAQPPVQQLRDWLFHAQGSAVLGQ
12:15784526-15784526 G>A	1.0	3881	MELANOMA	-	-	-	-	EPS8	NM_004447,p.P632S|uc009zig.3,p.P372S|ENST00000543523,p.P632S|ENST00000543612,p.P632S|uc010shv.2,p.P372S|uc009zif.3,p.P632S|ENST00000281172,p.P632S|ENST00000540613,p.P372S|ENST00000542903,p.P372S|uc001rdb.3,p.P632S	retained_intron, protein_coding, nonsense_mediated_decay	uc010shv.2	nonsynonymous SNV	exon11	c.C1114T	p.P372S	TPPAPSPPPTPAPVPVPLPPSTPAP	TPPAPSPPPTPASVPVPLPPSTPAP	10.0	5.0	unscreened	-	3881_12:15784526-15784526 G>A_TPPAPSPPPTPASVPVPLPPSTPAP
12:133384783-133384783 G>A	1.0	3881	MELANOMA	-	-	-	-	GOLGA3	uc001ukz.1,p.P291L|ENST00000204726,p.P291L|ENST00000537452,p.P291L|ENST00000545875,p.P291L|NM_005895,p.P291L|NM_001172557,p.P291L|uc001ulb.3,p.P291L|ENST00000450791,p.P291L|ENST00000456883,p.P291L|uc001ula.1,p.P291L	retained_intron, protein_coding, processed_transcript	uc001ulb.3	nonsynonymous SNV	exon5	c.C872T	p.P291L	SAASVVSEISLSPDTDDRLENTSLA	SAASVVSEISLSLDTDDRLENTSLA	9.0	5.0	unscreened	-	3881_12:133384783-133384783 G>A_SAASVVSEISLSLDTDDRLENTSLA
6:121544410-121544410 G>A	1.0	3881	MELANOMA	-	-	ID=COSM1246920;OCCURENCE=1(oesophagus)	-	TBC1D32	NM_152730,p.S818F|uc003pyp.1,p.S337F|ENST00000275159,p.S818F|ENST00000398212,p.S818F|uc003pyo.1,p.S818F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pyp.1	nonsynonymous SNV	exon10	c.C1010T	p.S337F	VRNQDLPNKTEYSLREVPTCVIDII	VRNQDLPNKTEYFLREVPTCVIDII	6.0	10.0	-	-	3881_6:121544410-121544410 G>A_VRNQDLPNKTEYFLREVPTCVIDII
8:144891117-144891117 A>T	1.0	3881	MELANOMA	-	-	-	-	SCRIB	NM_182706,p.W593R|uc003yzo.1,p.W593R|ENST00000320476,p.W593R|ENST00000377533,p.W512R|uc003yzp.1,p.W593R|NM_015356,p.W593R|ENST00000356994,p.W593R	retained_intron, protein_coding, processed_transcript	uc003yzp.1	nonsynonymous SNV	exon15	c.T1777A	p.W593R	DREIEEGQPEAPWTLPGGRQRLIRK	DREIEEGQPEAPRTLPGGRQRLIRK	8.0	6.0	unscreened	-	3881_8:144891117-144891117 A>T_DREIEEGQPEAPRTLPGGRQRLIRK
20:42157991-42157991 A>C	1.0	3881	MELANOMA	-	-	-	-	L3MBTL1	NM_032107,p.I325L|ENST00000373134,p.I257L|uc010zwh.2,p.I325L|ENST00000373135,p.I257L|NM_015478,p.I257L|ENST00000444063,p.I257L|ENST00000427442,p.I325L|ENST00000418998,p.I325L|ENST00000422861,p.I43L|uc002xkn.1,p.I16L|uc010ggl.4,p.I257L|uc002xkl.3,p.I257L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zwh.2	nonsynonymous SNV	exon9	c.A973C	p.I325L	EGIDPQHPSMYFILTVAEVCGYRLR	EGIDPQHPSMYFLLTVAEVCGYRLR	8.0	9.0	-	-	3881_20:42157991-42157991 A>C_EGIDPQHPSMYFLLTVAEVCGYRLR
11:3150335-3150335 G>A	1.0	3881	MELANOMA	-	-	-	-	OSBPL5	uc001lxl.2,p.P15L|ENST00000526122,p.P15L|ENST00000263650,p.P15L|uc001lxk.2,p.P15L|uc009ydw.2,p.P15L|uc009ydx.3,p.P39L|NM_145638,p.P15L|ENST00000533721,p.P15L|NM_001144063,p.P15L|ENST00000471998,p.P15L|ENST00000348039,p.P15L|ENST00000530372,p.P15L|NM_020896,p.P15L|ENST00000534157,p.P15L|ENST00000389989,p.P15L|ENST00000533234,p.P15L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ydx.3	nonsynonymous SNV	exon2	c.C116T	p.P39L	EEAFLRRRFSLCPPSSTPQKVDPRK	EEAFLRRRFSLCLPSSTPQKVDPRK	6.0	5.0	unscreened	-	3881_11:3150335-3150335 G>A_EEAFLRRRFSLCLPSSTPQKVDPRK
8:141678495-141678495 G>A	1.0	3881	MELANOMA	-	-	-	-	PTK2	NM_001199649,p.P926L|uc003yvv.3,p.P816L|uc003yvr.3,p.P856L|uc011ljr.2,p.P926L|ENST00000521986,p.P614L|uc011ljq.2,p.P611L|ENST00000340930,p.P926L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ljr.2	nonsynonymous SNV	exon31	c.C2777T	p.P926L	PWRLQPQEISPPPTANLDRSNDKVY	PWRLQPQEISPPLTANLDRSNDKVY	10.0	5.0	unscreened	-	3881_8:141678495-141678495 G>A_PWRLQPQEISPPLTANLDRSNDKVY
11:61120504-61120504 G>A	1.0	3881	MELANOMA	-	-	-	-	CYB561A3	ENST00000540755,p.H98Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000540755	nonsynonymous SNV	exon4	c.C292T	p.H98Y	PRLFWSRHPLSVHRIRHFGH	PRLFWSRHPLSVYRIRHFGH	8.0	8.0	-	-	3881_11:61120504-61120504 G>A_PRLFWSRHPLSVYRIRHFGH
X:129045770-129045770 C>T	1.0	3881	MELANOMA	-	-	-	-	UTP14A	ENST00000394422,p.T137I|ENST00000371051,p.T83I|uc004euz.3,p.T137I|uc011muq.2,p.T83I|NM_006649,p.T137I	protein_coding, processed_transcript	uc011muq.2	nonsynonymous SNV	exon5	c.C248T	p.T83I	IERIHREVAFNKTAQVLSKWDPVVL	IERIHREVAFNKIAQVLSKWDPVVL	9.0	8.0	unscreened	-	3881_X:129045770-129045770 C>T_IERIHREVAFNKIAQVLSKWDPVVL
13:43500482-43500482 G>A	1.0	3881	MELANOMA	-	-	-	-	EPSTI1	NM_033255,p.S216F|ENST00000313624,p.S216F|uc001uyx.2,p.S216F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uyx.2	nonsynonymous SNV	exon7	c.C647T	p.S216F	RSACQSAVCGPQSSTWARSWAYRDS	RSACQSAVCGPQFSTWARSWAYRDS	9.0	5.0	unscreened	-	3881_13:43500482-43500482 G>A_RSACQSAVCGPQFSTWARSWAYRDS
18:21152093-21152093 G>A	1.0	3881	MELANOMA	-	-	-	-	NPC1	uc002kum.4,p.R78W|ENST00000269228,p.R78W|NM_000271,p.R78W	retained_intron, protein_coding, processed_transcript	uc002kum.4	nonsynonymous SNV	exon3	c.C232T	p.R78W	FFFGNVSLCCDVRQLQTLKDNLQLP	FFFGNVSLCCDVWQLQTLKDNLQLP	9.0	3.0	unscreened	-	3881_18:21152093-21152093 G>A_FFFGNVSLCCDVWQLQTLKDNLQLP
22:21288312-21288312 C>T	1.0	3881	MELANOMA	-	-	-	-	CRKL	uc002ztf.2,p.P186L|NM_005207,p.P186L|ENST00000354336,p.P186L|ENST00000411769,p.P186L	protein_coding, nonsense_mediated_decay	uc002ztf.2	nonsynonymous SNV	exon2	c.C557T	p.P186L	PVPYVEKLVRSSPHGKHGNRNSNSY	PVPYVEKLVRSSLHGKHGNRNSNSY	8.0	7.0	unscreened	-	3881_22:21288312-21288312 C>T_PVPYVEKLVRSSLHGKHGNRNSNSY
1:200613525-200613525 G>A	1.0	3881	MELANOMA	-	-	-	-	DDX59	ENST00000331314,p.P573S|NM_001031725,p.P573S|uc009wzk.3,p.P573S	protein_coding	uc009wzk.3	nonsynonymous SNV	exon8	c.C1717T	p.P573S	AKRVKPTGSILPPQLLNSPYLHDQK	AKRVKPTGSILPSQLLNSPYLHDQK	8.0	4.0	unscreened	-	3881_1:200613525-200613525 G>A_AKRVKPTGSILPSQLLNSPYLHDQK
X:107898651-107898651 G>A	1.0	3881	MELANOMA	-	-	-	-	COL4A5	uc022ccg.2,p.G1113R|NM_000495,p.G1113R|ENST00000361603,p.G1113R|uc004enz.2,p.G1113R|ENST00000328300,p.G1113R	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon37	c.G3337A	p.G1113R	GDPGLPGLPGTPGAKGQPGLPGFPG	GDPGLPGLPGTPRAKGQPGLPGFPG	8.0	8.0	unscreened	-	3881_X:107898651-107898651 G>A_GDPGLPGLPGTPRAKGQPGLPGFPG
16:48576997-48576997 G>A	1.0	3881	MELANOMA	-	-	-	-	N4BP1	NM_153029,p.P837S|uc002efp.3,p.P837S|ENST00000262384,p.P837S	retained_intron, protein_coding, processed_transcript	uc002efp.3	nonsynonymous SNV	exon7	c.C2509T	p.P837S	PQQPHFPLLPALPSLQQNLPMPAQR	PQQPHFPLLPALSSLQQNLPMPAQR	9.0	9.0	-	-	3881_16:48576997-48576997 G>A_PQQPHFPLLPALSSLQQNLPMPAQR
8:141678495-141678495 G>A	1.0	3881	MELANOMA	-	-	-	-	PTK2	uc003yvs.3,p.P867L|ENST00000517887,p.P957L|ENST00000535192,p.P867L|ENST00000519419,p.P957L|uc011ljp.2,p.P221L|uc003yvu.3,p.P913L|uc003yvt.3,p.P935L|uc003yvo.3,p.P541L|ENST00000538769,p.P581L|ENST00000521059,p.P913L|ENST00000523539,p.P585L|uc003yvp.3,p.P581L|NM_153831,p.P913L|ENST00000519465,p.P541L|NM_005607,p.P935L|ENST00000522684,p.P913L|uc003yvq.3,p.P418L|ENST00000430260,p.P223L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ljp.2	nonsynonymous SNV	exon9	c.C662T	p.P221L	GVKLQPQEISPPPTANLDRSNDKVY	GVKLQPQEISPPLTANLDRSNDKVY	10.0	5.0	unscreened	-	3881_8:141678495-141678495 G>A_GVKLQPQEISPPLTANLDRSNDKVY
9:35074137-35074137 G>A	1.0	3881	MELANOMA	-	-	ID=COSM260835;OCCURENCE=1(large_intestine)	1	FANCG	uc003zwb.1,p.R613W|NM_004629,p.R613W|ENST00000378643,p.R613W|uc010mkj.1,p.R355W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mkj.1	nonsynonymous SNV	exon13	c.C1063T	p.R355W	RPSDRDAFLEEFRTSLPKSCDL	RPSDRDAFLEEFWTSLPKSCDL	7.0	3.0	unscreened	-	3881_9:35074137-35074137 G>A_RPSDRDAFLEEFWTSLPKSCDL
15:101602780-101602780 A>T	1.0	3881	MELANOMA	-	-	-	-	LRRK1	ENST00000388948,p.D1600V|uc002bwr.3,p.D1600V|NM_024652,p.D1600V|ENST00000284395,p.D1597V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bwr.3	nonsynonymous SNV	exon31	c.A4799T	p.D1600V	LQVQRSLWTATEDQKIYIYTLKGMC	LQVQRSLWTATEVQKIYIYTLKGMC	6.0	1.0	unscreened	-	3881_15:101602780-101602780 A>T_LQVQRSLWTATEVQKIYIYTLKGMC
16:67401046-67401046 C>T	1.0	3881	MELANOMA	-	-	-	-	LRRC36	ENST00000290940,p.P26L|ENST00000563189,p.P173L|NM_001161575,p.P173L|uc010vjk.2,p.P173L|ENST00000435835,p.P173L|ENST00000329956,p.P294L|NM_018296,p.P294L|uc002esv.3,p.P294L|uc002esx.3,p.P173L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vjk.2	nonsynonymous SNV	exon5	c.C518T	p.P173L	KSSGSSPEKELIPKPDTFHLTHDAS	KSSGSSPEKELILKPDTFHLTHDAS	5.0	8.0	-	-	3881_16:67401046-67401046 C>T_KSSGSSPEKELILKPDTFHLTHDAS
8:141678495-141678495 G>A	1.0	3881	MELANOMA	-	-	-	-	PTK2	ENST00000395218,p.P926L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000395218	nonsynonymous SNV	exon31	c.C2777T	p.P926L	PNQLQPQEISPPPTANLDRSNDKVY	PNQLQPQEISPPLTANLDRSNDKVY	10.0	5.0	unscreened	-	3881_8:141678495-141678495 G>A_PNQLQPQEISPPLTANLDRSNDKVY
15:101114200-101114200 G>A	1.0	3881	MELANOMA	-	-	-	-	LINS	uc002bwi.3,p.A293V|ENST00000561308,p.A293V|uc010usa.2,p.A174V|NM_001040616,p.A293V|ENST00000560133,p.A174V|ENST00000314742,p.A293V|uc002bwg.3,p.A293V	retained_intron, protein_coding, processed_transcript	uc010usa.2	nonsynonymous SNV	exon5	c.C521T	p.A174V	SCMLEVITWPIQAFVKRKVIIFLKK	SCMLEVITWPIQVFVKRKVIIFLKK	7.0	9.0	-	-	3881_15:101114200-101114200 G>A_SCMLEVITWPIQVFVKRKVIIFLKK
2:55812257-55812257 G>A	1.0	3881	MELANOMA	-	-	-	-	SMEK2	uc002rza.3,p.S264F|uc002rzb.3,p.S388F|NM_001282850,p.S388F|ENST00000345102,p.S388F|uc002rzc.3,p.S388F|NM_020463,p.S388F|ENST00000407823,p.S388F|ENST00000272313,p.S388F|NM_001122964,p.S388F|uc002rzd.3,p.S388F	protein_coding, processed_transcript	uc002rzd.3	nonsynonymous SNV	exon7	c.C1163T	p.S388F	DLQVRSAATDIFSYLVEFSPSMVRE	DLQVRSAATDIFFYLVEFSPSMVRE	8.0	4.0	unscreened	-	3881_2:55812257-55812257 G>A_DLQVRSAATDIFFYLVEFSPSMVRE
11:46395981-46395981 C>T	1.0	3881	MELANOMA	-	-	-	-	DGKZ	ENST00000532868,p.R484W|uc001ncl.2,p.R480W|uc001ncm.2,p.R479W|NM_001199266,p.R480W|NM_201532,p.R496W|ENST00000456247,p.R479W|uc001nck.2,p.R258W|ENST00000528615,p.R258W|NM_201533,p.R484W|uc009yky.1,p.R480W|ENST00000527911,p.R480W|ENST00000421244,p.R480W|ENST00000318201,p.R457W|NM_001199267,p.R479W|uc001nch.2,p.R496W|uc010rgq.2,p.R462W|uc001ncn.1,p.R668W|NM_001105540,p.R668W|uc010rgs.1,p.R457W|ENST00000454345,p.R668W|NM_001199268,p.R457W|ENST00000395574,p.R446W|ENST00000343674,p.R496W|uc010rgr.2,p.R484W|NM_003646,p.R480W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rgs.1	nonsynonymous SNV	exon15	c.C1369T	p.R457W	REANPEKFNSRFRNKMFYAGTAFSD	REANPEKFNSRFWNKMFYAGTAFSD	8.0	7.0	unscreened	-	3881_11:46395981-46395981 C>T_REANPEKFNSRFWNKMFYAGTAFSD
14:21899081-21899081 G>A	1.0	3881	MELANOMA	-	-	-	-	CHD8	uc001war.2,p.P241L|ENST00000399982,p.P241L|ENST00000557364,p.P241L|NM_001170629,p.P241L	retained_intron, protein_coding, processed_transcript	uc001war.2	nonsynonymous SNV	exon1	c.C722T	p.P241L	PGNQAAVQRIVQPSRPVKQLVLQPV	PGNQAAVQRIVQLSRPVKQLVLQPV	8.0	9.0	unscreened	-	3881_14:21899081-21899081 G>A_PGNQAAVQRIVQLSRPVKQLVLQPV
X:141291622-141291622 G>A	1.0	3881	MELANOMA	-	-	-	-	MAGEC2	ENST00000247452,p.S51F|uc004fbu.2,p.S51F|NM_016249,p.S51F|uc022cfj.1,p.S51F	protein_coding	uc022cfj.1	nonsynonymous SNV	exon1	c.C152T	p.S51F	ASSASSTLYLVFSPSSFSTSSSLIL	ASSASSTLYLVFFPSSFSTSSSLIL	10.0	7.0	unscreened	-	3881_X:141291622-141291622 G>A_ASSASSTLYLVFFPSSFSTSSSLIL
3:69026905-69026905 G>A	1.0	3881	MELANOMA	-	-	-	-	EOGT	ENST00000383701,p.P483L|uc003dnl.3,p.P483L|NM_001278689,p.P483L|ENST00000540764,p.P382L|uc011bfw.3,p.P207L|ENST00000540955,p.P207L|ENST00000295571,p.P399L|NM_173654,p.P399L|uc003dnj.3,p.P162L|uc003dnk.3,p.P399L	retained_intron, protein_coding, nonsense_mediated_decay	uc011bfw.3	nonsynonymous SNV	exon16	c.C620T	p.P207L	QNKVFPQDKGHHPTLGEHPKFTNYS	QNKVFPQDKGHHLTLGEHPKFTNYS	9.0	10.0	-	-	3881_3:69026905-69026905 G>A_QNKVFPQDKGHHLTLGEHPKFTNYS
18:25568611-25568611 G>A	1.0	3881	MELANOMA	-	-	-	-	CDH2	ENST00000399380,p.P509S|uc002kwg.2,p.P540S|ENST00000269141,p.P540S|NM_001792,p.P540S|uc010xbn.1,p.P509S	protein_coding	uc010xbn.1	nonsynonymous SNV	exon10	c.C1525T	p.P509S	MQQNIRYTKLSDPANWLKIDPVNGQ	MQQNIRYTKLSDSANWLKIDPVNGQ	10.0	8.0	-	-	3881_18:25568611-25568611 G>A_MQQNIRYTKLSDSANWLKIDPVNGQ
7:73927289-73927289 C>T	1.0	3881	MELANOMA	-	-	ID=COSM4149340;OCCURENCE=1(ovary)	-	GTF2IRD1	uc010lbq.3,p.L85F|NM_001199207,p.L85F|ENST00000455841,p.L85F	retained_intron, protein_coding, processed_transcript	uc010lbq.3	nonsynonymous SNV	exon3	c.C253T	p.L85F	FLNARKELQSDFLRFCLSAAQHRAA	FLNARKELQSDFFRFCLSAAQHRAA	6.0	3.0	unscreened	-	3881_7:73927289-73927289 C>T_FLNARKELQSDFFRFCLSAAQHRAA
7:33138976-33138976 G>A	1.0	3881	MELANOMA	-	-	-	-	RP9	NM_203288,p.H86Y|ENST00000297157,p.H86Y|ENST00000448915,p.H52Y|uc003tdm.3,p.H86Y	retained_intron, protein_coding	uc003tdm.3	nonsynonymous SNV	exon3	c.C256T	p.H86Y	VPGNEHAREFLAHAPTKGLWMPLGK	VPGNEHAREFLAYAPTKGLWMPLGK	8.0	9.0	-	-	3881_7:33138976-33138976 G>A_VPGNEHAREFLAYAPTKGLWMPLGK
2:99156003-99156003 C>T	1.0	3881	MELANOMA	-	-	-	-	INPP4A	ENST00000409851,p.A228V|NM_001134224,p.A228V|ENST00000409540,p.A228V|ENST00000545415,p.A228V|ENST00000409016,p.A228V|ENST00000074304,p.A228V|NM_004027,p.A228V|NM_001566,p.A228V|uc010yvk.2,p.A228V|NM_001134225,p.A228V|uc002syx.3,p.A228V|uc010yvj.1,p.A228V|uc002syy.3,p.A228V|ENST00000523221,p.A228V	retained_intron, protein_coding, processed_transcript	uc010yvk.2	nonsynonymous SNV	exon10	c.C683T	p.A228V	RKDTLLKSVFGGAICRMYRFPTTDG	RKDTLLKSVFGGVICRMYRFPTTDG	7.0	4.0	unscreened	-	3881_2:99156003-99156003 C>T_RKDTLLKSVFGGVICRMYRFPTTDG
7:92764878-92764878 A>G	1.0	3881	MELANOMA	-	-	-	-	SAMD9L	ENST00000318238,p.L136P|uc010lfc.1,p.L136P|uc003umk.1,p.L136P|uc003umh.1,p.L136P|uc022ahh.1,p.L136P|uc003umj.1,p.L136P|NM_152703,p.L136P|uc010lfb.1,p.L136P|ENST00000437805,p.L136P|ENST00000411955,p.L136P|uc003umi.1,p.L136P|uc010lfd.1,p.L136P	protein_coding, processed_transcript	uc022ahh.1	nonsynonymous SNV	exon1	c.T407C	p.L136P	REIRDIKQEESILMKENVLDEVANA	REIRDIKQEESIPMKENVLDEVANA	9.0	2.0	unscreened	-	3881_7:92764878-92764878 A>G_REIRDIKQEESIPMKENVLDEVANA
6:43323678-43323678 G>A	1.0	3881	MELANOMA	-	-	-	-	ZNF318	uc003oux.3,p.P465L|NM_014345,p.P465L|ENST00000605935,p.P465L|ENST00000361428,p.P465L|ENST00000318149,p.P465L	protein_coding	uc003oux.3	nonsynonymous SNV	exon4	c.C1394T	p.P465L	WGPLPGIPKDNSPLREKFGSFLCHK	WGPLPGIPKDNSLLREKFGSFLCHK	7.0	4.0	unscreened	-	3881_6:43323678-43323678 G>A_WGPLPGIPKDNSLLREKFGSFLCHK
21:46193575-46193575 G>A	1.0	3881	MELANOMA	-	-	-	-	UBE2G2	ENST00000345496,p.S91F|NM_003343,p.S91F|NM_001202489,p.S21F|NM_182688,p.S63F|uc021wjt.1,p.S21F|uc002zfx.3,p.S63F|ENST00000330942,p.S63F|uc002zfy.3,p.S91F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wjt.1	nonsynonymous SNV	exon3	c.C62T	p.S21F	HPNIYPDGRVCISILHAPGDDPMGY	HPNIYPDGRVCIFILHAPGDDPMGY	10.0	6.0	unscreened	-	3881_21:46193575-46193575 G>A_HPNIYPDGRVCIFILHAPGDDPMGY
1:149901597-149901597 G>A	1.0	3881	MELANOMA	-	-	ID=COSM528454,COSM528455;OCCURENCE=1(lung)	-	MTMR11	uc001etm.2,p.P548L|uc001etl.4,p.P620L|NM_181873,p.P548L|ENST00000439741,p.P620L|ENST00000369140,p.P548L|NM_001145862,p.P620L	retained_intron, protein_coding, processed_transcript	uc001etm.2	nonsynonymous SNV	exon15	c.C1643T	p.P548L	GLPSHWGACPLPPGLLLPGYLGPQI	GLPSHWGACPLPLGLLLPGYLGPQI	5.0	9.0	-	-	3881_1:149901597-149901597 G>A_GLPSHWGACPLPLGLLLPGYLGPQI
11:104821747-104821747 G>A	1.0	3881	MELANOMA	-	-	-	-	CASP4	ENST00000444739,p.P151S|ENST00000393150,p.P95S|NM_033306,p.P95S|uc009yxg.1,p.P60S|uc001pid.1,p.P151S|NM_001225,p.P151S|uc010rux.1,p.P151S|uc001pib.1,p.P95S	retained_intron, protein_coding, processed_transcript	uc010rux.1	nonsynonymous SNV	exon4	c.C451T	p.P151S	LIICNTEFDHLPPRNGADFDITGMK	LIICNTEFDHLPSRNGADFDITGMK	10.0	7.0	unscreened	-	3881_11:104821747-104821747 G>A_LIICNTEFDHLPSRNGADFDITGMK
16:18810035-18810035 G>A	1.0	3881	MELANOMA	-	-	-	-	ARL6IP1	uc002dfl.1,p.S53F|uc010van.1,p.S24F|ENST00000304414,p.S53F|ENST00000567078,p.S53F|NM_015161,p.S53F|ENST00000546206,p.S24F|ENST00000563861,p.S53F	 protein_coding, nonsense_mediated_decay,retained_intron	uc010van.1	nonsynonymous SNV	exon2	c.C71T	p.S24F	RAWFPPAIMGVVSLVFLIIYYLDPS	RAWFPPAIMGVVFLVFLIIYYLDPS	10.0	4.0	unscreened	-	3881_16:18810035-18810035 G>A_RAWFPPAIMGVVFLVFLIIYYLDPS
7:107234535-107234535 C>T	1.0	3881	MELANOMA	-	-	-	-	BCAP29	ENST00000491150,p.S67F|uc011kma.1,p.S110F|ENST00000465919,p.S16F|ENST00000379121,p.S16F|NM_001008405,p.S110F|NM_018844,p.S110F|uc011kly.1,p.S16F|ENST00000479917,p.S110F|ENST00000445771,p.S110F|ENST00000421217,p.S110F|ENST00000379119,p.S110F|ENST00000442065,p.S110F|ENST00000457837,p.S110F|ENST00000005259,p.S110F|ENST00000379117,p.S110F|uc003vej.2,p.S110F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kma.1	nonsynonymous SNV	exon3	c.C329T	p.S110F	FRSQRNLYISGFSLFFWLVLRRLVT	FRSQRNLYISGFFLFFWLVLRRLVT	10.0	5.0	unscreened	-	3881_7:107234535-107234535 C>T_FRSQRNLYISGFFLFFWLVLRRLVT
12:70150370-70150370 G>A	1.0	3881	MELANOMA	-	-	-	-	RAB3IP	uc001svn.3,p.R146Q|NM_022456,p.R146Q|ENST00000552199,p.R162Q|ENST00000417413,p.R146Q|uc001svp.3,p.R162Q|ENST00000362025,p.R162Q|ENST00000378809,p.R162Q|uc021rao.1,p.R146Q|NM_175624,p.R146Q|ENST00000550536,p.R162Q|ENST00000378815,p.R146Q|ENST00000549760,p.R146Q|ENST00000547055,p.R23Q|NM_175623,p.R162Q|uc001svq.3,p.R162Q|ENST00000483530,p.R146Q|uc001svm.3,p.R146Q|NM_175625,p.R162Q|ENST00000247833,p.R146Q	retained_intron, protein_coding, nonsense_mediated_decay	uc021rao.1	nonsynonymous SNV	exon3	c.G437A	p.R146Q	IFGLSTDSLSRLRSPSVLEVREKGY	IFGLSTDSLSRLQSPSVLEVREKGY	8.0	5.0	unscreened	-	3881_12:70150370-70150370 G>A_IFGLSTDSLSRLQSPSVLEVREKGY
20:45910949-45910949 G>A	1.0	3881	MELANOMA	-	-	-	-	ZMYND8	ENST00000461685,p.P299S|uc002xtg.3,p.P273S|uc002xst.1,p.P254S|uc010ghr.1,p.P254S|NM_001281771,p.P274S|ENST00000396281,p.P279S|ENST00000262975,p.P279S|uc002xsw.1,p.P31S|ENST00000360911,p.P274S|ENST00000352431,p.P299S|uc002xsv.1,p.P254S|NM_001281774,p.P279S|NM_001281777,p.P274S|NM_012408,p.P299S|NM_001281783,p.P299S|uc002xtf.1,p.P299S|ENST00000540497,p.P274S|NM_183047,p.P299S|NM_001281780,p.P31S|NM_001281772,p.P279S|NM_183048,p.P274S|NM_001281784,p.P274S|uc002xte.1,p.P279S|ENST00000458360,p.P274S|uc002xtd.1,p.P274S|ENST00000311275,p.P279S|NM_001281773,p.P279S|NM_001281779,p.P31S|uc002xta.1,p.P279S|ENST00000471951,p.P299S|ENST00000355972,p.P279S|uc010zxz.1,p.P274S|uc002xss.2,p.P279S|ENST00000536340,p.P306S|ENST00000446994,p.P216S|uc002xtb.1,p.P299S|uc010zya.1,p.P279S|ENST00000372023,p.P274S|NM_001281782,p.P274S|uc002xtc.1,p.P299S|uc010ghs.2,p.P273S|NM_001281775,p.P299S|NM_001281776,p.P299S|NM_001281781,p.P274S|uc002xsz.1,p.P216S|NM_001281778,p.P274S|uc002xsy.1,p.P254S|uc010zxy.1,p.P306S|uc002xsx.1,p.P31S|uc002xsu.1,p.P279S	protein_coding, processed_transcript	uc010zya.1	nonsynonymous SNV	exon11	c.C835T	p.P279S	DNWFCEPCSNPHPLVWAKLKGFPFW	DNWFCEPCSNPHSLVWAKLKGFPFW	10.0	6.0	unscreened	-	3881_20:45910949-45910949 G>A_DNWFCEPCSNPHSLVWAKLKGFPFW
X:53226031-53226031 G>C	1.0	3881	MELANOMA	-	-	-	1	KDM5C	uc022bxe.1,p.P873A|ENST00000404049,p.P939A|uc004drz.3,p.P940A|NM_001146702,p.P873A|ENST00000375383,p.P899A|NM_001282622,p.P939A|ENST00000452825,p.P873A|uc004dsa.3,p.P939A|NM_004187,p.P940A|ENST00000375401,p.P940A|ENST00000375379,p.P940A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022bxe.1	nonsynonymous SNV	exon17	c.C2617G	p.P873A	ARWLDEVKRTLAPSARRGTLAVMRG	ARWLDEVKRTLAASARRGTLAVMRG	10.0	7.0	unscreened	-	3881_X:53226031-53226031 G>C_ARWLDEVKRTLAASARRGTLAVMRG
X:154299923-154299923 G>A	1.0	3881	MELANOMA	-	-	-	-	BRCC3	ENST00000369462,p.E41K|uc004fnb.3,p.E41K|NM_001018055,p.E41K|NM_024332,p.E41K|ENST00000369459,p.E41K|uc004fna.3,p.E41K|ENST00000330045,p.E41K	protein_coding, nonsense_mediated_decay	uc004fnb.3	nonsynonymous SNV	exon1	c.G121A	p.E41K	TEKEEVMGLCIGELNDDTRSDSKFA	TEKEEVMGLCIGKLNDDTRSDSKFA	8.0	6.0	unscreened	-	3881_X:154299923-154299923 G>A_TEKEEVMGLCIGKLNDDTRSDSKFA
7:82579120-82579120 G>A	1.0	3881	MELANOMA	-	-	-	-	PCLO	uc010lec.3,p.P560L|ENST00000423517,p.P3595L|uc003uhx.2,p.P3595L|uc003uhv.2,p.P3595L|NM_033026,p.P3595L|ENST00000333891,p.P3595L|ENST00000437081,p.P315L|NM_014510,p.P3595L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon1	c.C1679T	p.P560L	ATSPPKDKKRPTPLEIGYSSHLRAD	ATSPPKDKKRPTLLEIGYSSHLRAD	6.0	4.0	unscreened	-	3881_7:82579120-82579120 G>A_ATSPPKDKKRPTLLEIGYSSHLRAD
10:20506476-20506476 C>T	0.0	3881	MELANOMA	-	-	-	-	PLXDC2	uc001iqg.1,p.S415F|uc001iqh.1,p.S366F|ENST00000377252,p.S415F|ENST00000377242,p.S366F|NM_001282736,p.S366F|NM_032812,p.S415F	protein_coding	uc001iqh.1	nonsynonymous SNV	exon10	c.C1097T	p.S366F	FRVLTTTRRAVTSQFPTSLPTEDDT	FRVLTTTRRAVTFQFPTSLPTEDDT	6.0	10.0	unscreened	-	3881_10:20506476-20506476 C>T_FRVLTTTRRAVTFQFPTSLPTEDDT
11:20125260-20125260 C>T	1.0	3881	MELANOMA	-	-	-	-	NAV2	ENST00000533917,p.H1276Y|NM_001111019,p.H1276Y|ENST00000360655,p.H2148Y|NM_001111018,p.H2148Y|uc009yhz.3,p.H857Y|NM_001244963,p.H2271Y|ENST00000311043,p.H1276Y|NM_145117,p.H2212Y|ENST00000349880,p.H2212Y|NM_182964,p.H2215Y|uc031pzj.1,p.H2271Y|uc021qew.1,p.H2215Y|uc001mpu.3,p.H650Y|ENST00000396087,p.H2271Y|ENST00000396085,p.H2215Y|ENST00000527559,p.H2200Y|uc009yhx.4,p.H1276Y|ENST00000540292,p.H2202Y|uc001mpp.3,p.H2148Y	retained_intron, protein_coding, processed_transcript	uc031pzj.1	nonsynonymous SNV	exon37	c.C6811T	p.H2271Y	QATSSTPNLQLHHNFRWVLCANHTE	QATSSTPNLQLHYNFRWVLCANHTE	10.0	5.0	unscreened	-	3881_11:20125260-20125260 C>T_QATSSTPNLQLHYNFRWVLCANHTE
18:46474772-46474772 C>T	1.0	3881	MELANOMA	-	-	-	-	SMAD7	NM_001190821,p.D217N|ENST00000589634,p.D217N|uc021ujr.1,p.D217N	retained_intron, protein_coding, processed_transcript	uc021ujr.1	nonsynonymous SNV	exon2	c.G649A	p.D217N	ESPPPPYSRYPMDFLKPTDCPDAVP	ESPPPPYSRYPMNFLKPTDCPDAVP	7.0	8.0	unscreened	-	3881_18:46474772-46474772 C>T_ESPPPPYSRYPMNFLKPTDCPDAVP
9:35105231-35105231 G>A	1.0	3881	MELANOMA	-	-	-	-	FAM214B	uc003zwl.3,p.S535L|NM_025182,p.S535L|ENST00000605244,p.S535L|ENST00000378566,p.S230L|ENST00000378557,p.S535L|uc003zwn.3,p.S230L|ENST00000378561,p.S535L|ENST00000322813,p.S535L|ENST00000488109,p.S535L|uc003zwm.3,p.S535L|ENST00000603301,p.S535L|uc003zwo.3,p.S535L	protein_coding, processed_transcript	uc003zwo.3	nonsynonymous SNV	exon9	c.C1604T	p.S535L	QAVTEAPHNPRYSPLP	QAVTEAPHNPRYLPLP	9.0	3.0	unscreened	-	3881_9:35105231-35105231 G>A_QAVTEAPHNPRYLPLP
9:139912065-139912065 G>A	1.0	3881	MELANOMA	-	-	-	-	ABCA2	NM_212533,p.S794F|uc004ckl.1,p.S694F|uc022bpz.1,p.S764F|NM_001606,p.S764F|ENST00000487109,p.S793F|ENST00000341511,p.S764F|ENST00000488535,p.S111F|ENST00000371605,p.S763F|ENST00000459850,p.S793F|ENST00000265662,p.S764F|uc011mem.1,p.S763F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022bpz.1	nonsynonymous SNV	exon17	c.C2291T	p.S764F	AWFITGFVQLSISVTALTAILKYGQ	AWFITGFVQLSIFVTALTAILKYGQ	7.0	10.0	-	-	3881_9:139912065-139912065 G>A_AWFITGFVQLSIFVTALTAILKYGQ
17:7578550-7578550 G>A	1.0	3881	MELANOMA	-	-	ID=COSM216414,COSM3378368,COSM44226,COSM216412,COSM216413,COSM1637542;OCCURENCE=5(ovary),2(small_intestine),6(skin),3(large_intestine),1(biliary_tract),1(urinary_tract),3(pancreas),1(stomach),3(central_nervous_system),2(oesophagus),2(upper_aerodigestive_tract),1(bone),1(thyroid),1(lung)	1	TP53	NM_001126118,p.S88F|ENST00000445888,p.S127F|uc002gih.3,p.S127F|NM_001276760,p.S88F|uc002gij.3,p.S88F|ENST00000455263,p.S127F|ENST00000359597,p.S127F|NM_000546,p.S127F|NM_001126113,p.S127F|NM_001276696,p.S88F|NM_001126114,p.S127F|ENST00000413465,p.S127F|NM_001276761,p.S88F|ENST00000420246,p.S127F|uc010vug.3,p.S88F|uc002gig.1,p.S127F|NM_001276695,p.S88F|NM_001126112,p.S127F|uc031qyq.1,p.S88F|ENST00000508793,p.S127F|ENST00000269305,p.S127F	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon4	c.C263T	p.S88F	HSGTAKSVTCTYSPALNKMFCQLAK	HSGTAKSVTCTYFPALNKMFCQLAK	9.0	3.0	unscreened	-	3881_17:7578550-7578550 G>A_HSGTAKSVTCTYFPALNKMFCQLAK
5:136314499-136314499 A>C	1.0	3881	MELANOMA	-	-	-	-	SPOCK1	uc003lbo.3,p.S388R|NM_004598,p.S388R|ENST00000394945,p.S388R|uc003lbp.3,p.S388R|ENST00000282223,p.S388R	retained_intron, protein_coding, processed_transcript	uc003lbp.3	nonsynonymous SNV	exon11	c.T1164G	p.S388R	CEEEQETSGDFGSGGSVVLLDDLEY	CEEEQETSGDFGRGGSVVLLDDLEY	10.0	6.0	unscreened	-	3881_5:136314499-136314499 A>C_CEEEQETSGDFGRGGSVVLLDDLEY
15:22846888-22846888 C>T	1.0	3881	MELANOMA	-	-	-	-	TUBGCP5	NM_052903,p.P255S|ENST00000453949,p.P255S|uc001yuq.2,p.P255S|uc001yur.4,p.P255S|NM_001102610,p.P255S|ENST00000283645,p.P255S	retained_intron, protein_coding, processed_transcript	uc001yur.4	nonsynonymous SNV	exon8	c.C763T	p.P255S	AAVWDQHLYSSDPLYVPDDRVLVTE	AAVWDQHLYSSDSLYVPDDRVLVTE	8.0	6.0	unscreened	-	3881_15:22846888-22846888 C>T_AAVWDQHLYSSDSLYVPDDRVLVTE
19:58455418-58455418 G>A	1.0	3881	MELANOMA	-	-	-	-	ZNF256	NM_005773,p.T15I|ENST00000282308,p.T15I|uc002qqu.3,p.T15I	protein_coding	uc002qqu.3	nonsynonymous SNV	exon2	c.C44T	p.T15I	AAELTAPAQGIVTFEDVAVYFSWKE	AAELTAPAQGIVIFEDVAVYFSWKE	6.0	2.0	unscreened	-	3881_19:58455418-58455418 G>A_AAELTAPAQGIVIFEDVAVYFSWKE
3:10130621-10130621 C>T	1.0	3881	MELANOMA	-	-	-	1	FANCD2	ENST00000383806,p.P1224S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000383806	nonsynonymous SNV	exon36	c.C3670T	p.P1224S	INSPKDASSSTFPTLTRFMKRNSST	INSPKDASSSTFSTLTRFMKRNSST	7.0	1.0	unscreened	-	3881_3:10130621-10130621 C>T_INSPKDASSSTFSTLTRFMKRNSST
11:681007-681007 G>A	1.0	3881	MELANOMA	-	-	-	-	DEAF1	NM_021008,p.S318F|uc001lqq.1,p.S318F|ENST00000382409,p.S318F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lqq.1	nonsynonymous SNV	exon7	c.C953T	p.S318F	ENELPTTPVKKDSPKNITLLPATAA	ENELPTTPVKKDFPKNITLLPATAA	10.0	3.0	unscreened	-	3881_11:681007-681007 G>A_ENELPTTPVKKDFPKNITLLPATAA
11:62521043-62521043 T>C	1.0	3881	MELANOMA	-	-	-	-	ZBTB3	ENST00000527994,p.S32G|NM_024784,p.S82G|uc001nuz.3,p.S82G|ENST00000394807,p.S82G	protein_coding, nonsense_mediated_decay	uc001nuz.3	nonsynonymous SNV	exon2	c.A244G	p.S82G	QGFLCDCTVMVGSTQFLAHRAVLAS	QGFLCDCTVMVGGTQFLAHRAVLAS	6.0	8.0	unscreened	-	3881_11:62521043-62521043 T>C_QGFLCDCTVMVGGTQFLAHRAVLAS
19:47876940-47876940 C>T	1.0	3881	MELANOMA	-	-	-	-	DHX34	uc010xyn.2,p.L683F|ENST00000328771,p.L683F|NM_014681,p.L683F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xyn.2	nonsynonymous SNV	exon9	c.C2047T	p.L683F	GIEEHRLYEMANLRRQFKELLEDHG	GIEEHRLYEMANFRRQFKELLEDHG	6.0	9.0	-	-	3881_19:47876940-47876940 C>T_GIEEHRLYEMANFRRQFKELLEDHG
19:7607510-7607510 C>T	1.0	3881	MELANOMA	-	-	-	-	PNPLA6	NM_001166113,p.S400F|uc002mgq.2,p.S400F|ENST00000545201,p.S400F|ENST00000414982,p.S448F|uc002mgr.2,p.S400F|NM_001166114,p.S439F|ENST00000600737,p.S439F|NM_001166112,p.S400F|uc002mgs.3,p.S439F|ENST00000221249,p.S400F|NM_006702,p.S400F|ENST00000450331,p.S400F|NM_001166111,p.S448F|uc010xjp.2,p.S400F|uc010xjq.2,p.S448F	retained_intron, protein_coding, processed_transcript	uc010xjq.2	nonsynonymous SNV	exon13	c.C1343T	p.S448F	FDMAYERGRISVSLQEEASGGSLAA	FDMAYERGRISVFLQEEASGGSLAA	9.0	5.0	unscreened	-	3881_19:7607510-7607510 C>T_FDMAYERGRISVFLQEEASGGSLAA
1:186092349-186092349 C>T	1.0	3881	MELANOMA	-	-	-	-	HMCN1	NM_031935,p.H4166Y|ENST00000367492,p.H4166Y|uc001grq.1,p.H4166Y|ENST00000271588,p.H4166Y	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon81	c.C12496T	p.H4166Y	AGSSSTSTKLTVHVPPRIRSTEGHY	AGSSSTSTKLTVYVPPRIRSTEGHY	10.0	6.0	unscreened	-	3881_1:186092349-186092349 C>T_AGSSSTSTKLTVYVPPRIRSTEGHY
15:28501271-28501271 G>A	1.0	3881	MELANOMA	-	-	-	-	HERC2	uc001zbj.4,p.R904W|ENST00000261609,p.R904W|NM_004667,p.R904W|uc001zbl.2,p.R599W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zbl.2	nonsynonymous SNV	exon19	c.C1795T	p.R599W	SGWSVLLPTAEERARALSALLPCAV	SGWSVLLPTAEEWARALSALLPCAV	9.0	8.0	unscreened	-	3881_15:28501271-28501271 G>A_SGWSVLLPTAEEWARALSALLPCAV
1:53236958-53236958 G>A	1.0	3881	MELANOMA	-	-	-	-	ZYG11B	NM_024646,p.E155K|ENST00000294353,p.E155K|uc010onj.2,p.E146K|ENST00000443756,p.E155K|ENST00000545132,p.E155K|uc001cuj.3,p.E155K	protein_coding	uc010onj.2	nonsynonymous SNV	exon3	c.G436A	p.E146K	LNSLTLSLEDPYERCFSRLSGLRAL	LNSLTLSLEDPYKRCFSRLSGLRAL	7.0	6.0	unscreened	-	3881_1:53236958-53236958 G>A_LNSLTLSLEDPYKRCFSRLSGLRAL
5:16694654-16694654 G>A	1.0	3881	MELANOMA	-	-	-	-	MYO10	uc010itx.3,p.S832F|ENST00000274203,p.S566F|ENST00000515803,p.S548F|ENST00000513610,p.S1209F|uc011cnc.2,p.S88F|NM_012334,p.S1209F|uc011cne.2,p.S566F|uc011cnd.2,p.S566F|uc003jft.4,p.S1209F|ENST00000427430,p.S566F|ENST00000505695,p.S548F	retained_intron, protein_coding, processed_transcript	uc011cne.2	nonsynonymous SNV	exon9	c.C1697T	p.S566F	CVLKDETFLWFRSKQEALKQGWLHK	CVLKDETFLWFRFKQEALKQGWLHK	10.0	4.0	unscreened	-	3881_5:16694654-16694654 G>A_CVLKDETFLWFRFKQEALKQGWLHK
4:80246734-80246734 C>T	1.0	3881	MELANOMA	-	-	-	-	NAA11	NM_032693,p.E100K|uc003hlt.4,p.E100K|uc021xpl.1,p.E100K|ENST00000286794,p.E100K	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xpl.1	nonsynonymous SNV	exon1	c.G298A	p.E100K	QKLMDQASRAMIENFNAKYVSLHVR	QKLMDQASRAMIKNFNAKYVSLHVR	6.0	9.0	-	-	3881_4:80246734-80246734 C>T_QKLMDQASRAMIKNFNAKYVSLHVR
1:11718444-11718444 C>T	1.0	3881	MELANOMA	-	-	-	-	FBXO44	uc001asm.3,p.S129L|NM_033182,p.S129L|ENST00000251547,p.S129L|NM_001014765,p.S129L|uc001asl.3,p.S129L|ENST00000376770,p.S129L	protein_coding, processed_transcript	uc001asm.3	nonsynonymous SNV	exon3	c.C386T	p.S129L	FPNDQVKKYFVTSYYTCLKSQVVDL	FPNDQVKKYFVTLYYTCLKSQVVDL	6.0	3.0	unscreened	-	3881_1:11718444-11718444 C>T_FPNDQVKKYFVTLYYTCLKSQVVDL
4:60043-60043 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF595,ZNF718	uc003fzv.1,p.P75S	retained_intron, protein_coding, processed_transcript	uc003fzv.1	nonsynonymous SNV	exon3	c.C223T	p.P75S	CNLKIHETAAKPPAICSPFSQDLSP	CNLKIHETAAKPSAICSPFSQDLSP	10.0	1.0	unscreened	-	3881_4:60043-60043 C>T_CNLKIHETAAKPSAICSPFSQDLSP
X:76939735-76939735 G>A	1.0	3881	MELANOMA	-	-	-	1	ATRX	NM_138270,p.S300F|ENST00000395603,p.S300F|NM_000489,p.S338F|uc004ecr.2,p.S299F|uc010nlx.1,p.S338F|uc004ecq.4,p.S300F|uc010nly.1,p.S283F|uc004ecp.4,p.S338F|uc004eco.4,p.S123F|ENST00000373344,p.S338F	protein_coding, processed_transcript	uc010nly.1	nonsynonymous SNV	exon8	c.C848T	p.S283F	GEEKKLDDSCSGSVTYSYSALIVPK	GEEKKLDDSCSGFVTYSYSALIVPK	9.0	3.0	unscreened	-	3881_X:76939735-76939735 G>A_GEEKKLDDSCSGFVTYSYSALIVPK
2:231077541-231077541 G>A	1.0	3881	MELANOMA	-	rs41552315	-	-	SP110	ENST00000392048,p.S173L|uc002vqg.3,p.S173L|NM_001185015,p.S179L|ENST00000455674,p.S127L|NM_080424,p.S173L|uc002vqi.4,p.S173L|ENST00000540870,p.S179L|ENST00000358662,p.S173L|ENST00000258382,p.S173L|NM_004510,p.S173L|NM_004509,p.S173L|ENST00000258381,p.S173L|uc021vxx.1,p.S179L|uc010fxk.3,p.S173L|uc002vqh.3,p.S173L|ENST00000409815,p.S173L	retained_intron, protein_coding, processed_transcript	uc021vxx.1	nonsynonymous SNV	exon5	c.C536T	p.S179L	TSSQQSDEILSESPSPSDPVLPLPA	TSSQQSDEILSELPSPSDPVLPLPA	8.0	7.0	unscreened	-	3881_2:231077541-231077541 G>A_TSSQQSDEILSELPSPSDPVLPLPA
7:2311528-2311528 G>A	1.0	3881	MELANOMA	-	-	-	-	SNX8	ENST00000435336,p.S113F|uc003slw.3,p.S166F|ENST00000457286,p.S113F|NM_013321,p.S166F|ENST00000435060,p.S152F|ENST00000222990,p.S166F	retained_intron, protein_coding	uc003slw.3	nonsynonymous SNV	exon4	c.C497T	p.S166F	RFVNLVARHPLFSEDVVLKLFLSFS	RFVNLVARHPLFFEDVVLKLFLSFS	8.0	9.0	-	-	3881_7:2311528-2311528 G>A_RFVNLVARHPLFFEDVVLKLFLSFS
1:162353016-162353016 C>T	1.0	3881	MELANOMA	-	-	-	-	C1orf226	ENST00000458626,p.P121L|NM_001085375,p.P121L|ENST00000420220,p.P121L|NM_001135240,p.P164L|uc010pkt.1,p.P164L|uc001gby.2,p.P121L|ENST00000426197,p.P164L	protein_coding	uc010pkt.1	nonsynonymous SNV	exon3	c.C491T	p.P164L	LQETFPRLDPPPPITRKRTPRALKT	LQETFPRLDPPPLITRKRTPRALKT	6.0	10.0	-	-	3881_1:162353016-162353016 C>T_LQETFPRLDPPPLITRKRTPRALKT
1:160063928-160063928 G>A	1.0	3881	MELANOMA	-	-	-	-	IGSF8	ENST00000448417,p.P159L|uc001fva.3,p.P159L|NM_001206665,p.P159L|NM_052868,p.P159L|uc001fuz.3,p.P159L|ENST00000314485,p.P159L|ENST00000368086,p.P159L|uc009wtf.3,p.P159L	protein_coding, processed_transcript	uc009wtf.3	nonsynonymous SNV	exon4	c.C476T	p.P159L	RVLPDVLQVSAAPPGPRGRQAPTSP	RVLPDVLQVSAALPGPRGRQAPTSP	5.0	9.0	unscreened	-	3881_1:160063928-160063928 G>A_RVLPDVLQVSAALPGPRGRQAPTSP
7:107820751-107820751 G>A	1.0	3881	MELANOMA	-	-	-	-	NRCAM	ENST00000379022,p.H923Y|NM_001037132,p.H923Y|uc003vfd.3,p.H904Y|NM_001193583,p.H904Y|NM_001193582,p.H923Y|ENST00000413765,p.H904Y|ENST00000379028,p.H923Y|ENST00000379024,p.H904Y|NM_005010,p.H907Y|uc022aka.1,p.H923Y|ENST00000425651,p.H923Y|uc003vfe.3,p.H904Y|ENST00000351718,p.H907Y|NM_001193584,p.H904Y|uc011kmk.2,p.H923Y|uc003vfc.3,p.H907Y	retained_intron, protein_coding, processed_transcript	uc022aka.1	nonsynonymous SNV	exon22	c.C2767T	p.H923Y	THGMLPGLEPFSHYTLNVRVVNGKG	THGMLPGLEPFSYYTLNVRVVNGKG	8.0	8.0	-	-	3881_7:107820751-107820751 G>A_THGMLPGLEPFSYYTLNVRVVNGKG
9:34655294-34655294 C>T	1.0	3881	MELANOMA	-	-	-	-	IL11RA	ENST00000555981,p.P27L|ENST00000602473,p.P27L|ENST00000556792,p.P27L|ENST00000556531,p.P27L|NM_001142784,p.P27L|uc031tdp.1,p.P27L|ENST00000441545,p.P27L|ENST00000378817,p.P27L|uc011loq.3,p.P27L|ENST00000556278,p.P171L|ENST00000557298,p.P27L|uc003zvi.4,p.P27L|ENST00000318041,p.P27L|uc003zvk.4,p.P27L|ENST00000555003,p.P27L	 protein_coding, processed_transcript, nonsense_mediated_decay,retained_intron	uc031tdp.1	nonsynonymous SNV	exon1	c.C80T	p.P27L	VATALVSASSPCPQAWGPPGVQYGQ	VATALVSASSPCLQAWGPPGVQYGQ	7.0	1.0	unscreened	-	3881_9:34655294-34655294 C>T_VATALVSASSPCLQAWGPPGVQYGQ
2:46986972-46986972 C>T	1.0	3881	MELANOMA	-	-	-	-	SOCS5	ENST00000394861,p.H435Y|uc021vgx.1,p.H435Y|uc002rvg.3,p.H435Y|ENST00000306503,p.H435Y|NM_014011,p.H435Y|uc002rvf.3,p.H435Y|NM_144949,p.H435Y	protein_coding	uc021vgx.1	nonsynonymous SNV	exon1	c.C1303T	p.H435Y	NRSLHARIEQWNHNFSFDAHDPCVF	NRSLHARIEQWNYNFSFDAHDPCVF	6.0	5.0	unscreened	-	3881_2:46986972-46986972 C>T_NRSLHARIEQWNYNFSFDAHDPCVF
16:50118141-50118141 C>T	1.0	3881	MELANOMA	-	-	-	-	HEATR3	ENST00000285767,p.S324F|uc002efx.3,p.S324F|NM_182922,p.S410F|ENST00000299192,p.S410F|uc002efw.3,p.S410F	retained_intron, protein_coding, processed_transcript	uc002efx.3	nonsynonymous SNV	exon8	c.C971T	p.S324F	ENSFSECGGQLFSPLCLSHEVHTAL	ENSFSECGGQLFFPLCLSHEVHTAL	8.0	5.0	unscreened	-	3881_16:50118141-50118141 C>T_ENSFSECGGQLFFPLCLSHEVHTAL
3:33055745-33055745 G>A	1.0	3881	MELANOMA	-	-	-	-	GLB1	uc003cfj.1,p.P382S|uc003cfi.1,p.P513S|NM_000404,p.P513S|NM_001079811,p.P483S|NM_001135602,p.P382S|uc003cfh.1,p.P483S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cfj.1	nonsynonymous SNV	exon12	c.C1144T	p.P382S	LSSNILTDWTIFPLDTEDAVRSHLG	LSSNILTDWTIFSLDTEDAVRSHLG	10.0	2.0	unscreened	-	3881_3:33055745-33055745 G>A_LSSNILTDWTIFSLDTEDAVRSHLG
16:46952576-46952576 C>T	1.0	3881	MELANOMA	-	-	-	-	GPT2	NM_001142466,p.S215F|NM_133443,p.S315F|ENST00000440783,p.S215F|uc002eel.3,p.S315F|ENST00000340124,p.S315F|uc002eem.3,p.S215F	retained_intron, protein_coding	uc002eem.3	nonsynonymous SNV	exon8	c.C644T	p.S215F	QDNVYSPDCRFHSFKKVLYEMGPEY	QDNVYSPDCRFHFFKKVLYEMGPEY	6.0	4.0	unscreened	-	3881_16:46952576-46952576 C>T_QDNVYSPDCRFHFFKKVLYEMGPEY
19:49379193-49379193 C>T	1.0	3881	MELANOMA	-	-	-	-	PPP1R15A	uc002pky.4,p.A663V|ENST00000200453,p.A663V|NM_014330,p.A663V	protein_coding	uc002pky.4	nonsynonymous SNV	exon3	c.C1988T	p.A663V	QAVATPSRSSAAAAAALDLSGRRG	QAVATPSRSSAAVAAALDLSGRRG	9.0	3.0	unscreened	-	3881_19:49379193-49379193 C>T_QAVATPSRSSAAVAAALDLSGRRG
6:56499302-56499302 G>A	1.0	3881	MELANOMA	-	-	-	-	DST	ENST00000361203,p.T940I|NM_001144770,p.T980I|uc021zba.2,p.T1118I|NM_001144769,p.T1118I|ENST00000518935,p.T614I|ENST00000446842,p.T614I|uc021zaz.2,p.T940I|ENST00000244364,p.T614I|ENST00000370788,p.T940I|ENST00000421834,p.T940I|ENST00000520645,p.T980I|uc003pdc.4,p.T614I|ENST00000312431,p.T940I|NM_015548,p.T614I|ENST00000370769,p.T940I|NM_001723,p.T614I|uc003pcy.4,p.T614I|ENST00000370765,p.T614I|uc021zay.2,p.T980I|uc003pdd.4,p.T614I|uc021zax.1,p.T614I|NM_183380,p.T940I|ENST00000370754,p.T1118I|ENST00000439203,p.T614I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zba.2	nonsynonymous SNV	exon25	c.C3353T	p.T1118I	TGNEAMVPSVCFTVPPPNKEAVDLA	TGNEAMVPSVCFIVPPPNKEAVDLA	10.0	5.0	unscreened	-	3881_6:56499302-56499302 G>A_TGNEAMVPSVCFIVPPPNKEAVDLA
16:70698509-70698509 G>A	1.0	3881	MELANOMA	-	-	-	-	MTSS1L	NM_138383,p.P488L|ENST00000338779,p.P488L|uc002ezj.3,p.P488L	protein_coding	uc002ezj.3	nonsynonymous SNV	exon14	c.C1463T	p.P488L	QTTTPSCSEDTIPSQGSDYDCYSVN	QTTTPSCSEDTILSQGSDYDCYSVN	10.0	4.0	unscreened	-	3881_16:70698509-70698509 G>A_QTTTPSCSEDTILSQGSDYDCYSVN
19:1278923-1278923 C>T	1.0	3881	MELANOMA	-	-	-	-	C19orf24	uc002lrx.5,p.P51S	retained_intron, protein_coding, processed_transcript	uc002lrx.5	nonsynonymous SNV	exon3	c.C151T	p.P51S	PGLVSPSANPRAPFGTCTARRPVAT	PGLVSPSANPRASFGTCTARRPVAT	6.0	6.0	unscreened	-	3881_19:1278923-1278923 C>T_PGLVSPSANPRASFGTCTARRPVAT
10:97983655-97983655 G>A	0.0	3881	MELANOMA	-	-	-	-	BLNK	uc001kme.4,p.S69F|NM_001114094,p.S151F|uc001klt.4,p.S65F|NM_013314,p.S151F|uc001kma.4,p.S151F|ENST00000413476,p.S151F|NM_001258440,p.S151F|uc001kly.4,p.S151F|ENST00000224337,p.S151F|uc001klu.4,p.S69F|ENST00000427367,p.S151F|uc001kmd.4,p.S69F|ENST00000371176,p.S151F|uc001kls.4,p.S151F|NM_001258441,p.S151F|uc001klx.4,p.S151F	retained_intron, protein_coding, nonsense_mediated_decay	uc001kme.4	nonsynonymous SNV	exon4	c.C206T	p.S69F	KPSWPSEKARLTSTLPALTALQKPQ	KPSWPSEKARLTFTLPALTALQKPQ	6.0	10.0	unscreened	-	3881_10:97983655-97983655 G>A_KPSWPSEKARLTFTLPALTALQKPQ
1:173951888-173951888 G>A	1.0	3881	MELANOMA	-	-	-	-	RC3H1	NM_001300852,p.L249F|uc001gju.4,p.L249F|uc010pms.2,p.L249F|ENST00000258349,p.L249F|uc010pmt.2,p.L249F|ENST00000367696,p.L249F|NM_001300851,p.L249F|NM_172071,p.L249F|ENST00000367694,p.L249F|uc001gjv.3,p.L249F|NM_001300850,p.L249F	retained_intron, protein_coding	uc010pmt.2	nonsynonymous SNV	exon4	c.C745T	p.L249F	ASKTSIGHVVQLLYRASCFKVTKRD	ASKTSIGHVVQLFYRASCFKVTKRD	8.0	3.0	unscreened	-	3881_1:173951888-173951888 G>A_ASKTSIGHVVQLFYRASCFKVTKRD
14:39517893-39517893 G>A	1.0	3881	MELANOMA	-	-	-	-	SEC23A	NM_006364,p.S567F|ENST00000537403,p.S365F|uc001wup.1,p.S567F|ENST00000545328,p.S538F|ENST00000536508,p.S441F|uc010tqb.1,p.S538F|ENST00000307712,p.S567F|uc010tqa.1,p.S429F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tqb.1	nonsynonymous SNV	exon14	c.C1613T	p.S538F	QKFGEYHKDDPSSFRFSETFSLYPQ	QKFGEYHKDDPSFFRFSETFSLYPQ	9.0	6.0	unscreened	-	3881_14:39517893-39517893 G>A_QKFGEYHKDDPSFFRFSETFSLYPQ
15:75654263-75654263 G>A	1.0	3881	MELANOMA	-	-	-	-	MAN2C1	ENST00000565683,p.A345V|NM_001256496,p.A246V|NM_001256494,p.A345V|NM_001256495,p.A345V|ENST00000267978,p.A345V|uc010bkk.4,p.A246V|NM_006715,p.A345V|uc002baf.4,p.A345V|uc002bah.4,p.A345V|uc010umi.2,p.A127V|uc002bag.4,p.A345V|ENST00000563622,p.A246V|ENST00000569482,p.A345V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010umi.2	nonsynonymous SNV	exon6	c.C380T	p.A127V	WVEMDGNLPSGEAMVRQFLQGQNFF	WVEMDGNLPSGEVMVRQFLQGQNFF	9.0	1.0	unscreened	-	3881_15:75654263-75654263 G>A_WVEMDGNLPSGEVMVRQFLQGQNFF
2:231101922-231101922 C>T	0.0	3881	MELANOMA	-	-	-	-	SP140	ENST00000350136,p.P42S|uc002vql.3,p.P62S|ENST00000392045,p.P62S|uc002vqm.3,p.P62S|NM_007237,p.P62S|NM_001278452,p.P62S|ENST00000373645,p.P62S|ENST00000343805,p.P62S|NM_001005176,p.P62S|ENST00000486687,p.P62S|uc002vqj.3,p.P62S|uc010fxl.3,p.P62S|uc002vqn.3,p.P62S|NM_001278451,p.P62S|NM_001278453,p.P62S|ENST00000417495,p.P62S|uc002vqk.2,p.P62S|ENST00000420434,p.P62S	retained_intron, protein_coding, processed_transcript	uc010fxl.3	nonsynonymous SNV	exon2	c.C184T	p.P62S	KVEIASAITRPFPFLMGLRDRSFIS	KVEIASAITRPFSFLMGLRDRSFIS	6.0	4.0	unscreened	-	3881_2:231101922-231101922 C>T_KVEIASAITRPFSFLMGLRDRSFIS
21:10944672-10944672 G>A	0.0	3881	MELANOMA	-	-	ID=COSM419291,COSM1133652;OCCURENCE=1(urinary_tract)	-	TPTE	NM_199259,p.P170S|NM_001290224,p.P50S|uc010gkv.1,p.P50S|uc002yiq.1,p.P170S|NM_199261,p.P188S|ENST00000361285,p.P188S|ENST00000342420,p.P150S|NM_199260,p.P150S|uc002yir.1,p.P150S|ENST00000298232,p.P170S|uc002yip.1,p.P188S	protein_coding, processed_transcript	uc010gkv.1	nonsynonymous SNV	exon6	c.C148T	p.P50S	YIFFDIKLLRNIPRWTHLLRLLRLI	YIFFDIKLLRNISRWTHLLRLLRLI	7.0	1.0	unscreened	-	3881_21:10944672-10944672 G>A_YIFFDIKLLRNISRWTHLLRLLRLI
3:33055745-33055745 G>A	1.0	3881	MELANOMA	-	-	-	-	GLB1	ENST00000445488,p.P561S|ENST00000307377,p.P382S|ENST00000307363,p.P513S|ENST00000399402,p.P483S|uc011axk.1,p.P561S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011axk.1	nonsynonymous SNV	exon16	c.C1681T	p.P561S	LSSNILTDWTIFPLDTEDAVCSHLG	LSSNILTDWTIFSLDTEDAVCSHLG	10.0	2.0	unscreened	-	3881_3:33055745-33055745 G>A_LSSNILTDWTIFSLDTEDAVCSHLG
11:32954375-32954375 C>T	1.0	3881	MELANOMA	-	-	-	-	QSER1	uc001mty.3,p.S395L|NM_001076786,p.S395L|ENST00000399302,p.S395L	retained_intron, protein_coding, processed_transcript	uc001mty.3	nonsynonymous SNV	exon4	c.C1184T	p.S395L	QTVTPENQTLNYSSNQQEVLSSVTN	QTVTPENQTLNYLSNQQEVLSSVTN	8.0	5.0	unscreened	-	3881_11:32954375-32954375 C>T_QTVTPENQTLNYLSNQQEVLSSVTN
11:9495526-9495526 G>A	1.0	3881	MELANOMA	-	-	-	-	ZNF143	ENST00000412390,p.D82N|ENST00000533542,p.D51N|ENST00000526657,p.D82N|ENST00000530463,p.D82N|ENST00000396597,p.D51N|NM_001282657,p.D51N|NM_001282656,p.D82N|uc001mhr.3,p.D82N|uc009yfu.3,p.D82N|NM_003442,p.D82N|ENST00000534265,p.D82N|ENST00000438144,p.D82N|ENST00000531943,p.D82N|ENST00000532577,p.D82N|ENST00000396602,p.D82N|ENST00000299606,p.D82N|uc010rby.2,p.D51N|ENST00000396604,p.D82N	retained_intron, protein_coding, nonsense_mediated_decay	uc010rby.2	nonsynonymous SNV	exon3	c.G151A	p.D51N	AKLIDGQVIQLEDGSAAYVQHVPIP	AKLIDGQVIQLENGSAAYVQHVPIP	8.0	5.0	unscreened	-	3881_11:9495526-9495526 G>A_AKLIDGQVIQLENGSAAYVQHVPIP
2:1658238-1658238 G>A	0.0	3881	MELANOMA	-	-	-	-	PXDN	ENST00000252804,p.S627F|uc002qxb.1,p.S627F|uc002qxa.3,p.S627F|NM_012293,p.S627F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qxb.1	nonsynonymous SNV	exon15	c.C1880T	p.S627F	DVSRNGDPFVATSIVEAIATVDRAI	DVSRNGDPFVATFIVEAIATVDRAI	7.0	4.0	unscreened	-	3881_2:1658238-1658238 G>A_DVSRNGDPFVATFIVEAIATVDRAI
6:30595430-30595430 T>-	0.0	3881	MELANOMA	-	-	-	-	ATAT1	uc003nqs.4,p.A62fs|ENST00000329992,p.A62fs|ENST00000318999,p.A62fs|uc003nqv.3,p.A50fs|ENST00000376483,p.A62fs|uc003rdc.3,p.A62fs|uc003nqr.4,p.A62fs|NM_001031722,p.A50fs|uc011dmm.2,p.A50fs|ENST00000319027,p.A62fs|ENST00000330083,p.A50fs|NM_024909,p.A62fs|NM_001254952,p.A62fs|ENST00000376485,p.A62fs|ENST00000376478,p.A62fs|uc003rdd.3,p.A62fs	retained_intron, protein_coding, processed_transcript	uc011dmm.2	frameshift deletion	exon3	c.150delT	p.A50fs	LGKASAKAQNLSAPITSASRMQSNR	LGKASAKAQNLSALSLVHQGCRVTAMLFIFSKTVQPDRLEKEPLLVSSKLDTRSSLYWMIVRLIMR	9.0	1.0	unscreened	-	3881_6:30595430-30595430 T>-_LGKASAKAQNLSALSLVHQGCRVTAMLFIFSKTVQPDRLEKEPLLVSSKLDTRSSLYWMIVRLIMR
10:52071118-52071118 C>T	1.0	3881	MELANOMA	-	-	-	-	SGMS1	uc001jje.3,p.G267S|uc010qhk.2,p.G98S|ENST00000429490,p.G98S|NM_147156,p.G267S|ENST00000361781,p.G267S	protein_coding, processed_transcript	uc010qhk.2	nonsynonymous SNV	exon3	c.G292A	p.G98S	QLRRIMKLIAGGGLSITGSHNMCGD	QLRRIMKLIAGGSLSITGSHNMCGD	7.0	8.0	unscreened	-	3881_10:52071118-52071118 C>T_QLRRIMKLIAGGSLSITGSHNMCGD
11:57428246-57428246 C>T	1.0	3881	MELANOMA	-	-	ID=COSM1718427;OCCURENCE=2(NS)	2	CLP1	uc001nkw.3,p.R206C|ENST00000525602,p.R206C|ENST00000529430,p.R217C|uc009yml.3,p.R206C|NM_006831,p.R206C|ENST00000533682,p.R206C	protein_coding	uc009yml.3	nonsynonymous SNV	exon3	c.C616T	p.R206C	GTNIKLYNKITSRLADVFNQRCEVN	GTNIKLYNKITSCLADVFNQRCEVN	6.0	7.0	unscreened	-	3881_11:57428246-57428246 C>T_GTNIKLYNKITSCLADVFNQRCEVN
5:140799386-140799386 C>T	0.0	3881	MELANOMA	-	-	-	-	PCDHGB7	uc003lkn.2,p.L654F|NM_018927,p.L654F|ENST00000398594,p.L654F|uc003lkm.3,p.L654F|NM_032101,p.L654F	protein_coding	uc003lkn.2	nonsynonymous SNV	exon1	c.C1960T	p.L654F	LLVAVRDGGQPPLSATATLHLVFAD	LLVAVRDGGQPPFSATATLHLVFAD	7.0	8.0	unscreened	-	3881_5:140799386-140799386 C>T_LLVAVRDGGQPPFSATATLHLVFAD
12:110765737-110765737 C>T	1.0	3881	MELANOMA	-	-	-	-	ATP2A2	uc001tql.4,p.P337L|NM_001681,p.P337L|NM_170665,p.P337L|ENST00000308664,p.P337L|ENST00000539276,p.P337L|uc001tqk.4,p.P337L|ENST00000395494,p.P310L|uc021rdt.1,p.P185L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rdt.1	nonsynonymous SNV	exon4	c.C554T	p.P185L	RMAKKNAIVRSLPSVETLGCTSVIC	RMAKKNAIVRSLLSVETLGCTSVIC	10.0	3.0	unscreened	-	3881_12:110765737-110765737 C>T_RMAKKNAIVRSLLSVETLGCTSVIC
5:140564302-140564302 G>A	1.0	3881	MELANOMA	-	-	-	-	PCDHB16	NM_020957,p.G723D|ENST00000361016,p.G723D|uc003liv.3,p.G723D	protein_coding	uc003liv.3	nonsynonymous SNV	exon1	c.G2168A	p.G723D	VRLCRRSRAASVGRCSMPEGPFPGR	VRLCRRSRAASVDRCSMPEGPFPGR	7.0	8.0	unscreened	-	3881_5:140564302-140564302 G>A_VRLCRRSRAASVDRCSMPEGPFPGR
11:57428246-57428246 C>T	1.0	3881	MELANOMA	-	-	ID=COSM1718427;OCCURENCE=2(NS)	2	CLP1	NM_001142597,p.R142C|ENST00000302731,p.R142C|uc010rjw.2,p.R142C	protein_coding	uc010rjw.2	nonsynonymous SNV	exon3	c.C424T	p.R142C	VCRLLLNYAITSRLADVFNQRCEVN	VCRLLLNYAITSCLADVFNQRCEVN	6.0	7.0	unscreened	-	3881_11:57428246-57428246 C>T_VCRLLLNYAITSCLADVFNQRCEVN
X:69626770-69626770 T>C	1.0	3881	MELANOMA	-	-	-	-	KIF4A	uc010nkw.3,p.F1034L|ENST00000374403,p.F1034L|NM_012310,p.F1034L|uc004dyg.3,p.F1034L|ENST00000374388,p.F1034L	protein_coding, processed_transcript	uc010nkw.3	nonsynonymous SNV	exon27	c.T3100C	p.F1034L	PPKPKPSRVKEKFLEQSMDIEDLKY	PPKPKPSRVKEKLLEQSMDIEDLKY	6.0	6.0	unscreened	-	3881_X:69626770-69626770 T>C_PPKPKPSRVKEKLLEQSMDIEDLKY
3:127387411-127387411 A>G	1.0	3881	MELANOMA	-	-	-	-	PODXL2	NM_015720,p.H445R|ENST00000342480,p.H445R|uc003ejq.3,p.H445R	protein_coding	uc003ejq.3	nonsynonymous SNV	exon5	c.A1334G	p.H445R	HISLSKPSEKEQHLLMTLVGEQGVV	HISLSKPSEKEQRLLMTLVGEQGVV	6.0	10.0	-	-	3881_3:127387411-127387411 A>G_HISLSKPSEKEQRLLMTLVGEQGVV
7:73927289-73927289 C>T	1.0	3881	MELANOMA	-	-	ID=COSM4149340;OCCURENCE=1(ovary)	-	GTF2IRD1	ENST00000476977,p.L85F|uc003uap.3,p.L85F|uc003uaq.3,p.L85F|NM_005685,p.L85F|ENST00000265755,p.L85F|NM_016328,p.L85F|ENST00000424337,p.L85F|uc003uar.1,p.L85F	retained_intron, protein_coding, processed_transcript	uc003uar.1	nonsynonymous SNV	exon3	c.C253T	p.L85F	FLNARKELQSDFLRFCRGPPWKDPE	FLNARKELQSDFFRFCRGPPWKDPE	6.0	3.0	unscreened	-	3881_7:73927289-73927289 C>T_FLNARKELQSDFFRFCRGPPWKDPE
19:47725002-47725002 G>A	1.0	3881	MELANOMA	-	-	-	-	BBC3	uc010xyl.2,p.P248S|NM_001127242,p.P88S|ENST00000449228,p.P248S|ENST00000300880,p.P88S|NM_001127240,p.P248S|uc010ekz.3,p.P88S	retained_intron, protein_coding	uc010xyl.2	nonsynonymous SNV	exon4	c.C742T	p.P248S	DVRDSGGRPLPPPDTLASAGDFLCT	DVRDSGGRPLPPSDTLASAGDFLCT	6.0	2.0	unscreened	-	3881_19:47725002-47725002 G>A_DVRDSGGRPLPPSDTLASAGDFLCT
17:4074090-4074090 G>A	1.0	3881	MELANOMA	-	-	ID=COSM1521509;OCCURENCE=1(lung)	-	ANKFY1	uc002fxn.3,p.R1111C|uc010ckp.3,p.R1011C|NM_001257999,p.R1111C|ENST00000570535,p.R1111C|ENST00000574367,p.R1070C|uc002fxo.3,p.R1070C|NM_016376,p.R1070C|uc002fxq.1,p.R1069C|ENST00000341657,p.R1069C|uc002fxp.3,p.R1068C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ckp.3	nonsynonymous SNV	exon22	c.C3031T	p.R1011C	ANLCRAIVRSGARLGVNNNQGVNIF	ANLCRAIVRSGACLGVNNNQGVNIF	9.0	4.0	unscreened	-	3881_17:4074090-4074090 G>A_ANLCRAIVRSGACLGVNNNQGVNIF
7:82582666-82582666 C>T	0.0	3881	MELANOMA	-	-	-	-	PCLO	NM_014510,p.G2535S|ENST00000423517,p.G2535S|uc003uhv.2,p.G2535S|NM_033026,p.G2535S|uc003uhx.2,p.G2535S|ENST00000333891,p.G2535S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G7603A	p.G2535S	TQKPTDIHPKPTGLSLTSSMTLNLV	TQKPTDIHPKPTSLSLTSSMTLNLV	6.0	4.0	unscreened	-	3881_7:82582666-82582666 C>T_TQKPTDIHPKPTSLSLTSSMTLNLV
11:119005126-119005126 C>T	1.0	3881	MELANOMA	-	-	-	-	HINFP	uc001pvr.3,p.P244L|NM_015517,p.P491L|uc001pvp.3,p.P491L|uc001pvq.3,p.P491L|ENST00000350777,p.P491L|NM_198971,p.P491L	retained_intron, protein_coding, processed_transcript	uc001pvr.3	nonsynonymous SNV	exon5	c.C731T	p.P244L	VYYVLSEAPGEPPPAPEPPSGGIME	VYYVLSEAPGEPLPAPEPPSGGIME	9.0	6.0	unscreened	-	3881_11:119005126-119005126 C>T_VYYVLSEAPGEPLPAPEPPSGGIME
11:17122977-17122977 G>A	1.0	3881	MELANOMA	0.0005	-	-	-	PIK3C2A	uc010rcw.2,p.R906W|NM_002645,p.R1286W|ENST00000265970,p.R1286W|ENST00000540361,p.R906W|uc001mmq.4,p.R1286W	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rcw.2	nonsynonymous SNV	exon24	c.C2716T	p.R906W	GHAQMFGSFKRDRAPFVLTSDMAYV	GHAQMFGSFKRDWAPFVLTSDMAYV	10.0	7.0	unscreened	-	3881_11:17122977-17122977 G>A_GHAQMFGSFKRDWAPFVLTSDMAYV
14:105246433-105246433 G>A	1.0	3881	MELANOMA	-	-	-	1	AKT1	NM_005163,p.S56F|NM_001014431,p.S56F|uc001ypl.3,p.S56F|uc001ypk.3,p.S56F|uc001ypm.3,p.S56F|ENST00000554581,p.S56F|uc010axa.3,p.S56F|ENST00000554848,p.S56F|ENST00000402615,p.S56F|ENST00000349310,p.S56F|NM_001014432,p.S56F|ENST00000555528,p.S56F|ENST00000555926,p.S56F|uc001ypn.3,p.S56F|ENST00000407796,p.S56F	retained_intron, protein_coding, processed_transcript	uc010axa.3	nonsynonymous SNV	exon3	c.C167T	p.S56F	DVDQREAPLNNFSVAQCQLMKTERP	DVDQREAPLNNFFVAQCQLMKTERP	9.0	2.0	unscreened	-	3881_14:105246433-105246433 G>A_DVDQREAPLNNFFVAQCQLMKTERP
8:99161230-99161230 C>T	1.0	3881	MELANOMA	-	-	-	-	POP1	NM_015029,p.P633L|ENST00000349693,p.P633L|ENST00000401707,p.P633L|uc003yik.3,p.P633L|uc003yij.4,p.P633L|NM_001145861,p.P633L|uc011lgv.2,p.P633L|NM_001145860,p.P633L	retained_intron, protein_coding	uc011lgv.2	nonsynonymous SNV	exon13	c.C1898T	p.P633L	LLPKGWGMAFWIPFIYRGVRVGGLK	LLPKGWGMAFWILFIYRGVRVGGLK	6.0	4.0	unscreened	-	3881_8:99161230-99161230 C>T_LLPKGWGMAFWILFIYRGVRVGGLK
15:100594139-100594139 G>A	1.0	3881	MELANOMA	-	-	-	-	ADAMTS17	ENST00000268070,p.S753F|NM_139057,p.S753F|uc002bvv.1,p.S753F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bvv.1	nonsynonymous SNV	exon16	c.C2258T	p.S753F	VRYVRRGLWEKISAKGPTKLPLHLM	VRYVRRGLWEKIFAKGPTKLPLHLM	8.0	2.0	unscreened	-	3881_15:100594139-100594139 G>A_VRYVRRGLWEKIFAKGPTKLPLHLM
1:27216562-27216562 G>A	1.0	3881	MELANOMA	-	-	-	-	GPN2	ENST00000431781,p.A9V|NM_018066,p.A9V|ENST00000374135,p.A9V|uc001bnd.1,p.A9V	protein_coding, processed_transcript	uc001bnd.1	nonsynonymous SNV	exon1	c.C26T	p.A9V	MAGAAPTTAFGQAVIGPPGSG	MAGAAPTTVFGQAVIGPPGSG	7.0	4.0	unscreened	-	3881_1:27216562-27216562 G>A_MAGAAPTTVFGQAVIGPPGSG
17:1386228-1386228 G>A	1.0	3881	MELANOMA	-	-	-	-	MYO1C	NM_001080950,p.A139V|ENST00000570984,p.A123V|NM_033375,p.A123V|ENST00000361007,p.A123V|uc010vqj.1,p.A123V|ENST00000575335,p.A123V|NM_001080779,p.A158V|uc002fsn.3,p.A139V|ENST00000575158,p.A123V|ENST00000574790,p.A123V|ENST00000570490,p.A136V|ENST00000545534,p.A134V|uc010vqk.1,p.A134V|uc002fso.3,p.A123V|uc002fsp.3,p.A158V|ENST00000438665,p.A139V|ENST00000573853,p.A123V|ENST00000359786,p.A158V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vqk.1	nonsynonymous SNV	exon4	c.C401T	p.A134V	KTEATKRLLQFYAETCPAPERGGAV	KTEATKRLLQFYVETCPAPERGGAV	9.0	3.0	unscreened	-	3881_17:1386228-1386228 G>A_KTEATKRLLQFYVETCPAPERGGAV
17:4903581-4903581 C>T	1.0	3881	MELANOMA	-	-	-	-	KIF1C	uc002gan.2,p.P14S|ENST00000320785,p.P14S|ENST00000574165,p.P14S|NM_006612,p.P14S	retained_intron, protein_coding, processed_transcript	uc002gan.2	nonsynonymous SNV	exon3	c.C40T	p.P14S	AGASVKVAVRVRPFNARETSQDAKC	AGASVKVAVRVRSFNARETSQDAKC	9.0	9.0	-	-	3881_17:4903581-4903581 C>T_AGASVKVAVRVRSFNARETSQDAKC
X:107840713-107840713 C>T	1.0	3881	MELANOMA	-	-	-	-	COL4A5	uc022ccg.2,p.S565F|ENST00000361603,p.S565F|uc004enz.2,p.S565F|ENST00000328300,p.S565F|NM_000495,p.S565F|uc004eob.1,p.S173F	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon24	c.C1694T	p.S565F	FPGMKGDKGELGSPGAPGLPGLPGT	FPGMKGDKGELGFPGAPGLPGLPGT	8.0	7.0	unscreened	-	3881_X:107840713-107840713 C>T_FPGMKGDKGELGFPGAPGLPGLPGT
8:97258141-97258141 G>A	1.0	3881	MELANOMA	-	-	-	-	MTERF3	ENST00000287025,p.R282C|NM_015942,p.R282C|uc003yhs.1,p.R282C|uc003yhr.1,p.R161C|uc010mbd.1,p.R282C|ENST00000522822,p.R161C|ENST00000523821,p.R282C|ENST00000524341,p.R92C|NM_001286643,p.R282C	protein_coding	uc010mbd.1	nonsynonymous SNV	exon6	c.C844T	p.R282C	ELSVKKTRDLVVRLPRLLTGSLEPV	ELSVKKTRDLVVCLPRLLTGSLEPV	9.0	2.0	unscreened	-	3881_8:97258141-97258141 G>A_ELSVKKTRDLVVCLPRLLTGSLEPV
3:183899704-183899704 C>T	1.0	3881	MELANOMA	-	-	-	-	AP2M1	ENST00000439647,p.R276C|ENST00000292807,p.R278C|NM_001025205,p.R276C|ENST00000382456,p.R276C|ENST00000411763,p.R303C|uc011bqz.2,p.R94C|uc021xig.1,p.R278C|uc003fmw.3,p.R276C|uc011bqy.2,p.R148C|ENST00000432591,p.R207C	retained_intron, protein_coding, processed_transcript	uc021xig.1	nonsynonymous SNV	exon8	c.C832T	p.R278C	IPPDGEFELMRYRTTKDIILPFRVI	IPPDGEFELMRYCTTKDIILPFRVI	10.0	8.0	-	-	3881_3:183899704-183899704 C>T_IPPDGEFELMRYCTTKDIILPFRVI
X:154299923-154299923 G>A	1.0	3881	MELANOMA	-	-	-	-	BRCC3	NM_001242640,p.E41K|ENST00000340647,p.E41K|uc011mzy.2,p.E41K	protein_coding, nonsense_mediated_decay	uc011mzy.2	nonsynonymous SNV	exon1	c.G121A	p.E41K	TEKEEVMGLCIGELNDDTSRSDSKF	TEKEEVMGLCIGKLNDDTSRSDSKF	8.0	6.0	unscreened	-	3881_X:154299923-154299923 G>A_TEKEEVMGLCIGKLNDDTSRSDSKF
4:3182365-3182365 T>A	1.0	3881	MELANOMA	-	-	-	-	HTT	ENST00000355072,p.I1579N	retained_intron, protein_coding, processed_transcript	ENST00000355072	nonsynonymous SNV	exon36	c.T4736A	p.I1579N	QKEVVVSMLLRLIQYHQVLEMFILV	QKEVVVSMLLRLNQYHQVLEMFILV	9.0	10.0	-	-	3881_4:3182365-3182365 T>A_QKEVVVSMLLRLNQYHQVLEMFILV
1:35579689-35579689 C>T	1.0	3881	MELANOMA	-	-	-	-	ZMYM1	uc009vut.3,p.S678L|NM_001289091,p.S393L|NM_001289088,p.S753L|uc001bym.3,p.S753L|uc001byn.3,p.S753L|ENST00000373330,p.S753L|ENST00000359858,p.S753L|uc010ohu.2,p.S734L|NM_001289090,p.S753L|uc001byo.3,p.S393L|NM_001289089,p.S734L|NM_024772,p.S753L	protein_coding, processed_transcript	uc010ohu.2	nonsynonymous SNV	exon10	c.C2201T	p.S734L	LYIHCYAHFLDLSIIRFCKEVKELR	LYIHCYAHFLDLLIIRFCKEVKELR	8.0	7.0	unscreened	-	3881_1:35579689-35579689 C>T_LYIHCYAHFLDLLIIRFCKEVKELR
11:14480134-14480134 G>A	1.0	3881	MELANOMA	-	-	-	-	COPB1	uc001mlg.2,p.H916Y|uc001mli.2,p.H916Y|NM_001144061,p.H916Y|uc001mlh.2,p.H916Y|ENST00000439561,p.H916Y|ENST00000249923,p.H916Y|NM_016451,p.H916Y|NM_001144062,p.H916Y	protein_coding, processed_transcript	uc001mli.2	nonsynonymous SNV	exon21	c.C2746T	p.H916Y	DALANVSIEKPIHQGPDAAVTGHIR	DALANVSIEKPIYQGPDAAVTGHIR	10.0	5.0	unscreened	-	3881_11:14480134-14480134 G>A_DALANVSIEKPIYQGPDAAVTGHIR
20:61834922-61834922 G>A	1.0	3881	MELANOMA	-	-	-	-	YTHDF1	ENST00000370333,p.P74S|ENST00000370339,p.P124S|uc011aaq.2,p.P74S|uc002yeh.3,p.P124S|NM_017798,p.P124S	protein_coding	uc011aaq.2	nonsynonymous SNV	exon2	c.C220T	p.P74S	GNNIYQHRFNFFPENPAFSAWGTSG	GNNIYQHRFNFFSENPAFSAWGTSG	9.0	3.0	unscreened	-	3881_20:61834922-61834922 G>A_GNNIYQHRFNFFSENPAFSAWGTSG
7:64167961-64167961 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF107	NM_001282360,p.L464F|NM_001282359,p.L496F|NM_001013746,p.L427F|ENST00000344930,p.L427F|uc003tte.3,p.L427F|ENST00000395391,p.L427F|NM_016220,p.L427F|uc003ttd.3,p.L427F|ENST00000423627,p.L427F	protein_coding	uc003tte.3	nonsynonymous SNV	exon5	c.C1279T	p.L427F	EECGKAFNRSSTLTRHKKIHTGEKP	EECGKAFNRSSTFTRHKKIHTGEKP	6.0	9.0	-	-	3881_7:64167961-64167961 C>T_EECGKAFNRSSTFTRHKKIHTGEKP
6:121577361-121577361 C>T	1.0	3881	MELANOMA	-	-	-	-	TBC1D32	NM_152730,p.G602R|uc003pyp.1,p.G121R|ENST00000275159,p.G602R|ENST00000398212,p.G602R|uc003pyo.1,p.G602R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pyp.1	nonsynonymous SNV	exon5	c.G361A	p.G121R	KKLLDEDISIFSGSEMLPVVKGAFI	KKLLDEDISIFSRSEMLPVVKGAFI	6.0	10.0	unscreened	-	3881_6:121577361-121577361 C>T_KKLLDEDISIFSRSEMLPVVKGAFI
12:120597650-120597650 G>A	1.0	3881	MELANOMA	-	-	-	-	GCN1L1	ENST00000300648,p.P910S|uc001txo.3,p.P910S|NM_006836,p.P910S	retained_intron, protein_coding	uc001txo.3	nonsynonymous SNV	exon24	c.C2728T	p.P910S	KNPFLSLAACVMPSRLKALGTLVSH	KNPFLSLAACVMSSRLKALGTLVSH	10.0	6.0	unscreened	-	3881_12:120597650-120597650 G>A_KNPFLSLAACVMSSRLKALGTLVSH
18:21119931-21119931 C>T	1.0	3881	MELANOMA	-	-	-	-	NPC1	uc002kum.4,p.S880N|uc010xaz.2,p.S613N|NM_000271,p.S880N|uc010xba.1,p.S725N|ENST00000269228,p.S880N|ENST00000412552,p.S562N	retained_intron, protein_coding, processed_transcript	uc010xba.1	nonsynonymous SNV	exon16	c.G2174A	p.S725N	DDSYMVDYFKSISQYLHAGPPVYFV	DDSYMVDYFKSINQYLHAGPPVYFV	9.0	4.0	unscreened	-	3881_18:21119931-21119931 C>T_DDSYMVDYFKSINQYLHAGPPVYFV
17:7578550-7578550 G>A	1.0	3881	MELANOMA	-	-	ID=COSM216414,COSM3378368,COSM44226,COSM216412,COSM216413,COSM1637542;OCCURENCE=5(ovary),2(small_intestine),6(skin),3(large_intestine),1(biliary_tract),1(urinary_tract),3(pancreas),1(stomach),3(central_nervous_system),2(oesophagus),2(upper_aerodigestive_tract),1(bone),1(thyroid),1(lung)	1	TP53	uc002gin.3,p.S34F|ENST00000514944,p.S34F	retained_intron, protein_coding, processed_transcript	uc002gin.3	nonsynonymous SNV	exon4	c.C101T	p.S34F	LWKLLPENNVLYSPALNKMFCQLAK	LWKLLPENNVLYFPALNKMFCQLAK	9.0	3.0	unscreened	-	3881_17:7578550-7578550 G>A_LWKLLPENNVLYFPALNKMFCQLAK
20:36031649-36031649 C>T	1.0	3881	MELANOMA	-	-	-	1	SRC	uc002xgx.3,p.S493F|NM_198291,p.S493F|ENST00000373578,p.S493F|ENST00000358208,p.S493F|ENST00000373567,p.S493F|ENST00000373558,p.S499F|ENST00000360723,p.S499F|uc002xgy.3,p.S493F|ENST00000445403,p.S493F|NM_005417,p.S493F	retained_intron, protein_coding, processed_transcript	uc002xgy.3	nonsynonymous SNV	exon14	c.C1478T	p.S493F	GYRMPCPPECPESLHDLMCQCWRKE	GYRMPCPPECPEFLHDLMCQCWRKE	9.0	3.0	unscreened	-	3881_20:36031649-36031649 C>T_GYRMPCPPECPEFLHDLMCQCWRKE
5:140720178-140720178 C>T	1.0	3881	MELANOMA	-	-	-	-	PCDHGA2	uc011dao.2,p.S547L|ENST00000394576,p.S547L|NM_018915,p.S547L|uc003ljk.2,p.S547L|NM_032009,p.S547L	retained_intron, protein_coding	uc011dao.2	nonsynonymous SNV	exon1	c.C1640T	p.S547L	RDSGNPPLSSNVSLSLFVLDQNDNA	RDSGNPPLSSNVLLSLFVLDQNDNA	6.0	9.0	-	-	3881_5:140720178-140720178 C>T_RDSGNPPLSSNVLLSLFVLDQNDNA
8:27289811-27289811 C>T	1.0	3881	MELANOMA	-	-	-	-	PTK2B	ENST00000397501,p.S307F|ENST00000338238,p.S307F|ENST00000517339,p.S307F|uc003xfp.2,p.S307F|uc022ate.1,p.S307F|ENST00000544172,p.S307F|NM_173175,p.S307F|NM_173174,p.S307F|uc003xfr.1,p.S53F|uc003xfq.2,p.S307F|ENST00000397497,p.S53F|NM_173176,p.S307F|uc003xfn.2,p.S307F|ENST00000346049,p.S307F|ENST00000420218,p.S307F|NM_004103,p.S307F|uc010luq.1,p.S78F	retained_intron, protein_coding, processed_transcript	uc022ate.1	nonsynonymous SNV	exon11	c.C920T	p.S307F	KPTCLAEFKQIRSIRCLPLEEGQAV	KPTCLAEFKQIRFIRCLPLEEGQAV	6.0	7.0	unscreened	-	3881_8:27289811-27289811 C>T_KPTCLAEFKQIRFIRCLPLEEGQAV
3:4735421-4735421 C>T	1.0	3881	MELANOMA	-	-	-	-	ITPR1	uc003bqc.3,p.P1411L|uc021wsi.1,p.P1417L|NM_001099952,p.P1417L|ENST00000423119,p.P1417L|ENST00000443694,p.P1411L|NM_002222,p.P1402L|ENST00000302640,p.P1411L|NM_001168272,p.P1411L|ENST00000354582,p.P1426L|ENST00000456211,p.P1402L|ENST00000357086,p.P1417L|uc021wsj.1,p.P1402L	retained_intron, protein_coding, processed_transcript	uc021wsj.1	nonsynonymous SNV	exon32	c.C4205T	p.P1402L	DIVRVVTHEDCIPEVKIAYINFLNH	DIVRVVTHEDCILEVKIAYINFLNH	7.0	3.0	unscreened	-	3881_3:4735421-4735421 C>T_DIVRVVTHEDCILEVKIAYINFLNH
11:6415712-6415712 C>T	1.0	3881	MELANOMA	-	-	-	-	SMPD1	NM_001007593,p.R590C|ENST00000342245,p.R591C|NM_000543,p.R591C|ENST00000299397,p.R547C|uc009yew.3,p.R590C|ENST00000356761,p.R535C|ENST00000527275,p.R590C|uc001mcw.3,p.R591C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yew.3	nonsynonymous SNV	exon6	c.C1768T	p.R590C	GHPPSEPCGTPCRLATLCAQLSARA	GHPPSEPCGTPCCLATLCAQLSARA	7.0	8.0	unscreened	-	3881_11:6415712-6415712 C>T_GHPPSEPCGTPCCLATLCAQLSARA
1:113635860-113635860 C>T	1.0	3881	MELANOMA	-	-	-	-	LRIG2	ENST00000361127,p.P113L|NM_014813,p.P113L|uc001edf.1,p.P113L	protein_coding, processed_transcript	uc001edf.1	nonsynonymous SNV	exon3	c.C338T	p.P113L	EVKMNYNELTEIPYFGEPTSNITLL	EVKMNYNELTEILYFGEPTSNITLL	7.0	10.0	-	-	3881_1:113635860-113635860 C>T_EVKMNYNELTEILYFGEPTSNITLL
17:73759122-73759122 T>C	1.0	3881	MELANOMA	-	-	-	-	GALK1	ENST00000592997,p.K17R	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000592997	nonsynonymous SNV	exon1	c.A50G	p.K17R	GIMDQFISLMGQKGHALLIDCSEYP	GIMDQFISLMGQRGHALLIDCSEYP	6.0	3.0	unscreened	-	3881_17:73759122-73759122 T>C_GIMDQFISLMGQRGHALLIDCSEYP
22:51044114-51044114 C>T	1.0	3881	MELANOMA	-	-	ID=COSM50294;OCCURENCE=1(large_intestine)	-	MAPK8IP2	ENST00000442429,p.P378S|ENST00000008876,p.P361S|ENST00000329492,p.P655S|ENST00000341339,p.P276S|ENST00000399908,p.P390S|ENST00000399912,p.P390S	protein_coding	ENST00000442429	nonsynonymous SNV	exon9	c.C1132T	p.P378S	GFNMRTGERGVFPAFYAHAVPGPAK	GFNMRTGERGVFSAFYAHAVPGPAK	5.0	2.0	unscreened	-	3881_22:51044114-51044114 C>T_GFNMRTGERGVFSAFYAHAVPGPAK
6:131201339-131201339 G>A	1.0	3881	MELANOMA	-	-	ID=COSM1697980;OCCURENCE=1(skin)	-	EPB41L2	uc003qch.2,p.S614F|ENST00000368128,p.S614F|ENST00000337057,p.S614F|NM_001431,p.S614F	retained_intron, protein_coding, processed_transcript	uc003qch.2	nonsynonymous SNV	exon13	c.C1841T	p.S614F	APHLQLIEGKKNSLRVEGDNIYVRH	APHLQLIEGKKNFLRVEGDNIYVRH	9.0	10.0	-	-	3881_6:131201339-131201339 G>A_APHLQLIEGKKNFLRVEGDNIYVRH
20:60902350-60902350 G>A	0.0	3881	MELANOMA	-	-	-	-	LAMA5	ENST00000252999,p.A1684V|NM_005560,p.A1684V|uc021wfw.1,p.A1684V|uc002ycq.3,p.A1684V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wfw.1	nonsynonymous SNV	exon38	c.C5051T	p.A1684V	EMLRADLRHVPEAVPEAFPELYWQA	EMLRADLRHVPEVVPEAFPELYWQA	8.0	9.0	unscreened	-	3881_20:60902350-60902350 G>A_EMLRADLRHVPEVVPEAFPELYWQA
17:73759122-73759122 T>C	1.0	3881	MELANOMA	-	-	-	-	GALK1	ENST00000588479,p.K195R|ENST00000225614,p.K195R|uc002jpk.3,p.K195R|NM_000154,p.K195R|ENST00000437911,p.K225R	retained_intron, protein_coding, nonsense_mediated_decay	uc002jpk.3	nonsynonymous SNV	exon4	c.A584G	p.K195R	GIMDQFISLMGQKGHALLIDCRSLE	GIMDQFISLMGQRGHALLIDCRSLE	6.0	3.0	unscreened	-	3881_17:73759122-73759122 T>C_GIMDQFISLMGQRGHALLIDCRSLE
3:142403157-142403157 G>A	1.0	3881	MELANOMA	-	-	-	-	PLS1	ENST00000476044,p.E191K|NM_001145319,p.E270K|NM_002670,p.E270K|NM_001172312,p.E270K|uc003eva.3,p.E270K|ENST00000337777,p.E270K|uc003euz.3,p.E270K|ENST00000457734,p.E270K|uc010huv.3,p.E270K|ENST00000497002,p.E270K	retained_intron, protein_coding	uc010huv.3	nonsynonymous SNV	exon8	c.G808A	p.E270K	EELEELMKLSPEELLLRWVNYHLTN	EELEELMKLSPEKLLLRWVNYHLTN	6.0	3.0	unscreened	-	3881_3:142403157-142403157 G>A_EELEELMKLSPEKLLLRWVNYHLTN
2:42472705-42472705 C>T	1.0	3881	MELANOMA	-	-	-	1	EML4	ENST00000318522,p.S29L|NM_019063,p.S29L|uc002rsi.3,p.S29L|NM_001145076,p.S29L|ENST00000402711,p.S29L|uc010fap.3,p.S29L|ENST00000401738,p.S29L|uc002rsh.4,p.S29L	retained_intron, protein_coding, processed_transcript	uc010fap.3	nonsynonymous SNV	exon2	c.C86T	p.S29L	TSDVQDRLSALESRVQQQEDEITVL	TSDVQDRLSALELRVQQQEDEITVL	8.0	2.0	unscreened	-	3881_2:42472705-42472705 C>T_TSDVQDRLSALELRVQQQEDEITVL
14:74346827-74346827 C>T	1.0	3881	MELANOMA	-	-	-	-	PTGR2	ENST00000556551,p.P197S|NM_001146155,p.P267S|ENST00000554885,p.P218S|uc010tue.2,p.P267S|uc001xox.3,p.P267S|NM_152444,p.P267S|ENST00000267568,p.P267S|uc001xow.3,p.P267S|NM_001146154,p.P267S|ENST00000555661,p.P267S|ENST00000555228,p.P267S|ENST00000553813,p.P133S	 protein_coding, processed_transcript,retained_intron	uc010tue.2	nonsynonymous SNV	exon7	c.C799T	p.P267S	QISQYNKDVPYPPPLSPAIEAIQKE	QISQYNKDVPYPSPLSPAIEAIQKE	8.0	9.0	-	-	3881_14:74346827-74346827 C>T_QISQYNKDVPYPSPLSPAIEAIQKE
18:21329482-21329482 C>T	1.0	3881	MELANOMA	-	-	-	-	LAMA3	NM_001127717,p.S219F|ENST00000585600,p.S219F|ENST00000313654,p.S219F|uc002kuq.3,p.S219F|NM_198129,p.S219F|ENST00000399516,p.S219F|uc002kur.3,p.S219F|uc010dlv.2,p.S219F	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010dlv.2	nonsynonymous SNV	exon4	c.C656T	p.S219F	TRDDDVLCVTEYSRIVPLENGEVVV	TRDDDVLCVTEYFRIVPLENGEVVV	5.0	3.0	unscreened	-	3881_18:21329482-21329482 C>T_TRDDDVLCVTEYFRIVPLENGEVVV
3:93598104-93598104 G>A	1.0	3881	MELANOMA	-	-	-	-	PROS1	ENST00000394236,p.P516L|ENST00000407433,p.P385L|uc003drb.4,p.P516L|NM_000313,p.P516L|uc003dqz.4,p.P385L|uc010hoo.3,p.P385L	retained_intron, protein_coding	uc010hoo.3	nonsynonymous SNV	exon12	c.C1154T	p.P385L	EGWHVNVTLNIRPSTGTGVMLALVS	EGWHVNVTLNIRLSTGTGVMLALVS	7.0	10.0	-	-	3881_3:93598104-93598104 G>A_EGWHVNVTLNIRLSTGTGVMLALVS
17:38548870-38548870 G>A	1.0	3881	MELANOMA	-	-	-	-	TOP2A	NM_001067,p.P1311S|uc002huq.3,p.P1311S|ENST00000423485,p.P1311S	retained_intron, protein_coding	uc002huq.3	nonsynonymous SNV	exon30	c.C3931T	p.P1311S	SDRSSDESNFDVPPRETEPRRAATK	SDRSSDESNFDVSPRETEPRRAATK	10.0	5.0	unscreened	-	3881_17:38548870-38548870 G>A_SDRSSDESNFDVSPRETEPRRAATK
12:49425725-49425725 C>T	1.0	3881	MELANOMA	-	-	-	1	KMT2D	ENST00000301067,p.G4255S|uc001rta.4,p.G4255S|NM_003482,p.G4255S	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon39	c.G12763A	p.G4255S	YQEPGTQTSPLQGLLGCQPQLGGFP	YQEPGTQTSPLQSLLGCQPQLGGFP	9.0	5.0	unscreened	-	3881_12:49425725-49425725 C>T_YQEPGTQTSPLQSLLGCQPQLGGFP
15:41813031-41813031 G>A	1.0	3881	MELANOMA	-	-	-	-	RPAP1	ENST00000562303,p.S1118L|ENST00000304330,p.S1118L|NM_015540,p.S1118L|uc001zod.3,p.S1118L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zod.3	nonsynonymous SNV	exon22	c.C3353T	p.S1118L	LIRLYHRASDTPSGLSPTDTMGTAM	LIRLYHRASDTPLGLSPTDTMGTAM	7.0	10.0	-	-	3881_15:41813031-41813031 G>A_LIRLYHRASDTPLGLSPTDTMGTAM
3:183858377-183858377 C>T	1.0	3881	MELANOMA	-	-	-	-	EIF2B5	NM_003907,p.R339W|ENST00000273783,p.R339W|uc003fmp.3,p.R339W|uc003fmq.3,p.R60W|ENST00000444495,p.R339W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fmq.3	nonsynonymous SNV	exon6	c.C178T	p.R60W	FTDSTTQSCTHSRHNIYRGPEVSLG	FTDSTTQSCTHSWHNIYRGPEVSLG	9.0	2.0	unscreened	-	3881_3:183858377-183858377 C>T_FTDSTTQSCTHSWHNIYRGPEVSLG
8:133829598-133829598 C>T	1.0	3881	MELANOMA	-	-	-	-	PHF20L1	uc003ytt.3,p.H463Y|uc031tck.1,p.H333Y|ENST00000395383,p.H467Y|ENST00000395390,p.H438Y|NM_016018,p.H463Y|ENST00000395382,p.H333Y|ENST00000315808,p.H463Y|ENST00000361997,p.H438Y|ENST00000395386,p.H463Y|NM_001277196,p.H437Y|uc011lja.2,p.H437Y	retained_intron, protein_coding, nonsense_mediated_decay	uc031tck.1	nonsynonymous SNV	exon9	c.C997T	p.H333Y	QESSVPEVPDVAHLPLEKLGPCLPL	QESSVPEVPDVAYLPLEKLGPCLPL	10.0	10.0	-	-	3881_8:133829598-133829598 C>T_QESSVPEVPDVAYLPLEKLGPCLPL
14:105408194-105408194 G>A	1.0	3881	MELANOMA	-	-	-	-	AHNAK2	NM_138420,p.P4532S|uc001ypx.2,p.P4432S|uc010axc.1,p.P4532S|ENST00000333244,p.P4532S	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.C13594T	p.P4532S	LEVQAGQVDLKLPEGHMPEVAGLKG	LEVQAGQVDLKLSEGHMPEVAGLKG	9.0	7.0	unscreened	-	3881_14:105408194-105408194 G>A_LEVQAGQVDLKLSEGHMPEVAGLKG
12:988838-988838 C>T	1.0	3881	MELANOMA	-	-	-	-	WNK1	uc001qio.4,p.L825F|ENST00000315939,p.L825F|ENST00000535698,p.L95F|ENST00000340908,p.L418F|NM_018979,p.L825F|uc031qfk.1,p.L1238F|ENST00000530271,p.L1323F	retained_intron, protein_coding, processed_transcript	uc031qfk.1	nonsynonymous SNV	exon12	c.C3712T	p.L1238F	PSVVPVHSGAHFLPVGQPLPTPLLP	PSVVPVHSGAHFFPVGQPLPTPLLP	10.0	5.0	unscreened	-	3881_12:988838-988838 C>T_PSVVPVHSGAHFFPVGQPLPTPLLP
2:204045200-204045200 T>G	1.0	3881	MELANOMA	-	-	-	-	NBEAL1	ENST00000414576,p.F173C|uc002uzt.3,p.F2158C|ENST00000449802,p.F2158C|NM_001114132,p.F2158C|uc021vvj.1,p.F861C	retained_intron, protein_coding, processed_transcript	uc021vvj.1	nonsynonymous SNV	exon16	c.T2582G	p.F861C	DNPYDVKELIPEFFYFPEFLENQNQ	DNPYDVKELIPECFYFPEFLENQNQ	6.0	6.0	unscreened	-	3881_2:204045200-204045200 T>G_DNPYDVKELIPECFYFPEFLENQNQ
11:64893012-64893012 C>T	1.0	3881	MELANOMA	-	-	-	-	MRPL49	ENST00000534078,p.S44F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000534078	nonsynonymous SNV	exon2	c.C131T	p.S44F	CLTLYDALGCTTSPSTRTSRMATGR	CLTLYDALGCTTFPSTRTSRMATGR	9.0	7.0	unscreened	-	3881_11:64893012-64893012 C>T_CLTLYDALGCTTFPSTRTSRMATGR
X:70341649-70341649 C>T	0.0	3881	MELANOMA	-	-	-	1	MED12	ENST00000374080,p.L362F|uc004dyz.3,p.L362F|uc004dza.3,p.L209F|ENST00000374102,p.L362F|ENST00000430072,p.L330F|ENST00000333646,p.L362F|uc004dyy.3,p.L362F|NM_005120,p.L362F|uc011mpq.1,p.L362F	protein_coding, processed_transcript	uc011mpq.1	nonsynonymous SNV	exon7	c.C1084T	p.L362F	LMCPQHRPLVFGLSCILQTILLCCP	LMCPQHRPLVFGFSCILQTILLCCP	8.0	5.0	unscreened	-	3881_X:70341649-70341649 C>T_LMCPQHRPLVFGFSCILQTILLCCP
21:10916378-10916378 G>A	0.0	3881	MELANOMA	-	-	ID=COSM174148,COSM1592721;OCCURENCE=3(endometrium),2(large_intestine)	-	TPTE	NM_001290224,p.S285L|ENST00000342420,p.S385L|NM_199260,p.S385L|NM_199259,p.S405L|uc002yiq.1,p.S405L|ENST00000361285,p.S423L|uc002yir.1,p.S385L|uc002yip.1,p.S423L|ENST00000298232,p.S405L|uc010gkv.1,p.S285L|NM_199261,p.S423L	protein_coding, processed_transcript	uc010gkv.1	nonsynonymous SNV	exon15	c.C854T	p.S285L	RRILFIKHFIIYSIPRYVRDLKIQI	RRILFIKHFIIYLIPRYVRDLKIQI	7.0	1.0	unscreened	-	3881_21:10916378-10916378 G>A_RRILFIKHFIIYLIPRYVRDLKIQI
10:76468180-76468180 C>T	1.0	3881	MELANOMA	-	-	-	-	ADK	ENST00000541550,p.P321S|uc010qlc.2,p.P321S|NM_001202450,p.P299S|ENST00000286621,p.P356S|NM_001202449,p.P321S|NM_001123,p.P339S|uc001jwi.3,p.P356S|ENST00000539909,p.P299S|ENST00000372734,p.P339S|NM_006721,p.P356S|uc010qlb.2,p.P299S|uc001jwj.3,p.P339S	protein_coding, processed_transcript	uc010qlc.2	nonsynonymous SNV	exon10	c.C961T	p.P321S	ASIIIRRTGCTFPEKPDFH	ASIIIRRTGCTFSEKPDFH	8.0	9.0	-	-	3881_10:76468180-76468180 C>T_ASIIIRRTGCTFSEKPDFH
18:21123467-21123467 G>A	1.0	3881	MELANOMA	-	-	-	-	NPC1	uc010xaz.2,p.P466S|NM_000271,p.P733S|uc010xba.1,p.P578S|ENST00000269228,p.P733S|uc002kum.4,p.P733S|ENST00000412552,p.P415S	retained_intron, protein_coding, processed_transcript	uc010xba.1	nonsynonymous SNV	exon12	c.C1732T	p.P578S	DQQLGRVLGEVAPSMFLSSFSETVA	DQQLGRVLGEVASSMFLSSFSETVA	9.0	4.0	unscreened	-	3881_18:21123467-21123467 G>A_DQQLGRVLGEVASSMFLSSFSETVA
19:2211112-2211112 C>T	1.0	3881	MELANOMA	-	-	-	-	DOT1L	NM_032482,p.P456S|ENST00000398665,p.P456S|uc002lvb.4,p.P456S	retained_intron, protein_coding, processed_transcript	uc002lvb.4	nonsynonymous SNV	exon15	c.C1366T	p.P456S	TAASSPQDAYRSPHSPFYQLPPSVQ	TAASSPQDAYRSSHSPFYQLPPSVQ	8.0	4.0	unscreened	-	3881_19:2211112-2211112 C>T_TAASSPQDAYRSSHSPFYQLPPSVQ
4:87689049-87689049 C>T	1.0	3881	MELANOMA	-	-	-	1	PTPN13	ENST00000316707,p.S1279L|NM_080684,p.S1279L|uc003hqa.3,p.S1451L|NM_006264,p.S1451L|uc003hqb.3,p.S1279L|uc003hpy.3,p.S1475L|NM_080683,p.S1470L|NM_080685,p.S1475L|ENST00000427191,p.S1451L|uc003hpz.3,p.S1470L|ENST00000436978,p.S1475L|ENST00000411767,p.S1470L|ENST00000511467,p.S1475L	retained_intron, protein_coding	uc003hqb.3	nonsynonymous SNV	exon25	c.C3836T	p.S1279L	KEHVPVTPQCTLSDQNAQGQGPEKV	KEHVPVTPQCTLLDQNAQGQGPEKV	6.0	10.0	-	-	3881_4:87689049-87689049 C>T_KEHVPVTPQCTLLDQNAQGQGPEKV
2:27677525-27677525 G>A	1.0	3881	MELANOMA	-	-	ID=COSM1407464;OCCURENCE=1(large_intestine)	-	IFT172	uc002rku.3,p.S1125F|ENST00000260570,p.S1125F|NM_015662,p.S1125F	retained_intron, protein_coding, nonsense_mediated_decay	uc002rku.3	nonsynonymous SNV	exon31	c.C3374T	p.S1125F	LEAAVDHAADNCSFEFAFELSRLAL	LEAAVDHAADNCFFEFAFELSRLAL	8.0	3.0	unscreened	-	3881_2:27677525-27677525 G>A_LEAAVDHAADNCFFEFAFELSRLAL
1:111494079-111494079 G>A	1.0	3881	MELANOMA	-	-	-	-	LRIF1	NM_018372,p.P476L|uc001eaa.3,p.P476L|ENST00000369763,p.P476L	protein_coding	uc001eaa.3	nonsynonymous SNV	exon2	c.C1427T	p.P476L	NYLKQSKTLFTNPIFPVGFSTGHNA	NYLKQSKTLFTNLIFPVGFSTGHNA	8.0	4.0	unscreened	-	3881_1:111494079-111494079 G>A_NYLKQSKTLFTNLIFPVGFSTGHNA
2:73478433-73478433 C>T	1.0	3881	MELANOMA	-	-	-	-	CCT7	uc010yri.2,p.P341L|ENST00000537131,p.P328L|NM_001009570,p.P224L|uc002siz.3,p.P428L|ENST00000398422,p.P224L|ENST00000258091,p.P428L|uc010yrh.2,p.P300L|NM_001166285,p.P384L|ENST00000539919,p.P384L|NM_001166284,p.P341L|NM_006429,p.P428L|uc010yrf.2,p.P384L|ENST00000540468,p.P341L|uc010yrg.2,p.P328L|ENST00000538797,p.P300L|uc002sja.3,p.P224L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yri.2	nonsynonymous SNV	exon9	c.C1022T	p.P341L	LSKYLRDYSRTIPGKQQLLIGAYAK	LSKYLRDYSRTILGKQQLLIGAYAK	10.0	2.0	unscreened	-	3881_2:73478433-73478433 C>T_LSKYLRDYSRTILGKQQLLIGAYAK
5:5457799-5457799 C>T	1.0	3881	MELANOMA	-	-	-	-	ICE1	uc003jdm.5,p.S349L|ENST00000296564,p.S349L|NM_015325,p.S349L	retained_intron, protein_coding, processed_transcript	uc003jdm.5	nonsynonymous SNV	exon12	c.C1046T	p.S349L	FKLPPPLLSPVPSPPPMSSPHPGSL	FKLPPPLLSPVPLPPPMSSPHPGSL	8.0	9.0	-	-	3881_5:5457799-5457799 C>T_FKLPPPLLSPVPLPPPMSSPHPGSL
4:39077748-39077748 C>T	1.0	3881	MELANOMA	-	-	-	-	KLHL5	NM_001007075,p.R183C|ENST00000508137,p.R42C|uc003gtr.2,p.R229C|uc003gts.3,p.R229C|NM_001171654,p.R42C|ENST00000504108,p.R229C|NM_015990,p.R229C|uc003gtq.3,p.R42C|ENST00000359687,p.R229C|ENST00000261425,p.R183C|ENST00000381930,p.R229C|uc003gtp.3,p.R183C	protein_coding, nonsense_mediated_decay	uc003gts.3	nonsynonymous SNV	exon2	c.C685T	p.R229C	KQLCDVILVAGDRRIPAHRLVLSSV	KQLCDVILVAGDCRIPAHRLVLSSV	7.0	1.0	unscreened	-	3881_4:39077748-39077748 C>T_KQLCDVILVAGDCRIPAHRLVLSSV
12:54576158-54576158 G>A	1.0	3881	MELANOMA	-	-	-	-	SMUG1	uc001sff.2,p.P179S|uc009znf.2,p.P179S|NM_001243787,p.P179S|ENST00000508394,p.P179S|ENST00000337581,p.P179S|NM_014311,p.P179S|ENST00000401977,p.P179S|NM_001243788,p.P179S|uc001sfg.2,p.P179S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009znf.2	nonsynonymous SNV	exon3	c.C535T	p.P179S	LLFLAPSGRNLTPAELPAKQREQLL	LLFLAPSGRNLTSAELPAKQREQLL	9.0	3.0	unscreened	-	3881_12:54576158-54576158 G>A_LLFLAPSGRNLTSAELPAKQREQLL
1:46738436-46738436 C>T	1.0	3881	MELANOMA	-	-	-	-	RAD54L	uc009vye.2,p.S446F|uc001cpl.2,p.S446F|NM_001142548,p.S446F|ENST00000371975,p.S446F|NM_003579,p.S446F|ENST00000442598,p.S446F	protein_coding, processed_transcript	uc009vye.2	nonsynonymous SNV	exon13	c.C1337T	p.S446F	AEELLEGKMSVSSLSSITSLKKLCN	AEELLEGKMSVSFLSSITSLKKLCN	5.0	7.0	unscreened	-	3881_1:46738436-46738436 C>T_AEELLEGKMSVSFLSSITSLKKLCN
6:43172205-43172205 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1079499;OCCURENCE=1(endometrium)	-	CUL9	uc003oul.3,p.R1423C|uc003ouk.3,p.R1423C|ENST00000372647,p.R1423C|uc010jyk.3,p.R575C|ENST00000354495,p.R1313C|ENST00000252050,p.R1423C|NM_015089,p.R1423C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jyk.3	nonsynonymous SNV	exon20	c.C1723T	p.R575C	PLSRAASFASRVRRLCHLLVHVEPP	PLSRAASFASRVCRLCHLLVHVEPP	8.0	1.0	unscreened	-	3881_6:43172205-43172205 C>T_PLSRAASFASRVCRLCHLLVHVEPP
12:7092677-7092677 G>A	1.0	3881	MELANOMA	-	-	-	-	LPCAT3	ENST00000536797,p.R59W|ENST00000261407,p.R59W|ENST00000543794,p.R59W|ENST00000535479,p.R59W|uc001qsi.3,p.R59W|NM_005768,p.R59W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qsi.3	nonsynonymous SNV	exon2	c.C175T	p.R59W	SIFLGYPFALFYRHYLFYKETYLIH	SIFLGYPFALFYWHYLFYKETYLIH	7.0	5.0	unscreened	-	3881_12:7092677-7092677 G>A_SIFLGYPFALFYWHYLFYKETYLIH
7:77885650-77885650 G>A	1.0	3881	MELANOMA	-	-	-	-	MAGI2	ENST00000354212,p.R553W|uc011kgr.1,p.R385W|uc003ugx.3,p.R553W|uc003ugy.3,p.R553W|uc011kgs.1,p.R390W|NM_012301,p.R553W|ENST00000419488,p.R553W|uc010ldy.1,p.R162W|ENST00000536571,p.R385W|NM_001301128,p.R553W|ENST00000535697,p.R390W|ENST00000522391,p.R553W|uc010ldx.1,p.R162W	retained_intron, protein_coding, processed_transcript	uc011kgs.1	nonsynonymous SNV	exon9	c.C1168T	p.R390W	RHNYETYLEYISRTSQSVPDITDRP	RHNYETYLEYISWTSQSVPDITDRP	5.0	7.0	unscreened	-	3881_7:77885650-77885650 G>A_RHNYETYLEYISWTSQSVPDITDRP
18:202939-202939 C>G	1.0	3881	MELANOMA	-	-	-	-	USP14	ENST00000400266,p.I301M|ENST00000582707,p.I277M|uc002kkf.1,p.I312M|NM_001037334,p.I277M|ENST00000261601,p.I312M|ENST00000383589,p.I266M|NM_005151,p.I312M|uc010wyr.1,p.I301M|uc002kkg.1,p.I277M	retained_intron, protein_coding, processed_transcript	uc010wyr.1	nonsynonymous SNV	exon10	c.C903G	p.I301M	KQSPTLQRNALYIKSSKISRLPAYL	KQSPTLQRNALYMKSSKISRLPAYL	10.0	5.0	unscreened	-	3881_18:202939-202939 C>G_KQSPTLQRNALYMKSSKISRLPAYL
12:133727735-133727735 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF10	uc001ulq.3,p.S52F|ENST00000426665,p.S52F|ENST00000416488,p.S52F|ENST00000402932,p.S52F|uc009zzb.3,p.S52F|NM_015394,p.S52F|ENST00000248211,p.S52F|ENST00000536877,p.S52F|ENST00000540096,p.S52F	 protein_coding,protein_coding, processed_transcript,retained_intron, nonsense_mediated_decay	uc009zzb.3	nonsynonymous SNV	exon3	c.C155T	p.S52F	RNVMLENYKNLVSLGYQLTKPDVIL	RNVMLENYKNLVFLGYQLTKPDVIL	8.0	3.0	unscreened	-	3881_12:133727735-133727735 C>T_RNVMLENYKNLVFLGYQLTKPDVIL
6:152676087-152676087 C>T	1.0	3881	MELANOMA	-	-	-	-	SYNE1	uc003qou.4,p.G3545R|NM_182961,p.G3545R|ENST00000265368,p.G3545R|NM_033071,p.G3552R|ENST00000341594,p.G3516R|uc003qot.4,p.G3552R|ENST00000367255,p.G3545R|uc010kja.2,p.G250R|ENST00000423061,p.G3552R|ENST00000448038,p.G3552R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kja.2	nonsynonymous SNV	exon10	c.G748A	p.G250R	RDLQELQVHCAEGQALLNSVLHTRE	RDLQELQVHCAERQALLNSVLHTRE	8.0	10.0	-	-	3881_6:152676087-152676087 C>T_RDLQELQVHCAERQALLNSVLHTRE
4:153897334-153897334 C>T	1.0	3881	MELANOMA	-	-	-	-	FHDC1	ENST00000260008,p.S964F|NM_033393,p.S964F|ENST00000511601,p.S964F|uc003inf.2,p.S964F	protein_coding	uc003inf.2	nonsynonymous SNV	exon11	c.C2891T	p.S964F	AEEQRLPRGSSGSSSTRPGRDVPLQ	AEEQRLPRGSSGFSSTRPGRDVPLQ	5.0	2.0	unscreened	-	3881_4:153897334-153897334 C>T_AEEQRLPRGSSGFSSTRPGRDVPLQ
3:10130621-10130621 C>T	1.0	3881	MELANOMA	-	-	-	1	FANCD2	ENST00000287647,p.P1224S|uc003buy.1,p.P1224S|uc003buw.3,p.P1224S|ENST00000419585,p.P1224S|NM_033084,p.P1224S|ENST00000383807,p.P1224S|NM_001018115,p.P1224S|uc003bux.1,p.P1224S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003buy.1	nonsynonymous SNV	exon36	c.C3670T	p.P1224S	INSPKDASSSTFPTLTRHTFVVFFR	INSPKDASSSTFSTLTRHTFVVFFR	7.0	1.0	unscreened	-	3881_3:10130621-10130621 C>T_INSPKDASSSTFSTLTRHTFVVFFR
12:122862114-122862114 G>A	1.0	3881	MELANOMA	-	-	-	1	CLIP1	ENST00000537178,p.S160F|uc001ucg.2,p.S160F|NM_198240,p.S160F|uc010tae.2,p.S160F|ENST00000541108,p.S160F|ENST00000537004,p.S160F|ENST00000540338,p.S160F|ENST00000361654,p.S160F|ENST00000302528,p.S160F|ENST00000358808,p.S160F|NM_002956,p.S160F|uc001uch.1,p.S160F|NM_001247997,p.S160F|ENST00000540304,p.S160F|uc001uci.1,p.S160F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tae.2	nonsynonymous SNV	exon3	c.C479T	p.S160F	PLCTSTASMVSSSPSTPSNIPQKPS	PLCTSTASMVSSFPSTPSNIPQKPS	10.0	7.0	unscreened	-	3881_12:122862114-122862114 G>A_PLCTSTASMVSSFPSTPSNIPQKPS
17:7724610-7724610 C>T	1.0	3881	MELANOMA	-	-	-	-	DNAH2	ENST00000572933,p.H3689Y|ENST00000575105,p.H638Y|uc010cnm.1,p.H627Y|ENST00000389173,p.H3689Y|NM_020877,p.H3689Y|uc002giu.1,p.H3689Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010cnm.1	nonsynonymous SNV	exon14	c.C1879T	p.H627Y	TLFERHKLLFSFHMCAKILETSGKL	TLFERHKLLFSFYMCAKILETSGKL	8.0	1.0	unscreened	-	3881_17:7724610-7724610 C>T_TLFERHKLLFSFYMCAKILETSGKL
3:97605605-97605605 C>T	1.0	3881	MELANOMA	-	-	-	-	CRYBG3	uc021xbn.2,p.S2428L|ENST00000182096,p.S480L|NM_153605,p.S2428L	protein_coding, processed_transcript	uc021xbn.2	nonsynonymous SNV	exon8	c.C7283T	p.S2428L	LNISKSVSFTVKSGVWLAYPDINFK	LNISKSVSFTVKLGVWLAYPDINFK	6.0	1.0	unscreened	-	3881_3:97605605-97605605 C>T_LNISKSVSFTVKLGVWLAYPDINFK
6:131201339-131201339 G>A	1.0	3881	MELANOMA	-	-	ID=COSM1697980;OCCURENCE=1(skin)	-	EPB41L2	ENST00000531410,p.S13F|ENST00000530757,p.S13F|ENST00000527423,p.S13F	retained_intron, protein_coding, processed_transcript	ENST00000531410	nonsynonymous SNV	exon3	c.C38T	p.S13F	MEEEETQLEEKNSLRVEGDNIYVRH	MEEEETQLEEKNFLRVEGDNIYVRH	9.0	10.0	-	-	3881_6:131201339-131201339 G>A_MEEEETQLEEKNFLRVEGDNIYVRH
15:75499395-75499395 C>T	0.0	3881	MELANOMA	-	-	-	-	C15orf39	ENST00000360639,p.P336S|ENST00000567617,p.P336S|uc002azq.4,p.P336S|NM_015492,p.P336S|uc002azp.4,p.P336S|ENST00000394987,p.P336S|uc021sqm.1,p.P95S	protein_coding	uc021sqm.1	nonsynonymous SNV	exon1	c.C283T	p.P95S	YLRQQAAQAPYIPPLGLDAYPYPSA	YLRQQAAQAPYISPLGLDAYPYPSA	6.0	9.0	unscreened	-	3881_15:75499395-75499395 C>T_YLRQQAAQAPYISPLGLDAYPYPSA
18:46474772-46474772 C>T	1.0	3881	MELANOMA	-	-	-	-	SMAD7	ENST00000262158,p.D217N|uc002ldg.3,p.D217N|NM_005904,p.D217N	retained_intron, protein_coding, processed_transcript	uc002ldg.3	nonsynonymous SNV	exon2	c.G649A	p.D217N	ESPPPPYSRYPMDFLKPTADCPDAV	ESPPPPYSRYPMNFLKPTADCPDAV	7.0	8.0	unscreened	-	3881_18:46474772-46474772 C>T_ESPPPPYSRYPMNFLKPTADCPDAV
16:89986100-89986100 C>T	1.0	3881	MELANOMA	-	-	-	-	MC1R	uc002fpf.2,p.S145F|ENST00000555147,p.S145F|ENST00000555427,p.S145F|uc002fpe.4,p.S145F|ENST00000556922,p.S145F|NM_002386,p.S145F	protein_coding, processed_transcript	uc002fpf.2	nonsynonymous SNV	exon1	c.C434T	p.S145F	CFLGAIAVDRYISIFYALRYHSIVT	CFLGAIAVDRYIFIFYALRYHSIVT	6.0	3.0	unscreened	-	3881_16:89986100-89986100 C>T_CFLGAIAVDRYIFIFYALRYHSIVT
8:56711531-56711531 C>T	1.0	3881	MELANOMA	-	-	-	-	TGS1	ENST00000260129,p.S534L|NM_024831,p.S534L|uc010lyh.3,p.S438L|uc003xsj.4,p.S534L	retained_intron, protein_coding, nonsense_mediated_decay	uc010lyh.3	nonsynonymous SNV	exon7	c.C1313T	p.S438L	VNKPMDEEASQESSSHDNVHDASTS	VNKPMDEEASQELSSHDNVHDASTS	7.0	6.0	unscreened	-	3881_8:56711531-56711531 C>T_VNKPMDEEASQELSSHDNVHDASTS
2:71576094-71576094 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF638	uc010fec.2,p.P110S	retained_intron, protein_coding, processed_transcript	uc010fec.2	nonsynonymous SNV	exon2	c.C328T	p.P110S	LNQAFLKIAMSRPRFNPRGDFPLQR	LNQAFLKIAMSRSRFNPRGDFPLQR	9.0	4.0	unscreened	-	3881_2:71576094-71576094 C>T_LNQAFLKIAMSRSRFNPRGDFPLQR
19:52887596-52887596 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF880	NM_001145434,p.L255F|ENST00000422689,p.L255F|uc021uyu.1,p.L255F|uc002pzc.3,p.L255F	protein_coding, processed_transcript	uc021uyu.1	nonsynonymous SNV	exon4	c.C763T	p.L255F	HECGKLFNRISLLARHQRIHTGEKP	HECGKLFNRISLFARHQRIHTGEKP	8.0	3.0	unscreened	-	3881_19:52887596-52887596 C>T_HECGKLFNRISLFARHQRIHTGEKP
12:112926884-112926884 T>G	1.0	3881	MELANOMA	-	-	ID=COSM20901;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	1	PTPN11	uc001ttx.3,p.S502A|ENST00000351677,p.S502A|NM_002834,p.S502A	protein_coding, processed_transcript	uc001ttx.3	nonsynonymous SNV	exon13	c.T1504G	p.S502A	VPKTIQMVRSQRSGMVQTEAQYRFI	VPKTIQMVRSQRAGMVQTEAQYRFI	10.0	6.0	unscreened	-	3881_12:112926884-112926884 T>G_VPKTIQMVRSQRAGMVQTEAQYRFI
5:127666300-127666300 G>A	1.0	3881	MELANOMA	-	-	-	-	FBN2	ENST00000508989,p.S1404F|NM_001999,p.S1437F|ENST00000508053,p.S1437F|uc003kuu.3,p.S1437F|uc003kuv.2,p.S1404F|ENST00000507835,p.S287F|ENST00000262464,p.S1437F	retained_intron, protein_coding, processed_transcript	uc003kuv.2	nonsynonymous SNV	exon32	c.C4211T	p.S1404F	CVNTPGSYRCACSEGFTGDGFTCSD	CVNTPGSYRCACFEGFTGDGFTCSD	5.0	7.0	unscreened	-	3881_5:127666300-127666300 G>A_CVNTPGSYRCACFEGFTGDGFTCSD
10:102249821-102249821 G>A	1.0	3881	MELANOMA	-	-	-	-	SEC31B	uc010qpo.1,p.P969L|NM_015490,p.P970L|uc001krc.1,p.P970L|uc001krd.1,p.P507L|ENST00000370345,p.P970L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qpo.1	nonsynonymous SNV	exon20	c.C2906T	p.P969L	PASFPVPYLPGDPGAPCSSVLPTTG	PASFPVPYLPGDLGAPCSSVLPTTG	9.0	9.0	-	-	3881_10:102249821-102249821 G>A_PASFPVPYLPGDLGAPCSSVLPTTG
6:31762919-31762919 C>T	1.0	3881	MELANOMA	-	-	-	-	VARS	ENST00000375663,p.E26K|NM_006295,p.E26K|uc003nxe.3,p.E26K|ENST00000440048,p.E26K	retained_intron, protein_coding, processed_transcript	uc003nxe.3	nonsynonymous SNV	exon2	c.G76A	p.E26K	PSLRALIAARYGEAGEGPGWGGAHP	PSLRALIAARYGKAGEGPGWGGAHP	9.0	9.0	-	-	3881_6:31762919-31762919 C>T_PSLRALIAARYGKAGEGPGWGGAHP
19:40520816-40520816 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF546	uc002oms.2,p.H547Y|NM_001297763,p.H521Y|ENST00000600094,p.H521Y|uc002omt.2,p.H521Y|NM_178544,p.H547Y|ENST00000347077,p.H547Y	retained_intron, protein_coding, processed_transcript	uc002omt.2	nonsynonymous SNV	exon7	c.C1561T	p.H521Y	RLQGELTRHHRIHTCEKPYECKECG	RLQGELTRHHRIYTCEKPYECKECG	7.0	8.0	unscreened	-	3881_19:40520816-40520816 C>T_RLQGELTRHHRIYTCEKPYECKECG
16:3454607-3454607 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF174	NM_001032292,p.S195F|uc002cvc.3,p.S195F|ENST00000575752,p.S195F|ENST00000572544,p.S195F|ENST00000268655,p.S195F|ENST00000344823,p.S195F|uc002cvb.3,p.S195F|uc002cva.2,p.S195F|NM_003450,p.S195F|ENST00000571936,p.S195F	protein_coding	uc002cvc.3	nonsynonymous SNV	exon2	c.C584T	p.S195F	AYDRLSPHHWEKSPLLQEPTPKLAG	AYDRLSPHHWEKFPLLQEPTPKLAG	6.0	8.0	unscreened	-	3881_16:3454607-3454607 C>T_AYDRLSPHHWEKFPLLQEPTPKLAG
X:103040544-103040544 G>A	0.0	3881	MELANOMA	-	-	-	-	PLP1	uc010now.1,p.G17E	retained_intron, protein_coding, processed_transcript	uc010now.1	nonsynonymous SNV	exon2	c.G50A	p.G17E	LCLLECCARCLVGAPFASLVATGLC	LCLLECCARCLVEAPFASLVATGLC	10.0	7.0	unscreened	-	3881_X:103040544-103040544 G>A_LCLLECCARCLVEAPFASLVATGLC
X:103040544-103040544 G>A	0.0	3881	MELANOMA	-	-	-	-	PLP1	ENST00000429977,p.G13E|ENST00000433491,p.G13E|ENST00000443502,p.G13E|NM_000533,p.G13E|ENST00000361621,p.G13E|ENST00000418604,p.G13E|uc010nov.3,p.G13E|uc004elk.3,p.G13E|NM_199478,p.G13E|ENST00000303958,p.G13E|uc004elj.3,p.G13E|ENST00000422393,p.G13E|NM_001128834,p.G13E|ENST00000434483,p.G13E|ENST00000455268,p.G13E	retained_intron, protein_coding, processed_transcript	uc010nov.3	nonsynonymous SNV	exon3	c.G38A	p.G13E	MGLLECCARCLVGAPFASLVATGLC	MGLLECCARCLVEAPFASLVATGLC	10.0	7.0	unscreened	-	3881_X:103040544-103040544 G>A_MGLLECCARCLVEAPFASLVATGLC
2:33335666-33335666 C>T	1.0	3881	MELANOMA	-	-	-	-	LTBP1	ENST00000354476,p.S294F|NM_206943,p.S294F|uc021vft.1,p.S294F|ENST00000404816,p.S294F	protein_coding, processed_transcript	uc021vft.1	nonsynonymous SNV	exon4	c.C881T	p.S294F	PQQIHSQVTPLSSQSVVIHHGQTQE	PQQIHSQVTPLSFQSVVIHHGQTQE	6.0	4.0	unscreened	-	3881_2:33335666-33335666 C>T_PQQIHSQVTPLSFQSVVIHHGQTQE
3:43591312-43591312 G>A	1.0	3881	MELANOMA	-	-	-	-	ANO10	ENST00000451430,p.S455F|uc011azt.2,p.S455F|uc003cmv.3,p.S566F|NM_018075,p.S566F|NM_001204832,p.S500F|NM_001204833,p.S455F|ENST00000396091,p.S500F|uc010hil.3,p.S376F|ENST00000292246,p.S566F|ENST00000414522,p.S566F|uc011azs.2,p.S566F|NM_001204834,p.S376F|uc003cmw.3,p.S500F|NM_001204831,p.S566F|ENST00000350459,p.S376F	protein_coding, processed_transcript	uc011azt.2	nonsynonymous SNV	exon9	c.C1364T	p.S455F	VWQLAFETMSVISVVTNCALIGMSP	VWQLAFETMSVIFVVTNCALIGMSP	6.0	10.0	-	-	3881_3:43591312-43591312 G>A_VWQLAFETMSVIFVVTNCALIGMSP
5:137682494-137682494 C>T	1.0	3881	MELANOMA	-	-	-	-	FAM53C	uc003lcw.3,p.S342F|ENST00000239906,p.S342F|ENST00000434981,p.S342F|NM_001135647,p.S342F|NM_016605,p.S342F|uc003lcv.3,p.S342F	retained_intron, protein_coding, processed_transcript	uc003lcw.3	nonsynonymous SNV	exon5	c.C1025T	p.S342F	WFMACSPPPLSASCSPTGGSSQVLS	WFMACSPPPLSAFCSPTGGSSQVLS	8.0	6.0	unscreened	-	3881_5:137682494-137682494 C>T_WFMACSPPPLSAFCSPTGGSSQVLS
19:44739937-44739937 A>T	1.0	3881	MELANOMA	-	-	-	-	ZNF227	NM_001289170,p.I373L|uc010xww.2,p.I373L|ENST00000391961,p.I401L|NM_001289169,p.I401L|uc002oyw.3,p.I424L|uc002oyv.3,p.I452L|NM_001289168,p.I401L|NM_001289166,p.I452L|uc010xwv.2,p.I401L|NM_001289173,p.I424L|NM_001289167,p.I401L|NM_001289172,p.I355L|ENST00000589005,p.I401L|NM_001289171,p.I373L|uc002oyu.3,p.I452L|uc010xwu.2,p.I401L|NM_182490,p.I452L|ENST00000313040,p.I452L|uc010ejh.3,p.I445L	retained_intron, protein_coding, processed_transcript	uc010xww.2	nonsynonymous SNV	exon4	c.A1117T	p.I373L	VCGKGFSHNSPLICHRRVHTGEKPY	VCGKGFSHNSPLLCHRRVHTGEKPY	7.0	7.0	unscreened	-	3881_19:44739937-44739937 A>T_VCGKGFSHNSPLLCHRRVHTGEKPY
1:214557049-214557051 CCT>-	1.0	3881	MELANOMA	-	-	ID=COSM251272;OCCURENCE=2(endometrium),1(liver),2(lung)	-	PTPN14	uc001hkk.2,p.716_717del|NM_005401,p.716_717del|uc021piy.1,p.480_481del|ENST00000366956,p.716_717del|uc010pty.2,p.617_618del	protein_coding, processed_transcript	uc021piy.1	nonframeshift deletion	exon11	c.1439_1441del	p.480_481del	LIHSSESEEEEEEAPESVPQIPMLR	LIHSSESEEEEEAPESVPQIPMLRE	8.0	1.0	unscreened	-	3881_1:214557049-214557051 CCT>-_LIHSSESEEEEEAPESVPQIPMLRE
22:36587487-36587487 G>A	0.0	3881	MELANOMA	-	-	-	-	APOL4	ENST00000352371,p.S230F|ENST00000332987,p.S227F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000352371	nonsynonymous SNV	exon6	c.C689T	p.S230F	RDILRDITPNVLSFALDFDEATKMI	RDILRDITPNVLFFALDFDEATKMI	7.0	8.0	unscreened	-	3881_22:36587487-36587487 G>A_RDILRDITPNVLFFALDFDEATKMI
5:140572787-140572787 C>T	1.0	3881	MELANOMA	-	-	-	-	PCDHB10	NM_018930,p.S221F|ENST00000239446,p.S221F|uc003lix.3,p.S221F	protein_coding	uc003lix.3	nonsynonymous SNV	exon1	c.C662T	p.S221F	SLTLTALDGGSPSRSGTSTVRIVVL	SLTLTALDGGSPFRSGTSTVRIVVL	5.0	5.0	unscreened	-	3881_5:140572787-140572787 C>T_SLTLTALDGGSPFRSGTSTVRIVVL
15:40259734-40259734 C>T	1.0	3881	MELANOMA	-	-	-	-	EIF2AK4	NM_001013703,p.R403C|ENST00000559624,p.R403C|uc001zkl.3,p.R403C|ENST00000263791,p.R403C|uc010bbj.1,p.R132C|uc001zkm.1,p.R403C|ENST00000382727,p.R403C	retained_intron, protein_coding, processed_transcript, TEC	uc010bbj.1	nonsynonymous SNV	exon4	c.C394T	p.R132C	LSHSGPIPVHQLRRYTAQLLSGLDY	LSHSGPIPVHQLCRYTAQLLSGLDY	9.0	2.0	unscreened	-	3881_15:40259734-40259734 C>T_LSHSGPIPVHQLCRYTAQLLSGLDY
5:140750260-140750260 C>T	1.0	3881	MELANOMA	-	-	-	-	PCDHGB3	uc003ljw.2,p.S100L|NM_018924,p.S100L|NM_032097,p.S100L|uc011dat.2,p.S100L|ENST00000576222,p.S100L	protein_coding	uc011dat.2	nonsynonymous SNV	exon1	c.C299T	p.S100L	DRIDREEICGKKSTCVLEFEMVAEK	DRIDREEICGKKLTCVLEFEMVAEK	6.0	4.0	unscreened	-	3881_5:140750260-140750260 C>T_DRIDREEICGKKLTCVLEFEMVAEK
19:49120066-49120066 G>A	1.0	3881	MELANOMA	-	-	-	-	RPL18	uc010xzs.2,p.L72F|uc031rlp.1,p.L20F|ENST00000552588,p.L43F|ENST00000550645,p.L72F|ENST00000547897,p.L72F|ENST00000550973,p.L20F|ENST00000549273,p.L72F|uc031rlq.1,p.L43F|ENST00000549920,p.L72F|NM_000979,p.L72F|NM_001270490,p.L43F|uc002pjq.2,p.L72F	retained_intron, protein_coding, nonsense_mediated_decay, non_stop_decay	uc031rlq.1	nonsynonymous SNV	exon3	c.C127T	p.L43F	PLSLSRMIRKMKLPGRENKTAVVVG	PLSLSRMIRKMKFPGRENKTAVVVG	10.0	5.0	unscreened	-	3881_19:49120066-49120066 G>A_PLSLSRMIRKMKFPGRENKTAVVVG
14:35276722-35276722 G>A	1.0	3881	MELANOMA	-	-	-	-	BAZ1A	ENST00000360310,p.R221C|NM_182648,p.R221C|uc001wsm.1,p.R221C|ENST00000382422,p.R221C|NM_013448,p.R221C|uc001wsl.3,p.R221C|uc001wsk.3,p.R221C|ENST00000358716,p.R221C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wsm.1	nonsynonymous SNV	exon5	c.C661T	p.R221C	ATQISRRKHLFSRDKLKLFLKQHCE	ATQISRRKHLFSCDKLKLFLKQHCE	10.0	2.0	unscreened	-	3881_14:35276722-35276722 G>A_ATQISRRKHLFSCDKLKLFLKQHCE
15:78781051-78781051 C>T	1.0	3881	MELANOMA	-	-	-	-	IREB2	ENST00000258886,p.H672Y|NM_004136,p.H672Y|uc010unb.1,p.H422Y|uc002bdr.2,p.H672Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010unb.1	nonsynonymous SNV	exon15	c.C1264T	p.H422Y	YLHDIWPSREEVHRVEEEHVILSMF	YLHDIWPSREEVYRVEEEHVILSMF	9.0	1.0	unscreened	-	3881_15:78781051-78781051 C>T_YLHDIWPSREEVYRVEEEHVILSMF
5:140214357-140214357 C>T	1.0	3881	MELANOMA	-	-	-	-	PCDHA7	NM_031852,p.P130L|ENST00000525929,p.P130L|ENST00000378125,p.P130L|uc003lhq.2,p.P130L|uc011dac.2,p.P130L|NM_018910,p.P130L	protein_coding	uc011dac.2	nonsynonymous SNV	exon1	c.C389T	p.P130L	HVDVEVKDINDNPPVFPATQRNLFI	HVDVEVKDINDNLPVFPATQRNLFI	5.0	1.0	unscreened	-	3881_5:140214357-140214357 C>T_HVDVEVKDINDNLPVFPATQRNLFI
19:11943486-11943486 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF440	NM_152357,p.P499S|ENST00000304060,p.P499S|uc002msp.1,p.P499S	retained_intron, protein_coding	uc002msp.1	nonsynonymous SNV	exon4	c.C1495T	p.P499S	ECKQRSVVPSVVPVPFDIMKGLTLE	ECKQRSVVPSVVSVPFDIMKGLTLE	9.0	7.0	unscreened	-	3881_19:11943486-11943486 C>T_ECKQRSVVPSVVSVPFDIMKGLTLE
11:118344210-118344210 C>T	1.0	3881	MELANOMA	0.0	-	-	1	KMT2A	ENST00000534358,p.S779L|ENST00000389506,p.S779L|NM_005933,p.S779L|NM_001197104,p.S779L|uc001pta.3,p.S779L|ENST00000354520,p.S779L|uc001psz.1,p.S812L|uc001ptb.3,p.S779L|ENST00000531904,p.S812L	retained_intron, protein_coding, processed_transcript	uc001ptb.3	nonsynonymous SNV	exon3	c.C2336T	p.S779L	LSPLTPPSSVSSSLSISVSPLATSA	LSPLTPPSSVSSLLSISVSPLATSA	9.0	4.0	unscreened	-	3881_11:118344210-118344210 C>T_LSPLTPPSSVSSLLSISVSPLATSA
2:219209568-219209568 C>G	0.0	3881	MELANOMA	-	-	-	-	PNKD	ENST00000258362,p.P317R|ENST00000273077,p.P341R|NM_022572,p.P317R|uc002vhq.3,p.P317R|uc002vhn.3,p.P341R|ENST00000436005,p.P281R|NM_015488,p.P341R	retained_intron, protein_coding, processed_transcript	uc002vhq.3	nonsynonymous SNV	exon9	c.C950G	p.P317R	CPSTLGEERSYNPFLRTHCLALQEA	CPSTLGEERSYNRFLRTHCLALQEA	7.0	3.0	unscreened	-	3881_2:219209568-219209568 C>G_CPSTLGEERSYNRFLRTHCLALQEA
4:86863251-86863251 C>T	1.0	3881	MELANOMA	-	-	-	-	ARHGAP24	ENST00000512201,p.R47C|ENST00000514229,p.R57C|uc003hpj.3,p.R142C|NM_001287805,p.R57C|uc003hpl.3,p.R47C|ENST00000395183,p.R47C|uc003hpk.3,p.R142C|uc010ikf.3,p.R57C|NM_001025616,p.R142C|ENST00000395184,p.R142C|ENST00000503995,p.R142C|NM_001042669,p.R47C	retained_intron, protein_coding, processed_transcript	uc010ikf.3	nonsynonymous SNV	exon3	c.C169T	p.R57C	GGIFGQKLEDTVRYEKRYGNRLAPM	GGIFGQKLEDTVCYEKRYGNRLAPM	8.0	2.0	unscreened	-	3881_4:86863251-86863251 C>T_GGIFGQKLEDTVCYEKRYGNRLAPM
4:86863251-86863251 C>T	1.0	3881	MELANOMA	-	-	-	-	ARHGAP24	NM_031305,p.R49C|uc003hpm.3,p.R49C|ENST00000264343,p.R49C	retained_intron, protein_coding, processed_transcript	uc003hpm.3	nonsynonymous SNV	exon2	c.C145T	p.R49C	KGIFGQKLEDTVRYEKRYGNRLAPM	KGIFGQKLEDTVCYEKRYGNRLAPM	8.0	2.0	unscreened	-	3881_4:86863251-86863251 C>T_KGIFGQKLEDTVCYEKRYGNRLAPM
4:86863251-86863251 C>T	1.0	3881	MELANOMA	-	-	-	-	ARHGAP24	ENST00000509300,p.R16C	retained_intron, protein_coding, processed_transcript	ENST00000509300	nonsynonymous SNV	exon2	c.C46T	p.R16C	QGIFGQKLEDTVRYEKRYGNRLAPM	QGIFGQKLEDTVCYEKRYGNRLAPM	8.0	2.0	unscreened	-	3881_4:86863251-86863251 C>T_QGIFGQKLEDTVCYEKRYGNRLAPM
14:36230194-36230194 G>A	1.0	3881	MELANOMA	-	-	ID=COSM955555,COSM212906;OCCURENCE=1(endometrium),1(breast)	-	RALGAPA1	uc001wti.3,p.R130C|uc010tpw.1,p.R130C|NM_014990,p.R130C|NM_001283043,p.R130C|ENST00000307138,p.R130C|ENST00000553892,p.R130C|ENST00000258840,p.R130C|uc010tpv.2,p.R130C|ENST00000382366,p.R130C|ENST00000389698,p.R130C|NM_001283044,p.R130C|uc001wtj.3,p.R130C|NM_194301,p.R130C	retained_intron, protein_coding, processed_transcript	uc010tpw.1	nonsynonymous SNV	exon6	c.C388T	p.R130C	TGNSLKIRREGVRLFLLWLQALQNN	TGNSLKIRREGVCLFLLWLQALQNN	8.0	8.0	-	-	3881_14:36230194-36230194 G>A_TGNSLKIRREGVCLFLLWLQALQNN
17:44249098-44249098 G>A	1.0	3881	MELANOMA	-	-	-	-	KANSL1	NM_015443,p.L138F|NM_001193466,p.L138F|ENST00000574590,p.L138F|uc002ikd.3,p.L138F|ENST00000262419,p.L138F|uc010dav.3,p.L138F|uc002ikc.3,p.L138F|ENST00000575318,p.L138F|NM_001193465,p.L138F|ENST00000572904,p.L138F|ENST00000432791,p.L138F	retained_intron, protein_coding, processed_transcript	uc010dav.3	nonsynonymous SNV	exon3	c.C412T	p.L138F	GRQPVLEFSLENLRTMNTSGQTALP	GRQPVLEFSLENFRTMNTSGQTALP	9.0	1.0	unscreened	-	3881_17:44249098-44249098 G>A_GRQPVLEFSLENFRTMNTSGQTALP
9:72333557-72333557 G>A	1.0	3881	MELANOMA	-	-	-	-	PTAR1	ENST00000377200,p.P252S|uc004ahi.3,p.P252S	retained_intron, protein_coding	uc004ahi.3	nonsynonymous SNV	exon5	c.C754T	p.P252S	IFYLQHHLNGRFPHSMTQLSPADSP	IFYLQHHLNGRFSHSMTQLSPADSP	10.0	10.0	-	-	3881_9:72333557-72333557 G>A_IFYLQHHLNGRFSHSMTQLSPADSP
1:158064554-158064554 C>T	1.0	3881	MELANOMA	-	-	-	-	KIRREL	ENST00000392272,p.R537C|uc001fro.4,p.R454C|uc001frn.4,p.R640C|NM_018240,p.R640C|NM_001286349,p.R540C|ENST00000416935,p.R540C|ENST00000368173,p.R656C|ENST00000368172,p.R454C|uc009wsq.3,p.R476C|ENST00000360089,p.R476C|uc010pib.2,p.R540C|ENST00000359209,p.R640C	protein_coding	uc010pib.2	nonsynonymous SNV	exon13	c.C1618T	p.R540C	PGPARFDGRPSSRLSHSSGYAQLNT	PGPARFDGRPSSCLSHSSGYAQLNT	8.0	9.0	unscreened	-	3881_1:158064554-158064554 C>T_PGPARFDGRPSSCLSHSSGYAQLNT
15:44695109-44695109 C>T	1.0	3881	MELANOMA	-	-	-	-	CASC4	ENST00000299957,p.S366F|uc001ztp.3,p.S366F|NM_138423,p.S366F|uc001zto.2,p.S366F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001ztp.3	nonsynonymous SNV	exon9	c.C1097T	p.S366F	KLKQSRFFDENESPVDPQHGSKLAD	KLKQSRFFDENEFPVDPQHGSKLAD	10.0	2.0	unscreened	-	3881_15:44695109-44695109 C>T_KLKQSRFFDENEFPVDPQHGSKLAD
5:137542316-137542316 C>T	1.0	3881	MELANOMA	-	-	-	-	CDC23	uc003lcl.3,p.E98K|ENST00000394884,p.E98K|ENST00000394886,p.E98K|uc003lcm.1,p.E98K|NM_004661,p.E98K	retained_intron, protein_coding, nonsense_mediated_decay	uc003lcm.1	nonsynonymous SNV	exon3	c.G292A	p.E98K	AYTLAKAYFDVKEYDRAAHFLHGCN	AYTLAKAYFDVKKYDRAAHFLHGCN	9.0	4.0	unscreened	-	3881_5:137542316-137542316 C>T_AYTLAKAYFDVKKYDRAAHFLHGCN
8:2910163-2910163 G>A	1.0	3881	MELANOMA	-	-	-	-	CSMD1	uc022aqr.1,p.S2494F|ENST00000520002,p.S2495F|ENST00000602557,p.S2495F|ENST00000537824,p.S2494F|ENST00000542608,p.S2494F|ENST00000400186,p.S2495F|uc010lrg.3,p.S563F|NM_033225,p.S2494F|uc011kwj.2,p.S1824F|ENST00000602723,p.S2495F	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon50	c.C7481T	p.S2494F	QWDSLTPLCQAVSCGIPESPGNGSF	QWDSLTPLCQAVFCGIPESPGNGSF	7.0	8.0	unscreened	-	3881_8:2910163-2910163 G>A_QWDSLTPLCQAVFCGIPESPGNGSF
17:77769257-77769257 G>A	1.0	3881	MELANOMA	-	-	-	-	CBX8	ENST00000413392,p.S106F|ENST00000427800,p.S91F|NM_020649,p.S116F|ENST00000269385,p.S116F|uc002jxd.2,p.S116F	protein_coding, processed_transcript	uc002jxd.2	nonsynonymous SNV	exon5	c.C347T	p.S116F	IPYPGRSPQDLASTSRAREGLRNMG	IPYPGRSPQDLAFTSRAREGLRNMG	6.0	8.0	unscreened	-	3881_17:77769257-77769257 G>A_IPYPGRSPQDLAFTSRAREGLRNMG
14:51446040-51446040 G>A	1.0	3881	MELANOMA	-	-	-	-	TRIM9	uc001wyy.2,p.A793V|ENST00000338969,p.A793V	retained_intron, protein_coding, processed_transcript	uc001wyy.2	nonsynonymous SNV	exon12	c.C2378T	p.A793V	SCCWLPVQRLPRAVQSNRREGS	SCCWLPVQRLPRVVQSNRREGS	8.0	7.0	unscreened	-	3881_14:51446040-51446040 G>A_SCCWLPVQRLPRVVQSNRREGS
8:145512982-145512982 G>A	1.0	3881	MELANOMA	-	-	-	-	BOP1	uc003zbr.1,p.P35S|NM_015201,p.P35S|ENST00000307404,p.P35S	retained_intron, protein_coding, processed_transcript	uc003zbr.1	nonsynonymous SNV	exon2	c.C103T	p.P35S	EPELEPEPEPEPPLLCTSPLSHSTG	EPELEPEPEPEPSLLCTSPLSHSTG	7.0	4.0	unscreened	-	3881_8:145512982-145512982 G>A_EPELEPEPEPEPSLLCTSPLSHSTG
3:183887820-183887820 C>T	1.0	3881	MELANOMA	-	-	-	-	DVL3	uc003fms.3,p.H509Y|NM_004423,p.H509Y|ENST00000431765,p.H492Y|ENST00000313143,p.H509Y|uc003fmu.3,p.H341Y|uc011bqw.2,p.H492Y|uc003fmt.3,p.H180Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bqw.2	nonsynonymous SNV	exon14	c.C1474T	p.H492Y	LCGNMANLSLHDHDGSSGASDQDTL	LCGNMANLSLHDYDGSSGASDQDTL	9.0	1.0	unscreened	-	3881_3:183887820-183887820 C>T_LCGNMANLSLHDYDGSSGASDQDTL
15:100594140-100594140 A>C	1.0	3881	MELANOMA	-	-	-	-	ADAMTS17	NM_139057,p.S753A|ENST00000268070,p.S753A|uc002bvv.1,p.S753A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bvv.1	nonsynonymous SNV	exon16	c.T2257G	p.S753A	VRYVRRGLWEKISAKGPTKLPLHLM	VRYVRRGLWEKIAAKGPTKLPLHLM	8.0	2.0	unscreened	-	3881_15:100594140-100594140 A>C_VRYVRRGLWEKIAAKGPTKLPLHLM
3:49150057-49150057 A>C	1.0	3881	MELANOMA	-	-	-	-	USP19	ENST00000398896,p.I542M|ENST00000434032,p.I835M|uc003cvz.4,p.I837M|NM_001199162,p.I825M|ENST00000453664,p.I825M|ENST00000417901,p.I837M|uc003cwd.2,p.I734M|NM_001199160,p.I835M|NM_006677,p.I734M|uc003cwc.2,p.I492M|ENST00000398898,p.I774M|ENST00000398892,p.I774M|ENST00000398888,p.I734M|uc003cwa.3,p.I542M|uc011bcg.2,p.I825M|uc011bch.2,p.I835M|NM_001199161,p.I837M	protein_coding, processed_transcript	uc011bch.2	nonsynonymous SNV	exon18	c.T2505G	p.I835M	HVKPENLRLAEVIKNRFHRVFLPSH	HVKPENLRLAEVMKNRFHRVFLPSH	8.0	1.0	unscreened	-	3881_3:49150057-49150057 A>C_HVKPENLRLAEVMKNRFHRVFLPSH
20:35060236-35060236 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1203759;OCCURENCE=1(large_intestine)	-	DLGAP4	uc010zvp.2,p.A39V|ENST00000339266,p.A39V|ENST00000401952,p.A39V|ENST00000373907,p.A39V|NM_014902,p.A39V|ENST00000373913,p.A39V|uc002xff.3,p.A39V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zvp.2	nonsynonymous SNV	exon2	c.C116T	p.A39V	TDRNPYLLSPTEAFAREARFPGQNT	TDRNPYLLSPTEVFAREARFPGQNT	9.0	6.0	unscreened	-	3881_20:35060236-35060236 C>T_TDRNPYLLSPTEVFAREARFPGQNT
1:43908550-43908550 C>T	1.0	3881	MELANOMA	-	-	-	-	SZT2	uc001cjk.3,p.P2681S|NM_015284,p.P2681S|ENST00000562955,p.P2681S|ENST00000372442,p.P1839S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001cjk.3	nonsynonymous SNV	exon58	c.C8041T	p.P2681S	TMEVETLIRSASPPLSREQGRLSGS	TMEVETLIRSASSPLSREQGRLSGS	8.0	6.0	unscreened	-	3881_1:43908550-43908550 C>T_TMEVETLIRSASSPLSREQGRLSGS
5:176941943-176941943 G>T	1.0	3881	MELANOMA	-	-	-	-	DDX41	uc003mhq.1,p.P38T|uc003mhp.3,p.P127T|NM_016222,p.P258T|ENST00000507955,p.P258T|ENST00000330503,p.P276T|uc003mhn.3,p.P127T|uc003mho.3,p.P258T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mhq.1	nonsynonymous SNV	exon6	c.C112A	p.P38T	QEKRLPFSKREGPYGLIICPSRELA	QEKRLPFSKREGTYGLIICPSRELA	9.0	7.0	unscreened	-	3881_5:176941943-176941943 G>T_QEKRLPFSKREGTYGLIICPSRELA
8:103220495-103220495 G>A	1.0	3881	MELANOMA	-	-	ID=COSM1700437;OCCURENCE=2(skin)	-	RRM2B	ENST00000519962,p.P23S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000519962	nonsynonymous SNV	exon2	c.C67T	p.P23S	GLDQDEVFQAENPFDFMENISLEGK	GLDQDEVFQAENSFDFMENISLEGK	6.0	9.0	-	-	3881_8:103220495-103220495 G>A_GLDQDEVFQAENSFDFMENISLEGK
19:55751653-55751653 G>A	1.0	3881	MELANOMA	-	-	-	-	PPP6R1	NM_014931,p.R438C|ENST00000412770,p.R438C|uc002qjv.3,p.R500C|ENST00000587283,p.R438C|uc002qjw.4,p.R438C	retained_intron, protein_coding	uc002qjw.4	nonsynonymous SNV	exon11	c.C1312T	p.R438C	QNPVVKHLLQQCRLVERILTSWEEN	QNPVVKHLLQQCCLVERILTSWEEN	8.0	7.0	unscreened	-	3881_19:55751653-55751653 G>A_QNPVVKHLLQQCCLVERILTSWEEN
10:71158580-71158580 C>T	1.0	3881	MELANOMA	-	-	-	-	HK1	NM_033500,p.P857S|NM_033497,p.P873S|uc001jpj.4,p.P904S|uc001jpg.4,p.P857S|NM_033496,p.P868S|NM_000188,p.P869S|ENST00000298649,p.P868S|ENST00000404387,p.P873S|uc001jpl.4,p.P869S|ENST00000360289,p.P857S|ENST00000448642,p.P904S|NM_033498,p.P873S|uc001jph.4,p.P873S|uc001jpi.4,p.P873S|ENST00000359426,p.P869S|uc001jpk.4,p.P868S	protein_coding, processed_transcript	uc001jpl.4	nonsynonymous SNV	exon17	c.C2605T	p.P869S	TVGVDGTLYKLHPHFSRIMHQTVKE	TVGVDGTLYKLHSHFSRIMHQTVKE	9.0	4.0	unscreened	-	3881_10:71158580-71158580 C>T_TVGVDGTLYKLHSHFSRIMHQTVKE
10:25701203-25701203 C>T	1.0	3881	MELANOMA	-	-	-	-	GPR158	uc001isj.3,p.S379L|ENST00000376351,p.S379L|NM_020752,p.S379L	protein_coding, processed_transcript	uc001isj.3	nonsynonymous SNV	exon4	c.C1136T	p.S379L	NNFRRRGPDQHISGSTKDVSEEAYV	NNFRRRGPDQHILGSTKDVSEEAYV	7.0	9.0	-	-	3881_10:25701203-25701203 C>T_NNFRRRGPDQHILGSTKDVSEEAYV
3:48459712-48459712 G>A	1.0	3881	MELANOMA	-	-	-	-	PLXNB1	uc003csx.2,p.P1037L|NM_002673,p.P1037L|uc003csw.2,p.P1037L|ENST00000456774,p.P854L|ENST00000296440,p.P1037L|NM_001130082,p.P1037L|ENST00000358536,p.P1037L|ENST00000358459,p.P854L|uc003csu.2,p.P854L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003csx.2	nonsynonymous SNV	exon15	c.C3110T	p.P1037L	GHGDCSRCQTAMPQYGCVWCEGERP	GHGDCSRCQTAMLQYGCVWCEGERP	9.0	10.0	-	-	3881_3:48459712-48459712 G>A_GHGDCSRCQTAMLQYGCVWCEGERP
17:79514096-79514096 G>A	0.0	3881	MELANOMA	-	-	-	-	C17orf70	ENST00000545865,p.P45L|uc002kap.3,p.P520L|ENST00000425898,p.P320L|uc002kaq.3,p.P671L|ENST00000537152,p.P520L|uc002kao.1,p.P320L|ENST00000327787,p.P671L|NM_025161,p.P671L	protein_coding, nonsense_mediated_decay	uc002kaq.3	nonsynonymous SNV	exon5	c.C2012T	p.P671L	APPHTRAPSPLGPTRDPVATFLETC	APPHTRAPSPLGLTRDPVATFLETC	6.0	3.0	unscreened	-	3881_17:79514096-79514096 G>A_APPHTRAPSPLGLTRDPVATFLETC
1:79383560-79383560 C>T	0.0	3881	MELANOMA	-	-	-	-	ELTD1	ENST00000370742,p.G546E|NM_022159,p.G546E|uc001diq.4,p.G546E	protein_coding	uc001diq.4	nonsynonymous SNV	exon11	c.G1637A	p.G546E	YIFGYLSPAVVVGFSAALGYRYYGT	YIFGYLSPAVVVEFSAALGYRYYGT	6.0	4.0	unscreened	-	3881_1:79383560-79383560 C>T_YIFGYLSPAVVVEFSAALGYRYYGT
14:51448557-51448557 T>C	1.0	3881	MELANOMA	-	-	-	-	TRIM9	uc001wyy.2,p.N704S|ENST00000298355,p.N623S|uc001wyx.4,p.N623S|NM_015163,p.N623S|ENST00000338969,p.N704S	retained_intron, protein_coding, processed_transcript	uc001wyy.2	nonsynonymous SNV	exon11	c.A2111G	p.N704S	KDDKAWAMYVDNNRSWFMHNNSHTN	KDDKAWAMYVDNSRSWFMHNNSHTN	8.0	7.0	unscreened	-	3881_14:51448557-51448557 T>C_KDDKAWAMYVDNSRSWFMHNNSHTN
9:35108111-35108111 G>A	1.0	3881	MELANOMA	-	-	-	-	FAM214B	ENST00000603301,p.S54F|uc003zwp.1,p.S54F|ENST00000378561,p.S54F|ENST00000378554,p.S54F|uc003zwo.3,p.S54F|NM_025182,p.S54F|uc003zwl.3,p.S54F|ENST00000322813,p.S54F|uc003zwm.3,p.S54F|ENST00000605244,p.S54F|ENST00000488109,p.S54F|uc022bgj.1,p.S54F|ENST00000378557,p.S54F	protein_coding, processed_transcript	uc022bgj.1	nonsynonymous SNV	exon1	c.C161T	p.S54F	ATSPGVYQVSIFSPPAGTSEPHRAL	ATSPGVYQVSIFFPPAGTSEPHRAL	9.0	1.0	unscreened	-	3881_9:35108111-35108111 G>A_ATSPGVYQVSIFFPPAGTSEPHRAL
10:71902538-71902538 G>T	1.0	3881	MELANOMA	-	-	-	-	TYSND1	uc001jqr.4,p.L457I|ENST00000287078,p.L457I|NM_173555,p.L457I|uc031pvi.1,p.L85I	protein_coding, processed_transcript	uc031pvi.1	nonsynonymous SNV	exon3	c.C253A	p.L85I	GQSCGPSVTSGILSAVVQVNGTPVM	GQSCGPSVTSGIISAVVQVNGTPVM	5.0	2.0	unscreened	-	3881_10:71902538-71902538 G>T_GQSCGPSVTSGIISAVVQVNGTPVM
17:5364327-5364327 A>G	1.0	3881	MELANOMA	-	-	-	-	DHX33	NM_020162,p.F261L|uc002gcb.3,p.F88L|NM_001199699,p.F88L|ENST00000225296,p.F261L|uc002gbz.3,p.F32L|uc002gca.3,p.F261L	retained_intron, protein_coding, nonsense_mediated_decay	uc002gcb.3	nonsynonymous SNV	exon3	c.T262C	p.F88L	LYLEGRQHPIQVFYTKQPQNDYLHA	LYLEGRQHPIQVLYTKQPQNDYLHA	8.0	7.0	unscreened	-	3881_17:5364327-5364327 A>G_LYLEGRQHPIQVLYTKQPQNDYLHA
11:74876893-74876893 G>A	0.0	3881	MELANOMA	-	-	ID=COSM3728318;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	SLCO2B1	ENST00000527180,p.R94Q|uc001owb.3,p.R116Q|NM_007256,p.R116Q|NM_001145211,p.R94Q|ENST00000428359,p.R94Q|ENST00000289575,p.R116Q|ENST00000534186,p.R94Q|uc001owd.3,p.R94Q	retained_intron, protein_coding, processed_transcript, TEC	uc001owd.3	nonsynonymous SNV	exon4	c.G281A	p.R94Q	FVSYFGSRVHRPRMIGYGAILVALA	FVSYFGSRVHRPQMIGYGAILVALA	7.0	9.0	unscreened	-	3881_11:74876893-74876893 G>A_FVSYFGSRVHRPQMIGYGAILVALA
9:139317711-139317711 C>T	1.0	3881	MELANOMA	-	-	-	-	PMPCA	ENST00000371717,p.R525W|NM_001282944,p.R394W|uc010nbl.3,p.R425W|NM_015160,p.R525W|ENST00000399219,p.R394W|uc004chl.3,p.R525W|uc011mdz.2,p.R394W|NM_001282946,p.R425W	protein_coding, processed_transcript	uc011mdz.2	nonsynonymous SNV	exon12	c.C1180T	p.R394W	KDGRLPRTYRLFR	KDGRLPRTYRLFW	7.0	10.0	-	-	3881_9:139317711-139317711 C>T_KDGRLPRTYRLFW
2:136029348-136029348 G>A	1.0	3881	MELANOMA	-	-	-	-	ZRANB3	uc002tul.3,p.A399V|NM_032143,p.A399V|NM_001286568,p.A399V|ENST00000536680,p.A399V|uc002tum.3,p.A399V|ENST00000401392,p.A399V|ENST00000264159,p.A399V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tum.3	nonsynonymous SNV	exon10	c.C1196T	p.A399V	DPDTRVAILSIQAAGQGLTFTAASH	DPDTRVAILSIQVAGQGLTFTAASH	5.0	2.0	unscreened	-	3881_2:136029348-136029348 G>A_DPDTRVAILSIQVAGQGLTFTAASH
1:77515951-77515951 C>T	1.0	3881	MELANOMA	-	-	-	-	ST6GALNAC5	ENST00000318803,p.P226S	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000318803	nonsynonymous SNV	exon4	c.C676T	p.P226S	ELFKQETGKDRYPTLGSALAGLQ	ELFKQETGKDRYSTLGSALAGLQ	9.0	4.0	unscreened	-	3881_1:77515951-77515951 C>T_ELFKQETGKDRYSTLGSALAGLQ
15:42837435-42837435 G>A	1.0	3881	MELANOMA	-	-	-	-	LRRC57	ENST00000397130,p.S173F|ENST00000563454,p.S173F|uc001zqd.2,p.S173F|uc001zqc.3,p.S173F|NM_153260,p.S173F|ENST00000323443,p.S173F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zqd.2	nonsynonymous SNV	exon4	c.C518T	p.S173F	NQNQISQISVKISCCPRLKILRLEE	NQNQISQISVKIFCCPRLKILRLEE	10.0	1.0	unscreened	-	3881_15:42837435-42837435 G>A_NQNQISQISVKIFCCPRLKILRLEE
16:85942641-85942641 G>A	0.0	3881	MELANOMA	-	-	-	-	IRF8	ENST00000564803,p.E74K|ENST00000268638,p.E74K|ENST00000564617,p.E74K|uc002fjh.3,p.E74K|ENST00000563180,p.E74K|uc002fji.3,p.E74K|NM_002163,p.E74K	retained_intron, protein_coding	uc002fji.3	nonsynonymous SNV	exon2	c.G220A	p.E74K	VFKGKFKEGDKAEPATWKTRLRCAL	VFKGKFKEGDKAKPATWKTRLRCAL	9.0	7.0	unscreened	-	3881_16:85942641-85942641 G>A_VFKGKFKEGDKAKPATWKTRLRCAL
7:102098271-102098271 G>A	1.0	3881	MELANOMA	-	-	-	-	ALKBH4	uc003uzm.3,p.P87L|NM_017621,p.P160L|ENST00000292566,p.P160L|uc003uzl.3,p.P160L	retained_intron, protein_coding, nonsense_mediated_decay	uc003uzm.3	nonsynonymous SNV	exon3	c.C260T	p.P87L	FRPVEQCNLDYCPERGSAIDPHLDD	FRPVEQCNLDYCLERGSAIDPHLDD	5.0	6.0	unscreened	-	3881_7:102098271-102098271 G>A_FRPVEQCNLDYCLERGSAIDPHLDD
X:70601641-70601641 C>T	0.0	3881	MELANOMA	-	-	-	-	TAF1	ENST00000423759,p.P490L|NM_138923,p.P469L|uc004dzt.4,p.P490L|ENST00000373790,p.P469L|ENST00000276072,p.P490L|NM_004606,p.P490L|uc004dzu.4,p.P469L|ENST00000449580,p.P469L|NM_001286074,p.P490L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004dzu.4	nonsynonymous SNV	exon9	c.C1406T	p.P469L	TLDDDKPWYSIFPIDNEDLVYGRWE	TLDDDKPWYSIFLIDNEDLVYGRWE	9.0	5.0	unscreened	-	3881_X:70601641-70601641 C>T_TLDDDKPWYSIFLIDNEDLVYGRWE
16:57785190-57785190 G>A	1.0	3881	MELANOMA	-	-	-	-	KATNB1	ENST00000569627,p.E103K	retained_intron, protein_coding	ENST00000569627	nonsynonymous SNV	exon4	c.G307A	p.E103K	DLEAAKTLGHQEERLCLPIQGAQPG	DLEAAKTLGHQEKRLCLPIQGAQPG	7.0	5.0	unscreened	-	3881_16:57785190-57785190 G>A_DLEAAKTLGHQEKRLCLPIQGAQPG
14:71444052-71444052 C>T	1.0	3881	MELANOMA	-	-	-	-	PCNX	ENST00000238570,p.S333F|ENST00000439984,p.S333F|NM_014982,p.S333F|ENST00000304743,p.S333F|uc001xmn.4,p.S333F|uc001xmo.2,p.S333F|uc010are.1,p.S333F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010are.1	nonsynonymous SNV	exon6	c.C998T	p.S333F	PLSGSKESLVENSGLSGEFQLAGDL	PLSGSKESLVENFGLSGEFQLAGDL	9.0	4.0	unscreened	-	3881_14:71444052-71444052 C>T_PLSGSKESLVENFGLSGEFQLAGDL
5:140531976-140531976 G>A	1.0	3881	MELANOMA	-	-	-	-	PCDHB6	NM_018939,p.R713K|ENST00000231136,p.R713K|ENST00000543635,p.R577K|uc003lir.3,p.R713K	protein_coding	uc003lir.3	nonsynonymous SNV	exon1	c.G2138A	p.R713K	FSVLLFVAVRLCRRSRAASVGRYSV	FSVLLFVAVRLCKRSRAASVGRYSV	6.0	3.0	unscreened	-	3881_5:140531976-140531976 G>A_FSVLLFVAVRLCKRSRAASVGRYSV
X:106093345-106093345 C>T	0.0	3881	MELANOMA	-	-	-	-	TBC1D8B	ENST00000276175,p.S637F|ENST00000357242,p.S643F|uc004emo.3,p.S643F|NM_017752,p.S643F	retained_intron, protein_coding	uc004emo.3	nonsynonymous SNV	exon12	c.C1928T	p.S643F	QLTEHMTDMTFFSSVSLSWFLTLFI	QLTEHMTDMTFFFSVSLSWFLTLFI	6.0	4.0	unscreened	-	3881_X:106093345-106093345 C>T_QLTEHMTDMTFFFSVSLSWFLTLFI
7:150499304-150499304 T>A	0.0	3881	MELANOMA	-	-	-	-	TMEM176A	ENST00000484928,p.V59E|NM_018487,p.V59E|ENST00000004103,p.V59E|uc003whx.1,p.V59E	retained_intron, protein_coding	uc003whx.1	nonsynonymous SNV	exon3	c.T176A	p.V59E	ARGSSRLLVASWVMQIVLGILSAVL	ARGSSRLLVASWEMQIVLGILSAVL	6.0	7.0	unscreened	-	3881_7:150499304-150499304 T>A_ARGSSRLLVASWEMQIVLGILSAVL
3:38167153-38167153 G>A	1.0	3881	MELANOMA	-	-	-	-	ACAA1	NM_001607,p.P368S|ENST00000301810,p.P275S|ENST00000450296,p.P327S|ENST00000333167,p.P368S|NM_001130410,p.P275S|uc003chu.3,p.P275S|uc003cht.3,p.P368S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003chu.3	nonsynonymous SNV	exon9	c.C823T	p.P275S	VEKLRLPPEKVNPLGGAVALGHPLG	VEKLRLPPEKVNSLGGAVALGHPLG	8.0	8.0	unscreened	-	3881_3:38167153-38167153 G>A_VEKLRLPPEKVNSLGGAVALGHPLG
20:33515007-33515007 C>T	1.0	3881	MELANOMA	-	-	-	-	ACSS2	ENST00000360596,p.T699I|NM_001242393,p.T604I|uc002xbe.2,p.T407I|ENST00000336325,p.T649I|ENST00000253382,p.T712I|NM_018677,p.T699I|uc002xbd.2,p.T699I|uc002xbc.2,p.T604I|uc010gey.2,p.T712I|NM_001076552,p.T712I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010gey.2	nonsynonymous SNV	exon19	c.C2135T	p.T712I	SVISHLFSHRCLTIQ	SVISHLFSHRCLIIQ	7.0	3.0	unscreened	-	3881_20:33515007-33515007 C>T_SVISHLFSHRCLIIQ
5:68660894-68660894 A>G	1.0	3881	MELANOMA	-	-	-	-	TAF9	NM_003187,p.I224T|uc003jwc.1,p.I224T|NM_001015892,p.I224T|ENST00000328663,p.I224T|uc003jwf.1,p.I224T|ENST00000506736,p.I224T|ENST00000217893,p.I224T|uc003jwe.1,p.I224T|uc021xzp.1,p.I224T	protein_coding, processed_transcript	uc021xzp.1	nonsynonymous SNV	exon1	c.T671C	p.I224T	VLINPSLIGSKNILITTNMMSSQNT	VLINPSLIGSKNTLITTNMMSSQNT	10.0	3.0	unscreened	-	3881_5:68660894-68660894 A>G_VLINPSLIGSKNTLITTNMMSSQNT
21:32554843-32554843 G>A	1.0	3881	MELANOMA	-	-	-	-	TIAM1	uc011adk.1,p.P928S|uc011adl.1,p.P868S|ENST00000286827,p.P928S|ENST00000541036,p.P868S|NM_003253,p.P928S|uc002yow.1,p.P928S	retained_intron, protein_coding, processed_transcript	uc011adl.1	nonsynonymous SNV	exon11	c.C2602T	p.P868S	SQPSLGLLVRTYPELEEGVELLESP	SQPSLGLLVRTYSELEEGVELLESP	7.0	3.0	unscreened	-	3881_21:32554843-32554843 G>A_SQPSLGLLVRTYSELEEGVELLESP
X:153005664-153005664 C>T	1.0	3881	MELANOMA	-	-	-	-	ABCD1	ENST00000218104,p.P536L|uc004fif.2,p.P536L|NM_000033,p.P536L	protein_coding	uc004fif.2	nonsynonymous SNV	exon6	c.C1607T	p.P536L	WPTYGGVLYKPPPQRMFYIPQRPYM	WPTYGGVLYKPPLQRMFYIPQRPYM	7.0	9.0	-	-	3881_X:153005664-153005664 C>T_WPTYGGVLYKPPLQRMFYIPQRPYM
19:40542069-40542069 G>A	1.0	3881	MELANOMA	-	-	-	-	ZNF780B	uc002omu.3,p.P233S|uc002omv.3,p.P85S|NM_001005851,p.P233S|ENST00000434248,p.P233S|ENST00000221355,p.P85S	retained_intron, protein_coding, non_stop_decay	uc002omv.3	nonsynonymous SNV	exon6	c.C253T	p.P85S	FECKECGKAFNLPTQLNRHKNIHTV	FECKECGKAFNLSTQLNRHKNIHTV	9.0	6.0	unscreened	-	3881_19:40542069-40542069 G>A_FECKECGKAFNLSTQLNRHKNIHTV
20:20032949-20032949 G>A	1.0	3881	MELANOMA	-	-	-	2	CRNKL1	NM_001278625,p.P162L|uc002wrt.1,p.P162L|uc002wrs.3,p.P174L|NM_001278628,p.P13L|NM_016652,p.P174L|ENST00000377340,p.P174L|ENST00000536226,p.P13L|ENST00000377327,p.P162L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002wrt.1	nonsynonymous SNV	exon2	c.C485T	p.P162L	MAASTAAGKQRIPKVAKVKNKAPAE	MAASTAAGKQRILKVAKVKNKAPAE	7.0	9.0	-	-	3881_20:20032949-20032949 G>A_MAASTAAGKQRILKVAKVKNKAPAE
1:26515171-26515171 C>T	0.0	3881	MELANOMA	-	-	-	-	CNKSR1	ENST00000374253,p.S565F|uc001blm.4,p.S558F|uc009vsd.3,p.S300F|uc001bln.4,p.S565F|NM_006314,p.S558F|NM_001297647,p.S565F|ENST00000361530,p.S558F|ENST00000531191,p.S300F|NM_001297648,p.S300F|uc009vse.3,p.S300F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vse.3	nonsynonymous SNV	exon19	c.C899T	p.S300F	PAATPTQRSPRTSFGSLTDSSEEAL	PAATPTQRSPRTFFGSLTDSSEEAL	4.0	9.0	unscreened	-	3881_1:26515171-26515171 C>T_PAATPTQRSPRTFFGSLTDSSEEAL
8:26265763-26265763 C>T	1.0	3881	MELANOMA	-	-	-	-	BNIP3L	ENST00000518611,p.P121L|uc010lui.1,p.P121L|ENST00000523949,p.P139L|NM_004331,p.P161L|uc003xey.2,p.P121L|uc010luh.1,p.P54L|ENST00000523515,p.P121L|ENST00000520409,p.P121L|uc003xex.1,p.P161L|ENST00000380629,p.P161L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lui.1	nonsynonymous SNV	exon5	c.C362T	p.P121L	ENIPPKEFHFRHPKRSVSLSMRKSG	ENIPPKEFHFRHLKRSVSLSMRKSG	10.0	6.0	unscreened	-	3881_8:26265763-26265763 C>T_ENIPPKEFHFRHLKRSVSLSMRKSG
15:41339675-41339675 G>A	1.0	3881	MELANOMA	-	-	-	-	INO80	NM_017553,p.S889F|ENST00000401393,p.S889F|ENST00000361937,p.S889F|ENST00000558357,p.S889F|uc001zni.3,p.S889F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zni.3	nonsynonymous SNV	exon23	c.C2666T	p.S889F	FHRKGINEESCFSFLRFIDISPAEM	FHRKGINEESCFFFLRFIDISPAEM	8.0	1.0	unscreened	-	3881_15:41339675-41339675 G>A_FHRKGINEESCFFFLRFIDISPAEM
4:39924252-39924252 G>A	1.0	3881	MELANOMA	-	-	-	-	PDS5A	uc003guv.4,p.P215L|ENST00000303538,p.P215L|NM_001100400,p.P215L|NM_001100399,p.P215L|ENST00000503396,p.P215L|uc003guw.4,p.P215L	retained_intron, protein_coding, nonsense_mediated_decay	uc003guw.4	nonsynonymous SNV	exon6	c.C644T	p.P215L	QELLDSILINLIPAHKNLNKQSFDL	QELLDSILINLILAHKNLNKQSFDL	9.0	10.0	-	-	3881_4:39924252-39924252 G>A_QELLDSILINLILAHKNLNKQSFDL
16:67228731-67228731 C>T	1.0	3881	MELANOMA	-	-	-	-	E2F4	ENST00000379378,p.P219L|uc002erz.3,p.P219L|NM_001950,p.P219L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002erz.3	nonsynonymous SNV	exon6	c.C656T	p.P219L	VPVPPPEDLLQSPSAVSTPPPLPKP	VPVPPPEDLLQSLSAVSTPPPLPKP	8.0	3.0	unscreened	-	3881_16:67228731-67228731 C>T_VPVPPPEDLLQSLSAVSTPPPLPKP
3:4735420-4735420 C>T	1.0	3881	MELANOMA	-	-	-	-	ITPR1	ENST00000302640,p.P1411S|uc003bqc.3,p.P1411S|uc021wsj.1,p.P1402S|NM_001168272,p.P1411S|ENST00000443694,p.P1411S|ENST00000357086,p.P1417S|uc021wsi.1,p.P1417S|ENST00000354582,p.P1426S|ENST00000456211,p.P1402S|NM_001099952,p.P1417S|ENST00000423119,p.P1417S|NM_002222,p.P1402S	retained_intron, protein_coding, processed_transcript	uc021wsj.1	nonsynonymous SNV	exon32	c.C4204T	p.P1402S	DIVRVVTHEDCIPEVKIAYINFLNH	DIVRVVTHEDCISEVKIAYINFLNH	7.0	4.0	unscreened	-	3881_3:4735420-4735420 C>T_DIVRVVTHEDCISEVKIAYINFLNH
7:149557669-149557669 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF862	uc010lpn.3,p.P474S|NM_001099220,p.P474S|ENST00000223210,p.P474S	retained_intron, protein_coding, processed_transcript	uc010lpn.3	nonsynonymous SNV	exon7	c.C1420T	p.P474S	PRSIQRSWFGQFPWLVIDPKETKLF	PRSIQRSWFGQFSWLVIDPKETKLF	7.0	4.0	unscreened	-	3881_7:149557669-149557669 C>T_PRSIQRSWFGQFSWLVIDPKETKLF
12:4700372-4700372 C>T	0.0	3881	MELANOMA	-	-	-	-	DYRK4	ENST00000542744,p.S124L|uc009zeh.1,p.S124L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zeh.1	nonsynonymous SNV	exon5	c.C371T	p.S124L	AHNQMPASELKASEIPFHPSIKTQD	AHNQMPASELKALEIPFHPSIKTQD	9.0	6.0	unscreened	-	3881_12:4700372-4700372 C>T_AHNQMPASELKALEIPFHPSIKTQD
1:151278836-151278836 G>A	1.0	3881	MELANOMA	-	-	-	-	PI4KB	NM_001198773,p.P381S|ENST00000271657,p.P408S|uc001exr.3,p.P408S|ENST00000368872,p.P381S|uc010pcw.2,p.P64S|NM_001198774,p.P381S|uc001exs.3,p.P381S|ENST00000489223,p.P64S|uc001ext.3,p.P396S|ENST00000368874,p.P381S|NM_001198775,p.P64S|ENST00000529142,p.P64S|ENST00000430800,p.P64S|NM_002651,p.P408S|uc001exu.3,p.P381S|ENST00000368873,p.P396S|ENST00000368875,p.P408S	retained_intron, protein_coding	uc010pcw.2	nonsynonymous SNV	exon3	c.C190T	p.P64S	TQAVVLNSKDKAPYLIYVEVLECEN	TQAVVLNSKDKASYLIYVEVLECEN	8.0	3.0	unscreened	-	3881_1:151278836-151278836 G>A_TQAVVLNSKDKASYLIYVEVLECEN
4:2306803-2306803 G>A	1.0	3881	MELANOMA	-	-	-	-	ZFYVE28	NM_020972,p.P422S|ENST00000290974,p.P422S|uc003gex.2,p.P422S|uc011bvl.2,p.P392S|uc003gew.2,p.P308S|uc011bvk.2,p.P352S|NM_001172656,p.P392S|ENST00000511071,p.P392S|NM_001172659,p.P352S|ENST00000515312,p.P352S	retained_intron, protein_coding, processed_transcript	uc011bvl.2	nonsynonymous SNV	exon7	c.C1174T	p.P392S	AEALARPESPAGPFGWAGSTWADPQ	AEALARPESPAGSFGWAGSTWADPQ	6.0	2.0	unscreened	-	3881_4:2306803-2306803 G>A_AEALARPESPAGSFGWAGSTWADPQ
5:38904578-38904578 G>A	1.0	3881	MELANOMA	-	-	-	-	OSMR	ENST00000274276,p.G420S|NM_003999,p.G420S|ENST00000513831,p.G27S|uc003jln.2,p.G420S	protein_coding, nonsense_mediated_decay	uc003jln.2	nonsynonymous SNV	exon9	c.G1258A	p.G420S	DASHFWKWSEWSGQNFTTLEAAPSE	DASHFWKWSEWSSQNFTTLEAAPSE	7.0	2.0	unscreened	-	3881_5:38904578-38904578 G>A_DASHFWKWSEWSSQNFTTLEAAPSE
2:196545334-196545334 C>T	1.0	3881	MELANOMA	-	-	-	-	SLC39A10	uc002uth.4,p.H190Y|uc002utg.4,p.H190Y|NM_001127257,p.H190Y|ENST00000409086,p.H190Y|ENST00000359634,p.H190Y|NM_020342,p.H190Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002uth.4	nonsynonymous SNV	exon2	c.C568T	p.H190Y	LRHHHRLHHHLDHNNTHHFHNDSIT	LRHHHRLHHHLDYNNTHHFHNDSIT	8.0	2.0	unscreened	-	3881_2:196545334-196545334 C>T_LRHHHRLHHHLDYNNTHHFHNDSIT
16:28118963-28118963 C>T	1.0	3881	MELANOMA	-	-	-	-	XPO6	ENST00000565698,p.E779K|uc002dpa.2,p.E793K|ENST00000304658,p.E793K|NM_001270940,p.E779K|NM_015171,p.E793K|uc010vcp.2,p.E793K|uc002dpb.2,p.E779K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vcp.2	nonsynonymous SNV	exon18	c.G2377A	p.E793K	TKLIIHQTLSVLEDIVENISGESTK	TKLIIHQTLSVLKDIVENISGESTK	10.0	5.0	unscreened	-	3881_16:28118963-28118963 C>T_TKLIIHQTLSVLKDIVENISGESTK
4:60043-60043 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF595,ZNF718	ENST00000526473,p.P75S	retained_intron, protein_coding, processed_transcript	ENST00000526473	nonsynonymous SNV	exon3	c.C223T	p.P75S	CNLKIHETAAKPPGSDLQVYKESQC	CNLKIHETAAKPSGSDLQVYKESQC	10.0	1.0	unscreened	-	3881_4:60043-60043 C>T_CNLKIHETAAKPSGSDLQVYKESQC
21:34030143-34030143 G>A	1.0	3881	MELANOMA	-	-	-	-	SYNJ1	ENST00000382491,p.P777S|NM_003895,p.P821S|NM_001160306,p.P777S|uc002yqf.2,p.P782S|ENST00000357345,p.P782S|ENST00000433931,p.P821S|NM_001160302,p.P782S|uc002yqi.2,p.P821S|uc002yqh.2,p.P821S|ENST00000382499,p.P821S|NM_203446,p.P821S|ENST00000322229,p.P782S|uc002yqg.2,p.P777S|uc011ads.1,p.P777S	retained_intron, protein_coding, processed_transcript	uc011ads.1	nonsynonymous SNV	exon17	c.C2329T	p.P777S	FRGFLEGKVTFAPTYKYDLFSDDYD	FRGFLEGKVTFASTYKYDLFSDDYD	8.0	3.0	unscreened	-	3881_21:34030143-34030143 G>A_FRGFLEGKVTFASTYKYDLFSDDYD
8:61655273-61655273 C>T	1.0	3881	MELANOMA	-	-	-	-	CHD7	uc003xue.3,p.P428S|uc022aux.1,p.P428S|ENST00000423902,p.P428S|ENST00000524602,p.P428S|NM_017780,p.P428S|ENST00000525508,p.P428S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022aux.1	nonsynonymous SNV	exon1	c.C1282T	p.P428S	GSAGIPMEVGSYPNMPHPQPSHQPP	GSAGIPMEVGSYSNMPHPQPSHQPP	9.0	5.0	unscreened	-	3881_8:61655273-61655273 C>T_GSAGIPMEVGSYSNMPHPQPSHQPP
14:72196928-72196928 G>A	1.0	3881	MELANOMA	-	-	-	-	SIPA1L1	uc001xmv.3,p.D1612N|uc001xms.3,p.D1612N|uc001xmt.3,p.D1591N|NM_001284245,p.D1591N|ENST00000537413,p.D1066N|ENST00000358550,p.D1591N|uc001xmu.3,p.D1591N|uc010ttm.2,p.D1066N|NM_001284247,p.D1612N|NM_001284246,p.D1591N|ENST00000381232,p.D1591N|NM_015556,p.D1612N|ENST00000555818,p.D1612N	retained_intron, protein_coding, processed_transcript	uc010ttm.2	nonsynonymous SNV	exon16	c.G3196A	p.D1066N	SRASLLDQALPNDVLFSSTYPSLPK	SRASLLDQALPNNVLFSSTYPSLPK	8.0	4.0	unscreened	-	3881_14:72196928-72196928 G>A_SRASLLDQALPNNVLFSSTYPSLPK
19:53611653-53611653 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF415	ENST00000601493,p.E319K|uc002qaw.3,p.E549K|uc002qaz.3,p.E597K|ENST00000421033,p.E561K|uc010yds.2,p.E549K|ENST00000440291,p.E536K|uc010ydt.2,p.E549K|uc002qav.3,p.E561K|NM_001164309,p.E549K|NM_001136038,p.E549K|ENST00000500065,p.E549K|NM_018355,p.E549K|uc002qax.3,p.E597K|uc002qau.3,p.E536K|ENST00000455735,p.E597K|uc002qba.3,p.E319K|ENST00000448501,p.E597K|ENST00000243643,p.E549K|uc002qay.3,p.E536K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ydt.2	nonsynonymous SNV	exon4	c.G1645A	p.E549K	PNLFRHQIIHTKEKPYKRN	PNLFRHQIIHTKKKPYKRN	8.0	3.0	unscreened	-	3881_19:53611653-53611653 C>T_PNLFRHQIIHTKKKPYKRN
X:63412220-63412220 A>G	0.0	3881	MELANOMA	-	-	-	1	AMER1	NM_152424,p.V316A|uc022byb.1,p.V316A|ENST00000403336,p.V316A|uc004dvo.3,p.V316A|ENST00000374869,p.V316A|ENST00000330258,p.V316A	protein_coding	uc022byb.1	nonsynonymous SNV	exon1	c.T947C	p.V316A	PVGDPLSLLFGDVTSLKSFDSLTGC	PVGDPLSLLFGDATSLKSFDSLTGC	6.0	4.0	unscreened	-	3881_X:63412220-63412220 A>G_PVGDPLSLLFGDATSLKSFDSLTGC
7:82784260-82784260 G>A	1.0	3881	MELANOMA	-	-	-	-	PCLO	ENST00000333891,p.P566L|uc003uhv.2,p.P566L|NM_033026,p.P566L|NM_014510,p.P566L|uc003uhx.2,p.P566L|ENST00000423517,p.P566L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon2	c.C1697T	p.P566L	STKPVSQTGSGKPLQPPTVSPSAKQ	STKPVSQTGSGKLLQPPTVSPSAKQ	6.0	5.0	unscreened	-	3881_7:82784260-82784260 G>A_STKPVSQTGSGKLLQPPTVSPSAKQ
11:62406864-62406864 G>A	1.0	3881	MELANOMA	-	-	-	-	GANAB	ENST00000529737,p.P72L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000529737	nonsynonymous SNV	exon3	c.C215T	p.P72L	EPCWTLYSLVLIPSRSI	EPCWTLYSLVLILSRSI	10.0	2.0	unscreened	-	3881_11:62406864-62406864 G>A_EPCWTLYSLVLILSRSI
16:72827247-72827247 G>A	1.0	3881	MELANOMA	-	-	-	1	ZFHX3	ENST00000397992,p.P2198S|uc002fck.3,p.P3112S|NM_001164766,p.P2198S|uc002fcl.3,p.P2198S|NM_006885,p.P3112S|ENST00000268489,p.P3112S	retained_intron, protein_coding	uc002fcl.3	nonsynonymous SNV	exon8	c.C6592T	p.P2198S	MFDNTPLQALNLPTAYPALQGIPPV	MFDNTPLQALNLSTAYPALQGIPPV	7.0	7.0	unscreened	-	3881_16:72827247-72827247 G>A_MFDNTPLQALNLSTAYPALQGIPPV
6:167343257-167343257 C>T	1.0	3881	MELANOMA	-	-	-	-	RNASET2	NM_003730,p.G197D|ENST00000366855,p.G159D|ENST00000476238,p.G197D|ENST00000508775,p.G197D|uc003qve.3,p.G197D|ENST00000478180,p.G197D|uc003qvf.3,p.G105D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qvf.3	nonsynonymous SNV	exon9	c.G314A	p.G105D	LPPSQDEEVQTIGQIELCLTKQDQQ	LPPSQDEEVQTIDQIELCLTKQDQQ	8.0	10.0	-	-	3881_6:167343257-167343257 C>T_LPPSQDEEVQTIDQIELCLTKQDQQ
2:101874342-101874342 C>T	1.0	3881	MELANOMA	-	-	ID=COSM279375;OCCURENCE=1(large_intestine)	-	CNOT11	ENST00000289382,p.R202C|NM_017546,p.R202C|uc002taw.4,p.R202C	retained_intron, protein_coding	uc002taw.4	nonsynonymous SNV	exon2	c.C604T	p.R202C	LAPPRELFKKTPRQIALMDVGNMGQ	LAPPRELFKKTPCQIALMDVGNMGQ	8.0	3.0	unscreened	-	3881_2:101874342-101874342 C>T_LAPPRELFKKTPCQIALMDVGNMGQ
4:91230474-91230474 G>A	1.0	3881	MELANOMA	-	-	-	-	CCSER1	uc003hsw.3,p.E347K|NM_207491,p.E347K|ENST00000432775,p.E347K|ENST00000333691,p.E347K|uc003hsu.3,p.E347K|uc003hsv.4,p.E347K|ENST00000505073,p.E347K|NM_001145065,p.E347K|ENST00000509176,p.E347K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hsw.3	nonsynonymous SNV	exon2	c.G1039A	p.E347K	NSLPETSAANQKEVLLQIAELPATS	NSLPETSAANQKKVLLQIAELPATS	7.0	2.0	unscreened	-	3881_4:91230474-91230474 G>A_NSLPETSAANQKKVLLQIAELPATS
2:148715917-148715917 C>T	1.0	3881	MELANOMA	-	-	-	-	ORC4	uc010zbo.2,p.E39K|ENST00000264169,p.E113K|NM_001190879,p.E113K|uc021vqr.1,p.E113K|uc010zbr.2,p.E113K|uc002twk.3,p.E113K|ENST00000392857,p.E113K|NM_002552,p.E113K|ENST00000540442,p.E39K|ENST00000536575,p.E29K|uc002twi.3,p.E113K|NM_181741,p.E113K|NM_001190882,p.E39K|ENST00000535373,p.E113K|uc010zbq.2,p.E29K|ENST00000416719,p.E113K|ENST00000392858,p.E113K|NM_181742,p.E113K|ENST00000440042,p.E113K|ENST00000457954,p.E113K|uc002twj.3,p.E113K|NM_001190881,p.E29K	retained_intron, protein_coding, processed_transcript	uc021vqr.1	nonsynonymous SNV	exon7	c.G337A	p.E113K	GLLQINDKIALKEITRQLNLENVVG	GLLQINDKIALKKITRQLNLENVVG	9.0	2.0	unscreened	-	3881_2:148715917-148715917 C>T_GLLQINDKIALKKITRQLNLENVVG
17:7727199-7727199 C>T	1.0	3881	MELANOMA	-	-	-	-	DNAH2	uc002giu.1,p.R3793C|ENST00000389173,p.R3793C|NM_020877,p.R3793C|ENST00000572933,p.R3793C|ENST00000575105,p.R742C|uc010cnm.1,p.R731C	retained_intron, protein_coding, nonsense_mediated_decay	uc010cnm.1	nonsynonymous SNV	exon16	c.C2191T	p.R731C	NACNEMQRMLIVRSLRQDRVAFCVT	NACNEMQRMLIVCSLRQDRVAFCVT	8.0	8.0	unscreened	-	3881_17:7727199-7727199 C>T_NACNEMQRMLIVCSLRQDRVAFCVT
16:57056227-57056227 G>A	1.0	3881	MELANOMA	-	-	-	-	NLRC5	ENST00000262510,p.G119S|NM_032206,p.G119S|uc021tit.1,p.G119S|ENST00000539881,p.G119S|ENST00000436936,p.G119S|uc021tiu.1,p.G119S|ENST00000539144,p.G119S|ENST00000308149,p.G119S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tiu.1	nonsynonymous SNV	exon3	c.G355A	p.G119S	EGKSQPESQLHHGLKRPHQSCGSSP	EGKSQPESQLHHSLKRPHQSCGSSP	9.0	3.0	unscreened	-	3881_16:57056227-57056227 G>A_EGKSQPESQLHHSLKRPHQSCGSSP
2:101009766-101009766 G>A	1.0	3881	MELANOMA	-	-	-	-	CHST10	NM_004854,p.R338C|ENST00000264249,p.R338C|ENST00000542617,p.R386C|ENST00000409701,p.R338C|uc002tam.3,p.R338C	retained_intron, protein_coding, processed_transcript	uc002tam.3	nonsynonymous SNV	exon7	c.C1012T	p.R338C	GISKRDIRRLYARFEGDFKLFGYQK	GISKRDIRRLYACFEGDFKLFGYQK	5.0	7.0	unscreened	-	3881_2:101009766-101009766 G>A_GISKRDIRRLYACFEGDFKLFGYQK
7:82474693-82474693 C>A	0.0	3881	MELANOMA	-	-	-	-	PCLO	uc003uhu.1,p.G77V|uc003uhv.2,p.G4647V|uc003uht.1,p.G98V|NM_033026,p.G4647V|uc003uhx.2,p.G4647V|NM_014510,p.G4647V|ENST00000423517,p.G4647V|ENST00000333891,p.G4647V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon13	c.G13940T	p.G4647V	QSPLVLSSVVEKGSHVHSGPTSAGS	QSPLVLSSVVEKVSHVHSGPTSAGS	6.0	7.0	unscreened	-	3881_7:82474693-82474693 C>A_QSPLVLSSVVEKVSHVHSGPTSAGS
8:103220495-103220495 G>A	1.0	3881	MELANOMA	-	-	ID=COSM1700437;OCCURENCE=2(skin)	-	RRM2B	uc022azl.1,p.P380S|uc010mbv.2,p.P256S|NM_015713,p.P308S|NM_001172477,p.P380S|ENST00000519317,p.P96S|uc010mbw.1,p.P96S|NM_001172478,p.P256S|ENST00000395912,p.P256S|ENST00000251810,p.P308S|uc003ykn.3,p.P308S	retained_intron, protein_coding, nonsense_mediated_decay	uc022azl.1	nonsynonymous SNV	exon9	c.C1138T	p.P380S	ELGFSKVFQAENPFDFMENISLEGK	ELGFSKVFQAENSFDFMENISLEGK	6.0	9.0	-	-	3881_8:103220495-103220495 G>A_ELGFSKVFQAENSFDFMENISLEGK
17:70644967-70644967 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC39A11	uc002jja.3,p.D302N|ENST00000542342,p.D309N|uc002jjb.3,p.D309N|NM_139177,p.D302N|ENST00000255559,p.D302N|NM_001159770,p.D309N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jjb.3	nonsynonymous SNV	exon9	c.G925A	p.D309N	FAAGAMVYVVMDDIIPEAQISGNGK	FAAGAMVYVVMDNIIPEAQISGNGK	8.0	6.0	unscreened	-	3881_17:70644967-70644967 C>T_FAAGAMVYVVMDNIIPEAQISGNGK
10:111637573-111637573 G>A	1.0	3881	MELANOMA	-	-	-	-	XPNPEP1	uc009xxt.2,p.P432S|ENST00000322238,p.P432S|NM_001167604,p.P432S	retained_intron, protein_coding, processed_transcript	uc009xxt.2	nonsynonymous SNV	exon14	c.C1294T	p.P432S	VDLSFPTISSTGPNGAIIHYADGTT	VDLSFPTISSTGSNGAIIHYADGTT	9.0	2.0	unscreened	-	3881_10:111637573-111637573 G>A_VDLSFPTISSTGSNGAIIHYADGTT
21:37785511-37785511 C>T	1.0	3881	MELANOMA	-	-	-	-	CHAF1B	ENST00000314103,p.S464L|NM_005441,p.S464L|uc002yvj.3,p.S464L	protein_coding, processed_transcript	uc002yvj.3	nonsynonymous SNV	exon12	c.C1391T	p.S464L	ITPAVKSPLPGPSEEKTLQPSSQNT	ITPAVKSPLPGPLEEKTLQPSSQNT	7.0	2.0	unscreened	-	3881_21:37785511-37785511 C>T_ITPAVKSPLPGPLEEKTLQPSSQNT
17:48741100-48741100 G>A	0.0	3881	MELANOMA	-	-	ID=COSM189483;OCCURENCE=1(large_intestine)	-	ABCC3	uc002isl.3,p.A353T|ENST00000427699,p.A353T|ENST00000285238,p.A353T|NM_001144070,p.A353T|uc002ism.3,p.A35T|uc002isk.4,p.A353T|ENST00000505699,p.A353T|NM_003786,p.A353T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ism.3	nonsynonymous SNV	exon1	c.G103A	p.A35T	NPMAPSWWGFLVAGLMFLCSMMQSL	NPMAPSWWGFLVTGLMFLCSMMQSL	5.0	9.0	unscreened	-	3881_17:48741100-48741100 G>A_NPMAPSWWGFLVTGLMFLCSMMQSL
17:33689835-33689835 G>A	1.0	3881	MELANOMA	-	-	-	-	SLFN11	uc002hjh.4,p.S331L|ENST00000308377,p.S331L|NM_001104590,p.S331L|uc002hjg.4,p.S331L|ENST00000394566,p.S331L|uc010ctp.3,p.S331L|NM_001104589,p.S331L|uc010ctq.3,p.S331L|NM_001104587,p.S331L|uc010ctr.3,p.S331L|NM_001104588,p.S331L|NM_152270,p.S331L	retained_intron, protein_coding	uc010ctr.3	nonsynonymous SNV	exon3	c.C992T	p.S331L	PFCCAVFSEAPNSWIVEDKYVCSLT	PFCCAVFSEAPNLWIVEDKYVCSLT	8.0	4.0	unscreened	-	3881_17:33689835-33689835 G>A_PFCCAVFSEAPNLWIVEDKYVCSLT
16:69189805-69189805 C>T	1.0	3881	MELANOMA	-	-	-	-	CIRH1A	uc002ewr.2,p.S399F|uc002ews.4,p.S399F|ENST00000563094,p.S399F|ENST00000567500,p.S23F|NM_032830,p.S399F|uc002ewt.4,p.S316F|ENST00000314423,p.S399F|ENST00000562237,p.S413F	retained_intron, protein_coding, processed_transcript	uc002ewt.4	nonsynonymous SNV	exon11	c.C947T	p.S316F	TKGPENIICSCISPCGSWIAYSTVS	TKGPENIICSCIFPCGSWIAYSTVS	9.0	5.0	unscreened	-	3881_16:69189805-69189805 C>T_TKGPENIICSCIFPCGSWIAYSTVS
10:129902459-129902459 G>A	1.0	3881	MELANOMA	0.0005	-	-	-	MKI67	uc009yaw.1,p.R1699C|uc001lkf.3,p.R2189C|ENST00000368654,p.R2549C|uc001lke.3,p.R2549C|uc009yav.1,p.R2124C|NM_002417,p.R2549C|NM_001145966,p.R2189C|ENST00000368653,p.R2189C	protein_coding, processed_transcript	uc009yaw.1	nonsynonymous SNV	exon2	c.C5095T	p.R1699C	ASVTGSRRQLRTRKEKARALEDLVD	ASVTGSRRQLRTCKEKARALEDLVD	7.0	1.0	unscreened	-	3881_10:129902459-129902459 G>A_ASVTGSRRQLRTCKEKARALEDLVD
20:50292705-50292705 C>T	1.0	3881	MELANOMA	-	-	-	-	ATP9A	NM_006045,p.R281Q|uc010gih.1,p.R145Q|ENST00000311637,p.R145Q|ENST00000338821,p.R281Q|ENST00000402822,p.R160Q|uc002xwg.1,p.R281Q	protein_coding, processed_transcript	uc010gih.1	nonsynonymous SNV	exon5	c.G434A	p.R145Q	VVGVVLYTGRELRSVMNTSNPRSKI	VVGVVLYTGRELQSVMNTSNPRSKI	7.0	2.0	unscreened	-	3881_20:50292705-50292705 C>T_VVGVVLYTGRELQSVMNTSNPRSKI
14:55817860-55817860 C>T	1.0	3881	MELANOMA	-	-	-	-	FBXO34	uc010aoo.3,p.S251F|NM_017943,p.S251F|uc021rtk.1,p.S251F|ENST00000555280,p.S117F|ENST00000313833,p.S251F|uc001xbu.3,p.S251F|NM_152231,p.S251F|ENST00000440021,p.S251F	protein_coding, processed_transcript, nonsense_mediated_decay	uc021rtk.1	nonsynonymous SNV	exon1	c.C752T	p.S251F	SGQSRGVPAVSESYSAPGACEEPTE	SGQSRGVPAVSEFYSAPGACEEPTE	8.0	8.0	unscreened	-	3881_14:55817860-55817860 C>T_SGQSRGVPAVSEFYSAPGACEEPTE
10:17165640-17165640 T>C	1.0	3881	MELANOMA	-	-	-	-	CUBN	uc001ioo.3,p.T146A|NM_001081,p.T146A|ENST00000377823,p.T146A|ENST00000377833,p.T146A|ENST00000433666,p.T33A	protein_coding	uc001ioo.3	nonsynonymous SNV	exon5	c.A436G	p.T146A	KVCSSNPCQNGGTCLNLHDSFFCIC	KVCSSNPCQNGGACLNLHDSFFCIC	5.0	10.0	-	-	3881_10:17165640-17165640 T>C_KVCSSNPCQNGGACLNLHDSFFCIC
21:47552150-47552150 C>T	0.0	3881	MELANOMA	-	-	-	-	COL6A2	NM_001849,p.S915L|ENST00000300527,p.S915L|uc002zia.1,p.S915L	retained_intron, protein_coding, processed_transcript	uc002zia.1	nonsynonymous SNV	exon28	c.C2744T	p.S915L	EALETTQYLNSFSHVGAGVVHAINA	EALETTQYLNSFLHVGAGVVHAINA	9.0	2.0	unscreened	-	3881_21:47552150-47552150 C>T_EALETTQYLNSFLHVGAGVVHAINA
11:65373256-65373256 G>A	1.0	3881	MELANOMA	-	-	ID=COSM690000;OCCURENCE=1(lung)	-	MAP3K11	ENST00000530153,p.P346S|uc001oew.3,p.P603S|NM_002419,p.P603S|uc001oev.3,p.P19S|uc001oex.1,p.P110S|ENST00000309100,p.P603S|ENST00000532507,p.P19S|uc010rol.2,p.P346S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rol.2	nonsynonymous SNV	exon8	c.C1036T	p.P346S	YLDSDDSSPLGSPSTPPALNGNPPR	YLDSDDSSPLGSSSTPPALNGNPPR	8.0	3.0	unscreened	-	3881_11:65373256-65373256 G>A_YLDSDDSSPLGSSSTPPALNGNPPR
3:53777101-53777101 G>A	1.0	3881	MELANOMA	-	-	-	1	CACNA1D	uc003dgw.4,p.D626N|NM_001128840,p.D959N|ENST00000481478,p.D652N|ENST00000288139,p.D979N|uc003dgy.5,p.D959N|uc003dgv.5,p.D959N|NM_000720,p.D979N|ENST00000350061,p.D959N|uc003dgx.1,p.D107N|NM_001128839,p.D959N|uc003dgu.5,p.D979N|ENST00000422281,p.D959N	retained_intron, protein_coding, processed_transcript	uc003dgy.5	nonsynonymous SNV	exon22	c.G2875A	p.D959N	KGAFCRNYFNLLDMLVVGVSLVSFG	KGAFCRNYFNLLNMLVVGVSLVSFG	5.0	10.0	-	-	3881_3:53777101-53777101 G>A_KGAFCRNYFNLLNMLVVGVSLVSFG
19:52447954-52447954 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF613	ENST00000391794,p.S237L|uc002pxz.2,p.S273L|NM_024840,p.S237L|NM_001031721,p.S273L|uc002pya.2,p.S237L|ENST00000293471,p.S273L	protein_coding, processed_transcript	uc002pya.2	nonsynonymous SNV	exon6	c.C710T	p.S237L	ECTECDKAFRWKSQLNAHQKIHTGE	ECTECDKAFRWKLQLNAHQKIHTGE	5.0	8.0	unscreened	-	3881_19:52447954-52447954 C>T_ECTECDKAFRWKLQLNAHQKIHTGE
8:139890236-139890236 C>T	0.0	3881	MELANOMA	-	-	-	-	COL22A1	NM_152888,p.D139N|uc003yvd.3,p.D139N|ENST00000303045,p.D139N|ENST00000435777,p.D139N	protein_coding, processed_transcript	uc003yvd.3	nonsynonymous SNV	exon3	c.G415A	p.D139N	RSFSPHAGGRPRDRAYKQVAILLTD	RSFSPHAGGRPRNRAYKQVAILLTD	6.0	8.0	unscreened	-	3881_8:139890236-139890236 C>T_RSFSPHAGGRPRNRAYKQVAILLTD
6:119515055-119515055 G>A	1.0	3881	MELANOMA	-	-	-	-	MAN1A1	ENST00000368468,p.H405Y|NM_005907,p.H405Y|uc003pym.2,p.H405Y	protein_coding	uc003pym.2	nonsynonymous SNV	exon9	c.C1213T	p.H405Y	YLNPSSGQWGQHHVSVGGLGDSFYE	YLNPSSGQWGQHYVSVGGLGDSFYE	7.0	10.0	-	-	3881_6:119515055-119515055 G>A_YLNPSSGQWGQHYVSVGGLGDSFYE
7:92732256-92732256 G>A	1.0	3881	MELANOMA	-	-	-	-	SAMD9	ENST00000446617,p.S1052F|uc003umf.3,p.S1052F|uc022ahg.1,p.S1052F|NM_001193307,p.S1052F|ENST00000379958,p.S1052F|NM_017654,p.S1052F|uc003umg.3,p.S1052F	protein_coding	uc022ahg.1	nonsynonymous SNV	exon1	c.C3155T	p.S1052F	RDEHEGETGNWFSPFIEALHKDEGN	RDEHEGETGNWFFPFIEALHKDEGN	7.0	2.0	unscreened	-	3881_7:92732256-92732256 G>A_RDEHEGETGNWFFPFIEALHKDEGN
X:78216611-78216611 G>A	0.0	3881	MELANOMA	-	-	ID=COSM228769;OCCURENCE=1(skin)	-	P2RY10	NM_014499,p.M198I|ENST00000544091,p.M198I|ENST00000171757,p.M198I|uc022bzl.1,p.M198I|uc004edf.3,p.M198I|uc004ede.3,p.M198I|NM_198333,p.M198I	protein_coding, processed_transcript	uc022bzl.1	nonsynonymous SNV	exon1	c.G594A	p.M198I	GYKQMNAVALVGMITVAELAGFVIP	GYKQMNAVALVGIITVAELAGFVIP	6.0	6.0	unscreened	-	3881_X:78216611-78216611 G>A_GYKQMNAVALVGIITVAELAGFVIP
4:84194748-84194748 G>A	1.0	3881	MELANOMA	-	-	-	-	COQ2	ENST00000311469,p.P198L|NM_015697,p.P198L|ENST00000503915,p.P45L|ENST00000503391,p.P148L|ENST00000439031,p.P161L|uc003hog.3,p.P198L|ENST00000311461,p.P148L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003hog.3	nonsynonymous SNV	exon3	c.C593T	p.P198L	DYDKKVTRTANRPIAAGDISTFQSF	DYDKKVTRTANRLIAAGDISTFQSF	7.0	10.0	-	-	3881_4:84194748-84194748 G>A_DYDKKVTRTANRLIAAGDISTFQSF
11:120312464-120312464 C>T	1.0	3881	MELANOMA	-	-	-	1	ARHGEF12	ENST00000397843,p.R381C|NM_015313,p.R381C|uc009zau.1,p.R278C|uc021qrm.1,p.R362C|NM_001301084,p.R278C|uc001pxl.2,p.R381C|uc009zat.3,p.R362C|uc010rzn.1,p.R278C|ENST00000532993,p.R278C|ENST00000356641,p.R362C|NM_001198665,p.R362C	retained_intron, protein_coding	uc021qrm.1	nonsynonymous SNV	exon13	c.C1084T	p.R362C	CSCFQSIELLKSRPAHLAVFLHHVV	CSCFQSIELLKSCPAHLAVFLHHVV	9.0	8.0	-	-	3881_11:120312464-120312464 C>T_CSCFQSIELLKSCPAHLAVFLHHVV
11:47800677-47800677 A>T	1.0	3881	MELANOMA	-	-	-	-	NUP160	ENST00000530326,p.L1230I|ENST00000378460,p.L1431I|NM_015231,p.L1431I	protein_coding, processed_transcript	NM_015231	nonsynonymous SNV	exon36	c.T4291A	p.L1431I	YQQKVDKATRDLLYRRTL	YQQKVDKATRDLIYRRTL	9.0	3.0	unscreened	-	3881_11:47800677-47800677 A>T_YQQKVDKATRDLIYRRTL
19:39361829-39361829 C>T	0.0	3881	MELANOMA	-	-	-	-	RINL	NM_001195833,p.G164R|uc010xuo.2,p.G164R|ENST00000340740,p.G50R|ENST00000598904,p.G50R|ENST00000591812,p.G164R|NM_198445,p.G50R|uc002ojq.3,p.G50R	retained_intron, protein_coding, processed_transcript	uc010xuo.2	nonsynonymous SNV	exon7	c.G490A	p.G164R	PVQIGRVQQDTPGKVLSIVNQLYLE	PVQIGRVQQDTPRKVLSIVNQLYLE	7.0	4.0	unscreened	-	3881_19:39361829-39361829 C>T_PVQIGRVQQDTPRKVLSIVNQLYLE
12:10312582-10312582 G>A	0.0	3881	MELANOMA	-	-	-	-	OLR1	uc001qxo.1,p.S240L|NM_002543,p.S240L|ENST00000539518,p.S187L|ENST00000309539,p.S240L	retained_intron, protein_coding	uc001qxo.1	nonsynonymous SNV	exon6	c.C719T	p.S240L	FRVRGAVSQTYPSGTCAYIQRGAVY	FRVRGAVSQTYPLGTCAYIQRGAVY	6.0	8.0	unscreened	-	3881_12:10312582-10312582 G>A_FRVRGAVSQTYPLGTCAYIQRGAVY
17:80130690-80130690 G>A	1.0	3881	MELANOMA	-	-	-	-	CCDC57	uc010dik.1,p.S26F|ENST00000389641,p.S518F|uc002kdx.1,p.S518F|NM_198082,p.S518F|ENST00000392343,p.S518F|ENST00000392347,p.S518F|uc002kdz.1,p.S518F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dik.1	nonsynonymous SNV	exon4	c.C77T	p.S26F	RQHEEEISKDFPSSEIQRLREQNTS	RQHEEEISKDFPFSEIQRLREQNTS	9.0	5.0	unscreened	-	3881_17:80130690-80130690 G>A_RQHEEEISKDFPFSEIQRLREQNTS
X:114242564-114242564 T>A	0.0	3881	MELANOMA	-	-	-	-	IL13RA2	ENST00000243213,p.S310C|NM_000640,p.S310C|uc004epx.3,p.S310C|uc010nqd.1,p.S310C|ENST00000371936,p.S310C	protein_coding, processed_transcript	uc010nqd.1	nonsynonymous SNV	exon8	c.A928T	p.S310C	TNETRQLCFVVRSKVNIYCSDDGIW	TNETRQLCFVVRCKVNIYCSDDGIW	10.0	6.0	unscreened	-	3881_X:114242564-114242564 T>A_TNETRQLCFVVRCKVNIYCSDDGIW
16:70935061-70935061 G>A	0.0	3881	MELANOMA	-	-	-	-	HYDIN	ENST00000393567,p.P2965L|uc031qwy.1,p.P2965L|NM_001270974,p.P2965L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon53	c.C8894T	p.P2965L	SRVVLLRNVTLLPVAWRITSLEHLG	SRVVLLRNVTLLLVAWRITSLEHLG	5.0	1.0	unscreened	-	3881_16:70935061-70935061 G>A_SRVVLLRNVTLLLVAWRITSLEHLG
17:25639357-25639357 C>T	1.0	3881	MELANOMA	-	-	-	-	WSB1	uc002gzd.1,p.P410S|ENST00000262394,p.P410S|uc002gze.1,p.P264S|NM_134265,p.P264S|NM_015626,p.P410S|ENST00000348811,p.P264S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gze.1	nonsynonymous SNV	exon7	c.C790T	p.P264S	VMPTQEVQELPIPSKLLEFLSYRI	VMPTQEVQELPISSKLLEFLSYRI	10.0	7.0	unscreened	-	3881_17:25639357-25639357 C>T_VMPTQEVQELPISSKLLEFLSYRI
X:79999700-79999700 A>G	0.0	3881	MELANOMA	-	-	-	-	BRWD3	ENST00000373275,p.L215P|NM_153252,p.L215P|uc004edp.3,p.L44P|uc004edt.3,p.L215P	protein_coding, processed_transcript	uc004edt.3	nonsynonymous SNV	exon8	c.T644C	p.L215P	LVKIWATDDGRLLATLRGHSAEISD	LVKIWATDDGRLPATLRGHSAEISD	8.0	3.0	unscreened	-	3881_X:79999700-79999700 A>G_LVKIWATDDGRLPATLRGHSAEISD
6:110086364-110086364 G>A	1.0	3881	MELANOMA	-	-	-	-	FIG4	ENST00000230124,p.R528K|NM_014845,p.R528K|uc003ptt.2,p.R528K|uc011eau.1,p.R251K|ENST00000441478,p.R251K	protein_coding	uc011eau.1	nonsynonymous SNV	exon9	c.G752A	p.R251K	DKPNLQFDTDAVRLFEELYEDHGDT	DKPNLQFDTDAVKLFEELYEDHGDT	6.0	10.0	-	-	3881_6:110086364-110086364 G>A_DKPNLQFDTDAVKLFEELYEDHGDT
X:154299923-154299923 G>A	1.0	3881	MELANOMA	-	-	-	-	BRCC3	ENST00000411985,p.E41K	protein_coding, nonsense_mediated_decay	ENST00000411985	nonsynonymous SNV	exon1	c.G121A	p.E41K	TEKEEVMGLCIGEVDAVRIVHIHSV	TEKEEVMGLCIGKVDAVRIVHIHSV	8.0	6.0	unscreened	-	3881_X:154299923-154299923 G>A_TEKEEVMGLCIGKVDAVRIVHIHSV
X:107938630-107938630 G>A	0.0	3881	MELANOMA	-	-	-	-	COL4A5	NM_000495,p.S1646N|uc022ccg.2,p.S1652N|ENST00000328300,p.S1652N|ENST00000361603,p.S1646N	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon52	c.G4955A	p.S1652N	GRGTCNYYANSYSFWLATVDVSDMF	GRGTCNYYANSYNFWLATVDVSDMF	8.0	4.0	unscreened	-	3881_X:107938630-107938630 G>A_GRGTCNYYANSYNFWLATVDVSDMF
3:33109740-33109740 G>A	1.0	3881	MELANOMA	-	-	-	-	GLB1	NM_001079811,p.L117F|uc003cfi.1,p.L147F|ENST00000307363,p.L147F|ENST00000440656,p.L16F|ENST00000445488,p.L195F|uc003cfh.1,p.L117F|uc011axk.1,p.L195F|NM_000404,p.L147F|ENST00000399402,p.L117F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011axk.1	nonsynonymous SNV	exon5	c.C583T	p.L195F	LPAWLLEKESILLRSSDPDYLAAVD	LPAWLLEKESILFRSSDPDYLAAVD	10.0	9.0	-	-	3881_3:33109740-33109740 G>A_LPAWLLEKESILFRSSDPDYLAAVD
19:22157331-22157331 C>T	1.0	3881	MELANOMA	-	-	ID=COSM108489;OCCURENCE=1(skin)	-	ZNF208	uc021urr.1,p.G169R|NM_007153,p.G169R|ENST00000397126,p.G169R	protein_coding	uc021urr.1	nonsynonymous SNV	exon4	c.G505A	p.G169R	CSNSNRHKIRHTGKKHLQCKEYVRS	CSNSNRHKIRHTRKKHLQCKEYVRS	8.0	3.0	unscreened	-	3881_19:22157331-22157331 C>T_CSNSNRHKIRHTRKKHLQCKEYVRS
11:61070609-61070609 G>A	1.0	3881	MELANOMA	-	-	-	-	DDB1	NM_001923,p.P951S|ENST00000301764,p.P951S|ENST00000539332,p.P117S|uc010rle.2,p.P262S|uc010rlf.1,p.P951S|ENST00000450997,p.P262S|ENST00000540166,p.P951S|uc001nrc.5,p.P951S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rlf.1	nonsynonymous SNV	exon25	c.C2851T	p.P951S	EGNFEEIARDFNPNWMSAVEILDDD	EGNFEEIARDFNSNWMSAVEILDDD	10.0	8.0	unscreened	-	3881_11:61070609-61070609 G>A_EGNFEEIARDFNSNWMSAVEILDDD
16:2129381-2129381 C>T	1.0	3881	MELANOMA	-	-	-	1	TSC2	NM_001114382,p.S1079L|uc002cop.3,p.S835L|uc010uvv.2,p.S999L|NM_001077183,p.S1035L|uc010bsd.3,p.S1079L|ENST00000401874,p.S1035L|uc002coo.3,p.S1035L|ENST00000219476,p.S1079L|uc002con.3,p.S1079L|ENST00000568454,p.S1046L|uc010uvw.2,p.S987L|ENST00000382538,p.S987L|NM_000548,p.S1079L|ENST00000353929,p.S1036L|ENST00000439673,p.S999L|ENST00000350773,p.S1079L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uvw.2	nonsynonymous SNV	exon26	c.C2960T	p.S987L	VTVTTSVGTGTRSLLGLDSGELQSG	VTVTTSVGTGTRLLLGLDSGELQSG	9.0	5.0	unscreened	-	3881_16:2129381-2129381 C>T_VTVTTSVGTGTRLLLGLDSGELQSG
11:209917-209917 T>G	1.0	3881	MELANOMA	-	-	-	-	RIC8A	NM_001286134,p.S215A|ENST00000526104,p.S215A|uc001lof.3,p.S215A|NM_021932,p.S215A|ENST00000325207,p.S215A|ENST00000527696,p.S209A|uc001loh.3,p.S208A|uc001log.3,p.S215A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001loh.3	nonsynonymous SNV	exon1	c.T622G	p.S208A	TPEGNPPPTLLPSQETERAMEILKV	TPEGNPPPTLLPAQETERAMEILKV	8.0	5.0	unscreened	-	3881_11:209917-209917 T>G_TPEGNPPPTLLPAQETERAMEILKV
22:31600565-31600565 T>C	1.0	3881	MELANOMA	-	-	-	-	RNF185	uc011alm.2,p.I129T|NM_152267,p.I191T|ENST00000266252,p.I135T|ENST00000326132,p.I191T|uc003akb.3,p.I191T|uc003ake.3,p.I135T|ENST00000426256,p.I129T|ENST00000518626,p.I191T|NM_001135825,p.I135T	retained_intron, protein_coding, nonsense_mediated_decay	uc011alm.2	nonsynonymous SNV	exon6	c.T386C	p.I129T	LFVALVIMFWLLIA	LFVALVIMFWLLTA	7.0	4.0	unscreened	-	3881_22:31600565-31600565 T>C_LFVALVIMFWLLTA
12:22086798-22086798 C>T	0.0	3881	MELANOMA	-	-	-	-	ABCC9	uc001rfi.1,p.G68R|uc001rfl.1,p.G68R|uc001rfk.3,p.G68R|ENST00000538350,p.G68R|ENST00000345162,p.G68R|uc001rfh.3,p.G68R|ENST00000261201,p.G68R|ENST00000326684,p.G68R|NM_005691,p.G68R|NM_020297,p.G68R|ENST00000261200,p.G68R	protein_coding	uc001rfl.1	nonsynonymous SNV	exon4	c.G202A	p.G68R	VQIHHNTWLHFPGHNLRWILTFALL	VQIHHNTWLHFPRHNLRWILTFALL	5.0	5.0	unscreened	-	3881_12:22086798-22086798 C>T_VQIHHNTWLHFPRHNLRWILTFALL
20:3804589-3804589 C>T	1.0	3881	MELANOMA	-	-	-	-	AP5S1	uc021wab.1,p.S83F|NM_001204447,p.S83F|NM_001204446,p.S83F|ENST00000246041,p.S83F|ENST00000379567,p.S83F|NM_018347,p.S83F|uc002wju.2,p.S83F|uc002wjs.2,p.S83F	protein_coding	uc021wab.1	nonsynonymous SNV	exon3	c.C248T	p.S83F	ASGRPPMDLQPQSSDEQVPLHEAPR	ASGRPPMDLQPQFSDEQVPLHEAPR	6.0	9.0	-	-	3881_20:3804589-3804589 C>T_ASGRPPMDLQPQFSDEQVPLHEAPR
5:140202018-140202018 G>A	0.0	3881	MELANOMA	-	-	ID=COSM117518,COSM205060;OCCURENCE=1(ovary),1(large_intestine)	-	PCDHA5	NM_031501,p.E220K|uc003lhj.1,p.E220K|NM_018908,p.E220K|ENST00000378126,p.E220K|uc003lhk.1,p.E220K|ENST00000529859,p.E220K|uc003lhl.2,p.E220K|ENST00000529619,p.E220K	protein_coding	uc003lhl.2	nonsynonymous SNV	exon1	c.G658A	p.E220K	RLLVIATDGGKPELTGTVQLLINVL	RLLVIATDGGKPKLTGTVQLLINVL	5.0	6.0	unscreened	-	3881_5:140202018-140202018 G>A_RLLVIATDGGKPKLTGTVQLLINVL
16:29821492-29821492 C>T	1.0	3881	MELANOMA	-	-	-	-	MAZ	ENST00000566906,p.P113S|ENST00000563402,p.P115S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000566906	nonsynonymous SNV	exon3	c.C337T	p.P113S	GSSSSPSHSCGLPLGGGGGACELSA	GSSSSPSHSCGLSLGGGGGACELSA	10.0	2.0	unscreened	-	3881_16:29821492-29821492 C>T_GSSSSPSHSCGLSLGGGGGACELSA
17:43111675-43111675 G>A	1.0	3881	MELANOMA	-	-	ID=COSM1383761;OCCURENCE=2(large_intestine)	-	DCAKD	uc010dab.1,p.R66C|NM_001288654,p.R66C|NM_024819,p.R66C|ENST00000593094,p.R66C|ENST00000588499,p.R66C|uc002ihy.3,p.R66C|ENST00000342350,p.R66C|uc002ihx.2,p.R66C|uc010daa.1,p.R66C|ENST00000310604,p.R66C|ENST00000452796,p.R66C|NM_001128631,p.R66C|NM_001288655,p.R66C	protein_coding, processed_transcript	uc010dab.1	nonsynonymous SNV	exon3	c.C196T	p.R66C	GTEVLLENGDINRKVLGDLIFNQPD	GTEVLLENGDINCKVLGDLIFNQPD	8.0	9.0	-	-	3881_17:43111675-43111675 G>A_GTEVLLENGDINCKVLGDLIFNQPD
19:41115712-41115712 C>T	0.0	3881	MELANOMA	-	-	-	-	LTBP4	ENST00000396819,p.P540L|uc002oog.1,p.P570L|ENST00000308370,p.P607L|uc002ooi.1,p.P540L|uc002ooh.1,p.P607L|ENST00000545697,p.P60L|ENST00000204005,p.P570L	retained_intron, protein_coding, processed_transcript	uc002ooi.1	nonsynonymous SNV	exon11	c.C1619T	p.P540L	PPPCAPGRCENSPGSFRCVCGPGFR	PPPCAPGRCENSLGSFRCVCGPGFR	8.0	2.0	unscreened	-	3881_19:41115712-41115712 C>T_PPPCAPGRCENSLGSFRCVCGPGFR
9:72833327-72833327 G>A	1.0	3881	MELANOMA	-	-	-	-	MAMDC2	ENST00000377182,p.G576R|NM_153267,p.G576R|uc004ahm.2,p.G576R	protein_coding, processed_transcript	uc004ahm.2	nonsynonymous SNV	exon12	c.G1726A	p.G576R	GQKARLLSRPLRGVSGKHCLTFFYH	GQKARLLSRPLRRVSGKHCLTFFYH	2.0	10.0	unscreened	-	3881_9:72833327-72833327 G>A_GQKARLLSRPLRRVSGKHCLTFFYH
13:93879740-93879740 C>T	0.0	3881	MELANOMA	-	-	-	-	GPC6	uc010tig.1,p.P11S|NM_005708,p.P11S|ENST00000377047,p.P11S|uc001vlt.3,p.P11S	protein_coding	uc010tig.1	nonsynonymous SNV	exon1	c.C31T	p.P11S	MPSWIGAVILPLLGLLLSLPAGA	MPSWIGAVILSLLGLLLSLPAGA	5.0	6.0	unscreened	-	3881_13:93879740-93879740 C>T_MPSWIGAVILSLLGLLLSLPAGA
10:106074503-106074503 G>A	1.0	3881	MELANOMA	-	-	-	-	ITPRIP	NM_001272013,p.A436V|uc001kyf.4,p.A436V|uc001kyg.4,p.A436V|NM_033397,p.A436V|uc001kye.4,p.A436V|NM_001272012,p.A436V|ENST00000358187,p.A436V|uc021pxv.1,p.A436V|ENST00000278071,p.A436V|ENST00000337478,p.A436V	protein_coding, processed_transcript	uc021pxv.1	nonsynonymous SNV	exon1	c.C1307T	p.A436V	GPSGLSSYHLKTALLHLLLLRQAAD	GPSGLSSYHLKTVLLHLLLLRQAAD	5.0	9.0	unscreened	-	3881_10:106074503-106074503 G>A_GPSGLSSYHLKTVLLHLLLLRQAAD
10:111637573-111637573 G>A	1.0	3881	MELANOMA	-	-	-	-	XPNPEP1	NM_020383,p.P432S|uc001kyq.2,p.P318S|ENST00000369683,p.P318S|uc001kyp.2,p.P432S|ENST00000502935,p.P432S|ENST00000369680,p.P389S	retained_intron, protein_coding, processed_transcript	uc001kyq.2	nonsynonymous SNV	exon12	c.C952T	p.P318S	VDLSFPTISSTGPNGAIIHYAPVPE	VDLSFPTISSTGSNGAIIHYAPVPE	9.0	2.0	unscreened	-	3881_10:111637573-111637573 G>A_VDLSFPTISSTGSNGAIIHYAPVPE
1:12004698-12004698 C>T	1.0	3881	MELANOMA	-	-	-	-	PLOD1	ENST00000449038,p.R66C|uc010obb.2,p.R66C|ENST00000376369,p.R66C	protein_coding, processed_transcript	uc010obb.2	nonsynonymous SNV	exon2	c.C196T	p.R66C	RGSPSPSVSSIPRFWIPGSDNLLVL	RGSPSPSVSSIPCFWIPGSDNLLVL	10.0	9.0	-	-	3881_1:12004698-12004698 C>T_RGSPSPSVSSIPCFWIPGSDNLLVL
5:102353111-102353111 C>T	1.0	3881	MELANOMA	-	-	-	-	PAM	uc011cuz.2,p.T705I|uc003kns.3,p.T695I|NM_138821,p.T695I|NM_001177306,p.T802I|uc003knu.3,p.T802I|uc003knz.3,p.T42I|uc003knw.3,p.T802I|NM_138822,p.T802I|ENST00000379787,p.T182I|ENST00000304400,p.T802I|NM_138766,p.T802I|ENST00000438793,p.T802I|ENST00000348126,p.T695I|ENST00000274392,p.T705I|ENST00000455264,p.T802I|NM_000919,p.T802I|uc003knv.3,p.T802I|ENST00000346918,p.T802I|uc003knt.3,p.T802I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cuz.2	nonsynonymous SNV	exon20	c.C2114T	p.T705I	DGTVYIGDAHTNTVWKFTLTEKLEH	DGTVYIGDAHTNIVWKFTLTEKLEH	9.0	7.0	unscreened	-	3881_5:102353111-102353111 C>T_DGTVYIGDAHTNIVWKFTLTEKLEH
X:154274843-154274843 G>A	0.0	3881	MELANOMA	-	-	-	-	FUNDC2	ENST00000456179,p.G63E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000456179	nonsynonymous SNV	exon2	c.G188A	p.G63E	KVGKLAATAVGGGFFLLQLATLTFA	KVGKLAATAVGGEFFLLQLATLTFA	9.0	6.0	unscreened	-	3881_X:154274843-154274843 G>A_KVGKLAATAVGGEFFLLQLATLTFA
11:77728096-77728096 G>A	1.0	3881	MELANOMA	-	-	-	-	KCTD14	NM_023930,p.P104L|ENST00000533144,p.P74L|ENST00000353172,p.P104L|uc001oyw.4,p.P104L|NM_001282406,p.P74L	protein_coding	uc001oyw.4	nonsynonymous SNV	exon2	c.C311T	p.P104L	YLRTGQVPTQHIPEVYREAQFYEIK	YLRTGQVPTQHILEVYREAQFYEIK	8.0	4.0	unscreened	-	3881_11:77728096-77728096 G>A_YLRTGQVPTQHILEVYREAQFYEIK
X:154274843-154274843 G>A	0.0	3881	MELANOMA	-	-	-	-	FUNDC2	ENST00000369498,p.G115E|NM_023934,p.G115E|uc004fmw.3,p.G115E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004fmw.3	nonsynonymous SNV	exon3	c.G344A	p.G115E	KVGKLAATAVGGGFFLLQLANHTGY	KVGKLAATAVGGEFFLLQLANHTGY	9.0	6.0	unscreened	-	3881_X:154274843-154274843 G>A_KVGKLAATAVGGEFFLLQLANHTGY
5:32230360-32230360 G>A	1.0	3881	MELANOMA	-	-	-	-	MTMR12	ENST00000280285,p.L536F|uc010iuk.3,p.L536F|NM_001294344,p.L480F|ENST00000264934,p.L480F|NM_001294343,p.L536F|NM_001040446,p.L590F|uc010iul.3,p.L480F|uc003jhq.3,p.L590F|ENST00000382142,p.L590F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iul.3	nonsynonymous SNV	exon14	c.C1438T	p.L480F	FFREETDHLIKNLLGKRISKLINSS	FFREETDHLIKNFLGKRISKLINSS	9.0	6.0	unscreened	-	3881_5:32230360-32230360 G>A_FFREETDHLIKNFLGKRISKLINSS
3:36899123-36899123 A>T	1.0	3881	MELANOMA	-	-	-	-	TRANK1	ENST00000429976,p.L653Q|NM_014831,p.L653Q|ENST00000301807,p.L103Q|ENST00000428977,p.L103Q|uc003cgj.3,p.L653Q	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon12	c.T1958A	p.L653Q	FKSVPCGATARTLPEGSAVPDSWET	FKSVPCGATARTQPEGSAVPDSWET	7.0	8.0	unscreened	-	3881_3:36899123-36899123 A>T_FKSVPCGATARTQPEGSAVPDSWET
1:226474059-226474059 G>A	1.0	3881	MELANOMA	-	-	ID=COSM282430;OCCURENCE=1(large_intestine),3(endometrium)	-	LIN9	NM_001270410,p.R115W|ENST00000328205,p.R183W|ENST00000366808,p.R238W|uc001hqa.3,p.R183W|NM_173083,p.R183W|NM_001270409,p.R148W|uc001hqb.3,p.R148W|uc009xel.2,p.R148W|ENST00000366801,p.R132W|ENST00000460719,p.R143W|ENST00000481685,p.R148W|uc001hqc.4,p.R115W	protein_coding	uc009xel.2	nonsynonymous SNV	exon5	c.C442T	p.R148W	TRKLTRVEWGKIRRLMGKPRRCSSA	TRKLTRVEWGKIWRLMGKPRRCSSA	6.0	9.0	-	-	3881_1:226474059-226474059 G>A_TRKLTRVEWGKIWRLMGKPRRCSSA
11:101834066-101834066 C>T	1.0	3881	MELANOMA	-	-	-	-	KIAA1377	uc001pgn.3,p.S723L|uc009yxa.1,p.S568L|NM_020802,p.S767L|uc001pgm.3,p.S767L|ENST00000537689,p.S568L|ENST00000263468,p.S767L|uc010run.2,p.S568L	protein_coding, nonsense_mediated_decay	uc010run.2	nonsynonymous SNV	exon3	c.C1703T	p.S568L	KIIRKPGSAKVQSGFICTNRKGAVI	KIIRKPGSAKVQLGFICTNRKGAVI	5.0	6.0	unscreened	-	3881_11:101834066-101834066 C>T_KIIRKPGSAKVQLGFICTNRKGAVI
1:176708787-176708787 C>T	0.0	3881	MELANOMA	-	-	-	-	PAPPA2	uc001gkz.3,p.A1275V|ENST00000367662,p.A1275V|NM_020318,p.A1275V	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon13	c.C3824T	p.A1275V	VWLKVCFNRPGEARAIFIFLTTDGL	VWLKVCFNRPGEVRAIFIFLTTDGL	1.0	10.0	unscreened	-	3881_1:176708787-176708787 C>T_VWLKVCFNRPGEVRAIFIFLTTDGL
5:140250261-140250261 G>A	1.0	3881	MELANOMA	-	-	-	-	PCDHA11	uc003lia.2,p.E525K|NM_018902,p.E525K|ENST00000398640,p.E525K|NM_031861,p.E525K|uc011dae.2,p.E525K	protein_coding	uc011dae.2	nonsynonymous SNV	exon1	c.G1573A	p.E525K	SGKVYALQPLDHEELELLQFQVSAR	SGKVYALQPLDHKELELLQFQVSAR	5.0	5.0	unscreened	-	3881_5:140250261-140250261 G>A_SGKVYALQPLDHKELELLQFQVSAR
7:98543406-98543406 C>T	0.0	3881	MELANOMA	-	-	-	1	TRRAP	ENST00000359863,p.P1504S|uc003upp.3,p.P1504S|NM_001244580,p.P1504S	retained_intron, protein_coding	uc003upp.3	nonsynonymous SNV	exon32	c.C4510T	p.P1504S	ESISECGRCPLSPFCQFEEMKICSA	ESISECGRCPLSSFCQFEEMKICSA	8.0	7.0	unscreened	-	3881_7:98543406-98543406 C>T_ESISECGRCPLSSFCQFEEMKICSA
20:3127574-3127574 G>A	1.0	3881	MELANOMA	-	-	-	-	FASTKD5	uc002whz.4,p.L715F|uc021vzx.1,p.L715F|NM_021826,p.L715F|ENST00000380266,p.L715F	protein_coding	uc021vzx.1	nonsynonymous SNV	exon1	c.C2143T	p.L715F	NRNQYCYGSRDLLGLHNMKRRQLAR	NRNQYCYGSRDLFGLHNMKRRQLAR	7.0	1.0	unscreened	-	3881_20:3127574-3127574 G>A_NRNQYCYGSRDLFGLHNMKRRQLAR
4:141471398-141471398 G>A	1.0	3881	MELANOMA	-	-	-	-	ELMOD2	uc003iik.3,p.E251K|ENST00000323570,p.E251K|NM_153702,p.E251K	retained_intron, protein_coding	uc003iik.3	nonsynonymous SNV	exon9	c.G751A	p.E251K	EHFHQFYCYLVYEFDKFWFEEEPES	EHFHQFYCYLVYKFDKFWFEEEPES	10.0	2.0	unscreened	-	3881_4:141471398-141471398 G>A_EHFHQFYCYLVYKFDKFWFEEEPES
8:29194569-29194569 G>A	1.0	3881	MELANOMA	-	-	-	-	DUSP4	NM_001394,p.P387S|ENST00000240101,p.P296S|ENST00000240100,p.P387S|uc003xhm.3,p.P387S|NM_057158,p.P296S|uc003xhl.3,p.P296S	protein_coding	uc003xhm.3	nonsynonymous SNV	exon4	c.C1159T	p.P387S	HSAPSSLPYLHSPITTSPSC	HSAPSSLPYLHSSITTSPSC	10.0	10.0	-	-	3881_8:29194569-29194569 G>A_HSAPSSLPYLHSSITTSPSC
22:50955889-50955889 C>T	1.0	3881	MELANOMA	-	-	-	-	NCAPH2	uc003blr.4,p.L82F|ENST00000299821,p.L82F|ENST00000395698,p.L82F|NM_152299,p.L82F|NM_014551,p.L82F|uc003blq.4,p.L82F|NM_001185011,p.L82F|uc003blv.3,p.L82F|ENST00000420993,p.L82F|ENST00000395701,p.L82F|uc003blx.4,p.L82F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003blx.4	nonsynonymous SNV	exon3	c.C244T	p.L82F	KVEYLYSLVYQALDFISGKRRAKQL	KVEYLYSLVYQAFDFISGKRRAKQL	7.0	4.0	unscreened	-	3881_22:50955889-50955889 C>T_KVEYLYSLVYQAFDFISGKRRAKQL
22:50955889-50955889 C>T	1.0	3881	MELANOMA	-	-	-	-	NCAPH2	ENST00000523045,p.L48F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000523045	nonsynonymous SNV	exon2	c.C142T	p.L48F	EVEYLYSLVYQALDFISGKRRAKQL	EVEYLYSLVYQAFDFISGKRRAKQL	7.0	4.0	unscreened	-	3881_22:50955889-50955889 C>T_EVEYLYSLVYQAFDFISGKRRAKQL
12:113446990-113446990 C>T	1.0	3881	MELANOMA	-	-	-	-	OAS2	uc001tui.1,p.S665F|NM_016817,p.S665F|ENST00000342315,p.S665F|ENST00000392583,p.S665F|uc001tuj.3,p.S665F|NM_002535,p.S665F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001tuj.3	nonsynonymous SNV	exon10	c.C1994T	p.S665F	WHLLAKEAKEWLSSPCFKDGTGNPI	WHLLAKEAKEWLFSPCFKDGTGNPI	10.0	7.0	unscreened	-	3881_12:113446990-113446990 C>T_WHLLAKEAKEWLFSPCFKDGTGNPI
7:56082778-56082778 G>A	1.0	3881	MELANOMA	-	-	-	-	PSPH	ENST00000395471,p.H170Y|ENST00000437355,p.H170Y|NM_004577,p.H170Y|uc003trj.3,p.H199Y|ENST00000275605,p.H170Y|ENST00000421626,p.H170Y|uc003tri.3,p.H170Y|uc003trh.3,p.H170Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003trj.3	nonsynonymous SNV	exon5	c.C595T	p.H199Y	KGKVIKLLKEKFHFKKIIMIGDGAT	KGKVIKLLKEKFYFKKIIMIGDGAT	7.0	5.0	unscreened	-	3881_7:56082778-56082778 G>A_KGKVIKLLKEKFYFKKIIMIGDGAT
22:50869663-50869663 C>T	1.0	3881	MELANOMA	-	-	-	-	PPP6R2	uc003blb.2,p.A396V|NM_001242900,p.A396V|NM_014678,p.A396V|uc003bla.2,p.A397V|NM_001242899,p.A397V|ENST00000395741,p.A397V|NM_001242898,p.A396V|ENST00000359139,p.A396V|uc003blc.3,p.A396V|uc003bky.2,p.A396V|ENST00000395744,p.A396V|ENST00000216061,p.A396V|uc003bkz.2,p.A396V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003blc.3	nonsynonymous SNV	exon11	c.C1187T	p.A396V	NNFLHFQVELCIAAILSHAAREERT	NNFLHFQVELCIVAILSHAAREERT	8.0	3.0	unscreened	-	3881_22:50869663-50869663 C>T_NNFLHFQVELCIVAILSHAAREERT
20:23805933-23805933 C>T	1.0	3881	MELANOMA	-	-	-	-	CST2	NM_001322,p.D86N|ENST00000304725,p.D86N|uc002wtq.1,p.D86N	protein_coding	uc002wtq.1	nonsynonymous SNV	exon2	c.G256A	p.D86N	REQIVGGVNYFFDIEVGRTICTKSQ	REQIVGGVNYFFNIEVGRTICTKSQ	9.0	5.0	unscreened	-	3881_20:23805933-23805933 C>T_REQIVGGVNYFFNIEVGRTICTKSQ
3:56766298-56766298 G>A	1.0	3881	MELANOMA	-	-	-	-	ARHGEF3	NM_001128615,p.S431F|ENST00000413728,p.S405F|uc003dif.2,p.S405F|NM_001289698,p.S405F|uc011bev.1,p.S370F|NM_019555,p.S399F|ENST00000296315,p.S399F|uc003dih.2,p.S431F|ENST00000338458,p.S431F|uc011bew.1,p.S399F|uc003dig.2,p.S399F|NM_001128616,p.S405F|uc010hmy.1,p.S197F|ENST00000497267,p.S370F|ENST00000496106,p.S405F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bew.1	nonsynonymous SNV	exon10	c.C1196T	p.S399F	EDLQDGEVRLGGSLRGAFSNNERIK	EDLQDGEVRLGGFLRGAFSNNERIK	7.0	9.0	-	-	3881_3:56766298-56766298 G>A_EDLQDGEVRLGGFLRGAFSNNERIK
5:178562953-178562953 G>A	0.0	3881	MELANOMA	-	-	-	-	ADAMTS2	uc003mjw.3,p.S681F|ENST00000251582,p.S681F|NM_014244,p.S681F	retained_intron, protein_coding	uc003mjw.3	nonsynonymous SNV	exon13	c.C2042T	p.S681F	SMKRMVHDGTRCSYKDAFSLCVRGD	SMKRMVHDGTRCFYKDAFSLCVRGD	6.0	5.0	unscreened	-	3881_5:178562953-178562953 G>A_SMKRMVHDGTRCFYKDAFSLCVRGD
1:55544236-55544236 G>A	1.0	3881	MELANOMA	-	-	-	-	USP24	uc021onw.1,p.S2430F|ENST00000407756,p.S2270F|NM_015306,p.S2430F|uc001cyg.4,p.S2264F|ENST00000294383,p.S2430F	retained_intron, protein_coding, processed_transcript	uc021onw.1	nonsynonymous SNV	exon61	c.C7289T	p.S2430F	MVVYCCFCNEHFSFTMLHFIKNQLE	MVVYCCFCNEHFFFTMLHFIKNQLE	9.0	9.0	-	-	3881_1:55544236-55544236 G>A_MVVYCCFCNEHFFFTMLHFIKNQLE
7:98543406-98543406 C>T	0.0	3881	MELANOMA	-	-	-	1	TRRAP	uc003upr.3,p.P1196S	retained_intron, protein_coding	uc003upr.3	nonsynonymous SNV	exon22	c.C3586T	p.P1196S	ESISECGRCPLSPFCQFEPAMEGVE	ESISECGRCPLSSFCQFEPAMEGVE	8.0	7.0	unscreened	-	3881_7:98543406-98543406 C>T_ESISECGRCPLSSFCQFEPAMEGVE
17:64637513-64637513 G>A	1.0	3881	MELANOMA	-	-	-	-	PRKCA	NM_002737,p.G110E|ENST00000578063,p.G110E|uc002jfp.1,p.G110E|ENST00000413366,p.G110E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jfp.1	nonsynonymous SNV	exon4	c.G329A	p.G110E	PRSKHKFKIHTYGSPTFCDHCGSLL	PRSKHKFKIHTYESPTFCDHCGSLL	7.0	4.0	unscreened	-	3881_17:64637513-64637513 G>A_PRSKHKFKIHTYESPTFCDHCGSLL
2:128477212-128477212 G>A	1.0	3881	MELANOMA	-	-	-	-	WDR33	NM_018383,p.P796L|ENST00000322313,p.P796L|uc002tpg.2,p.P796L	protein_coding	uc002tpg.2	nonsynonymous SNV	exon16	c.C2387T	p.P796L	MQGPPGPRENQGPAPQGMIMGHPPQ	MQGPPGPRENQGLAPQGMIMGHPPQ	7.0	2.0	unscreened	-	3881_2:128477212-128477212 G>A_MQGPPGPRENQGLAPQGMIMGHPPQ
21:32617907-32617907 G>A	1.0	3881	MELANOMA	-	-	-	-	TIAM1	ENST00000286827,p.A494V|ENST00000541036,p.A494V|uc002yow.1,p.A494V|NM_003253,p.A494V|uc011adk.1,p.A494V|uc011adl.1,p.A494V|uc002yox.1,p.A102V	retained_intron, protein_coding, processed_transcript	uc011adl.1	nonsynonymous SNV	exon4	c.C1481T	p.A494V	RSGIDHNSIPKHAVWVENSIVQAVP	RSGIDHNSIPKHVVWVENSIVQAVP	7.0	7.0	unscreened	-	3881_21:32617907-32617907 G>A_RSGIDHNSIPKHVVWVENSIVQAVP
11:62655834-62655834 C>T	1.0	3881	MELANOMA	-	-	ID=COSM138828;OCCURENCE=1(skin)	-	SLC3A2	ENST00000377890,p.S521F|uc001nwg.3,p.S420F|ENST00000377889,p.S459F|uc001nwd.3,p.S521F|ENST00000338663,p.S420F|NM_001013251,p.S420F|uc001nwf.3,p.S459F|ENST00000535296,p.S490F|ENST00000377892,p.S552F|uc001nwc.3,p.S522F|NM_001012664,p.S459F|ENST00000377891,p.S522F|NM_001012662,p.S522F|NM_002394,p.S521F|ENST00000536981,p.S66F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nwg.3	nonsynonymous SNV	exon9	c.C1259T	p.S420F	VKGQSEDPGSLLSLFRRLSDQRSKE	VKGQSEDPGSLLFLFRRLSDQRSKE	10.0	6.0	unscreened	-	3881_11:62655834-62655834 C>T_VKGQSEDPGSLLFLFRRLSDQRSKE
16:1507292-1507292 G>A	1.0	3881	MELANOMA	-	-	-	-	CLCN7	ENST00000448525,p.S238F|NM_001114331,p.S238F|uc002clv.3,p.S262F|ENST00000569851,p.S204F|ENST00000382745,p.S262F|uc002clw.3,p.S238F|NM_001287,p.S262F|ENST00000262318,p.S238F	retained_intron, protein_coding, processed_transcript	uc002clw.3	nonsynonymous SNV	exon8	c.C713T	p.S238F	MIHSGSVIAAGISQGRSTSLKRDFK	MIHSGSVIAAGIFQGRSTSLKRDFK	10.0	4.0	unscreened	-	3881_16:1507292-1507292 G>A_MIHSGSVIAAGIFQGRSTSLKRDFK
13:36220433-36220433 C>T	1.0	3881	MELANOMA	-	-	-	2	NBEA	NM_001204197,p.P345L|ENST00000400445,p.P2552L|ENST00000379922,p.P130L|uc010tef.2,p.P345L|uc010tee.1,p.P345L|ENST00000540320,p.P2552L|uc010abi.3,p.P1208L|ENST00000379939,p.P2549L|ENST00000310336,p.P2552L|NM_015678,p.P2552L|uc001uvd.3,p.P130L|ENST00000537702,p.P345L|uc021rid.1,p.P2552L	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon50	c.C7655T	p.P2552L	AMEAQIQNFGQTPSQLLIEPHPPRS	AMEAQIQNFGQTLSQLLIEPHPPRS	5.0	5.0	unscreened	-	3881_13:36220433-36220433 C>T_AMEAQIQNFGQTLSQLLIEPHPPRS
19:53454262-53454262 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF816	uc021uzc.1,p.E256K|ENST00000444460,p.E256K|uc002qam.2,p.E256K|NM_001202457,p.E256K|NM_001031665,p.E256K|ENST00000357666,p.E256K|uc002qal.2,p.E256K|NM_001202456,p.E256K	protein_coding	uc021uzc.1	nonsynonymous SNV	exon4	c.G766A	p.E256K	LRRHHITHSREREYKCDVCGKIFNQ	LRRHHITHSRERKYKCDVCGKIFNQ	8.0	8.0	unscreened	-	3881_19:53454262-53454262 C>T_LRRHHITHSRERKYKCDVCGKIFNQ
20:23065440-23065440 C>T	0.0	3881	MELANOMA	-	-	-	-	CD93	NM_012072,p.G464R|ENST00000246006,p.G464R|uc002wsv.3,p.G464R	protein_coding	uc002wsv.3	nonsynonymous SNV	exon1	c.G1390A	p.G464R	CGCLPGWVLAPNGVSCTMGPVSLGP	CGCLPGWVLAPNRVSCTMGPVSLGP	7.0	7.0	unscreened	-	3881_20:23065440-23065440 C>T_CGCLPGWVLAPNRVSCTMGPVSLGP
5:37182977-37182977 G>A	1.0	3881	MELANOMA	-	-	-	-	C5orf42	ENST00000509849,p.S774F|ENST00000274258,p.S650F|uc011cpb.1,p.S650F|uc011cpa.1,p.S1769F|ENST00000508244,p.S1769F|ENST00000514429,p.S817F|uc011coy.1,p.S270F|uc011coz.1,p.S844F|NM_023073,p.S1769F|ENST00000425232,p.S1769F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cpb.1	nonsynonymous SNV	exon12	c.C1949T	p.S650F	RLLCDSGITESSSEYSPVIRVKTST	RLLCDSGITESSFEYSPVIRVKTST	7.0	5.0	unscreened	-	3881_5:37182977-37182977 G>A_RLLCDSGITESSFEYSPVIRVKTST
2:160755316-160755316 C>T	0.0	3881	MELANOMA	-	-	-	-	LY75,LY75-CD302	uc010fos.3,p.G117R|ENST00000553424,p.G117R|uc010fot.2,p.G117R|ENST00000263636,p.G117R|ENST00000505052,p.G117R|NM_002349,p.G117R|ENST00000554112,p.G117R|NM_001198759,p.G117R|uc002ubb.4,p.G117R|NM_001198760,p.G117R|uc002ubc.4,p.G117R|ENST00000504764,p.G117R	retained_intron, protein_coding, processed_transcript	uc010fot.2	nonsynonymous SNV	exon2	c.G349A	p.G117R	MLWWKCEHHSLYGAARYRLALKDGH	MLWWKCEHHSLYRAARYRLALKDGH	5.0	4.0	unscreened	-	3881_2:160755316-160755316 C>T_MLWWKCEHHSLYRAARYRLALKDGH
13:20635259-20635259 G>A	1.0	3881	MELANOMA	-	-	-	-	ZMYM2	ENST00000382874,p.E936K|uc001umv.3,p.E316K|NM_197968,p.E936K|uc021rgy.1,p.E936K|NM_001190964,p.E936K|uc001umr.3,p.E936K|NM_003453,p.E936K|uc001umt.3,p.E936K|ENST00000382870,p.E316K|ENST00000382871,p.E936K|uc001umw.3,p.E389K|NM_001190965,p.E936K|uc001ums.3,p.E936K|ENST00000382869,p.E936K	protein_coding, processed_transcript	uc021rgy.1	nonsynonymous SNV	exon18	c.G2806A	p.E936K	LDSSEKIPAAIEELKSKVSSDALDT	LDSSEKIPAAIEKLKSKVSSDALDT	9.0	9.0	-	-	3881_13:20635259-20635259 G>A_LDSSEKIPAAIEKLKSKVSSDALDT
15:56208222-56208222 G>A	1.0	3881	MELANOMA	-	-	-	-	NEDD4	ENST00000338963,p.P270S|uc002adj.3,p.P270S|NM_198400,p.P270S|NM_001284339,p.P270S|ENST00000508342,p.P270S|uc010ugj.2,p.P270S|uc010bfm.3,p.P270S|NM_001284340,p.P270S|ENST00000506154,p.P270S|uc002adi.3,p.P270S|NM_001284338,p.P270S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ugj.2	nonsynonymous SNV	exon1	c.C808T	p.P270S	IPLKRYSSLVIFPRSPSTTRPTSPT	IPLKRYSSLVIFSRSPSTTRPTSPT	8.0	10.0	-	-	3881_15:56208222-56208222 G>A_IPLKRYSSLVIFSRSPSTTRPTSPT
2:241536276-241536276 C>T	0.0	3881	MELANOMA	-	-	-	-	CAPN10	uc002vzk.2,p.P554S|ENST00000391984,p.P554S|NM_023083,p.P554S|ENST00000404753,p.P554S|uc002vzn.2,p.P426S	retained_intron, protein_coding, nonsense_mediated_decay	uc002vzn.2	nonsynonymous SNV	exon9	c.C1276T	p.P426S	PCFPFSVPEGPGPRCVRITLHQHCR	PCFPFSVPEGPGSRCVRITLHQHCR	6.0	10.0	unscreened	-	3881_2:241536276-241536276 C>T_PCFPFSVPEGPGSRCVRITLHQHCR
5:89949308-89949308 G>A	0.0	3881	MELANOMA	-	-	-	-	GPR98	NM_032119,p.G1306E|uc003kju.3,p.G1306E|ENST00000405460,p.G1306E	retained_intron, protein_coding, processed_transcript	uc003kju.3	nonsynonymous SNV	exon20	c.G3917A	p.G1306E	AGLPPMIDFLLVGIFPTTVHLQQHM	AGLPPMIDFLLVEIFPTTVHLQQHM	4.0	9.0	unscreened	-	3881_5:89949308-89949308 G>A_AGLPPMIDFLLVEIFPTTVHLQQHM
3:113172663-113172663 G>A	1.0	3881	MELANOMA	-	-	-	-	SPICE1	uc003eah.1,p.R494C|uc003eag.4,p.R598C|NM_144718,p.R598C|ENST00000295872,p.R598C	retained_intron, protein_coding	uc003eah.1	nonsynonymous SNV	exon10	c.C1480T	p.R494C	IDTDIQNSSEENRLFTQRWRVSHMG	IDTDIQNSSEENCLFTQRWRVSHMG	9.0	3.0	unscreened	-	3881_3:113172663-113172663 G>A_IDTDIQNSSEENCLFTQRWRVSHMG
X:154221276-154221276 G>A	0.0	3881	MELANOMA	-	-	-	-	F8	ENST00000423959,p.S144F|uc011mzx.1,p.S144F|ENST00000360256,p.S179F|NM_000132,p.S179F|uc004fmt.3,p.S179F	protein_coding, processed_transcript	uc011mzx.1	nonsynonymous SNV	exon4	c.C431T	p.S144F	ASDPLCLTYSYLSHVDLVKDLNSGL	ASDPLCLTYSYLFHVDLVKDLNSGL	5.0	6.0	unscreened	-	3881_X:154221276-154221276 G>A_ASDPLCLTYSYLFHVDLVKDLNSGL
3:186272173-186272173 G>A	1.0	3881	MELANOMA	-	-	-	-	TBCCD1	uc011bry.2,p.P472S|uc003fqh.3,p.P376S|NM_001286749,p.P376S|NM_001134415,p.P472S|NM_018138,p.P472S|ENST00000338733,p.P472S|uc003fqg.3,p.P472S|ENST00000446782,p.P376S|ENST00000424280,p.P472S	protein_coding, processed_transcript	uc011bry.2	nonsynonymous SNV	exon6	c.C1414T	p.P472S	LLPPCEFYVFIIPFEMEGDTTEIPG	LLPPCEFYVFIISFEMEGDTTEIPG	7.0	9.0	-	-	3881_3:186272173-186272173 G>A_LLPPCEFYVFIISFEMEGDTTEIPG
3:25805745-25805745 G>A	1.0	3881	MELANOMA	-	-	ID=COSM184002,COSM3592120;OCCURENCE=2(large_intestine)	-	NGLY1	uc011awo.2,p.R60C|ENST00000417874,p.R60C|NM_001145293,p.R102C|ENST00000308710,p.R99C|NM_001145294,p.R60C|ENST00000428257,p.R102C|uc003cdm.3,p.R102C|uc003cdl.3,p.R102C|ENST00000422724,p.R25C|uc010hfg.3,p.R102C|ENST00000427041,p.R25C|NM_018297,p.R102C|ENST00000280700,p.R102C|ENST00000396649,p.R102C|NM_001145295,p.R102C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011awo.2	nonsynonymous SNV	exon3	c.C178T	p.R60C	PKKASVEQLQKIRDLIAIERSSRLD	PKKASVEQLQKICDLIAIERSSRLD	8.0	3.0	unscreened	-	3881_3:25805745-25805745 G>A_PKKASVEQLQKICDLIAIERSSRLD
5:150431802-150431802 G>A	1.0	3881	MELANOMA	-	-	-	-	TNIP1	ENST00000521591,p.R216W|NM_001252390,p.R216W|NM_001252385,p.R216W|NM_001258455,p.R216W|NM_001258454,p.R216W|uc003ltg.4,p.R163W|NM_006058,p.R216W|ENST00000524280,p.R216W|NM_001252391,p.R216W|ENST00000523200,p.R216W|ENST00000518977,p.R216W|uc031slv.1,p.R216W|ENST00000522226,p.R216W|ENST00000315050,p.R216W|uc010jhn.4,p.R216W|uc010jhm.4,p.R216W|uc010jhp.2,p.R163W|NM_001258456,p.R216W|ENST00000522100,p.R163W|uc010jhr.3,p.R216W|ENST00000523338,p.R216W|ENST00000519339,p.R163W|uc003lti.4,p.R216W|uc021ygb.1,p.R216W|NM_001252393,p.R216W|uc010jhq.2,p.R163W|uc011dco.3,p.R216W|NM_001252392,p.R216W|uc003ltk.3,p.R216W|uc003ltj.3,p.R216W|ENST00000520931,p.R163W|ENST00000389378,p.R216W|NM_001252386,p.R163W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031slv.1	nonsynonymous SNV	exon7	c.C646T	p.R216W	RTSILQTLCEQLRKENEALKAKLDK	RTSILQTLCEQLWKENEALKAKLDK	8.0	3.0	unscreened	-	3881_5:150431802-150431802 G>A_RTSILQTLCEQLWKENEALKAKLDK
20:30898452-30898452 C>T	1.0	3881	MELANOMA	-	-	-	-	KIF3B	uc010ztv.2,p.P291L|NM_004798,p.P291L|uc002wxq.3,p.P291L|ENST00000375712,p.P291L|uc010ztw.2,p.P291L	protein_coding	uc010ztw.2	nonsynonymous SNV	exon1	c.C872T	p.P291L	ISALVDGKSTHIPYRDSKLTRLLQD	ISALVDGKSTHILYRDSKLTRLLQD	8.0	9.0	-	-	3881_20:30898452-30898452 C>T_ISALVDGKSTHILYRDSKLTRLLQD
1:57002742-57002742 G>A	0.0	3881	MELANOMA	-	-	-	-	PPAP2B	NM_003713,p.P61L|ENST00000371250,p.P61L|uc001cyj.2,p.P61L	protein_coding, processed_transcript	uc001cyj.2	nonsynonymous SNV	exon2	c.C182T	p.P61L	LPFLIIETSTIKPYHRGFYCNDESI	LPFLIIETSTIKLYHRGFYCNDESI	6.0	6.0	unscreened	-	3881_1:57002742-57002742 G>A_LPFLIIETSTIKLYHRGFYCNDESI
20:10018998-10018998 C>T	1.0	3881	MELANOMA	-	-	-	-	ANKEF1	ENST00000378392,p.L17F|NM_198798,p.L17F|ENST00000378380,p.L17F|uc002wnp.3,p.L17F|NM_022096,p.L17F|uc002wno.3,p.L17F	protein_coding, processed_transcript	uc002wnp.3	nonsynonymous SNV	exon2	c.C49T	p.L17F	DKRLENLQIYKVLQCVRNKDKKQIE	DKRLENLQIYKVFQCVRNKDKKQIE	5.0	9.0	-	-	3881_20:10018998-10018998 C>T_DKRLENLQIYKVFQCVRNKDKKQIE
16:85111109-85111109 G>A	1.0	3881	MELANOMA	-	-	-	-	KIAA0513	NM_001286565,p.S218N|ENST00000566428,p.S218N|NM_001297766,p.S218N|NM_001286566,p.S218N|uc010voj.2,p.S218N|uc002fiu.3,p.S218N|ENST00000258180,p.S218N|ENST00000567328,p.S218N|uc002fit.3,p.S218N|ENST00000538274,p.S218N|NM_014732,p.S218N|ENST00000562580,p.S15N	retained_intron, protein_coding	uc010voj.2	nonsynonymous SNV	exon6	c.G653A	p.S218N	AGSIDSYLKSANSWLAEKKDIAERL	AGSIDSYLKSANNWLAEKKDIAERL	6.0	8.0	unscreened	-	3881_16:85111109-85111109 G>A_AGSIDSYLKSANNWLAEKKDIAERL
8:141445316-141445316 C>T	1.0	3881	MELANOMA	-	-	-	-	TRAPPC9	uc003yvi.1,p.A252T|uc003yvj.2,p.A252T|NM_031466,p.A350T|ENST00000438773,p.A252T|ENST00000389327,p.A252T|uc003yvh.2,p.A350T|ENST00000389328,p.A350T|NM_001160372,p.A252T	retained_intron, protein_coding, processed_transcript	uc003yvj.2	nonsynonymous SNV	exon4	c.G754A	p.A252T	LWLGAALEGLCSASVIYHYPGGTGG	LWLGAALEGLCSTSVIYHYPGGTGG	8.0	8.0	-	-	3881_8:141445316-141445316 C>T_LWLGAALEGLCSTSVIYHYPGGTGG
14:89628940-89628940 G>A	1.0	3881	MELANOMA	-	-	-	-	FOXN3	uc001xxn.4,p.P409S|uc001xxo.4,p.P431S|ENST00000557258,p.P409S|NM_005197,p.P409S|ENST00000345097,p.P431S|uc010atk.3,p.P409S|ENST00000555353,p.P409S|ENST00000261302,p.P431S|NM_001085471,p.P431S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010atk.3	nonsynonymous SNV	exon6	c.C1225T	p.P409S	KKRQHFAKARKVPSDTLPLKKRRTE	KKRQHFAKARKVSSDTLPLKKRRTE	9.0	4.0	unscreened	-	3881_14:89628940-89628940 G>A_KKRQHFAKARKVSSDTLPLKKRRTE
22:30218344-30218344 G>A	1.0	3881	MELANOMA	-	-	-	-	ASCC2	ENST00000412689,p.P174L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000412689	nonsynonymous SNV	exon4	c.C521T	p.P174L	LDLCVLFGKGNSPLLQKMIGESLEP	LDLCVLFGKGNSLLLQKMIGESLEP	10.0	5.0	unscreened	-	3881_22:30218344-30218344 G>A_LDLCVLFGKGNSLLLQKMIGESLEP
15:52015820-52015820 G>A	1.0	3881	MELANOMA	-	-	-	-	LYSMD2	uc002abi.3,p.S211F|ENST00000454181,p.S120F|uc002abj.3,p.S120F|ENST00000267838,p.S211F|ENST00000560491,p.S120F|ENST00000558126,p.S104F|NM_153374,p.S211F|NM_001143917,p.S120F	protein_coding	uc002abj.3	nonsynonymous SNV	exon3	c.C359T	p.S120F	EESRDEESPYATSLYHS	EESRDEESPYATFLYHS	5.0	10.0	-	-	3881_15:52015820-52015820 G>A_EESRDEESPYATFLYHS
6:35586891-35586891 C>T	0.0	3881	MELANOMA	-	-	-	-	FKBP5	ENST00000539068,p.E164K|NM_004117,p.E164K|NM_001145776,p.E164K|ENST00000357266,p.E164K|uc003oky.2,p.E164K|uc011dte.1,p.E164K|NM_001145777,p.E164K|uc003okx.2,p.E164K|ENST00000536438,p.E164K|NM_001145775,p.E164K|ENST00000542713,p.E164K|uc003okz.2,p.E164K	protein_coding	uc011dte.1	nonsynonymous SNV	exon5	c.G490A	p.E164K	TKRKGEGYSNPNEGATVEIHLEGRC	TKRKGEGYSNPNKGATVEIHLEGRC	8.0	1.0	unscreened	-	3881_6:35586891-35586891 C>T_TKRKGEGYSNPNKGATVEIHLEGRC
X:132548959-132548959 G>A	0.0	3881	MELANOMA	-	-	-	-	GPC4	NM_001448,p.T12I|uc004exc.1,p.T12I|ENST00000370828,p.T12I	protein_coding	uc004exc.1	nonsynonymous SNV	exon1	c.C35T	p.T12I	MARFGLPALLCTLAVLSAALLAAE	MARFGLPALLCILAVLSAALLAAE	6.0	6.0	unscreened	-	3881_X:132548959-132548959 G>A_MARFGLPALLCILAVLSAALLAAE
16:17235198-17235198 G>A	1.0	3881	MELANOMA	-	-	-	-	XYLT1	uc002dfa.3,p.L467F|NM_022166,p.L467F|ENST00000261381,p.L467F	retained_intron, protein_coding, processed_transcript	uc002dfa.3	nonsynonymous SNV	exon7	c.C1399T	p.L467F	NARFIRKQGLDRLFLECDAHMWRLG	NARFIRKQGLDRFFLECDAHMWRLG	8.0	8.0	-	-	3881_16:17235198-17235198 G>A_NARFIRKQGLDRFFLECDAHMWRLG
6:128561275-128561275 G>A	1.0	3881	MELANOMA	-	-	-	1	PTPRK	uc011ebv.1,p.R200C|ENST00000368215,p.R200C|NM_001135648,p.R200C|ENST00000368210,p.R200C|NM_001291984,p.R200C|NM_001291983,p.R71C|uc010kfc.3,p.R200C|uc003qbl.1,p.R70C|NM_001291981,p.R200C|ENST00000532331,p.R200C|NM_001291982,p.R200C|ENST00000368213,p.R200C|ENST00000368207,p.R200C|ENST00000368226,p.R200C|uc003qbk.3,p.R200C|uc003qbj.3,p.R200C|NM_002844,p.R200C|ENST00000368227,p.R200C|uc011ebu.2,p.R200C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ebv.1	nonsynonymous SNV	exon5	c.C598T	p.R200C	LSYPCDKSPHFLRLGDVEVNAGQNA	LSYPCDKSPHFLCLGDVEVNAGQNA	1.0	10.0	-	-	3881_6:128561275-128561275 G>A_LSYPCDKSPHFLCLGDVEVNAGQNA
22:30218344-30218344 G>A	1.0	3881	MELANOMA	-	-	-	-	ASCC2	ENST00000542393,p.P98L|uc003agr.3,p.P174L|NM_001242906,p.P98L|NM_032204,p.P174L|uc011akr.2,p.P98L|ENST00000397771,p.P174L|ENST00000307790,p.P174L|ENST00000431535,p.P174L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akr.2	nonsynonymous SNV	exon4	c.C293T	p.P98L	LDLCVLFGKGNSPLLQKMIGNIFTQ	LDLCVLFGKGNSLLLQKMIGNIFTQ	10.0	5.0	unscreened	-	3881_22:30218344-30218344 G>A_LDLCVLFGKGNSLLLQKMIGNIFTQ
2:135711467-135711467 C>T	1.0	3881	MELANOMA	-	-	ID=COSM134039;OCCURENCE=1(skin)	-	CCNT2	uc010zbf.2,p.P306L|ENST00000295238,p.P481L|uc002tuc.2,p.P481L|ENST00000264157,p.P481L|NM_058241,p.P481L|uc002tud.2,p.P144L|ENST00000537343,p.P306L|NM_001241,p.P481L|uc002tub.2,p.P481L	retained_intron, protein_coding, nonsense_mediated_decay	uc010zbf.2	nonsynonymous SNV	exon10	c.C917T	p.P306L	QSQAASSSSVTSPIKMKIPIANTEK	QSQAASSSSVTSLIKMKIPIANTEK	8.0	9.0	unscreened	-	3881_2:135711467-135711467 C>T_QSQAASSSSVTSLIKMKIPIANTEK
15:72338591-72338591 A>C	1.0	3881	MELANOMA	-	-	-	-	MYO9A	ENST00000424560,p.F105C|ENST00000564571,p.F105C|uc002atn.1,p.F105C|ENST00000569314,p.F105C|uc002ato.4,p.F105C|uc002atl.5,p.F105C|ENST00000444904,p.F105C|NM_006901,p.F105C|ENST00000356056,p.F105C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ato.4	nonsynonymous SNV	exon2	c.T314G	p.F105C	ALENRLSGEDYRFLLREKNLDGSIH	ALENRLSGEDYRCLLREKNLDGSIH	7.0	9.0	-	-	3881_15:72338591-72338591 A>C_ALENRLSGEDYRCLLREKNLDGSIH
X:50653980-50653980 C>T	0.0	3881	MELANOMA	-	-	-	-	BMP15	uc011mnw.2,p.S66L|ENST00000252677,p.S66L|NM_005448,p.S66L	protein_coding	uc011mnw.2	nonsynonymous SNV	exon1	c.C197T	p.S66L	GEQPRKPRLLGHSLRYMLELYRRSA	GEQPRKPRLLGHLLRYMLELYRRSA	1.0	10.0	unscreened	-	3881_X:50653980-50653980 C>T_GEQPRKPRLLGHLLRYMLELYRRSA
5:40692419-40692419 G>A	0.0	3881	MELANOMA	-	-	-	-	PTGER4	uc003jlz.3,p.G469E|ENST00000302472,p.G469E|NM_000958,p.G469E	protein_coding, processed_transcript	uc003jlz.3	nonsynonymous SNV	exon3	c.G1406A	p.G469E	AGGSGRAGPAPKGSSLQVTFPSETL	AGGSGRAGPAPKESSLQVTFPSETL	7.0	6.0	unscreened	-	3881_5:40692419-40692419 G>A_AGGSGRAGPAPKESSLQVTFPSETL
19:10288031-10288031 G>A	1.0	3881	MELANOMA	-	-	-	-	DNMT1	NM_001130823,p.P169L|uc002mnh.3,p.P48L|ENST00000359526,p.P169L|uc010xlc.2,p.P169L|ENST00000592342,p.P48L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xlc.2	nonsynonymous SNV	exon6	c.C506T	p.P169L	ASQVTGIRAEPSPSPRITRKSTRQT	ASQVTGIRAEPSLSPRITRKSTRQT	10.0	5.0	unscreened	-	3881_19:10288031-10288031 G>A_ASQVTGIRAEPSLSPRITRKSTRQT
11:65623197-65623197 G>A	1.0	3881	MELANOMA	-	-	-	-	CFL1	ENST00000531413,p.P89S|uc001ofs.3,p.P106S|NM_005507,p.P106S|ENST00000531407,p.P89S|uc001oft.3,p.P106S|ENST00000308162,p.P106S|ENST00000525451,p.P106S|ENST00000530413,p.P89S|ENST00000524553,p.P89S|ENST00000527344,p.P89S|ENST00000534769,p.P144S|ENST00000532134,p.P106S	retained_intron, protein_coding, processed_transcript	uc001oft.3	nonsynonymous SNV	exon4	c.C316T	p.P106S	SKKEDLVFIFWAPESAPLKSKMIYA	SKKEDLVFIFWASESAPLKSKMIYA	10.0	9.0	-	-	3881_11:65623197-65623197 G>A_SKKEDLVFIFWASESAPLKSKMIYA
14:67864447-67864447 G>A	0.0	3881	MELANOMA	-	-	-	-	PLEK2	uc001xjh.1,p.P47S|NM_016445,p.P47S|ENST00000555803,p.P31S|ENST00000553387,p.P47S|ENST00000216446,p.P47S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xjh.1	nonsynonymous SNV	exon2	c.C139T	p.P47S	YYKLEGGRRVTPPKGRILLDGCTIT	YYKLEGGRRVTPSKGRILLDGCTIT	5.0	9.0	unscreened	-	3881_14:67864447-67864447 G>A_YYKLEGGRRVTPSKGRILLDGCTIT
6:109850190-109850190 ->A	0.0	3881	MELANOMA	-	-	-	-	AK9	ENST00000355283,p.F298fs|uc011eat.1,p.F298fs	retained_intron, protein_coding	uc011eat.1	frameshift insertion	exon5	c.893dupT	p.F298fs	KKRREVSSFVFFFKTGSHSVAQGRV	KKRREVSSFVFFFQNRVSLCCPGQGTVAQS	6.0	1.0	unscreened	-	3881_6:109850190-109850190 ->A_KKRREVSSFVFFFQNRVSLCCPGQGTVAQS
14:50612304-50612304 G>A	1.0	3881	MELANOMA	-	-	-	-	SOS2	uc010tql.2,p.P766S|ENST00000543680,p.P766S|uc001wxs.4,p.P799S|NM_006939,p.P799S|ENST00000216373,p.P799S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tql.2	nonsynonymous SNV	exon14	c.C2296T	p.P766S	TLLESDLYRKVQPSELVGSVWTKED	TLLESDLYRKVQSSELVGSVWTKED	9.0	4.0	unscreened	-	3881_14:50612304-50612304 G>A_TLLESDLYRKVQSSELVGSVWTKED
X:108887398-108887398 C>T	0.0	3881	MELANOMA	-	-	-	-	ACSL4	NM_004458,p.E625K|NM_022977,p.E666K|ENST00000340800,p.E666K|ENST00000469796,p.E666K|uc004eok.2,p.E625K|ENST00000348502,p.E625K|uc004eoi.2,p.E666K|uc004eoj.2,p.E625K	protein_coding, processed_transcript, nonsense_mediated_decay	uc004eok.2	nonsynonymous SNV	exon16	c.G1873A	p.E625K	REAANAMKLERFEIPIKVRLSPEPW	REAANAMKLERFKIPIKVRLSPEPW	10.0	7.0	unscreened	-	3881_X:108887398-108887398 C>T_REAANAMKLERFKIPIKVRLSPEPW
17:41244886-41244886 G>A	1.0	3881	MELANOMA	-	-	-	1	BRCA1	ENST00000493795,p.H841Y|uc002icq.3,p.H888Y|uc010cza.2,p.H862Y|ENST00000357654,p.H888Y|uc010cyz.2,p.H841Y|uc010whs.1,p.H888Y|uc002idd.3,p.H888Y|NM_007300,p.H888Y|uc010cyx.3,p.H841Y|NM_007297,p.H841Y|uc010wht.1,p.H592Y|uc002ide.1,p.H719Y|uc002icp.4,p.H817Y|ENST00000471181,p.H888Y|ENST00000346315,p.H888Y|ENST00000309486,p.H592Y|uc010cyy.1,p.H888Y|uc002ict.3,p.H888Y|ENST00000354071,p.H888Y|NM_007294,p.H888Y	retained_intron, protein_coding, nonsense_mediated_decay, non_stop_decay	uc010wht.1	nonsynonymous SNV	exon2	c.C1774T	p.H592Y	GNAEEECATFSAHSGSLKKQSPKVT	GNAEEECATFSAYSGSLKKQSPKVT	9.0	4.0	unscreened	-	3881_17:41244886-41244886 G>A_GNAEEECATFSAYSGSLKKQSPKVT
5:88018701-88018701 G>A	1.0	3881	MELANOMA	-	-	-	-	MEF2C	ENST00000514028,p.S381F|ENST00000437473,p.S381F|ENST00000424173,p.S371F|uc003kjl.3,p.S391F|NM_001131005,p.S371F|ENST00000539796,p.S325F|ENST00000510942,p.S373F|uc003kjj.3,p.S381F|uc003kjm.3,p.S371F|uc003kjk.3,p.S381F|ENST00000340208,p.S391F|NM_002397,p.S381F|NM_001193350,p.S381F|ENST00000504921,p.S381F|NM_001193347,p.S391F|uc021ybh.1,p.S325F|NM_001193348,p.S325F|uc003kji.2,p.S373F	retained_intron, protein_coding, processed_transcript	uc021ybh.1	nonsynonymous SNV	exon8	c.C974T	p.S325F	CTSTHLSQSSNLSLPSTQSLNIKSE	CTSTHLSQSSNLFLPSTQSLNIKSE	10.0	2.0	unscreened	-	3881_5:88018701-88018701 G>A_CTSTHLSQSSNLFLPSTQSLNIKSE
10:126523347-126523347 C>T	1.0	3881	MELANOMA	-	-	-	-	FAM175B	uc001lib.4,p.P352L|ENST00000298492,p.P352L|NM_032182,p.P352L	protein_coding, processed_transcript	uc001lib.4	nonsynonymous SNV	exon9	c.C1055T	p.P352L	SNYASTSAGLKYPGSGADLPPPQRA	SNYASTSAGLKYLGSGADLPPPQRA	8.0	9.0	-	-	3881_10:126523347-126523347 C>T_SNYASTSAGLKYLGSGADLPPPQRA
3:4730200-4730200 G>A	1.0	3881	MELANOMA	-	-	-	-	ITPR1	NM_001099952,p.E1233K|ENST00000423119,p.E1233K|ENST00000357086,p.E1233K|NM_002222,p.E1218K|ENST00000443694,p.E1227K|NM_001168272,p.E1227K|uc021wsj.1,p.E1218K|ENST00000354582,p.E1242K|ENST00000302640,p.E1227K|uc003bqc.3,p.E1227K|ENST00000456211,p.E1218K|uc021wsi.1,p.E1233K	retained_intron, protein_coding, processed_transcript	uc021wsj.1	nonsynonymous SNV	exon30	c.G3652A	p.E1218K	IPYEKAEDTKMQEIMRLAHEFLQNF	IPYEKAEDTKMQKIMRLAHEFLQNF	7.0	2.0	unscreened	-	3881_3:4730200-4730200 G>A_IPYEKAEDTKMQKIMRLAHEFLQNF
17:42226204-42226204 C>T	1.0	3881	MELANOMA	-	-	-	-	C17orf53	uc002ifi.2,p.P345S|uc010czq.2,p.P345S|ENST00000585683,p.P345S|NM_001171251,p.P345S|ENST00000245382,p.P345S|NM_024032,p.P345S|ENST00000319977,p.P345S|uc002ifj.2,p.P345S	retained_intron, protein_coding	uc010czq.2	nonsynonymous SNV	exon3	c.C1033T	p.P345S	GLFPRIPLQPQAPVSSIGSPVGTPK	GLFPRIPLQPQASVSSIGSPVGTPK	5.0	6.0	unscreened	-	3881_17:42226204-42226204 C>T_GLFPRIPLQPQASVSSIGSPVGTPK
3:48696986-48696986 C>G	0.0	3881	MELANOMA	-	-	-	-	CELSR3	uc003cul.3,p.E1028Q|NM_001407,p.E1028Q|ENST00000164024,p.E1028Q|uc003cuf.1,p.E1098Q|ENST00000544264,p.E1028Q	retained_intron, protein_coding	uc003cul.3	nonsynonymous SNV	exon1	c.G3082C	p.E1028Q	SGIVRTVRRLDREAVSVYELTAYAV	SGIVRTVRRLDRQAVSVYELTAYAV	5.0	2.0	unscreened	-	3881_3:48696986-48696986 C>G_SGIVRTVRRLDRQAVSVYELTAYAV
11:61624528-61624528 G>A	1.0	3881	MELANOMA	-	-	-	-	FADS2	uc001nsj.2,p.E242K|uc001nsk.3,p.E264K|ENST00000278840,p.E264K|ENST00000521849,p.E264K|NM_004265,p.E264K|uc001nsl.1,p.E264K|ENST00000522056,p.E233K|NM_001281502,p.E233K|ENST00000257261,p.E242K|ENST00000521571,p.E30K|uc010rlo.1,p.E233K|ENST00000355484,p.E30K|NM_001281501,p.E242K	retained_intron, protein_coding	uc010rlo.1	nonsynonymous SNV	exon6	c.G697A	p.E233K	KKLKYLPYNHQHEYFFLIGPPLLIP	KKLKYLPYNHQHKYFFLIGPPLLIP	7.0	6.0	unscreened	-	3881_11:61624528-61624528 G>A_KKLKYLPYNHQHKYFFLIGPPLLIP
18:77171204-77171204 C>T	1.0	3881	MELANOMA	-	-	ID=COSM1217177;OCCURENCE=1(large_intestine)	-	NFATC1	NM_001278669,p.S310L|uc002lnc.1,p.S310L|ENST00000592223,p.S297L|ENST00000253506,p.S310L|NM_172390,p.S310L|uc002lng.3,p.S297L|NM_001278672,p.S297L|NM_001278670,p.S310L|NM_001278675,p.S297L|uc010xfi.1,p.S297L|uc002lnd.3,p.S310L|uc010xfk.2,p.S297L|ENST00000329101,p.S297L|uc010xfh.2,p.S310L|ENST00000318065,p.S297L|uc010xff.1,p.S310L|uc010xfg.2,p.S310L|NM_172389,p.S297L|NM_006162,p.S310L|uc002lnf.3,p.S297L|ENST00000587635,p.S310L|ENST00000591814,p.S310L|ENST00000586434,p.S297L|ENST00000427363,p.S310L|ENST00000542384,p.S310L|NM_172387,p.S297L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xfk.2	nonsynonymous SNV	exon2	c.C890T	p.S297L	DSWLGNTTQYTSSAIVAAINALTTD	DSWLGNTTQYTSLAIVAAINALTTD	8.0	5.0	unscreened	-	3881_18:77171204-77171204 C>T_DSWLGNTTQYTSLAIVAAINALTTD
2:167129176-167129176 T>A	1.0	3881	MELANOMA	-	-	-	-	SCN9A	ENST00000409672,p.E1017D|uc010fpl.3,p.E1017D|NM_002977,p.E1017D|ENST00000375387,p.E1029D|ENST00000409435,p.E1028D|ENST00000303354,p.E1029D	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon17	c.A3051T	p.E1017D	KKPKISREIRQAEDLNTKKENYISN	KKPKISREIRQADDLNTKKENYISN	6.0	4.0	unscreened	-	3881_2:167129176-167129176 T>A_KKPKISREIRQADDLNTKKENYISN
4:87770075-87770075 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC10A6	NM_197965,p.P65L|ENST00000273905,p.P65L|uc003hqd.2,p.P65L	protein_coding, nonsense_mediated_decay	uc003hqd.2	nonsynonymous SNV	exon1	c.C194T	p.P65L	VEIRKLWSHIRRPWGIAVGLLCQFG	VEIRKLWSHIRRLWGIAVGLLCQFG	3.0	10.0	unscreened	-	3881_4:87770075-87770075 G>A_VEIRKLWSHIRRLWGIAVGLLCQFG
5:45396740-45396740 C>T	1.0	3881	MELANOMA	-	-	-	-	HCN1	ENST00000303230,p.G362R|uc003jok.3,p.G362R|NM_021072,p.G362R	protein_coding	uc003jok.3	nonsynonymous SNV	exon4	c.G1084A	p.G362R	FKAMSHMLCIGYGAQAPVSMSDLWI	FKAMSHMLCIGYRAQAPVSMSDLWI	2.0	6.0	unscreened	-	3881_5:45396740-45396740 C>T_FKAMSHMLCIGYRAQAPVSMSDLWI
12:110765736-110765736 C>T	1.0	3881	MELANOMA	-	-	-	-	ATP2A2	ENST00000395494,p.P310S|ENST00000539276,p.P337S|uc001tqk.4,p.P337S|ENST00000308664,p.P337S|NM_170665,p.P337S|uc021rdt.1,p.P185S|NM_001681,p.P337S|uc001tql.4,p.P337S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rdt.1	nonsynonymous SNV	exon4	c.C553T	p.P185S	RMAKKNAIVRSLPSVETLGCTSVIC	RMAKKNAIVRSLSSVETLGCTSVIC	10.0	3.0	unscreened	-	3881_12:110765736-110765736 C>T_RMAKKNAIVRSLSSVETLGCTSVIC
3:180327489-180327489 C>T	1.0	3881	MELANOMA	-	-	-	-	TTC14	NM_133462,p.S491L|ENST00000296015,p.S491L|NM_001288582,p.S491L|uc003fkm.2,p.S491L|uc003fkk.3,p.S491L|ENST00000382584,p.S491L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fkm.2	nonsynonymous SNV	exon12	c.C1472T	p.S491L	SSVSSADESVSSSSSSSSSGHKRHK	SSVSSADESVSSLSSSSSSGHKRHK	9.0	10.0	-	-	3881_3:180327489-180327489 C>T_SSVSSADESVSSLSSSSSSGHKRHK
11:134131047-134131047 G>A	1.0	3881	MELANOMA	-	-	-	-	ACAD8	ENST00000537423,p.G195E|ENST00000543332,p.G174E|ENST00000374752,p.G145E|ENST00000281182,p.G272E|uc001qhl.3,p.G145E|uc010scq.2,p.G195E|uc001qhk.3,p.G272E|NM_014384,p.G272E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010scq.2	nonsynonymous SNV	exon6	c.G584A	p.G195E	GSEGQGFLIAVRGLNGGRINIASCS	GSEGQGFLIAVRELNGGRINIASCS	8.0	10.0	-	-	3881_11:134131047-134131047 G>A_GSEGQGFLIAVRELNGGRINIASCS
22:41609981-41609981 G>A	1.0	3881	MELANOMA	-	-	-	-	L3MBTL2	ENST00000450939,p.R108K|ENST00000216237,p.R116K|ENST00000452106,p.R116K|uc010gyi.1,p.R25K|NM_031488,p.R116K|uc003azo.3,p.R116K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010gyi.1	nonsynonymous SNV	exon3	c.G74A	p.R25K	SKTKRFCSVSCSRSYSSNSKKASIL	SKTKRFCSVSCSKSYSSNSKKASIL	7.0	8.0	unscreened	-	3881_22:41609981-41609981 G>A_SKTKRFCSVSCSKSYSSNSKKASIL
2:73747129-73747129 C>T	1.0	3881	MELANOMA	-	-	-	-	ALMS1	uc002sjg.3,p.S2643F|ENST00000264448,p.S3255F|uc010fev.1,p.S72F|uc002sjf.1,p.S3213F|uc002sjh.1,p.S2643F|ENST00000409009,p.S3213F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fev.1	nonsynonymous SNV	exon1	c.C215T	p.S72F	FASSSSVQQVTFSRGTDGQPLLLPY	FASSSSVQQVTFFRGTDGQPLLLPY	6.0	3.0	unscreened	-	3881_2:73747129-73747129 C>T_FASSSSVQQVTFFRGTDGQPLLLPY
19:50333771-50333771 C>T	1.0	3881	MELANOMA	-	-	-	-	MED25	NM_030973,p.P275S|ENST00000312865,p.P275S|uc002ppx.1,p.P56S|uc002ppw.2,p.P275S	retained_intron, protein_coding	uc002ppx.1	nonsynonymous SNV	exon3	c.C166T	p.P56S	QPLPPVPPQYQVPGNLSAAQVAAQN	QPLPPVPPQYQVSGNLSAAQVAAQN	9.0	4.0	unscreened	-	3881_19:50333771-50333771 C>T_QPLPPVPPQYQVSGNLSAAQVAAQN
16:71894017-71894017 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF821	uc002fbf.3,p.M339I|uc002fbg.4,p.M231I|NM_001201553,p.M381I|uc002fbe.3,p.M231I|uc002fbh.4,p.M339I|ENST00000565601,p.M381I|ENST00000446827,p.M339I|ENST00000425432,p.M381I|ENST00000313565,p.M339I|uc021tlb.1,p.M381I|NM_017530,p.M339I|NM_001201552,p.M381I|ENST00000568666,p.M381I|uc010vmj.2,p.M381I|NM_001201554,p.M339I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tlb.1	nonsynonymous SNV	exon8	c.G1143A	p.M381I	QDPSAMAALAAEMNFFQLPVSGVEL	QDPSAMAALAAEINFFQLPVSGVEL	5.0	7.0	unscreened	-	3881_16:71894017-71894017 C>T_QDPSAMAALAAEINFFQLPVSGVEL
10:111637813-111637813 G>A	1.0	3881	MELANOMA	-	-	-	-	XPNPEP1	uc010qrb.2,p.P396S|uc001kyq.2,p.P282S|uc009xxt.2,p.P396S|ENST00000502935,p.P396S|uc001kyp.2,p.P396S|NM_020383,p.P396S|uc010qra.1,p.P120S|ENST00000369680,p.P353S|ENST00000322238,p.P396S|ENST00000369683,p.P282S|NM_001167604,p.P396S	retained_intron, protein_coding, processed_transcript	uc010qrb.2	nonsynonymous SNV	exon13	c.C1186T	p.P396S	LCELFNWLEKEVPKGGVTEISAADK	LCELFNWLEKEVSKGGVTEISAADK	9.0	9.0	-	-	3881_10:111637813-111637813 G>A_LCELFNWLEKEVSKGGVTEISAADK
5:38482730-38482730 T>A	1.0	3881	MELANOMA	-	-	-	1	LIFR	ENST00000263409,p.E877D|ENST00000453190,p.E877D|uc003jli.2,p.E877D|uc010ive.1,p.E877D|NM_002310,p.E877D|NM_001127671,p.E877D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ive.1	nonsynonymous SNV	exon19	c.A2631T	p.E877D	IKETFYPDIPNPENCKALQFQKSVC	IKETFYPDIPNPDNCKALQFQKSVC	5.0	9.0	-	-	3881_5:38482730-38482730 T>A_IKETFYPDIPNPDNCKALQFQKSVC
6:46108137-46108137 C>T	1.0	3881	MELANOMA	-	-	-	-	ENPP4	ENST00000321037,p.P273S|NM_014936,p.P273S|uc003oxy.3,p.P273S	protein_coding	uc003oxy.3	nonsynonymous SNV	exon2	c.C817T	p.P273S	TLIDLSPVAAILPKINRTEVYNKLK	TLIDLSPVAAILSKINRTEVYNKLK	6.0	3.0	unscreened	-	3881_6:46108137-46108137 C>T_TLIDLSPVAAILSKINRTEVYNKLK
X:107979468-107979468 G>A	0.0	3881	MELANOMA	-	-	-	1	IRS4	NM_003604,p.S36F|ENST00000372129,p.S36F|uc004eoc.2,p.S36F	protein_coding	uc004eoc.2	nonsynonymous SNV	exon1	c.C107T	p.S36F	AALAAVVTTPLLSSGTPTALIGTGS	AALAAVVTTPLLFSGTPTALIGTGS	5.0	5.0	unscreened	-	3881_X:107979468-107979468 G>A_AALAAVVTTPLLFSGTPTALIGTGS
10:101715970-101715970 G>A	1.0	3881	MELANOMA	-	-	-	-	DNMBP	uc001kqj.2,p.H421Y|ENST00000342239,p.H421Y|ENST00000324109,p.H421Y|NM_015221,p.H421Y	protein_coding, processed_transcript	uc001kqj.2	nonsynonymous SNV	exon4	c.C1261T	p.H421Y	VNGISSQPQVPFHPNLQKSQYYSTV	VNGISSQPQVPFYPNLQKSQYYSTV	5.0	1.0	unscreened	-	3881_10:101715970-101715970 G>A_VNGISSQPQVPFYPNLQKSQYYSTV
1:248402361-248402361 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1690147;OCCURENCE=1(skin)	-	OR2M4	uc010pzh.2,p.S44F|NM_017504,p.S44F|ENST00000306687,p.S44F	protein_coding	uc010pzh.2	nonsynonymous SNV	exon1	c.C131T	p.S44F	LGIFSLALMENISMVLLIYIEKQLH	LGIFSLALMENIFMVLLIYIEKQLH	1.0	2.0	unscreened	-	3881_1:248402361-248402361 C>T_LGIFSLALMENIFMVLLIYIEKQLH
16:10989169-10989169 G>A	1.0	3881	MELANOMA	-	-	-	1	CIITA	uc002dag.2,p.G28E|uc002dai.4,p.G28E|uc010bup.1,p.G28E|uc002daj.4,p.G28E|NM_001286402,p.G28E|NM_001286403,p.G28E|ENST00000571186,p.G28E|uc002dah.2,p.G28E|NM_000246,p.G28E|ENST00000324288,p.G28E|ENST00000381835,p.G28E|uc002dak.4,p.G28E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bup.1	nonsynonymous SNV	exon2	c.G83A	p.G28E	PQGSSQCATMELGPLEGGYLELLNS	PQGSSQCATMELEPLEGGYLELLNS	9.0	3.0	unscreened	-	3881_16:10989169-10989169 G>A_PQGSSQCATMELEPLEGGYLELLNS
16:28845405-28845405 C>T	1.0	3881	MELANOMA	-	-	-	-	ATXN2L	uc002dqy.4,p.P682L|ENST00000325215,p.P682L|uc002dre.4,p.P682L|uc002drb.4,p.P682L|ENST00000340394,p.P682L|uc010vdb.3,p.P688L|ENST00000570200,p.P682L|uc002drc.4,p.P682L|NM_148415,p.P682L|ENST00000336783,p.P682L|ENST00000564304,p.P688L|ENST00000382686,p.P682L|NM_148416,p.P682L|ENST00000395547,p.P682L|uc002dqz.4,p.P682L|NM_145714,p.P682L|uc002dra.4,p.P682L|NM_007245,p.P682L|NM_017492,p.P682L|uc002drf.3,p.P91L|NM_148414,p.P682L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vdb.3	nonsynonymous SNV	exon16	c.C2063T	p.P688L	KPLLSVNKSTSTPTSPGPRTHSTPS	KPLLSVNKSTSTLTSPGPRTHSTPS	9.0	8.0	-	-	3881_16:28845405-28845405 C>T_KPLLSVNKSTSTLTSPGPRTHSTPS
17:37295989-37295989 G>A	0.0	3881	MELANOMA	-	-	-	-	PLXDC1	uc002hrg.2,p.P58L|ENST00000315392,p.P58L|NM_020405,p.P58L|ENST00000578390,p.P58L|ENST00000394316,p.P58L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hrg.2	nonsynonymous SNV	exon2	c.C173T	p.P58L	RRARESPGHVSEPDRTQLSQDLGGG	RRARESPGHVSELDRTQLSQDLGGG	7.0	5.0	unscreened	-	3881_17:37295989-37295989 G>A_RRARESPGHVSELDRTQLSQDLGGG
7:6730901-6730901 A>T	1.0	3881	MELANOMA	-	-	-	-	ZNF12	uc003sqt.1,p.F558I|ENST00000405858,p.F558I|uc011jxa.1,p.F396I|uc003sqs.1,p.F520I|NM_016265,p.F558I|NM_006956,p.F520I|ENST00000404360,p.F484I|ENST00000342651,p.F520I	protein_coding, processed_transcript	uc011jxa.1	nonsynonymous SNV	exon5	c.T1186A	p.F396I	EKPYECYICGKFFSQMSYLTIHHRI	EKPYECYICGKFISQMSYLTIHHRI	8.0	5.0	unscreened	-	3881_7:6730901-6730901 A>T_EKPYECYICGKFISQMSYLTIHHRI
16:67694198-67694198 G>A	0.0	3881	MELANOMA	-	-	ID=COSM135719;OCCURENCE=1(skin)	-	ACD	uc002etp.4,p.L62F|NM_001082487,p.L62F|uc002etr.4,p.L62F|ENST00000219251,p.L62F|uc010vjt.1,p.L52F|NM_022914,p.L62F|NM_001082486,p.L62F|ENST00000393919,p.L62F|uc002etq.4,p.L62F	protein_coding	uc010vjt.1	nonsynonymous SNV	exon1	c.C154T	p.L52F	LLLRPRPAKELPLPRKGGAWAPAGN	LLLRPRPAKELPFPRKGGAWAPAGN	6.0	6.0	unscreened	-	3881_16:67694198-67694198 G>A_LLLRPRPAKELPFPRKGGAWAPAGN
19:36727706-36727706 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF146	ENST00000456324,p.H122Y|NM_001099638,p.H122Y|uc010eeu.3,p.H122Y|uc021ute.1,p.H122Y|ENST00000443387,p.H122Y|NM_007145,p.H122Y|uc002odq.4,p.H122Y|NM_001099639,p.H122Y|uc010eet.3,p.H122Y	retained_intron, protein_coding, processed_transcript	uc021ute.1	nonsynonymous SNV	exon1	c.C364T	p.H122Y	IQKSNLIRHQRTHTGEKPFVCKECG	IQKSNLIRHQRTYTGEKPFVCKECG	10.0	8.0	unscreened	-	3881_19:36727706-36727706 C>T_IQKSNLIRHQRTYTGEKPFVCKECG
X:64751288-64751288 G>A	0.0	3881	MELANOMA	-	-	-	-	LAS1L	uc004dwc.2,p.R155C|ENST00000312391,p.R155C|NM_001170649,p.R155C|ENST00000484069,p.R155C|ENST00000374804,p.R113C|uc004dwd.2,p.R113C|NM_001170650,p.R113C|ENST00000374807,p.R155C|ENST00000374811,p.R155C|NM_031206,p.R155C|uc004dwa.2,p.R155C	protein_coding, processed_transcript	uc004dwd.2	nonsynonymous SNV	exon3	c.C337T	p.R113C	QEVNIPDWIVDLRHELTHKKMPHIN	QEVNIPDWIVDLCHELTHKKMPHIN	9.0	4.0	unscreened	-	3881_X:64751288-64751288 G>A_QEVNIPDWIVDLCHELTHKKMPHIN
1:234565400-234565400 G>A	1.0	3881	MELANOMA	-	-	-	-	TARBP1	NM_005646,p.S878F|uc001hwd.3,p.S878F|ENST00000040877,p.S878F	protein_coding, processed_transcript	uc001hwd.3	nonsynonymous SNV	exon16	c.C2633T	p.S878F	LECSSVLEESSSSQGWGKIVAQYIH	LECSSVLEESSSFQGWGKIVAQYIH	8.0	9.0	-	-	3881_1:234565400-234565400 G>A_LECSSVLEESSSFQGWGKIVAQYIH
12:49425769-49425769 G>A	1.0	3881	MELANOMA	-	-	-	1	KMT2D	NM_003482,p.T4240I|ENST00000301067,p.T4240I|uc001rta.4,p.T4240I	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon39	c.C12719T	p.T4240I	QRQLQQSQAVRQTPPYQEPGTQTSP	QRQLQQSQAVRQIPPYQEPGTQTSP	9.0	5.0	unscreened	-	3881_12:49425769-49425769 G>A_QRQLQQSQAVRQIPPYQEPGTQTSP
8:2820864-2820864 C>T	1.0	3881	MELANOMA	-	-	-	-	CSMD1	ENST00000537824,p.D3112N|uc010lrg.3,p.D1004N|uc011kwj.2,p.D2442N|NM_033225,p.D3112N|uc022aqr.1,p.D3112N|ENST00000520002,p.D3113N|ENST00000602557,p.D3113N|ENST00000400186,p.D2936N|ENST00000602723,p.D2936N|ENST00000542608,p.D2935N	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon60	c.G9334A	p.D3112N	PPPVQNGTVEGSDFRWGSSISYSCM	PPPVQNGTVEGSNFRWGSSISYSCM	7.0	5.0	unscreened	-	3881_8:2820864-2820864 C>T_PPPVQNGTVEGSNFRWGSSISYSCM
2:135309657-135309657 A>T	0.0	3881	MELANOMA	-	-	-	-	TMEM163	uc002ttx.3,p.S110T|NM_030923,p.S110T|ENST00000281924,p.S110T	retained_intron, protein_coding	uc002ttx.3	nonsynonymous SNV	exon3	c.T328A	p.S110T	VTLALAVAAFTVSVMRYSASAFGFA	VTLALAVAAFTVTVMRYSASAFGFA	2.0	4.0	unscreened	-	3881_2:135309657-135309657 A>T_VTLALAVAAFTVTVMRYSASAFGFA
19:45998084-45998084 G>A	0.0	3881	MELANOMA	-	-	-	-	RTN2	ENST00000344680,p.R87C|ENST00000587597,p.R87C|ENST00000245923,p.R87C|uc002pcc.4,p.R87C|uc002pcb.4,p.R87C|ENST00000591286,p.R87C|NM_005619,p.R87C|NM_206900,p.R87C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002pcc.4	nonsynonymous SNV	exon3	c.C259T	p.R87C	SGGRRDSTARRPRPQGRSVSEPRDQ	SGGRRDSTARRPCPQGRSVSEPRDQ	10.0	1.0	unscreened	-	3881_19:45998084-45998084 G>A_SGGRRDSTARRPCPQGRSVSEPRDQ
19:58966619-58966619 C>T	0.0	3881	MELANOMA	-	-	-	-	ZNF324B	NM_207395,p.P103L|ENST00000599193,p.P103L|ENST00000599194,p.P103L|ENST00000545523,p.P103L|uc002qsu.1,p.P93L|ENST00000391696,p.P93L|ENST00000336614,p.P103L|uc002qsv.1,p.P103L|uc010euq.1,p.P103L	protein_coding	uc010euq.1	nonsynonymous SNV	exon5	c.C308T	p.P103L	SGEWPRAFPDTPPGMTTSVFPVADA	SGEWPRAFPDTPLGMTTSVFPVADA	5.0	8.0	unscreened	-	3881_19:58966619-58966619 C>T_SGEWPRAFPDTPLGMTTSVFPVADA
6:31503224-31503224 G>A	1.0	3881	MELANOMA	-	-	-	-	DDX39B	uc011dnp.1,p.P141S|uc003ntu.3,p.P219S|NM_080598,p.P219S|ENST00000427214,p.P219S|ENST00000456662,p.P219S|ENST00000419338,p.P219S|ENST00000458640,p.P219S|uc003ntx.2,p.P219S|ENST00000396172,p.P219S|ENST00000453105,p.P172S|ENST00000417556,p.P234S|uc003ntt.3,p.P219S|ENST00000431908,p.P141S|uc011dnn.2,p.P141S|uc003ntw.2,p.P219S|NM_004640,p.P219S|ENST00000428098,p.P219S|uc011dno.1,p.P172S|ENST00000376177,p.P219S|uc003ntv.3,p.P219S|ENST00000415382,p.P141S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dnp.1	nonsynonymous SNV	exon4	c.C421T	p.P141S	MRRDVQEIFRMTPHEKQVMMFSATL	MRRDVQEIFRMTSHEKQVMMFSATL	10.0	5.0	unscreened	-	3881_6:31503224-31503224 G>A_MRRDVQEIFRMTSHEKQVMMFSATL
7:129668798-129668798 G>A	0.0	3881	MELANOMA	-	-	-	-	ZC3HC1	NM_016478,p.L189F|ENST00000311873,p.L168F|ENST00000481503,p.L189F|ENST00000358303,p.L189F|ENST00000360708,p.L189F|uc010lma.3,p.L76F|NM_001282190,p.L168F|uc003vpi.3,p.L189F|NM_001282191,p.L189F	retained_intron, protein_coding, nonsense_mediated_decay	uc010lma.3	nonsynonymous SNV	exon3	c.C226T	p.L76F	ILVSEFLDRFQSLCHLDLQLPSLRP	ILVSEFLDRFQSFCHLDLQLPSLRP	7.0	3.0	unscreened	-	3881_7:129668798-129668798 G>A_ILVSEFLDRFQSFCHLDLQLPSLRP
5:92923745-92923745 G>A	1.0	3881	MELANOMA	-	-	-	-	NR2F1	uc021ybj.1,p.E145K|uc021ybk.1,p.E171K|uc003kkj.3,p.E196K|NM_005654,p.E196K|ENST00000327111,p.E196K	protein_coding, processed_transcript	uc021ybk.1	nonsynonymous SNV	exon3	c.G511A	p.E171K	YLSGYISLLLRAEPYPTSRYGSQCM	YLSGYISLLLRAKPYPTSRYGSQCM	7.0	5.0	unscreened	-	3881_5:92923745-92923745 G>A_YLSGYISLLLRAKPYPTSRYGSQCM
18:47811703-47811703 G>A	1.0	3881	MELANOMA	-	-	-	-	CXXC1	uc010doy.3,p.P220S|NM_001101654,p.P220S|ENST00000591474,p.P68S|ENST00000285106,p.P220S|ENST00000589940,p.P220S|uc002ler.4,p.P220S|ENST00000412036,p.P220S|uc002lep.4,p.P77S|uc002leq.4,p.P220S|NM_014593,p.P220S	retained_intron, protein_coding, processed_transcript	uc010doy.3	nonsynonymous SNV	exon6	c.C658T	p.P220S	CQLRARESYKYFPSSLSPVTPSESL	CQLRARESYKYFSSSLSPVTPSESL	9.0	2.0	unscreened	-	3881_18:47811703-47811703 G>A_CQLRARESYKYFSSSLSPVTPSESL
1:2450665-2450665 G>A	1.0	3881	MELANOMA	-	-	-	-	PANK4	uc001ajm.1,p.R318C|ENST00000468002,p.R24C|ENST00000378466,p.R318C|uc010nza.1,p.R279C|ENST00000435556,p.R279C|NM_018216,p.R318C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nza.1	nonsynonymous SNV	exon7	c.C835T	p.R279C	LACLHARLHSLDRVYFGGFFIRGHP	LACLHARLHSLDCVYFGGFFIRGHP	8.0	4.0	unscreened	-	3881_1:2450665-2450665 G>A_LACLHARLHSLDCVYFGGFFIRGHP
5:147774373-147774373 A>G	1.0	3881	MELANOMA	-	-	ID=COSM1619810;OCCURENCE=2(liver)	-	FBXO38	uc003lph.3,p.I12V|NM_030793,p.I12V|uc031slt.1,p.I12V|ENST00000296701,p.I12V|uc003lpg.2,p.I12V|ENST00000394370,p.I12V|ENST00000513826,p.I12V|NM_001271723,p.I12V|ENST00000340253,p.I12V	retained_intron, protein_coding, processed_transcript	uc031slt.1	nonsynonymous SNV	exon1	c.A34G	p.I12V	MGPRKKSVKTCIMNNEIPEEMTAD	MGPRKKSVKTCVMNNEIPEEMTAD	10.0	6.0	unscreened	-	3881_5:147774373-147774373 A>G_MGPRKKSVKTCVMNNEIPEEMTAD
1:222716972-222716972 G>A	1.0	3881	MELANOMA	-	-	-	-	HHIPL2	uc001hnh.1,p.S294L|NM_024746,p.S294L|ENST00000343410,p.S294L	protein_coding, processed_transcript	uc001hnh.1	nonsynonymous SNV	exon2	c.C881T	p.S294L	KFRHNRKFYIYYSCLDKKKVEKIRI	KFRHNRKFYIYYLCLDKKKVEKIRI	2.0	9.0	unscreened	-	3881_1:222716972-222716972 G>A_KFRHNRKFYIYYLCLDKKKVEKIRI
3:37550072-37550072 G>A	1.0	3881	MELANOMA	-	-	-	-	ITGA9	uc003chc.3,p.R284Q|ENST00000264741,p.R284Q|ENST00000422441,p.R284Q|uc003chd.3,p.R284Q|NM_002207,p.R284Q	retained_intron, protein_coding	uc003chd.3	nonsynonymous SNV	exon8	c.G851A	p.R284Q	KGIGKVYIFRADRRSGTLIKIFQAS	KGIGKVYIFRADQRSGTLIKIFQAS	7.0	8.0	-	-	3881_3:37550072-37550072 G>A_KGIGKVYIFRADQRSGTLIKIFQAS
5:172517682-172517682 C>T	1.0	3881	MELANOMA	-	-	-	-	CREBRF	uc011dfd.1,p.P167L|NM_153607,p.P167L|ENST00000520420,p.P167L|NM_001168394,p.P167L|NM_001168393,p.P167L|uc003mcf.3,p.P167L|ENST00000522692,p.P167L|uc003mcg.3,p.P167L|ENST00000540014,p.P167L|ENST00000296953,p.P167L|uc003mch.3,p.P167L	retained_intron, protein_coding, processed_transcript	uc011dfd.1	nonsynonymous SNV	exon4	c.C500T	p.P167L	YYPDSLFSVKQNPLPSSFPGKKITS	YYPDSLFSVKQNLLPSSFPGKKITS	8.0	3.0	unscreened	-	3881_5:172517682-172517682 C>T_YYPDSLFSVKQNLLPSSFPGKKITS
17:71281862-71281862 G>A	1.0	3881	MELANOMA	-	-	-	-	CDC42EP4	uc002jjo.3,p.P260S|NM_012121,p.P260S|uc021ucn.1,p.P260S|ENST00000439510,p.P190S|uc002jjn.3,p.P260S|ENST00000335793,p.P260S|uc002jjp.1,p.P190S	protein_coding, processed_transcript	uc021ucn.1	nonsynonymous SNV	exon1	c.C778T	p.P260S	TITQAPPYAVAAPPLARQEGKAGPD	TITQAPPYAVAASPLARQEGKAGPD	5.0	9.0	-	-	3881_17:71281862-71281862 G>A_TITQAPPYAVAASPLARQEGKAGPD
12:7982594-7982594 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC2A14	uc010sgg.2,p.S8L|ENST00000535295,p.S8L|NM_001286236,p.S8L|ENST00000542546,p.S8L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgg.2	nonsynonymous SNV	exon4	c.C23T	p.S8L	MLLRRRNSMLIVNLLAATGG	MLLRRRNLMLIVNLLAATGG	5.0	8.0	unscreened	-	3881_12:7982594-7982594 G>A_MLLRRRNLMLIVNLLAATGG
6:30075908-30075908 G>A	0.0	3881	MELANOMA	-	-	-	-	TRIM31	ENST00000540829,p.P269S|NM_007028,p.P269S|uc003npg.1,p.P269S|ENST00000376734,p.P269S	retained_intron, protein_coding, processed_transcript	uc003npg.1	nonsynonymous SNV	exon6	c.C805T	p.P269S	SEEFQFLNPTPVPLELEKKLSEAKS	SEEFQFLNPTPVSLELEKKLSEAKS	1.0	1.0	unscreened	-	3881_6:30075908-30075908 G>A_SEEFQFLNPTPVSLELEKKLSEAKS
20:40141504-40141504 G>A	1.0	3881	MELANOMA	-	-	-	-	CHD6	uc002xkd.2,p.T256I|uc002xka.1,p.T278I|NM_032221,p.T278I|uc002xkc.3,p.T313I|ENST00000373233,p.T278I|ENST00000373222,p.T313I|ENST00000309279,p.T278I	protein_coding, processed_transcript	uc002xkd.2	nonsynonymous SNV	exon4	c.C767T	p.T256I	LGAGRTSALSASTLAWQAEEPPEDD	LGAGRTSALSASILAWQAEEPPEDD	9.0	8.0	-	-	3881_20:40141504-40141504 G>A_LGAGRTSALSASILAWQAEEPPEDD
14:21488692-21488692 G>A	1.0	3881	MELANOMA	-	-	-	-	NDRG2	uc001vze.3,p.P173L|NM_001282211,p.P169L|ENST00000556974,p.P159L|NM_201538,p.P159L|ENST00000555384,p.P173L|ENST00000556008,p.P159L|ENST00000397851,p.P173L|ENST00000403829,p.P169L|uc010aig.3,p.P173L|NM_001282215,p.P173L|NM_201541,p.P159L|NM_001282213,p.P159L|uc001vza.3,p.P159L|ENST00000553867,p.P173L|NM_201539,p.P173L|ENST00000555026,p.P159L|NM_201537,p.P173L|NM_016250,p.P159L|NM_201535,p.P173L|ENST00000397847,p.P173L|ENST00000397844,p.P159L|ENST00000298687,p.P173L|ENST00000556366,p.P86L|uc001vyt.3,p.P86L|uc001vyx.3,p.P173L|uc001vzf.3,p.P159L|NM_001282214,p.P159L|uc001vzc.3,p.P159L|uc001vyy.3,p.P173L|ENST00000397858,p.P173L|ENST00000555733,p.P173L|uc001vzd.3,p.P173L|NM_201540,p.P173L|uc001vyw.3,p.P159L|ENST00000557169,p.P159L|ENST00000360463,p.P159L|ENST00000553503,p.P159L|ENST00000557182,p.P118L|uc001vyv.3,p.P159L|uc001vyz.3,p.P159L|NM_001282216,p.P113L|ENST00000556147,p.P173L|uc010tll.2,p.P169L|NM_001282212,p.P159L|ENST00000554143,p.P159L|ENST00000397856,p.P159L|ENST00000397853,p.P173L|ENST00000555869,p.P159L|uc001vzg.3,p.P159L|ENST00000554104,p.P86L|ENST00000350792,p.P159L|ENST00000557633,p.P116L|ENST00000554094,p.P159L|ENST00000555158,p.P159L|uc001vzb.3,p.P113L|NM_201536,p.P159L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tll.2	nonsynonymous SNV	exon7	c.C506T	p.P169L	DTVEGLVLINIDPNAKGWMDWAAHK	DTVEGLVLINIDLNAKGWMDWAAHK	8.0	4.0	unscreened	-	3881_14:21488692-21488692 G>A_DTVEGLVLINIDLNAKGWMDWAAHK
6:128134253-128134253 C>T	0.0	3881	MELANOMA	-	-	-	-	THEMIS	uc010kfb.3,p.M476I|NM_001164685,p.M511I|ENST00000368250,p.M432I|uc010kfa.3,p.M414I|uc011ebt.2,p.M511I|NM_001164687,p.M476I|ENST00000537166,p.M476I|uc021zfa.1,p.M511I|NM_001010923,p.M511I|ENST00000543064,p.M511I|ENST00000368248,p.M511I	protein_coding	uc021zfa.1	nonsynonymous SNV	exon4	c.G1533A	p.M511I	TECWEIPVGRLNMTVQLVSNFSRDA	TECWEIPVGRLNITVQLVSNFSRDA	1.0	10.0	unscreened	-	3881_6:128134253-128134253 C>T_TECWEIPVGRLNITVQLVSNFSRDA
2:74492297-74492297 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC4A5	ENST00000359484,p.R102C|uc002skn.3,p.R166C|ENST00000423644,p.R166C|uc002skp.1,p.R102C|NM_133478,p.R166C|ENST00000377634,p.R166C|NM_021196,p.R166C|ENST00000394019,p.R166C|ENST00000425249,p.R166C|uc010ffc.1,p.R166C|uc002sko.1,p.R166C|ENST00000377632,p.R166C|uc002sks.1,p.R166C|ENST00000357822,p.R166C|ENST00000346834,p.R166C|ENST00000432728,p.R50C|ENST00000358683,p.R102C	retained_intron, protein_coding, processed_transcript	uc010ffc.1	nonsynonymous SNV	exon4	c.C496T	p.R166C	VSTLSLHSLFELRTCLQTGTVLLDL	VSTLSLHSLFELCTCLQTGTVLLDL	5.0	4.0	unscreened	-	3881_2:74492297-74492297 G>A_VSTLSLHSLFELCTCLQTGTVLLDL
19:6682192-6682192 C>T	0.0	3881	MELANOMA	-	-	-	-	C3	ENST00000596548,p.M114I|uc002mfm.3,p.M1407I|NM_000064,p.M1407I|ENST00000245907,p.M1407I	retained_intron, protein_coding, processed_transcript	uc002mfm.3	nonsynonymous SNV	exon34	c.G4221A	p.M1407I	DQDATMSILDISMMTGFAPDTDDLK	DQDATMSILDISIMTGFAPDTDDLK	10.0	4.0	unscreened	-	3881_19:6682192-6682192 C>T_DQDATMSILDISIMTGFAPDTDDLK
X:73812162-73812162 G>A	0.0	3881	MELANOMA	-	-	-	-	RLIM	uc004ebu.3,p.P330S|NM_016120,p.P330S|NM_183353,p.P330S|uc004ebw.3,p.P330S|ENST00000349225,p.P330S|ENST00000332687,p.P330S	protein_coding	uc004ebw.3	nonsynonymous SNV	exon4	c.C988T	p.P330S	TIVLDLQVRRVRPGEYRQRDSIASR	TIVLDLQVRRVRSGEYRQRDSIASR	9.0	2.0	unscreened	-	3881_X:73812162-73812162 G>A_TIVLDLQVRRVRSGEYRQRDSIASR
11:18956094-18956094 G>A	0.0	3881	MELANOMA	-	-	-	-	MRGPRX1	uc001mpg.3,p.L80F|ENST00000302797,p.L80F|NM_147199,p.L80F	protein_coding, processed_transcript	uc001mpg.3	nonsynonymous SNV	exon1	c.C238T	p.L80F	LAAADFLFLSGRLIYSLLSFISIPH	LAAADFLFLSGRFIYSLLSFISIPH	1.0	1.0	unscreened	-	3881_11:18956094-18956094 G>A_LAAADFLFLSGRFIYSLLSFISIPH
1:248402673-248402673 C>T	0.0	3881	MELANOMA	-	-	-	-	OR2M4	ENST00000306687,p.S148F|uc010pzh.2,p.S148F|NM_017504,p.S148F	protein_coding	uc010pzh.2	nonsynonymous SNV	exon1	c.C443T	p.S148F	MNPKLCVFMTVASWTLGSLDGIIVL	MNPKLCVFMTVAFWTLGSLDGIIVL	1.0	1.0	unscreened	-	3881_1:248402673-248402673 C>T_MNPKLCVFMTVAFWTLGSLDGIIVL
19:37643575-37643575 G>A	1.0	3881	MELANOMA	-	-	ID=COSM225922;OCCURENCE=1(endometrium),2(skin)	-	ZNF585A	NM_152655,p.S354L|ENST00000356958,p.S409L|ENST00000392157,p.S354L|NM_199126,p.S354L|uc002ofo.1,p.S409L|NM_001288800,p.S409L|uc002ofm.1,p.S354L|uc002ofn.1,p.S354L|ENST00000292841,p.S354L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ofo.1	nonsynonymous SNV	exon5	c.C1226T	p.S409L	LTVHQRIHTGEKSYICMKCGLAFIQ	LTVHQRIHTGEKLYICMKCGLAFIQ	7.0	7.0	unscreened	-	3881_19:37643575-37643575 G>A_LTVHQRIHTGEKLYICMKCGLAFIQ
14:76090997-76090997 C>T	0.0	3881	MELANOMA	-	-	-	-	FLVCR2	NM_017791,p.S285F|uc001xrs.2,p.S285F|uc010tvd.1,p.S80F|ENST00000555058,p.S33F|ENST00000238667,p.S285F|ENST00000556856,p.S33F|ENST00000553587,p.S33F|ENST00000539311,p.S80F|NM_001195283,p.S80F	retained_intron, protein_coding, processed_transcript	uc010tvd.1	nonsynonymous SNV	exon3	c.C239T	p.S80F	KEKPKYPPSRAQSLSYALTSPDASY	KEKPKYPPSRAQFLSYALTSPDASY	5.0	7.0	unscreened	-	3881_14:76090997-76090997 C>T_KEKPKYPPSRAQFLSYALTSPDASY
13:23909874-23909874 G>A	1.0	3881	MELANOMA	-	-	ID=COSM1365903,COSM1365904;OCCURENCE=1(large_intestine),1(pancreas)	-	SACS	NM_001278055,p.S2567L|uc001uon.3,p.S2714L|NM_014363,p.S2714L|ENST00000402364,p.S1964L|ENST00000382298,p.S2714L|uc001uoo.3,p.S2567L|ENST00000382292,p.S2714L	protein_coding, processed_transcript	uc001uoo.3	nonsynonymous SNV	exon8	c.C7700T	p.S2567L	LRNAEMAKVSEISSVPASDRMVQNL	LRNAEMAKVSEILSVPASDRMVQNL	7.0	8.0	unscreened	-	3881_13:23909874-23909874 G>A_LRNAEMAKVSEILSVPASDRMVQNL
X:1407478-1407478 G>A	0.0	3881	MELANOMA	-	-	-	-	CSF2RA	NM_001161530,p.V96I|uc004cpq.2,p.V96I|ENST00000381524,p.V96I|NM_001161531,p.V96I|NM_172247,p.V96I|ENST00000419094,p.V96I|NM_172246,p.V96I|ENST00000486791,p.V96I|NM_006140,p.V96I|ENST00000432318,p.V96I|uc004cpr.2,p.V96I|ENST00000361536,p.V96I|uc004cpn.2,p.V96I|ENST00000381500,p.V96I|NM_172245,p.V96I|ENST00000412290,p.V96I|ENST00000355432,p.V96I|uc004cpp.2,p.V96I|uc004cpo.2,p.V96I|ENST00000381529,p.V96I|ENST00000417535,p.V96I|ENST00000355805,p.V96I|uc010nct.2,p.V96I|uc010ncv.2,p.V96I|ENST00000381509,p.V96I|NM_172249,p.V96I|NM_001161529,p.V96I|uc011mhb.1,p.V96I	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mhb.1	nonsynonymous SNV	exon5	c.G286A	p.V96I	REICLHEGVTFEVHVNTSQRGFQQK	REICLHEGVTFEIHVNTSQRGFQQK	6.0	10.0	unscreened	-	3881_X:1407478-1407478 G>A_REICLHEGVTFEIHVNTSQRGFQQK
12:29463971-29463971 G>A	1.0	3881	MELANOMA	-	-	-	-	FAR2	uc009zjm.4,p.G163E|ENST00000547116,p.G163E|uc001ris.5,p.G260E|NM_018099,p.G260E|ENST00000536681,p.G260E|ENST00000182377,p.G260E|uc001rit.4,p.G260E|NM_001271784,p.G163E|NM_001271783,p.G260E	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zjm.4	nonsynonymous SNV	exon6	c.G488A	p.G163E	NGPNGIIIATGKGFLRAIKATPMAV	NGPNGIIIATGKEFLRAIKATPMAV	9.0	6.0	unscreened	-	3881_12:29463971-29463971 G>A_NGPNGIIIATGKEFLRAIKATPMAV
5:156514273-156514273 C>T	0.0	3881	MELANOMA	-	-	-	-	HAVCR2	ENST00000522593,p.G221E|uc003lwk.2,p.G249E|NM_032782,p.G249E|ENST00000307851,p.G249E	retained_intron, protein_coding, processed_transcript	uc003lwk.2	nonsynonymous SNV	exon7	c.G746A	p.G249E	LSLISLANLPPSGLANAVAEGIRSE	LSLISLANLPPSELANAVAEGIRSE	8.0	9.0	unscreened	-	3881_5:156514273-156514273 C>T_LSLISLANLPPSELANAVAEGIRSE
7:115596808-115596808 C>T	0.0	3881	MELANOMA	-	-	-	-	TFEC	ENST00000393485,p.G74R|uc003vhm.2,p.G36R|NM_001018058,p.G74R|ENST00000320239,p.G74R|NM_001244583,p.G36R|NM_012252,p.G103R|uc003vhl.4,p.G74R|ENST00000484212,p.G193R|uc011kmw.2,p.G193R|uc003vhk.2,p.G74R|uc003vhj.2,p.G103R|ENST00000265440,p.G103R|ENST00000457268,p.G36R	protein_coding, processed_transcript	uc011kmw.2	nonsynonymous SNV	exon6	c.G577A	p.G193R	SGSILDVYSGEQGISPINMGLTSAS	SGSILDVYSGEQRISPINMGLTSAS	7.0	5.0	unscreened	-	3881_7:115596808-115596808 C>T_SGSILDVYSGEQRISPINMGLTSAS
20:33851659-33851659 G>A	1.0	3881	MELANOMA	-	-	-	-	MMP24	uc002xbu.2,p.D295N|NM_006690,p.D295N|ENST00000246186,p.D295N	protein_coding	uc002xbu.2	nonsynonymous SNV	exon5	c.G883A	p.D295N	ELGHALGLEHSSDPSAIMAPFYQYM	ELGHALGLEHSSNPSAIMAPFYQYM	1.0	9.0	-	-	3881_20:33851659-33851659 G>A_ELGHALGLEHSSNPSAIMAPFYQYM
7:29035402-29035402 G>A	0.0	3881	MELANOMA	-	-	-	-	CPVL	uc003szx.3,p.P473S|uc003szv.3,p.P473S|NM_031311,p.P473S|ENST00000265394,p.P473S|ENST00000409850,p.P473S|ENST00000455893,p.P138S|NM_019029,p.P473S|ENST00000396276,p.P473S|uc003szw.3,p.P473S	protein_coding, processed_transcript	uc003szx.3	nonsynonymous SNV	exon17	c.C1417T	p.P473S	MINRFIYGKGWDPYVG	MINRFIYGKGWDSYVG	7.0	10.0	unscreened	-	3881_7:29035402-29035402 G>A_MINRFIYGKGWDSYVG
14:31626174-31626174 C>T	1.0	3881	MELANOMA	-	-	-	-	HECTD1	ENST00000553700,p.D602N|uc001wrc.1,p.D602N|ENST00000556224,p.D602N|uc001wrd.1,p.D117N|ENST00000553957,p.D76N|NM_015382,p.D602N|ENST00000399332,p.D602N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wrd.1	nonsynonymous SNV	exon3	c.G349A	p.D117N	DDGHLLALQIIRDLVDKGGDIFLDQ	DDGHLLALQIIRNLVDKGGDIFLDQ	10.0	7.0	unscreened	-	3881_14:31626174-31626174 C>T_DDGHLLALQIIRNLVDKGGDIFLDQ
17:4889515-4889515 C>T	1.0	3881	MELANOMA	-	-	-	-	CAMTA2	uc002gag.2,p.M24I|NM_001171167,p.M24I|NM_001171168,p.M24I|ENST00000361571,p.M24I|uc010cku.2,p.M24I|ENST00000414043,p.M24I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cku.2	nonsynonymous SNV	exon2	c.G72A	p.M24I	RPGVTLPPGALTMNTKDTTEVAENS	RPGVTLPPGALTINTKDTTEVAENS	8.0	8.0	-	-	3881_17:4889515-4889515 C>T_RPGVTLPPGALTINTKDTTEVAENS
1:231079581-231079581 G>A	1.0	3881	MELANOMA	-	-	-	-	TTC13	ENST00000366661,p.R215C|NM_024525,p.R215C|uc001huf.4,p.R215C	retained_intron, protein_coding, nonsense_mediated_decay	uc001huf.4	nonsynonymous SNV	exon6	c.C643T	p.R215C	FELSRVITLEPDRPEVFEQRAEILS	FELSRVITLEPDCPEVFEQRAEILS	8.0	1.0	unscreened	-	3881_1:231079581-231079581 G>A_FELSRVITLEPDCPEVFEQRAEILS
10:17276701-17276701 C>T	1.0	3881	MELANOMA	-	-	-	-	VIM	ENST00000224237,p.L298F|ENST00000544301,p.L298F|NM_003380,p.L298F|ENST00000421459,p.L124F|ENST00000487938,p.L298F|ENST00000469543,p.L116F|uc001iou.2,p.L298F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001iou.2	nonsynonymous SNV	exon6	c.C892T	p.L298F	EAEEWYKSKFADLSEAANRNNDALR	EAEEWYKSKFADFSEAANRNNDALR	10.0	10.0	-	-	3881_10:17276701-17276701 C>T_EAEEWYKSKFADFSEAANRNNDALR
21:42749783-42749783 C>T	0.0	3881	MELANOMA	-	-	ID=COSM139213;OCCURENCE=2(skin)	-	MX2	ENST00000436410,p.S106F|uc002yzf.1,p.S106F|NM_002463,p.S106F|ENST00000330714,p.S106F|ENST00000543692,p.S106F|ENST00000418103,p.S106F|ENST00000435611,p.S106F	retained_intron, protein_coding, processed_transcript	uc002yzf.1	nonsynonymous SNV	exon3	c.C317T	p.S106F	EQKVRPCIDLIDSLRALGVEQDLAL	EQKVRPCIDLIDFLRALGVEQDLAL	7.0	9.0	unscreened	-	3881_21:42749783-42749783 C>T_EQKVRPCIDLIDFLRALGVEQDLAL
6:133703576-133703576 C>T	1.0	3881	MELANOMA	-	-	-	-	EYA4	NM_172103,p.S27F|NM_001301012,p.S27F|ENST00000430974,p.S27F|ENST00000367895,p.S27F|ENST00000531901,p.S27F|ENST00000355286,p.S27F|ENST00000355167,p.S27F|uc011ecr.2,p.S27F|uc003qec.4,p.S27F|NM_172105,p.S27F|NM_004100,p.S27F|NM_001301013,p.S27F|ENST00000525849,p.S27F|uc003qed.4,p.S27F|uc003qee.4,p.S27F|uc011ecs.2,p.S27F|ENST00000452339,p.S27F|uc011ecq.2,p.S27F|ENST00000431403,p.S27F	retained_intron, protein_coding, processed_transcript	uc011ecs.2	nonsynonymous SNV	exon3	c.C80T	p.S27F	TCTESDVSQSQNSRSMEMQDLASPH	TCTESDVSQSQNFRSMEMQDLASPH	7.0	3.0	unscreened	-	3881_6:133703576-133703576 C>T_TCTESDVSQSQNFRSMEMQDLASPH
5:140581443-140581443 C>T	0.0	3881	MELANOMA	-	-	-	-	PCDHB11	ENST00000354757,p.S699L|uc003liy.3,p.S699L|ENST00000536699,p.S334L|NM_018931,p.S699L	protein_coding	uc003liy.3	nonsynonymous SNV	exon1	c.C2096T	p.S699L	TVYLVVALASVSSLFLFSVLLFVAV	TVYLVVALASVSLLFLFSVLLFVAV	6.0	8.0	unscreened	-	3881_5:140581443-140581443 C>T_TVYLVVALASVSLLFLFSVLLFVAV
2:179360361-179360361 C>T	1.0	3881	MELANOMA	-	-	-	-	PLEKHA3	uc002umn.3,p.P197S|ENST00000234453,p.P197S|NM_019091,p.P197S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002umn.3	nonsynonymous SNV	exon5	c.C589T	p.P197S	MFQLHHPDPLVSPVSPSPVQMMKRS	MFQLHHPDPLVSSVSPSPVQMMKRS	6.0	5.0	unscreened	-	3881_2:179360361-179360361 C>T_MFQLHHPDPLVSSVSPSPVQMMKRS
1:209956846-209956846 G>A	1.0	3881	MELANOMA	-	-	-	-	C1orf74	NM_152485,p.A45V|ENST00000294811,p.A45V|uc001hhp.1,p.A45V|uc021pio.1,p.A45V	protein_coding	uc021pio.1	nonsynonymous SNV	exon1	c.C134T	p.A45V	QAICLHLAGEVLAVARGLKPAVLYD	QAICLHLAGEVLVVARGLKPAVLYD	5.0	5.0	unscreened	-	3881_1:209956846-209956846 G>A_QAICLHLAGEVLVVARGLKPAVLYD
17:3833617-3833617 C>T	0.0	3881	MELANOMA	-	-	-	-	ATP2A3	NM_174957,p.E908K|ENST00000570845,p.E17K|uc002fxc.2,p.E908K|uc002fwx.2,p.E908K|ENST00000397041,p.E908K|NM_005173,p.E908K|NM_174956,p.E908K|NM_174954,p.E908K|ENST00000309890,p.E908K|uc002fwz.2,p.E908K|ENST00000397039,p.E92K|ENST00000359983,p.E908K|uc002fxd.2,p.E908K|ENST00000352011,p.E908K|ENST00000397043,p.E908K|NM_174953,p.E908K|NM_174955,p.E908K|uc002fwy.2,p.E908K|NM_174958,p.E908K|uc002fxb.2,p.E908K|ENST00000397035,p.E908K|uc002fxa.2,p.E908K|ENST00000572116,p.E17K	retained_intron, protein_coding	uc002fxd.2	nonsynonymous SNV	exon18	c.G2722A	p.E908K	PTTMALSVLVTIEMCNALNSVSENQ	PTTMALSVLVTIKMCNALNSVSENQ	6.0	10.0	unscreened	-	3881_17:3833617-3833617 C>T_PTTMALSVLVTIKMCNALNSVSENQ
13:32753924-32753924 C>T	0.0	3881	MELANOMA	-	-	-	-	FRY	NM_023037,p.S995F|uc001utx.3,p.S995F|ENST00000380250,p.S995F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001utx.3	nonsynonymous SNV	exon23	c.C2984T	p.S995F	TESLVLGFGRTNSLVFRELVEELHP	TESLVLGFGRTNFLVFRELVEELHP	5.0	1.0	unscreened	-	3881_13:32753924-32753924 C>T_TESLVLGFGRTNFLVFRELVEELHP
11:12534881-12534881 C>T	1.0	3881	MELANOMA	-	-	-	-	PARVA	ENST00000538608,p.P205S|uc010rck.1,p.P205S	retained_intron, protein_coding, processed_transcript	uc010rck.1	nonsynonymous SNV	exon9	c.C613T	p.P205S	ERDAFDTLFDHAPDKLNVVKKVGKG	ERDAFDTLFDHASDKLNVVKKVGKG	9.0	4.0	unscreened	-	3881_11:12534881-12534881 C>T_ERDAFDTLFDHASDKLNVVKKVGKG
16:67188716-67188716 C>T	1.0	3881	MELANOMA	-	-	-	-	TRADD	ENST00000345057,p.E259K|uc002eri.1,p.E259K|ENST00000486556,p.E199K|NM_003789,p.E259K|uc002erh.1,p.E199K	retained_intron, protein_coding, processed_transcript	uc002eri.1	nonsynonymous SNV	exon5	c.G775A	p.E259K	PALDSLAYEYEREGLYEQAFQLLRR	PALDSLAYEYERKGLYEQAFQLLRR	6.0	9.0	unscreened	-	3881_16:67188716-67188716 C>T_PALDSLAYEYERKGLYEQAFQLLRR
20:36997662-36997662 G>A	0.0	3881	MELANOMA	-	-	-	-	LBP	uc002xic.2,p.M335I|NM_004139,p.M335I|ENST00000217407,p.M335I	protein_coding	uc002xic.2	nonsynonymous SNV	exon10	c.G1005A	p.M335I	PFVPRLARLYPNMNLELQGSVPSAP	PFVPRLARLYPNINLELQGSVPSAP	1.0	7.0	unscreened	-	3881_20:36997662-36997662 G>A_PFVPRLARLYPNINLELQGSVPSAP
1:149898352-149898352 G>A	1.0	3881	MELANOMA	-	-	-	-	SF3B4	uc009wll.1,p.H208Y|NM_005850,p.H208Y|ENST00000457312,p.H165Y|ENST00000271628,p.H208Y|uc001etk.2,p.H208Y	protein_coding	uc009wll.1	nonsynonymous SNV	exon3	c.C622T	p.H208Y	AAQNPLSQADRPHQLFADAPPPPSA	AAQNPLSQADRPYQLFADAPPPPSA	8.0	9.0	-	-	3881_1:149898352-149898352 G>A_AAQNPLSQADRPYQLFADAPPPPSA
8:135614967-135614967 G>A	1.0	3881	MELANOMA	-	-	-	-	ZFAT	NM_001174158,p.S320L|NM_020863,p.S332L|uc003yup.3,p.S332L|ENST00000523399,p.S270L|uc003yur.3,p.S320L|uc003yuo.3,p.S320L|NM_001029939,p.S320L|ENST00000520356,p.S320L|ENST00000523243,p.S332L|uc010meh.3,p.S320L|ENST00000520727,p.S320L|uc010mej.3,p.S270L|ENST00000520214,p.S320L|ENST00000429442,p.S320L|uc003yun.3,p.S320L|NM_001174157,p.S270L|NM_001167583,p.S320L|uc003yuq.3,p.S320L|NM_001289394,p.S320L|ENST00000377838,p.S332L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mej.3	nonsynonymous SNV	exon5	c.C809T	p.S270L	KHTGEKFACDYCSFTCLSKGHLKVH	KHTGEKFACDYCLFTCLSKGHLKVH	6.0	9.0	-	-	3881_8:135614967-135614967 G>A_KHTGEKFACDYCLFTCLSKGHLKVH
16:3340379-3340379 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF263	ENST00000538765,p.H273Y|uc002cuq.3,p.H625Y|uc002cur.2,p.H273Y|ENST00000219069,p.H625Y|uc010uww.2,p.H273Y|NM_005741,p.H625Y	protein_coding, processed_transcript	uc010uww.2	nonsynonymous SNV	exon2	c.C817T	p.H273Y	SHRSNLIRHQRIHTGEKPYTCHECG	SHRSNLIRHQRIYTGEKPYTCHECG	7.0	9.0	-	-	3881_16:3340379-3340379 C>T_SHRSNLIRHQRIYTGEKPYTCHECG
6:130536415-130536415 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1697972,COSM1697973;OCCURENCE=1(skin)	-	SAMD3	ENST00000457563,p.E26K|NM_001277185,p.E26K|uc031spp.1,p.E26K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031spp.1	nonsynonymous SNV	exon2	c.G76A	p.E26K	EKQGVYLQETAMETWSVEQVCSWLV	EKQGVYLQETAMKTWSVEQVCSWLV	5.0	10.0	unscreened	-	3881_6:130536415-130536415 C>T_EKQGVYLQETAMKTWSVEQVCSWLV
11:64496373-64496373 G>A	0.0	3881	MELANOMA	-	-	-	-	RASGRP2	uc001oat.3,p.S480F|NM_153819,p.S578F|ENST00000377497,p.S578F|uc009ypw.3,p.S578F|uc009ypv.3,p.S578F|ENST00000354024,p.S578F|ENST00000377494,p.S578F|ENST00000394432,p.S578F|NM_001098671,p.S578F|NM_001098670,p.S578F|uc009ypu.3,p.S578F|uc001oau.3,p.S433F	retained_intron, protein_coding, nonsense_mediated_decay	uc009ypw.3	nonsynonymous SNV	exon15	c.C1733T	p.S578F	PMHSHHHRAFSFSLPRPGRRGSRPP	PMHSHHHRAFSFFLPRPGRRGSRPP	5.0	7.0	unscreened	-	3881_11:64496373-64496373 G>A_PMHSHHHRAFSFFLPRPGRRGSRPP
5:137910947-137910947 G>A	1.0	3881	MELANOMA	-	-	-	-	HSPA9	uc003ldf.3,p.P21S|NM_004134,p.P21S|ENST00000297185,p.P21S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ldf.3	nonsynonymous SNV	exon1	c.C61T	p.P21S	AARLVGAAASRGPTAARHQDSWNGL	AARLVGAAASRGSTAARHQDSWNGL	10.0	7.0	unscreened	-	3881_5:137910947-137910947 G>A_AARLVGAAASRGSTAARHQDSWNGL
1:236142351-236142351 G>A	1.0	3881	MELANOMA	-	-	-	-	NID1	ENST00000366595,p.P1056L|NM_002508,p.P1189L|ENST00000264187,p.P1189L|uc001hxo.3,p.P1189L|uc009xgd.3,p.P1056L|uc009xgc.3,p.P270L	protein_coding	uc009xgd.3	nonsynonymous SNV	exon16	c.C3167T	p.P1056L	DLAISKETDAFQPHKQTRLYGITTA	DLAISKETDAFQLHKQTRLYGITTA	7.0	9.0	-	-	3881_1:236142351-236142351 G>A_DLAISKETDAFQLHKQTRLYGITTA
22:30077550-30077550 C>T	1.0	3881	MELANOMA	-	-	-	1	NF2	uc003agg.4,p.S566F|ENST00000403999,p.S566F|NM_181831,p.S483F|uc003afz.4,p.S483F|ENST00000361166,p.S566F|uc011akq.2,p.S192F|uc003age.4,p.S566F|NM_181832,p.S566F|ENST00000361452,p.S525F|uc003afy.4,p.S566F|NM_000268,p.S566F|uc003agb.4,p.S489F|uc003agf.4,p.S566F|NM_181825,p.S566F|uc003agi.4,p.S483F|uc003agc.4,p.S528F|NM_181828,p.S524F|ENST00000397789,p.S566F|uc003agh.4,p.S525F|ENST00000353887,p.S483F|uc003aga.4,p.S524F|ENST00000361676,p.S524F|NM_181830,p.S483F|ENST00000334961,p.S483F|uc010gvp.3,p.S230F|ENST00000403435,p.S537F|NM_016418,p.S566F|NM_181829,p.S525F|ENST00000338641,p.S566F	protein_coding, nonsense_mediated_decay	uc011akq.2	nonsynonymous SNV	exon4	c.C575T	p.S192F	RETALDILHNENSDRGGSSKHNTIK	RETALDILHNENFDRGGSSKHNTIK	8.0	5.0	unscreened	-	3881_22:30077550-30077550 C>T_RETALDILHNENFDRGGSSKHNTIK
10:33552607-33552607 C>T	0.0	3881	MELANOMA	-	-	-	-	NRP1	ENST00000395995,p.D209N|uc001ixc.1,p.D209N|ENST00000374822,p.D209N|uc001ixb.2,p.D209N|uc009xlz.3,p.D209N|uc001iww.4,p.D28N|ENST00000374875,p.D28N|ENST00000374823,p.D209N|ENST00000374816,p.D209N|uc001iwx.4,p.D209N|NM_001244972,p.D209N|ENST00000265371,p.D209N|ENST00000374821,p.D209N|uc001iwy.4,p.D209N|uc001iwv.4,p.D209N|NM_001024628,p.D209N|uc001ixa.2,p.D209N|ENST00000374867,p.D209N|NM_001024629,p.D209N|NM_003873,p.D209N|uc001iwz.2,p.D209N|NM_001244973,p.D209N	protein_coding, processed_transcript	uc009xlz.3	nonsynonymous SNV	exon4	c.G625A	p.D209N	DSNPPGGMFCRYDRLEIWDGFPDVG	DSNPPGGMFCRYNRLEIWDGFPDVG	9.0	1.0	unscreened	-	3881_10:33552607-33552607 C>T_DSNPPGGMFCRYNRLEIWDGFPDVG
4:69817145-69817145 C>T	0.0	3881	MELANOMA	-	-	-	-	UGT2A3	ENST00000251566,p.D112N|uc003hef.2,p.D112N|NM_024743,p.D112N	protein_coding, nonsense_mediated_decay	uc003hef.2	nonsynonymous SNV	exon1	c.G334A	p.D112N	GLSTWQSVIKLNDFFVEIRGTLKMM	GLSTWQSVIKLNNFFVEIRGTLKMM	1.0	1.0	unscreened	-	3881_4:69817145-69817145 C>T_GLSTWQSVIKLNNFFVEIRGTLKMM
11:22833419-22833419 G>A	1.0	3881	MELANOMA	-	-	-	-	GAS2	uc001mqo.3,p.D267N|uc001mqm.3,p.D267N|uc009yie.3,p.D267N|ENST00000454584,p.D267N|NM_001143830,p.D267N|ENST00000433790,p.D267N|NM_177553,p.D267N|ENST00000278187,p.D267N|NM_005256,p.D267N	protein_coding, processed_transcript, nonsense_mediated_decay	uc009yie.3	nonsynonymous SNV	exon8	c.G799A	p.D267N	GWETFAGYLLKHDPCRMLQISRVDG	GWETFAGYLLKHNPCRMLQISRVDG	8.0	6.0	unscreened	-	3881_11:22833419-22833419 G>A_GWETFAGYLLKHNPCRMLQISRVDG
9:131186833-131186833 C>T	1.0	3881	MELANOMA	-	-	-	-	CERCAM	uc004buz.4,p.P236S|ENST00000420512,p.P158S|uc004buy.1,p.P158S|NM_001286760,p.P158S|ENST00000372838,p.P236S|uc010mya.1,p.P77S|uc010mxz.3,p.P158S|NM_016174,p.P236S|ENST00000372842,p.P158S	retained_intron, protein_coding, processed_transcript	uc010mya.1	nonsynonymous SNV	exon2	c.C229T	p.P77S	EGADQLAFYPPHPNYTWPFDDIIVF	EGADQLAFYPPHSNYTWPFDDIIVF	5.0	10.0	unscreened	-	3881_9:131186833-131186833 C>T_EGADQLAFYPPHSNYTWPFDDIIVF
22:33733727-33733727 G>A	1.0	3881	MELANOMA	-	-	ID=COSM175216;OCCURENCE=1(large_intestine)	-	LARGE	uc011amf.2,p.R398C|ENST00000354992,p.R398C|uc011amd.2,p.R197C|NM_133642,p.R398C|NM_004737,p.R398C|ENST00000452586,p.R197C|ENST00000397394,p.R398C|uc003and.4,p.R398C|ENST00000437602,p.R398C|uc011ame.2,p.R330C|uc003ane.4,p.R398C	protein_coding, processed_transcript	uc011amf.2	nonsynonymous SNV	exon10	c.C1192T	p.R398C	KLRVKNKHVEFFRNLYLTFLEYDGN	KLRVKNKHVEFFCNLYLTFLEYDGN	8.0	3.0	unscreened	-	3881_22:33733727-33733727 G>A_KLRVKNKHVEFFCNLYLTFLEYDGN
16:22269971-22269971 T>G	1.0	3881	MELANOMA	-	-	-	-	EEF2K	NM_013302,p.S396A|ENST00000568269,p.S396A|uc002dki.3,p.S396A|ENST00000263026,p.S396A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dki.3	nonsynonymous SNV	exon10	c.T1186G	p.S396A	NMSDVTFDSLPSSPSSATPHSQKLD	NMSDVTFDSLPSAPSSATPHSQKLD	8.0	6.0	unscreened	-	3881_16:22269971-22269971 T>G_NMSDVTFDSLPSAPSSATPHSQKLD
19:10288031-10288031 G>A	1.0	3881	MELANOMA	-	-	-	-	DNMT1	ENST00000588952,p.P32L|ENST00000540357,p.P153L|ENST00000592054,p.P32L|uc010xld.2,p.P153L|ENST00000340748,p.P153L|uc002mng.3,p.P153L|NM_001379,p.P153L|ENST00000588118,p.P208L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xld.2	nonsynonymous SNV	exon5	c.C458T	p.P153L	SKSDGEAKPEPSPSPRITRKSTRQT	SKSDGEAKPEPSLSPRITRKSTRQT	10.0	5.0	unscreened	-	3881_19:10288031-10288031 G>A_SKSDGEAKPEPSLSPRITRKSTRQT
6:125397950-125397950 C>T	1.0	3881	MELANOMA	-	-	ID=COSM1697873,COSM1697874;OCCURENCE=3(skin)	-	RNF217	NM_152553,p.R185C|uc003pzs.3,p.R185C|uc003pzr.3,p.R242C|ENST00000521654,p.R477C|NM_001286398,p.R477C|ENST00000359704,p.R185C|ENST00000560949,p.R242C|ENST00000368414,p.R39C|ENST00000275184,p.R121C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pzs.3	nonsynonymous SNV	exon6	c.C553T	p.R185C	HTSNLSIFGCKYRYLPERPHLRRLV	HTSNLSIFGCKYCYLPERPHLRRLV	6.0	10.0	-	-	3881_6:125397950-125397950 C>T_HTSNLSIFGCKYCYLPERPHLRRLV
10:129899793-129899793 G>T	1.0	3881	MELANOMA	-	-	-	-	MKI67	NM_002417,p.P3145H|uc001lke.3,p.P3145H|ENST00000368653,p.P2785H|NM_001145966,p.P2785H|ENST00000368654,p.P3145H|uc001lkf.3,p.P2785H	protein_coding, processed_transcript	uc001lkf.3	nonsynonymous SNV	exon13	c.C8354A	p.P2785H	IQNPDDGARKPIPRDKVTENKRCLR	IQNPDDGARKPIHRDKVTENKRCLR	7.0	2.0	unscreened	-	3881_10:129899793-129899793 G>T_IQNPDDGARKPIHRDKVTENKRCLR
1:157504671-157504671 G>A	0.0	3881	MELANOMA	-	-	ID=COSM414417;OCCURENCE=1(urinary_tract)	-	FCRL5	ENST00000368191,p.H387Y|uc010phv.1,p.H472Y|uc001fqv.1,p.H472Y|ENST00000356953,p.H472Y|ENST00000368189,p.H472Y|uc009wsm.3,p.H472Y|uc010phw.1,p.H387Y|NM_001195388,p.H472Y|uc001fqu.3,p.H472Y|NM_031281,p.H472Y|ENST00000368190,p.H472Y|ENST00000361835,p.H472Y|uc010phx.2,p.H223Y	protein_coding, processed_transcript	uc010phx.2	nonsynonymous SNV	exon9	c.C667T	p.H223Y	KAVSLSVTVPVSHPVLTLSSAEALT	KAVSLSVTVPVSYPVLTLSSAEALT	5.0	9.0	unscreened	-	3881_1:157504671-157504671 G>A_KAVSLSVTVPVSYPVLTLSSAEALT
1:75684205-75684205 G>A	1.0	3881	MELANOMA	-	-	-	-	SLC44A5	uc001dgr.2,p.P458L|NM_001130058,p.P500L|uc001dgu.3,p.P500L|uc010ora.2,p.P494L|ENST00000370855,p.P500L|ENST00000535611,p.P370L|NM_152697,p.P500L|uc001dgt.2,p.P500L|uc010orb.2,p.P370L|uc010oqz.1,p.P539L|uc001dgs.2,p.P458L|ENST00000370859,p.P500L	protein_coding, processed_transcript	uc010orb.2	nonsynonymous SNV	exon15	c.C1109T	p.P370L	WAMKKPDDIPRYPLFTAFGRAIRYH	WAMKKPDDIPRYLLFTAFGRAIRYH	4.0	5.0	unscreened	-	3881_1:75684205-75684205 G>A_WAMKKPDDIPRYLLFTAFGRAIRYH
16:88714503-88714503 G>A	1.0	3881	MELANOMA	-	-	-	-	CYBA	ENST00000566229,p.R23C	retained_intron, protein_coding, processed_transcript	ENST00000566229	nonsynonymous SNV	exon2	c.C67T	p.R23C	CLAQHGPHHRGHRGHSWALHPVVLW	CLAQHGPHHRGHCGHSWALHPVVLW	8.0	9.0	-	-	3881_16:88714503-88714503 G>A_CLAQHGPHHRGHCGHSWALHPVVLW
3:48618063-48618063 G>A	1.0	3881	MELANOMA	-	-	-	-	COL7A1	NM_000094,p.P1668L|ENST00000454817,p.P1668L|uc003ctz.2,p.P1668L|ENST00000328333,p.P1668L	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon54	c.C5003T	p.P1668L	ERGLRGAPGVRGPVGEKGDQGDPGE	ERGLRGAPGVRGLVGEKGDQGDPGE	5.0	10.0	-	-	3881_3:48618063-48618063 G>A_ERGLRGAPGVRGLVGEKGDQGDPGE
3:12877628-12877628 G>A	1.0	3881	MELANOMA	-	-	-	-	RPL32	ENST00000273223,p.P143S|NM_001007074,p.P125S|ENST00000435983,p.P125S|ENST00000396953,p.P125S|uc003bxn.3,p.P125S|ENST00000396957,p.P125S|uc003bxm.3,p.P125S|NM_000994,p.P125S|ENST00000429711,p.P125S|NM_001007073,p.P125S|uc003bxl.3,p.P125S	retained_intron, protein_coding	uc003bxn.3	nonsynonymous SNV	exon4	c.C373T	p.P125S	ERAAQLAIRVTNPNARLRSEENE	ERAAQLAIRVTNSNARLRSEENE	10.0	10.0	-	-	3881_3:12877628-12877628 G>A_ERAAQLAIRVTNSNARLRSEENE
5:33467730-33467730 G>A	1.0	3881	MELANOMA	-	-	-	-	TARS	uc031sja.1,p.G697R|ENST00000455217,p.G730R|ENST00000265112,p.G697R|ENST00000541634,p.G593R|NM_001258437,p.G697R|NM_001258438,p.G730R|uc003jhz.4,p.G593R|uc010iup.2,p.G638R|NM_152295,p.G697R|uc011cod.3,p.G576R|uc003jhy.4,p.G697R|ENST00000502553,p.G697R|uc011coc.3,p.G730R|ENST00000414361,p.G576R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sja.1	nonsynonymous SNV	exon20	c.G2089A	p.G697R	TVNIRTRDNKVHGERTISETIERLQ	TVNIRTRDNKVHRERTISETIERLQ	10.0	1.0	unscreened	-	3881_5:33467730-33467730 G>A_TVNIRTRDNKVHRERTISETIERLQ
17:64880734-64880734 G>A	0.0	3881	MELANOMA	-	-	-	-	CACNG5	ENST00000169565,p.G176R|ENST00000533854,p.G176R|uc010wqj.2,p.G176R|uc010wqi.2,p.G176R|NM_145811,p.G176R|ENST00000307139,p.G176R	protein_coding	uc010wqj.2	nonsynonymous SNV	exon4	c.G526A	p.G176R	TKDAETYFNYKYGWSFAFAAISFLL	TKDAETYFNYKYRWSFAFAAISFLL	1.0	3.0	unscreened	-	3881_17:64880734-64880734 G>A_TKDAETYFNYKYRWSFAFAAISFLL
X:77270193-77270193 C>T	0.0	3881	MELANOMA	-	-	-	-	ATP7A	ENST00000341514,p.S814L|uc004ecx.4,p.S814L|NM_000052,p.S814L	protein_coding	uc004ecx.4	nonsynonymous SNV	exon11	c.C2441T	p.S814L	KGKTSEALAKLISLQATEATIVTLD	KGKTSEALAKLILLQATEATIVTLD	8.0	6.0	unscreened	-	3881_X:77270193-77270193 C>T_KGKTSEALAKLILLQATEATIVTLD
X:77270193-77270193 C>T	0.0	3881	MELANOMA	-	-	-	-	ATP7A	ENST00000343533,p.S736L|NM_001282224,p.S736L	protein_coding	NM_001282224	nonsynonymous SNV	exon10	c.C2207T	p.S736L	QGKTSEALAKLISLQATEATIVTLD	QGKTSEALAKLILLQATEATIVTLD	8.0	6.0	unscreened	-	3881_X:77270193-77270193 C>T_QGKTSEALAKLILLQATEATIVTLD
X:70149561-70149561 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC7A3	uc004dyo.3,p.S96L|ENST00000298085,p.S96L|NM_032803,p.S96L|uc004dyn.3,p.S96L|ENST00000374299,p.S96L|NM_001048164,p.S96L	protein_coding	uc004dyo.3	nonsynonymous SNV	exon2	c.C287T	p.S96L	YAEFGARVPRSGSAYLYSYVTVGEL	YAEFGARVPRSGLAYLYSYVTVGEL	1.0	1.0	unscreened	-	3881_X:70149561-70149561 G>A_YAEFGARVPRSGLAYLYSYVTVGEL
5:137910947-137910947 G>A	1.0	3881	MELANOMA	-	-	-	-	HSPA9	ENST00000505110,p.P21S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000505110	nonsynonymous SNV	exon1	c.C61T	p.P21S	AARLVGAAASRGPTAARHQIRSNQG	AARLVGAAASRGSTAARHQIRSNQG	10.0	7.0	unscreened	-	3881_5:137910947-137910947 G>A_AARLVGAAASRGSTAARHQIRSNQG
9:6990462-6990462 T>C	1.0	3881	MELANOMA	-	-	-	-	KDM4C	ENST00000543771,p.L575P|NM_001146694,p.L575P|ENST00000535193,p.L597P|NM_001146696,p.L597P|uc011lml.2,p.L262P|uc003zkh.3,p.L575P|ENST00000381306,p.L575P|uc003zkg.3,p.L575P|ENST00000428870,p.L262P|ENST00000381309,p.L575P|uc011lmi.1,p.L575P|NM_001146695,p.L575P|uc010mhu.2,p.L597P|ENST00000536108,p.L394P|NM_015061,p.L575P	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lml.2	nonsynonymous SNV	exon5	c.T785C	p.L262P	GENKTSKSWRHPLSRPPARSPMTLV	GENKTSKSWRHPPSRPPARSPMTLV	8.0	9.0	-	-	3881_9:6990462-6990462 T>C_GENKTSKSWRHPPSRPPARSPMTLV
1:77515951-77515951 C>T	1.0	3881	MELANOMA	-	-	-	-	ST6GALNAC5	uc001dhi.3,p.S227F|NM_030965,p.S227F|ENST00000477717,p.S227F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001dhi.3	nonsynonymous SNV	exon4	c.C680T	p.S227F	LFKQETGKDRKISNTWLSTGWFTMT	LFKQETGKDRKIFNTWLSTGWFTMT	9.0	4.0	unscreened	-	3881_1:77515951-77515951 C>T_LFKQETGKDRKIFNTWLSTGWFTMT
17:56386575-56386575 G>A	1.0	3881	MELANOMA	-	-	-	-	BZRAP1	uc002ivx.5,p.S1353F|ENST00000268893,p.S1293F|NM_001261835,p.S1353F|uc010dcs.4,p.S1293F|ENST00000355701,p.S1353F|ENST00000343736,p.S1353F|uc010wnt.3,p.S1353F|NM_004758,p.S1353F|NM_024418,p.S1293F	retained_intron, protein_coding	uc010wnt.3	nonsynonymous SNV	exon22	c.C4058T	p.S1353F	EDEEEEKSGAGCSSRDPGPPEPALL	EDEEEEKSGAGCFSRDPGPPEPALL	6.0	3.0	unscreened	-	3881_17:56386575-56386575 G>A_EDEEEEKSGAGCFSRDPGPPEPALL
1:110038495-110038495 C>T	1.0	3881	MELANOMA	-	-	-	-	CYB561D1	ENST00000528785,p.L102F|uc010ovl.2,p.L45F|ENST00000420578,p.L102F|ENST00000393709,p.L45F|NM_001134400,p.L124F|uc010ovo.2,p.L124F|uc010ovm.2,p.L44F|uc010ovp.2,p.L36F|uc009wfd.3,p.L51F|NM_001134402,p.L45F|NM_182580,p.L102F|uc010ovn.2,p.L102F|ENST00000369868,p.L124F	protein_coding, processed_transcript	uc010ovp.2	nonsynonymous SNV	exon2	c.C106T	p.L36F	IRLHWAGQTLAILCAALGLGFIISS	IRLHWAGQTLAIFCAALGLGFIISS	5.0	9.0	unscreened	-	3881_1:110038495-110038495 C>T_IRLHWAGQTLAIFCAALGLGFIISS
1:158669694-158669694 G>A	0.0	3881	MELANOMA	-	-	ID=COSM458517;OCCURENCE=1(cervix)	-	OR6K2	ENST00000359610,p.S250L|uc001fsu.1,p.S250L|NM_001005279,p.S250L	protein_coding	uc001fsu.1	nonsynonymous SNV	exon1	c.C749T	p.S250L	AFSTCVSHFIVFSLFFGSVTLMYLR	AFSTCVSHFIVFLLFFGSVTLMYLR	1.0	8.0	unscreened	-	3881_1:158669694-158669694 G>A_AFSTCVSHFIVFLLFFGSVTLMYLR
17:3838547-3838547 G>A	0.0	3881	MELANOMA	-	-	-	-	ATP2A3	NM_174953,p.A850V|NM_005173,p.A850V|NM_174958,p.A850V|ENST00000359983,p.A850V|NM_174956,p.A850V|uc002fwy.2,p.A850V|NM_174955,p.A850V|ENST00000397039,p.A34V|ENST00000397035,p.A850V|NM_174954,p.A850V|NM_174957,p.A850V|uc002fxb.2,p.A850V|ENST00000397043,p.A850V|uc002fxd.2,p.A850V|uc002fwz.2,p.A850V|ENST00000309890,p.A850V|uc002fwx.2,p.A850V|uc002fxc.2,p.A850V|uc002fxa.2,p.A850V|ENST00000352011,p.A850V|ENST00000397041,p.A850V	retained_intron, protein_coding	uc002fxd.2	nonsynonymous SNV	exon17	c.C2549T	p.A850V	LAIGVYVGLATVAAATWWFVYDAEG	LAIGVYVGLATVVAATWWFVYDAEG	6.0	2.0	unscreened	-	3881_17:3838547-3838547 G>A_LAIGVYVGLATVVAATWWFVYDAEG
7:24689345-24689345 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1088680;OCCURENCE=1(endometrium)	-	MPP6	ENST00000432190,p.R129C|NM_016447,p.R129C|ENST00000409761,p.R17C|uc003swy.3,p.R129C|ENST00000396475,p.R129C|ENST00000222644,p.R129C|uc003swx.3,p.R129C|ENST00000430180,p.R129C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003swy.3	nonsynonymous SNV	exon4	c.C385T	p.R129C	SINNQLLPVDAIRILGIHKRAGEPL	SINNQLLPVDAICILGIHKRAGEPL	7.0	3.0	unscreened	-	3881_7:24689345-24689345 C>T_SINNQLLPVDAICILGIHKRAGEPL
16:50263084-50263084 C>T	1.0	3881	MELANOMA	-	-	-	-	PAPD5	ENST00000436909,p.R648C|ENST00000357464,p.R569C|uc002efz.3,p.R601C|NM_001040285,p.R601C|NM_001040284,p.R648C|ENST00000561678,p.R538C|uc010vgo.2,p.R648C	protein_coding, processed_transcript	uc010vgo.2	nonsynonymous SNV	exon13	c.C1942T	p.R648C	TNKSQHGSARLFRSSSKGFQGTTQT	TNKSQHGSARLFCSSSKGFQGTTQT	8.0	6.0	unscreened	-	3881_16:50263084-50263084 C>T_TNKSQHGSARLFCSSSKGFQGTTQT
1:245847679-245847679 G>A	1.0	3881	MELANOMA	-	-	-	-	KIF26B	ENST00000407071,p.M801I|uc001ibg.1,p.M419I|ENST00000366518,p.M420I|uc001ibh.1,p.M43I|NM_018012,p.M801I|uc001ibf.1,p.M801I	retained_intron, protein_coding, processed_transcript	uc001ibh.1	nonsynonymous SNV	exon2	c.G129A	p.M43I	LSTIQIASRVLRMKKKKTKYTSSSS	LSTIQIASRVLRIKKKKTKYTSSSS	7.0	3.0	unscreened	-	3881_1:245847679-245847679 G>A_LSTIQIASRVLRIKKKKTKYTSSSS
20:2464085-2464085 G>A	1.0	3881	MELANOMA	-	-	-	-	ZNF343	NM_001282495,p.L508F|NM_001282497,p.L549F|uc010gao.1,p.L508F|uc002wge.1,p.L508F|uc002wgd.1,p.L418F|ENST00000278772,p.L508F|NM_001282498,p.L418F|NM_024325,p.L508F|NM_001282496,p.L508F	protein_coding, processed_transcript	uc010gao.1	nonsynonymous SNV	exon7	c.C1522T	p.L508F	RECRRGFSQKSNLIRHQRTHSNEKP	RECRRGFSQKSNFIRHQRTHSNEKP	7.0	1.0	unscreened	-	3881_20:2464085-2464085 G>A_RECRRGFSQKSNFIRHQRTHSNEKP
19:36727958-36727958 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF146	NM_001099639,p.H206Y|uc002odq.4,p.H206Y|NM_007145,p.H206Y|uc021ute.1,p.H206Y|ENST00000456324,p.H206Y|uc010eet.3,p.H206Y|uc010eeu.3,p.H206Y|ENST00000443387,p.H206Y|NM_001099638,p.H206Y	retained_intron, protein_coding, processed_transcript	uc021ute.1	nonsynonymous SNV	exon1	c.C616T	p.H206Y	SQRTSLIVHVRIHSGDKPYECNVCG	SQRTSLIVHVRIYSGDKPYECNVCG	10.0	5.0	unscreened	-	3881_19:36727958-36727958 C>T_SQRTSLIVHVRIYSGDKPYECNVCG
15:91030755-91030755 C>T	1.0	3881	MELANOMA	-	-	-	-	IQGAP1	uc010uqg.1,p.R18W	retained_intron, protein_coding, processed_transcript	uc010uqg.1	nonsynonymous SNV	exon1	c.C52T	p.R18W	RFSTKRLIVDVIRFQPGETLTEILE	RFSTKRLIVDVIWFQPGETLTEILE	10.0	2.0	unscreened	-	3881_15:91030755-91030755 C>T_RFSTKRLIVDVIWFQPGETLTEILE
15:91030755-91030755 C>T	1.0	3881	MELANOMA	-	-	-	-	IQGAP1	uc002bpl.1,p.R1397W|ENST00000560738,p.R825W|ENST00000268182,p.R1397W|NM_003870,p.R1397W	retained_intron, protein_coding, processed_transcript	uc002bpl.1	nonsynonymous SNV	exon33	c.C4189T	p.R1397W	LLNTKRLIVDVIRFQPGETLTEILE	LLNTKRLIVDVIWFQPGETLTEILE	10.0	2.0	unscreened	-	3881_15:91030755-91030755 C>T_LLNTKRLIVDVIWFQPGETLTEILE
10:77807000-77807000 G>A	0.0	3881	MELANOMA	-	-	-	-	C10orf11	ENST00000372499,p.V85M|NM_032024,p.V85M|uc001jxi.3,p.V85M	protein_coding, processed_transcript	uc001jxi.3	nonsynonymous SNV	exon3	c.G253A	p.V85M	TPALEYLSLLGNVACPNELVSLEKD	TPALEYLSLLGNMACPNELVSLEKD	10.0	1.0	unscreened	-	3881_10:77807000-77807000 G>A_TPALEYLSLLGNMACPNELVSLEKD
10:128926003-128926003 C>T	0.0	3881	MELANOMA	-	-	-	-	DOCK1	NM_001290223,p.S941F|uc010qun.2,p.S941F|NM_001380,p.S920F|uc001ljt.3,p.S920F|ENST00000280333,p.S920F	protein_coding, processed_transcript	uc010qun.2	nonsynonymous SNV	exon27	c.C2822T	p.S941F	EKLLRTVNRTVISMGRDSELIGNFV	EKLLRTVNRTVIFMGRDSELIGNFV	7.0	1.0	unscreened	-	3881_10:128926003-128926003 C>T_EKLLRTVNRTVIFMGRDSELIGNFV
6:20758862-20758862 G>A	1.0	3881	MELANOMA	-	-	-	-	CDKAL1	NM_017774,p.E169K|uc003ndd.2,p.E169K|uc003nde.2,p.E99K|ENST00000378610,p.E169K|ENST00000378624,p.E99K|ENST00000274695,p.E169K|uc021ymk.1,p.E169K	protein_coding, processed_transcript	uc021ymk.1	nonsynonymous SNV	exon5	c.G505A	p.E169K	VQQIDRVVEVVEETIKGHSVRLLGQ	VQQIDRVVEVVEKTIKGHSVRLLGQ	7.0	3.0	unscreened	-	3881_6:20758862-20758862 G>A_VQQIDRVVEVVEKTIKGHSVRLLGQ
1:245704112-245704112 C>T	1.0	3881	MELANOMA	-	-	ID=COSM275738,COSM275739;OCCURENCE=1(large_intestine)	-	KIF26B	uc001ibg.1,p.R22W|uc010pyq.1,p.R404W|ENST00000366518,p.R23W|ENST00000407071,p.R404W|uc001ibf.1,p.R404W|NM_018012,p.R404W	retained_intron, protein_coding, processed_transcript	uc010pyq.1	nonsynonymous SNV	exon5	c.C1210T	p.R404W	QKLNLSSKKKKHRPSTSSAAEPPLF	QKLNLSSKKKKHWPSTSSAAEPPLF	7.0	3.0	unscreened	-	3881_1:245704112-245704112 C>T_QKLNLSSKKKKHWPSTSSAAEPPLF
13:58240614-58240614 C>T	1.0	3881	MELANOMA	-	-	ID=COSM1706817;OCCURENCE=1(skin)	-	PCDH17	ENST00000484979,p.P860S|uc010aec.1,p.P860S|ENST00000377918,p.P860S|uc001vhq.1,p.P860S|NM_001040429,p.P860S	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon2	c.C2578T	p.P860S	ATRMSIIQTDNFPAEPNYMGSRQQF	ATRMSIIQTDNFSAEPNYMGSRQQF	5.0	8.0	unscreened	-	3881_13:58240614-58240614 C>T_ATRMSIIQTDNFSAEPNYMGSRQQF
13:76395465-76395465 C>T	1.0	3881	MELANOMA	-	-	-	-	LMO7	ENST00000341547,p.P505L|NM_015842,p.P554L|ENST00000465261,p.P554L|uc001vjw.1,p.P460L|ENST00000377499,p.P453L|uc001vjt.1,p.P453L|ENST00000321797,p.P554L|ENST00000357063,p.P839L|uc001vjv.3,p.P554L|uc021rkq.1,p.P787L|ENST00000526202,p.P404L|uc010thv.2,p.P505L|NM_005358,p.P505L|ENST00000377534,p.P839L|uc010thw.2,p.P404L	retained_intron, protein_coding, processed_transcript	uc021rkq.1	nonsynonymous SNV	exon14	c.C2360T	p.P787L	QSERVEEKGATYPSEIPKEDSTTFA	QSERVEEKGATYLSEIPKEDSTTFA	8.0	8.0	-	-	3881_13:76395465-76395465 C>T_QSERVEEKGATYLSEIPKEDSTTFA
19:49671896-49671896 C>T	0.0	3881	MELANOMA	-	-	-	-	TRPM4	ENST00000598697,p.S60F|ENST00000598502,p.S173F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000598697	nonsynonymous SNV	exon3	c.C179T	p.S60F	SSFPWTTTTRPSSWWTTAHTAAWGA	SSFPWTTTTRPSFWWTTAHTAAWGA	5.0	8.0	unscreened	-	3881_19:49671896-49671896 C>T_SSFPWTTTTRPSFWWTTAHTAAWGA
5:154268895-154268895 G>A	1.0	3881	MELANOMA	-	-	-	-	GEMIN5	NM_001252156,p.P1448S|uc011ddk.1,p.P1448S|uc003lvx.3,p.P1449S|NM_015465,p.P1449S|ENST00000285873,p.P1449S	retained_intron, protein_coding	uc011ddk.1	nonsynonymous SNV	exon27	c.C4342T	p.P1448S	RLTEANQRMAKFPESIKAWPFPDVL	RLTEANQRMAKFSESIKAWPFPDVL	7.0	1.0	unscreened	-	3881_5:154268895-154268895 G>A_RLTEANQRMAKFSESIKAWPFPDVL
10:52103403-52103403 C>T	1.0	3881	MELANOMA	-	-	-	-	SGMS1	ENST00000361543,p.E158K|ENST00000361781,p.E158K|uc001jje.3,p.E158K|NM_147156,p.E158K|uc021pqq.1,p.E158K|uc009xou.1,p.E158K|uc021pqo.1,p.E158K	protein_coding, processed_transcript	uc021pqq.1	nonsynonymous SNV	exon2	c.G472A	p.E158K	FVLTTVMISVVHERVPPKEVQPPLP	FVLTTVMISVVHKRVPPKEVQPPLP	7.0	10.0	-	-	3881_10:52103403-52103403 C>T_FVLTTVMISVVHKRVPPKEVQPPLP
14:61180337-61180337 G>A	0.0	3881	MELANOMA	-	-	-	-	SIX4	ENST00000216513,p.R712C|uc001xfc.3,p.R712C|NM_017420,p.R712C	protein_coding	uc001xfc.3	nonsynonymous SNV	exon3	c.C2134T	p.R712C	SPAVHQDFVQEHRLVLQSVANMKEN	SPAVHQDFVQEHCLVLQSVANMKEN	6.0	1.0	unscreened	-	3881_14:61180337-61180337 G>A_SPAVHQDFVQEHCLVLQSVANMKEN
3:56766298-56766298 G>A	1.0	3881	MELANOMA	-	-	-	-	ARHGEF3	ENST00000495373,p.S399F|uc003dii.2,p.S399F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003dii.2	nonsynonymous SNV	exon9	c.C1196T	p.S399F	EDLQDGEVRLGGSLRGAFSNNERSM	EDLQDGEVRLGGFLRGAFSNNERSM	7.0	9.0	-	-	3881_3:56766298-56766298 G>A_EDLQDGEVRLGGFLRGAFSNNERSM
4:55972070-55972070 G>A	0.0	3881	MELANOMA	-	-	-	1	KDR	uc003has.3,p.S525L|uc011bzx.2,p.S525L|uc003hat.1,p.S525L|NM_002253,p.S525L|ENST00000263923,p.S525L	retained_intron, protein_coding	uc011bzx.2	nonsynonymous SNV	exon12	c.C1574T	p.S525L	TVSTLVIQAANVSALYKCEAVNKVG	TVSTLVIQAANVLALYKCEAVNKVG	5.0	2.0	unscreened	-	3881_4:55972070-55972070 G>A_TVSTLVIQAANVLALYKCEAVNKVG
11:7111399-7111399 C>T	0.0	3881	MELANOMA	-	-	-	-	RBMXL2	uc001mfc.2,p.L350F|NM_014469,p.L350F|ENST00000306904,p.L350F	protein_coding	uc001mfc.2	nonsynonymous SNV	exon1	c.C1048T	p.L350F	RGRHRVGRPDRGLSLSMERGCPPQR	RGRHRVGRPDRGFSLSMERGCPPQR	1.0	5.0	unscreened	-	3881_11:7111399-7111399 C>T_RGRHRVGRPDRGFSLSMERGCPPQR
X:154157902-154157902 G>A	1.0	3881	MELANOMA	-	-	-	-	F8	NM_000132,p.P1388L|uc004fmt.3,p.P1388L|ENST00000360256,p.P1388L	protein_coding, processed_transcript	uc004fmt.3	nonsynonymous SNV	exon14	c.C4163T	p.P1388L	YNEKEKGAITQSPLSDCLTRSHSIP	YNEKEKGAITQSLLSDCLTRSHSIP	5.0	8.0	unscreened	-	3881_X:154157902-154157902 G>A_YNEKEKGAITQSLLSDCLTRSHSIP
11:5462267-5462267 G>A	0.0	3881	MELANOMA	-	-	-	-	OR51I1	uc010qze.2,p.P160S|NM_001005288,p.P160S|ENST00000380211,p.P160S	protein_coding	uc010qze.2	nonsynonymous SNV	exon1	c.C478T	p.P160S	LGILTKSFTTLFPFPFVVKRLPFCK	LGILTKSFTTLFSFPFVVKRLPFCK	1.0	7.0	unscreened	-	3881_11:5462267-5462267 G>A_LGILTKSFTTLFSFPFVVKRLPFCK
12:72893311-72893311 G>A	0.0	3881	MELANOMA	-	-	-	-	TRHDE	uc001sxa.3,p.E495K|ENST00000261180,p.E495K|NM_013381,p.E495K	retained_intron, protein_coding, processed_transcript	uc001sxa.3	nonsynonymous SNV	exon6	c.G1483A	p.E495K	MEKQRFLTDVLHEVMLLDGLASSHP	MEKQRFLTDVLHKVMLLDGLASSHP	1.0	5.0	unscreened	-	3881_12:72893311-72893311 G>A_MEKQRFLTDVLHKVMLLDGLASSHP
3:64084935-64084935 G>A	1.0	3881	MELANOMA	-	-	-	-	PRICKLE2	ENST00000564377,p.S832F|uc003dmf.3,p.S776F|ENST00000295902,p.S776F|NM_198859,p.S776F	protein_coding	uc003dmf.3	nonsynonymous SNV	exon8	c.C2327T	p.S776F	RWGPYFAEYDWCSTCSSSSESDNEG	RWGPYFAEYDWCFTCSSSSESDNEG	5.0	2.0	unscreened	-	3881_3:64084935-64084935 G>A_RWGPYFAEYDWCFTCSSSSESDNEG
2:86374839-86374839 A>G	1.0	3881	MELANOMA	-	-	-	-	IMMT	ENST00000449247,p.S496P|uc002sqy.4,p.S248P|uc002sra.4,p.S506P|uc010ytd.2,p.S495P|uc002sqz.4,p.S507P|ENST00000409051,p.S460P|ENST00000442664,p.S506P|ENST00000254636,p.S408P|uc002src.1,p.S243P|NM_001100170,p.S496P|NM_006839,p.S507P|ENST00000410111,p.S507P|uc010yte.2,p.S460P|uc002srb.4,p.S496P|NM_001100169,p.S506P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yte.2	nonsynonymous SNV	exon12	c.T1378C	p.S460P	RDVLRVQEQELKSEFEQNLSEKLSE	RDVLRVQEQELKPEFEQNLSEKLSE	9.0	8.0	unscreened	-	3881_2:86374839-86374839 A>G_RDVLRVQEQELKPEFEQNLSEKLSE
11:12534881-12534881 C>T	1.0	3881	MELANOMA	-	-	-	-	PARVA	NM_018222,p.P298S|ENST00000334956,p.P298S|uc001mki.4,p.P298S|ENST00000550549,p.P258S	retained_intron, protein_coding, processed_transcript	uc001mki.4	nonsynonymous SNV	exon9	c.C892T	p.P298S	ERDAFDTLFDHAPDKLNVVKKTLIT	ERDAFDTLFDHASDKLNVVKKTLIT	9.0	4.0	unscreened	-	3881_11:12534881-12534881 C>T_ERDAFDTLFDHASDKLNVVKKTLIT
11:12534881-12534881 C>T	1.0	3881	MELANOMA	-	-	-	-	PARVA	ENST00000539723,p.P258S	retained_intron, protein_coding, processed_transcript	ENST00000539723	nonsynonymous SNV	exon9	c.C772T	p.P258S	KRDAFDTLFDHAPDKLNVVKKTLIT	KRDAFDTLFDHASDKLNVVKKTLIT	9.0	4.0	unscreened	-	3881_11:12534881-12534881 C>T_KRDAFDTLFDHASDKLNVVKKTLIT
2:231379853-231379853 C>T	1.0	3881	MELANOMA	-	-	-	-	SP100	ENST00000264052,p.S713L|uc002vqt.3,p.S713L|NM_003113,p.S713L	retained_intron, protein_coding	uc002vqt.3	nonsynonymous SNV	exon25	c.C2138T	p.S713L	HKKKNPDASVKFSEFLKKCSETWKT	HKKKNPDASVKFLEFLKKCSETWKT	10.0	6.0	unscreened	-	3881_2:231379853-231379853 C>T_HKKKNPDASVKFLEFLKKCSETWKT
18:32462082-32462082 G>A	1.0	3881	MELANOMA	-	-	-	-	DTNA	NM_032980,p.E359K|uc002kxy.2,p.E651K|uc010dmn.1,p.E711K|NM_001390,p.E711K|ENST00000444659,p.E711K|ENST00000598334,p.E651K|NM_001198943,p.E401K|ENST00000598142,p.E654K|ENST00000595022,p.E651K|uc010dmj.3,p.E651K|NM_001198942,p.E420K|ENST00000283365,p.E654K|ENST00000591182,p.E359K|ENST00000269192,p.E420K|NM_001198944,p.E363K|NM_032975,p.E654K|uc010xbz.2,p.E420K|ENST00000601125,p.E333K|uc002kxw.2,p.E654K|uc002kxz.2,p.E658K|ENST00000399097,p.E359K|NM_001198938,p.E651K|uc002kye.3,p.E359K|ENST00000556414,p.E363K|uc010xca.2,p.E363K|ENST00000269190,p.E712K|ENST00000399121,p.E658K|NM_001198940,p.E651K|NM_001198939,p.E658K|ENST00000399113,p.E711K|ENST00000590831,p.E137K|uc010xby.1,p.E401K	protein_coding, processed_transcript	uc010xca.2	nonsynonymous SNV	exon12	c.G1087A	p.E363K	ADPYVQPEDENYENDSVRQLENELQ	ADPYVQPEDENYKNDSVRQLENELQ	7.0	7.0	unscreened	-	3881_18:32462082-32462082 G>A_ADPYVQPEDENYKNDSVRQLENELQ
5:140480690-140480690 C>T	1.0	3881	MELANOMA	-	-	-	-	PCDHB3	ENST00000231130,p.P153S|uc003lio.3,p.P153S|NM_018937,p.P153S	protein_coding	uc003lio.3	nonsynonymous SNV	exon1	c.C457T	p.P153S	KILESTLPGTVIPLGNAEDLDVGRN	KILESTLPGTVISLGNAEDLDVGRN	7.0	3.0	unscreened	-	3881_5:140480690-140480690 C>T_KILESTLPGTVISLGNAEDLDVGRN
5:137910947-137910947 G>A	1.0	3881	MELANOMA	-	-	-	-	HSPA9	ENST00000507115,p.P21S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000507115	nonsynonymous SNV	exon1	c.C61T	p.P21S	AARLVGAAASRGPTAARHQDTHWLV	AARLVGAAASRGSTAARHQDTHWLV	10.0	7.0	unscreened	-	3881_5:137910947-137910947 G>A_AARLVGAAASRGSTAARHQDTHWLV
19:1048926-1048926 C>T	0.0	3881	MELANOMA	-	-	-	-	ABCA7	NM_019112,p.P768S|uc010dsb.1,p.P630S|ENST00000435683,p.P630S|ENST00000433129,p.P768S|uc002lqw.4,p.P768S|ENST00000263094,p.P768S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dsb.1	nonsynonymous SNV	exon11	c.C1888T	p.P630S	PGQYGIPEPWNFPFRRSYWCGPRPP	PGQYGIPEPWNFSFRRSYWCGPRPP	7.0	1.0	unscreened	-	3881_19:1048926-1048926 C>T_PGQYGIPEPWNFSFRRSYWCGPRPP
6:160663389-160663389 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC22A2	NM_003058,p.G442E|ENST00000366953,p.G442E|uc003qtf.3,p.G442E	protein_coding, processed_transcript	uc003qtf.3	nonsynonymous SNV	exon8	c.G1325A	p.G442E	WLKIIISCLGRMGITMAYEIVCLVN	WLKIIISCLGRMEITMAYEIVCLVN	1.0	10.0	unscreened	-	3881_6:160663389-160663389 C>T_WLKIIISCLGRMEITMAYEIVCLVN
1:8420014-8420014 G>A	1.0	3881	MELANOMA	-	-	-	-	RERE	NM_001042682,p.S589L|ENST00000476556,p.S589L|ENST00000337907,p.S1143L|ENST00000400908,p.S1143L|ENST00000377464,p.S875L|uc001ape.3,p.S1143L|NM_001042681,p.S1143L|NM_012102,p.S1143L|uc001apf.3,p.S1143L|uc001apd.3,p.S589L	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc001apf.3	nonsynonymous SNV	exon19	c.C3428T	p.S1143L	ARFYKHLDRGYNSCARTDLYFMPLA	ARFYKHLDRGYNLCARTDLYFMPLA	10.0	2.0	unscreened	-	3881_1:8420014-8420014 G>A_ARFYKHLDRGYNLCARTDLYFMPLA
2:95847019-95847019 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF2	uc002sug.3,p.S107F|NM_001017396,p.S107F|uc002suf.3,p.S149F|NM_021088,p.S149F|NM_001291604,p.S69F|NM_001282398,p.S111F|NM_001291605,p.S162F	protein_coding	uc002sug.3	nonsynonymous SNV	exon4	c.C320T	p.S107F	EKQSPSGETRKKSLSRDKGLRRRSA	EKQSPSGETRKKFLSRDKGLRRRSA	5.0	9.0	-	-	3881_2:95847019-95847019 C>T_EKQSPSGETRKKFLSRDKGLRRRSA
19:16006372-16006372 G>T	0.0	3881	MELANOMA	-	-	-	-	CYP4F2	ENST00000221700,p.S96Y|NM_001082,p.S96Y|uc002nbs.1,p.S96Y|ENST00000586927,p.S96Y	retained_intron, protein_coding, nonsense_mediated_decay	uc002nbs.1	nonsynonymous SNV	exon3	c.C287A	p.S96Y	YPQGFKVWMGPISPLLSLCHPDIIR	YPQGFKVWMGPIYPLLSLCHPDIIR	1.0	8.0	unscreened	-	3881_19:16006372-16006372 G>T_YPQGFKVWMGPIYPLLSLCHPDIIR
15:78786536-78786536 T>A	1.0	3881	MELANOMA	-	-	-	-	IREB2	ENST00000258886,p.I842N|uc002bdr.2,p.I842N|NM_004136,p.I842N|uc010unb.1,p.I592N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010unb.1	nonsynonymous SNV	exon19	c.T1775A	p.I592N	AAELYQKEGIPLIILAGKKYGSGNS	AAELYQKEGIPLNILAGKKYGSGNS	9.0	8.0	-	-	3881_15:78786536-78786536 T>A_AAELYQKEGIPLNILAGKKYGSGNS
2:95847019-95847019 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF2	ENST00000340539,p.S149F|ENST00000398107,p.S107F|uc010yue.2,p.S111F|ENST00000425369,p.S69F|uc010fhs.3,p.S69F|ENST00000295210,p.S111F|ENST00000453539,p.S162F	protein_coding	uc010yue.2	nonsynonymous SNV	exon4	c.C332T	p.S111F	EKQSPSGETRKKSLSRDKGLRRRRS	EKQSPSGETRKKFLSRDKGLRRRRS	5.0	9.0	unscreened	-	3881_2:95847019-95847019 C>T_EKQSPSGETRKKFLSRDKGLRRRRS
8:95658424-95658424 C>T	0.0	3881	MELANOMA	-	-	-	-	ESRP1	uc003ygs.4,p.S135F|NM_017697,p.S135F|ENST00000358397,p.S135F|uc003ygu.4,p.S135F|ENST00000454170,p.S135F|uc003ygr.4,p.S135F|ENST00000433389,p.S135F|NM_001122826,p.S135F|uc003ygq.4,p.S135F|NM_001122827,p.S135F|ENST00000423620,p.S135F|NM_001034915,p.S135F|NM_001122825,p.S135F|uc003ygt.4,p.S135F	retained_intron, protein_coding, processed_transcript	uc003ygu.4	nonsynonymous SNV	exon4	c.C404T	p.S135F	SKKNVLLPECFYSFFDLRKEFKKCC	SKKNVLLPECFYFFFDLRKEFKKCC	6.0	7.0	unscreened	-	3881_8:95658424-95658424 C>T_SKKNVLLPECFYFFFDLRKEFKKCC
X:79938091-79938091 C>T	0.0	3881	MELANOMA	-	-	-	-	BRWD3	uc004eea.3,p.E1094K|uc004edx.3,p.E1020K|uc004edz.3,p.E1094K|uc004edo.3,p.E1020K|uc004edv.3,p.E1020K|uc004edw.3,p.E1020K|uc004edu.3,p.E1094K|uc004edp.3,p.E1253K|NM_153252,p.E1424K|uc004eeb.3,p.E1020K|uc004edr.3,p.E1094K|uc004edq.3,p.E1020K|uc004edy.3,p.E1020K|ENST00000373275,p.E1424K|uc010nmj.2,p.E1020K|uc004eds.3,p.E1020K|uc004edt.3,p.E1424K	protein_coding, processed_transcript	uc010nmj.2	nonsynonymous SNV	exon33	c.G3058A	p.E1020K	IYSMMLRLSALFESHIKNIISEYKS	IYSMMLRLSALFKSHIKNIISEYKS	8.0	5.0	unscreened	-	3881_X:79938091-79938091 C>T_IYSMMLRLSALFKSHIKNIISEYKS
X:154299923-154299923 G>A	1.0	3881	MELANOMA	-	-	-	-	BRCC3	ENST00000399042,p.E41K	protein_coding, nonsense_mediated_decay	ENST00000399042	nonsynonymous SNV	exon1	c.G121A	p.E41K	TEKEEVMGLCIGEVSSPSRSDSKFA	TEKEEVMGLCIGKVSSPSRSDSKFA	8.0	6.0	unscreened	-	3881_X:154299923-154299923 G>A_TEKEEVMGLCIGKVSSPSRSDSKFA
12:7982594-7982594 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC2A14	NM_001286234,p.S94L|ENST00000546234,p.S94L|uc001qtm.3,p.S94L|ENST00000537557,p.S117L|ENST00000542782,p.S94L|NM_001286237,p.S132L|uc010sgh.2,p.S132L|NM_001286233,p.S117L|NM_001286235,p.S94L|ENST00000431042,p.S94L|ENST00000340749,p.S94L|ENST00000396589,p.S117L|uc001qtk.3,p.S117L|uc001qtl.3,p.S94L|NM_153449,p.S117L|ENST00000543909,p.S117L|ENST00000535344,p.S94L|uc001qtn.3,p.S117L|ENST00000539924,p.S132L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgh.2	nonsynonymous SNV	exon4	c.C395T	p.S132L	VGLFVNRFGRRNSMLIVNLLAATGG	VGLFVNRFGRRNLMLIVNLLAATGG	5.0	8.0	unscreened	-	3881_12:7982594-7982594 G>A_VGLFVNRFGRRNLMLIVNLLAATGG
11:123810519-123810519 C>T	0.0	3881	MELANOMA	-	-	-	-	OR4D5	NM_001001965,p.L66F|uc001pzk.1,p.L66F|ENST00000307033,p.L66F	protein_coding	uc001pzk.1	nonsynonymous SNV	exon1	c.C196T	p.L66F	HLHTTMYFLLGNLSFLDFCYSSITA	HLHTTMYFLLGNFSFLDFCYSSITA	1.0	5.0	unscreened	-	3881_11:123810519-123810519 C>T_HLHTTMYFLLGNFSFLDFCYSSITA
5:140740546-140740546 C>T	1.0	3881	MELANOMA	-	-	-	-	PCDHGB2	uc003ljs.2,p.H282Y|NM_018923,p.H282Y|uc011dar.2,p.H282Y|NM_032096,p.H282Y|ENST00000522605,p.H282Y	protein_coding	uc011dar.2	nonsynonymous SNV	exon1	c.C844T	p.H282Y	DEGINAEITYSFHNVDEQVKHFFNL	DEGINAEITYSFYNVDEQVKHFFNL	6.0	9.0	-	-	3881_5:140740546-140740546 C>T_DEGINAEITYSFYNVDEQVKHFFNL
2:164467471-164467471 G>A	1.0	3881	MELANOMA	-	-	-	-	FIGN	ENST00000333129,p.P291S|NM_018086,p.P291S|uc002uck.1,p.P291S	protein_coding, processed_transcript	uc002uck.1	nonsynonymous SNV	exon3	c.C871T	p.P291S	IPAPTPLPPTTVPGYTYQGHGLTPI	IPAPTPLPPTTVSGYTYQGHGLTPI	7.0	6.0	unscreened	-	3881_2:164467471-164467471 G>A_IPAPTPLPPTTVSGYTYQGHGLTPI
22:31302244-31302244 G>A	1.0	3881	MELANOMA	-	-	-	-	OSBP2	NM_001282739,p.G889E|NM_001282738,p.G724E|ENST00000407373,p.G717E|ENST00000437268,p.G633E|uc003aiz.1,p.G889E|ENST00000446658,p.G889E|uc011alc.2,p.G633E|NM_030758,p.G890E|NM_001282740,p.G523E|ENST00000332585,p.G890E|uc011ala.1,p.G724E|uc010gwc.1,p.G717E|uc003aja.1,p.G523E|uc011ald.1,p.G434E|uc003aiy.1,p.G890E|NM_001282742,p.G434E|NM_001282741,p.G633E|ENST00000403222,p.G724E|ENST00000401475,p.G523E|ENST00000535268,p.G434E	protein_coding, processed_transcript	uc011ald.1	nonsynonymous SNV	exon12	c.G1301A	p.G434E	PLWFEKRLDPLTGEMACVYKGGYWE	PLWFEKRLDPLTEEMACVYKGGYWE	4.0	6.0	unscreened	-	3881_22:31302244-31302244 G>A_PLWFEKRLDPLTEEMACVYKGGYWE
7:97860292-97860292 G>A	1.0	3881	MELANOMA	-	-	-	-	TECPR1	ENST00000379795,p.P756S|NM_015395,p.P755S|uc003upg.4,p.P755S|ENST00000447648,p.P755S|ENST00000542604,p.P685S|uc003uph.2,p.P685S	retained_intron, protein_coding, processed_transcript	uc003uph.2	nonsynonymous SNV	exon14	c.C2053T	p.P685S	SEPSPDLEAHEHPLPCDQMFWRQMG	SEPSPDLEAHEHSLPCDQMFWRQMG	8.0	7.0	unscreened	-	3881_7:97860292-97860292 G>A_SEPSPDLEAHEHSLPCDQMFWRQMG
2:172379203-172379203 C>A	0.0	3881	MELANOMA	-	-	-	-	CYBRD1	ENST00000321348,p.H50N|uc002ugz.4,p.H50N|NM_001127383,p.H50N|NM_024843,p.H50N|uc002ugy.4,p.H50N|ENST00000375252,p.H50N	protein_coding, processed_transcript	uc002ugz.4	nonsynonymous SNV	exon1	c.C148A	p.H50N	LGWDGSALEFNWHPVLMVTGFVFIQ	LGWDGSALEFNWNPVLMVTGFVFIQ	7.0	1.0	unscreened	-	3881_2:172379203-172379203 C>A_LGWDGSALEFNWNPVLMVTGFVFIQ
7:5780645-5780645 C>T	1.0	3881	MELANOMA	-	-	-	-	RNF216	NM_207111,p.E335K|NM_207116,p.E278K|ENST00000425013,p.E278K|ENST00000389902,p.E335K|ENST00000389900,p.E278K|uc003soy.2,p.E278K|uc003sox.2,p.E335K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003soy.2	nonsynonymous SNV	exon4	c.G832A	p.E278K	PNLENIWGQEAAEVDQELVELLVKE	PNLENIWGQEAAKVDQELVELLVKE	8.0	5.0	unscreened	-	3881_7:5780645-5780645 C>T_PNLENIWGQEAAKVDQELVELLVKE
X:135730453-135730453 G>A	0.0	3881	MELANOMA	-	-	-	-	CD40LG	ENST00000370629,p.G16R|uc010nsd.3,p.G16R|NM_000074,p.G16R|uc004faa.3,p.G16R|ENST00000370628,p.G16R	protein_coding	uc010nsd.3	nonsynonymous SNV	exon1	c.G46A	p.G16R	TYNQTSPRSAATGLPISMKIFMYLL	TYNQTSPRSAATRLPISMKIFMYLL	3.0	3.0	unscreened	-	3881_X:135730453-135730453 G>A_TYNQTSPRSAATRLPISMKIFMYLL
12:80762063-80762063 G>A	1.0	3881	MELANOMA	-	-	-	-	OTOGL	uc021rba.1,p.E207K|ENST00000546620,p.E207K|ENST00000458043,p.E2188K|ENST00000550182,p.E205K|uc001szd.3,p.E2188K|NM_173591,p.E2188K|ENST00000547103,p.E2176K|uc009zsg.2,p.E68K	protein_coding, nonsense_mediated_decay	uc021rba.1	nonsynonymous SNV	exon8	c.G619A	p.E207K	GTCKNVSCKFHMENGTSVVYAVGST	GTCKNVSCKFHMKNGTSVVYAVGST	5.0	5.0	unscreened	-	3881_12:80762063-80762063 G>A_GTCKNVSCKFHMKNGTSVVYAVGST
12:122395017-122395017 T>C	0.0	3881	MELANOMA	-	-	-	-	WDR66	NM_001178003,p.F525L|ENST00000288912,p.F525L|NM_144668,p.F525L|ENST00000397454,p.F525L|uc009zxk.3,p.F525L|uc021rfh.1,p.F525L	retained_intron, protein_coding, processed_transcript	uc021rfh.1	nonsynonymous SNV	exon11	c.T1573C	p.F525L	YIVTGDIKGNIKFYDHTLSIVNWYS	YIVTGDIKGNIKLYDHTLSIVNWYS	4.0	9.0	unscreened	-	3881_12:122395017-122395017 T>C_YIVTGDIKGNIKLYDHTLSIVNWYS
7:116776233-116776233 G>T	1.0	3881	MELANOMA	-	-	-	-	ST7	uc011knl.2,p.C247F|ENST00000323984,p.C270F|uc003vin.3,p.C270F|ENST00000465133,p.C204F|uc003viq.3,p.C224F|uc003vio.3,p.C247F|ENST00000393447,p.C227F|ENST00000393449,p.C270F|ENST00000432298,p.C224F|ENST00000422922,p.C201F|ENST00000446490,p.C247F|ENST00000490039,p.C218F|ENST00000393451,p.C247F|ENST00000393444,p.C204F|uc011knm.2,p.C227F|ENST00000393443,p.C197F|uc003vix.1,p.C83F|ENST00000393446,p.C247F|ENST00000265437,p.C270F|NM_018412,p.C247F|uc003vir.3,p.C195F|NM_021908,p.C270F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011knm.2	nonsynonymous SNV	exon8	c.G680T	p.C227F	KLFKQALKAGDGCYRRSQQLQHHGS	KLFKQALKAGDGFYRRSQQLQHHGS	8.0	5.0	unscreened	-	3881_7:116776233-116776233 G>T_KLFKQALKAGDGFYRRSQQLQHHGS
17:74287293-74287293 G>A	0.0	3881	MELANOMA	-	-	-	-	QRICH2	ENST00000447564,p.S14L|ENST00000262765,p.S1006L|NM_032134,p.S1006L|uc002jrd.1,p.S1006L	protein_coding, nonsense_mediated_decay	uc002jrd.1	nonsynonymous SNV	exon4	c.C3017T	p.S1006L	SVDRVLSEGSEVSSEVLSERRNSLR	SVDRVLSEGSEVLSEVLSERRNSLR	5.0	4.0	unscreened	-	3881_17:74287293-74287293 G>A_SVDRVLSEGSEVLSEVLSERRNSLR
6:28268520-28268520 C>T	1.0	3881	MELANOMA	-	-	-	-	PGBD1	ENST00000405948,p.P297S|NM_001184743,p.P297S|ENST00000259883,p.P297S|uc003nkz.3,p.P297S|NM_032507,p.P297S|uc003nky.3,p.P297S	protein_coding	uc003nkz.3	nonsynonymous SNV	exon7	c.C889T	p.P297S	SGKPNRECAPQIPCSTPIATERTVA	SGKPNRECAPQISCSTPIATERTVA	6.0	4.0	unscreened	-	3881_6:28268520-28268520 C>T_SGKPNRECAPQISCSTPIATERTVA
17:15234574-15234574 G>A	1.0	3881	MELANOMA	-	-	-	-	TEKT3	ENST00000395930,p.S110F|ENST00000536146,p.S110F|uc002gon.3,p.S110F|NM_031898,p.S110F|ENST00000338696,p.S110F|ENST00000395931,p.S110F|ENST00000539316,p.S110F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gon.3	nonsynonymous SNV	exon3	c.C329T	p.S110F	DWYRSNLTNYQESNTSRHNSEKLRV	DWYRSNLTNYQEFNTSRHNSEKLRV	5.0	5.0	unscreened	-	3881_17:15234574-15234574 G>A_DWYRSNLTNYQEFNTSRHNSEKLRV
1:168013829-168013829 C>T	1.0	3881	MELANOMA	-	-	-	-	DCAF6	ENST00000367840,p.P617L|uc001gex.3,p.P617L|NM_018442,p.P560L|ENST00000367843,p.P560L|ENST00000432587,p.P586L|NM_001198957,p.P586L|NM_001017977,p.P540L|uc001gew.3,p.P540L|uc001gey.3,p.P413L|uc010plk.2,p.P586L|NM_001198956,p.P617L|ENST00000312263,p.P540L|uc001gev.3,p.P560L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010plk.2	nonsynonymous SNV	exon14	c.C1757T	p.P586L	VQPPEGDSETKAPEESSEDVTKYQE	VQPPEGDSETKALEESSEDVTKYQE	8.0	1.0	unscreened	-	3881_1:168013829-168013829 C>T_VQPPEGDSETKALEESSEDVTKYQE
1:158736065-158736065 C>T	0.0	3881	MELANOMA	-	-	-	-	OR6N1	uc010piq.2,p.M136I|ENST00000335094,p.M136I|NM_001005185,p.M136I	protein_coding	uc010piq.2	nonsynonymous SNV	exon1	c.G408A	p.M136I	LAICRPLHYPTLMTPTLCAEIAIGC	LAICRPLHYPTLITPTLCAEIAIGC	1.0	9.0	unscreened	-	3881_1:158736065-158736065 C>T_LAICRPLHYPTLITPTLCAEIAIGC
10:72360486-72360486 G>A	0.0	3881	MELANOMA	-	-	-	1	PRF1	ENST00000441259,p.S58F|NM_001083116,p.S58F|NM_005041,p.S58F|ENST00000373209,p.S58F|uc009xqg.3,p.S58F|uc001jrf.4,p.S58F	protein_coding, processed_transcript	uc009xqg.3	nonsynonymous SNV	exon2	c.C173T	p.S58F	EGVDVTSLRRSGSFPVDTQRFLRPD	EGVDVTSLRRSGFFPVDTQRFLRPD	5.0	9.0	unscreened	-	3881_10:72360486-72360486 G>A_EGVDVTSLRRSGFFPVDTQRFLRPD
10:43655976-43655976 C>T	1.0	3881	MELANOMA	-	-	-	-	CSGALNACT2	ENST00000374464,p.L305F|uc001jam.2,p.L305F|uc001jan.4,p.L305F|NM_018590,p.L305F|ENST00000374466,p.L305F	protein_coding	uc001jan.4	nonsynonymous SNV	exon4	c.C913T	p.L305F	RDVCIHQDKKIHLTVVYFGKEGLSK	RDVCIHQDKKIHFTVVYFGKEGLSK	9.0	9.0	-	-	3881_10:43655976-43655976 C>T_RDVCIHQDKKIHFTVVYFGKEGLSK
7:105660972-105660972 C>T	0.0	3881	MELANOMA	0.0009	-	-	-	CDHR3	NM_001301161,p.R515C|uc011klt.2,p.R515C|ENST00000317716,p.R603C|uc003vdl.4,p.R603C|ENST00000478080,p.R515C|ENST00000542731,p.R603C|uc003vdm.4,p.R590C|NM_152750,p.R603C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011klt.2	nonsynonymous SNV	exon12	c.C1543T	p.R515C	TCTDLDSSPRSFRYSIGPGNVNNHF	TCTDLDSSPRSFCYSIGPGNVNNHF	6.0	7.0	unscreened	-	3881_7:105660972-105660972 C>T_TCTDLDSSPRSFCYSIGPGNVNNHF
5:143539971-143539971 G>A	1.0	3881	MELANOMA	-	-	-	-	YIPF5	ENST00000513112,p.S201F|ENST00000448443,p.S255F|ENST00000274496,p.S255F|NM_001024947,p.S255F|uc010jgl.4,p.S201F|uc003lnl.5,p.S255F|uc003lnk.5,p.S255F|NM_030799,p.S255F|NM_001271732,p.S201F	retained_intron, protein_coding, TEC	uc010jgl.4	nonsynonymous SNV	exon5	c.C602T	p.S201F	PCALLYGVFALISVF	PCALLYGVFALIFVF	10.0	3.0	unscreened	-	3881_5:143539971-143539971 G>A_PCALLYGVFALIFVF
19:18177421-18177421 T>C	0.0	3881	MELANOMA	-	-	-	-	IL12RB1	uc010xqb.1,p.S472G|ENST00000430026,p.S472G|ENST00000600835,p.S472G|NM_005535,p.S472G|NM_001290024,p.S512G|NM_001290023,p.S472G|uc002nhw.1,p.S472G|uc002nhx.1,p.S512G|ENST00000593993,p.S472G	retained_intron, protein_coding	uc010xqb.1	nonsynonymous SNV	exon12	c.A1414G	p.S472G	DSVSVDWAPSLLSTCPGVLKEYVVR	DSVSVDWAPSLLGTCPGVLKEYVVR	6.0	7.0	unscreened	-	3881_19:18177421-18177421 T>C_DSVSVDWAPSLLGTCPGVLKEYVVR
10:124608811-124608811 A>T	0.0	3881	MELANOMA	-	-	-	-	FAM24B	ENST00000368898,p.S79R|NM_152644,p.S79R|NM_001204364,p.S79R|uc021qai.1,p.S79R|ENST00000368896,p.S79R|uc001lgt.3,p.S79R	protein_coding, processed_transcript	uc021qai.1	nonsynonymous SNV	exon4	c.T237A	p.S79R	ALQCCEGYRMCASFDSLPPCCCDIN	ALQCCEGYRMCARFDSLPPCCCDIN	5.0	9.0	unscreened	-	3881_10:124608811-124608811 A>T_ALQCCEGYRMCARFDSLPPCCCDIN
2:67630890-67630890 C>T	1.0	3881	MELANOMA	-	-	-	-	ETAA1	NM_019002,p.S359F|uc002sdz.1,p.S359F|ENST00000272342,p.S359F	protein_coding, processed_transcript	uc002sdz.1	nonsynonymous SNV	exon5	c.C1076T	p.S359F	VDTPIMTKSCVTSCTKEPETSNKYI	VDTPIMTKSCVTFCTKEPETSNKYI	7.0	6.0	unscreened	-	3881_2:67630890-67630890 C>T_VDTPIMTKSCVTFCTKEPETSNKYI
11:45924940-45924940 C>T	1.0	3881	MELANOMA	-	-	ID=COSM1703839;OCCURENCE=1(skin)	-	MAPK8IP1	ENST00000395629,p.S471F|NM_005456,p.S481F|uc001nbr.3,p.S481F|ENST00000241014,p.S481F	retained_intron, protein_coding, processed_transcript	uc001nbr.3	nonsynonymous SNV	exon6	c.C1442T	p.S481F	SRSSSAESFGLFSCIINGEEQEQTH	SRSSSAESFGLFFCIINGEEQEQTH	6.0	4.0	unscreened	-	3881_11:45924940-45924940 C>T_SRSSSAESFGLFFCIINGEEQEQTH
2:136029348-136029348 G>A	1.0	3881	MELANOMA	-	-	-	-	ZRANB3	ENST00000403017,p.A399V|uc002tun.1,p.A339V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tun.1	nonsynonymous SNV	exon8	c.C1016T	p.A339V	DPDTRVAILSIQAAGQDLYDKVAWG	DPDTRVAILSIQVAGQDLYDKVAWG	5.0	2.0	unscreened	-	3881_2:136029348-136029348 G>A_DPDTRVAILSIQVAGQDLYDKVAWG
12:49168295-49168295 G>A	1.0	3881	MELANOMA	-	-	-	-	ADCY6	uc001rsh.4,p.P725S|NM_015270,p.P725S|uc001rsj.4,p.P725S|uc001rsi.4,p.P725S|ENST00000550422,p.P725S|NM_020983,p.P725S|ENST00000357869,p.P725S|ENST00000307885,p.P725S	retained_intron, protein_coding, processed_transcript	uc001rsj.4	nonsynonymous SNV	exon14	c.C2173T	p.P725S	LICAVYSCGSLFPKALQRLSRSIVR	LICAVYSCGSLFSKALQRLSRSIVR	9.0	6.0	unscreened	-	3881_12:49168295-49168295 G>A_LICAVYSCGSLFSKALQRLSRSIVR
12:3921471-3921471 G>A	0.0	3881	MELANOMA	-	-	-	-	PARP11	uc001qmn.2,p.L198F|NM_001286521,p.L198F|uc001qml.2,p.L279F|ENST00000447133,p.L198F|NM_020367,p.L279F|NM_001286522,p.L198F|ENST00000228820,p.L279F|uc001qmk.1,p.L272F|ENST00000427057,p.L198F|uc001qmm.2,p.L198F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001qmn.2	nonsynonymous SNV	exon7	c.C592T	p.L198F	QRHLFRTYKSMFLARVLIGDYINGD	QRHLFRTYKSMFFARVLIGDYINGD	6.0	5.0	unscreened	-	3881_12:3921471-3921471 G>A_QRHLFRTYKSMFFARVLIGDYINGD
22:50277692-50277692 C>T	1.0	3881	MELANOMA	-	-	-	-	ZBED4	ENST00000216268,p.P128S|uc021wrx.1,p.P128S|NM_014838,p.P128S|uc003bix.2,p.P128S	protein_coding	uc021wrx.1	nonsynonymous SNV	exon1	c.C382T	p.P128S	KKSPAWKHFFISPRDSTKAICMYCV	KKSPAWKHFFISSRDSTKAICMYCV	8.0	5.0	unscreened	-	3881_22:50277692-50277692 C>T_KKSPAWKHFFISSRDSTKAICMYCV
22:42607927-42607927 G>A	1.0	3881	MELANOMA	-	-	-	-	TCF20	ENST00000359486,p.L1129F|uc003bck.1,p.L1129F|NM_005650,p.L1129F|NM_181492,p.L1129F|ENST00000335626,p.L1129F|uc003bcj.1,p.L1129F	protein_coding	uc003bck.1	nonsynonymous SNV	exon1	c.C3385T	p.L1129F	EGPRKSPRQQQFLDRVRSPLKNDKD	EGPRKSPRQQQFFDRVRSPLKNDKD	7.0	4.0	unscreened	-	3881_22:42607927-42607927 G>A_EGPRKSPRQQQFFDRVRSPLKNDKD
5:40955621-40955621 C>T	0.0	3881	MELANOMA	-	-	-	-	C7	ENST00000313164,p.S409F|uc003jmh.3,p.S409F|NM_000587,p.S409F	retained_intron, protein_coding, processed_transcript	uc003jmh.3	nonsynonymous SNV	exon10	c.C1226T	p.S409F	AGNKRRYSAWAESVTNLPQVIKQKL	AGNKRRYSAWAEFVTNLPQVIKQKL	2.0	4.0	unscreened	-	3881_5:40955621-40955621 C>T_AGNKRRYSAWAEFVTNLPQVIKQKL
12:58005717-58005717 C>T	0.0	3881	MELANOMA	-	-	-	-	ARHGEF25	uc001spb.4,p.R14C|ENST00000286494,p.R14C|NM_182947,p.R14C	retained_intron, protein_coding, processed_transcript	uc001spb.4	nonsynonymous SNV	exon1	c.C40T	p.R14C	RGGHKGGRCACPRVIRKVLAKCGCC	RGGHKGGRCACPCVIRKVLAKCGCC	5.0	10.0	unscreened	-	3881_12:58005717-58005717 C>T_RGGHKGGRCACPCVIRKVLAKCGCC
9:113252007-113252007 C>T	0.0	3881	MELANOMA	-	-	-	-	SVEP1	uc010mua.1,p.G618E|ENST00000302728,p.G618E|uc010mtz.3,p.G618E|ENST00000374469,p.G595E|uc004beu.2,p.G618E|NM_153366,p.G618E|ENST00000374461,p.G595E|ENST00000401783,p.G618E	protein_coding, processed_transcript	uc010mua.1	nonsynonymous SNV	exon9	c.G1853A	p.G618E	HPAFTPPYLFPIGDVAIVYTATDLS	HPAFTPPYLFPIEDVAIVYTATDLS	2.0	10.0	unscreened	-	3881_9:113252007-113252007 C>T_HPAFTPPYLFPIEDVAIVYTATDLS
19:7529566-7529566 C>T	1.0	3881	MELANOMA	-	-	-	-	ARHGEF18	NM_001130955,p.S777L|ENST00000319670,p.S619L|uc002mgh.3,p.S619L|ENST00000359920,p.S777L|uc002mgj.1,p.S420L|uc010xjm.1,p.S619L|uc002mgi.3,p.S777L|NM_015318,p.S619L	 protein_coding,retained_intron	uc010xjm.1	nonsynonymous SNV	exon15	c.C1856T	p.S619L	LSDSDIPGSSEESPQVVEAPGTESD	LSDSDIPGSSEELPQVVEAPGTESD	7.0	3.0	unscreened	-	3881_19:7529566-7529566 C>T_LSDSDIPGSSEELPQVVEAPGTESD
11:62289510-62289510 G>A	1.0	3881	MELANOMA	-	-	-	-	AHNAK	uc001ntl.3,p.P4127S|NM_001620,p.P4127S|ENST00000378024,p.P4127S	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.C12379T	p.P4127S	PKFKMPDLHLKAPKISMPEVDLNLK	PKFKMPDLHLKASKISMPEVDLNLK	10.0	3.0	unscreened	-	3881_11:62289510-62289510 G>A_PKFKMPDLHLKASKISMPEVDLNLK
9:113228255-113228255 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1103932;OCCURENCE=1(endometrium)	-	SVEP1	ENST00000302728,p.S1071L|ENST00000374469,p.S1048L|NM_153366,p.S1071L|ENST00000401783,p.S1071L|uc010mua.1,p.S1071L|uc010mtz.3,p.S1071L	protein_coding, processed_transcript	uc010mua.1	nonsynonymous SNV	exon18	c.C3212T	p.S1071L	GTYSYSGLETCESCPLGTYQPKFGS	GTYSYSGLETCELCPLGTYQPKFGS	2.0	10.0	unscreened	-	3881_9:113228255-113228255 G>A_GTYSYSGLETCELCPLGTYQPKFGS
5:114473253-114473253 G>C	1.0	3881	MELANOMA	-	-	-	-	TRIM36	ENST00000282369,p.L310V|ENST00000514154,p.L155V|NM_018700,p.L310V|NM_001300752,p.L155V|NM_001300759,p.L298V|uc003kqt.3,p.L155V|uc011cwc.2,p.L298V|ENST00000513154,p.L298V|uc003kqs.3,p.L310V	protein_coding, processed_transcript	uc011cwc.2	nonsynonymous SNV	exon6	c.C892G	p.L298V	EAITHFEKLFEVLEERKSSVLKAID	EAITHFEKLFEVVEERKSSVLKAID	8.0	6.0	unscreened	-	3881_5:114473253-114473253 G>C_EAITHFEKLFEVVEERKSSVLKAID
19:39914648-39914648 G>A	0.0	3881	MELANOMA	-	-	-	-	PLEKHG2	ENST00000409794,p.E959K|ENST00000458508,p.E900K|NM_022835,p.E959K|uc010xuy.2,p.E900K|uc010xva.2,p.E737K|uc010xuz.2,p.E959K|ENST00000425673,p.E930K	retained_intron, protein_coding	uc010xva.2	nonsynonymous SNV	exon15	c.G2209A	p.E737K	VQAPAATPLPKQEGPLHLQVPALTT	VQAPAATPLPKQKGPLHLQVPALTT	6.0	4.0	unscreened	-	3881_19:39914648-39914648 G>A_VQAPAATPLPKQKGPLHLQVPALTT
X:107816864-107816864 C>T	1.0	3881	MELANOMA	-	-	-	-	COL4A5	NM_000495,p.P176S|ENST00000361603,p.P176S|uc004enz.2,p.P176S|uc022ccg.2,p.P176S|ENST00000328300,p.P176S	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon9	c.C526T	p.P176S	SSLPGPKGNPGYPGPPGIQGLPGPT	SSLPGPKGNPGYSGPPGIQGLPGPT	8.0	6.0	unscreened	-	3881_X:107816864-107816864 C>T_SSLPGPKGNPGYSGPPGIQGLPGPT
20:30784839-30784839 G>A	0.0	3881	MELANOMA	-	-	-	-	PLAGL2	ENST00000246229,p.P303S|NM_002657,p.P303S|uc002wxn.2,p.P303S	protein_coding	uc002wxn.2	nonsynonymous SNV	exon3	c.C907T	p.P303S	GMLPMGMYGAHIPTMPSTGVPHSLV	GMLPMGMYGAHISTMPSTGVPHSLV	6.0	3.0	unscreened	-	3881_20:30784839-30784839 G>A_GMLPMGMYGAHISTMPSTGVPHSLV
5:1232348-1232348 C>G	0.0	3881	MELANOMA	-	-	-	-	SLC6A18	NM_182632,p.P59A|uc003jby.2,p.P59A|ENST00000296821,p.P59A|ENST00000324642,p.P59A	retained_intron, protein_coding	uc003jby.2	nonsynonymous SNV	exon2	c.C175G	p.P59A	LCQTYGGGAFLIPYVIALVFEGIPI	LCQTYGGGAFLIAYVIALVFEGIPI	1.0	1.0	unscreened	-	3881_5:1232348-1232348 C>G_LCQTYGGGAFLIAYVIALVFEGIPI
6:158485754-158485754 G>A	1.0	3881	MELANOMA	-	-	-	-	SYNJ2	uc010kjo.1,p.G393D|uc003qqy.2,p.G207D|ENST00000367122,p.G444D|uc003qqz.2,p.G61D|ENST00000449859,p.G372D|ENST00000367121,p.G444D|uc003qqx.2,p.G444D|NM_001178088,p.G207D|uc003qqw.2,p.G444D|uc011efn.1,p.G372D|ENST00000355585,p.G444D|NM_003898,p.G444D	protein_coding, nonsense_mediated_decay	uc011efn.1	nonsynonymous SNV	exon9	c.G1115A	p.G372D	SLNGHSLSKVFTGSRALEGKAKVGK	SLNGHSLSKVFTDSRALEGKAKVGK	5.0	10.0	unscreened	-	3881_6:158485754-158485754 G>A_SLNGHSLSKVFTDSRALEGKAKVGK
19:44933181-44933181 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF229	uc010ejl.1,p.R586K|NM_001278510,p.R586K|uc002oze.1,p.R592K|ENST00000291187,p.R586K|uc010ejk.1,p.R246K|NM_014518,p.R592K|ENST00000588931,p.R592K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ejl.1	nonsynonymous SNV	exon6	c.G1757A	p.R586K	GFRRNSDLHSHQRVHTGERPYVCDV	GFRRNSDLHSHQKVHTGERPYVCDV	6.0	7.0	unscreened	-	3881_19:44933181-44933181 C>T_GFRRNSDLHSHQKVHTGERPYVCDV
3:38739294-38739294 G>A	0.0	3881	MELANOMA	-	-	-	-	SCN10A	uc003ciq.3,p.A1806V|NM_001293307,p.A1708V|NM_001293306,p.A1805V|NM_006514,p.A1806V|ENST00000449082,p.A1806V	protein_coding	uc003ciq.3	nonsynonymous SNV	exon27	c.C5417T	p.A1806V	PGDKIHCLDILFAFTKNVLGESGEL	PGDKIHCLDILFVFTKNVLGESGEL	1.0	1.0	unscreened	-	3881_3:38739294-38739294 G>A_PGDKIHCLDILFVFTKNVLGESGEL
15:68603358-68603358 C>T	0.0	3881	MELANOMA	-	-	-	-	ITGA11	NM_001004439,p.E1050K|uc002ari.3,p.E1050K|ENST00000423218,p.E1051K|uc010bib.3,p.E1051K|ENST00000315757,p.E1050K	retained_intron, protein_coding, processed_transcript	uc010bib.3	nonsynonymous SNV	exon26	c.G3151A	p.E1051K	GNSTEYRPTPVEEDLRRAPQLNHSN	GNSTEYRPTPVEKDLRRAPQLNHSN	6.0	10.0	unscreened	-	3881_15:68603358-68603358 C>T_GNSTEYRPTPVEKDLRRAPQLNHSN
11:5529398-5529398 G>A	0.0	3881	MELANOMA	-	-	-	-	UBQLN3	uc021qcw.1,p.P464L|NM_017481,p.P464L|ENST00000311659,p.P464L|uc001may.1,p.P464L	protein_coding	uc021qcw.1	nonsynonymous SNV	exon1	c.C1391T	p.P464L	ANRVPFAPLSFSPTAAIPGIPEPPW	ANRVPFAPLSFSLTAAIPGIPEPPW	1.0	8.0	unscreened	-	3881_11:5529398-5529398 G>A_ANRVPFAPLSFSLTAAIPGIPEPPW
10:104176551-104176551 G>A	0.0	3881	MELANOMA	-	-	-	-	PSD	uc009xxd.2,p.P82L|ENST00000406432,p.P82L|NM_002779,p.P82L|uc001kvg.2,p.P82L|ENST00000020673,p.P82L|uc001kvi.2,p.P82L|NM_001270965,p.P82L	protein_coding, processed_transcript	uc009xxd.2	nonsynonymous SNV	exon3	c.C245T	p.P82L	LRGPPSPRVAPSPWAPSSPTGQPPP	LRGPPSPRVAPSLWAPSSPTGQPPP	4.0	2.0	unscreened	-	3881_10:104176551-104176551 G>A_LRGPPSPRVAPSLWAPSSPTGQPPP
2:160755315-160755315 C>A	0.0	3881	MELANOMA	-	-	-	-	LY75,LY75-CD302	NM_002349,p.G117V|uc002ubc.4,p.G117V|ENST00000504764,p.G117V|uc010fot.2,p.G117V|uc010fos.3,p.G117V|ENST00000505052,p.G117V|uc002ubb.4,p.G117V|NM_001198760,p.G117V|ENST00000554112,p.G117V|ENST00000263636,p.G117V|ENST00000553424,p.G117V|NM_001198759,p.G117V	retained_intron, protein_coding, processed_transcript	uc010fot.2	nonsynonymous SNV	exon2	c.G350T	p.G117V	MLWWKCEHHSLYGAARYRLALKDGH	MLWWKCEHHSLYVAARYRLALKDGH	5.0	4.0	unscreened	-	3881_2:160755315-160755315 C>A_MLWWKCEHHSLYVAARYRLALKDGH
2:162751198-162751198 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC4A10	NM_001178015,p.D402N|uc010fpa.1,p.D414N|ENST00000446997,p.D402N|uc002ubx.4,p.D402N|uc010zcs.2,p.D383N|ENST00000272716,p.D372N|ENST00000415876,p.D372N|ENST00000421911,p.D402N|ENST00000375514,p.D383N|uc002uby.4,p.D372N|NM_001178016,p.D383N|NM_022058,p.D372N|ENST00000446228,p.D372N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zcs.2	nonsynonymous SNV	exon11	c.G1147A	p.D383N	SIATLMTDEVFHDVAYKAKDRNDLV	SIATLMTDEVFHNVAYKAKDRNDLV	1.0	2.0	unscreened	-	3881_2:162751198-162751198 G>A_SIATLMTDEVFHNVAYKAKDRNDLV
8:87241983-87241983 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC7A13	NM_138817,p.S175F|uc003ydq.1,p.S175F|ENST00000419776,p.S175F|uc003ydr.1,p.S175F|ENST00000297524,p.S175F	protein_coding, processed_transcript	uc003ydr.1	nonsynonymous SNV	exon1	c.C524T	p.S175F	SSVLKVSILSFISLTGVVFLIRGKK	SSVLKVSILSFIFLTGVVFLIRGKK	1.0	9.0	unscreened	-	3881_8:87241983-87241983 G>A_SSVLKVSILSFIFLTGVVFLIRGKK
7:154862779-154862779 G>T	0.0	3881	MELANOMA	-	-	ID=COSM452764;OCCURENCE=1(breast)	-	HTR5A	ENST00000287907,p.W57L|NM_024012,p.W57L|uc003wlu.2,p.W57L	protein_coding, processed_transcript	uc003wlu.2	nonsynonymous SNV	exon1	c.G170T	p.W57L	TLLGFLVAATFAWNLLVLATILRVR	TLLGFLVAATFALNLLVLATILRVR	1.0	6.0	unscreened	-	3881_7:154862779-154862779 G>T_TLLGFLVAATFALNLLVLATILRVR
17:42882769-42882769 C>T	1.0	3881	MELANOMA	-	-	-	-	GJC1	ENST00000426548,p.M139I|ENST00000590758,p.M139I|uc002ihk.3,p.M139I|ENST00000592524,p.M139I|uc002ihl.3,p.M139I|uc002ihj.3,p.M139I|NM_005497,p.M139I|NM_001080383,p.M139I|ENST00000330514,p.M139I|uc021tyf.1,p.M139I	protein_coding	uc021tyf.1	nonsynonymous SNV	exon1	c.G417A	p.M139I	LEETEEDNEEDPMMYPEMELESDKE	LEETEEDNEEDPIMYPEMELESDKE	8.0	4.0	unscreened	-	3881_17:42882769-42882769 C>T_LEETEEDNEEDPIMYPEMELESDKE
8:85441722-85441722 G>A	1.0	3881	MELANOMA	-	-	-	-	RALYL	NM_001100392,p.G56S|NM_001100393,p.G56S|uc010lzy.3,p.G56S|ENST00000521695,p.G56S|ENST00000521268,p.G56S|ENST00000518566,p.G56S|ENST00000517638,p.G69S|NM_001287243,p.G56S|NM_173848,p.G56S|uc003ycs.4,p.G56S|uc003ycr.4,p.G56S|uc003yct.4,p.G69S|ENST00000517988,p.G56S|uc003ycq.4,p.G56S|ENST00000522613,p.G56S|ENST00000522455,p.G56S|NM_001100391,p.G69S	retained_intron, protein_coding	uc010lzy.3	nonsynonymous SNV	exon2	c.G166A	p.G56S	KYGKIVGCSVHKGYAFVQYMSERHA	KYGKIVGCSVHKSYAFVQYMSERHA	4.0	5.0	unscreened	-	3881_8:85441722-85441722 G>A_KYGKIVGCSVHKSYAFVQYMSERHA
4:114275488-114275488 C>T	1.0	3881	MELANOMA	-	-	-	-	ANK2	ENST00000264366,p.S1872L|NM_001148,p.S1905L|uc011cgb.1,p.S1920L|ENST00000357077,p.S1905L|uc003ibe.4,p.S1905L	retained_intron, protein_coding, processed_transcript	uc011cgb.1	nonsynonymous SNV	exon39	c.C5759T	p.S1920L	VSSTKTERHPPVSPSGKTDKRPPVS	VSSTKTERHPPVLPSGKTDKRPPVS	9.0	10.0	-	-	3881_4:114275488-114275488 C>T_VSSTKTERHPPVLPSGKTDKRPPVS
1:248309077-248309077 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1690138;OCCURENCE=1(skin)	-	OR2M5	NM_001004690,p.P210S|uc010pze.2,p.P210S|ENST00000366476,p.P210S	protein_coding	uc010pze.2	nonsynonymous SNV	exon1	c.C628T	p.P210S	VLFICCIVMIVFPVAIIIASYARVI	VLFICCIVMIVFSVAIIIASYARVI	1.0	3.0	unscreened	-	3881_1:248309077-248309077 C>T_VLFICCIVMIVFSVAIIIASYARVI
19:13428034-13428034 C>T	0.0	3881	MELANOMA	-	-	-	-	CACNA1A	NM_001127221,p.V484I|uc021upt.1,p.V484I|NM_001127222,p.V483I|ENST00000360228,p.V483I|uc002mwy.3,p.V483I|ENST00000573710,p.V484I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021upt.1	nonsynonymous SNV	exon11	c.G1450A	p.V484I	KERRMRFYIRRMVKTQAFYWTVLSL	KERRMRFYIRRMIKTQAFYWTVLSL	4.0	3.0	unscreened	-	3881_19:13428034-13428034 C>T_KERRMRFYIRRMIKTQAFYWTVLSL
12:113865924-113865924 C>T	1.0	3881	MELANOMA	-	-	-	-	SDSL	ENST00000403593,p.S46F|uc001tvi.3,p.S46F|ENST00000345635,p.S46F|NM_138432,p.S46F|uc009zwh.3,p.S46F	protein_coding	uc009zwh.3	nonsynonymous SNV	exon2	c.C137T	p.S46F	VFLKCENVQPSGSFKIRGIGHFCQE	VFLKCENVQPSGFFKIRGIGHFCQE	6.0	4.0	unscreened	-	3881_12:113865924-113865924 C>T_VFLKCENVQPSGFFKIRGIGHFCQE
5:90059202-90059202 A>T	1.0	3881	MELANOMA	-	-	-	-	GPR98	NM_032119,p.K4067N|ENST00000405460,p.K4067N|uc003kju.3,p.K4067N	retained_intron, protein_coding, processed_transcript	uc003kju.3	nonsynonymous SNV	exon59	c.A12201T	p.K4067N	YVTLTVVRSPGGKGTVRLEWTIDEK	YVTLTVVRSPGGNGTVRLEWTIDEK	4.0	2.0	unscreened	-	3881_5:90059202-90059202 A>T_YVTLTVVRSPGGNGTVRLEWTIDEK
13:101759917-101759917 C>T	0.0	3881	MELANOMA	-	-	-	-	NALCN	ENST00000251127,p.D834N|NM_052867,p.D834N|uc001vox.1,p.D834N	retained_intron, protein_coding, processed_transcript	uc001vox.1	nonsynonymous SNV	exon22	c.G2500A	p.D834N	QEEELRENHPYFDKPLFIVGREHRF	QEEELRENHPYFNKPLFIVGREHRF	6.0	2.0	unscreened	-	3881_13:101759917-101759917 C>T_QEEELRENHPYFNKPLFIVGREHRF
4:118006055-118006055 C>T	0.0	3881	MELANOMA	-	-	-	-	TRAM1L1	ENST00000310754,p.M165I|NM_152402,p.M165I|uc003ibv.4,p.M165I	protein_coding	uc003ibv.4	nonsynonymous SNV	exon1	c.G495A	p.M165I	WKARPHSMMTFQMKFFYISQLAYWF	WKARPHSMMTFQIKFFYISQLAYWF	2.0	10.0	unscreened	-	3881_4:118006055-118006055 C>T_WKARPHSMMTFQIKFFYISQLAYWF
19:49337583-49337583 G>A	1.0	3881	MELANOMA	-	-	-	-	HSD17B14	uc002pkv.1,p.P54S|uc010emk.1,p.P54S|ENST00000263278,p.P54S|ENST00000595764,p.P18S|NM_016246,p.P54S|ENST00000599157,p.P54S	protein_coding	uc010emk.1	nonsynonymous SNV	exon3	c.C160T	p.P54S	DESGGRALEQELPGAVFILCDVTQE	DESGGRALEQELSGAVFILCDVTQE	7.0	9.0	-	-	3881_19:49337583-49337583 G>A_DESGGRALEQELSGAVFILCDVTQE
12:32977044-32977044 C>T	0.0	3881	MELANOMA	-	-	-	-	PKP2	uc001rlk.4,p.G537R|uc001rlj.4,p.G581R|ENST00000070846,p.G581R|ENST00000340811,p.G537R|uc010skj.2,p.G537R|NM_001005242,p.G537R|NM_004572,p.G581R	retained_intron, protein_coding, processed_transcript	uc010skj.2	nonsynonymous SNV	exon7	c.G1609A	p.G537R	GADGRKAMRRCDGLIDSLVHYVRGT	GADGRKAMRRCDRLIDSLVHYVRGT	2.0	8.0	unscreened	-	3881_12:32977044-32977044 C>T_GADGRKAMRRCDRLIDSLVHYVRGT
4:126398462-126398462 C>T	0.0	3881	MELANOMA	-	-	-	1	FAT4	ENST00000394329,p.A4149V|NM_001291285,p.A4151V|uc003ifi.1,p.A1627V|NM_001291303,p.A4151V|NM_024582,p.A4149V|uc003ifj.4,p.A4149V	retained_intron, protein_coding	uc003ifj.4	nonsynonymous SNV	exon13	c.C12446T	p.A4149V	FAVNGRPLEPSQALAAQGILDQCPR	FAVNGRPLEPSQVLAAQGILDQCPR	4.0	2.0	unscreened	-	3881_4:126398462-126398462 C>T_FAVNGRPLEPSQVLAAQGILDQCPR
5:1254578-1254578 G>A	1.0	3881	MELANOMA	-	-	-	1	TERT	uc003jca.1,p.S1055F|ENST00000334602,p.S1004F|uc003jcb.1,p.S1067F|uc003jcc.1,p.S1004F|ENST00000310581,p.S1067F|uc003jbz.1,p.S263F|NM_198253,p.S1067F|NM_001193376,p.S1004F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jcc.1	nonsynonymous SNV	exon14	c.C3011T	p.S1004F	SLGAKGAAGPLPSEAVQWLCHQAFL	SLGAKGAAGPLPFEAVQWLCHQAFL	5.0	9.0	unscreened	-	3881_5:1254578-1254578 G>A_SLGAKGAAGPLPFEAVQWLCHQAFL
3:128126977-128126977 C>T	0.0	3881	MELANOMA	-	-	-	-	EEFSEC	ENST00000254730,p.R556C|NM_021937,p.R556C|uc003eki.3,p.R556C	protein_coding, processed_transcript	uc003eki.3	nonsynonymous SNV	exon7	c.C1666T	p.R556C	LTPALKKRARAGRGEATRQEESAER	LTPALKKRARAGCGEATRQEESAER	6.0	2.0	unscreened	-	3881_3:128126977-128126977 C>T_LTPALKKRARAGCGEATRQEESAER
1:157771818-157771818 C>T	0.0	3881	MELANOMA	-	-	ID=COSM3802335,COSM3802336;OCCURENCE=1(breast)	-	FCRL1	uc001frg.3,p.G258E|uc001fri.3,p.G258E|NM_001159398,p.G258E|uc001frh.3,p.G258E|NM_052938,p.G258E|ENST00000491942,p.G258E|ENST00000358292,p.G258E|NM_001159397,p.G258E|ENST00000368176,p.G258E	protein_coding, processed_transcript	uc001fri.3	nonsynonymous SNV	exon5	c.G773A	p.G258E	DITLGSRSAPSGGGASFNLSLTEEH	DITLGSRSAPSGEGASFNLSLTEEH	4.0	10.0	unscreened	-	3881_1:157771818-157771818 C>T_DITLGSRSAPSGEGASFNLSLTEEH
16:58543235-58543235 T>C	0.0	3881	MELANOMA	-	-	-	-	NDRG4	uc002eno.3,p.F282L|NM_001242835,p.F282L|ENST00000570248,p.F282L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, ambiguous_orf	uc002eno.3	nonsynonymous SNV	exon13	c.T844C	p.F282L	TQPGKLTEAFKYFLQGMGYIAYLKD	TQPGKLTEAFKYLLQGMGYIAYLKD	4.0	8.0	unscreened	-	3881_16:58543235-58543235 T>C_TQPGKLTEAFKYLLQGMGYIAYLKD
21:10934058-10934058 G>A	0.0	3881	MELANOMA	-	-	-	-	TPTE	uc002yip.1,p.H307Y|ENST00000342420,p.H269Y|ENST00000298232,p.H289Y|uc002yir.1,p.H269Y|NM_199261,p.H307Y|uc010gkv.1,p.H169Y|NM_199259,p.H289Y|ENST00000361285,p.H307Y|NM_001290224,p.H169Y|uc002yiq.1,p.H289Y|NM_199260,p.H269Y	protein_coding, processed_transcript	uc010gkv.1	nonsynonymous SNV	exon11	c.C505T	p.H169Y	FHNRVVRIMIDDHNVPTLHQMVVFT	FHNRVVRIMIDDYNVPTLHQMVVFT	7.0	1.0	unscreened	-	3881_21:10934058-10934058 G>A_FHNRVVRIMIDDYNVPTLHQMVVFT
19:41115711-41115711 C>T	0.0	3881	MELANOMA	-	-	-	-	LTBP4	uc002ooi.1,p.P540S|ENST00000396819,p.P540S|ENST00000204005,p.P570S|ENST00000308370,p.P607S|uc002oog.1,p.P570S|uc002ooh.1,p.P607S|ENST00000545697,p.P60S	retained_intron, protein_coding, processed_transcript	uc002ooi.1	nonsynonymous SNV	exon11	c.C1618T	p.P540S	PPPCAPGRCENSPGSFRCVCGPGFR	PPPCAPGRCENSSGSFRCVCGPGFR	8.0	2.0	unscreened	-	3881_19:41115711-41115711 C>T_PPPCAPGRCENSSGSFRCVCGPGFR
19:22155035-22155035 T>A	1.0	3881	MELANOMA	-	-	-	-	ZNF208	ENST00000397126,p.K934I|uc021urr.1,p.K934I|NM_007153,p.K934I	protein_coding	uc021urr.1	nonsynonymous SNV	exon4	c.A2801T	p.K934I	CGKAFSWLSVFSKHKKTHAGEKFYK	CGKAFSWLSVFSIHKKTHAGEKFYK	8.0	8.0	-	-	3881_19:22155035-22155035 T>A_CGKAFSWLSVFSIHKKTHAGEKFYK
2:228243825-228243825 C>T	0.0	3881	MELANOMA	-	-	-	-	TM4SF20	NM_024795,p.G54R|uc002vpb.2,p.G54R|ENST00000304568,p.G54R	protein_coding	uc002vpb.2	nonsynonymous SNV	exon1	c.G160A	p.G54R	QNPISCFEWWFPGIIGAGLMAIPAT	QNPISCFEWWFPRIIGAGLMAIPAT	1.0	6.0	unscreened	-	3881_2:228243825-228243825 C>T_QNPISCFEWWFPRIIGAGLMAIPAT
19:36004008-36004008 C>T	0.0	3881	MELANOMA	-	-	ID=COSM994992,COSM1590002,COSM1590003;OCCURENCE=1(endometrium)	-	DMKN	NM_001126058,p.G124R|uc002nzz.3,p.G124R|NM_001190348,p.G124R|ENST00000440396,p.G124R|ENST00000418261,p.G124R|NM_033317,p.G124R|uc002nzm.4,p.G124R|NM_001190349,p.G124R|ENST00000451297,p.G124R|NM_001190347,p.G124R|ENST00000429837,p.G124R|ENST00000419602,p.G124R|uc002oaa.4,p.G124R|ENST00000339686,p.G124R|ENST00000447113,p.G124R|uc002nzo.4,p.G124R|NM_001126057,p.G124R|uc002nzn.4,p.G124R|uc002oac.4,p.G124R|ENST00000424570,p.G124R|uc002oab.4,p.G124R|NM_001126056,p.G124R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oac.4	nonsynonymous SNV	exon1	c.G370A	p.G124R	EIGRQAEDVIRHGADAVRGSWQGVP	EIGRQAEDVIRHRADAVRGSWQGVP	10.0	4.0	unscreened	-	3881_19:36004008-36004008 C>T_EIGRQAEDVIRHRADAVRGSWQGVP
17:3195774-3195774 G>C	0.0	3881	MELANOMA	-	-	-	-	OR3A1	uc002fvh.1,p.L35V|NM_002550,p.L35V|ENST00000323404,p.L35V	protein_coding	uc002fvh.1	nonsynonymous SNV	exon1	c.C103G	p.L35V	APGLQPVVFVLFLFAYLVTVRGNLS	APGLQPVVFVLFVFAYLVTVRGNLS	1.0	5.0	unscreened	-	3881_17:3195774-3195774 G>C_APGLQPVVFVLFVFAYLVTVRGNLS
5:1278815-1278815 G>A	0.0	3881	MELANOMA	-	-	-	1	TERT	uc003jcb.1,p.R743W|ENST00000296820,p.R743W|NM_198253,p.R743W|uc003jcc.1,p.R743W|ENST00000310581,p.R743W|ENST00000460137,p.R731W|ENST00000508104,p.R743W|ENST00000334602,p.R743W|uc021xwc.1,p.R195W|NM_001193376,p.R743W|uc003jca.1,p.R731W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xwc.1	nonsynonymous SNV	exon5	c.C583T	p.R195W	SIIKPQNTYCVRRYAVVQKAAHGHV	SIIKPQNTYCVRWYAVVQKAAHGHV	5.0	3.0	unscreened	-	3881_5:1278815-1278815 G>A_SIIKPQNTYCVRWYAVVQKAAHGHV
5:140475821-140475821 G>A	1.0	3881	MELANOMA	-	-	-	-	PCDHB2	uc003lim.1,p.G144S|NM_018936,p.G483S|ENST00000194155,p.G483S|uc003lil.3,p.G483S	protein_coding	uc003lim.1	nonsynonymous SNV	exon2	c.G430A	p.G144S	HIGSVSATDRDSGTNAQVTYSLLPP	HIGSVSATDRDSSTNAQVTYSLLPP	7.0	2.0	unscreened	-	3881_5:140475821-140475821 G>A_HIGSVSATDRDSSTNAQVTYSLLPP
20:49232543-49232543 C>T	0.0	3881	MELANOMA	-	-	-	-	FAM65C	ENST00000045083,p.R111K|uc010zyt.2,p.R115K|ENST00000327979,p.R111K|ENST00000535356,p.R115K|NM_001290268,p.R115K|uc002xvn.1,p.R111K|NM_080829,p.R111K|uc002xvm.3,p.R111K	retained_intron, protein_coding, processed_transcript	uc010zyt.2	nonsynonymous SNV	exon4	c.G344A	p.R115K	LSGRHKDTRRNSRLAFYYDLDKQTR	LSGRHKDTRRNSKLAFYYDLDKQTR	2.0	2.0	unscreened	-	3881_20:49232543-49232543 C>T_LSGRHKDTRRNSKLAFYYDLDKQTR
6:38913304-38913304 G>A	0.0	3881	MELANOMA	-	-	-	-	DNAH8	ENST00000327475,p.M4011I|ENST00000359357,p.M3806I|uc021yzh.1,p.M4023I|ENST00000449981,p.M4023I|NM_001206927,p.M4023I|ENST00000441566,p.M3770I|uc003oog.1,p.M255I|uc003ooe.2,p.M3806I	protein_coding	uc021yzh.1	nonsynonymous SNV	exon80	c.G12069A	p.M4023I	ACPPKPYRWILDMTWLNLVELSKLP	ACPPKPYRWILDITWLNLVELSKLP	1.0	2.0	unscreened	-	3881_6:38913304-38913304 G>A_ACPPKPYRWILDITWLNLVELSKLP
4:126398462-126398462 C>T	0.0	3881	MELANOMA	-	-	-	1	FAT4	ENST00000335110,p.A2412V|uc011cgp.2,p.A2412V	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon12	c.C7235T	p.A2412V	FAVNGRPLEPSQALAAQGILDQYGD	FAVNGRPLEPSQVLAAQGILDQYGD	4.0	2.0	unscreened	-	3881_4:126398462-126398462 C>T_FAVNGRPLEPSQVLAAQGILDQYGD
16:68405975-68405975 G>A	0.0	3881	MELANOMA	-	-	-	-	SMPD3	ENST00000563226,p.S37F|uc010vlh.2,p.S37F|uc002ewa.3,p.S37F|ENST00000219334,p.S37F|ENST00000561749,p.S37F|NM_018667,p.S37F|ENST00000568373,p.S37F|uc010cfe.3,p.S37F	retained_intron, protein_coding, processed_transcript	uc010vlh.2	nonsynonymous SNV	exon1	c.C110T	p.S37F	FPCYWLVDRLAASFIPTTYEKRQRA	FPCYWLVDRLAAFFIPTTYEKRQRA	3.0	10.0	unscreened	-	3881_16:68405975-68405975 G>A_FPCYWLVDRLAAFFIPTTYEKRQRA
12:18891236-18891236 G>A	0.0	3881	MELANOMA	-	-	-	-	CAPZA3	uc001rdy.3,p.E12K|NM_033328,p.E12K|ENST00000317658,p.E12K	protein_coding	uc001rdy.3	nonsynonymous SNV	exon1	c.G34A	p.E12K	MTLSVLSRKDKERVIRRLLLQAPP	MTLSVLSRKDKKRVIRRLLLQAPP	1.0	8.0	unscreened	-	3881_12:18891236-18891236 G>A_MTLSVLSRKDKKRVIRRLLLQAPP
18:2770043-2770043 C>A	1.0	3881	MELANOMA	-	-	-	-	SMCHD1	ENST00000261598,p.Q1635K|NM_015295,p.Q1635K|uc002klm.4,p.Q1635K|ENST00000320876,p.Q1635K|ENST00000577880,p.Q1106K	retained_intron, protein_coding, nonsense_mediated_decay	uc002klm.4	nonsynonymous SNV	exon39	c.C4903A	p.Q1635K	MAALTKEKDQLSQSIVMYKSLFEAS	MAALTKEKDQLSKSIVMYKSLFEAS	9.0	8.0	unscreened	-	3881_18:2770043-2770043 C>A_MAALTKEKDQLSKSIVMYKSLFEAS
4:52861374-52861374 T>A	1.0	3881	MELANOMA	-	-	-	-	LRRC66	ENST00000343457,p.E605V|uc003gzi.3,p.E605V|NM_001024611,p.E605V	protein_coding	uc003gzi.3	nonsynonymous SNV	exon4	c.A1814T	p.E605V	THAEAQRTGDSKERGGTEQSLWDSQ	THAEAQRTGDSKVRGGTEQSLWDSQ	2.0	9.0	unscreened	-	3881_4:52861374-52861374 T>A_THAEAQRTGDSKVRGGTEQSLWDSQ
2:219495466-219495466 G>A	1.0	3881	MELANOMA	-	-	-	-	PLCD4	ENST00000450993,p.E405K|uc021vwx.1,p.E405K|ENST00000417849,p.E405K|ENST00000432688,p.E405K|NM_032726,p.E405K	retained_intron, protein_coding, nonsense_mediated_decay	uc021vwx.1	nonsynonymous SNV	exon9	c.G1213A	p.E405K	QTMARHLTEILGEQLLSTTLDGVLP	QTMARHLTEILGKQLLSTTLDGVLP	4.0	1.0	unscreened	-	3881_2:219495466-219495466 G>A_QTMARHLTEILGKQLLSTTLDGVLP
7:92733196-92733196 G>A	1.0	3881	MELANOMA	-	-	-	-	SAMD9	ENST00000446617,p.P739S|ENST00000379958,p.P739S|uc022ahg.1,p.P739S|uc003umg.3,p.P739S|NM_001193307,p.P739S|uc003umf.3,p.P739S|NM_017654,p.P739S	protein_coding	uc022ahg.1	nonsynonymous SNV	exon1	c.C2215T	p.P739S	PTSTKIIHLYHHPGCGGTTLAMHIL	PTSTKIIHLYHHSGCGGTTLAMHIL	7.0	2.0	unscreened	-	3881_7:92733196-92733196 G>A_PTSTKIIHLYHHSGCGGTTLAMHIL
1:248366535-248366535 C>T	0.0	3881	MELANOMA	-	-	-	-	OR2M3	uc010pzg.2,p.H56Y|NM_001004689,p.H56Y|ENST00000456743,p.H56Y	protein_coding	uc010pzg.2	nonsynonymous SNV	exon1	c.C166T	p.H56Y	VMVLLIYLDTQLHTPMYLLLSQLSL	VMVLLIYLDTQLYTPMYLLLSQLSL	1.0	1.0	unscreened	-	3881_1:248366535-248366535 C>T_VMVLLIYLDTQLYTPMYLLLSQLSL
12:7640126-7640126 C>T	0.0	3881	MELANOMA	-	-	-	-	CD163	ENST00000359156,p.G627R|ENST00000541972,p.G615R|ENST00000396620,p.G660R|uc001qsz.3,p.G627R|NM_203416,p.G627R|uc009zfw.2,p.G660R|NM_004244,p.G627R|ENST00000432237,p.G627R|uc001qta.3,p.G627R	retained_intron, protein_coding, processed_transcript	uc009zfw.2	nonsynonymous SNV	exon7	c.G1978A	p.G660R	EDAHVLCQQLKCGVALSTPGGARFG	EDAHVLCQQLKCRVALSTPGGARFG	8.0	5.0	unscreened	-	3881_12:7640126-7640126 C>T_EDAHVLCQQLKCRVALSTPGGARFG
10:96827078-96827078 A>G	0.0	3881	MELANOMA	-	-	-	2	CYP2C8	NM_001198854,p.I21T|NM_001198855,p.I53T|uc001kkb.3,p.I123T|ENST00000371270,p.I123T|uc010qoa.2,p.I53T|ENST00000527420,p.I123T|NM_000770,p.I123T|NM_001198853,p.I53T|ENST00000539050,p.I37T|uc010qob.2,p.I37T|uc021pwl.1,p.I53T|ENST00000535898,p.I21T|uc010qoc.2,p.I21T|uc010qod.1,p.I37T	retained_intron, protein_coding, nonsense_mediated_decay	uc021pwl.1	nonsynonymous SNV	exon4	c.T158C	p.I53T	GIISSNGKRWKEIRRFSLTTLRNFG	GIISSNGKRWKETRRFSLTTLRNFG	1.0	8.0	unscreened	-	3881_10:96827078-96827078 A>G_GIISSNGKRWKETRRFSLTTLRNFG
13:23904388-23904388 G>A	0.0	3881	MELANOMA	-	-	-	-	SACS	NM_001278055,p.P4396S|NM_014363,p.P4543S|ENST00000402364,p.P3793S|uc001uon.3,p.P4543S|ENST00000382298,p.P4543S|ENST00000382292,p.P4543S|uc001uoo.3,p.P4396S	protein_coding, processed_transcript	uc001uoo.3	nonsynonymous SNV	exon8	c.C13186T	p.P4396S	VDSLKTRYPDLLPFPQIPNDRFTSE	VDSLKTRYPDLLSFPQIPNDRFTSE	7.0	5.0	unscreened	-	3881_13:23904388-23904388 G>A_VDSLKTRYPDLLSFPQIPNDRFTSE
12:94772646-94772646 G>A	1.0	3881	MELANOMA	-	-	-	-	CEP83	uc001tde.3,p.S241F|ENST00000397807,p.S208F|NM_016122,p.S241F|ENST00000339839,p.S241F|NM_001042399,p.S241F|uc001tdd.3,p.S241F|ENST00000547575,p.S241F|ENST00000547232,p.S208F|ENST00000397809,p.S241F|uc001tdf.3,p.S241F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tdf.3	nonsynonymous SNV	exon7	c.C722T	p.S241F	AEVAELKAEKENSEAQVENAQRIQV	AEVAELKAEKENFEAQVENAQRIQV	8.0	6.0	unscreened	-	3881_12:94772646-94772646 G>A_AEVAELKAEKENFEAQVENAQRIQV
X:79955527-79955527 G>A	0.0	3881	MELANOMA	-	-	ID=COSM3940129;OCCURENCE=1(oesophagus)	-	BRWD3	uc004edz.3,p.R628W|NM_153252,p.R958W|uc004edy.3,p.R554W|uc004edv.3,p.R554W|uc004eds.3,p.R554W|uc004edr.3,p.R628W|ENST00000373275,p.R958W|uc004edp.3,p.R787W|uc004edw.3,p.R554W|uc004edt.3,p.R958W|uc004edx.3,p.R554W|uc004eeb.3,p.R554W|uc004eea.3,p.R628W|uc004edq.3,p.R554W|uc010nmj.2,p.R554W|uc004edo.3,p.R554W|uc004edu.3,p.R628W	protein_coding, processed_transcript	uc010nmj.2	nonsynonymous SNV	exon20	c.C1660T	p.R554W	LIYFRQGHEAYVRAVRKSKIYSVNL	LIYFRQGHEAYVWAVRKSKIYSVNL	8.0	2.0	unscreened	-	3881_X:79955527-79955527 G>A_LIYFRQGHEAYVWAVRKSKIYSVNL
12:5687657-5687657 A>T	0.0	3881	MELANOMA	-	-	-	-	ANO2	ENST00000356134,p.F755Y|uc001qnm.2,p.F754Y|ENST00000327087,p.F754Y|NM_001278597,p.F755Y|NM_001278596,p.F759Y|ENST00000546188,p.F755Y	protein_coding, processed_transcript	uc001qnm.2	nonsynonymous SNV	exon22	c.T2261A	p.F754Y	MEMIIQFGFVTLFVASFPLAPVFAL	MEMIIQFGFVTLYVASFPLAPVFAL	1.0	3.0	unscreened	-	3881_12:5687657-5687657 A>T_MEMIIQFGFVTLYVASFPLAPVFAL
12:8212298-8212298 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1705102;OCCURENCE=1(skin)	-	C3AR1	uc021quj.1,p.E162K|uc001qtv.1,p.E162K|NM_004054,p.E162K|ENST00000307637,p.E162K	protein_coding	uc021quj.1	nonsynonymous SNV	exon1	c.G484A	p.E162K	AFVMCIPVFVYREIFTTDNHNRCGY	AFVMCIPVFVYRKIFTTDNHNRCGY	6.0	5.0	unscreened	-	3881_12:8212298-8212298 C>T_AFVMCIPVFVYRKIFTTDNHNRCGY
19:36435761-36435761 C>T	0.0	3881	MELANOMA	-	-	-	-	LRFN3	NM_024509,p.P576L|uc002oco.3,p.P576L|ENST00000246529,p.P576L|ENST00000588831,p.P576L	protein_coding, processed_transcript	uc002oco.3	nonsynonymous SNV	exon3	c.C1727T	p.P576L	VHGGQPPGKAKIPAPVSSVCSQTNG	VHGGQPPGKAKILAPVSSVCSQTNG	5.0	2.0	unscreened	-	3881_19:36435761-36435761 C>T_VHGGQPPGKAKILAPVSSVCSQTNG
4:70156375-70156375 C>T	0.0	3881	MELANOMA	-	-	-	-	UGT2B28	uc003hej.3,p.H386Y|ENST00000335568,p.H386Y|NM_053039,p.H386Y	protein_coding	uc003hej.3	nonsynonymous SNV	exon5	c.C1156T	p.H386Y	HGGANGIYEAIYHGIPMVGIPLFWD	HGGANGIYEAIYYGIPMVGIPLFWD	1.0	10.0	unscreened	-	3881_4:70156375-70156375 C>T_HGGANGIYEAIYYGIPMVGIPLFWD
3:141526547-141526547 C>T	0.0	3881	MELANOMA	-	-	-	-	GRK7	NM_139209,p.P371S|uc011bnd.2,p.P371S|ENST00000264952,p.P371S	protein_coding	uc011bnd.2	nonsynonymous SNV	exon3	c.C1111T	p.P371S	PEILMEKVSYSYPVDWFAMGCSIYE	PEILMEKVSYSYSVDWFAMGCSIYE	1.0	1.0	unscreened	-	3881_3:141526547-141526547 C>T_PEILMEKVSYSYSVDWFAMGCSIYE
17:78032424-78032424 C>T	1.0	3881	MELANOMA	-	-	-	-	CCDC40	uc010wub.2,p.R431W|ENST00000374876,p.R431W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wub.2	nonsynonymous SNV	exon8	c.C1291T	p.R431W	TQVVKKAETERIRAEIEKKKQGVGD	TQVVKKAETERIWAEIEKKKQGVGD	8.0	4.0	unscreened	-	3881_17:78032424-78032424 C>T_TQVVKKAETERIWAEIEKKKQGVGD
18:76936836-76936836 C>A	0.0	3881	MELANOMA	-	-	-	-	ATP9B	NM_198531,p.Q268K|ENST00000426216,p.Q268K|uc002lmx.3,p.Q268K|ENST00000307671,p.Q268K|uc002lmw.1,p.Q268K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lmx.3	nonsynonymous SNV	exon8	c.C802A	p.Q268K	SEKAGSCFIRTDQLDGETDWKLKVA	SEKAGSCFIRTDKLDGETDWKLKVA	8.0	2.0	unscreened	-	3881_18:76936836-76936836 C>A_SEKAGSCFIRTDKLDGETDWKLKVA
18:21494510-21494510 G>A	1.0	3881	MELANOMA	-	-	-	-	LAMA3	NM_198129,p.R2489Q|ENST00000587184,p.R824Q|uc002kut.4,p.R824Q|uc002kur.3,p.R2433Q|uc002kus.4,p.R880Q|uc002kuq.3,p.R2489Q|NM_001127717,p.R2433Q|NM_000227,p.R880Q|ENST00000399516,p.R2433Q|ENST00000269217,p.R880Q|ENST00000313654,p.R2489Q|NM_001127718,p.R824Q	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc002kut.4	nonsynonymous SNV	exon19	c.G2471A	p.R824Q	LTKSETKEAVMDRVKFQRIYQFARL	LTKSETKEAVMDQVKFQRIYQFARL	5.0	8.0	unscreened	-	3881_18:21494510-21494510 G>A_LTKSETKEAVMDQVKFQRIYQFARL
14:20215789-20215789 C>T	0.0	3881	MELANOMA	-	-	-	-	OR4Q3	NM_172194,p.S68F|ENST00000331723,p.S68F|uc010tkt.2,p.S68F	protein_coding	uc010tkt.2	nonsynonymous SNV	exon1	c.C203T	p.S68F	LQSPMYYFLGHLSFIDLCLSCVTVP	LQSPMYYFLGHLFFIDLCLSCVTVP	1.0	1.0	unscreened	-	3881_14:20215789-20215789 C>T_LQSPMYYFLGHLFFIDLCLSCVTVP
1:111216512-111216512 G>A	0.0	3881	MELANOMA	-	-	-	-	KCNA3	NM_002232,p.S307F|ENST00000369769,p.S307F|uc001dzv.1,p.S307F	protein_coding	uc001dzv.1	nonsynonymous SNV	exon1	c.C920T	p.S307F	FFVVETLCIIWFSFELLVRFFACPS	FFVVETLCIIWFFFELLVRFFACPS	5.0	5.0	unscreened	-	3881_1:111216512-111216512 G>A_FFVVETLCIIWFFFELLVRFFACPS
5:170343476-170343476 C>T	0.0	3881	MELANOMA	-	-	-	-	RANBP17	ENST00000522533,p.S281L|ENST00000389118,p.S281L|ENST00000519949,p.S281L|ENST00000523189,p.S281L|ENST00000519256,p.S281L|NM_022897,p.S281L|ENST00000522066,p.S281L|uc003mba.3,p.S281L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mba.3	nonsynonymous SNV	exon9	c.C842T	p.S281L	HSLPPLLSQLALSCLVQFASTRRSL	HSLPPLLSQLALLCLVQFASTRRSL	6.0	7.0	unscreened	-	3881_5:170343476-170343476 C>T_HSLPPLLSQLALLCLVQFASTRRSL
2:197122629-197122629 C>T	0.0	3881	MELANOMA	-	-	-	-	HECW2	ENST00000260983,p.E1113K|NM_020760,p.E1113K|uc002utm.1,p.E1113K|ENST00000409111,p.E757K|uc002utl.1,p.E757K	retained_intron, protein_coding	uc002utm.1	nonsynonymous SNV	exon18	c.G3337A	p.E1113K	RQPDLTRNHSLREKIQFIRTEGTPG	RQPDLTRNHSLRKKIQFIRTEGTPG	7.0	3.0	unscreened	-	3881_2:197122629-197122629 C>T_RQPDLTRNHSLRKKIQFIRTEGTPG
19:52877605-52877605 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF880	uc002pzc.3,p.P65S|ENST00000422689,p.P65S|uc021uyu.1,p.P65S|ENST00000597976,p.P65S|ENST00000424032,p.P65S|ENST00000600321,p.P65S|ENST00000344085,p.P65S|uc002pzb.5,p.P65S|NM_001145434,p.P65S	protein_coding, processed_transcript	uc021uyu.1	nonsynonymous SNV	exon3	c.C193T	p.P65S	LSVISMLEQRRDPRNLQSEVKIANN	LSVISMLEQRRDSRNLQSEVKIANN	8.0	3.0	unscreened	-	3881_19:52877605-52877605 C>T_LSVISMLEQRRDSRNLQSEVKIANN
16:87466741-87466741 G>A	1.0	3881	MELANOMA	-	-	-	-	ZCCHC14	ENST00000268616,p.S117F|ENST00000568020,p.S117F|NM_015144,p.S117F|uc002fjz.1,p.S117F	retained_intron, protein_coding, nonsense_mediated_decay	uc002fjz.1	nonsynonymous SNV	exon3	c.C350T	p.S117F	LSHTKNDRNVECSFEVLWSDSSITS	LSHTKNDRNVECFFEVLWSDSSITS	9.0	7.0	unscreened	-	3881_16:87466741-87466741 G>A_LSHTKNDRNVECFFEVLWSDSSITS
6:25610344-25610344 C>T	1.0	3881	MELANOMA	-	-	-	-	LRRC16A	uc011djw.2,p.P1305L|NM_001173977,p.P1299L|ENST00000329474,p.P1305L|uc010jpy.3,p.P1299L|NM_017640,p.P1305L	protein_coding, processed_transcript	uc011djw.2	nonsynonymous SNV	exon36	c.C3914T	p.P1305L	KVALLPPVLKKVPSDKERDGQSSPQ	KVALLPPVLKKVLSDKERDGQSSPQ	9.0	6.0	unscreened	-	3881_6:25610344-25610344 C>T_KVALLPPVLKKVLSDKERDGQSSPQ
18:43328367-43328367 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC14A1	uc002lbk.4,p.G325S|ENST00000591541,p.G29S|uc010xco.2,p.G220S|NM_015865,p.G325S|ENST00000586142,p.G325S|uc002lbi.4,p.G193S|ENST00000436407,p.G381S|uc002lbh.4,p.G217S|uc002lbf.4,p.G325S|ENST00000415427,p.G381S|NM_001146037,p.G381S|NM_001128588,p.G381S|ENST00000502059,p.G217S|NM_001146036,p.G325S|ENST00000535474,p.G193S|uc010xcn.2,p.G325S|uc010dnk.3,p.G381S|ENST00000321925,p.G325S|ENST00000402943,p.G220S|uc002lbj.4,p.G381S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xco.2	nonsynonymous SNV	exon8	c.G658A	p.G220S	LGCALFTAYLGVGMANFMAEVGLPA	LGCALFTAYLGVSMANFMAEVGLPA	4.0	6.0	unscreened	-	3881_18:43328367-43328367 G>A_LGCALFTAYLGVSMANFMAEVGLPA
19:55106787-55106787 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1712811;OCCURENCE=1(skin)	-	LILRA1	uc002qgh.2,p.S194L|ENST00000453777,p.S194L|ENST00000251372,p.S194L|NM_006863,p.S194L|NM_001278318,p.S194L|uc010yfh.2,p.S194L|NM_001278319,p.S194L	retained_intron, protein_coding, processed_transcript	uc010yfh.2	nonsynonymous SNV	exon4	c.C581T	p.S194L	FSVGPVSPSRRWSYRCYAYDSNSPH	FSVGPVSPSRRWLYRCYAYDSNSPH	3.0	4.0	unscreened	-	3881_19:55106787-55106787 C>T_FSVGPVSPSRRWLYRCYAYDSNSPH
3:50005301-50005301 G>A	1.0	3881	MELANOMA	-	-	-	-	RBM6	NM_005777,p.R148K|ENST00000454079,p.R16K|uc003cyc.3,p.R148K|ENST00000443081,p.R16K|ENST00000425608,p.R148K|ENST00000266022,p.R148K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cyc.3	nonsynonymous SNV	exon3	c.G443A	p.R148K	RGGDGTSMDYRGREAPHMNYRDRDA	RGGDGTSMDYRGKEAPHMNYRDRDA	10.0	9.0	-	-	3881_3:50005301-50005301 G>A_RGGDGTSMDYRGKEAPHMNYRDRDA
5:38884087-38884087 C>T	1.0	3881	MELANOMA	-	-	-	-	OSMR	ENST00000274276,p.P193S|uc003jlm.2,p.P193S|NM_001168355,p.P193S|NM_003999,p.P193S|ENST00000502536,p.P193S|uc003jln.2,p.P193S	protein_coding, nonsense_mediated_decay	uc003jln.2	nonsynonymous SNV	exon5	c.C577T	p.P193S	LEGKQIHGEQLDPHVTAFNLNSVPF	LEGKQIHGEQLDSHVTAFNLNSVPF	7.0	7.0	unscreened	-	3881_5:38884087-38884087 C>T_LEGKQIHGEQLDSHVTAFNLNSVPF
12:48142629-48142629 G>A	1.0	3881	MELANOMA	-	-	-	-	RAPGEF3	ENST00000549151,p.S334F|ENST00000389212,p.S376F|NM_001098532,p.S334F|ENST00000405493,p.S334F|uc009zkq.3,p.S334F|uc009zks.2,p.S388F|uc009zkp.3,p.S334F|NM_006105,p.S334F|ENST00000449771,p.S376F|uc001rpz.4,p.S376F|NM_001098531,p.S376F|ENST00000548919,p.S334F|ENST00000171000,p.S334F|ENST00000395358,p.S376F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zks.2	nonsynonymous SNV	exon11	c.C1163T	p.S388F	LVLERASQGAGPSRPPTPGRNRYTV	LVLERASQGAGPFRPPTPGRNRYTV	7.0	5.0	unscreened	-	3881_12:48142629-48142629 G>A_LVLERASQGAGPFRPPTPGRNRYTV
1:215990454-215990454 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1689847;OCCURENCE=1(skin)	-	USH2A	uc001hku.1,p.P3152L|ENST00000307340,p.P3152L|ENST00000366943,p.P3152L|NM_206933,p.P3152L	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon48	c.C9455T	p.P3152L	ILGYDLLWKTWYPCAKTQKLVQDQS	ILGYDLLWKTWYLCAKTQKLVQDQS	1.0	2.0	unscreened	-	3881_1:215990454-215990454 G>A_ILGYDLLWKTWYLCAKTQKLVQDQS
19:9062736-9062736 G>A	0.0	3881	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.S8237L|ENST00000397910,p.S8237L|NM_024690,p.S8237L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C24710T	p.S8237L	WVETHSTVTQRFSHSEMTTLVSRSP	WVETHSTVTQRFLHSEMTTLVSRSP	1.0	8.0	unscreened	-	3881_19:9062736-9062736 G>A_WVETHSTVTQRFLHSEMTTLVSRSP
10:104176396-104176396 G>A	0.0	3881	MELANOMA	-	-	-	-	PSD	uc009xxd.2,p.P134S|ENST00000020673,p.P134S|ENST00000406432,p.P134S|NM_001270965,p.P134S|uc001kvg.2,p.P134S|uc001kvi.2,p.P134S|NM_002779,p.P134S	protein_coding, processed_transcript	uc009xxd.2	nonsynonymous SNV	exon3	c.C400T	p.P134S	GLSRSWDLGGVSPPRPTPALGPGSN	GLSRSWDLGGVSSPRPTPALGPGSN	4.0	10.0	unscreened	-	3881_10:104176396-104176396 G>A_GLSRSWDLGGVSSPRPTPALGPGSN
14:77703069-77703069 C>A	0.0	3881	MELANOMA	-	-	-	-	TMEM63C	NM_020431,p.S215R|uc001xtf.2,p.S215R|uc010asq.1,p.S215R|ENST00000298351,p.S215R	retained_intron, protein_coding	uc010asq.1	nonsynonymous SNV	exon9	c.C645A	p.S215R	MAHHCLGFAPRNSQKVTRTLMITYV	MAHHCLGFAPRNRQKVTRTLMITYV	2.0	8.0	unscreened	-	3881_14:77703069-77703069 C>A_MAHHCLGFAPRNRQKVTRTLMITYV
3:50379568-50379568 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1046498;OCCURENCE=1(endometrium)	-	ZMYND10	uc003dag.1,p.R293W|uc010hll.1,p.R288W|NM_015896,p.R293W|ENST00000442887,p.R250W|ENST00000231749,p.R293W|ENST00000360165,p.R288W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hll.1	nonsynonymous SNV	exon8	c.C862T	p.R288W	LTSFAKGRLLKLRAFLTDTLLDQLP	LTSFAKGRLLKLWAFLTDTLLDQLP	2.0	9.0	unscreened	-	3881_3:50379568-50379568 G>A_LTSFAKGRLLKLWAFLTDTLLDQLP
19:15904922-15904922 C>T	0.0	3881	MELANOMA	-	-	-	-	OR10H5	NM_001004466,p.H22Y|uc010xos.2,p.H22Y|ENST00000308940,p.H22Y	protein_coding	uc010xos.2	nonsynonymous SNV	exon1	c.C64T	p.H22Y	SEFILVGFSAFPHLQLMLFLLFLLM	SEFILVGFSAFPYLQLMLFLLFLLM	1.0	5.0	unscreened	-	3881_19:15904922-15904922 C>T_SEFILVGFSAFPYLQLMLFLLFLLM
X:102192907-102192907 C>T	1.0	3881	MELANOMA	-	-	-	-	RAB40AL	uc004ejs.3,p.H221Y|ENST00000218249,p.H221Y|NM_001031834,p.H221Y	protein_coding	uc004ejs.3	nonsynonymous SNV	exon1	c.C661T	p.H221Y	VDKLPLPIALRSHLKSFSMAKGLNA	VDKLPLPIALRSYLKSFSMAKGLNA	2.0	7.0	unscreened	-	3881_X:102192907-102192907 C>T_VDKLPLPIALRSYLKSFSMAKGLNA
8:113267561-113267561 G>A	0.0	3881	MELANOMA	-	-	-	2	CSMD3	NM_198124,p.P3280S|uc003yns.3,p.P2522S|uc011lhx.2,p.P3151S|NM_052900,p.P3151S|ENST00000343508,p.P3280S|ENST00000455883,p.P3151S|uc003ynu.3,p.P3320S|ENST00000352409,p.P3250S|uc003ynt.3,p.P3280S|ENST00000339701,p.P2590S|NM_198123,p.P3320S|ENST00000297405,p.P3320S	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon60	c.C9451T	p.P3151S	IYQSEVSFSCNFPFILVGSSTRICQ	IYQSEVSFSCNFSFILVGSSTRICQ	1.0	4.0	unscreened	-	3881_8:113267561-113267561 G>A_IYQSEVSFSCNFSFILVGSSTRICQ
1:28165274-28165274 C>T	1.0	3881	MELANOMA	-	-	-	-	PPP1R8	NM_014110,p.T61I|ENST00000311772,p.T61I|uc001bov.2,p.T61I	protein_coding, processed_transcript	uc001bov.2	nonsynonymous SNV	exon3	c.C182T	p.T61I	YLFGRNPDLCDFTIDHQSCSRVHAA	YLFGRNPDLCDFIIDHQSCSRVHAA	9.0	3.0	unscreened	-	3881_1:28165274-28165274 C>T_YLFGRNPDLCDFIIDHQSCSRVHAA
X:114141273-114141273 C>T	0.0	3881	MELANOMA	-	-	-	-	HTR2C	uc004epv.1,p.H193Y|NM_001256761,p.H193Y|ENST00000371950,p.H193Y	protein_coding	uc004epv.1	nonsynonymous SNV	exon6	c.C577T	p.H193Y	KFRSYWVLRSFLHTADDYGDYVLPD	KFRSYWVLRSFLYTADDYGDYVLPD	1.0	7.0	unscreened	-	3881_X:114141273-114141273 C>T_KFRSYWVLRSFLYTADDYGDYVLPD
8:87226750-87226750 A>C	0.0	3881	MELANOMA	-	-	-	-	SLC7A13	NM_138817,p.F435L|uc003ydq.1,p.F435L|ENST00000297524,p.F435L	protein_coding, processed_transcript	uc003ydq.1	nonsynonymous SNV	exon4	c.T1305G	p.F435L	VYVLLLVLSGLLFYIPLIHFKIRLA	VYVLLLVLSGLLLYIPLIHFKIRLA	1.0	9.0	unscreened	-	3881_8:87226750-87226750 A>C_VYVLLLVLSGLLLYIPLIHFKIRLA
2:209113113-209113113 G>A	1.0	3881	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	ENST00000415282,p.R132C|uc002vcs.3,p.R132C|ENST00000415913,p.R132C|uc002vcu.3,p.R132C|uc002vct.3,p.R132C|NM_001282386,p.R132C|ENST00000345146,p.R132C|NM_005896,p.R132C|NM_001282387,p.R132C|ENST00000446179,p.R132C	retained_intron, protein_coding	uc002vcu.3	nonsynonymous SNV	exon4	c.C394T	p.R132C	LVSGWVKPIIIGRHAYGDQYRATDF	LVSGWVKPIIIGCHAYGDQYRATDF	9.0	6.0	unscreened	-	3881_2:209113113-209113113 G>A_LVSGWVKPIIIGCHAYGDQYRATDF
1:196748376-196748376 G>A	0.0	3881	MELANOMA	-	-	-	-	CFHR3	uc001gtl.3,p.G48E|NM_021023,p.G48E|ENST00000367425,p.G48E|ENST00000471440,p.G48E|uc010poy.2,p.G48E|uc001gtk.3,p.G48E|ENST00000391985,p.G48E|NM_001166624,p.G48E|ENST00000367427,p.G48E	retained_intron, protein_coding, nonsense_mediated_decay	uc010poy.2	nonsynonymous SNV	exon2	c.G143A	p.G48E	ENMRRPYFPVAVGKYYSYYCDEHFE	ENMRRPYFPVAVEKYYSYYCDEHFE	4.0	1.0	unscreened	-	3881_1:196748376-196748376 G>A_ENMRRPYFPVAVEKYYSYYCDEHFE
16:61935122-61935122 C>T	0.0	3881	MELANOMA	-	-	-	-	CDH8	NM_001796,p.G170R|ENST00000299345,p.G170R|uc002eog.2,p.G170R|ENST00000585315,p.G170R|ENST00000584337,p.G170R|ENST00000583382,p.G170R|ENST00000577390,p.G170R|ENST00000577730,p.G170R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eog.2	nonsynonymous SNV	exon3	c.G508A	p.G170R	QDINDNAPEFLNGPYHATVPEMSIL	QDINDNAPEFLNRPYHATVPEMSIL	2.0	6.0	unscreened	-	3881_16:61935122-61935122 C>T_QDINDNAPEFLNRPYHATVPEMSIL
1:223285482-223285482 C>T	0.0	3881	MELANOMA	-	-	-	-	TLR5	ENST00000366881,p.G298R|ENST00000540964,p.G298R|uc001hnw.2,p.G298R|NM_003268,p.G298R|uc001hnv.2,p.G298R|uc021pjl.1,p.G298R|ENST00000342210,p.G298R	protein_coding, processed_transcript	uc021pjl.1	nonsynonymous SNV	exon1	c.G892A	p.G298R	ARSSVRHLDLSHGFVFSLNSRVFET	ARSSVRHLDLSHRFVFSLNSRVFET	4.0	10.0	unscreened	-	3881_1:223285482-223285482 C>T_ARSSVRHLDLSHRFVFSLNSRVFET
18:21478738-21478738 C>T	1.0	3881	MELANOMA	-	-	-	-	LAMA3	NM_000227,p.H275Y|uc002kut.4,p.H275Y|NM_198129,p.H1884Y|uc002kuq.3,p.H1884Y|ENST00000313654,p.H1884Y|NM_001127718,p.H275Y|uc002kur.3,p.H1884Y|uc002kus.4,p.H275Y|ENST00000587184,p.H275Y|NM_001127717,p.H1884Y|ENST00000399516,p.H1884Y|ENST00000269217,p.H275Y	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc002kut.4	nonsynonymous SNV	exon8	c.C823T	p.H275Y	NQLLNYRSAISNHGSKIEGLERELT	NQLLNYRSAISNYGSKIEGLERELT	5.0	6.0	unscreened	-	3881_18:21478738-21478738 C>T_NQLLNYRSAISNYGSKIEGLERELT
21:40777884-40777884 C>T	1.0	3881	MELANOMA	-	-	-	-	LCA5L	ENST00000380671,p.G646E|uc002yxu.3,p.G646E|ENST00000358268,p.G646E|uc002yxv.3,p.G646E|ENST00000288350,p.G646E|NM_152505,p.G646E	retained_intron, protein_coding, processed_transcript	uc002yxv.3	nonsynonymous SNV	exon10	c.G1937A	p.G646E	LPPSQASTSHAFGDSKVTVVNSIKP	LPPSQASTSHAFEDSKVTVVNSIKP	8.0	7.0	unscreened	-	3881_21:40777884-40777884 C>T_LPPSQASTSHAFEDSKVTVVNSIKP
10:122273430-122273430 C>T	0.0	3881	MELANOMA	-	-	-	-	PPAPDC1A	ENST00000427079,p.S58F|uc009xzl.1,p.S58F|ENST00000541332,p.S58F|ENST00000369073,p.S48F|uc010qtd.2,p.S58F|NM_001030059,p.S58F|ENST00000439221,p.S58F|uc001lev.1,p.S58F|ENST00000398250,p.S58F	protein_coding, processed_transcript	uc010qtd.2	nonsynonymous SNV	exon3	c.C173T	p.S58F	SDNIPTRLMFAISFLTPLAVICVVK	SDNIPTRLMFAIFFLTPLAVICVVK	4.0	1.0	unscreened	-	3881_10:122273430-122273430 C>T_SDNIPTRLMFAIFFLTPLAVICVVK
22:50987533-50987533 C>T	0.0	3881	MELANOMA	-	-	-	-	KLHDC7B	uc003bmi.3,p.P313L|NM_138433,p.P313L|ENST00000395676,p.P313L	protein_coding	uc003bmi.3	nonsynonymous SNV	exon1	c.C938T	p.P313L	RGPRGEEPPAAAPVSLPLPAHLHVF	RGPRGEEPPAAALVSLPLPAHLHVF	3.0	8.0	unscreened	-	3881_22:50987533-50987533 C>T_RGPRGEEPPAAALVSLPLPAHLHVF
7:23830531-23830531 C>T	0.0	3881	MELANOMA	-	-	-	-	STK31	uc011jze.3,p.S909L|NM_001260505,p.S909L|ENST00000433467,p.S909L	retained_intron, protein_coding, processed_transcript	uc011jze.3	nonsynonymous SNV	exon22	c.C2726T	p.S909L	PELKMGKPASPGSDLYAYGCLLLWD	PELKMGKPASPGLDLYAYGCLLLWD	1.0	9.0	unscreened	-	3881_7:23830531-23830531 C>T_PELKMGKPASPGLDLYAYGCLLLWD
15:48787347-48787347 C>T	0.0	3881	MELANOMA	-	-	-	-	FBN1	ENST00000316623,p.G884R|uc001zwx.2,p.G884R|NM_000138,p.G884R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zwx.2	nonsynonymous SNV	exon22	c.G2650A	p.G884R	KSQCCSSLGAAWGSPCTLCQVDPIC	KSQCCSSLGAAWRSPCTLCQVDPIC	8.0	2.0	unscreened	-	3881_15:48787347-48787347 C>T_KSQCCSSLGAAWRSPCTLCQVDPIC
14:75265067-75265067 C>T	1.0	3881	MELANOMA	-	-	-	-	YLPM1	ENST00000549293,p.P576S|uc001xqj.4,p.P1023S|ENST00000325680,p.P1023S|ENST00000238571,p.P828S|NM_019589,p.P1023S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xqj.4	nonsynonymous SNV	exon5	c.C3067T	p.P1023S	EGNRGNSSSYRGPGQSRMEDTRDKG	EGNRGNSSSYRGSGQSRMEDTRDKG	8.0	5.0	unscreened	-	3881_14:75265067-75265067 C>T_EGNRGNSSSYRGSGQSRMEDTRDKG
7:100839345-100839345 G>A	0.0	3881	MELANOMA	-	-	-	-	MOGAT3	NM_178176,p.P303L|uc003uyc.3,p.P303L|ENST00000223114,p.P303L	protein_coding	uc003uyc.3	nonsynonymous SNV	exon7	c.C908T	p.P303L	VGRPIPVPQRLHPTEEEVNHYHALY	VGRPIPVPQRLHLTEEEVNHYHALY	1.0	4.0	unscreened	-	3881_7:100839345-100839345 G>A_VGRPIPVPQRLHLTEEEVNHYHALY
9:85622362-85622362 C>T	1.0	3881	MELANOMA	-	-	-	-	RASEF	NM_152573,p.E340K|uc004amo.2,p.E340K|ENST00000376447,p.E340K	protein_coding	uc004amo.2	nonsynonymous SNV	exon7	c.G1018A	p.E340K	YTEDRNSLERQIEILQTANRKLHDS	YTEDRNSLERQIKILQTANRKLHDS	5.0	10.0	-	-	3881_9:85622362-85622362 C>T_YTEDRNSLERQIKILQTANRKLHDS
1:24201558-24201558 G>A	0.0	3881	MELANOMA	-	-	-	-	CNR2	ENST00000536471,p.P184S|NM_001841,p.P184S|ENST00000374472,p.P184S|uc021oij.1,p.P184S|uc001bif.3,p.P184S	protein_coding	uc021oij.1	nonsynonymous SNV	exon1	c.C550T	p.P184S	WTCCPRPCSELFPLIPNDYLLSWLL	WTCCPRPCSELFSLIPNDYLLSWLL	2.0	9.0	unscreened	-	3881_1:24201558-24201558 G>A_WTCCPRPCSELFSLIPNDYLLSWLL
10:98741343-98741343 C>T	1.0	3881	MELANOMA	-	-	-	-	C10orf12	NM_015652,p.P66S|uc009xvg.2,p.P376S|ENST00000286067,p.P66S|uc001kmv.3,p.P66S	protein_coding	uc009xvg.2	nonsynonymous SNV	exon8	c.C1126T	p.P376S	ADKENTLQCPKTPLRQDLEANEQDA	ADKENTLQCPKTSLRQDLEANEQDA	5.0	3.0	unscreened	-	3881_10:98741343-98741343 C>T_ADKENTLQCPKTSLRQDLEANEQDA
7:23830531-23830531 C>T	0.0	3881	MELANOMA	-	-	-	-	STK31	ENST00000354639,p.S886L|NM_032944,p.S886L|ENST00000355870,p.S909L|ENST00000428484,p.S886L|uc003swv.1,p.S75L|NM_031414,p.S909L|NM_001260504,p.S886L|uc003sws.5,p.S909L|uc010kuq.4,p.S886L|uc003swt.5,p.S886L|uc031swr.1,p.S886L	retained_intron, protein_coding, processed_transcript	uc031swr.1	nonsynonymous SNV	exon22	c.C2657T	p.S886L	PELKMGKPASPGSDLYAYGCLLLWL	PELKMGKPASPGLDLYAYGCLLLWL	1.0	9.0	unscreened	-	3881_7:23830531-23830531 C>T_PELKMGKPASPGLDLYAYGCLLLWL
4:48551571-48551571 G>A	1.0	3881	MELANOMA	-	-	-	-	FRYL	uc003gyh.1,p.P1568L|NM_015030,p.P1568L|ENST00000503238,p.P1568L|ENST00000537810,p.P1568L|ENST00000358350,p.P1568L|uc003gyi.1,p.P457L|uc003gyg.1,p.P264L	retained_intron, protein_coding, processed_transcript	uc003gyi.1	nonsynonymous SNV	exon10	c.C1370T	p.P457L	LKVMEHNQGEPLPFPPAGGCWSPLV	LKVMEHNQGEPLLFPPAGGCWSPLV	9.0	10.0	-	-	3881_4:48551571-48551571 G>A_LKVMEHNQGEPLLFPPAGGCWSPLV
7:82785343-82785343 C>T	0.0	3881	MELANOMA	-	-	-	-	PCLO	ENST00000423517,p.G205E|NM_014510,p.G205E|uc003uhv.2,p.G205E|uc003uhx.2,p.G205E|NM_033026,p.G205E|ENST00000333891,p.G205E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon2	c.G614A	p.G205E	QKVVQKEQGKPEGIIKPPLQQQPPK	QKVVQKEQGKPEEIIKPPLQQQPPK	6.0	9.0	unscreened	-	3881_7:82785343-82785343 C>T_QKVVQKEQGKPEEIIKPPLQQQPPK
11:7111393-7111393 C>T	0.0	3881	MELANOMA	-	-	ID=COSM931558;OCCURENCE=1(endometrium)	-	RBMXL2	uc001mfc.2,p.R348C|NM_014469,p.R348C|ENST00000306904,p.R348C	protein_coding	uc001mfc.2	nonsynonymous SNV	exon1	c.C1042T	p.R348C	YSRGRHRVGRPDRGLSLSMERGCPP	YSRGRHRVGRPDCGLSLSMERGCPP	1.0	7.0	unscreened	-	3881_11:7111393-7111393 C>T_YSRGRHRVGRPDCGLSLSMERGCPP
13:101289955-101289955 T>C	1.0	3881	MELANOMA	-	-	-	-	TMTC4	uc001vou.3,p.N260S|NM_001079669,p.N260S|ENST00000376234,p.N260S|uc001vow.1,p.N43S|NM_032813,p.N279S|ENST00000328767,p.N149S|NM_001286453,p.N149S|ENST00000342624,p.N279S|uc001vot.3,p.N279S|uc010tja.2,p.N149S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tja.2	nonsynonymous SNV	exon6	c.A446G	p.N149S	VQKVLHKDKSLENLGMLRNGGLLFR	VQKVLHKDKSLESLGMLRNGGLLFR	7.0	10.0	-	-	3881_13:101289955-101289955 T>C_VQKVLHKDKSLESLGMLRNGGLLFR
7:19184570-19184570 C>T	0.0	3881	MELANOMA	-	-	-	-	FERD3L	uc003suo.1,p.R139Q|NM_152898,p.R139Q|ENST00000275461,p.R139Q	protein_coding	uc003suo.1	nonsynonymous SNV	exon1	c.G416A	p.R139Q	KVPTFAYEKRLSRIETLRLAIVYIS	KVPTFAYEKRLSQIETLRLAIVYIS	1.0	2.0	unscreened	-	3881_7:19184570-19184570 C>T_KVPTFAYEKRLSQIETLRLAIVYIS
11:49170221-49170221 G>A	0.0	3881	MELANOMA	-	-	-	-	FOLH1	NM_001193473,p.P370L|ENST00000343844,p.P370L|uc009yly.3,p.P663L|uc001ngy.3,p.P678L|uc009yma.3,p.P370L|ENST00000256999,p.P678L|ENST00000340334,p.P663L|NM_001193471,p.P663L|NM_004476,p.P678L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yma.3	nonsynonymous SNV	exon16	c.C1109T	p.P370L	DQLMFLERAFIDPLGLPDRPFYRHV	DQLMFLERAFIDLLGLPDRPFYRHV	5.0	10.0	unscreened	-	3881_11:49170221-49170221 G>A_DQLMFLERAFIDLLGLPDRPFYRHV
11:4843021-4843021 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1508094;OCCURENCE=2(skin),1(lung)	-	OR51F2	NM_001004753,p.R136C|uc010qyn.2,p.R136C|ENST00000322110,p.R136C	protein_coding	uc010qyn.2	nonsynonymous SNV	exon1	c.C406T	p.R136C	MESGVLLAMAFDRFVAICYPLRYTT	MESGVLLAMAFDCFVAICYPLRYTT	1.0	4.0	unscreened	-	3881_11:4843021-4843021 C>T_MESGVLLAMAFDCFVAICYPLRYTT
13:31232891-31232891 C>T	1.0	3881	MELANOMA	-	-	ID=COSM1366315;OCCURENCE=1(large_intestine)	-	USPL1	uc001utd.2,p.R564C|uc001utc.2,p.R893C|uc001ute.1,p.R564C|ENST00000255304,p.R893C|NM_005800,p.R893C	protein_coding, processed_transcript	uc001ute.1	nonsynonymous SNV	exon6	c.C1690T	p.R564C	VEGQIHKLRLKLRKKLKAEKKKLAA	VEGQIHKLRLKLCKKLKAEKKKLAA	7.0	5.0	unscreened	-	3881_13:31232891-31232891 C>T_VEGQIHKLRLKLCKKLKAEKKKLAA
16:66422334-66422334 G>A	0.0	3881	MELANOMA	-	-	-	-	CDH5	uc002eom.4,p.D203N|NM_001795,p.D203N|ENST00000563425,p.D203N|uc002eon.1,p.D203N|ENST00000341529,p.D203N	protein_coding, nonsense_mediated_decay	uc002eon.1	nonsynonymous SNV	exon3	c.G607A	p.D203N	YQILKGKEYFAIDNSGRIITITKSL	YQILKGKEYFAINNSGRIITITKSL	6.0	6.0	unscreened	-	3881_16:66422334-66422334 G>A_YQILKGKEYFAINNSGRIITITKSL
20:41420005-41420005 G>A	0.0	3881	MELANOMA	-	-	-	1	PTPRT	ENST00000356100,p.H106Y|ENST00000373190,p.H106Y|ENST00000373193,p.H106Y|NM_007050,p.H106Y|ENST00000373198,p.H106Y|uc002xkg.3,p.H106Y|ENST00000373187,p.H106Y|NM_133170,p.H106Y|ENST00000373201,p.H106Y|ENST00000373184,p.H106Y|uc010ggj.3,p.H106Y	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon3	c.C316T	p.H106Y	TLKENDTHCIDFHYYFSSRDRSSPG	TLKENDTHCIDFYYYFSSRDRSSPG	1.0	9.0	unscreened	-	3881_20:41420005-41420005 G>A_TLKENDTHCIDFYYYFSSRDRSSPG
X:47308619-47308619 G>T	1.0	3881	MELANOMA	-	-	-	-	ZNF41	NM_007130,p.P184T|NM_153380,p.P184T|uc004dhx.4,p.P184T|uc004dhv.4,p.P194T|ENST00000313116,p.P184T|uc004dhs.4,p.P226T|uc004dhu.4,p.P218T|uc004dht.4,p.P98T|ENST00000397050,p.P194T|uc004dhy.4,p.P184T|ENST00000377065,p.P184T|uc004dhw.4,p.P186T|uc011mlm.2,p.P98T	protein_coding, processed_transcript	uc011mlm.2	nonsynonymous SNV	exon4	c.C292A	p.P98T	IEKIIHVTTKLVPSIKRLHNCDTIL	IEKIIHVTTKLVTSIKRLHNCDTIL	8.0	10.0	-	-	3881_X:47308619-47308619 G>T_IEKIIHVTTKLVTSIKRLHNCDTIL
7:50459453-50459453 G>A	0.0	3881	MELANOMA	-	-	-	1	IKZF1	NM_001291842,p.E105K|NM_001291838,p.E161K|uc022acz.1,p.E65K|ENST00000343574,p.E161K|NM_001220767,p.E161K|uc022acu.1,p.E161K|uc003tow.4,p.E248K|uc003toz.4,p.E218K|NM_001291841,p.E105K|ENST00000331340,p.E248K|NM_006060,p.E248K|uc022act.1,p.E161K|uc011kck.2,p.E161K|uc022acy.1,p.E65K|ENST00000438033,p.E161K	retained_intron, protein_coding, processed_transcript	uc022acz.1	nonsynonymous SNV	exon4	c.G193A	p.E65K	LYPVIKEETNHSEMAEDLCKIGSER	LYPVIKEETNHSKMAEDLCKIGSER	6.0	7.0	unscreened	-	3881_7:50459453-50459453 G>A_LYPVIKEETNHSKMAEDLCKIGSER
7:50459453-50459453 G>A	0.0	3881	MELANOMA	-	-	-	1	IKZF1	NM_001291844,p.E63K|NM_001291843,p.E63K	retained_intron, protein_coding, processed_transcript	NM_001291844	nonsynonymous SNV	exon3	c.G187A	p.E63K	RVVVIKEETNHSEMAEDLCKIGSER	RVVVIKEETNHSKMAEDLCKIGSER	6.0	7.0	unscreened	-	3881_7:50459453-50459453 G>A_RVVVIKEETNHSKMAEDLCKIGSER
7:50459453-50459453 G>A	0.0	3881	MELANOMA	-	-	-	1	IKZF1	uc022acr.1,p.E23K|uc003tpa.4,p.E23K	retained_intron, protein_coding, processed_transcript	uc022acr.1	nonsynonymous SNV	exon3	c.G67A	p.E23K	QVSVIKEETNHSEMAEDLCKIGSER	QVSVIKEETNHSKMAEDLCKIGSER	6.0	7.0	unscreened	-	3881_7:50459453-50459453 G>A_QVSVIKEETNHSKMAEDLCKIGSER
7:50459453-50459453 G>A	0.0	3881	MELANOMA	-	-	-	1	IKZF1	uc022acv.1,p.E119K|NM_001220770,p.E119K|uc022acw.1,p.E119K|NM_001291837,p.E206K|uc003toy.4,p.E206K|NM_001291839,p.E119K|ENST00000359197,p.E206K|uc003tox.4,p.E206K|ENST00000439701,p.E206K|NM_001220765,p.E206K	retained_intron, protein_coding, processed_transcript	uc022acw.1	nonsynonymous SNV	exon5	c.G355A	p.E119K	THSVIKEETNHSEMAEDLCKIGSER	THSVIKEETNHSKMAEDLCKIGSER	6.0	7.0	unscreened	-	3881_7:50459453-50459453 G>A_THSVIKEETNHSKMAEDLCKIGSER
16:16272741-16272741 C>T	0.0	3881	MELANOMA	-	-	-	-	ABCC6	uc002den.4,p.D777N|ENST00000205557,p.D777N|NM_001171,p.D777N|ENST00000456970,p.D777N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002den.4	nonsynonymous SNV	exon18	c.G2329A	p.D777N	RAVYRKAAVYLLDDPLAALDAHVGQ	RAVYRKAAVYLLNDPLAALDAHVGQ	1.0	9.0	unscreened	-	3881_16:16272741-16272741 C>T_RAVYRKAAVYLLNDPLAALDAHVGQ
19:58083962-58083962 G>A	1.0	3881	MELANOMA	-	-	-	-	ZNF416	ENST00000196489,p.P437L|NM_017879,p.P437L|uc002qpf.3,p.P437L	protein_coding	uc002qpf.3	nonsynonymous SNV	exon4	c.C1310T	p.P437L	LIQHQLIHSGARPFECDECGKSFSQ	LIQHQLIHSGARLFECDECGKSFSQ	5.0	5.0	unscreened	-	3881_19:58083962-58083962 G>A_LIQHQLIHSGARLFECDECGKSFSQ
8:124195296-124195296 A>T	0.0	3881	MELANOMA	-	-	-	-	FAM83A	uc003ypy.3,p.E67V|ENST00000276699,p.E67V|uc003ypz.3,p.E67V|NM_032899,p.E67V|ENST00000546351,p.E67V|ENST00000522648,p.E67V|NM_001288587,p.E67V|NM_207006,p.E67V|uc003ypx.3,p.E67V|ENST00000536633,p.E67V|ENST00000518448,p.E67V|uc003ypv.3,p.E67V|ENST00000318462,p.E67V|uc003ypw.3,p.E67V	retained_intron, protein_coding, processed_transcript	uc003ypz.3	nonsynonymous SNV	exon1	c.A200T	p.E67V	SQEGEVDFLSSVEAQYIQAQAREPP	SQEGEVDFLSSVVAQYIQAQAREPP	1.0	8.0	unscreened	-	3881_8:124195296-124195296 A>T_SQEGEVDFLSSVVAQYIQAQAREPP
15:85467334-85467334 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC28A1	ENST00000538177,p.S359F|uc010upe.2,p.S359F|NM_001287761,p.S359F	protein_coding	uc010upe.2	nonsynonymous SNV	exon11	c.C1076T	p.S359F	ATIAGSLLGAYISFGVRAEVLTTFA	ATIAGSLLGAYIFFGVRAEVLTTFA	1.0	10.0	unscreened	-	3881_15:85467334-85467334 C>T_ATIAGSLLGAYIFFGVRAEVLTTFA
12:21971127-21971127 G>A	0.0	3881	MELANOMA	-	-	-	-	ABCC9	NM_020297,p.S1243L|ENST00000544039,p.S870L|NM_005691,p.S1243L|ENST00000345162,p.S1207L|uc001rfh.3,p.S1243L|uc001rfi.1,p.S1243L|ENST00000261200,p.S1243L|ENST00000261201,p.S1243L	protein_coding	uc001rfi.1	nonsynonymous SNV	exon30	c.C3728T	p.S1243L	VLTASIASISGSSNSGLVGLGLLYA	VLTASIASISGSLNSGLVGLGLLYA	5.0	4.0	unscreened	-	3881_12:21971127-21971127 G>A_VLTASIASISGSLNSGLVGLGLLYA
16:7657328-7657328 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1379934,COSM1379935,COSM1379936;OCCURENCE=1(large_intestine)	-	RBFOX1	NM_145893,p.E242K|ENST00000552089,p.E239K|uc010buf.1,p.E222K|uc010uya.1,p.E179K|uc002cys.2,p.E222K|ENST00000547338,p.E222K|NM_145891,p.E242K|ENST00000436368,p.E242K|ENST00000311745,p.E242K|ENST00000550418,p.E222K|ENST00000547372,p.E265K|NM_145892,p.E242K|ENST00000551752,p.E222K|ENST00000355637,p.E242K|NM_018723,p.E222K|ENST00000422070,p.E265K|uc002cyx.2,p.E242K|ENST00000547605,p.E221K|ENST00000340209,p.E227K|uc010uyb.1,p.E222K|uc002cyy.2,p.E242K|uc010uxz.1,p.E265K|uc002cyw.2,p.E242K|ENST00000535565,p.E179K|uc002cyr.1,p.E221K|NM_001142334,p.E222K|uc002cyv.1,p.E222K	retained_intron, protein_coding, processed_transcript	uc010uyb.1	nonsynonymous SNV	exon8	c.G664A	p.E222K	KLNPVVGAVYSPEFYAGTVLLCQAN	KLNPVVGAVYSPKFYAGTVLLCQAN	1.0	5.0	unscreened	-	3881_16:7657328-7657328 G>A_KLNPVVGAVYSPKFYAGTVLLCQAN
15:85467334-85467334 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC28A1	ENST00000537703,p.S281F|uc010upd.1,p.S281F	protein_coding	uc010upd.1	nonsynonymous SNV	exon11	c.C842T	p.S281F	ATIAGSLLGAYISFGLEKL	ATIAGSLLGAYIFFGLEKL	1.0	10.0	unscreened	-	3881_15:85467334-85467334 C>T_ATIAGSLLGAYIFFGLEKL
13:101289955-101289955 T>C	1.0	3881	MELANOMA	-	-	-	-	TMTC4	uc001vov.1,p.N5S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vov.1	nonsynonymous SNV	exon1	c.A14G	p.N5S	MSLQNLGMLRNGGLLFR	MSLQSLGMLRNGGLLFR	7.0	10.0	-	-	3881_13:101289955-101289955 T>C_MSLQSLGMLRNGGLLFR
7:50459453-50459453 G>A	0.0	3881	MELANOMA	-	-	-	1	IKZF1	ENST00000440768,p.E206K	retained_intron, protein_coding, processed_transcript	ENST00000440768	nonsynonymous SNV	exon6	c.G616A	p.E206K	THSVIKEETNHSEMAEDLCKIGSEI	THSVIKEETNHSKMAEDLCKIGSEI	6.0	7.0	unscreened	-	3881_7:50459453-50459453 G>A_THSVIKEETNHSKMAEDLCKIGSEI
5:127730897-127730897 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1541525,COSM1541524;OCCURENCE=1(lung)	-	FBN2	uc003kuv.2,p.M350I|ENST00000508053,p.M383I|ENST00000508989,p.M350I|NM_001999,p.M383I|uc003kuu.3,p.M383I|ENST00000262464,p.M383I	retained_intron, protein_coding, processed_transcript	uc003kuv.2	nonsynonymous SNV	exon8	c.G1050A	p.M350I	VNGRCAQELPGRMTKMQCCCEPGRC	VNGRCAQELPGRITKMQCCCEPGRC	5.0	2.0	unscreened	-	3881_5:127730897-127730897 C>T_VNGRCAQELPGRITKMQCCCEPGRC
6:32713600-32713600 C>T	0.0	3881	MELANOMA	-	-	-	-	HLA-DQA2	uc003obx.3,p.P122S|ENST00000374940,p.P122S|NM_020056,p.P122S	protein_coding	uc003obx.3	nonsynonymous SNV	exon3	c.C364T	p.P122S	NEVPEVTVFSKFPVTLGQPNTLICL	NEVPEVTVFSKFSVTLGQPNTLICL	9.0	2.0	unscreened	-	3881_6:32713600-32713600 C>T_NEVPEVTVFSKFSVTLGQPNTLICL
10:86008672-86008672 C>T	0.0	3881	MELANOMA	-	-	-	-	RGR	ENST00000372092,p.P65S|uc001kdb.1,p.P65S	protein_coding, processed_transcript	uc001kdb.1	nonsynonymous SNV	exon3	c.C193T	p.P65S	PRCSHIQPSPCLPQALALRLGRLPG	PRCSHIQPSPCLSQALALRLGRLPG	3.0	2.0	unscreened	-	3881_10:86008672-86008672 C>T_PRCSHIQPSPCLSQALALRLGRLPG
1:248569723-248569723 C>T	0.0	3881	MELANOMA	-	-	-	-	OR2T1	uc010pzm.2,p.S143F|ENST00000366474,p.S143F|NM_030904,p.S143F	protein_coding	uc010pzm.2	nonsynonymous SNV	exon1	c.C428T	p.S143F	MLVNYLLDQRTISFVGCTAQHFLYL	MLVNYLLDQRTIFFVGCTAQHFLYL	1.0	1.0	unscreened	-	3881_1:248569723-248569723 C>T_MLVNYLLDQRTIFFVGCTAQHFLYL
16:70023903-70023903 G>A	0.0	3881	MELANOMA	-	-	-	-	PDXDC2P	ENST00000325845,p.L11F|uc010vlq.1,p.L11F	protein_coding, processed_transcript	uc010vlq.1	nonsynonymous SNV	exon1	c.C31T	p.L11F	MRVRWLRFWLLFWLLLGFISHQP	MRVRWLRFWLFFWLLLGFISHQP	4.0	1.0	unscreened	-	3881_16:70023903-70023903 G>A_MRVRWLRFWLFFWLLLGFISHQP
X:21627640-21627640 A>C	1.0	3881	MELANOMA	-	-	-	-	CNKSR2	uc004czx.2,p.D866A|uc004czy.3,p.D458A|NM_001168647,p.D836A|NM_014927,p.D866A|ENST00000425654,p.D836A|ENST00000279451,p.D866A|ENST00000543067,p.D817A|uc011mjn.2,p.D817A|ENST00000379510,p.D866A|uc011mjo.2,p.D836A|NM_001168648,p.D866A|NM_001168649,p.D817A|uc004czw.3,p.D866A	protein_coding, processed_transcript	uc011mjo.2	nonsynonymous SNV	exon19	c.A2507C	p.D836A	NHCCLNAPVSACDPQDDVQPPEVEE	NHCCLNAPVSACAPQDDVQPPEVEE	6.0	10.0	-	-	3881_X:21627640-21627640 A>C_NHCCLNAPVSACAPQDDVQPPEVEE
X:104464144-104464144 G>A	0.0	3881	MELANOMA	-	-	-	-	TEX13A	ENST00000372578,p.S245F|uc004emb.3,p.S245F|ENST00000372575,p.S245F	protein_coding	uc004emb.3	nonsynonymous SNV	exon3	c.C734T	p.S245F	LPPWRPQRSWRESSCSSLEMLIRKS	LPPWRPQRSWREFSCSSLEMLIRKS	1.0	9.0	unscreened	-	3881_X:104464144-104464144 G>A_LPPWRPQRSWREFSCSSLEMLIRKS
11:6008060-6008060 C>T	0.0	3881	MELANOMA	-	-	-	-	OR52L1	NM_001005173,p.G34E|uc001mcd.2,p.G34E|ENST00000332249,p.G34E	protein_coding	uc001mcd.2	nonsynonymous SNV	exon1	c.G101A	p.G34E	SWRLSQPSFLLVGIPGLEESQHWIA	SWRLSQPSFLLVEIPGLEESQHWIA	1.0	2.0	unscreened	-	3881_11:6008060-6008060 C>T_SWRLSQPSFLLVEIPGLEESQHWIA
1:89850951-89850951 T>C	1.0	3881	MELANOMA	-	-	-	-	GBP6	uc001dnf.2,p.S609P|uc010ost.1,p.S479P|ENST00000370456,p.S609P|ENST00000535065,p.S479P|NM_198460,p.S609P	protein_coding, processed_transcript	uc010ost.1	nonsynonymous SNV	exon9	c.T1435C	p.S479P	LDNLADELTAILSAPAKLIGHGVKG	LDNLADELTAILPAPAKLIGHGVKG	3.0	8.0	unscreened	-	3881_1:89850951-89850951 T>C_LDNLADELTAILPAPAKLIGHGVKG
9:34655294-34655294 C>T	1.0	3881	MELANOMA	-	-	-	-	IL11RA	ENST00000555247,p.P27L	 protein_coding, processed_transcript, nonsense_mediated_decay,retained_intron	ENST00000555247	nonsynonymous SNV	exon2	c.C80T	p.P27L	VATALVSASSPCPQAWGPPGTQCPG	VATALVSASSPCLQAWGPPGTQCPG	7.0	1.0	unscreened	-	3881_9:34655294-34655294 C>T_VATALVSASSPCLQAWGPPGTQCPG
20:60899199-60899199 C>T	0.0	3881	MELANOMA	-	-	-	-	LAMA5	ENST00000252999,p.S1902N|NM_005560,p.S1902N|uc002ycq.3,p.S1902N|uc021wfw.1,p.S1902N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wfw.1	nonsynonymous SNV	exon43	c.G5705A	p.S1902N	AHCERCQAGFVSSRDDPSAPCVSCP	AHCERCQAGFVSNRDDPSAPCVSCP	8.0	5.0	unscreened	-	3881_20:60899199-60899199 C>T_AHCERCQAGFVSNRDDPSAPCVSCP
2:219411735-219411735 G>A	1.0	3881	MELANOMA	0.0005	-	-	-	USP37	uc010zkg.2,p.S170L|uc002vig.2,p.S98L|ENST00000338465,p.S170L|uc002vie.2,p.S170L|uc002vif.2,p.S170L|ENST00000418019,p.S170L|ENST00000258399,p.S170L|NM_020935,p.S170L|uc010zkf.1,p.S170L|ENST00000454775,p.S170L|uc010fvs.1,p.S170L|ENST00000415516,p.S98L	protein_coding, processed_transcript	uc010zkg.2	nonsynonymous SNV	exon7	c.C509T	p.S170L	PFRKVLGNPGRGSIKTVAGSGIART	PFRKVLGNPGRGLIKTVAGSGIART	7.0	4.0	unscreened	-	3881_2:219411735-219411735 G>A_PFRKVLGNPGRGLIKTVAGSGIART
5:140256633-140256633 G>A	1.0	3881	MELANOMA	-	-	-	-	PCDHA12	NM_031864,p.E526K|uc011daf.2,p.E526K|ENST00000398631,p.E526K|uc003lic.2,p.E526K|NM_018903,p.E526K	protein_coding	uc011daf.2	nonsynonymous SNV	exon1	c.G1576A	p.E526K	SGKVYALQPLDHEELELLQFQVSAR	SGKVYALQPLDHKELELLQFQVSAR	4.0	4.0	unscreened	-	3881_5:140256633-140256633 G>A_SGKVYALQPLDHKELELLQFQVSAR
17:67129885-67129885 G>A	0.0	3881	MELANOMA	-	-	-	-	ABCA6	ENST00000284425,p.H230Y|uc002jhw.1,p.H230Y|NM_080284,p.H230Y	retained_intron, protein_coding, processed_transcript	uc002jhw.1	nonsynonymous SNV	exon6	c.C688T	p.H230Y	LHNEMFILFFLLHFSPLVYFISLNV	LHNEMFILFFLLYFSPLVYFISLNV	4.0	6.0	unscreened	-	3881_17:67129885-67129885 G>A_LHNEMFILFFLLYFSPLVYFISLNV
17:48683403-48683403 G>A	0.0	3881	MELANOMA	-	-	-	-	CACNA1G	uc031rde.1,p.G1394S|ENST00000416767,p.G1481S	protein_coding, nonsense_mediated_decay	uc031rde.1	nonsynonymous SNV	exon22	c.G4180A	p.G1394S	FDNLGQVSPRLRGGAVVKEAGGGTG	FDNLGQVSPRLRSGAVVKEAGGGTG	1.0	6.0	unscreened	-	3881_17:48683403-48683403 G>A_FDNLGQVSPRLRSGAVVKEAGGGTG
7:27582602-27582602 G>A	1.0	3881	MELANOMA	-	-	-	-	HIBADH	uc003szi.3,p.A152V	retained_intron, protein_coding, nonsense_mediated_decay	uc003szi.3	nonsynonymous SNV	exon4	c.C455T	p.A152V	LGCMGSNVVYCGAVGTGQCNTINLE	LGCMGSNVVYCGVVGTGQCNTINLE	9.0	6.0	unscreened	-	3881_7:27582602-27582602 G>A_LGCMGSNVVYCGVVGTGQCNTINLE
7:27582602-27582602 G>A	1.0	3881	MELANOMA	-	-	-	-	HIBADH	NM_152740,p.A201V|ENST00000265395,p.A201V|uc003szg.3,p.A152V|uc003szf.3,p.A201V	retained_intron, protein_coding, nonsense_mediated_decay	uc003szg.3	nonsynonymous SNV	exon5	c.C455T	p.A152V	LGCMGSNVVYCGAVGTGQAAKICNN	LGCMGSNVVYCGVVGTGQAAKICNN	9.0	6.0	unscreened	-	3881_7:27582602-27582602 G>A_LGCMGSNVVYCGVVGTGQAAKICNN
19:39868296-39868296 C>T	1.0	3881	MELANOMA	-	-	-	-	SAMD4B	ENST00000314471,p.P426S|NM_018028,p.P426S|uc002ola.3,p.P426S|ENST00000598913,p.P426S|uc002olb.3,p.P426S	retained_intron, protein_coding, processed_transcript	uc002olb.3	nonsynonymous SNV	exon10	c.C1276T	p.P426S	APGEPPLPGAEPPLAHPGTDKGTEA	APGEPPLPGAEPSLAHPGTDKGTEA	10.0	7.0	unscreened	-	3881_19:39868296-39868296 C>T_APGEPPLPGAEPSLAHPGTDKGTEA
10:27702309-27702309 C>T	0.0	3881	MELANOMA	-	-	-	-	PTCHD3	NM_001034842,p.G291S|ENST00000438700,p.G291S|uc001itu.2,p.G291S	protein_coding	uc001itu.2	nonsynonymous SNV	exon1	c.G871A	p.G291S	NLSSISFPAYNHGRHPLYLTGFFGG	NLSSISFPAYNHSRHPLYLTGFFGG	1.0	10.0	unscreened	-	3881_10:27702309-27702309 C>T_NLSSISFPAYNHSRHPLYLTGFFGG
10:123353261-123353261 G>A	0.0	3881	MELANOMA	-	-	ID=COSM29839;OCCURENCE=1(skin)	1	FGFR2	NM_001144916,p.S24F|uc021qaa.1,p.S24F|ENST00000346997,p.S24F|ENST00000369056,p.S24F|uc021pzx.1,p.S24F|ENST00000359354,p.S24F|NM_000141,p.S24F|NM_001144913,p.S24F|uc021qac.1,p.S43F|ENST00000356226,p.S24F|ENST00000336553,p.S24F|uc021pzw.1,p.S24F|uc010qtq.2,p.S43F|ENST00000360144,p.S24F|ENST00000369058,p.S24F|ENST00000369059,p.S24F|NM_001144915,p.S24F|uc021qab.1,p.S24F|ENST00000457416,p.S24F|uc021pzy.1,p.S24F|NM_001144917,p.S24F|uc010qtm.2,p.S24F|NM_001144919,p.S24F|ENST00000357555,p.S24F|uc010qtl.2,p.S24F|NM_001144914,p.S24F|ENST00000604236,p.S24F|uc021pzv.1,p.S24F|ENST00000351936,p.S24F|uc010qtn.2,p.S43F|ENST00000358487,p.S24F|uc010qtp.2,p.S43F|uc010qto.2,p.S43F|NM_023029,p.S24F|NM_022970,p.S24F|ENST00000369061,p.S24F|NM_001144918,p.S24F|ENST00000369060,p.S24F|uc031pxk.1,p.S24F|uc001lfo.1,p.S43F|uc021pzz.1,p.S24F	retained_intron, protein_coding, processed_transcript	uc031pxk.1	nonsynonymous SNV	exon1	c.C71T	p.S24F	VVTMATLSLARPSFSLVEDTTLEPE	VVTMATLSLARPFFSLVEDTTLEPE	4.0	2.0	unscreened	-	3881_10:123353261-123353261 G>A_VVTMATLSLARPFFSLVEDTTLEPE
16:67005196-67005196 C>A	0.0	3881	MELANOMA	-	-	-	-	CES3	NM_001185176,p.T61N|ENST00000543856,p.T61N|NM_001185177,p.T422N|uc002eqt.3,p.T422N|uc010viw.2,p.T61N|ENST00000394037,p.T422N|ENST00000303334,p.T422N|uc010cdz.3,p.T422N|NM_024922,p.T422N	retained_intron, protein_coding, nonsense_mediated_decay	uc010viw.2	nonsynonymous SNV	exon3	c.C182A	p.T61N	QEFMGDVFINVPTVSFSRYLRDSGS	QEFMGDVFINVPNVSFSRYLRDSGS	3.0	3.0	unscreened	-	3881_16:67005196-67005196 C>A_QEFMGDVFINVPNVSFSRYLRDSGS
5:178373928-178373928 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF454	uc010jkz.2,p.S64F|NM_001178090,p.S64F|NM_182594,p.S64F|ENST00000519564,p.S64F|NM_001178089,p.S64F|ENST00000320129,p.S64F|uc003mjo.2,p.S64F|uc021yjc.1,p.S64F	retained_intron, protein_coding	uc021yjc.1	nonsynonymous SNV	exon4	c.C191T	p.S64F	SLGLLGPKPDTFSQLEKREVWMPED	SLGLLGPKPDTFFQLEKREVWMPED	3.0	7.0	unscreened	-	3881_5:178373928-178373928 C>T_SLGLLGPKPDTFFQLEKREVWMPED
1:156880065-156880065 G>A	0.0	3881	MELANOMA	-	-	-	-	PEAR1	uc001fqk.1,p.G198E|ENST00000292357,p.G573E|ENST00000338302,p.G573E|uc001fqj.1,p.G573E|NM_001080471,p.G573E	retained_intron, protein_coding, nonsense_mediated_decay	uc001fqk.1	nonsynonymous SNV	exon9	c.G593A	p.G198E	ARCHLSCPEGLWGVNCSNTCTCKNG	ARCHLSCPEGLWEVNCSNTCTCKNG	3.0	10.0	unscreened	-	3881_1:156880065-156880065 G>A_ARCHLSCPEGLWEVNCSNTCTCKNG
7:82785287-82785287 C>T	0.0	3881	MELANOMA	-	-	-	-	PCLO	ENST00000423517,p.G224R|uc003uhv.2,p.G224R|ENST00000333891,p.G224R|NM_014510,p.G224R|NM_033026,p.G224R|uc003uhx.2,p.G224R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon2	c.G670A	p.G224R	QQQPPKPIPKQQGPGRDPLQQDGTP	QQQPPKPIPKQQRPGRDPLQQDGTP	6.0	8.0	unscreened	-	3881_7:82785287-82785287 C>T_QQQPPKPIPKQQRPGRDPLQQDGTP
14:20665739-20665739 C>T	0.0	3881	MELANOMA	-	-	-	-	OR11G2	ENST00000357366,p.S82F|NM_001005503,p.S82F|uc010tlb.2,p.S82F	protein_coding	uc010tlb.2	nonsynonymous SNV	exon1	c.C245T	p.S82F	TVVYLLTLMGNGSIICAVHWDQRLH	TVVYLLTLMGNGFIICAVHWDQRLH	1.0	4.0	unscreened	-	3881_14:20665739-20665739 C>T_TVVYLLTLMGNGFIICAVHWDQRLH
12:10766047-10766047 G>A	1.0	3881	MELANOMA	-	-	-	-	MAGOHB	ENST00000381881,p.R29W|NM_018048,p.R29W|uc001qyq.2,p.R29W|ENST00000320756,p.R29W|ENST00000544850,p.R29W	retained_intron, protein_coding, nonsense_mediated_decay	uc001qyq.2	nonsynonymous SNV	exon1	c.C85T	p.R29W	GKFGHEFLEFEFRPDGKLRYANNSN	GKFGHEFLEFEFWPDGKLRYANNSN	8.0	1.0	unscreened	-	3881_12:10766047-10766047 G>A_GKFGHEFLEFEFWPDGKLRYANNSN
2:55254214-55254214 G>A	0.0	3881	MELANOMA	-	-	-	-	RTN4	NM_207521,p.H135Y|NM_020532,p.H341Y|ENST00000354474,p.H109Y|ENST00000394611,p.H135Y|uc002rye.3,p.H341Y|ENST00000405240,p.H135Y|ENST00000337526,p.H341Y|ENST00000404909,p.H135Y|ENST00000357376,p.H135Y|uc002ryd.3,p.H135Y	protein_coding, processed_transcript	uc002rye.3	nonsynonymous SNV	exon3	c.C1021T	p.H341Y	DEEEKLVSNNILHNQQELPTALTKL	DEEEKLVSNNILYNQQELPTALTKL	10.0	4.0	unscreened	-	3881_2:55254214-55254214 G>A_DEEEKLVSNNILYNQQELPTALTKL
2:121708935-121708935 C>T	0.0	3881	MELANOMA	-	-	-	-	GLI2	ENST00000361492,p.P124L|NM_005270,p.P124L|uc002tmw.1,p.P124L|uc010yyu.1,p.P124L|ENST00000452319,p.P124L|uc010flp.3,p.P124L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yyu.1	nonsynonymous SNV	exon4	c.C371T	p.P124L	ESPFNAPHPYVNPHMEHYLRSVHSS	ESPFNAPHPYVNLHMEHYLRSVHSS	2.0	7.0	unscreened	-	3881_2:121708935-121708935 C>T_ESPFNAPHPYVNLHMEHYLRSVHSS
1:247769251-247769251 C>T	0.0	3881	MELANOMA	-	-	-	-	OR2G3	uc010pyz.2,p.R122W|ENST00000320002,p.R122W|NM_001001914,p.R122W	protein_coding	uc010pyz.2	nonsynonymous SNV	exon1	c.C364T	p.R122W	TECILLADMALDRYIAVCKPLHYVV	TECILLADMALDWYIAVCKPLHYVV	1.0	2.0	unscreened	-	3881_1:247769251-247769251 C>T_TECILLADMALDWYIAVCKPLHYVV
20:8782745-8782745 G>A	0.0	3881	MELANOMA	-	-	-	-	PLCB1	ENST00000378637,p.D1156N|uc002wna.4,p.D1156N|NM_182734,p.D1156N|ENST00000378641,p.D1156N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002wna.4	nonsynonymous SNV	exon32	c.G3466A	p.D1156N	GSSSFLSETCHEDPSVSPNFTPPNP	GSSSFLSETCHENPSVSPNFTPPNP	6.0	5.0	unscreened	-	3881_20:8782745-8782745 G>A_GSSSFLSETCHENPSVSPNFTPPNP
3:53845206-53845206 G>A	1.0	3881	MELANOMA	-	-	ID=COSM3596376,COSM3596375;OCCURENCE=2(liver)	1	CACNA1D	uc003dgu.5,p.E2107K|NM_001128839,p.E2063K|uc003dgy.5,p.E2063K|uc003dgw.4,p.E1754K|uc003dgv.5,p.E2087K|ENST00000288139,p.E2107K|ENST00000422281,p.E2063K|NM_001128840,p.E2087K|NM_000720,p.E2107K|ENST00000481478,p.E1780K|ENST00000350061,p.E2087K	retained_intron, protein_coding, processed_transcript	uc003dgy.5	nonsynonymous SNV	exon46	c.G6187A	p.E2063K	ARDPKFVSATKHEIADACDLTIDEM	ARDPKFVSATKHKIADACDLTIDEM	5.0	9.0	-	-	3881_3:53845206-53845206 G>A_ARDPKFVSATKHKIADACDLTIDEM
6:7578709-7578709 C>T	0.0	3881	MELANOMA	-	-	-	-	DSP	NM_001008844,p.H1000Y|uc003mxp.1,p.H1000Y|NM_004415,p.H1000Y|uc003mxq.1,p.H1000Y|uc021yle.1,p.H1000Y|ENST00000418664,p.H1000Y|ENST00000379802,p.H1000Y	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon22	c.C2998T	p.H1000Y	PSGVILQEAADVHARYIELLTRSGD	PSGVILQEAADVYARYIELLTRSGD	3.0	9.0	unscreened	-	3881_6:7578709-7578709 C>T_PSGVILQEAADVYARYIELLTRSGD
3:81754700-81754700 A>T	1.0	3881	MELANOMA	-	-	-	-	GBE1	ENST00000429644,p.S70T|NM_000158,p.S70T|ENST00000489715,p.S29T|uc021xav.1,p.S70T|uc021xax.1,p.S29T	retained_intron, protein_coding, processed_transcript	uc021xax.1	nonsynonymous SNV	exon2	c.T85A	p.S29T	NIGENEGGIDKFSRGYESFGVHRCA	NIGENEGGIDKFTRGYESFGVHRCA	10.0	3.0	unscreened	-	3881_3:81754700-81754700 A>T_NIGENEGGIDKFTRGYESFGVHRCA
1:43110401-43110401 G>A	1.0	3881	MELANOMA	-	-	-	-	CCDC30	ENST00000340612,p.E605K|ENST00000342022,p.E605K|NM_001080850,p.E605K|ENST00000507855,p.E394K|uc001chn.2,p.E394K|ENST00000428554,p.E605K|ENST00000477155,p.E303K|ENST00000390640,p.E394K|uc001chm.2,p.E303K|uc009vwk.1,p.E605K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vwk.1	nonsynonymous SNV	exon13	c.G1813A	p.E605K	VLYMDKENKQLQENSLRLTQQIGFL	VLYMDKENKQLQKNSLRLTQQIGFL	6.0	7.0	unscreened	-	3881_1:43110401-43110401 G>A_VLYMDKENKQLQKNSLRLTQQIGFL
16:67380205-67380205 A>C	0.0	3881	MELANOMA	-	-	-	-	LRRC36	NM_018296,p.N82T|uc002esv.3,p.N82T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002esv.3	nonsynonymous SNV	exon3	c.A245C	p.N82T	YLCSLQDLNLYYNNIPSLVEVSRLQ	YLCSLQDLNLYYTNIPSLVEVSRLQ	5.0	7.0	unscreened	-	3881_16:67380205-67380205 A>C_YLCSLQDLNLYYTNIPSLVEVSRLQ
4:175898621-175898621 G>A	0.0	3881	MELANOMA	-	-	-	-	ADAM29	ENST00000514159,p.D649N|NM_001130705,p.D649N|uc003iud.3,p.D649N|uc021xuo.1,p.D649N|uc031shw.1,p.D649N|uc031shv.1,p.D649N|uc010irr.3,p.D649N|NM_001278127,p.D649N|ENST00000404450,p.D649N|uc031shu.1,p.D649N|NM_001278126,p.D649N|ENST00000445694,p.D649N|NM_001130704,p.D649N|uc011cki.2,p.D649N|ENST00000359240,p.D649N|NM_014269,p.D649N|NM_001278125,p.D649N|NM_001130703,p.D649N|uc003iuc.3,p.D649N	retained_intron, protein_coding, processed_transcript	uc031shw.1	nonsynonymous SNV	exon2	c.G1945A	p.D649N	NNKHHCHCNYLWDPPNCLIKGYGGS	NNKHHCHCNYLWNPPNCLIKGYGGS	1.0	10.0	unscreened	-	3881_4:175898621-175898621 G>A_NNKHHCHCNYLWNPPNCLIKGYGGS
10:105173008-105173008 C>T	1.0	3881	MELANOMA	-	-	-	-	PDCD11	uc001kwy.1,p.P372S|ENST00000369797,p.P372S|NM_014976,p.P372S	protein_coding, processed_transcript	uc001kwy.1	nonsynonymous SNV	exon9	c.C1114T	p.P372S	SCQNLGAVLDDVPVQGFFKKAGATF	SCQNLGAVLDDVSVQGFFKKAGATF	8.0	3.0	unscreened	-	3881_10:105173008-105173008 C>T_SCQNLGAVLDDVSVQGFFKKAGATF
15:38765739-38765739 C>T	1.0	3881	MELANOMA	-	-	-	-	FAM98B	ENST00000491535,p.H189Y|uc001zkc.3,p.H189Y|ENST00000397609,p.H189Y|NM_173611,p.H189Y|uc001zkb.1,p.H189Y	retained_intron, protein_coding	uc001zkc.3	nonsynonymous SNV	exon5	c.C565T	p.H189Y	KVKDILSKVQKNHVGKPLLKMDLNS	KVKDILSKVQKNYVGKPLLKMDLNS	6.0	1.0	unscreened	-	3881_15:38765739-38765739 C>T_KVKDILSKVQKNYVGKPLLKMDLNS
13:49037915-49037915 C>T	1.0	3881	MELANOMA	-	-	-	1	RB1	ENST00000267163,p.L719F|uc001vcb.3,p.L719F|NM_000321,p.L719F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vcb.3	nonsynonymous SNV	exon21	c.C2155T	p.L719F	SMYGICKVKNIDLKFKIIVTAYKDL	SMYGICKVKNIDFKFKIIVTAYKDL	10.0	4.0	unscreened	-	3881_13:49037915-49037915 C>T_SMYGICKVKNIDFKFKIIVTAYKDL
3:3085381-3085381 G>A	0.0	3881	MELANOMA	-	-	-	-	CNTN4	ENST00000418658,p.G935E|NM_001206956,p.G606E|ENST00000427331,p.G935E|ENST00000397459,p.G607E|uc003bpe.3,p.G607E|uc021wsg.1,p.G935E|NM_001206955,p.G935E|ENST00000358480,p.G716E|NM_175607,p.G935E|ENST00000397461,p.G935E|uc003bpf.3,p.G606E|NM_175613,p.G607E|ENST00000448906,p.G607E|uc003bpg.3,p.G191E|uc003bpc.3,p.G935E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wsg.1	nonsynonymous SNV	exon22	c.G2804A	p.G935E	QVKALDNESEVKGYKVLYRWNRQSS	QVKALDNESEVKEYKVLYRWNRQSS	1.0	1.0	unscreened	-	3881_3:3085381-3085381 G>A_QVKALDNESEVKEYKVLYRWNRQSS
X:115572236-115572236 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC6A14	uc004eqi.3,p.S106L|ENST00000371900,p.S106L|NM_007231,p.S106L	protein_coding, processed_transcript	uc004eqi.3	nonsynonymous SNV	exon3	c.C317T	p.S106L	CSLGQFASLGPVSVWRILPLFQGVG	CSLGQFASLGPVLVWRILPLFQGVG	1.0	5.0	unscreened	-	3881_X:115572236-115572236 C>T_CSLGQFASLGPVLVWRILPLFQGVG
X:64137745-64137745 C>T	0.0	3881	MELANOMA	-	-	-	-	ZC4H2	NM_001178033,p.G144R|ENST00000447788,p.G144R|uc011mow.2,p.G144R	protein_coding, processed_transcript	uc011mow.2	nonsynonymous SNV	exon4	c.G430A	p.G144R	LEPACHVTSKFTGMHLYALFARPRV	LEPACHVTSKFTRMHLYALFARPRV	3.0	2.0	unscreened	-	3881_X:64137745-64137745 C>T_LEPACHVTSKFTRMHLYALFARPRV
9:34655294-34655294 C>T	1.0	3881	MELANOMA	-	-	-	-	IL11RA	ENST00000553620,p.P27L	 protein_coding, processed_transcript, nonsense_mediated_decay,retained_intron	ENST00000553620	nonsynonymous SNV	exon2	c.C80T	p.P27L	VATALVSASSPCPQAWGPPDPPARP	VATALVSASSPCLQAWGPPDPPARP	7.0	1.0	unscreened	-	3881_9:34655294-34655294 C>T_VATALVSASSPCLQAWGPPDPPARP
12:55356531-55356531 G>A	0.0	3881	MELANOMA	-	-	ID=COSM240360,COSM240361;OCCURENCE=1(prostate)	-	TESPA1	uc001sgn.4,p.S384L|NM_001098815,p.S384L|uc010spd.2,p.S384L|uc001sgm.4,p.S131L|uc010spc.2,p.S246L|ENST00000531122,p.S246L|uc010spb.2,p.S131L|ENST00000532804,p.S246L|ENST00000524622,p.S246L|ENST00000316577,p.S384L|NM_001136030,p.S384L|NM_001261844,p.S246L|NM_014796,p.S246L|ENST00000449076,p.S384L|uc001sgl.4,p.S246L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010spd.2	nonsynonymous SNV	exon9	c.C1151T	p.S384L	MSTVLAPSQTLDSNPKVPCCTHSLP	MSTVLAPSQTLDLNPKVPCCTHSLP	5.0	9.0	unscreened	-	3881_12:55356531-55356531 G>A_MSTVLAPSQTLDLNPKVPCCTHSLP
10:106207507-106207507 G>A	0.0	3881	MELANOMA	-	-	-	-	CFAP58	uc001kyh.3,p.G770R|NM_001008723,p.G770R|ENST00000369704,p.G770R	protein_coding	uc001kyh.3	nonsynonymous SNV	exon16	c.G2308A	p.G770R	YMELKHVLARQPGPEAAEQLKLYRR	YMELKHVLARQPRPEAAEQLKLYRR	3.0	3.0	unscreened	-	3881_10:106207507-106207507 G>A_YMELKHVLARQPRPEAAEQLKLYRR
1:167097106-167097106 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1689095;OCCURENCE=1(skin)	-	DUSP27	uc001geb.1,p.S913F|ENST00000443333,p.S913F|NM_001080426,p.S913F|ENST00000271385,p.S913F|ENST00000361200,p.S913F	protein_coding, processed_transcript	uc001geb.1	nonsynonymous SNV	exon5	c.C2738T	p.S913F	RSNSQKPETDTCSSLAVCDHYASGS	RSNSQKPETDTCFSLAVCDHYASGS	1.0	10.0	unscreened	-	3881_1:167097106-167097106 C>T_RSNSQKPETDTCFSLAVCDHYASGS
3:46497815-46497815 C>T	0.0	3881	MELANOMA	-	-	ID=COSM226076;OCCURENCE=1(NS)	-	LTF	NM_001199149,p.R50Q|ENST00000426532,p.R50Q|uc003cpq.3,p.R94Q|ENST00000231751,p.R94Q|uc010hjh.3,p.R94Q|ENST00000417439,p.R94Q|ENST00000415180,p.R50Q|NM_002343,p.R94Q|uc003cpr.3,p.R81Q|uc003fzr.3,p.R50Q|ENST00000443496,p.R81Q|ENST00000431944,p.R105Q	retained_intron, protein_coding, processed_transcript	uc010hjh.3	nonsynonymous SNV	exon3	c.G281A	p.R94Q	FIYEAGLAPYKLRPVAAEVYGTERQ	FIYEAGLAPYKLQPVAAEVYGTERQ	3.0	1.0	unscreened	-	3881_3:46497815-46497815 C>T_FIYEAGLAPYKLQPVAAEVYGTERQ
2:219544363-219544363 G>A	1.0	3881	MELANOMA	-	-	-	-	STK36	NM_015690,p.E287K|ENST00000440309,p.E287K|ENST00000392106,p.E287K|ENST00000295709,p.E287K|uc002viv.3,p.E287K|uc002viu.3,p.E287K|NM_001243313,p.E287K|ENST00000392105,p.E287K	retained_intron, protein_coding, nonsense_mediated_decay	uc002viv.3	nonsynonymous SNV	exon8	c.G859A	p.E287K	SRLPPELQVLKDEQAHRLAPKGNQS	SRLPPELQVLKDKQAHRLAPKGNQS	8.0	2.0	unscreened	-	3881_2:219544363-219544363 G>A_SRLPPELQVLKDKQAHRLAPKGNQS
5:76129453-76129453 C>T	0.0	3881	MELANOMA	-	-	-	-	F2RL1	uc003keo.3,p.P341S|ENST00000296677,p.P341S|NM_005242,p.P341S	protein_coding	uc003keo.3	nonsynonymous SNV	exon2	c.C1021T	p.P341S	ALCLSTLNSCIDPFVYYFVSHDFRD	ALCLSTLNSCIDSFVYYFVSHDFRD	2.0	7.0	unscreened	-	3881_5:76129453-76129453 C>T_ALCLSTLNSCIDSFVYYFVSHDFRD
5:68840856-68840856 G>A	1.0	3881	MELANOMA	-	-	-	-	OCLN	ENST00000538151,p.G137E|uc003jwv.4,p.G388E|uc021xzs.1,p.G137E|uc021xzq.1,p.G137E|uc003jwu.3,p.G388E|NM_001205255,p.G137E|NM_001205254,p.G388E|NM_002538,p.G388E|ENST00000380766,p.G334E|ENST00000355237,p.G388E|ENST00000542132,p.G66E|uc021xzt.1,p.G66E|ENST00000396442,p.G388E	retained_intron, protein_coding, processed_transcript	uc021xzt.1	nonsynonymous SNV	exon3	c.G197A	p.G66E	TPSKRAPAKGRAGRSKRTEQDHYET	TPSKRAPAKGRAERSKRTEQDHYET	6.0	4.0	unscreened	-	3881_5:68840856-68840856 G>A_TPSKRAPAKGRAERSKRTEQDHYET
12:48596948-48596948 C>T	0.0	3881	MELANOMA	-	-	-	-	OR10AD1	uc001rrl.1,p.G43D|NM_001004134,p.G43D|ENST00000310248,p.G43D	protein_coding	uc001rrl.1	nonsynonymous SNV	exon1	c.G128A	p.G43D	FLALYSLTMAMNGLIIFITSWTDPK	FLALYSLTMAMNDLIIFITSWTDPK	1.0	9.0	unscreened	-	3881_12:48596948-48596948 C>T_FLALYSLTMAMNDLIIFITSWTDPK
7:87772378-87772378 G>A	0.0	3881	MELANOMA	-	-	-	-	ADAM22	ENST00000265727,p.E420K|ENST00000398201,p.E420K|uc003ujm.3,p.E420K|NM_021723,p.E420K|NM_021722,p.E420K|uc003ujk.2,p.E420K|ENST00000398204,p.E420K|ENST00000315984,p.E420K|uc003ujo.3,p.E420K|uc003ujp.1,p.E472K|NM_004194,p.E420K|uc003ujn.3,p.E420K|ENST00000398203,p.E387K|NM_021721,p.E420K|ENST00000398209,p.E420K|uc003ujl.2,p.E420K|NM_016351,p.E420K	protein_coding, processed_transcript	uc003ujp.1	nonsynonymous SNV	exon14	c.G1414A	p.E472K	YYLPKKFTQCNIEEYHDFLNSGGGA	YYLPKKFTQCNIKEYHDFLNSGGGA	5.0	1.0	unscreened	-	3881_7:87772378-87772378 G>A_YYLPKKFTQCNIKEYHDFLNSGGGA
20:9561532-9561532 C>T	0.0	3881	MELANOMA	-	-	-	-	PAK7	uc010gby.1,p.G84S|NM_177990,p.G84S|ENST00000378423,p.G84S|uc002wnk.2,p.G84S|ENST00000378429,p.G84S|ENST00000353224,p.G84S|uc002wnj.2,p.G84S|uc002wnl.2,p.G84S|NM_020341,p.G84S	protein_coding	uc010gby.1	nonsynonymous SNV	exon4	c.G250A	p.G84S	RGNKPCKETSINGLLEDFDNISVTR	RGNKPCKETSINSLLEDFDNISVTR	1.0	1.0	unscreened	-	3881_20:9561532-9561532 C>T_RGNKPCKETSINSLLEDFDNISVTR
11:6048750-6048750 A>G	0.0	3881	MELANOMA	-	-	-	-	OR56A1	NM_001001917,p.L62P|uc010qzw.2,p.L62P|ENST00000316650,p.L62P	protein_coding	uc010qzw.2	nonsynonymous SNV	exon1	c.T185C	p.L62P	TTLLITIQLEASLHQPLYYLLSLLS	TTLLITIQLEASPHQPLYYLLSLLS	1.0	9.0	unscreened	-	3881_11:6048750-6048750 A>G_TTLLITIQLEASPHQPLYYLLSLLS
8:77763349-77763349 C>T	1.0	3881	MELANOMA	-	-	ID=COSM1101702;OCCURENCE=1(endometrium)	-	ZFHX4	NM_024721,p.R1398C|ENST00000050961,p.R1353C|ENST00000518282,p.R1372C|ENST00000455469,p.R1353C|ENST00000521891,p.R1398C|uc003yau.2,p.R1398C|uc003yaw.1,p.R1353C	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon9	c.C4057T	p.R1353C	PLSVSDRHVYKYRCNHCSLAFKTMQ	PLSVSDRHVYKYCCNHCSLAFKTMQ	7.0	4.0	unscreened	-	3881_8:77763349-77763349 C>T_PLSVSDRHVYKYCCNHCSLAFKTMQ
3:97806779-97806779 G>A	0.0	3881	MELANOMA	0.0005	-	-	-	OR5AC2	ENST00000358642,p.G255R|uc011bgs.2,p.G255R|NM_054106,p.G255R	protein_coding	uc011bgs.2	nonsynonymous SNV	exon1	c.G763A	p.G255R	CGAHLLSVSLYYGTLIFMYVRPASG	CGAHLLSVSLYYRTLIFMYVRPASG	1.0	10.0	unscreened	-	3881_3:97806779-97806779 G>A_CGAHLLSVSLYYRTLIFMYVRPASG
4:41984141-41984141 C>T	0.0	3881	MELANOMA	-	-	-	-	DCAF4L1	ENST00000333141,p.S111L|NM_001029955,p.S111L|uc003gwk.2,p.S111L	protein_coding	uc003gwk.2	nonsynonymous SNV	exon1	c.C332T	p.S111L	YGIISLRTLKIPSFHVYVLRNLYVP	YGIISLRTLKIPLFHVYVLRNLYVP	3.0	1.0	unscreened	-	3881_4:41984141-41984141 C>T_YGIISLRTLKIPLFHVYVLRNLYVP
9:113173752-113173752 G>A	0.0	3881	MELANOMA	-	-	-	-	SVEP1	ENST00000401783,p.A2080V|NM_153366,p.A2080V|ENST00000374469,p.A2057V|uc010mtz.3,p.A2080V	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon37	c.C6239T	p.A2080V	VPPEGQDMPRCIAHFCEKPPSVSYS	VPPEGQDMPRCIVHFCEKPPSVSYS	2.0	10.0	unscreened	-	3881_9:113173752-113173752 G>A_VPPEGQDMPRCIVHFCEKPPSVSYS
10:30318487-30318487 C>T	0.0	3881	MELANOMA	-	-	-	-	KIAA1462	ENST00000375377,p.R197K|uc009xle.2,p.R197K|NM_020848,p.R197K|uc001iuz.3,p.R59K|uc001iux.3,p.R197K	protein_coding, processed_transcript	uc009xle.2	nonsynonymous SNV	exon3	c.G590A	p.R197K	SLESWNQPRKLGRQMSDGDGERLFQ	SLESWNQPRKLGKQMSDGDGERLFQ	5.0	2.0	unscreened	-	3881_10:30318487-30318487 C>T_SLESWNQPRKLGKQMSDGDGERLFQ
10:96454688-96454688 C>T	0.0	3881	MELANOMA	-	-	-	-	CYP2C18	ENST00000339022,p.P166S|uc001kjw.4,p.P166S|ENST00000285979,p.P166S|NM_001128925,p.P166S|NM_000772,p.P166S|uc001kjv.4,p.P166S	protein_coding, processed_transcript	uc001kjw.4	nonsynonymous SNV	exon4	c.C496T	p.P166S	EELRKTNASPCDPTFILGCAPCNVI	EELRKTNASPCDSTFILGCAPCNVI	1.0	9.0	unscreened	-	3881_10:96454688-96454688 C>T_EELRKTNASPCDSTFILGCAPCNVI
8:36793413-36793413 C>T	0.0	3881	MELANOMA	-	-	-	-	KCNU1	ENST00000399881,p.P1142L|uc010lvw.3,p.P1142L|NM_001031836,p.P1142L	protein_coding, nonsense_mediated_decay	uc010lvw.3	nonsynonymous SNV	exon27	c.C3425T	p.P1142L	ERKTSDEVYDEDPFAYSEPL	ERKTSDEVYDEDLFAYSEPL	1.0	8.0	unscreened	-	3881_8:36793413-36793413 C>T_ERKTSDEVYDEDLFAYSEPL
19:8841822-8841822 G>A	0.0	3881	MELANOMA	-	-	-	-	OR2Z1	NM_001004699,p.M144I|ENST00000324060,p.M144I|uc010xkg.2,p.M144I	protein_coding	uc010xkg.2	nonsynonymous SNV	exon1	c.G432A	p.M144I	YPVLMRRQVCLLMMGSSWVVGVLNA	YPVLMRRQVCLLIMGSSWVVGVLNA	1.0	7.0	unscreened	-	3881_19:8841822-8841822 G>A_YPVLMRRQVCLLIMGSSWVVGVLNA
11:48285760-48285760 G>A	0.0	3881	MELANOMA	-	-	-	-	OR4X1	NM_001004726,p.M116I|ENST00000320048,p.M116I|uc010rht.2,p.M116I	protein_coding	uc010rht.2	nonsynonymous SNV	exon1	c.G348A	p.M116I	FFGGTEAFLLMVMAYDRYVAICKPL	FFGGTEAFLLMVIAYDRYVAICKPL	1.0	2.0	unscreened	-	3881_11:48285760-48285760 G>A_FFGGTEAFLLMVIAYDRYVAICKPL
22:46655946-46655946 C>T	1.0	3881	MELANOMA	-	-	-	-	PKDREJ	NM_006071,p.D1092N|ENST00000253255,p.D1092N|uc003bhh.3,p.D1092N	protein_coding	uc003bhh.3	nonsynonymous SNV	exon1	c.G3274A	p.D1092N	VLQAPRFVMKLNDKLVRISIFSVQC	VLQAPRFVMKLNNKLVRISIFSVQC	1.0	9.0	unscreened	-	3881_22:46655946-46655946 C>T_VLQAPRFVMKLNNKLVRISIFSVQC
19:9084244-9084244 G>A	0.0	3881	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.P2524L|NM_024690,p.P2524L|ENST00000397910,p.P2524L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C7571T	p.P2524L	TDLPAMGFLKTSPAGEAHSLLASTI	TDLPAMGFLKTSLAGEAHSLLASTI	1.0	5.0	unscreened	-	3881_19:9084244-9084244 G>A_TDLPAMGFLKTSLAGEAHSLLASTI
7:148979039-148979039 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF783	uc011kuo.2,p.R416C|NM_001195220,p.R416C|ENST00000434415,p.R416C	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kuo.2	nonsynonymous SNV	exon6	c.C1246T	p.R416C	PVIRWLPEEPEGRRSVAGGRALVGR	PVIRWLPEEPEGCRSVAGGRALVGR	8.0	9.0	-	-	3881_7:148979039-148979039 C>T_PVIRWLPEEPEGCRSVAGGRALVGR
6:43413364-43413364 C>T	1.0	3881	MELANOMA	-	-	-	-	ABCC10	uc003ouz.1,p.P992S|NM_033450,p.P992S|ENST00000244533,p.P992S|uc010jyo.1,p.P126S|NM_001198934,p.P1020S|uc003ouy.1,p.P1020S|ENST00000372530,p.P1020S	retained_intron, protein_coding, processed_transcript	uc010jyo.1	nonsynonymous SNV	exon9	c.C376T	p.P126S	VLMAPVTFFNATPTGRILNRFSSDV	VLMAPVTFFNATSTGRILNRFSSDV	7.0	2.0	unscreened	-	3881_6:43413364-43413364 C>T_VLMAPVTFFNATSTGRILNRFSSDV
8:125989784-125989784 C>T	1.0	3881	MELANOMA	-	-	ID=COSM286933;OCCURENCE=1(large_intestine)	-	ZNF572	NM_152412,p.S425F|ENST00000319286,p.S425F|uc003yrr.3,p.S425F	protein_coding	uc003yrr.3	nonsynonymous SNV	exon3	c.C1274T	p.S425F	RCSECWKTFSQSSTLVIHQRTHTGE	RCSECWKTFSQSFTLVIHQRTHTGE	4.0	6.0	unscreened	-	3881_8:125989784-125989784 C>T_RCSECWKTFSQSFTLVIHQRTHTGE
11:290997-290997 C>T	0.0	3881	MELANOMA	-	-	-	-	ATHL1	uc001los.1,p.L264F|uc001lor.4,p.L87F|ENST00000409655,p.L87F|uc010qvu.2,p.L264F|ENST00000409548,p.L264F|NM_025092,p.L264F|ENST00000409479,p.L264F	retained_intron, protein_coding, nonsense_mediated_decay	uc010qvu.2	nonsynonymous SNV	exon4	c.C790T	p.L264F	LRQALRGSLYYLLSALPQPKAPGYI	LRQALRGSLYYLFSALPQPKAPGYI	5.0	3.0	unscreened	-	3881_11:290997-290997 C>T_LRQALRGSLYYLFSALPQPKAPGYI
3:151458609-151458609 G>A	0.0	3881	MELANOMA	0.0005	-	ID=COSM1420021,COSM1420020;OCCURENCE=1(large_intestine)	-	AADACL2	ENST00000356517,p.R105Q|uc003ezc.3,p.R105Q|NM_207365,p.R105Q	protein_coding, nonsense_mediated_decay	uc003ezc.3	nonsynonymous SNV	exon2	c.G314A	p.R105Q	LYLPKRKSETRRRAVIYFHGGGFCF	LYLPKRKSETRRQAVIYFHGGGFCF	1.0	1.0	unscreened	-	3881_3:151458609-151458609 G>A_LYLPKRKSETRRQAVIYFHGGGFCF
16:56519580-56519580 G>A	1.0	3881	MELANOMA	-	-	-	-	BBS2	NM_031885,p.R661C|ENST00000245157,p.R661C|ENST00000568104,p.R615C|uc002ejd.2,p.R661C|ENST00000564459,p.R82C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ejd.2	nonsynonymous SNV	exon16	c.C1981T	p.R661C	DLNRDLLNGYKIRCNNHTELLGNLK	DLNRDLLNGYKICCNNHTELLGNLK	10.0	6.0	unscreened	-	3881_16:56519580-56519580 G>A_DLNRDLLNGYKICCNNHTELLGNLK
X:135431687-135431687 C>T	0.0	3881	MELANOMA	-	-	-	-	GPR112	ENST00000287534,p.P1878L|uc010nsb.1,p.P1736L|ENST00000394141,p.P1736L|ENST00000370652,p.P1941L|ENST00000394143,p.P1941L|ENST00000412101,p.P1736L|uc010nsc.1,p.P1708L|NM_153834,p.P1941L|uc004ezu.1,p.P1941L	protein_coding	uc010nsc.1	nonsynonymous SNV	exon1	c.C5123T	p.P1708L	LVSKDVMAMSSIPMSGILPNHGLSE	LVSKDVMAMSSILMSGILPNHGLSE	1.0	9.0	unscreened	-	3881_X:135431687-135431687 C>T_LVSKDVMAMSSILMSGILPNHGLSE
2:204037530-204037530 C>T	1.0	3881	MELANOMA	-	-	-	-	NBEAL1	uc021vvj.1,p.P767S|ENST00000449802,p.P2064S|NM_001114132,p.P2064S|ENST00000414576,p.P79S|uc002uzt.3,p.P2064S	retained_intron, protein_coding, processed_transcript	uc021vvj.1	nonsynonymous SNV	exon14	c.C2299T	p.P767S	LNNPAVFRDLSKPIGVVNEKNAKAM	LNNPAVFRDLSKSIGVVNEKNAKAM	6.0	2.0	unscreened	-	3881_2:204037530-204037530 C>T_LNNPAVFRDLSKSIGVVNEKNAKAM
5:176883106-176883106 G>A	0.0	3881	MELANOMA	-	-	-	-	PRR7	uc003mgv.2,p.R270K|NM_001174102,p.R270K|uc003mgw.2,p.R270K|uc003mgu.2,p.R270K|NM_030567,p.R270K|NM_001174101,p.R270K|ENST00000502922,p.R270K|ENST00000323249,p.R270K|ENST00000510492,p.R270K	protein_coding	uc003mgw.2	nonsynonymous SNV	exon3	c.G809A	p.R270K	AWRLPVSIPLFGRTTAV	AWRLPVSIPLFGKTTAV	5.0	5.0	unscreened	-	3881_5:176883106-176883106 G>A_AWRLPVSIPLFGKTTAV
17:7559082-7559082 T>C	0.0	3881	MELANOMA	-	-	-	-	ATP1B2	NM_001678,p.F248L|uc002gif.1,p.F248L|ENST00000250111,p.F248L	protein_coding	uc002gif.1	nonsynonymous SNV	exon7	c.T742C	p.F248L	HVNYTQPLVAVKFLNVTPNVEVNVE	HVNYTQPLVAVKLLNVTPNVEVNVE	4.0	6.0	unscreened	-	3881_17:7559082-7559082 T>C_HVNYTQPLVAVKLLNVTPNVEVNVE
7:97482454-97482454 C>T	1.0	3881	MELANOMA	-	-	-	-	ASNS	NM_001673,p.R465Q|uc003uov.4,p.R465Q|ENST00000444334,p.R444Q|uc003uox.4,p.R382Q|ENST00000422745,p.R444Q|ENST00000437628,p.R382Q|NM_183356,p.R465Q|ENST00000394308,p.R465Q|uc011kin.2,p.R382Q|NM_001178075,p.R444Q|uc003uou.4,p.R465Q|NM_001178076,p.R382Q|uc003uot.4,p.R465Q|NM_133436,p.R465Q|NM_001178077,p.R382Q|ENST00000455086,p.R382Q|ENST00000175506,p.R465Q|uc011kio.2,p.R444Q|ENST00000394309,p.R465Q	retained_intron, protein_coding, nonsense_mediated_decay	uc011kio.2	nonsynonymous SNV	exon12	c.G1331A	p.R444Q	EDSNLIPKEILWRPKEAFSDGITSV	EDSNLIPKEILWQPKEAFSDGITSV	6.0	9.0	-	-	3881_7:97482454-97482454 C>T_EDSNLIPKEILWQPKEAFSDGITSV
7:100839345-100839345 G>A	0.0	3881	MELANOMA	-	-	-	-	MOGAT3	ENST00000440203,p.P332S	protein_coding	ENST00000440203	nonsynonymous SNV	exon6	c.C994T	p.P332S	WAAPSPSPSASTPPRRKSITITPST	WAAPSPSPSASTSPRRKSITITPST	1.0	4.0	unscreened	-	3881_7:100839345-100839345 G>A_WAAPSPSPSASTSPRRKSITITPST
7:48314598-48314598 C>T	0.0	3881	MELANOMA	-	-	-	-	ABCA13	uc022acp.1,p.H278Y|uc010kyr.2,p.H1282Y|NM_152701,p.H1779Y|uc003toq.2,p.H1779Y|ENST00000435803,p.H1779Y	retained_intron, protein_coding, nonsense_mediated_decay	uc022acp.1	nonsynonymous SNV	exon1	c.C832T	p.H278Y	EGLKDVYSFTLLHGITISNITKEDF	EGLKDVYSFTLLYGITISNITKEDF	1.0	8.0	unscreened	-	3881_7:48314598-48314598 C>T_EGLKDVYSFTLLYGITISNITKEDF
8:11412372-11412372 T>C	0.0	3881	MELANOMA	-	-	-	-	BLK	NM_001715,p.L198P|uc003wty.3,p.L198P|ENST00000259089,p.L198P|ENST00000529894,p.L127P	retained_intron, protein_coding, processed_transcript	uc003wty.3	nonsynonymous SNV	exon7	c.T593C	p.L198P	GYYISPRITFPSLQALVQHYSKKGD	GYYISPRITFPSPQALVQHYSKKGD	4.0	6.0	unscreened	-	3881_8:11412372-11412372 T>C_GYYISPRITFPSPQALVQHYSKKGD
19:9083908-9083908 G>A	0.0	3881	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.S2636F|uc002mkp.3,p.S2636F|NM_024690,p.S2636F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C7907T	p.S2636F	TPPSKFPSTGTLSGASFPTLLPDTP	TPPSKFPSTGTLFGASFPTLLPDTP	1.0	1.0	unscreened	-	3881_19:9083908-9083908 G>A_TPPSKFPSTGTLFGASFPTLLPDTP
10:33143366-33143366 G>A	0.0	3881	MELANOMA	-	-	-	-	CCDC7	NM_024688,p.E597K|uc001iwn.4,p.E597K|ENST00000375028,p.E601K|uc001iwl.1,p.E556K|ENST00000302316,p.E597K|ENST00000375025,p.E661K|uc010qei.1,p.E573K|ENST00000375030,p.E556K|uc001iwm.1,p.E601K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qei.1	nonsynonymous SNV	exon20	c.G1717A	p.E573K	HSKVVTLSQKTIEFTLPTVTNTVGK	HSKVVTLSQKTIKFTLPTVTNTVGK	3.0	10.0	unscreened	-	3881_10:33143366-33143366 G>A_HSKVVTLSQKTIKFTLPTVTNTVGK
5:134678919-134678919 T>A	1.0	3881	MELANOMA	-	-	-	-	C5orf66	NM_001277348,p.H67Q|uc003laj.2,p.H67Q|ENST00000432382,p.H67Q	protein_coding	uc003laj.2	nonsynonymous SNV	exon6	c.T201A	p.H67Q	TIMGHVCAERHTHDRYVTSMCPYLP	TIMGHVCAERHTQDRYVTSMCPYLP	2.0	3.0	unscreened	-	3881_5:134678919-134678919 T>A_TIMGHVCAERHTQDRYVTSMCPYLP
7:2951889-2951889 C>T	0.0	3881	MELANOMA	-	-	-	1	CARD11	NM_032415,p.E1021K|uc003smv.3,p.E1021K|ENST00000396946,p.E1021K	retained_intron, protein_coding	uc003smv.3	nonsynonymous SNV	exon23	c.G3061A	p.E1021K	VTRDEFLRRQKTETIIYSREKNPNA	VTRDEFLRRQKTKTIIYSREKNPNA	5.0	10.0	unscreened	-	3881_7:2951889-2951889 C>T_VTRDEFLRRQKTKTIIYSREKNPNA
X:128722907-128722907 G>A	0.0	3881	MELANOMA	-	-	-	-	OCRL	uc004eur.3,p.E788K|uc004euq.3,p.E796K|ENST00000371113,p.E796K|NM_000276,p.E796K|ENST00000357121,p.E788K|NM_001587,p.E788K	protein_coding, processed_transcript	uc004eur.3	nonsynonymous SNV	exon21	c.G2362A	p.E788K	NHSVAEALLIFLEALPEPVICYELY	NHSVAEALLIFLKALPEPVICYELY	7.0	4.0	unscreened	-	3881_X:128722907-128722907 G>A_NHSVAEALLIFLKALPEPVICYELY
3:164906064-164906064 C>T	0.0	3881	MELANOMA	-	-	ID=COSM107120;OCCURENCE=1(skin)	-	SLITRK3	uc003fek.3,p.G852E|uc003fej.4,p.G852E|ENST00000241274,p.G852E|uc021xgy.1,p.G852E|NM_014926,p.G852E|ENST00000475390,p.G852E	protein_coding	uc021xgy.1	nonsynonymous SNV	exon1	c.G2555A	p.G852E	HPAVGGVSGVVGGTGGDLAGFRHHE	HPAVGGVSGVVGETGGDLAGFRHHE	1.0	9.0	unscreened	-	3881_3:164906064-164906064 C>T_HPAVGGVSGVVGETGGDLAGFRHHE
6:42891009-42891009 C>T	0.0	3881	MELANOMA	-	-	-	-	PTCRA	uc010jxx.1,p.P62L|uc011duz.1,p.P112L	protein_coding	uc011duz.1	nonsynonymous SNV	exon3	c.C335T	p.P112L	WPISPCLLRSWHPGSLWSATLGLGL	WPISPCLLRSWHLGSLWSATLGLGL	3.0	1.0	unscreened	-	3881_6:42891009-42891009 C>T_WPISPCLLRSWHLGSLWSATLGLGL
10:50530762-50530762 G>A	0.0	3881	MELANOMA	-	-	-	-	C10orf71	NM_001135196,p.D58N|uc021pqb.1,p.D58N|ENST00000323868,p.D58N|ENST00000374144,p.D58N|uc021pqa.2,p.D58N	protein_coding, processed_transcript	uc021pqb.1	nonsynonymous SNV	exon1	c.G172A	p.D58N	TSFHDSYLAVSPDITRQVFGTFHQR	TSFHDSYLAVSPNITRQVFGTFHQR	1.0	8.0	unscreened	-	3881_10:50530762-50530762 G>A_TSFHDSYLAVSPNITRQVFGTFHQR
11:17449426-17449426 G>A	0.0	3881	MELANOMA	-	-	-	-	ABCC8	ENST00000389817,p.R702C|uc001mnc.3,p.R702C|NM_000352,p.R702C|ENST00000302539,p.R702C|ENST00000527905,p.R692C|NM_001287174,p.R702C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mnc.3	nonsynonymous SNV	exon15	c.C2104T	p.R702C	PDGIPTLSNITIRIPRGQLTMIVGQ	PDGIPTLSNITICIPRGQLTMIVGQ	1.0	1.0	unscreened	-	3881_11:17449426-17449426 G>A_PDGIPTLSNITICIPRGQLTMIVGQ
3:151156290-151156290 T>A	1.0	3881	MELANOMA	-	-	-	-	IGSF10	NM_178822,p.N2020I|ENST00000282466,p.N2020I|NM_001178145,p.N47I|uc011bob.2,p.N47I|uc011bod.2,p.N2020I	protein_coding, processed_transcript	uc011bod.2	nonsynonymous SNV	exon6	c.A6059T	p.N2020I	EKDSGVYLCVARNKMGDDLILMHVS	EKDSGVYLCVARIKMGDDLILMHVS	4.0	9.0	-	-	3881_3:151156290-151156290 T>A_EKDSGVYLCVARIKMGDDLILMHVS
4:145038050-145038050 C>T	0.0	3881	MELANOMA	-	-	-	-	GYPA	uc010ior.3,p.G40E|uc010ios.2,p.G60E|uc031shj.1,p.G105E|uc031shf.1,p.G27E|uc010ioq.3,p.G92E|ENST00000512064,p.G92E|ENST00000535709,p.G79E|ENST00000504786,p.G73E|ENST00000503627,p.G60E|ENST00000324022,p.G72E|uc011cib.2,p.G72E|uc031she.1,p.G72E|ENST00000512789,p.G40E|uc003ijo.4,p.G105E|ENST00000360771,p.G105E|uc003ijp.4,p.G73E|NM_002099,p.G105E	retained_intron, protein_coding, nonsense_mediated_decay	uc031shj.1	nonsynonymous SNV	exon5	c.G314A	p.G105E	TLIIFGVMAGVIGTILLISYGIRRL	TLIIFGVMAGVIETILLISYGIRRL	1.0	1.0	unscreened	-	3881_4:145038050-145038050 C>T_TLIIFGVMAGVIETILLISYGIRRL
16:66997-66997 A>C	1.0	3881	MELANOMA	-	-	-	-	MIR6859-1,MIR6859-2	uc002cfg.1,p.H213Q|ENST00000326592,p.H213Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002cfg.1	nonsynonymous SNV	exon5	c.T639G	p.H213Q	FLDPLAGAVTKTHVMLGAETEEKLF	FLDPLAGAVTKTQVMLGAETEEKLF	6.0	1.0	unscreened	-	3881_16:66997-66997 A>C_FLDPLAGAVTKTQVMLGAETEEKLF
8:39468112-39468112 G>A	0.0	3881	MELANOMA	-	-	-	-	ADAM18	ENST00000379866,p.E137K|NM_014237,p.E137K|uc003xnh.3,p.E137K|uc010lwx.3,p.E137K|ENST00000520772,p.E137K|uc003xni.3,p.E137K|NM_001190956,p.E137K|ENST00000265707,p.E137K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lwx.3	nonsynonymous SNV	exon6	c.G409A	p.E137K	YGIEPVESSARFEHIIYQMKNNDPN	YGIEPVESSARFKHIIYQMKNNDPN	1.0	6.0	unscreened	-	3881_8:39468112-39468112 G>A_YGIEPVESSARFKHIIYQMKNNDPN
4:189012801-189012801 C>T	0.0	3881	MELANOMA	-	-	-	-	TRIML2	ENST00000326754,p.G322E|ENST00000512729,p.G297E|uc003izl.2,p.G297E|uc003izj.1,p.G125E|uc003izk.1,p.G105E|uc011cle.1,p.G372E|NM_173553,p.G297E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cle.1	nonsynonymous SNV	exon8	c.G1115A	p.G372E	SGEKVLLTGSVMGTEWTLWVFPPLK	SGEKVLLTGSVMETEWTLWVFPPLK	1.0	1.0	unscreened	-	3881_4:189012801-189012801 C>T_SGEKVLLTGSVMETEWTLWVFPPLK
18:31685096-31685096 C>T	0.0	3881	MELANOMA	-	-	-	-	NOL4	ENST00000538587,p.R74K|uc010xbt.2,p.R74K|NM_001198546,p.R148K|NM_001198547,p.R74K|ENST00000269185,p.R34K|uc002kxt.4,p.R148K|ENST00000590712,p.R132K|uc010dmi.3,p.R148K|uc010xbu.2,p.R148K|NM_001198548,p.R148K|uc010dmh.3,p.R74K|ENST00000261592,p.R148K|ENST00000589544,p.R148K|NM_003787,p.R148K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xbu.2	nonsynonymous SNV	exon3	c.G443A	p.R148K	YKAISESYAFLPREAVTRFLMSCSE	YKAISESYAFLPKEAVTRFLMSCSE	1.0	6.0	unscreened	-	3881_18:31685096-31685096 C>T_YKAISESYAFLPKEAVTRFLMSCSE
11:19247144-19247144 G>A	0.0	3881	MELANOMA	-	-	-	-	E2F8	uc001mpm.3,p.S682L|ENST00000250024,p.S682L|NM_001256371,p.S682L|ENST00000527884,p.S682L|uc001mpn.5,p.S682L|NM_024680,p.S682L|uc001mpo.2,p.S682L|NM_001256372,p.S682L	protein_coding, processed_transcript	uc001mpo.2	nonsynonymous SNV	exon12	c.C2045T	p.S682L	YSSPIAGVIPVTSSELTAVNFPSFH	YSSPIAGVIPVTLSELTAVNFPSFH	5.0	2.0	unscreened	-	3881_11:19247144-19247144 G>A_YSSPIAGVIPVTLSELTAVNFPSFH
20:52790103-52790103 T>G	0.0	3881	MELANOMA	-	-	-	-	CYP24A1	ENST00000216862,p.S6R|NM_000782,p.S6R|uc002xww.2,p.S6R|uc002xwv.2,p.S6R|ENST00000395955,p.S6R|NM_001128915,p.S6R	protein_coding, processed_transcript	uc002xww.2	nonsynonymous SNV	exon1	c.A16C	p.S6R	MSSPISKSRSLAAFLQQL	MSSPIRKSRSLAAFLQQL	3.0	8.0	unscreened	-	3881_20:52790103-52790103 T>G_MSSPIRKSRSLAAFLQQL
11:6024185-6024185 G>A	0.0	3881	MELANOMA	-	-	-	-	OR56A4	ENST00000330728,p.S65F|NM_001005179,p.S65F|uc010qzv.2,p.S65F	protein_coding	uc010qzv.2	nonsynonymous SNV	exon1	c.C194T	p.S65F	MASPSNDSTAPVSEFLLICFPNFQS	MASPSNDSTAPVFEFLLICFPNFQS	1.0	3.0	unscreened	-	3881_11:6024185-6024185 G>A_MASPSNDSTAPVFEFLLICFPNFQS
19:50333771-50333771 C>T	1.0	3881	MELANOMA	-	-	-	-	MED25	ENST00000538643,p.P62S|uc010ybe.2,p.P62S	retained_intron, protein_coding	uc010ybe.2	nonsynonymous SNV	exon3	c.C184T	p.P62S	GPPAETDFGGDVPGNLSAAQVAAQN	GPPAETDFGGDVSGNLSAAQVAAQN	9.0	4.0	unscreened	-	3881_19:50333771-50333771 C>T_GPPAETDFGGDVSGNLSAAQVAAQN
6:31541175-31541175 T>G	0.0	3881	MELANOMA	-	-	-	-	LTA	uc003nug.3,p.F55C	retained_intron, protein_coding	uc003nug.3	nonsynonymous SNV	exon2	c.T164G	p.F55C	NNSLLVPTSGIYFVYSQLPEDGVSR	NNSLLVPTSGIYCVYSQLPEDGVSR	3.0	4.0	unscreened	-	3881_6:31541175-31541175 T>G_NNSLLVPTSGIYCVYSQLPEDGVSR
1:186141230-186141230 G>A	1.0	3881	MELANOMA	-	-	-	-	HMCN1	ENST00000367492,p.G5261R|uc001grs.1,p.G830R|NM_031935,p.G5261R|ENST00000271588,p.G5261R|ENST00000414277,p.G53R|uc001grq.1,p.G5261R	protein_coding, processed_transcript	uc001grs.1	nonsynonymous SNV	exon20	c.G2488A	p.G830R	RGGYKCIDLCPNGMTKAENGTCIDI	RGGYKCIDLCPNRMTKAENGTCIDI	10.0	10.0	-	-	3881_1:186141230-186141230 G>A_RGGYKCIDLCPNRMTKAENGTCIDI
19:1466188-1466188 G>A	0.0	3881	MELANOMA	-	-	-	-	APC2	NM_005883,p.R963Q|ENST00000535453,p.R963Q|uc002lst.1,p.R963Q|uc002lsu.1,p.R962Q|uc002lss.1,p.R545Q|ENST00000233607,p.R963Q|ENST00000238483,p.R689Q|uc002lsr.1,p.R963Q	retained_intron, protein_coding	uc002lsu.1	nonsynonymous SNV	exon14	c.G2885A	p.R962Q	ASRREDPRCGQPRPSRLDLDLPGCQ	ASRREDPRCGQPQPSRLDLDLPGCQ	1.0	10.0	unscreened	-	3881_19:1466188-1466188 G>A_ASRREDPRCGQPQPSRLDLDLPGCQ
5:43161961-43161961 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF131	uc003jnj.4,p.H49Y|uc003jnn.4,p.H49Y|NM_003432,p.H294Y|uc010ivl.1,p.H294Y|ENST00000509156,p.H328Y|NM_001297548,p.H328Y|ENST00000505606,p.H294Y|ENST00000306938,p.H294Y|uc003jnk.3,p.H294Y|ENST00000399534,p.H328Y|uc011cpw.2,p.H328Y|ENST00000509634,p.H294Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cpw.2	nonsynonymous SNV	exon5	c.C982T	p.H328Y	GVSKKQRTGKKIHVCQYCEKQFDHF	GVSKKQRTGKKIYVCQYCEKQFDHF	10.0	2.0	unscreened	-	3881_5:43161961-43161961 C>T_GVSKKQRTGKKIYVCQYCEKQFDHF
3:170216647-170216647 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC7A14	ENST00000231706,p.L190F|uc003fgz.2,p.L190F|NM_020949,p.L190F	protein_coding, processed_transcript	uc003fgz.2	nonsynonymous SNV	exon4	c.C568T	p.L190F	NGLGKGEESYPDLLALLIAVIVTII	NGLGKGEESYPDFLALLIAVIVTII	1.0	2.0	unscreened	-	3881_3:170216647-170216647 G>A_NGLGKGEESYPDFLALLIAVIVTII
4:164393140-164393140 C>T	0.0	3881	MELANOMA	-	-	-	-	TKTL2	uc003iqp.4,p.E583K|ENST00000280605,p.E583K|NM_032136,p.E583K	protein_coding	uc003iqp.4	nonsynonymous SNV	exon1	c.G1747A	p.E583K	GIGEAVCAAVSREPDILVHQLAVSG	GIGEAVCAAVSRKPDILVHQLAVSG	1.0	1.0	unscreened	-	3881_4:164393140-164393140 C>T_GIGEAVCAAVSRKPDILVHQLAVSG
14:23829184-23829184 G>A	0.0	3881	MELANOMA	-	-	-	-	EFS	ENST00000351354,p.S75F|NM_032459,p.S75F|ENST00000216733,p.S168F|uc001wjp.4,p.S75F|NM_001277174,p.S75F|uc010tnm.3,p.S75F|uc001wjo.4,p.S168F|ENST00000429593,p.S75F|NM_005864,p.S168F	protein_coding	uc010tnm.3	nonsynonymous SNV	exon3	c.C224T	p.S75F	RVPSSGPYDCPASFSHPLTRVAPQP	RVPSSGPYDCPAFFSHPLTRVAPQP	2.0	2.0	unscreened	-	3881_14:23829184-23829184 G>A_RVPSSGPYDCPAFFSHPLTRVAPQP
5:13931317-13931317 G>A	0.0	3881	MELANOMA	-	-	-	-	DNAH5	uc003jfd.2,p.L32F|NM_001369,p.L32F|ENST00000265104,p.L32F	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon2	c.C94T	p.L32F	QRLKGEKEAKRALLDARHNYLFAIV	QRLKGEKEAKRAFLDARHNYLFAIV	1.0	4.0	unscreened	-	3881_5:13931317-13931317 G>A_QRLKGEKEAKRAFLDARHNYLFAIV
3:111603370-111603370 C>T	0.0	3881	MELANOMA	-	-	-	-	PHLDB2	ENST00000478922,p.S149F|uc003dye.4,p.S149F|uc003dyc.3,p.S176F|NM_145753,p.S149F|ENST00000393923,p.S176F|NM_001134437,p.S176F|uc003dyf.4,p.S149F|NM_001134438,p.S149F|ENST00000412622,p.S149F|uc003dyg.3,p.S149F|NM_001134439,p.S149F|ENST00000481953,p.S149F|ENST00000431670,p.S149F|ENST00000498699,p.S149F|uc003dyd.3,p.S149F|ENST00000393925,p.S149F|uc010hqa.3,p.S149F|ENST00000477695,p.S149F|uc003dyh.3,p.S149F	retained_intron, protein_coding, processed_transcript	uc010hqa.3	nonsynonymous SNV	exon2	c.C446T	p.S149F	ERALRLSEKPPYSKYSSRHKSHDNV	ERALRLSEKPPYFKYSSRHKSHDNV	6.0	10.0	unscreened	-	3881_3:111603370-111603370 C>T_ERALRLSEKPPYFKYSSRHKSHDNV
5:1403135-1403135 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC6A3	NM_001044,p.A557T|uc003jck.3,p.A557T|ENST00000270349,p.A557T|ENST00000453492,p.A557T	retained_intron, protein_coding	uc003jck.3	nonsynonymous SNV	exon13	c.G1669A	p.A557T	PPHYGAYIFPDWANALGWVIATSSM	PPHYGAYIFPDWTNALGWVIATSSM	1.0	7.0	unscreened	-	3881_5:1403135-1403135 C>T_PPHYGAYIFPDWTNALGWVIATSSM
2:219695023-219695023 G>A	0.0	3881	MELANOMA	-	-	-	-	PRKAG3	ENST00000439262,p.P79L|uc010zko.1,p.P100L|NM_017431,p.P104L|uc002vjb.1,p.P104L|uc010fvy.1,p.P104L|ENST00000392098,p.P104L|ENST00000470307,p.P104L|ENST00000233944,p.P104L|ENST00000529249,p.P104L	retained_intron, protein_coding, nonsense_mediated_decay	uc010zko.1	nonsynonymous SNV	exon4	c.C299T	p.P100L	TFPKTTPLAQADPAGVGTPPTGWDC	TFPKTTPLAQADLAGVGTPPTGWDC	1.0	9.0	unscreened	-	3881_2:219695023-219695023 G>A_TFPKTTPLAQADLAGVGTPPTGWDC
3:38751016-38751016 G>T	0.0	3881	MELANOMA	-	-	ID=COSM1670068;OCCURENCE=1(lung)	-	SCN10A	uc003ciq.3,p.L1412I|NM_006514,p.L1412I|ENST00000449082,p.L1412I|NM_001293306,p.L1411I|NM_001293307,p.L1314I	protein_coding	uc003ciq.3	nonsynonymous SNV	exon24	c.C4234A	p.L1412I	IFIIFGGFFTLNLFVGVIIDNFNQQ	IFIIFGGFFTLNIFVGVIIDNFNQQ	1.0	9.0	unscreened	-	3881_3:38751016-38751016 G>T_IFIIFGGFFTLNIFVGVIIDNFNQQ
14:105355912-105355912 C>T	1.0	3881	MELANOMA	-	-	-	-	CEP170B	ENST00000453495,p.S1268F|uc001yps.3,p.S1197F|NM_015005,p.S1197F|ENST00000556508,p.S1197F	retained_intron, protein_coding	uc001yps.3	nonsynonymous SNV	exon12	c.C3590T	p.S1197F	SDYTSTSEEEYGSRHGSPKHTRSHT	SDYTSTSEEEYGFRHGSPKHTRSHT	8.0	5.0	unscreened	-	3881_14:105355912-105355912 C>T_SDYTSTSEEEYGFRHGSPKHTRSHT
X:144905886-144905886 A>G	0.0	3881	MELANOMA	-	-	-	-	SLITRK2	ENST00000428560,p.K648R|ENST00000370490,p.K648R|NM_001144010,p.K648R|uc004fcg.3,p.K648R|uc011mwt.2,p.K648R|NM_001144003,p.K648R|NM_001144008,p.K648R|uc010nsp.3,p.K648R|NM_032539,p.K648R|uc004fcd.3,p.K648R|uc011mwq.2,p.K648R|ENST00000335565,p.K648R|uc011mws.2,p.K648R|NM_001144006,p.K648R|uc022cfn.1,p.K648R|ENST00000413937,p.K648R|NM_001144009,p.K648R|uc011mwr.2,p.K648R|ENST00000434188,p.K648R|uc010nso.3,p.K648R|NM_001144005,p.K648R|NM_001144004,p.K648R|ENST00000447897,p.K648R	protein_coding	uc022cfn.1	nonsynonymous SNV	exon1	c.A1943G	p.K648R	GAGLFVFVLKRRKGVPSVPRNTNNL	GAGLFVFVLKRRRGVPSVPRNTNNL	5.0	5.0	unscreened	-	3881_X:144905886-144905886 A>G_GAGLFVFVLKRRRGVPSVPRNTNNL
19:18960987-18960987 C>T	1.0	3881	MELANOMA	-	-	-	-	UPF1	NM_001297549,p.R189C|NM_002911,p.R189C|uc002nkf.3,p.R189C|ENST00000262803,p.R189C|ENST00000599848,p.R189C|uc002nkg.3,p.R189C	retained_intron, protein_coding, processed_transcript	uc002nkg.3	nonsynonymous SNV	exon4	c.C565T	p.R189C	GETVLECYNCGCRNVFLLGFIPAKA	GETVLECYNCGCCNVFLLGFIPAKA	8.0	5.0	unscreened	-	3881_19:18960987-18960987 C>T_GETVLECYNCGCCNVFLLGFIPAKA
11:117374667-117374667 G>A	0.0	3881	MELANOMA	-	-	-	-	DSCAML1	ENST00000527706,p.S541L|uc001prh.1,p.S811L|NM_020693,p.S811L|ENST00000321322,p.S811L	protein_coding	uc001prh.1	nonsynonymous SNV	exon11	c.C2432T	p.S811L	PLTGRIQILPNSSLLIRHVLEEDIG	PLTGRIQILPNSLLLIRHVLEEDIG	1.0	7.0	unscreened	-	3881_11:117374667-117374667 G>A_PLTGRIQILPNSLLLIRHVLEEDIG
11:4824836-4824836 G>A	0.0	3881	MELANOMA	-	-	-	-	OR52R1	uc021qcs.1,p.L259F|NM_001005177,p.L259F|ENST00000356069,p.L259F|ENST00000380382,p.L338F	protein_coding	uc021qcs.1	nonsynonymous SNV	exon1	c.C775T	p.L259F	HICVILALYIPALFSFLTYRFGHDV	HICVILALYIPAFFSFLTYRFGHDV	1.0	8.0	unscreened	-	3881_11:4824836-4824836 G>A_HICVILALYIPAFFSFLTYRFGHDV
1:12569046-12569046 G>A	1.0	3881	MELANOMA	-	-	-	-	VPS13D	ENST00000356315,p.E4354K|uc001atw.3,p.E4354K|ENST00000358136,p.E4379K|uc001atv.3,p.E4379K|ENST00000543766,p.E377K|uc010obd.2,p.E377K|uc001atx.3,p.E3566K|NM_018156,p.E4354K|ENST00000471923,p.E35K|NM_015378,p.E4379K|ENST00000543710,p.E183K	protein_coding, processed_transcript	uc010obd.2	nonsynonymous SNV	exon8	c.G1129A	p.E377K	LYYEQQLMLRLSENREQLELDS	LYYEQQLMLRLSKNREQLELDS	8.0	3.0	unscreened	-	3881_1:12569046-12569046 G>A_LYYEQQLMLRLSKNREQLELDS
8:124346560-124346560 G>A	1.0	3881	MELANOMA	-	-	-	-	ATAD2	uc011lii.2,p.R863C|ENST00000287394,p.R1072C|ENST00000521903,p.R390C|NM_014109,p.R1072C|uc003yqh.4,p.R1072C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lii.2	nonsynonymous SNV	exon23	c.C2587T	p.R863C	ALEYNPDRDPGDRLIRHRACALRDT	ALEYNPDRDPGDCLIRHRACALRDT	8.0	5.0	unscreened	-	3881_8:124346560-124346560 G>A_ALEYNPDRDPGDCLIRHRACALRDT
11:74904466-74904466 G>A	0.0	3881	MELANOMA	-	-	-	-	SLCO2B1	uc001owd.3,p.V405M|uc001owc.3,p.V200M|ENST00000289575,p.V427M|uc010rrs.2,p.V311M|NM_001145211,p.V405M|ENST00000341411,p.V200M|uc010rrq.2,p.V172M|ENST00000532236,p.V311M|ENST00000525650,p.V283M|uc001owb.3,p.V427M|ENST00000428359,p.V405M|ENST00000454962,p.V200M|NM_001145212,p.V283M|uc010rrr.2,p.V283M|ENST00000531756,p.V172M|NM_007256,p.V427M	retained_intron, protein_coding, processed_transcript, TEC	uc010rrs.2	nonsynonymous SNV	exon7	c.G931A	p.V311M	CLSFPSVIVGIVVGGVLVKRLHLGP	CLSFPSVIVGIVMGGVLVKRLHLGP	7.0	3.0	unscreened	-	3881_11:74904466-74904466 G>A_CLSFPSVIVGIVMGGVLVKRLHLGP
3:93803129-93803129 C>T	1.0	3881	MELANOMA	-	-	ID=COSM110416;OCCURENCE=1(skin)	-	NSUN3	ENST00000314622,p.P101S|NM_022072,p.P101S|uc003drl.1,p.P101S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003drl.1	nonsynonymous SNV	exon3	c.C301T	p.P101S	VKCYLSRTPGRIPSERHQIGNLKKY	VKCYLSRTPGRISSERHQIGNLKKY	7.0	1.0	unscreened	-	3881_3:93803129-93803129 C>T_VKCYLSRTPGRISSERHQIGNLKKY
4:1643252-1643252 G>A	1.0	3881	MELANOMA	-	-	-	-	FAM53A	NM_001174070,p.S322F|ENST00000308132,p.S322F|uc021xkk.1,p.S322F|uc021xkl.1,p.S322F|ENST00000461064,p.S322F|ENST00000472884,p.S322F|NM_001013622,p.S322F	retained_intron, protein_coding	uc021xkl.1	nonsynonymous SNV	exon5	c.C965T	p.S322F	DDEDDTPVKTVLSSPCDSRGLPGIT	DDEDDTPVKTVLFSPCDSRGLPGIT	4.0	10.0	-	-	3881_4:1643252-1643252 G>A_DDEDDTPVKTVLFSPCDSRGLPGIT
3:46900986-46900986 G>A	0.0	3881	MELANOMA	-	-	-	-	MYL3	ENST00000292327,p.R154C|NM_000258,p.R154C|ENST00000395869,p.R154C|uc003cql.1,p.R154C	protein_coding	uc003cql.1	nonsynonymous SNV	exon4	c.C460T	p.R154C	KEGNGTVMGAELRHVLATLGERLTE	KEGNGTVMGAELCHVLATLGERLTE	1.0	10.0	unscreened	-	3881_3:46900986-46900986 G>A_KEGNGTVMGAELCHVLATLGERLTE
X:79984340-79984340 G>A	0.0	3881	MELANOMA	-	-	-	-	BRWD3	uc004eea.3,p.R103C|uc004edz.3,p.R103C|NM_153252,p.R433C|uc004edv.3,p.R29C|uc004edp.3,p.R262C|uc004edu.3,p.R103C|uc004edw.3,p.R29C|uc004eeb.3,p.R29C|uc004edy.3,p.R29C|uc004eds.3,p.R29C|uc004edx.3,p.R29C|uc004edq.3,p.R29C|ENST00000373275,p.R433C|uc004edt.3,p.R433C|uc004edr.3,p.R103C|uc010nmj.2,p.R29C|uc004edo.3,p.R29C	protein_coding, processed_transcript	uc010nmj.2	nonsynonymous SNV	exon9	c.C85T	p.R29C	ITKLKVTMVAWDRYDTTVITAVNNF	ITKLKVTMVAWDCYDTTVITAVNNF	8.0	4.0	unscreened	-	3881_X:79984340-79984340 G>A_ITKLKVTMVAWDCYDTTVITAVNNF
14:64749442-64749442 G>A	0.0	3881	MELANOMA	-	-	-	-	ESR2	ENST00000556275,p.P88S|ENST00000553796,p.P88S|uc001xha.1,p.P88S|ENST00000357782,p.P88S|NM_001437,p.P88S|NM_001214902,p.P88S|uc001xgz.2,p.P88S|NM_001271876,p.P88S|NM_001271877,p.P88S|uc001xgu.3,p.P88S|ENST00000542956,p.P88S|ENST00000555278,p.P88S|ENST00000267525,p.P88S|uc010aqc.1,p.P88S|ENST00000341099,p.P88S|uc001xgx.3,p.P88S|NM_001291723,p.P88S|NM_001291712,p.P88S|uc031qoy.1,p.P88S|uc001xgv.3,p.P88S|NM_001040275,p.P88S|ENST00000554572,p.P88S|ENST00000344288,p.P88S|ENST00000358599,p.P88S|ENST00000557772,p.P88S|ENST00000353772,p.P88S|uc001xgy.2,p.P88S	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qoy.1	nonsynonymous SNV	exon1	c.C262T	p.P88S	PNVLWPTPGHLSPLVVHRQLSHLYA	PNVLWPTPGHLSSLVVHRQLSHLYA	2.0	3.0	unscreened	-	3881_14:64749442-64749442 G>A_PNVLWPTPGHLSSLVVHRQLSHLYA
9:136245963-136245963 G>A	1.0	3881	MELANOMA	-	-	-	-	STKLD1	NM_153710,p.M48I|ENST00000371957,p.M48I|uc004cdk.3,p.M48I|ENST00000426926,p.M48I	protein_coding, processed_transcript	uc004cdk.3	nonsynonymous SNV	exon2	c.G144A	p.M48I	PGALGVNLVVEEMETKVKHVIKQVE	PGALGVNLVVEEIETKVKHVIKQVE	6.0	10.0	unscreened	-	3881_9:136245963-136245963 G>A_PGALGVNLVVEEIETKVKHVIKQVE
6:31541175-31541175 T>G	0.0	3881	MELANOMA	-	-	-	-	LTA	uc003nuh.3,p.F55C	retained_intron, protein_coding	uc003nuh.3	nonsynonymous SNV	exon2	c.T164G	p.F55C	NNSLLVPTSGIYFVYSQGSSPPLLW	NNSLLVPTSGIYCVYSQGSSPPLLW	3.0	4.0	unscreened	-	3881_6:31541175-31541175 T>G_NNSLLVPTSGIYCVYSQGSSPPLLW
11:72421498-72421498 G>A	1.0	3881	MELANOMA	-	-	ID=COSM3416220,COSM3416221;OCCURENCE=1(large_intestine)	-	ARAP1	uc001oss.3,p.R205C|uc001osv.3,p.R450C|ENST00000359373,p.R450C|uc001osr.3,p.R210C|ENST00000426523,p.R205C|uc001osu.3,p.R450C|ENST00000429686,p.R205C|NM_001040118,p.R450C|uc010rre.2,p.R205C|NM_015242,p.R205C|ENST00000393609,p.R450C|ENST00000393605,p.R210C|ENST00000334211,p.R205C|uc009yth.3,p.R205C|NM_001135190,p.R205C|ENST00000455638,p.R450C	retained_intron, protein_coding, processed_transcript	uc010rre.2	nonsynonymous SNV	exon8	c.C613T	p.R205C	SEQPDRAGSLELRGFKNKLYVAVVG	SEQPDRAGSLELCGFKNKLYVAVVG	8.0	3.0	unscreened	-	3881_11:72421498-72421498 G>A_SEQPDRAGSLELCGFKNKLYVAVVG
2:131414399-131414399 C>T	0.0	3881	MELANOMA	-	-	-	-	POTEJ	uc021vor.2,p.A689V|ENST00000409602,p.A689V|NM_001277083,p.A689V	protein_coding	uc021vor.2	nonsynonymous SNV	exon15	c.C2066T	p.A689V	SGMCKAGFAGDDAPRAVFPSIVGCP	SGMCKAGFAGDDVPRAVFPSIVGCP	2.0	2.0	unscreened	-	3881_2:131414399-131414399 C>T_SGMCKAGFAGDDVPRAVFPSIVGCP
8:6782386-6782386 C>T	0.0	3881	MELANOMA	-	-	-	-	DEFA6	ENST00000297436,p.G86E|NM_001926,p.G86E|uc003wqt.3,p.G86E	protein_coding	uc003wqt.3	nonsynonymous SNV	exon2	c.G257A	p.G86E	CRRSCYSTEYSYGTCTVMGINHRFC	CRRSCYSTEYSYETCTVMGINHRFC	1.0	8.0	unscreened	-	3881_8:6782386-6782386 C>T_CRRSCYSTEYSYETCTVMGINHRFC
5:39311298-39311298 G>A	0.0	3881	MELANOMA	-	-	-	-	C9	ENST00000263408,p.S351F|NM_001737,p.S351F|uc003jlv.4,p.S351F	retained_intron, protein_coding, processed_transcript	uc003jlv.4	nonsynonymous SNV	exon7	c.C1052T	p.S351F	LETYGTHYSSSGSLGGLYELIYVLD	LETYGTHYSSSGFLGGLYELIYVLD	1.0	5.0	unscreened	-	3881_5:39311298-39311298 G>A_LETYGTHYSSSGFLGGLYELIYVLD
12:49425724-49425724 C>T	1.0	3881	MELANOMA	-	-	-	1	KMT2D	ENST00000301067,p.G4255D|NM_003482,p.G4255D|uc001rta.4,p.G4255D	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon39	c.G12764A	p.G4255D	YQEPGTQTSPLQGLLGCQPQLGGFP	YQEPGTQTSPLQDLLGCQPQLGGFP	9.0	5.0	unscreened	-	3881_12:49425724-49425724 C>T_YQEPGTQTSPLQDLLGCQPQLGGFP
7:141724933-141724933 G>A	0.0	3881	MELANOMA	-	-	-	-	MGAM	ENST00000549489,p.M322I|NM_004668,p.M322I|uc003vwy.3,p.M322I|ENST00000475668,p.M322I	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon8	c.G966A	p.M322I	EDASGLSFGVFLMNSNAMEVVLQPA	EDASGLSFGVFLINSNAMEVVLQPA	3.0	3.0	unscreened	-	3881_7:141724933-141724933 G>A_EDASGLSFGVFLINSNAMEVVLQPA
12:52168135-52168135 C>T	0.0	3881	MELANOMA	-	-	-	-	SCN8A	uc001ryw.4,p.L1270F|NM_014191,p.L1270F|ENST00000354534,p.L1270F	protein_coding, processed_transcript	uc001ryw.4	nonsynonymous SNV	exon20	c.C3808T	p.L1270F	KFFTNAWCWLDFLIVAVSLVSLIAN	KFFTNAWCWLDFFIVAVSLVSLIAN	1.0	4.0	unscreened	-	3881_12:52168135-52168135 C>T_KFFTNAWCWLDFFIVAVSLVSLIAN
6:29455504-29455504 G>A	0.0	3881	MELANOMA	-	-	-	-	MAS1L	ENST00000377127,p.T59I|uc011dlq.2,p.T59I|NM_052967,p.T59I	protein_coding	uc011dlq.2	nonsynonymous SNV	exon1	c.C176T	p.T59I	LCGVFLQNETNETIHMQMSMAVGQQ	LCGVFLQNETNEIIHMQMSMAVGQQ	1.0	7.0	unscreened	-	3881_6:29455504-29455504 G>A_LCGVFLQNETNEIIHMQMSMAVGQQ
X:138864851-138864851 T>A	0.0	3881	MELANOMA	-	-	-	-	ATP11C	ENST00000359686,p.I606F|ENST00000370543,p.I606F|ENST00000370557,p.I603F|NM_001010986,p.I606F|uc004faz.3,p.I606F|uc004fba.3,p.I606F|NM_173694,p.I606F|ENST00000327569,p.I606F|ENST00000361648,p.I606F	protein_coding, processed_transcript	uc004fba.3	nonsynonymous SNV	exon18	c.A1816T	p.I606F	DGYRTLCVAFKEIAPDDYERINRQL	DGYRTLCVAFKEFAPDDYERINRQL	8.0	8.0	unscreened	-	3881_X:138864851-138864851 T>A_DGYRTLCVAFKEFAPDDYERINRQL
12:54686974-54686974 C>T	0.0	3881	MELANOMA	-	-	-	-	NFE2	uc001sfr.5,p.M102I|ENST00000553198,p.M102I|uc009znl.4,p.M102I|ENST00000312156,p.M102I|ENST00000435572,p.M102I|uc009znk.4,p.M102I|NM_001261461,p.M102I|uc001sfq.4,p.M102I|NM_001136023,p.M102I|ENST00000540264,p.M102I|NM_006163,p.M102I|ENST00000553070,p.M102I	protein_coding	uc009znl.4	nonsynonymous SNV	exon4	c.G306A	p.M102I	SHVPDPPYSYGNMAIPVSKPLSLSG	SHVPDPPYSYGNIAIPVSKPLSLSG	3.0	4.0	unscreened	-	3881_12:54686974-54686974 C>T_SHVPDPPYSYGNIAIPVSKPLSLSG
5:178581069-178581069 C>T	0.0	3881	MELANOMA	-	-	-	-	ADAMTS2	uc003mjw.3,p.E455K|uc011dgm.2,p.E455K|NM_014244,p.E455K|ENST00000251582,p.E455K|NM_021599,p.E455K|ENST00000274609,p.E455K	retained_intron, protein_coding	uc011dgm.2	nonsynonymous SNV	exon8	c.G1363A	p.E455K	FHRFHWSRCSQQELSRYLHSYDCLL	FHRFHWSRCSQQKLSRYLHSYDCLL	6.0	7.0	unscreened	-	3881_5:178581069-178581069 C>T_FHRFHWSRCSQQKLSRYLHSYDCLL
7:43351408-43351408 C>T	0.0	3881	MELANOMA	-	-	-	-	HECW1	NM_015052,p.P25L|uc003tie.1,p.P57L|NM_001287059,p.P25L|uc011kbi.1,p.P25L|ENST00000453890,p.P25L|uc003tid.1,p.P25L|ENST00000395891,p.P25L	protein_coding, processed_transcript	uc011kbi.1	nonsynonymous SNV	exon3	c.C74T	p.P25L	QNRFLGLAAMASPSRNSQSRRRCKE	QNRFLGLAAMASLSRNSQSRRRCKE	1.0	5.0	unscreened	-	3881_7:43351408-43351408 C>T_QNRFLGLAAMASLSRNSQSRRRCKE
3:130425929-130425929 T>A	1.0	3881	MELANOMA	-	-	-	-	PIK3R4	NM_014602,p.M862L|uc003enj.3,p.M862L|ENST00000356763,p.M862L	retained_intron, protein_coding, processed_transcript	uc003enj.3	nonsynonymous SNV	exon11	c.A2584T	p.M862L	KQDSNVNEEWKSMFGSLDPPNMPQA	KQDSNVNEEWKSLFGSLDPPNMPQA	7.0	4.0	unscreened	-	3881_3:130425929-130425929 T>A_KQDSNVNEEWKSLFGSLDPPNMPQA
X:153699485-153699485 C>T	1.0	3881	MELANOMA	-	-	-	-	PLXNA3	ENST00000369682,p.P1732S|uc004flm.3,p.P1732S|NM_017514,p.P1732S	retained_intron, protein_coding, processed_transcript	uc004flm.3	nonsynonymous SNV	exon31	c.C5194T	p.P1732S	LPLRFWVNVIKNPQFVFDIHKNSIT	LPLRFWVNVIKNSQFVFDIHKNSIT	7.0	8.0	unscreened	-	3881_X:153699485-153699485 C>T_LPLRFWVNVIKNSQFVFDIHKNSIT
4:20611655-20611655 G>A	0.0	3881	MELANOMA	-	-	-	-	SLIT2	NM_001289135,p.G1234R|ENST00000273739,p.G1251R|ENST00000503837,p.G1234R|uc003gpr.1,p.G1238R|uc003gps.1,p.G1230R|ENST00000503823,p.G1230R|ENST00000504154,p.G1238R|NM_001289136,p.G1230R|NM_004787,p.G1238R	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon33	c.G3688A	p.G1230R	ASAIYSVETINDGNFHIVELLALDQ	ASAIYSVETINDRNFHIVELLALDQ	5.0	10.0	unscreened	-	3881_4:20611655-20611655 G>A_ASAIYSVETINDRNFHIVELLALDQ
12:51863541-51863541 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC4A8	ENST00000535225,p.G445E|uc001ryr.3,p.G498E|NM_001258402,p.G498E|ENST00000453097,p.G498E|uc001rym.4,p.G445E|uc001ryv.4,p.G445E|ENST00000394856,p.G445E|uc010snk.2,p.G445E|uc010snj.2,p.G525E|uc010sni.3,p.G445E|uc001ryn.4,p.G445E|NM_001258403,p.G445E|uc001rys.2,p.G498E|NM_001258401,p.G445E|ENST00000514353,p.G445E|NM_001039960,p.G498E|ENST00000358657,p.G525E|NM_001267615,p.G445E|uc001ryq.4,p.G498E	retained_intron, protein_coding, processed_transcript	uc010snk.2	nonsynonymous SNV	exon12	c.G1334A	p.G445E	YCACMSPVITFGGLLGEATEGRISA	YCACMSPVITFGELLGEATEGRISA	4.0	6.0	unscreened	-	3881_12:51863541-51863541 G>A_YCACMSPVITFGELLGEATEGRISA
X:21675168-21675168 G>A	0.0	3881	MELANOMA	-	-	-	-	KLHL34	uc004czz.1,p.R247W|NM_153270,p.R247W|ENST00000379499,p.R247W	protein_coding	uc004czz.1	nonsynonymous SNV	exon1	c.C739T	p.R247W	RVYSGSGLVLPARVKGLIIQALNYH	RVYSGSGLVLPAWVKGLIIQALNYH	1.0	10.0	unscreened	-	3881_X:21675168-21675168 G>A_RVYSGSGLVLPAWVKGLIIQALNYH
17:43908277-43908277 C>T	0.0	3881	MELANOMA	-	-	-	-	CRHR1	ENST00000583888,p.P124L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000583888	nonsynonymous SNV	exon5	c.C371T	p.P124L	NVVCPSPSLWPGPLGSCTTTMRSAG	NVVCPSPSLWPGLLGSCTTTMRSAG	1.0	8.0	unscreened	-	3881_17:43908277-43908277 C>T_NVVCPSPSLWPGLLGSCTTTMRSAG
6:31541175-31541175 T>G	0.0	3881	MELANOMA	-	-	-	-	LTA	uc003nue.2,p.F108C|ENST00000418386,p.F108C|NM_000595,p.F108C|ENST00000454783,p.F108C|NM_001159740,p.F108C|uc011dnu.2,p.F108C	retained_intron, protein_coding	uc011dnu.2	nonsynonymous SNV	exon4	c.T323G	p.F108C	NNSLLVPTSGIYFVYSQVVFSGKAY	NNSLLVPTSGIYCVYSQVVFSGKAY	3.0	4.0	unscreened	-	3881_6:31541175-31541175 T>G_NNSLLVPTSGIYCVYSQVVFSGKAY
3:108474710-108474710 G>A	0.0	3881	MELANOMA	-	-	-	-	RETNLB	uc003dxh.2,p.S84L|NM_032579,p.S84L|ENST00000295755,p.S84L	protein_coding, processed_transcript	uc003dxh.2	nonsynonymous SNV	exon3	c.C251T	p.S84L	AVTGCACGYGCGSWDVQLETTCHCQ	AVTGCACGYGCGLWDVQLETTCHCQ	1.0	2.0	unscreened	-	3881_3:108474710-108474710 G>A_AVTGCACGYGCGLWDVQLETTCHCQ
17:72927093-72927093 C>T	0.0	3881	MELANOMA	-	-	-	-	OTOP2	NM_178160,p.H455Y|ENST00000580223,p.H455Y|uc010wrp.2,p.H455Y|ENST00000331427,p.H455Y	retained_intron, protein_coding	uc010wrp.2	nonsynonymous SNV	exon6	c.C1363T	p.H455Y	CQDLTFTNLDALHTLSACPPNPGLV	CQDLTFTNLDALYTLSACPPNPGLV	1.0	7.0	unscreened	-	3881_17:72927093-72927093 C>T_CQDLTFTNLDALYTLSACPPNPGLV
19:12951862-12951862 C>T	0.0	3881	MELANOMA	-	-	-	-	MAST1	uc002mvm.3,p.S77L|ENST00000251472,p.S77L|ENST00000591495,p.S73L|NM_014975,p.S77L	retained_intron, protein_coding	uc002mvm.3	nonsynonymous SNV	exon3	c.C230T	p.S77L	PRNFSPNTPAHFSFASSRRADGRRW	PRNFSPNTPAHFLFASSRRADGRRW	3.0	6.0	unscreened	-	3881_19:12951862-12951862 C>T_PRNFSPNTPAHFLFASSRRADGRRW
7:83035270-83035270 C>T	0.0	3881	MELANOMA	-	-	-	-	SEMA3E	NM_012431,p.D307N|uc003uhy.2,p.D307N|NM_001178129,p.D247N|ENST00000307792,p.D307N|uc022agy.1,p.D247N|ENST00000427262,p.D247N	protein_coding, nonsense_mediated_decay	uc022agy.1	nonsynonymous SNV	exon8	c.G739A	p.D247N	SVPGMNGIDTYFDELEDVFLLPTRD	SVPGMNGIDTYFNELEDVFLLPTRD	6.0	5.0	unscreened	-	3881_7:83035270-83035270 C>T_SVPGMNGIDTYFNELEDVFLLPTRD
7:131866195-131866195 G>A	0.0	3881	MELANOMA	-	-	-	-	PLXNA4	NM_020911,p.A1146V|ENST00000359827,p.A1146V|ENST00000321063,p.A1146V|uc003vra.4,p.A1146V	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon18	c.C3437T	p.A1146V	TNFTYYPNPVFEAFGPSGILELKPG	TNFTYYPNPVFEVFGPSGILELKPG	2.0	6.0	unscreened	-	3881_7:131866195-131866195 G>A_TNFTYYPNPVFEVFGPSGILELKPG
6:117658412-117658412 G>A	0.0	3881	MELANOMA	-	-	-	1	ROS1	ENST00000368508,p.S1724L|uc003pxp.1,p.S1724L|ENST00000403284,p.S31L|ENST00000368507,p.S1718L|NM_002944,p.S1724L	protein_coding	uc003pxp.1	nonsynonymous SNV	exon31	c.C5171T	p.S1724L	YVCNITNLQPYTSYNVRVVVVYKTG	YVCNITNLQPYTLYNVRVVVVYKTG	1.0	10.0	unscreened	-	3881_6:117658412-117658412 G>A_YVCNITNLQPYTLYNVRVVVVYKTG
2:40657129-40657129 G>A	0.0	3881	MELANOMA	-	-	ID=COSM3839544,COSM3839542,COSM3839543;OCCURENCE=1(breast)	-	SLC8A1	uc002rsc.1,p.R98W|ENST00000406785,p.R98W|ENST00000542024,p.R98W|uc002rsd.4,p.R98W|NM_001112801,p.R98W|ENST00000542756,p.R98W|ENST00000405901,p.R98W|NM_021097,p.R98W|ENST00000332839,p.R98W|uc002rsa.3,p.R98W|ENST00000403092,p.R98W|ENST00000402441,p.R98W|uc002rsb.2,p.R98W|uc002rrz.3,p.R98W|NM_001252624,p.R98W|ENST00000407929,p.R95W|NM_001112802,p.R98W|uc002rry.3,p.R98W|ENST00000406391,p.R98W|uc002rrx.3,p.R98W|ENST00000408028,p.R98W|uc010fan.1,p.R98W|NM_001112800,p.R98W|ENST00000405269,p.R98W	protein_coding, nonsense_mediated_decay	uc010fan.1	nonsynonymous SNV	exon3	c.C292T	p.R98W	VYMFLGVSIIADRFMSSIEVITSQE	VYMFLGVSIIADWFMSSIEVITSQE	5.0	4.0	unscreened	-	3881_2:40657129-40657129 G>A_VYMFLGVSIIADWFMSSIEVITSQE
3:49050361-49050361 T>G	1.0	3881	MELANOMA	-	-	-	-	WDR6	ENST00000448293,p.L414R|NM_018031,p.L495R|uc010hkn.2,p.L439R|uc011bbz.1,p.L414R|ENST00000395474,p.L495R|uc003cvj.2,p.L495R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bbz.1	nonsynonymous SNV	exon2	c.T1241G	p.L414R	LLASGPGGVVACLEISAAPSGKAIF	LLASGPGGVVACREISAAPSGKAIF	9.0	10.0	-	-	3881_3:49050361-49050361 T>G_LLASGPGGVVACREISAAPSGKAIF
6:62390957-62390957 C>T	0.0	3881	MELANOMA	-	-	-	-	KHDRBS2	NM_152688,p.E321K|ENST00000281156,p.E321K|uc003peg.2,p.E321K	protein_coding	uc003peg.2	nonsynonymous SNV	exon9	c.G961A	p.E321K	VSEDAYDSYAPEEWATTRSSLKAPP	VSEDAYDSYAPEKWATTRSSLKAPP	1.0	1.0	unscreened	-	3881_6:62390957-62390957 C>T_VSEDAYDSYAPEKWATTRSSLKAPP
X:99849021-99849021 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1682767;OCCURENCE=1(large_intestine)	-	TNMD	ENST00000373031,p.D104N|uc004efz.2,p.D104N|NM_022144,p.D104N|uc004efy.4,p.D104N	protein_coding, processed_transcript	uc004efz.2	nonsynonymous SNV	exon3	c.G310A	p.D104N	SGNGTDETLEVHDFKNGYTGIYFVG	SGNGTDETLEVHNFKNGYTGIYFVG	1.0	9.0	unscreened	-	3881_X:99849021-99849021 G>A_SGNGTDETLEVHNFKNGYTGIYFVG
1:158576478-158576478 G>A	0.0	3881	MELANOMA	-	-	-	-	OR10Z1	ENST00000361284,p.G84S|uc010pio.2,p.G84S|NM_001004478,p.G84S	protein_coding	uc010pio.2	nonsynonymous SNV	exon1	c.G250A	p.G84S	CYTLGIIPRMLSGLAGGDQAISYVG	CYTLGIIPRMLSSLAGGDQAISYVG	1.0	9.0	unscreened	-	3881_1:158576478-158576478 G>A_CYTLGIIPRMLSSLAGGDQAISYVG
2:242141709-242141709 C>T	0.0	3881	MELANOMA	-	-	-	-	ANO7	uc002wax.2,p.P292L|ENST00000402430,p.P291L|ENST00000274979,p.P292L|NM_001001891,p.P292L	retained_intron, protein_coding	uc002wax.2	nonsynonymous SNV	exon8	c.C875T	p.P292L	QLLAEGVLSAAFPLHDGPFKTPPEG	QLLAEGVLSAAFLLHDGPFKTPPEG	3.0	3.0	unscreened	-	3881_2:242141709-242141709 C>T_QLLAEGVLSAAFLLHDGPFKTPPEG
12:52168135-52168135 C>T	0.0	3881	MELANOMA	-	-	-	-	SCN8A	ENST00000355133,p.L1270F|NM_001177984,p.L1270F|ENST00000545061,p.L1270F|uc010snl.3,p.L1270F	protein_coding, processed_transcript	uc010snl.3	nonsynonymous SNV	exon20	c.C3808T	p.L1270F	KFFTNAWCWLDFLIVAVVVNALVGA	KFFTNAWCWLDFFIVAVVVNALVGA	1.0	4.0	unscreened	-	3881_12:52168135-52168135 C>T_KFFTNAWCWLDFFIVAVVVNALVGA
15:50534930-50534930 G>A	0.0	3881	MELANOMA	-	-	-	-	HDC	uc010uff.2,p.L473F|ENST00000543581,p.L473F|uc001zxz.3,p.L506F|uc001zxy.3,p.L249F|ENST00000267845,p.L506F|NM_002112,p.L506F	retained_intron, protein_coding	uc010uff.2	nonsynonymous SNV	exon11	c.C1417T	p.L473F	IRGARAWACGTSLQSVSGAGDDPVQ	IRGARAWACGTSFQSVSGAGDDPVQ	1.0	10.0	unscreened	-	3881_15:50534930-50534930 G>A_IRGARAWACGTSFQSVSGAGDDPVQ
10:95791830-95791830 G>A	0.0	3881	MELANOMA	-	-	-	-	PLCE1	NM_016341,p.G343R|uc010qnx.2,p.G343R|uc001kjk.3,p.G343R|NM_001288989,p.G343R|ENST00000371380,p.G343R|ENST00000260766,p.G343R	protein_coding, processed_transcript	uc010qnx.2	nonsynonymous SNV	exon1	c.G1027A	p.G343R	KNDREVKKSVYTGTRAIVRTLPSGH	KNDREVKKSVYTRTRAIVRTLPSGH	3.0	2.0	unscreened	-	3881_10:95791830-95791830 G>A_KNDREVKKSVYTRTRAIVRTLPSGH
7:150171108-150171108 G>A	0.0	3881	MELANOMA	-	-	-	-	GIMAP8	uc003whj.3,p.E231K|NM_175571,p.E231K|ENST00000307271,p.E231K	protein_coding	uc003whj.3	nonsynonymous SNV	exon4	c.G691A	p.E231K	ASQEGDKPQGPRERQLQSTGPEQNP	ASQEGDKPQGPRKRQLQSTGPEQNP	5.0	5.0	unscreened	-	3881_7:150171108-150171108 G>A_ASQEGDKPQGPRKRQLQSTGPEQNP
16:58543235-58543235 T>C	0.0	3881	MELANOMA	-	-	-	-	NDRG4	NM_001242834,p.F300L|ENST00000356752,p.F312L|ENST00000563799,p.F300L|NM_020465,p.F314L|uc002enk.3,p.F314L|uc002enp.3,p.F282L|ENST00000568640,p.F300L|ENST00000566192,p.F282L|ENST00000569923,p.F227L|NM_022910,p.F314L|uc010vif.2,p.F314L|uc010cdk.3,p.F300L|NM_001130487,p.F334L|ENST00000394282,p.F334L|uc002enm.3,p.F334L|ENST00000394279,p.F314L|NM_001242833,p.F312L|uc010vig.2,p.F312L|uc010vih.2,p.F227L|NM_001242836,p.F282L|uc010vii.2,p.F300L|ENST00000258187,p.F314L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, ambiguous_orf	uc010vii.2	nonsynonymous SNV	exon13	c.T898C	p.F300L	TQPGKLTEAFKYFLQGMGYMPSASM	TQPGKLTEAFKYLLQGMGYMPSASM	4.0	8.0	unscreened	-	3881_16:58543235-58543235 T>C_TQPGKLTEAFKYLLQGMGYMPSASM
16:58543235-58543235 T>C	0.0	3881	MELANOMA	-	-	-	-	NDRG4	ENST00000562999,p.F270L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, ambiguous_orf	ENST00000562999	nonsynonymous SNV	exon12	c.T808C	p.F270L	LKPGKLTEAFKYFLQGMGYMPSASM	LKPGKLTEAFKYLLQGMGYMPSASM	4.0	8.0	unscreened	-	3881_16:58543235-58543235 T>C_LKPGKLTEAFKYLLQGMGYMPSASM
8:32616885-32616885 C>T	0.0	3881	MELANOMA	-	-	-	1	NRG1	ENST00000519301,p.S281F|uc011lbh.1,p.S174F|ENST00000518104,p.S298F|uc011lbg.1,p.S177F|uc010lvr.2,p.S73F|ENST00000287845,p.S302F|ENST00000356819,p.S336F|uc010lvs.2,p.S73F|NM_001159996,p.S177F|NM_013964,p.S331F|ENST00000523079,p.S328F|ENST00000338921,p.S339F|NM_013957,p.S328F|uc003xja.2,p.S142F|uc010lvo.2,p.S328F|ENST00000287842,p.S328F|ENST00000539990,p.S174F|uc003xiw.2,p.S328F|NM_013956,p.S336F|uc011lbf.1,p.S328F|ENST00000287840,p.S331F|NM_001160004,p.S328F|uc003xiu.2,p.S336F|ENST00000405005,p.S331F|NM_001160008,p.S328F|ENST00000521670,p.S331F|uc003xiv.2,p.S331F|ENST00000523534,p.S404F|uc003xit.2,p.S331F|NM_013960,p.S331F|uc022ats.1,p.S281F	retained_intron, protein_coding, processed_transcript	uc022ats.1	nonsynonymous SNV	exon9	c.C842T	p.S281F	SSEHIVEREAETSFSTSHYTSTAHH	SSEHIVEREAETFFSTSHYTSTAHH	1.0	6.0	unscreened	-	3881_8:32616885-32616885 C>T_SSEHIVEREAETFFSTSHYTSTAHH
X:3241577-3241577 G>A	0.0	3881	MELANOMA	-	-	-	-	MXRA5	NM_015419,p.P717S|ENST00000217939,p.P717S|uc004crg.4,p.P717S	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.C2149T	p.P717S	GDEENTSRRLLHPKDQEVFLKTKDD	GDEENTSRRLLHSKDQEVFLKTKDD	7.0	10.0	unscreened	-	3881_X:3241577-3241577 G>A_GDEENTSRRLLHSKDQEVFLKTKDD
10:105037275-105037275 G>A	0.0	3881	MELANOMA	-	-	-	-	INA	uc009xxj.3,p.D103N|ENST00000369849,p.D103N|uc001kws.3,p.D103N|NM_032727,p.D103N	protein_coding	uc009xxj.3	nonsynonymous SNV	exon1	c.G307A	p.D103N	RTNEKEQLQGLNDRFAVFIEKVHQL	RTNEKEQLQGLNNRFAVFIEKVHQL	4.0	1.0	unscreened	-	3881_10:105037275-105037275 G>A_RTNEKEQLQGLNNRFAVFIEKVHQL
2:209025793-209025793 G>A	0.0	3881	MELANOMA	-	-	-	-	CRYGA	NM_014617,p.S87L|ENST00000304502,p.S87L|uc002vcq.4,p.S87L	protein_coding	uc002vcq.4	nonsynonymous SNV	exon3	c.C260T	p.S87L	SVQSCRIIPHTSSHKLRLYERDDYR	SVQSCRIIPHTSLHKLRLYERDDYR	1.0	3.0	unscreened	-	3881_2:209025793-209025793 G>A_SVQSCRIIPHTSLHKLRLYERDDYR
15:53992043-53992043 G>A	0.0	3881	MELANOMA	-	-	-	-	WDR72	ENST00000396328,p.L557F|uc010bfi.1,p.L557F|ENST00000360509,p.L557F|ENST00000560036,p.L557F|ENST00000559418,p.L567F|uc031qse.1,p.L557F|uc002acj.2,p.L557F|NM_182758,p.L557F|ENST00000557913,p.L554F	protein_coding, processed_transcript	uc031qse.1	nonsynonymous SNV	exon13	c.C1669T	p.L557F	EGKSCLLHARKHLFPVRMIKWHPVE	EGKSCLLHARKHFFPVRMIKWHPVE	1.0	1.0	unscreened	-	3881_15:53992043-53992043 G>A_EGKSCLLHARKHFFPVRMIKWHPVE
4:44638070-44638070 G>A	0.0	3881	MELANOMA	-	-	-	-	YIPF7	NM_182592,p.S74F|uc021xnx.1,p.S74F|ENST00000332990,p.S74F|uc010ify.2,p.S74F	retained_intron, protein_coding, processed_transcript	uc021xnx.1	nonsynonymous SNV	exon3	c.C221T	p.S74F	RKQQAGEQPQPASFVPSEMLMSSGY	RKQQAGEQPQPAFFVPSEMLMSSGY	1.0	8.0	unscreened	-	3881_4:44638070-44638070 G>A_RKQQAGEQPQPAFFVPSEMLMSSGY
9:104449125-104449125 G>A	0.0	3881	MELANOMA	-	-	-	-	GRIN3A	NM_133445,p.R353C|uc004bbq.1,p.R353C|uc004bbp.2,p.R353C|ENST00000361820,p.R353C	protein_coding, processed_transcript	uc004bbq.1	nonsynonymous SNV	exon2	c.C1057T	p.R353C	ITTQFGVMPPELRWVLGDSQNVEEL	ITTQFGVMPPELCWVLGDSQNVEEL	2.0	10.0	unscreened	-	3881_9:104449125-104449125 G>A_ITTQFGVMPPELCWVLGDSQNVEEL
9:138439814-138439814 G>A	0.0	3881	MELANOMA	-	-	-	-	OBP2A	ENST00000342114,p.G81R|NM_001293193,p.G81R|uc010nav.3,p.G81R	protein_coding, nonsense_mediated_decay	uc010nav.3	nonsynonymous SNV	exon3	c.G241A	p.G81R	LQRPAPWGPALHGKACGICSLQGRA	LQRPAPWGPALHRKACGICSLQGRA	1.0	10.0	unscreened	-	3881_9:138439814-138439814 G>A_LQRPAPWGPALHRKACGICSLQGRA
1:176852034-176852034 G>A	0.0	3881	MELANOMA	-	-	-	-	ASTN1	ENST00000367654,p.S1116F|NM_207108,p.S1108F|uc001gld.1,p.S1108F|ENST00000424564,p.S1108F|ENST00000361833,p.S1108F|uc001glb.1,p.S1108F|NM_004319,p.S1108F|ENST00000367657,p.S1108F|NM_001286164,p.S1108F|uc001glc.3,p.S1108F	protein_coding, processed_transcript	uc001gld.1	nonsynonymous SNV	exon20	c.C3323T	p.S1108F	PSQVPDKQLTTISLIIRCLEPDTIY	PSQVPDKQLTTIFLIIRCLEPDTIY	1.0	1.0	unscreened	-	3881_1:176852034-176852034 G>A_PSQVPDKQLTTIFLIIRCLEPDTIY
4:96199420-96199420 G>A	0.0	3881	MELANOMA	-	-	-	-	UNC5C	ENST00000504962,p.P195L|uc003hto.3,p.P195L|ENST00000513796,p.P195L|uc010ilc.2,p.P195L|ENST00000453304,p.P195L|uc003htq.3,p.P195L|ENST00000506749,p.P195L|NM_003728,p.P195L	protein_coding	uc010ilc.2	nonsynonymous SNV	exon4	c.C584T	p.P195L	EVLLQCRPPEGIPVAEVEWLKNEDI	EVLLQCRPPEGILVAEVEWLKNEDI	2.0	2.0	unscreened	-	3881_4:96199420-96199420 G>A_EVLLQCRPPEGILVAEVEWLKNEDI
11:4609040-4609040 G>A	0.0	3881	MELANOMA	-	-	-	-	OR52I2	NM_001005170,p.R333K|uc010qyh.2,p.R333K|ENST00000312614,p.R333K	protein_coding	uc010qyh.2	nonsynonymous SNV	exon1	c.G998A	p.R333K	IIYGMRTKQLRERIWSYLMHVLFDH	IIYGMRTKQLREKIWSYLMHVLFDH	1.0	2.0	unscreened	-	3881_11:4609040-4609040 G>A_IIYGMRTKQLREKIWSYLMHVLFDH
12:49445098-49445098 G>A	1.0	3881	MELANOMA	-	-	-	1	KMT2D	ENST00000301067,p.P790S|NM_003482,p.P790S|uc001rta.4,p.P790S	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon10	c.C2368T	p.P790S	CLCAVPEEPHLSPQAEGPHLSPQPE	CLCAVPEEPHLSSQAEGPHLSPQPE	9.0	8.0	unscreened	-	3881_12:49445098-49445098 G>A_CLCAVPEEPHLSSQAEGPHLSPQPE
6:160196322-160196322 C>T	0.0	3881	MELANOMA	-	-	-	-	ACAT2	ENST00000541436,p.P233L|uc010kjy.3,p.P204L|ENST00000367048,p.P204L|NM_005891,p.P204L|uc011efw.2,p.P233L	protein_coding, processed_transcript	uc011efw.2	nonsynonymous SNV	exon5	c.C698T	p.P233L	AQKAGHFDKEIVPVLVSTRKGLIEV	AQKAGHFDKEIVLVLVSTRKGLIEV	5.0	10.0	unscreened	-	3881_6:160196322-160196322 C>T_AQKAGHFDKEIVLVLVSTRKGLIEV
3:8675504-8675504 G>C	0.0	3881	MELANOMA	-	-	-	-	SSUH2	NM_015931,p.P41A|ENST00000415132,p.P41A|uc003bqz.4,p.P41A|uc003bqy.4,p.P41A|ENST00000341795,p.P41A|ENST00000317371,p.P41A|uc003bqu.4,p.P41A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003bqz.4	nonsynonymous SNV	exon10	c.C121G	p.P41A	PRESTGPSQKPPPLCSVPCRVPAMT	PRESTGPSQKPPALCSVPCRVPAMT	5.0	2.0	unscreened	-	3881_3:8675504-8675504 G>C_PRESTGPSQKPPALCSVPCRVPAMT
6:42227184-42227184 G>A	0.0	3881	MELANOMA	-	-	-	-	TRERF1	uc003ose.2,p.S741L|uc003osc.2,p.S477L|NM_001297574,p.S741L|uc011duq.1,p.S638L|ENST00000372917,p.S638L|uc003osd.2,p.S721L|NM_001297573,p.S741L|ENST00000372922,p.S721L|uc003osb.2,p.S477L|ENST00000340840,p.S638L|ENST00000541110,p.S741L|NM_033502,p.S721L|ENST00000354325,p.S638L	protein_coding	uc011duq.1	nonsynonymous SNV	exon4	c.C1913T	p.S638L	TPPPMLSPVRQGSGLFSNVLISGHG	TPPPMLSPVRQGLGLFSNVLISGHG	4.0	1.0	unscreened	-	3881_6:42227184-42227184 G>A_TPPPMLSPVRQGLGLFSNVLISGHG
17:5085707-5085709 ATG>-	1.0	3881	MELANOMA	-	-	-	-	ZNF594	uc010cla.1,p.615_615del|ENST00000575779,p.615_615del|uc021tol.1,p.615_615del|NM_032530,p.615_615del|ENST00000399604,p.615_615del	protein_coding	uc021tol.1	nonframeshift deletion	exon1	c.1843_1845del	p.615_615del	KTFNQSSDLLRHHRIHSGEKPYVCN	KTFNQSSDLLRHRIHSGEKPYVCNK	7.0	4.0	unscreened	-	3881_17:5085707-5085709 ATG>-_KTFNQSSDLLRHRIHSGEKPYVCNK
11:27137097-27137097 C>T	0.0	3881	MELANOMA	-	-	-	-	BBOX1	ENST00000528583,p.P211L|ENST00000529202,p.P211L|NM_003986,p.P211L|uc001mre.1,p.P211L|uc021qfd.1,p.P211L|uc001mrg.1,p.P211L|ENST00000525090,p.P211L|uc009yih.1,p.P211L|ENST00000263182,p.P211L	retained_intron, protein_coding, processed_transcript	uc021qfd.1	nonsynonymous SNV	exon4	c.C632T	p.P211L	LSFHTDYPALHHPPGVQLLHCIKQT	LSFHTDYPALHHLPGVQLLHCIKQT	1.0	3.0	unscreened	-	3881_11:27137097-27137097 C>T_LSFHTDYPALHHLPGVQLLHCIKQT
11:18637246-18637246 G>A	1.0	3881	MELANOMA	-	-	-	-	SPTY2D1	NM_194285,p.S192L|uc001moy.3,p.S192L|uc010rdi.1,p.S192L|ENST00000336349,p.S192L	retained_intron, protein_coding, processed_transcript	uc010rdi.1	nonsynonymous SNV	exon3	c.C575T	p.S192L	QFEPVEIKVVKKSEERPMTAEELRE	QFEPVEIKVVKKLEERPMTAEELRE	9.0	6.0	unscreened	-	3881_11:18637246-18637246 G>A_QFEPVEIKVVKKLEERPMTAEELRE
16:70896038-70896038 C>T	0.0	3881	MELANOMA	-	-	ID=COSM116058;OCCURENCE=1(ovary)	-	HYDIN	ENST00000393567,p.G3897E|NM_001270974,p.G3897E|uc031qwy.1,p.G3897E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon69	c.G11690A	p.G3897E	GSPQPFSVEPSSGIVPVGKIQKFKV	GSPQPFSVEPSSEIVPVGKIQKFKV	5.0	2.0	unscreened	-	3881_16:70896038-70896038 C>T_GSPQPFSVEPSSEIVPVGKIQKFKV
4:80328264-80328264 A>G	0.0	3881	MELANOMA	-	-	-	-	GK2	uc003hlu.3,p.F364S|ENST00000358842,p.F364S|NM_033214,p.F364S	protein_coding	uc003hlu.3	nonsynonymous SNV	exon1	c.T1091C	p.F364S	VGTSYGCYFVPAFSGLYAPYWEPSA	VGTSYGCYFVPASSGLYAPYWEPSA	1.0	2.0	unscreened	-	3881_4:80328264-80328264 A>G_VGTSYGCYFVPASSGLYAPYWEPSA
11:3727689-3727689 G>A	1.0	3881	MELANOMA	-	-	-	1	NUP98	ENST00000355260,p.P971S|uc001lyi.3,p.P971S|ENST00000324932,p.P971S|uc001lyh.3,p.P971S|ENST00000359171,p.P971S|NM_016320,p.P971S|NM_139132,p.P971S|uc001lyg.3,p.P39S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lyi.3	nonsynonymous SNV	exon21	c.C2911T	p.P971S	ASTHIASSLGINPHVLQIMKASLLT	ASTHIASSLGINSHVLQIMKASLLT	10.0	3.0	unscreened	-	3881_11:3727689-3727689 G>A_ASTHIASSLGINSHVLQIMKASLLT
4:100341716-100341716 C>T	0.0	3881	MELANOMA	-	-	-	-	ADH7	uc003huv.2,p.E279K|ENST00000437033,p.E267K|uc021xqj.1,p.E287K|ENST00000476959,p.E287K|ENST00000482593,p.E210K|ENST00000209665,p.E279K|NM_000673,p.E279K|NM_001166504,p.E287K	retained_intron, protein_coding	uc021xqj.1	nonsynonymous SNV	exon6	c.G859A	p.E287K	SEMTGNNVGYTFEVIGHLETMIDAL	SEMTGNNVGYTFKVIGHLETMIDAL	1.0	2.0	unscreened	-	3881_4:100341716-100341716 C>T_SEMTGNNVGYTFKVIGHLETMIDAL
1:12919057-12919057 C>T	0.0	3881	MELANOMA	-	-	-	-	PRAMEF2	ENST00000240189,p.P65S|uc001aum.1,p.P65S|NM_023014,p.P65S	protein_coding	uc001aum.1	nonsynonymous SNV	exon2	c.C193T	p.P65S	TVMVQAWPFTCLPLVSLMKTLHLEP	TVMVQAWPFTCLSLVSLMKTLHLEP	1.0	8.0	unscreened	-	3881_1:12919057-12919057 C>T_TVMVQAWPFTCLSLVSLMKTLHLEP
9:125289062-125289062 C>T	0.0	3881	MELANOMA	-	-	-	-	OR1N1	ENST00000304880,p.E171K|uc004bmn.1,p.E171K|NM_012363,p.E171K	protein_coding	uc004bmn.1	nonsynonymous SNV	exon1	c.G511A	p.E171K	FLMARLSFCVTGEIAHFFCDITPVL	FLMARLSFCVTGKIAHFFCDITPVL	1.0	10.0	unscreened	-	3881_9:125289062-125289062 C>T_FLMARLSFCVTGKIAHFFCDITPVL
6:41000853-41000853 C>T	1.0	3881	MELANOMA	-	-	-	-	UNC5CL	ENST00000373164,p.G240E|uc003opi.3,p.G240E|NM_173561,p.G240E|ENST00000244565,p.G240E	protein_coding, processed_transcript	uc003opi.3	nonsynonymous SNV	exon4	c.G719A	p.G240E	FSLYTCVLEAPVGREARKWLQLAVF	FSLYTCVLEAPVEREARKWLQLAVF	5.0	9.0	-	-	3881_6:41000853-41000853 C>T_FSLYTCVLEAPVEREARKWLQLAVF
1:34052115-34052115 G>A	0.0	3881	MELANOMA	-	-	ID=COSM3943890,COSM3943891;OCCURENCE=1(ovary)	-	CSMD2	NM_001281956,p.P2347L|NM_052896,p.P2349L|uc001bxn.1,p.P2349L|ENST00000241312,p.P2349L|uc001bxm.1,p.P2347L|ENST00000373381,p.P2347L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon47	c.C7046T	p.P2349L	KLGTYLQFEGPPPICEVHCPTNELL	KLGTYLQFEGPPLICEVHCPTNELL	3.0	4.0	unscreened	-	3881_1:34052115-34052115 G>A_KLGTYLQFEGPPLICEVHCPTNELL
19:9049458-9049458 G>A	0.0	3881	MELANOMA	-	-	ID=COSM180172,COSM180173;OCCURENCE=1(large_intestine)	2	MUC16	uc002mkp.3,p.P10725S|NM_024690,p.P10725S|ENST00000397910,p.P10725S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon5	c.C32173T	p.P10725S	ATSPGAETSSAIPIMTVSPGAEDLV	ATSPGAETSSAISIMTVSPGAEDLV	1.0	5.0	unscreened	-	3881_19:9049458-9049458 G>A_ATSPGAETSSAISIMTVSPGAEDLV
12:81851645-81851645 C>T	0.0	3881	MELANOMA	-	-	-	-	PPFIA2	NM_001220478,p.E28K|NM_001220477,p.E28K|ENST00000407050,p.E28K|uc031qiu.1,p.E28K|ENST00000443686,p.E28K|uc031qiv.1,p.E28K|uc031qil.1,p.E28K|uc031qik.1,p.E28K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiv.1	nonsynonymous SNV	exon2	c.G82A	p.E28K	HPPNGTRFYTFQEFAALTKELNACR	HPPNGTRFYTFQKFAALTKELNACR	3.0	7.0	unscreened	-	3881_12:81851645-81851645 C>T_HPPNGTRFYTFQKFAALTKELNACR
19:9069660-9069660 G>A	0.0	3881	MELANOMA	0.0	-	-	2	MUC16	NM_024690,p.S5929F|uc002mkp.3,p.S5929F|ENST00000397910,p.S5929F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C17786T	p.S5929F	SPPSVEETSSPSSPVPLPAITSHSS	SPPSVEETSSPSFPVPLPAITSHSS	1.0	3.0	unscreened	-	3881_19:9069660-9069660 G>A_SPPSVEETSSPSFPVPLPAITSHSS
17:7226868-7226868 G>A	1.0	3881	MELANOMA	-	-	-	-	NEURL4	uc002gga.1,p.R785W|NM_032442,p.R785W|ENST00000570460,p.R763W|ENST00000573186,p.R530W|uc002ggb.1,p.R785W|uc002ggc.1,p.R131W|NM_001005408,p.R785W|ENST00000399464,p.R785W|ENST00000315614,p.R785W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ggc.1	nonsynonymous SNV	exon11	c.C391T	p.R131W	WSGSIEAGVTAIRPEDLEFPNTMTD	WSGSIEAGVTAIWPEDLEFPNTMTD	7.0	8.0	unscreened	-	3881_17:7226868-7226868 G>A_WSGSIEAGVTAIWPEDLEFPNTMTD
6:47763025-47763025 C>T	0.0	3881	MELANOMA	-	-	-	-	OPN5	ENST00000489301,p.S161F|uc003ozc.3,p.S161F|ENST00000371211,p.S161F|NM_181744,p.S161F|ENST00000393699,p.S161F	protein_coding, processed_transcript	uc003ozc.3	nonsynonymous SNV	exon4	c.C482T	p.S161F	AYICLAAIWAYASFWTTMPLVGLGD	AYICLAAIWAYAFFWTTMPLVGLGD	1.0	4.0	unscreened	-	3881_6:47763025-47763025 C>T_AYICLAAIWAYAFFWTTMPLVGLGD
16:31388171-31388171 G>A	0.0	3881	MELANOMA	-	-	-	-	ITGAX	uc002ebt.3,p.G854R|NM_000887,p.G854R|uc002ebu.1,p.G854R|ENST00000268296,p.G854R|NM_001286375,p.G854R|ENST00000562522,p.G854R	retained_intron, protein_coding, processed_transcript	uc002ebu.1	nonsynonymous SNV	exon21	c.G2560A	p.G854R	RSLHLTCDSAPVGSQGTWSTSCRIN	RSLHLTCDSAPVRSQGTWSTSCRIN	8.0	9.0	unscreened	-	3881_16:31388171-31388171 G>A_RSLHLTCDSAPVRSQGTWSTSCRIN
17:49237347-49237347 G>A	1.0	3881	MELANOMA	-	-	-	-	NME1,NME1-NME2	uc002ith.2,p.E70K|NM_001018136,p.E45K|ENST00000555572,p.E70K|ENST00000511355,p.E45K|ENST00000393196,p.E45K|ENST00000393193,p.E45K|ENST00000376392,p.E45K|uc002itk.3,p.E70K|ENST00000336097,p.E70K|ENST00000013034,p.E70K|uc002iti.2,p.E45K|NM_000269,p.E45K|uc002itj.3,p.E45K|NM_198175,p.E70K|uc010dbx.2,p.E70K|ENST00000475573,p.E45K|ENST00000480143,p.E70K	protein_coding	uc010dbx.2	nonsynonymous SNV	exon4	c.G208A	p.E70K	FRLVGLKFMQASEDLLKEHYVDLKD	FRLVGLKFMQASKDLLKEHYVDLKD	10.0	7.0	unscreened	-	3881_17:49237347-49237347 G>A_FRLVGLKFMQASKDLLKEHYVDLKD
17:78032424-78032424 C>T	1.0	3881	MELANOMA	-	-	-	-	CCDC40	uc021uem.1,p.R431W|ENST00000269318,p.R431W|ENST00000374877,p.R431W|NM_017950,p.R431W|ENST00000397545,p.R431W|uc002jxm.4,p.R214W|uc010dht.3,p.R431W|NM_001243342,p.R431W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uem.1	nonsynonymous SNV	exon8	c.C1291T	p.R431W	TQVVKKAETERIRAEIEKKKQDLYV	TQVVKKAETERIWAEIEKKKQDLYV	8.0	4.0	unscreened	-	3881_17:78032424-78032424 C>T_TQVVKKAETERIWAEIEKKKQDLYV
4:109862584-109862584 G>A	0.0	3881	MELANOMA	-	-	-	-	COL25A1	uc003hze.2,p.P168S|uc021xqp.2,p.P168S|ENST00000399126,p.P168S|NM_198721,p.P168S|uc003hzg.4,p.P168S|uc021xqo.1,p.P168S|ENST00000399132,p.P168S|NM_032518,p.P168S	retained_intron, protein_coding, nonsense_mediated_decay	uc021xqp.2	nonsynonymous SNV	exon8	c.C502T	p.P168S	GEQGDQGPRMVFPKINHGFLSADQQ	GEQGDQGPRMVFSKINHGFLSADQQ	3.0	10.0	unscreened	-	3881_4:109862584-109862584 G>A_GEQGDQGPRMVFSKINHGFLSADQQ
17:76089832-76089832 C>T	1.0	3881	MELANOMA	-	-	-	-	TNRC6C	uc002jud.2,p.L1432F|ENST00000541771,p.L1432F|ENST00000301624,p.L1432F|NM_018996,p.L1432F|ENST00000588061,p.L1432F	retained_intron, protein_coding	uc002jud.2	nonsynonymous SNV	exon17	c.C4294T	p.L1432F	INTTIQDVNRYLLKSGGKLSDIKST	INTTIQDVNRYLFKSGGKLSDIKST	7.0	5.0	unscreened	-	3881_17:76089832-76089832 C>T_INTTIQDVNRYLFKSGGKLSDIKST
4:20493405-20493405 C>T	0.0	3881	MELANOMA	-	-	-	-	SLIT2	NM_001289136,p.P266L|NM_004787,p.P266L|ENST00000503823,p.P266L|uc003gps.1,p.P266L|uc003gpr.1,p.P266L|ENST00000504154,p.P266L	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon9	c.C797T	p.P266L	EFVCSGHQSFMAPSCSVLHCPAACT	EFVCSGHQSFMALSCSVLHCPAACT	5.0	9.0	unscreened	-	3881_4:20493405-20493405 C>T_EFVCSGHQSFMALSCSVLHCPAACT
2:220354403-220354403 C>T	0.0	3881	MELANOMA	-	-	-	-	SPEG	NM_005876,p.P2888L|ENST00000312358,p.P2888L|uc010fwg.3,p.P2888L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon36	c.C8663T	p.P2888L	VLDTGTPIPASTPQGVKPVSSSTPV	VLDTGTPIPASTLQGVKPVSSSTPV	2.0	3.0	unscreened	-	3881_2:220354403-220354403 C>T_VLDTGTPIPASTLQGVKPVSSSTPV
12:114793596-114793596 C>G	0.0	3881	MELANOMA	-	-	-	-	TBX5	NM_080717,p.G383A|NM_000192,p.G433A|ENST00000405440,p.G433A|ENST00000349716,p.G383A|uc001tvp.3,p.G433A|NM_181486,p.G433A|uc001tvq.3,p.G383A|ENST00000310346,p.G433A|uc001tvo.4,p.G433A	protein_coding, processed_transcript	uc001tvq.3	nonsynonymous SNV	exon8	c.G1148C	p.G383A	LPYQHFSAHFTSGPLVPRLAGMANH	LPYQHFSAHFTSAPLVPRLAGMANH	1.0	6.0	unscreened	-	3881_12:114793596-114793596 C>G_LPYQHFSAHFTSAPLVPRLAGMANH
1:179437776-179437776 C>T	0.0	3881	MELANOMA	-	-	ID=COSM274239;OCCURENCE=1(breast),1(liver),1(large_intestine),1(salivary_gland)	-	AXDND1	uc001gmo.3,p.S666L|NM_144696,p.S666L|uc021pfj.1,p.S624L|ENST00000434088,p.S600L|ENST00000367618,p.S666L	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pfj.1	nonsynonymous SNV	exon15	c.C1871T	p.S624L	GIVPQHIDVDSVSVLQAYIFNMIQQ	GIVPQHIDVDSVLVLQAYIFNMIQQ	3.0	1.0	unscreened	-	3881_1:179437776-179437776 C>T_GIVPQHIDVDSVLVLQAYIFNMIQQ
1:177250206-177250206 G>A	0.0	3881	MELANOMA	-	-	-	-	BRINP2	NM_021165,p.G632R|ENST00000361539,p.G632R|uc001glg.3,p.G527R|uc001glf.3,p.G632R	protein_coding, processed_transcript	uc001glg.3	nonsynonymous SNV	exon5	c.G1579A	p.G527R	AAAQCQNWTITLGNRWKTFFETVHV	AAAQCQNWTITLRNRWKTFFETVHV	1.0	9.0	unscreened	-	3881_1:177250206-177250206 G>A_AAAQCQNWTITLRNRWKTFFETVHV
22:31673017-31673017 G>A	1.0	3881	MELANOMA	-	-	-	-	LIMK2	ENST00000340552,p.R651K|ENST00000406516,p.R594K|uc003akj.3,p.R651K|NM_001031801,p.R651K	retained_intron, protein_coding, processed_transcript	uc003akj.3	nonsynonymous SNV	exon15	c.G1952A	p.R651K	LLDMESDDAWASRVKELLVDCYKPT	LLDMESDDAWASKVKELLVDCYKPT	8.0	9.0	-	-	3881_22:31673017-31673017 G>A_LLDMESDDAWASKVKELLVDCYKPT
15:85467334-85467334 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC28A1	NM_004213,p.S359F|uc002blg.3,p.S359F|ENST00000286749,p.S359F|uc010upf.1,p.S359F|ENST00000537216,p.S359F|NM_001287762,p.S359F|ENST00000394573,p.S359F|uc010bnb.3,p.S359F|ENST00000537624,p.S359F|uc010upg.1,p.S359F	protein_coding	uc010upg.1	nonsynonymous SNV	exon12	c.C1076T	p.S359F	ATIAGSLLGAYISFGIDATSLIAAS	ATIAGSLLGAYIFFGIDATSLIAAS	1.0	10.0	unscreened	-	3881_15:85467334-85467334 C>T_ATIAGSLLGAYIFFGIDATSLIAAS
3:46718468-46718468 C>T	0.0	3881	MELANOMA	-	-	-	-	ALS2CL	NM_001190707,p.G601E|uc003cpz.2,p.G116E|ENST00000318962,p.G601E|uc003cqb.2,p.G601E|uc003cqa.2,p.G601E|NM_147129,p.G601E|ENST00000415953,p.G601E	retained_intron, protein_coding, nonsense_mediated_decay	uc003cqb.2	nonsynonymous SNV	exon17	c.G1802A	p.G601E	GVGAFPVESRWQGVYSPFRDFVCAG	GVGAFPVESRWQEVYSPFRDFVCAG	2.0	2.0	unscreened	-	3881_3:46718468-46718468 C>T_GVGAFPVESRWQEVYSPFRDFVCAG
1:111060775-111060775 G>A	0.0	3881	MELANOMA	-	-	ID=COSM140370;OCCURENCE=1(skin)	-	KCNA10	uc001dzt.1,p.S212F|ENST00000369771,p.S212F|NM_005549,p.S212F	protein_coding	uc001dzt.1	nonsynonymous SNV	exon1	c.C635T	p.S212F	RQFWLLFEYPESSSAARAVAVVSVL	RQFWLLFEYPESFSAARAVAVVSVL	1.0	9.0	unscreened	-	3881_1:111060775-111060775 G>A_RQFWLLFEYPESFSAARAVAVVSVL
X:102841631-102841631 G>A	0.0	3881	MELANOMA	-	-	-	-	TCEAL4	ENST00000372629,p.G153R|NM_001300901,p.G153R	retained_intron, protein_coding	NM_001300901	nonsynonymous SNV	exon5	c.G457A	p.G153R	NLDMEKLYSENEGMASNQGKMENEE	NLDMEKLYSENERMASNQGKMENEE	10.0	2.0	unscreened	-	3881_X:102841631-102841631 G>A_NLDMEKLYSENERMASNQGKMENEE
19:9072915-9072915 G>A	0.0	3881	MELANOMA	-	-	ID=COSM715251,COSM715250,COSM715249;OCCURENCE=1(lung)	2	MUC16	ENST00000397910,p.S4844L|uc002mkp.3,p.S4844L|NM_024690,p.S4844L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C14531T	p.S4844L	VTNVGTTGSAFESHSTVSAYPEPSK	VTNVGTTGSAFELHSTVSAYPEPSK	1.0	4.0	unscreened	-	3881_19:9072915-9072915 G>A_VTNVGTTGSAFELHSTVSAYPEPSK
13:113999193-113999193 C>T	0.0	3881	MELANOMA	-	-	-	-	GRTP1	NM_001286733,p.G183R	protein_coding, processed_transcript	NM_001286733	nonsynonymous SNV	exon5	c.G547A	p.G183R	EEESFWLLDALVGRILPENIFRTWK	EEESFWLLDALVRRILPENIFRTWK	1.0	4.0	unscreened	-	3881_13:113999193-113999193 C>T_EEESFWLLDALVRRILPENIFRTWK
14:86089474-86089474 C>T	0.0	3881	MELANOMA	-	-	-	-	FLRT2	NM_013231,p.S539F|uc021rxf.1,p.S539F|uc001xvr.3,p.S539F|ENST00000554746,p.S539F|ENST00000330753,p.S539F|uc010atd.3,p.S539F	retained_intron, protein_coding, processed_transcript	uc021rxf.1	nonsynonymous SNV	exon1	c.C1616T	p.S539F	SSHEQTTSHSMGSPFLLAGLIGGAV	SSHEQTTSHSMGFPFLLAGLIGGAV	4.0	7.0	unscreened	-	3881_14:86089474-86089474 C>T_SSHEQTTSHSMGFPFLLAGLIGGAV
9:125239706-125239706 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1686097;OCCURENCE=2(skin)	-	OR1J1	ENST00000259357,p.S167F|NM_001004451,p.S167F|uc011lyu.2,p.S167F	protein_coding	uc011lyu.2	nonsynonymous SNV	exon1	c.C500T	p.S167F	CALLHTLLLAQLSFCADHIIPHYFC	CALLHTLLLAQLFFCADHIIPHYFC	1.0	10.0	unscreened	-	3881_9:125239706-125239706 G>A_CALLHTLLLAQLFFCADHIIPHYFC
8:3889589-3889589 C>T	0.0	3881	MELANOMA	-	-	-	-	CSMD1	ENST00000539096,p.E150K|uc022aqr.1,p.E150K|NM_033225,p.E150K|ENST00000542608,p.E150K|ENST00000520002,p.E150K|ENST00000537824,p.E150K|ENST00000602723,p.E150K|ENST00000400186,p.E150K|ENST00000602557,p.E150K	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon4	c.G448A	p.E150K	EVLPSHTCGNPGEILKGVLHGTRFN	EVLPSHTCGNPGKILKGVLHGTRFN	7.0	9.0	unscreened	-	3881_8:3889589-3889589 C>T_EVLPSHTCGNPGKILKGVLHGTRFN
2:168101234-168101234 C>T	0.0	3881	MELANOMA	-	-	-	-	XIRP2	uc002udy.3,p.S936L|ENST00000409273,p.S889L|NM_152381,p.S1111L|uc010fpq.3,p.S889L|ENST00000409195,p.S1111L|ENST00000295237,p.S1111L|NM_001199144,p.S889L|uc002udx.3,p.S1111L	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C2666T	p.S889L	ETQPMESLYEKVSLMTSSEEIHKGD	ETQPMESLYEKVLLMTSSEEIHKGD	1.0	8.0	unscreened	-	3881_2:168101234-168101234 C>T_ETQPMESLYEKVLLMTSSEEIHKGD
1:248551693-248551693 C>T	0.0	3881	MELANOMA	-	-	-	-	OR2T6	NM_001005471,p.P262S|uc001iei.1,p.P262S|ENST00000355728,p.P262S	protein_coding	uc001iei.1	nonsynonymous SNV	exon1	c.C784T	p.P262S	LFYGAALYTYTLPQSYHTPIKDKVF	LFYGAALYTYTLSQSYHTPIKDKVF	1.0	10.0	unscreened	-	3881_1:248551693-248551693 C>T_LFYGAALYTYTLSQSYHTPIKDKVF
X:151821161-151821161 C>T	0.0	3881	MELANOMA	-	-	-	-	GABRQ	NM_018558,p.S439L|ENST00000370306,p.S439L|uc004ffp.1,p.S439L	protein_coding	uc004ffp.1	nonsynonymous SNV	exon9	c.C1316T	p.S439L	ATSESLSPLTSLSGQAPLATGESLS	ATSESLSPLTSLLGQAPLATGESLS	1.0	8.0	unscreened	-	3881_X:151821161-151821161 C>T_ATSESLSPLTSLLGQAPLATGESLS
3:98073179-98073179 G>A	0.0	3881	MELANOMA	-	-	-	-	OR5K4	uc011bgv.2,p.G161E|ENST00000354924,p.G161E|NM_001005517,p.G161E	protein_coding	uc011bgv.2	nonsynonymous SNV	exon1	c.G482A	p.G161E	FKAGNLHSMIHVGLLLRLTFCRSNK	FKAGNLHSMIHVELLLRLTFCRSNK	1.0	10.0	unscreened	-	3881_3:98073179-98073179 G>A_FKAGNLHSMIHVELLLRLTFCRSNK
12:116446807-116446807 C>T	1.0	3881	MELANOMA	-	-	-	-	MED13L	NM_015335,p.E471K|uc001tvw.3,p.E471K|ENST00000281928,p.E471K	retained_intron, protein_coding, processed_transcript	uc001tvw.3	nonsynonymous SNV	exon10	c.G1411A	p.E471K	LPPPASSKHKTAERQEKGDKLQKRP	LPPPASSKHKTAKRQEKGDKLQKRP	9.0	5.0	unscreened	-	3881_12:116446807-116446807 C>T_LPPPASSKHKTAKRQEKGDKLQKRP
6:70942349-70942349 C>T	0.0	3881	MELANOMA	-	-	-	-	COL9A1	NM_078485,p.G571R|ENST00000357250,p.G814R|uc003pfe.4,p.G363R|uc003pfg.4,p.G814R|ENST00000370499,p.G571R|ENST00000320755,p.G571R|uc003pff.4,p.G571R|NM_001851,p.G814R	retained_intron, protein_coding, processed_transcript	uc003pfg.4	nonsynonymous SNV	exon36	c.G2440A	p.G814R	GPPGENGFPGQMGIRGLPGIKGPPG	GPPGENGFPGQMRIRGLPGIKGPPG	1.0	10.0	unscreened	-	3881_6:70942349-70942349 C>T_GPPGENGFPGQMRIRGLPGIKGPPG
21:43711660-43711660 C>T	0.0	3881	MELANOMA	-	-	-	-	ABCG1	uc002zan.3,p.P518L|ENST00000347800,p.P513L|ENST00000343687,p.P527L|NM_004915,p.P528L|uc011aev.2,p.P539L|NM_016818,p.P516L|ENST00000398437,p.P674L|uc002zap.3,p.P516L|ENST00000340588,p.P636L|uc002zao.3,p.P513L|uc002zar.3,p.P527L|uc002zaq.3,p.P528L|uc002zam.3,p.P494L|ENST00000398457,p.P518L|NM_207174,p.P527L|NM_207629,p.P513L|ENST00000361802,p.P528L|ENST00000398449,p.P516L|NM_207628,p.P494L|NM_207627,p.P518L	retained_intron, protein_coding, processed_transcript	uc011aev.2	nonsynonymous SNV	exon13	c.C1616T	p.P539L	AYCSIVYWMTSQPSDAVRFVLFAAL	AYCSIVYWMTSQLSDAVRFVLFAAL	4.0	5.0	unscreened	-	3881_21:43711660-43711660 C>T_AYCSIVYWMTSQLSDAVRFVLFAAL
19:50399288-50399288 G>A	0.0	3881	MELANOMA	-	-	-	-	IL4I1	ENST00000601717,p.S46F	protein_coding, nonsense_mediated_decay	ENST00000601717	nonsynonymous SNV	exon6	c.C137T	p.S46F	SWPHWPCTSSSSSPSSSAWWPPRTG	SWPHWPCTSSSSFPSSSAWWPPRTG	7.0	3.0	unscreened	-	3881_19:50399288-50399288 G>A_SWPHWPCTSSSSFPSSSAWWPPRTG
16:81694498-81694498 C>T	0.0	3881	MELANOMA	-	-	-	-	CMIP	NM_030629,p.P137S|uc002fgp.3,p.P231S|uc002fgq.2,p.P137S|NM_198390,p.P231S|ENST00000537098,p.P231S|uc010vnq.2,p.P44S|ENST00000398040,p.P78S|uc002fgr.2,p.P78S|ENST00000539778,p.P137S	retained_intron, protein_coding, processed_transcript, TEC	uc010vnq.2	nonsynonymous SNV	exon5	c.C130T	p.P44S	TQEHENIIVAIAPLLENNHPPPDLC	TQEHENIIVAIASLLENNHPPPDLC	6.0	4.0	unscreened	-	3881_16:81694498-81694498 C>T_TQEHENIIVAIASLLENNHPPPDLC
4:68447033-68447033 C>T	0.0	3881	MELANOMA	-	-	-	-	STAP1	NM_012108,p.P125L|uc003hdf.3,p.P125L|ENST00000396225,p.P125L|ENST00000265404,p.P125L|uc003hde.4,p.P125L	protein_coding	uc003hdf.3	nonsynonymous SNV	exon5	c.C374T	p.P125L	RGFILTVTELSVPQNVSLLPGQVIK	RGFILTVTELSVLQNVSLLPGQVIK	3.0	9.0	unscreened	-	3881_4:68447033-68447033 C>T_RGFILTVTELSVLQNVSLLPGQVIK
X:135862957-135862957 C>T	1.0	3881	MELANOMA	-	-	-	-	ARHGEF6	uc004fab.3,p.E29K|NM_004840,p.E29K|ENST00000250617,p.E29K	protein_coding	uc004fab.3	nonsynonymous SNV	exon1	c.G85A	p.E29K	LESPKKTICDPEEFLKSSLKNGVVL	LESPKKTICDPEKFLKSSLKNGVVL	7.0	9.0	unscreened	-	3881_X:135862957-135862957 C>T_LESPKKTICDPEKFLKSSLKNGVVL
11:111229617-111229617 G>A	0.0	3881	MELANOMA	-	-	-	1	POU2AF1	NM_006235,p.P15S|uc001plg.4,p.P15S|ENST00000393067,p.P15S	protein_coding, processed_transcript	uc001plg.4	nonsynonymous SNV	exon2	c.C43T	p.P15S	WQKPTAPEQAPAPARPYQGVRVKEP	WQKPTAPEQAPASARPYQGVRVKEP	5.0	9.0	unscreened	-	3881_11:111229617-111229617 G>A_WQKPTAPEQAPASARPYQGVRVKEP
2:21227275-21227275 C>T	0.0	3881	MELANOMA	-	-	-	-	APOB	uc002red.3,p.D3985N|ENST00000233242,p.D3985N|NM_000384,p.D3985N	protein_coding	uc002red.3	nonsynonymous SNV	exon28	c.G11953A	p.D3985N	KAHLNIKSPAFTDLHLRYQKDKKGI	KAHLNIKSPAFTNLHLRYQKDKKGI	1.0	9.0	unscreened	-	3881_2:21227275-21227275 C>T_KAHLNIKSPAFTNLHLRYQKDKKGI
4:140587180-140587180 G>A	0.0	3881	MELANOMA	-	-	-	-	MGST2	ENST00000506797,p.G3R|ENST00000265498,p.G3R|NM_001204368,p.G3R|uc021xsf.1,p.G3R|uc021xse.1,p.G3R|NM_001204366,p.G3R|NM_002413,p.G3R|ENST00000503816,p.G3R|uc003ihy.3,p.G3R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xsf.1	nonsynonymous SNV	exon1	c.G7A	p.G3R	MAGNSILLAAVSILS	MARNSILLAAVSILS	6.0	3.0	unscreened	-	3881_4:140587180-140587180 G>A_MARNSILLAAVSILS
X:131212023-131212023 C>T	0.0	3881	MELANOMA	-	-	-	-	FRMD7	uc022cdy.1,p.M554I|uc011muy.2,p.M659I|ENST00000464296,p.M659I|ENST00000370879,p.M554I|ENST00000298542,p.M674I|NM_194277,p.M674I|uc004ewn.3,p.M674I	protein_coding	uc022cdy.1	nonsynonymous SNV	exon8	c.G1662A	p.M554I	YYALYGKEIRSPMARIRLSSGSLQL	YYALYGKEIRSPIARIRLSSGSLQL	1.0	3.0	unscreened	-	3881_X:131212023-131212023 C>T_YYALYGKEIRSPIARIRLSSGSLQL
14:20248835-20248835 G>A	0.0	3881	MELANOMA	-	-	ID=COSM697733;OCCURENCE=1(lung),1(skin)	-	OR4M1	ENST00000315957,p.M118I|uc010tku.2,p.M118I|NM_001005500,p.M118I	protein_coding	uc010tku.2	nonsynonymous SNV	exon1	c.G354A	p.M118I	FVGASEMFLLTVMAYDRYAAICRPL	FVGASEMFLLTVIAYDRYAAICRPL	1.0	1.0	unscreened	-	3881_14:20248835-20248835 G>A_FVGASEMFLLTVIAYDRYAAICRPL
5:150726996-150726996 C>A	0.0	3881	MELANOMA	-	-	-	-	SLC36A2	uc003lty.3,p.G9V|ENST00000518617,p.G9V|ENST00000335244,p.G9V|ENST00000518280,p.G9V|uc011dct.1,p.G9V|NM_181776,p.G9V|ENST00000521967,p.G9V|uc010jhv.2,p.G9V	retained_intron, protein_coding, nonsense_mediated_decay	uc011dct.1	nonsynonymous SNV	exon1	c.G26T	p.G9V	MSVTKSTEGPQGAVAIKLDLM	MSVTKSTEVPQGAVAIKLDLM	1.0	1.0	unscreened	-	3881_5:150726996-150726996 C>A_MSVTKSTEVPQGAVAIKLDLM
7:15427036-15427036 G>A	0.0	3881	MELANOMA	-	-	-	-	AGMO	NM_001004320,p.P318S|uc003stb.1,p.P318S|ENST00000342526,p.P318S	protein_coding, processed_transcript	uc003stb.1	nonsynonymous SNV	exon9	c.C952T	p.P318S	PGKPRLGLSEEIPEVTGKEVPFSSS	PGKPRLGLSEEISEVTGKEVPFSSS	1.0	8.0	unscreened	-	3881_7:15427036-15427036 G>A_PGKPRLGLSEEISEVTGKEVPFSSS
5:16067851-16067851 C>T	0.0	3881	MELANOMA	-	-	-	-	MARCH11	NM_001102562,p.R313Q|ENST00000332432,p.R313Q|uc003jfo.2,p.R313Q|uc010itw.1,p.R69Q	protein_coding, processed_transcript	uc010itw.1	nonsynonymous SNV	exon2	c.G206A	p.R69Q	EGAAVYRVFKRWRAVNLHWDVLNYD	EGAAVYRVFKRWQAVNLHWDVLNYD	1.0	7.0	unscreened	-	3881_5:16067851-16067851 C>T_EGAAVYRVFKRWQAVNLHWDVLNYD
11:58604605-58604605 G>A	0.0	3881	MELANOMA	-	-	-	-	GLYATL2	uc009ymq.3,p.S120L|ENST00000287275,p.S120L|NM_145016,p.S120L|ENST00000532258,p.S120L|uc001nnd.4,p.S120L	protein_coding, processed_transcript	uc009ymq.3	nonsynonymous SNV	exon6	c.C359T	p.S120L	EGLDEAIRKVATSKSVQVDYMKTIL	EGLDEAIRKVATLKSVQVDYMKTIL	4.0	2.0	unscreened	-	3881_11:58604605-58604605 G>A_EGLDEAIRKVATLKSVQVDYMKTIL
2:209358032-209358032 C>T	0.0	3881	MELANOMA	-	-	-	-	PTH2R	uc002vdb.4,p.S434F|ENST00000272847,p.S434F|NM_005048,p.S434F|uc010zjb.2,p.S445F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zjb.2	nonsynonymous SNV	exon13	c.C1334T	p.S445F	AEVKKMWSRWNLSVDWKRTPPCGSR	AEVKKMWSRWNLFVDWKRTPPCGSR	1.0	4.0	unscreened	-	3881_2:209358032-209358032 C>T_AEVKKMWSRWNLFVDWKRTPPCGSR
20:10624479-10624479 T>C	1.0	3881	MELANOMA	-	-	-	-	JAG1	NM_000214,p.N802S|ENST00000254958,p.N802S|ENST00000423891,p.N643S|uc010gcd.1,p.N360S|uc002wnw.2,p.N802S	protein_coding, processed_transcript	uc010gcd.1	nonsynonymous SNV	exon12	c.A1079G	p.N360S	PCYNSGTCVDGDNWYRCECAPGFAG	PCYNSGTCVDGDSWYRCECAPGFAG	7.0	3.0	unscreened	-	3881_20:10624479-10624479 T>C_PCYNSGTCVDGDSWYRCECAPGFAG
20:62368930-62368930 C>T	0.0	3881	MELANOMA	-	-	-	-	LIME1	ENST00000309546,p.P10S|uc011abi.2,p.P10S|uc002ygp.4,p.P10S|ENST00000444951,p.P10S|NM_017806,p.P10S	protein_coding, processed_transcript	uc011abi.2	nonsynonymous SNV	exon2	c.C28T	p.P10S	MGLPVSWAPPALWVLGCCALLL	MGLPVSWAPSALWVLGCCALLL	4.0	4.0	unscreened	-	3881_20:62368930-62368930 C>T_MGLPVSWAPSALWVLGCCALLL
7:147844759-147844759 G>A	0.0	3881	MELANOMA	-	-	-	2	CNTNAP2	ENST00000361727,p.E911K|NM_014141,p.E911K|uc003weu.2,p.E911K	protein_coding, processed_transcript	uc003weu.2	nonsynonymous SNV	exon17	c.G2731A	p.E911K	DRLPQQIRKAPTEGHTRLELYSQLF	DRLPQQIRKAPTKGHTRLELYSQLF	1.0	8.0	unscreened	-	3881_7:147844759-147844759 G>A_DRLPQQIRKAPTKGHTRLELYSQLF
12:4554448-4554448 G>A	0.0	3881	MELANOMA	-	-	-	-	FGF6	uc001qmr.1,p.H97Y|ENST00000228837,p.H97Y|NM_020996,p.H97Y	protein_coding, processed_transcript	uc001qmr.1	nonsynonymous SNV	exon1	c.C289T	p.H97Y	QRRLYCNVGIGFHLQVLPDGRISGT	QRRLYCNVGIGFYLQVLPDGRISGT	1.0	6.0	unscreened	-	3881_12:4554448-4554448 G>A_QRRLYCNVGIGFYLQVLPDGRISGT
4:166935656-166935656 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1131187;OCCURENCE=1(prostate)	-	TLL1	NM_012464,p.R329Q|uc011cjn.2,p.R329Q|uc021xud.1,p.R329Q|uc011cjo.2,p.R153Q|ENST00000507499,p.R329Q|ENST00000061240,p.R329Q|uc003irh.2,p.R329Q|NM_001204760,p.R329Q|ENST00000513213,p.R329Q	protein_coding, nonsense_mediated_decay	uc021xud.1	nonsynonymous SNV	exon8	c.G986A	p.R329Q	RDDNGIRPAIGQRTRLSKGDIAQAR	RDDNGIRPAIGQQTRLSKGDIAQAR	2.0	10.0	unscreened	-	3881_4:166935656-166935656 G>A_RDDNGIRPAIGQQTRLSKGDIAQAR
1:183196009-183196009 C>T	0.0	3881	MELANOMA	-	-	-	-	LAMC2	uc001gpz.4,p.P415S|NM_018891,p.P415S|ENST00000493293,p.P415S|ENST00000264144,p.P415S|uc001gqa.2,p.P415S|uc010poa.2,p.P115S|NM_005562,p.P415S	protein_coding, processed_transcript	uc010poa.2	nonsynonymous SNV	exon9	c.C343T	p.P115S	DSARLGPFGTCIPCNCQGGGACDPD	DSARLGPFGTCISCNCQGGGACDPD	1.0	9.0	unscreened	-	3881_1:183196009-183196009 C>T_DSARLGPFGTCISCNCQGGGACDPD
11:92088409-92088409 C>T	0.0	3881	MELANOMA	-	-	-	2	FAT3	ENST00000541502,p.P1044L|ENST00000525166,p.P894L|ENST00000298047,p.P1044L|uc001pdj.4,p.P1044L|NM_001008781,p.P1044L|ENST00000409404,p.P1044L	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon1	c.C3131T	p.P1044L	VDVNENLHTPYFPDFAVVGSVKENS	VDVNENLHTPYFLDFAVVGSVKENS	1.0	1.0	unscreened	-	3881_11:92088409-92088409 C>T_VDVNENLHTPYFLDFAVVGSVKENS
2:162751198-162751198 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC4A10	ENST00000535165,p.M372I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000535165	nonsynonymous SNV	exon10	c.G1116A	p.M372I	GLAEVPIPTRYFMMLPIKLKIVMTW	GLAEVPIPTRYFIMLPIKLKIVMTW	1.0	2.0	unscreened	-	3881_2:162751198-162751198 G>A_GLAEVPIPTRYFIMLPIKLKIVMTW
X:119064070-119064070 C>T	0.0	3881	MELANOMA	-	-	-	-	NKAP	NM_024528,p.G328R|uc004esg.3,p.G215R|uc004esh.3,p.G328R|ENST00000371410,p.G328R	protein_coding, processed_transcript	uc004esh.3	nonsynonymous SNV	exon8	c.G982A	p.G328R	GEGAAMAEYVKAGKRIPRRGEIGLT	GEGAAMAEYVKARKRIPRRGEIGLT	8.0	5.0	unscreened	-	3881_X:119064070-119064070 C>T_GEGAAMAEYVKARKRIPRRGEIGLT
3:131268907-131268907 C>T	0.0	3881	MELANOMA	-	-	-	-	CPNE4	ENST00000429747,p.E396K|uc003eom.3,p.E396K|ENST00000512055,p.E396K|NM_001289112,p.E414K|ENST00000512332,p.E414K|ENST00000511604,p.E396K|ENST00000502818,p.E414K|uc003eol.3,p.E414K|NM_153429,p.E414K|NM_130808,p.E396K|uc003eok.3,p.E396K|uc011blq.2,p.E414K	retained_intron, protein_coding, processed_transcript	uc011blq.2	nonsynonymous SNV	exon14	c.G1240A	p.E414K	DNPECAGIQGVVEAYQSCLPKLQLY	DNPECAGIQGVVKAYQSCLPKLQLY	1.0	10.0	unscreened	-	3881_3:131268907-131268907 C>T_DNPECAGIQGVVKAYQSCLPKLQLY
2:241697798-241697798 G>A	0.0	3881	MELANOMA	-	-	-	-	KIF1A	ENST00000320389,p.P845L|uc031rsb.1,p.P845L|NM_004321,p.P845L	retained_intron, protein_coding	uc031rsb.1	nonsynonymous SNV	exon24	c.C2534T	p.P845L	VVTGGDPFYDRFPWFRLVGRAFVYL	VVTGGDPFYDRFLWFRLVGRAFVYL	1.0	1.0	unscreened	-	3881_2:241697798-241697798 G>A_VVTGGDPFYDRFLWFRLVGRAFVYL
16:87935532-87935532 C>T	0.0	3881	MELANOMA	-	-	-	-	CA5A	ENST00000309893,p.E202K|NM_001739,p.E202K|uc002fkn.1,p.E202K	retained_intron, protein_coding, processed_transcript	uc002fkn.1	nonsynonymous SNV	exon5	c.G604A	p.E202K	HQTLQRLVDILPEIKHKDARAAMRP	HQTLQRLVDILPKIKHKDARAAMRP	1.0	3.0	unscreened	-	3881_16:87935532-87935532 C>T_HQTLQRLVDILPKIKHKDARAAMRP
5:79026597-79026597 C>T	0.0	3881	MELANOMA	-	-	-	-	CMYA5	uc003kgc.3,p.S670L|NM_153610,p.S670L|ENST00000446378,p.S670L	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.C2009T	p.S670L	TEKTSENQSPLFSTVTPEYMVLSGD	TEKTSENQSPLFLTVTPEYMVLSGD	3.0	3.0	unscreened	-	3881_5:79026597-79026597 C>T_TEKTSENQSPLFLTVTPEYMVLSGD
11:2156650-2156650 C>T	0.0	3881	MELANOMA	-	-	-	-	IGF2	uc009ydf.3,p.G91E|NM_001127598,p.G91E|uc021qcb.1,p.G35E|ENST00000337883,p.G35E|ENST00000381395,p.G35E|ENST00000434045,p.G91E|ENST00000381406,p.G35E|ENST00000300632,p.G35E|NM_000612,p.G35E|ENST00000416167,p.G35E|ENST00000381392,p.G35E|ENST00000381389,p.G35E|NM_001291861,p.G35E|uc009yde.3,p.G35E|uc001lvg.3,p.G35E|NM_001007139,p.G35E|uc001lvh.3,p.G35E|ENST00000418738,p.G35E|NM_001291862,p.G35E	protein_coding, processed_transcript	uc021qcb.1	nonsynonymous SNV	exon2	c.G104A	p.G35E	IAAYRPSETLCGGELVDTLQFVCGD	IAAYRPSETLCGEELVDTLQFVCGD	5.0	6.0	unscreened	-	3881_11:2156650-2156650 C>T_IAAYRPSETLCGEELVDTLQFVCGD
14:94780958-94780958 G>A	0.0	3881	MELANOMA	-	-	-	-	SERPINA6	ENST00000557225,p.L10F|ENST00000555056,p.L10F|ENST00000341584,p.L10F|uc001ycv.3,p.L10F|NM_001756,p.L10F	protein_coding, nonsense_mediated_decay	uc001ycv.3	nonsynonymous SNV	exon2	c.C28T	p.L10F	MPLLLYTCLLWLPTSGLWTVQA	MPLLLYTCLFWLPTSGLWTVQA	1.0	6.0	unscreened	-	3881_14:94780958-94780958 G>A_MPLLLYTCLFWLPTSGLWTVQA
1:175355398-175355398 G>A	0.0	3881	MELANOMA	-	-	ID=COSM414304;OCCURENCE=1(urinary_tract),1(skin)	-	TNR	ENST00000367674,p.S516L|ENST00000263525,p.S516L|NM_003285,p.S516L|uc009wwu.1,p.S516L|uc001gkp.1,p.S516L	protein_coding	uc009wwu.1	nonsynonymous SNV	exon8	c.C1547T	p.S516L	IDGPTQILVRDVSDTVAFVEWIPPR	IDGPTQILVRDVLDTVAFVEWIPPR	1.0	9.0	unscreened	-	3881_1:175355398-175355398 G>A_IDGPTQILVRDVLDTVAFVEWIPPR
21:47574102-47574102 G>A	1.0	3881	MELANOMA	-	-	-	-	FTCD	ENST00000397748,p.R67W|ENST00000291670,p.R67W|uc002zig.3,p.R67W|NM_206965,p.R67W|uc002zih.3,p.R67W|uc002zif.3,p.R67W|NM_006657,p.R67W|ENST00000359679,p.R67W|ENST00000397746,p.R67W|ENST00000355384,p.R67W|ENST00000397743,p.R67W|uc010gqf.3,p.R67W	retained_intron, protein_coding, processed_transcript	uc010gqf.3	nonsynonymous SNV	exon2	c.C199T	p.R67W	PECVVEGALNAARVASRLIDMSRHQ	PECVVEGALNAAWVASRLIDMSRHQ	4.0	6.0	unscreened	-	3881_21:47574102-47574102 G>A_PECVVEGALNAAWVASRLIDMSRHQ
12:7470642-7470642 C>T	0.0	3881	MELANOMA	-	-	-	-	ACSM4	ENST00000399422,p.S262F|uc001qsx.1,p.S262F|NM_001080454,p.S262F	retained_intron, protein_coding	uc001qsx.1	nonsynonymous SNV	exon5	c.C785T	p.S262F	FTLCGRYWLDLKSSDIIWNMSDTGW	FTLCGRYWLDLKFSDIIWNMSDTGW	1.0	8.0	unscreened	-	3881_12:7470642-7470642 C>T_FTLCGRYWLDLKFSDIIWNMSDTGW
17:64880735-64880735 G>A	0.0	3881	MELANOMA	-	-	-	-	CACNG5	ENST00000307139,p.G176E|ENST00000169565,p.G176E|NM_145811,p.G176E|ENST00000533854,p.G176E|uc010wqj.2,p.G176E|uc010wqi.2,p.G176E	protein_coding	uc010wqj.2	nonsynonymous SNV	exon4	c.G527A	p.G176E	TKDAETYFNYKYGWSFAFAAISFLL	TKDAETYFNYKYEWSFAFAAISFLL	1.0	3.0	unscreened	-	3881_17:64880735-64880735 G>A_TKDAETYFNYKYEWSFAFAAISFLL
20:44756826-44756826 G>A	0.0	3881	MELANOMA	-	-	-	-	CD40	uc002xrh.1,p.D183N|NM_152854,p.D183N|ENST00000372276,p.D183N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002xrh.1	nonsynonymous SNV	exon6	c.G547A	p.D183N	AESPGGDPHHLRDPVCHPLGAGLYQ	AESPGGDPHHLRNPVCHPLGAGLYQ	6.0	8.0	unscreened	-	3881_20:44756826-44756826 G>A_AESPGGDPHHLRNPVCHPLGAGLYQ
3:44763399-44763399 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF502	uc011bab.2,p.P364S|NM_001134441,p.P364S|NM_001134442,p.P364S|ENST00000296091,p.P364S|uc003cnt.3,p.P364S|NM_033210,p.P364S|NM_001282880,p.P364S|NM_001134440,p.P364S|ENST00000436624,p.P364S|uc011baa.2,p.P364S|uc003cns.3,p.P364S|ENST00000449836,p.P364S	protein_coding	uc011bab.2	nonsynonymous SNV	exon3	c.C1090T	p.P364S	KCKECGKAFCQSPSLIKHQRIHTGE	KCKECGKAFCQSSSLIKHQRIHTGE	5.0	1.0	unscreened	-	3881_3:44763399-44763399 C>T_KCKECGKAFCQSSSLIKHQRIHTGE
12:11138757-11138757 G>T	0.0	3881	MELANOMA	-	-	-	-	TAS2R50	ENST00000506868,p.L235I|NM_176890,p.L235I|uc001qzl.2,p.L235I	protein_coding	uc001qzl.2	nonsynonymous SNV	exon1	c.C703A	p.L235I	VHIKALQTLISFLLLCAIFFLFLIV	VHIKALQTLISFILLCAIFFLFLIV	1.0	5.0	unscreened	-	3881_12:11138757-11138757 G>T_VHIKALQTLISFILLCAIFFLFLIV
1:34052116-34052116 G>A	0.0	3881	MELANOMA	-	-	-	-	CSMD2	NM_001281956,p.P2347S|ENST00000241312,p.P2349S|uc001bxn.1,p.P2349S|NM_052896,p.P2349S|ENST00000373381,p.P2347S|uc001bxm.1,p.P2347S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon47	c.C7045T	p.P2349S	KLGTYLQFEGPPPICEVHCPTNELL	KLGTYLQFEGPPSICEVHCPTNELL	3.0	4.0	unscreened	-	3881_1:34052116-34052116 G>A_KLGTYLQFEGPPSICEVHCPTNELL
5:35065964-35065964 C>T	0.0	3881	MELANOMA	-	-	-	-	PRLR	NM_001204314,p.E265K|ENST00000382002,p.E366K|uc003jjm.3,p.E366K|ENST00000342362,p.E265K|uc003jjl.4,p.E265K|NM_000949,p.E366K|ENST00000511486,p.E265K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003jjm.3	nonsynonymous SNV	exon10	c.G1096A	p.E366K	CDSPSLLSEKCEEPQANPSTFYDPE	CDSPSLLSEKCEKPQANPSTFYDPE	2.0	8.0	unscreened	-	3881_5:35065964-35065964 C>T_CDSPSLLSEKCEKPQANPSTFYDPE
17:8701013-8701013 C>T	0.0	3881	MELANOMA	-	-	-	-	MFSD6L	NM_152599,p.G476R|ENST00000329805,p.G476R|uc002glp.2,p.G476R	protein_coding	uc002glp.2	nonsynonymous SNV	exon1	c.G1426A	p.G476R	SAISNRALWWAVGASVEDLATPRME	SAISNRALWWAVRASVEDLATPRME	1.0	7.0	unscreened	-	3881_17:8701013-8701013 C>T_SAISNRALWWAVRASVEDLATPRME
2:241697798-241697798 G>A	0.0	3881	MELANOMA	-	-	-	-	KIF1A	uc002vzz.2,p.P854L|NM_001244008,p.P854L|ENST00000498729,p.P854L|ENST00000404283,p.P854L|uc010fzk.3,p.P854L	retained_intron, protein_coding	uc010fzk.3	nonsynonymous SNV	exon26	c.C2561T	p.P854L	VVTGGDPFYDRFPWFRLVGSSAISG	VVTGGDPFYDRFLWFRLVGSSAISG	1.0	1.0	unscreened	-	3881_2:241697798-241697798 G>A_VVTGGDPFYDRFLWFRLVGSSAISG
19:9091141-9091141 C>T	0.0	3881	MELANOMA	-	-	-	2	MUC16	NM_024690,p.R225K|uc002mkp.3,p.R225K|ENST00000397910,p.R225K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G674A	p.R225K	AETTVTDSHTPGRTNPSFGTLYSSF	AETTVTDSHTPGKTNPSFGTLYSSF	1.0	10.0	unscreened	-	3881_19:9091141-9091141 C>T_AETTVTDSHTPGKTNPSFGTLYSSF
11:67164974-67164974 C>T	0.0	3881	MELANOMA	-	-	-	-	RAD9A	NM_001243224,p.R298C|NM_004584,p.R374C|uc021qmg.1,p.R298C|uc001okr.3,p.R374C|ENST00000307980,p.R374C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qmg.1	nonsynonymous SNV	exon8	c.C892T	p.R298C	RSLFFGSILAPVRSPQGPSPVLAED	RSLFFGSILAPVCSPQGPSPVLAED	6.0	1.0	unscreened	-	3881_11:67164974-67164974 C>T_RSLFFGSILAPVCSPQGPSPVLAED
4:25020816-25020816 A>G	0.0	3881	MELANOMA	-	-	-	-	LGI2	ENST00000382114,p.F153S|uc003grf.2,p.F153S|NM_018176,p.F153S	protein_coding	uc003grf.2	nonsynonymous SNV	exon5	c.T458C	p.F153S	ANNHIKALPRDVFSDLDSLIELDLR	ANNHIKALPRDVSSDLDSLIELDLR	3.0	9.0	unscreened	-	3881_4:25020816-25020816 A>G_ANNHIKALPRDVSSDLDSLIELDLR
8:24211304-24211304 C>T	0.0	3881	MELANOMA	-	-	-	-	ADAM28	ENST00000265769,p.P756S|uc003xdy.3,p.P756S|NM_014265,p.P756S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xdy.3	nonsynonymous SNV	exon22	c.C2266T	p.P756S	PPASFHKDTNALPPTVFKDNPVSTP	PPASFHKDTNALSPTVFKDNPVSTP	6.0	7.0	unscreened	-	3881_8:24211304-24211304 C>T_PPASFHKDTNALSPTVFKDNPVSTP
20:33575700-33575700 G>A	0.0	3881	MELANOMA	-	-	-	-	MYH7B	NM_020884,p.G509R|ENST00000262873,p.G509R|uc002xbi.2,p.G509R	retained_intron, protein_coding, processed_transcript	uc002xbi.2	nonsynonymous SNV	exon18	c.G1525A	p.G509R	PRQFFIGVLDIAGFEIFEFNSFEQL	PRQFFIGVLDIARFEIFEFNSFEQL	4.0	2.0	unscreened	-	3881_20:33575700-33575700 G>A_PRQFFIGVLDIARFEIFEFNSFEQL
11:5221488-5221488 G>A	0.0	3881	MELANOMA	-	-	-	-	OR51V1	NM_001004760,p.S148F|ENST00000321255,p.S148F|uc010qyz.2,p.S148F	protein_coding	uc010qyz.2	nonsynonymous SNV	exon1	c.C443T	p.S148F	CNPLRYSSILTNSRIIKIGLTIIGR	CNPLRYSSILTNFRIIKIGLTIIGR	1.0	9.0	unscreened	-	3881_11:5221488-5221488 G>A_CNPLRYSSILTNFRIIKIGLTIIGR
4:52861777-52861777 G>A	0.0	3881	MELANOMA	-	-	-	-	LRRC66	NM_001024611,p.P471S|uc003gzi.3,p.P471S|ENST00000343457,p.P471S	protein_coding	uc003gzi.3	nonsynonymous SNV	exon4	c.C1411T	p.P471S	WVTQPHPHATVIPDRTLGRSRKDPG	WVTQPHPHATVISDRTLGRSRKDPG	2.0	2.0	unscreened	-	3881_4:52861777-52861777 G>A_WVTQPHPHATVISDRTLGRSRKDPG
9:138439814-138439814 G>A	0.0	3881	MELANOMA	-	-	-	-	OBP2A	uc004cgb.3,p.M125I|ENST00000371776,p.M125I|NM_014582,p.M125I|ENST00000539850,p.M125I	protein_coding, nonsense_mediated_decay	uc004cgb.3	nonsynonymous SNV	exon4	c.G375A	p.M125I	YCKDQRRGGLRYMGKLVGRNPNTNL	YCKDQRRGGLRYIGKLVGRNPNTNL	1.0	10.0	unscreened	-	3881_9:138439814-138439814 G>A_YCKDQRRGGLRYIGKLVGRNPNTNL
17:41345579-41345579 C>T	1.0	3881	MELANOMA	-	-	-	-	NBR1	uc010whv.2,p.S483F|uc010czd.3,p.S483F|NM_031862,p.S483F|NM_005899,p.S483F|uc010whx.1,p.S292F|ENST00000589872,p.S483F|NM_001291571,p.S483F|NM_001291572,p.S462F|ENST00000341165,p.S483F|uc010whu.2,p.S483F|ENST00000590996,p.S483F|ENST00000389312,p.S483F|uc010diz.3,p.S483F|ENST00000422280,p.S483F|uc010whw.2,p.S462F|ENST00000542611,p.S462F	retained_intron, protein_coding	uc010whx.1	nonsynonymous SNV	exon4	c.C875T	p.S292F	RVWCSIIVDPFPSEESPDNIEKGMI	RVWCSIIVDPFPFEESPDNIEKGMI	10.0	7.0	unscreened	-	3881_17:41345579-41345579 C>T_RVWCSIIVDPFPFEESPDNIEKGMI
8:125047585-125047585 C>T	0.0	3881	MELANOMA	-	-	-	-	FER1L6	ENST00000522917,p.S785F|uc003yqw.3,p.S785F|NM_001039112,p.S785F|ENST00000399018,p.S785F	protein_coding	uc003yqw.3	nonsynonymous SNV	exon19	c.C2354T	p.S785F	VQAKVDVYLWLGSIKHASAILDNLP	VQAKVDVYLWLGFIKHASAILDNLP	1.0	5.0	unscreened	-	3881_8:125047585-125047585 C>T_VQAKVDVYLWLGFIKHASAILDNLP
19:36590305-36590305 G>A	1.0	3881	MELANOMA	-	-	-	-	WDR62	uc002odd.2,p.G842E|uc002odc.2,p.G842E|NM_173636,p.G842E|ENST00000401500,p.G842E|NM_001083961,p.G842E|ENST00000270301,p.G842E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002odd.2	nonsynonymous SNV	exon22	c.G2525A	p.G842E	NGKLPLWAKRLLGDDDVADGLAFHA	NGKLPLWAKRLLEDDDVADGLAFHA	5.0	7.0	unscreened	-	3881_19:36590305-36590305 G>A_NGKLPLWAKRLLEDDDVADGLAFHA
11:99690416-99690416 C>T	0.0	3881	MELANOMA	-	-	-	-	CNTN5	NM_001243270,p.S66L|uc001pfz.3,p.S66L|NM_014361,p.S66L|ENST00000279463,p.S66L|uc009ywv.2,p.S66L|uc001pga.3,p.S66L|uc021qpb.1,p.S66L|ENST00000528682,p.S66L|ENST00000524871,p.S66L|ENST00000527185,p.S66L|NM_001243271,p.S66L	retained_intron, protein_coding, processed_transcript	uc021qpb.1	nonsynonymous SNV	exon3	c.C197T	p.S66L	YSSPSLGTLSASSPSWLGAAQNYYS	YSSPSLGTLSASLPSWLGAAQNYYS	1.0	1.0	unscreened	-	3881_11:99690416-99690416 C>T_YSSPSLGTLSASLPSWLGAAQNYYS
2:131487358-131487358 G>A	0.0	3881	MELANOMA	-	-	-	-	GPR148	NM_207364,p.G212R|uc002trv.2,p.G212R|ENST00000309926,p.G212R	protein_coding	uc002trv.2	nonsynonymous SNV	exon1	c.G634A	p.G212R	SYILPPSMGTQPGCGLLVIVTYTSI	SYILPPSMGTQPRCGLLVIVTYTSI	1.0	8.0	unscreened	-	3881_2:131487358-131487358 G>A_SYILPPSMGTQPRCGLLVIVTYTSI
17:51901871-51901871 C>T	0.0	3881	MELANOMA	-	-	-	-	KIF2B	ENST00000268919,p.P493S|uc002iua.2,p.P493S|NM_032559,p.P493S	protein_coding	uc002iua.2	nonsynonymous SNV	exon1	c.C1477T	p.P493S	CILALGQNKPHTPFRASKLTLVLRD	CILALGQNKPHTSFRASKLTLVLRD	1.0	7.0	unscreened	-	3881_17:51901871-51901871 C>T_CILALGQNKPHTSFRASKLTLVLRD
11:92714847-92714847 G>A	0.0	3881	MELANOMA	-	-	-	-	MTNR1B	NM_005959,p.R153Q|uc001pdk.1,p.R153Q|ENST00000257068,p.R153Q	protein_coding, nonsense_mediated_decay	uc001pdk.1	nonsynonymous SNV	exon2	c.G458A	p.R153Q	YICHSMAYHRIYRRWHTPLHICLIW	YICHSMAYHRIYQRWHTPLHICLIW	1.0	1.0	unscreened	-	3881_11:92714847-92714847 G>A_YICHSMAYHRIYQRWHTPLHICLIW
3:124826819-124826819 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC12A8	uc003ehw.4,p.S433F|uc003eht.4,p.S205F|ENST00000393469,p.S404F|ENST00000430155,p.S205F|NM_024628,p.S404F|ENST00000469902,p.S404F|ENST00000314584,p.S157F|uc010hry.3,p.S157F|NM_001195483,p.S404F|ENST00000423114,p.S433F|uc003ehv.4,p.S404F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hry.3	nonsynonymous SNV	exon5	c.C470T	p.S157F	MLTYVAVDYSYFSLSMCSCSLTPVP	MLTYVAVDYSYFFLSMCSCSLTPVP	4.0	1.0	unscreened	-	3881_3:124826819-124826819 G>A_MLTYVAVDYSYFFLSMCSCSLTPVP
10:52580373-52580373 G>A	0.0	3881	MELANOMA	-	-	ID=COSM918825,COSM918826;OCCURENCE=1(endometrium)	2	A1CF	NM_014576,p.A269V|NM_138933,p.A277V|uc001jjj.3,p.A269V|NM_001198819,p.A277V|ENST00000395495,p.A214V|uc010qhn.2,p.A277V|NM_138932,p.A269V|ENST00000395489,p.A262V|uc010qho.2,p.A277V|ENST00000373995,p.A277V|ENST00000374001,p.A269V|uc009xov.3,p.A269V|uc001jji.3,p.A269V|NM_001198818,p.A269V|ENST00000373997,p.A269V|uc001jjh.3,p.A277V|NM_001198820,p.A277V|ENST00000373993,p.A269V|ENST00000282641,p.A269V	protein_coding, processed_transcript	uc010qho.2	nonsynonymous SNV	exon10	c.C830T	p.A277V	GAVERVKKIRDYAFVHFSNREDAVE	GAVERVKKIRDYVFVHFSNREDAVE	1.0	1.0	unscreened	-	3881_10:52580373-52580373 G>A_GAVERVKKIRDYVFVHFSNREDAVE
6:31963519-31963519 C>T	0.0	3881	MELANOMA	-	-	-	-	C4A,C4B,C4B_2	uc011doy.2,p.R1060W|NM_001252204,p.R1060W|ENST00000498271,p.R1060W|ENST00000428956,p.R1060W|NM_007293,p.R1060W|uc011doz.2,p.R1060W|NM_001002029,p.R1060W|NM_001242823,p.R1060W	retained_intron, protein_coding, processed_transcript	uc011doz.2	nonsynonymous SNV	exon25	c.C3178T	p.R1060W	LIQKGYMRIQQFRKADGSYAAWLSR	LIQKGYMRIQQFWKADGSYAAWLSR	5.0	1.0	unscreened	-	3881_6:31963519-31963519 C>T_LIQKGYMRIQQFWKADGSYAAWLSR
1:177245342-177245342 G>A	0.0	3881	MELANOMA	-	-	-	-	BRINP2	uc010pna.1,p.V12M	protein_coding, processed_transcript	uc010pna.1	nonsynonymous SNV	exon5	c.G34A	p.V12M	MPTLCSSFGLQVLLPEYLRERFVA	MPTLCSSFGLQMLLPEYLRERFVA	1.0	1.0	unscreened	-	3881_1:177245342-177245342 G>A_MPTLCSSFGLQMLLPEYLRERFVA
10:135439007-135439007 G>A	0.0	3881	MELANOMA	-	-	-	-	FRG2B	ENST00000443774,p.H146Y|uc010qvg.2,p.H145Y|ENST00000425520,p.H145Y|NM_001080998,p.H145Y	protein_coding, processed_transcript	uc010qvg.2	nonsynonymous SNV	exon4	c.C433T	p.H145Y	HNSEIQETCDAHHRGRSRACTGRSK	HNSEIQETCDAHYRGRSRACTGRSK	2.0	1.0	unscreened	-	3881_10:135439007-135439007 G>A_HNSEIQETCDAHYRGRSRACTGRSK
1:158450355-158450355 C>T	0.0	3881	MELANOMA	-	-	-	-	OR10R2	ENST00000368152,p.P230S|NM_001004472,p.P230S|uc010pik.2,p.P230S	protein_coding	uc010pik.2	nonsynonymous SNV	exon1	c.C688T	p.P230S	VIFICGVLVLVVPFLFICVSYLCIL	VIFICGVLVLVVSFLFICVSYLCIL	1.0	10.0	unscreened	-	3881_1:158450355-158450355 C>T_VIFICGVLVLVVSFLFICVSYLCIL
1:97544551-97544551 G>A	0.0	3881	MELANOMA	-	-	-	-	DPYD	ENST00000370192,p.S1020F|NM_000110,p.S1020F|uc001drv.3,p.S1020F	protein_coding, processed_transcript	uc001drv.3	nonsynonymous SNV	exon23	c.C3059T	p.S1020F	TTPYEPKRGVPLSVNPVC	TTPYEPKRGVPLFVNPVC	7.0	6.0	unscreened	-	3881_1:97544551-97544551 G>A_TTPYEPKRGVPLFVNPVC
2:54482403-54482403 A>C	0.0	3881	MELANOMA	-	-	-	-	TSPYL6	ENST00000317802,p.F296V|NM_001003937,p.F296V|uc002rxr.2,p.F296V	protein_coding	uc002rxr.2	nonsynonymous SNV	exon1	c.T886G	p.F296V	ELRHPRTGCKFKFFFQRNPYFRNKL	ELRHPRTGCKFKVFFQRNPYFRNKL	1.0	8.0	unscreened	-	3881_2:54482403-54482403 A>C_ELRHPRTGCKFKVFFQRNPYFRNKL
X:142795521-142795521 T>A	0.0	3881	MELANOMA	-	-	-	-	SPANXN2	NM_001009615,p.I53L|uc004fbz.3,p.I53L|ENST00000370498,p.I53L	protein_coding	uc004fbz.3	nonsynonymous SNV	exon2	c.A157T	p.I53L	LQKTKTIEYLTIIVYYYRKHTKINS	LQKTKTIEYLTILVYYYRKHTKINS	1.0	7.0	unscreened	-	3881_X:142795521-142795521 T>A_LQKTKTIEYLTILVYYYRKHTKINS
11:133792580-133792580 G>A	0.0	3881	MELANOMA	-	-	-	-	IGSF9B	uc001qgy.1,p.P564L|uc031qfh.1,p.P722L|ENST00000321016,p.P722L|NM_001277285,p.P722L|ENST00000533871,p.P722L	protein_coding	uc031qfh.1	nonsynonymous SNV	exon16	c.C2165T	p.P722L	PQPDLTEDGLARPVLAGIVATICFL	PQPDLTEDGLARLVLAGIVATICFL	5.0	10.0	unscreened	-	3881_11:133792580-133792580 G>A_PQPDLTEDGLARLVLAGIVATICFL
12:124352657-124352657 G>A	0.0	3881	MELANOMA	-	-	-	-	DNAH10	NM_207437,p.E2386K|ENST00000409039,p.E2386K|uc001uft.4,p.E2386K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon42	c.G7156A	p.E2386K	TVDTEGVWANPGELPGQLPTLYDFH	TVDTEGVWANPGKLPGQLPTLYDFH	1.0	1.0	unscreened	-	3881_12:124352657-124352657 G>A_TVDTEGVWANPGKLPGQLPTLYDFH
X:73812621-73812621 C>T	0.0	3881	MELANOMA	-	-	-	-	RLIM	ENST00000332687,p.E177K|uc004ebu.3,p.E177K|NM_183353,p.E177K|ENST00000349225,p.E177K|uc004ebw.3,p.E177K|NM_016120,p.E177K	protein_coding	uc004ebw.3	nonsynonymous SNV	exon4	c.G529A	p.E177K	GENVENNSQRQVENPRSESTSARPS	GENVENNSQRQVKNPRSESTSARPS	9.0	1.0	unscreened	-	3881_X:73812621-73812621 C>T_GENVENNSQRQVKNPRSESTSARPS
11:7091540-7091540 C>T	0.0	3881	MELANOMA	-	-	-	-	NLRP14	NM_176822,p.S1000F|ENST00000299481,p.S1000F|uc001mfb.1,p.S1000F	protein_coding	uc001mfb.1	nonsynonymous SNV	exon11	c.C2999T	p.S1000F	IQRLGLEYCGLTSLCCQDLSSALIC	IQRLGLEYCGLTFLCCQDLSSALIC	1.0	7.0	unscreened	-	3881_11:7091540-7091540 C>T_IQRLGLEYCGLTFLCCQDLSSALIC
X:34149842-34149842 C>T	0.0	3881	MELANOMA	-	-	-	-	FAM47A	uc004ddg.3,p.G185E|ENST00000346193,p.G185E|NM_203408,p.G185E	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.G554A	p.G185E	TEVPTEPGKHPCGEFCLKPPETPVS	TEVPTEPGKHPCEEFCLKPPETPVS	1.0	10.0	unscreened	-	3881_X:34149842-34149842 C>T_TEVPTEPGKHPCEEFCLKPPETPVS
4:70455284-70455284 A>G	0.0	3881	MELANOMA	-	-	-	-	UGT2A1,UGT2A2	uc011caq.2,p.F630L|NM_001301233,p.F429L|NM_001252274,p.F630L|NM_001301239,p.F420L|NM_001105677,p.F473L|ENST00000512704,p.F420L|uc010ihs.3,p.F473L|uc010iht.3,p.F420L|NM_001252275,p.F464L|ENST00000286604,p.F464L|NM_006798,p.F464L|uc021xox.1,p.F429L|ENST00000457664,p.F473L|ENST00000514019,p.F630L|uc003hem.4,p.F464L|uc010ihu.3,p.F464L|ENST00000503640,p.F464L	 protein_coding, processed_transcript,retained_intron	uc021xox.1	nonsynonymous SNV	exon5	c.T1285C	p.F429L	VKPLDRAVFWIEFVMRHKGAKHLRV	VKPLDRAVFWIELVMRHKGAKHLRV	1.0	1.0	unscreened	-	3881_4:70455284-70455284 A>G_VKPLDRAVFWIELVMRHKGAKHLRV
11:60777188-60777188 G>A	0.0	3881	MELANOMA	-	-	-	-	CD6	ENST00000344028,p.G309E|ENST00000344931,p.G309E|NM_001254750,p.G309E|uc001nqp.3,p.G309E|uc001nqt.3,p.G309E|uc001nqr.3,p.G309E|ENST00000452451,p.G309E|ENST00000352009,p.G309E|ENST00000346437,p.G309E|ENST00000313421,p.G309E|NM_006725,p.G309E|uc001nqq.3,p.G309E|NM_001254751,p.G309E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nqt.3	nonsynonymous SNV	exon5	c.G926A	p.G309E	SEAKVLCQSLGCGTAVERPKGLPHS	SEAKVLCQSLGCETAVERPKGLPHS	5.0	2.0	unscreened	-	3881_11:60777188-60777188 G>A_SEAKVLCQSLGCETAVERPKGLPHS
15:89401647-89401647 C>T	0.0	3881	MELANOMA	-	-	-	-	ACAN	NM_001135,p.S1944F|NM_013227,p.S1944F|ENST00000561243,p.S1944F|uc010upp.1,p.S1944F|ENST00000439576,p.S1944F|ENST00000352105,p.S1944F|ENST00000559004,p.S1944F|uc010upo.1,p.S1944F	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.C5831T	p.S1944F	PTVSLVDRTLVESVTQAPTAQEAGE	PTVSLVDRTLVEFVTQAPTAQEAGE	3.0	2.0	unscreened	-	3881_15:89401647-89401647 C>T_PTVSLVDRTLVEFVTQAPTAQEAGE
17:76089832-76089832 C>T	1.0	3881	MELANOMA	-	-	-	-	TNRC6C	ENST00000544502,p.L1429F|NM_001142640,p.L1429F|uc002juf.2,p.L1429F|ENST00000335749,p.L1429F|ENST00000588847,p.L1429F	retained_intron, protein_coding	uc002juf.2	nonsynonymous SNV	exon17	c.C4285T	p.L1429F	INTTIQDVNRYLLKSGGSSPPSSQN	INTTIQDVNRYLFKSGGSSPPSSQN	7.0	5.0	unscreened	-	3881_17:76089832-76089832 C>T_INTTIQDVNRYLFKSGGSSPPSSQN
4:164247214-164247214 G>A	0.0	3881	MELANOMA	-	-	-	-	NPY1R	uc003iqm.2,p.L165F|uc021xtv.1,p.L165F|ENST00000296533,p.L165F|NM_000909,p.L165F	protein_coding	uc021xtv.1	nonsynonymous SNV	exon1	c.C493T	p.L165F	RHAYVGIAVIWVLAVASSLPFLIYQ	RHAYVGIAVIWVFAVASSLPFLIYQ	1.0	10.0	unscreened	-	3881_4:164247214-164247214 G>A_RHAYVGIAVIWVFAVASSLPFLIYQ
X:150348275-150348275 G>A	0.0	3881	MELANOMA	-	-	-	-	GPR50	NM_004224,p.D74N|ENST00000218316,p.D74N|uc010ntg.2,p.D74N|uc011myc.2,p.D74N	protein_coding	uc011myc.2	nonsynonymous SNV	exon2	c.G220A	p.D74N	SGNIFVVSLSVADMLVAIYPYPLML	SGNIFVVSLSVANMLVAIYPYPLML	1.0	3.0	unscreened	-	3881_X:150348275-150348275 G>A_SGNIFVVSLSVANMLVAIYPYPLML
11:64822021-64822021 G>A	0.0	3881	MELANOMA	-	-	-	-	NAALADL1	ENST00000340252,p.P265S|ENST00000356632,p.P265S|ENST00000355369,p.P265S|NM_005468,p.P265S|ENST00000355721,p.P224S|uc001ocn.3,p.P265S|ENST00000339885,p.P265S|ENST00000358658,p.P265S	retained_intron, protein_coding, nonsense_mediated_decay	uc001ocn.3	nonsynonymous SNV	exon5	c.C793T	p.P265S	FGDPLTPYLPAVPSSFRVDLANVSG	FGDPLTPYLPAVSSSFRVDLANVSG	4.0	9.0	unscreened	-	3881_11:64822021-64822021 G>A_FGDPLTPYLPAVSSSFRVDLANVSG
2:38298254-38298254 G>A	0.0	3881	MELANOMA	-	-	-	-	CYP1B1	ENST00000260630,p.P415S|ENST00000407341,p.P415S|uc002rqo.2,p.P415S|NM_000104,p.P415S	protein_coding, processed_transcript	uc002rqo.2	nonsynonymous SNV	exon3	c.C1243T	p.P415S	TTANTSVLGYHIPKDTVVFVNQWSV	TTANTSVLGYHISKDTVVFVNQWSV	6.0	2.0	unscreened	-	3881_2:38298254-38298254 G>A_TTANTSVLGYHISKDTVVFVNQWSV
13:26125579-26125579 C>T	0.0	3881	MELANOMA	-	-	-	-	ATP8A2	uc001uqk.3,p.S332L|ENST00000281620,p.S172L|ENST00000255283,p.S292L|ENST00000381655,p.S332L|uc001uql.1,p.S292L|uc010tdi.2,p.S292L|NM_016529,p.S332L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdi.2	nonsynonymous SNV	exon11	c.C875T	p.S292L	LFGILLVMALVSSAGALYWNRSHGE	LFGILLVMALVSLAGALYWNRSHGE	5.0	4.0	unscreened	-	3881_13:26125579-26125579 C>T_LFGILLVMALVSLAGALYWNRSHGE
4:167021975-167021975 C>T	0.0	3881	MELANOMA	-	-	-	-	TLL1	uc003irh.2,p.H997Y|NM_012464,p.H997Y|uc011cjo.2,p.H821Y|uc011cjn.2,p.H1020Y|ENST00000507499,p.H1020Y|ENST00000061240,p.H997Y	protein_coding, nonsense_mediated_decay	uc011cjo.2	nonsynonymous SNV	exon21	c.C2461T	p.H821Y	FHTDDTINKKGFHIRYKSIRYPDTT	FHTDDTINKKGFYIRYKSIRYPDTT	2.0	1.0	unscreened	-	3881_4:167021975-167021975 C>T_FHTDDTINKKGFYIRYKSIRYPDTT
11:46783639-46783639 G>A	1.0	3881	MELANOMA	-	-	-	-	CKAP5	uc001ndh.1,p.R307C|ENST00000415402,p.R1378C|uc001ndi.2,p.R1378C|uc001ndj.2,p.R1378C|uc009ylg.1,p.R1264C|ENST00000312055,p.R1378C|ENST00000529230,p.R1378C|NM_014756,p.R1378C|NM_001008938,p.R1378C|ENST00000354558,p.R1378C	retained_intron, protein_coding, processed_transcript	uc009ylg.1	nonsynonymous SNV	exon30	c.C3790T	p.R1264C	KALKEIAVHIGDRDNAVRNAALNTI	KALKEIAVHIGDCDNAVRNAALNTI	9.0	3.0	unscreened	-	3881_11:46783639-46783639 G>A_KALKEIAVHIGDCDNAVRNAALNTI
2:71906294-71906294 C>T	0.0	3881	MELANOMA	-	-	-	-	DYSF	ENST00000410020,p.L1998F|uc010fel.3,p.L1946F|ENST00000409762,p.L1976F|uc002sie.3,p.L1959F|ENST00000258104,p.L1959F|NM_001130455,p.L1960F|uc010fei.3,p.L1976F|uc010fek.3,p.L1977F|ENST00000394120,p.L1960F|NM_001130984,p.L1967F|ENST00000410041,p.L1977F|NM_001130982,p.L1991F|uc010feo.3,p.L1991F|ENST00000429174,p.L1980F|NM_001130986,p.L1946F|uc010fej.3,p.L1967F|NM_001130987,p.L1998F|uc010fen.3,p.L1998F|uc010fee.3,p.L1980F|NM_001130983,p.L1981F|NM_001130976,p.L1945F|ENST00000409651,p.L1991F|ENST00000409366,p.L1981F|ENST00000409582,p.L1997F|NM_001130981,p.L1997F|NM_003494,p.L1959F|NM_001130978,p.L1980F|NM_001130977,p.L1966F|uc010feg.3,p.L1990F|uc010yqz.2,p.L720F|NM_001130985,p.L1977F|uc002sif.3,p.L1960F|uc002sig.4,p.L1945F|uc010fem.3,p.L1981F|uc010yqy.2,p.L840F|NM_001130980,p.L1976F|uc010feh.3,p.L1966F|NM_001130979,p.L1990F|ENST00000409744,p.L1967F|ENST00000413539,p.L1990F|uc010fef.3,p.L1997F	protein_coding, processed_transcript	uc010yqz.2	nonsynonymous SNV	exon19	c.C2158T	p.L720F	LDDAFHPEWFVSLFEQKTVKGWWPC	LDDAFHPEWFVSFFEQKTVKGWWPC	5.0	8.0	unscreened	-	3881_2:71906294-71906294 C>T_LDDAFHPEWFVSFFEQKTVKGWWPC
15:40655966-40655966 C>T	0.0	3881	MELANOMA	-	-	-	-	DISP2	uc001zlk.1,p.P87L|ENST00000267889,p.P87L|NM_033510,p.P87L	retained_intron, protein_coding	uc001zlk.1	nonsynonymous SNV	exon2	c.C260T	p.P87L	TTSTLQPVGPSSPLAPAHFTYPRAL	TTSTLQPVGPSSLLAPAHFTYPRAL	2.0	9.0	unscreened	-	3881_15:40655966-40655966 C>T_TTSTLQPVGPSSLLAPAHFTYPRAL
19:55401037-55401037 G>A	0.0	3881	MELANOMA	-	-	-	-	FCAR	NM_133274,p.D188N|ENST00000391723,p.D188N|uc002qhz.1,p.D188N	protein_coding, processed_transcript	uc002qhz.1	nonsynonymous SNV	exon4	c.G562A	p.D188N	SGIYRLHPPRLHDAELDPHGRGRTG	SGIYRLHPPRLHNAELDPHGRGRTG	3.0	5.0	unscreened	-	3881_19:55401037-55401037 G>A_SGIYRLHPPRLHNAELDPHGRGRTG
1:205388480-205388480 G>A	0.0	3881	MELANOMA	-	-	-	-	LEMD1	uc001hcj.2,p.P28L|NM_001199050,p.P28L|ENST00000367154,p.P28L|uc001hci.2,p.P28L|ENST00000367153,p.P28L|ENST00000391936,p.P28L|NM_001001552,p.P28L	protein_coding, processed_transcript	uc001hcj.2	nonsynonymous SNV	exon3	c.C83T	p.P28L	LEKLGFSPGPILPSTRKLYEKKLVQ	LEKLGFSPGPILLSTRKLYEKKLVQ	5.0	1.0	unscreened	-	3881_1:205388480-205388480 G>A_LEKLGFSPGPILLSTRKLYEKKLVQ
6:167755078-167755078 G>A	0.0	3881	MELANOMA	-	-	-	-	TTLL2	uc003qvs.1,p.E564K|NM_031949,p.E564K|ENST00000515138,p.E564K|ENST00000239587,p.E564K	protein_coding, nonsense_mediated_decay	uc003qvs.1	nonsynonymous SNV	exon3	c.G1690A	p.E564K	QAGNFVLVFPFNEATLGASRNGLNV	QAGNFVLVFPFNKATLGASRNGLNV	1.0	10.0	unscreened	-	3881_6:167755078-167755078 G>A_QAGNFVLVFPFNKATLGASRNGLNV
11:5775992-5775992 G>A	0.0	3881	MELANOMA	-	-	-	-	OR52N4	uc001mbu.3,p.D8N|ENST00000317254,p.D8N|NM_001005175,p.D8N	protein_coding	uc001mbu.3	nonsynonymous SNV	exon1	c.G22A	p.D8N	MLTLNKTDLIPASFILNGVP	MLTLNKTNLIPASFILNGVP	1.0	8.0	unscreened	-	3881_11:5775992-5775992 G>A_MLTLNKTNLIPASFILNGVP
6:52697667-52697667 G>A	0.0	3881	MELANOMA	-	-	-	-	GSTA5	ENST00000284562,p.P179L|uc003pba.1,p.P179L|ENST00000370989,p.P179L|NM_153699,p.P179L	protein_coding, processed_transcript	uc003pba.1	nonsynonymous SNV	exon6	c.C536T	p.P179L	VEELDSSLISSFPLLKALKTRISNL	VEELDSSLISSFLLLKALKTRISNL	1.0	9.0	unscreened	-	3881_6:52697667-52697667 G>A_VEELDSSLISSFLLLKALKTRISNL
14:20586115-20586115 C>T	0.0	3881	MELANOMA	-	-	-	-	OR4K17	uc001vwo.1,p.L184F|NM_001004715,p.L184F|ENST00000315543,p.L184F	protein_coding	uc001vwo.1	nonsynonymous SNV	exon1	c.C550T	p.L184F	CVLLVVTSWLLGLLHSGFQIPFAVN	CVLLVVTSWLLGFLHSGFQIPFAVN	1.0	3.0	unscreened	-	3881_14:20586115-20586115 C>T_CVLLVVTSWLLGFLHSGFQIPFAVN
13:113732734-113732734 C>T	0.0	3881	MELANOMA	-	-	-	-	MCF2L	uc010tjs.2,p.P571L|ENST00000423482,p.P571L|uc031qnl.1,p.P577L|ENST00000421756,p.P577L|ENST00000375597,p.P571L|ENST00000535094,p.P573L|ENST00000375608,p.P603L|ENST00000397030,p.P606L|ENST00000442652,p.P603L|ENST00000375601,p.P577L|uc010tjr.2,p.P573L|NM_001112732,p.P573L|uc001vst.1,p.P535L|ENST00000434480,p.P579L|NM_024979,p.P571L|ENST00000375604,p.P630L|uc001vss.4,p.P571L|uc031qnk.1,p.P606L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qnl.1	nonsynonymous SNV	exon14	c.C1730T	p.P577L	NSSSEGGALRRGPYRRAKSEMSESR	NSSSEGGALRRGLYRRAKSEMSESR	6.0	4.0	unscreened	-	3881_13:113732734-113732734 C>T_NSSSEGGALRRGLYRRAKSEMSESR
19:6697724-6697724 C>T	0.0	3881	MELANOMA	-	-	-	-	C3	NM_000064,p.R841Q|ENST00000245907,p.R841Q|uc002mfm.3,p.R841Q	retained_intron, protein_coding, processed_transcript	uc002mfm.3	nonsynonymous SNV	exon20	c.G2522A	p.R841Q	FFIDLRLPYSVVRNEQVEIRAVLYN	FFIDLRLPYSVVQNEQVEIRAVLYN	10.0	9.0	unscreened	-	3881_19:6697724-6697724 C>T_FFIDLRLPYSVVQNEQVEIRAVLYN
18:52937080-52937080 C>T	0.0	3881	MELANOMA	-	-	-	-	TCF4	uc002lgc.4,p.G223R	retained_intron, protein_coding, processed_transcript	uc002lgc.4	nonsynonymous SNV	exon8	c.G667A	p.G223R	HYSTSSCTPPANGTDSIMGESQKCQ	HYSTSSCTPPANRTDSIMGESQKCQ	8.0	6.0	unscreened	-	3881_18:52937080-52937080 C>T_HYSTSSCTPPANRTDSIMGESQKCQ
3:46062922-46062922 G>A	0.0	3881	MELANOMA	0.0037	-	-	-	XCR1	uc021wwx.1,p.S173L|NM_001024644,p.S173L|ENST00000542109,p.S173L|ENST00000309285,p.S173L|uc003cpe.3,p.S173L|uc003cpf.3,p.S173L|NM_005283,p.S173L	protein_coding	uc021wwx.1	nonsynonymous SNV	exon1	c.C518T	p.S173L	SILDTIFHKVLSSGCDYSELTWYLT	SILDTIFHKVLSLGCDYSELTWYLT	3.0	9.0	unscreened	-	3881_3:46062922-46062922 G>A_SILDTIFHKVLSLGCDYSELTWYLT
19:6479911-6479911 G>A	0.0	3881	MELANOMA	-	-	-	-	DENND1C	NM_024898,p.P29S|ENST00000381480,p.P29S|uc002mfe.3,p.P29S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mfe.3	nonsynonymous SNV	exon3	c.C85T	p.P29S	FEAACPASLQEDPPILRQFPPDFRD	FEAACPASLQEDSPILRQFPPDFRD	5.0	9.0	unscreened	-	3881_19:6479911-6479911 G>A_FEAACPASLQEDSPILRQFPPDFRD
7:143701865-143701865 G>A	0.0	3881	MELANOMA	-	-	-	-	OR6B1	uc003wdt.1,p.R259Q|ENST00000408922,p.R259Q|NM_001005281,p.R259Q	protein_coding	uc003wdt.1	nonsynonymous SNV	exon1	c.G776A	p.R259Q	TIFYSAIIFMYARPRVIHAFNMNKI	TIFYSAIIFMYAQPRVIHAFNMNKI	1.0	4.0	unscreened	-	3881_7:143701865-143701865 G>A_TIFYSAIIFMYAQPRVIHAFNMNKI
18:52937080-52937080 C>T	0.0	3881	MELANOMA	-	-	-	-	TCF4	NM_001243233,p.G172R|ENST00000537578,p.G278R|ENST00000565018,p.G302R|uc021uki.1,p.G231R|uc021ukh.1,p.G142R|uc021ukg.1,p.G142R|ENST00000564228,p.G231R|uc002lga.3,p.G404R|uc010dpi.3,p.G308R|NM_001083962,p.G302R|uc021ukk.1,p.G242R|uc010dph.1,p.G302R|uc010xdy.1,p.G278R|uc010xdw.1,p.G172R|ENST00000564403,p.G308R|ENST00000356073,p.G302R|ENST00000561992,p.G172R|uc021ukj.1,p.G242R|NM_003199,p.G302R|ENST00000570287,p.G142R|ENST00000540999,p.G278R|NM_001243236,p.G142R|ENST00000568740,p.G277R|uc010xdx.1,p.G278R|NM_001243231,p.G260R|ENST00000537856,p.G172R|uc002lfz.2,p.G302R|NM_001243234,p.G142R|NM_001243227,p.G278R|ENST00000566286,p.G300R|ENST00000566279,p.G242R|ENST00000567880,p.G242R|ENST00000544241,p.G231R|ENST00000543082,p.G260R|NM_001243230,p.G300R|uc002lfx.2,p.G231R|ENST00000570177,p.G172R|ENST00000354452,p.G302R|uc010xdv.1,p.G172R|NM_001243226,p.G404R|uc021ukl.1,p.G300R|uc002lfw.4,p.G142R|ENST00000457482,p.G142R|NM_001243232,p.G231R|ENST00000398339,p.G404R|uc010xdu.1,p.G172R|uc002lfy.2,p.G260R|ENST00000568673,p.G278R|ENST00000561831,p.G142R|NM_001243228,p.G308R|ENST00000564999,p.G302R|NM_001243235,p.G142R	retained_intron, protein_coding, processed_transcript	uc021ukl.1	nonsynonymous SNV	exon10	c.G898A	p.G300R	HYSTSSCTPPANGTDSIMANRGSGA	HYSTSSCTPPANRTDSIMANRGSGA	8.0	6.0	unscreened	-	3881_18:52937080-52937080 C>T_HYSTSSCTPPANRTDSIMANRGSGA
17:8215404-8215404 C>T	0.0	3881	MELANOMA	-	-	-	-	ARHGEF15	ENST00000421050,p.P16L|ENST00000361926,p.P16L|uc002gld.3,p.P16L|ENST00000583529,p.P16L|uc002glb.2,p.P16L|NM_173728,p.P16L|uc002glc.3,p.P16L|uc010vuw.2,p.P16L|ENST00000579439,p.P16L|NM_025014,p.P16L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vuw.2	nonsynonymous SNV	exon1	c.C47T	p.P16L	QSLPAATPPTQKPPRIIRPRPPSRS	QSLPAATPPTQKLPRIIRPRPPSRS	4.0	9.0	unscreened	-	3881_17:8215404-8215404 C>T_QSLPAATPPTQKLPRIIRPRPPSRS
2:29917728-29917728 C>T	0.0	3881	MELANOMA	-	-	-	1	ALK	ENST00000389048,p.E314K|NM_004304,p.E314K|uc002rmy.3,p.E314K	protein_coding, processed_transcript	uc002rmy.3	nonsynonymous SNV	exon3	c.G940A	p.E314K	DLLDGPGAERSKEMPRGSFLLLNTS	DLLDGPGAERSKKMPRGSFLLLNTS	3.0	5.0	unscreened	-	3881_2:29917728-29917728 C>T_DLLDGPGAERSKKMPRGSFLLLNTS
4:169927926-169927926 C>T	1.0	3881	MELANOMA	-	-	-	-	CBR4	ENST00000306193,p.G127E|NM_032783,p.G127E|uc003irz.2,p.G127E|uc003iry.3,p.G127E|ENST00000504480,p.G127E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003irz.2	nonsynonymous SNV	exon3	c.G380A	p.G127E	CKAAMRTMIQQQGGSIVNVGSIVGL	CKAAMRTMIQQQEGSIVNVGSIVGL	8.0	8.0	-	-	3881_4:169927926-169927926 C>T_CKAAMRTMIQQQEGSIVNVGSIVGL
6:47754361-47754361 G>A	0.0	3881	MELANOMA	-	-	-	-	OPN5	ENST00000489301,p.G81R|NM_181744,p.G81R|uc003ozc.3,p.G81R|ENST00000393699,p.G81R|ENST00000371211,p.G81R	protein_coding, processed_transcript	uc003ozc.3	nonsynonymous SNV	exon2	c.G241A	p.G81R	EIMTINLAVCDLGISVVGKPFTIIS	EIMTINLAVCDLRISVVGKPFTIIS	1.0	1.0	unscreened	-	3881_6:47754361-47754361 G>A_EIMTINLAVCDLRISVVGKPFTIIS
2:167159671-167159671 C>T	1.0	3881	MELANOMA	-	-	ID=COSM109202;OCCURENCE=1(breast),1(skin),1(endometrium)	-	SCN9A	uc002udt.1,p.R148Q|uc002udr.1,p.R148Q|NM_002977,p.R277Q|uc010fpl.3,p.R277Q|ENST00000452182,p.R142Q|ENST00000409672,p.R277Q|ENST00000409435,p.R277Q|ENST00000303354,p.R278Q|ENST00000375387,p.R278Q|ENST00000454569,p.R142Q|uc002uds.1,p.R148Q	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon7	c.G830A	p.R277Q	QLFMGNLKHKCFRNSLENNETLESI	QLFMGNLKHKCFQNSLENNETLESI	6.0	3.0	unscreened	-	3881_2:167159671-167159671 C>T_QLFMGNLKHKCFQNSLENNETLESI
9:15177808-15177808 A>-	0.0	3881	MELANOMA	-	-	-	-	TTC39B	NM_001168341,p.F507fs|uc011lmr.2,p.F507fs|NM_001168339,p.F574fs|NM_152574,p.F576fs|ENST00000512701,p.F576fs|ENST00000507285,p.F411fs|uc003zlr.2,p.F576fs|uc011lmq.2,p.F563fs|NM_001168342,p.F411fs|ENST00000297615,p.F507fs|ENST00000355694,p.F510fs|uc010mie.2,p.F574fs|ENST00000380850,p.F563fs|uc011lmp.2,p.F411fs|uc003zlp.2,p.F93fs|NM_001168340,p.F563fs|uc003zlq.2,p.F479fs|ENST00000507993,p.F411fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lmr.2	frameshift deletion	exon16	c.1521delT	p.F507fs	VEKAEAALQSQNFNSFSVDDECLVK	VEKAEAALQSQNLTASLWMMSA	4.0	10.0	unscreened	-	3881_9:15177808-15177808 A>-_VEKAEAALQSQNLTASLWMMSA
8:20005164-20005164 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC18A1	uc003wzm.3,p.G427E|NM_001142324,p.G395E|uc011kyr.2,p.G427E|NM_001135691,p.G427E|ENST00000519026,p.G395E|ENST00000437980,p.G427E|ENST00000440926,p.G427E|ENST00000265808,p.G395E|uc011kyq.2,p.G427E|NM_001142325,p.G427E|uc003wzn.3,p.G395E|ENST00000381608,p.G427E|ENST00000276373,p.G427E|NM_003053,p.G427E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kyr.2	nonsynonymous SNV	exon15	c.G1280A	p.G427E	GHLVDLRHTSVYGSVYAIADVAFCM	GHLVDLRHTSVYESVYAIADVAFCM	1.0	1.0	unscreened	-	3881_8:20005164-20005164 C>T_GHLVDLRHTSVYESVYAIADVAFCM
9:113192632-113192632 C>T	0.0	3881	MELANOMA	-	-	-	-	SVEP1	uc010mtz.3,p.G1818R|ENST00000401783,p.G1818R|NM_153366,p.G1818R|ENST00000374469,p.G1795R	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon33	c.G5452A	p.G1818R	TVGAEVTFSCQEGYQLMGVTKITCL	TVGAEVTFSCQERYQLMGVTKITCL	2.0	10.0	unscreened	-	3881_9:113192632-113192632 C>T_TVGAEVTFSCQERYQLMGVTKITCL
3:112648130-112648130 G>A	0.0	3881	MELANOMA	-	-	-	-	CD200R1	ENST00000440122,p.R143C|uc003dzj.1,p.R143C|uc003dzl.1,p.R143C|NM_138806,p.R143C|ENST00000490004,p.R120C|NM_170780,p.R120C|ENST00000308611,p.R143C|uc003dzm.1,p.R120C|NM_138940,p.R120C|uc003dzk.1,p.R120C|uc011bhx.1,p.R98C|NM_138939,p.R143C|ENST00000471858,p.R120C|ENST00000295863,p.R98C	protein_coding	uc011bhx.1	nonsynonymous SNV	exon2	c.C292T	p.R98C	VSRPDQNSDLQIRTVAITHDGYYRC	VSRPDQNSDLQICTVAITHDGYYRC	4.0	1.0	unscreened	-	3881_3:112648130-112648130 G>A_VSRPDQNSDLQICTVAITHDGYYRC
1:190068109-190068109 G>A	0.0	3881	MELANOMA	-	-	ID=COSM424858;OCCURENCE=1(breast)	-	BRINP3	ENST00000534846,p.S345F|NM_199051,p.S447F|ENST00000367462,p.S447F|uc010pot.1,p.S345F|uc001gse.1,p.S447F	protein_coding, processed_transcript	uc010pot.1	nonsynonymous SNV	exon7	c.C1034T	p.S345F	CTAFLPCTVGDASACLTCAPDNRTR	CTAFLPCTVGDAFACLTCAPDNRTR	1.0	10.0	unscreened	-	3881_1:190068109-190068109 G>A_CTAFLPCTVGDAFACLTCAPDNRTR
2:207170344-207170344 G>A	1.0	3881	MELANOMA	-	-	-	-	ZDBF2	ENST00000374423,p.M364I|uc002vbp.2,p.M364I|uc031rqy.1,p.M362I|NM_001285549,p.M362I|NM_020923,p.M364I	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.G1086A	p.M362I	AFWEQKCSVSSEMKFDCISLQSASD	AFWEQKCSVSSEIKFDCISLQSASD	6.0	2.0	unscreened	-	3881_2:207170344-207170344 G>A_AFWEQKCSVSSEIKFDCISLQSASD
X:3235528-3235528 A>T	0.0	3881	MELANOMA	-	-	-	-	MXRA5	NM_015419,p.I2065N|ENST00000217939,p.I2065N|uc004crg.4,p.I2065N	protein_coding	uc004crg.4	nonsynonymous SNV	exon6	c.T6194A	p.I2065N	KLENISLPPGLSIHIHCTAKAAPLP	KLENISLPPGLSNHIHCTAKAAPLP	7.0	10.0	unscreened	-	3881_X:3235528-3235528 A>T_KLENISLPPGLSNHIHCTAKAAPLP
16:31439112-31439112 C>T	0.0	3881	MELANOMA	-	-	-	-	COX6A2	uc002ebx.2,p.G93S|NM_005205,p.G93S|ENST00000287490,p.G93S	retained_intron, protein_coding	uc002ebx.2	nonsynonymous SNV	exon3	c.G277A	p.G93S	LFHNSHVNPLPTGYEHP	LFHNSHVNPLPTSYEHP	1.0	4.0	unscreened	-	3881_16:31439112-31439112 C>T_LFHNSHVNPLPTSYEHP
4:9784596-9784596 C>T	0.0	3881	MELANOMA	-	-	-	-	DRD5	ENST00000304374,p.L315F|uc003gmb.4,p.L315F|NM_000798,p.L315F	protein_coding	uc003gmb.4	nonsynonymous SNV	exon1	c.C943T	p.L315F	GVFVCCWLPFFILNCMVPFCSGHPE	GVFVCCWLPFFIFNCMVPFCSGHPE	1.0	10.0	unscreened	-	3881_4:9784596-9784596 C>T_GVFVCCWLPFFIFNCMVPFCSGHPE
11:111229617-111229617 G>A	0.0	3881	MELANOMA	-	-	-	1	POU2AF1	ENST00000531398,p.P17S	protein_coding, processed_transcript	ENST00000531398	nonsynonymous SNV	exon3	c.C49T	p.P17S	IRDATAPEQAPAPARPYQGVRVKEP	IRDATAPEQAPASARPYQGVRVKEP	5.0	9.0	unscreened	-	3881_11:111229617-111229617 G>A_IRDATAPEQAPASARPYQGVRVKEP
2:160673345-160673345 G>A	0.0	3881	MELANOMA	-	-	-	-	LY75,LY75-CD302	ENST00000553424,p.P1451L|ENST00000504764,p.P1451L|ENST00000263636,p.P1451L|NM_001198760,p.P1451L|uc002ubc.4,p.P1451L|NM_002349,p.P1451L|ENST00000554112,p.P1451L|ENST00000505052,p.P1451L|uc002ubb.4,p.P1451L|uc010fos.3,p.P1451L|NM_001198759,p.P1451L	retained_intron, protein_coding, processed_transcript	uc010fos.3	nonsynonymous SNV	exon30	c.C4352T	p.P1451L	LFLEDIVKRDGFPLWVGLSSHDGSE	LFLEDIVKRDGFLLWVGLSSHDGSE	5.0	3.0	unscreened	-	3881_2:160673345-160673345 G>A_LFLEDIVKRDGFLLWVGLSSHDGSE
X:31089887-31089887 C>T	0.0	3881	MELANOMA	-	-	-	-	FTHL17	NM_031894,p.D62N|ENST00000359202,p.D62N|uc004dcl.1,p.D62N	protein_coding	uc004dcl.1	nonsynonymous SNV	exon1	c.G184A	p.D62N	ENFFRYFLRLSDDKMEHAQKLMRLQ	ENFFRYFLRLSDNKMEHAQKLMRLQ	1.0	10.0	unscreened	-	3881_X:31089887-31089887 C>T_ENFFRYFLRLSDNKMEHAQKLMRLQ
1:167666540-167666540 G>A	0.0	3881	MELANOMA	-	-	-	-	RCSD1	ENST00000367854,p.G227R|NM_052862,p.G227R|ENST00000537350,p.G197R|uc001gem.3,p.G227R|uc010pli.2,p.G197R	protein_coding, processed_transcript	uc010pli.2	nonsynonymous SNV	exon5	c.G589A	p.G197R	GSPLSSEGAAGEGVRTLGPAEKPPL	GSPLSSEGAAGERVRTLGPAEKPPL	7.0	9.0	unscreened	-	3881_1:167666540-167666540 G>A_GSPLSSEGAAGERVRTLGPAEKPPL
X:107816832-107816832 C>T	0.0	3881	MELANOMA	-	-	-	-	COL4A5	uc004enz.2,p.S165L|NM_000495,p.S165L|ENST00000361603,p.S165L|uc022ccg.2,p.S165L|ENST00000328300,p.S165L	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon9	c.C494T	p.S165L	GMKGEPGSIIMSSLPGPKGNPGYPG	GMKGEPGSIIMSLLPGPKGNPGYPG	8.0	7.0	unscreened	-	3881_X:107816832-107816832 C>T_GMKGEPGSIIMSLLPGPKGNPGYPG
1:237780706-237780706 G>A	0.0	3881	MELANOMA	-	-	-	-	RYR2	NM_001035,p.E1946K|ENST00000542537,p.E1930K|ENST00000366574,p.E1946K|uc001hyl.1,p.E1946K|ENST00000360064,p.E1944K	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon38	c.G5836A	p.E1946K	AKLQDNQRFRYNEVMQALNMSAALT	AKLQDNQRFRYNKVMQALNMSAALT	3.0	1.0	unscreened	-	3881_1:237780706-237780706 G>A_AKLQDNQRFRYNKVMQALNMSAALT
9:139265370-139265370 C>T	0.0	3881	MELANOMA	-	-	-	-	CARD9	ENST00000371734,p.D184N|NM_052813,p.D184N|ENST00000315908,p.D184N|NM_052814,p.D184N|uc022bpp.1,p.D184N|ENST00000489932,p.D184N|ENST00000371732,p.D184N|uc022bpo.1,p.D184N|uc004chg.3,p.D184N|uc011mdx.1,p.D80N|uc010nbj.2,p.D184N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022bpp.1	nonsynonymous SNV	exon4	c.G550A	p.D184N	SRELKRCKEENYDLAMRLAHQSEEK	SRELKRCKEENYNLAMRLAHQSEEK	4.0	10.0	unscreened	-	3881_9:139265370-139265370 C>T_SRELKRCKEENYNLAMRLAHQSEEK
13:38320480-38320480 T>A	0.0	3881	MELANOMA	-	-	-	-	TRPC4	ENST00000355779,p.K164I|uc001uwt.3,p.K164I|ENST00000488717,p.K164I|uc010tey.2,p.K164I|NM_001135957,p.K164I|NM_001135956,p.K164I|uc001uws.3,p.K164I|uc010abx.3,p.K164I|ENST00000358477,p.K164I|NM_016179,p.K164I|ENST00000379673,p.K164I|NM_001135955,p.K164I|ENST00000379705,p.K164I|uc010aby.3,p.K164I|ENST00000379681,p.K164I|ENST00000426868,p.K164I|ENST00000447043,p.K164I|NM_003306,p.K164I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tey.2	nonsynonymous SNV	exon3	c.A491T	p.K164I	TNNYEIIKLLVQKGVSVPRPHEVRC	TNNYEIIKLLVQIGVSVPRPHEVRC	1.0	7.0	unscreened	-	3881_13:38320480-38320480 T>A_TNNYEIIKLLVQIGVSVPRPHEVRC
11:62406865-62406865 G>A	1.0	3881	MELANOMA	-	-	-	-	GANAB	ENST00000529737,p.P72S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000529737	nonsynonymous SNV	exon3	c.C214T	p.P72S	EPCWTLYSLVLIPSRSI	EPCWTLYSLVLISSRSI	10.0	2.0	unscreened	-	3881_11:62406865-62406865 G>A_EPCWTLYSLVLISSRSI
6:36269980-36269980 C>T	0.0	3881	MELANOMA	-	-	-	-	PNPLA1	ENST00000388715,p.S278L|uc010jwe.1,p.S287L|NM_001145716,p.S287L|ENST00000312917,p.S287L|uc003olw.1,p.S278L|NM_173676,p.S278L|ENST00000394571,p.S373L|uc010jwf.2,p.S373L|NM_001145717,p.S373L|ENST00000457797,p.S374L	protein_coding	uc010jwf.2	nonsynonymous SNV	exon6	c.C1118T	p.S373L	STPLSLSGMPPVSFPAVHKPPSSTP	STPLSLSGMPPVLFPAVHKPPSSTP	1.0	1.0	unscreened	-	3881_6:36269980-36269980 C>T_STPLSLSGMPPVLFPAVHKPPSSTP
1:16535453-16535453 A>T	0.0	3881	MELANOMA	-	-	-	-	ARHGEF19	ENST00000421561,p.S33T|ENST00000270747,p.S33T|NM_153213,p.S33T|uc001ayc.1,p.S33T	protein_coding, processed_transcript	uc001ayc.1	nonsynonymous SNV	exon2	c.T97A	p.S33T	HHPVAVCQQESLSFAELPALKPPSP	HHPVAVCQQESLTFAELPALKPPSP	4.0	10.0	unscreened	-	3881_1:16535453-16535453 A>T_HHPVAVCQQESLTFAELPALKPPSP
6:88140844-88140844 G>A	0.0	3881	MELANOMA	-	-	-	-	C6orf165	NM_001031743,p.G418E|ENST00000507897,p.G418E|uc003plv.3,p.G418E|ENST00000369562,p.G418E|uc003plu.2,p.G418E|uc003plw.3,p.G230E	 protein_coding, processed_transcript, nonsense_mediated_decay,retained_intron	uc003plw.3	nonsynonymous SNV	exon10	c.G689A	p.G230E	TANFDKLLIQYRGFCAYTFAATDGL	TANFDKLLIQYREFCAYTFAATDGL	3.0	10.0	unscreened	-	3881_6:88140844-88140844 G>A_TANFDKLLIQYREFCAYTFAATDGL
11:18955761-18955761 G>A	0.0	3881	MELANOMA	-	-	-	-	MRGPRX1	uc001mpg.3,p.L191F|NM_147199,p.L191F|ENST00000302797,p.L191F	protein_coding, processed_transcript	uc001mpg.3	nonsynonymous SNV	exon1	c.C571T	p.L191F	ITVAWLIFLCVVLCGSSLVLLIRIL	ITVAWLIFLCVVFCGSSLVLLIRIL	1.0	1.0	unscreened	-	3881_11:18955761-18955761 G>A_ITVAWLIFLCVVFCGSSLVLLIRIL
11:55111458-55111458 C>T	0.0	3881	MELANOMA	-	-	-	-	OR4A16	ENST00000314721,p.S261F|NM_001005274,p.S261F|uc010rie.2,p.S261F	protein_coding	uc010rie.2	nonsynonymous SNV	exon1	c.C782T	p.S261F	FVPCIFMYVRPVSNFPFDKLMTVFY	FVPCIFMYVRPVFNFPFDKLMTVFY	1.0	1.0	unscreened	-	3881_11:55111458-55111458 C>T_FVPCIFMYVRPVFNFPFDKLMTVFY
10:89544322-89544322 G>A	1.0	3881	MELANOMA	-	-	-	-	ATAD1	uc001key.1,p.T163I|ENST00000541004,p.T163I|uc010qmr.1,p.T105I|NM_032810,p.T163I|ENST00000328142,p.T163I|ENST00000308448,p.T163I|ENST00000400215,p.T105I|uc001kez.1,p.T163I	protein_coding, processed_transcript	uc010qmr.1	nonsynonymous SNV	exon3	c.C314T	p.T105I	GCRFINLQPSTLTDKWYGESQKLAA	GCRFINLQPSTLIDKWYGESQKLAA	9.0	10.0	-	-	3881_10:89544322-89544322 G>A_GCRFINLQPSTLIDKWYGESQKLAA
3:111899442-111899442 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC9C1	ENST00000487372,p.G858E|uc003dyu.3,p.G906E|uc011bhu.2,p.G169E|ENST00000305815,p.G906E|uc010hqc.3,p.G858E|NM_183061,p.G906E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bhu.2	nonsynonymous SNV	exon15	c.G506A	p.G169E	GNDIFEEGDEPKGIYIIISGMVKLE	GNDIFEEGDEPKEIYIIISGMVKLE	4.0	1.0	unscreened	-	3881_3:111899442-111899442 C>T_GNDIFEEGDEPKEIYIIISGMVKLE
1:248616313-248616313 C>T	0.0	3881	MELANOMA	-	-	-	-	OR2T2	uc001iek.1,p.T72I|NM_001004136,p.T72I|ENST00000342927,p.T72I	protein_coding	uc001iek.1	nonsynonymous SNV	exon1	c.C215T	p.T72I	MYFLLSQLSIMDTIYICITVPKMLQ	MYFLLSQLSIMDIIYICITVPKMLQ	1.0	2.0	unscreened	-	3881_1:248616313-248616313 C>T_MYFLLSQLSIMDIIYICITVPKMLQ
12:56620168-56620168 C>T	1.0	3881	MELANOMA	-	-	-	-	NABP2	ENST00000380198,p.S134F|uc001ski.3,p.S134F|ENST00000267023,p.S134F|NM_024068,p.S134F|uc001skk.3,p.S159F|ENST00000399713,p.S134F|ENST00000341463,p.S134F	retained_intron, protein_coding, processed_transcript	uc001skk.3	nonsynonymous SNV	exon5	c.C476T	p.S159F	NKAVQNDSNPSASQPTTGPSAASPA	NKAVQNDSNPSAFQPTTGPSAASPA	8.0	4.0	unscreened	-	3881_12:56620168-56620168 C>T_NKAVQNDSNPSAFQPTTGPSAASPA
16:7726807-7726807 C>T	0.0	3881	MELANOMA	-	-	ID=COSM295568,COSM295569;OCCURENCE=1(large_intestine)	-	RBFOX1	uc010uyb.1,p.P321L|uc010uxz.1,p.P364L|uc002cyt.2,p.P294L|NM_001142333,p.P294L|ENST00000550418,p.P321L|ENST00000422070,p.P364L|ENST00000553186,p.P294L|ENST00000547338,p.P321L|ENST00000340209,p.P326L|NM_018723,p.P321L|NM_001142334,p.P321L|uc002cys.2,p.P321L	retained_intron, protein_coding, processed_transcript	uc010uyb.1	nonsynonymous SNV	exon12	c.C962T	p.P321L	IYGGYAAYRYAQPTPATAAAYSDSY	IYGGYAAYRYAQLTPATAAAYSDSY	1.0	8.0	unscreened	-	3881_16:7726807-7726807 C>T_IYGGYAAYRYAQLTPATAAAYSDSY
16:7726807-7726807 C>T	0.0	3881	MELANOMA	-	-	ID=COSM295568,COSM295569;OCCURENCE=1(large_intestine)	-	RBFOX1	ENST00000436368,p.P342L|uc002cyy.2,p.P342L|NM_145891,p.P342L|uc010uyc.1,p.P315L|ENST00000311745,p.P342L|NM_145892,p.P342L|uc002cyx.2,p.P342L	retained_intron, protein_coding, processed_transcript	uc010uyc.1	nonsynonymous SNV	exon10	c.C944T	p.P315L	LQGGYAAYRYAQPTPATAAAYSDSY	LQGGYAAYRYAQLTPATAAAYSDSY	1.0	8.0	unscreened	-	3881_16:7726807-7726807 C>T_LQGGYAAYRYAQLTPATAAAYSDSY
16:7726807-7726807 C>T	0.0	3881	MELANOMA	-	-	ID=COSM295568,COSM295569;OCCURENCE=1(large_intestine)	-	RBFOX1	ENST00000547372,p.P364L|uc010uya.1,p.P278L|ENST00000535565,p.P278L|ENST00000552089,p.P338L	retained_intron, protein_coding, processed_transcript	uc010uya.1	nonsynonymous SNV	exon11	c.C833T	p.P278L	IYGGYAAYRYAQPTPATAAAYSDRN	IYGGYAAYRYAQLTPATAAAYSDRN	1.0	8.0	unscreened	-	3881_16:7726807-7726807 C>T_IYGGYAAYRYAQLTPATAAAYSDRN
16:7726807-7726807 C>T	0.0	3881	MELANOMA	-	-	ID=COSM295568,COSM295569;OCCURENCE=1(large_intestine)	-	RBFOX1	NM_145893,p.P342L|ENST00000355637,p.P342L|uc002cyw.2,p.P342L	retained_intron, protein_coding, processed_transcript	uc002cyw.2	nonsynonymous SNV	exon11	c.C1025T	p.P342L	LQGGYAAYRYAQPTPATAAAYSDRN	LQGGYAAYRYAQLTPATAAAYSDRN	1.0	8.0	unscreened	-	3881_16:7726807-7726807 C>T_LQGGYAAYRYAQLTPATAAAYSDRN
1:228509325-228509325 G>A	0.0	3881	MELANOMA	-	-	-	-	OBSCN	ENST00000284548,p.R4928Q|uc009xez.2,p.R4928Q|uc001hsn.4,p.R4928Q|ENST00000422127,p.R4928Q|ENST00000366709,p.R2047Q|ENST00000366707,p.R2562Q|NM_001271223,p.R5885Q|NM_001098623,p.R4928Q|uc001hsq.2,p.R5885Q|NM_052843,p.R4928Q|ENST00000570156,p.R5885Q	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon55	c.G14783A	p.R4928Q	RLECVVASKADVRARWLKDGVELTD	RLECVVASKADVQARWLKDGVELTD	6.0	1.0	unscreened	-	3881_1:228509325-228509325 G>A_RLECVVASKADVQARWLKDGVELTD
2:1891308-1891308 G>A	0.0	3881	MELANOMA	-	-	-	-	MYT1L	uc002qxe.3,p.P865L|NM_015025,p.P863L|ENST00000428368,p.P863L|uc002qxd.3,p.P863L|ENST00000399161,p.P865L	retained_intron, protein_coding, processed_transcript	uc002qxe.3	nonsynonymous SNV	exon17	c.C2594T	p.P865L	ERRYPGEVTIPSPKPKYPQCKESKK	ERRYPGEVTIPSLKPKYPQCKESKK	3.0	4.0	unscreened	-	3881_2:1891308-1891308 G>A_ERRYPGEVTIPSLKPKYPQCKESKK
6:161519350-161519350 C>T	0.0	3881	MELANOMA	-	-	-	-	MAP3K4	NM_005922,p.P1189S|NM_001301072,p.P1185S|ENST00000392142,p.P1189S|ENST00000544041,p.P1189S|ENST00000366920,p.P1185S|uc003qtn.3,p.P1189S|uc010kkc.2,p.P1164S|NM_001291958,p.P642S|uc011ega.2,p.P642S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ega.2	nonsynonymous SNV	exon18	c.C1924T	p.P642S	RSMPSDARSHGSPAAAAAAAAAAVA	RSMPSDARSHGSSAAAAAAAAAAVA	7.0	10.0	unscreened	-	3881_6:161519350-161519350 C>T_RSMPSDARSHGSSAAAAAAAAAAVA
8:71553193-71553193 G>A	1.0	3881	MELANOMA	-	-	-	-	LACTB2	ENST00000276590,p.R229C|uc003xyp.3,p.R229C|NM_016027,p.R229C|ENST00000522447,p.R229C	retained_intron, protein_coding, processed_transcript	uc003xyp.3	nonsynonymous SNV	exon5	c.C685T	p.R229C	RNIREQQILTLFRENFEKSFTVMEL	RNIREQQILTLFCENFEKSFTVMEL	9.0	2.0	unscreened	-	3881_8:71553193-71553193 G>A_RNIREQQILTLFCENFEKSFTVMEL
16:84230515-84230515 C>T	0.0	3881	MELANOMA	-	-	-	-	ADAD2	NM_001145400,p.L563F|ENST00000315906,p.L563F|NM_139174,p.L645F|uc002fhq.2,p.L645F|ENST00000268624,p.L645F|uc002fhr.2,p.L563F	retained_intron, protein_coding, processed_transcript	uc002fhr.2	nonsynonymous SNV	exon10	c.C1687T	p.L563F	GPYQEARRQLSLLLDQQGLGAWPSK	GPYQEARRQLSLFLDQQGLGAWPSK	1.0	1.0	unscreened	-	3881_16:84230515-84230515 C>T_GPYQEARRQLSLFLDQQGLGAWPSK
7:103292187-103292187 G>A	0.0	3881	MELANOMA	-	-	-	-	RELN	uc022ajr.1,p.H605Y|ENST00000424685,p.H605Y|ENST00000343529,p.H605Y|NM_005045,p.H605Y|uc022ajq.1,p.H605Y|NM_173054,p.H605Y|uc010liz.3,p.H605Y|ENST00000428762,p.H605Y	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon15	c.C1813T	p.H605Y	FSTNHGRSWSLLHTECLPEICAGPH	FSTNHGRSWSLLYTECLPEICAGPH	2.0	6.0	unscreened	-	3881_7:103292187-103292187 G>A_FSTNHGRSWSLLYTECLPEICAGPH
7:87175289-87175289 G>A	0.0	3881	MELANOMA	0.0009	-	ID=COSM3641919;OCCURENCE=1(large_intestine)	-	ABCB1	NM_000927,p.R593C|uc011khc.2,p.R529C|uc003uiz.2,p.R593C|ENST00000543898,p.R529C|ENST00000265724,p.R593C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011khc.2	nonsynonymous SNV	exon13	c.C1585T	p.R529C	TTIVIAHRLSTVRNADVIAGFDDGV	TTIVIAHRLSTVCNADVIAGFDDGV	5.0	6.0	unscreened	-	3881_7:87175289-87175289 G>A_TTIVIAHRLSTVCNADVIAGFDDGV
12:100612218-100612218 G>A	1.0	3881	MELANOMA	-	-	-	-	ACTR6	ENST00000552376,p.G259E|uc001the.2,p.G177E|NM_022496,p.G259E|ENST00000551617,p.G177E|ENST00000546902,p.G177E|uc001thc.2,p.G151E|ENST00000188312,p.G259E|uc001thb.2,p.G259E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001the.2	nonsynonymous SNV	exon9	c.G530A	p.G177E	GFCKPREEMVLSGKYKSGEQILRLA	GFCKPREEMVLSEKYKSGEQILRLA	8.0	9.0	-	-	3881_12:100612218-100612218 G>A_GFCKPREEMVLSEKYKSGEQILRLA
9:113173732-113173732 G>A	0.0	3881	MELANOMA	-	-	-	-	SVEP1	NM_153366,p.P2087S|uc010mtz.3,p.P2087S|ENST00000297826,p.P13S|ENST00000401783,p.P2087S|uc010mty.3,p.P13S|ENST00000374469,p.P2064S	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon37	c.C6259T	p.P2087S	MPRCIAHFCEKPPSVSYSILESVSK	MPRCIAHFCEKPSSVSYSILESVSK	2.0	10.0	unscreened	-	3881_9:113173732-113173732 G>A_MPRCIAHFCEKPSSVSYSILESVSK
3:102171921-102171921 C>T	0.0	3881	MELANOMA	-	-	-	-	ZPLD1	NM_175056,p.P105S|uc011bhg.1,p.P89S|uc003dvs.1,p.P89S|ENST00000466937,p.P89S|ENST00000306176,p.P105S|ENST00000491959,p.P89S|uc003dvt.1,p.P105S	protein_coding, processed_transcript	uc011bhg.1	nonsynonymous SNV	exon4	c.C265T	p.P89S	SHCRGFINNNTFPAVVIFIINLSTL	SHCRGFINNNTFSAVVIFIINLSTL	1.0	9.0	unscreened	-	3881_3:102171921-102171921 C>T_SHCRGFINNNTFSAVVIFIINLSTL
X:50377022-50377022 C>T	1.0	3881	MELANOMA	-	-	-	-	SHROOM4	uc004dpf.1,p.R568Q|ENST00000376020,p.R684Q|ENST00000289292,p.R684Q|ENST00000460112,p.R568Q|uc004dpe.2,p.R684Q|NM_020717,p.R684Q	protein_coding, processed_transcript	uc004dpf.1	nonsynonymous SNV	exon3	c.G1703A	p.R568Q	PESHESRTGLEGRISPGQRPGQSSL	PESHESRTGLEGQISPGQRPGQSSL	6.0	10.0	-	-	3881_X:50377022-50377022 C>T_PESHESRTGLEGQISPGQRPGQSSL
6:153077346-153077346 G>T	0.0	3881	MELANOMA	-	-	-	-	VIP	ENST00000367243,p.R137I|uc010kjd.4,p.R137I|uc003qpe.4,p.R138I|NM_003381,p.R138I|NM_194435,p.R137I|ENST00000367244,p.R138I|uc003qpf.4,p.R137I	protein_coding	uc010kjd.4	nonsynonymous SNV	exon5	c.G410T	p.R137I	SDAVFTDNYTRLRKQMAVKKYLNSI	SDAVFTDNYTRLIKQMAVKKYLNSI	1.0	10.0	unscreened	-	3881_6:153077346-153077346 G>T_SDAVFTDNYTRLIKQMAVKKYLNSI
8:105025795-105025795 C>T	0.0	3881	MELANOMA	-	-	-	-	RIMS2	NM_001100117,p.S1057L|uc003ylq.3,p.S871L|NM_014677,p.S871L|ENST00000408894,p.S871L|NM_001282881,p.S896L|uc003ylr.3,p.S896L|uc003ylw.2,p.S871L|ENST00000262231,p.S896L|ENST00000504942,p.S1057L|ENST00000406091,p.S1057L|ENST00000507740,p.S871L|uc003ylp.3,p.S1057L	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon16	c.C2612T	p.S871L	RSTERPDTNLMRSMPSLMTGRSAPP	RSTERPDTNLMRLMPSLMTGRSAPP	3.0	3.0	unscreened	-	3881_8:105025795-105025795 C>T_RSTERPDTNLMRLMPSLMTGRSAPP
11:18636892-18636892 T>A	1.0	3881	MELANOMA	-	-	-	-	SPTY2D1	NM_194285,p.N310I|uc010rdi.1,p.N310I|ENST00000336349,p.N310I|uc001moy.3,p.N310I	retained_intron, protein_coding, processed_transcript	uc010rdi.1	nonsynonymous SNV	exon3	c.A929T	p.N310I	PSLREGHDKPVFNGAGKPHSSTSSP	PSLREGHDKPVFIGAGKPHSSTSSP	9.0	5.0	unscreened	-	3881_11:18636892-18636892 T>A_PSLREGHDKPVFIGAGKPHSSTSSP
2:233244284-233244284 G>A	0.0	3881	MELANOMA	-	-	-	-	ALPP	NM_001632,p.G124E|uc002vsq.3,p.G124E|ENST00000392027,p.G124E	retained_intron, protein_coding	uc002vsq.3	nonsynonymous SNV	exon4	c.G371A	p.G124E	PDSGATATAYLCGVKGNFQTIGLSA	PDSGATATAYLCEVKGNFQTIGLSA	1.0	3.0	unscreened	-	3881_2:233244284-233244284 G>A_PDSGATATAYLCEVKGNFQTIGLSA
10:98133443-98133443 G>A	0.0	3881	MELANOMA	-	-	-	-	TLL2	NM_012465,p.P858S|uc001kml.2,p.P858S|ENST00000357947,p.P858S	protein_coding, processed_transcript	uc001kml.2	nonsynonymous SNV	exon19	c.C2572T	p.P858S	ILGRFCGSKKPDPTVASGSSMFLRF	ILGRFCGSKKPDSTVASGSSMFLRF	1.0	1.0	unscreened	-	3881_10:98133443-98133443 G>A_ILGRFCGSKKPDSTVASGSSMFLRF
1:45288197-45288197 G>A	0.0	3881	MELANOMA	-	-	-	-	PTCH2	uc010olg.2,p.P866S|ENST00000372192,p.P1168S|uc010olf.2,p.P1168S|NM_003738,p.P1168S	protein_coding	uc010olg.2	nonsynonymous SNV	exon21	c.C2596T	p.P866S	VTTSMTVAIHPPPLPGAYIHPAPDE	VTTSMTVAIHPPSLPGAYIHPAPDE	3.0	8.0	unscreened	-	3881_1:45288197-45288197 G>A_VTTSMTVAIHPPSLPGAYIHPAPDE
17:62891152-62891152 C>T	0.0	3881	MELANOMA	-	-	-	-	LRRC37A3	uc031rdu.1,p.E742K|ENST00000584306,p.E742K|uc031rdy.1,p.E742K|ENST00000319651,p.E742K|uc031rdz.1,p.E742K|uc031rdx.1,p.E742K|uc010dek.2,p.E742K|uc031rdv.1,p.E742K|uc002jey.2,p.E742K|uc031rea.1,p.E742K|uc031rdr.1,p.E742K|uc031rds.1,p.E742K|uc031rdp.1,p.E742K|uc031rdq.1,p.E742K|uc031reb.1,p.E742K|uc031rec.1,p.E742K|uc031rdt.1,p.E742K|uc031red.1,p.E742K|NM_199340,p.E742K|uc031rdw.1,p.E742K	protein_coding, processed_transcript	uc031red.1	nonsynonymous SNV	exon1	c.G2224A	p.E742K	KPTTEVKPSPTTEETSTQLPDLGLA	KPTTEVKPSPTTKETSTQLPDLGLA	5.0	6.0	unscreened	-	3881_17:62891152-62891152 C>T_KPTTEVKPSPTTKETSTQLPDLGLA
20:34596372-34596372 C>T	0.0	3881	MELANOMA	-	-	-	-	CNBD2	uc002xes.1,p.P375L|NM_080834,p.P375L|ENST00000349339,p.P375L|uc002xer.1,p.P375L|NM_001207076,p.P375L|ENST00000538900,p.P375L|ENST00000373973,p.P375L	retained_intron, protein_coding, processed_transcript	uc002xes.1	nonsynonymous SNV	exon9	c.C1124T	p.P375L	FSRKIRTSGDTLPKMLGPKIQSRPA	FSRKIRTSGDTLLKMLGPKIQSRPA	1.0	4.0	unscreened	-	3881_20:34596372-34596372 C>T_FSRKIRTSGDTLLKMLGPKIQSRPA
16:66972047-66972047 C>T	1.0	3881	MELANOMA	-	-	-	-	CES2	NM_003869,p.P126S|ENST00000317091,p.P126S|uc002eqr.3,p.P126S|NM_198061,p.P126S|ENST00000417689,p.P126S|uc002eqq.3,p.P126S	retained_intron, protein_coding, nonsense_mediated_decay	uc002eqr.3	nonsynonymous SNV	exon2	c.C376T	p.P126S	GANAGVQTFLGIPFAKPPLGPLRFA	GANAGVQTFLGISFAKPPLGPLRFA	8.0	8.0	unscreened	-	3881_16:66972047-66972047 C>T_GANAGVQTFLGISFAKPPLGPLRFA
5:140237497-140237497 C>T	0.0	3881	MELANOMA	-	-	-	-	PCDHA10	uc011dad.2,p.R622C|ENST00000307360,p.R622C|uc003lhx.2,p.R622C|NM_031859,p.R622C|NM_018901,p.R622C	protein_coding	uc011dad.2	nonsynonymous SNV	exon1	c.C1864T	p.R622C	LQSAAVGARIPFRVGLYTGEISTTR	LQSAAVGARIPFCVGLYTGEISTTR	4.0	8.0	unscreened	-	3881_5:140237497-140237497 C>T_LQSAAVGARIPFCVGLYTGEISTTR
6:31584265-31584265 G>A	0.0	3881	MELANOMA	-	-	-	-	AIF1	ENST00000376049,p.R60K|ENST00000337917,p.R128K|uc003nva.3,p.R60K|uc003nuy.3,p.R114K|ENST00000376059,p.R114K|uc031snn.1,p.R60K|NM_032955,p.R60K|NM_001623,p.R114K	retained_intron, protein_coding	uc031snn.1	nonsynonymous SNV	exon5	c.G179A	p.R60K	SYPDFLRMMLGKRSAILKMILMYEE	SYPDFLRMMLGKKSAILKMILMYEE	8.0	1.0	unscreened	-	3881_6:31584265-31584265 G>A_SYPDFLRMMLGKKSAILKMILMYEE
11:63065192-63065192 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC22A10	ENST00000533483,p.L223F|uc009yor.3,p.L275F|ENST00000332793,p.L275F|ENST00000544661,p.L120F|ENST00000535888,p.L65F|NM_001039752,p.L275F	protein_coding, processed_transcript, nonsense_mediated_decay	uc009yor.3	nonsynonymous SNV	exon4	c.C823T	p.L275F	VVASVPFFVFFLLSRWLVESARWLI	VVASVPFFVFFLFSRWLVESARWLI	1.0	8.0	unscreened	-	3881_11:63065192-63065192 C>T_VVASVPFFVFFLFSRWLVESARWLI
9:101599410-101599410 C>T	0.0	3881	MELANOMA	-	-	-	-	GALNT12	NM_024642,p.R398C|ENST00000375011,p.R398C|uc004ayz.3,p.R398C	protein_coding, processed_transcript	uc004ayz.3	nonsynonymous SNV	exon6	c.C1192T	p.R398C	VWMDEFKELYYHRNPRARLEPFGDV	VWMDEFKELYYHCNPRARLEPFGDV	3.0	10.0	unscreened	-	3881_9:101599410-101599410 C>T_VWMDEFKELYYHCNPRARLEPFGDV
1:179414330-179414330 G>A	0.0	3881	MELANOMA	-	-	-	-	AXDND1	uc001gmo.3,p.G597R|NM_144696,p.G597R|uc021pfj.1,p.G555R|ENST00000367618,p.G597R|ENST00000434088,p.G531R	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pfj.1	nonsynonymous SNV	exon14	c.G1663A	p.G555R	QKLYKEYEIRINGDNGYSKILPSLI	QKLYKEYEIRINRDNGYSKILPSLI	3.0	1.0	unscreened	-	3881_1:179414330-179414330 G>A_QKLYKEYEIRINRDNGYSKILPSLI
19:6678278-6678278 C>T	0.0	3881	MELANOMA	-	-	-	-	C3	NM_000064,p.G1579R|ENST00000245907,p.G1579R|uc002mfm.3,p.G1579R	retained_intron, protein_coding, processed_transcript	uc002mfm.3	nonsynonymous SNV	exon40	c.G4735A	p.G1579R	QTIKSGSDEVQVGQQRTFISPIKCR	QTIKSGSDEVQVRQQRTFISPIKCR	10.0	5.0	unscreened	-	3881_19:6678278-6678278 C>T_QTIKSGSDEVQVRQQRTFISPIKCR
12:53817752-53817752 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1705702;OCCURENCE=1(skin)	-	AMHR2	uc021qyg.1,p.P12S|uc009zmy.2,p.P12S|NM_001164691,p.P12S|NM_020547,p.P12S|ENST00000550311,p.P12S|ENST00000257863,p.P12S|ENST00000379791,p.P12S|NM_001164690,p.P12S|uc001scx.2,p.P12S	retained_intron, protein_coding	uc021qyg.1	nonsynonymous SNV	exon1	c.C34T	p.P12S	MLGSLGLWALLPTAVEAPPNRRTC	MLGSLGLWALLSTAVEAPPNRRTC	1.0	6.0	unscreened	-	3881_12:53817752-53817752 C>T_MLGSLGLWALLSTAVEAPPNRRTC
16:57295942-57295942 G>A	0.0	3881	MELANOMA	-	-	-	-	PLLP	uc002elg.2,p.P59L|NM_015993,p.P59L|ENST00000219207,p.P59L	protein_coding	uc002elg.2	nonsynonymous SNV	exon2	c.C176T	p.P59L	LGLLVWALIADTPYHLYPAYGWVMF	LGLLVWALIADTLYHLYPAYGWVMF	1.0	6.0	unscreened	-	3881_16:57295942-57295942 G>A_LGLLVWALIADTLYHLYPAYGWVMF
12:101555842-101555842 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC5A8	ENST00000536262,p.D514N|NM_145913,p.D514N|uc001thz.4,p.D514N	protein_coding	uc001thz.4	nonsynonymous SNV	exon13	c.G1540A	p.D514N	FQIYNVQRTPLMDNWYSLSYLYFST	FQIYNVQRTPLMNNWYSLSYLYFST	1.0	8.0	unscreened	-	3881_12:101555842-101555842 C>T_FQIYNVQRTPLMNNWYSLSYLYFST
11:57971036-57971036 C>T	0.0	3881	MELANOMA	-	-	-	-	OR1S2	NM_001004459,p.M206I|ENST00000302592,p.M206I|uc010rkb.2,p.M206I	protein_coding	uc010rkb.2	nonsynonymous SNV	exon1	c.G618A	p.M206I	LAPLLKLSCSDTMINELVLFIVGLS	LAPLLKLSCSDTIINELVLFIVGLS	1.0	1.0	unscreened	-	3881_11:57971036-57971036 C>T_LAPLLKLSCSDTIINELVLFIVGLS
1:43906966-43906966 C>T	1.0	3881	MELANOMA	-	-	-	-	SZT2	ENST00000562955,p.R2419W|ENST00000372442,p.R1577W|NM_015284,p.R2419W|uc001cjk.3,p.R2419W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001cjk.3	nonsynonymous SNV	exon52	c.C7255T	p.R2419W	DIVLDRPEDTRGRRRHKTESVRTPG	DIVLDRPEDTRGWRRHKTESVRTPG	8.0	7.0	unscreened	-	3881_1:43906966-43906966 C>T_DIVLDRPEDTRGWRRHKTESVRTPG
1:158549407-158549407 G>A	0.0	3881	MELANOMA	-	-	-	-	OR10X1	ENST00000368150,p.P95S|uc010pin.2,p.P95S|NM_001004477,p.P95S	protein_coding	uc010pin.2	nonsynonymous SNV	exon1	c.C283T	p.P95S	SFSETCYTLTIVPKMLEDLLAKDRS	SFSETCYTLTIVSKMLEDLLAKDRS	1.0	3.0	unscreened	-	3881_1:158549407-158549407 G>A_SFSETCYTLTIVSKMLEDLLAKDRS
19:33695657-33695657 C>T	0.0	3881	MELANOMA	-	-	-	-	LRP3	ENST00000253193,p.P125L|NM_002333,p.P125L|uc010edh.3,p.P125L	retained_intron, protein_coding	uc010edh.3	nonsynonymous SNV	exon4	c.C374T	p.P125L	RQEAFRLCGSAIPPAFISARDHVWI	RQEAFRLCGSAILPAFISARDHVWI	4.0	8.0	unscreened	-	3881_19:33695657-33695657 C>T_RQEAFRLCGSAILPAFISARDHVWI
17:3831315-3831315 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1721526;OCCURENCE=2(NS)	-	ATP2A3	NM_174954,p.S1029L|ENST00000570845,p.S138L|uc002fwz.2,p.S1029L	retained_intron, protein_coding	uc002fwz.2	nonsynonymous SNV	exon22	c.C3086T	p.S1029L	WTPDHTGARDTASSRCQSCSEREEA	WTPDHTGARDTALSRCQSCSEREEA	6.0	5.0	unscreened	-	3881_17:3831315-3831315 G>A_WTPDHTGARDTALSRCQSCSEREEA
16:51172897-51172897 T>C	0.0	3881	MELANOMA	-	-	-	-	SALL1	ENST00000440970,p.N982S|NM_001127892,p.N982S|NM_002968,p.N1079S|uc021tie.1,p.N1079S|ENST00000251020,p.N1079S|uc021tid.1,p.N982S|uc021tif.1,p.N982S|ENST00000570206,p.N982S	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon2	c.A2945G	p.N982S	LGPNQNSAVIPANSLSSLIKTEVNG	LGPNQNSAVIPASSLSSLIKTEVNG	1.0	3.0	unscreened	-	3881_16:51172897-51172897 T>C_LGPNQNSAVIPASSLSSLIKTEVNG
5:16091079-16091079 G>A	0.0	3881	MELANOMA	-	-	-	-	MARCH11	uc003jfo.2,p.P269S|uc010itw.1,p.P25S|ENST00000332432,p.P269S|NM_001102562,p.P269S	protein_coding, processed_transcript	uc010itw.1	nonsynonymous SNV	exon1	c.C73T	p.P25S	ASVTWLLWSAFSPYAVWQRKDILFQ	ASVTWLLWSAFSSYAVWQRKDILFQ	1.0	2.0	unscreened	-	3881_5:16091079-16091079 G>A_ASVTWLLWSAFSSYAVWQRKDILFQ
1:228547870-228547870 A>T	0.0	3881	MELANOMA	-	-	-	-	OBSCN	ENST00000284548,p.E6426V|ENST00000366709,p.E3545V|uc001hsn.4,p.E6426V|NM_052843,p.E6426V|uc009xfa.3,p.E88V	retained_intron, protein_coding, processed_transcript	uc009xfa.3	nonsynonymous SNV	exon3	c.A263T	p.E88V	GMGSLEEEGTMEEAGEEEGEDGDAF	GMGSLEEEGTMEVAGEEEGEDGDAF	6.0	4.0	unscreened	-	3881_1:228547870-228547870 A>T_GMGSLEEEGTMEVAGEEEGEDGDAF
1:172501615-172501615 G>A	0.0	3881	MELANOMA	-	-	-	-	SUCO	ENST00000367723,p.M1I|NM_016227,p.M1I	protein_coding, processed_transcript	NM_016227	nonsynonymous SNV	exon1	c.G3A	p.M1I	MRGFLARPFLSTN	IRGFLARPFLSTN	8.0	3.0	unscreened	-	3881_1:172501615-172501615 G>A_IRGFLARPFLSTN
4:96199421-96199421 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1310396;OCCURENCE=1(urinary_tract)	-	UNC5C	ENST00000506749,p.P195S|ENST00000504962,p.P195S|ENST00000453304,p.P195S|uc003hto.3,p.P195S|uc010ilc.2,p.P195S|uc003htq.3,p.P195S|NM_003728,p.P195S|ENST00000513796,p.P195S	protein_coding	uc010ilc.2	nonsynonymous SNV	exon4	c.C583T	p.P195S	EVLLQCRPPEGIPVAEVEWLKNEDI	EVLLQCRPPEGISVAEVEWLKNEDI	2.0	3.0	unscreened	-	3881_4:96199421-96199421 G>A_EVLLQCRPPEGISVAEVEWLKNEDI
1:181725202-181725202 C>T	0.0	3881	MELANOMA	-	-	-	-	CACNA1E	NM_001205293,p.T1367I|ENST00000360108,p.T1348I|uc009wxt.3,p.T1367I|ENST00000367570,p.T1367I|ENST00000358338,p.T1299I|ENST00000526775,p.T1348I|NM_001205294,p.T1348I|uc009wxs.3,p.T1348I|ENST00000367573,p.T1367I|ENST00000367567,p.T974I|NM_000721,p.T1367I|uc001gow.3,p.T1367I|uc001gox.1,p.T593I|ENST00000357570,p.T1318I	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon29	c.C4100T	p.T1367I	YDNIIWALLTLFTVSTGEGWPQVLQ	YDNIIWALLTLFIVSTGEGWPQVLQ	2.0	10.0	unscreened	-	3881_1:181725202-181725202 C>T_YDNIIWALLTLFIVSTGEGWPQVLQ
19:11728471-11728471 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF627	NM_001290084,p.H275Y|ENST00000361113,p.H385Y|NM_001290083,p.H353Y|NM_001290085,p.H275Y|uc002msk.2,p.H385Y|NM_145295,p.H385Y	protein_coding, processed_transcript	uc002msk.2	nonsynonymous SNV	exon4	c.C1153T	p.H385Y	SCSSSFRKHERIHTGEKPYKCTKCG	SCSSSFRKHERIYTGEKPYKCTKCG	7.0	3.0	unscreened	-	3881_19:11728471-11728471 C>T_SCSSSFRKHERIYTGEKPYKCTKCG
8:100831774-100831774 A>C	1.0	3881	MELANOMA	-	-	-	-	VPS13B	ENST00000357162,p.Q2919P|ENST00000358544,p.Q2944P|NM_017890,p.Q2944P|uc003yiw.4,p.Q2919P|NM_152564,p.Q2919P|uc003yiv.4,p.Q2944P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yiw.4	nonsynonymous SNV	exon48	c.A8756C	p.Q2919P	ILDEFYGPEKSLQPIWPYNKKDSDR	ILDEFYGPEKSLPPIWPYNKKDSDR	7.0	9.0	-	-	3881_8:100831774-100831774 A>C_ILDEFYGPEKSLPPIWPYNKKDSDR
19:33378687-33378687 G>A	1.0	3881	MELANOMA	-	-	-	2	CEP89	ENST00000305768,p.R646C|uc002ntx.3,p.R399C|uc002nty.3,p.R646C|NM_032816,p.R646C	retained_intron, protein_coding, nonsense_mediated_decay	uc002nty.3	nonsynonymous SNV	exon17	c.C1936T	p.R646C	DGVLNKVIKSNIRLGKLEEKVKGYK	DGVLNKVIKSNICLGKLEEKVKGYK	8.0	8.0	unscreened	-	3881_19:33378687-33378687 G>A_DGVLNKVIKSNICLGKLEEKVKGYK
6:38863970-38863970 C>T	0.0	3881	MELANOMA	0.0014	-	-	-	DNAH8	uc003ooe.2,p.S2753F|ENST00000359357,p.S2753F|ENST00000327475,p.S2958F|ENST00000449981,p.S2970F|uc021yzh.1,p.S2970F|NM_001206927,p.S2970F|ENST00000441566,p.S2717F	protein_coding	uc021yzh.1	nonsynonymous SNV	exon60	c.C8909T	p.S2970F	EMPEPTGDEPEDSVFEVPKIYELMP	EMPEPTGDEPEDFVFEVPKIYELMP	1.0	6.0	unscreened	-	3881_6:38863970-38863970 C>T_EMPEPTGDEPEDFVFEVPKIYELMP
12:125834477-125834477 G>T	0.0	3881	MELANOMA	-	-	-	-	TMEM132B	uc021rgl.1,p.G68W|ENST00000299308,p.G178W|NM_052907,p.G178W|uc001uhe.1,p.G178W	retained_intron, protein_coding, processed_transcript	uc021rgl.1	nonsynonymous SNV	exon1	c.G202T	p.G68W	EAREVAASCRLQGAPGLCVAELELL	EAREVAASCRLQWAPGLCVAELELL	2.0	8.0	unscreened	-	3881_12:125834477-125834477 G>T_EAREVAASCRLQWAPGLCVAELELL
1:248844801-248844801 C>T	0.0	3881	MELANOMA	-	-	-	-	OR14I1	ENST00000342623,p.D269N|uc001ieu.1,p.D269N|NM_001004734,p.D269N	protein_coding	uc001ieu.1	nonsynonymous SNV	exon1	c.G805A	p.D269N	ALGPIAKALSIQDLVIALTYTVLPP	ALGPIAKALSIQNLVIALTYTVLPP	1.0	1.0	unscreened	-	3881_1:248844801-248844801 C>T_ALGPIAKALSIQNLVIALTYTVLPP
9:138439814-138439814 G>A	0.0	3881	MELANOMA	-	-	-	-	OBP2A	NM_001293189,p.M125I|uc004cgc.3,p.M125I|ENST00000340780,p.M125I	protein_coding, nonsense_mediated_decay	uc004cgc.3	nonsynonymous SNV	exon4	c.G375A	p.M125I	YCKDQRRGGLRYMGKLVASAPCRAV	YCKDQRRGGLRYIGKLVASAPCRAV	1.0	10.0	unscreened	-	3881_9:138439814-138439814 G>A_YCKDQRRGGLRYIGKLVASAPCRAV
19:45262846-45262846 C>T	1.0	3881	MELANOMA	-	-	-	1	BCL3	NM_005178,p.P447S|ENST00000164227,p.P447S|uc010xxe.2,p.P447S	retained_intron, protein_coding, processed_transcript	uc010xxe.2	nonsynonymous SNV	exon9	c.C1339T	p.P447S	AGVLRGPGRPVPPSPAPGGS	AGVLRGPGRPVPSSPAPGGS	7.0	8.0	unscreened	-	3881_19:45262846-45262846 C>T_AGVLRGPGRPVPSSPAPGGS
11:118209903-118209903 C>G	0.0	3881	MELANOMA	-	-	-	-	CD3D	ENST00000529594,p.G91R|ENST00000300692,p.G164R|NM_000732,p.G164R|NM_001040651,p.G120R|uc001pst.1,p.G120R|uc021qrf.1,p.G91R|ENST00000392884,p.G120R|uc001pss.1,p.G164R	retained_intron, protein_coding	uc021qrf.1	nonsynonymous SNV	exon4	c.G271C	p.G91R	LRDRDDAQYSHLGGNWARNK	LRDRDDAQYSHLRGNWARNK	8.0	5.0	unscreened	-	3881_11:118209903-118209903 C>G_LRDRDDAQYSHLRGNWARNK
4:101337085-101337085 G>A	0.0	3881	MELANOMA	-	-	-	-	EMCN	uc003hvr.3,p.L241F|NM_016242,p.L241F|NM_001159694,p.L228F|ENST00000296420,p.L241F|ENST00000511970,p.L228F|ENST00000305864,p.L158F|uc011cel.2,p.L228F|uc011cem.2,p.L158F	protein_coding, processed_transcript	uc011cem.2	nonsynonymous SNV	exon7	c.C472T	p.L158F	DQPQSDKESVKLLTVKTISHESGEH	DQPQSDKESVKLFTVKTISHESGEH	6.0	10.0	unscreened	-	3881_4:101337085-101337085 G>A_DQPQSDKESVKLFTVKTISHESGEH
12:4639153-4639153 G>A	1.0	3881	MELANOMA	-	-	-	-	C12orf4	ENST00000261250,p.H130Y|uc001qms.3,p.H130Y|ENST00000542080,p.H83Y|ENST00000545746,p.H130Y|uc001qmt.3,p.H130Y|NM_020374,p.H130Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qmt.3	nonsynonymous SNV	exon4	c.C388T	p.H130Y	EPSWDEDFADVYHDLIHSPASETLL	EPSWDEDFADVYYDLIHSPASETLL	8.0	5.0	unscreened	-	3881_12:4639153-4639153 G>A_EPSWDEDFADVYYDLIHSPASETLL
8:24359060-24359060 C>T	0.0	3881	MELANOMA	-	-	-	-	ADAM7	uc003xec.3,p.P499S|ENST00000520720,p.P499S	protein_coding	uc003xec.3	nonsynonymous SNV	exon14	c.C1495T	p.P499S	GYFGDEQQIRTEPILPEIHFLNHLL	GYFGDEQQIRTESILPEIHFLNHLL	1.0	8.0	unscreened	-	3881_8:24359060-24359060 C>T_GYFGDEQQIRTESILPEIHFLNHLL
17:67178343-67178343 A>G	0.0	3881	MELANOMA	-	-	-	-	ABCA10	uc010dfb.1,p.I508T|NM_080282,p.I907T|ENST00000269081,p.I907T|uc010dfa.1,p.I907T|ENST00000523419,p.I907T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dfb.1	nonsynonymous SNV	exon15	c.T1523C	p.I508T	VLMGIVSNALMGIFNFTELIQMEST	VLMGIVSNALMGTFNFTELIQMEST	4.0	3.0	unscreened	-	3881_17:67178343-67178343 A>G_VLMGIVSNALMGTFNFTELIQMEST
11:17548838-17548838 G>A	0.0	3881	MELANOMA	-	-	-	-	USH1C	NM_153676,p.S143F|uc009yhb.3,p.S143F|ENST00000005226,p.S143F|NM_005709,p.S143F|ENST00000526181,p.S154F|NM_001297764,p.S143F|uc001mne.3,p.S143F|ENST00000527020,p.S143F|uc001mnf.3,p.S143F|uc001mnd.3,p.S107F|ENST00000318024,p.S143F|ENST00000526313,p.S143F|ENST00000527720,p.S112F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc009yhb.3	nonsynonymous SNV	exon5	c.C428T	p.S143F	GDEIVRINGYSISSCTHEEVINLIR	GDEIVRINGYSIFSCTHEEVINLIR	1.0	7.0	unscreened	-	3881_11:17548838-17548838 G>A_GDEIVRINGYSIFSCTHEEVINLIR
7:124404511-124404511 G>A	1.0	3881	MELANOMA	-	-	ID=COSM269267;OCCURENCE=1(large_intestine)	-	GPR37	ENST00000303921,p.P174S|uc003vli.4,p.P174S|NM_005302,p.P174S	protein_coding	uc003vli.4	nonsynonymous SNV	exon1	c.C520T	p.P174S	SGRSQEQSVKTVPGASDLFYWPRRA	SGRSQEQSVKTVSGASDLFYWPRRA	5.0	3.0	unscreened	-	3881_7:124404511-124404511 G>A_SGRSQEQSVKTVSGASDLFYWPRRA
11:11398870-11398870 G>A	1.0	3881	MELANOMA	-	-	-	-	GALNT18	NM_198516,p.S279F|uc001mjo.2,p.S279F|ENST00000227756,p.S279F	protein_coding, processed_transcript	uc001mjo.2	nonsynonymous SNV	exon5	c.C836T	p.S279F	RIKENRKRIISPSFDNIKYDNFEIE	RIKENRKRIISPFFDNIKYDNFEIE	4.0	4.0	unscreened	-	3881_11:11398870-11398870 G>A_RIKENRKRIISPFFDNIKYDNFEIE
X:34961700-34961700 C>T	0.0	3881	MELANOMA	-	-	-	-	FAM47B	uc004ddi.2,p.P251L|ENST00000329357,p.P251L|NM_152631,p.P251L	protein_coding	uc004ddi.2	nonsynonymous SNV	exon1	c.C752T	p.P251L	PPETRASHLRVDPPETGVSHLCPEP	PPETRASHLRVDLPETGVSHLCPEP	1.0	10.0	unscreened	-	3881_X:34961700-34961700 C>T_PPETRASHLRVDLPETGVSHLCPEP
7:100685944-100685944 G>A	0.0	3881	MELANOMA	-	-	-	-	MUC17	NM_001040105,p.M3749I|uc003uxp.1,p.M3749I|ENST00000379439,p.M3749I|ENST00000306151,p.M3749I	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G11247A	p.M3749I	TLDSTTMSVSMPMEISTLGTTILVS	TLDSTTMSVSMPIEISTLGTTILVS	1.0	6.0	unscreened	-	3881_7:100685944-100685944 G>A_TLDSTTMSVSMPIEISTLGTTILVS
3:4744617-4744617 G>C	1.0	3881	MELANOMA	-	-	-	-	ITPR1	ENST00000423119,p.R1538P|ENST00000302640,p.R1532P|uc021wsj.1,p.R1523P|NM_001099952,p.R1538P|ENST00000443694,p.R1532P|ENST00000357086,p.R1538P|ENST00000456211,p.R1523P|NM_001168272,p.R1532P|uc003bqc.3,p.R1532P|NM_002222,p.R1523P|ENST00000354582,p.R1547P|uc021wsi.1,p.R1538P	retained_intron, protein_coding, processed_transcript	uc021wsj.1	nonsynonymous SNV	exon35	c.G4568C	p.R1523P	MPSQKASVESCIRVLSDVAKSRAIA	MPSQKASVESCIPVLSDVAKSRAIA	7.0	7.0	unscreened	-	3881_3:4744617-4744617 G>C_MPSQKASVESCIPVLSDVAKSRAIA
21:40777884-40777884 C>T	1.0	3881	MELANOMA	-	-	-	-	LCA5L	ENST00000415847,p.P35S	retained_intron, protein_coding, processed_transcript	ENST00000415847	nonsynonymous SNV	exon2	c.C103T	p.P35S	GLIEFTTVTLESPKAWLVEA	GLIEFTTVTLESSKAWLVEA	8.0	7.0	unscreened	-	3881_21:40777884-40777884 C>T_GLIEFTTVTLESSKAWLVEA
20:55208625-55208625 G>A	1.0	3881	MELANOMA	-	-	-	-	TFAP2C	ENST00000544508,p.R99K|uc010zzi.2,p.R99K|ENST00000201031,p.R268K|NM_003222,p.R268K|uc002xya.3,p.R268K	protein_coding	uc010zzi.2	nonsynonymous SNV	exon4	c.G296A	p.R99K	CLNASLLGGVLRRAKSKNGGRSLRE	CLNASLLGGVLRKAKSKNGGRSLRE	3.0	2.0	unscreened	-	3881_20:55208625-55208625 G>A_CLNASLLGGVLRKAKSKNGGRSLRE
11:60105355-60105355 C>T	0.0	3881	MELANOMA	-	-	-	-	MS4A6E	ENST00000300182,p.L97F|uc001npd.3,p.L97F|ENST00000532756,p.L72F|NM_139249,p.L97F	protein_coding, nonsense_mediated_decay	uc001npd.3	nonsynonymous SNV	exon2	c.C289T	p.L97F	CKLDEKDIPTRLLLSYDYHSPYTMD	CKLDEKDIPTRLFLSYDYHSPYTMD	1.0	5.0	unscreened	-	3881_11:60105355-60105355 C>T_CKLDEKDIPTRLFLSYDYHSPYTMD
11:33566439-33566439 C>T	1.0	3881	MELANOMA	-	-	-	-	KIAA1549L	ENST00000321505,p.A670V|ENST00000265654,p.A676V|ENST00000389726,p.A676V|NM_012194,p.A670V|uc021qfs.1,p.A670V|uc001mun.1,p.A676V	protein_coding	uc021qfs.1	nonsynonymous SNV	exon2	c.C2009T	p.A670V	ALVAKGTSSSPLAVASGPAKSSSMT	ALVAKGTSSSPLVVASGPAKSSSMT	7.0	4.0	unscreened	-	3881_11:33566439-33566439 C>T_ALVAKGTSSSPLVVASGPAKSSSMT
12:10010224-10010224 C>T	1.0	3881	MELANOMA	-	-	-	-	CLEC2B	NM_005127,p.R29Q|uc001qwn.3,p.R29Q|ENST00000228438,p.R29Q	retained_intron, protein_coding	uc001qwn.3	nonsynonymous SNV	exon3	c.G86A	p.R29Q	TTNIITLIVKLTRDSQSLCPYDWIG	TTNIITLIVKLTQDSQSLCPYDWIG	7.0	6.0	unscreened	-	3881_12:10010224-10010224 C>T_TTNIITLIVKLTQDSQSLCPYDWIG
4:49063860-49063860 G>A	0.0	3881	MELANOMA	-	-	-	-	CWH43	ENST00000513409,p.E658K|ENST00000226432,p.E685K|NM_001286791,p.E658K|uc011bzl.2,p.E658K|uc003gyv.3,p.E685K|NM_025087,p.E685K	retained_intron, protein_coding, nonsense_mediated_decay	uc011bzl.2	nonsynonymous SNV	exon16	c.G1972A	p.E658K	PRFGSYKEGHNYENNHHFHMNTPKY	PRFGSYKEGHNYKNNHHFHMNTPKY	1.0	10.0	unscreened	-	3881_4:49063860-49063860 G>A_PRFGSYKEGHNYKNNHHFHMNTPKY
9:138439814-138439814 G>A	0.0	3881	MELANOMA	-	-	-	-	OBP2A	ENST00000471886,p.M125I	protein_coding, nonsense_mediated_decay	ENST00000471886	nonsynonymous SNV	exon4	c.G375A	p.M125I	YCKDQRRGGLRYMGKLVGPCRCPHL	YCKDQRRGGLRYIGKLVGPCRCPHL	1.0	10.0	unscreened	-	3881_9:138439814-138439814 G>A_YCKDQRRGGLRYIGKLVGPCRCPHL
4:169927926-169927926 C>T	1.0	3881	MELANOMA	-	-	-	-	CBR4	ENST00000504561,p.G124E	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000504561	nonsynonymous SNV	exon3	c.G371A	p.G124E	CKAAMRTMIQQQGGSIVNVGHRREM	CKAAMRTMIQQQEGSIVNVGHRREM	8.0	8.0	-	-	3881_4:169927926-169927926 C>T_CKAAMRTMIQQQEGSIVNVGHRREM
11:72404420-72404420 G>A	0.0	3881	MELANOMA	-	-	-	-	ARAP1	uc001oss.3,p.R1057C|ENST00000455638,p.R1302C|uc001osv.3,p.R1302C|ENST00000393605,p.R1062C|ENST00000542596,p.R106C|NM_001040118,p.R1302C|NM_015242,p.R1057C|ENST00000334211,p.R1057C|ENST00000359373,p.R1302C|uc001osu.3,p.R1302C|uc010rre.2,p.R1057C|NM_001135190,p.R996C|uc001osr.3,p.R1062C|ENST00000426523,p.R1057C|uc009yth.3,p.R996C|ENST00000393609,p.R1302C|ENST00000429686,p.R996C	retained_intron, protein_coding, processed_transcript	uc010rre.2	nonsynonymous SNV	exon27	c.C3169T	p.R1057C	LGLGLPSGGFHDRYFILNSSCLRLY	LGLGLPSGGFHDCYFILNSSCLRLY	8.0	5.0	unscreened	-	3881_11:72404420-72404420 G>A_LGLGLPSGGFHDCYFILNSSCLRLY
2:179598221-179598221 C>T	0.0	3881	MELANOMA	-	-	-	-	TTN	uc031rqc.1,p.A5267T|uc002umz.1,p.A684T|uc031rqd.1,p.A4950T|NM_001256850,p.A4950T|ENST00000591111,p.A4950T|NM_133378,p.A4023T|NM_001267550,p.A5267T|ENST00000342992,p.A4023T|uc021vsy.2,p.A4023T|ENST00000589042,p.A5267T	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon52	c.G14848A	p.A4950T	LIVKEPAKIIERAELIQVTAGDPAT	LIVKEPAKIIERTELIQVTAGDPAT	2.0	8.0	unscreened	-	3881_2:179598221-179598221 C>T_LIVKEPAKIIERTELIQVTAGDPAT
2:196723519-196723519 C>T	0.0	3881	MELANOMA	-	-	-	-	DNAH7	ENST00000312428,p.M2582I|NM_018897,p.M2582I|uc002utj.4,p.M2582I	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon43	c.G7746A	p.M2582I	FKLLLEKKRSEVMKMKKRYEVGLEK	FKLLLEKKRSEVIKMKKRYEVGLEK	4.0	8.0	unscreened	-	3881_2:196723519-196723519 C>T_FKLLLEKKRSEVIKMKKRYEVGLEK
1:6211148-6211148 G>A	0.0	3881	MELANOMA	-	-	-	-	CHD5	uc001amb.2,p.S313F|NM_015557,p.S313F|ENST00000496404,p.S313F|ENST00000262450,p.S313F	protein_coding, nonsense_mediated_decay	uc001amb.2	nonsynonymous SNV	exon7	c.C938T	p.S313F	FDSASIHSASVRSECSAALGKKSKR	FDSASIHSASVRFECSAALGKKSKR	2.0	8.0	unscreened	-	3881_1:6211148-6211148 G>A_FDSASIHSASVRFECSAALGKKSKR
1:158687628-158687628 G>A	0.0	3881	MELANOMA	-	-	-	-	OR6K3	uc021pbn.1,p.S93L|ENST00000368145,p.S93L|NM_001005327,p.S93L|ENST00000368146,p.S109L	protein_coding	uc021pbn.1	nonsynonymous SNV	exon1	c.C278T	p.S93L	MLSNLISEKKAISMTGCILQMYFFH	MLSNLISEKKAILMTGCILQMYFFH	1.0	1.0	unscreened	-	3881_1:158687628-158687628 G>A_MLSNLISEKKAILMTGCILQMYFFH
7:57528531-57528531 G>A	1.0	3881	MELANOMA	-	-	-	-	ZNF716	ENST00000420713,p.D122N|uc011kdi.1,p.D122N|NM_001159279,p.D122N	protein_coding	uc011kdi.1	nonsynonymous SNV	exon4	c.G364A	p.D122N	VILRRYGKCGQEDLQVKKCCKSVGE	VILRRYGKCGQENLQVKKCCKSVGE	4.0	9.0	-	-	3881_7:57528531-57528531 G>A_VILRRYGKCGQENLQVKKCCKSVGE
X:152959591-152959591 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC6A8	NM_001142805,p.G411S|NM_005629,p.G421S|uc011myx.1,p.G306S|NM_001142806,p.G306S|uc004fib.3,p.G421S|uc004fic.3,p.G411S	-	uc011myx.1	nonsynonymous SNV	exon9	c.G916A	p.G306S	MLLLLGLDSQFVGVEGFITGLLDLL	MLLLLGLDSQFVSVEGFITGLLDLL	1.0	6.0	unscreened	-	3881_X:152959591-152959591 G>A_MLLLLGLDSQFVSVEGFITGLLDLL
1:115829412-115829412 G>A	0.0	3881	MELANOMA	-	-	-	-	NGF	uc001efu.1,p.S2F|uc021osd.1,p.S2F|ENST00000369512,p.S2F|NM_002506,p.S2F	protein_coding	uc021osd.1	nonsynonymous SNV	exon1	c.C5T	p.S2F	MSMLFYTLITAFLI	MFMLFYTLITAFLI	1.0	6.0	unscreened	-	3881_1:115829412-115829412 G>A_MFMLFYTLITAFLI
10:122280521-122280521 G>A	0.0	3881	MELANOMA	-	-	-	-	PPAPDC1A	ENST00000427079,p.G120E|ENST00000541332,p.G120E|ENST00000369073,p.G110E|uc010qtd.2,p.G120E|uc001lev.1,p.G120E|ENST00000398250,p.G120E|NM_001030059,p.G120E	protein_coding, processed_transcript	uc010qtd.2	nonsynonymous SNV	exon5	c.G359A	p.G120E	PRPDFFYRCFPDGVMNSEMHCTGDP	PRPDFFYRCFPDEVMNSEMHCTGDP	4.0	10.0	unscreened	-	3881_10:122280521-122280521 G>A_PRPDFFYRCFPDEVMNSEMHCTGDP
7:106826882-106826882 C>T	1.0	3881	MELANOMA	-	-	-	-	HBP1	ENST00000468410,p.S206F|uc003vdz.3,p.S206F|NM_001244262,p.S216F|NM_012257,p.S206F|uc003vdy.3,p.S206F|ENST00000485846,p.S206F|ENST00000222574,p.S206F|uc003veb.1,p.S206F|uc003vea.3,p.S206F|ENST00000498408,p.S198F|uc011klv.2,p.S216F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011klv.2	nonsynonymous SNV	exon5	c.C647T	p.S216F	SLSDDDDLGWCNSWPSTVWHCFLKG	SLSDDDDLGWCNFWPSTVWHCFLKG	10.0	5.0	unscreened	-	3881_7:106826882-106826882 C>T_SLSDDDDLGWCNFWPSTVWHCFLKG
7:23808627-23808627 C>T	0.0	3881	MELANOMA	-	-	-	-	STK31	NM_001260505,p.S477F|uc003swt.5,p.S454F|uc011jze.3,p.S477F|ENST00000354639,p.S454F|NM_031414,p.S477F|NM_001260504,p.S454F|ENST00000428484,p.S454F|uc003sws.5,p.S477F|uc031swr.1,p.S454F|NM_032944,p.S454F|uc010kuq.4,p.S454F|ENST00000355870,p.S477F|ENST00000433467,p.S477F	retained_intron, protein_coding, processed_transcript	uc031swr.1	nonsynonymous SNV	exon12	c.C1361T	p.S454F	NKRLKTLQDLSVSLEAVYGQAKEGA	NKRLKTLQDLSVFLEAVYGQAKEGA	1.0	4.0	unscreened	-	3881_7:23808627-23808627 C>T_NKRLKTLQDLSVFLEAVYGQAKEGA
11:58723246-58723246 T>A	0.0	3881	MELANOMA	-	-	-	-	GLYATL1	uc001nnh.2,p.S250T|NM_001220496,p.S219T|ENST00000317391,p.S219T|NM_080661,p.S250T|uc031qbb.1,p.S178T|uc001nnj.2,p.S219T|NM_001220494,p.S219T|uc001nni.2,p.S219T|uc001nnf.3,p.S219T|ENST00000300079,p.S250T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qbb.1	nonsynonymous SNV	exon4	c.T532A	p.S178T	AACMLGPEGVPVSWVTMDPSCEVGM	AACMLGPEGVPVTWVTMDPSCEVGM	1.0	1.0	unscreened	-	3881_11:58723246-58723246 T>A_AACMLGPEGVPVTWVTMDPSCEVGM
3:13860557-13860557 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1720994;OCCURENCE=2(NS)	-	WNT7A	uc003bye.1,p.G312S|ENST00000285018,p.G312S|NM_004625,p.G312S	protein_coding, processed_transcript	uc003bye.1	nonsynonymous SNV	exon4	c.G934A	p.G312S	QASGCDLMCCGRGYNTHQYARVWQC	QASGCDLMCCGRSYNTHQYARVWQC	1.0	10.0	unscreened	-	3881_3:13860557-13860557 C>T_QASGCDLMCCGRSYNTHQYARVWQC
19:36336309-36336309 G>A	0.0	3881	MELANOMA	-	-	-	-	NPHS1	NM_004646,p.R631C|ENST00000378910,p.R631C|uc002oby.3,p.R631C|ENST00000353632,p.R631C	retained_intron, protein_coding	uc002oby.3	nonsynonymous SNV	exon14	c.C1891T	p.R631C	QRVTCRAHSAELRETVSSFYRLNVL	QRVTCRAHSAELCETVSSFYRLNVL	2.0	4.0	unscreened	-	3881_19:36336309-36336309 G>A_QRVTCRAHSAELCETVSSFYRLNVL
19:7675986-7675986 C>T	0.0	3881	MELANOMA	-	-	-	-	CAMSAP3	NM_001080429,p.P379L|NM_020902,p.P352L|uc002mgu.4,p.P379L|uc002mgv.4,p.P352L|ENST00000160298,p.P352L|ENST00000446248,p.P379L	retained_intron, protein_coding	uc002mgv.4	nonsynonymous SNV	exon9	c.C1055T	p.P352L	ASPPQNNSGSSSPVFTFRHPLLSSG	ASPPQNNSGSSSLVFTFRHPLLSSG	2.0	8.0	unscreened	-	3881_19:7675986-7675986 C>T_ASPPQNNSGSSSLVFTFRHPLLSSG
15:77057781-77057781 G>A	1.0	3881	MELANOMA	-	-	-	-	SCAPER	uc002bcb.1,p.R510C|uc002bby.3,p.R504C|NM_020843,p.R504C|ENST00000565970,p.R510C|uc002bbx.3,p.R258C|uc002bcc.1,p.R504C|ENST00000538941,p.R258C|ENST00000324767,p.R504C|uc002bbz.1,p.R375C|uc002bca.1,p.R369C|NM_001145923,p.R258C|ENST00000564590,p.R510C|ENST00000563290,p.R504C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bcc.1	nonsynonymous SNV	exon13	c.C1510T	p.R504C	DVLADYEARESWRQNTSWGDIVEEE	DVLADYEARESWCQNTSWGDIVEEE	7.0	3.0	unscreened	-	3881_15:77057781-77057781 G>A_DVLADYEARESWCQNTSWGDIVEEE
8:24359060-24359060 C>T	0.0	3881	MELANOMA	-	-	-	-	ADAM7	ENST00000380789,p.P727S	protein_coding	ENST00000380789	nonsynonymous SNV	exon20	c.C2179T	p.P727S	GYFGDEQQIRTEPILPEIHFLNQRT	GYFGDEQQIRTESILPEIHFLNQRT	1.0	8.0	unscreened	-	3881_8:24359060-24359060 C>T_GYFGDEQQIRTESILPEIHFLNQRT
11:63137784-63137784 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC22A9	NM_080866,p.E86K|ENST00000536333,p.E86K|ENST00000310969,p.E86K|uc001nww.3,p.E86K|ENST00000279178,p.E86K	protein_coding, nonsense_mediated_decay	uc001nww.3	nonsynonymous SNV	exon1	c.G256A	p.E86K	RISIPLDSNMRPEKCRRFVHPQWQL	RISIPLDSNMRPKKCRRFVHPQWQL	1.0	4.0	unscreened	-	3881_11:63137784-63137784 G>A_RISIPLDSNMRPKKCRRFVHPQWQL
3:11356921-11356921 C>T	0.0	3881	MELANOMA	-	-	-	-	ATG7	NM_006395,p.S211F|ENST00000446450,p.S172F|NM_001136031,p.S211F|uc003bwd.3,p.S211F|ENST00000354956,p.S211F|NM_001144912,p.S172F|ENST00000434066,p.S61F|ENST00000354449,p.S211F|uc011aum.2,p.S172F|uc003bwc.3,p.S211F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aum.2	nonsynonymous SNV	exon6	c.C515T	p.S172F	FLIKYDENMVLVSLLKHYSDFFQGQ	FLIKYDENMVLVFLLKHYSDFFQGQ	7.0	4.0	unscreened	-	3881_3:11356921-11356921 C>T_FLIKYDENMVLVFLLKHYSDFFQGQ
5:151771964-151771964 G>A	0.0	3881	MELANOMA	-	-	-	-	NMUR2	uc003luv.2,p.H346Y|ENST00000255262,p.H346Y|NM_020167,p.H346Y	protein_coding, processed_transcript	uc003luv.2	nonsynonymous SNV	exon4	c.C1036T	p.H346Y	FQAAFQNVISSFHKQWHSQHDPQLP	FQAAFQNVISSFYKQWHSQHDPQLP	1.0	9.0	unscreened	-	3881_5:151771964-151771964 G>A_FQAAFQNVISSFYKQWHSQHDPQLP
19:21992001-21992001 G>A	1.0	3881	MELANOMA	-	-	ID=COSM993734;OCCURENCE=4(endometrium)	-	ZNF43	ENST00000594012,p.R274C|NM_001256650,p.R274C|uc010ecv.4,p.R274C|NM_003423,p.R280C|ENST00000595461,p.R274C|uc002nql.4,p.R274C|NM_001256649,p.R274C|uc002nqm.4,p.R274C|ENST00000354959,p.R280C|NM_001256651,p.R215C|uc031rkb.1,p.R215C|NM_001256648,p.R274C|NM_001256653,p.R289C|ENST00000598381,p.R274C|uc002nqj.4,p.R280C|uc002nqk.4,p.R215C|NM_001256654,p.R215C|uc031rka.1,p.R289C	retained_intron, protein_coding, processed_transcript	uc031rkb.1	nonsynonymous SNV	exon3	c.C643T	p.R215C	NKSSILTTHKIIRTGEKFYKCKECA	NKSSILTTHKIICTGEKFYKCKECA	8.0	7.0	unscreened	-	3881_19:21992001-21992001 G>A_NKSSILTTHKIICTGEKFYKCKECA
6:42196193-42196193 C>T	0.0	3881	MELANOMA	-	-	ID=COSM76807;OCCURENCE=1(ovary)	-	TRERF1	uc003osc.2,p.D921N|NM_001297574,p.D1185N|ENST00000354325,p.D1082N|uc003osb.2,p.D933N|ENST00000340840,p.D1094N|NM_033502,p.D1165N|uc011duq.1,p.D1082N|uc003ose.2,p.D1185N|ENST00000541110,p.D1185N|NM_001297573,p.D1185N|ENST00000372922,p.D1165N|uc003osd.2,p.D1165N|ENST00000372917,p.D1094N	protein_coding	uc011duq.1	nonsynonymous SNV	exon13	c.G3244A	p.D1082N	IKPIKDVDILDDDVVQQLGGVMEEA	IKPIKDVDILDDNVVQQLGGVMEEA	4.0	1.0	unscreened	-	3881_6:42196193-42196193 C>T_IKPIKDVDILDDNVVQQLGGVMEEA
6:7583893-7583893 G>A	0.0	3881	MELANOMA	-	-	-	-	DSP	ENST00000418664,p.G1534D|uc003mxq.1,p.G1534D|uc021yle.1,p.G1690D|uc003mxp.1,p.G2133D|NM_004415,p.G2133D|ENST00000379802,p.G2133D|NM_001008844,p.G1534D	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon24	c.G5069A	p.G1690D	GMRLLEAQIASGGVVDPVNSVFLPK	GMRLLEAQIASGDVVDPVNSVFLPK	3.0	8.0	unscreened	-	3881_6:7583893-7583893 G>A_GMRLLEAQIASGDVVDPVNSVFLPK
10:7774362-7774362 C>T	0.0	3881	MELANOMA	-	-	ID=COSM110589;OCCURENCE=1(skin)	-	ITIH2	ENST00000358415,p.S570L|NM_002216,p.S570L|uc001ijs.3,p.S570L|ENST00000379587,p.S559L	retained_intron, protein_coding, processed_transcript	uc001ijs.3	nonsynonymous SNV	exon14	c.C1709T	p.S570L	TLAQMDDLQDFLSKDKHADPDFTRK	TLAQMDDLQDFLLKDKHADPDFTRK	1.0	10.0	unscreened	-	3881_10:7774362-7774362 C>T_TLAQMDDLQDFLLKDKHADPDFTRK
19:9061788-9061788 G>A	0.0	3881	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.P8553L|uc002mkp.3,p.P8553L|NM_024690,p.P8553L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C25658T	p.P8553L	SRTPGDVPWPSLPSVEEASSVSSSL	SRTPGDVPWPSLLSVEEASSVSSSL	1.0	2.0	unscreened	-	3881_19:9061788-9061788 G>A_SRTPGDVPWPSLLSVEEASSVSSSL
19:9047669-9047669 G>A	0.0	3881	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.S11321L|uc002mkp.3,p.S11321L|NM_024690,p.S11321L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon5	c.C33962T	p.S11321L	TTISPGIPGVLTSLVTSSGRDISAT	TTISPGIPGVLTLLVTSSGRDISAT	1.0	5.0	unscreened	-	3881_19:9047669-9047669 G>A_TTISPGIPGVLTLLVTSSGRDISAT
10:118314728-118314728 G>A	0.0	3881	MELANOMA	-	-	-	-	PNLIP	ENST00000369221,p.E204K|uc001lcm.3,p.E204K|NM_000936,p.E204K	protein_coding, processed_transcript	uc001lcm.3	nonsynonymous SNV	exon7	c.G610A	p.E204K	LDPAEPCFQGTPELVRLDPSDAKFV	LDPAEPCFQGTPKLVRLDPSDAKFV	1.0	10.0	unscreened	-	3881_10:118314728-118314728 G>A_LDPAEPCFQGTPKLVRLDPSDAKFV
9:113192631-113192631 C>T	0.0	3881	MELANOMA	-	-	-	-	SVEP1	ENST00000374469,p.G1795E|uc010mtz.3,p.G1818E|ENST00000401783,p.G1818E|NM_153366,p.G1818E	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon33	c.G5453A	p.G1818E	TVGAEVTFSCQEGYQLMGVTKITCL	TVGAEVTFSCQEEYQLMGVTKITCL	2.0	10.0	unscreened	-	3881_9:113192631-113192631 C>T_TVGAEVTFSCQEEYQLMGVTKITCL
11:110479717-110479717 G>A	0.0	3881	MELANOMA	-	-	-	-	ARHGAP20	ENST00000528829,p.P220S|ENST00000524756,p.P233S|NM_001258416,p.P230S|uc001pkz.2,p.P256S|ENST00000260283,p.P256S|ENST00000357139,p.P230S|NM_001258415,p.P233S|uc031qdz.1,p.P220S|uc001pla.2,p.P230S|ENST00000533353,p.P230S|ENST00000527598,p.P220S|uc001pky.2,p.P233S|NM_020809,p.P256S|NM_001258418,p.P220S|NM_001258417,p.P220S|uc009yyb.2,p.P220S	protein_coding	uc031qdz.1	nonsynonymous SNV	exon8	c.C658T	p.P220S	LWVNSGKEEAPYPLIGHEYPYGIKM	LWVNSGKEEAPYSLIGHEYPYGIKM	3.0	7.0	unscreened	-	3881_11:110479717-110479717 G>A_LWVNSGKEEAPYSLIGHEYPYGIKM
16:81253792-81253792 G>A	0.0	3881	MELANOMA	-	-	-	-	PKD1L2	NM_001076780,p.H62Y|uc002fgj.3,p.H62Y|ENST00000599697,p.H62Y|ENST00000337114,p.H62Y	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	uc002fgj.3	nonsynonymous SNV	exon1	c.C184T	p.H62Y	RDAQSWCEGQGGHLVFIQDEGTQWF	RDAQSWCEGQGGYLVFIQDEGTQWF	6.0	5.0	unscreened	-	3881_16:81253792-81253792 G>A_RDAQSWCEGQGGYLVFIQDEGTQWF
15:83932432-83932432 G>A	0.0	3881	MELANOMA	-	-	-	-	BNC1	ENST00000345382,p.S524L|uc010uos.1,p.S512L|ENST00000569704,p.S517L|NM_001301206,p.S517L|NM_001717,p.S524L|uc002bjt.1,p.S524L	protein_coding	uc010uos.1	nonsynonymous SNV	exon4	c.C1535T	p.S512L	PLLSSSIPEQLISNEMPFDALPKKK	PLLSSSIPEQLILNEMPFDALPKKK	1.0	9.0	unscreened	-	3881_15:83932432-83932432 G>A_PLLSSSIPEQLILNEMPFDALPKKK
X:77913626-77913626 C>T	0.0	3881	MELANOMA	-	-	-	-	ZCCHC5	NM_152694,p.E98K|uc004edc.1,p.E98K|uc022bzi.1,p.E98K|ENST00000321110,p.E98K	protein_coding	uc022bzi.1	nonsynonymous SNV	exon1	c.G292A	p.E98K	QKPPEPQDLLPWEPPAAWELQEAPA	QKPPEPQDLLPWKPPAAWELQEAPA	1.0	2.0	unscreened	-	3881_X:77913626-77913626 C>T_QKPPEPQDLLPWKPPAAWELQEAPA
10:125506495-125506495 C>T	0.0	3881	MELANOMA	-	-	-	-	CPXM2	NM_198148,p.E686K|ENST00000241305,p.E686K|uc001lhk.1,p.E686K	protein_coding, processed_transcript	uc001lhk.1	nonsynonymous SNV	exon14	c.G2056A	p.E686K	NDGDYWRLLNPGEYVVTAKAEGFTA	NDGDYWRLLNPGKYVVTAKAEGFTA	3.0	1.0	unscreened	-	3881_10:125506495-125506495 C>T_NDGDYWRLLNPGKYVVTAKAEGFTA
12:21243002-21243002 G>A	0.0	3881	MELANOMA	-	-	ID=COSM692832;OCCURENCE=1(endometrium),1(lung)	-	SLCO1B7	NM_001009562,p.D629N|uc010sin.2,p.D629N|ENST00000553473,p.D737N|ENST00000554957,p.D676N|uc010sil.2,p.D737N|ENST00000381541,p.D676N|uc010sim.2,p.D676N|ENST00000540229,p.D737N|ENST00000421593,p.D629N	 nonsense_mediated_decay,protein_coding, processed_transcript	uc010sin.2	nonsynonymous SNV	exon13	c.G1885A	p.D629N	QVMDEANLEFLNDSEHFVPSAEEQ	QVMDEANLEFLNNSEHFVPSAEEQ	1.0	4.0	unscreened	-	3881_12:21243002-21243002 G>A_QVMDEANLEFLNNSEHFVPSAEEQ
13:19748182-19748182 C>T	0.0	3881	MELANOMA	-	-	-	-	TUBA3C	uc009zzj.3,p.D392N|NM_006001,p.D392N|ENST00000400113,p.D392N	protein_coding, processed_transcript	uc009zzj.3	nonsynonymous SNV	exon5	c.G1174A	p.D392N	NTTAIAEAWARLDHKFDLMYAKRAF	NTTAIAEAWARLNHKFDLMYAKRAF	3.0	1.0	unscreened	-	3881_13:19748182-19748182 C>T_NTTAIAEAWARLNHKFDLMYAKRAF
X:130218286-130218286 G>A	0.0	3881	MELANOMA	-	-	-	-	ARHGAP36	ENST00000370922,p.R206Q|uc004evz.3,p.R218Q|uc004ewa.3,p.R206Q|ENST00000370921,p.R82Q|ENST00000276211,p.R218Q|NM_144967,p.R218Q|uc004ewc.3,p.R82Q|uc004ewb.3,p.R187Q|ENST00000423277,p.R170Q|ENST00000412432,p.R187Q|NM_001282607,p.R206Q	protein_coding	uc004ewc.3	nonsynonymous SNV	exon2	c.G245A	p.R82Q	LQLSKISFPIGQRLLGSKRKMSLNP	LQLSKISFPIGQQLLGSKRKMSLNP	1.0	3.0	unscreened	-	3881_X:130218286-130218286 G>A_LQLSKISFPIGQQLLGSKRKMSLNP
13:35734081-35734081 G>A	1.0	3881	MELANOMA	-	-	-	2	NBEA	ENST00000540320,p.G1258E|NM_015678,p.G1258E|ENST00000310336,p.G1258E|uc021ric.1,p.G1258E|ENST00000400445,p.G1258E|uc021rid.1,p.G1258E|ENST00000379939,p.G1258E	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon22	c.G3773A	p.G1258E	SSSSKIVPNIDAGSIISDTERSDDG	SSSSKIVPNIDAESIISDTERSDDG	5.0	10.0	-	-	3881_13:35734081-35734081 G>A_SSSSKIVPNIDAESIISDTERSDDG
6:49754278-49754278 A>T	0.0	3881	MELANOMA	-	-	-	-	PGK2	uc003ozu.3,p.F208Y|NM_138733,p.F208Y|ENST00000304801,p.F208Y	protein_coding	uc003ozu.3	nonsynonymous SNV	exon1	c.T623A	p.F208Y	YFAKALENPVRPFLAILGGAKVADK	YFAKALENPVRPYLAILGGAKVADK	1.0	6.0	unscreened	-	3881_6:49754278-49754278 A>T_YFAKALENPVRPYLAILGGAKVADK
19:22498293-22498293 G>A	0.0	3881	MELANOMA	-	-	-	-	ZNF729	ENST00000357491,p.A692T|NM_001242680,p.A692T|ENST00000601693,p.A692T|uc021urs.1,p.A692T	protein_coding	uc021urs.1	nonsynonymous SNV	exon4	c.G2074A	p.A692T	GKKPYKCEECGKAFSHFSALRRHKI	GKKPYKCEECGKTFSHFSALRRHKI	1.0	4.0	unscreened	-	3881_19:22498293-22498293 G>A_GKKPYKCEECGKTFSHFSALRRHKI
16:81142873-81142873 G>A	0.0	3881	MELANOMA	-	-	-	-	PKD1L2	uc002fgf.1,p.R138C	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	uc002fgf.1	nonsynonymous SNV	exon9	c.C412T	p.R138C	SIASNLIFGWKLRSYKTLFDAAETM	SIASNLIFGWKLCSYKTLFDAAETM	6.0	3.0	unscreened	-	3881_16:81142873-81142873 G>A_SIASNLIFGWKLCSYKTLFDAAETM
19:39008217-39008217 C>T	0.0	3881	MELANOMA	-	-	-	-	RYR1	uc002oiu.3,p.P3302S|uc002oit.3,p.P3302S|NM_000540,p.P3302S|NM_001042723,p.P3302S|uc010xuf.1,p.P222S|ENST00000360985,p.P3302S|ENST00000355481,p.P3302S|ENST00000359596,p.P3302S	retained_intron, protein_coding, nonsense_mediated_decay	uc010xuf.1	nonsynonymous SNV	exon5	c.C664T	p.P222S	EAPPSALPAGAPPPCTAVTSDHLNS	EAPPSALPAGAPSPCTAVTSDHLNS	3.0	9.0	unscreened	-	3881_19:39008217-39008217 C>T_EAPPSALPAGAPSPCTAVTSDHLNS
X:76889065-76889065 C>T	0.0	3881	MELANOMA	-	-	ID=COSM4136391,COSM4136392;OCCURENCE=1(ovary)	1	ATRX	ENST00000395603,p.E1611K|NM_138270,p.E1611K|uc004ecp.4,p.E1649K|NM_000489,p.E1649K|uc004eco.4,p.E1434K|uc004ecq.4,p.E1611K|ENST00000373344,p.E1649K	protein_coding, processed_transcript	uc004ecq.4	nonsynonymous SNV	exon17	c.G4831A	p.E1611K	EFEKWQEGLKDDEKLEVSELATVKR	EFEKWQEGLKDDKKLEVSELATVKR	9.0	2.0	unscreened	-	3881_X:76889065-76889065 C>T_EFEKWQEGLKDDKKLEVSELATVKR
6:28053514-28053514 G>A	1.0	3881	MELANOMA	-	-	-	-	ZNF165	uc003nkh.3,p.E86K|uc003nki.4,p.E86K|ENST00000377325,p.E86K|uc021yro.1,p.E86K|NM_003447,p.E86K	protein_coding	uc021yro.1	nonsynonymous SNV	exon2	c.G256A	p.E86K	CCQWLKPEIHTKEQILELLVLEQFL	CCQWLKPEIHTKKQILELLVLEQFL	3.0	6.0	unscreened	-	3881_6:28053514-28053514 G>A_CCQWLKPEIHTKKQILELLVLEQFL
19:8999557-8999557 T>G	0.0	3881	MELANOMA	-	-	ID=COSM1305343,COSM1305342;OCCURENCE=1(urinary_tract)	2	MUC16	uc010dwj.3,p.K357Q|ENST00000380951,p.K181Q|uc002mkp.3,p.K13540Q|ENST00000397910,p.K13540Q|NM_024690,p.K13540Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dwj.3	nonsynonymous SNV	exon13	c.A1069C	p.K357Q	YSGCRLTLLRPKKDGAATKVDAICT	YSGCRLTLLRPKQDGAATKVDAICT	1.0	3.0	unscreened	-	3881_19:8999557-8999557 T>G_YSGCRLTLLRPKQDGAATKVDAICT
7:122839970-122839970 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC13A1	ENST00000427975,p.R11C|NM_022444,p.R11C|ENST00000194130,p.R11C|uc003vkm.3,p.R11C|ENST00000439260,p.R11C	protein_coding, nonsense_mediated_decay	uc003vkm.3	nonsynonymous SNV	exon1	c.C31T	p.R11C	MKFFSYILVYRRFLFVVFTVLVL	MKFFSYILVYCRFLFVVFTVLVL	1.0	9.0	unscreened	-	3881_7:122839970-122839970 G>A_MKFFSYILVYCRFLFVVFTVLVL
7:154862779-154862779 G>T	0.0	3881	MELANOMA	-	-	ID=COSM452764;OCCURENCE=1(breast)	-	HTR5A	uc011kvt.1,p.Q79K|ENST00000543018,p.Q79K	protein_coding, processed_transcript	uc011kvt.1	nonsynonymous SNV	exon1	c.C235A	p.Q79K	RTRRMVASTSRFQANVAATRKPSKA	RTRRMVASTSRFKANVAATRKPSKA	1.0	6.0	unscreened	-	3881_7:154862779-154862779 G>T_RTRRMVASTSRFKANVAATRKPSKA
15:64967603-64967603 T>A	1.0	3881	MELANOMA	-	-	-	-	ZNF609	uc002ann.3,p.D850E|ENST00000326648,p.D850E|NM_015042,p.D850E	protein_coding, processed_transcript	uc002ann.3	nonsynonymous SNV	exon4	c.T2550A	p.D850E	VKTNSPAYSDISDAGEDGEGKVDSV	VKTNSPAYSDISEAGEDGEGKVDSV	8.0	2.0	unscreened	-	3881_15:64967603-64967603 T>A_VKTNSPAYSDISEAGEDGEGKVDSV
19:9083177-9083177 G>A	0.0	3881	MELANOMA	-	-	-	2	MUC16	NM_024690,p.P2880S|ENST00000397910,p.P2880S|uc002mkp.3,p.P2880S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C8638T	p.P2880S	SPSKAFASLTTAPPTWGIPQSTLTF	SPSKAFASLTTASPTWGIPQSTLTF	1.0	1.0	unscreened	-	3881_19:9083177-9083177 G>A_SPSKAFASLTTASPTWGIPQSTLTF
22:26688887-26688887 C>T	0.0	3881	MELANOMA	-	-	-	-	SEZ6L	uc003ace.3,p.P204S|ENST00000360929,p.P204S|NM_001184774,p.P204S|NM_001184777,p.P204S|uc011akd.2,p.P204S|NM_001184775,p.P204S|ENST00000248933,p.P204S|uc003acc.3,p.P204S|NM_021115,p.P204S|uc011akc.2,p.P204S|NM_001184776,p.P204S|NM_001184773,p.P204S|ENST00000404234,p.P204S|uc003acb.3,p.P204S|ENST00000529632,p.P204S|ENST00000343706,p.P204S|uc003acd.3,p.P204S	retained_intron, protein_coding, processed_transcript	uc011akd.2	nonsynonymous SNV	exon2	c.C610T	p.P204S	AVPTTPAPLQISPFTSQPYVAHTLP	AVPTTPAPLQISSFTSQPYVAHTLP	1.0	3.0	unscreened	-	3881_22:26688887-26688887 C>T_AVPTTPAPLQISSFTSQPYVAHTLP
10:55780044-55780044 C>T	0.0	3881	MELANOMA	-	-	-	-	PCDH15	ENST00000395438,p.D887N|ENST00000361849,p.D887N|NM_001142773,p.D865N|ENST00000395445,p.D894N|ENST00000414778,p.D892N|uc010qhz.1,p.D887N|uc010qhw.1,p.D850N|ENST00000395432,p.D850N|ENST00000373955,p.D887N|uc021pqv.1,p.D887N|NM_001142766,p.D887N|uc001jjw.3,p.D887N|NM_001142765,p.D816N|uc021pqy.1,p.D887N|uc010qhr.2,p.D887N|ENST00000409834,p.D498N|NM_001142767,p.D850N|uc010qhq.2,p.D892N|NM_001142763,p.D892N|NM_001142768,p.D865N|uc021pqz.1,p.D865N|ENST00000437009,p.D816N|NM_033056,p.D887N|ENST00000395433,p.D865N|uc010qhx.1,p.D816N|uc010qht.2,p.D894N|uc010qib.1,p.D865N|uc010qhy.1,p.D892N|uc021pqx.1,p.D887N|uc021pqw.1,p.D899N|uc010qhv.1,p.D887N|NM_001142764,p.D887N|ENST00000373965,p.D894N|ENST00000395430,p.D887N|uc001jju.1,p.D887N|uc010qia.1,p.D865N|ENST00000320301,p.D887N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon18	c.G2593A	p.D865N	SLLRSLDYEAFPDQEASITFLVEAF	SLLRSLDYEAFPNQEASITFLVEAF	1.0	10.0	unscreened	-	3881_10:55780044-55780044 C>T_SLLRSLDYEAFPNQEASITFLVEAF
7:141740613-141740613 C>T	0.0	3881	MELANOMA	-	-	-	-	MGAM	NM_004668,p.P822L|uc003vwy.3,p.P822L|ENST00000475668,p.P822L|ENST00000549489,p.P822L	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon21	c.C2465T	p.P822L	KIGLHLRGGYIFPTQQPNTTTLASR	KIGLHLRGGYIFLTQQPNTTTLASR	3.0	1.0	unscreened	-	3881_7:141740613-141740613 C>T_KIGLHLRGGYIFLTQQPNTTTLASR
4:69101765-69101765 G>A	0.0	3881	MELANOMA	-	-	-	-	TMPRSS11B	ENST00000332644,p.S88F|NM_182502,p.S88F|uc003hdw.4,p.S88F	retained_intron, protein_coding	uc003hdw.4	nonsynonymous SNV	exon4	c.C263T	p.S88F	DIETKMLNAFQNSSIYKEYVKSEVI	DIETKMLNAFQNFSIYKEYVKSEVI	1.0	2.0	unscreened	-	3881_4:69101765-69101765 G>A_DIETKMLNAFQNFSIYKEYVKSEVI
11:6292144-6292144 G>A	0.0	3881	MELANOMA	-	-	-	-	CCKBR	ENST00000525462,p.E308K|uc001mcs.3,p.E308K	protein_coding, processed_transcript	uc001mcs.3	nonsynonymous SNV	exon4	c.G922A	p.E308K	GTEMKVRVRRKLEMELSWERRSGGD	GTEMKVRVRRKLKMELSWERRSGGD	1.0	2.0	unscreened	-	3881_11:6292144-6292144 G>A_GTEMKVRVRRKLKMELSWERRSGGD
22:44692700-44692700 A>T	0.0	3881	MELANOMA	-	-	-	-	KIAA1644	uc003bet.2,p.F45I|NM_001099294,p.F45I|ENST00000381176,p.F45I	protein_coding	uc003bet.2	nonsynonymous SNV	exon3	c.T133A	p.F45I	PYTDHKGRYHFGFHCPRLSDNKTFI	PYTDHKGRYHFGIHCPRLSDNKTFI	2.0	4.0	unscreened	-	3881_22:44692700-44692700 A>T_PYTDHKGRYHFGIHCPRLSDNKTFI
5:34954697-34954697 C>T	1.0	3881	MELANOMA	-	-	-	-	DNAJC21	NM_194283,p.P537S|uc003jjc.3,p.P492S|uc003jjb.3,p.P537S|ENST00000342382,p.P492S|ENST00000382021,p.P537S|NM_001012339,p.P492S|ENST00000303525,p.P505S	retained_intron, protein_coding, processed_transcript	uc003jjc.3	nonsynonymous SNV	exon12	c.C1474T	p.P492S	VLISCTTCHSEFPSRNKLFDHLKAT	VLISCTTCHSEFSSRNKLFDHLKAT	9.0	7.0	unscreened	-	3881_5:34954697-34954697 C>T_VLISCTTCHSEFSSRNKLFDHLKAT
3:185245356-185245356 G>A	1.0	3881	MELANOMA	-	-	-	-	LIPH	ENST00000296252,p.P182S|NM_139248,p.P182S|uc003fpm.3,p.P182S	protein_coding, nonsense_mediated_decay	uc003fpm.3	nonsynonymous SNV	exon4	c.C544T	p.P182S	WLGRITGLDPAGPLFNGKPHQDRLD	WLGRITGLDPAGSLFNGKPHQDRLD	4.0	2.0	unscreened	-	3881_3:185245356-185245356 G>A_WLGRITGLDPAGSLFNGKPHQDRLD
7:154862779-154862779 G>T	0.0	3881	MELANOMA	-	-	ID=COSM452764;OCCURENCE=1(breast)	-	HTR5A	uc003wlt.2,p.Q79K|ENST00000395731,p.Q79K	protein_coding, processed_transcript	uc003wlt.2	nonsynonymous SNV	exon1	c.C235A	p.Q79K	RTRRMVASTSRFQANVAATRKPSKS	RTRRMVASTSRFKANVAATRKPSKS	1.0	6.0	unscreened	-	3881_7:154862779-154862779 G>T_RTRRMVASTSRFKANVAATRKPSKS
18:19780733-19780733 G>A	0.0	3881	MELANOMA	-	-	ID=COSM986963;OCCURENCE=1(endometrium)	-	GATA6	ENST00000269216,p.E579K|uc002ktu.2,p.E579K|uc002ktt.2,p.E579K|ENST00000581694,p.E579K|NM_005257,p.E579K	protein_coding	uc002ktu.2	nonsynonymous SNV	exon6	c.G1735A	p.E579K	GLYIGVSLASPAEVTSSVRPDSWCA	GLYIGVSLASPAKVTSSVRPDSWCA	2.0	2.0	unscreened	-	3881_18:19780733-19780733 G>A_GLYIGVSLASPAKVTSSVRPDSWCA
16:67691312-67691312 C>T	0.0	3881	MELANOMA	-	-	-	-	RLTPR	ENST00000545661,p.S1337F|uc010vjr.2,p.S1337F|NM_001013838,p.S1400F|ENST00000334583,p.S1400F|uc002etn.3,p.S1400F	protein_coding	uc010vjr.2	nonsynonymous SNV	exon38	c.C4010T	p.S1337F	PKLEAPPSPSLGSGLGTEPLPPQPT	PKLEAPPSPSLGFGLGTEPLPPQPT	3.0	7.0	unscreened	-	3881_16:67691312-67691312 C>T_PKLEAPPSPSLGFGLGTEPLPPQPT
3:38892139-38892139 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1720340;OCCURENCE=2(NS)	-	SCN11A	ENST00000450244,p.S1387L|uc003cis.1,p.S52L|ENST00000444237,p.S1387L|NM_001287223,p.S1387L|ENST00000302328,p.S1387L|ENST00000456224,p.S1349L|uc021wvy.1,p.S1387L|NM_014139,p.S1387L	protein_coding	uc021wvy.1	nonsynonymous SNV	exon25	c.C4160T	p.S1387L	LIILNMISMMAESYNQPKAMKSILD	LIILNMISMMAELYNQPKAMKSILD	2.0	10.0	unscreened	-	3881_3:38892139-38892139 G>A_LIILNMISMMAELYNQPKAMKSILD
19:52942068-52942068 C>T	0.0	3881	MELANOMA	-	-	-	-	ZNF534	ENST00000332323,p.S465F|uc002pzl.3,p.S452F|NM_001143939,p.S465F|uc002pzk.3,p.S465F|ENST00000433050,p.S452F|NM_001143938,p.S452F	protein_coding	uc002pzl.3	nonsynonymous SNV	exon4	c.C1355T	p.S452F	CIDCGKVFRHKSSLTYHCRIHTGEK	CIDCGKVFRHKSFLTYHCRIHTGEK	1.0	6.0	unscreened	-	3881_19:52942068-52942068 C>T_CIDCGKVFRHKSFLTYHCRIHTGEK
3:49699497-49699497 G>A	0.0	3881	MELANOMA	-	-	-	-	BSN	uc003cxe.4,p.E3407K|NM_003458,p.E3407K|ENST00000296452,p.E3407K	retained_intron, protein_coding	uc003cxe.4	nonsynonymous SNV	exon6	c.G10219A	p.E3407K	SSLVSRGRKFQDEITYGLKKNVYEQ	SSLVSRGRKFQDKITYGLKKNVYEQ	3.0	2.0	unscreened	-	3881_3:49699497-49699497 G>A_SSLVSRGRKFQDKITYGLKKNVYEQ
4:177608633-177608633 C>T	0.0	3881	MELANOMA	-	-	-	-	VEGFC	NM_005429,p.E285K|uc003ius.1,p.E285K|ENST00000280193,p.E285K	protein_coding, processed_transcript	uc003ius.1	nonsynonymous SNV	exon6	c.G853A	p.E285K	TDGFHDICGPNKELDEETCQCVCRA	TDGFHDICGPNKKLDEETCQCVCRA	5.0	9.0	unscreened	-	3881_4:177608633-177608633 C>T_TDGFHDICGPNKKLDEETCQCVCRA
7:23811806-23811806 G>A	0.0	3881	MELANOMA	-	-	-	-	STK31	uc010kuq.4,p.S602N|ENST00000354639,p.S602N|uc011jze.3,p.S625N|ENST00000433467,p.S625N|NM_001260504,p.S602N|uc031swr.1,p.S602N|NM_031414,p.S625N|uc003swt.5,p.S602N|NM_032944,p.S602N|ENST00000355870,p.S625N|NM_001260505,p.S625N|ENST00000428484,p.S602N|uc003sws.5,p.S625N	retained_intron, protein_coding, processed_transcript	uc031swr.1	nonsynonymous SNV	exon15	c.G1805A	p.S602N	KKQLIEYLNKSPSVDHLLSIKKTLK	KKQLIEYLNKSPNVDHLLSIKKTLK	1.0	3.0	unscreened	-	3881_7:23811806-23811806 G>A_KKQLIEYLNKSPNVDHLLSIKKTLK
11:12281379-12281379 G>A	0.0	3881	MELANOMA	-	-	-	-	MICAL2	NM_001282666,p.R864K|uc010rci.2,p.R1069K|uc001mkb.3,p.R864K|NM_001282663,p.R1090K|ENST00000527546,p.R900K|ENST00000342902,p.R1069K|uc001mkd.3,p.R672K|NM_001282664,p.R1069K|uc001mjz.3,p.R1090K|uc010rcj.2,p.R302K|ENST00000256194,p.R1090K|NM_001282667,p.R843K|NM_014632,p.R1090K|NM_001282665,p.R900K|uc010rch.1,p.R900K|ENST00000379612,p.R864K|uc001mka.3,p.R1090K|uc001mkc.3,p.R843K|ENST00000537344,p.R900K	retained_intron, protein_coding, processed_transcript	uc010rcj.2	nonsynonymous SNV	exon12	c.G905A	p.R302K	EEATWQEQEAPRRDTPTESSCAVAA	EEATWQEQEAPRKDTPTESSCAVAA	6.0	9.0	unscreened	-	3881_11:12281379-12281379 G>A_EEATWQEQEAPRKDTPTESSCAVAA
2:101093863-101093863 C>T	0.0	3881	MELANOMA	-	-	-	-	NMS	NM_001011717,p.P83L|ENST00000376865,p.P83L|uc002tan.1,p.P83L	protein_coding	uc002tan.1	nonsynonymous SNV	exon5	c.C248T	p.P83L	LFHYSRTQEATHPVKTGFPPVHPLM	LFHYSRTQEATHLVKTGFPPVHPLM	1.0	2.0	unscreened	-	3881_2:101093863-101093863 C>T_LFHYSRTQEATHLVKTGFPPVHPLM
X:140993312-140993312 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1116262;OCCURENCE=1(endometrium)	-	MAGEC1	ENST00000285879,p.S41F|NM_005462,p.S41F|uc004fbt.3,p.S41F	protein_coding	uc004fbt.3	nonsynonymous SNV	exon4	c.C122T	p.S41F	EDSQSPLQIPQSSPESDDTLYPLQS	EDSQSPLQIPQSFPESDDTLYPLQS	3.0	3.0	unscreened	-	3881_X:140993312-140993312 C>T_EDSQSPLQIPQSFPESDDTLYPLQS
18:47405400-47405400 C>T	1.0	3881	MELANOMA	-	-	-	-	MYO5B	uc002leb.2,p.R1064Q|uc002lea.2,p.R205Q|ENST00000324581,p.R205Q|ENST00000285039,p.R1064Q|NM_001080467,p.R1064Q	retained_intron, protein_coding, processed_transcript	uc002leb.2	nonsynonymous SNV	exon24	c.G3191A	p.R1064Q	KENLMKKELEEERSRYQNLVKEYSQ	KENLMKKELEEEQSRYQNLVKEYSQ	8.0	3.0	unscreened	-	3881_18:47405400-47405400 C>T_KENLMKKELEEEQSRYQNLVKEYSQ
4:166235296-166235296 G>C	0.0	3881	MELANOMA	-	-	-	-	KLHL2	ENST00000538127,p.M441I|NM_001161521,p.M533I|uc010ira.3,p.M182I|uc003irc.3,p.M441I|ENST00000514860,p.M533I|ENST00000421009,p.M432I|NM_001161522,p.M441I|ENST00000226725,p.M529I|uc003irb.3,p.M529I|uc011cjm.2,p.M533I|NM_007246,p.M529I|ENST00000506761,p.M363I	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cjm.2	nonsynonymous SNV	exon13	c.G1599C	p.M533I	DPTTNAWRQVADMNMCRRNAGVCAV	DPTTNAWRQVADINMCRRNAGVCAV	5.0	10.0	unscreened	-	3881_4:166235296-166235296 G>C_DPTTNAWRQVADINMCRRNAGVCAV
6:33766893-33766893 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1078175;OCCURENCE=1(endometrium)	-	MLN	uc003off.1,p.E75K|ENST00000507738,p.E75K|uc003ofg.1,p.E75K|ENST00000266003,p.E75K|NM_001040109,p.E75K|ENST00000430124,p.E75K|NM_001184698,p.E75K|uc011drn.1,p.E75K|NM_002418,p.E75K	protein_coding	uc011drn.1	nonsynonymous SNV	exon3	c.G223A	p.E75K	VDPAEPIREEENEMIKLTAPLEIGM	VDPAEPIREEENKMIKLTAPLEIGM	1.0	10.0	unscreened	-	3881_6:33766893-33766893 C>T_VDPAEPIREEENKMIKLTAPLEIGM
5:66460534-66460534 C>T	0.0	3881	MELANOMA	-	-	-	-	MAST4	NM_015183,p.L1654F|ENST00000404260,p.L1846F|uc003juw.3,p.L1582F|uc003jut.2,p.L1654F|NM_001164664,p.L1843F|NM_001290227,p.L1582F|uc021xzk.1,p.L1843F|ENST00000403666,p.L1654F|ENST00000403625,p.L1843F|ENST00000261569,p.L1649F|NM_001297651,p.L1649F|NM_001290226,p.L1637F|ENST00000405643,p.L1664F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xzk.1	nonsynonymous SNV	exon29	c.C5527T	p.L1843F	PSGDVRASVPPVLPSSSGKKNDTTS	PSGDVRASVPPVFPSSSGKKNDTTS	5.0	8.0	unscreened	-	3881_5:66460534-66460534 C>T_PSGDVRASVPPVFPSSSGKKNDTTS
6:7727736-7727736 A>G	0.0	3881	MELANOMA	-	-	-	-	BMP6	NM_001718,p.N183S|uc003mxu.4,p.N183S|ENST00000283147,p.N183S	protein_coding	uc003mxu.4	nonsynonymous SNV	exon1	c.A548G	p.N183S	RRQPPPGAAHPLNRKSLLAPGSGSG	RRQPPPGAAHPLSRKSLLAPGSGSG	3.0	1.0	unscreened	-	3881_6:7727736-7727736 A>G_RRQPPPGAAHPLSRKSLLAPGSGSG
19:51649334-51649334 C>T	0.0	3881	MELANOMA	-	-	ID=COSM440097;OCCURENCE=1(breast)	-	SIGLEC7	NM_014385,p.S328F|ENST00000305628,p.S235F|ENST00000317643,p.S328F|uc002pvv.1,p.S328F|uc002pvw.1,p.S235F|NM_016543,p.S235F	retained_intron, protein_coding, nonsense_mediated_decay	uc002pvw.1	nonsynonymous SNV	exon3	c.C704T	p.S235F	GEFTCRAQNSLGSQHVSLNLSLQQE	GEFTCRAQNSLGFQHVSLNLSLQQE	5.0	9.0	unscreened	-	3881_19:51649334-51649334 C>T_GEFTCRAQNSLGFQHVSLNLSLQQE
12:101430918-101430918 C>T	0.0	3881	MELANOMA	-	-	-	-	ANO4	NM_178826,p.P261L|uc001thx.2,p.P296L|ENST00000392979,p.P261L|ENST00000392977,p.P296L|uc010svm.1,p.P296L|NM_001286616,p.P296L|NM_001286615,p.P296L|uc001thw.2,p.P261L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010svm.1	nonsynonymous SNV	exon10	c.C887T	p.P296L	RLLTNGSYEAAFPLHEGSYRSKNSI	RLLTNGSYEAAFLLHEGSYRSKNSI	1.0	6.0	unscreened	-	3881_12:101430918-101430918 C>T_RLLTNGSYEAAFLLHEGSYRSKNSI
11:60541332-60541332 C>T	0.0	3881	MELANOMA	-	-	-	-	MS4A15	ENST00000528170,p.A133V|ENST00000337911,p.A81V|uc009ynf.1,p.A174V|NM_152717,p.A81V|uc001npx.2,p.A81V|NM_001098835,p.A174V|uc009yng.1,p.A133V|NM_001278242,p.A133V|ENST00000405633,p.A174V	protein_coding, nonsense_mediated_decay	uc009yng.1	nonsynonymous SNV	exon5	c.C398T	p.A133V	GVTNRDVDRGYLAVLTIFTVLEFFT	GVTNRDVDRGYLVVLTIFTVLEFFT	1.0	7.0	unscreened	-	3881_11:60541332-60541332 C>T_GVTNRDVDRGYLVVLTIFTVLEFFT
10:124380632-124380632 G>A	0.0	3881	MELANOMA	-	-	-	-	DMBT1	uc009xzz.1,p.V1653M|NM_007329,p.V1653M|NM_017579,p.V1643M|uc009yab.1,p.V356M|uc001lgm.1,p.V1025M|uc021qaf.1,p.V1653M|uc001lgk.1,p.V1653M|NM_004406,p.V1025M|ENST00000368956,p.V1025M|ENST00000368955,p.V1643M|ENST00000344338,p.V1643M|ENST00000368909,p.V1653M|uc001lgl.1,p.V1643M|ENST00000330163,p.V1025M|uc021qah.1,p.V1025M|uc021qag.1,p.V1643M|ENST00000338354,p.V1653M	protein_coding	uc021qah.1	nonsynonymous SNV	exon28	c.G3073A	p.V1025M	RLVNGGDRCRGRVEVLYRGSWGTVC	RLVNGGDRCRGRMEVLYRGSWGTVC	1.0	2.0	unscreened	-	3881_10:124380632-124380632 G>A_RLVNGGDRCRGRMEVLYRGSWGTVC
5:160973609-160973609 G>A	0.0	3881	MELANOMA	-	-	-	-	GABRB2	ENST00000520240,p.S14F|uc003lyr.1,p.S14F|ENST00000353437,p.S14F|ENST00000393959,p.S14F|uc003lyt.1,p.S14F|uc011dei.1,p.S14F|NM_021911,p.S14F|ENST00000274547,p.S14F|uc003lys.1,p.S14F|NM_000813,p.S14F	retained_intron, protein_coding, processed_transcript	uc011dei.1	nonsynonymous SNV	exon1	c.C41T	p.S14F	WRVRKRGYFGIWSFPLIIAAVCAQS	WRVRKRGYFGIWFFPLIIAAVCAQS	3.0	5.0	unscreened	-	3881_5:160973609-160973609 G>A_WRVRKRGYFGIWFFPLIIAAVCAQS
X:54259344-54259344 G>A	1.0	3881	MELANOMA	-	-	-	-	WNK3	uc004dtc.2,p.P1580S|ENST00000375169,p.P1533S|ENST00000375159,p.P1580S|NM_001002838,p.P1533S|NM_020922,p.P1580S|uc004dtd.2,p.P1533S|ENST00000354646,p.P1580S	protein_coding	uc004dtd.2	nonsynonymous SNV	exon21	c.C4597T	p.P1533S	SIKDSKTQSTEIPLPPASPRRPRSF	SIKDSKTQSTEISLPPASPRRPRSF	6.0	2.0	unscreened	-	3881_X:54259344-54259344 G>A_SIKDSKTQSTEISLPPASPRRPRSF
2:113764193-113764193 C>T	0.0	3881	MELANOMA	-	-	-	-	IL36A	uc010yxr.2,p.S48L|ENST00000259211,p.S48L|NM_014440,p.S48L	protein_coding	uc010yxr.2	nonsynonymous SNV	exon3	c.C143T	p.S48L	KDRMSPVTIALISCRHVETLEKDRG	KDRMSPVTIALILCRHVETLEKDRG	1.0	5.0	unscreened	-	3881_2:113764193-113764193 C>T_KDRMSPVTIALILCRHVETLEKDRG
3:126272152-126272152 G>A	0.0	3881	MELANOMA	-	-	-	-	C3orf22	ENST00000318225,p.P28S|ENST00000505070,p.P28S|NM_152533,p.P28S|uc003ejb.3,p.P28S	protein_coding, nonsense_mediated_decay	uc003ejb.3	nonsynonymous SNV	exon2	c.C82T	p.P28S	RIQAQENFAKKFPYRLSWLTEPDPE	RIQAQENFAKKFSYRLSWLTEPDPE	1.0	1.0	unscreened	-	3881_3:126272152-126272152 G>A_RIQAQENFAKKFSYRLSWLTEPDPE
11:70179641-70179641 G>T	1.0	3881	MELANOMA	-	-	-	-	PPFIA1	ENST00000389547,p.K426N|uc001opo.3,p.K426N|NM_177423,p.K426N|ENST00000532504,p.K426N|ENST00000253925,p.K426N|NM_003626,p.K426N|uc001opn.2,p.K426N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001opo.3	nonsynonymous SNV	exon10	c.G1278T	p.K426N	ERLRQMEAQLEEKNQELQRARQREK	ERLRQMEAQLEENNQELQRARQREK	10.0	1.0	unscreened	-	3881_11:70179641-70179641 G>T_ERLRQMEAQLEENNQELQRARQREK
9:101767318-101767318 G>A	1.0	3881	MELANOMA	-	-	ID=COSM231185;OCCURENCE=1(skin)	-	COL15A1	uc004azb.2,p.E447K|NM_001855,p.E447K|ENST00000375001,p.E447K	retained_intron, protein_coding, processed_transcript	uc004azb.2	nonsynonymous SNV	exon9	c.G1339A	p.E447K	ELDLSMSAQSLGEEATVGPSSEDSL	ELDLSMSAQSLGKEATVGPSSEDSL	7.0	10.0	-	-	3881_9:101767318-101767318 G>A_ELDLSMSAQSLGKEATVGPSSEDSL
11:124413099-124413099 C>T	0.0	3881	MELANOMA	-	-	-	-	OR8B12	uc010sam.2,p.G151E|ENST00000306842,p.G151E|NM_001005195,p.G151E	protein_coding	uc010sam.2	nonsynonymous SNV	exon1	c.G452A	p.G151E	VCLLLLLGAYGMGFAGAMAHTGSIM	VCLLLLLGAYGMEFAGAMAHTGSIM	1.0	8.0	unscreened	-	3881_11:124413099-124413099 C>T_VCLLLLLGAYGMEFAGAMAHTGSIM
2:121995199-121995199 C>T	0.0	3881	MELANOMA	-	-	-	-	TFCP2L1	NM_014553,p.G335S|uc002tmx.3,p.G335S|ENST00000263707,p.G335S|uc010flr.3,p.G335S	retained_intron, protein_coding	uc010flr.3	nonsynonymous SNV	exon10	c.G1003A	p.G335S	FSQFCRLFASFSGADLLKMSRDDLV	FSQFCRLFASFSSADLLKMSRDDLV	2.0	4.0	unscreened	-	3881_2:121995199-121995199 C>T_FSQFCRLFASFSSADLLKMSRDDLV
10:858873-858873 G>A	1.0	3881	MELANOMA	-	-	-	2	LARP4B	uc031ptb.1,p.P737L|NM_015155,p.P737L|ENST00000316157,p.P737L	protein_coding, processed_transcript	uc031ptb.1	nonsynonymous SNV	exon18	c.C2210T	p.P737L	RLSREQSTPPKSPQ	RLSREQSTPPKSLQ	9.0	9.0	-	-	3881_10:858873-858873 G>A_RLSREQSTPPKSLQ
3:150387099-150387099 G>A	0.0	3881	MELANOMA	-	-	-	-	ERICH6	ENST00000295910,p.P495S|NM_152394,p.P495S|uc003eyh.3,p.P349S|ENST00000491361,p.P349S|uc003eyg.3,p.P495S	retained_intron, protein_coding	uc003eyh.3	nonsynonymous SNV	exon12	c.C1045T	p.P349S	VLDSSGRSSCYHPNGNVWVYINILG	VLDSSGRSSCYHSNGNVWVYINILG	3.0	9.0	unscreened	-	3881_3:150387099-150387099 G>A_VLDSSGRSSCYHSNGNVWVYINILG
8:110100202-110100202 C>T	0.0	3881	MELANOMA	-	-	-	-	TRHR	uc003ymz.4,p.S154F|ENST00000518632,p.S154F|NM_003301,p.S154F|ENST00000311762,p.S154F	protein_coding	uc003ymz.4	nonsynonymous SNV	exon1	c.C461T	p.S154F	AKKIIIFVWAFTSLYCMLWFFLLDL	AKKIIIFVWAFTFLYCMLWFFLLDL	1.0	6.0	unscreened	-	3881_8:110100202-110100202 C>T_AKKIIIFVWAFTFLYCMLWFFLLDL
5:180374527-180374527 C>T	0.0	3881	MELANOMA	-	-	-	-	BTNL8	uc003mmq.3,p.P230L|uc011dhh.2,p.P46L|uc003mmp.3,p.P230L|NM_024850,p.P230L|ENST00000533815,p.P46L|uc010jlm.3,p.P114L|NM_001159709,p.P105L|NM_001040462,p.P230L|ENST00000511704,p.P114L|NM_001159708,p.P230L|ENST00000400707,p.P105L|ENST00000231229,p.P230L|uc010jll.3,p.P230L|uc011dhg.2,p.P105L|NM_001159710,p.P46L|ENST00000340184,p.P230L|ENST00000508408,p.P230L|NM_001159707,p.P114L|ENST00000505126,p.P23L	retained_intron, protein_coding, nonsense_mediated_decay	uc011dhh.2	nonsynonymous SNV	exon3	c.C137T	p.P46L	ESRVQIGDTFFEPISWHLATKVLGI	ESRVQIGDTFFELISWHLATKVLGI	1.0	8.0	unscreened	-	3881_5:180374527-180374527 C>T_ESRVQIGDTFFELISWHLATKVLGI
12:7177777-7177777 G>A	0.0	3881	MELANOMA	-	-	-	-	C1S	ENST00000406697,p.G630E|ENST00000360817,p.G630E|uc009zfr.3,p.G463E|uc001qsk.3,p.G630E|ENST00000328916,p.G630E|uc001qsl.3,p.G630E|ENST00000402681,p.G463E|NM_001734,p.G630E|uc001qsj.3,p.G630E|NM_201442,p.G630E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zfr.3	nonsynonymous SNV	exon11	c.G1388A	p.G463E	CAGGEKGMDSCKGDSGGAFAVQDPN	CAGGEKGMDSCKEDSGGAFAVQDPN	8.0	4.0	unscreened	-	3881_12:7177777-7177777 G>A_CAGGEKGMDSCKEDSGGAFAVQDPN
11:20178065-20178065 C>T	0.0	3881	MELANOMA	-	-	-	-	DBX1	uc021qez.1,p.E281K|ENST00000524983,p.E243K|NM_001029865,p.E243K|uc021qey.1,p.E243K|ENST00000227256,p.E282K	protein_coding	uc021qez.1	nonsynonymous SNV	exon4	c.G841A	p.E281K	NRRMKWRNSKERELLSSGGCREQTL	NRRMKWRNSKERKLLSSGGCREQTL	1.0	9.0	unscreened	-	3881_11:20178065-20178065 C>T_NRRMKWRNSKERKLLSSGGCREQTL
12:22013981-22013981 G>A	0.0	3881	MELANOMA	-	-	-	-	ABCC9	ENST00000261201,p.A783V|ENST00000345162,p.A747V|uc001rfh.3,p.A783V|ENST00000544039,p.A410V|uc001rfi.1,p.A783V|ENST00000261200,p.A783V|NM_005691,p.A783V|NM_020297,p.A783V	protein_coding	uc001rfi.1	nonsynonymous SNV	exon19	c.C2348T	p.A783V	TFGSPFNKQRYKAVTDACSLQPDID	TFGSPFNKQRYKVVTDACSLQPDID	5.0	2.0	unscreened	-	3881_12:22013981-22013981 G>A_TFGSPFNKQRYKVVTDACSLQPDID
20:42169671-42169671 G>A	0.0	3881	MELANOMA	-	-	-	-	L3MBTL1	ENST00000373135,p.G741E|NM_032107,p.G809E|uc002xkl.3,p.G741E|ENST00000418998,p.G809E|ENST00000427442,p.G809E|uc002xkp.3,p.G129E|uc010zwh.2,p.G809E|NM_015478,p.G741E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zwh.2	nonsynonymous SNV	exon22	c.G2426A	p.G809E	LGDLVCSDHLQEGKGILETGVHSLL	LGDLVCSDHLQEEKGILETGVHSLL	8.0	6.0	unscreened	-	3881_20:42169671-42169671 G>A_LGDLVCSDHLQEEKGILETGVHSLL
8:77768045-77768045 G>A	1.0	3881	MELANOMA	-	-	-	-	ZFHX4	ENST00000518282,p.G2937E|NM_024721,p.G2963E|uc003yau.2,p.G2963E|ENST00000455469,p.G2918E|ENST00000521891,p.G2963E|ENST00000050961,p.G2918E|uc003yaw.1,p.G2918E	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon9	c.G8753A	p.G2918E	YRTPTMQECEMLGNEIGLPKRVVQV	YRTPTMQECEMLENEIGLPKRVVQV	7.0	3.0	unscreened	-	3881_8:77768045-77768045 G>A_YRTPTMQECEMLENEIGLPKRVVQV
16:31230710-31230710 G>T	0.0	3881	MELANOMA	-	-	-	-	TRIM72	uc002ebn.2,p.R196L|ENST00000322122,p.R196L|NM_001008274,p.R196L	protein_coding	uc002ebn.2	nonsynonymous SNV	exon4	c.G587T	p.R196L	AALEGSLDREAERVRGEAGVALRRE	AALEGSLDREAELVRGEAGVALRRE	1.0	6.0	unscreened	-	3881_16:31230710-31230710 G>T_AALEGSLDREAELVRGEAGVALRRE
19:41622121-41622121 C>T	0.0	3881	MELANOMA	-	-	-	-	CYP2F1	uc002opu.1,p.L10F|NM_000774,p.L10F|ENST00000532164,p.L10F|uc010xvv.1,p.L10F|ENST00000331105,p.L10F	retained_intron, protein_coding, nonsense_mediated_decay, non_stop_decay	uc010xvv.1	nonsynonymous SNV	exon2	c.C28T	p.L10F	MDSISTAILLLLLALVCLLLTL	MDSISTAILFLLLALVCLLLTL	1.0	6.0	unscreened	-	3881_19:41622121-41622121 C>T_MDSISTAILFLLLALVCLLLTL
1:111060917-111060917 C>T	0.0	3881	MELANOMA	-	-	-	-	KCNA10	ENST00000369771,p.E165K|NM_005549,p.E165K|uc001dzt.1,p.E165K	protein_coding	uc001dzt.1	nonsynonymous SNV	exon1	c.G493A	p.E165K	RPANVPIDIFADEISFYELGSEAMD	RPANVPIDIFADKISFYELGSEAMD	1.0	4.0	unscreened	-	3881_1:111060917-111060917 C>T_RPANVPIDIFADKISFYELGSEAMD
6:41738677-41738677 G>A	0.0	3881	MELANOMA	-	-	-	-	FRS3	uc003orc.1,p.P387S|ENST00000259748,p.P387S|ENST00000373018,p.P387S|NM_006653,p.P387S	protein_coding, processed_transcript	uc003orc.1	nonsynonymous SNV	exon7	c.C1159T	p.P387S	STRAAIRSHGSFPVPLTRRRGSPRV	STRAAIRSHGSFSVPLTRRRGSPRV	4.0	1.0	unscreened	-	3881_6:41738677-41738677 G>A_STRAAIRSHGSFSVPLTRRRGSPRV
4:47938893-47938893 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1055756;OCCURENCE=1(endometrium)	-	CNGA1	ENST00000358519,p.D540N|NM_000087,p.D540N|uc003gxu.3,p.D609N|ENST00000420489,p.D540N|NM_001142564,p.D609N|ENST00000514170,p.D540N|uc003gxt.4,p.D540N|ENST00000544810,p.D540N|ENST00000402813,p.D609N	retained_intron, protein_coding	uc003gxu.3	nonsynonymous SNV	exon10	c.G1825A	p.D609N	ADDGVTQFVVLSDGSYFGEISILNI	ADDGVTQFVVLSNGSYFGEISILNI	1.0	1.0	unscreened	-	3881_4:47938893-47938893 C>T_ADDGVTQFVVLSNGSYFGEISILNI
22:39884364-39884364 G>A	0.0	3881	MELANOMA	-	-	-	-	MGAT3	uc010gxy.3,p.E338K|NM_001098270,p.E338K|NM_002409,p.E338K|ENST00000341184,p.E338K|uc003axv.4,p.E338K	protein_coding	uc010gxy.3	nonsynonymous SNV	exon1	c.G1012A	p.E338K	GVLFLKLYDGWTEPFAFHMRKSLYG	GVLFLKLYDGWTKPFAFHMRKSLYG	2.0	7.0	unscreened	-	3881_22:39884364-39884364 G>A_GVLFLKLYDGWTKPFAFHMRKSLYG
17:66881447-66881447 A>T	0.0	3881	MELANOMA	-	-	-	-	ABCA8	uc010wqq.2,p.F1147I|uc002jhp.3,p.F1107I|ENST00000269080,p.F1107I|NM_007168,p.F1107I|ENST00000430352,p.F1147I|NM_001288986,p.F1147I|NM_001288985,p.F1147I|ENST00000586539,p.F1147I|uc002jhq.3,p.F1147I	retained_intron, protein_coding, non_stop_decay	uc010wqq.2	nonsynonymous SNV	exon26	c.T3439A	p.F1147I	GIWSFCFYVVTVFSVAGFAFSIFES	GIWSFCFYVVTVISVAGFAFSIFES	4.0	6.0	unscreened	-	3881_17:66881447-66881447 A>T_GIWSFCFYVVTVISVAGFAFSIFES
11:59271208-59271208 C>T	0.0	3881	MELANOMA	-	-	ID=COSM192954;OCCURENCE=1(large_intestine),1(lung)	-	OR4D11	NM_001004706,p.R54C|ENST00000313253,p.R54C|uc001noa.1,p.R54C	protein_coding	uc001noa.1	nonsynonymous SNV	exon1	c.C160T	p.R54C	NLLIMVTVTCESRLHTPMYFLLRNL	NLLIMVTVTCESCLHTPMYFLLRNL	1.0	6.0	unscreened	-	3881_11:59271208-59271208 C>T_NLLIMVTVTCESCLHTPMYFLLRNL
17:7324908-7324908 C>T	0.0	3881	MELANOMA	-	-	-	-	SPEM1	NM_199339,p.S305F|uc002ggv.3,p.S305F|ENST00000323675,p.S305F	protein_coding	uc002ggv.3	nonsynonymous SNV	exon3	c.C914T	p.S305F	TAEETSKNWVYRSLTGR	TAEETSKNWVYRFLTGR	1.0	3.0	unscreened	-	3881_17:7324908-7324908 C>T_TAEETSKNWVYRFLTGR
7:81392036-81392036 G>A	0.0	3881	MELANOMA	-	-	-	-	HGF	ENST00000453411,p.P81S|ENST00000423064,p.P81S|uc003uhl.3,p.P81S|ENST00000222390,p.P81S|NM_001010934,p.P81S|ENST00000444829,p.P81S|uc003uhm.3,p.P81S|NM_001010931,p.P81S|ENST00000421558,p.P81S|uc003uhn.1,p.P81S|ENST00000354224,p.P81S|NM_000601,p.P81S|uc022agw.1,p.P81S|NM_001010932,p.P81S|NM_001010933,p.P81S|uc003uhp.3,p.P81S|uc003uho.1,p.P81S|ENST00000412881,p.P81S|ENST00000457544,p.P81S	retained_intron, protein_coding	uc022agw.1	nonsynonymous SNV	exon2	c.C241T	p.P81S	QCANRCTRNKGLPFTCKAFVFDKAR	QCANRCTRNKGLSFTCKAFVFDKAR	5.0	9.0	unscreened	-	3881_7:81392036-81392036 G>A_QCANRCTRNKGLSFTCKAFVFDKAR
10:95993959-95993959 G>A	0.0	3881	MELANOMA	-	-	-	-	PLCE1	uc001kjm.3,p.V394M|NM_001165979,p.V394M|uc001kjk.3,p.V702M|ENST00000371375,p.V394M|ENST00000371385,p.V394M|NM_016341,p.V702M|NM_001288989,p.V702M|uc010qnx.2,p.V702M|ENST00000371380,p.V702M|ENST00000260766,p.V702M	protein_coding, processed_transcript	uc010qnx.2	nonsynonymous SNV	exon5	c.G2104A	p.V702M	VVTRALHIPGCKVVPFCGVFLKELC	VVTRALHIPGCKMVPFCGVFLKELC	3.0	1.0	unscreened	-	3881_10:95993959-95993959 G>A_VVTRALHIPGCKMVPFCGVFLKELC
21:45949726-45949726 G>A	0.0	3881	MELANOMA	-	-	-	-	TSPEAR	ENST00000397916,p.L181F|NM_001272037,p.L181F|uc002zfe.1,p.L249F|NM_144991,p.L249F|uc010gpv.1,p.L181F|ENST00000323084,p.L249F	protein_coding	uc010gpv.1	nonsynonymous SNV	exon6	c.C541T	p.L181F	LAVLSIPRVLQALTGKPEDNEVLKY	LAVLSIPRVLQAFTGKPEDNEVLKY	1.0	4.0	unscreened	-	3881_21:45949726-45949726 G>A_LAVLSIPRVLQAFTGKPEDNEVLKY
2:207172439-207172439 G>A	1.0	3881	MELANOMA	-	-	ID=COSM227710;OCCURENCE=1(NS)	-	ZDBF2	NM_001285549,p.E1061K|uc002vbp.2,p.E1063K|ENST00000374423,p.E1063K|uc031rqy.1,p.E1061K|NM_020923,p.E1063K	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.G3181A	p.E1061K	SMTDQPQLAFLKEKHVNLKDKNSKS	SMTDQPQLAFLKKKHVNLKDKNSKS	6.0	9.0	-	-	3881_2:207172439-207172439 G>A_SMTDQPQLAFLKKKHVNLKDKNSKS
20:45354019-45354019 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC2A10	ENST00000359271,p.S115F|NM_030777,p.S115F|uc002xsl.3,p.S115F	protein_coding, processed_transcript	uc002xsl.3	nonsynonymous SNV	exon2	c.C344T	p.S115F	LGRAVVGFAISLSSMACCIYVSELV	LGRAVVGFAISLFSMACCIYVSELV	3.0	7.0	unscreened	-	3881_20:45354019-45354019 C>T_LGRAVVGFAISLFSMACCIYVSELV
13:113999193-113999193 C>T	0.0	3881	MELANOMA	-	-	-	-	GRTP1	uc001vtn.3,p.G183R|ENST00000375431,p.G183R|ENST00000375430,p.G183R|uc010tkc.2,p.G183R|ENST00000326039,p.G105R|NM_024719,p.G183R|uc010tkb.2,p.G105R|NM_001286732,p.G183R	protein_coding, processed_transcript	uc010tkc.2	nonsynonymous SNV	exon5	c.G547A	p.G183R	EEESFWLLDALVGRILPDYYSPAML	EEESFWLLDALVRRILPDYYSPAML	1.0	4.0	unscreened	-	3881_13:113999193-113999193 C>T_EEESFWLLDALVRRILPDYYSPAML
8:24359060-24359060 C>T	0.0	3881	MELANOMA	-	-	-	-	ADAM7	ENST00000175238,p.P727S|uc003xeb.3,p.P727S|NM_003817,p.P727S	protein_coding	uc003xeb.3	nonsynonymous SNV	exon20	c.C2179T	p.P727S	GYFGDEQQIRTEPILPEIHFLNKPA	GYFGDEQQIRTESILPEIHFLNKPA	1.0	8.0	unscreened	-	3881_8:24359060-24359060 C>T_GYFGDEQQIRTESILPEIHFLNKPA
3:127642421-127642421 G>A	0.0	3881	MELANOMA	-	-	-	-	KBTBD12	uc010hsr.3,p.E173K|NM_207335,p.E173K|ENST00000405256,p.E173K|ENST00000405109,p.E173K|uc003ejz.2,p.E173K	retained_intron, protein_coding, processed_transcript	uc010hsr.3	nonsynonymous SNV	exon1	c.G517A	p.E173K	AEVSLHEEILEIEVHQFLTLIKSDD	AEVSLHEEILEIKVHQFLTLIKSDD	1.0	10.0	unscreened	-	3881_3:127642421-127642421 G>A_AEVSLHEEILEIKVHQFLTLIKSDD
8:108334214-108334214 C>T	1.0	3881	MELANOMA	-	-	-	-	ANGPT1	uc011lhv.2,p.A40T|uc003ymo.3,p.A240T|ENST00000520734,p.A40T|NM_001146,p.A240T|uc003ymp.4,p.A40T|ENST00000520052,p.A40T|ENST00000297450,p.A240T|ENST00000517746,p.A240T|uc003ymn.3,p.A240T|NM_001199859,p.A240T	retained_intron, protein_coding, processed_transcript	uc011lhv.2	nonsynonymous SNV	exon3	c.G118A	p.A40T	YIIQELEKQLNRATTNNSVLQKQQL	YIIQELEKQLNRTTTNNSVLQKQQL	5.0	6.0	unscreened	-	3881_8:108334214-108334214 C>T_YIIQELEKQLNRTTTNNSVLQKQQL
10:133978225-133978225 G>A	0.0	3881	MELANOMA	-	-	-	-	JAKMIP3	uc001lkx.4,p.E824K|ENST00000298622,p.E824K|NM_001105521,p.E824K	protein_coding, processed_transcript	uc001lkx.4	nonsynonymous SNV	exon20	c.G2470A	p.E824K	EERIEAQKRQIKELEEKFLFLFLFF	EERIEAQKRQIKKLEEKFLFLFLFF	1.0	1.0	unscreened	-	3881_10:133978225-133978225 G>A_EERIEAQKRQIKKLEEKFLFLFLFF
1:40236336-40236336 G>A	0.0	3881	MELANOMA	-	-	-	-	OXCT2	ENST00000327582,p.L198F|NM_022120,p.L198F|uc001ceb.1,p.L198F	protein_coding	uc001ceb.1	nonsynonymous SNV	exon1	c.C592T	p.L198F	PREVREFNGDHFLLERAIRADFALV	PREVREFNGDHFFLERAIRADFALV	3.0	9.0	unscreened	-	3881_1:40236336-40236336 G>A_PREVREFNGDHFFLERAIRADFALV
3:38768417-38768417 G>A	0.0	3881	MELANOMA	-	-	ID=COSM730957;OCCURENCE=1(lung)	-	SCN10A	NM_001293306,p.R923C|NM_001293307,p.R825C|NM_006514,p.R923C|uc003ciq.3,p.R923C|ENST00000449082,p.R923C	protein_coding	uc003ciq.3	nonsynonymous SNV	exon16	c.C2767T	p.R923C	QVALARIQVFGHRTKQALCSFFSRS	QVALARIQVFGHCTKQALCSFFSRS	1.0	10.0	unscreened	-	3881_3:38768417-38768417 G>A_QVALARIQVFGHCTKQALCSFFSRS
6:27107352-27107352 T>G	0.0	3881	MELANOMA	-	-	-	1	HIST1H4I	NM_003495,p.Y89D|uc003niy.1,p.Y89D|ENST00000354348,p.Y89D	protein_coding	uc003niy.1	nonsynonymous SNV	exon1	c.T265G	p.Y89D	AKRKTVTAMDVVYALKRQGRTLYGF	AKRKTVTAMDVVDALKRQGRTLYGF	2.0	1.0	unscreened	-	3881_6:27107352-27107352 T>G_AKRKTVTAMDVVDALKRQGRTLYGF
10:55582430-55582430 C>T	0.0	3881	MELANOMA	-	-	-	-	PCDH15	NM_001142766,p.E1683K|uc021pqy.1,p.E1688K|uc010qhx.1,p.E1617K|NM_001142767,p.E1646K|uc021pqz.1,p.E1663K|NM_001142768,p.E1666K|ENST00000320301,p.E1686K|NM_001142763,p.E1693K|ENST00000395430,p.E1683K|uc010qhw.1,p.E1646K|ENST00000395432,p.E1646K|ENST00000361849,p.E1688K|uc001jju.1,p.E1686K|NM_001142765,p.E1617K|NM_001142773,p.E1663K|ENST00000395433,p.E1663K|uc010qhv.1,p.E1683K|uc010qia.1,p.E1666K|uc010qhy.1,p.E1693K|ENST00000437009,p.E1617K|NM_001142764,p.E1688K|uc010qhz.1,p.E1688K|uc010qib.1,p.E1663K|NM_033056,p.E1686K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon31	c.G4987A	p.E1663K	LPTVSRTVELKSEPNVISSPAECSL	LPTVSRTVELKSKPNVISSPAECSL	1.0	1.0	unscreened	-	3881_10:55582430-55582430 C>T_LPTVSRTVELKSKPNVISSPAECSL
19:56320693-56320693 G>A	0.0	3881	MELANOMA	-	-	-	-	NLRP11	uc010ygf.2,p.S428F|NM_001297743,p.S329F|ENST00000593244,p.S428F|ENST00000589093,p.S428F|ENST00000360133,p.S428F|ENST00000443188,p.S428F|ENST00000589824,p.S428F|NM_145007,p.S428F|ENST00000592953,p.S329F|ENST00000590409,p.S329F|uc002qlz.3,p.S329F|uc002qmb.3,p.S329F	protein_coding, nonsense_mediated_decay	uc010ygf.2	nonsynonymous SNV	exon5	c.C1283T	p.S428F	DLRCVGFTEADVSVLQAANILLPSN	DLRCVGFTEADVFVLQAANILLPSN	1.0	8.0	unscreened	-	3881_19:56320693-56320693 G>A_DLRCVGFTEADVFVLQAANILLPSN
1:158323824-158323824 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1718360;OCCURENCE=2(NS)	-	CD1E	NM_001185108,p.E16K|uc001fsk.3,p.E16K|NM_001185107,p.E16K|NM_001185115,p.E16K|uc001fsd.3,p.E16K|NM_001042584,p.E16K|NM_030893,p.E16K|NM_001042585,p.E16K|ENST00000368156,p.E16K|ENST00000368161,p.E16K|uc001fsj.3,p.E16K|uc001frz.3,p.E16K|NM_001042583,p.E16K|uc001fry.3,p.E16K|ENST00000368167,p.E16K|uc001fse.3,p.E16K|ENST00000368165,p.E16K|ENST00000368160,p.E16K|ENST00000368155,p.E16K|ENST00000368163,p.E16K|uc001fsf.3,p.E16K	protein_coding, processed_transcript	uc001fsk.3	nonsynonymous SNV	exon1	c.G46A	p.E16K	LFLLFEGLCCPGENTAAPQALQSYH	LFLLFEGLCCPGKNTAAPQALQSYH	5.0	1.0	unscreened	-	3881_1:158323824-158323824 G>A_LFLLFEGLCCPGKNTAAPQALQSYH
10:96798734-96798734 G>A	0.0	3881	MELANOMA	-	-	-	2	CYP2C8	NM_001198855,p.P334L|NM_000770,p.P404L|uc021pwl.1,p.P334L|NM_001198854,p.P302L|NM_001198853,p.P334L|uc010qoa.2,p.P334L|uc010qob.2,p.P318L|uc010qoc.2,p.P302L|ENST00000371270,p.P404L|ENST00000535898,p.P302L|uc001kkb.3,p.P404L	retained_intron, protein_coding, nonsense_mediated_decay	uc021pwl.1	nonsynonymous SNV	exon9	c.C1001T	p.P334L	TSVLHDDKEFPNPNIFDPGHFLDKN	TSVLHDDKEFPNLNIFDPGHFLDKN	1.0	10.0	unscreened	-	3881_10:96798734-96798734 G>A_TSVLHDDKEFPNLNIFDPGHFLDKN
5:15936759-15936759 G>A	0.0	3881	MELANOMA	-	-	-	-	FBXL7	NM_012304,p.E314K|ENST00000504595,p.E314K|NM_001278317,p.E267K|ENST00000510662,p.E267K|ENST00000329673,p.E302K|uc003jfn.1,p.E314K	protein_coding	uc003jfn.1	nonsynonymous SNV	exon4	c.G940A	p.E314K	HLYLRRCVRLTDEGLRYLVIYCASI	HLYLRRCVRLTDKGLRYLVIYCASI	4.0	4.0	unscreened	-	3881_5:15936759-15936759 G>A_HLYLRRCVRLTDKGLRYLVIYCASI
19:9064500-9064500 G>A	0.0	3881	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.T7649I|NM_024690,p.T7649I|ENST00000397910,p.T7649I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C22946T	p.T7649I	NLNTATTPSWVETHSIVIQGFPHPE	NLNTATTPSWVEIHSIVIQGFPHPE	1.0	7.0	unscreened	-	3881_19:9064500-9064500 G>A_NLNTATTPSWVEIHSIVIQGFPHPE
2:138414689-138414689 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1305664,COSM1305663;OCCURENCE=1(urinary_tract)	-	THSD7B	ENST00000543459,p.E280K	retained_intron, protein_coding, processed_transcript	ENST00000543459	nonsynonymous SNV	exon4	c.G838A	p.E280K	KECQQVFGTITNELYGASVQMALMS	KECQQVFGTITNKLYGASVQMALMS	1.0	3.0	unscreened	-	3881_2:138414689-138414689 G>A_KECQQVFGTITNKLYGASVQMALMS
6:36976690-36976690 G>A	0.0	3881	MELANOMA	-	-	-	-	FGD2	ENST00000274963,p.G50E|uc003onf.3,p.G50E|NM_173558,p.G50E|uc010jwp.1,p.G50E|ENST00000373535,p.G50E|uc011dtu.1,p.G50E|ENST00000497659,p.G50E	retained_intron, protein_coding, nonsense_mediated_decay	uc011dtu.1	nonsynonymous SNV	exon2	c.G149A	p.G50E	HHRPECRPPESPGPREKTNVGEAVG	HHRPECRPPESPEPREKTNVGEAVG	7.0	1.0	unscreened	-	3881_6:36976690-36976690 G>A_HHRPECRPPESPEPREKTNVGEAVG
X:152835157-152835157 C>T	0.0	3881	MELANOMA	-	-	-	1	ATP2B3	NM_021949,p.L1147F|ENST00000370181,p.L1133F|uc010nuf.1,p.L170F|ENST00000370186,p.L1133F|uc004fhs.1,p.L1147F|ENST00000393842,p.L1133F|ENST00000359149,p.L1147F	protein_coding, processed_transcript	uc010nuf.1	nonsynonymous SNV	exon4	c.C508T	p.L170F	SSVLSQLHDVTNLSTPTHAILSAAN	SSVLSQLHDVTNFSTPTHAILSAAN	1.0	5.0	unscreened	-	3881_X:152835157-152835157 C>T_SSVLSQLHDVTNFSTPTHAILSAAN
5:79355304-79355304 C>G	0.0	3881	MELANOMA	-	-	-	-	THBS4	ENST00000350881,p.C258W|NM_003248,p.C258W|uc021yaw.1,p.C258W|ENST00000511733,p.C167W	protein_coding, processed_transcript	uc021yaw.1	nonsynonymous SNV	exon6	c.C774G	p.C258W	KETSFLRNTIAECQACGPLKFQSPT	KETSFLRNTIAEWQACGPLKFQSPT	5.0	7.0	unscreened	-	3881_5:79355304-79355304 C>G_KETSFLRNTIAEWQACGPLKFQSPT
1:248436372-248436372 A>C	0.0	3881	MELANOMA	-	-	-	-	OR2T33	uc010pzi.2,p.F249V|ENST00000318021,p.F249V|NM_001004695,p.F249V	protein_coding	uc010pzi.2	nonsynonymous SNV	exon1	c.T745G	p.F249V	ATCSSHVAVVGLFYGAAIFTYMRPK	ATCSSHVAVVGLVYGAAIFTYMRPK	1.0	2.0	unscreened	-	3881_1:248436372-248436372 A>C_ATCSSHVAVVGLVYGAAIFTYMRPK
8:25360933-25360933 T>G	1.0	3881	MELANOMA	-	-	-	-	CDCA2	ENST00000380665,p.S557R|ENST00000330560,p.S572R|uc003xer.1,p.S235R|uc011lae.1,p.S572R|NM_152562,p.S572R|uc003xep.1,p.S572R|uc003xeq.1,p.S557R	protein_coding, processed_transcript	uc011lae.1	nonsynonymous SNV	exon14	c.T1716G	p.S572R	KSCRKKKGKGKKSVQKSLYGERDIA	KSCRKKKGKGKKRVQKSLYGERDIA	5.0	2.0	unscreened	-	3881_8:25360933-25360933 T>G_KSCRKKKGKGKKRVQKSLYGERDIA
19:54849254-54849254 G>A	0.0	3881	MELANOMA	-	-	-	-	LILRA4	uc002qfi.3,p.P137L|NM_012276,p.P203L|uc002qfj.3,p.P203L|ENST00000291759,p.P203L	retained_intron, protein_coding, non_stop_decay	uc002qfj.3	nonsynonymous SNV	exon4	c.C608T	p.P203L	GTFRCYGYENNTPYVWSEPSDPLQL	GTFRCYGYENNTLYVWSEPSDPLQL	3.0	3.0	unscreened	-	3881_19:54849254-54849254 G>A_GTFRCYGYENNTLYVWSEPSDPLQL
3:150400058-150400058 C>T	0.0	3881	MELANOMA	-	-	-	-	ERICH6	NM_152394,p.D277N|uc003eyg.3,p.D277N|ENST00000295910,p.D277N|ENST00000491361,p.D131N|uc003eyh.3,p.D131N	retained_intron, protein_coding	uc003eyh.3	nonsynonymous SNV	exon7	c.G391A	p.D131N	EETSPKCEFCGSDLRAFFSNVDVSS	EETSPKCEFCGSNLRAFFSNVDVSS	3.0	9.0	unscreened	-	3881_3:150400058-150400058 C>T_EETSPKCEFCGSNLRAFFSNVDVSS
8:102570891-102570891 G>A	0.0	3881	MELANOMA	-	-	-	-	GRHL2	ENST00000251808,p.G177R|NM_024915,p.G177R|ENST00000395927,p.G161R|uc010mbu.3,p.G177R|uc011lhi.1,p.G177R	retained_intron, protein_coding, processed_transcript	uc011lhi.1	nonsynonymous SNV	exon4	c.G529A	p.G177R	PVFMAPPVHYPRGDGEEQRVVIFEQ	PVFMAPPVHYPRRDGEEQRVVIFEQ	1.0	7.0	unscreened	-	3881_8:102570891-102570891 G>A_PVFMAPPVHYPRRDGEEQRVVIFEQ
17:42985308-42985308 C>T	0.0	3881	MELANOMA	-	-	-	-	GFAP	ENST00000591880,p.G83R|uc021tyg.1,p.G102R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tyg.1	nonsynonymous SNV	exon1	c.G304A	p.G102R	IEGSQQLPVAPQGILEESKETECNS	IEGSQQLPVAPQRILEESKETECNS	1.0	5.0	unscreened	-	3881_17:42985308-42985308 C>T_IEGSQQLPVAPQRILEESKETECNS
1:44595530-44595530 T>G	0.0	3881	MELANOMA	-	-	-	-	KLF17	uc001clp.3,p.V196G|ENST00000372299,p.V196G|uc009vxf.1,p.V159G|NM_173484,p.V196G	protein_coding, processed_transcript	uc009vxf.1	nonsynonymous SNV	exon3	c.T476G	p.V159G	TVPSDETLLGPTVPSTEAQAVLPSM	TVPSDETLLGPTGPSTEAQAVLPSM	1.0	9.0	unscreened	-	3881_1:44595530-44595530 T>G_TVPSDETLLGPTGPSTEAQAVLPSM
9:139656672-139656672 G>A	0.0	3881	MELANOMA	-	-	-	-	LCN15	ENST00000316144,p.P163L|uc004cjd.3,p.P163L|NM_203347,p.P163L	protein_coding, processed_transcript	uc004cjd.3	nonsynonymous SNV	exon5	c.C488T	p.P163L	KSFQDFYPTLGLPKDMMVMLPQSDA	KSFQDFYPTLGLLKDMMVMLPQSDA	1.0	10.0	unscreened	-	3881_9:139656672-139656672 G>A_KSFQDFYPTLGLLKDMMVMLPQSDA
X:17744453-17744453 C>T	0.0	3881	MELANOMA	-	-	-	-	NHS	NM_001291868,p.P545S|uc004cxx.3,p.P722S|uc004cxz.3,p.P545S|uc011mix.2,p.P743S|uc004cxy.3,p.P566S|uc004cya.3,p.P445S|NM_198270,p.P722S|NM_001136024,p.P566S|NM_001291867,p.P743S|ENST00000380060,p.P722S|ENST00000398097,p.P566S	protein_coding, processed_transcript	uc011mix.2	nonsynonymous SNV	exon7	c.C2227T	p.P743S	DASCRQDFSPERPKADSLGCPSFTS	DASCRQDFSPERSKADSLGCPSFTS	3.0	10.0	unscreened	-	3881_X:17744453-17744453 C>T_DASCRQDFSPERSKADSLGCPSFTS
10:61832664-61832664 A>G	0.0	3881	MELANOMA	-	-	-	-	ANK3	uc001jky.3,p.F2659L|NM_020987,p.F2659L|ENST00000280772,p.F2659L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.T7975C	p.F2659L	VKARQHGPDGQGFPKAEEKAPSLPS	VKARQHGPDGQGLPKAEEKAPSLPS	3.0	1.0	unscreened	-	3881_10:61832664-61832664 A>G_VKARQHGPDGQGLPKAEEKAPSLPS
14:20586392-20586392 C>T	0.0	3881	MELANOMA	-	-	-	-	OR4K17	ENST00000315543,p.T276I|uc001vwo.1,p.T276I|NM_001004715,p.T276I	protein_coding	uc001vwo.1	nonsynonymous SNV	exon1	c.C827T	p.T276I	QSKARSTLTAHITVVILFFGPCIFI	QSKARSTLTAHIIVVILFFGPCIFI	1.0	3.0	unscreened	-	3881_14:20586392-20586392 C>T_QSKARSTLTAHIIVVILFFGPCIFI
11:15170682-15170682 G>A	0.0	3881	MELANOMA	0.0023	-	-	-	INSC	uc001mly.4,p.D35N|ENST00000379554,p.D35N|NM_001031853,p.D35N	protein_coding, processed_transcript	uc001mly.4	nonsynonymous SNV	exon2	c.G103A	p.D35N	VQESRRLCCAGHDRCKQALLQIGIN	VQESRRLCCAGHNRCKQALLQIGIN	1.0	7.0	unscreened	-	3881_11:15170682-15170682 G>A_VQESRRLCCAGHNRCKQALLQIGIN
2:27480918-27480918 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC30A3	NM_003459,p.G145R|uc010ylh.2,p.G140R|ENST00000450118,p.G96R|ENST00000426924,p.G132R|ENST00000432351,p.G96R|ENST00000424577,p.G123R|ENST00000233535,p.G145R|ENST00000447008,p.G140R|uc002rjk.3,p.G145R	retained_intron, protein_coding	uc010ylh.2	nonsynonymous SNV	exon5	c.G418A	p.G140R	TMTFGWHRSETLGALASVVSLWMVT	TMTFGWHRSETLRALASVVSLWMVT	3.0	3.0	unscreened	-	3881_2:27480918-27480918 C>T_TMTFGWHRSETLRALASVVSLWMVT
2:174228060-174228060 C>T	0.0	3881	MELANOMA	-	-	-	-	CDCA7	uc010zej.1,p.T120I|ENST00000347703,p.T85I|ENST00000392567,p.T85I|NM_145810,p.T85I|ENST00000306721,p.T164I|uc010zek.1,p.T43I|ENST00000410019,p.T43I|ENST00000410101,p.T120I|NM_031942,p.T164I|uc002uid.1,p.T85I|uc002uic.1,p.T164I	retained_intron, protein_coding, nonsense_mediated_decay	uc010zek.1	nonsynonymous SNV	exon2	c.C128T	p.T43I	AMKFPARSTRGATNKKAESRQPSEN	AMKFPARSTRGAINKKAESRQPSEN	5.0	4.0	unscreened	-	3881_2:174228060-174228060 C>T_AMKFPARSTRGAINKKAESRQPSEN
12:6127766-6127766 C>T	0.0	3881	MELANOMA	-	-	-	-	VWF	uc001qnn.1,p.M1606I|NM_000552,p.M1606I|ENST00000261405,p.M1606I	protein_coding, processed_transcript, nonsense_mediated_decay	uc001qnn.1	nonsynonymous SNV	exon28	c.G4818A	p.M1606I	QGDREQAPNLVYMVTGNPASDEIKR	QGDREQAPNLVYIVTGNPASDEIKR	6.0	8.0	unscreened	-	3881_12:6127766-6127766 C>T_QGDREQAPNLVYIVTGNPASDEIKR
1:222920400-222920400 G>A	0.0	3881	MELANOMA	-	-	-	-	FAM177B	ENST00000391880,p.R73Q	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000391880	nonsynonymous SNV	exon4	c.G218A	p.R73Q	LSWGPYLRFWAGRIASTSFSMLSLQ	LSWGPYLRFWAGQIASTSFSMLSLQ	1.0	10.0	unscreened	-	3881_1:222920400-222920400 G>A_LSWGPYLRFWAGQIASTSFSMLSLQ
1:181702637-181702637 C>T	0.0	3881	MELANOMA	-	-	-	-	CACNA1E	uc001gow.3,p.P1005S|NM_000721,p.P1005S|ENST00000358338,p.P937S|ENST00000526775,p.P986S|ENST00000360108,p.P986S|ENST00000367573,p.P1005S|ENST00000367570,p.P1005S|uc001gox.1,p.P231S|uc009wxs.3,p.P986S|ENST00000357570,p.P956S|NM_001205294,p.P986S|ENST00000367567,p.P612S|NM_001205293,p.P1005S|uc009wxt.3,p.P1005S	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon21	c.C3013T	p.P1005S	SGLAGGLDEADTPLVLPHPELEVGK	SGLAGGLDEADTSLVLPHPELEVGK	2.0	10.0	unscreened	-	3881_1:181702637-181702637 C>T_SGLAGGLDEADTSLVLPHPELEVGK
3:52555946-52555946 G>A	0.0	3881	MELANOMA	-	-	-	-	STAB1	NM_015136,p.G2084R|uc003dek.1,p.G99R|uc003dej.3,p.G2084R|ENST00000321725,p.G2084R	retained_intron, protein_coding	uc003dek.1	nonsynonymous SNV	exon8	c.G295A	p.G99R	AGNSCECSLGYEGDGRVCTVADLCQ	AGNSCECSLGYERDGRVCTVADLCQ	6.0	9.0	unscreened	-	3881_3:52555946-52555946 G>A_AGNSCECSLGYERDGRVCTVADLCQ
16:74425433-74425433 C>T	0.0	3881	MELANOMA	-	-	-	-	LOC283922,CLEC18B	ENST00000429990,p.L263F|uc010vmt.1,p.L202F	protein_coding	uc010vmt.1	nonsynonymous SNV	exon6	c.C604T	p.L202F	TQQHSITDNSLSLKTPPECLLHPLP	TQQHSITDNSLSFKTPPECLLHPLP	2.0	1.0	unscreened	-	3881_16:74425433-74425433 C>T_TQQHSITDNSLSFKTPPECLLHPLP
10:85984380-85984380 G>A	0.0	3881	MELANOMA	-	-	-	-	LRIT2	ENST00000538192,p.P201S|NM_001017924,p.P201S|uc010qmc.2,p.P201S|ENST00000372113,p.P201S|uc001kcy.3,p.P201S|NM_001284223,p.P201S	protein_coding	uc010qmc.2	nonsynonymous SNV	exon2	c.C601T	p.P201S	ILSSLVVALHDNPWVCDCRLRGLVQ	ILSSLVVALHDNSWVCDCRLRGLVQ	1.0	8.0	unscreened	-	3881_10:85984380-85984380 G>A_ILSSLVVALHDNSWVCDCRLRGLVQ
1:177245342-177245342 G>A	0.0	3881	MELANOMA	-	-	-	-	BRINP2	uc001glg.3,p.V157M|uc001glf.3,p.V262M|ENST00000361539,p.V262M|NM_021165,p.V262M	protein_coding, processed_transcript	uc001glg.3	nonsynonymous SNV	exon3	c.G469A	p.V157M	SPENKVQLLGLQVLLPEYLRERFVA	SPENKVQLLGLQMLLPEYLRERFVA	1.0	1.0	unscreened	-	3881_1:177245342-177245342 G>A_SPENKVQLLGLQMLLPEYLRERFVA
3:121980537-121980537 G>A	0.0	3881	MELANOMA	-	-	-	-	CASR	NM_001178065,p.G219R|ENST00000490131,p.G219R|ENST00000498619,p.G219R|ENST00000296154,p.G219R|uc003eew.4,p.G219R|uc003eev.4,p.G219R|NM_000388,p.G219R	retained_intron, protein_coding	uc003eew.4	nonsynonymous SNV	exon4	c.G655A	p.G219R	NWVGTIAADDDYGRPGIEKFREEAE	NWVGTIAADDDYRRPGIEKFREEAE	1.0	9.0	unscreened	-	3881_3:121980537-121980537 G>A_NWVGTIAADDDYRRPGIEKFREEAE
16:31228127-31228127 C>T	0.0	3881	MELANOMA	-	-	-	-	PYDC1	NM_152901,p.D75N|uc021tgv.1,p.D75N|uc002ebo.3,p.D75N|ENST00000302964,p.D75N	protein_coding, processed_transcript	uc021tgv.1	nonsynonymous SNV	exon1	c.G223A	p.D75N	DYAAELVVAVLRDMRMLEEAARLQR	DYAAELVVAVLRNMRMLEEAARLQR	1.0	7.0	unscreened	-	3881_16:31228127-31228127 C>T_DYAAELVVAVLRNMRMLEEAARLQR
11:18955550-18955550 G>A	0.0	3881	MELANOMA	-	-	-	-	MRGPRX1	uc001mpg.3,p.S261F|ENST00000302797,p.S261F|NM_147199,p.S261F	protein_coding, processed_transcript	uc001mpg.3	nonsynonymous SNV	exon1	c.C782T	p.S261F	LFCHVHLVSIFLSALNSSANPIIYF	LFCHVHLVSIFLFALNSSANPIIYF	1.0	1.0	unscreened	-	3881_11:18955550-18955550 G>A_LFCHVHLVSIFLFALNSSANPIIYF
5:140750334-140750334 G>A	1.0	3881	MELANOMA	-	-	-	-	PCDHGB3	uc011dat.2,p.D125N|ENST00000576222,p.D125N|uc003ljw.2,p.D125N|NM_032097,p.D125N|NM_018924,p.D125N	protein_coding	uc011dat.2	nonsynonymous SNV	exon1	c.G373A	p.D125N	PLNFFHVTVLIQDINDNPPTFSQNI	PLNFFHVTVLIQNINDNPPTFSQNI	6.0	8.0	unscreened	-	3881_5:140750334-140750334 G>A_PLNFFHVTVLIQNINDNPPTFSQNI
4:3030966-3030966 C>T	0.0	3881	MELANOMA	-	-	-	-	GRK4	ENST00000504933,p.P367S|uc003ggp.1,p.P335S|NM_005307,p.P335S|NM_001004057,p.P367S|NM_182982,p.P367S|NM_001004056,p.P335S|uc003ggq.1,p.P335S|uc003ggo.1,p.P367S|ENST00000345167,p.P335S|uc003ggn.1,p.P367S|ENST00000398052,p.P367S|ENST00000398051,p.P335S	retained_intron, protein_coding, processed_transcript	uc003ggq.1	nonsynonymous SNV	exon11	c.C1003T	p.P335S	PEVVNNEKYTFSPDWWGLGCLIYEM	PEVVNNEKYTFSSDWWGLGCLIYEM	5.0	1.0	unscreened	-	3881_4:3030966-3030966 C>T_PEVVNNEKYTFSSDWWGLGCLIYEM
11:46722682-46722682 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF408	uc010rgw.2,p.L7F|NM_001184751,p.L7F	retained_intron, protein_coding	uc010rgw.2	nonsynonymous SNV	exon1	c.C19T	p.L7F	MSATLNLGPAREPRLGLDL	MSATLNFGPAREPRLGLDL	6.0	9.0	unscreened	-	3881_11:46722682-46722682 C>T_MSATLNFGPAREPRLGLDL
4:100340163-100340163 C>A	0.0	3881	MELANOMA	-	-	-	-	ADH7	ENST00000209665,p.W326L|ENST00000482593,p.W257L|ENST00000476959,p.W334L|uc003huv.2,p.W326L|NM_000673,p.W326L|ENST00000437033,p.W314L|uc021xqj.1,p.W334L|NM_001166504,p.W334L	retained_intron, protein_coding	uc021xqj.1	nonsynonymous SNV	exon7	c.G1001T	p.W334L	TYDPMLLFTGRTWKGCVFGGLKSRD	TYDPMLLFTGRTLKGCVFGGLKSRD	1.0	8.0	unscreened	-	3881_4:100340163-100340163 C>A_TYDPMLLFTGRTLKGCVFGGLKSRD
6:34100930-34100930 G>A	0.0	3881	MELANOMA	-	-	-	-	GRM4	uc010jvh.4,p.A115V|uc010jvk.1,p.A34V|uc011dsn.3,p.A115V|ENST00000374181,p.A115V|NM_000841,p.A115V|NM_001256811,p.A115V|ENST00000538487,p.A115V	protein_coding	uc011dsn.3	nonsynonymous SNV	exon2	c.C344T	p.A115V	ARILDTCSRDTHALEQSLTFVQALI	ARILDTCSRDTHVLEQSLTFVQALI	1.0	9.0	unscreened	-	3881_6:34100930-34100930 G>A_ARILDTCSRDTHVLEQSLTFVQALI
9:8500886-8500886 G>A	0.0	3881	MELANOMA	-	-	-	-	PTPRD	NM_002839,p.P666S|ENST00000381196,p.P666S|ENST00000358503,p.P653S|ENST00000360074,p.P653S|ENST00000356435,p.P666S|uc003zkk.3,p.P666S|ENST00000540109,p.P666S	retained_intron, protein_coding, processed_transcript	uc003zkk.3	nonsynonymous SNV	exon24	c.C1996T	p.P666S	GEDDKPHEILGIPSDTTKYLLEQLE	GEDDKPHEILGISSDTTKYLLEQLE	2.0	1.0	unscreened	-	3881_9:8500886-8500886 G>A_GEDDKPHEILGISSDTTKYLLEQLE
11:113264432-113264432 C>T	0.0	3881	MELANOMA	-	-	-	-	ANKK1	uc001pny.3,p.P139S|ENST00000303941,p.P139S|NM_178510,p.P139S	protein_coding, nonsense_mediated_decay	uc001pny.3	nonsynonymous SNV	exon2	c.C415T	p.P139S	TSLAMNFLHSIKPPLLHLDLKPGNI	TSLAMNFLHSIKSPLLHLDLKPGNI	1.0	2.0	unscreened	-	3881_11:113264432-113264432 C>T_TSLAMNFLHSIKSPLLHLDLKPGNI
1:10719882-10719882 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1470121;OCCURENCE=1(prostate)	-	CASZ1	uc001arp.2,p.A406V|NM_001079843,p.A406V|ENST00000377022,p.A406V|NM_017766,p.A406V|uc001aro.4,p.A406V|uc009vmx.2,p.A430V|uc001arq.1,p.A265V|ENST00000344008,p.A406V	retained_intron, protein_coding, processed_transcript	uc009vmx.2	nonsynonymous SNV	exon4	c.C1289T	p.A430V	SLAPAPLASVPSAPSAPGPGPEPPA	SLAPAPLASVPSVPSAPGPGPEPPA	5.0	6.0	unscreened	-	3881_1:10719882-10719882 G>A_SLAPAPLASVPSVPSAPGPGPEPPA
12:70004462-70004462 C>T	0.0	3881	MELANOMA	-	-	-	-	LRRC10	ENST00000361484,p.E53K|NM_201550,p.E53K|uc001svc.3,p.E53K	protein_coding	uc001svc.3	nonsynonymous SNV	exon1	c.G157A	p.E53K	LRRFPLHVCSFRELVKLYLSDNHLN	LRRFPLHVCSFRKLVKLYLSDNHLN	1.0	3.0	unscreened	-	3881_12:70004462-70004462 C>T_LRRFPLHVCSFRKLVKLYLSDNHLN
12:121434507-121434507 C>T	0.0	3881	MELANOMA	-	-	-	1	HNF1A	uc001tzf.3,p.P424L|uc021rfa.1,p.P424L|ENST00000257555,p.P424L|uc001tzg.3,p.P424L|uc010szn.2,p.P424L|uc001tze.2,p.P424L|ENST00000543427,p.P307L|uc021rex.1,p.P20L|ENST00000400024,p.P424L|ENST00000541395,p.P424L|ENST00000402929,p.P424L|uc021rfb.1,p.P296L|ENST00000544413,p.P424L|NM_000545,p.P424L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rfb.1	nonsynonymous SNV	exon5	c.C887T	p.P296L	MTIGPGEPASLGPTFTNTGASTLVI	MTIGPGEPASLGLTFTNTGASTLVI	1.0	6.0	unscreened	-	3881_12:121434507-121434507 C>T_MTIGPGEPASLGLTFTNTGASTLVI
4:70710047-70710047 C>T	0.0	3881	MELANOMA	-	-	ID=COSM734866;OCCURENCE=1(lung)	-	SULT1E1	uc003heo.3,p.E202K|NM_005420,p.E202K|ENST00000226444,p.E202K	retained_intron, protein_coding, nonsense_mediated_decay	uc003heo.3	nonsynonymous SNV	exon7	c.G604A	p.E202K	LFYEDLKEDIRKEVIKLIHFLERKP	LFYEDLKEDIRKKVIKLIHFLERKP	1.0	8.0	unscreened	-	3881_4:70710047-70710047 C>T_LFYEDLKEDIRKKVIKLIHFLERKP
2:138400076-138400076 G>A	0.0	3881	MELANOMA	-	-	-	-	THSD7B	ENST00000409968,p.R1273Q|ENST00000272643,p.R1276Q|ENST00000413152,p.R1245Q	retained_intron, protein_coding, processed_transcript	ENST00000413152	nonsynonymous SNV	exon21	c.G3734A	p.R1245Q	QTCGHGGRMSRTRFIIMPTQGEGRP	QTCGHGGRMSRTQFIIMPTQGEGRP	1.0	5.0	unscreened	-	3881_2:138400076-138400076 G>A_QTCGHGGRMSRTQFIIMPTQGEGRP
7:151945010-151945010 G>A	0.0	3881	MELANOMA	-	-	-	1	KMT2C	ENST00000355193,p.P837S|NM_170606,p.P837S|uc003wla.3,p.P837S|ENST00000262189,p.P837S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wla.3	nonsynonymous SNV	exon14	c.C2509T	p.P837S	MGKPAITKRKFSPGRPRSKQGAWST	MGKPAITKRKFSSGRPRSKQGAWST	8.0	1.0	unscreened	-	3881_7:151945010-151945010 G>A_MGKPAITKRKFSSGRPRSKQGAWST
10:82363461-82363461 G>A	0.0	3881	MELANOMA	-	-	ID=COSM920824;OCCURENCE=1(endometrium)	-	SH2D4B	ENST00000313455,p.R208Q|uc001kcl.1,p.R208Q|ENST00000470604,p.R256Q|uc001kck.1,p.R257Q|NM_001145719,p.R208Q|ENST00000339284,p.R257Q|NM_207372,p.R257Q	protein_coding, processed_transcript	uc001kcl.1	nonsynonymous SNV	exon5	c.G623A	p.R208Q	QKGTVAGLSSMFRELGQSHEQEARL	QKGTVAGLSSMFQELGQSHEQEARL	1.0	10.0	unscreened	-	3881_10:82363461-82363461 G>A_QKGTVAGLSSMFQELGQSHEQEARL
X:83411181-83411181 C>T	1.0	3881	MELANOMA	-	-	-	-	RPS6KA6	uc011mqt.2,p.E54K|uc004eej.2,p.E54K|ENST00000543399,p.E54K|NM_014496,p.E54K|ENST00000262752,p.E54K	protein_coding, processed_transcript	uc011mqt.2	nonsynonymous SNV	exon5	c.G160A	p.E54K	EADSCHDEGVVKEIPITHHVKEGYE	EADSCHDEGVVKKIPITHHVKEGYE	4.0	3.0	unscreened	-	3881_X:83411181-83411181 C>T_EADSCHDEGVVKKIPITHHVKEGYE
20:37536831-37536831 G>A	0.0	3881	MELANOMA	-	-	-	-	PPP1R16B	uc010ggc.3,p.D355N|NM_015568,p.D397N|uc002xje.3,p.D397N|ENST00000373331,p.D355N|ENST00000299824,p.D397N|NM_001172735,p.D355N	protein_coding, processed_transcript	uc010ggc.3	nonsynonymous SNV	exon9	c.G1063A	p.D355N	DIRETRTDQENKDPNPRLEKPVLLS	DIRETRTDQENKNPNPRLEKPVLLS	5.0	3.0	unscreened	-	3881_20:37536831-37536831 G>A_DIRETRTDQENKNPNPRLEKPVLLS
12:81851645-81851645 C>T	0.0	3881	MELANOMA	-	-	-	-	PPFIA2	ENST00000551442,p.E84K|NM_001220474,p.E84K|uc031qiq.1,p.E84K|ENST00000333447,p.E84K|uc031qin.1,p.E84K|ENST00000549325,p.E84K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiq.1	nonsynonymous SNV	exon3	c.G250A	p.E84K	SLQRQLNSALPQEFAALTKELNACR	SLQRQLNSALPQKFAALTKELNACR	3.0	7.0	unscreened	-	3881_12:81851645-81851645 C>T_SLQRQLNSALPQKFAALTKELNACR
1:175334157-175334157 G>A	0.0	3881	MELANOMA	-	-	-	-	TNR	NM_003285,p.S859F|ENST00000367674,p.S859F|uc009wwu.1,p.S859F|ENST00000263525,p.S859F|uc001gkp.1,p.S859F	protein_coding	uc009wwu.1	nonsynonymous SNV	exon12	c.C2576T	p.S859F	VHGTVTSEPIVGSITTGIDPPKDIT	VHGTVTSEPIVGFITTGIDPPKDIT	1.0	1.0	unscreened	-	3881_1:175334157-175334157 G>A_VHGTVTSEPIVGFITTGIDPPKDIT
1:222920400-222920400 G>A	0.0	3881	MELANOMA	-	-	-	-	FAM177B	uc001hnt.3,p.R73Q|ENST00000445590,p.R73Q|ENST00000434700,p.R73Q|ENST00000360827,p.R73Q|ENST00000456298,p.R73Q|NM_207468,p.R73Q	retained_intron, protein_coding, nonsense_mediated_decay	uc001hnt.3	nonsynonymous SNV	exon4	c.G218A	p.R73Q	LSWGPYLRFWAGRIASTSFSTCEFL	LSWGPYLRFWAGQIASTSFSTCEFL	1.0	10.0	unscreened	-	3881_1:222920400-222920400 G>A_LSWGPYLRFWAGQIASTSFSTCEFL
3:49866640-49866640 G>A	0.0	3881	MELANOMA	-	-	-	-	TRAIP	NM_005879,p.R436C|ENST00000331456,p.R436C|uc003cxs.1,p.R436C|uc010hla.1,p.R337C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hla.1	nonsynonymous SNV	exon12	c.C1009T	p.R337C	TKFIQPTDTVMIRPLPVKPKTKVKQ	TKFIQPTDTVMICPLPVKPKTKVKQ	6.0	7.0	unscreened	-	3881_3:49866640-49866640 G>A_TKFIQPTDTVMICPLPVKPKTKVKQ
2:26688690-26688690 G>A	0.0	3881	MELANOMA	-	-	-	-	OTOF	ENST00000272371,p.S1550F|uc002rhi.3,p.S860F|NM_001287489,p.S1550F|NM_004802,p.S783F|ENST00000338581,p.S783F|NM_194248,p.S1550F|uc002rhh.3,p.S783F|NM_194322,p.S860F|NM_194323,p.S783F|ENST00000402415,p.S860F|uc010yla.2,p.S280F|ENST00000403946,p.S1550F|uc002rhj.3,p.S783F|uc002rhk.3,p.S1550F|ENST00000339598,p.S783F	retained_intron, protein_coding	uc010yla.2	nonsynonymous SNV	exon11	c.C839T	p.S280F	NPVFGKSFDIEASFPMESMLTVAVY	NPVFGKSFDIEAFFPMESMLTVAVY	1.0	2.0	unscreened	-	3881_2:26688690-26688690 G>A_NPVFGKSFDIEAFFPMESMLTVAVY
14:21469299-21469299 G>A	0.0	3881	MELANOMA	0.0005	-	-	-	SLC39A2	ENST00000298681,p.R164Q|uc001vyr.3,p.R164Q|NM_014579,p.R164Q	retained_intron, protein_coding	uc001vyr.3	nonsynonymous SNV	exon4	c.G491A	p.R164Q	HGHLPSPSKGPLRALVLLLSLSFHS	HGHLPSPSKGPLQALVLLLSLSFHS	1.0	7.0	unscreened	-	3881_14:21469299-21469299 G>A_HGHLPSPSKGPLQALVLLLSLSFHS
12:53070903-53070903 A>C	0.0	3881	MELANOMA	-	-	-	-	KRT1	ENST00000252244,p.I398M|NM_006121,p.I398M|uc001sav.1,p.I398M|uc001sau.1,p.I398M	retained_intron, protein_coding	uc001sav.1	nonsynonymous SNV	exon6	c.T1194G	p.I398M	RHGDSVRNSKIEISELNRVIQRLRS	RHGDSVRNSKIEMSELNRVIQRLRS	1.0	8.0	unscreened	-	3881_12:53070903-53070903 A>C_RHGDSVRNSKIEMSELNRVIQRLRS
8:113484826-113484826 C>T	0.0	3881	MELANOMA	-	-	-	2	CSMD3	uc011lhx.2,p.E1693K|NM_198124,p.E1757K|ENST00000297405,p.E1797K|ENST00000343508,p.E1757K|uc003ynt.3,p.E1757K|uc003ynu.3,p.E1797K|NM_198123,p.E1797K|ENST00000455883,p.E1693K|NM_052900,p.E1693K	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon31	c.G5077A	p.E1693K	GHNCVYSIAVPKEFVVFGQFVFFQT	GHNCVYSIAVPKKFVVFGQFVFFQT	1.0	6.0	unscreened	-	3881_8:113484826-113484826 C>T_GHNCVYSIAVPKKFVVFGQFVFFQT
18:7007220-7007220 G>A	0.0	3881	MELANOMA	-	-	-	-	LAMA1	NM_005559,p.P1393L|uc002knm.3,p.P1393L|uc010wzj.2,p.P869L|ENST00000389658,p.P1393L	retained_intron, protein_coding	uc010wzj.2	nonsynonymous SNV	exon28	c.C2606T	p.P869L	HRGKLPAGSDRGPRPLVAPCVPCSC	HRGKLPAGSDRGLRPLVAPCVPCSC	2.0	2.0	unscreened	-	3881_18:7007220-7007220 G>A_HRGKLPAGSDRGLRPLVAPCVPCSC
8:10469090-10469090 C>T	0.0	3881	MELANOMA	-	-	-	-	RP1L1	ENST00000382483,p.G840R|uc003wtc.3,p.G840R|NM_178857,p.G840R	protein_coding, processed_transcript	uc003wtc.3	nonsynonymous SNV	exon4	c.G2518A	p.G840R	QPGTQPAQEAQRGPSPEASWLCGRY	QPGTQPAQEAQRRPSPEASWLCGRY	1.0	5.0	unscreened	-	3881_8:10469090-10469090 C>T_QPGTQPAQEAQRRPSPEASWLCGRY
12:53201524-53201524 C>T	0.0	3881	MELANOMA	-	-	-	-	KRT4	uc031qhk.1,p.R417Q|ENST00000458244,p.R397Q|ENST00000551956,p.R417Q|ENST00000293774,p.R491Q|NM_002272,p.R417Q	retained_intron, protein_coding, nonsense_mediated_decay	uc031qhk.1	nonsynonymous SNV	exon7	c.G1250A	p.R417Q	EAALQQAKEELARMLREYQELMSVK	EAALQQAKEELAQMLREYQELMSVK	1.0	9.0	unscreened	-	3881_12:53201524-53201524 C>T_EAALQQAKEELAQMLREYQELMSVK
X:108628497-108628497 C>T	0.0	3881	MELANOMA	-	-	-	-	GUCY2F	NM_001522,p.G991R|uc004eod.4,p.G991R|ENST00000218006,p.G991R|uc022cch.1,p.G991R	protein_coding	uc022cch.1	nonsynonymous SNV	exon15	c.G2971A	p.G991R	IRIGLHSGPVVAGVVGLTMPRYCLF	IRIGLHSGPVVARVVGLTMPRYCLF	1.0	4.0	unscreened	-	3881_X:108628497-108628497 C>T_IRIGLHSGPVVARVVGLTMPRYCLF
17:8455438-8455438 A>G	0.0	3881	MELANOMA	-	-	-	-	MYH10	ENST00000396239,p.V272A|NM_005964,p.V272A|uc002glm.4,p.V282A|NM_001256012,p.V282A|ENST00000269243,p.V272A|ENST00000360416,p.V282A|ENST00000379980,p.V288A|NM_001256095,p.V281A|uc010cnx.4,p.V281A|uc002gll.4,p.V272A	retained_intron, protein_coding	uc010cnx.4	nonsynonymous SNV	exon9	c.T842C	p.V281A	NIETYLLEKSRAVRQAKDERTFHIF	NIETYLLEKSRAARQAKDERTFHIF	5.0	1.0	unscreened	-	3881_17:8455438-8455438 A>G_NIETYLLEKSRAARQAKDERTFHIF
3:62751605-62751605 C>T	0.0	3881	MELANOMA	-	-	-	-	CADPS	ENST00000357948,p.G166R|uc003dlm.2,p.G166R|uc003dln.2,p.G166R|ENST00000383710,p.G166R|ENST00000283269,p.G166R|NM_183394,p.G166R|uc021wzv.1,p.G166R|ENST00000490353,p.G166R|NM_003716,p.G166R|NM_183393,p.G166R|uc003dll.2,p.G166R	retained_intron, protein_coding, processed_transcript	uc021wzv.1	nonsynonymous SNV	exon2	c.G496A	p.G166R	QTVKDRFQAFLNGETQIMADEAFMN	QTVKDRFQAFLNRETQIMADEAFMN	3.0	8.0	unscreened	-	3881_3:62751605-62751605 C>T_QTVKDRFQAFLNRETQIMADEAFMN
4:70146789-70146789 C>T	0.0	3881	MELANOMA	-	-	-	-	UGT2B28	uc010ihr.3,p.P191S|ENST00000335568,p.P191S|NM_001207004,p.P191S|uc003hej.3,p.P191S|NM_053039,p.P191S|ENST00000511240,p.P191S	protein_coding	uc010ihr.3	nonsynonymous SNV	exon1	c.C571T	p.P191S	TIERHSGGLIFPPSYIPVVMSKLSD	TIERHSGGLIFPSSYIPVVMSKLSD	1.0	7.0	unscreened	-	3881_4:70146789-70146789 C>T_TIERHSGGLIFPSSYIPVVMSKLSD
6:32052274-32052274 C>T	0.0	3881	MELANOMA	-	-	-	-	TNXB	ENST00000375247,p.D1121N|uc003nzl.2,p.D1121N|NM_019105,p.D1121N|ENST00000375244,p.D1121N	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon8	c.G3361A	p.D1121N	EGPQRSAVITSLDPGRKYKFVLYGF	EGPQRSAVITSLNPGRKYKFVLYGF	5.0	1.0	unscreened	-	3881_6:32052274-32052274 C>T_EGPQRSAVITSLNPGRKYKFVLYGF
19:45316799-45316799 C>T	0.0	3881	MELANOMA	-	-	-	-	BCAM	ENST00000391955,p.H236Y|NM_001013257,p.H236Y|uc002ozt.2,p.H236Y|ENST00000591520,p.H215Y|NM_005581,p.H236Y|uc002ozu.4,p.H236Y|ENST00000270233,p.H236Y	retained_intron, protein_coding, nonsense_mediated_decay	uc002ozu.4	nonsynonymous SNV	exon6	c.C706T	p.H236Y	LRLRKDDRDASFHCAAHYSLPEGRH	LRLRKDDRDASFYCAAHYSLPEGRH	4.0	1.0	unscreened	-	3881_19:45316799-45316799 C>T_LRLRKDDRDASFYCAAHYSLPEGRH
X:130411854-130411854 C>T	0.0	3881	MELANOMA	-	-	-	-	IGSF1	uc004ewe.4,p.E771K|ENST00000370910,p.E757K|NM_001170961,p.E771K|ENST00000370904,p.E757K|uc022cdv.1,p.E757K|uc004ewd.3,p.E766K|ENST00000370903,p.E771K|uc004ewf.2,p.E746K|NM_001170962,p.E757K|NM_001555,p.E766K|ENST00000361420,p.E766K	protein_coding, processed_transcript	uc022cdv.1	nonsynonymous SNV	exon12	c.G2269A	p.E757K	TEKRPFKWSEPSEPLELVIKEMYPK	TEKRPFKWSEPSKPLELVIKEMYPK	1.0	6.0	unscreened	-	3881_X:130411854-130411854 C>T_TEKRPFKWSEPSKPLELVIKEMYPK
5:13817705-13817705 C>T	0.0	3881	MELANOMA	-	-	-	-	DNAH5	uc003jfd.2,p.D2314N|ENST00000265104,p.D2314N|NM_001369,p.D2314N	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon42	c.G6940A	p.D2314N	FGRLDVATNDWTDGIFSTLWRKTLR	FGRLDVATNDWTNGIFSTLWRKTLR	1.0	3.0	unscreened	-	3881_5:13817705-13817705 C>T_FGRLDVATNDWTNGIFSTLWRKTLR
7:100365512-100365512 G>A	0.0	3881	MELANOMA	-	-	-	-	ZAN	ENST00000542585,p.R1640K|uc003uwj.3,p.R1640K|uc011kkd.1,p.R217K|ENST00000546213,p.R217K|uc003uwk.3,p.R1640K|ENST00000538115,p.R1640K|ENST00000546292,p.R1640K	protein_coding, polymorphic_pseudogene	uc011kkd.1	nonsynonymous SNV	exon5	c.G650A	p.R217K	LPVWLAQGRVTIRLSSNLVLLYTNF	LPVWLAQGRVTIKLSSNLVLLYTNF	1.0	5.0	unscreened	-	3881_7:100365512-100365512 G>A_LPVWLAQGRVTIKLSSNLVLLYTNF
X:36089986-36089986 C>T	0.0	3881	MELANOMA	-	-	-	-	CHDC2	NM_173695,p.P30S|uc004ddk.1,p.P30S|ENST00000313548,p.P30S|ENST00000378660,p.P30S	protein_coding	uc004ddk.1	nonsynonymous SNV	exon3	c.C88T	p.P30S	EYLKKTRDGVLPPYQDAKPPSPASI	EYLKKTRDGVLPSYQDAKPPSPASI	1.0	10.0	unscreened	-	3881_X:36089986-36089986 C>T_EYLKKTRDGVLPSYQDAKPPSPASI
6:24205393-24205393 G>A	0.0	3881	MELANOMA	-	-	-	-	DCDC2	uc003ndw.3,p.P38L|ENST00000378450,p.P40L	protein_coding	uc003ndw.3	nonsynonymous SNV	exon1	c.C113T	p.P38L	QMSIKNKHLIVIPAFSHTMSQLDFD	QMSIKNKHLIVILAFSHTMSQLDFD	5.0	8.0	unscreened	-	3881_6:24205393-24205393 G>A_QMSIKNKHLIVILAFSHTMSQLDFD
11:6231348-6231348 G>A	0.0	3881	MELANOMA	-	-	-	-	C11orf42	uc001mcj.3,p.R114Q|NM_173525,p.R114Q|ENST00000316375,p.R114Q	protein_coding	uc001mcj.3	nonsynonymous SNV	exon2	c.G341A	p.R114Q	PNGRAERAYEETRMLDGQPCKIRLH	PNGRAERAYEETQMLDGQPCKIRLH	1.0	1.0	unscreened	-	3881_11:6231348-6231348 G>A_PNGRAERAYEETQMLDGQPCKIRLH
19:22155159-22155159 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF208	NM_007153,p.E893K|uc021urr.1,p.E893K|ENST00000397126,p.E893K	protein_coding	uc021urr.1	nonsynonymous SNV	exon4	c.G2677A	p.E893K	KIHTGEKPYKCEECGKGFSMFSILT	KIHTGEKPYKCEKCGKGFSMFSILT	8.0	4.0	unscreened	-	3881_19:22155159-22155159 C>T_KIHTGEKPYKCEKCGKGFSMFSILT
4:20493405-20493405 C>T	0.0	3881	MELANOMA	-	-	-	-	SLIT2	ENST00000273739,p.P270L|ENST00000503837,p.P270L|NM_001289135,p.P270L	retained_intron, protein_coding, processed_transcript	NM_001289135	nonsynonymous SNV	exon9	c.C809T	p.P270L	SDEEEGHQSFMAPSCSVLHCPAACT	SDEEEGHQSFMALSCSVLHCPAACT	5.0	9.0	unscreened	-	3881_4:20493405-20493405 C>T_SDEEEGHQSFMALSCSVLHCPAACT
19:9065190-9065190 G>A	0.0	3881	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.S7419F|uc002mkp.3,p.S7419F|NM_024690,p.S7419F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C22256T	p.S7419F	VSSTLPASSHSSSASVTSLLTPGQV	VSSTLPASSHSSFASVTSLLTPGQV	1.0	4.0	unscreened	-	3881_19:9065190-9065190 G>A_VSSTLPASSHSSFASVTSLLTPGQV
17:26851579-26851579 C>T	0.0	3881	MELANOMA	-	-	-	-	FOXN1	uc002hbj.3,p.P61L|NM_003593,p.P61L|ENST00000226247,p.P61L|ENST00000579795,p.P61L|ENST00000577936,p.P61L|uc010crm.3,p.P61L	protein_coding	uc010crm.3	nonsynonymous SNV	exon3	c.C182T	p.P61L	SSFVSDGPPERTPSLPPHSPRIASP	SSFVSDGPPERTLSLPPHSPRIASP	1.0	3.0	unscreened	-	3881_17:26851579-26851579 C>T_SSFVSDGPPERTLSLPPHSPRIASP
12:56863278-56863278 C>T	0.0	3881	MELANOMA	-	-	-	-	SPRYD4	uc001sli.4,p.R181W|NM_207344,p.R181W|ENST00000338146,p.R181W|uc010sqo.1,p.R169W	protein_coding	uc010sqo.1	nonsynonymous SNV	exon3	c.C505T	p.R169W	QVSVVHTLQTDFRGPVVPAFALWDG	QVSVVHTLQTDFWGPVVPAFALWDG	5.0	8.0	unscreened	-	3881_12:56863278-56863278 C>T_QVSVVHTLQTDFWGPVVPAFALWDG
4:100774468-100774468 G>A	0.0	3881	MELANOMA	-	-	-	-	DAPP1	ENST00000512369,p.G151E|uc003hvf.4,p.G151E|ENST00000296414,p.G151E|NM_014395,p.G151E|uc010ilh.3,p.G151E	retained_intron, protein_coding	uc010ilh.3	nonsynonymous SNV	exon4	c.G452A	p.G151E	YESVRVHTAMQTGRTEDDLVPTAPS	YESVRVHTAMQTERTEDDLVPTAPS	6.0	10.0	unscreened	-	3881_4:100774468-100774468 G>A_YESVRVHTAMQTERTEDDLVPTAPS
19:39228274-39228274 C>T	0.0	3881	MELANOMA	-	-	-	-	CAPN12	uc002ojd.1,p.E324K|ENST00000328867,p.E324K|ENST00000601953,p.E175K|NM_144691,p.E324K	retained_intron, protein_coding, nonsense_mediated_decay	uc002ojd.1	nonsynonymous SNV	exon9	c.G970A	p.E324K	LLVKKEDGEFWMELRDFLLHFDTVQ	LLVKKEDGEFWMKLRDFLLHFDTVQ	3.0	10.0	unscreened	-	3881_19:39228274-39228274 C>T_LLVKKEDGEFWMKLRDFLLHFDTVQ
18:66564573-66564573 G>A	0.0	3881	MELANOMA	-	-	-	-	CCDC102B	ENST00000360242,p.E391K|ENST00000319445,p.E391K|uc002lkj.1,p.E391K|NM_001093729,p.E391K|ENST00000358653,p.E391K|uc002lkk.2,p.E391K|ENST00000584156,p.E391K|uc002lki.2,p.E391K|NM_024781,p.E391K	retained_intron, protein_coding, processed_transcript	uc002lkk.2	nonsynonymous SNV	exon8	c.G1171A	p.E391K	ENRRLKIQVKEMEELLDKKNRLSAN	ENRRLKIQVKEMKELLDKKNRLSAN	6.0	5.0	unscreened	-	3881_18:66564573-66564573 G>A_ENRRLKIQVKEMKELLDKKNRLSAN
9:135374954-135374954 T>A	0.0	3881	MELANOMA	-	-	-	-	C9orf171	ENST00000343036,p.L200H|uc004cbo.3,p.L164H|NM_207417,p.L200H|ENST00000393216,p.L164H|NM_001282957,p.L164H|uc004cbn.3,p.L200H	protein_coding	uc004cbo.3	nonsynonymous SNV	exon3	c.T491A	p.L164H	QDDRRMKKEPPPLPPNMTFGIRARP	QDDRRMKKEPPPHPPNMTFGIRARP	1.0	10.0	unscreened	-	3881_9:135374954-135374954 T>A_QDDRRMKKEPPPHPPNMTFGIRARP
9:19786369-19786369 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC24A2	NM_001193288,p.E166K|uc003zob.2,p.E166K|ENST00000286344,p.E166K|ENST00000341998,p.E166K|uc003zoa.2,p.E166K|NM_020344,p.E166K	protein_coding	uc003zob.2	nonsynonymous SNV	exon1	c.G496A	p.E166K	DEFFVPSLTVITEKLGISDDVAGAT	DEFFVPSLTVITKKLGISDDVAGAT	1.0	10.0	unscreened	-	3881_9:19786369-19786369 C>T_DEFFVPSLTVITKKLGISDDVAGAT
2:179419231-179419231 C>T	0.0	3881	MELANOMA	-	-	-	-	TTN	ENST00000589042,p.G29615R|uc021vta.2,p.G20675R|ENST00000342175,p.G20742R|uc021vsy.2,p.G27047R|ENST00000460472,p.G20550R|NM_133378,p.G27047R|NM_003319,p.G20550R|NM_001267550,p.G29615R|NM_133437,p.G20742R|NM_001256850,p.G27974R|ENST00000359218,p.G20675R|uc031rqc.1,p.G29615R|NM_133432,p.G20675R|uc021vsz.2,p.G20742R|ENST00000342992,p.G27047R|uc031rqd.1,p.G27974R|uc021vtb.2,p.G20550R|ENST00000591111,p.G27974R	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon282	c.G83920A	p.G27974R	EYIFRVRAVNKYGIGEPLESDSVVA	EYIFRVRAVNKYRIGEPLESDSVVA	2.0	10.0	unscreened	-	3881_2:179419231-179419231 C>T_EYIFRVRAVNKYRIGEPLESDSVVA
3:134968325-134968325 G>A	1.0	3881	MELANOMA	-	-	-	-	EPHB1	ENST00000398015,p.M946I|uc003equ.3,p.M507I|uc003eqt.3,p.M946I|NM_004441,p.M946I|ENST00000493838,p.M507I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003equ.3	nonsynonymous SNV	exon13	c.G1521A	p.M507I	TAGFTSLQLVTQMTSEDLLRIGITL	TAGFTSLQLVTQITSEDLLRIGITL	4.0	9.0	unscreened	-	3881_3:134968325-134968325 G>A_TAGFTSLQLVTQITSEDLLRIGITL
16:24887051-24887051 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC5A11	NM_001258413,p.S95L|uc002dms.4,p.S95L|ENST00000539472,p.S95L|ENST00000569071,p.S95L|ENST00000347898,p.S159L|uc010bxt.4,p.S95L|uc002dmu.4,p.S159L|NM_001258414,p.S95L|NM_052944,p.S159L|ENST00000449109,p.S95L|ENST00000565769,p.S95L|uc002dmt.4,p.S95L	retained_intron, protein_coding, nonsense_mediated_decay	uc010bxt.4	nonsynonymous SNV	exon8	c.C284T	p.S95L	VLYLFIYIFTKISVDMYAGAIFIQQ	VLYLFIYIFTKILVDMYAGAIFIQQ	1.0	9.0	unscreened	-	3881_16:24887051-24887051 C>T_VLYLFIYIFTKILVDMYAGAIFIQQ
22:17072720-17072720 C>T	0.0	3881	MELANOMA	-	-	-	-	CCT8L2	NM_014406,p.V241M|uc002zlp.1,p.V241M|ENST00000359963,p.V241M	protein_coding	uc002zlp.1	nonsynonymous SNV	exon1	c.G721A	p.V241M	CGQMATVLSGARVALFACPFGPAHP	CGQMATVLSGARMALFACPFGPAHP	1.0	4.0	unscreened	-	3881_22:17072720-17072720 C>T_CGQMATVLSGARMALFACPFGPAHP
18:47803290-47803290 G>A	1.0	3881	MELANOMA	-	-	-	-	MBD1	NM_001204140,p.P102S|ENST00000339998,p.P102S|ENST00000269471,p.P102S|ENST00000591416,p.P102S|NM_015844,p.P102S|NM_002384,p.P102S|ENST00000590208,p.P102S|ENST00000347968,p.P102S|ENST00000349085,p.P102S|uc002lej.4,p.P102S|uc002leo.2,p.P102S|uc010xdj.2,p.P102S|NM_001204139,p.P102S|uc010dox.1,p.P102S|NM_001204138,p.P102S|NM_001204137,p.P102S|ENST00000424334,p.P128S|ENST00000353909,p.P102S|ENST00000588937,p.P102S|ENST00000585595,p.P102S|uc002leh.4,p.P102S|ENST00000587605,p.P102S|NM_015846,p.P102S|ENST00000585672,p.P102S|ENST00000457839,p.P102S|ENST00000382948,p.P102S|uc010xdi.2,p.P128S|NM_001204151,p.P102S|NM_001204141,p.P102S|ENST00000436910,p.P102S|ENST00000269468,p.P102S|uc002lek.4,p.P102S|uc002leg.3,p.P102S|uc002lel.4,p.P102S|ENST00000398493,p.P102S|NM_001204143,p.P102S|ENST00000591535,p.P102S|uc010xdk.2,p.P102S|uc021ukd.1,p.P102S|uc002lem.4,p.P102S|ENST00000398488,p.P102S|NM_015847,p.P102S|NM_001204136,p.P102S|uc021uke.1,p.P102S|uc002len.3,p.P102S|uc002lei.4,p.P102S|NM_015845,p.P102S|uc010dow.2,p.P102S|ENST00000398495,p.P102S|NM_001204142,p.P102S	retained_intron, protein_coding, nonsense_mediated_decay	uc021uke.1	nonsynonymous SNV	exon4	c.C304T	p.P102S	SRPAKTRKRQVGPQSGEVRKEAPRD	SRPAKTRKRQVGSQSGEVRKEAPRD	9.0	8.0	unscreened	-	3881_18:47803290-47803290 G>A_SRPAKTRKRQVGSQSGEVRKEAPRD
10:124390662-124390662 G>A	0.0	3881	MELANOMA	-	-	-	-	DMBT1	uc021qag.1,p.G1932S|uc009yab.1,p.G645S|ENST00000368955,p.G1932S|uc001lgm.1,p.G1314S|ENST00000344338,p.G1932S|ENST00000338354,p.G1942S|NM_007329,p.G1942S|ENST00000368909,p.G1942S|uc021qaf.1,p.G1942S|uc021qah.1,p.G1314S|ENST00000359586,p.G662S|ENST00000330163,p.G1314S|uc009yac.1,p.G236S|ENST00000368956,p.G1314S|uc001lgl.1,p.G1932S|NM_004406,p.G1314S|uc009xzz.1,p.G1942S|uc001lgk.1,p.G1942S|NM_017579,p.G1932S|uc010qtx.1,p.G662S	protein_coding	uc021qah.1	nonsynonymous SNV	exon33	c.G3940A	p.G1314S	GRAVSALGNAYFGSGSGPITLDDVE	GRAVSALGNAYFSSGSGPITLDDVE	1.0	10.0	unscreened	-	3881_10:124390662-124390662 G>A_GRAVSALGNAYFSSGSGPITLDDVE
10:75391753-75391753 C>T	0.0	3881	MELANOMA	-	-	-	-	MYOZ1	ENST00000359322,p.G279R|NM_021245,p.G279R|uc001jur.4,p.G279R	protein_coding, processed_transcript	uc001jur.4	nonsynonymous SNV	exon6	c.G835A	p.G279R	SFNRTPIPWLSSGEPVDYNVDIGIP	SFNRTPIPWLSSREPVDYNVDIGIP	1.0	10.0	unscreened	-	3881_10:75391753-75391753 C>T_SFNRTPIPWLSSREPVDYNVDIGIP
19:51506376-51506376 C>T	0.0	3881	MELANOMA	-	-	-	-	KLK9	ENST00000376832,p.M248I|ENST00000250366,p.M248I|uc010eol.1,p.M219I|ENST00000594211,p.M248I|uc002pux.1,p.M248I|ENST00000599166,p.M89I|NM_012315,p.M248I	 nonsense_mediated_decay,protein_coding,nonsense_mediated_decay	uc010eol.1	nonsynonymous SNV	exon4	c.G657A	p.M219I	SVCHYLDWIQEIMEN	SVCHYLDWIQEIIEN	1.0	3.0	unscreened	-	3881_19:51506376-51506376 C>T_SVCHYLDWIQEIIEN
8:103324632-103324632 G>A	1.0	3881	MELANOMA	-	-	-	1	UBR5	uc003ykr.2,p.P697S|uc003yks.2,p.P697S|NM_015902,p.P697S|ENST00000220959,p.P697S|ENST00000520539,p.P697S|NM_001282873,p.P697S|ENST00000521922,p.P691S	retained_intron, protein_coding, processed_transcript	uc003yks.2	nonsynonymous SNV	exon17	c.C2089T	p.P697S	TSSNTNCQNSSGPDADPSSLLQDCR	TSSNTNCQNSSGSDADPSSLLQDCR	10.0	8.0	unscreened	-	3881_8:103324632-103324632 G>A_TSSNTNCQNSSGSDADPSSLLQDCR
7:143657973-143657973 C>A	0.0	3881	MELANOMA	-	-	-	-	OR2F1	uc003wds.1,p.L304I|NM_012369,p.L304I|ENST00000392899,p.L304I	protein_coding	uc003wds.1	nonsynonymous SNV	exon1	c.C910A	p.L304I	LRNKEVKGAWQKLLWKFSGLTSKLA	LRNKEVKGAWQKILWKFSGLTSKLA	1.0	1.0	unscreened	-	3881_7:143657973-143657973 C>A_LRNKEVKGAWQKILWKFSGLTSKLA
11:17416767-17416767 C>T	0.0	3881	MELANOMA	-	-	-	-	ABCC8	ENST00000389817,p.E1455K|NM_000352,p.E1455K|ENST00000302539,p.E1456K|uc001mnc.3,p.E1455K|NM_001287174,p.E1456K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mnc.3	nonsynonymous SNV	exon36	c.G4363A	p.E1455K	RKCSDSTLWEALEIAQLKLVVKALP	RKCSDSTLWEALKIAQLKLVVKALP	1.0	10.0	unscreened	-	3881_11:17416767-17416767 C>T_RKCSDSTLWEALKIAQLKLVVKALP
8:70585159-70585159 G>A	0.0	3881	MELANOMA	-	-	-	-	SLCO5A1	ENST00000260126,p.S831F|uc010lzb.3,p.S776F|NM_030958,p.S831F|uc003xyl.3,p.S831F|NM_001146009,p.S776F|ENST00000530307,p.S776F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lzb.3	nonsynonymous SNV	exon8	c.C2327T	p.S776F	QTYPGPFPEAISSSADPGLEESPAA	QTYPGPFPEAISFSADPGLEESPAA	3.0	2.0	unscreened	-	3881_8:70585159-70585159 G>A_QTYPGPFPEAISFSADPGLEESPAA
13:110814670-110814670 C>T	0.0	3881	MELANOMA	-	-	-	-	COL4A1	uc001vqw.4,p.D1457N|NM_001845,p.D1457N|ENST00000375820,p.D1457N	protein_coding, processed_transcript	uc001vqw.4	nonsynonymous SNV	exon48	c.G4369A	p.D1457N	GFLVTRHSQTIDDPQCPSGTKILYH	GFLVTRHSQTIDNPQCPSGTKILYH	9.0	7.0	unscreened	-	3881_13:110814670-110814670 C>T_GFLVTRHSQTIDNPQCPSGTKILYH
14:101348350-101348350 G>A	0.0	3881	MELANOMA	-	-	-	-	RTL1	NM_001134888,p.P926S|ENST00000534062,p.P926S|uc010txj.1,p.P926S	protein_coding	uc010txj.1	nonsynonymous SNV	exon1	c.C2776T	p.P926S	EVEYSQAEMKILPIRAAFMVWCRYL	EVEYSQAEMKILSIRAAFMVWCRYL	1.0	9.0	unscreened	-	3881_14:101348350-101348350 G>A_EVEYSQAEMKILSIRAAFMVWCRYL
X:100502097-100502097 A>G	0.0	3881	MELANOMA	-	-	-	-	DRP2	ENST00000402866,p.K399R|ENST00000538510,p.K399R|NM_001171184,p.K321R|uc004egz.2,p.K399R|uc011mrh.1,p.K321R|ENST00000541709,p.K321R|ENST00000395209,p.K399R|NM_001939,p.K399R	protein_coding, nonsense_mediated_decay	uc011mrh.1	nonsynonymous SNV	exon10	c.A962G	p.K321R	ELYQTLADLNNIKFSAYRTAMKLRR	ELYQTLADLNNIRFSAYRTAMKLRR	2.0	4.0	unscreened	-	3881_X:100502097-100502097 A>G_ELYQTLADLNNIRFSAYRTAMKLRR
2:168114928-168114928 T>-	0.0	3881	MELANOMA	-	-	-	-	XIRP2	ENST00000409728,p.P657fs|uc010fpo.3,p.P624fs|ENST00000420519,p.P657fs|NM_001079810,p.P624fs|ENST00000409605,p.P402fs|ENST00000409756,p.P624fs|ENST00000409043,p.P624fs|uc010fpn.3,p.P657fs|uc010fpr.3,p.P402fs|NM_001199145,p.P402fs|NM_001199143,p.P657fs	protein_coding	uc010fpr.3	frameshift deletion	exon8	c.1206delT	p.P402fs	KEDVIGIKEMKMPEGRKDEKKEGRK	KEDVIGIKEMKMPKEEKMKRRKEGRMCKIGRVKLKTQRVTGKVLWILMTTIM	1.0	5.0	unscreened	-	3881_2:168114928-168114928 T>-_KEDVIGIKEMKMPKEEKMKRRKEGRMCKIGRVKLKTQRVTGKVLWILMTTIM
1:204587773-204587773 C>T	0.0	3881	MELANOMA	-	-	-	-	LRRN2	uc021phy.1,p.E450K|uc001hbf.1,p.E450K|uc001hbe.1,p.E450K|uc009xbf.1,p.E450K|ENST00000367175,p.E450K|NM_006338,p.E450K|ENST00000367176,p.E450K|NM_201630,p.E450K|ENST00000367177,p.E450K	protein_coding, processed_transcript	uc021phy.1	nonsynonymous SNV	exon1	c.G1348A	p.E450K	GESMVLHCRALAEPEPEIYWVTPAG	GESMVLHCRALAKPEPEIYWVTPAG	1.0	10.0	unscreened	-	3881_1:204587773-204587773 C>T_GESMVLHCRALAKPEPEIYWVTPAG
1:119427807-119427807 G>A	0.0	3881	MELANOMA	-	-	-	-	TBX15	uc001ehl.1,p.P347S|ENST00000369429,p.P453S|ENST00000449873,p.P181S|NM_152380,p.P347S|ENST00000207157,p.P347S|uc009whj.1,p.P171S	protein_coding	uc009whj.1	nonsynonymous SNV	exon3	c.C511T	p.P171S	QRTPSLISGIPTPPSLPGNSKMEAY	QRTPSLISGIPTSPSLPGNSKMEAY	3.0	6.0	unscreened	-	3881_1:119427807-119427807 G>A_QRTPSLISGIPTSPSLPGNSKMEAY
3:58622917-58622917 G>A	0.0	3881	MELANOMA	-	-	-	-	FAM3D	ENST00000358781,p.P137S|uc003dkq.3,p.P137S|ENST00000483787,p.P136S|ENST00000489857,p.P100S|NM_138805,p.P137S	protein_coding, nonsense_mediated_decay	uc003dkq.3	nonsynonymous SNV	exon8	c.C409T	p.P137S	DVMHLVKFLKEIPGGALVLVASYDD	DVMHLVKFLKEISGGALVLVASYDD	1.0	10.0	unscreened	-	3881_3:58622917-58622917 G>A_DVMHLVKFLKEISGGALVLVASYDD
8:114111082-114111082 C>T	0.0	3881	MELANOMA	-	-	-	2	CSMD3	ENST00000343508,p.E234K|uc003ynu.3,p.E274K|NM_198124,p.E234K|uc011lhx.2,p.E274K|ENST00000297405,p.E274K|uc010mcx.1,p.E274K|ENST00000352409,p.E274K|NM_052900,p.E274K|ENST00000455883,p.E274K|uc003ynt.3,p.E234K|NM_198123,p.E274K	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon5	c.G820A	p.E274K	HNNADCTWTIVAEPGDTISLIFTDF	HNNADCTWTIVAKPGDTISLIFTDF	1.0	8.0	unscreened	-	3881_8:114111082-114111082 C>T_HNNADCTWTIVAKPGDTISLIFTDF
13:33638162-33638162 G>A	0.0	3881	MELANOMA	-	-	-	-	KL	uc001uus.3,p.E960K|ENST00000380099,p.E960K|NM_004795,p.E960K	protein_coding, processed_transcript	uc001uus.3	nonsynonymous SNV	exon5	c.G2878A	p.E960K	IDSNGFPGPETLERFCPEEFTVCTE	IDSNGFPGPETLKRFCPEEFTVCTE	3.0	7.0	unscreened	-	3881_13:33638162-33638162 G>A_IDSNGFPGPETLKRFCPEEFTVCTE
16:51174152-51174152 G>A	0.0	3881	MELANOMA	-	-	-	-	SALL1	NM_002968,p.P661S|ENST00000440970,p.P564S|ENST00000570206,p.P564S|ENST00000251020,p.P661S|uc021tid.1,p.P564S|uc021tif.1,p.P564S|uc021tie.1,p.P661S|NM_001127892,p.P564S	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon2	c.C1690T	p.P564S	CGPAGSATTFTNPLLPLMSEQFKAK	CGPAGSATTFTNSLLPLMSEQFKAK	1.0	5.0	unscreened	-	3881_16:51174152-51174152 G>A_CGPAGSATTFTNSLLPLMSEQFKAK
15:54786846-54786846 G>A	0.0	3881	MELANOMA	-	-	-	-	UNC13C	ENST00000537900,p.M1656I|uc021sms.1,p.M1658I|ENST00000260323,p.M1658I|ENST00000545554,p.M1658I|NM_001080534,p.M1658I	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon19	c.G4974A	p.M1658I	HENQRLCKSTDYMNLHFKVKWFYNE	HENQRLCKSTDYINLHFKVKWFYNE	1.0	1.0	unscreened	-	3881_15:54786846-54786846 G>A_HENQRLCKSTDYINLHFKVKWFYNE
1:109191258-109191258 G>A	0.0	3881	MELANOMA	-	-	-	-	HENMT1	uc001dvu.4,p.P371L|NM_001102592,p.P371L|ENST00000370032,p.P371L|ENST00000370031,p.P402L|NM_144584,p.P371L|uc001dvt.4,p.P371L|ENST00000402983,p.P371L	protein_coding, processed_transcript	uc001dvu.4	nonsynonymous SNV	exon8	c.C1112T	p.P371L	EEMMRSVIADSIPLSSDGSAVVADL	EEMMRSVIADSILLSSDGSAVVADL	5.0	4.0	unscreened	-	3881_1:109191258-109191258 G>A_EEMMRSVIADSILLSSDGSAVVADL
10:135024970-135024970 G>A	0.0	3881	MELANOMA	0.0005	-	-	-	KNDC1	uc001llz.1,p.R1318Q|NM_152643,p.R1318Q|ENST00000368572,p.R1320Q|ENST00000304613,p.R1318Q	retained_intron, protein_coding, processed_transcript	uc001llz.1	nonsynonymous SNV	exon22	c.G3953A	p.R1318Q	QDPTSTFTKIYRRSLCVLQAWVEDC	QDPTSTFTKIYRQSLCVLQAWVEDC	1.0	10.0	unscreened	-	3881_10:135024970-135024970 G>A_QDPTSTFTKIYRQSLCVLQAWVEDC
17:11568216-11568216 G>A	0.0	3881	MELANOMA	-	-	-	-	DNAH9	NM_001372,p.D888N|ENST00000262442,p.D888N|uc010coo.3,p.D182N|uc002gne.3,p.D888N|ENST00000454412,p.D888N	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon3	c.G544A	p.D182N	TSNIWKTYVNSIDNLLLNGFFLAIE	TSNIWKTYVNSINNLLLNGFFLAIE	1.0	7.0	unscreened	-	3881_17:11568216-11568216 G>A_TSNIWKTYVNSINNLLLNGFFLAIE
1:237777863-237777863 G>A	0.0	3881	MELANOMA	-	-	-	-	RYR2	ENST00000366574,p.G1812E|ENST00000542537,p.G1796E|uc001hyl.1,p.G1812E|NM_001035,p.G1812E|ENST00000360064,p.G1810E	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon37	c.G5435A	p.G1812E	KEGSLHARDPVGGTTEFLFVPLIKL	KEGSLHARDPVGETTEFLFVPLIKL	3.0	2.0	unscreened	-	3881_1:237777863-237777863 G>A_KEGSLHARDPVGETTEFLFVPLIKL
8:6728315-6728315 G>A	0.0	3881	MELANOMA	-	-	-	-	DEFB1	NM_005218,p.S32F|uc003wqs.2,p.S32F|ENST00000297439,p.S32F	protein_coding	uc003wqs.2	nonsynonymous SNV	exon2	c.C95T	p.S32F	SGGNFLTGLGHRSDHYNCVSSGGQC	SGGNFLTGLGHRFDHYNCVSSGGQC	1.0	2.0	unscreened	-	3881_8:6728315-6728315 G>A_SGGNFLTGLGHRFDHYNCVSSGGQC
7:93073042-93073042 G>A	0.0	3881	MELANOMA	-	-	-	-	CALCR	NM_001164738,p.H226Y|ENST00000359558,p.H260Y|NM_001742,p.H226Y|uc003umv.2,p.H260Y|uc022ahi.1,p.H226Y|ENST00000360249,p.H242Y|uc003umw.2,p.H226Y|NM_001164737,p.H260Y|ENST00000394441,p.H226Y|ENST00000421592,p.H242Y|ENST00000415529,p.H226Y|ENST00000423724,p.H242Y|ENST00000426151,p.H226Y	protein_coding, nonsense_mediated_decay	uc022ahi.1	nonsynonymous SNV	exon8	c.C676T	p.H226Y	RDPVSCKILHFFHQYMMACNYFWML	RDPVSCKILHFFYQYMMACNYFWML	1.0	1.0	unscreened	-	3881_7:93073042-93073042 G>A_RDPVSCKILHFFYQYMMACNYFWML
16:86601462-86601462 C>T	0.0	3881	MELANOMA	-	-	-	-	FOXC2	uc002fjq.3,p.S174F|NM_005251,p.S174F|ENST00000320354,p.S174F	protein_coding	uc002fjq.3	nonsynonymous SNV	exon1	c.C521T	p.S174F	LRRRRRFKKKDVSKEKEERAHLKEP	LRRRRRFKKKDVFKEKEERAHLKEP	2.0	7.0	unscreened	-	3881_16:86601462-86601462 C>T_LRRRRRFKKKDVFKEKEERAHLKEP
9:135374954-135374954 T>A	0.0	3881	MELANOMA	-	-	-	-	C9orf171	ENST00000393215,p.L164H	protein_coding	ENST00000393215	nonsynonymous SNV	exon3	c.T491A	p.L164H	QDDRRMKKEPPPLPPNMTFGIRARK	QDDRRMKKEPPPHPPNMTFGIRARK	1.0	10.0	unscreened	-	3881_9:135374954-135374954 T>A_QDDRRMKKEPPPHPPNMTFGIRARK
3:97888043-97888043 C>T	0.0	3881	MELANOMA	-	-	-	-	OR5H15	NM_001005515,p.T167I|uc011bgu.2,p.T167I|ENST00000356526,p.T167I	protein_coding	uc011bgu.2	nonsynonymous SNV	exon1	c.C500T	p.T167I	HALIHEGFLFRLTFCNSNIVHHIYC	HALIHEGFLFRLIFCNSNIVHHIYC	1.0	2.0	unscreened	-	3881_3:97888043-97888043 C>T_HALIHEGFLFRLIFCNSNIVHHIYC
15:90631908-90631908 G>A	0.0	3881	MELANOMA	-	-	-	1	IDH2	ENST00000539790,p.R19W|NM_001290114,p.R19W|ENST00000540499,p.R97W|ENST00000330062,p.R149W|uc002box.3,p.R149W|NM_002168,p.R149W|NM_001289910,p.R97W|uc010uqb.2,p.R97W|uc010uqc.2,p.R19W	protein_coding, nonsense_mediated_decay	uc010uqc.2	nonsynonymous SNV	exon2	c.C55T	p.R19W	GTIRNILGGTVFREPIICKNIPRLV	GTIRNILGGTVFWEPIICKNIPRLV	6.0	7.0	unscreened	-	3881_15:90631908-90631908 G>A_GTIRNILGGTVFWEPIICKNIPRLV
11:99941242-99941242 C>T	0.0	3881	MELANOMA	-	-	-	-	CNTN5	ENST00000528682,p.P417S|ENST00000418526,p.P343S|ENST00000527185,p.P417S|ENST00000279463,p.P417S|uc009ywv.2,p.P417S|uc001pga.3,p.P417S|uc021qpc.1,p.P343S|ENST00000524871,p.P417S|NM_014361,p.P417S|uc021qpb.1,p.P417S|NM_175566,p.P343S|uc001pfz.3,p.P417S|NM_001243270,p.P417S|NM_001243271,p.P417S	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon8	c.C1027T	p.P343S	SPLRWECKATGKPRPTYRWLKNGVP	SPLRWECKATGKSRPTYRWLKNGVP	1.0	10.0	unscreened	-	3881_11:99941242-99941242 C>T_SPLRWECKATGKSRPTYRWLKNGVP
20:5282867-5282867 T>C	0.0	3881	MELANOMA	-	-	-	-	PROKR2	uc010zqx.2,p.N325S|uc010zqy.2,p.N325S|uc010zqw.2,p.N325S|ENST00000217270,p.N325S|NM_144773,p.N325S|ENST00000546004,p.N325S	protein_coding	uc010zqy.2	nonsynonymous SNV	exon3	c.A974G	p.N325S	TAFYVVECIAMSNSMINTVCFVTVK	TAFYVVECIAMSSSMINTVCFVTVK	1.0	2.0	unscreened	-	3881_20:5282867-5282867 T>C_TAFYVVECIAMSSSMINTVCFVTVK
20:58544034-58544034 G>A	0.0	3881	MELANOMA	-	-	-	-	CDH26	ENST00000348616,p.D28N|uc002ybe.3,p.D28N|ENST00000244047,p.D28N|NM_177980,p.D28N	protein_coding, processed_transcript	uc002ybe.3	nonsynonymous SNV	exon2	c.G82A	p.D28N	VLLLWLLQVSIIDSVQQETDDLTKQ	VLLLWLLQVSIINSVQQETDDLTKQ	3.0	5.0	unscreened	-	3881_20:58544034-58544034 G>A_VLLLWLLQVSIINSVQQETDDLTKQ
3:192053151-192053151 G>A	0.0	3881	MELANOMA	-	-	-	-	FGF12	uc003fsy.3,p.S76L|uc003fsx.3,p.S138L|ENST00000418610,p.S76L|ENST00000454309,p.S138L|ENST00000450716,p.S76L|ENST00000445105,p.S76L|NM_004113,p.S76L|ENST00000448795,p.S52L|NM_021032,p.S138L|ENST00000430714,p.S39L|ENST00000264730,p.S76L	retained_intron, protein_coding, processed_transcript	uc003fsy.3	nonsynonymous SNV	exon4	c.C227T	p.S76L	YVAMNGEGYLYSSDVFTPECKFKES	YVAMNGEGYLYSLDVFTPECKFKES	3.0	8.0	unscreened	-	3881_3:192053151-192053151 G>A_YVAMNGEGYLYSLDVFTPECKFKES
16:26147193-26147193 G>A	0.0	3881	MELANOMA	-	-	ID=COSM969180,COSM969181;OCCURENCE=1(large_intestine),1(endometrium)	-	HS3ST4	uc002dof.3,p.R332Q|ENST00000331351,p.R332Q|NM_006040,p.R332Q	protein_coding, processed_transcript	uc002dof.3	nonsynonymous SNV	exon2	c.G995A	p.R332Q	TLGLIDASWSAIRIGIYALHLENWL	TLGLIDASWSAIQIGIYALHLENWL	1.0	7.0	unscreened	-	3881_16:26147193-26147193 G>A_TLGLIDASWSAIQIGIYALHLENWL
11:123777217-123777217 C>T	0.0	3881	MELANOMA	-	-	-	-	OR8D4	uc010saa.2,p.L27F|NM_001005197,p.L27F|ENST00000321355,p.L27F	protein_coding	uc010saa.2	nonsynonymous SNV	exon1	c.C79T	p.L27F	SGLTEQAELQLPLFCLFLGIYTVTV	SGLTEQAELQLPFFCLFLGIYTVTV	1.0	5.0	unscreened	-	3881_11:123777217-123777217 C>T_SGLTEQAELQLPFFCLFLGIYTVTV
20:9523352-9523352 G>A	0.0	3881	MELANOMA	-	-	-	-	PAK7	ENST00000353224,p.L629F|NM_177990,p.L629F|uc002wnk.2,p.L629F|NM_020341,p.L629F|ENST00000378423,p.L629F|uc002wnj.2,p.L629F|ENST00000378429,p.L629F|uc002wnl.2,p.L629F	protein_coding	uc002wnl.2	nonsynonymous SNV	exon10	c.C1885T	p.L629F	RLPYGTEVDIWSLGIMVIEMIDGEP	RLPYGTEVDIWSFGIMVIEMIDGEP	1.0	2.0	unscreened	-	3881_20:9523352-9523352 G>A_RLPYGTEVDIWSFGIMVIEMIDGEP
10:124036397-124036397 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1703192;OCCURENCE=1(skin)	-	BTBD16	ENST00000260723,p.S37F|uc001lgd.1,p.S36F|uc001lgc.1,p.S37F|ENST00000368994,p.S38F|NM_144587,p.S37F	protein_coding, processed_transcript	uc001lgd.1	nonsynonymous SNV	exon3	c.C107T	p.S36F	PKQPFSGDLLSLSQMCKALSIDFEE	PKQPFSGDLLSLFQMCKALSIDFEE	1.0	8.0	unscreened	-	3881_10:124036397-124036397 C>T_PKQPFSGDLLSLFQMCKALSIDFEE
1:12837601-12837601 G>A	0.0	3881	MELANOMA	-	-	-	-	PRAMEF12	uc001aui.3,p.M437I|NM_001080830,p.M437I|ENST00000357726,p.M437I	protein_coding	uc001aui.3	nonsynonymous SNV	exon3	c.G1311A	p.M437I	CWGRFSQLGAELMKTLRDLRQPKII	CWGRFSQLGAELIKTLRDLRQPKII	1.0	5.0	unscreened	-	3881_1:12837601-12837601 G>A_CWGRFSQLGAELIKTLRDLRQPKII
16:64981661-64981661 C>T	0.0	3881	MELANOMA	-	-	-	1	CDH11	uc010vin.2,p.E620K|uc002eoi.3,p.E746K|ENST00000268603,p.E746K|ENST00000566827,p.E620K|NM_001797,p.E746K	retained_intron, protein_coding, processed_transcript	uc010vin.2	nonsynonymous SNV	exon12	c.G1858A	p.E620K	APPYDSIQIYGYEGRGSVAGSLSSL	APPYDSIQIYGYKGRGSVAGSLSSL	8.0	6.0	unscreened	-	3881_16:64981661-64981661 C>T_APPYDSIQIYGYKGRGSVAGSLSSL
17:48741100-48741100 G>A	0.0	3881	MELANOMA	-	-	ID=COSM189483;OCCURENCE=1(large_intestine)	-	ABCC3	ENST00000502426,p.G371D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000502426	nonsynonymous SNV	exon9	c.G1112A	p.G371D	QPHGPLLVGLPGGWADVPVLHDAVA	QPHGPLLVGLPGDWADVPVLHDAVA	5.0	9.0	unscreened	-	3881_17:48741100-48741100 G>A_QPHGPLLVGLPGDWADVPVLHDAVA
10:61926585-61926585 C>T	0.0	3881	MELANOMA	-	-	-	-	ANK3	NM_001204404,p.E833K|NM_020987,p.E850K|ENST00000503366,p.E833K|NM_001204403,p.E844K|uc001jkx.3,p.E28K|ENST00000280772,p.E850K|uc001jkz.4,p.E844K|uc001jky.3,p.E850K|ENST00000373827,p.E844K|uc010qih.2,p.E833K|ENST00000474360,p.E24K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qih.2	nonsynonymous SNV	exon22	c.G2497A	p.E833K	ETMNEVLDMSDDEVRKANAPEMLSD	ETMNEVLDMSDDKVRKANAPEMLSD	3.0	1.0	unscreened	-	3881_10:61926585-61926585 C>T_ETMNEVLDMSDDKVRKANAPEMLSD
11:118529108-118529108 C>T	1.0	3881	MELANOMA	-	-	-	-	TREH	ENST00000529101,p.D548N|uc001ptz.1,p.D425N|uc009zaj.1,p.D517N|ENST00000264029,p.D548N|ENST00000525958,p.D517N|ENST00000397925,p.D517N|ENST00000530256,p.D425N	retained_intron, protein_coding	uc009zaj.1	nonsynonymous SNV	exon14	c.G1549A	p.D517N	FGWTNGVVLMLLDRYGDRLTSGPKL	FGWTNGVVLMLLNRYGDRLTSGPKL	1.0	2.0	unscreened	-	3881_11:118529108-118529108 C>T_FGWTNGVVLMLLNRYGDRLTSGPKL
3:51897363-51897363 C>T	0.0	3881	MELANOMA	-	-	-	-	IQCF2	ENST00000333127,p.H158Y|NM_203424,p.H158Y|uc003dbt.1,p.H158Y	protein_coding, processed_transcript	uc003dbt.1	nonsynonymous SNV	exon3	c.C472T	p.H158Y	GHCVVTATHLQFHIEIINS	GHCVVTATHLQFYIEIINS	1.0	1.0	unscreened	-	3881_3:51897363-51897363 C>T_GHCVVTATHLQFYIEIINS
2:21225680-21225680 G>A	0.0	3881	MELANOMA	-	-	-	-	APOB	ENST00000233242,p.P4205L|NM_000384,p.P4205L|uc002red.3,p.P4205L	protein_coding	uc002red.3	nonsynonymous SNV	exon29	c.C12614T	p.P4205L	LIDFLNFPRFQFPGKPGIYTREELC	LIDFLNFPRFQFLGKPGIYTREELC	1.0	1.0	unscreened	-	3881_2:21225680-21225680 G>A_LIDFLNFPRFQFLGKPGIYTREELC
X:123540302-123540302 G>A	0.0	3881	MELANOMA	-	-	-	-	TENM1	NM_001163279,p.P1673S|NM_001163278,p.P1674S|ENST00000371130,p.P1667S|ENST00000422452,p.P1674S|NM_014253,p.P1667S|uc011muj.2,p.P1673S|uc010nqy.3,p.P1674S|uc004euj.3,p.P1667S	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon26	c.C5017T	p.P1673S	YDPEGHLTNATFPTGEVSSFHSDLE	YDPEGHLTNATFSTGEVSSFHSDLE	2.0	6.0	unscreened	-	3881_X:123540302-123540302 G>A_YDPEGHLTNATFSTGEVSSFHSDLE
9:135374956-135374956 C>T	0.0	3881	MELANOMA	-	-	-	-	C9orf171	ENST00000343036,p.P201S|NM_001282957,p.P165S|uc004cbo.3,p.P165S|NM_207417,p.P201S|ENST00000393216,p.P165S|uc004cbn.3,p.P201S	protein_coding	uc004cbo.3	nonsynonymous SNV	exon3	c.C493T	p.P165S	DDRRMKKEPPPLPPNMTFGIRARPS	DDRRMKKEPPPLSPNMTFGIRARPS	1.0	10.0	unscreened	-	3881_9:135374956-135374956 C>T_DDRRMKKEPPPLSPNMTFGIRARPS
3:108129532-108129532 C>T	0.0	3881	MELANOMA	-	-	-	-	MYH15	ENST00000273353,p.E1485K|NM_014981,p.E1485K|uc003dxa.1,p.E1485K	retained_intron, protein_coding, processed_transcript	uc003dxa.1	nonsynonymous SNV	exon32	c.G4453A	p.E1485K	EESQALLDASQKEVQALSTELLKLK	EESQALLDASQKKVQALSTELLKLK	2.0	10.0	unscreened	-	3881_3:108129532-108129532 C>T_EESQALLDASQKKVQALSTELLKLK
2:32475999-32475999 C>T	0.0	3881	MELANOMA	-	-	-	-	NLRC4	NM_001199139,p.V312M|uc002roj.2,p.V312M|ENST00000402280,p.V312M|uc021vfq.1,p.V312M|NM_001199138,p.V312M|uc002roi.3,p.V312M|ENST00000404025,p.V312M|NM_021209,p.V312M|ENST00000360906,p.V312M	protein_coding	uc021vfq.1	nonsynonymous SNV	exon4	c.G934A	p.V312M	MTEDSAQALIREVLIKELAEGLLLQ	MTEDSAQALIREMLIKELAEGLLLQ	3.0	9.0	unscreened	-	3881_2:32475999-32475999 C>T_MTEDSAQALIREMLIKELAEGLLLQ
2:103274193-103274193 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC9A2	uc002tca.3,p.G154S|NM_003048,p.G154S|ENST00000233969,p.G154S	retained_intron, protein_coding, processed_transcript	uc002tca.3	nonsynonymous SNV	exon2	c.G460A	p.G154S	FLYLLPPIVLDAGYFMPTRPFFENI	FLYLLPPIVLDASYFMPTRPFFENI	1.0	8.0	unscreened	-	3881_2:103274193-103274193 G>A_FLYLLPPIVLDASYFMPTRPFFENI
12:70087483-70087483 A>T	0.0	3881	MELANOMA	-	-	-	-	BEST3	ENST00000393365,p.F45Y|NM_001282616,p.F45Y|ENST00000551160,p.F45Y|ENST00000266661,p.F45Y|NM_001282615,p.F45Y	protein_coding, processed_transcript, nonsense_mediated_decay	NM_001282616	nonsynonymous SNV	exon3	c.T134A	p.F45Y	IFRSVSTAVYKRFPTMDHVVEAERT	IFRSVSTAVYKRYPTMDHVVEAERT	2.0	2.0	unscreened	-	3881_12:70087483-70087483 A>T_IFRSVSTAVYKRYPTMDHVVEAERT
4:155219765-155219765 G>A	0.0	3881	MELANOMA	-	-	-	-	DCHS2	ENST00000357232,p.L1446F|uc003inw.2,p.L1446F|NM_017639,p.L1446F	protein_coding, processed_transcript	uc003inw.2	nonsynonymous SNV	exon18	c.C4336T	p.L1446F	RALDREQISNFTLVILCSDLGDPPR	RALDREQISNFTFVILCSDLGDPPR	1.0	10.0	unscreened	-	3881_4:155219765-155219765 G>A_RALDREQISNFTFVILCSDLGDPPR
3:140785436-140785436 T>G	0.0	3881	MELANOMA	-	-	-	-	SPSB4	uc010hum.3,p.F164V|uc003ett.3,p.F164V|NM_080862,p.F164V|ENST00000310546,p.F164V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hum.3	nonsynonymous SNV	exon1	c.T490G	p.F164V	DGKNQPGVAYPAFLGPDEAFALPDS	DGKNQPGVAYPAVLGPDEAFALPDS	1.0	9.0	unscreened	-	3881_3:140785436-140785436 T>G_DGKNQPGVAYPAVLGPDEAFALPDS
6:49754054-49754054 G>A	0.0	3881	MELANOMA	-	-	-	-	PGK2	NM_138733,p.P283S|uc003ozu.3,p.P283S|ENST00000304801,p.P283S	protein_coding	uc003ozu.3	nonsynonymous SNV	exon1	c.C847T	p.P283S	AKAQKNGVRITFPVDFVTGDKFDEN	AKAQKNGVRITFSVDFVTGDKFDEN	1.0	8.0	unscreened	-	3881_6:49754054-49754054 G>A_AKAQKNGVRITFSVDFVTGDKFDEN
2:166170431-166170431 A>G	0.0	3881	MELANOMA	-	-	-	-	SCN2A	ENST00000375427,p.K399R|ENST00000283256,p.K399R|ENST00000375437,p.K399R|uc002ude.3,p.K399R|NM_001040142,p.K399R|uc002udc.3,p.K399R|NM_021007,p.K399R|NM_001040143,p.K399R|ENST00000357398,p.K399R|ENST00000424833,p.K399R|uc002udd.3,p.K399R	retained_intron, protein_coding	uc002ude.3	nonsynonymous SNV	exon9	c.A1196G	p.K399R	ENLYQLTLRAAGKTYMIFFVLVIFL	ENLYQLTLRAAGRTYMIFFVLVIFL	1.0	4.0	unscreened	-	3881_2:166170431-166170431 A>G_ENLYQLTLRAAGRTYMIFFVLVIFL
7:88963717-88963717 G>A	0.0	3881	MELANOMA	-	-	-	-	ZNF804B	uc011khi.2,p.G474D|ENST00000333190,p.G474D|NM_181646,p.G474D	protein_coding	uc011khi.2	nonsynonymous SNV	exon4	c.G1421A	p.G474D	LLFTKTEPCISYGCNPLYFDFKLSR	LLFTKTEPCISYDCNPLYFDFKLSR	1.0	6.0	unscreened	-	3881_7:88963717-88963717 G>A_LLFTKTEPCISYDCNPLYFDFKLSR
9:135374956-135374956 C>T	0.0	3881	MELANOMA	-	-	-	-	C9orf171	ENST00000393215,p.P165S	protein_coding	ENST00000393215	nonsynonymous SNV	exon3	c.C493T	p.P165S	DDRRMKKEPPPLPPNMTFGIRARKL	DDRRMKKEPPPLSPNMTFGIRARKL	1.0	10.0	unscreened	-	3881_9:135374956-135374956 C>T_DDRRMKKEPPPLSPNMTFGIRARKL
2:241991541-241991541 C>T	0.0	3881	MELANOMA	-	-	-	-	SNED1	ENST00000405547,p.P646S|ENST00000401884,p.P646S|NM_001080437,p.P646S|ENST00000310397,p.P646S|uc002wah.1,p.P646S|ENST00000342631,p.P646S	retained_intron, protein_coding, processed_transcript	uc002wah.1	nonsynonymous SNV	exon14	c.C1936T	p.P646S	CFHYIGKYKCDCPPGFSGRHCEIAP	CFHYIGKYKCDCSPGFSGRHCEIAP	5.0	3.0	unscreened	-	3881_2:241991541-241991541 C>T_CFHYIGKYKCDCSPGFSGRHCEIAP
2:220331985-220331985 G>A	0.0	3881	MELANOMA	-	-	-	-	SPEG	NM_005876,p.V991M|ENST00000312358,p.V991M|uc010fwg.3,p.V991M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon10	c.G2971A	p.V991M	VGAGEMALFECLVAGPTDVEVDWLC	VGAGEMALFECLMAGPTDVEVDWLC	2.0	6.0	unscreened	-	3881_2:220331985-220331985 G>A_VGAGEMALFECLMAGPTDVEVDWLC
10:70139220-70139220 G>T	1.0	3881	MELANOMA	-	-	ID=COSM3397212,COSM3397213;OCCURENCE=1(central_nervous_system)	-	RUFY2	ENST00000388768,p.T424N|ENST00000399200,p.T355N|ENST00000602465,p.T389N|ENST00000454950,p.T331N|uc001job.3,p.T424N|uc010qiw.2,p.T331N|NM_017987,p.T424N|NM_001042417,p.T355N|uc001joc.3,p.T355N|NM_001278225,p.T331N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qiw.2	nonsynonymous SNV	exon11	c.C992A	p.T331N	EKNEIIARLEEKTNKITAAMRQLEQ	EKNEIIARLEEKNNKITAAMRQLEQ	8.0	2.0	unscreened	-	3881_10:70139220-70139220 G>T_EKNEIIARLEEKNNKITAAMRQLEQ
3:38141795-38141795 G>A	0.0	3881	MELANOMA	-	-	-	-	DLEC1	uc003cho.1,p.E915K|uc003chr.1,p.E21K|ENST00000452631,p.E915K|ENST00000308059,p.E915K|ENST00000346219,p.E915K|uc010hgv.1,p.E915K|NM_007335,p.E915K|uc003chp.1,p.E915K|NM_007337,p.E915K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hgv.1	nonsynonymous SNV	exon19	c.G2743A	p.E915K	QERPEDVSPFDIEPSSGQLHSLGEC	QERPEDVSPFDIKPSSGQLHSLGEC	3.0	2.0	unscreened	-	3881_3:38141795-38141795 G>A_QERPEDVSPFDIKPSSGQLHSLGEC
2:179486322-179486322 C>T	0.0	3881	MELANOMA	-	-	-	-	TTN	ENST00000591111,p.E13436K|ENST00000359218,p.E6137K|NM_133437,p.E6204K|ENST00000342992,p.E12509K|NM_001267550,p.E15077K|NM_003319,p.E6012K|NM_133432,p.E6137K|NM_001256850,p.E13436K|NM_133378,p.E12509K|uc021vtb.2,p.E6012K|uc021vsy.2,p.E12509K|uc021vta.2,p.E6137K|ENST00000460472,p.E6012K|ENST00000589042,p.E15077K|uc031rqd.1,p.E13436K|uc021vsz.2,p.E6204K|uc031rqc.1,p.E15077K|ENST00000342175,p.E6204K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon195	c.G40306A	p.E13436K	KGDEEIIETGRYEILTEGRKRILVI	KGDEEIIETGRYKILTEGRKRILVI	2.0	9.0	unscreened	-	3881_2:179486322-179486322 C>T_KGDEEIIETGRYKILTEGRKRILVI
19:56539074-56539074 C>T	0.0	3881	MELANOMA	-	-	-	-	NLRP5	ENST00000390649,p.A492V|uc002qmi.3,p.A473V|uc002qmj.3,p.A492V|NM_153447,p.A492V	protein_coding, nonsense_mediated_decay	uc002qmj.3	nonsynonymous SNV	exon7	c.C1475T	p.A492V	ALQLQDVVGESVAPFNQTLTGLHAA	ALQLQDVVGESVVPFNQTLTGLHAA	1.0	6.0	unscreened	-	3881_19:56539074-56539074 C>T_ALQLQDVVGESVVPFNQTLTGLHAA
2:185800778-185800778 C>T	0.0	3881	MELANOMA	-	-	-	-	ZNF804A	uc002uph.3,p.P219S|NM_194250,p.P219S|ENST00000302277,p.P219S	protein_coding	uc002uph.3	nonsynonymous SNV	exon4	c.C655T	p.P219S	IHRHKIGFSFAFPKKASVKLESSAA	IHRHKIGFSFAFSKKASVKLESSAA	2.0	2.0	unscreened	-	3881_2:185800778-185800778 C>T_IHRHKIGFSFAFSKKASVKLESSAA
5:110818624-110818624 C>T	0.0	3881	MELANOMA	-	-	-	-	CAMK4	uc003kpf.3,p.R324C|NM_001744,p.R324C|ENST00000282356,p.R324C|uc010jbv.3,p.R127C|uc003kpg.3,p.R15C|ENST00000512453,p.R324C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jbv.3	nonsynonymous SNV	exon8	c.C379T	p.R127C	TAQKKLQEFNARRKLKAAVKAVVAS	TAQKKLQEFNARCKLKAAVKAVVAS	5.0	3.0	unscreened	-	3881_5:110818624-110818624 C>T_TAQKKLQEFNARCKLKAAVKAVVAS
6:100841759-100841759 C>T	0.0	3881	MELANOMA	-	-	-	-	SIM1	ENST00000369208,p.G392R|uc003pqj.4,p.G392R|ENST00000262901,p.G392R|uc021zdg.1,p.G392R|NM_005068,p.G392R|uc010kcu.3,p.G392R	retained_intron, protein_coding	uc021zdg.1	nonsynonymous SNV	exon10	c.G1174A	p.G392R	SKSRTSPYPQYSGFHTERSESDHDS	SKSRTSPYPQYSRFHTERSESDHDS	2.0	10.0	unscreened	-	3881_6:100841759-100841759 C>T_SKSRTSPYPQYSRFHTERSESDHDS
3:54919331-54919331 G>A	0.0	3881	MELANOMA	-	-	-	-	CACNA2D3	ENST00000474759,p.D646N|ENST00000288197,p.D646N|ENST00000490478,p.D552N|uc003dhf.3,p.D646N|NM_018398,p.D646N|uc010hmv.1,p.D380N|ENST00000415676,p.D646N|uc003dhg.1,p.D552N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hmv.1	nonsynonymous SNV	exon20	c.G1138A	p.D380N	TIEEGLHDLEHPDVSLADEWSYCNT	TIEEGLHDLEHPNVSLADEWSYCNT	1.0	1.0	unscreened	-	3881_3:54919331-54919331 G>A_TIEEGLHDLEHPNVSLADEWSYCNT
12:70087483-70087483 A>T	0.0	3881	MELANOMA	-	-	-	-	BEST3	ENST00000547208,p.F23Y|ENST00000331471,p.F151Y|uc001svg.3,p.F151Y|ENST00000552295,p.F45Y|uc010stm.2,p.F45Y|NM_001282614,p.F151Y|uc001svd.2,p.F151Y|ENST00000553096,p.F45Y|NM_032735,p.F151Y|NM_001282613,p.F45Y|ENST00000330891,p.F151Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010stm.2	nonsynonymous SNV	exon2	c.T134A	p.F45Y	IFRSVSTAVYKRFPTMDHVVEAGFM	IFRSVSTAVYKRYPTMDHVVEAGFM	2.0	2.0	unscreened	-	3881_12:70087483-70087483 A>T_IFRSVSTAVYKRYPTMDHVVEAGFM
8:1497230-1497230 G>A	0.0	3881	MELANOMA	-	-	-	-	DLGAP2	uc003wpl.4,p.R124Q|ENST00000421627,p.R124Q|uc003wpm.4,p.R124Q|NM_004745,p.R124Q|NM_001277161,p.R124Q	retained_intron, protein_coding, processed_transcript	uc003wpm.4	nonsynonymous SNV	exon2	c.G371A	p.R124Q	LLDQFEKQLPLHRDGFHTLQYQRTS	LLDQFEKQLPLHQDGFHTLQYQRTS	2.0	2.0	unscreened	-	3881_8:1497230-1497230 G>A_LLDQFEKQLPLHQDGFHTLQYQRTS
X:84526526-84526526 T>A	0.0	3881	MELANOMA	-	-	-	-	ZNF711	ENST00000395402,p.F668I|uc004eep.3,p.F660I|uc011mqy.1,p.F259I|uc004eeq.3,p.F706I|NM_021998,p.F660I|ENST00000373165,p.F660I|ENST00000360700,p.F706I|ENST00000276123,p.F660I|ENST00000542798,p.F502I|uc004eeo.3,p.F660I	protein_coding	uc011mqy.1	nonsynonymous SNV	exon3	c.T775A	p.F259I	QCRHCDFKTSDPFILSGHILSVHTK	QCRHCDFKTSDPIILSGHILSVHTK	2.0	5.0	unscreened	-	3881_X:84526526-84526526 T>A_QCRHCDFKTSDPIILSGHILSVHTK
2:21231015-21231015 C>T	0.0	3881	MELANOMA	0.0005	-	ID=COSM3391445;OCCURENCE=1(pancreas)	-	APOB	ENST00000233242,p.E2909K|NM_000384,p.E2909K|uc002red.3,p.E2909K	protein_coding	uc002red.3	nonsynonymous SNV	exon26	c.G8725A	p.E2909K	KLDFSSQADLRNEIKTLLKAGHIAW	KLDFSSQADLRNKIKTLLKAGHIAW	1.0	4.0	unscreened	-	3881_2:21231015-21231015 C>T_KLDFSSQADLRNKIKTLLKAGHIAW
X:12904592-12904592 C>T	0.0	3881	MELANOMA	-	-	-	-	TLR7	NM_016562,p.S322F|ENST00000380659,p.S322F|uc004cvc.3,p.S322F	protein_coding, processed_transcript	uc004cvc.3	nonsynonymous SNV	exon3	c.C965T	p.S322F	FKNINKLQELDLSQNFLAKEIGDAK	FKNINKLQELDLFQNFLAKEIGDAK	4.0	10.0	unscreened	-	3881_X:12904592-12904592 C>T_FKNINKLQELDLFQNFLAKEIGDAK
10:7762837-7762837 G>A	0.0	3881	MELANOMA	-	-	-	-	ITIH2	ENST00000379587,p.E206K|ENST00000429820,p.E192K|NM_002216,p.E217K|uc001ijs.3,p.E217K|ENST00000358415,p.E217K	retained_intron, protein_coding, processed_transcript	uc001ijs.3	nonsynonymous SNV	exon7	c.G649A	p.E217K	LAKHLEVDVWVIEPQGLRFLHVPDT	LAKHLEVDVWVIKPQGLRFLHVPDT	1.0	5.0	unscreened	-	3881_10:7762837-7762837 G>A_LAKHLEVDVWVIKPQGLRFLHVPDT
4:100203541-100203541 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1694716;OCCURENCE=1(skin)	-	ADH1A	uc003hur.2,p.D264N|NM_000667,p.D264N|ENST00000209668,p.D264N	retained_intron, protein_coding, processed_transcript	uc003hur.2	nonsynonymous SNV	exon6	c.G790A	p.D264N	QEVLKEMTDGGVDFSFEVIGRLDTM	QEVLKEMTDGGVNFSFEVIGRLDTM	1.0	10.0	unscreened	-	3881_4:100203541-100203541 C>T_QEVLKEMTDGGVNFSFEVIGRLDTM
17:76487572-76487572 C>T	0.0	3881	MELANOMA	-	-	-	-	DNAH17	ENST00000389840,p.D2194N|uc010dhp.2,p.D2208N|NM_173628,p.D2208N|ENST00000585328,p.D2203N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon43	c.G6622A	p.D2208N	DGPKWIILDGDIDPMWIESLNTVMD	DGPKWIILDGDINPMWIESLNTVMD	1.0	3.0	unscreened	-	3881_17:76487572-76487572 C>T_DGPKWIILDGDINPMWIESLNTVMD
12:7982444-7982444 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC2A14	ENST00000539924,p.G182E|uc001qtm.3,p.G144E|uc001qtn.3,p.G167E|ENST00000396589,p.G167E|ENST00000535295,p.G58E|NM_153449,p.G167E|uc010sgh.2,p.G182E|NM_001286234,p.G144E|NM_001286237,p.G182E|ENST00000546234,p.G144E|uc001qtk.3,p.G167E|ENST00000543909,p.G167E|uc010sgg.2,p.G58E|NM_001286236,p.G58E|NM_001286235,p.G144E|ENST00000542546,p.G58E|NM_001286233,p.G167E|ENST00000431042,p.G144E|ENST00000340749,p.G144E|uc001qtl.3,p.G144E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgh.2	nonsynonymous SNV	exon4	c.G545A	p.G182E	CGLCTGFVPMYIGEISPTALRGAFG	CGLCTGFVPMYIEEISPTALRGAFG	5.0	3.0	unscreened	-	3881_12:7982444-7982444 C>T_CGLCTGFVPMYIEEISPTALRGAFG
X:140994211-140994211 C>T	0.0	3881	MELANOMA	-	-	ID=COSM488035;OCCURENCE=1(kidney)	-	MAGEC1	uc004fbt.3,p.P341S|NM_005462,p.P341S|ENST00000285879,p.P341S	protein_coding	uc004fbt.3	nonsynonymous SNV	exon4	c.C1021T	p.P341S	TFEGFPQSLLQIPMTSSFSSTLLSI	TFEGFPQSLLQISMTSSFSSTLLSI	3.0	4.0	unscreened	-	3881_X:140994211-140994211 C>T_TFEGFPQSLLQISMTSSFSSTLLSI
5:33467731-33467731 G>A	1.0	3881	MELANOMA	-	-	-	-	TARS	uc003jhy.4,p.G697E|ENST00000265112,p.G697E|NM_001258437,p.G697E|ENST00000455217,p.G730E|uc010iup.2,p.G638E|ENST00000502553,p.G697E|NM_001258438,p.G730E|ENST00000541634,p.G593E|ENST00000414361,p.G576E|uc011coc.3,p.G730E|uc011cod.3,p.G576E|NM_152295,p.G697E|uc031sja.1,p.G697E|uc003jhz.4,p.G593E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sja.1	nonsynonymous SNV	exon20	c.G2090A	p.G697E	TVNIRTRDNKVHGERTISETIERLQ	TVNIRTRDNKVHEERTISETIERLQ	10.0	1.0	unscreened	-	3881_5:33467731-33467731 G>A_TVNIRTRDNKVHEERTISETIERLQ
15:55838837-55838837 G>A	0.0	3881	MELANOMA	-	-	-	-	PYGO1	uc010bfl.1,p.P215L|uc002adf.1,p.P215L|ENST00000563719,p.P215L|NM_015617,p.P215L|ENST00000302000,p.P215L	protein_coding	uc010bfl.1	nonsynonymous SNV	exon3	c.C644T	p.P215L	NFVPGNNSNFTSPLESNHSFIPPPN	NFVPGNNSNFTSLLESNHSFIPPPN	2.0	9.0	unscreened	-	3881_15:55838837-55838837 G>A_NFVPGNNSNFTSLLESNHSFIPPPN
15:57731779-57731779 C>T	0.0	3881	MELANOMA	-	-	-	-	CGNL1	uc002aeg.3,p.P528S|ENST00000281282,p.P528S|NM_032866,p.P528S|uc010bfw.3,p.P528S|NM_001252335,p.P528S	protein_coding, processed_transcript	uc010bfw.3	nonsynonymous SNV	exon3	c.C1582T	p.P528S	DSGAKKISVKTFPSASNTQATPDLL	DSGAKKISVKTFSSASNTQATPDLL	2.0	1.0	unscreened	-	3881_15:57731779-57731779 C>T_DSGAKKISVKTFSSASNTQATPDLL
6:51934323-51934323 G>A	0.0	3881	MELANOMA	-	-	-	-	PKHD1	uc003pah.1,p.S237L|ENST00000340994,p.S237L|NM_170724,p.S237L|ENST00000371117,p.S237L|NM_138694,p.S237L|uc003pai.3,p.S237L	protein_coding	uc003pai.3	nonsynonymous SNV	exon11	c.C710T	p.S237L	QNVSFSVFNKGKSMVHKKAWLISAK	QNVSFSVFNKGKLMVHKKAWLISAK	1.0	9.0	unscreened	-	3881_6:51934323-51934323 G>A_QNVSFSVFNKGKLMVHKKAWLISAK
4:166243193-166243193 T>G	0.0	3881	MELANOMA	-	-	-	-	KLHL2	uc003irb.3,p.V588G|NM_001161522,p.V500G|ENST00000538127,p.V500G|NM_007246,p.V588G|NM_001161521,p.V592G|ENST00000421009,p.V491G|ENST00000506761,p.V422G|uc011cjm.2,p.V592G|ENST00000226725,p.V588G|uc003irc.3,p.V500G|ENST00000514860,p.V592G	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cjm.2	nonsynonymous SNV	exon15	c.T1775G	p.V592G	CMSTGRSYAGVTVIDKPL	CMSTGRSYAGVTGIDKPL	5.0	3.0	unscreened	-	3881_4:166243193-166243193 T>G_CMSTGRSYAGVTGIDKPL
19:5917826-5917826 G>A	1.0	3881	MELANOMA	-	-	-	-	RANBP3	NM_003624,p.P542S|ENST00000034275,p.P479S|ENST00000591092,p.P474S|uc002mdv.3,p.P266S|uc010xix.2,p.P419S|ENST00000541471,p.P419S|ENST00000340578,p.P547S|uc002mdz.3,p.P474S|NM_007320,p.P479S|uc002mdy.3,p.P479S|NM_007322,p.P547S|ENST00000439268,p.P542S|NM_001300865,p.P474S|uc002mdw.3,p.P547S|uc010duq.3,p.P452S|uc002mdx.3,p.P542S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xix.2	nonsynonymous SNV	exon12	c.C1255T	p.P419S	EEDDSDDDDVLAPSGATAAGAGDEG	EEDDSDDDDVLASSGATAAGAGDEG	10.0	5.0	unscreened	-	3881_19:5917826-5917826 G>A_EEDDSDDDDVLASSGATAAGAGDEG
6:7569543-7569543 C>T	0.0	3881	MELANOMA	-	-	-	-	DSP	uc003mxp.1,p.P515L|uc021yle.1,p.P515L|ENST00000418664,p.P515L|uc003mxq.1,p.P515L|NM_001008844,p.P515L|NM_004415,p.P515L|ENST00000379802,p.P515L	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon12	c.C1544T	p.P515L	MLVPSVGLIIPPPNPLAVDLSCKIE	MLVPSVGLIIPPLNPLAVDLSCKIE	3.0	1.0	unscreened	-	3881_6:7569543-7569543 C>T_MLVPSVGLIIPPLNPLAVDLSCKIE
3:164907220-164907220 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1040824;OCCURENCE=1(endometrium)	-	SLITRK3	NM_014926,p.D467N|uc003fej.4,p.D467N|uc021xgy.1,p.D467N|ENST00000475390,p.D467N|ENST00000241274,p.D467N|uc003fek.3,p.D467N	protein_coding	uc021xgy.1	nonsynonymous SNV	exon1	c.G1399A	p.D467N	LPNLKSLFLNGNDIEKLTPGMFRGL	LPNLKSLFLNGNNIEKLTPGMFRGL	1.0	1.0	unscreened	-	3881_3:164907220-164907220 C>T_LPNLKSLFLNGNNIEKLTPGMFRGL
4:3445859-3445859 G>A	0.0	3881	MELANOMA	-	-	-	-	HGFAC	uc010icw.3,p.R190Q|ENST00000511533,p.R190Q|NM_001297439,p.R190Q|uc003ghc.3,p.R190Q|NM_001528,p.R190Q|ENST00000382774,p.R190Q	retained_intron, protein_coding	uc010icw.3	nonsynonymous SNV	exon5	c.G569A	p.R190Q	TQDPQSYHCSCPRAFTGKDCGTEKC	TQDPQSYHCSCPQAFTGKDCGTEKC	1.0	10.0	unscreened	-	3881_4:3445859-3445859 G>A_TQDPQSYHCSCPQAFTGKDCGTEKC
8:54142221-54142221 G>A	0.0	3881	MELANOMA	-	-	-	-	OPRK1	ENST00000520287,p.S260F|uc010lyc.1,p.S171F|uc022aup.1,p.S140F|NM_001282904,p.S171F|ENST00000265572,p.S260F|uc003xri.1,p.S260F|NM_000912,p.S260F|ENST00000524278,p.S171F|uc003xrh.1,p.S260F	protein_coding, nonsense_mediated_decay	uc022aup.1	nonsynonymous SNV	exon3	c.C419T	p.S140F	LMILRLKSVRLLSGSREKDRNLRRI	LMILRLKSVRLLFGSREKDRNLRRI	1.0	8.0	unscreened	-	3881_8:54142221-54142221 G>A_LMILRLKSVRLLFGSREKDRNLRRI
4:47953412-47953412 G>A	0.0	3881	MELANOMA	-	-	-	-	CNGA1	NM_000087,p.S65F|ENST00000504722,p.S65F|ENST00000402813,p.S134F|ENST00000420489,p.S65F|ENST00000544810,p.S65F|uc003gxt.4,p.S65F|uc003gxv.1,p.S65F|ENST00000514170,p.S65F|ENST00000513178,p.S65F|ENST00000358519,p.S65F|NM_001142564,p.S134F|ENST00000514520,p.S65F|uc003gxu.3,p.S134F	retained_intron, protein_coding	uc003gxv.1	nonsynonymous SNV	exon5	c.C194T	p.S65F	EESENENPHARGSFSYKSLRKGGPS	EESENENPHARGFFSYKSLRKGGPS	1.0	9.0	unscreened	-	3881_4:47953412-47953412 G>A_EESENENPHARGFFSYKSLRKGGPS
1:247875270-247875270 G>A	0.0	3881	MELANOMA	-	-	-	-	OR6F1	ENST00000302084,p.S263F|uc001idj.1,p.S263F|NM_001005286,p.S263F	protein_coding	uc001idj.1	nonsynonymous SNV	exon1	c.C788T	p.S263F	WYGSTVFLHVRTSIKDALDLIKAVH	WYGSTVFLHVRTFIKDALDLIKAVH	1.0	9.0	unscreened	-	3881_1:247875270-247875270 G>A_WYGSTVFLHVRTFIKDALDLIKAVH
13:110845252-110845252 C>T	0.0	3881	MELANOMA	-	-	-	-	COL4A1	ENST00000543140,p.G464R|ENST00000375820,p.G464R|uc001vqw.4,p.G464R|NM_001845,p.G464R	protein_coding, processed_transcript	uc001vqw.4	nonsynonymous SNV	exon23	c.G1390A	p.G464R	GFIGEIGEKGQKGESCLICDIDGYR	GFIGEIGEKGQKRESCLICDIDGYR	9.0	5.0	unscreened	-	3881_13:110845252-110845252 C>T_GFIGEIGEKGQKRESCLICDIDGYR
1:110255800-110255800 C>T	0.0	3881	MELANOMA	-	-	-	-	GSTM5	ENST00000369812,p.P58S	protein_coding, processed_transcript	ENST00000369812	nonsynonymous SNV	exon3	c.C172T	p.P58S	WLNEKFKLGLDFPNGMLGSLVAQLS	WLNEKFKLGLDFSNGMLGSLVAQLS	2.0	6.0	unscreened	-	3881_1:110255800-110255800 C>T_WLNEKFKLGLDFSNGMLGSLVAQLS
15:34113557-34113557 A>G	1.0	3881	MELANOMA	-	-	-	-	RYR3	uc010bar.3,p.I3629M|ENST00000389232,p.I3634M|ENST00000415757,p.I3629M|NM_001243996,p.I3629M|NM_001036,p.I3634M|uc001zhi.3,p.I3634M	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon78	c.A10887G	p.I3629M	HERGAAEMVLQMISASKGEMSPMVV	HERGAAEMVLQMMSASKGEMSPMVV	4.0	10.0	-	-	3881_15:34113557-34113557 A>G_HERGAAEMVLQMMSASKGEMSPMVV
X:140996487-140996487 T>A	0.0	3881	MELANOMA	-	-	-	-	MAGEC1	ENST00000285879,p.F1099L|uc010nsl.2,p.F166L|ENST00000406005,p.F166L|uc004fbt.3,p.F1099L|NM_005462,p.F1099L|uc022cfi.1,p.F758L	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.T2274A	p.F758L	FLAMLKNTVPITFPSSYKDALKDVE	FLAMLKNTVPITLPSSYKDALKDVE	3.0	6.0	unscreened	-	3881_X:140996487-140996487 T>A_FLAMLKNTVPITLPSSYKDALKDVE
1:181727095-181727095 G>A	0.0	3881	MELANOMA	-	-	ID=COSM900566,COSM1583837;OCCURENCE=1(endometrium)	-	CACNA1E	uc009wxs.3,p.D1429N|uc001gox.1,p.D674N|NM_000721,p.D1448N|uc001gow.3,p.D1448N|ENST00000526775,p.D1429N|ENST00000367573,p.D1448N|ENST00000360108,p.D1429N|uc009wxt.3,p.D1448N|NM_001205294,p.D1429N|ENST00000357570,p.D1399N|ENST00000358338,p.D1380N|ENST00000367570,p.D1448N|ENST00000367567,p.D1055N|NM_001205293,p.D1448N	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon31	c.G4342A	p.D1448N	ECSLEKNERACIDFAISAKPLTRYM	ECSLEKNERACINFAISAKPLTRYM	2.0	10.0	unscreened	-	3881_1:181727095-181727095 G>A_ECSLEKNERACINFAISAKPLTRYM
3:191861887-191861887 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1693971,COSM1693970;OCCURENCE=1(skin)	-	FGF12	NM_021032,p.E215K|NM_004113,p.E153K|uc003fsy.3,p.E153K|ENST00000454309,p.E215K|uc003fsx.3,p.E215K|ENST00000430714,p.E116K|ENST00000450716,p.E153K|ENST00000445105,p.E153K|ENST00000440901,p.E110K|ENST00000448795,p.E129K|ENST00000264730,p.E153K	retained_intron, protein_coding, processed_transcript	uc003fsy.3	nonsynonymous SNV	exon6	c.G457A	p.E153K	IEVCMYREPSLHEIGEKQGRSRKSS	IEVCMYREPSLHKIGEKQGRSRKSS	3.0	10.0	unscreened	-	3881_3:191861887-191861887 C>T_IEVCMYREPSLHKIGEKQGRSRKSS
10:15256193-15256193 G>A	0.0	3881	MELANOMA	-	-	-	-	FAM171A1	NM_001010924,p.P465L|uc001iob.3,p.P465L|ENST00000378116,p.P465L	protein_coding, processed_transcript	uc001iob.3	nonsynonymous SNV	exon8	c.C1394T	p.P465L	LGKDYHKSVEVFPLKARKSMEREGY	LGKDYHKSVEVFLLKARKSMEREGY	4.0	10.0	unscreened	-	3881_10:15256193-15256193 G>A_LGKDYHKSVEVFLLKARKSMEREGY
6:31842610-31842610 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC44A4	NM_025257,p.S119F|uc010jti.3,p.S119F|ENST00000544672,p.S43F|NM_001178045,p.S43F|ENST00000229729,p.S119F|uc011dol.2,p.S43F	retained_intron, protein_coding, processed_transcript	uc011dol.2	nonsynonymous SNV	exon6	c.C128T	p.S43F	GLQCPTPQVCVSSCPEDPWTVGKNE	GLQCPTPQVCVSFCPEDPWTVGKNE	2.0	8.0	unscreened	-	3881_6:31842610-31842610 G>A_GLQCPTPQVCVSFCPEDPWTVGKNE
3:46621330-46621330 G>A	0.0	3881	MELANOMA	-	-	-	-	TDGF1	NM_003212,p.D109N|uc003cpv.3,p.D109N|NM_001174136,p.D93N|ENST00000542931,p.D93N|ENST00000296145,p.D109N|uc021wxd.1,p.D93N	retained_intron, protein_coding, processed_transcript	uc021wxd.1	nonsynonymous SNV	exon4	c.G277A	p.D93N	CPPSFYGRNCEHDVRKENCGSVPHD	CPPSFYGRNCEHNVRKENCGSVPHD	1.0	1.0	unscreened	-	3881_3:46621330-46621330 G>A_CPPSFYGRNCEHNVRKENCGSVPHD
7:55240749-55240749 G>A	0.0	3881	MELANOMA	-	-	-	1	EGFR	uc003tqk.3,p.G665S|uc022adm.1,p.G665S|ENST00000454757,p.G612S|uc011kco.2,p.G612S|uc022adn.1,p.G620S|ENST00000275493,p.G665S|NM_005228,p.G665S|ENST00000455089,p.G620S|uc010kzg.2,p.G620S	retained_intron, protein_coding, processed_transcript	uc022adn.1	nonsynonymous SNV	exon16	c.G1858A	p.G620S	ALLLLLVVALGIGLFMRRRHIVRKR	ALLLLLVVALGISLFMRRRHIVRKR	3.0	3.0	unscreened	-	3881_7:55240749-55240749 G>A_ALLLLLVVALGISLFMRRRHIVRKR
3:51749086-51749086 C>T	0.0	3881	MELANOMA	-	-	-	-	GRM2	ENST00000395052,p.R433C|uc010hlv.3,p.R433C|ENST00000442933,p.R433C|NM_000839,p.R433C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hlv.3	nonsynonymous SNV	exon4	c.C1297T	p.R433C	DFVLNVKFDAPFRPADTHNEVRFDR	DFVLNVKFDAPFCPADTHNEVRFDR	1.0	1.0	unscreened	-	3881_3:51749086-51749086 C>T_DFVLNVKFDAPFCPADTHNEVRFDR
10:99341121-99341121 G>A	0.0	3881	MELANOMA	-	-	-	-	ANKRD2	ENST00000307518,p.V229M|uc001knw.3,p.V229M|NM_001291218,p.V315M|uc009xvu.3,p.V229M|NM_001129981,p.V229M|NM_020349,p.V229M|ENST00000455090,p.V202M|ENST00000298808,p.V229M|NM_001291219,p.V315M|ENST00000370655,p.V202M	protein_coding	uc009xvu.3	nonsynonymous SNV	exon6	c.G685A	p.V229M	AMHWACRGGHLEVVKLLQSHGADTN	AMHWACRGGHLEMVKLLQSHGADTN	1.0	9.0	unscreened	-	3881_10:99341121-99341121 G>A_AMHWACRGGHLEMVKLLQSHGADTN
19:51961595-51961595 C>T	0.0	3881	MELANOMA	-	-	-	-	SIGLEC8	uc002pwt.3,p.G16E|NM_014442,p.G16E|uc010eox.2,p.G16E|uc010yda.2,p.G16E|ENST00000340550,p.G16E|ENST00000430817,p.G16E|ENST00000321424,p.G16E	retained_intron, protein_coding	uc010yda.2	nonsynonymous SNV	exon1	c.G47A	p.G16E	LLLLLPLLWGTKGMEGDRQYGDGYL	LLLLLPLLWGTKEMEGDRQYGDGYL	2.0	2.0	unscreened	-	3881_19:51961595-51961595 C>T_LLLLLPLLWGTKEMEGDRQYGDGYL
5:35014143-35014143 C>T	0.0	3881	MELANOMA	-	-	-	-	AGXT2	uc003jjf.3,p.A349T|NM_031900,p.A349T|ENST00000231420,p.A349T	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjf.3	nonsynonymous SNV	exon10	c.G1045A	p.A349T	QTHDVLPDIVTMAKGIGNGFPMAAV	QTHDVLPDIVTMTKGIGNGFPMAAV	1.0	8.0	unscreened	-	3881_5:35014143-35014143 C>T_QTHDVLPDIVTMTKGIGNGFPMAAV
13:28609673-28609673 G>A	0.0	3881	MELANOMA	-	-	-	1	FLT3	ENST00000380987,p.S519F|ENST00000537084,p.S519F|ENST00000380982,p.S519F|NM_004119,p.S519F|ENST00000241453,p.S519F|uc010tdn.2,p.S519F|uc001urw.3,p.S519F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdn.2	nonsynonymous SNV	exon12	c.C1556T	p.S519F	IKGFLVKCCAYNSLGTSCETILLNS	IKGFLVKCCAYNFLGTSCETILLNS	3.0	6.0	unscreened	-	3881_13:28609673-28609673 G>A_IKGFLVKCCAYNFLGTSCETILLNS
18:50278670-50278670 G>A	1.0	3881	MELANOMA	-	-	-	2	DCC	ENST00000442544,p.G113E|uc002lfe.2,p.G113E|ENST00000581559,p.G45E|NM_005215,p.G113E|ENST00000582875,p.G47E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lfe.2	nonsynonymous SNV	exon2	c.G338A	p.G113E	NILHSRHHKPDEGLYQCEASLGDSG	NILHSRHHKPDEELYQCEASLGDSG	7.0	8.0	unscreened	-	3881_18:50278670-50278670 G>A_NILHSRHHKPDEELYQCEASLGDSG
4:100057780-100057780 C>T	0.0	3881	MELANOMA	-	-	ID=COSM107470;OCCURENCE=1(skin)	-	ADH4	ENST00000423445,p.G159E|uc011ced.2,p.G159E|ENST00000512499,p.G159E|NM_000670,p.G140E|ENST00000505590,p.G159E|ENST00000508393,p.G159E|uc003hun.3,p.G140E|ENST00000265512,p.G140E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ced.2	nonsynonymous SNV	exon6	c.G476A	p.G159E	LMEDKTSRFTCKGKPVYHFFGTSTF	LMEDKTSRFTCKEKPVYHFFGTSTF	1.0	1.0	unscreened	-	3881_4:100057780-100057780 C>T_LMEDKTSRFTCKEKPVYHFFGTSTF
21:43854990-43854990 G>A	0.0	3881	MELANOMA	-	-	-	-	UBASH3A	ENST00000398367,p.R402Q|ENST00000291535,p.R402Q|NM_001001895,p.R402Q|NM_001243467,p.R402Q|uc002zbf.3,p.R402Q|uc010gpe.3,p.R402Q|uc002zbe.3,p.R440Q|NM_018961,p.R440Q|ENST00000319294,p.R440Q	retained_intron, protein_coding	uc010gpe.3	nonsynonymous SNV	exon9	c.G1205A	p.R402Q	RPDLNFPCSLPRRSRGIKDFENDPP	RPDLNFPCSLPRQSRGIKDFENDPP	4.0	7.0	unscreened	-	3881_21:43854990-43854990 G>A_RPDLNFPCSLPRQSRGIKDFENDPP
4:100057780-100057780 C>T	0.0	3881	MELANOMA	-	-	ID=COSM107470;OCCURENCE=1(skin)	-	ADH4	ENST00000504125,p.G122E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000504125	nonsynonymous SNV	exon5	c.G365A	p.G122E	TNLCGKIRFTCKGKPVYHFFGTSTF	TNLCGKIRFTCKEKPVYHFFGTSTF	1.0	1.0	unscreened	-	3881_4:100057780-100057780 C>T_TNLCGKIRFTCKEKPVYHFFGTSTF
1:206331108-206331108 G>A	0.0	3881	MELANOMA	-	-	-	-	CTSE	ENST00000358184,p.D372N|ENST00000361052,p.D377N|uc001hdu.3,p.D372N|NM_001910,p.D372N	protein_coding, processed_transcript	uc001hdu.3	nonsynonymous SNV	exon9	c.G1114A	p.D372N	IHPPAGPLWILGDVFIRQFYSVFDR	IHPPAGPLWILGNVFIRQFYSVFDR	1.0	10.0	unscreened	-	3881_1:206331108-206331108 G>A_IHPPAGPLWILGNVFIRQFYSVFDR
20:44750937-44750937 G>A	0.0	3881	MELANOMA	-	-	-	-	CD40	uc002xrg.1,p.E66K|ENST00000372276,p.E66K|NM_001250,p.E66K|uc002xrh.1,p.E66K|NM_152854,p.E66K|uc002xrf.1,p.E66K|ENST00000372285,p.E66K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002xrh.1	nonsynonymous SNV	exon3	c.G196A	p.E66K	FTETECLPCGESEFLDTWNRETHCH	FTETECLPCGESKFLDTWNRETHCH	6.0	5.0	unscreened	-	3881_20:44750937-44750937 G>A_FTETECLPCGESKFLDTWNRETHCH
10:84711264-84711264 C>T	0.0	3881	MELANOMA	-	-	-	-	NRG3	NM_001165973,p.S144L|ENST00000545131,p.S15L|uc010qlz.1,p.S364L|uc021pvg.1,p.S169L|NM_001165972,p.S364L|uc001kco.2,p.S365L|uc021pvc.1,p.S365L|uc021pvf.1,p.S15L|ENST00000372142,p.S144L|ENST00000404547,p.S365L|uc021pvd.1,p.S144L|uc001kcp.2,p.S144L|uc001kcq.2,p.S15L|ENST00000372141,p.S365L|NM_001010848,p.S365L|ENST00000556918,p.S195L|ENST00000404576,p.S169L|uc001kcr.2,p.S15L|ENST00000537893,p.S15L|uc021pvi.1,p.S195L|uc021pve.1,p.S169L|uc021pvl.1,p.S15L	protein_coding, nonsense_mediated_decay	uc021pvl.1	nonsynonymous SNV	exon3	c.C44T	p.S15L	SEEVYQRQVLSISCIIFGIVIVGMF	SEEVYQRQVLSILCIIFGIVIVGMF	3.0	8.0	unscreened	-	3881_10:84711264-84711264 C>T_SEEVYQRQVLSILCIIFGIVIVGMF
9:2718074-2718074 A>T	0.0	3881	MELANOMA	-	-	-	-	KCNV2	NM_133497,p.Y112F|uc003zho.2,p.Y112F|ENST00000382082,p.Y112F	protein_coding	uc003zho.2	nonsynonymous SNV	exon1	c.A335T	p.Y112F	NVNVGGHSYQLDYCELAGFPKTRLG	NVNVGGHSYQLDFCELAGFPKTRLG	1.0	9.0	unscreened	-	3881_9:2718074-2718074 A>T_NVNVGGHSYQLDFCELAGFPKTRLG
1:248059808-248059808 G>A	0.0	3881	MELANOMA	-	-	-	-	OR2W3	uc001idp.1,p.G307E|ENST00000360358,p.G307E|uc010pzb.2,p.G307E|ENST00000537741,p.G307E|NM_001001957,p.G307E	protein_coding	uc010pzb.2	nonsynonymous SNV	exon1	c.G920A	p.G307E	REVKGALGRLLLGKRELGKE	REVKGALGRLLLEKRELGKE	1.0	10.0	unscreened	-	3881_1:248059808-248059808 G>A_REVKGALGRLLLEKRELGKE
21:43491433-43491433 G>A	0.0	3881	MELANOMA	-	-	-	-	UMODL1	ENST00000408989,p.R3K|ENST00000408910,p.R3K|NM_001004416,p.R3K|uc002zaf.1,p.R3K|NM_173568,p.R3K|uc002zag.1,p.R3K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002zag.1	nonsynonymous SNV	exon1	c.G8A	p.R3K	MLRTSGLALLALVSA	MLKTSGLALLALVSA	1.0	2.0	unscreened	-	3881_21:43491433-43491433 G>A_MLKTSGLALLALVSA
17:62019281-62019281 C>T	0.0	3881	MELANOMA	-	-	-	-	SCN4A	uc002jds.1,p.R1454Q|ENST00000435607,p.R1454Q|ENST00000578147,p.R1454Q|NM_000334,p.R1454Q	retained_intron, protein_coding	uc002jds.1	nonsynonymous SNV	exon24	c.G4361A	p.R1454Q	VSPTLFRVIRLARIGRVLRLIRGAK	VSPTLFRVIRLAQIGRVLRLIRGAK	4.0	7.0	unscreened	-	3881_17:62019281-62019281 C>T_VSPTLFRVIRLAQIGRVLRLIRGAK
14:71202693-71202693 G>A	0.0	3881	MELANOMA	-	-	-	-	MAP3K9	NM_001284230,p.P633L|ENST00000555993,p.P633L|NM_033141,p.P633L|uc001xmm.3,p.P633L|uc001xml.3,p.P633L|ENST00000554752,p.P633L	retained_intron, protein_coding	uc001xmm.3	nonsynonymous SNV	exon9	c.C1898T	p.P633L	EKANGLSTPSESPHFHLGLKSLVDG	EKANGLSTPSESLHFHLGLKSLVDG	4.0	2.0	unscreened	-	3881_14:71202693-71202693 G>A_EKANGLSTPSESLHFHLGLKSLVDG
18:13885040-13885040 C>T	0.0	3881	MELANOMA	-	-	-	-	MC2R	NM_001291911,p.G160R|uc002ksp.1,p.G160R|uc021uhs.1,p.G160R|ENST00000327606,p.G160R|NM_000529,p.G160R	protein_coding	uc021uhs.1	nonsynonymous SNV	exon1	c.G478A	p.G160R	VVVLTVIWTFCTGTGITMVIFSHHV	VVVLTVIWTFCTRTGITMVIFSHHV	1.0	3.0	unscreened	-	3881_18:13885040-13885040 C>T_VVVLTVIWTFCTRTGITMVIFSHHV
11:101765649-101765649 A>T	0.0	3881	MELANOMA	-	-	-	-	ANGPTL5	uc001pgl.3,p.F270I|NM_178127,p.F270I|ENST00000334289,p.F270I	protein_coding	uc001pgl.3	nonsynonymous SNV	exon8	c.T808A	p.F270I	SYDNFWLEDETRFFKMHLGRYSGNA	SYDNFWLEDETRIFKMHLGRYSGNA	1.0	2.0	unscreened	-	3881_11:101765649-101765649 A>T_SYDNFWLEDETRIFKMHLGRYSGNA
1:1271581-1271581 G>A	1.0	3881	MELANOMA	-	-	-	-	DVL1	uc009vka.3,p.R335C|NM_004421,p.R652C|uc001aer.4,p.R652C|ENST00000378888,p.R677C|uc002quu.3,p.R394C|ENST00000378891,p.R652C	retained_intron, protein_coding	uc009vka.3	nonsynonymous SNV	exon7	c.C1003T	p.R335C	ELAAVPPELTGSRQSFQKAMGNPCE	ELAAVPPELTGSCQSFQKAMGNPCE	7.0	9.0	-	-	3881_1:1271581-1271581 G>A_ELAAVPPELTGSCQSFQKAMGNPCE
1:228521316-228521316 G>A	0.0	3881	MELANOMA	-	-	-	-	OBSCN	NM_001098623,p.D5297N|ENST00000366709,p.D2416N|ENST00000422127,p.D5297N|uc009xez.2,p.D5297N|NM_001271223,p.D6254N|ENST00000366707,p.D2931N|uc001hsq.2,p.D6254N|ENST00000570156,p.D6254N|ENST00000284548,p.D5297N|NM_052843,p.D5297N|uc001hsn.4,p.D5297N	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon59	c.G15889A	p.D5297N	KGYPAPRLYWFKDGQPLTASAHIRM	KGYPAPRLYWFKNGQPLTASAHIRM	6.0	2.0	unscreened	-	3881_1:228521316-228521316 G>A_KGYPAPRLYWFKNGQPLTASAHIRM
2:48915089-48915089 G>A	0.0	3881	MELANOMA	-	-	ID=COSM136253;OCCURENCE=2(NS),1(skin)	-	LHCGR	ENST00000405626,p.S589F|ENST00000294954,p.S616F|ENST00000344775,p.S554F|uc002rwu.4,p.S616F|NM_000233,p.S616F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002rwu.4	nonsynonymous SNV	exon11	c.C1847T	p.S616F	SKVLLVLFYPINSCANPFLYAIFTK	SKVLLVLFYPINFCANPFLYAIFTK	1.0	4.0	unscreened	-	3881_2:48915089-48915089 G>A_SKVLLVLFYPINFCANPFLYAIFTK
3:10442738-10442738 A>C	0.0	3881	MELANOMA	-	-	-	-	ATP2B2	uc003bvw.3,p.L227R|NM_001683,p.L227R|ENST00000360273,p.L227R|uc003bvv.3,p.L227R|uc003bvt.3,p.L227R|ENST00000460129,p.L227R|ENST00000352432,p.L227R|NM_001001331,p.L227R|ENST00000343816,p.L227R|ENST00000397077,p.L227R|ENST00000383800,p.L227R|ENST00000452124,p.L114R|uc010hdp.2,p.L227R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hdp.2	nonsynonymous SNV	exon5	c.T680G	p.L227R	QVKYGDLLPADGLFIQGNDLKIDES	QVKYGDLLPADGRFIQGNDLKIDES	3.0	9.0	unscreened	-	3881_3:10442738-10442738 A>C_QVKYGDLLPADGRFIQGNDLKIDES
10:84745020-84745020 G>A	0.0	3881	MELANOMA	-	-	-	-	NRG3	ENST00000404547,p.E608K|uc021pvi.1,p.E414K|ENST00000545131,p.E234K|uc021pvh.1,p.E196K|uc010qlz.1,p.E583K|ENST00000556918,p.E414K|uc021pvg.1,p.E412K|uc001kco.2,p.E584K|uc021pve.1,p.E388K|ENST00000372141,p.E584K|ENST00000537893,p.E234K|uc001kcp.2,p.E387K|NM_001010848,p.E584K|ENST00000404576,p.E388K|uc021pvd.1,p.E363K|uc001kcr.2,p.E258K|NM_001165972,p.E583K|ENST00000372142,p.E387K|uc021pvf.1,p.E234K|NM_001165973,p.E387K|uc021pvk.1,p.E124K|uc021pvl.1,p.E234K|uc021pvc.1,p.E608K|uc001kcq.2,p.E234K	protein_coding, nonsense_mediated_decay	uc021pvl.1	nonsynonymous SNV	exon7	c.G700A	p.E234K	SSVPIIPSVGLEETCLQMPGISEVK	SSVPIIPSVGLEKTCLQMPGISEVK	3.0	10.0	unscreened	-	3881_10:84745020-84745020 G>A_SSVPIIPSVGLEKTCLQMPGISEVK
X:119394777-119394777 T>A	0.0	3881	MELANOMA	-	-	-	-	TMEM255A	ENST00000371352,p.Y169F|ENST00000440464,p.Y225F|ENST00000371369,p.Y309F|uc004eso.4,p.Y333F|ENST00000309720,p.Y333F|NM_001104544,p.Y309F|uc010nqo.3,p.Y225F|NM_001104545,p.Y225F|uc004esp.4,p.Y309F|NM_017938,p.Y333F	protein_coding, processed_transcript	uc010nqo.3	nonsynonymous SNV	exon7	c.A674T	p.Y225F	PSYMWSSSAPPRYSPPYYPPFEKPP	PSYMWSSSAPPRFSPPYYPPFEKPP	2.0	2.0	unscreened	-	3881_X:119394777-119394777 T>A_PSYMWSSSAPPRFSPPYYPPFEKPP
17:10310224-10310224 C>T	0.0	3881	MELANOMA	-	-	-	-	MYH8	NM_002472,p.E680K|uc002gmm.2,p.E680K|ENST00000403437,p.E680K	protein_coding	uc002gmm.2	nonsynonymous SNV	exon18	c.G2038A	p.E680K	THPHFVRCIIPNETKTPGAMEHELV	THPHFVRCIIPNKTKTPGAMEHELV	1.0	9.0	unscreened	-	3881_17:10310224-10310224 C>T_THPHFVRCIIPNKTKTPGAMEHELV
10:43292665-43292665 C>T	1.0	3881	MELANOMA	-	-	-	-	BMS1	ENST00000374518,p.S658F|uc001jaj.3,p.S658F|NM_014753,p.S658F	protein_coding	uc001jaj.3	nonsynonymous SNV	exon10	c.C1973T	p.S658F	KEEEDYKEENNDSKETSGALKWKED	KEEEDYKEENNDFKETSGALKWKED	8.0	10.0	-	-	3881_10:43292665-43292665 C>T_KEEEDYKEENNDFKETSGALKWKED
8:104930680-104930680 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1453799,COSM1453802,COSM1453800,COSM1453803,COSM1453801;OCCURENCE=1(large_intestine)	-	RIMS2	uc003ylp.3,p.R683Q|ENST00000515551,p.R491Q|uc003ylu.1,p.R74Q|uc003ylt.3,p.R84Q|NM_014677,p.R491Q|NM_001100117,p.R683Q|ENST00000436393,p.R461Q|NM_001282881,p.R538Q|ENST00000408894,p.R491Q|uc003ylv.1,p.R74Q|uc003yls.3,p.R461Q|ENST00000504942,p.R683Q|uc003ylq.3,p.R491Q|uc003ylw.2,p.R491Q|ENST00000406091,p.R683Q|ENST00000507740,p.R491Q|ENST00000262231,p.R538Q|uc003ylr.3,p.R538Q	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon7	c.G1472A	p.R491Q	ELVVSRPIGDIPRIPDSTHAQLESS	ELVVSRPIGDIPQIPDSTHAQLESS	3.0	5.0	unscreened	-	3881_8:104930680-104930680 G>A_ELVVSRPIGDIPQIPDSTHAQLESS
14:20248759-20248759 C>T	0.0	3881	MELANOMA	-	-	-	-	OR4M1	ENST00000315957,p.S93F|NM_001005500,p.S93F|uc010tku.2,p.S93F	protein_coding	uc010tku.2	nonsynonymous SNV	exon1	c.C278T	p.S93F	MLIDFFVERKIISFGGCIAQLFFLH	MLIDFFVERKIIFFGGCIAQLFFLH	1.0	1.0	unscreened	-	3881_14:20248759-20248759 C>T_MLIDFFVERKIIFFGGCIAQLFFLH
6:129618950-129618950 G>A	0.0	3881	MELANOMA	-	-	-	-	LAMA2	NM_001079823,p.G993R|uc021zfb.1,p.G993R|ENST00000421865,p.G993R|uc003qbo.3,p.G993R|uc003qbn.3,p.G993R|NM_000426,p.G993R	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon21	c.G2977A	p.G993R	ESGQCWCQPGVTGKKCDRCAHGYFN	ESGQCWCQPGVTRKKCDRCAHGYFN	1.0	10.0	unscreened	-	3881_6:129618950-129618950 G>A_ESGQCWCQPGVTRKKCDRCAHGYFN
20:49620884-49620884 G>A	0.0	3881	MELANOMA	-	-	-	-	KCNG1	NM_002237,p.P412S|uc002xwa.4,p.P412S|ENST00000371571,p.P412S	protein_coding	uc002xwa.4	nonsynonymous SNV	exon3	c.C1234T	p.P412S	NEMADSPEFTSIPACYWWAVITMTT	NEMADSPEFTSISACYWWAVITMTT	3.0	6.0	unscreened	-	3881_20:49620884-49620884 G>A_NEMADSPEFTSISACYWWAVITMTT
5:140552538-140552538 G>A	0.0	3881	MELANOMA	-	-	-	-	PCDHB7	NM_018940,p.R41K|uc003lit.3,p.R41K|ENST00000231137,p.R41K	protein_coding	uc003lit.3	nonsynonymous SNV	exon1	c.G122A	p.R41K	EPLRYFVAEETERGTFLTNLAKDLG	EPLRYFVAEETEKGTFLTNLAKDLG	5.0	9.0	unscreened	-	3881_5:140552538-140552538 G>A_EPLRYFVAEETEKGTFLTNLAKDLG
22:35481600-35481600 C>T	0.0	3881	MELANOMA	-	-	-	2	ISX	ENST00000404699,p.P218S|NM_001008494,p.P218S|uc003anj.3,p.P218S|ENST00000308700,p.P218S	protein_coding	uc003anj.3	nonsynonymous SNV	exon4	c.C652T	p.P218S	AHPWETQPVPGLPIHQTCIPVLCIL	AHPWETQPVPGLSIHQTCIPVLCIL	1.0	7.0	unscreened	-	3881_22:35481600-35481600 C>T_AHPWETQPVPGLSIHQTCIPVLCIL
4:8293277-8293277 G>A	0.0	3881	MELANOMA	-	-	-	-	HTRA3	ENST00000307358,p.D297N|NM_053044,p.D297N|uc003gkz.3,p.D297N|ENST00000382512,p.D297N|NM_001297559,p.D297N|uc003gla.3,p.D297N	protein_coding	uc003gla.3	nonsynonymous SNV	exon4	c.G889A	p.D297N	GLRDSDMDYIQTDAIINYGNSGGPL	GLRDSDMDYIQTNAIINYGNSGGPL	4.0	6.0	unscreened	-	3881_4:8293277-8293277 G>A_GLRDSDMDYIQTNAIINYGNSGGPL
2:189873692-189873692 C>T	0.0	3881	MELANOMA	-	-	-	2	COL3A1	ENST00000317840,p.P887S|ENST00000304636,p.P1190S|NM_000090,p.P1190S|uc002uqj.1,p.P1190S	retained_intron, protein_coding	uc002uqj.1	nonsynonymous SNV	exon48	c.C3568T	p.P1190S	PGHPGQPGPPGPPGAPGPCCGGVGA	PGHPGQPGPPGPSGAPGPCCGGVGA	10.0	8.0	unscreened	-	3881_2:189873692-189873692 C>T_PGHPGQPGPPGPSGAPGPCCGGVGA
6:33154337-33154337 G>A	0.0	3881	MELANOMA	-	-	-	-	COL11A2	uc003oda.3,p.P289S|NM_001163771,p.P289S|ENST00000395194,p.P289S	protein_coding, processed_transcript	uc003oda.3	nonsynonymous SNV	exon5	c.C865T	p.P289S	AHPREGRHPGISPP	AHPREGRHPGISSP	7.0	1.0	unscreened	-	3881_6:33154337-33154337 G>A_AHPREGRHPGISSP
8:71646078-71646078 G>A	0.0	3881	MELANOMA	-	-	-	-	XKR9	NM_001287260,p.D181N|uc003xyq.3,p.D181N|NM_001287258,p.D49N|uc010lzd.3,p.D49N|NM_001287259,p.D181N|ENST00000520030,p.D181N|ENST00000408926,p.D181N|NM_001011720,p.D181N|uc010lze.3,p.D181N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lze.3	nonsynonymous SNV	exon6	c.G541A	p.D181N	MVSCCAISWSTVDYQVALRKSLPDK	MVSCCAISWSTVNYQVALRKSLPDK	2.0	2.0	unscreened	-	3881_8:71646078-71646078 G>A_MVSCCAISWSTVNYQVALRKSLPDK
15:86312252-86312252 G>A	0.0	3881	MELANOMA	-	-	-	-	KLHL25	uc002bly.3,p.L264F|uc021stw.1,p.L264F|ENST00000536947,p.L264F|ENST00000337975,p.L264F|NM_022480,p.L264F	protein_coding, processed_transcript	uc021stw.1	nonsynonymous SNV	exon1	c.C790T	p.L264F	SEALLMADERTKLIMDEALRCKTRI	SEALLMADERTKFIMDEALRCKTRI	4.0	1.0	unscreened	-	3881_15:86312252-86312252 G>A_SEALLMADERTKFIMDEALRCKTRI
5:13913884-13913884 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1695459;OCCURENCE=1(breast),1(skin)	-	DNAH5	NM_001369,p.E502K|ENST00000265104,p.E502K|uc003jfd.2,p.E502K	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon11	c.G1504A	p.E502K	LKTYSVLQDSTIEGLEDMATKYQGI	LKTYSVLQDSTIKGLEDMATKYQGI	1.0	9.0	unscreened	-	3881_5:13913884-13913884 C>T_LKTYSVLQDSTIKGLEDMATKYQGI
3:142030585-142030585 G>A	1.0	3881	MELANOMA	-	-	-	-	XRN1	uc003eut.3,p.P1617L|uc010huu.3,p.P1084L|ENST00000392981,p.P1618L|NM_001282857,p.P1618L|ENST00000264951,p.P1630L|uc003eus.3,p.P1630L|NM_019001,p.P1630L|uc003euu.3,p.P1618L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010huu.3	nonsynonymous SNV	exon27	c.C3251T	p.P1084L	FENKEAQSSQATPVQTSQPDSSNIV	FENKEAQSSQATLVQTSQPDSSNIV	10.0	2.0	unscreened	-	3881_3:142030585-142030585 G>A_FENKEAQSSQATLVQTSQPDSSNIV
6:123369876-123369876 G>A	0.0	3881	MELANOMA	-	-	-	-	CLVS2	NM_001010852,p.R225K|ENST00000368438,p.R79K|uc003pzi.1,p.R225K|ENST00000275162,p.R225K	protein_coding	uc003pzi.1	nonsynonymous SNV	exon4	c.G674A	p.R225K	VIRPFLKEKTRKRIFLHGNNLNSLH	VIRPFLKEKTRKKIFLHGNNLNSLH	1.0	10.0	unscreened	-	3881_6:123369876-123369876 G>A_VIRPFLKEKTRKKIFLHGNNLNSLH
2:157414028-157414028 C>T	1.0	3881	MELANOMA	-	-	ID=COSM1691171;OCCURENCE=1(skin)	-	GPD2	uc010zch.2,p.P140S|uc002tzd.4,p.P367S|ENST00000310454,p.P367S|NM_001083112,p.P367S|ENST00000409674,p.P367S|NM_000408,p.P367S|ENST00000540309,p.P367S|ENST00000438166,p.P367S|ENST00000409125,p.P140S|ENST00000409861,p.P367S|uc002tzf.4,p.P367S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zch.2	nonsynonymous SNV	exon5	c.C418T	p.P140S	TDTPTDVTHHPIPSEEDINFILNEV	TDTPTDVTHHPISSEEDINFILNEV	8.0	3.0	unscreened	-	3881_2:157414028-157414028 C>T_TDTPTDVTHHPISSEEDINFILNEV
7:88963716-88963716 G>A	0.0	3881	MELANOMA	-	-	-	-	ZNF804B	uc011khi.2,p.G474S|NM_181646,p.G474S|ENST00000333190,p.G474S	protein_coding	uc011khi.2	nonsynonymous SNV	exon4	c.G1420A	p.G474S	LLFTKTEPCISYGCNPLYFDFKLSR	LLFTKTEPCISYSCNPLYFDFKLSR	1.0	7.0	unscreened	-	3881_7:88963716-88963716 G>A_LLFTKTEPCISYSCNPLYFDFKLSR
17:18653263-18653263 C>T	0.0	3881	MELANOMA	-	-	-	-	FBXW10	ENST00000308799,p.P300L|uc002gul.3,p.P300L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002gul.3	nonsynonymous SNV	exon3	c.C899T	p.P300L	YILSMLGCMRGFPRHLPSWPSSGVS	YILSMLGCMRGFLRHLPSWPSSGVS	2.0	9.0	unscreened	-	3881_17:18653263-18653263 C>T_YILSMLGCMRGFLRHLPSWPSSGVS
5:180166575-180166575 G>A	0.0	3881	MELANOMA	-	-	-	-	OR2Y1	NM_001001657,p.L162F|uc003mmf.1,p.L162F|ENST00000307832,p.L162F	protein_coding	uc003mmf.1	nonsynonymous SNV	exon1	c.C484T	p.L162F	GAGFVNSLIQTGLAMAMPLCGHRLN	GAGFVNSLIQTGFAMAMPLCGHRLN	1.0	3.0	unscreened	-	3881_5:180166575-180166575 G>A_GAGFVNSLIQTGFAMAMPLCGHRLN
18:61310772-61310772 C>T	0.0	3881	MELANOMA	-	-	-	-	SERPINB4	ENST00000436264,p.D14N|NM_002974,p.D14N|uc002lje.3,p.D14N|ENST00000356424,p.D14N|uc002ljf.3,p.D14N|ENST00000341074,p.D14N|NM_175041,p.D14N	retained_intron, protein_coding	uc002ljf.3	nonsynonymous SNV	exon2	c.G40A	p.D14N	NSLSEANTKFMFDLFQQFRKSKENN	NSLSEANTKFMFNLFQQFRKSKENN	1.0	3.0	unscreened	-	3881_18:61310772-61310772 C>T_NSLSEANTKFMFNLFQQFRKSKENN
3:138179498-138179498 C>T	0.0	3881	MELANOMA	-	-	-	-	ESYT3	uc003esk.3,p.P262S|ENST00000289135,p.P262S|ENST00000490835,p.P262S|NM_031913,p.P262S|ENST00000389567,p.P262S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003esk.3	nonsynonymous SNV	exon7	c.C784T	p.P262S	INWTGLTNLLDAPGINDVSDSLLED	INWTGLTNLLDASGINDVSDSLLED	1.0	1.0	unscreened	-	3881_3:138179498-138179498 C>T_INWTGLTNLLDASGINDVSDSLLED
17:9632105-9632105 G>A	0.0	3881	MELANOMA	-	-	-	-	USP43	uc002gmc.4,p.S569N|ENST00000285199,p.S1057N|ENST00000570827,p.S746N|NM_153210,p.S1057N|uc002gma.4,p.S746N|uc010coe.3,p.S854N|NM_001267576,p.S1052N|uc010vva.3,p.S1052N|ENST00000570475,p.S1052N|uc010cod.4,p.S1057N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vva.3	nonsynonymous SNV	exon15	c.G3155A	p.S1052N	LRIPEGLARGLGSRLERDVWSAPSS	LRIPEGLARGLGNRLERDVWSAPSS	1.0	8.0	unscreened	-	3881_17:9632105-9632105 G>A_LRIPEGLARGLGNRLERDVWSAPSS
10:71025370-71025370 G>A	0.0	3881	MELANOMA	-	-	-	-	HKDC1	ENST00000354624,p.R801K|NM_025130,p.R801K|uc001jpf.4,p.R801K|uc010qje.2,p.R664K	protein_coding, processed_transcript	uc010qje.2	nonsynonymous SNV	exon14	c.G1991A	p.R664K	IESDRLALLQVRRILQQLGLDSTCE	IESDRLALLQVRKILQQLGLDSTCE	2.0	1.0	unscreened	-	3881_10:71025370-71025370 G>A_IESDRLALLQVRKILQQLGLDSTCE
3:48602921-48602921 G>A	0.0	3881	MELANOMA	-	-	-	-	COL7A1	uc003ctz.2,p.P2817S|NM_000094,p.P2817S|ENST00000454817,p.P2785S|ENST00000328333,p.P2817S	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon115	c.C8449T	p.P2817S	QGQFIASGSRPLPSYAADTAGSQLH	QGQFIASGSRPLSSYAADTAGSQLH	5.0	2.0	unscreened	-	3881_3:48602921-48602921 G>A_QGQFIASGSRPLSSYAADTAGSQLH
4:151773117-151773117 C>T	1.0	3881	MELANOMA	-	-	-	-	LRBA	uc010ipj.3,p.V1249I|uc003ilu.4,p.V1249I|ENST00000357115,p.V1249I|ENST00000507224,p.V1249I|NM_001199282,p.V1249I|ENST00000510413,p.V1249I|ENST00000535741,p.V1249I|NM_006726,p.V1249I	retained_intron, protein_coding, processed_transcript	uc010ipj.3	nonsynonymous SNV	exon23	c.G3745A	p.V1249I	SEQKIAKLDVSNVATDTERLELKAS	SEQKIAKLDVSNIATDTERLELKAS	7.0	9.0	-	-	3881_4:151773117-151773117 C>T_SEQKIAKLDVSNIATDTERLELKAS
1:47283879-47283879 G>A	0.0	3881	MELANOMA	-	-	-	-	CYP4B1	NM_001099772,p.G450E|ENST00000452782,p.G287E|NM_000779,p.G449E|uc001cqn.4,p.G450E|ENST00000271153,p.G449E|uc001cqm.4,p.G449E|ENST00000371919,p.G435E|ENST00000371923,p.G450E|uc010omk.2,p.G286E|uc009vym.3,p.G435E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010omk.2	nonsynonymous SNV	exon9	c.G857A	p.G286E	KRHPFAFMPFSAGPRNCIGQQFAMS	KRHPFAFMPFSAEPRNCIGQQFAMS	1.0	9.0	unscreened	-	3881_1:47283879-47283879 G>A_KRHPFAFMPFSAEPRNCIGQQFAMS
19:57328276-57328276 C>T	0.0	3881	MELANOMA	-	-	-	-	PEG3	uc002qnv.2,p.E512K|uc002qnt.2,p.E483K|NM_001146187,p.E388K|ENST00000598410,p.E388K|uc002qnu.2,p.E512K|ENST00000600833,p.E357K|ENST00000326441,p.E512K|uc002qnx.2,p.E386K|ENST00000593695,p.E386K|ENST00000423103,p.E512K|ENST00000599534,p.E512K|uc002qnw.2,p.E388K|uc010etr.2,p.E512K|NM_006210,p.E512K|NM_001146185,p.E386K|NM_001146184,p.E512K|NM_001146186,p.E512K|ENST00000599577,p.E512K	protein_coding, processed_transcript	uc010etr.2	nonsynonymous SNV	exon9	c.G1534A	p.E512K	VGGKRFECKDCGETFNKSAALAEHR	VGGKRFECKDCGKTFNKSAALAEHR	2.0	7.0	unscreened	-	3881_19:57328276-57328276 C>T_VGGKRFECKDCGKTFNKSAALAEHR
3:68587922-68587922 G>A	0.0	3881	MELANOMA	-	-	-	-	FAM19A1	NM_213609,p.G92E|uc003dne.3,p.G92E|NM_001252216,p.G92E|ENST00000496687,p.G92E|ENST00000478136,p.G92E|uc003dnd.3,p.G92E|uc003dng.3,p.G92E	protein_coding, processed_transcript	uc003dng.3	nonsynonymous SNV	exon3	c.G275A	p.G92E	NRPSCVDASIVIGKWWCEMEPCLEG	NRPSCVDASIVIEKWWCEMEPCLEG	1.0	10.0	unscreened	-	3881_3:68587922-68587922 G>A_NRPSCVDASIVIEKWWCEMEPCLEG
3:35770831-35770831 C>T	0.0	3881	MELANOMA	-	-	-	-	ARPP21	uc003cga.3,p.S367L|ENST00000417925,p.S387L|NM_001267617,p.S367L|ENST00000337271,p.S367L|ENST00000458225,p.S387L|uc003cgf.3,p.S222L|uc003cgb.3,p.S421L|ENST00000457165,p.S79L|NM_001267619,p.S387L|NM_016300,p.S421L|ENST00000187397,p.S421L|uc011axy.2,p.S387L|ENST00000444190,p.S367L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011axy.2	nonsynonymous SNV	exon13	c.C1160T	p.S387L	GSESSSSAGSSGSLSRTHPPLQSTP	GSESSSSAGSSGLLSRTHPPLQSTP	1.0	1.0	unscreened	-	3881_3:35770831-35770831 C>T_GSESSSSAGSSGLLSRTHPPLQSTP
19:10088094-10088094 C>T	0.0	3881	MELANOMA	-	-	ID=COSM710288;OCCURENCE=1(lung)	-	COL5A3	ENST00000264828,p.G1061R|NM_015719,p.G1061R|uc002mmq.1,p.G1061R	retained_intron, protein_coding	uc002mmq.1	nonsynonymous SNV	exon43	c.G3181A	p.G1061R	GPTGKDGIPGPLGPLGPPGAAGPSG	GPTGKDGIPGPLRPLGPPGAAGPSG	5.0	6.0	unscreened	-	3881_19:10088094-10088094 C>T_GPTGKDGIPGPLRPLGPPGAAGPSG
14:20296475-20296475 C>T	0.0	3881	MELANOMA	-	-	ID=COSM954080;OCCURENCE=1(endometrium),1(breast)	-	OR4N2	NM_001004723,p.R290C|ENST00000315947,p.R290C|uc010tkv.2,p.R290C	protein_coding	uc010tkv.2	nonsynonymous SNV	exon1	c.C868T	p.R290C	IFPLLNPVIYTLRNQEVKASMKKVF	IFPLLNPVIYTLCNQEVKASMKKVF	1.0	1.0	unscreened	-	3881_14:20296475-20296475 C>T_IFPLLNPVIYTLCNQEVKASMKKVF
3:62739175-62739175 A>C	0.0	3881	MELANOMA	-	-	-	-	CADPS	uc021wzv.1,p.F277V|uc003dll.2,p.F277V|ENST00000357948,p.F277V|NM_183393,p.F277V|ENST00000283269,p.F277V|uc003dln.2,p.F277V|NM_183394,p.F277V|NM_003716,p.F277V|ENST00000490353,p.F277V|ENST00000383710,p.F277V|uc003dlm.2,p.F277V	retained_intron, protein_coding, processed_transcript	uc021wzv.1	nonsynonymous SNV	exon3	c.T829G	p.F277V	ELILSKEQLYEMFQNILGIKKFEHQ	ELILSKEQLYEMVQNILGIKKFEHQ	3.0	2.0	unscreened	-	3881_3:62739175-62739175 A>C_ELILSKEQLYEMVQNILGIKKFEHQ
7:123276869-123276869 C>T	0.0	3881	MELANOMA	-	-	-	-	ASB15	NM_001290258,p.P534L|uc003vku.1,p.P534L|NM_080928,p.P534L|ENST00000451215,p.P534L|uc003vkw.1,p.P534L|ENST00000451558,p.P534L|ENST00000540573,p.P534L|ENST00000275699,p.P534L|ENST00000434204,p.P534L	protein_coding	uc003vkw.1	nonsynonymous SNV	exon10	c.C1601T	p.P534L	REWPEIRQILENPCSLKHLCRLKIR	REWPEIRQILENLCSLKHLCRLKIR	1.0	5.0	unscreened	-	3881_7:123276869-123276869 C>T_REWPEIRQILENLCSLKHLCRLKIR
5:13793808-13793808 C>T	0.0	3881	MELANOMA	-	-	-	-	DNAH5	NM_001369,p.M2680I|uc003jfd.2,p.M2680I|ENST00000265104,p.M2680I	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon49	c.G8040A	p.M2680I	GDQVTNEIVRQLMEQNGFYNLEKPG	GDQVTNEIVRQLIEQNGFYNLEKPG	1.0	6.0	unscreened	-	3881_5:13793808-13793808 C>T_GDQVTNEIVRQLIEQNGFYNLEKPG
4:187195413-187195413 C>T	0.0	3881	MELANOMA	-	-	-	-	F11	ENST00000403665,p.P157S|uc003iza.1,p.P157S|NM_000128,p.P157S	retained_intron, protein_coding	uc003iza.1	nonsynonymous SNV	exon5	c.C469T	p.P157S	HCHFFTYATRQFPSLEHRNICLLKH	HCHFFTYATRQFSSLEHRNICLLKH	1.0	8.0	unscreened	-	3881_4:187195413-187195413 C>T_HCHFFTYATRQFSSLEHRNICLLKH
11:89774269-89774269 G>A	0.0	3881	MELANOMA	-	-	-	-	TRIM49C	NM_001195234,p.E304K|ENST00000448984,p.E304K|uc010rua.2,p.E304K	protein_coding	uc010rua.2	nonsynonymous SNV	exon8	c.G910A	p.E304K	HHEEANSDIFLYEILRSMCIGCDHQ	HHEEANSDIFLYKILRSMCIGCDHQ	1.0	5.0	unscreened	-	3881_11:89774269-89774269 G>A_HHEEANSDIFLYKILRSMCIGCDHQ
12:99223058-99223058 G>A	0.0	3881	MELANOMA	-	-	-	-	ANKS1B	uc001tgk.3,p.S284F|ENST00000329257,p.S987F|uc009zts.2,p.S213F|ENST00000546960,p.S213F|NM_001204068,p.S213F|NM_152788,p.S987F|ENST00000549493,p.S213F|NM_181670,p.S213F|uc001tge.2,p.S987F|ENST00000547776,p.S987F|uc001tgi.3,p.S213F	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zts.2	nonsynonymous SNV	exon5	c.C638T	p.S213F	PSLSQSTYTTGGSLDVPHIIMQGDA	PSLSQSTYTTGGFLDVPHIIMQGDA	1.0	8.0	unscreened	-	3881_12:99223058-99223058 G>A_PSLSQSTYTTGGFLDVPHIIMQGDA
19:43411917-43411917 G>A	0.0	3881	MELANOMA	-	-	-	-	PSG6	ENST00000594375,p.R145W|ENST00000187910,p.R266W|uc002ovg.2,p.R266W|uc002ovj.2,p.R266W|NM_002782,p.R266W|NM_001031850,p.R266W|uc010xwk.2,p.R106W|ENST00000292125,p.R266W	retained_intron, protein_coding, nonsense_mediated_decay	uc010xwk.2	nonsynonymous SNV	exon2	c.C316T	p.R106W	KDVLAFTCEPKSRNYTYIWWLNGQS	KDVLAFTCEPKSWNYTYIWWLNGQS	1.0	8.0	unscreened	-	3881_19:43411917-43411917 G>A_KDVLAFTCEPKSWNYTYIWWLNGQS
11:55872687-55872687 C>T	0.0	3881	MELANOMA	-	-	ID=COSM688696;OCCURENCE=1(lung)	-	OR8H2	NM_001005200,p.H57Y|ENST00000313503,p.H57Y|uc010riy.2,p.H57Y	protein_coding	uc010riy.2	nonsynonymous SNV	exon1	c.C169T	p.H57Y	GMILIIRLDLQLHTPMYFFLTHLSF	GMILIIRLDLQLYTPMYFFLTHLSF	1.0	6.0	unscreened	-	3881_11:55872687-55872687 C>T_GMILIIRLDLQLYTPMYFFLTHLSF
21:43491442-43491442 G>A	0.0	3881	MELANOMA	-	-	-	-	UMODL1	uc002zag.1,p.G6E|NM_001004416,p.G6E|uc002zaf.1,p.G6E|ENST00000408910,p.G6E|NM_173568,p.G6E|ENST00000408989,p.G6E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002zag.1	nonsynonymous SNV	exon1	c.G17A	p.G6E	MLRTSGLALLALVSAVGP	MLRTSELALLALVSAVGP	1.0	2.0	unscreened	-	3881_21:43491442-43491442 G>A_MLRTSELALLALVSAVGP
15:50555448-50555448 C>T	0.0	3881	MELANOMA	-	-	-	-	HDC	uc010bet.2,p.R63Q	retained_intron, protein_coding	uc010bet.2	nonsynonymous SNV	exon2	c.G188A	p.R63Q	PDSWDSIFGDIERIIMPGSTVSEST	PDSWDSIFGDIEQIIMPGSTVSEST	1.0	10.0	unscreened	-	3881_15:50555448-50555448 C>T_PDSWDSIFGDIEQIIMPGSTVSEST
X:8434287-8434287 G>A	0.0	3881	MELANOMA	-	-	-	-	VCX3B	ENST00000440654,p.E152K|uc004csd.1,p.E152K|uc011mht.2,p.E202K|ENST00000381029,p.E170K|ENST00000381032,p.E202K|NM_001001888,p.E202K|ENST00000444481,p.E172K	protein_coding	uc011mht.2	nonsynonymous SNV	exon3	c.G604A	p.E202K	VEEPLSQESQVEEPLSQESEMEEPL	VEEPLSQESQVEKPLSQESEMEEPL	3.0	1.0	unscreened	-	3881_X:8434287-8434287 G>A_VEEPLSQESQVEKPLSQESEMEEPL
X:7811950-7811950 G>A	0.0	3881	MELANOMA	-	-	-	-	VCX	uc004crz.3,p.E172K|NM_013452,p.E172K|ENST00000381059,p.E172K|ENST00000341408,p.E152K	protein_coding	uc004crz.3	nonsynonymous SNV	exon3	c.G514A	p.E172K	VEEPLSQESQVEEPLSQESEMEEPL	VEEPLSQESQVEKPLSQESEMEEPL	3.0	1.0	unscreened	-	3881_X:7811950-7811950 G>A_VEEPLSQESQVEKPLSQESEMEEPL
X:135618361-135618361 C>T	0.0	3881	MELANOMA	-	-	-	-	VGLL1	ENST00000370634,p.S61L|uc004ezy.3,p.S61L|NM_016267,p.S61L	protein_coding, processed_transcript	uc004ezy.3	nonsynonymous SNV	exon2	c.C182T	p.S61L	LSNIKSPQELTPSSQSEGVMLKNDD	LSNIKSPQELTPLSQSEGVMLKNDD	1.0	1.0	unscreened	-	3881_X:135618361-135618361 C>T_LSNIKSPQELTPLSQSEGVMLKNDD
1:111216155-111216155 G>A	0.0	3881	MELANOMA	-	-	-	-	KCNA3	ENST00000369769,p.S426L|NM_002232,p.S426L|uc001dzv.1,p.S426L	protein_coding	uc001dzv.1	nonsynonymous SNV	exon1	c.C1277T	p.S426L	SAVYFAEADDPTSGFSSIPDAFWWA	SAVYFAEADDPTLGFSSIPDAFWWA	5.0	9.0	unscreened	-	3881_1:111216155-111216155 G>A_SAVYFAEADDPTLGFSSIPDAFWWA
16:23203716-23203716 C>T	0.0	3881	MELANOMA	-	-	-	-	SCNN1G	ENST00000300061,p.S221L|uc002dlm.1,p.S221L|NM_001039,p.S221L	protein_coding	uc002dlm.1	nonsynonymous SNV	exon4	c.C662T	p.S221L	NDTSDCATYTFSSGINAIQEWYKLH	NDTSDCATYTFSLGINAIQEWYKLH	1.0	1.0	unscreened	-	3881_16:23203716-23203716 C>T_NDTSDCATYTFSLGINAIQEWYKLH
19:15852663-15852663 C>T	0.0	3881	MELANOMA	-	-	-	-	OR10H3	uc010xoq.2,p.S154L|NM_013938,p.S154L|ENST00000305892,p.S154L	protein_coding	uc010xoq.2	nonsynonymous SNV	exon1	c.C461T	p.S154L	CAHLVAWTWAGGSVMGMMVTMMVFH	CAHLVAWTWAGGLVMGMMVTMMVFH	1.0	5.0	unscreened	-	3881_19:15852663-15852663 C>T_CAHLVAWTWAGGLVMGMMVTMMVFH
1:175066699-175066699 G>A	0.0	3881	MELANOMA	-	-	-	-	TNN	uc001gkl.1,p.G579R|NM_022093,p.G579R|ENST00000239462,p.G579R	protein_coding	uc001gkl.1	nonsynonymous SNV	exon8	c.G1735A	p.G579R	SADDQETREVLVGKEQSSTVLTGLR	SADDQETREVLVRKEQSSTVLTGLR	1.0	10.0	unscreened	-	3881_1:175066699-175066699 G>A_SADDQETREVLVRKEQSSTVLTGLR
16:9862718-9862718 G>A	0.0	3881	MELANOMA	-	-	-	1	GRIN2A	ENST00000330684,p.S862F|uc002czr.4,p.S862F|ENST00000404927,p.S862F|NM_000833,p.S862F|uc010uyn.2,p.S705F|ENST00000535259,p.S705F|ENST00000562109,p.S862F|NM_001134408,p.S862F|uc002czo.4,p.S862F|ENST00000396575,p.S862F|ENST00000396573,p.S862F|NM_001134407,p.S862F|uc010uym.2,p.S862F	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon11	c.C2114T	p.S705F	TGVCSDRPGLLFSISRGIYSCIHGV	TGVCSDRPGLLFFISRGIYSCIHGV	3.0	4.0	unscreened	-	3881_16:9862718-9862718 G>A_TGVCSDRPGLLFFISRGIYSCIHGV
7:123254659-123254659 G>A	0.0	3881	MELANOMA	-	-	-	-	ASB15	ENST00000275699,p.E35K|ENST00000540573,p.E35K|ENST00000451215,p.E35K|ENST00000447789,p.E35K|ENST00000451558,p.E35K|uc003vku.1,p.E35K|uc003vkw.1,p.E35K|NM_080928,p.E35K|NM_001290258,p.E35K|uc003vkv.1,p.E35K|ENST00000434204,p.E35K|ENST00000437535,p.E35K	protein_coding	uc003vkw.1	nonsynonymous SNV	exon2	c.G103A	p.E35K	ESIEASKTALCPERFVPLSAQNRKL	ESIEASKTALCPKRFVPLSAQNRKL	1.0	6.0	unscreened	-	3881_7:123254659-123254659 G>A_ESIEASKTALCPKRFVPLSAQNRKL
15:50836952-50836952 G>A	0.0	3881	MELANOMA	-	-	-	-	USP50	NM_203494,p.T27I|ENST00000532404,p.T27I|uc021sky.1,p.T27I	protein_coding, processed_transcript, nonsense_mediated_decay	uc021sky.1	nonsynonymous SNV	exon2	c.C80T	p.T27I	YHVLAECTDYYDTLPVKEADGNQPH	YHVLAECTDYYDILPVKEADGNQPH	1.0	1.0	unscreened	-	3881_15:50836952-50836952 G>A_YHVLAECTDYYDILPVKEADGNQPH
2:135214301-135214301 C>T	0.0	3881	MELANOMA	-	-	-	-	TMEM163	ENST00000281924,p.E286K|NM_030923,p.E286K|uc002ttx.3,p.E286K	retained_intron, protein_coding	uc002ttx.3	nonsynonymous SNV	exon8	c.G856A	p.E286K	DMVPRVRQTRHYEMFE	DMVPRVRQTRHYKMFE	2.0	2.0	unscreened	-	3881_2:135214301-135214301 C>T_DMVPRVRQTRHYKMFE
4:80329072-80329072 C>T	0.0	3881	MELANOMA	-	-	-	-	GK2	uc003hlu.3,p.E95K|NM_033214,p.E95K|ENST00000358842,p.E95K	protein_coding	uc003hlu.3	nonsynonymous SNV	exon1	c.G283A	p.E95K	SNIKAVGVSNQRETTVIWDKLTGEP	SNIKAVGVSNQRKTTVIWDKLTGEP	1.0	1.0	unscreened	-	3881_4:80329072-80329072 C>T_SNIKAVGVSNQRKTTVIWDKLTGEP
11:113775672-113775672 T>G	0.0	3881	MELANOMA	-	-	-	-	HTR3B	NM_006028,p.M6R|ENST00000260191,p.M6R|uc001pok.3,p.M6R	protein_coding	uc001pok.3	nonsynonymous SNV	exon1	c.T17G	p.M6R	MLSSVMAPLWACILVAAG	MLSSVRAPLWACILVAAG	1.0	9.0	unscreened	-	3881_11:113775672-113775672 T>G_MLSSVRAPLWACILVAAG
19:9237376-9237376 T>C	0.0	3881	MELANOMA	-	-	-	-	OR7G3	uc010xkl.2,p.N84S|NM_001001958,p.N84S|ENST00000305444,p.N84S	protein_coding	uc010xkl.2	nonsynonymous SNV	exon1	c.A251G	p.N84S	CFTSTTMPKMLVNIQAQAQSINYTG	CFTSTTMPKMLVSIQAQAQSINYTG	1.0	8.0	unscreened	-	3881_19:9237376-9237376 T>C_CFTSTTMPKMLVSIQAQAQSINYTG
12:7527454-7527454 G>A	0.0	3881	MELANOMA	-	-	-	-	CD163L1	uc001qsy.3,p.P1023S|NM_001297650,p.P1033S|ENST00000416109,p.P1033S|ENST00000396630,p.P1023S|uc010sge.2,p.P1033S|NM_174941,p.P1023S|ENST00000313599,p.P1023S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sge.2	nonsynonymous SNV	exon12	c.C3097T	p.P1033S	LANVSDPYLSAVPEGSALICLEDKR	LANVSDPYLSAVSEGSALICLEDKR	4.0	8.0	unscreened	-	3881_12:7527454-7527454 G>A_LANVSDPYLSAVSEGSALICLEDKR
2:217311861-217311861 C>T	1.0	3881	MELANOMA	-	-	-	-	SMARCAL1	uc010fvg.3,p.R589C|uc002vgc.4,p.R611C|ENST00000358207,p.R611C|uc002vgd.4,p.R611C|NM_001127207,p.R611C|ENST00000357276,p.R611C|ENST00000392128,p.R453C|NM_014140,p.R611C	retained_intron, protein_coding, processed_transcript	uc010fvg.3	nonsynonymous SNV	exon8	c.C1765T	p.R589C	PTFFPQFHAFGLRYCDAKRMPWGWD	PTFFPQFHAFGLCYCDAKRMPWGWD	7.0	8.0	-	-	3881_2:217311861-217311861 C>T_PTFFPQFHAFGLCYCDAKRMPWGWD
1:215916626-215916626 C>T	0.0	3881	MELANOMA	-	-	-	-	USH2A	uc001hku.1,p.G3814E|ENST00000307340,p.G3814E|NM_206933,p.G3814E|ENST00000366943,p.G3814E	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon59	c.G11441A	p.G3814E	EIPVEYNVLLNDGSVTPLAFSVGHH	EIPVEYNVLLNDESVTPLAFSVGHH	1.0	8.0	unscreened	-	3881_1:215916626-215916626 C>T_EIPVEYNVLLNDESVTPLAFSVGHH
5:67591270-67591270 C>T	1.0	3881	MELANOMA	-	-	ID=COSM172386;OCCURENCE=1(large_intestine)	1	PIK3R1	NM_001242466,p.R227W|uc003jva.3,p.R590W|ENST00000274335,p.R590W|ENST00000320694,p.R290W|uc003jvc.3,p.R290W|uc011crb.2,p.R260W|NM_181524,p.R290W|ENST00000336483,p.R320W|NM_181523,p.R590W|ENST00000521657,p.R590W|uc003jve.3,p.R269W|uc021xzn.1,p.R227W|uc003jvd.3,p.R320W|ENST00000396611,p.R590W|NM_181504,p.R320W|ENST00000523872,p.R227W|ENST00000521381,p.R590W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xzn.1	nonsynonymous SNV	exon7	c.C679T	p.R227W	DQYLMWLTQKGVRQKKLNEWLGNEN	DQYLMWLTQKGVWQKKLNEWLGNEN	10.0	6.0	unscreened	-	3881_5:67591270-67591270 C>T_DQYLMWLTQKGVWQKKLNEWLGNEN
10:106849544-106849544 G>A	0.0	3881	MELANOMA	-	-	-	-	SORCS3	NM_014978,p.G347E|ENST00000369701,p.G347E|uc001kyi.1,p.G347E	protein_coding	uc001kyi.1	nonsynonymous SNV	exon6	c.G1040A	p.G347E	RITPNRFYWSVAGLDKEADLVHMEV	RITPNRFYWSVAELDKEADLVHMEV	1.0	8.0	unscreened	-	3881_10:106849544-106849544 G>A_RITPNRFYWSVAELDKEADLVHMEV
X:19392700-19392700 C>T	0.0	3881	MELANOMA	-	-	-	-	MAP3K15	uc004czj.2,p.E325K|NM_001001671,p.E890K|uc022btq.1,p.E890K|uc004czk.2,p.E365K|ENST00000359173,p.E325K|ENST00000338883,p.E890K|ENST00000469203,p.E722K	retained_intron, protein_coding, processed_transcript	uc022btq.1	nonsynonymous SNV	exon20	c.G2668A	p.E890K	SAEARAFILSCFEPDPHKRATTAEL	SAEARAFILSCFKPDPHKRATTAEL	1.0	10.0	unscreened	-	3881_X:19392700-19392700 C>T_SAEARAFILSCFKPDPHKRATTAEL
11:56114467-56114467 C>T	0.0	3881	MELANOMA	-	-	-	-	OR8K1	ENST00000279783,p.P318L|NM_001002907,p.P318L|uc010rjg.2,p.P318L	protein_coding	uc010rjg.2	nonsynonymous SNV	exon1	c.C953T	p.P318L	ALKRTLTNRFKIPI	ALKRTLTNRFKILI	1.0	1.0	unscreened	-	3881_11:56114467-56114467 C>T_ALKRTLTNRFKILI
19:22497999-22497999 C>T	0.0	3881	MELANOMA	-	-	-	-	ZNF729	NM_001242680,p.H594Y|uc021urs.1,p.H594Y|ENST00000357491,p.H594Y|ENST00000601693,p.H594Y	protein_coding	uc021urs.1	nonsynonymous SNV	exon4	c.C1780T	p.H594Y	KHFSALRKHKVIHTREKLYKCEECG	KHFSALRKHKVIYTREKLYKCEECG	1.0	9.0	unscreened	-	3881_19:22497999-22497999 C>T_KHFSALRKHKVIYTREKLYKCEECG
14:20665540-20665540 C>T	0.0	3881	MELANOMA	-	-	-	-	OR11G2	uc010tlb.2,p.H16Y|NM_001005503,p.H16Y|ENST00000357366,p.H16Y	protein_coding	uc010tlb.2	nonsynonymous SNV	exon1	c.C46T	p.H16Y	LSQNDLNINLIPHLCLHRHSVIAGA	LSQNDLNINLIPYLCLHRHSVIAGA	1.0	4.0	unscreened	-	3881_14:20665540-20665540 C>T_LSQNDLNINLIPYLCLHRHSVIAGA
X:36091261-36091261 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1756542;OCCURENCE=2(urinary_tract)	-	CHDC2	ENST00000378660,p.E66K|ENST00000313548,p.E66K|NM_173695,p.E66K|uc004ddk.1,p.E66K	protein_coding	uc004ddk.1	nonsynonymous SNV	exon4	c.G196A	p.E66K	AEPAKGNLFIGVEVLPENLHLDESE	AEPAKGNLFIGVKVLPENLHLDESE	1.0	10.0	unscreened	-	3881_X:36091261-36091261 G>A_AEPAKGNLFIGVKVLPENLHLDESE
4:20530691-20530691 C>T	0.0	3881	MELANOMA	-	-	-	-	SLIT2	ENST00000503823,p.P520S|uc003gpr.1,p.P528S|ENST00000504154,p.P528S|NM_004787,p.P528S|uc003gps.1,p.P520S|ENST00000503837,p.P524S|NM_001289135,p.P524S|ENST00000273739,p.P532S|NM_001289136,p.P520S	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon15	c.C1558T	p.P520S	TVDCSNQKLNKIPEHIPQYTAELRL	TVDCSNQKLNKISEHIPQYTAELRL	5.0	2.0	unscreened	-	3881_4:20530691-20530691 C>T_TVDCSNQKLNKISEHIPQYTAELRL
15:49917396-49917396 G>A	1.0	3881	MELANOMA	-	-	-	-	DTWD1	ENST00000558653,p.R11Q|NM_020234,p.R11Q|ENST00000559405,p.R11Q|ENST00000560632,p.R11Q|ENST00000557968,p.R11Q|ENST00000559164,p.R11Q|ENST00000251250,p.R11Q|ENST00000403028,p.R11Q|ENST00000557988,p.R11Q|ENST00000329873,p.R11Q|uc001zxq.3,p.R11Q|NM_001144955,p.R11Q|uc001zxs.3,p.R11Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zxs.3	nonsynonymous SNV	exon2	c.G32A	p.R11Q	MSLNPPIFLKRSEENSSKFVETK	MSLNPPIFLKQSEENSSKFVETK	8.0	10.0	-	-	3881_15:49917396-49917396 G>A_MSLNPPIFLKQSEENSSKFVETK
8:37793313-37793313 C>T	0.0	3881	MELANOMA	-	-	-	-	GOT1L1	NM_152413,p.G280R|ENST00000307599,p.G280R|ENST00000518826,p.G21R|uc011lbj.1,p.G280R	protein_coding	uc011lbj.1	nonsynonymous SNV	exon7	c.G838A	p.G280R	NQQLLCVLSQLEGLAQALWLNPPNT	NQQLLCVLSQLERLAQALWLNPPNT	1.0	6.0	unscreened	-	3881_8:37793313-37793313 C>T_NQQLLCVLSQLERLAQALWLNPPNT
X:50037907-50037907 A>T	0.0	3881	MELANOMA	-	-	-	-	CCNB3	NM_033031,p.K83N|ENST00000476167,p.K83N|uc004dox.4,p.K83N|ENST00000376042,p.K83N|uc004doy.3,p.K83N|ENST00000276014,p.K83N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004doy.3	nonsynonymous SNV	exon4	c.A249T	p.K83N	QCQPVQPKKEANKEFVKVVSKKINR	QCQPVQPKKEANNEFVKVVSKKINR	5.0	10.0	unscreened	-	3881_X:50037907-50037907 A>T_QCQPVQPKKEANNEFVKVVSKKINR
3:99569335-99569335 C>G	0.0	3881	MELANOMA	-	-	-	-	FILIP1L	ENST00000495625,p.Q155H|uc021xbr.1,p.Q155H|NM_001282794,p.Q155H|uc003dto.3,p.Q395H|uc010hpg.3,p.Q155H|uc003dtp.1,p.Q155H|uc003dtm.3,p.Q395H|NM_182909,p.Q395H|NM_001042459,p.Q395H|ENST00000471562,p.Q155H|ENST00000331335,p.Q395H|ENST00000383694,p.Q155H|uc003dtn.3,p.Q155H|ENST00000354552,p.Q395H|NM_014890,p.Q155H	protein_coding, processed_transcript	uc021xbr.1	nonsynonymous SNV	exon1	c.G465C	p.Q155H	EGKDEELIKMEEQCRDLNKRLERET	EGKDEELIKMEEHCRDLNKRLERET	6.0	10.0	unscreened	-	3881_3:99569335-99569335 C>G_EGKDEELIKMEEHCRDLNKRLERET
2:109432472-109432472 G>A	1.0	3881	MELANOMA	-	-	-	-	CCDC138	NM_144978,p.V373M|ENST00000412964,p.V373M|uc002tep.1,p.V57M|uc002ten.1,p.V373M|uc010fjm.1,p.V57M|ENST00000295124,p.V373M|uc002teo.1,p.V373M	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fjm.1	nonsynonymous SNV	exon10	c.G169A	p.V57M	FMDWISDHHLSKVKHEESGMDGKKP	FMDWISDHHLSKMKHEESGMDGKKP	5.0	3.0	unscreened	-	3881_2:109432472-109432472 G>A_FMDWISDHHLSKMKHEESGMDGKKP
3:9032476-9032476 C>T	0.0	3881	MELANOMA	-	-	-	2	SRGAP3	uc003brg.2,p.G845E|NM_014850,p.G869E|uc003brf.2,p.G869E|ENST00000360413,p.G845E|NM_001033117,p.G845E|ENST00000383836,p.G869E	retained_intron, protein_coding, processed_transcript	uc003brg.2	nonsynonymous SNV	exon21	c.G2534A	p.G845E	RSDGAAIPRRRSGGDTHSPPRGLGP	RSDGAAIPRRRSEGDTHSPPRGLGP	7.0	9.0	unscreened	-	3881_3:9032476-9032476 C>T_RSDGAAIPRRRSEGDTHSPPRGLGP
9:137620604-137620604 C>T	0.0	3881	MELANOMA	-	-	-	-	COL5A1	ENST00000371817,p.P292L|uc031tfl.1,p.P292L|uc004cfe.4,p.P292L|NM_000093,p.P292L|NM_001278074,p.P292L	retained_intron, protein_coding, processed_transcript	uc031tfl.1	nonsynonymous SNV	exon6	c.C875T	p.P292L	YEDPEDLGKEPTPSKKPVEAAKETT	YEDPEDLGKEPTLSKKPVEAAKETT	7.0	10.0	unscreened	-	3881_9:137620604-137620604 C>T_YEDPEDLGKEPTLSKKPVEAAKETT
X:119504696-119504696 C>T	0.0	3881	MELANOMA	-	-	-	-	ATP1B4	uc004esq.3,p.P148L|NM_001142447,p.P152L|ENST00000218008,p.P152L|NM_012069,p.P148L|uc004esr.3,p.P152L|ENST00000361319,p.P148L|uc011mtx.2,p.P117L	protein_coding	uc011mtx.2	nonsynonymous SNV	exon3	c.C350T	p.P117L	PYIPTFTERVKPPGVMIRPFAHSLN	PYIPTFTERVKPLGVMIRPFAHSLN	1.0	7.0	unscreened	-	3881_X:119504696-119504696 C>T_PYIPTFTERVKPLGVMIRPFAHSLN
4:65147277-65147277 C>T	0.0	3881	MELANOMA	-	-	-	-	TECRL	NM_001010874,p.G278E|ENST00000507440,p.G278E|uc003hcv.3,p.G278E|ENST00000381210,p.G278E	retained_intron, protein_coding, processed_transcript	uc003hcv.3	nonsynonymous SNV	exon10	c.G833A	p.G278E	FINVMLSHPNHTGNNACFPSPNYNP	FINVMLSHPNHTENNACFPSPNYNP	1.0	10.0	unscreened	-	3881_4:65147277-65147277 C>T_FINVMLSHPNHTENNACFPSPNYNP
X:54014220-54014220 C>T	0.0	3881	MELANOMA	-	-	-	-	PHF8	uc004dsw.3,p.A529T|uc004dsu.3,p.A666T|NM_001184898,p.A630T|uc004dst.3,p.A630T|ENST00000338946,p.A529T|ENST00000338154,p.A630T|uc004dsy.3,p.A630T|NM_015107,p.A630T|uc004dsv.3,p.A496T|NM_001184897,p.A529T|NM_001184896,p.A666T|uc004dsx.3,p.A394T|ENST00000357988,p.A666T|ENST00000322659,p.A630T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004dsy.3	nonsynonymous SNV	exon15	c.G1888A	p.A630T	ELQIDERLGKEKATLIIRPKFPRKL	ELQIDERLGKEKTTLIIRPKFPRKL	8.0	2.0	unscreened	-	3881_X:54014220-54014220 C>T_ELQIDERLGKEKTTLIIRPKFPRKL
8:41554025-41554025 G>A	0.0	3881	MELANOMA	-	-	-	2	ANK1	uc003xoh.3,p.P255L|ENST00000379758,p.P939L|ENST00000352337,p.P939L|ENST00000396945,p.P939L|ENST00000289734,p.P939L|ENST00000396942,p.P939L|NM_020475,p.P939L|NM_001142446,p.P980L|NM_020477,p.P939L|uc003xoi.3,p.P939L|ENST00000265709,p.P980L|uc003xok.3,p.P939L|uc003xol.3,p.P939L|ENST00000347528,p.P939L|uc003xoj.3,p.P939L|NM_000037,p.P939L|uc003xom.3,p.P980L|NM_020476,p.P939L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xom.3	nonsynonymous SNV	exon27	c.C2939T	p.P980L	RGSRHNGLRVVIPPRTCAAPTRITC	RGSRHNGLRVVILPRTCAAPTRITC	2.0	4.0	unscreened	-	3881_8:41554025-41554025 G>A_RGSRHNGLRVVILPRTCAAPTRITC
2:212576779-212576779 G>A	0.0	3881	MELANOMA	-	-	-	1	ERBB4	uc010fut.1,p.H374Y|uc010zjj.1,p.H374Y|ENST00000402597,p.H374Y|uc002veh.1,p.H374Y|uc002veg.1,p.H374Y|ENST00000342788,p.H374Y|NM_005235,p.H374Y|ENST00000436443,p.H374Y|uc010zji.1,p.H374Y|NM_001042599,p.H374Y	retained_intron, protein_coding, processed_transcript	uc010zjj.1	nonsynonymous SNV	exon9	c.C1120T	p.H374Y	INGNLIFLVTGIHGDPYNAIEAIDP	INGNLIFLVTGIYGDPYNAIEAIDP	5.0	3.0	unscreened	-	3881_2:212576779-212576779 G>A_INGNLIFLVTGIYGDPYNAIEAIDP
12:54423654-54423654 C>T	1.0	3881	MELANOMA	-	-	-	-	HOXC6	ENST00000243108,p.L206F|uc001sev.3,p.L206F|NM_153693,p.L124F|uc001ses.3,p.L124F|ENST00000394331,p.L124F|NM_004503,p.L206F	protein_coding	uc001sev.3	nonsynonymous SNV	exon2	c.C616T	p.L206F	MKWKKESNLTSTLSGGGGGATADSL	MKWKKESNLTSTFSGGGGGATADSL	7.0	9.0	-	-	3881_12:54423654-54423654 C>T_MKWKKESNLTSTFSGGGGGATADSL
5:65474611-65474611 C>T	1.0	3881	MELANOMA	-	-	-	-	SREK1	ENST00000380918,p.P481L|uc003juo.4,p.P481L|NM_001077199,p.P597L|NM_001270492,p.P480L|uc010iwy.4,p.P480L|NM_139168,p.P481L|ENST00000334121,p.P597L|uc003jun.4,p.P597L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iwy.4	nonsynonymous SNV	exon13	c.C1439T	p.P480L	SSVSKEVDDKDAPRTEENKIQHNGN	SSVSKEVDDKDALRTEENKIQHNGN	10.0	1.0	unscreened	-	3881_5:65474611-65474611 C>T_SSVSKEVDDKDALRTEENKIQHNGN
11:49059174-49059174 C>T	0.0	3881	MELANOMA	0.0018	-	ID=COSM3809402;OCCURENCE=1(breast)	-	TRIM49B	ENST00000332682,p.T335I|NM_001206626,p.T335I|uc021qix.1,p.T335I	protein_coding	uc021qix.1	nonsynonymous SNV	exon6	c.C1004T	p.T335I	ATPRSFLAWGAQTFTSGKYYWEVHV	ATPRSFLAWGAQIFTSGKYYWEVHV	1.0	5.0	unscreened	-	3881_11:49059174-49059174 C>T_ATPRSFLAWGAQIFTSGKYYWEVHV
6:168434580-168434580 G>A	0.0	3881	MELANOMA	-	-	-	-	KIF25	NM_030615,p.M62I|NM_005355,p.M62I|uc003qwl.1,p.M62I|uc003qwk.1,p.M62I|ENST00000443060,p.M62I|ENST00000351261,p.M62I|ENST00000354419,p.M62I	retained_intron, protein_coding, processed_transcript	uc003qwl.1	nonsynonymous SNV	exon4	c.G186A	p.M62I	LTSLLDGYNVCVMAYGQTGSGKSYT	LTSLLDGYNVCVIAYGQTGSGKSYT	1.0	10.0	unscreened	-	3881_6:168434580-168434580 G>A_LTSLLDGYNVCVIAYGQTGSGKSYT
20:31825905-31825905 G>A	0.0	3881	MELANOMA	-	-	-	-	BPIFA1	uc002wyu.4,p.E69K|ENST00000354297,p.E69K|uc002wyt.4,p.E69K|NM_016583,p.E69K|uc002wyv.3,p.E69K|NM_001243193,p.E69K|ENST00000375413,p.E69K|NM_130852,p.E69K|ENST00000375422,p.E69K	protein_coding	uc002wyv.3	nonsynonymous SNV	exon3	c.G205A	p.E69K	NGLLSGGLLGILENLPLLDILKPGG	NGLLSGGLLGILKNLPLLDILKPGG	1.0	3.0	unscreened	-	3881_20:31825905-31825905 G>A_NGLLSGGLLGILKNLPLLDILKPGG
12:55615512-55615512 A>T	0.0	3881	MELANOMA	-	-	-	-	OR10A7	ENST00000326258,p.Q235L|uc010spf.2,p.Q235L|NM_001005280,p.Q235L	protein_coding	uc010spf.2	nonsynonymous SNV	exon1	c.A704T	p.Q235L	ITILRMSSATGRQKAFSTCSSHLIV	ITILRMSSATGRLKAFSTCSSHLIV	1.0	2.0	unscreened	-	3881_12:55615512-55615512 A>T_ITILRMSSATGRLKAFSTCSSHLIV
1:216011349-216011349 G>A	0.0	3881	MELANOMA	-	-	ID=COSM3710588,COSM3710589;OCCURENCE=1(upper_aerodigestive_tract)	-	USH2A	ENST00000307340,p.R3119C|NM_206933,p.R3119C|uc001hku.1,p.R3119C|ENST00000366943,p.R3119C	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon47	c.C9355T	p.R3119C	EDTPSDIPTPTIRGITSRSLQIDWV	EDTPSDIPTPTICGITSRSLQIDWV	1.0	1.0	unscreened	-	3881_1:216011349-216011349 G>A_EDTPSDIPTPTICGITSRSLQIDWV
7:141794450-141794450 C>T	0.0	3881	MELANOMA	-	-	-	-	MGAM	ENST00000549489,p.S1550F|NM_004668,p.S1550F|uc003vwy.3,p.S1550F|ENST00000475668,p.S2446F	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon39	c.C4649T	p.S1550F	IIGMMEFSLFGISYTGADICGFFQD	IIGMMEFSLFGIFYTGADICGFFQD	3.0	7.0	unscreened	-	3881_7:141794450-141794450 C>T_IIGMMEFSLFGIFYTGADICGFFQD
8:121243837-121243837 G>A	0.0	3881	MELANOMA	-	-	-	-	COL14A1	ENST00000247781,p.E682K|ENST00000309791,p.E777K|uc003yoy.3,p.E455K|NM_021110,p.E777K|uc003yox.4,p.E777K|ENST00000434620,p.E590K|ENST00000297848,p.E777K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yoy.3	nonsynonymous SNV	exon14	c.G1363A	p.E455K	FRVTYMTAQGDPEEEVIGTVMVPGS	FRVTYMTAQGDPKEEVIGTVMVPGS	6.0	9.0	unscreened	-	3881_8:121243837-121243837 G>A_FRVTYMTAQGDPKEEVIGTVMVPGS
3:155200106-155200106 C>T	0.0	3881	MELANOMA	-	-	ID=COSM226092;OCCURENCE=1(NS)	-	PLCH1	NM_001130960,p.G1245R|uc021xgf.1,p.G1207R|ENST00000460012,p.G1207R|ENST00000414191,p.G1207R|ENST00000340059,p.G1245R|NM_014996,p.G1207R|uc021xge.1,p.G1245R|ENST00000334686,p.G1207R	retained_intron, protein_coding	uc021xgf.1	nonsynonymous SNV	exon22	c.G3619A	p.G1207R	GLKMPIKHGFCKGKSKSSFLCSSPE	GLKMPIKHGFCKRKSKSSFLCSSPE	4.0	10.0	unscreened	-	3881_3:155200106-155200106 C>T_GLKMPIKHGFCKRKSKSSFLCSSPE
17:21201731-21201731 C>T	0.0	3881	MELANOMA	-	-	-	-	MAP2K3	uc002gys.3,p.S19F|ENST00000342679,p.S19F|NM_145109,p.S19F|ENST00000496046,p.S19F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gys.3	nonsynonymous SNV	exon2	c.C56T	p.S19F	SQPASMPQSKGKSKRKKDLRISCMS	SQPASMPQSKGKFKRKKDLRISCMS	9.0	1.0	unscreened	-	3881_17:21201731-21201731 C>T_SQPASMPQSKGKFKRKKDLRISCMS
1:159558178-159558178 G>A	0.0	3881	MELANOMA	-	-	-	-	APCS	NM_001639,p.E118K|ENST00000255040,p.E118K|uc001ftv.3,p.E118K	protein_coding	uc001ftv.3	nonsynonymous SNV	exon2	c.G352A	p.E118K	KFPAPVHICVSWESSSGIAEFWING	KFPAPVHICVSWKSSSGIAEFWING	1.0	1.0	unscreened	-	3881_1:159558178-159558178 G>A_KFPAPVHICVSWKSSSGIAEFWING
4:36121314-36121314 C>T	0.0	3881	MELANOMA	-	-	-	-	ARAP2	ENST00000303965,p.M1307I|NM_015230,p.M1307I|uc003gsq.2,p.M1307I	retained_intron, protein_coding, processed_transcript	uc003gsq.2	nonsynonymous SNV	exon24	c.G3921A	p.M1307I	EIFEVKEDQVKQMDIENSFITKWKD	EIFEVKEDQVKQIDIENSFITKWKD	6.0	8.0	unscreened	-	3881_4:36121314-36121314 C>T_EIFEVKEDQVKQIDIENSFITKWKD
2:179395555-179395555 C>T	0.0	3881	MELANOMA	-	-	-	-	TTN	uc021vsy.2,p.A32695T|NM_001256850,p.A33622T|uc031rqc.1,p.A35263T|uc021vtb.2,p.A26198T|uc021vta.2,p.A26323T|uc031rqd.1,p.A33622T|NM_133437,p.A26390T|NM_133378,p.A32695T|NM_001267550,p.A35263T|uc021vsz.2,p.A26390T|NM_003319,p.A26198T|ENST00000460472,p.A26198T|NM_133432,p.A26323T|ENST00000342992,p.A32695T|ENST00000359218,p.A26323T|ENST00000342175,p.A26390T	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon308	c.G100864A	p.A33622T	KRVKSPEPSHPKAVSPTETKPTPTE	KRVKSPEPSHPKTVSPTETKPTPTE	2.0	1.0	unscreened	-	3881_2:179395555-179395555 C>T_KRVKSPEPSHPKTVSPTETKPTPTE
4:39436220-39436220 G>A	0.0	3881	MELANOMA	-	-	-	-	KLB	NM_175737,p.E406K|uc011byj.2,p.E406K|ENST00000257408,p.E406K|uc003gua.3,p.E406K	protein_coding	uc011byj.2	nonsynonymous SNV	exon2	c.G1216A	p.E406K	LNLREALNWIKLEYNNPRILIAENG	LNLREALNWIKLKYNNPRILIAENG	1.0	2.0	unscreened	-	3881_4:39436220-39436220 G>A_LNLREALNWIKLKYNNPRILIAENG
1:160520777-160520777 T>C	0.0	3881	MELANOMA	-	-	-	-	CD84	uc001fwg.4,p.N281S|uc001fwi.4,p.N156S|ENST00000534968,p.N156S|uc001fwf.4,p.N270S|ENST00000311224,p.N287S|uc001fwh.4,p.N287S|NM_001184879,p.N287S|ENST00000368054,p.N270S|ENST00000368048,p.N281S|NM_003874,p.N270S|NM_001184882,p.N156S	protein_coding, processed_transcript	uc001fwi.4	nonsynonymous SNV	exon4	c.A467G	p.N156S	KKTIYTYIMASRNTQPAESRIYDEI	KKTIYTYIMASRSTQPAESRIYDEI	7.0	10.0	unscreened	-	3881_1:160520777-160520777 T>C_KKTIYTYIMASRSTQPAESRIYDEI
2:47256510-47256510 C>T	0.0	3881	MELANOMA	-	-	-	-	TTC7A	uc010fbc.3,p.P243S|NM_001288951,p.P597S|ENST00000263737,p.P243S|uc002rvq.3,p.P337S|NM_001288955,p.P243S|ENST00000409245,p.P563S|NM_020458,p.P597S|ENST00000394850,p.P597S|NM_001288953,p.P563S|uc002rvp.3,p.P478S|uc002rvo.3,p.P597S|uc002rvr.3,p.P46S|uc010fbb.3,p.P597S|ENST00000319190,p.P597S|uc002rvm.3,p.P563S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fbc.3	nonsynonymous SNV	exon14	c.C727T	p.P243S	ALDVVNMAITEHPENFNLMFTKVKL	ALDVVNMAITEHSENFNLMFTKVKL	6.0	2.0	unscreened	-	3881_2:47256510-47256510 C>T_ALDVVNMAITEHSENFNLMFTKVKL
2:230911135-230911135 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC16A14	NM_152527,p.S236F|ENST00000295190,p.S236F|uc002vqe.3,p.S236F|uc002vqd.2,p.S236F|ENST00000412034,p.S236F|ENST00000457406,p.S236F|uc002vqf.3,p.S236F	protein_coding	uc002vqf.3	nonsynonymous SNV	exon4	c.C707T	p.S236F	KDVRGLPAHSTESVKSTGQQGRTEE	KDVRGLPAHSTEFVKSTGQQGRTEE	4.0	7.0	unscreened	-	3881_2:230911135-230911135 G>A_KDVRGLPAHSTEFVKSTGQQGRTEE
10:50594805-50594805 G>A	0.0	3881	MELANOMA	-	-	-	-	DRGX	uc021pqd.2,p.P112S|NM_001276451,p.P112S|uc010qgq.2,p.P117S|ENST00000434016,p.P117S|ENST00000374139,p.P112S	protein_coding	uc021pqd.2	nonsynonymous SNV	exon5	c.C334T	p.P112S	PGAKEPMAEVTPPPVRNINSPPPGD	PGAKEPMAEVTPSPVRNINSPPPGD	1.0	1.0	unscreened	-	3881_10:50594805-50594805 G>A_PGAKEPMAEVTPSPVRNINSPPPGD
18:29104706-29104706 T>C	1.0	3881	MELANOMA	-	-	-	-	DSG2	NM_001943,p.V290A|uc002kwu.4,p.V290A|ENST00000261590,p.V290A	protein_coding	uc002kwu.4	nonsynonymous SNV	exon8	c.T869C	p.V290A	EGMVEENQVNVEVTRIKVFDADEIG	EGMVEENQVNVEATRIKVFDADEIG	8.0	7.0	unscreened	-	3881_18:29104706-29104706 T>C_EGMVEENQVNVEATRIKVFDADEIG
12:117907504-117907504 G>A	0.0	3881	MELANOMA	-	-	-	-	KSR2	NM_173598,p.R908C|uc001two.2,p.R908C|ENST00000339824,p.R937C|ENST00000425217,p.R908C	retained_intron, protein_coding, processed_transcript	uc001two.2	nonsynonymous SNV	exon19	c.C2722T	p.R908C	MDMLEKLPKRNRRLSHPGHFWKSAE	MDMLEKLPKRNRCLSHPGHFWKSAE	1.0	3.0	unscreened	-	3881_12:117907504-117907504 G>A_MDMLEKLPKRNRCLSHPGHFWKSAE
2:169847372-169847372 C>T	0.0	3881	MELANOMA	-	-	-	-	ABCB11	ENST00000263817,p.E283K|NM_003742,p.E283K|uc002ueo.1,p.E283K	retained_intron, protein_coding, nonsense_mediated_decay	uc002ueo.1	nonsynonymous SNV	exon9	c.G847A	p.E283K	LKAYAKAGVVADEVISSMRTVAAFG	LKAYAKAGVVADKVISSMRTVAAFG	1.0	7.0	unscreened	-	3881_2:169847372-169847372 C>T_LKAYAKAGVVADKVISSMRTVAAFG
17:48765033-48765033 G>A	0.0	3881	MELANOMA	-	-	-	-	ABCC3	uc002isl.3,p.D1473N|NM_003786,p.D1473N|uc002isn.3,p.D227N|ENST00000285238,p.D1473N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002isn.3	nonsynonymous SNV	exon5	c.G679A	p.D227N	DNLIQATIRTQFDTCTVLTIAHRLN	DNLIQATIRTQFNTCTVLTIAHRLN	5.0	7.0	unscreened	-	3881_17:48765033-48765033 G>A_DNLIQATIRTQFNTCTVLTIAHRLN
3:3888102-3888102 G>A	0.0	3881	MELANOMA	-	-	-	-	LRRN1	NM_020873,p.E593K|ENST00000319331,p.E593K|uc003bpt.4,p.E593K|uc021wsh.1,p.E593K	retained_intron, protein_coding, processed_transcript	uc021wsh.1	nonsynonymous SNV	exon1	c.G1777A	p.E593K	YNLTHLQPSTDYEVCLTVSNIHQQT	YNLTHLQPSTDYKVCLTVSNIHQQT	1.0	10.0	unscreened	-	3881_3:3888102-3888102 G>A_YNLTHLQPSTDYKVCLTVSNIHQQT
12:69230512-69230512 C>T	1.0	3881	MELANOMA	-	-	-	1	MDM2	NM_002392,p.P301S|ENST00000360430,p.P100S|ENST00000258149,p.P240S|ENST00000523991,p.P125S|ENST00000462284,p.P301S|ENST00000540827,p.P100S|ENST00000258148,p.P246S|uc001sui.4,p.P301S|NM_001145339,p.P246S|ENST00000350057,p.P270S|ENST00000356290,p.P125S|ENST00000299252,p.P125S|uc021rah.2,p.P265S|uc021rad.2,p.P194S|uc001suo.4,p.P95S|NM_001278462,p.P125S|NM_001145337,p.P248S|uc001sun.5,p.P120S|uc009zqx.4,p.P246S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rah.2	nonsynonymous SNV	exon8	c.C793T	p.P265S	AGESDTDSFEEDPEISLADYWKCTS	AGESDTDSFEEDSEISLADYWKCTS	9.0	3.0	unscreened	-	3881_12:69230512-69230512 C>T_AGESDTDSFEEDSEISLADYWKCTS
1:35223655-35223655 G>A	0.0	3881	MELANOMA	-	-	-	-	GJB5	NM_005268,p.D242N|uc001bxu.4,p.D242N|uc021okz.1,p.D242N|ENST00000338513,p.D242N	protein_coding	uc021okz.1	nonsynonymous SNV	exon1	c.G724A	p.D242N	HPHGTTSSCKQDDLLSGDLIFLGSD	HPHGTTSSCKQDNLLSGDLIFLGSD	1.0	3.0	unscreened	-	3881_1:35223655-35223655 G>A_HPHGTTSSCKQDNLLSGDLIFLGSD
10:61831995-61831995 G>A	0.0	3881	MELANOMA	-	-	-	-	ANK3	NM_020987,p.H2882Y|ENST00000280772,p.H2882Y|uc001jky.3,p.H2882Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.C8644T	p.H2882Y	LSHVLVHDVRENHIGHPESKSVDQK	LSHVLVHDVRENYIGHPESKSVDQK	3.0	1.0	unscreened	-	3881_10:61831995-61831995 G>A_LSHVLVHDVRENYIGHPESKSVDQK
19:54392993-54392993 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1481462,COSM440232;OCCURENCE=1(skin),1(breast)	-	PRKCG	uc002qcq.1,p.M129I|uc010yeg.1,p.M129I|ENST00000536044,p.M129I|ENST00000540413,p.M129I|NM_002739,p.M129I|uc010yef.1,p.M129I|ENST00000263431,p.M129I|uc010eqz.1,p.M129I	protein_coding	uc010yeg.1	nonsynonymous SNV	exon4	c.G387A	p.M129I	CGSLLYGLVHQGMKCSCCEMNVHRR	CGSLLYGLVHQGIKCSCCEMNVHRR	1.0	8.0	unscreened	-	3881_19:54392993-54392993 G>A_CGSLLYGLVHQGIKCSCCEMNVHRR
5:56777664-56777664 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1069084;OCCURENCE=1(endometrium)	-	ACTBL2	NM_001017992,p.R291C|uc003jrm.3,p.R291C|ENST00000423391,p.R291C	protein_coding	uc003jrm.3	nonsynonymous SNV	exon1	c.C871T	p.R291C	TFNSIMKCDVDIRKDLYANTVLSGG	TFNSIMKCDVDICKDLYANTVLSGG	1.0	2.0	unscreened	-	3881_5:56777664-56777664 G>A_TFNSIMKCDVDICKDLYANTVLSGG
5:13766140-13766140 G>A	0.0	3881	MELANOMA	-	-	-	-	DNAH5	ENST00000265104,p.S3349F|NM_001369,p.S3349F|uc003jfd.2,p.S3349F	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon59	c.C10046T	p.S3349F	VKIDLEKSCTMPSWQESLKLMTAGN	VKIDLEKSCTMPFWQESLKLMTAGN	1.0	5.0	unscreened	-	3881_5:13766140-13766140 G>A_VKIDLEKSCTMPFWQESLKLMTAGN
2:179579120-179579120 A>G	0.0	3881	MELANOMA	-	-	-	-	TTN	NM_133378,p.L7550S|uc031rqd.1,p.L8477S|uc002umz.1,p.L4211S|ENST00000591111,p.L8477S|NM_001256850,p.L8477S|uc021vsy.2,p.L7550S|ENST00000589042,p.L8794S|ENST00000342992,p.L7550S|uc031rqc.1,p.L8794S|NM_001267550,p.L8794S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon89	c.T25430C	p.L8477S	NIWISYSENIATLQFSRVEPANAGK	NIWISYSENIATSQFSRVEPANAGK	2.0	9.0	unscreened	-	3881_2:179579120-179579120 A>G_NIWISYSENIATSQFSRVEPANAGK
18:29340039-29340039 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC25A52	ENST00000269205,p.P206S|ENST00000579441,p.P196S|uc002kxa.3,p.P206S|NM_001034172,p.P206S	protein_coding	uc002kxa.3	nonsynonymous SNV	exon1	c.C616T	p.P206S	GLSNVLFFGLRGPIKEHLPTATTHS	GLSNVLFFGLRGSIKEHLPTATTHS	2.0	8.0	unscreened	-	3881_18:29340039-29340039 G>A_GLSNVLFFGLRGSIKEHLPTATTHS
3:54798272-54798272 C>T	0.0	3881	MELANOMA	-	-	-	-	CACNA2D3	ENST00000477024,p.A331V|uc003dhf.3,p.A425V|ENST00000474759,p.A425V|uc010hmv.1,p.A159V|ENST00000471363,p.A331V|uc003dhg.1,p.A331V|ENST00000415676,p.A425V|ENST00000490478,p.A331V|ENST00000288197,p.A425V|NM_018398,p.A425V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hmv.1	nonsynonymous SNV	exon11	c.C476T	p.A159V	ANKGFFTQISTLADVQENVMEYLHV	ANKGFFTQISTLVDVQENVMEYLHV	1.0	2.0	unscreened	-	3881_3:54798272-54798272 C>T_ANKGFFTQISTLVDVQENVMEYLHV
14:100563993-100563993 G>A	0.0	3881	MELANOMA	-	-	-	-	EVL	ENST00000553875,p.G119E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000553875	nonsynonymous SNV	exon3	c.G356A	p.G119E	MLFALNIMNSQEGGACIL	MLFALNIMNSQEEGACIL	9.0	6.0	unscreened	-	3881_14:100563993-100563993 G>A_MLFALNIMNSQEEGACIL
2:155102397-155102397 G>A	0.0	3881	MELANOMA	-	-	-	-	GALNT13	ENST00000409237,p.M253I|ENST00000392825,p.M253I|NM_052917,p.M253I|uc002tyr.4,p.M253I|uc002tyt.4,p.M253I|uc010foc.1,p.M72I|NM_001301627,p.M253I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010foc.1	nonsynonymous SNV	exon5	c.G216A	p.M72I	SDDTFEYMAGSDMTYGGFNWKLNFR	SDDTFEYMAGSDITYGGFNWKLNFR	1.0	6.0	unscreened	-	3881_2:155102397-155102397 G>A_SDDTFEYMAGSDITYGGFNWKLNFR
6:42147050-42147050 G>A	0.0	3881	MELANOMA	-	-	ID=COSM451464;OCCURENCE=1(breast)	-	GUCA1A	uc011duo.3,p.R172Q|ENST00000372958,p.R172Q|ENST00000394237,p.R172Q|uc010jxt.3,p.R172Q|NM_000409,p.R172Q|uc003orx.3,p.R172Q|ENST00000541991,p.R172Q|ENST00000053469,p.R172Q	protein_coding	uc011duo.3	nonsynonymous SNV	exon6	c.G515A	p.R172Q	VQKDQMLLDTLTRSLDLTRIVRRLQ	VQKDQMLLDTLTQSLDLTRIVRRLQ	1.0	4.0	unscreened	-	3881_6:42147050-42147050 G>A_VQKDQMLLDTLTQSLDLTRIVRRLQ
19:9004881-9004881 G>A	0.0	3881	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.P13313S|uc010dwj.3,p.P130S|uc002mkp.3,p.P13313S|NM_024690,p.P13313S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dwj.3	nonsynonymous SNV	exon5	c.C388T	p.P130S	VQPETSETPSSLPGPTATGPVLLPF	VQPETSETPSSLSGPTATGPVLLPF	1.0	9.0	unscreened	-	3881_19:9004881-9004881 G>A_VQPETSETPSSLSGPTATGPVLLPF
5:79363908-79363908 C>T	0.0	3881	MELANOMA	-	-	-	-	THBS4	ENST00000350881,p.A436V|NM_003248,p.A436V|uc021yaw.1,p.A436V|ENST00000511733,p.A345V	protein_coding, processed_transcript	uc021yaw.1	nonsynonymous SNV	exon10	c.C1307T	p.A436V	CRNPELNPCSVNAQCIEERQGDVTC	CRNPELNPCSVNVQCIEERQGDVTC	5.0	7.0	unscreened	-	3881_5:79363908-79363908 C>T_CRNPELNPCSVNVQCIEERQGDVTC
13:95858848-95858848 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1706907,COSM1706908;OCCURENCE=1(skin)	-	ABCC4	ENST00000431522,p.L367F|NM_001301829,p.L367F|uc001vmf.2,p.L324F|NM_001301830,p.L292F|ENST00000536256,p.L292F|uc010afm.1,p.L380F|uc010afk.3,p.L367F|uc010tih.1,p.L292F|NM_005845,p.L367F|ENST00000412704,p.L367F|uc010afl.1,p.L324F|NM_001105515,p.L367F|ENST00000376887,p.L367F|uc001vme.2,p.L367F|uc001vmd.4,p.L367F	protein_coding, processed_transcript	uc010tih.1	nonsynonymous SNV	exon7	c.C874T	p.L292F	VTLYGAVRLTVTLFFPSAIERVSEA	VTLYGAVRLTVTFFFPSAIERVSEA	4.0	7.0	unscreened	-	3881_13:95858848-95858848 G>A_VTLYGAVRLTVTFFFPSAIERVSEA
15:90176155-90176155 C>T	0.0	3881	MELANOMA	-	-	-	-	KIF7	ENST00000394412,p.E931K|NM_198525,p.E931K|uc002bof.2,p.E931K|uc010upw.1,p.E417K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010upw.1	nonsynonymous SNV	exon9	c.G1249A	p.E417K	MEKVLQQRRALEELGEELHKREAIL	MEKVLQQRRALEKLGEELHKREAIL	2.0	10.0	unscreened	-	3881_15:90176155-90176155 C>T_MEKVLQQRRALEKLGEELHKREAIL
20:62859375-62859375 C>T	0.0	3881	MELANOMA	-	-	-	-	MYT1	uc002yih.3,p.S588L|ENST00000360149,p.S588L	protein_coding	uc002yih.3	nonsynonymous SNV	exon16	c.C1763T	p.S588L	CWLFHCIAELRFSCVL	CWLFHCIAELRFLCVL	1.0	7.0	unscreened	-	3881_20:62859375-62859375 C>T_CWLFHCIAELRFLCVL
12:85277807-85277807 T>G	1.0	3881	MELANOMA	-	-	-	-	SLC6A15	uc010sul.3,p.E89A|NM_182767,p.E196A|uc001szy.4,p.E196A|NM_018057,p.E196A|ENST00000266682,p.E196A|uc001szv.4,p.E196A|NM_001146335,p.E89A|ENST00000450363,p.E196A|ENST00000552192,p.E89A	protein_coding, processed_transcript	uc010sul.3	nonsynonymous SNV	exon4	c.A266C	p.E89A	LVKNASHTFVEPECEQSSATTYYWY	LVKNASHTFVEPACEQSSATTYYWY	9.0	5.0	unscreened	-	3881_12:85277807-85277807 T>G_LVKNASHTFVEPACEQSSATTYYWY
19:51920458-51920458 T>C	0.0	3881	MELANOMA	-	-	-	-	SIGLEC10	uc010ycy.2,p.N100S|NM_001171158,p.N100S|uc002pws.2,p.N100S|ENST00000353836,p.N100S|uc002pwr.3,p.N100S|ENST00000441969,p.N100S|uc002pwp.3,p.N100S|ENST00000530476,p.N67S|ENST00000525998,p.N100S|NM_001171161,p.N100S|ENST00000442846,p.N100S|ENST00000339313,p.N100S|NM_001171159,p.N100S|ENST00000356298,p.N100S|NM_033130,p.N100S|NM_001171156,p.N100S|ENST00000436984,p.N100S|uc002pwq.3,p.N100S|NM_001171157,p.N100S|uc002pwo.3,p.N100S|uc010ycz.2,p.N100S|ENST00000439889,p.N100S|ENST00000432469,p.N100S	retained_intron, protein_coding	uc010ycz.2	nonsynonymous SNV	exon2	c.A299G	p.N100S	GRFQLTGDPAKGNCSLVIRDAQMQD	GRFQLTGDPAKGSCSLVIRDAQMQD	5.0	6.0	unscreened	-	3881_19:51920458-51920458 T>C_GRFQLTGDPAKGSCSLVIRDAQMQD
20:22562552-22562552 G>A	0.0	3881	MELANOMA	-	-	-	-	FOXA2	ENST00000319993,p.P443L|NM_021784,p.P443L|NM_153675,p.P437L|uc002wsn.3,p.P437L|ENST00000419308,p.P437L|uc002wsm.3,p.P443L|ENST00000377115,p.P437L	protein_coding	uc002wsn.3	nonsynonymous SNV	exon3	c.C1310T	p.P437L	GPVTNKTGLDASPLAADTSYYQGVY	GPVTNKTGLDASLLAADTSYYQGVY	1.0	5.0	unscreened	-	3881_20:22562552-22562552 G>A_GPVTNKTGLDASLLAADTSYYQGVY
7:31614179-31614179 G>A	0.0	3881	MELANOMA	-	-	-	-	CCDC129	uc011kae.3,p.E167K|ENST00000454513,p.E141K|NM_001257968,p.E167K|ENST00000451887,p.E167K|ENST00000407970,p.E141K|uc003tci.1,p.E140K|uc003tck.1,p.E49K|NM_001257967,p.E151K|ENST00000319386,p.E141K|ENST00000456011,p.E141K|uc011kad.1,p.E151K|uc003tcj.1,p.E141K|ENST00000409210,p.E49K|NM_194300,p.E141K	retained_intron, protein_coding, processed_transcript	uc011kae.3	nonsynonymous SNV	exon7	c.G499A	p.E167K	VPQSIPEWLEFWEIDPVEILLDLGF	VPQSIPEWLEFWKIDPVEILLDLGF	4.0	5.0	unscreened	-	3881_7:31614179-31614179 G>A_VPQSIPEWLEFWKIDPVEILLDLGF
9:113208196-113208196 C>T	0.0	3881	MELANOMA	-	-	-	-	SVEP1	NM_153366,p.D1462N|uc010mua.1,p.D1462N|ENST00000374469,p.D1439N|uc010mtz.3,p.D1462N|ENST00000302728,p.D1462N|ENST00000401783,p.D1462N	protein_coding, processed_transcript	uc010mua.1	nonsynonymous SNV	exon26	c.G4384A	p.D1462N	ALTCTFWMKSSDDMNYGTPISYAVD	ALTCTFWMKSSDNMNYGTPISYAVD	2.0	10.0	unscreened	-	3881_9:113208196-113208196 C>T_ALTCTFWMKSSDNMNYGTPISYAVD
3:10442739-10442739 G>C	0.0	3881	MELANOMA	-	-	-	-	ATP2B2	uc003bvw.3,p.L227V|ENST00000397077,p.L227V|ENST00000460129,p.L227V|uc003bvt.3,p.L227V|ENST00000383800,p.L227V|ENST00000360273,p.L227V|ENST00000343816,p.L227V|ENST00000452124,p.L114V|uc010hdp.2,p.L227V|NM_001001331,p.L227V|NM_001683,p.L227V|uc003bvv.3,p.L227V|ENST00000352432,p.L227V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hdp.2	nonsynonymous SNV	exon5	c.C679G	p.L227V	QVKYGDLLPADGLFIQGNDLKIDES	QVKYGDLLPADGVFIQGNDLKIDES	3.0	9.0	unscreened	-	3881_3:10442739-10442739 G>C_QVKYGDLLPADGVFIQGNDLKIDES
X:144904248-144904248 G>A	0.0	3881	MELANOMA	-	-	ID=COSM231497;OCCURENCE=1(skin)	-	SLITRK2	ENST00000428560,p.R102Q|uc011mws.2,p.R102Q|uc004fcg.3,p.R102Q|uc022cfn.1,p.R102Q|uc010nsp.3,p.R102Q|NM_001144010,p.R102Q|ENST00000413937,p.R102Q|ENST00000370490,p.R102Q|NM_001144005,p.R102Q|ENST00000434188,p.R102Q|uc011mwt.2,p.R102Q|NM_001144009,p.R102Q|NM_001144004,p.R102Q|NM_032539,p.R102Q|uc011mwq.2,p.R102Q|NM_001144003,p.R102Q|uc010nso.3,p.R102Q|uc004fcd.3,p.R102Q|ENST00000335565,p.R102Q|NM_001144006,p.R102Q|NM_001144008,p.R102Q|uc011mwr.2,p.R102Q|ENST00000447897,p.R102Q	protein_coding	uc022cfn.1	nonsynonymous SNV	exon1	c.G305A	p.R102Q	TLHLGNNGLQEIRTGAFSGLKTLKR	TLHLGNNGLQEIQTGAFSGLKTLKR	5.0	1.0	unscreened	-	3881_X:144904248-144904248 G>A_TLHLGNNGLQEIQTGAFSGLKTLKR
12:48372510-48372510 G>A	0.0	3881	MELANOMA	-	-	-	1	COL2A1	NM_001844,p.P922L|NM_033150,p.P853L|uc001rqu.3,p.P922L|uc001rqv.3,p.P853L|ENST00000380518,p.P922L|ENST00000337299,p.P853L	retained_intron, protein_coding, processed_transcript	uc001rqv.3	nonsynonymous SNV	exon41	c.C2558T	p.P853L	SNGNPGPPGPPGPSGKDGPKGARGD	SNGNPGPPGPPGLSGKDGPKGARGD	4.0	5.0	unscreened	-	3881_12:48372510-48372510 G>A_SNGNPGPPGPPGLSGKDGPKGARGD
5:140574404-140574404 G>A	0.0	3881	MELANOMA	-	-	-	-	PCDHB10	ENST00000239446,p.G760D|NM_018930,p.G760D|uc003lix.3,p.G760D	protein_coding	uc003lix.3	nonsynonymous SNV	exon1	c.G2279A	p.G760D	SQSYQYEVCLTGGPGTSEFKFLKPV	SQSYQYEVCLTGDPGTSEFKFLKPV	5.0	9.0	unscreened	-	3881_5:140574404-140574404 G>A_SQSYQYEVCLTGDPGTSEFKFLKPV
X:151130965-151130965 C>T	0.0	3881	MELANOMA	-	-	-	-	GABRE	NM_004961,p.E165K|ENST00000370328,p.E165K|uc004ffi.3,p.E165K|ENST00000370325,p.E165K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ffi.3	nonsynonymous SNV	exon4	c.G493A	p.E165K	PDTFFRNSKRTHEHEITMPNQMVRI	PDTFFRNSKRTHKHEITMPNQMVRI	4.0	1.0	unscreened	-	3881_X:151130965-151130965 C>T_PDTFFRNSKRTHKHEITMPNQMVRI
12:78571464-78571464 C>T	0.0	3881	MELANOMA	-	-	-	-	NAV3	uc001syp.3,p.R1788W|ENST00000397909,p.R1788W|NM_001024383,p.R1788W	retained_intron, protein_coding, processed_transcript	uc001syp.3	nonsynonymous SNV	exon28	c.C5362T	p.R1788W	RQNGPVIYKHRSRICECTEAEAEII	RQNGPVIYKHRSWICECTEAEAEII	7.0	6.0	unscreened	-	3881_12:78571464-78571464 C>T_RQNGPVIYKHRSWICECTEAEAEII
15:83931848-83931848 G>A	0.0	3881	MELANOMA	-	-	-	-	BNC1	NM_001717,p.R719C|ENST00000569704,p.R712C|NM_001301206,p.R712C|ENST00000345382,p.R719C|uc010uos.1,p.R707C|uc002bjt.1,p.R719C	protein_coding	uc010uos.1	nonsynonymous SNV	exon4	c.C2119T	p.R707C	GQHALARQIEENRFQCDICKKTFKN	GQHALARQIEENCFQCDICKKTFKN	1.0	2.0	unscreened	-	3881_15:83931848-83931848 G>A_GQHALARQIEENCFQCDICKKTFKN
4:86915849-86915849 G>A	1.0	3881	MELANOMA	-	-	-	-	ARHGAP24	NM_001042669,p.E253K|uc003hpm.3,p.E255K|ENST00000395183,p.E253K|uc003hpk.3,p.E348K|NM_001025616,p.E348K|uc003hpl.3,p.E253K|ENST00000264343,p.E255K|NM_001287805,p.E263K|ENST00000514229,p.E263K|ENST00000395184,p.E348K|NM_031305,p.E255K|uc010ikf.3,p.E263K	retained_intron, protein_coding, processed_transcript	uc010ikf.3	nonsynonymous SNV	exon7	c.G787A	p.E263K	QSKPQDGVSNNNEIQKKATMGQLQN	QSKPQDGVSNNNKIQKKATMGQLQN	8.0	9.0	-	-	3881_4:86915849-86915849 G>A_QSKPQDGVSNNNKIQKKATMGQLQN
19:36333042-36333042 C>T	0.0	3881	MELANOMA	-	-	-	-	NPHS1	ENST00000378910,p.D883N|ENST00000353632,p.D883N|uc002oby.3,p.D883N|NM_004646,p.D883N	retained_intron, protein_coding	uc002oby.3	nonsynonymous SNV	exon19	c.G2647A	p.D883N	IVFTWTKNGVPLDLQDPRYTEHTYH	IVFTWTKNGVPLNLQDPRYTEHTYH	2.0	10.0	unscreened	-	3881_19:36333042-36333042 C>T_IVFTWTKNGVPLNLQDPRYTEHTYH
17:74019594-74019594 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1710816;OCCURENCE=1(skin)	-	EVPL	NM_001988,p.E114K|ENST00000301607,p.E114K|uc002jqi.2,p.E114K|uc010wss.1,p.E114K|ENST00000586740,p.E114K	retained_intron, protein_coding	uc010wss.1	nonsynonymous SNV	exon3	c.G340A	p.E114K	DKARRLKHPQAEEIEKDIKQLHERV	DKARRLKHPQAEKIEKDIKQLHERV	1.0	4.0	unscreened	-	3881_17:74019594-74019594 C>T_DKARRLKHPQAEKIEKDIKQLHERV
19:56466740-56466740 C>T	0.0	3881	MELANOMA	-	-	-	-	NLRP8	uc002qmh.3,p.A439V|NM_176811,p.A439V|ENST00000590542,p.A439V|ENST00000291971,p.A439V|uc010etg.3,p.A439V	protein_coding	uc010etg.3	nonsynonymous SNV	exon3	c.C1316T	p.A439V	FVRYISSLFPTRAENFSRKIHQAQL	FVRYISSLFPTRVENFSRKIHQAQL	1.0	7.0	unscreened	-	3881_19:56466740-56466740 C>T_FVRYISSLFPTRVENFSRKIHQAQL
4:185038146-185038146 C>T	0.0	3881	MELANOMA	-	-	-	-	ENPP6	ENST00000296741,p.D240N|ENST00000512353,p.D152N|uc003iwc.3,p.D240N|NM_153343,p.D240N	retained_intron, protein_coding	uc003iwc.3	nonsynonymous SNV	exon5	c.G718A	p.D240N	GLQDRLNVIIFSDHGMTDIFWMDKV	GLQDRLNVIIFSNHGMTDIFWMDKV	1.0	2.0	unscreened	-	3881_4:185038146-185038146 C>T_GLQDRLNVIIFSNHGMTDIFWMDKV
17:3831315-3831315 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1721526;OCCURENCE=2(NS)	-	ATP2A3	ENST00000397039,p.R184C|uc010ckn.2,p.R102C|ENST00000572116,p.R109C	retained_intron, protein_coding	uc010ckn.2	nonsynonymous SNV	exon4	c.C304T	p.R102C	SRNHMHGPGTQHRLAVRAAQRGRKQ	SRNHMHGPGTQHCLAVRAAQRGRKQ	6.0	5.0	unscreened	-	3881_17:3831315-3831315 G>A_SRNHMHGPGTQHCLAVRAAQRGRKQ
X:107842049-107842049 G>A	0.0	3881	MELANOMA	-	-	-	-	COL4A5	ENST00000328300,p.E633K|NM_000495,p.E633K|uc004enz.2,p.E633K|ENST00000361603,p.E633K|uc004eob.1,p.E241K|uc022ccg.2,p.E633K	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon25	c.G1897A	p.E633K	GPPGFGPPGPVGEKGIQGVAGNPGQ	GPPGFGPPGPVGKKGIQGVAGNPGQ	8.0	1.0	unscreened	-	3881_X:107842049-107842049 G>A_GPPGFGPPGPVGKKGIQGVAGNPGQ
11:7981900-7981900 C>T	0.0	3881	MELANOMA	-	-	ID=COSM223440;OCCURENCE=1(skin)	-	NLRP10	uc001mfv.1,p.G420E|ENST00000328600,p.G420E|NM_176821,p.G420E	protein_coding	uc001mfv.1	nonsynonymous SNV	exon2	c.G1259A	p.G420E	RVLRSLCSLAAEGIQHQRFLFEEAE	RVLRSLCSLAAEEIQHQRFLFEEAE	1.0	9.0	unscreened	-	3881_11:7981900-7981900 C>T_RVLRSLCSLAAEEIQHQRFLFEEAE
5:90024631-90024631 G>A	0.0	3881	MELANOMA	-	-	-	-	GPR98	ENST00000405460,p.R3436K|NM_032119,p.R3436K|uc003kjv.3,p.R1036K|uc003kju.3,p.R3436K	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon17	c.G3107A	p.R1036K	SQANARLNSLLFRWSGSGFINFQEV	SQANARLNSLLFKWSGSGFINFQEV	4.0	6.0	unscreened	-	3881_5:90024631-90024631 G>A_SQANARLNSLLFKWSGSGFINFQEV
13:103338602-103338602 C>G	0.0	3881	MELANOMA	-	-	-	-	METTL21C	ENST00000267273,p.A192P|NM_001010977,p.A192P|uc001vpj.4,p.A192P	protein_coding	uc001vpj.4	nonsynonymous SNV	exon4	c.G574C	p.A192P	FPKSAFYYDYVLASDVVYHHYFLDK	FPKSAFYYDYVLPSDVVYHHYFLDK	1.0	8.0	unscreened	-	3881_13:103338602-103338602 C>G_FPKSAFYYDYVLPSDVVYHHYFLDK
5:59901630-59901630 G>A	0.0	3881	MELANOMA	-	-	-	-	DEPDC1B	ENST00000453022,p.L318F|ENST00000265036,p.L318F|ENST00000545085,p.L291F|uc003jsh.3,p.L318F|uc011cqn.2,p.L291F|uc011cqm.2,p.L318F|NM_018369,p.L318F|NM_001145208,p.L318F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cqn.2	nonsynonymous SNV	exon9	c.C871T	p.L291F	KVAVEAFQICCLLLPPENRRKLQLL	KVAVEAFQICCLFLPPENRRKLQLL	6.0	4.0	unscreened	-	3881_5:59901630-59901630 G>A_KVAVEAFQICCLFLPPENRRKLQLL
1:3397065-3397065 G>A	0.0	3881	MELANOMA	-	-	-	-	ARHGEF16	uc001akg.4,p.D682N|uc001aki.3,p.D394N|NM_014448,p.D682N|ENST00000413250,p.D386N|ENST00000378378,p.D682N|ENST00000378373,p.D394N|uc001akj.3,p.D394N|uc010nzh.2,p.D386N|ENST00000378371,p.D394N	retained_intron, protein_coding	uc010nzh.2	nonsynonymous SNV	exon10	c.G1156A	p.D386N	RLRDGETGWFPEDFARFITSRVAVE	RLRDGETGWFPENFARFITSRVAVE	1.0	5.0	unscreened	-	3881_1:3397065-3397065 G>A_RLRDGETGWFPENFARFITSRVAVE
18:44392406-44392406 G>A	1.0	3881	MELANOMA	-	-	-	-	PIAS2	NM_004671,p.S619L|ENST00000585916,p.S619L|uc002lck.3,p.S619L|uc010dnp.3,p.S317L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dnp.3	nonsynonymous SNV	exon13	c.C950T	p.S317L	ITSSGSNIPDIISLD	ITSSGSNIPDIILLD	8.0	2.0	unscreened	-	3881_18:44392406-44392406 G>A_ITSSGSNIPDIILLD
7:82474694-82474694 C>T	0.0	3881	MELANOMA	-	-	-	-	PCLO	uc003uhv.2,p.G4647R|uc003uht.1,p.G98R|ENST00000333891,p.G4647R|uc003uhx.2,p.G4647R|NM_014510,p.G4647R|NM_033026,p.G4647R|uc003uhu.1,p.G77R|ENST00000423517,p.G4647R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon13	c.G13939A	p.G4647R	QSPLVLSSVVEKGSHVHSGPTSAGS	QSPLVLSSVVEKRSHVHSGPTSAGS	6.0	8.0	unscreened	-	3881_7:82474694-82474694 C>T_QSPLVLSSVVEKRSHVHSGPTSAGS
21:41719791-41719791 C>T	0.0	3881	MELANOMA	-	-	-	-	DSCAM	NM_001271534,p.G339E|uc002yyq.1,p.G339E|ENST00000400454,p.G339E|uc031rvr.1,p.G339E|ENST00000404019,p.G91E|NM_001389,p.G339E	protein_coding	uc031rvr.1	nonsynonymous SNV	exon6	c.G1016A	p.G339E	VGSQVSLSCSVTGTEDQELSWYRNG	VGSQVSLSCSVTETEDQELSWYRNG	1.0	1.0	unscreened	-	3881_21:41719791-41719791 C>T_VGSQVSLSCSVTETEDQELSWYRNG
3:38793750-38793750 G>A	0.0	3881	MELANOMA	-	-	-	-	SCN10A	NM_001293306,p.P572L|uc003ciq.3,p.P572L|ENST00000449082,p.P572L|NM_006514,p.P572L	protein_coding	uc003ciq.3	nonsynonymous SNV	exon11	c.C1715T	p.P572L	PDSRHGEDEHQPPPTSELAPGAVDV	PDSRHGEDEHQPLPTSELAPGAVDV	1.0	2.0	unscreened	-	3881_3:38793750-38793750 G>A_PDSRHGEDEHQPLPTSELAPGAVDV
10:129913293-129913293 G>A	0.0	3881	MELANOMA	-	-	-	-	MKI67	ENST00000368654,p.S460F|uc001lke.3,p.S460F|NM_002417,p.S460F	protein_coding, processed_transcript	uc001lke.3	nonsynonymous SNV	exon7	c.C1379T	p.S460F	WLTQVERKIQKDSLSKPEKLGTTAG	WLTQVERKIQKDFLSKPEKLGTTAG	7.0	10.0	unscreened	-	3881_10:129913293-129913293 G>A_WLTQVERKIQKDFLSKPEKLGTTAG
5:76645328-76645328 G>A	0.0	3881	MELANOMA	-	-	ID=COSM398292;OCCURENCE=1(lung)	-	PDE8B	NM_001029853,p.D301N|ENST00000503963,p.D83N|ENST00000333194,p.D321N|ENST00000264917,p.D321N|ENST00000342343,p.D301N|uc003kfc.3,p.D321N|NM_001029852,p.D321N|NM_003719,p.D321N|uc003kfb.3,p.D301N|uc003kfa.3,p.D321N	protein_coding	uc003kfc.3	nonsynonymous SNV	exon8	c.G961A	p.D321N	LLGKELADLPKSDKNRADLLDTINT	LLGKELADLPKSNKNRADLLDTINT	5.0	9.0	unscreened	-	3881_5:76645328-76645328 G>A_LLGKELADLPKSNKNRADLLDTINT
6:43230843-43230843 G>A	0.0	3881	MELANOMA	-	-	-	-	TTBK1	ENST00000259750,p.G581S|ENST00000304139,p.G530S|uc003ouq.1,p.G581S|NM_032538,p.G581S|uc011dvg.1,p.G104S	protein_coding	uc011dvg.1	nonsynonymous SNV	exon1	c.G310A	p.G104S	EEPEELRPLPEEGEERRRLGAEPTV	EEPEELRPLPEESEERRRLGAEPTV	1.0	10.0	unscreened	-	3881_6:43230843-43230843 G>A_EEPEELRPLPEESEERRRLGAEPTV
1:54060070-54060070 G>A	0.0	3881	MELANOMA	-	-	-	-	GLIS1	NM_147193,p.P169L|ENST00000312233,p.P169L|uc001cvr.1,p.P169L	protein_coding	uc001cvr.1	nonsynonymous SNV	exon3	c.C506T	p.P169L	FGPHQQGLPPPYPLSQLPPGPSLGG	FGPHQQGLPPPYLLSQLPPGPSLGG	1.0	4.0	unscreened	-	3881_1:54060070-54060070 G>A_FGPHQQGLPPPYLLSQLPPGPSLGG
21:41516589-41516589 C>T	0.0	3881	MELANOMA	-	-	-	-	DSCAM	NM_001389,p.G1030R|uc002yyq.1,p.G1030R|NM_001271534,p.G1030R|uc031rvr.1,p.G1030R|ENST00000404019,p.G782R|ENST00000400454,p.G1030R	protein_coding	uc031rvr.1	nonsynonymous SNV	exon17	c.G3088A	p.G1030R	RGYQIGYREYSTGGNFQFNIISVDT	RGYQIGYREYSTRGNFQFNIISVDT	1.0	6.0	unscreened	-	3881_21:41516589-41516589 C>T_RGYQIGYREYSTRGNFQFNIISVDT
17:46670701-46670701 G>A	1.0	3881	MELANOMA	-	-	-	-	HOXB5	ENST00000239151,p.S115L|uc002inr.3,p.S115L|NM_002147,p.S115L	protein_coding	uc002inr.3	nonsynonymous SNV	exon1	c.C344T	p.S115L	TNGDSHGAKPSASSPSDQATSASSS	TNGDSHGAKPSALSPSDQATSASSS	4.0	9.0	-	-	3881_17:46670701-46670701 G>A_TNGDSHGAKPSALSPSDQATSASSS
18:28734852-28734852 G>A	0.0	3881	MELANOMA	-	-	-	-	DSC1	ENST00000257197,p.S171F|ENST00000257198,p.S171F|NM_004948,p.S171F|uc002kwn.3,p.S171F|uc002kwm.3,p.S171F|NM_024421,p.S171F	protein_coding	uc002kwn.3	nonsynonymous SNV	exon5	c.C512T	p.S171F	QSDAAQNYTIFYSISGPGVDKEPFN	QSDAAQNYTIFYFISGPGVDKEPFN	1.0	3.0	unscreened	-	3881_18:28734852-28734852 G>A_QSDAAQNYTIFYFISGPGVDKEPFN
19:9072771-9072771 G>A	0.0	3881	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.S4892F|ENST00000397910,p.S4892F|NM_024690,p.S4892F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C14675T	p.S4892F	SKTTRTETETTSSLTPKLRETSISQ	SKTTRTETETTSFLTPKLRETSISQ	1.0	6.0	unscreened	-	3881_19:9072771-9072771 G>A_SKTTRTETETTSFLTPKLRETSISQ
16:23392031-23392031 C>T	0.0	3881	MELANOMA	-	-	-	-	SCNN1B	ENST00000568923,p.P584L|ENST00000307331,p.P656L|uc002dln.3,p.P611L|ENST00000568085,p.P575L|NM_000336,p.P611L|ENST00000343070,p.P611L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dln.3	nonsynonymous SNV	exon13	c.C1832T	p.P611L	PNTGPYPSEQALPIPGTPPPNYDSL	PNTGPYPSEQALLIPGTPPPNYDSL	3.0	7.0	unscreened	-	3881_16:23392031-23392031 C>T_PNTGPYPSEQALLIPGTPPPNYDSL
22:43926829-43926829 C>T	0.0	3881	MELANOMA	-	-	-	-	EFCAB6	NM_198856,p.E1265K|uc003bdz.2,p.E1265K|uc031rxz.1,p.E278K|uc003bdy.2,p.E1417K|ENST00000262726,p.E1417K|ENST00000396231,p.E1265K|NM_022785,p.E1417K|uc010gzi.2,p.E1265K	retained_intron, protein_coding, processed_transcript	uc031rxz.1	nonsynonymous SNV	exon6	c.G832A	p.E278K	IQNAHKMKEAGAETPSFYSALLRIQ	IQNAHKMKEAGAKTPSFYSALLRIQ	1.0	7.0	unscreened	-	3881_22:43926829-43926829 C>T_IQNAHKMKEAGAKTPSFYSALLRIQ
3:172499959-172499959 C>T	1.0	3881	MELANOMA	-	-	-	-	ECT2	uc003fii.3,p.L488F|uc003fik.2,p.L488F|NM_001258316,p.L488F|ENST00000417960,p.L487F|ENST00000441497,p.L488F|ENST00000427830,p.L488F|NM_001258315,p.L519F|NM_018098,p.L488F|uc003fij.2,p.L488F|ENST00000392692,p.L519F|uc003fil.2,p.L519F|uc003fih.3,p.L487F|ENST00000540509,p.L519F|ENST00000232458,p.L488F	retained_intron, protein_coding	uc003fil.2	nonsynonymous SNV	exon15	c.C1555T	p.L519F	DIFDVHTKIKDDLEDLIVNWDESKS	DIFDVHTKIKDDFEDLIVNWDESKS	8.0	1.0	unscreened	-	3881_3:172499959-172499959 C>T_DIFDVHTKIKDDFEDLIVNWDESKS
17:3030109-3030109 G>A	0.0	3881	MELANOMA	-	-	-	-	OR1G1	uc002fvc.1,p.S246F|NM_003555,p.S246F|ENST00000328890,p.S246F	protein_coding	uc002fvc.1	nonsynonymous SNV	exon1	c.C737T	p.S246F	KRKAFSTCSSHLSVVSLFFGTSFCV	KRKAFSTCSSHLFVVSLFFGTSFCV	1.0	7.0	unscreened	-	3881_17:3030109-3030109 G>A_KRKAFSTCSSHLFVVSLFFGTSFCV
X:135431143-135431143 C>T	0.0	3881	MELANOMA	-	-	-	-	GPR112	ENST00000287534,p.H1697Y|uc010nsc.1,p.H1527Y|uc004ezu.1,p.H1760Y|NM_153834,p.H1760Y|ENST00000412101,p.H1555Y|ENST00000394141,p.H1555Y|ENST00000394143,p.H1760Y|ENST00000370652,p.H1760Y|uc010nsb.1,p.H1555Y	protein_coding	uc010nsc.1	nonsynonymous SNV	exon1	c.C4579T	p.H1527Y	ENMLSPTHADSLHTSFNIQVSPSLT	ENMLSPTHADSLYTSFNIQVSPSLT	1.0	7.0	unscreened	-	3881_X:135431143-135431143 C>T_ENMLSPTHADSLYTSFNIQVSPSLT
6:7583892-7583892 G>A	0.0	3881	MELANOMA	-	-	-	-	DSP	NM_004415,p.G2133S|ENST00000379802,p.G2133S|uc021yle.1,p.G1690S|ENST00000418664,p.G1534S|uc003mxp.1,p.G2133S|NM_001008844,p.G1534S|uc003mxq.1,p.G1534S	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon24	c.G5068A	p.G1690S	GMRLLEAQIASGGVVDPVNSVFLPK	GMRLLEAQIASGSVVDPVNSVFLPK	3.0	8.0	unscreened	-	3881_6:7583892-7583892 G>A_GMRLLEAQIASGSVVDPVNSVFLPK
6:112671283-112671283 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1072304;OCCURENCE=1(endometrium)	-	RFPL4B	ENST00000441065,p.D125N|NM_001013734,p.D125N|uc003pvx.1,p.D125N|uc021zdy.1,p.D125N	protein_coding	uc021zdy.1	nonsynonymous SNV	exon1	c.G373A	p.D125N	DLRSAQCKKIHHDLTKDPRLACVLG	DLRSAQCKKIHHNLTKDPRLACVLG	1.0	10.0	unscreened	-	3881_6:112671283-112671283 G>A_DLRSAQCKKIHHNLTKDPRLACVLG
17:62018993-62018993 G>C	0.0	3881	MELANOMA	-	-	-	-	SCN4A	uc002jds.1,p.P1550R|ENST00000578147,p.P1550R|ENST00000435607,p.P1550R|NM_000334,p.P1550R	retained_intron, protein_coding	uc002jds.1	nonsynonymous SNV	exon24	c.C4649G	p.P1550R	WDGLLNPILNSGPPDCDPNLENPGT	WDGLLNPILNSGRPDCDPNLENPGT	4.0	10.0	unscreened	-	3881_17:62018993-62018993 G>C_WDGLLNPILNSGRPDCDPNLENPGT
5:140221831-140221831 G>A	0.0	3881	MELANOMA	-	-	-	-	PCDHA8	NM_018911,p.D309N|NM_031856,p.D309N|uc003lhs.2,p.D309N|uc003lhr.1,p.D309N|ENST00000531613,p.D309N|ENST00000378123,p.D309N	protein_coding	uc003lhs.2	nonsynonymous SNV	exon1	c.G925A	p.D309N	RNTGEIVIRGNLDFEQENLYKILID	RNTGEIVIRGNLNFEQENLYKILID	4.0	9.0	unscreened	-	3881_5:140221831-140221831 G>A_RNTGEIVIRGNLNFEQENLYKILID
10:30653976-30653976 C>T	0.0	3881	MELANOMA	-	-	-	-	GOLGA2P6	uc001ivb.4,p.R69Q|ENST00000358107,p.R69Q	protein_coding, processed_transcript	uc001ivb.4	nonsynonymous SNV	exon9	c.G206A	p.R69Q	TGRHHQKVNHNIRGPEGSAKDAAPG	TGRHHQKVNHNIQGPEGSAKDAAPG	7.0	10.0	unscreened	-	3881_10:30653976-30653976 C>T_TGRHHQKVNHNIQGPEGSAKDAAPG
6:49701510-49701510 G>A	0.0	3881	MELANOMA	-	-	-	-	CRISP3	ENST00000263045,p.S123L|ENST00000423399,p.S20L|NM_001190986,p.S133L|uc003ozs.3,p.S123L|uc021zai.1,p.S133L|ENST00000433368,p.S133L|ENST00000393666,p.S110L|ENST00000354620,p.S133L|ENST00000371159,p.S141L|NM_006061,p.S123L	protein_coding	uc021zai.1	nonsynonymous SNV	exon5	c.C398T	p.S133L	ENLYMSSASSSWSQAIQSWFDEYND	ENLYMSSASSSWLQAIQSWFDEYND	1.0	1.0	unscreened	-	3881_6:49701510-49701510 G>A_ENLYMSSASSSWLQAIQSWFDEYND
15:54707184-54707184 C>T	0.0	3881	MELANOMA	-	-	-	-	UNC13C	uc021sms.1,p.P1618S|ENST00000260323,p.P1618S|ENST00000537900,p.P1616S|uc002acl.3,p.P448S|NM_001080534,p.P1618S|ENST00000545554,p.P1618S	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon18	c.C4852T	p.P1618S	DKTAYTPVLNQFPQELNMGKISAEI	DKTAYTPVLNQFSQELNMGKISAEI	1.0	2.0	unscreened	-	3881_15:54707184-54707184 C>T_DKTAYTPVLNQFSQELNMGKISAEI
5:157053686-157053686 G>A	0.0	3881	MELANOMA	-	-	-	-	SOX30	ENST00000265007,p.P642S|uc011dds.1,p.P337S|uc003lxb.1,p.P642S|NM_178424,p.P642S|ENST00000519442,p.P337S	protein_coding	uc011dds.1	nonsynonymous SNV	exon6	c.C1009T	p.P337S	PYSRPPFGYGNFPSSMPECLSYYED	PYSRPPFGYGNFSSSMPECLSYYED	3.0	6.0	unscreened	-	3881_5:157053686-157053686 G>A_PYSRPPFGYGNFSSSMPECLSYYED
14:91804441-91804441 C>T	0.0	3881	MELANOMA	-	-	-	-	CCDC88C	NM_001080414,p.E320K|ENST00000389857,p.E320K|uc010aty.3,p.E320K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010aty.3	nonsynonymous SNV	exon10	c.G958A	p.E320K	ARAYRDELDSLREKANRVERLELEL	ARAYRDELDSLRKKANRVERLELEL	6.0	8.0	unscreened	-	3881_14:91804441-91804441 C>T_ARAYRDELDSLRKKANRVERLELEL
6:29012150-29012150 T>C	0.0	3881	MELANOMA	-	-	-	-	OR2W1	uc003nlw.2,p.K268R|ENST00000377175,p.K268R|NM_030903,p.K268R	protein_coding	uc003nlw.2	nonsynonymous SNV	exon1	c.A803G	p.K268R	IYMYLQPGNRASKDQGKFLTLFYTV	IYMYLQPGNRASRDQGKFLTLFYTV	1.0	1.0	unscreened	-	3881_6:29012150-29012150 T>C_IYMYLQPGNRASRDQGKFLTLFYTV
6:90605562-90605562 G>A	0.0	3881	MELANOMA	-	-	-	-	GJA10	ENST00000369352,p.D459N|uc011eaa.2,p.D459N|NM_032602,p.D459N	protein_coding	uc011eaa.2	nonsynonymous SNV	exon1	c.G1375A	p.D459N	SGSSGSRNSSCLDFPHWENSPSPLP	SGSSGSRNSSCLNFPHWENSPSPLP	1.0	10.0	unscreened	-	3881_6:90605562-90605562 G>A_SGSSGSRNSSCLNFPHWENSPSPLP
1:152573352-152573352 G>A	0.0	3881	MELANOMA	-	-	-	-	LCE3C	uc001fac.2,p.E49K|ENST00000333881,p.E49K|NM_178434,p.E49K	protein_coding	uc001fac.2	nonsynonymous SNV	exon1	c.G145A	p.E49K	CALSSGGCGPSSESGCCLSHHRHFR	CALSSGGCGPSSKSGCCLSHHRHFR	1.0	10.0	unscreened	-	3881_1:152573352-152573352 G>A_CALSSGGCGPSSKSGCCLSHHRHFR
X:64138953-64138953 G>A	1.0	3881	MELANOMA	-	-	-	-	ZC4H2	uc022byd.1,p.A154V|uc004dvu.3,p.A177V|NM_001243804,p.A154V|ENST00000545618,p.A172V|uc022byc.1,p.A154V|ENST00000374839,p.A177V|uc004dvv.3,p.A154V|NM_001178032,p.A154V|ENST00000337990,p.A154V|NM_018684,p.A177V|uc011mov.2,p.A154V	protein_coding, processed_transcript	uc022byd.1	nonsynonymous SNV	exon4	c.C461T	p.A154V	LQVARKQDTRQTATFRQQPPPMKAC	LQVARKQDTRQTVTFRQQPPPMKAC	3.0	3.0	unscreened	-	3881_X:64138953-64138953 G>A_LQVARKQDTRQTVTFRQQPPPMKAC
8:113484826-113484826 C>T	0.0	3881	MELANOMA	-	-	-	2	CSMD3	ENST00000352409,p.E1797K|ENST00000339701,p.E1137K|uc003yns.3,p.E1069K	retained_intron, protein_coding, processed_transcript	uc003yns.3	nonsynonymous SNV	exon19	c.G3205A	p.E1069K	GHNCVYSIAVPKEFAVPRTSSTQCS	GHNCVYSIAVPKKFAVPRTSSTQCS	1.0	6.0	unscreened	-	3881_8:113484826-113484826 C>T_GHNCVYSIAVPKKFAVPRTSSTQCS
2:38208426-38208426 G>A	0.0	3881	MELANOMA	-	-	-	-	RMDN2	ENST00000354545,p.G244E|ENST00000234195,p.G422E|uc002rqn.2,p.G422E|ENST00000407257,p.G422E|uc002rql.3,p.G244E|uc002rqm.3,p.G99E|ENST00000417700,p.G99E|NM_144713,p.G422E|NM_001170791,p.G244E|uc021vga.1,p.G244E|NM_001170793,p.G99E|ENST00000406384,p.G244E|NM_001170792,p.G244E|uc002rqk.1,p.G99E|ENST00000442857,p.G99E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vga.1	nonsynonymous SNV	exon5	c.G731A	p.G244E	TNTQEKKHYANIGKTLSERAINRAP	TNTQEKKHYANIEKTLSERAINRAP	5.0	5.0	unscreened	-	3881_2:38208426-38208426 G>A_TNTQEKKHYANIEKTLSERAINRAP
X:103294700-103294700 G>A	0.0	3881	MELANOMA	-	-	-	-	H2BFM	uc004els.2,p.G53R|ENST00000355016,p.G53R|NM_001164416,p.G53R|ENST00000243297,p.G156R	protein_coding	uc004els.2	nonsynonymous SNV	exon1	c.G157A	p.G53R	CRGSRRRHANRRGDSFGDSFTPYFP	CRGSRRRHANRRRDSFGDSFTPYFP	1.0	8.0	unscreened	-	3881_X:103294700-103294700 G>A_CRGSRRRHANRRRDSFGDSFTPYFP
10:61828514-61828514 G>A	0.0	3881	MELANOMA	-	-	-	-	ANK3	ENST00000280772,p.S4042F|uc001jky.3,p.S4042F|NM_020987,p.S4042F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.C12125T	p.S4042F	ESTSRNTSLSETSRGGQPSVTTKSA	ESTSRNTSLSETFRGGQPSVTTKSA	3.0	1.0	unscreened	-	3881_10:61828514-61828514 G>A_ESTSRNTSLSETFRGGQPSVTTKSA
1:158324356-158324356 G>A	0.0	3881	MELANOMA	-	-	-	-	CD1E	NM_001042585,p.G83E|NM_001042583,p.G83E|ENST00000368161,p.G83E|NM_001185107,p.G83E|uc001fsd.3,p.G83E|uc001fsj.3,p.G83E|NM_030893,p.G83E|ENST00000368165,p.G83E|ENST00000368160,p.G83E|NM_001185115,p.G83E|ENST00000368155,p.G83E|uc001fse.3,p.G83E|ENST00000434258,p.G81E|uc001fsf.3,p.G83E|uc001fsk.3,p.G83E|uc001frz.3,p.G83E|NM_001185108,p.G83E|ENST00000368163,p.G83E|uc010pid.2,p.G81E|NM_001042584,p.G83E|uc001fry.3,p.G83E|ENST00000368167,p.G83E|ENST00000368156,p.G83E	protein_coding, processed_transcript	uc010pid.2	nonsynonymous SNV	exon2	c.G242A	p.G81E	LGTIRFLKPWSHGNFSKQELKNLQS	LGTIRFLKPWSHENFSKQELKNLQS	5.0	10.0	unscreened	-	3881_1:158324356-158324356 G>A_LGTIRFLKPWSHENFSKQELKNLQS
16:19451833-19451833 C>T	0.0	3881	MELANOMA	-	-	-	-	TMC5	uc002dgc.4,p.S158F|NM_001105248,p.S158F|uc002dgb.4,p.S158F|ENST00000396229,p.S158F|NM_001105249,p.S158F|ENST00000541464,p.S158F|NM_001261841,p.S158F|ENST00000542583,p.S158F|uc010var.2,p.S158F|ENST00000381414,p.S158F|uc010vaq.2,p.S158F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010var.2	nonsynonymous SNV	exon3	c.C473T	p.S158F	YAGSRTHPDHFGSLEPDYPGAQSNS	YAGSRTHPDHFGFLEPDYPGAQSNS	1.0	8.0	unscreened	-	3881_16:19451833-19451833 C>T_YAGSRTHPDHFGFLEPDYPGAQSNS
11:68772897-68772897 G>A	0.0	3881	MELANOMA	-	-	-	-	MRGPRF	uc001oop.4,p.A294V|ENST00000441623,p.A294V|uc001ooo.4,p.A294V|NM_001098515,p.A294V|NM_145015,p.A294V|ENST00000309099,p.A294V	protein_coding	uc001oop.4	nonsynonymous SNV	exon3	c.C881T	p.A294V	INSSAKPIVYFLAGRDKSQRLWEPL	INSSAKPIVYFLVGRDKSQRLWEPL	1.0	10.0	unscreened	-	3881_11:68772897-68772897 G>A_INSSAKPIVYFLVGRDKSQRLWEPL
19:9070509-9070509 G>A	0.0	3881	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.S5646F|ENST00000397910,p.S5646F|NM_024690,p.S5646F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C16937T	p.S5646F	LMSPSMTSPSPVSSTSPESIPSSPL	LMSPSMTSPSPVFSTSPESIPSSPL	1.0	8.0	unscreened	-	3881_19:9070509-9070509 G>A_LMSPSMTSPSPVFSTSPESIPSSPL
6:41204294-41204294 C>T	0.0	3881	MELANOMA	-	-	-	-	TREML4	uc003oqc.3,p.L193F|NM_198153,p.L193F|ENST00000448827,p.L193F|ENST00000341495,p.L193F	protein_coding, nonsense_mediated_decay	uc003oqc.3	nonsynonymous SNV	exon5	c.C577T	p.L193F	GPRFLVLVLCGLLLAKGLML	GPRFLVLVLCGLFLAKGLML	1.0	2.0	unscreened	-	3881_6:41204294-41204294 C>T_GPRFLVLVLCGLFLAKGLML
19:9083430-9083430 C>T	0.0	3881	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.M2795I|NM_024690,p.M2795I|ENST00000397910,p.M2795I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G8385A	p.M2795I	ASVMPLTTGSQGMASSGGIRSGSTH	ASVMPLTTGSQGIASSGGIRSGSTH	1.0	9.0	unscreened	-	3881_19:9083430-9083430 C>T_ASVMPLTTGSQGIASSGGIRSGSTH
12:10766047-10766047 G>A	1.0	3881	MELANOMA	-	-	-	-	MAGOHB	ENST00000545236,p.R29W|ENST00000546173,p.R29W|ENST00000543929,p.R29W	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000546173	nonsynonymous SNV	exon1	c.C85T	p.R29W	GKFGHEFLEFEFRPDGRMKSTKQEG	GKFGHEFLEFEFWPDGRMKSTKQEG	8.0	1.0	unscreened	-	3881_12:10766047-10766047 G>A_GKFGHEFLEFEFWPDGRMKSTKQEG
5:33648958-33648958 C>T	0.0	3881	MELANOMA	-	-	-	-	ADAMTS12	ENST00000504830,p.G483E|ENST00000352040,p.G483E|NM_030955,p.G483E|uc003jia.1,p.G483E|uc010iuq.1,p.G483E	protein_coding, processed_transcript	uc010iuq.1	nonsynonymous SNV	exon9	c.G1448A	p.G483E	IYDVHHQCQLQYGPNATFCQEVENV	IYDVHHQCQLQYEPNATFCQEVENV	4.0	3.0	unscreened	-	3881_5:33648958-33648958 C>T_IYDVHHQCQLQYEPNATFCQEVENV
11:118529108-118529108 C>T	1.0	3881	MELANOMA	-	-	-	-	TREH	uc001pty.1,p.D548N	retained_intron, protein_coding	uc001pty.1	nonsynonymous SNV	exon15	c.G1642A	p.D548N	FGWTNGVVLMLLDRYGDRLTSGAKL	FGWTNGVVLMLLNRYGDRLTSGAKL	1.0	2.0	unscreened	-	3881_11:118529108-118529108 C>T_FGWTNGVVLMLLNRYGDRLTSGAKL
18:44543306-44543306 C>T	0.0	3881	MELANOMA	-	-	-	-	TCEB3CL,TCEB3CL2	NM_001100817,p.E356K	protein_coding	NM_001100817	nonsynonymous SNV	exon1	c.G1066A	p.E356K	VPRNNPDALGDVEGVPYSVLEPVLE	VPRNNPDALGDVKGVPYSVLEPVLE	1.0	1.0	unscreened	-	3881_18:44543306-44543306 C>T_VPRNNPDALGDVKGVPYSVLEPVLE
17:66989212-66989212 G>A	0.0	3881	MELANOMA	-	-	-	-	ABCA9	ENST00000340001,p.S1190F|NM_080283,p.S1190F|ENST00000453985,p.S1152F|ENST00000370732,p.S1190F|uc002jhu.3,p.S1190F|uc010dez.3,p.S1152F	retained_intron, protein_coding, processed_transcript	uc010dez.3	nonsynonymous SNV	exon25	c.C3455T	p.S1152F	GSLFIFSEISPDSMDYLGASESEIV	GSLFIFSEISPDFMDYLGASESEIV	3.0	5.0	unscreened	-	3881_17:66989212-66989212 G>A_GSLFIFSEISPDFMDYLGASESEIV
5:15937041-15937041 G>A	0.0	3881	MELANOMA	-	-	-	-	FBXL7	NM_012304,p.D408N|ENST00000510662,p.D361N|ENST00000329673,p.D396N|ENST00000504595,p.D408N|NM_001278317,p.D361N|uc003jfn.1,p.D408N	protein_coding	uc003jfn.1	nonsynonymous SNV	exon4	c.G1222A	p.D408N	YLAKNCTKLKSLDIGKCPLVSDTGL	YLAKNCTKLKSLNIGKCPLVSDTGL	4.0	1.0	unscreened	-	3881_5:15937041-15937041 G>A_YLAKNCTKLKSLNIGKCPLVSDTGL
5:174868958-174868958 G>A	0.0	3881	MELANOMA	-	-	-	-	DRD1	uc021yia.1,p.S382F|ENST00000393752,p.S382F|NM_000794,p.S382F|uc003mcz.3,p.S382F	protein_coding	uc021yia.1	nonsynonymous SNV	exon1	c.C1145T	p.S382F	MFSSHHEPRGSISKECNLVYLIPHA	MFSSHHEPRGSIFKECNLVYLIPHA	1.0	2.0	unscreened	-	3881_5:174868958-174868958 G>A_MFSSHHEPRGSIFKECNLVYLIPHA
1:156911758-156911758 G>T	1.0	3881	MELANOMA	-	-	-	-	ARHGEF11	uc010phu.2,p.A493D|NM_014784,p.A1077D|ENST00000315174,p.A493D|ENST00000368194,p.A1117D|ENST00000361409,p.A1077D|uc001fqo.3,p.A1077D|NM_198236,p.A1117D|uc001fqn.3,p.A1117D	protein_coding, processed_transcript	uc010phu.2	nonsynonymous SNV	exon13	c.C1478A	p.A493D	SDKNTWMELLEEAVRNATRHPGAAP	SDKNTWMELLEEDVRNATRHPGAAP	8.0	9.0	-	-	3881_1:156911758-156911758 G>T_SDKNTWMELLEEDVRNATRHPGAAP
5:178541172-178541172 C>T	0.0	3881	MELANOMA	-	-	ID=COSM138536;OCCURENCE=1(skin)	-	ADAMTS2	uc003mjw.3,p.G1111E|NM_014244,p.G1111E|ENST00000251582,p.G1111E	retained_intron, protein_coding	uc003mjw.3	nonsynonymous SNV	exon22	c.G3332A	p.G1111E	LTNVEGRIEPPPGKHNDIDVFMPTL	LTNVEGRIEPPPEKHNDIDVFMPTL	6.0	5.0	unscreened	-	3881_5:178541172-178541172 C>T_LTNVEGRIEPPPEKHNDIDVFMPTL
22:44681471-44681471 G>A	0.0	3881	MELANOMA	-	-	-	-	KIAA1644	uc003bet.2,p.P146S|NM_001099294,p.P146S|ENST00000381176,p.P146S	protein_coding	uc003bet.2	nonsynonymous SNV	exon4	c.C436T	p.P146S	RWGIQGRWMKQDPRRWGNPARAPRP	RWGIQGRWMKQDSRRWGNPARAPRP	2.0	1.0	unscreened	-	3881_22:44681471-44681471 G>A_RWGIQGRWMKQDSRRWGNPARAPRP
11:123893862-123893862 G>A	0.0	3881	MELANOMA	-	-	-	-	OR10G9	uc010sad.2,p.R48K|ENST00000375024,p.R48K|NM_001001953,p.R48K	protein_coding	uc010sad.2	nonsynonymous SNV	exon1	c.G143A	p.R48K	TVLGNLLILLVIRVDSHLHTPMYYF	TVLGNLLILLVIKVDSHLHTPMYYF	1.0	8.0	unscreened	-	3881_11:123893862-123893862 G>A_TVLGNLLILLVIKVDSHLHTPMYYF
17:77755908-77755908 C>T	0.0	3881	MELANOMA	-	-	-	-	CBX2	ENST00000269399,p.S199F|NM_032647,p.S199F|uc002jxb.2,p.S199F	retained_intron, protein_coding	uc002jxb.2	nonsynonymous SNV	exon4	c.C596T	p.S199F	NCCRQALFPPRGSLGDGKEQEACVQ	NCCRQALFPPRGFLGDGKEQEACVQ	5.0	4.0	unscreened	-	3881_17:77755908-77755908 C>T_NCCRQALFPPRGFLGDGKEQEACVQ
20:1629899-1629899 T>A	0.0	3881	MELANOMA	-	-	-	-	SIRPG	ENST00000216927,p.I77F|ENST00000344103,p.I77F|NM_001039508,p.I77F|uc002wfm.1,p.I77F|uc002wfo.1,p.I77F|NM_018556,p.I77F|ENST00000381583,p.I77F|uc002wfn.1,p.I77F|NM_080816,p.I77F|ENST00000381580,p.I44F|ENST00000303415,p.I77F	protein_coding, processed_transcript	uc002wfo.1	nonsynonymous SNV	exon2	c.A229T	p.I77F	LWFRGVGPGRELIYNQKEGHFPRVT	LWFRGVGPGRELFYNQKEGHFPRVT	4.0	2.0	unscreened	-	3881_20:1629899-1629899 T>A_LWFRGVGPGRELFYNQKEGHFPRVT
12:54915006-54915006 G>A	0.0	3881	MELANOMA	-	-	-	-	NCKAP1L	NM_005337,p.R621Q|uc010sox.2,p.R163Q|NM_001184976,p.R571Q|uc010soy.2,p.R571Q|ENST00000545638,p.R571Q|ENST00000293373,p.R621Q|uc001sgc.4,p.R621Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010soy.2	nonsynonymous SNV	exon18	c.G1712A	p.R571Q	TSNCVLEICAEQRNLSEQLLPKHCA	TSNCVLEICAEQQNLSEQLLPKHCA	7.0	9.0	unscreened	-	3881_12:54915006-54915006 G>A_TSNCVLEICAEQQNLSEQLLPKHCA
20:61542466-61542466 G>A	1.0	3881	MELANOMA	-	-	-	-	DIDO1	uc002ydr.2,p.R167C|NM_001193370,p.R167C|ENST00000266071,p.R167C|ENST00000266070,p.R167C|ENST00000395335,p.R167C|ENST00000354665,p.R167C|uc002ydu.2,p.R167C|uc002ydw.2,p.R167C|uc002ydv.2,p.R167C|ENST00000370366,p.R167C|NM_080796,p.R167C|uc002ydt.2,p.R167C|uc011aao.1,p.R167C|NM_033081,p.R167C|NM_080797,p.R167C|NM_022105,p.R167C|ENST00000370368,p.R167C|NM_001193369,p.R167C|uc002ydx.2,p.R167C|uc002yds.2,p.R167C|ENST00000395340,p.R167C|ENST00000395343,p.R167C|ENST00000370371,p.R167C	protein_coding	uc011aao.1	nonsynonymous SNV	exon2	c.C499T	p.R167C	DSDGLTLKELQNRLRRKREQEPTER	DSDGLTLKELQNCLRRKREQEPTER	9.0	6.0	unscreened	-	3881_20:61542466-61542466 G>A_DSDGLTLKELQNCLRRKREQEPTER
5:13871715-13871715 C>T	0.0	3881	MELANOMA	-	-	-	-	DNAH5	ENST00000265104,p.E1186K|NM_001369,p.E1186K|uc003jfd.2,p.E1186K	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon23	c.G3556A	p.E1186K	LYFQNLEQEINAEPEYVCVGSIALY	LYFQNLEQEINAKPEYVCVGSIALY	1.0	3.0	unscreened	-	3881_5:13871715-13871715 C>T_LYFQNLEQEINAKPEYVCVGSIALY
17:39092647-39092647 C>T	0.0	3881	MELANOMA	-	-	-	-	KRT23	uc002hvn.1,p.G70E|ENST00000209718,p.G70E|NM_015515,p.G70E|uc002hvm.1,p.G70E|uc010cxg.3,p.G70E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cxg.3	nonsynonymous SNV	exon1	c.G209A	p.G70E	SWGSGRSSPLLGGNGKATMQNLNDR	SWGSGRSSPLLGENGKATMQNLNDR	2.0	6.0	unscreened	-	3881_17:39092647-39092647 C>T_SWGSGRSSPLLGENGKATMQNLNDR
2:165476286-165476286 G>A	0.0	3881	MELANOMA	-	-	-	-	GRB14	uc002ucl.3,p.P79S|ENST00000424693,p.P21S|ENST00000263915,p.P79S|NM_004490,p.P79S|ENST00000446413,p.P34S	retained_intron, protein_coding, processed_transcript	uc002ucl.3	nonsynonymous SNV	exon2	c.C235T	p.P79S	KKDLDVPEMPSIPNPFPELCCSPFT	KKDLDVPEMPSISNPFPELCCSPFT	3.0	5.0	unscreened	-	3881_2:165476286-165476286 G>A_KKDLDVPEMPSISNPFPELCCSPFT
18:31311936-31311936 G>A	0.0	3881	MELANOMA	-	-	-	-	ASXL3	uc010dmg.1,p.G295E|ENST00000269197,p.G295E|NM_030632,p.G295E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon9	c.G884A	p.G295E	LLLLLPEVDRQMGSDGILRLSTSAL	LLLLLPEVDRQMESDGILRLSTSAL	1.0	5.0	unscreened	-	3881_18:31311936-31311936 G>A_LLLLLPEVDRQMESDGILRLSTSAL
3:38139015-38139015 G>A	0.0	3881	MELANOMA	-	-	-	-	DLEC1	uc003cho.1,p.D818N|ENST00000452631,p.D818N|ENST00000308059,p.D818N|NM_007337,p.D818N|NM_007335,p.D818N|ENST00000346219,p.D818N|uc003chp.1,p.D818N|uc010hgv.1,p.D818N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hgv.1	nonsynonymous SNV	exon17	c.G2452A	p.D818N	PGTGVIEPSEVGDFELNFTGGVPGP	PGTGVIEPSEVGNFELNFTGGVPGP	3.0	9.0	unscreened	-	3881_3:38139015-38139015 G>A_PGTGVIEPSEVGNFELNFTGGVPGP
10:50532550-50532550 C>T	0.0	3881	MELANOMA	-	-	-	-	C10orf71	uc021pqa.2,p.P654S|ENST00000374144,p.P654S|NM_001135196,p.P654S|ENST00000323868,p.P654S|uc021pqb.1,p.P654S	protein_coding, processed_transcript	uc021pqb.1	nonsynonymous SNV	exon1	c.C1960T	p.P654S	RKHLSLRLCNRDPEPGGATEKMKTH	RKHLSLRLCNRDSEPGGATEKMKTH	1.0	10.0	unscreened	-	3881_10:50532550-50532550 C>T_RKHLSLRLCNRDSEPGGATEKMKTH
X:101910909-101910909 G>A	0.0	3881	MELANOMA	-	-	-	-	GPRASP1	uc022cbc.1,p.G690R|NM_001099411,p.G690R|uc004eji.4,p.G690R|ENST00000361600,p.G690R|NM_001184727,p.G690R|ENST00000415986,p.G690R|NM_014710,p.G690R|uc010nod.3,p.G690R|NM_001099410,p.G690R|uc004ejj.4,p.G690R|ENST00000444152,p.G690R|ENST00000537097,p.G690R|uc022cbd.1,p.G690R	protein_coding, processed_transcript	uc022cbd.1	nonsynonymous SNV	exon1	c.G2068A	p.G690R	WAEKEPCMYPAGGGSWKSRPEEEED	WAEKEPCMYPAGRGSWKSRPEEEED	5.0	4.0	unscreened	-	3881_X:101910909-101910909 G>A_WAEKEPCMYPAGRGSWKSRPEEEED
10:50857597-50857597 G>A	0.0	3881	MELANOMA	-	-	-	-	CHAT	NM_020986,p.E358K|ENST00000455728,p.E358K|ENST00000337653,p.E476K|ENST00000395562,p.E394K|uc001jhz.2,p.E476K|ENST00000351556,p.E358K|uc001jhx.1,p.E358K|NM_020549,p.E476K|NM_001142929,p.E358K|uc010qgs.1,p.E358K|uc001jhy.1,p.E358K|ENST00000339797,p.E358K|NM_020984,p.E358K|ENST00000395559,p.E358K|uc001jhv.1,p.E358K|NM_001142933,p.E394K|NM_001142934,p.E358K|NM_020985,p.E358K	protein_coding, processed_transcript	uc010qgs.1	nonsynonymous SNV	exon10	c.G1072A	p.E358K	SSRKLIRADSVSELPAPRRLRWKCS	SSRKLIRADSVSKLPAPRRLRWKCS	1.0	8.0	unscreened	-	3881_10:50857597-50857597 G>A_SSRKLIRADSVSKLPAPRRLRWKCS
6:28294032-28294032 G>A	1.0	3881	MELANOMA	-	-	-	-	ZSCAN31	NM_001243244,p.P219S|uc003nlb.3,p.P219S|NM_001243242,p.P219S|ENST00000439158,p.P378S|NM_001243243,p.P219S|ENST00000344279,p.P378S|uc010jrb.3,p.P219S|uc021yrs.1,p.P378S|uc003nla.3,p.P378S|uc010jra.3,p.P378S|uc021yrt.1,p.P219S|ENST00000396838,p.P378S|uc003nld.3,p.P378S|ENST00000446474,p.P219S|uc003nlc.3,p.P378S|NM_030899,p.P378S|ENST00000414429,p.P378S|NM_001243241,p.P378S|NM_001135216,p.P378S	protein_coding, processed_transcript	uc021yrt.1	nonsynonymous SNV	exon4	c.C655T	p.P219S	LFQHLRVHTGEKPYQCSQCSKLFSK	LFQHLRVHTGEKSYQCSQCSKLFSK	6.0	9.0	-	-	3881_6:28294032-28294032 G>A_LFQHLRVHTGEKSYQCSQCSKLFSK
3:38743412-38743412 C>T	0.0	3881	MELANOMA	-	-	-	-	SCN10A	NM_001293306,p.M1524I|NM_006514,p.M1525I|uc003ciq.3,p.M1525I|NM_001293307,p.M1427I|ENST00000449082,p.M1525I	protein_coding	uc003ciq.3	nonsynonymous SNV	exon26	c.G4575A	p.M1525I	QFFVAVFTGECVMKMFALRQYYFTN	QFFVAVFTGECVIKMFALRQYYFTN	1.0	2.0	unscreened	-	3881_3:38743412-38743412 C>T_QFFVAVFTGECVIKMFALRQYYFTN
4:177143523-177143523 C>T	0.0	3881	MELANOMA	-	-	-	-	ASB5	ENST00000296525,p.E109K|ENST00000512254,p.E56K|uc003iuq.2,p.E109K|NM_080874,p.E109K|uc003iup.2,p.E56K	protein_coding, processed_transcript	uc003iuq.2	nonsynonymous SNV	exon3	c.G325A	p.E109K	NAVTLDHVTPLHEACLGDHVACART	NAVTLDHVTPLHKACLGDHVACART	1.0	9.0	unscreened	-	3881_4:177143523-177143523 C>T_NAVTLDHVTPLHKACLGDHVACART
15:50555448-50555448 C>T	0.0	3881	MELANOMA	-	-	-	-	HDC	ENST00000543581,p.R63Q|ENST00000559683,p.R57Q|uc001zxz.3,p.R63Q|NM_002112,p.R63Q|uc010uff.2,p.R63Q|ENST00000267845,p.R63Q|uc010beu.2,p.R63Q	retained_intron, protein_coding	uc010uff.2	nonsynonymous SNV	exon2	c.G188A	p.R63Q	PDSWDSIFGDIERIIMPGVVHWQSP	PDSWDSIFGDIEQIIMPGVVHWQSP	1.0	10.0	unscreened	-	3881_15:50555448-50555448 C>T_PDSWDSIFGDIEQIIMPGVVHWQSP
3:122642511-122642511 G>A	0.0	3881	MELANOMA	-	-	-	-	SEMA5B	ENST00000393583,p.P409S|uc003egb.2,p.P409S|uc010hro.2,p.P351S|ENST00000451055,p.P463S|ENST00000195173,p.P409S|uc011bju.2,p.P351S|uc031sbm.1,p.P463S|ENST00000357599,p.P409S|NM_001256348,p.P351S|NM_001256347,p.P463S|NM_001256346,p.P409S|uc003efz.2,p.P409S|NM_001031702,p.P409S|ENST00000475244,p.P409S	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sbm.1	nonsynonymous SNV	exon10	c.C1387T	p.P463S	QAFNGPFRYQENPRAAWLPIANPIP	QAFNGPFRYQENSRAAWLPIANPIP	3.0	9.0	unscreened	-	3881_3:122642511-122642511 G>A_QAFNGPFRYQENSRAAWLPIANPIP
4:126240174-126240174 G>A	0.0	3881	MELANOMA	-	-	-	1	FAT4	ENST00000394329,p.G870R|NM_001291285,p.G870R|uc003ifj.4,p.G870R|NM_024582,p.G870R|NM_001291303,p.G870R	retained_intron, protein_coding	uc003ifj.4	nonsynonymous SNV	exon1	c.G2608A	p.G870R	EQSFYQLKVVASGGTVTGDTMVNIT	EQSFYQLKVVASRGTVTGDTMVNIT	4.0	1.0	unscreened	-	3881_4:126240174-126240174 G>A_EQSFYQLKVVASRGTVTGDTMVNIT
X:71887242-71887242 C>T	0.0	3881	MELANOMA	-	-	-	-	PHKA1	uc004eax.4,p.E234K|ENST00000339490,p.E234K|NM_001122670,p.E234K|ENST00000373539,p.E234K|ENST00000373542,p.E234K|NM_001172436,p.E234K|ENST00000541944,p.E234K|ENST00000373545,p.E234K|uc011mqi.2,p.E234K|NM_002637,p.E234K|uc004eay.4,p.E234K	protein_coding	uc011mqi.2	nonsynonymous SNV	exon7	c.G700A	p.E234K	GGPQSVIHVLADEVQHCQSILNSLL	GGPQSVIHVLADKVQHCQSILNSLL	2.0	2.0	unscreened	-	3881_X:71887242-71887242 C>T_GGPQSVIHVLADKVQHCQSILNSLL
X:105280808-105280808 G>A	0.0	3881	MELANOMA	-	-	-	-	SERPINA7	ENST00000372563,p.S81F|uc010npe.2,p.S81F|NM_000354,p.S81F|uc010npd.3,p.S81F|ENST00000327674,p.S81F|uc004eme.2,p.S81F	protein_coding, processed_transcript	uc010npe.2	nonsynonymous SNV	exon2	c.C242T	p.S81F	SPVSISAALVMLSFGACCSTQTEIV	SPVSISAALVMLFFGACCSTQTEIV	1.0	9.0	unscreened	-	3881_X:105280808-105280808 G>A_SPVSISAALVMLFFGACCSTQTEIV
5:78328510-78328510 C>T	0.0	3881	MELANOMA	0.0005	-	-	-	DMGDH	ENST00000540686,p.R126K|uc011cte.1,p.R356K|uc011ctg.1,p.R126K|ENST00000255189,p.R506K|uc003kfs.3,p.R506K|NM_013391,p.R506K|uc011ctf.1,p.R305K|ENST00000380311,p.R305K|ENST00000523732,p.R345K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ctg.1	nonsynonymous SNV	exon4	c.G377A	p.R126K	HWFYKPGQDTQYRPSFRRTNWFEPV	HWFYKPGQDTQYKPSFRRTNWFEPV	4.0	3.0	unscreened	-	3881_5:78328510-78328510 C>T_HWFYKPGQDTQYKPSFRRTNWFEPV
3:151129265-151129265 C>T	0.0	3881	MELANOMA	0.0005	-	-	-	MED12L	ENST00000474524,p.P2002L|uc003eyp.3,p.P2002L|NM_053002,p.P2002L	protein_coding, processed_transcript	uc003eyp.3	nonsynonymous SNV	exon39	c.C6005T	p.P2002L	QQPSGYVQQQASPYLQPLTGSQRLN	QQPSGYVQQQASLYLQPLTGSQRLN	4.0	7.0	unscreened	-	3881_3:151129265-151129265 C>T_QQPSGYVQQQASLYLQPLTGSQRLN
X:154261690-154261690 G>A	0.0	3881	MELANOMA	-	-	-	-	FUNDC2	ENST00000369498,p.G49E|NM_023934,p.G49E|uc004fmw.3,p.G49E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004fmw.3	nonsynonymous SNV	exon2	c.G146A	p.G49E	TEMAASSQGNFEGNFESLDLAEFAK	TEMAASSQGNFEENFESLDLAEFAK	9.0	2.0	unscreened	-	3881_X:154261690-154261690 G>A_TEMAASSQGNFEENFESLDLAEFAK
10:96466659-96466659 C>T	0.0	3881	MELANOMA	-	-	-	-	CYP2C18	NM_000772,p.S254F|uc001kjv.4,p.S254F|ENST00000285979,p.S254F	protein_coding, processed_transcript	uc001kjv.4	nonsynonymous SNV	exon5	c.C761T	p.S254F	SYVLERIKEHQESLDMNSARDFIDC	SYVLERIKEHQEFLDMNSARDFIDC	1.0	1.0	unscreened	-	3881_10:96466659-96466659 C>T_SYVLERIKEHQEFLDMNSARDFIDC
6:127652041-127652041 G>A	1.0	3881	MELANOMA	-	-	ID=COSM1697881,COSM1697880;OCCURENCE=1(skin)	-	ECHDC1	ENST00000309620,p.P45S|ENST00000479525,p.P45S|ENST00000525745,p.P45S|ENST00000474289,p.P45S|ENST00000534442,p.P45S|uc003qaz.4,p.P45S|uc003qax.3,p.P51S|ENST00000531967,p.P51S|ENST00000430841,p.P45S|ENST00000368291,p.P45S|NM_018479,p.P45S|ENST00000526299,p.P45S|ENST00000368289,p.P45S|ENST00000531582,p.P45S|ENST00000368292,p.P45S|ENST00000368295,p.P45S|ENST00000454859,p.P45S|NM_001002030,p.P45S|uc003qay.4,p.P45S|NM_001139510,p.P51S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qaz.4	nonsynonymous SNV	exon2	c.C133T	p.P45S	YEEEVKKTLQQFPGGSIDLQKEDNG	YEEEVKKTLQQFSGGSIDLQKEDNG	1.0	10.0	-	-	3881_6:127652041-127652041 G>A_YEEEVKKTLQQFSGGSIDLQKEDNG
8:10466957-10466957 C>T	0.0	3881	MELANOMA	-	-	-	-	RP1L1	NM_178857,p.D1551N|ENST00000382483,p.D1551N|uc003wtc.3,p.D1551N	protein_coding, processed_transcript	uc003wtc.3	nonsynonymous SNV	exon4	c.G4651A	p.D1551N	AELRARWGLQDNDLLDQMAAELQQD	AELRARWGLQDNNLLDQMAAELQQD	1.0	4.0	unscreened	-	3881_8:10466957-10466957 C>T_AELRARWGLQDNNLLDQMAAELQQD
X:151821308-151821308 C>T	0.0	3881	MELANOMA	-	-	-	-	GABRQ	uc004ffp.1,p.A488V|ENST00000370306,p.A488V	protein_coding	uc004ffp.1	nonsynonymous SNV	exon9	c.C1463T	p.A488V	SIFPTEIRNRVEAHGHGVTHDHEDS	SIFPTEIRNRVEVHGHGVTHDHEDS	1.0	6.0	unscreened	-	3881_X:151821308-151821308 C>T_SIFPTEIRNRVEVHGHGVTHDHEDS
X:151821308-151821308 C>T	0.0	3881	MELANOMA	-	-	-	-	GABRQ	NM_018558,p.A488V	protein_coding	NM_018558	nonsynonymous SNV	exon9	c.C1463T	p.A488V	SIIPTEIRNRVEAHGHGVTHDHEDS	SIIPTEIRNRVEVHGHGVTHDHEDS	1.0	6.0	unscreened	-	3881_X:151821308-151821308 C>T_SIIPTEIRNRVEVHGHGVTHDHEDS
21:45706887-45706887 G>A	0.0	3881	MELANOMA	-	-	-	-	AIRE	uc002zei.3,p.G112R|ENST00000291582,p.G112R|NM_000383,p.G112R	retained_intron, protein_coding, nonsense_mediated_decay	uc002zei.3	nonsynonymous SNV	exon3	c.G334A	p.G112R	FPKDVDLSQPRKGRKPPAVPKALVP	FPKDVDLSQPRKRRKPPAVPKALVP	1.0	5.0	unscreened	-	3881_21:45706887-45706887 G>A_FPKDVDLSQPRKRRKPPAVPKALVP
16:50733539-50733539 G>A	0.0	3881	MELANOMA	-	-	-	-	NOD2	NM_001293557,p.E45K|ENST00000531674,p.E45K|ENST00000300589,p.E72K|NM_022162,p.E72K|uc010cbk.1,p.E45K|uc002egm.1,p.E72K|uc010cbj.1,p.E45K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010cbk.1	nonsynonymous SNV	exon2	c.G133A	p.E45K	LLSWEVLSWEDYEGFHLLGQPLSHL	LLSWEVLSWEDYKGFHLLGQPLSHL	6.0	5.0	unscreened	-	3881_16:50733539-50733539 G>A_LLSWEVLSWEDYKGFHLLGQPLSHL
12:117693831-117693831 G>A	0.0	3881	MELANOMA	-	-	-	-	NOS1	ENST00000338101,p.P848L|NM_001204218,p.P848L|uc001twn.2,p.P848L	protein_coding, processed_transcript	uc001twn.2	nonsynonymous SNV	exon17	c.C2543T	p.P848L	PNSVQEERKYPEPLRFFPRKGPPLP	PNSVQEERKYPELLRFFPRKGPPLP	1.0	4.0	unscreened	-	3881_12:117693831-117693831 G>A_PNSVQEERKYPELLRFFPRKGPPLP
1:212799715-212799715 C>T	0.0	3881	MELANOMA	-	-	-	-	FAM71A	uc001hjk.3,p.S499L|ENST00000294829,p.S499L|NM_153606,p.S499L	protein_coding	uc001hjk.3	nonsynonymous SNV	exon1	c.C1496T	p.S499L	RDSHKGVSHTPISKESRTSHKSGRS	RDSHKGVSHTPILKESRTSHKSGRS	1.0	10.0	unscreened	-	3881_1:212799715-212799715 C>T_RDSHKGVSHTPILKESRTSHKSGRS
9:109765662-109765662 G>T	1.0	3881	MELANOMA	-	-	-	-	ZNF462	uc011lvz.2,p.D339Y|ENST00000374686,p.D1325Y|ENST00000457913,p.D2442Y|ENST00000542028,p.D339Y|uc004bcz.3,p.D2382Y|ENST00000277225,p.D2382Y|ENST00000441147,p.D1288Y|uc010mto.3,p.D2291Y|uc004bda.3,p.D2290Y|NM_021224,p.D2382Y	protein_coding, processed_transcript	uc011lvz.2	nonsynonymous SNV	exon7	c.G1015T	p.D339Y	QMKEKMESSSSDDEDKEEEMNSKAE	QMKEKMESSSSDYEDKEEEMNSKAE	8.0	10.0	-	-	3881_9:109765662-109765662 G>T_QMKEKMESSSSDYEDKEEEMNSKAE
7:100683824-100683824 G>A	0.0	3881	MELANOMA	-	-	-	-	MUC17	ENST00000306151,p.E3043K|uc003uxp.1,p.E3043K|ENST00000379439,p.E3043K|NM_001040105,p.E3043K	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G9127A	p.E3043K	AEGTGIPISTPSEGSTPLTSIPVST	AEGTGIPISTPSKGSTPLTSIPVST	1.0	6.0	unscreened	-	3881_7:100683824-100683824 G>A_AEGTGIPISTPSKGSTPLTSIPVST
20:42199665-42199665 G>A	0.0	3881	MELANOMA	-	-	-	-	SGK2	NM_016276,p.D219N|ENST00000412111,p.D158N|ENST00000341458,p.D219N|ENST00000423407,p.D159N|uc002xkr.3,p.D159N|uc010ggm.3,p.D159N|ENST00000373100,p.D159N|ENST00000373077,p.D158N|NM_001199264,p.D159N|uc002xku.3,p.D159N|ENST00000496343,p.D159N|ENST00000373092,p.D159N|NM_170693,p.D159N|uc002xkv.3,p.D219N|ENST00000426287,p.D185N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ggm.3	nonsynonymous SNV	exon8	c.G475A	p.D159N	IGYLHSLNIIYRDLKPENILLDCQG	IGYLHSLNIIYRNLKPENILLDCQG	4.0	7.0	unscreened	-	3881_20:42199665-42199665 G>A_IGYLHSLNIIYRNLKPENILLDCQG
19:53612661-53612661 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF415	uc002qaw.3,p.E213K|NM_001164309,p.E213K|uc002qax.3,p.E261K|NM_001136038,p.E213K|uc010ydt.2,p.E213K|ENST00000243643,p.E213K|ENST00000500065,p.E213K|ENST00000448501,p.E261K|uc002qaz.3,p.E261K|uc010yds.2,p.E213K|uc002qay.3,p.E200K|ENST00000455735,p.E261K|ENST00000421033,p.E225K|NM_018355,p.E213K|ENST00000440291,p.E200K|uc002qav.3,p.E225K|uc002qau.3,p.E200K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ydt.2	nonsynonymous SNV	exon4	c.G637A	p.E213K	SLLTQEQKSCIREKPYRYIECDKAL	SLLTQEQKSCIRKKPYRYIECDKAL	8.0	7.0	unscreened	-	3881_19:53612661-53612661 C>T_SLLTQEQKSCIRKKPYRYIECDKAL
X:138643967-138643967 C>T	0.0	3881	MELANOMA	-	-	-	-	F9	uc004fas.1,p.P375S|ENST00000394090,p.P337S|uc004fat.1,p.P337S|ENST00000218099,p.P375S|NM_000133,p.P375S	protein_coding, processed_transcript	uc004fat.1	nonsynonymous SNV	exon7	c.C1009T	p.P337S	GRSALVLQYLRVPLVDRATCLRSTK	GRSALVLQYLRVSLVDRATCLRSTK	1.0	2.0	unscreened	-	3881_X:138643967-138643967 C>T_GRSALVLQYLRVSLVDRATCLRSTK
14:100331947-100331947 G>A	0.0	3881	MELANOMA	-	-	-	-	EML1	ENST00000554479,p.G103E|NM_004434,p.G116E|uc001ygs.3,p.G116E|ENST00000262233,p.G116E|uc010avt.1,p.G103E|ENST00000556714,p.G85E|ENST00000556835,p.G85E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010avt.1	nonsynonymous SNV	exon3	c.G308A	p.G103E	PKKPTGSLPSPSGVRKETAVPATKS	PKKPTGSLPSPSEVRKETAVPATKS	5.0	8.0	unscreened	-	3881_14:100331947-100331947 G>A_PKKPTGSLPSPSEVRKETAVPATKS
10:69921515-69921515 G>A	0.0	3881	MELANOMA	-	-	-	-	MYPN	uc001jnp.1,p.D497N|ENST00000373675,p.D497N	protein_coding	uc001jnp.1	nonsynonymous SNV	exon8	c.G1489A	p.D497N	QKKPRSMAEPGKDDFNFNLLVYE	QKKPRSMAEPGKNDFNFNLLVYE	3.0	10.0	unscreened	-	3881_10:69921515-69921515 G>A_QKKPRSMAEPGKNDFNFNLLVYE
7:30695556-30695556 T>G	0.0	3881	MELANOMA	-	-	-	-	CRHR2	uc010kvx.2,p.T301P|NM_001202482,p.T301P|uc010kvw.2,p.T302P|ENST00000506074,p.T302P|NM_001883,p.T302P|NM_001202481,p.T288P|ENST00000471646,p.T302P|ENST00000348438,p.T329P|ENST00000341843,p.T288P|NM_001202475,p.T329P|NM_001202483,p.T302P|uc003tbp.3,p.T329P|uc003tbn.3,p.T302P|uc010kvy.2,p.T138P|uc003tbo.3,p.T288P	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kvy.2	nonsynonymous SNV	exon8	c.A412C	p.T138P	LMTKLRASTTSETIQYRKAVKATLV	LMTKLRASTTSEPIQYRKAVKATLV	1.0	5.0	unscreened	-	3881_7:30695556-30695556 T>G_LMTKLRASTTSEPIQYRKAVKATLV
10:118202633-118202633 A>T	0.0	3881	MELANOMA	-	-	-	-	PNLIPRP3	NM_001011709,p.I91F|ENST00000369230,p.I91F|uc001lcl.4,p.I91F	protein_coding, processed_transcript	uc001lcl.4	nonsynonymous SNV	exon3	c.A271T	p.I91F	QASYFGTDKITRINIAGWKTDGKWQ	QASYFGTDKITRFNIAGWKTDGKWQ	1.0	1.0	unscreened	-	3881_10:118202633-118202633 A>T_QASYFGTDKITRFNIAGWKTDGKWQ
2:130833010-130833010 C>T	0.0	3881	MELANOMA	-	-	-	-	POTEF	uc010fmh.2,p.D679N|NM_001099771,p.D679N|ENST00000409914,p.D679N|ENST00000357462,p.D679N	protein_coding	uc010fmh.2	nonsynonymous SNV	exon17	c.G2035A	p.D679N	HQSQLREKKYLEDIESVKKRNDNLL	HQSQLREKKYLENIESVKKRNDNLL	1.0	6.0	unscreened	-	3881_2:130833010-130833010 C>T_HQSQLREKKYLENIESVKKRNDNLL
10:26492032-26492032 G>A	0.0	3881	MELANOMA	-	-	-	-	MYO3A	NM_017433,p.E1576K|ENST00000265944,p.E1576K|uc001isn.2,p.E1576K	protein_coding, processed_transcript	uc001isn.2	nonsynonymous SNV	exon34	c.G4726A	p.E1576K	QQELQNQCIKANERCWAAESPEKEE	QQELQNQCIKANKRCWAAESPEKEE	4.0	1.0	unscreened	-	3881_10:26492032-26492032 G>A_QQELQNQCIKANKRCWAAESPEKEE
10:50958913-50958913 C>T	0.0	3881	MELANOMA	-	-	-	-	OGDHL	NM_001143996,p.E233K|uc009xoh.2,p.E81K|uc010qgu.2,p.E81K|uc001jie.3,p.E290K|NM_018245,p.E290K|ENST00000419399,p.E233K|uc009xog.3,p.E317K|ENST00000432695,p.E81K|uc010qgt.2,p.E233K|NM_001143997,p.E81K|ENST00000374103,p.E290K	protein_coding, processed_transcript	uc010qgu.2	nonsynonymous SNV	exon5	c.G241A	p.E81K	KTIIDKSSEMGIENVILGMPHRGRL	KTIIDKSSEMGIKNVILGMPHRGRL	1.0	1.0	unscreened	-	3881_10:50958913-50958913 C>T_KTIIDKSSEMGIKNVILGMPHRGRL
6:32037618-32037618 C>T	0.0	3881	MELANOMA	-	-	ID=COSM741792,COSM1150381;OCCURENCE=1(lung)	-	TNXB	ENST00000375244,p.D1767N|uc003nzl.2,p.D1767N|ENST00000375247,p.D1767N|NM_019105,p.D1767N	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon15	c.G5299A	p.D1767N	ADGTTEARSAMDDTGTKRPPKPRLG	ADGTTEARSAMDNTGTKRPPKPRLG	5.0	1.0	unscreened	-	3881_6:32037618-32037618 C>T_ADGTTEARSAMDNTGTKRPPKPRLG
14:57268823-57268823 G>A	0.0	3881	MELANOMA	-	-	-	-	OTX2	NM_001270525,p.S175F|NM_001270523,p.S167F|uc031qor.1,p.S175F|ENST00000408990,p.S167F|NM_001270524,p.S167F|uc001xcq.4,p.S175F|ENST00000555006,p.S167F|uc031qos.1,p.S167F|NM_172337,p.S167F|ENST00000339475,p.S175F|NM_021728,p.S175F|uc001xcp.4,p.S167F|ENST00000554845,p.S175F|uc010aou.4,p.S167F	retained_intron, protein_coding	uc031qos.1	nonsynonymous SNV	exon5	c.C500T	p.S167F	ASISPLSDPLSTSSSCMQRSYPMTY	ASISPLSDPLSTFSSCMQRSYPMTY	1.0	5.0	unscreened	-	3881_14:57268823-57268823 G>A_ASISPLSDPLSTFSSCMQRSYPMTY
11:64821979-64821979 G>A	0.0	3881	MELANOMA	-	-	-	-	NAALADL1	ENST00000355721,p.P238S|NM_005468,p.P279S|uc001ocn.3,p.P279S|ENST00000340252,p.P279S|ENST00000356632,p.P279S|ENST00000339885,p.P279S|ENST00000358658,p.P279S|ENST00000355369,p.P279S	retained_intron, protein_coding, nonsense_mediated_decay	uc001ocn.3	nonsynonymous SNV	exon5	c.C835T	p.P279S	SFRVDLANVSGFPPIPTQPIGFQDA	SFRVDLANVSGFSPIPTQPIGFQDA	4.0	4.0	unscreened	-	3881_11:64821979-64821979 G>A_SFRVDLANVSGFSPIPTQPIGFQDA
1:20140946-20140946 C>T	0.0	3881	MELANOMA	-	-	-	-	RNF186	ENST00000375121,p.E217K|NM_019062,p.E217K|uc001bcr.3,p.E217K	protein_coding	uc001bcr.3	nonsynonymous SNV	exon1	c.G649A	p.E217K	SCWPSSRTLFCREQKHSHISSIA	SCWPSSRTLFCRKQKHSHISSIA	3.0	10.0	unscreened	-	3881_1:20140946-20140946 C>T_SCWPSSRTLFCRKQKHSHISSIA
11:120732729-120732729 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1704688;OCCURENCE=1(skin)	-	GRIK4	ENST00000527524,p.S269F|NM_001282473,p.S269F|uc009zax.1,p.S269F|NM_014619,p.S269F|ENST00000438375,p.S269F|uc009zav.1,p.S269F|uc009zaw.1,p.S269F|NM_001282470,p.S269F|uc001pxn.2,p.S269F	retained_intron, protein_coding, processed_transcript	uc009zax.1	nonsynonymous SNV	exon7	c.C806T	p.S269F	SLVDDRVNILGFSIFNQSHAFFQEF	SLVDDRVNILGFFIFNQSHAFFQEF	1.0	4.0	unscreened	-	3881_11:120732729-120732729 C>T_SLVDDRVNILGFFIFNQSHAFFQEF
9:118974146-118974146 G>A	0.0	3881	MELANOMA	-	-	-	-	PAPPA	NM_002581,p.G618E|ENST00000328252,p.G618E|uc004bjn.3,p.G618E	protein_coding, processed_transcript	uc004bjn.3	nonsynonymous SNV	exon4	c.G1853A	p.G618E	APKHKSCGDPGPGNDTCGFHSFFNT	APKHKSCGDPGPENDTCGFHSFFNT	1.0	10.0	unscreened	-	3881_9:118974146-118974146 G>A_APKHKSCGDPGPENDTCGFHSFFNT
1:233518132-233518132 G>A	0.0	3881	MELANOMA	-	-	-	-	KIAA1804	ENST00000366622,p.R375K|NM_032435,p.R929K|ENST00000366624,p.R929K|uc001hvu.4,p.R375K|uc001hvt.4,p.R929K	protein_coding	uc001hvu.4	nonsynonymous SNV	exon4	c.G1124A	p.R375K	LCPSPAPHSHLPREVSPKKHSTVHI	LCPSPAPHSHLPKEVSPKKHSTVHI	3.0	9.0	unscreened	-	3881_1:233518132-233518132 G>A_LCPSPAPHSHLPKEVSPKKHSTVHI
5:89989931-89989931 C>T	0.0	3881	MELANOMA	-	-	-	-	GPR98	uc003kju.3,p.S2453L|uc003kjv.3,p.S53L|NM_032119,p.S2453L|ENST00000405460,p.S2453L	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon1	c.C158T	p.S53L	TLCLKEQACSAFSFFSASEGPQCFW	TLCLKEQACSAFLFFSASEGPQCFW	4.0	5.0	unscreened	-	3881_5:89989931-89989931 C>T_TLCLKEQACSAFLFFSASEGPQCFW
1:158226049-158226049 G>A	0.0	3881	MELANOMA	0.0	-	-	-	CD1A	ENST00000289429,p.G194E|NM_001763,p.G194E|uc001frt.3,p.G194E	protein_coding	uc001frt.3	nonsynonymous SNV	exon3	c.G581A	p.G194E	TCPRFILGLLDAGKAHLQRQVKPEA	TCPRFILGLLDAEKAHLQRQVKPEA	1.0	10.0	unscreened	-	3881_1:158226049-158226049 G>A_TCPRFILGLLDAEKAHLQRQVKPEA
8:105436599-105436599 C>T	0.0	3881	MELANOMA	-	-	-	-	DPYS	ENST00000351513,p.E371K|NM_001385,p.E371K|uc003yly.4,p.E371K	retained_intron, protein_coding, processed_transcript	uc003yly.4	nonsynonymous SNV	exon7	c.G1111A	p.E371K	IWEKGVHSGKMDENRFVAVTSTNAA	IWEKGVHSGKMDKNRFVAVTSTNAA	2.0	9.0	unscreened	-	3881_8:105436599-105436599 C>T_IWEKGVHSGKMDKNRFVAVTSTNAA
15:45411362-45411362 G>A	0.0	3881	MELANOMA	-	-	-	-	DUOXA1	NM_144565,p.S325F|ENST00000559014,p.S325F|ENST00000430224,p.S280F|ENST00000267803,p.S325F|uc001zup.4,p.S325F|NM_001276264,p.S325F|uc010uem.3,p.S280F|uc010bec.4,p.S325F|NM_001276265,p.S280F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010uem.3	nonsynonymous SNV	exon5	c.C839T	p.S280F	SPKSQDIPLSEASSTKAYYRPRRLS	SPKSQDIPLSEAFSTKAYYRPRRLS	1.0	8.0	unscreened	-	3881_15:45411362-45411362 G>A_SPKSQDIPLSEAFSTKAYYRPRRLS
1:47279930-47279930 G>A	0.0	3881	MELANOMA	-	-	-	-	CYP4B1	ENST00000464439,p.G251E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000464439	nonsynonymous SNV	exon7	c.G752A	p.G251E	GSGRQPCRMRRCGRRSRTGGTWTSW	GSGRQPCRMRRCERRSRTGGTWTSW	1.0	6.0	unscreened	-	3881_1:47279930-47279930 G>A_GSGRQPCRMRRCERRSRTGGTWTSW
14:77302610-77302610 T>A	0.0	3881	MELANOMA	-	-	-	-	LRRC74A	NM_194287,p.L151M|uc001xsx.2,p.L151M|ENST00000450042,p.L134M|ENST00000393774,p.L151M|ENST00000216450,p.L151M	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xsx.2	nonsynonymous SNV	exon4	c.T451A	p.L151M	ELEDNCIMEEGVLSLVEMLQENYYL	ELEDNCIMEEGVMSLVEMLQENYYL	1.0	5.0	unscreened	-	3881_14:77302610-77302610 T>A_ELEDNCIMEEGVMSLVEMLQENYYL
16:7657328-7657328 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1379934,COSM1379935,COSM1379936;OCCURENCE=1(large_intestine)	-	RBFOX1	ENST00000553186,p.E222K|uc010uyc.1,p.E242K|NM_001142333,p.E222K|uc002cyt.2,p.E222K	retained_intron, protein_coding, processed_transcript	uc010uyc.1	nonsynonymous SNV	exon7	c.G724A	p.E242K	KLNPVVGAVYSPEFYAVPGFPYPAA	KLNPVVGAVYSPKFYAVPGFPYPAA	1.0	5.0	unscreened	-	3881_16:7657328-7657328 G>A_KLNPVVGAVYSPKFYAVPGFPYPAA
12:4848348-4848348 C>T	0.0	3881	MELANOMA	-	-	-	-	GALNT8	uc001qne.1,p.P177S|NM_017417,p.P177S|ENST00000252318,p.P177S	protein_coding, processed_transcript	uc001qne.1	nonsynonymous SNV	exon3	c.C529T	p.P177S	DTRDYRCLRKTYPSQLPSLSVILIF	DTRDYRCLRKTYSSQLPSLSVILIF	2.0	5.0	unscreened	-	3881_12:4848348-4848348 C>T_DTRDYRCLRKTYSSQLPSLSVILIF
17:48273979-48273979 T>C	0.0	3881	MELANOMA	-	-	-	1	COL1A1	ENST00000225964,p.K286R|NM_000088,p.K286R|uc002iqm.3,p.K286R	retained_intron, protein_coding	uc002iqm.3	nonsynonymous SNV	exon12	c.A857G	p.K286R	DGAKGDAGPAGPKGEPGSPGENGAP	DGAKGDAGPAGPRGEPGSPGENGAP	10.0	7.0	unscreened	-	3881_17:48273979-48273979 T>C_DGAKGDAGPAGPRGEPGSPGENGAP
2:182468746-182468746 G>A	0.0	3881	MELANOMA	-	-	-	-	CERKL	NM_001030312,p.S100F|ENST00000409440,p.S100F|NM_201548,p.S100F|NM_001030313,p.S100F|ENST00000339098,p.S100F|uc002uoc.3,p.S100F|ENST00000421817,p.S100F|uc002uoa.3,p.S100F|ENST00000374969,p.S100F|ENST00000374970,p.S100F|uc002uoe.3,p.S100F|uc010zfm.2,p.S100F|NM_001030311,p.S100F|NM_001160277,p.S100F|ENST00000452174,p.S100F|ENST00000374967,p.S100F|uc002unx.3,p.S100F|uc002uny.3,p.S100F|ENST00000410087,p.S100F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zfm.2	nonsynonymous SNV	exon2	c.C299T	p.S100F	CKEEFIELKDIFSVKLKRRCSVKQQ	CKEEFIELKDIFFVKLKRRCSVKQQ	2.0	4.0	unscreened	-	3881_2:182468746-182468746 G>A_CKEEFIELKDIFFVKLKRRCSVKQQ
8:105160846-105160846 C>T	0.0	3881	MELANOMA	-	-	-	-	RIMS2	uc003yls.3,p.S1053F|ENST00000436393,p.S1053F	retained_intron, protein_coding, processed_transcript	uc003yls.3	nonsynonymous SNV	exon23	c.C3158T	p.S1053F	RRFSQDDTSVFTSKMQSRQMGISGK	RRFSQDDTSVFTFKMQSRQMGISGK	3.0	7.0	unscreened	-	3881_8:105160846-105160846 C>T_RRFSQDDTSVFTFKMQSRQMGISGK
X:134978453-134978453 C>T	0.0	3881	MELANOMA	-	-	-	-	SAGE1	NM_018666,p.H18Y|ENST00000324447,p.H18Y|uc010nry.1,p.H18Y|uc004ezh.3,p.H18Y|ENST00000537770,p.H18Y|ENST00000370709,p.H18Y|uc011mvv.2,p.H18Y|ENST00000535938,p.H18Y	protein_coding	uc011mvv.2	nonsynonymous SNV	exon2	c.C52T	p.H18Y	LQTSQPTPPEELHAAAYVFTNDGQQ	LQTSQPTPPEELYAAAYVFTNDGQQ	1.0	8.0	unscreened	-	3881_X:134978453-134978453 C>T_LQTSQPTPPEELYAAAYVFTNDGQQ
3:36587701-36587701 G>A	1.0	3881	MELANOMA	-	-	-	-	STAC	NM_001292049,p.E316K|uc003cgh.1,p.E377K|uc011aya.1,p.E316K|ENST00000457375,p.E316K|ENST00000273183,p.E377K|NM_003149,p.E377K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aya.1	nonsynonymous SNV	exon9	c.G946A	p.E316K	TLKENQICVSSEEEQDGFIRVLSGK	TLKENQICVSSEKEQDGFIRVLSGK	7.0	1.0	unscreened	-	3881_3:36587701-36587701 G>A_TLKENQICVSSEKEQDGFIRVLSGK
12:51736375-51736375 C>T	0.0	3881	MELANOMA	-	-	ID=COSM431290;OCCURENCE=1(breast)	-	CELA1	ENST00000293636,p.D104N|NM_001971,p.D104N|uc001ryi.1,p.D104N	protein_coding	uc001ryi.1	nonsynonymous SNV	exon4	c.G310A	p.D104N	VQKIVVHPYWNSDNVAAGYDIALLR	VQKIVVHPYWNSNNVAAGYDIALLR	1.0	5.0	unscreened	-	3881_12:51736375-51736375 C>T_VQKIVVHPYWNSNNVAAGYDIALLR
15:54792311-54792311 G>A	0.0	3881	MELANOMA	-	-	-	-	UNC13C	ENST00000537900,p.E1697K|ENST00000260323,p.E1699K|uc021sms.1,p.E1699K|NM_001080534,p.E1699K|ENST00000545554,p.E1699K	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon20	c.G5095A	p.E1699K	LWFEPFVMQWLDENEDVSMEFLHGA	LWFEPFVMQWLDKNEDVSMEFLHGA	1.0	9.0	unscreened	-	3881_15:54792311-54792311 G>A_LWFEPFVMQWLDKNEDVSMEFLHGA
15:83932880-83932880 G>A	0.0	3881	MELANOMA	-	-	-	-	BNC1	uc002bjt.1,p.H375Y|ENST00000569704,p.H368Y|NM_001717,p.H375Y|ENST00000345382,p.H375Y|uc010uos.1,p.H363Y|NM_001301206,p.H368Y	protein_coding	uc010uos.1	nonsynonymous SNV	exon4	c.C1087T	p.H363Y	EKTFYDKGTLKIHYNAVHLKIKHKC	EKTFYDKGTLKIYYNAVHLKIKHKC	1.0	2.0	unscreened	-	3881_15:83932880-83932880 G>A_EKTFYDKGTLKIYYNAVHLKIKHKC
17:7909925-7909925 G>A	0.0	3881	MELANOMA	-	-	-	-	GUCY2D	NM_000180,p.R424Q|uc002gjt.2,p.R424Q|ENST00000254854,p.R424Q	retained_intron, protein_coding	uc002gjt.2	nonsynonymous SNV	exon4	c.G1271A	p.R424Q	DRLFATYMLDPARGSFLSAGTRMHF	DRLFATYMLDPAQGSFLSAGTRMHF	1.0	8.0	unscreened	-	3881_17:7909925-7909925 G>A_DRLFATYMLDPAQGSFLSAGTRMHF
1:9083116-9083116 C>T	0.0	3881	MELANOMA	-	-	ID=COSM133916;OCCURENCE=1(skin),1(large_intestine)	-	SLC2A7	uc009vmo.1,p.E58K|NM_207420,p.E58K|ENST00000400906,p.E58K	protein_coding	uc009vmo.1	nonsynonymous SNV	exon3	c.G172A	p.E58K	NTPHKVFKSFYNETYFERHATFMDG	NTPHKVFKSFYNKTYFERHATFMDG	1.0	7.0	unscreened	-	3881_1:9083116-9083116 C>T_NTPHKVFKSFYNKTYFERHATFMDG
12:14792867-14792867 C>T	0.0	3881	MELANOMA	-	-	-	-	GUCY2C	ENST00000261170,p.E696K|NM_004963,p.E696K|uc001rcd.3,p.E696K	retained_intron, protein_coding	uc001rcd.3	nonsynonymous SNV	exon19	c.G2086A	p.E696K	SCRDRNEKIFRVENSNGMKPFRPDL	SCRDRNEKIFRVKNSNGMKPFRPDL	1.0	3.0	unscreened	-	3881_12:14792867-14792867 C>T_SCRDRNEKIFRVKNSNGMKPFRPDL
16:4253245-4253245 G>A	0.0	3881	MELANOMA	-	-	-	-	SRL	uc002cvz.4,p.R61W|ENST00000537996,p.R19W|ENST00000399609,p.R61W|NM_001098814,p.R61W	protein_coding, nonsense_mediated_decay	uc002cvz.4	nonsynonymous SNV	exon3	c.C181T	p.R61W	PSDDYSAVLQRLRKIYHSSIKPLEQ	PSDDYSAVLQRLWKIYHSSIKPLEQ	1.0	5.0	unscreened	-	3881_16:4253245-4253245 G>A_PSDDYSAVLQRLWKIYHSSIKPLEQ
9:114090206-114090206 C>T	0.0	3881	MELANOMA	-	-	-	-	OR2K2	ENST00000374428,p.G199R|ENST00000302681,p.G170R|uc011lwp.2,p.G170R|NM_205859,p.G170R	protein_coding	uc011lwp.2	nonsynonymous SNV	exon1	c.G508A	p.G170R	LETSFALQIPLCGNLIDHFTCEILA	LETSFALQIPLCRNLIDHFTCEILA	1.0	10.0	unscreened	-	3881_9:114090206-114090206 C>T_LETSFALQIPLCRNLIDHFTCEILA
14:100331947-100331947 G>A	0.0	3881	MELANOMA	-	-	-	-	EML1	ENST00000334192,p.G116E|uc001ygq.3,p.G116E|NM_001008707,p.G116E|uc001ygr.3,p.G116E|uc010tww.2,p.G85E|ENST00000327921,p.G85E|ENST00000555145,p.G103E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tww.2	nonsynonymous SNV	exon3	c.G254A	p.G85E	PKKPTGSLPSPSGVRKETAVPATKR	PKKPTGSLPSPSEVRKETAVPATKR	5.0	8.0	unscreened	-	3881_14:100331947-100331947 G>A_PKKPTGSLPSPSEVRKETAVPATKR
16:28943798-28943798 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1377208;OCCURENCE=1(large_intestine)	-	CD19	uc010byo.2,p.H74Y|NM_001178098,p.H74Y|ENST00000324662,p.H74Y|uc002drs.3,p.H74Y|ENST00000538922,p.H74Y|NM_001770,p.H74Y|ENST00000567541,p.H74Y	retained_intron, protein_coding	uc010byo.2	nonsynonymous SNV	exon2	c.C220T	p.H74Y	LKLSLGLPGLGIHMRPLAIWLFIFN	LKLSLGLPGLGIYMRPLAIWLFIFN	3.0	3.0	unscreened	-	3881_16:28943798-28943798 C>T_LKLSLGLPGLGIYMRPLAIWLFIFN
1:24435036-24435036 C>T	0.0	3881	MELANOMA	-	-	-	-	MYOM3	uc001bio.3,p.E31K|ENST00000374434,p.E31K|ENST00000330966,p.E31K|ENST00000329601,p.E31K|NM_152372,p.E31K|uc001bin.4,p.E31K	protein_coding, processed_transcript	uc001bio.3	nonsynonymous SNV	exon2	c.G91A	p.E31K	MEVHRLEHRQEEEQKEERQHSLRMG	MEVHRLEHRQEEKQKEERQHSLRMG	1.0	9.0	unscreened	-	3881_1:24435036-24435036 C>T_MEVHRLEHRQEEKQKEERQHSLRMG
1:9017279-9017279 G>A	1.0	3881	MELANOMA	-	-	-	-	CA6	uc031plc.1,p.G115R|uc001apm.4,p.G115R|NM_001215,p.G115R|ENST00000377443,p.G115R|uc009vmn.4,p.G55R|NM_001270500,p.G115R|ENST00000549778,p.G83R|NM_001270501,p.G55R|ENST00000377442,p.G55R|ENST00000377436,p.G115R	protein_coding, processed_transcript, nonsense_mediated_decay	uc031plc.1	nonsynonymous SNV	exon3	c.G343A	p.G115R	TVYIAQQMHFHWGGASSEISGSEHT	TVYIAQQMHFHWRGASSEISGSEHT	5.0	6.0	unscreened	-	3881_1:9017279-9017279 G>A_TVYIAQQMHFHWRGASSEISGSEHT
19:9049913-9049913 G>A	0.0	3881	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.S10573F|ENST00000397910,p.S10573F|NM_024690,p.S10573F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon5	c.C31718T	p.S10573F	FNRESETTASLVSRSGAERSPVIQT	FNRESETTASLVFRSGAERSPVIQT	1.0	7.0	unscreened	-	3881_19:9049913-9049913 G>A_FNRESETTASLVFRSGAERSPVIQT
22:50987532-50987532 C>T	0.0	3881	MELANOMA	-	-	-	-	KLHDC7B	ENST00000395676,p.P313S|NM_138433,p.P313S|uc003bmi.3,p.P313S	protein_coding	uc003bmi.3	nonsynonymous SNV	exon1	c.C937T	p.P313S	RGPRGEEPPAAAPVSLPLPAHLHVF	RGPRGEEPPAAASVSLPLPAHLHVF	3.0	8.0	unscreened	-	3881_22:50987532-50987532 C>T_RGPRGEEPPAAASVSLPLPAHLHVF
19:51649323-51649323 C>G	0.0	3881	MELANOMA	-	-	-	-	SIGLEC7	ENST00000317643,p.N324K|NM_016543,p.N231K|uc002pvv.1,p.N324K|ENST00000305628,p.N231K|uc002pvw.1,p.N231K|NM_014385,p.N324K	retained_intron, protein_coding, nonsense_mediated_decay	uc002pvw.1	nonsynonymous SNV	exon3	c.C693G	p.N231K	LGDEGEFTCRAQNSLGSQHVSLNLS	LGDEGEFTCRAQKSLGSQHVSLNLS	5.0	4.0	unscreened	-	3881_19:51649323-51649323 C>G_LGDEGEFTCRAQKSLGSQHVSLNLS
12:75444658-75444658 C>T	0.0	3881	MELANOMA	-	-	-	-	KCNC2	NM_001260497,p.R376Q|ENST00000540018,p.R376Q|ENST00000393288,p.R376Q|ENST00000548513,p.R376Q|ENST00000350228,p.R376Q|ENST00000550433,p.R376Q|NM_139136,p.R376Q|NM_001260498,p.R376Q|NM_139137,p.R376Q|uc001sxf.4,p.R376Q|uc001sxg.2,p.R376Q|uc001sxe.4,p.R376Q|NM_153748,p.R376Q|ENST00000341669,p.R376Q|uc009zry.4,p.R376Q|uc031qif.1,p.R376Q|NM_001260499,p.R376Q|ENST00000298972,p.R376Q|uc010stw.2,p.R376Q|ENST00000549446,p.R376Q	protein_coding, processed_transcript	uc031qif.1	nonsynonymous SNV	exon3	c.G1127A	p.R376Q	HFVGLRVLGHTLRASTNEFLLLIIF	HFVGLRVLGHTLQASTNEFLLLIIF	1.0	9.0	unscreened	-	3881_12:75444658-75444658 C>T_HFVGLRVLGHTLQASTNEFLLLIIF
20:9496903-9496903 G>A	0.0	3881	MELANOMA	-	-	-	-	LAMP5	ENST00000427562,p.E80K|NM_001199897,p.E80K|uc010zrc.2,p.E80K	protein_coding	uc010zrc.2	nonsynonymous SNV	exon3	c.G238A	p.E80K	VPYDVWASNYVDESHNMSKGPEATW	VPYDVWASNYVDKSHNMSKGPEATW	3.0	1.0	unscreened	-	3881_20:9496903-9496903 G>A_VPYDVWASNYVDKSHNMSKGPEATW
17:72349075-72349075 C>T	0.0	3881	MELANOMA	-	-	-	-	KIF19	ENST00000389916,p.P699L|NM_153209,p.P699L|uc002jkm.4,p.P699L	retained_intron, protein_coding	uc002jkm.4	nonsynonymous SNV	exon15	c.C2096T	p.P699L	SSDAQHLQNSALPPLSTESEGHHVF	SSDAQHLQNSALLPLSTESEGHHVF	2.0	8.0	unscreened	-	3881_17:72349075-72349075 C>T_SSDAQHLQNSALLPLSTESEGHHVF
17:10359830-10359830 G>A	0.0	3881	MELANOMA	-	-	-	-	MYH4	ENST00000255381,p.S647F|NM_017533,p.S647F|uc002gmn.3,p.S647F	protein_coding	uc002gmn.3	nonsynonymous SNV	exon17	c.C1940T	p.S647F	GGGKKGGKKKGSSFQTVSALFRENL	GGGKKGGKKKGSFFQTVSALFRENL	1.0	6.0	unscreened	-	3881_17:10359830-10359830 G>A_GGGKKGGKKKGSFFQTVSALFRENL
1:62740658-62740658 G>A	0.0	3881	MELANOMA	-	-	-	-	KANK4	NM_181712,p.L40F|ENST00000371153,p.L40F|uc001dah.4,p.L40F	protein_coding	uc001dah.4	nonsynonymous SNV	exon3	c.C118T	p.L40F	ETPYGFHLDLDFLKYVDDIEKGNTI	ETPYGFHLDLDFFKYVDDIEKGNTI	2.0	8.0	unscreened	-	3881_1:62740658-62740658 G>A_ETPYGFHLDLDFFKYVDDIEKGNTI
14:68249851-68249851 G>A	1.0	3881	MELANOMA	-	-	-	-	ZFYVE26	ENST00000555452,p.R1340C|uc001xka.2,p.R1340C|uc001xkc.4,p.R1340C|ENST00000347230,p.R1340C|NM_015346,p.R1340C	retained_intron, protein_coding, nonsense_mediated_decay	uc001xkc.4	nonsynonymous SNV	exon21	c.C4018T	p.R1340C	KVSKPSLSWKELRGRREVPLAAEQV	KVSKPSLSWKELCGRREVPLAAEQV	8.0	6.0	unscreened	-	3881_14:68249851-68249851 G>A_KVSKPSLSWKELCGRREVPLAAEQV
10:98741296-98741296 C>T	1.0	3881	MELANOMA	-	-	-	-	C10orf12	uc001kmv.3,p.S50L|NM_015652,p.S50L|ENST00000286067,p.S50L|uc009xvg.2,p.S360L	protein_coding	uc009xvg.2	nonsynonymous SNV	exon8	c.C1079T	p.S360L	SEEAWNSGFMGNSSRTADKENTLQC	SEEAWNSGFMGNLSRTADKENTLQC	5.0	3.0	unscreened	-	3881_10:98741296-98741296 C>T_SEEAWNSGFMGNLSRTADKENTLQC
1:200089939-200089939 G>A	0.0	3881	MELANOMA	-	-	-	-	NR5A2	NM_003822,p.D366N|NM_205860,p.D412N|uc010pph.3,p.D340N|NM_001276464,p.D340N|ENST00000367362,p.D412N|ENST00000236914,p.D366N|uc001gvc.4,p.D366N|uc009wzh.3,p.D372N|uc001gvb.4,p.D412N|ENST00000544748,p.D340N	protein_coding, nonsense_mediated_decay	uc010pph.3	nonsynonymous SNV	exon6	c.G1018A	p.D340N	EGSIFLVTGQQVDYSIIASQAGATL	EGSIFLVTGQQVNYSIIASQAGATL	3.0	8.0	unscreened	-	3881_1:200089939-200089939 G>A_EGSIFLVTGQQVNYSIIASQAGATL
11:20805233-20805233 A>C	0.0	3881	MELANOMA	-	-	-	-	NELL1	ENST00000325319,p.E64D|uc010rdo.2,p.E64D|uc001mqe.3,p.E64D|uc001mqf.3,p.E64D|ENST00000532434,p.E64D|NM_001288714,p.E64D|ENST00000357134,p.E64D|ENST00000298925,p.E92D|NM_006157,p.E64D|uc009yid.3,p.E92D|NM_001288713,p.E92D|NM_201551,p.E64D	retained_intron, protein_coding, processed_transcript	uc010rdo.2	nonsynonymous SNV	exon3	c.A192C	p.E64D	HNASKAFLFQDIEREIHAAPHVSEK	HNASKAFLFQDIDREIHAAPHVSEK	1.0	6.0	unscreened	-	3881_11:20805233-20805233 A>C_HNASKAFLFQDIDREIHAAPHVSEK
2:138414689-138414689 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1305664,COSM1305663;OCCURENCE=1(urinary_tract)	-	THSD7B	ENST00000413152,p.R1417Q|ENST00000272643,p.R1448Q|ENST00000409968,p.R1445Q	retained_intron, protein_coding, processed_transcript	ENST00000413152	nonsynonymous SNV	exon24	c.G4250A	p.R1417Q	YTWKASLWNNNERTVWCQRSDGVNV	YTWKASLWNNNEQTVWCQRSDGVNV	1.0	3.0	unscreened	-	3881_2:138414689-138414689 G>A_YTWKASLWNNNEQTVWCQRSDGVNV
21:38084890-38084890 G>A	0.0	3881	MELANOMA	-	-	-	-	SIM2	NM_009586,p.E106K|ENST00000430056,p.E106K|NM_005069,p.E106K|uc002yvq.3,p.E106K|ENST00000290399,p.E106K|uc002yvr.2,p.E106K	retained_intron, protein_coding, processed_transcript	uc002yvr.2	nonsynonymous SNV	exon3	c.G316A	p.E106K	VVASDGKIMYISETASVHLGLSQVE	VVASDGKIMYISKTASVHLGLSQVE	1.0	7.0	unscreened	-	3881_21:38084890-38084890 G>A_VVASDGKIMYISKTASVHLGLSQVE
X:137715036-137715036 G>A	0.0	3881	MELANOMA	-	-	-	-	FGF13	NM_001139501,p.S219F|ENST00000441825,p.S219F|NM_004114,p.S238F|ENST00000305414,p.S185F|NM_001139500,p.S248F|uc011mwk.2,p.S192F|NM_033642,p.S185F|NM_001139498,p.S192F|uc004far.3,p.S219F|uc004faq.3,p.S248F|uc004fan.3,p.S185F|uc004fam.3,p.S238F|ENST00000541469,p.S192F|uc011mwi.2,p.S219F|NM_001139502,p.S219F|ENST00000370603,p.S248F|uc011mwj.2,p.S248F|ENST00000315930,p.S238F	protein_coding	uc011mwk.2	nonsynonymous SNV	exon6	c.C575T	p.S192F	SRSVSGVLNGGKSMSHNEST	SRSVSGVLNGGKFMSHNEST	6.0	6.0	unscreened	-	3881_X:137715036-137715036 G>A_SRSVSGVLNGGKFMSHNEST
4:70146441-70146441 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1056944;OCCURENCE=1(endometrium)	-	UGT2B28	NM_053039,p.E75K|uc010ihr.3,p.E75K|ENST00000511240,p.E75K|uc003hej.3,p.E75K|ENST00000335568,p.E75K|NM_001207004,p.E75K	protein_coding	uc010ihr.3	nonsynonymous SNV	exon1	c.G223A	p.E75K	LFDPNDAFTLKLEVYPTSLTKTEFE	LFDPNDAFTLKLKVYPTSLTKTEFE	1.0	9.0	unscreened	-	3881_4:70146441-70146441 G>A_LFDPNDAFTLKLKVYPTSLTKTEFE
1:237947521-237947521 G>A	1.0	3881	MELANOMA	-	-	-	-	RYR2	ENST00000360064,p.R4176K|uc010pya.2,p.R585K|uc001hyl.1,p.R4170K|NM_001035,p.R4170K|ENST00000542537,p.R4154K|ENST00000366574,p.R4170K	protein_coding, processed_transcript	uc010pya.2	nonsynonymous SNV	exon16	c.G1754A	p.R585K	TQWEKPQVKESKRQFIFDVVNEGGE	TQWEKPQVKESKKQFIFDVVNEGGE	3.0	8.0	unscreened	-	3881_1:237947521-237947521 G>A_TQWEKPQVKESKKQFIFDVVNEGGE
1:196928052-196928052 A>G	0.0	3881	MELANOMA	-	-	-	-	CFHR2	uc001gtr.1,p.I95V|ENST00000367415,p.I219V|uc001gtq.1,p.I219V|NM_005666,p.I219V|ENST00000367421,p.I219V	protein_coding, processed_transcript	uc001gtr.1	nonsynonymous SNV	exon3	c.A283G	p.I95V	CVISQEIMEKYNIKLKWTNQQKLYS	CVISQEIMEKYNVKLKWTNQQKLYS	1.0	10.0	unscreened	-	3881_1:196928052-196928052 A>G_CVISQEIMEKYNVKLKWTNQQKLYS
2:31591433-31591433 C>T	0.0	3881	MELANOMA	-	-	-	-	XDH	ENST00000379416,p.E692K|uc002rnv.1,p.E692K|NM_000379,p.E692K	protein_coding, processed_transcript	uc002rnv.1	nonsynonymous SNV	exon19	c.G2074A	p.E692K	QRAAQGVKITYEELPAIITIEDAIK	QRAAQGVKITYEKLPAIITIEDAIK	1.0	5.0	unscreened	-	3881_2:31591433-31591433 C>T_QRAAQGVKITYEKLPAIITIEDAIK
19:49656816-49656816 G>A	0.0	3881	MELANOMA	-	-	-	-	HRC	ENST00000595625,p.A560V|NM_002152,p.A560V|uc002pmv.3,p.A560V|ENST00000252825,p.A560V	retained_intron, protein_coding	uc002pmv.3	nonsynonymous SNV	exon1	c.C1679T	p.A560V	DEERREERAEVGAPLSPDHSEEEEE	DEERREERAEVGVPLSPDHSEEEEE	3.0	7.0	unscreened	-	3881_19:49656816-49656816 G>A_DEERREERAEVGVPLSPDHSEEEEE
1:152975758-152975758 C>T	0.0	3881	MELANOMA	-	-	-	-	SPRR3	uc021ozo.1,p.P88S|uc001fay.2,p.P80S|ENST00000443178,p.P88S|ENST00000295367,p.P88S|NM_005416,p.P88S|NM_001097589,p.P88S|ENST00000331860,p.P88S|uc001fax.4,p.P88S|uc001faz.4,p.P88S	protein_coding, processed_transcript	uc021ozo.1	nonsynonymous SNV	exon1	c.C262T	p.P88S	KVPEPGCTKVPEPGCTKVPEPGCTK	KVPEPGCTKVPESGCTKVPEPGCTK	1.0	10.0	unscreened	-	3881_1:152975758-152975758 C>T_KVPEPGCTKVPESGCTKVPEPGCTK
1:152975758-152975758 C>T	0.0	3881	MELANOMA	-	-	-	-	SPRR3	ENST00000542696,p.P88S	protein_coding, processed_transcript	ENST00000542696	nonsynonymous SNV	exon1	c.C262T	p.P88S	KVPEPGCTKVPEPGCTKVPEPGYTK	KVPEPGCTKVPESGCTKVPEPGYTK	1.0	10.0	unscreened	-	3881_1:152975758-152975758 C>T_KVPEPGCTKVPESGCTKVPEPGYTK
6:127476461-127476461 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1697877;OCCURENCE=1(skin)	1	RSPO3	ENST00000368317,p.G171E|ENST00000356698,p.G171E|NM_032784,p.G171E|uc003qar.3,p.G171E|uc003qas.1,p.G171E	protein_coding, processed_transcript	uc003qas.1	nonsynonymous SNV	exon4	c.G512A	p.G171E	CTKKGKTCGFKRGTETRVREIIQHP	CTKKGKTCGFKRETETRVREIIQHP	1.0	10.0	unscreened	-	3881_6:127476461-127476461 G>A_CTKKGKTCGFKRETETRVREIIQHP
15:53992075-53992075 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1720985;OCCURENCE=2(NS)	-	WDR72	ENST00000396328,p.G546E|ENST00000560036,p.G546E|NM_182758,p.G546E|ENST00000559418,p.G556E|uc031qse.1,p.G546E|uc002acj.2,p.G546E|ENST00000557913,p.G543E|uc010bfi.1,p.G546E|ENST00000360509,p.G546E	protein_coding, processed_transcript	uc031qse.1	nonsynonymous SNV	exon13	c.G1637A	p.G546E	CGDHSVALLHLEGKSCLLHARKHLF	CGDHSVALLHLEEKSCLLHARKHLF	1.0	1.0	unscreened	-	3881_15:53992075-53992075 C>T_CGDHSVALLHLEEKSCLLHARKHLF
9:17416113-17416113 G>A	0.0	3881	MELANOMA	-	-	-	-	CNTLN	ENST00000262360,p.E1014K|NM_017738,p.E1014K|ENST00000425824,p.E1014K|uc003zmz.2,p.E1013K|uc010mio.3,p.E693K|ENST00000380647,p.E1014K|uc003zmy.3,p.E1014K	protein_coding, processed_transcript	uc010mio.3	nonsynonymous SNV	exon14	c.G2077A	p.E693K	KKTAELSVKEYKEVNEKLLHQQQVS	KKTAELSVKEYKKVNEKLLHQQQVS	4.0	10.0	unscreened	-	3881_9:17416113-17416113 G>A_KKTAELSVKEYKKVNEKLLHQQQVS
12:56087097-56087097 G>A	0.0	3881	MELANOMA	-	-	-	-	ITGA7	ENST00000257880,p.S891F|uc010sps.2,p.S754F|ENST00000394229,p.S847F|NM_001144997,p.S754F|ENST00000553804,p.S851F|ENST00000555728,p.S891F|ENST00000347027,p.S841F|uc001shg.3,p.S847F|uc001shh.3,p.S851F|NM_002206,p.S847F|ENST00000394230,p.S851F|ENST00000257879,p.S847F|ENST00000452168,p.S754F|uc009znw.3,p.S94F|uc009znx.3,p.S728F|NM_001144996,p.S851F	retained_intron, protein_coding, nonsense_mediated_decay	uc010sps.2	nonsynonymous SNV	exon20	c.C2261T	p.S754F	DVGSKVKYEVTVSNQGQSLRTLGSA	DVGSKVKYEVTVFNQGQSLRTLGSA	5.0	6.0	unscreened	-	3881_12:56087097-56087097 G>A_DVGSKVKYEVTVFNQGQSLRTLGSA
1:230914769-230914769 A>G	0.0	3881	MELANOMA	-	-	-	-	CAPN9	NM_006615,p.N335S|uc009xfg.1,p.N272S|ENST00000271971,p.N335S|ENST00000366666,p.N272S|ENST00000354537,p.N309S|uc001htz.1,p.N335S|uc001hua.1,p.N309S|NM_016452,p.N309S	protein_coding, processed_transcript	uc009xfg.1	nonsynonymous SNV	exon7	c.A815G	p.N272S	DFKAHFDKVEICNLTPDALEEDAIH	DFKAHFDKVEICSLTPDALEEDAIH	1.0	10.0	unscreened	-	3881_1:230914769-230914769 A>G_DFKAHFDKVEICSLTPDALEEDAIH
12:58135743-58135743 C>T	0.0	3881	MELANOMA	-	-	-	-	AGAP2	NM_014770,p.D38N|uc001spr.3,p.D38N|ENST00000257897,p.D38N	protein_coding	uc001spr.3	nonsynonymous SNV	exon1	c.G112A	p.D38N	LNRLRKLAERVDDPELQDSIQASLD	LNRLRKLAERVDNPELQDSIQASLD	4.0	8.0	unscreened	-	3881_12:58135743-58135743 C>T_LNRLRKLAERVDNPELQDSIQASLD
11:73361669-73361669 G>A	0.0	3881	MELANOMA	-	-	-	-	PLEKHB1	NM_001130034,p.D37N|ENST00000535129,p.D37N|ENST00000543524,p.D37N|ENST00000398492,p.D56N|uc010rrh.1,p.D37N|ENST00000538227,p.D37N|NM_001130035,p.D37N|ENST00000542389,p.D37N|ENST00000354190,p.D56N|ENST00000227214,p.D37N|ENST00000541597,p.D37N|uc001oub.3,p.D56N|NM_001130033,p.D56N|ENST00000536527,p.D37N|uc009ytq.3,p.D37N|ENST00000398494,p.D37N|uc001oua.3,p.D56N|ENST00000535582,p.D37N|NM_021200,p.D56N|uc001oud.3,p.D37N|ENST00000546251,p.D37N|ENST00000539157,p.D44N|ENST00000540431,p.D44N|NM_001130036,p.D37N|uc001ouc.3,p.D37N|ENST00000545798,p.D37N	retained_intron, protein_coding, processed_transcript	uc010rrh.1	nonsynonymous SNV	exon3	c.G109A	p.D37N	ALWLDGTLGYYHDETAQDEEDRVLI	ALWLDGTLGYYHNETAQDEEDRVLI	7.0	10.0	unscreened	-	3881_11:73361669-73361669 G>A_ALWLDGTLGYYHNETAQDEEDRVLI
X:148798134-148798134 C>T	0.0	3881	MELANOMA	-	-	-	-	MAGEA11	NM_001011544,p.P301S|NM_005366,p.P330S|uc004fdr.3,p.P301S|ENST00000355220,p.P330S|uc031tko.1,p.P295S|ENST00000333104,p.P301S|uc004fdq.3,p.P330S	retained_intron, protein_coding	uc031tko.1	nonsynonymous SNV	exon7	c.C883T	p.P295S	VLGVIFMEGNCIPEEVMWEVLSIMG	VLGVIFMEGNCISEEVMWEVLSIMG	2.0	4.0	unscreened	-	3881_X:148798134-148798134 C>T_VLGVIFMEGNCISEEVMWEVLSIMG
22:39497275-39497275 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1714402;OCCURENCE=1(skin)	-	APOBEC3H	NM_001166002,p.E62K|ENST00000421988,p.E62K|uc021wps.1,p.E62K|NM_001166004,p.E62K|ENST00000442487,p.E62K|uc021wpv.1,p.E62K|uc021wpt.1,p.E62K|NM_181773,p.E62K|NM_001166003,p.E62K|ENST00000348946,p.E62K|uc021wpu.1,p.E62K|ENST00000401756,p.E62K	retained_intron, protein_coding	uc021wpv.1	nonsynonymous SNV	exon3	c.G184A	p.E62K	KKKCHAEICFINEIKSMGLDETQCY	KKKCHAEICFINKIKSMGLDETQCY	2.0	4.0	unscreened	-	3881_22:39497275-39497275 G>A_KKKCHAEICFINKIKSMGLDETQCY
3:19554720-19554720 G>A	1.0	3881	MELANOMA	-	-	-	-	KCNH8	ENST00000328405,p.E780K|uc003cbk.1,p.E780K|NM_144633,p.E780K|uc010hex.1,p.E241K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hex.1	nonsynonymous SNV	exon13	c.G721A	p.E241K	RVSRSNSPKTKQEIDPPNHNKRKEK	RVSRSNSPKTKQKIDPPNHNKRKEK	5.0	10.0	-	-	3881_3:19554720-19554720 G>A_RVSRSNSPKTKQKIDPPNHNKRKEK
2:166898934-166898934 C>T	0.0	3881	MELANOMA	-	-	-	-	SCN1A	ENST00000409050,p.G654R|NM_001165964,p.G654R|uc010fpk.3,p.G654R	retained_intron, protein_coding	uc010fpk.3	nonsynonymous SNV	exon12	c.G1960A	p.G654R	HSTVDCNGVVSLGTTTETEMRKRRS	HSTVDCNGVVSLRTTTETEMRKRRS	1.0	2.0	unscreened	-	3881_2:166898934-166898934 C>T_HSTVDCNGVVSLRTTTETEMRKRRS
1:197030931-197030931 G>A	0.0	3881	MELANOMA	-	-	-	-	F13B	uc001gtt.1,p.T145I|ENST00000367412,p.T145I|NM_001994,p.T145I	protein_coding, processed_transcript	uc001gtt.1	nonsynonymous SNV	exon3	c.C434T	p.T145I	VQCLSDGWSSQPTCRKEHETCLAPE	VQCLSDGWSSQPICRKEHETCLAPE	2.0	9.0	unscreened	-	3881_1:197030931-197030931 G>A_VQCLSDGWSSQPICRKEHETCLAPE
13:20004615-20004615 T>A	0.0	3881	MELANOMA	-	-	-	-	TPTE2	uc001ume.3,p.N355I|ENST00000390680,p.N355I|NM_001141968,p.N321I|ENST00000400103,p.N321I|ENST00000400230,p.N432I|NM_001271850,p.N103I|ENST00000382978,p.N392I|NM_199254,p.N432I|NM_130785,p.N355I|ENST00000382977,p.N432I|ENST00000457266,p.N321I|uc009zzl.3,p.N321I|uc010tcl.2,p.N103I|uc001umd.3,p.N432I|ENST00000382975,p.N392I|ENST00000255310,p.N355I|uc009zzm.3,p.N103I	protein_coding, nonsense_mediated_decay	uc010tcl.2	nonsynonymous SNV	exon4	c.A308T	p.N103I	EKKVVFSSTSLGNCSILHDIETDKI	EKKVVFSSTSLGICSILHDIETDKI	1.0	2.0	unscreened	-	3881_13:20004615-20004615 T>A_EKKVVFSSTSLGICSILHDIETDKI
1:210412924-210412924 C>T	0.0	3881	MELANOMA	-	-	-	-	SERTAD4	ENST00000367012,p.H88Y|uc009xcw.3,p.H88Y|NM_019605,p.H88Y|uc001hhy.3,p.H88Y	protein_coding, processed_transcript	uc009xcw.3	nonsynonymous SNV	exon2	c.C262T	p.H88Y	YFKRKYVEEEDFHPPLSSCSHKTIS	YFKRKYVEEEDFYPPLSSCSHKTIS	3.0	10.0	unscreened	-	3881_1:210412924-210412924 C>T_YFKRKYVEEEDFYPPLSSCSHKTIS
1:10713991-10713991 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1332225;OCCURENCE=1(large_intestine)	-	CASZ1	uc009vmx.2,p.S732L|NM_001079843,p.S708L|uc001arp.2,p.S708L|ENST00000377022,p.S708L|NM_017766,p.S708L|ENST00000344008,p.S708L|uc001aro.4,p.S708L	retained_intron, protein_coding, processed_transcript	uc009vmx.2	nonsynonymous SNV	exon9	c.C2195T	p.S732L	HIRSSGALGLPPSLLGAKDTEHEES	HIRSSGALGLPPLLLGAKDTEHEES	5.0	4.0	unscreened	-	3881_1:10713991-10713991 G>A_HIRSSGALGLPPLLLGAKDTEHEES
4:175649762-175649762 C>T	0.0	3881	MELANOMA	-	-	-	-	GLRA3	NM_006529,p.D119N|uc003itz.1,p.D119N|ENST00000340217,p.D119N|ENST00000274093,p.D119N|uc003ity.1,p.D119N|NM_001042543,p.D119N	protein_coding, processed_transcript	uc003itz.1	nonsynonymous SNV	exon4	c.G355A	p.D119N	AYSEYPDDSLDLDPSMLDSIWKPDL	AYSEYPDDSLDLNPSMLDSIWKPDL	1.0	10.0	unscreened	-	3881_4:175649762-175649762 C>T_AYSEYPDDSLDLNPSMLDSIWKPDL
10:115341647-115341647 C>T	0.0	3881	MELANOMA	-	-	-	-	HABP2	uc001lai.4,p.P284L|ENST00000351270,p.P284L|NM_004132,p.P284L|uc021pyr.1,p.P258L|NM_001177660,p.P258L|ENST00000542051,p.P258L	protein_coding, processed_transcript	uc021pyr.1	nonsynonymous SNV	exon9	c.C773T	p.P258L	DVSACSAQDVAYPEESPTEPSTKLP	DVSACSAQDVAYLEESPTEPSTKLP	1.0	9.0	unscreened	-	3881_10:115341647-115341647 C>T_DVSACSAQDVAYLEESPTEPSTKLP
1:228461192-228461192 G>A	1.0	3881	MELANOMA	-	-	-	-	OBSCN	NM_001271223,p.G2069E|uc001hsq.2,p.G2069E|ENST00000359599,p.G541E|ENST00000570156,p.G2069E	retained_intron, protein_coding, processed_transcript	uc001hsq.2	nonsynonymous SNV	exon21	c.G6206A	p.G2069E	RLVVQQAGQADAGEYSCEAGGQRLS	RLVVQQAGQADAEEYSCEAGGQRLS	6.0	10.0	-	-	3881_1:228461192-228461192 G>A_RLVVQQAGQADAEEYSCEAGGQRLS
9:137620603-137620603 C>T	0.0	3881	MELANOMA	-	-	-	-	COL5A1	ENST00000371817,p.P292S|NM_000093,p.P292S|uc004cfe.4,p.P292S|NM_001278074,p.P292S|uc031tfl.1,p.P292S	retained_intron, protein_coding, processed_transcript	uc031tfl.1	nonsynonymous SNV	exon6	c.C874T	p.P292S	YEDPEDLGKEPTPSKKPVEAAKETT	YEDPEDLGKEPTSSKKPVEAAKETT	7.0	10.0	unscreened	-	3881_9:137620603-137620603 C>T_YEDPEDLGKEPTSSKKPVEAAKETT
6:55925787-55925787 C>T	0.0	3881	MELANOMA	-	-	-	-	COL21A1	ENST00000244728,p.G752R|uc003pcs.3,p.G752R|uc003pcr.3,p.G109R|uc010jzz.3,p.G137R|NM_030820,p.G752R|ENST00000370819,p.G749R|uc011dxh.3,p.G152R|ENST00000535941,p.G752R|ENST00000370808,p.G152R|uc011dxg.2,p.G125R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxh.3	nonsynonymous SNV	exon13	c.G454A	p.G152R	GEPGVRGAIGSKGESGVDGLMGPAG	GEPGVRGAIGSKRESGVDGLMGPAG	3.0	1.0	unscreened	-	3881_6:55925787-55925787 C>T_GEPGVRGAIGSKRESGVDGLMGPAG
X:152160085-152160085 C>T	0.0	3881	MELANOMA	-	-	-	-	PNMA5	ENST00000361887,p.A20T|ENST00000535214,p.A20T|uc022chm.1,p.A20T|uc004fgy.4,p.A20T|uc022chn.1,p.A20T|NM_001103151,p.A20T|ENST00000439251,p.A20T|uc010ntx.3,p.A20T|ENST00000437210,p.A20T|uc010ntw.3,p.A20T|NM_001103150,p.A20T|ENST00000452693,p.A20T|NM_001184924,p.A20T|NM_052926,p.A20T	protein_coding	uc022chn.1	nonsynonymous SNV	exon1	c.G58A	p.A20T	DWCKGMDMDPRKALLIVGIPMECSE	DWCKGMDMDPRKTLLIVGIPMECSE	1.0	4.0	unscreened	-	3881_X:152160085-152160085 C>T_DWCKGMDMDPRKTLLIVGIPMECSE
12:6483850-6483850 C>T	0.0	3881	MELANOMA	-	-	-	-	SCNN1A	ENST00000360168,p.E93K|uc001qnx.3,p.E34K|NM_001159576,p.E93K|ENST00000358945,p.E34K|uc010sfb.2,p.E57K|ENST00000543768,p.E57K|ENST00000396966,p.E34K|uc001qnw.3,p.E93K|NM_001159575,p.E57K|NM_001038,p.E34K|ENST00000228916,p.E34K|ENST00000536788,p.E55K|ENST00000338748,p.E34K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sfb.2	nonsynonymous SNV	exon2	c.G169A	p.E57K	KGNKREEQGLGPEPAAPQQPTAEEE	KGNKREEQGLGPKPAAPQQPTAEEE	3.0	8.0	unscreened	-	3881_12:6483850-6483850 C>T_KGNKREEQGLGPKPAAPQQPTAEEE
15:76430187-76430187 G>A	0.0	3881	MELANOMA	-	-	-	-	C15orf27	ENST00000561302,p.A60T|uc002bbq.3,p.A60T|ENST00000388942,p.A60T|NM_152335,p.A60T|ENST00000484722,p.A60T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bbq.3	nonsynonymous SNV	exon3	c.G178A	p.A60T	RDLPLAAVDLSTAGSQLLSNLDEDY	RDLPLAAVDLSTTGSQLLSNLDEDY	1.0	1.0	unscreened	-	3881_15:76430187-76430187 G>A_RDLPLAAVDLSTTGSQLLSNLDEDY
5:167645212-167645212 G>A	0.0	3881	MELANOMA	0.0005	-	-	-	TENM2	uc003lzr.5,p.R1200Q|NM_001122679,p.R1430Q|uc010jje.3,p.R694Q|uc003lzt.4,p.R803Q|ENST00000519204,p.R1318Q|ENST00000520394,p.R1200Q|ENST00000403607,p.R1263Q|ENST00000518659,p.R1439Q|uc010jjd.3,p.R1430Q|ENST00000545108,p.R1438Q	retained_intron, protein_coding, processed_transcript	uc010jje.3	nonsynonymous SNV	exon12	c.G2081A	p.R694Q	NSLYVLENNVILRITENHQVSIIAG	NSLYVLENNVILQITENHQVSIIAG	1.0	6.0	unscreened	-	3881_5:167645212-167645212 G>A_NSLYVLENNVILQITENHQVSIIAG
2:21225789-21225789 C>T	0.0	3881	MELANOMA	-	-	-	-	APOB	uc002red.3,p.D4169N|ENST00000233242,p.D4169N|NM_000384,p.D4169N	protein_coding	uc002red.3	nonsynonymous SNV	exon29	c.G12505A	p.D4169N	TQEGQASFQGLKDNVFDGLVRVTQE	TQEGQASFQGLKNNVFDGLVRVTQE	1.0	1.0	unscreened	-	3881_2:21225789-21225789 C>T_TQEGQASFQGLKNNVFDGLVRVTQE
4:167810352-167810352 G>A	0.0	3881	MELANOMA	-	-	-	-	SPOCK3	uc003irk.4,p.S173L|ENST00000534949,p.S80L|uc003irj.1,p.S173L|uc011cju.1,p.S80L|uc003iri.1,p.S176L|uc011cjt.1,p.S84L|NM_001204356,p.S173L|ENST00000512648,p.S173L|ENST00000541354,p.S56L|uc011cjp.2,p.S173L|NM_001204358,p.S173L|uc011cjs.1,p.S125L|ENST00000511269,p.S173L|ENST00000506886,p.S176L|ENST00000541637,p.S78L|uc011cjq.1,p.S185L|uc011cjv.1,p.S78L|NM_001040159,p.S173L|NM_001204355,p.S80L|NM_001204352,p.S125L|ENST00000504953,p.S173L|NM_016950,p.S176L|NM_001204354,p.S84L|NM_001204353,p.S56L|ENST00000357545,p.S173L|ENST00000511531,p.S176L|NM_001251967,p.S78L|uc021xuf.1,p.S176L|uc011cjr.1,p.S56L|ENST00000502330,p.S176L|ENST00000510741,p.S173L|ENST00000357154,p.S176L|ENST00000421836,p.S125L|ENST00000512681,p.S78L|ENST00000535728,p.S84L	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xuf.1	nonsynonymous SNV	exon6	c.C527T	p.S176L	LEYQACVLGKQISVKCEGHCPCPSD	LEYQACVLGKQILVKCEGHCPCPSD	1.0	2.0	unscreened	-	3881_4:167810352-167810352 G>A_LEYQACVLGKQILVKCEGHCPCPSD
11:93822058-93822058 G>A	0.0	3881	MELANOMA	-	-	-	-	HEPHL1	ENST00000315765,p.E740K|uc001pep.2,p.E740K|NM_001098672,p.E740K	protein_coding	uc001pep.2	nonsynonymous SNV	exon12	c.G2218A	p.E740K	RYGMIRTFYIAAEEVEWDYAPNKNW	RYGMIRTFYIAAKEVEWDYAPNKNW	1.0	9.0	unscreened	-	3881_11:93822058-93822058 G>A_RYGMIRTFYIAAKEVEWDYAPNKNW
20:42164910-42164910 G>A	0.0	3881	MELANOMA	-	-	-	-	L3MBTL1	uc002xkn.1,p.R369K|uc002xkl.3,p.R610K|uc002xko.4,p.R262K|ENST00000427442,p.R678K|NM_032107,p.R678K|ENST00000422861,p.R396K|ENST00000373134,p.R615K|uc010ggl.4,p.R615K|ENST00000373135,p.R610K|NM_015478,p.R610K|ENST00000418998,p.R678K|ENST00000444063,p.R610K|uc010zwh.2,p.R678K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zwh.2	nonsynonymous SNV	exon18	c.G2033A	p.R678K	SARKKNLSGFSPRKKPRHHGRIGRP	SARKKNLSGFSPKKKPRHHGRIGRP	8.0	3.0	unscreened	-	3881_20:42164910-42164910 G>A_SARKKNLSGFSPKKKPRHHGRIGRP
6:169620302-169620302 C>T	0.0	3881	MELANOMA	-	-	ID=COSM230107;OCCURENCE=1(NS),1(large_intestine)	-	THBS2	uc003qwt.3,p.E1168K|ENST00000366787,p.E1168K|NM_003247,p.E1168K	protein_coding, processed_transcript	uc003qwt.3	nonsynonymous SNV	exon22	c.G3502A	p.E1168K	SQEMVYFSDLKYECRDI	SQEMVYFSDLKYKCRDI	7.0	10.0	unscreened	-	3881_6:169620302-169620302 C>T_SQEMVYFSDLKYKCRDI
6:38805815-38805815 C>T	0.0	3881	MELANOMA	-	-	-	-	DNAH8	ENST00000327475,p.T1476I|uc021yzh.1,p.T1488I|uc003ooe.2,p.T1271I|ENST00000449981,p.T1488I|NM_001206927,p.T1488I|ENST00000441566,p.T1271I|ENST00000359357,p.T1271I	protein_coding	uc021yzh.1	nonsynonymous SNV	exon33	c.C4463T	p.T1488I	GLPVTDYEVLHKTRKELNLLQKLYG	GLPVTDYEVLHKIRKELNLLQKLYG	1.0	8.0	unscreened	-	3881_6:38805815-38805815 C>T_GLPVTDYEVLHKIRKELNLLQKLYG
16:71570729-71570729 C>T	0.0	3881	MELANOMA	-	-	-	-	CHST4	ENST00000572450,p.S50F|NM_001166395,p.S50F|ENST00000338482,p.S50F|ENST00000539698,p.S50F|uc002fan.3,p.S50F|uc002fao.3,p.S50F|NM_005769,p.S50F|uc021tkt.1,p.S50F	protein_coding	uc021tkt.1	nonsynonymous SNV	exon1	c.C149T	p.S50F	AQPERMHVLVLSSWRSGSSFVGQLF	AQPERMHVLVLSFWRSGSSFVGQLF	1.0	7.0	unscreened	-	3881_16:71570729-71570729 C>T_AQPERMHVLVLSFWRSGSSFVGQLF
2:51255183-51255183 C>T	0.0	3881	MELANOMA	-	-	-	-	NRXN1	ENST00000406859,p.D77N|NM_004801,p.D77N|NM_001135659,p.D77N|uc021vhh.1,p.D77N|ENST00000404971,p.D77N|ENST00000405472,p.D77N|ENST00000401669,p.D77N|uc021vhk.1,p.D77N|uc021vhj.1,p.D77N|ENST00000402717,p.D77N|uc021vhg.1,p.D77N|ENST00000405581,p.D77N|uc021vhi.1,p.D77N|ENST00000406316,p.D77N	retained_intron, protein_coding, processed_transcript	uc021vhk.1	nonsynonymous SNV	exon2	c.G229A	p.D77N	GLVLYFDDEGFCDFLELILTRGGRL	GLVLYFDDEGFCNFLELILTRGGRL	1.0	8.0	unscreened	-	3881_2:51255183-51255183 C>T_GLVLYFDDEGFCNFLELILTRGGRL
4:175565086-175565086 C>T	0.0	3881	MELANOMA	-	-	-	-	GLRA3	ENST00000274093,p.E416K|ENST00000340217,p.E401K|uc003itz.1,p.E401K|NM_001042543,p.E401K|uc003ity.1,p.E416K|NM_006529,p.E416K	protein_coding, processed_transcript	uc003itz.1	nonsynonymous SNV	exon9	c.G1201A	p.E401K	NHPVQVMPKSPDEMRKVFIDRAKKI	NHPVQVMPKSPDKMRKVFIDRAKKI	1.0	2.0	unscreened	-	3881_4:175565086-175565086 C>T_NHPVQVMPKSPDKMRKVFIDRAKKI
19:17104378-17104378 C>T	0.0	3881	MELANOMA	-	-	-	-	CPAMD8	ENST00000388925,p.D372N|uc002nfb.3,p.D419N|ENST00000443236,p.D419N|NM_015692,p.D419N|ENST00000291440,p.D419N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nfb.3	nonsynonymous SNV	exon12	c.G1255A	p.D419N	LAYVGKVELSYPDGSPAEGVTVQIK	LAYVGKVELSYPNGSPAEGVTVQIK	4.0	7.0	unscreened	-	3881_19:17104378-17104378 C>T_LAYVGKVELSYPNGSPAEGVTVQIK
10:98006761-98006761 C>T	0.0	3881	MELANOMA	-	-	-	-	BLNK	ENST00000413476,p.G31E|uc001klv.4,p.G31E|NM_001258442,p.G31E|ENST00000371176,p.G31E|NM_001258440,p.G31E|ENST00000224337,p.G31E|ENST00000495266,p.G31E|NM_001258441,p.G31E|NM_013314,p.G31E|ENST00000467799,p.G31E|uc001klx.4,p.G31E|uc001kls.4,p.G31E|uc001kma.4,p.G31E|uc001kly.4,p.G31E|NM_001114094,p.G31E|ENST00000427367,p.G31E	retained_intron, protein_coding, nonsense_mediated_decay	uc001kma.4	nonsynonymous SNV	exon2	c.G92A	p.G31E	QKMVHDIKNNEGGIMNKIKKLKVKA	QKMVHDIKNNEGEIMNKIKKLKVKA	6.0	2.0	unscreened	-	3881_10:98006761-98006761 C>T_QKMVHDIKNNEGEIMNKIKKLKVKA
2:201515803-201515803 C>T	0.0	3881	MELANOMA	-	-	-	-	AOX1	uc010fsu.3,p.S351F|uc002uvx.3,p.S985F|uc010zhf.2,p.S541F|NM_001159,p.S985F|ENST00000374700,p.S985F	retained_intron, protein_coding, processed_transcript	uc010zhf.2	nonsynonymous SNV	exon14	c.C1622T	p.S541F	LIQCWRECMAMSSYSLRKVAVEKFN	LIQCWRECMAMSFYSLRKVAVEKFN	4.0	3.0	unscreened	-	3881_2:201515803-201515803 C>T_LIQCWRECMAMSFYSLRKVAVEKFN
16:66956020-66956020 G>A	0.0	3881	MELANOMA	-	-	ID=COSM972248;OCCURENCE=1(large_intestine),1(skin),1(endometrium)	-	RRAD	ENST00000299759,p.R296C|NM_004165,p.R296C|uc002eqn.2,p.R296C|uc002eqo.2,p.R296C|NM_001128850,p.R296C|ENST00000420652,p.R296C	retained_intron, protein_coding	uc002eqo.2	nonsynonymous SNV	exon5	c.C886T	p.R296C	RIVARNSRKMAFRAKSKSCHDLSVL	RIVARNSRKMAFCAKSKSCHDLSVL	3.0	3.0	unscreened	-	3881_16:66956020-66956020 G>A_RIVARNSRKMAFCAKSKSCHDLSVL
10:71682509-71682509 G>A	0.0	3881	MELANOMA	-	-	-	-	COL13A1	uc021psg.1,p.E364K|ENST00000479733,p.E395K|ENST00000356340,p.E386K|ENST00000398969,p.E329K|ENST00000398964,p.E357K|ENST00000398971,p.E386K|uc021psb.1,p.E335K|NM_080800,p.E367K|ENST00000357811,p.E364K|ENST00000398972,p.E386K|ENST00000520133,p.E335K|uc021psf.1,p.E386K|ENST00000354547,p.E364K|ENST00000522165,p.E367K|uc021psa.1,p.E329K|uc001jqk.2,p.E364K|uc001jql.3,p.E386K|ENST00000398968,p.E367K|ENST00000398978,p.E386K|uc010qjf.2,p.E329K|uc021psd.1,p.E364K|ENST00000517713,p.E364K|NM_080798,p.E329K|uc021prz.1,p.E364K|ENST00000398966,p.E364K|uc021psc.1,p.E367K|uc021pse.1,p.E335K|uc021psh.1,p.E367K|ENST00000398973,p.E386K|NM_001130103,p.E386K|ENST00000520267,p.E329K|ENST00000398974,p.E374K|NM_080801,p.E364K|NM_080802,p.E364K|NM_080805,p.E335K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021psh.1	nonsynonymous SNV	exon21	c.G1099A	p.E367K	GDAGNSIGGGRGEPGPPGLPGPPGP	GDAGNSIGGGRGKPGPPGLPGPPGP	3.0	10.0	unscreened	-	3881_10:71682509-71682509 G>A_GDAGNSIGGGRGKPGPPGLPGPPGP
2:114002077-114002077 C>T	0.0	3881	MELANOMA	-	-	-	1	PAX8	ENST00000263335,p.E106K|NM_013953,p.E106K|ENST00000263334,p.E106K|uc010yxu.2,p.E106K|NM_013952,p.E106K|uc010yxt.2,p.E106K|ENST00000348715,p.E106K|uc002tjn.3,p.E106K|NM_013992,p.E106K|NM_003466,p.E106K|ENST00000397647,p.E106K|ENST00000429538,p.E106K|uc010fku.1,p.E106K|uc002tjm.3,p.E106K	retained_intron, protein_coding, nonsense_mediated_decay	uc010yxu.2	nonsynonymous SNV	exon4	c.G316A	p.E106K	DYKRQNPTMFAWEIRDRLLAEGVCD	DYKRQNPTMFAWKIRDRLLAEGVCD	3.0	6.0	unscreened	-	3881_2:114002077-114002077 C>T_DYKRQNPTMFAWKIRDRLLAEGVCD
15:45545652-45545652 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC28A2	NM_004212,p.G35E|uc001zva.2,p.G35E|ENST00000347644,p.G35E	protein_coding, processed_transcript, nonsense_mediated_decay	uc001zva.2	nonsynonymous SNV	exon3	c.G104A	p.G35E	GLELMEKEVEPEGSKRTDAQGHSLG	GLELMEKEVEPEESKRTDAQGHSLG	1.0	10.0	unscreened	-	3881_15:45545652-45545652 G>A_GLELMEKEVEPEESKRTDAQGHSLG
15:45545652-45545652 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC28A2	ENST00000560438,p.G23E	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000560438	nonsynonymous SNV	exon2	c.G68A	p.G23E	IPQAGEKEVEPEGSKRTDAQGHSLG	IPQAGEKEVEPEESKRTDAQGHSLG	1.0	10.0	unscreened	-	3881_15:45545652-45545652 G>A_IPQAGEKEVEPEESKRTDAQGHSLG
1:215847533-215847533 C>T	0.0	3881	MELANOMA	-	-	-	-	USH2A	NM_206933,p.E4574K|ENST00000307340,p.E4574K|uc001hku.1,p.E4574K|ENST00000366943,p.E4574K	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon63	c.G13720A	p.E4574K	IINYTLFIRELFERETKIIHINTTH	IINYTLFIRELFKRETKIIHINTTH	1.0	1.0	unscreened	-	3881_1:215847533-215847533 C>T_IINYTLFIRELFKRETKIIHINTTH
X:35820630-35820630 G>A	0.0	3881	MELANOMA	-	-	-	-	MAGEB16	ENST00000399988,p.R106K|ENST00000399987,p.R106K|uc010ngt.1,p.R106K|ENST00000399989,p.R106K|NM_001099921,p.R106K|uc022bus.1,p.R106K|ENST00000399992,p.R138K|ENST00000399985,p.R106K	protein_coding	uc022bus.1	nonsynonymous SNV	exon1	c.G317A	p.R106K	DSPSSSEDTSDPRNVPADALDQKVA	DSPSSSEDTSDPKNVPADALDQKVA	2.0	10.0	unscreened	-	3881_X:35820630-35820630 G>A_DSPSSSEDTSDPKNVPADALDQKVA
5:80640844-80640844 G>A	0.0	3881	MELANOMA	-	-	-	-	ACOT12	uc003khl.4,p.R264C|ENST00000307624,p.R264C|NM_130767,p.R264C	retained_intron, protein_coding, processed_transcript	uc003khl.4	nonsynonymous SNV	exon8	c.C790T	p.R264C	NNTFQTCVEVGVRVEAFDCQEWAEG	NNTFQTCVEVGVCVEAFDCQEWAEG	1.0	9.0	unscreened	-	3881_5:80640844-80640844 G>A_NNTFQTCVEVGVCVEAFDCQEWAEG
11:74800065-74800065 G>A	0.0	3881	MELANOMA	-	-	-	-	OR2AT4	uc010rro.2,p.R232C|ENST00000305159,p.R232C|NM_001005285,p.R232C	protein_coding	uc010rro.2	nonsynonymous SNV	exon1	c.C694T	p.R232C	LLSYVHILASVLRISSLEGRAKAFS	LLSYVHILASVLCISSLEGRAKAFS	1.0	9.0	unscreened	-	3881_11:74800065-74800065 G>A_LLSYVHILASVLCISSLEGRAKAFS
15:90020400-90020400 C>T	0.0	3881	MELANOMA	-	-	-	-	RHCG	ENST00000268122,p.D384N|NM_016321,p.D384N|ENST00000544600,p.D384N|uc002bnz.2,p.D384N	retained_intron, protein_coding, nonsense_mediated_decay	uc002bnz.2	nonsynonymous SNV	exon8	c.G1150A	p.D384N	LVHSFDFQGFNGDWTARTQGKFQIY	LVHSFDFQGFNGNWTARTQGKFQIY	1.0	9.0	unscreened	-	3881_15:90020400-90020400 C>T_LVHSFDFQGFNGNWTARTQGKFQIY
1:175332963-175332963 C>T	0.0	3881	MELANOMA	-	-	-	-	TNR	uc001gkp.1,p.G863E|NM_003285,p.G863E|uc009wwu.1,p.G863E|ENST00000263525,p.G863E|ENST00000367674,p.G863E	protein_coding	uc009wwu.1	nonsynonymous SNV	exon13	c.G2588A	p.G863E	VTSEPIVGSITTGIDPPKDITISNV	VTSEPIVGSITTEIDPPKDITISNV	1.0	1.0	unscreened	-	3881_1:175332963-175332963 C>T_VTSEPIVGSITTEIDPPKDITISNV
9:4286086-4286086 G>A	1.0	3881	MELANOMA	-	-	-	-	GLIS3	ENST00000481827,p.P114S|uc003zic.1,p.P114S|NM_001042413,p.P114S|uc003zhx.1,p.P114S|uc003zii.1,p.P114S|ENST00000381971,p.P114S|ENST00000477901,p.P114S|uc003zie.1,p.P114S|ENST00000491889,p.P114S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zii.1	nonsynonymous SNV	exon2	c.C340T	p.P114S	QAGGMSGSHTLKPKQQEFGSPFPPN	QAGGMSGSHTLKSKQQEFGSPFPPN	6.0	10.0	-	-	3881_9:4286086-4286086 G>A_QAGGMSGSHTLKSKQQEFGSPFPPN
1:201292189-201292189 G>A	0.0	3881	MELANOMA	-	-	-	-	PKP1	NM_000299,p.G539S|uc001gwe.3,p.G518S|ENST00000352845,p.G539S|NM_001005337,p.G518S|uc001gwd.3,p.G539S|uc009wzm.3,p.G126S|ENST00000367324,p.G518S|ENST00000263946,p.G539S	protein_coding, processed_transcript	uc009wzm.3	nonsynonymous SNV	exon9	c.G376A	p.G126S	DCPLPEEETNPKGSGWLYHSDAIRT	DCPLPEEETNPKSSGWLYHSDAIRT	1.0	1.0	unscreened	-	3881_1:201292189-201292189 G>A_DCPLPEEETNPKSSGWLYHSDAIRT
16:72827386-72827386 T>A	1.0	3881	MELANOMA	-	-	-	1	ZFHX3	NM_006885,p.E3065D|ENST00000397992,p.E2151D|ENST00000268489,p.E3065D|uc002fcl.3,p.E2151D|uc002fck.3,p.E3065D|NM_001164766,p.E2151D	retained_intron, protein_coding	uc002fcl.3	nonsynonymous SNV	exon8	c.A6453T	p.E2151D	KDTIGSQLDKEKEYFDPATVRQLMA	KDTIGSQLDKEKDYFDPATVRQLMA	7.0	4.0	unscreened	-	3881_16:72827386-72827386 T>A_KDTIGSQLDKEKDYFDPATVRQLMA
11:57996058-57996058 G>A	0.0	3881	MELANOMA	-	-	-	-	OR10Q1	uc010rkd.2,p.S97L|NM_001004471,p.S97L|ENST00000316770,p.S97L	protein_coding	uc010rkd.2	nonsynonymous SNV	exon1	c.C290T	p.S97L	MLSNILGAQKPISLAGCGAQMFFFV	MLSNILGAQKPILLAGCGAQMFFFV	1.0	6.0	unscreened	-	3881_11:57996058-57996058 G>A_MLSNILGAQKPILLAGCGAQMFFFV
1:237780760-237780760 G>A	1.0	3881	MELANOMA	-	-	-	-	RYR2	uc001hyl.1,p.E1964K|ENST00000542537,p.E1948K|NM_001035,p.E1964K|ENST00000366574,p.E1964K|ENST00000360064,p.E1962K	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon38	c.G5890A	p.E1964K	NMSAALTARKTKEFRSPPQEQINML	NMSAALTARKTKKFRSPPQEQINML	3.0	10.0	-	-	3881_1:237780760-237780760 G>A_NMSAALTARKTKKFRSPPQEQINML
1:212860321-212860321 C>T	0.0	3881	MELANOMA	-	-	-	-	BATF3	NM_018664,p.E66K|uc001hjl.2,p.E66K|ENST00000243440,p.E66K	protein_coding, processed_transcript	uc001hjl.2	nonsynonymous SNV	exon3	c.G196A	p.E66K	KKQTQKADKLHEEYESLEQENTMLR	KKQTQKADKLHEKYESLEQENTMLR	3.0	1.0	unscreened	-	3881_1:212860321-212860321 C>T_KKQTQKADKLHEKYESLEQENTMLR
17:34074254-34074254 G>A	0.0	3881	MELANOMA	-	-	-	-	GAS2L2	ENST00000254466,p.A289V|uc002hjv.2,p.A289V|ENST00000587565,p.A273V|NM_139285,p.A289V	protein_coding	uc002hjv.2	nonsynonymous SNV	exon5	c.C866T	p.A289V	LSHKPGSFLKPPAPPVQHEVRVQDG	LSHKPGSFLKPPVPPVQHEVRVQDG	1.0	4.0	unscreened	-	3881_17:34074254-34074254 G>A_LSHKPGSFLKPPVPPVQHEVRVQDG
5:168233455-168233455 C>T	0.0	3881	MELANOMA	-	-	-	-	SLIT3	NM_001271946,p.E311K|NM_003062,p.E311K|ENST00000404867,p.E311K|ENST00000332966,p.E311K|uc003mab.4,p.E311K|uc010jji.2,p.E311K|uc010jjg.4,p.E311K|ENST00000519560,p.E311K|uc003mac.1,p.E108K	retained_intron, protein_coding, processed_transcript	uc010jji.2	nonsynonymous SNV	exon9	c.G931A	p.E311K	MEIPANLPEGIVEIRLEQNSIKAIP	MEIPANLPEGIVKIRLEQNSIKAIP	4.0	4.0	unscreened	-	3881_5:168233455-168233455 C>T_MEIPANLPEGIVKIRLEQNSIKAIP
2:103120024-103120024 T>C	0.0	3881	MELANOMA	-	-	-	-	SLC9A4	ENST00000295269,p.F280L|uc002tbz.4,p.F280L|NM_001011552,p.F280L	retained_intron, protein_coding	uc002tbz.4	nonsynonymous SNV	exon3	c.T838C	p.F280L	ARFIVVGLGGVLFGIVFGFISAFIT	ARFIVVGLGGVLLGIVFGFISAFIT	1.0	7.0	unscreened	-	3881_2:103120024-103120024 T>C_ARFIVVGLGGVLLGIVFGFISAFIT
6:29430111-29430111 G>A	0.0	3881	MELANOMA	-	-	-	-	OR2H1	ENST00000377133,p.D189N|uc003nmi.3,p.D189N|uc031smz.1,p.D111N|ENST00000377136,p.D189N|uc003nmj.1,p.D189N|NM_030883,p.D189N|ENST00000377132,p.D189N|uc021ytr.1,p.D189N|ENST00000442615,p.D189N|ENST00000396792,p.D189N	protein_coding, processed_transcript	uc031smz.1	nonsynonymous SNV	exon2	c.G331A	p.D111N	CEVPSLIRLSCGDTSYNEIQLAVSS	CEVPSLIRLSCGNTSYNEIQLAVSS	1.0	2.0	unscreened	-	3881_6:29430111-29430111 G>A_CEVPSLIRLSCGNTSYNEIQLAVSS
10:55892767-55892767 C>T	0.0	3881	MELANOMA	-	-	-	-	PCDH15	ENST00000373956,p.G31E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000373956	nonsynonymous SNV	exon3	c.G92A	p.G31E	SLFEICLGQYDDGTPSALCILKCFH	SLFEICLGQYDDETPSALCILKCFH	1.0	1.0	unscreened	-	3881_10:55892767-55892767 C>T_SLFEICLGQYDDETPSALCILKCFH
17:7979575-7979575 C>T	0.0	3881	MELANOMA	-	-	-	-	ALOX12B	uc002gjy.1,p.D484N|ENST00000319144,p.D484N|NM_001139,p.D484N	retained_intron, protein_coding, processed_transcript	uc002gjy.1	nonsynonymous SNV	exon11	c.G1450A	p.D484N	SELTYDSLYLPNDFVERGVQDLPGY	SELTYDSLYLPNNFVERGVQDLPGY	2.0	4.0	unscreened	-	3881_17:7979575-7979575 C>T_SELTYDSLYLPNNFVERGVQDLPGY
14:93963608-93963608 G>A	0.0	3881	MELANOMA	-	-	-	-	UNC79	ENST00000555664,p.E292K|ENST00000256339,p.E115K|ENST00000393151,p.E292K|ENST00000553484,p.E292K|uc001ybv.1,p.E115K|NM_020818,p.E115K|uc001ybs.1,p.E115K	retained_intron, protein_coding	uc001ybv.1	nonsynonymous SNV	exon4	c.G343A	p.E115K	YWPNLKPPGAISEYRGLQYTAWNPI	YWPNLKPPGAISKYRGLQYTAWNPI	1.0	2.0	unscreened	-	3881_14:93963608-93963608 G>A_YWPNLKPPGAISKYRGLQYTAWNPI
X:48047167-48047167 C>T	0.0	3881	MELANOMA	-	-	-	-	SSX5	uc004diz.1,p.G197E|NM_175723,p.G156E|ENST00000347757,p.G156E|ENST00000311798,p.G197E|uc004dja.1,p.G156E|ENST00000376923,p.G156E|ENST00000403001,p.G96E|NM_021015,p.G197E	protein_coding	uc004dja.1	nonsynonymous SNV	exon7	c.G467A	p.G156E	KLNTSEKVNKTSGPKRGKHAWTHRV	KLNTSEKVNKTSEPKRGKHAWTHRV	3.0	10.0	unscreened	-	3881_X:48047167-48047167 C>T_KLNTSEKVNKTSEPKRGKHAWTHRV
2:47256510-47256510 C>T	0.0	3881	MELANOMA	-	-	-	-	TTC7A	uc002rvn.1,p.P478S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rvn.1	nonsynonymous SNV	exon16	c.C1432T	p.P478S	ALDVVNMAITEHPENFKGLEKDGSF	ALDVVNMAITEHSENFKGLEKDGSF	6.0	2.0	unscreened	-	3881_2:47256510-47256510 C>T_ALDVVNMAITEHSENFKGLEKDGSF
1:248367286-248367286 G>A	0.0	3881	MELANOMA	-	-	-	-	OR2M3	uc010pzg.2,p.G306E|ENST00000456743,p.G306E|NM_001004689,p.G306E	protein_coding	uc010pzg.2	nonsynonymous SNV	exon1	c.G917A	p.G306E	NKEVTRAFMKILGKGKSGE	NKEVTRAFMKILEKGKSGE	1.0	8.0	unscreened	-	3881_1:248367286-248367286 G>A_NKEVTRAFMKILEKGKSGE
2:108921952-108921952 G>A	0.0	3881	MELANOMA	-	-	-	-	SULT1C2	uc002tdx.3,p.E238K|ENST00000437390,p.E241K|uc010ywp.1,p.E142K|ENST00000409880,p.E190K|uc002tdy.3,p.E227K|ENST00000251481,p.E227K|NM_001056,p.E227K|uc010ywq.2,p.E241K|ENST00000326853,p.E238K|NM_176825,p.E238K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ywq.2	nonsynonymous SNV	exon7	c.G721A	p.E241K	KVDETVLDKIVQETSFEKMKENPMT	KVDETVLDKIVQKTSFEKMKENPMT	5.0	10.0	unscreened	-	3881_2:108921952-108921952 G>A_KVDETVLDKIVQKTSFEKMKENPMT
17:10215965-10215965 C>T	0.0	3881	MELANOMA	-	-	-	-	MYH13	ENST00000252172,p.D1431N|uc002gmk.1,p.D1431N|ENST00000570743,p.D1431N|ENST00000418404,p.D1431N|NM_003802,p.D1431N	protein_coding	uc002gmk.1	nonsynonymous SNV	exon31	c.G4291A	p.D1431N	EKTKQRLQGEVEDLMRDLERSHTAC	EKTKQRLQGEVENLMRDLERSHTAC	1.0	8.0	unscreened	-	3881_17:10215965-10215965 C>T_EKTKQRLQGEVENLMRDLERSHTAC
7:47832314-47832314 G>A	0.0	3881	MELANOMA	-	-	-	-	PKD1L1	uc003tny.2,p.P2813S|ENST00000289672,p.P2813S|NM_138295,p.P2813S	retained_intron, protein_coding, processed_transcript	uc003tny.2	nonsynonymous SNV	exon56	c.C8437T	p.P2813S	MKINGLSDSLQLPLLEKTSNNTGEA	MKINGLSDSLQLSLLEKTSNNTGEA	2.0	1.0	unscreened	-	3881_7:47832314-47832314 G>A_MKINGLSDSLQLSLLEKTSNNTGEA
3:121100155-121100155 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1670485;OCCURENCE=1(large_intestine)	-	STXBP5L	ENST00000471262,p.S755F	protein_coding, nonsense_mediated_decay	ENST00000471262	nonsynonymous SNV	exon21	c.C2264T	p.S755F	RCKSPTSENRENSYNRSRSSSISSI	RCKSPTSENRENFYNRSRSSSISSI	1.0	9.0	unscreened	-	3881_3:121100155-121100155 C>T_RCKSPTSENRENFYNRSRSSSISSI
4:7776579-7776579 C>T	1.0	3881	MELANOMA	-	-	-	-	AFAP1	ENST00000420658,p.R650Q|ENST00000358461,p.R566Q|uc011bwk.1,p.R650Q|ENST00000382543,p.R650Q|NM_001134647,p.R650Q|ENST00000360265,p.R566Q|NM_198595,p.R566Q|uc003gkg.1,p.R566Q	retained_intron, protein_coding, processed_transcript	uc011bwk.1	nonsynonymous SNV	exon15	c.G1949A	p.R650Q	KYGKNRVEADAKRLQTKEEELLKRK	KYGKNRVEADAKQLQTKEEELLKRK	7.0	9.0	-	-	3881_4:7776579-7776579 C>T_KYGKNRVEADAKQLQTKEEELLKRK
18:28916467-28916467 C>T	0.0	3881	MELANOMA	-	-	-	-	DSG1	uc002kwp.3,p.R386C|ENST00000257192,p.R386C|NM_001942,p.R386C	protein_coding	uc002kwp.3	nonsynonymous SNV	exon9	c.C1156T	p.R386C	VTVLNVIEGPVFRPGSKTYVVTGNM	VTVLNVIEGPVFCPGSKTYVVTGNM	1.0	8.0	unscreened	-	3881_18:28916467-28916467 C>T_VTVLNVIEGPVFCPGSKTYVVTGNM
19:31768754-31768754 C>T	0.0	3881	MELANOMA	-	-	-	-	TSHZ3	NM_020856,p.E649K|ENST00000240587,p.E649K|uc002nsy.4,p.E649K	protein_coding, processed_transcript	uc002nsy.4	nonsynonymous SNV	exon2	c.G1945A	p.E649K	PPKRATPSPCSSEVGEPIKMEASSD	PPKRATPSPCSSKVGEPIKMEASSD	5.0	9.0	unscreened	-	3881_19:31768754-31768754 C>T_PPKRATPSPCSSKVGEPIKMEASSD
12:11420704-11420704 C>T	0.0	3881	MELANOMA	-	-	-	-	PRB3	uc001qzs.3,p.G160E|ENST00000538488,p.G139E|ENST00000381842,p.G160E|NM_006249,p.G160E	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	uc001qzs.3	nonsynonymous SNV	exon3	c.G479A	p.G160E	GGNQSQGPPPRPGKPEGPPPQGGNQ	GGNQSQGPPPRPEKPEGPPPQGGNQ	1.0	10.0	unscreened	-	3881_12:11420704-11420704 C>T_GGNQSQGPPPRPEKPEGPPPQGGNQ
2:179582913-179582913 C>T	0.0	3881	MELANOMA	0.0009	-	-	-	TTN	NM_001256850,p.E7957K|NM_001267550,p.E8274K|ENST00000342992,p.E7030K|ENST00000589042,p.E8274K|uc021vsy.2,p.E7030K|uc031rqc.1,p.E8274K|uc002umz.1,p.E3691K|ENST00000591111,p.E7957K|uc031rqd.1,p.E7957K|NM_133378,p.E7030K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon84	c.G23869A	p.E7957K	EPPYFIEPLEHVEAVIGEPATLQCK	EPPYFIEPLEHVKAVIGEPATLQCK	2.0	6.0	unscreened	-	3881_2:179582913-179582913 C>T_EPPYFIEPLEHVKAVIGEPATLQCK
1:223286310-223286310 G>A	0.0	3881	MELANOMA	-	-	-	-	TLR5	uc001hnv.2,p.P22S|NM_003268,p.P22S|ENST00000540964,p.P22S|ENST00000342210,p.P22S|uc001hnw.2,p.P22S|ENST00000366881,p.P22S|uc021pjl.1,p.P22S	protein_coding, processed_transcript	uc021pjl.1	nonsynonymous SNV	exon1	c.C64T	p.P22S	GVVLMAGPVFGIPSCSFDGRIAFYR	GVVLMAGPVFGISSCSFDGRIAFYR	4.0	9.0	unscreened	-	3881_1:223286310-223286310 G>A_GVVLMAGPVFGISSCSFDGRIAFYR
X:110576315-110576315 G>A	0.0	3881	MELANOMA	-	-	ID=COSM140903;OCCURENCE=1(skin)	-	DCX	uc004epd.3,p.R339C|NM_000555,p.R339C|ENST00000356915,p.R258C|uc011msv.2,p.R339C|uc004epg.3,p.R258C|NM_178151,p.R258C|NM_001195553,p.R258C|ENST00000338081,p.R339C|ENST00000371993,p.R258C|NM_178152,p.R258C|uc004epf.3,p.R258C|ENST00000488120,p.R258C|ENST00000356220,p.R258C|uc004epe.3,p.R258C|NM_178153,p.R258C	protein_coding, processed_transcript	uc011msv.2	nonsynonymous SNV	exon4	c.C1015T	p.R339C	DDVFIACGPEKFRYAQDDFSLDENE	DDVFIACGPEKFCYAQDDFSLDENE	1.0	8.0	unscreened	-	3881_X:110576315-110576315 G>A_DDVFIACGPEKFCYAQDDFSLDENE
1:153066065-153066065 G>A	0.0	3881	MELANOMA	-	-	-	-	SPRR2E	NM_001024209,p.P55S|ENST00000368750,p.P55S|uc001fbh.3,p.P55S|ENST00000368751,p.P55S|uc021ozs.1,p.P55S	protein_coding	uc021ozs.1	nonsynonymous SNV	exon1	c.C163T	p.P55S	QPCPPQQCQQKCPPVTPSPPCQPKC	QPCPPQQCQQKCSPVTPSPPCQPKC	1.0	1.0	unscreened	-	3881_1:153066065-153066065 G>A_QPCPPQQCQQKCSPVTPSPPCQPKC
17:74621917-74621917 A>G	0.0	3881	MELANOMA	-	-	-	-	ST6GALNAC1	ENST00000156626,p.L530P|uc002jsh.3,p.L530P|uc002jsi.3,p.L398P|NM_018414,p.L530P|NM_001289107,p.L398P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jsi.3	nonsynonymous SNV	exon9	c.T1193C	p.L398P	RPTTGALLLLTALQLCDQVSAYGFI	RPTTGALLLLTAPQLCDQVSAYGFI	3.0	4.0	unscreened	-	3881_17:74621917-74621917 A>G_RPTTGALLLLTAPQLCDQVSAYGFI
8:144947238-144947238 C>T	0.0	3881	MELANOMA	-	-	-	-	EPPK1	ENST00000525985,p.E62K|uc003zaa.1,p.E62K|NM_031308,p.E62K	protein_coding	uc003zaa.1	nonsynonymous SNV	exon1	c.G184A	p.E62K	ASGQAQSVYAAMEQGLLPAGLGQAL	ASGQAQSVYAAMKQGLLPAGLGQAL	1.0	8.0	unscreened	-	3881_8:144947238-144947238 C>T_ASGQAQSVYAAMKQGLLPAGLGQAL
3:121100155-121100155 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1670485;OCCURENCE=1(large_intestine)	-	STXBP5L	ENST00000497029,p.S786F	protein_coding, nonsense_mediated_decay	ENST00000497029	nonsynonymous SNV	exon23	c.C2357T	p.S786F	NQVYHLPENRENSYNRSRSSSISSI	NQVYHLPENRENFYNRSRSSSISSI	1.0	9.0	unscreened	-	3881_3:121100155-121100155 C>T_NQVYHLPENRENFYNRSRSSSISSI
11:88242493-88242493 C>T	0.0	3881	MELANOMA	-	-	-	-	GRM5	uc009yvm.3,p.G937E|ENST00000418177,p.G969E|ENST00000305432,p.G937E|NM_000842,p.G937E|ENST00000305447,p.G969E|ENST00000455756,p.G937E|uc001pcq.3,p.G969E|NM_001143831,p.G969E	protein_coding	uc009yvm.3	nonsynonymous SNV	exon9	c.G2810A	p.G937E	ESRGLGAGAGAGGSAGGVGATGGAG	ESRGLGAGAGAGESAGGVGATGGAG	1.0	10.0	unscreened	-	3881_11:88242493-88242493 C>T_ESRGLGAGAGAGESAGGVGATGGAG
7:82785022-82785022 C>T	1.0	3881	MELANOMA	-	-	-	-	PCLO	NM_033026,p.G312E|ENST00000423517,p.G312E|NM_014510,p.G312E|ENST00000333891,p.G312E|uc003uhv.2,p.G312E|uc003uhx.2,p.G312E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon2	c.G935A	p.G312E	SPSKPPIQQPTPGKPPAQQPGHEKS	SPSKPPIQQPTPEKPPAQQPGHEKS	6.0	8.0	unscreened	-	3881_7:82785022-82785022 C>T_SPSKPPIQQPTPEKPPAQQPGHEKS
7:31904630-31904630 G>A	0.0	3881	MELANOMA	-	-	-	-	PDE1C	uc003tcr.3,p.P226S|ENST00000396193,p.P286S|NM_001191059,p.P226S|NM_005020,p.P226S|uc003tcm.2,p.P226S|ENST00000396184,p.P226S|uc003tco.2,p.P286S|ENST00000321453,p.P226S|uc003tcs.3,p.P226S|NM_001191058,p.P286S|NM_001191056,p.P226S|NM_001191057,p.P226S|ENST00000396191,p.P226S|uc003tcn.1,p.P226S|ENST00000396182,p.P226S	retained_intron, protein_coding, processed_transcript	uc003tcs.3	nonsynonymous SNV	exon8	c.C676T	p.P226S	EALEVGYSKHKNPYHNLMHAADVTQ	EALEVGYSKHKNSYHNLMHAADVTQ	3.0	5.0	unscreened	-	3881_7:31904630-31904630 G>A_EALEVGYSKHKNSYHNLMHAADVTQ
15:38228556-38228556 G>A	0.0	3881	MELANOMA	-	-	-	-	TMCO5A	ENST00000540944,p.R11K|ENST00000558148,p.R11K|ENST00000560841,p.R11K|uc001zjw.3,p.R11K|ENST00000559502,p.R11K|ENST00000319669,p.R11K|uc001zjv.1,p.R11K|ENST00000558625,p.R11K|ENST00000558158,p.R11K|ENST00000560653,p.R11K|uc010bbc.1,p.R11K|NM_152453,p.R11K	retained_intron, protein_coding, nonsense_mediated_decay	uc010bbc.1	nonsynonymous SNV	exon2	c.G32A	p.R11K	MEISRLAQSKRNIISLNMDLERD	MEISRLAQSKKNIISLNMDLERD	1.0	9.0	unscreened	-	3881_15:38228556-38228556 G>A_MEISRLAQSKKNIISLNMDLERD
2:215891649-215891649 C>T	0.0	3881	MELANOMA	-	-	-	-	ABCA12	ENST00000389661,p.E41K|NM_015657,p.E41K|ENST00000272895,p.E359K|NM_173076,p.E359K|uc002vew.3,p.E359K|uc002vev.3,p.E41K	protein_coding	uc002vew.3	nonsynonymous SNV	exon10	c.G1075A	p.E359K	SPSSLAAQLLILENFEDALLNISAN	SPSSLAAQLLILKNFEDALLNISAN	1.0	2.0	unscreened	-	3881_2:215891649-215891649 C>T_SPSSLAAQLLILKNFEDALLNISAN
3:195517859-195517859 G>A	0.0	3881	MELANOMA	-	-	-	2	MUC4	ENST00000479406,p.H198Y|ENST00000462323,p.H198Y|ENST00000475231,p.H198Y|uc021xjq.1,p.H80Y|ENST00000463781,p.H198Y|ENST00000477086,p.H198Y|ENST00000478156,p.H198Y|uc021xjp.1,p.H198Y|ENST00000470451,p.H198Y|ENST00000466475,p.H198Y|NM_018406,p.H198Y|ENST00000477756,p.H198Y|ENST00000480843,p.H198Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjq.1	nonsynonymous SNV	exon1	c.C238T	p.H80Y	TSIQDTSASSQNHWTRSTQTTRESQ	TSIQDTSASSQNYWTRSTQTTRESQ	1.0	2.0	unscreened	-	3881_3:195517859-195517859 G>A_TSIQDTSASSQNYWTRSTQTTRESQ
2:234526891-234526891 G>A	0.0	3881	MELANOMA	-	-	-	-	UGT1A8	uc002vup.3,p.G180S|uc010zmv.1,p.G180S|NM_019076,p.G180S|ENST00000373450,p.G180S	protein_coding	uc010zmv.1	nonsynonymous SNV	exon1	c.G538A	p.G180S	FARGIACHYLEEGAQCPAPLSYVPR	FARGIACHYLEESAQCPAPLSYVPR	1.0	2.0	unscreened	-	3881_2:234526891-234526891 G>A_FARGIACHYLEESAQCPAPLSYVPR
1:110255800-110255800 C>T	0.0	3881	MELANOMA	-	-	-	-	GSTM5	ENST00000256593,p.P58S|uc001dyn.3,p.P58S|NM_000851,p.P58S	protein_coding, processed_transcript	uc001dyn.3	nonsynonymous SNV	exon3	c.C172T	p.P58S	WLNEKFKLGLDFPNLPYLIDGAHKI	WLNEKFKLGLDFSNLPYLIDGAHKI	2.0	6.0	unscreened	-	3881_1:110255800-110255800 C>T_WLNEKFKLGLDFSNLPYLIDGAHKI
11:62951169-62951169 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC22A25	ENST00000403374,p.M151I|uc001nwt.1,p.M317I|NM_199352,p.M317I|uc001nwr.1,p.M317I|ENST00000306494,p.M317I	protein_coding, nonsense_mediated_decay	uc001nwt.1	nonsynonymous SNV	exon5	c.G951A	p.M317I	RNGMKNAEDILTMEVLKSTMKQELE	RNGMKNAEDILTIEVLKSTMKQELE	1.0	6.0	unscreened	-	3881_11:62951169-62951169 C>T_RNGMKNAEDILTIEVLKSTMKQELE
4:158233999-158233999 G>A	0.0	3881	MELANOMA	-	-	-	-	GRIA2	uc003ipl.4,p.R213K|ENST00000449365,p.R166K|ENST00000323661,p.R166K|uc011cit.2,p.R166K|ENST00000393815,p.R166K|ENST00000296526,p.R213K|ENST00000264426,p.R213K|ENST00000507898,p.R166K|uc021xtr.1,p.R213K|uc003ipm.4,p.R213K|NM_001083620,p.R166K|NM_001083619,p.R213K|NM_000826,p.R213K|uc003ipk.4,p.R166K|ENST00000503437,p.R86K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xtr.1	nonsynonymous SNV	exon4	c.G638A	p.R213K	LKKERRVILDCERDKVNDIVDQVIT	LKKERRVILDCEKDKVNDIVDQVIT	2.0	1.0	unscreened	-	3881_4:158233999-158233999 G>A_LKKERRVILDCEKDKVNDIVDQVIT
16:336925-336925 G>A	0.0	3881	MELANOMA	-	-	-	-	PDIA2	uc002cgn.1,p.E505K|ENST00000219406,p.E505K|ENST00000435833,p.E134K|uc010bqt.1,p.E350K|NM_006849,p.E505K|ENST00000404312,p.E502K|uc002cgo.1,p.E505K	retained_intron, protein_coding, processed_transcript	uc010bqt.1	nonsynonymous SNV	exon9	c.G1048A	p.E350K	NGGVLPTEEPPEEPAAPFPEPPANS	NGGVLPTEEPPEKPAAPFPEPPANS	1.0	1.0	unscreened	-	3881_16:336925-336925 G>A_NGGVLPTEEPPEKPAAPFPEPPANS
4:165962495-165962495 G>A	0.0	3881	MELANOMA	-	-	-	-	TRIM60	uc003iqy.1,p.G424D|NM_152620,p.G424D|uc010iqx.2,p.G424D|ENST00000508504,p.G424D|ENST00000512596,p.G424D|ENST00000341062,p.G424D|uc021xty.1,p.G424D|NM_001258025,p.G424D	protein_coding	uc021xty.1	nonsynonymous SNV	exon1	c.G1271A	p.G424D	PSKIGIFLDYELGDLSFYNMNDRSI	PSKIGIFLDYELDDLSFYNMNDRSI	1.0	1.0	unscreened	-	3881_4:165962495-165962495 G>A_PSKIGIFLDYELDDLSFYNMNDRSI
10:25887968-25887968 G>T	1.0	3881	MELANOMA	-	-	-	-	GPR158	uc001isj.3,p.G1138V|NM_020752,p.G1138V|uc001isk.3,p.G513V|ENST00000376351,p.G1138V	protein_coding, processed_transcript	uc001isk.3	nonsynonymous SNV	exon3	c.G1538T	p.G513V	ASKTENENLNQIGHQEKKTSSSEEN	ASKTENENLNQIVHQEKKTSSSEEN	7.0	10.0	-	-	3881_10:25887968-25887968 G>T_ASKTENENLNQIVHQEKKTSSSEEN
3:186457144-186457144 T>A	0.0	3881	MELANOMA	-	-	-	-	KNG1	uc021xil.1,p.Y320N|NM_001166451,p.Y320N|uc003fqr.3,p.Y356N|ENST00000287611,p.Y356N|NM_001102416,p.Y356N|ENST00000447445,p.Y320N|uc011bsa.2,p.Y356N|NM_000893,p.Y356N|ENST00000265023,p.Y356N	protein_coding	uc021xil.1	nonsynonymous SNV	exon8	c.T958A	p.Y320N	KLGQSLDCNAEVYVVPWEKKIYPTV	KLGQSLDCNAEVNVVPWEKKIYPTV	1.0	9.0	unscreened	-	3881_3:186457144-186457144 T>A_KLGQSLDCNAEVNVVPWEKKIYPTV
19:8808589-8808589 G>A	0.0	3881	MELANOMA	-	-	-	-	ACTL9	ENST00000324436,p.P155S|NM_178525,p.P155S|uc002mkl.2,p.P155S	protein_coding	uc002mkl.2	nonsynonymous SNV	exon1	c.C463T	p.P155S	DHPLLFSDPPFSPATNREKLVEVAF	DHPLLFSDPPFSSATNREKLVEVAF	1.0	5.0	unscreened	-	3881_19:8808589-8808589 G>A_DHPLLFSDPPFSSATNREKLVEVAF
7:44198682-44198682 G>A	0.0	3881	MELANOMA	-	-	-	-	GCK	ENST00000345378,p.A13V|NM_033507,p.A13V|uc003tkk.1,p.A13V	retained_intron, protein_coding, processed_transcript	uc003tkk.1	nonsynonymous SNV	exon1	c.C38T	p.A13V	MAMDVTRSQAQTALTLVEQILAEFQ	MAMDVTRSQAQTVLTLVEQILAEFQ	1.0	3.0	unscreened	-	3881_7:44198682-44198682 G>A_MAMDVTRSQAQTVLTLVEQILAEFQ
17:44060883-44060883 C>T	0.0	3881	MELANOMA	-	-	-	-	MAPT	ENST00000344290,p.S238F|uc021tyx.1,p.S86F|NM_016835,p.S238F|ENST00000415613,p.S238F|uc010dau.3,p.S238F|uc002ijr.4,p.S238F|ENST00000262410,p.S238F|ENST00000571987,p.S238F|NM_001123066,p.S238F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tyx.1	nonsynonymous SNV	exon1	c.C257T	p.S86F	ESSPQDSPPSKASPAQDGRPPQTAA	ESSPQDSPPSKAFPAQDGRPPQTAA	1.0	3.0	unscreened	-	3881_17:44060883-44060883 C>T_ESSPQDSPPSKAFPAQDGRPPQTAA
2:85529691-85529691 C>T	0.0	3881	MELANOMA	-	-	-	-	TCF7L1	uc002soy.3,p.P204S|ENST00000282111,p.P204S|NM_031283,p.P204S	retained_intron, protein_coding, processed_transcript	uc002soy.3	nonsynonymous SNV	exon5	c.C610T	p.P204S	TPLITYSNDHFSPGSPPTHLSPEID	TPLITYSNDHFSSGSPPTHLSPEID	5.0	9.0	unscreened	-	3881_2:85529691-85529691 C>T_TPLITYSNDHFSSGSPPTHLSPEID
6:123673693-123673693 C>T	0.0	3881	MELANOMA	-	-	-	-	TRDN	uc003pzj.2,p.V454M|ENST00000398178,p.V454M|NM_006073,p.V454M|ENST00000334268,p.V454M	protein_coding	uc003pzj.2	nonsynonymous SNV	exon21	c.G1360A	p.V454M	VPGKKEEKTTKTVEQEIRKEKSGKT	VPGKKEEKTTKTMEQEIRKEKSGKT	1.0	10.0	unscreened	-	3881_6:123673693-123673693 C>T_VPGKKEEKTTKTMEQEIRKEKSGKT
X:27998056-27998056 C>T	0.0	3881	MELANOMA	-	-	-	-	DCAF8L1	NM_001017930,p.E466K|uc004dbx.1,p.E466K|ENST00000441525,p.E466K	protein_coding	uc004dbx.1	nonsynonymous SNV	exon1	c.G1396A	p.E466K	VSGSDCGHVFFWEKSSSQIIQFMEG	VSGSDCGHVFFWKKSSSQIIQFMEG	1.0	10.0	unscreened	-	3881_X:27998056-27998056 C>T_VSGSDCGHVFFWKKSSSQIIQFMEG
6:39053691-39053691 G>A	0.0	3881	MELANOMA	-	-	-	-	GLP1R	uc003ooj.4,p.E412K|NM_002062,p.E412K|ENST00000373256,p.E412K	protein_coding	uc003ooj.4	nonsynonymous SNV	exon13	c.G1234A	p.E412K	ILYCFVNNEVQLEFRKSWERWRLEH	ILYCFVNNEVQLKFRKSWERWRLEH	2.0	2.0	unscreened	-	3881_6:39053691-39053691 G>A_ILYCFVNNEVQLKFRKSWERWRLEH
8:110413769-110413769 C>T	0.0	3881	MELANOMA	-	-	-	-	PKHD1L1	ENST00000378402,p.S442F|uc003yne.3,p.S442F|NM_177531,p.S442F	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon14	c.C1325T	p.S442F	IAYHSANANSYFSSPTQRSDDIHLQ	IAYHSANANSYFFSPTQRSDDIHLQ	4.0	7.0	unscreened	-	3881_8:110413769-110413769 C>T_IAYHSANANSYFFSPTQRSDDIHLQ
17:10297727-10297727 C>T	0.0	3881	MELANOMA	-	-	-	-	MYH8	NM_002472,p.D1669N|ENST00000403437,p.D1669N|uc002gmm.2,p.D1669N	protein_coding	uc002gmm.2	nonsynonymous SNV	exon35	c.G5005A	p.D1669N	QLHLDDALRGQEDLKEQLAIVERRA	QLHLDDALRGQENLKEQLAIVERRA	1.0	9.0	unscreened	-	3881_17:10297727-10297727 C>T_QLHLDDALRGQENLKEQLAIVERRA
3:38647489-38647489 C>T	0.0	3881	MELANOMA	-	-	-	-	SCN5A	ENST00000450102,p.E431K|uc021wvr.1,p.E431K|uc021wvo.1,p.E431K|ENST00000451551,p.E431K|NM_198056,p.E431K|uc021wvm.1,p.E431K|uc021wvv.1,p.E431K|ENST00000333535,p.E431K|uc021wvq.1,p.E431K|NM_001099405,p.E431K|uc021wvl.1,p.E431K|ENST00000443581,p.E431K|NM_001099404,p.E431K|ENST00000425664,p.E431K|ENST00000449557,p.E431K|ENST00000414099,p.E431K|uc021wvj.1,p.E297K|NM_001160160,p.E431K|uc021wvu.1,p.E431K|NM_001160161,p.E431K|uc021wvn.1,p.E431K|ENST00000455624,p.E431K|NM_000335,p.E431K|uc021wvt.1,p.E431K|uc021wvw.1,p.E42K|uc021wvi.1,p.E297K|uc021wvs.1,p.E431K|uc021wvp.1,p.E431K|ENST00000413689,p.E431K|ENST00000423572,p.E431K|uc021wvk.1,p.E431K	retained_intron, protein_coding, processed_transcript	uc021wvw.1	nonsynonymous SNV	exon1	c.G124A	p.E42K	QNQATIAETEEKEKRFQEAMEMLKK	QNQATIAETEEKKKRFQEAMEMLKK	1.0	1.0	unscreened	-	3881_3:38647489-38647489 C>T_QNQATIAETEEKKKRFQEAMEMLKK
4:88535277-88535277 G>A	0.0	3881	MELANOMA	0.0005	-	-	-	DSPP	ENST00000399271,p.R488Q|uc003hqu.3,p.R488Q|ENST00000282478,p.R488Q|NM_014208,p.R488Q	protein_coding	uc003hqu.3	nonsynonymous SNV	exon5	c.G1463A	p.R488Q	DANSESDNNSSSRGDASYNSDESKD	DANSESDNNSSSQGDASYNSDESKD	1.0	10.0	unscreened	-	3881_4:88535277-88535277 G>A_DANSESDNNSSSQGDASYNSDESKD
6:74073507-74073507 G>A	0.0	3881	MELANOMA	-	-	-	-	KHDC3L	ENST00000370367,p.R193Q|NM_001017361,p.R193Q|uc003pgt.4,p.R193Q	protein_coding	uc003pgt.4	nonsynonymous SNV	exon3	c.G578A	p.R193Q	QSLQAANKSGTQRSPEAASKAVTQR	QSLQAANKSGTQQSPEAASKAVTQR	1.0	10.0	unscreened	-	3881_6:74073507-74073507 G>A_QSLQAANKSGTQQSPEAASKAVTQR
11:4929154-4929154 G>A	0.0	3881	MELANOMA	-	-	-	-	OR51A7	NM_001004749,p.M185I|uc010qyq.2,p.M185I|ENST00000359350,p.M185I	protein_coding	uc010qyq.2	nonsynonymous SNV	exon1	c.G555A	p.M185I	LLSHSYCLHQDTMKLACSDNKTNVI	LLSHSYCLHQDTIKLACSDNKTNVI	1.0	3.0	unscreened	-	3881_11:4929154-4929154 G>A_LLSHSYCLHQDTIKLACSDNKTNVI
6:76734956-76734956 C>T	0.0	3881	MELANOMA	-	-	-	-	IMPG1	ENST00000369950,p.E173K|NM_001282368,p.E95K|ENST00000369963,p.E95K|uc003pik.1,p.E173K|NM_001563,p.E173K	protein_coding	uc003pik.1	nonsynonymous SNV	exon5	c.G517A	p.E173K	RSFPDRKDEISAEKTLGEPGETIVI	RSFPDRKDEISAKKTLGEPGETIVI	1.0	10.0	unscreened	-	3881_6:76734956-76734956 C>T_RSFPDRKDEISAKKTLGEPGETIVI
19:56321612-56321612 G>A	0.0	3881	MELANOMA	-	-	ID=COSM276344;OCCURENCE=1(ovary),3(large_intestine)	-	NLRP11	ENST00000593244,p.R122C|ENST00000589093,p.R122C|ENST00000590409,p.R23C|uc010ygf.2,p.R122C|uc002qmb.3,p.R23C|uc002qlz.3,p.R23C|ENST00000592953,p.R23C|ENST00000360133,p.R122C|NM_145007,p.R122C|ENST00000443188,p.R122C|NM_001297743,p.R23C|ENST00000589824,p.R122C	protein_coding, nonsense_mediated_decay	uc010ygf.2	nonsynonymous SNV	exon5	c.C364T	p.R122C	SHTFGKFHYKFFRDVSSDVFYILQL	SHTFGKFHYKFFCDVSSDVFYILQL	1.0	8.0	unscreened	-	3881_19:56321612-56321612 G>A_SHTFGKFHYKFFCDVSSDVFYILQL
X:26158027-26158027 G>A	0.0	3881	MELANOMA	-	-	-	-	MAGEB18	uc022bub.1,p.D309N|ENST00000325250,p.D309N|NM_173699,p.D309N|uc004dbq.2,p.D309N	protein_coding	uc022bub.1	nonsynonymous SNV	exon1	c.G925A	p.D309N	SAFPSCYEEALRDEEQRTQARAAAR	SAFPSCYEEALRNEEQRTQARAAAR	1.0	10.0	unscreened	-	3881_X:26158027-26158027 G>A_SAFPSCYEEALRNEEQRTQARAAAR
14:38723936-38723936 G>A	0.0	3881	MELANOMA	-	-	-	-	CLEC14A	uc001wum.2,p.S431F|ENST00000342213,p.S431F|NM_175060,p.S431F	protein_coding	uc001wum.2	nonsynonymous SNV	exon1	c.C1292T	p.S431F	GLVKLCFHESPSSQPRKESMGPPGL	GLVKLCFHESPSFQPRKESMGPPGL	5.0	4.0	unscreened	-	3881_14:38723936-38723936 G>A_GLVKLCFHESPSFQPRKESMGPPGL
8:49985397-49985397 C>T	0.0	3881	MELANOMA	-	-	-	-	C8orf22	ENST00000522267,p.S3F|NM_001256597,p.S3F|ENST00000303202,p.S3F|uc003xqq.5,p.S3F|uc031tbc.1,p.S3F|ENST00000399653,p.S3F|NM_001256596,p.S3F|ENST00000517663,p.S3F|NM_001007176,p.S3F|uc031tba.1,p.S3F|uc031tbb.1,p.S3F|NM_001256598,p.S3F	protein_coding	uc031tbc.1	nonsynonymous SNV	exon2	c.C8T	p.S3F	MASVPSIGCLLARNQ	MAFVPSIGCLLARNQ	1.0	8.0	unscreened	-	3881_8:49985397-49985397 C>T_MAFVPSIGCLLARNQ
12:7894076-7894076 C>T	0.0	3881	MELANOMA	-	-	-	-	CLEC4C	ENST00000542353,p.R59Q|uc001qtg.1,p.R59Q|NM_203503,p.R28Q|uc001qth.1,p.R59Q|ENST00000354629,p.R28Q|ENST00000540085,p.R28Q|uc001qti.1,p.R28Q|ENST00000360345,p.R59Q|NM_130441,p.R59Q	protein_coding	uc001qti.1	nonsynonymous SNV	exon3	c.G83A	p.R28Q	MYSKTVKRLSKLREYQQYHPSLTCV	MYSKTVKRLSKLQEYQQYHPSLTCV	3.0	4.0	unscreened	-	3881_12:7894076-7894076 C>T_MYSKTVKRLSKLQEYQQYHPSLTCV
8:56699087-56699087 G>T	1.0	3881	MELANOMA	-	-	-	-	TGS1	uc003xsj.4,p.L210F|ENST00000260129,p.L210F|NM_024831,p.L210F|uc010lyh.3,p.L114F	retained_intron, protein_coding, nonsense_mediated_decay	uc010lyh.3	nonsynonymous SNV	exon3	c.G342T	p.L114F	WEKYWNEYGGGLLWQSWQEKHPGQA	WEKYWNEYGGGLFWQSWQEKHPGQA	7.0	8.0	unscreened	-	3881_8:56699087-56699087 G>T_WEKYWNEYGGGLFWQSWQEKHPGQA
6:7585527-7585527 G>A	0.0	3881	MELANOMA	-	-	-	-	DSP	NM_004415,p.G2678S|ENST00000418664,p.G2079S|NM_001008844,p.G2079S|uc021yle.1,p.G2235S|uc003mxp.1,p.G2678S|ENST00000379802,p.G2678S|uc003mxq.1,p.G2079S	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon24	c.G6703A	p.G2235S	GQKLSLQDAVSQGVIDQDMATRLKP	GQKLSLQDAVSQSVIDQDMATRLKP	3.0	1.0	unscreened	-	3881_6:7585527-7585527 G>A_GQKLSLQDAVSQSVIDQDMATRLKP
4:42122127-42122127 C>T	0.0	3881	MELANOMA	-	-	-	-	BEND4	ENST00000502486,p.G444E|uc003gwn.3,p.G444E|uc011byy.1,p.G444E|NM_207406,p.G444E	protein_coding	uc011byy.1	nonsynonymous SNV	exon4	c.G1331A	p.G444E	CGLGKRKRSVQSGETGPERRPLDPV	CGLGKRKRSVQSEETGPERRPLDPV	1.0	10.0	unscreened	-	3881_4:42122127-42122127 C>T_CGLGKRKRSVQSEETGPERRPLDPV
6:32032714-32032714 C>T	0.0	3881	MELANOMA	-	-	-	-	TNXB	ENST00000375244,p.G2242E|uc003nzl.2,p.G2242E|ENST00000375247,p.G2242E|NM_019105,p.G2242E	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon19	c.G6725A	p.G2242E	NGDGQPKAVRVPGHEDGVTISGLEP	NGDGQPKAVRVPEHEDGVTISGLEP	5.0	9.0	unscreened	-	3881_6:32032714-32032714 C>T_NGDGQPKAVRVPEHEDGVTISGLEP
19:43969651-43969651 G>A	0.0	3881	MELANOMA	-	-	-	-	LYPD3	NM_014400,p.R25C|uc002owm.3,p.R25C|uc002owl.1,p.R25C|ENST00000244333,p.R25C	retained_intron, protein_coding	uc002owm.3	nonsynonymous SNV	exon1	c.C73T	p.R25C	IWTAGWLLLLLLRGGAQALECYSCV	IWTAGWLLLLLLCGGAQALECYSCV	2.0	4.0	unscreened	-	3881_19:43969651-43969651 G>A_IWTAGWLLLLLLCGGAQALECYSCV
5:1880938-1880938 T>A	0.0	3881	MELANOMA	-	-	-	-	IRX4	ENST00000511126,p.D103V|uc031siq.1,p.D103V|ENST00000513692,p.D103V|uc003jcz.2,p.D103V|ENST00000508261,p.D103V|ENST00000505790,p.D103V|ENST00000231357,p.D103V|uc031sip.1,p.D103V|uc031sio.1,p.D103V|uc031sir.1,p.D103V|NM_001278634,p.D103V|NM_016358,p.D103V|NM_001278632,p.D103V|NM_001278633,p.D103V|NM_001278635,p.D103V	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sir.1	nonsynonymous SNV	exon4	c.A308T	p.D103V	SEASAFYSLNSFDSKDGSGSAHGGL	SEASAFYSLNSFVSKDGSGSAHGGL	1.0	1.0	unscreened	-	3881_5:1880938-1880938 T>A_SEASAFYSLNSFVSKDGSGSAHGGL
22:35785909-35785909 C>T	0.0	3881	MELANOMA	-	-	-	-	HMOX1	ENST00000216117,p.P230L|NM_002133,p.P230L|uc003ant.2,p.P230L	retained_intron, protein_coding	uc003ant.2	nonsynonymous SNV	exon4	c.C689T	p.P230L	QELLTHDTKDQSPSRAPGLRQRASN	QELLTHDTKDQSLSRAPGLRQRASN	8.0	2.0	unscreened	-	3881_22:35785909-35785909 C>T_QELLTHDTKDQSLSRAPGLRQRASN
1:158323824-158323824 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1718360;OCCURENCE=2(NS)	-	CD1E	ENST00000452291,p.E16K|NM_001185113,p.E16K|ENST00000368164,p.E16K|uc001fsc.3,p.E16K|uc010pig.2,p.E16K|uc001fsg.3,p.E16K|uc001fsh.3,p.E16K|NM_001185112,p.E16K|NM_001042587,p.E16K|NM_001042586,p.E16K|uc031pqs.1,p.E16K|uc001fsa.3,p.E16K|ENST00000368154,p.E16K|ENST00000368166,p.E16K|NM_001185110,p.E16K|ENST00000368157,p.E16K	protein_coding, processed_transcript	uc031pqs.1	nonsynonymous SNV	exon1	c.G46A	p.E16K	LFLLFEGLCCPGENTAVKPEAWLSC	LFLLFEGLCCPGKNTAVKPEAWLSC	5.0	1.0	unscreened	-	3881_1:158323824-158323824 G>A_LFLLFEGLCCPGKNTAVKPEAWLSC
10:61833470-61833470 C>T	0.0	3881	MELANOMA	-	-	-	-	ANK3	uc001jky.3,p.G2390D|ENST00000280772,p.G2390D|NM_020987,p.G2390D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.G7169A	p.G2390D	EKHDAFPCSEEQGQQEEEELTAEES	EKHDAFPCSEEQDQQEEEELTAEES	3.0	10.0	unscreened	-	3881_10:61833470-61833470 C>T_EKHDAFPCSEEQDQQEEEELTAEES
6:30131723-30131723 G>A	0.0	3881	MELANOMA	-	-	-	-	TRIM15	NM_033229,p.E88K|uc010jrx.3,p.E88K|ENST00000376694,p.E88K|ENST00000376688,p.E88K	retained_intron, protein_coding, processed_transcript	uc010jrx.3	nonsynonymous SNV	exon1	c.G262A	p.E88K	GPLGETYCEEHGEKIYFFCENDAEF	GPLGETYCEEHGKKIYFFCENDAEF	1.0	1.0	unscreened	-	3881_6:30131723-30131723 G>A_GPLGETYCEEHGKKIYFFCENDAEF
16:74920270-74920270 G>A	1.0	3881	MELANOMA	-	-	-	-	WDR59	uc002fdg.1,p.S407F|NM_030581,p.S815F|ENST00000262144,p.S815F|uc002fdh.1,p.S815F|uc002fdf.1,p.S260F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fdh.1	nonsynonymous SNV	exon24	c.C2444T	p.S815F	GWNIAGREAEHLSSPWGESSPEELR	GWNIAGREAEHLFSPWGESSPEELR	9.0	3.0	unscreened	-	3881_16:74920270-74920270 G>A_GWNIAGREAEHLFSPWGESSPEELR
16:20696671-20696671 C>T	0.0	3881	MELANOMA	-	-	-	-	ACSM1	ENST00000520010,p.E83K|NM_052956,p.E83K|ENST00000519745,p.E83K|uc010bwg.1,p.E83K|uc002dhm.1,p.E83K|ENST00000307493,p.E83K|ENST00000523065,p.E83K	retained_intron, protein_coding, nonsense_mediated_decay	uc010bwg.1	nonsynonymous SNV	exon3	c.G247A	p.E83K	NPAFWWVNGQGDEVKWSFREMGDLT	NPAFWWVNGQGDKVKWSFREMGDLT	1.0	6.0	unscreened	-	3881_16:20696671-20696671 C>T_NPAFWWVNGQGDKVKWSFREMGDLT
9:140919540-140919540 G>A	0.0	3881	MELANOMA	-	-	-	-	CACNA1B	NM_000718,p.G1068S|ENST00000277549,p.G260S|uc031tfz.1,p.G1068S|ENST00000371355,p.G1069S|ENST00000371372,p.G1068S|ENST00000277551,p.G1068S|uc004cog.3,p.G1068S|ENST00000545473,p.G52S|ENST00000371357,p.G1069S|uc004coi.3,p.G278S|ENST00000371367,p.G52S|uc022bqn.1,p.G1068S|uc011mfd.2,p.G669S|ENST00000371363,p.G1068S|uc031tfy.1,p.G1068S|NM_001243812,p.G1068S	protein_coding	uc031tfz.1	nonsynonymous SNV	exon20	c.G3202A	p.G1068S	EDADNQRNVTRMGSQPPDPNTIVHI	EDADNQRNVTRMSSQPPDPNTIVHI	1.0	10.0	unscreened	-	3881_9:140919540-140919540 G>A_EDADNQRNVTRMSSQPPDPNTIVHI
12:82147786-82147786 G>A	0.0	3881	MELANOMA	-	-	-	-	PPFIA2	ENST00000333447,p.S72L|NM_001220474,p.S72L|uc031qin.1,p.S72L|ENST00000551442,p.S72L|uc031qiq.1,p.S72L|ENST00000549325,p.S72L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiq.1	nonsynonymous SNV	exon2	c.C215T	p.S72L	QQRLQDVIYDRDSLQRQLNSALPQE	QQRLQDVIYDRDLLQRQLNSALPQE	3.0	9.0	unscreened	-	3881_12:82147786-82147786 G>A_QQRLQDVIYDRDLLQRQLNSALPQE
11:18267006-18267006 G>A	0.0	3881	MELANOMA	-	-	-	-	SAA2	ENST00000529528,p.A96V|ENST00000526900,p.A96V|ENST00000256733,p.A96V|uc001mnz.4,p.A96V|NM_030754,p.A96V	protein_coding	uc001mnz.4	nonsynonymous SNV	exon4	c.C287T	p.A96V	QRLTGRGAEDSLADQAANKWGRSGR	QRLTGRGAEDSLVDQAANKWGRSGR	3.0	10.0	unscreened	-	3881_11:18267006-18267006 G>A_QRLTGRGAEDSLVDQAANKWGRSGR
12:82147786-82147786 G>A	0.0	3881	MELANOMA	-	-	-	-	PPFIA2	uc031qix.1,p.S72L|ENST00000549396,p.S72L|NM_001220476,p.S72L|uc031qim.1,p.S72L|uc031qiy.1,p.S72L|NM_001220475,p.S72L|uc031qir.1,p.S72L|ENST00000547623,p.S72L|uc031qiw.1,p.S72L|ENST00000548586,p.S72L|uc031qis.1,p.S72L|uc031qio.1,p.S72L|NM_003625,p.S72L|NM_001220473,p.S72L|uc031qip.1,p.S72L|ENST00000552948,p.S72L|ENST00000550584,p.S72L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiy.1	nonsynonymous SNV	exon1	c.C215T	p.S72L	QQRLQDVIYDRDSLQRQLNSALPQD	QQRLQDVIYDRDLLQRQLNSALPQD	3.0	9.0	unscreened	-	3881_12:82147786-82147786 G>A_QQRLQDVIYDRDLLQRQLNSALPQD
4:121958354-121958354 G>A	0.0	3881	MELANOMA	-	-	-	-	NDNF	uc003idq.1,p.P258S|NM_024574,p.P258S|ENST00000379692,p.P258S	protein_coding, processed_transcript	uc003idq.1	nonsynonymous SNV	exon4	c.C772T	p.P258S	DFSPFDFAHFGFPSDNSGKERSFQA	DFSPFDFAHFGFSSDNSGKERSFQA	3.0	10.0	unscreened	-	3881_4:121958354-121958354 G>A_DFSPFDFAHFGFSSDNSGKERSFQA
X:140995273-140995273 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1116283;OCCURENCE=1(endometrium)	-	MAGEC1	ENST00000285879,p.P695S|uc004fbt.3,p.P695S|NM_005462,p.P695S|uc022cfi.1,p.P354S	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.C1060T	p.P354S	PEGEDSLSPLQIPQSPLEGEDSLSS	PEGEDSLSPLQISQSPLEGEDSLSS	3.0	4.0	unscreened	-	3881_X:140995273-140995273 C>T_PEGEDSLSPLQISQSPLEGEDSLSS
10:70333248-70333248 C>T	0.0	3881	MELANOMA	-	-	-	1	TET1	NM_030625,p.H385Y|uc001jok.4,p.H385Y|ENST00000373644,p.H385Y	protein_coding	uc001jok.4	nonsynonymous SNV	exon2	c.C1153T	p.H385Y	PHQWELPGADPVHGEALGETPDLPE	PHQWELPGADPVYGEALGETPDLPE	4.0	2.0	unscreened	-	3881_10:70333248-70333248 C>T_PHQWELPGADPVYGEALGETPDLPE
X:13061298-13061298 G>C	0.0	3881	MELANOMA	-	-	-	-	FAM9C	ENST00000333995,p.T44S|uc004cvh.2,p.T44S|uc004cvg.3,p.T44S|ENST00000380625,p.T44S|ENST00000542843,p.T44S|NM_174901,p.T44S	retained_intron, protein_coding	uc004cvh.2	nonsynonymous SNV	exon3	c.C131G	p.T44S	RKPVTETKEGDVTDEHGERGSFAET	RKPVTETKEGDVSDEHGERGSFAET	3.0	10.0	unscreened	-	3881_X:13061298-13061298 G>C_RKPVTETKEGDVSDEHGERGSFAET
3:164739060-164739060 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1685932;OCCURENCE=1(skin)	-	SI	ENST00000264382,p.P1071S|NM_001041,p.P1071S|uc003fei.3,p.P1071S	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon27	c.C3211T	p.P1071S	EDRLYDVEIKENPFGIQIRRRSSGR	EDRLYDVEIKENSFGIQIRRRSSGR	1.0	1.0	unscreened	-	3881_3:164739060-164739060 G>A_EDRLYDVEIKENSFGIQIRRRSSGR
16:66947467-66947467 G>A	0.0	3881	MELANOMA	-	-	-	-	CDH16	ENST00000299752,p.P277L|ENST00000570262,p.P197L|uc021tjx.1,p.P277L|uc002eqm.3,p.P180L|NM_004062,p.P277L|NM_001204746,p.P180L|NM_001204744,p.P277L|ENST00000568632,p.P180L|ENST00000394055,p.P277L|NM_001204745,p.P277L|uc002eql.3,p.P277L|ENST00000565796,p.P277L|uc010cdy.3,p.P277L	protein_coding, nonsense_mediated_decay	uc021tjx.1	nonsynonymous SNV	exon8	c.C830T	p.P277L	GGDVHYHLESHPPGPFEVNAEGNLY	GGDVHYHLESHPLGPFEVNAEGNLY	1.0	8.0	unscreened	-	3881_16:66947467-66947467 G>A_GGDVHYHLESHPLGPFEVNAEGNLY
5:156746912-156746912 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1238629,COSM1238631,COSM1238630;OCCURENCE=1(oesophagus)	-	CYFIP2	uc011ddn.2,p.R474Q|NM_001291722,p.R500Q|ENST00000347377,p.R500Q|uc003lwt.3,p.R378Q|NM_014376,p.R500Q|ENST00000522463,p.R304Q|ENST00000377576,p.R500Q|ENST00000318218,p.R500Q|uc011ddo.2,p.R304Q|ENST00000541131,p.R425Q|uc011ddp.2,p.R234Q|ENST00000435847,p.R174Q|NM_001037333,p.R500Q|NM_001291721,p.R474Q|ENST00000521420,p.R474Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ddp.2	nonsynonymous SNV	exon7	c.G701A	p.R234Q	QVTLREPLRQAVRKKKNVLISVLQA	QVTLREPLRQAVQKKKNVLISVLQA	6.0	4.0	unscreened	-	3881_5:156746912-156746912 G>A_QVTLREPLRQAVQKKKNVLISVLQA
15:58471487-58471487 G>A	0.0	3881	MELANOMA	-	-	-	-	AQP9	ENST00000536493,p.R219Q|ENST00000558772,p.R154Q|uc002aez.2,p.R219Q|NM_020980,p.R219Q|uc010ugx.1,p.R154Q|ENST00000219919,p.R219Q	protein_coding, processed_transcript	uc010ugx.1	nonsynonymous SNV	exon5	c.G461A	p.R154Q	LGLNSGCAMNPARDLSPRLFTALAG	LGLNSGCAMNPAQDLSPRLFTALAG	4.0	9.0	unscreened	-	3881_15:58471487-58471487 G>A_LGLNSGCAMNPAQDLSPRLFTALAG
X:135618361-135618361 C>T	0.0	3881	MELANOMA	-	-	-	-	VGLL1	ENST00000456412,p.S3L	protein_coding, processed_transcript	ENST00000456412	nonsynonymous SNV	exon1	c.C8T	p.S3L	TPSSQSEGVMLKNDK	TPLSQSEGVMLKNDK	1.0	1.0	unscreened	-	3881_X:135618361-135618361 C>T_TPLSQSEGVMLKNDK
2:179613961-179613961 A>G	0.0	3881	MELANOMA	-	-	ID=COSM170819;OCCURENCE=1(large_intestine)	-	TTN	NM_133379,p.V4389A|uc002unb.3,p.V4389A|ENST00000360870,p.V4389A	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.T13166C	p.V4389A	GTVYPFVDDFSDVTIKKEIRNNFGK	GTVYPFVDDFSDATIKKEIRNNFGK	2.0	9.0	unscreened	-	3881_2:179613961-179613961 A>G_GTVYPFVDDFSDATIKKEIRNNFGK
1:176863825-176863825 C>T	0.0	3881	MELANOMA	-	-	-	-	ASTN1	ENST00000367657,p.R938Q|ENST00000361833,p.R938Q|NM_004319,p.R938Q|ENST00000367654,p.R946Q|NM_207108,p.R938Q|NM_001286164,p.R938Q|uc001glb.1,p.R938Q|uc001glc.3,p.R938Q|uc001gld.1,p.R938Q|ENST00000424564,p.R938Q	protein_coding, processed_transcript	uc001gld.1	nonsynonymous SNV	exon17	c.G2813A	p.R938Q	AAGVRMECHSKGRCPSSCPLCHVTS	AAGVRMECHSKGQCPSSCPLCHVTS	1.0	9.0	unscreened	-	3881_1:176863825-176863825 C>T_AAGVRMECHSKGQCPSSCPLCHVTS
22:50552974-50552974 C>T	0.0	3881	MELANOMA	-	-	ID=COSM257421;OCCURENCE=1(large_intestine)	-	MOV10L1	NM_001164104,p.S350L|uc011arp.2,p.S330L|ENST00000540615,p.S330L|uc003bjk.4,p.S350L|NM_001164105,p.S330L|ENST00000395858,p.S350L|uc011arq.1,p.S111L|ENST00000262794,p.S350L|ENST00000545383,p.S350L|NM_018995,p.S350L|uc003bjj.3,p.S350L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011arq.1	nonsynonymous SNV	exon2	c.C332T	p.S111L	PEKENSSDENINSLNSHTKNKTSQM	PEKENSSDENINLLNSHTKNKTSQM	1.0	9.0	unscreened	-	3881_22:50552974-50552974 C>T_PEKENSSDENINLLNSHTKNKTSQM
2:155566292-155566292 G>A	0.0	3881	MELANOMA	-	-	-	-	KCNJ3	ENST00000295101,p.E294K|NM_001260509,p.E294K|uc021vrh.1,p.E294K|uc002tyv.2,p.E294K|NM_002239,p.E294K	protein_coding, processed_transcript	uc021vrh.1	nonsynonymous SNV	exon2	c.G880A	p.E294K	DLSQRSMQTEQFEIVVILEGIVETT	DLSQRSMQTEQFKIVVILEGIVETT	1.0	2.0	unscreened	-	3881_2:155566292-155566292 G>A_DLSQRSMQTEQFKIVVILEGIVETT
4:40792738-40792738 G>C	0.0	3881	MELANOMA	-	-	-	-	NSUN7	ENST00000381782,p.E386Q|uc003gvj.4,p.E386Q|ENST00000316607,p.E386Q|NM_024677,p.E386Q|uc003gvi.4,p.E386Q	retained_intron, protein_coding, processed_transcript	uc003gvj.4	nonsynonymous SNV	exon8	c.G1156C	p.E386Q	PRCSGLGVSNPVEFILNEHEDTEFL	PRCSGLGVSNPVQFILNEHEDTEFL	3.0	2.0	unscreened	-	3881_4:40792738-40792738 G>C_PRCSGLGVSNPVQFILNEHEDTEFL
5:79030131-79030131 A>G	0.0	3881	MELANOMA	0.0005	-	-	-	CMYA5	ENST00000446378,p.D1848G|uc003kgc.3,p.D1848G|NM_153610,p.D1848G	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.A5543G	p.D1848G	LPDVSTSSEDKQDLGIKQFSLMREN	LPDVSTSSEDKQGLGIKQFSLMREN	3.0	1.0	unscreened	-	3881_5:79030131-79030131 A>G_LPDVSTSSEDKQGLGIKQFSLMREN
10:134598551-134598551 C>T	0.0	3881	MELANOMA	-	-	-	-	NKX6-2	uc001llr.2,p.D235N|NM_177400,p.D235N|ENST00000368592,p.D235N	protein_coding	uc001llr.2	nonsynonymous SNV	exon3	c.G703A	p.D235N	EKLKVGGSDAEDDDEYNRPLDPNSD	EKLKVGGSDAEDNDEYNRPLDPNSD	1.0	10.0	unscreened	-	3881_10:134598551-134598551 C>T_EKLKVGGSDAEDNDEYNRPLDPNSD
1:181702772-181702772 G>A	0.0	3881	MELANOMA	-	-	-	-	CACNA1E	uc009wxt.3,p.E1050K|uc009wxs.3,p.E1031K|NM_001205293,p.E1050K|ENST00000358338,p.E982K|uc001gow.3,p.E1050K|ENST00000367567,p.E657K|ENST00000526775,p.E1031K|ENST00000367570,p.E1050K|ENST00000367573,p.E1050K|ENST00000357570,p.E1001K|uc001gox.1,p.E276K|NM_000721,p.E1050K|ENST00000360108,p.E1031K|NM_001205294,p.E1031K	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon21	c.G3148A	p.E1050K	VQLDMGRVISQSEPDLSCITANTDK	VQLDMGRVISQSKPDLSCITANTDK	2.0	1.0	unscreened	-	3881_1:181702772-181702772 G>A_VQLDMGRVISQSKPDLSCITANTDK
1:183534911-183534911 C>T	0.0	3881	MELANOMA	-	-	-	-	NCF2	NM_001127651,p.E310K|ENST00000418089,p.E229K|NM_000433,p.E310K|uc010poe.2,p.E229K|ENST00000413720,p.E265K|uc001gqj.4,p.E310K|ENST00000419402,p.E49K|ENST00000367536,p.E310K|NM_001190789,p.E229K|NM_001190794,p.E265K|ENST00000367535,p.E310K|uc001gqk.4,p.E310K|uc010pod.2,p.E265K	protein_coding, processed_transcript	uc010poe.2	nonsynonymous SNV	exon8	c.G685A	p.E229K	ELRIHPQQQPQEESSPQSDIPAPPS	ELRIHPQQQPQEKSSPQSDIPAPPS	7.0	9.0	unscreened	-	3881_1:183534911-183534911 C>T_ELRIHPQQQPQEKSSPQSDIPAPPS
21:43541287-43541287 G>A	0.0	3881	MELANOMA	-	-	-	-	UMODL1	NM_001004416,p.G927E|NM_001199527,p.G983E|ENST00000408989,p.G1055E|uc002zag.1,p.G1055E|uc002zae.1,p.G983E|uc002zad.1,p.G855E|NM_173568,p.G1055E|NM_001199528,p.G855E|ENST00000400427,p.G983E|uc002zaf.1,p.G927E|ENST00000408910,p.G927E|ENST00000400424,p.G855E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002zag.1	nonsynonymous SNV	exon15	c.G3164A	p.G1055E	RNTLGSFTCSCEGGAPDFPVEYSER	RNTLGSFTCSCEEGAPDFPVEYSER	1.0	5.0	unscreened	-	3881_21:43541287-43541287 G>A_RNTLGSFTCSCEEGAPDFPVEYSER
2:179634644-179634644 C>T	0.0	3881	MELANOMA	-	-	-	-	TTN	uc031rqc.1,p.M2888I|uc021vtb.2,p.M2842I|NM_001256850,p.M2888I|uc021vsy.2,p.M2888I|ENST00000360870,p.M2888I|NM_133432,p.M2842I|ENST00000589042,p.M2888I|uc002unb.3,p.M2888I|uc021vta.2,p.M2842I|ENST00000591111,p.M2888I|NM_133437,p.M2842I|uc021vsz.2,p.M2842I|uc031rqd.1,p.M2888I|NM_133379,p.M2888I|ENST00000342175,p.M2842I|NM_003319,p.M2842I|ENST00000460472,p.M2842I|NM_001267550,p.M2888I|NM_133378,p.M2888I|ENST00000342992,p.M2888I|ENST00000359218,p.M2842I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon37	c.G8664A	p.M2888I	KLFVETLHITKTMKNIEVPETKTAS	KLFVETLHITKTIKNIEVPETKTAS	2.0	9.0	unscreened	-	3881_2:179634644-179634644 C>T_KLFVETLHITKTIKNIEVPETKTAS
14:31353829-31353829 G>A	1.0	3881	MELANOMA	-	-	-	-	COCH	uc001wqp.2,p.E234K|ENST00000555881,p.E116K|uc001wqq.4,p.E234K|NM_001135058,p.E234K|ENST00000475087,p.E234K|ENST00000396618,p.E234K|ENST00000216361,p.E234K|NM_004086,p.E234K|uc001wqr.2,p.E234K|ENST00000460581,p.E122K	retained_intron, protein_coding, nonsense_mediated_decay	uc001wqr.2	nonsynonymous SNV	exon9	c.G700A	p.E234K	FTSAKDVLFAIKEVGFRGGNSNTGK	FTSAKDVLFAIKKVGFRGGNSNTGK	1.0	5.0	unscreened	-	3881_14:31353829-31353829 G>A_FTSAKDVLFAIKKVGFRGGNSNTGK
18:6889936-6889936 G>A	0.0	3881	MELANOMA	-	-	-	-	ARHGAP28	ENST00000418986,p.R370Q|uc002knf.3,p.R361Q|ENST00000532996,p.R352Q|ENST00000419673,p.R370Q|ENST00000262227,p.R477Q|uc010wzi.2,p.R352Q|uc002knc.3,p.R477Q|ENST00000383472,p.R529Q|uc002kne.3,p.R370Q|ENST00000400091,p.R529Q|NM_001010000,p.R370Q|ENST00000314319,p.R370Q|ENST00000531294,p.R365Q|ENST00000579689,p.R166Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010wzi.2	nonsynonymous SNV	exon12	c.G1055A	p.R352Q	FFNKVIANESKNRMSLWNISTVMAP	FFNKVIANESKNQMSLWNISTVMAP	4.0	3.0	unscreened	-	3881_18:6889936-6889936 G>A_FFNKVIANESKNQMSLWNISTVMAP
11:100211827-100211827 C>T	0.0	3881	MELANOMA	-	-	-	-	CNTN5	ENST00000279463,p.P974S|NM_175566,p.P900S|uc010ruk.2,p.P245S|ENST00000418526,p.P900S|NM_014361,p.P974S|ENST00000524871,p.P974S|uc001pga.3,p.P974S|uc021qpc.1,p.P900S|uc021qpb.1,p.P974S|NM_001243270,p.P974S|ENST00000528682,p.P974S	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon20	c.C2698T	p.P900S	SSEVSATTKKSPPSQAPSNLRWEQQ	SSEVSATTKKSPSSQAPSNLRWEQQ	1.0	7.0	unscreened	-	3881_11:100211827-100211827 C>T_SSEVSATTKKSPSSQAPSNLRWEQQ
8:86356266-86356266 C>T	0.0	3881	MELANOMA	-	-	-	-	CA3	uc003ydj.3,p.H119Y|ENST00000285381,p.H119Y|NM_005181,p.H119Y	retained_intron, protein_coding	uc003ydj.3	nonsynonymous SNV	exon4	c.C355T	p.H119Y	HTVDGVKYAAELHLVHWNPKYNTFK	HTVDGVKYAAELYLVHWNPKYNTFK	3.0	8.0	unscreened	-	3881_8:86356266-86356266 C>T_HTVDGVKYAAELYLVHWNPKYNTFK
2:219296660-219296660 G>A	0.0	3881	MELANOMA	-	-	-	-	VIL1	uc002via.3,p.D395N|uc002vib.3,p.D395N|NM_007127,p.D395N|uc010zke.2,p.D84N|ENST00000248444,p.D395N|ENST00000392114,p.D84N	protein_coding	uc010zke.2	nonsynonymous SNV	exon6	c.G250A	p.D84N	KPQVAAQQKMVDDGSGEVQVWRIEN	KPQVAAQQKMVDNGSGEVQVWRIEN	1.0	1.0	unscreened	-	3881_2:219296660-219296660 G>A_KPQVAAQQKMVDNGSGEVQVWRIEN
10:124353088-124353088 C>T	0.0	3881	MELANOMA	-	-	-	-	DMBT1	ENST00000368909,p.S835F|uc001lgl.1,p.S825F|ENST00000368955,p.S825F|NM_017579,p.S825F|uc021qag.1,p.S825F|ENST00000344338,p.S825F|ENST00000338354,p.S835F|uc001lgk.1,p.S835F|uc009xzz.1,p.S835F|uc021qaf.1,p.S835F|NM_007329,p.S835F	protein_coding	uc021qag.1	nonsynonymous SNV	exon20	c.C2474T	p.S825F	GHHEDAGVICSVSQSRPTPSPDTWP	GHHEDAGVICSVFQSRPTPSPDTWP	1.0	10.0	unscreened	-	3881_10:124353088-124353088 C>T_GHHEDAGVICSVFQSRPTPSPDTWP
10:55913020-55913020 C>T	0.0	3881	MELANOMA	-	-	ID=COSM342759,COSM342760,COSM342758;OCCURENCE=1(lung)	-	PCDH15	ENST00000437009,p.G542R|uc021pqw.1,p.G554R|uc010qhy.1,p.G547R|uc010qhq.2,p.G547R|ENST00000409834,p.G153R|NM_033056,p.G542R|uc021pqv.1,p.G542R|uc001jjw.3,p.G542R|ENST00000448885,p.G542R|uc010qhz.1,p.G542R|ENST00000395438,p.G542R|uc001jju.1,p.G542R|ENST00000395433,p.G520R|NM_001142767,p.G505R|NM_001142768,p.G520R|NM_001142764,p.G542R|ENST00000373957,p.G520R|uc021pqz.1,p.G520R|ENST00000373955,p.G542R|ENST00000395445,p.G549R|uc021pqx.1,p.G542R|ENST00000361849,p.G542R|uc010qht.2,p.G549R|uc010qhx.1,p.G542R|uc010qhv.1,p.G542R|uc010qib.1,p.G520R|NM_001142765,p.G542R|ENST00000414778,p.G547R|ENST00000320301,p.G542R|uc010qia.1,p.G520R|NM_001142766,p.G542R|uc010qhw.1,p.G505R|ENST00000395446,p.G542R|ENST00000395432,p.G505R|NM_001142763,p.G547R|ENST00000395430,p.G542R|NM_001142773,p.G520R|uc021pqy.1,p.G542R|uc001jjv.1,p.G520R|ENST00000373965,p.G549R|uc010qhr.2,p.G542R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon12	c.G1558A	p.G520R	QLTAVDADEGSNGEITYEILVGAQG	QLTAVDADEGSNREITYEILVGAQG	1.0	9.0	unscreened	-	3881_10:55913020-55913020 C>T_QLTAVDADEGSNREITYEILVGAQG
2:166898934-166898934 C>T	0.0	3881	MELANOMA	-	-	-	-	SCN1A	uc021vsb.1,p.G671R|ENST00000375405,p.G671R|NM_006920,p.G671R	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon12	c.G2011A	p.G671R	VPTSPVGQLLPEGTTTETEMRKRRS	VPTSPVGQLLPERTTTETEMRKRRS	1.0	2.0	unscreened	-	3881_2:166898934-166898934 C>T_VPTSPVGQLLPERTTTETEMRKRRS
19:43772179-43772179 G>A	0.0	3881	MELANOMA	-	-	-	-	PSG9	uc002owg.2,p.P63S|uc002owe.4,p.P63S|uc010xwm.2,p.P63S|uc002owd.4,p.P63S|ENST00000596730,p.P63S|ENST00000291752,p.P63S|ENST00000270077,p.P63S|NM_001301707,p.P63S|ENST00000418820,p.P63S|ENST00000244293,p.P63S|NM_002784,p.P63S|NM_001301709,p.P63S|NM_001301708,p.P63S|uc002owf.4,p.P63S|ENST00000593948,p.P63S|ENST00000443718,p.P63S	retained_intron, protein_coding	uc010xwm.2	nonsynonymous SNV	exon2	c.C187T	p.P63S	VLLLVHNLPQNLPGYFWYKGEMTDL	VLLLVHNLPQNLSGYFWYKGEMTDL	2.0	6.0	unscreened	-	3881_19:43772179-43772179 G>A_VLLLVHNLPQNLSGYFWYKGEMTDL
8:55541763-55541763 C>T	0.0	3881	MELANOMA	-	-	-	-	RP1	uc003xsd.1,p.T1774I|ENST00000220676,p.T1774I|NM_006269,p.T1774I	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.C5321T	p.T1774I	GMCGNADTTSVDTLLDNNSSEVPYS	GMCGNADTTSVDILLDNNSSEVPYS	1.0	4.0	unscreened	-	3881_8:55541763-55541763 C>T_GMCGNADTTSVDILLDNNSSEVPYS
4:175899078-175899078 C>T	0.0	3881	MELANOMA	-	-	-	-	ADAM29	uc010irr.3,p.P801L|NM_001130703,p.P801L|uc003iud.3,p.P801L|ENST00000445694,p.P801L|uc011cki.2,p.P801L|NM_014269,p.P801L|uc031shw.1,p.P801L|NM_001130704,p.P801L|uc031shv.1,p.P801L|uc021xuo.1,p.P801L|uc031shu.1,p.P801L|ENST00000359240,p.P801L|NM_001278127,p.P801L|NM_001278125,p.P801L|NM_001278126,p.P801L|NM_001130705,p.P801L|ENST00000514159,p.P801L|ENST00000404450,p.P801L|uc003iuc.3,p.P801L	retained_intron, protein_coding, processed_transcript	uc031shw.1	nonsynonymous SNV	exon2	c.C2402T	p.P801L	QLTPSQSQPPVTPSQRQPQLMPSQS	QLTPSQSQPPVTLSQRQPQLMPSQS	1.0	2.0	unscreened	-	3881_4:175899078-175899078 C>T_QLTPSQSQPPVTLSQRQPQLMPSQS
1:230468757-230468757 C>T	0.0	3881	MELANOMA	-	-	-	-	PGBD5	uc031psq.1,p.R369Q|ENST00000391860,p.R254Q|ENST00000525115,p.R300Q|NM_001258311,p.R369Q|ENST00000321327,p.R399Q	protein_coding, processed_transcript	uc031psq.1	nonsynonymous SNV	exon5	c.G1106A	p.R369Q	KQGIYCCGLLRARKSDCTGLPLSML	KQGIYCCGLLRAQKSDCTGLPLSML	2.0	9.0	unscreened	-	3881_1:230468757-230468757 C>T_KQGIYCCGLLRAQKSDCTGLPLSML
19:31767562-31767562 C>T	0.0	3881	MELANOMA	-	-	ID=COSM439189,COSM439190;OCCURENCE=1(breast)	-	TSHZ3	uc002nsy.4,p.C1046Y|NM_020856,p.C1046Y|ENST00000240587,p.C1046Y	protein_coding, processed_transcript	uc002nsy.4	nonsynonymous SNV	exon2	c.G3137A	p.C1046Y	EEDLGTSYQCKLCNRTFASKHAVKL	EEDLGTSYQCKLYNRTFASKHAVKL	5.0	5.0	unscreened	-	3881_19:31767562-31767562 C>T_EEDLGTSYQCKLYNRTFASKHAVKL
12:55759573-55759573 C>T	0.0	3881	MELANOMA	-	-	-	-	OR6C75	NM_001005497,p.P227S|ENST00000343399,p.P227S|uc010spk.2,p.P227S	protein_coding	uc010spk.2	nonsynonymous SNV	exon1	c.C679T	p.P227S	SYTNIIRTILKIPSMSQRKKAFSTC	SYTNIIRTILKISSMSQRKKAFSTC	1.0	7.0	unscreened	-	3881_12:55759573-55759573 C>T_SYTNIIRTILKISSMSQRKKAFSTC
3:48631916-48631916 G>C	0.0	3881	MELANOMA	-	-	-	-	COL7A1	ENST00000328333,p.R51G|NM_000094,p.R51G|ENST00000454817,p.R51G|uc003ctz.2,p.R51G	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon2	c.C151G	p.R51G	IVFLLDGSSSIGRSNFREVRSFLEG	IVFLLDGSSSIGGSNFREVRSFLEG	5.0	1.0	unscreened	-	3881_3:48631916-48631916 G>C_IVFLLDGSSSIGGSNFREVRSFLEG
1:32676887-32676887 G>A	1.0	3881	MELANOMA	-	-	-	-	DCDC2B	NM_001099434,p.R94K|ENST00000409358,p.R94K|uc001bun.2,p.R94K	retained_intron, protein_coding	uc001bun.2	nonsynonymous SNV	exon2	c.G281A	p.R94K	FERFHKLHYLPHRGKDPGGKSCRLQ	FERFHKLHYLPHKGKDPGGKSCRLQ	1.0	3.0	unscreened	-	3881_1:32676887-32676887 G>A_FERFHKLHYLPHKGKDPGGKSCRLQ
18:44543306-44543306 C>T	0.0	3881	MELANOMA	-	-	-	-	TCEB3CL,TCEB3CL2	NM_001242907,p.E356K|ENST00000591973,p.E356K|uc021ujk.1,p.E356K	protein_coding	uc021ujk.1	nonsynonymous SNV	exon1	c.G1066A	p.E356K	VPRNNPDALGDVEGVPYSALEPVLE	VPRNNPDALGDVKGVPYSALEPVLE	1.0	1.0	unscreened	-	3881_18:44543306-44543306 C>T_VPRNNPDALGDVKGVPYSALEPVLE
4:175649759-175649759 G>A	0.0	3881	MELANOMA	0.0005	-	-	-	GLRA3	NM_006529,p.P120S|ENST00000274093,p.P120S|NM_001042543,p.P120S|uc003ity.1,p.P120S|uc003itz.1,p.P120S|ENST00000340217,p.P120S	protein_coding, processed_transcript	uc003itz.1	nonsynonymous SNV	exon4	c.C358T	p.P120S	YSEYPDDSLDLDPSMLDSIWKPDLF	YSEYPDDSLDLDSSMLDSIWKPDLF	1.0	1.0	unscreened	-	3881_4:175649759-175649759 G>A_YSEYPDDSLDLDSSMLDSIWKPDLF
7:87488036-87488036 G>A	1.0	3881	MELANOMA	-	-	-	-	SLC25A40	NM_018843,p.P3S|uc003uje.3,p.P3S|ENST00000444363,p.P3S|ENST00000341119,p.P3S|ENST00000429674,p.P3S	retained_intron, protein_coding, nonsense_mediated_decay	uc003uje.3	nonsynonymous SNV	exon3	c.C7T	p.P3S	MDPETRGQEIIKVTP	MDSETRGQEIIKVTP	9.0	2.0	unscreened	-	3881_7:87488036-87488036 G>A_MDSETRGQEIIKVTP
12:124317688-124317688 G>A	0.0	3881	MELANOMA	-	-	-	-	DNAH10	ENST00000409039,p.E1407K|NM_207437,p.E1407K|uc001uft.4,p.E1407K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon26	c.G4219A	p.E1407K	IEKAVKEILDTWENMKFTVVKYCKG	IEKAVKEILDTWKNMKFTVVKYCKG	1.0	8.0	unscreened	-	3881_12:124317688-124317688 G>A_IEKAVKEILDTWKNMKFTVVKYCKG
10:115388678-115388678 C>T	0.0	3881	MELANOMA	-	-	-	-	NRAP	uc009xyb.3,p.E26K|ENST00000359988,p.E715K|NM_001261463,p.E715K|ENST00000369360,p.E688K|uc001lak.4,p.E680K|ENST00000369358,p.E723K|uc001laj.4,p.E715K|NM_006175,p.E680K|ENST00000360478,p.E680K|NM_198060,p.E715K|uc001lal.4,p.E715K	protein_coding	uc009xyb.3	nonsynonymous SNV	exon1	c.G76A	p.E26K	LEQAKKAGQLVSEKNYRQRVDELKF	LEQAKKAGQLVSKKNYRQRVDELKF	1.0	1.0	unscreened	-	3881_10:115388678-115388678 C>T_LEQAKKAGQLVSKKNYRQRVDELKF
7:96637126-96637126 G>A	0.0	3881	MELANOMA	-	-	-	-	DLX6	ENST00000007660,p.G177R|uc022ahu.1,p.G205R|NM_005222,p.G205R|ENST00000518156,p.G205R|ENST00000555308,p.G77R	protein_coding, processed_transcript	uc022ahu.1	nonsynonymous SNV	exon2	c.G613A	p.G205R	ALPERAELAASLGLTQTQVKIWFQN	ALPERAELAASLRLTQTQVKIWFQN	1.0	7.0	unscreened	-	3881_7:96637126-96637126 G>A_ALPERAELAASLRLTQTQVKIWFQN
X:71359841-71359841 C>T	0.0	3881	MELANOMA	-	-	-	-	NHSL2	ENST00000535692,p.P449S|ENST00000510661,p.P584S|ENST00000540800,p.P815S|uc011mqa.2,p.P815S|uc010nli.2,p.P584S|ENST00000373677,p.P449S|uc004eak.1,p.P449S|NM_001013627,p.P815S	protein_coding	uc011mqa.2	nonsynonymous SNV	exon6	c.C2443T	p.P815S	TNFGVKLAQKTNPNQPIMPMVTQSD	TNFGVKLAQKTNSNQPIMPMVTQSD	4.0	3.0	unscreened	-	3881_X:71359841-71359841 C>T_TNFGVKLAQKTNSNQPIMPMVTQSD
1:157765956-157765956 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1688817,COSM1688816;OCCURENCE=1(skin)	-	FCRL1	NM_001159398,p.S407F|NM_052938,p.S408F|ENST00000491942,p.S407F|uc001frg.3,p.S408F|ENST00000368176,p.S408F|uc001frh.3,p.S407F	protein_coding, processed_transcript	uc001frh.3	nonsynonymous SNV	exon11	c.C1220T	p.S407F	AETLGTHMEDKVSLDIYSRLRKANI	AETLGTHMEDKVFLDIYSRLRKANI	4.0	3.0	unscreened	-	3881_1:157765956-157765956 G>A_AETLGTHMEDKVFLDIYSRLRKANI
5:34954036-34954036 C>T	0.0	3881	MELANOMA	-	-	-	-	DNAJC21	ENST00000303525,p.P468L|NM_194283,p.P500L|ENST00000382021,p.P500L|uc003jjc.3,p.P455L|uc010iuu.1,p.P352L|uc003jjb.3,p.P500L|ENST00000342382,p.P455L|NM_001012339,p.P455L	retained_intron, protein_coding, processed_transcript	uc010iuu.1	nonsynonymous SNV	exon8	c.C1055T	p.P352L	PCDDPKSEAKSVPKPKGKKTKDMKK	PCDDPKSEAKSVLKPKGKKTKDMKK	9.0	7.0	unscreened	-	3881_5:34954036-34954036 C>T_PCDDPKSEAKSVLKPKGKKTKDMKK
19:44833144-44833144 A>G	1.0	3881	MELANOMA	-	-	-	-	ZNF112	uc010ejj.3,p.V395A|uc010xwy.2,p.V412A|uc002ozc.4,p.V389A|ENST00000354340,p.V389A|ENST00000337401,p.V395A|NM_013380,p.V389A|NM_001083335,p.V395A|ENST00000536500,p.V412A|uc010xwz.2,p.V394A	protein_coding, nonsense_mediated_decay	uc010xwz.2	nonsynonymous SNV	exon5	c.T1181C	p.V394A	RDEPHEYEENENVFNQSSCLQVHQK	RDEPHEYEENENAFNQSSCLQVHQK	6.0	8.0	-	-	3881_19:44833144-44833144 A>G_RDEPHEYEENENAFNQSSCLQVHQK
3:140284935-140284935 G>A	0.0	3881	MELANOMA	-	-	-	-	CLSTN2	uc003etn.3,p.G903E|NM_022131,p.G903E|ENST00000458420,p.G903E	retained_intron, protein_coding	uc003etn.3	nonsynonymous SNV	exon17	c.G2708A	p.G903E	HEGPGHGEDETEGEEEEEAEEEMSS	HEGPGHGEDETEEEEEEEAEEEMSS	2.0	10.0	unscreened	-	3881_3:140284935-140284935 G>A_HEGPGHGEDETEEEEEEEAEEEMSS
6:129591841-129591841 G>A	0.0	3881	MELANOMA	-	-	-	-	LAMA2	uc003qbo.3,p.G799R|NM_000426,p.G799R|ENST00000421865,p.G799R|uc021zfb.1,p.G799R|uc003qbn.3,p.G799R|NM_001079823,p.G799R	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon17	c.G2395A	p.G799R	KCLPGFYGEPTKGTSEDCQPCACPL	KCLPGFYGEPTKRTSEDCQPCACPL	1.0	10.0	unscreened	-	3881_6:129591841-129591841 G>A_KCLPGFYGEPTKRTSEDCQPCACPL
19:57640899-57640899 G>A	0.0	3881	MELANOMA	-	-	-	-	USP29	ENST00000598197,p.G286R|NM_020903,p.G286R|ENST00000254181,p.G286R|uc002qny.3,p.G286R|uc021vci.1,p.G286R	protein_coding	uc021vci.1	nonsynonymous SNV	exon1	c.G856A	p.G286R	VPLDSHSQQLQQGFPNLGNTCYMNA	VPLDSHSQQLQQRFPNLGNTCYMNA	1.0	7.0	unscreened	-	3881_19:57640899-57640899 G>A_VPLDSHSQQLQQRFPNLGNTCYMNA
1:100133313-100133313 G>A	0.0	3881	MELANOMA	-	-	-	-	PALMD	uc001dsg.3,p.S81N|ENST00000605497,p.S81N|NM_017734,p.S81N|ENST00000263174,p.S81N	protein_coding, processed_transcript	uc001dsg.3	nonsynonymous SNV	exon3	c.G242A	p.S81N	QQDQHQIQVLEQSILRLEKEIQDLE	QQDQHQIQVLEQNILRLEKEIQDLE	5.0	5.0	unscreened	-	3881_1:100133313-100133313 G>A_QQDQHQIQVLEQNILRLEKEIQDLE
3:85961546-85961546 G>A	0.0	3881	MELANOMA	-	-	-	-	CADM2	NM_001256503,p.D68N|ENST00000383699,p.D185N|uc021xay.1,p.D68N|NM_001256505,p.D68N|ENST00000405615,p.D178N|uc003dql.3,p.D178N|NM_001256504,p.D68N|NM_001167674,p.D176N|uc003dqj.3,p.D176N|ENST00000407528,p.D176N|uc003dqm.2,p.D68N|uc021xaz.1,p.D68N|NM_001256502,p.D68N|uc021xba.1,p.D68N|uc003dqk.3,p.D185N|NM_001167675,p.D185N|NM_153184,p.D178N	protein_coding, processed_transcript	uc021xba.1	nonsynonymous SNV	exon5	c.G202A	p.D68N	KEIKDVKYLKEEDANRKTFTVSSTL	KEIKDVKYLKEENANRKTFTVSSTL	2.0	1.0	unscreened	-	3881_3:85961546-85961546 G>A_KEIKDVKYLKEENANRKTFTVSSTL
9:105767653-105767653 G>A	0.0	3881	MELANOMA	-	-	-	-	CYLC2	ENST00000487798,p.G247E|NM_001340,p.G247E|ENST00000374798,p.G247E|uc004bbs.2,p.G247E	protein_coding, processed_transcript	uc004bbs.2	nonsynonymous SNV	exon5	c.G740A	p.G247E	QAVKADEKKDEDGKKDANKGDESKD	QAVKADEKKDEDEKKDANKGDESKD	1.0	10.0	unscreened	-	3881_9:105767653-105767653 G>A_QAVKADEKKDEDEKKDANKGDESKD
3:182788859-182788859 G>A	1.0	3881	MELANOMA	-	-	-	-	MCCC1	uc011bqq.1,p.S121L|ENST00000265594,p.S230L|uc003fle.3,p.S230L|ENST00000476176,p.S183L|uc003flf.3,p.S113L|NM_020166,p.S230L|NM_001293273,p.S113L|ENST00000492597,p.S121L|uc003flg.3,p.S121L|ENST00000539926,p.S95L|uc011bqp.1,p.S183L|ENST00000497959,p.S192L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bqq.1	nonsynonymous SNV	exon6	c.C362T	p.S121L	VRSEQEFQEQLESARREAKKSFNDD	VRSEQEFQEQLELARREAKKSFNDD	7.0	9.0	-	-	3881_3:182788859-182788859 G>A_VRSEQEFQEQLELARREAKKSFNDD
18:31251757-31251757 G>A	0.0	3881	MELANOMA	-	-	-	-	ASXL3	ENST00000269197,p.M214I|ENST00000592288,p.M215I|uc010dmg.1,p.M214I|NM_030632,p.M214I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon7	c.G642A	p.M214I	SKNGEADSSDKEMKHGQKSPTGKQT	SKNGEADSSDKEIKHGQKSPTGKQT	1.0	10.0	unscreened	-	3881_18:31251757-31251757 G>A_SKNGEADSSDKEIKHGQKSPTGKQT
1:228559837-228559837 G>A	0.0	3881	MELANOMA	-	-	-	-	OBSCN	uc001hsq.2,p.A8077T|NM_001098623,p.A7120T|ENST00000422127,p.A7120T|uc009xez.2,p.A7120T|ENST00000366707,p.A4754T|NM_001271223,p.A8077T|ENST00000570156,p.A8077T|uc001hsr.1,p.A1749T	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon94	c.G21358A	p.A7120T	RPKPGPCSSPGSASQASSSQVSSLR	RPKPGPCSSPGSTSQASSSQVSSLR	6.0	9.0	unscreened	-	3881_1:228559837-228559837 G>A_RPKPGPCSSPGSTSQASSSQVSSLR
17:79171514-79171514 C>T	1.0	3881	MELANOMA	-	-	-	-	CEP131	ENST00000450824,p.E549K|ENST00000575907,p.E552K|NM_014984,p.E549K|uc002jzp.1,p.E552K|uc002jzn.1,p.E549K|ENST00000374782,p.E549K|uc002jzo.1,p.E549K|ENST00000269392,p.E552K|NM_001009811,p.E549K|uc010wum.1,p.E552K	protein_coding, processed_transcript	uc010wum.1	nonsynonymous SNV	exon13	c.G1654A	p.E552K	EKSGQDQLDSQQEGWVPEAGPGPLE	EKSGQDQLDSQQKGWVPEAGPGPLE	7.0	5.0	unscreened	-	3881_17:79171514-79171514 C>T_EKSGQDQLDSQQKGWVPEAGPGPLE
3:11302062-11302062 G>A	0.0	3881	MELANOMA	-	-	-	-	HRH1	NM_001098213,p.E447K|NM_000861,p.E447K|uc010hdr.3,p.E447K|uc010hdt.3,p.E447K|NM_001098212,p.E447K|ENST00000431010,p.E447K|uc003bwb.4,p.E447K|uc010hds.3,p.E447K|uc021wtb.1,p.E447K|NM_001098211,p.E447K|ENST00000397056,p.E447K|ENST00000438284,p.E447K	protein_coding	uc021wtb.1	nonsynonymous SNV	exon1	c.G1339A	p.E447K	FMVIAFCKNCCNEHLHMFTIWLGYI	FMVIAFCKNCCNKHLHMFTIWLGYI	3.0	9.0	unscreened	-	3881_3:11302062-11302062 G>A_FMVIAFCKNCCNKHLHMFTIWLGYI
3:146173214-146173214 C>T	0.0	3881	MELANOMA	-	-	-	-	PLSCR2	ENST00000336685,p.E45K|ENST00000489015,p.E45K|uc003evw.2,p.E114K|ENST00000497985,p.E118K|NM_001199979,p.E114K|NM_001199978,p.E118K|uc021xfa.1,p.E118K|uc003evv.2,p.E45K|NM_020359,p.E45K	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xfa.1	nonsynonymous SNV	exon6	c.G352A	p.E118K	EVLFSFESSNMYEIKNSFGQRIYFA	EVLFSFESSNMYKIKNSFGQRIYFA	2.0	1.0	unscreened	-	3881_3:146173214-146173214 C>T_EVLFSFESSNMYKIKNSFGQRIYFA
1:156877984-156877984 C>T	0.0	3881	MELANOMA	-	-	-	-	PEAR1	ENST00000292357,p.P323S|ENST00000338302,p.P323S|uc009wsl.1,p.P124S|NM_001080471,p.P323S|uc001fqj.1,p.P323S	retained_intron, protein_coding, nonsense_mediated_decay	uc009wsl.1	nonsynonymous SNV	exon5	c.C370T	p.P124S	FGQDCAETCDCAPDARCFPANGACL	FGQDCAETCDCASDARCFPANGACL	3.0	3.0	unscreened	-	3881_1:156877984-156877984 C>T_FGQDCAETCDCASDARCFPANGACL
20:47630480-47630480 C>T	1.0	3881	MELANOMA	-	-	-	-	ARFGEF2	uc010zyf.2,p.P681S|ENST00000371917,p.P1388S|NM_006420,p.P1388S|uc002xtx.4,p.P1388S	protein_coding, processed_transcript	uc010zyf.2	nonsynonymous SNV	exon16	c.C2041T	p.P681S	RIVFRIFDNMKLPEQLSEKSEWMTT	RIVFRIFDNMKLSEQLSEKSEWMTT	9.0	4.0	unscreened	-	3881_20:47630480-47630480 C>T_RIVFRIFDNMKLSEQLSEKSEWMTT
6:123673693-123673693 C>T	0.0	3881	MELANOMA	-	-	-	-	TRDN	NM_001251987,p.V455M|uc003pzk.2,p.V455M	protein_coding	uc003pzk.2	nonsynonymous SNV	exon21	c.G1363A	p.V455M	VPGKKEEKTTKTVEQGKKK	VPGKKEEKTTKTMEQGKKK	1.0	10.0	unscreened	-	3881_6:123673693-123673693 C>T_VPGKKEEKTTKTMEQGKKK
2:185801193-185801193 G>A	0.0	3881	MELANOMA	-	-	-	-	ZNF804A	NM_194250,p.G357E|uc002uph.3,p.G357E|ENST00000302277,p.G357E	protein_coding	uc002uph.3	nonsynonymous SNV	exon4	c.G1070A	p.G357E	DIPVSGNSFELLGNKSTVLDMSNDC	DIPVSGNSFELLENKSTVLDMSNDC	2.0	1.0	unscreened	-	3881_2:185801193-185801193 G>A_DIPVSGNSFELLENKSTVLDMSNDC
X:83419378-83419378 C>T	0.0	3881	MELANOMA	-	-	-	-	RPS6KA6	ENST00000262752,p.M33I|uc004eej.2,p.M33I|NM_014496,p.M33I	protein_coding, processed_transcript	uc004eej.2	nonsynonymous SNV	exon2	c.G99A	p.M33I	GGASSGEVNGLKMVDEPMEEGEADS	GGASSGEVNGLKIVDEPMEEGEADS	4.0	1.0	unscreened	-	3881_X:83419378-83419378 C>T_GGASSGEVNGLKIVDEPMEEGEADS
4:20599910-20599910 G>A	0.0	3881	MELANOMA	-	-	-	-	SLIT2	uc003gps.1,p.G1187E|NM_001289136,p.G1187E|ENST00000504154,p.G1195E|ENST00000273739,p.G1208E|uc003gpr.1,p.G1195E|ENST00000503823,p.G1187E|NM_004787,p.G1195E|NM_001289135,p.G1191E|ENST00000503837,p.G1191E	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon32	c.G3560A	p.G1187E	NITLQIATDEDSGILLYKGDKDHIA	NITLQIATDEDSEILLYKGDKDHIA	5.0	1.0	unscreened	-	3881_4:20599910-20599910 G>A_NITLQIATDEDSEILLYKGDKDHIA
14:31353829-31353829 G>A	1.0	3881	MELANOMA	-	-	-	-	COCH	uc001wqt.1,p.E41K|ENST00000382493,p.E41K	retained_intron, protein_coding, nonsense_mediated_decay	uc001wqt.1	nonsynonymous SNV	exon3	c.G121A	p.E41K	FTSAKDVLFAIKEVGFRGGNSNTDI	FTSAKDVLFAIKKVGFRGGNSNTDI	1.0	5.0	unscreened	-	3881_14:31353829-31353829 G>A_FTSAKDVLFAIKKVGFRGGNSNTDI
5:13753355-13753355 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1695411;OCCURENCE=1(large_intestine),3(skin)	-	DNAH5	ENST00000265104,p.R3620Q|uc003jfd.2,p.R3620Q|NM_001369,p.R3620Q	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon63	c.G10859A	p.R3620Q	TQGKIWIKNKESRNELQITSLNHKY	TQGKIWIKNKESQNELQITSLNHKY	1.0	9.0	unscreened	-	3881_5:13753355-13753355 C>T_TQGKIWIKNKESQNELQITSLNHKY
6:51935208-51935208 C>T	0.0	3881	MELANOMA	-	-	-	-	PKHD1	uc003pai.3,p.G235R|NM_170724,p.G235R|ENST00000371117,p.G235R|ENST00000340994,p.G235R|uc003pah.1,p.G235R|NM_138694,p.G235R	protein_coding	uc003pai.3	nonsynonymous SNV	exon10	c.G703A	p.G235R	GSQNVSFSVFNKGKSMVHKKAWLIS	GSQNVSFSVFNKRKSMVHKKAWLIS	1.0	3.0	unscreened	-	3881_6:51935208-51935208 C>T_GSQNVSFSVFNKRKSMVHKKAWLIS
13:19753643-19753643 C>T	0.0	3881	MELANOMA	-	-	-	-	TUBA3C	uc009zzj.3,p.E22K|NM_006001,p.E22K|ENST00000400113,p.E22K	protein_coding, processed_transcript	uc009zzj.3	nonsynonymous SNV	exon2	c.G64A	p.E22K	GQAGVQIGNACWELYCLEHGIQPDG	GQAGVQIGNACWKLYCLEHGIQPDG	3.0	5.0	unscreened	-	3881_13:19753643-19753643 C>T_GQAGVQIGNACWKLYCLEHGIQPDG
2:70923466-70923466 C>T	0.0	3881	MELANOMA	-	-	-	-	ADD2	NM_001617,p.G129R|ENST00000456320,p.G129R|ENST00000403045,p.G129R|uc002shc.2,p.G129R|ENST00000407644,p.G129R|uc021vjc.1,p.G129R|ENST00000415348,p.G129R|ENST00000425976,p.G129R|NM_017488,p.G129R|uc002sgz.3,p.G129R|uc010fdt.2,p.G129R|NM_017482,p.G129R|uc010fdu.2,p.G145R|NM_001185054,p.G129R|ENST00000413157,p.G129R|ENST00000430656,p.G145R|ENST00000522886,p.G129R|ENST00000264436,p.G129R|uc002sgy.3,p.G129R|ENST00000355733,p.G129R|NM_001185055,p.G145R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vjc.1	nonsynonymous SNV	exon5	c.G385A	p.G129R	DLHTADSLNLAKGERLMRCKISSVY	DLHTADSLNLAKRERLMRCKISSVY	3.0	2.0	unscreened	-	3881_2:70923466-70923466 C>T_DLHTADSLNLAKRERLMRCKISSVY
11:56128419-56128419 G>A	0.0	3881	MELANOMA	-	-	-	-	OR8J1	NM_001005205,p.G233R|ENST00000303039,p.G233R|uc010rjh.2,p.G233R	protein_coding	uc010rjh.2	nonsynonymous SNV	exon1	c.G697A	p.G233R	IVLSILKICSSEGRKKAFSTCASHM	IVLSILKICSSERRKKAFSTCASHM	1.0	9.0	unscreened	-	3881_11:56128419-56128419 G>A_IVLSILKICSSERRKKAFSTCASHM
10:13275738-13275738 C>T	0.0	3881	MELANOMA	-	-	-	-	UCMA	ENST00000378681,p.E41K|uc001imd.3,p.E41K|NM_145314,p.E41K	protein_coding, processed_transcript	uc001imd.3	nonsynonymous SNV	exon2	c.G121A	p.E41K	VGTMQMAGEEASEDAKQKIFMQESD	VGTMQMAGEEASKDAKQKIFMQESD	1.0	10.0	unscreened	-	3881_10:13275738-13275738 C>T_VGTMQMAGEEASKDAKQKIFMQESD
11:111385558-111385558 G>A	0.0	3881	MELANOMA	-	-	-	-	C11orf88	uc001pln.4,p.E17K|NM_207430,p.E17K|NM_001100388,p.E17K|uc001plo.1,p.E17K|uc009yyd.3,p.E17K|ENST00000529167,p.E17K|ENST00000375618,p.E17K|ENST00000332814,p.E17K	protein_coding, nonsense_mediated_decay	uc009yyd.3	nonsynonymous SNV	exon1	c.G49A	p.E17K	PSEEPSGRKESQEMCPPGLLVFAGS	PSEEPSGRKESQKMCPPGLLVFAGS	1.0	5.0	unscreened	-	3881_11:111385558-111385558 G>A_PSEEPSGRKESQKMCPPGLLVFAGS
19:46733645-46733645 G>A	0.0	3881	MELANOMA	-	-	-	-	IGFL1	uc002pee.3,p.R65K|ENST00000437936,p.R65K|NM_198541,p.R65K	protein_coding	uc002pee.3	nonsynonymous SNV	exon3	c.G194A	p.R65K	HCCYDDAVVPLARTQTCGNCTFRVC	HCCYDDAVVPLAKTQTCGNCTFRVC	1.0	7.0	unscreened	-	3881_19:46733645-46733645 G>A_HCCYDDAVVPLAKTQTCGNCTFRVC
16:76572122-76572122 G>A	0.0	3881	MELANOMA	-	-	-	-	CNTNAP4	ENST00000307431,p.M1034I|uc002fex.1,p.M1038I|ENST00000476707,p.M1038I|uc002fev.1,p.M899I|uc010chb.1,p.M962I|ENST00000377504,p.M986I|ENST00000478060,p.M962I|NM_138994,p.M962I	retained_intron, protein_coding, processed_transcript, TEC	uc010chb.1	nonsynonymous SNV	exon18	c.G2886A	p.M962I	NSSSHAASFHGDMKLSREMIKFSFR	NSSSHAASFHGDIKLSREMIKFSFR	2.0	9.0	unscreened	-	3881_16:76572122-76572122 G>A_NSSSHAASFHGDIKLSREMIKFSFR
11:621239-621239 C>T	1.0	3881	MELANOMA	-	-	-	-	CDHR5	ENST00000526077,p.G184R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000526077	nonsynonymous SNV	exon6	c.G550A	p.G184R	LLVRPSVAGHSGGECGTQP	LLVRPSVAGHSGRECGTQP	2.0	4.0	unscreened	-	3881_11:621239-621239 C>T_LLVRPSVAGHSGRECGTQP
4:101982244-101982244 C>T	0.0	3881	MELANOMA	-	-	-	-	PPP3CA	ENST00000394854,p.G386S|uc010ilk.2,p.G154S|uc003hvu.2,p.G386S|uc003hvt.2,p.G373S|NM_000944,p.G386S|uc010ilj.2,p.G344S|uc003hvs.2,p.G319S|ENST00000512215,p.G154S|ENST00000507176,p.G288S|ENST00000523694,p.G319S|ENST00000394853,p.G386S|NM_001130691,p.G386S|uc011cen.1,p.G386S|ENST00000323055,p.G344S|NM_001130692,p.G344S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cen.1	nonsynonymous SNV	exon10	c.G1156A	p.G386S	DDELGSEEDGFDGATAAARKEVIRN	DDELGSEEDGFDSATAAARKEVIRN	10.0	9.0	unscreened	-	3881_4:101982244-101982244 C>T_DDELGSEEDGFDSATAAARKEVIRN
20:62421408-62421408 G>A	0.0	3881	MELANOMA	-	-	-	-	ZBTB46	NM_025224,p.P235S|uc002ygv.2,p.P235S|ENST00000302995,p.P235S|ENST00000245663,p.P235S|ENST00000395104,p.P235S	protein_coding, processed_transcript	uc002ygv.2	nonsynonymous SNV	exon2	c.C703T	p.P235S	YGPLRIKEEQVSPSQYGGSELPSAK	YGPLRIKEEQVSSSQYGGSELPSAK	4.0	9.0	unscreened	-	3881_20:62421408-62421408 G>A_YGPLRIKEEQVSSSQYGGSELPSAK
1:179660070-179660070 G>A	0.0	3881	MELANOMA	-	-	-	-	TDRD5	NM_173533,p.E980K|uc001gnf.2,p.E980K|ENST00000294848,p.E980K|NM_001199085,p.E1034K|uc010pnp.2,p.E1034K|ENST00000367614,p.E980K|uc021pfn.1,p.E1034K|NM_001199092,p.E535K|NM_001199091,p.E980K|uc001gnh.2,p.E535K|ENST00000444136,p.E1034K|uc021pfm.1,p.E980K|NM_001199089,p.E1034K|ENST00000417329,p.E490K	protein_coding	uc021pfn.1	nonsynonymous SNV	exon18	c.G3100A	p.E1034K	SLLHWYPSVKRMEA	SLLHWYPSVKRMKA	1.0	9.0	unscreened	-	3881_1:179660070-179660070 G>A_SLLHWYPSVKRMKA
17:74134197-74134197 G>A	0.0	3881	MELANOMA	-	-	-	-	FOXJ1	NM_001454,p.S168L|ENST00000322957,p.S168L|uc002jqx.3,p.S168L	protein_coding	uc002jqx.3	nonsynonymous SNV	exon3	c.C503T	p.S168L	CYFRHADPTWQNSIRHNLSLNKCFI	CYFRHADPTWQNLIRHNLSLNKCFI	1.0	4.0	unscreened	-	3881_17:74134197-74134197 G>A_CYFRHADPTWQNLIRHNLSLNKCFI
1:34174702-34174702 C>T	0.0	3881	MELANOMA	-	-	-	-	CSMD2	ENST00000373381,p.G1188E|ENST00000373380,p.G61E|uc001bxn.1,p.G1148E|NM_001281956,p.G1188E|uc001bxo.1,p.G61E|uc001bxm.1,p.G1188E|ENST00000241312,p.G1148E|NM_052896,p.G1148E	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxo.1	nonsynonymous SNV	exon1	c.G182A	p.G61E	IQLKARAFELSEGDVLKVYDGNNNS	IQLKARAFELSEEDVLKVYDGNNNS	3.0	8.0	unscreened	-	3881_1:34174702-34174702 C>T_IQLKARAFELSEEDVLKVYDGNNNS
3:125879750-125879750 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1186385;OCCURENCE=1(lung)	-	ALDH1L1	NM_012190,p.E25K|ENST00000472186,p.E25K|ENST00000393434,p.E25K|uc031sbp.1,p.E35K|uc011bki.2,p.E25K|ENST00000452905,p.E25K|ENST00000460368,p.E25K|ENST00000509952,p.E25K|uc003eim.2,p.E25K|ENST00000490367,p.E25K|ENST00000488356,p.E25K|ENST00000493803,p.E25K|ENST00000473607,p.E25K|ENST00000273450,p.E35K|ENST00000393431,p.E25K|NM_001270365,p.E25K|NM_001270364,p.E35K|ENST00000511283,p.E25K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sbp.1	nonsynonymous SNV	exon2	c.G103A	p.E35K	QEVYCHLRKEGHEVVGVFTVPDKDG	QEVYCHLRKEGHKVVGVFTVPDKDG	3.0	2.0	unscreened	-	3881_3:125879750-125879750 C>T_QEVYCHLRKEGHKVVGVFTVPDKDG
X:83419378-83419378 C>T	0.0	3881	MELANOMA	-	-	-	-	RPS6KA6	ENST00000543399,p.M33I|uc011mqt.2,p.M33I	protein_coding, processed_transcript	uc011mqt.2	nonsynonymous SNV	exon4	c.G99A	p.M33I	EVKRKVKVNGLKMVDEPMEEGEADS	EVKRKVKVNGLKIVDEPMEEGEADS	4.0	1.0	unscreened	-	3881_X:83419378-83419378 C>T_EVKRKVKVNGLKIVDEPMEEGEADS
1:18691999-18691999 C>T	0.0	3881	MELANOMA	-	-	-	-	IGSF21	uc001bav.2,p.P96S|ENST00000251296,p.P275S|uc001bau.2,p.P275S|NM_032880,p.P275S	retained_intron, protein_coding, processed_transcript	uc001bav.2	nonsynonymous SNV	exon2	c.C286T	p.P96S	ENIPETVVSREFPRWVHSAEPTYFL	ENIPETVVSREFSRWVHSAEPTYFL	3.0	4.0	unscreened	-	3881_1:18691999-18691999 C>T_ENIPETVVSREFSRWVHSAEPTYFL
3:38104139-38104139 G>A	0.0	3881	MELANOMA	-	-	-	-	DLEC1	uc010hgw.1,p.R13K|ENST00000452631,p.R314K|ENST00000346219,p.R314K|uc003cho.1,p.R314K|uc003chp.1,p.R314K|NM_007335,p.R314K|ENST00000308059,p.R314K|NM_007337,p.R314K|uc010hgv.1,p.R314K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hgw.1	nonsynonymous SNV	exon1	c.G38A	p.R13K	MNHLRVPQRELDRLLLARMESRNHF	MNHLRVPQRELDKLLLARMESRNHF	3.0	2.0	unscreened	-	3881_3:38104139-38104139 G>A_MNHLRVPQRELDKLLLARMESRNHF
3:151129264-151129264 C>T	0.0	3881	MELANOMA	-	-	-	-	MED12L	NM_053002,p.P2002S|uc003eyp.3,p.P2002S|ENST00000474524,p.P2002S	protein_coding, processed_transcript	uc003eyp.3	nonsynonymous SNV	exon39	c.C6004T	p.P2002S	QQPSGYVQQQASPYLQPLTGSQRLN	QQPSGYVQQQASSYLQPLTGSQRLN	4.0	8.0	unscreened	-	3881_3:151129264-151129264 C>T_QQPSGYVQQQASSYLQPLTGSQRLN
11:51515952-51515952 G>A	0.0	3881	MELANOMA	-	-	-	-	OR4C46	uc010ric.2,p.R224K|ENST00000328188,p.R224K|NM_001004703,p.R224K	protein_coding	uc010ric.2	nonsynonymous SNV	exon1	c.G671A	p.R224K	LLVSYVVILCSLRTHSLEARHKALS	LLVSYVVILCSLKTHSLEARHKALS	1.0	5.0	unscreened	-	3881_11:51515952-51515952 G>A_LLVSYVVILCSLKTHSLEARHKALS
8:53077771-53077771 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1700073;OCCURENCE=1(skin)	-	ST18	uc003xra.2,p.E407K|uc003xrb.2,p.E407K|ENST00000517580,p.E407K|uc011ldr.1,p.E372K|uc011lds.1,p.E312K|NM_014682,p.E407K|ENST00000276480,p.E407K|uc011ldq.1,p.E54K|uc003xqz.2,p.E407K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lds.1	nonsynonymous SNV	exon7	c.G934A	p.E312K	KVRVPLEILAMHENVLKCPTPGCTG	KVRVPLEILAMHKNVLKCPTPGCTG	2.0	7.0	unscreened	-	3881_8:53077771-53077771 C>T_KVRVPLEILAMHKNVLKCPTPGCTG
10:69970204-69970204 G>A	0.0	3881	MELANOMA	-	-	-	-	MYPN	ENST00000358913,p.E1319K|NM_001256268,p.E1025K|NM_001256267,p.E1319K|uc001jno.4,p.E1319K|uc010qit.3,p.E1025K|uc001jnn.5,p.E1044K|ENST00000540630,p.E1319K|uc001jnm.5,p.E1319K|uc009xpt.3,p.E1319K|ENST00000354393,p.E1044K|NM_032578,p.E1319K	protein_coding	uc010qit.3	nonsynonymous SNV	exon24	c.G3073A	p.E1025K	YSCSSRSVVESDEL	YSCSSRSVVESDKL	3.0	1.0	unscreened	-	3881_10:69970204-69970204 G>A_YSCSSRSVVESDKL
X:130219603-130219603 G>A	0.0	3881	MELANOMA	-	-	-	-	ARHGAP36	uc004evz.3,p.V333I|ENST00000370921,p.V197I|ENST00000412432,p.V302I|ENST00000370922,p.V321I|uc004ewc.3,p.V197I|ENST00000276211,p.V333I|uc004ewb.3,p.V302I|uc004ewa.3,p.V321I|NM_001282607,p.V321I|NM_144967,p.V333I	protein_coding	uc004ewc.3	nonsynonymous SNV	exon5	c.G589A	p.V197I	KPQDQLSALQLLVYLMPPCHSDTLE	KPQDQLSALQLLIYLMPPCHSDTLE	1.0	7.0	unscreened	-	3881_X:130219603-130219603 G>A_KPQDQLSALQLLIYLMPPCHSDTLE
8:3265475-3265475 C>T	0.0	3881	MELANOMA	-	-	-	-	CSMD1	NM_033225,p.E673K|ENST00000537824,p.E673K|uc011kwj.2,p.E66K|ENST00000400186,p.E674K|ENST00000602557,p.E674K|ENST00000539096,p.E673K|ENST00000542608,p.E673K|ENST00000520002,p.E674K|ENST00000602723,p.E674K|uc022aqr.1,p.E673K	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon14	c.G2017A	p.E673K	SQLASSGHIVRLEFQSDHSTTGRGF	SQLASSGHIVRLKFQSDHSTTGRGF	7.0	3.0	unscreened	-	3881_8:3265475-3265475 C>T_SQLASSGHIVRLKFQSDHSTTGRGF
19:3728434-3728434 G>A	0.0	3881	MELANOMA	-	-	-	-	TJP3	uc010xhu.3,p.E11K|NM_001267561,p.E11K|ENST00000589378,p.E11K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xhu.3	nonsynonymous SNV	exon2	c.G31A	p.E11K	MAVRFQVADMEELTIWEQHTATL	MAVRFQVADMKELTIWEQHTATL	1.0	8.0	unscreened	-	3881_19:3728434-3728434 G>A_MAVRFQVADMKELTIWEQHTATL
4:138442311-138442311 C>T	1.0	3881	MELANOMA	-	-	ID=COSM1695013;OCCURENCE=1(skin)	-	PCDH18	uc003ihf.4,p.E1086K|ENST00000412923,p.E1093K|uc003ihe.4,p.E1094K|NM_019035,p.E1094K|uc011cgz.2,p.E305K|uc003ihg.4,p.E873K|ENST00000511115,p.E274K|ENST00000510305,p.E305K|NM_001300828,p.E1093K|ENST00000344876,p.E1094K|ENST00000507846,p.E873K|uc011cha.2,p.E274K	protein_coding	uc011cha.2	nonsynonymous SNV	exon4	c.G820A	p.E274K	SSKWLPAMEEIPENYEEDDFDNVLN	SSKWLPAMEEIPKNYEEDDFDNVLN	6.0	2.0	unscreened	-	3881_4:138442311-138442311 C>T_SSKWLPAMEEIPKNYEEDDFDNVLN
16:815734-815734 C>T	0.0	3881	MELANOMA	-	-	-	-	MSLN	NM_013404,p.S280F|uc002cjw.2,p.S280F|uc002cjt.1,p.S280F|ENST00000545450,p.S280F|ENST00000382862,p.S280F|uc002cju.1,p.S280F|NM_001177355,p.S280F|ENST00000563651,p.S223F|NM_005823,p.S280F|ENST00000563941,p.S280F|uc010brd.1,p.S279F|ENST00000566549,p.S280F	protein_coding	uc010brd.1	nonsynonymous SNV	exon10	c.C836T	p.S279F	VAAWRQRSSRDPSWRQPERTILRPR	VAAWRQRSSRDPFWRQPERTILRPR	1.0	2.0	unscreened	-	3881_16:815734-815734 C>T_VAAWRQRSSRDPFWRQPERTILRPR
X:105280985-105280985 G>A	0.0	3881	MELANOMA	-	-	-	-	SERPINA7	ENST00000372563,p.S22L|uc010npe.2,p.S22L|uc004eme.2,p.S22L|uc010npd.3,p.S22L|ENST00000327674,p.S22L|NM_000354,p.S22L	protein_coding, processed_transcript	uc010npe.2	nonsynonymous SNV	exon2	c.C65T	p.S22L	LVLGLHATIHCASPEGKVTACHSSQ	LVLGLHATIHCALPEGKVTACHSSQ	1.0	3.0	unscreened	-	3881_X:105280985-105280985 G>A_LVLGLHATIHCALPEGKVTACHSSQ
1:207110656-207110656 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1689750;OCCURENCE=1(skin)	-	PIGR	uc001hez.3,p.E277K|ENST00000356495,p.E277K|NM_002644,p.E277K|uc009xbz.3,p.E277K	protein_coding, processed_transcript	uc009xbz.3	nonsynonymous SNV	exon5	c.G829A	p.E277K	NVAKFLCRQSSGENCDVVVNTLGKR	NVAKFLCRQSSGKNCDVVVNTLGKR	1.0	1.0	unscreened	-	3881_1:207110656-207110656 C>T_NVAKFLCRQSSGKNCDVVVNTLGKR
2:50464054-50464054 G>A	0.0	3881	MELANOMA	-	-	-	-	NRXN1	ENST00000406316,p.P1140L|NM_001135659,p.P1180L|ENST00000342183,p.P105L|ENST00000401669,p.P1140L|NM_004801,p.P1140L|ENST00000405472,p.P1132L|uc010fbp.3,p.P105L|uc002rxb.4,p.P812L|ENST00000406859,p.P1140L|uc021vhh.1,p.P1140L|ENST00000402717,p.P1132L|NM_138735,p.P105L|ENST00000404971,p.P1180L|ENST00000401710,p.P158L|uc021vhg.1,p.P1180L	retained_intron, protein_coding, processed_transcript	uc021vhh.1	nonsynonymous SNV	exon17	c.C3419T	p.P1140L	FSKGGGQITYKWPPNDRPSTRADRL	FSKGGGQITYKWLPNDRPSTRADRL	1.0	9.0	unscreened	-	3881_2:50464054-50464054 G>A_FSKGGGQITYKWLPNDRPSTRADRL
4:120190974-120190974 G>A	1.0	3881	MELANOMA	-	-	-	-	USP53	uc003icu.4,p.D96N|uc003ict.3,p.D96N|ENST00000274030,p.D473N|uc003ics.4,p.D473N|ENST00000450251,p.D473N|uc003icr.4,p.D473N|NM_019050,p.D473N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003icu.4	nonsynonymous SNV	exon12	c.G286A	p.D96N	SQRKDLEKGQRKDLGRHRDLVDEDL	SQRKDLEKGQRKNLGRHRDLVDEDL	7.0	3.0	unscreened	-	3881_4:120190974-120190974 G>A_SQRKDLEKGQRKNLGRHRDLVDEDL
12:130935868-130935868 C>T	0.0	3881	MELANOMA	-	-	-	-	RIMBP2	uc001uim.3,p.G17R|ENST00000535703,p.G17R|ENST00000536002,p.G17R|ENST00000261655,p.G109R|uc001uil.2,p.G109R|NM_015347,p.G109R	retained_intron, protein_coding, nonsense_mediated_decay	uc001uim.3	nonsynonymous SNV	exon9	c.G49A	p.G17R	ATSLGKGQESAIGGSSAIGEYIRPL	ATSLGKGQESAIRGSSAIGEYIRPL	1.0	3.0	unscreened	-	3881_12:130935868-130935868 C>T_ATSLGKGQESAIRGSSAIGEYIRPL
13:50062599-50062599 C>T	1.0	3881	MELANOMA	-	-	-	-	SETDB2	NM_031915,p.P596S|NM_001160308,p.P584S|ENST00000317257,p.P596S|uc001vda.3,p.P584S|uc001vcz.3,p.P596S|ENST00000354234,p.P584S	protein_coding, processed_transcript	uc001vda.3	nonsynonymous SNV	exon11	c.C1750T	p.P584S	NIKKAIEVQIQKPQEGRSTACQRQQ	NIKKAIEVQIQKSQEGRSTACQRQQ	8.0	7.0	unscreened	-	3881_13:50062599-50062599 C>T_NIKKAIEVQIQKSQEGRSTACQRQQ
10:51480515-51480515 C>T	0.0	3881	MELANOMA	-	-	-	-	AGAP7P	uc001jio.4,p.R102K|ENST00000374095,p.R102K|NM_001077685,p.R102K	protein_coding	uc001jio.4	nonsynonymous SNV	exon3	c.G305A	p.R102K	FQRNSQTDVVEIRRSNCTNHVSTVH	FQRNSQTDVVEIKRSNCTNHVSTVH	4.0	7.0	unscreened	-	3881_10:51480515-51480515 C>T_FQRNSQTDVVEIKRSNCTNHVSTVH
7:73245885-73245885 G>A	0.0	3881	MELANOMA	-	-	-	-	CLDN4	ENST00000435050,p.M118I|uc003tzi.4,p.M118I|ENST00000340958,p.M118I|ENST00000431918,p.M118I|NM_001305,p.M118I	protein_coding, processed_transcript	uc003tzi.4	nonsynonymous SNV	exon1	c.G354A	p.M118I	NCLEDESAKAKTMIVAGVVFLLAGL	NCLEDESAKAKTIIVAGVVFLLAGL	3.0	4.0	unscreened	-	3881_7:73245885-73245885 G>A_NCLEDESAKAKTIIVAGVVFLLAGL
19:2987209-2987209 G>A	0.0	3881	MELANOMA	-	-	-	-	TLE6	ENST00000452088,p.D49N|NM_001143986,p.D172N|uc002lwu.2,p.D49N|uc002lwt.2,p.D172N|ENST00000246112,p.D172N|NM_024760,p.D49N	retained_intron, protein_coding, processed_transcript	uc002lwu.2	nonsynonymous SNV	exon6	c.G145A	p.D49N	TEQLWRIFAGVHDEKAKPRDRQQAP	TEQLWRIFAGVHNEKAKPRDRQQAP	5.0	4.0	unscreened	-	3881_19:2987209-2987209 G>A_TEQLWRIFAGVHNEKAKPRDRQQAP
1:160171149-160171149 G>A	0.0	3881	MELANOMA	-	-	-	-	CASQ1	NM_001231,p.D392N|ENST00000368079,p.D386N|uc010pja.2,p.D392N|ENST00000467691,p.D113N|ENST00000368078,p.D392N	retained_intron, protein_coding	uc010pja.2	nonsynonymous SNV	exon11	c.G1174A	p.D392N	VLEGEINTEDDDDDDDD	VLEGEINTEDDDNDDDD	1.0	10.0	unscreened	-	3881_1:160171149-160171149 G>A_VLEGEINTEDDDNDDDD
12:55615511-55615511 C>A	0.0	3881	MELANOMA	-	-	-	-	OR10A7	NM_001005280,p.Q235K|ENST00000326258,p.Q235K|uc010spf.2,p.Q235K	protein_coding	uc010spf.2	nonsynonymous SNV	exon1	c.C703A	p.Q235K	ITILRMSSATGRQKAFSTCSSHLIV	ITILRMSSATGRKKAFSTCSSHLIV	1.0	2.0	unscreened	-	3881_12:55615511-55615511 C>A_ITILRMSSATGRKKAFSTCSSHLIV
1:158323824-158323824 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1718360;OCCURENCE=2(NS)	-	CD1E	uc010pie.2,p.E16K|NM_001185114,p.E16K|uc009wsv.3,p.E16K|ENST00000444681,p.E16K	protein_coding, processed_transcript	uc010pie.2	nonsynonymous SNV	exon1	c.G46A	p.E16K	LFLLFEGLCCPGENTADPFEIQILA	LFLLFEGLCCPGKNTADPFEIQILA	5.0	1.0	unscreened	-	3881_1:158323824-158323824 G>A_LFLLFEGLCCPGKNTADPFEIQILA
11:100962554-100962554 G>A	0.0	3881	MELANOMA	-	-	-	-	PGR	ENST00000526300,p.R615C|ENST00000534780,p.R615C|uc001pgh.2,p.R615C|NM_001271161,p.R451C|NM_001202474,p.R451C|uc001pgi.3,p.R451C|NM_000926,p.R615C|NM_001271162,p.R21C|ENST00000534013,p.R21C|uc031qdi.1,p.R21C|ENST00000263463,p.R615C|ENST00000325455,p.R615C	retained_intron, protein_coding, nonsense_mediated_decay	uc031qdi.1	nonsynonymous SNV	exon3	c.C61T	p.R21C	CAGRNDCIVDKIRRKNCPACRLRKC	CAGRNDCIVDKICRKNCPACRLRKC	1.0	2.0	unscreened	-	3881_11:100962554-100962554 G>A_CAGRNDCIVDKICRKNCPACRLRKC
10:133978225-133978225 G>A	0.0	3881	MELANOMA	-	-	-	-	JAKMIP3	uc009yba.1,p.E261K	protein_coding, processed_transcript	uc009yba.1	nonsynonymous SNV	exon11	c.G781A	p.E261K	EERIEAQKRQIKELEEKLSFSGHSP	EERIEAQKRQIKKLEEKLSFSGHSP	1.0	1.0	unscreened	-	3881_10:133978225-133978225 G>A_EERIEAQKRQIKKLEEKLSFSGHSP
3:38156482-38156482 C>T	0.0	3881	MELANOMA	-	-	-	-	DLEC1	ENST00000346219,p.T1265I|ENST00000452631,p.T1268I|uc003chp.1,p.T1265I|uc003cho.1,p.T1265I|ENST00000308059,p.T1265I|NM_007335,p.T1265I|uc010hgv.1,p.T1268I|NM_007337,p.T1265I|uc003chr.1,p.T336I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hgv.1	nonsynonymous SNV	exon27	c.C3803T	p.T1268I	DQAQKEPAMRFGTQVSGGDTVTRTL	DQAQKEPAMRFGIQVSGGDTVTRTL	3.0	2.0	unscreened	-	3881_3:38156482-38156482 C>T_DQAQKEPAMRFGIQVSGGDTVTRTL
8:105160846-105160846 C>T	0.0	3881	MELANOMA	-	-	-	-	RIMS2	uc003ylw.2,p.S1042F|ENST00000408894,p.S1042F	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon22	c.C3125T	p.S1042F	RPGGNKKISVFTSKMQSRQMGISGK	RPGGNKKISVFTFKMQSRQMGISGK	3.0	7.0	unscreened	-	3881_8:105160846-105160846 C>T_RPGGNKKISVFTFKMQSRQMGISGK
6:7585335-7585335 G>A	0.0	3881	MELANOMA	-	-	-	-	DSP	uc021yle.1,p.E2171K|uc003mxp.1,p.E2614K|ENST00000379802,p.E2614K|NM_001008844,p.E2015K|ENST00000418664,p.E2015K|NM_004415,p.E2614K|uc003mxq.1,p.E2015K	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon24	c.G6511A	p.E2171K	LTIRSSSFSDTLEESSPIAAIFDTE	LTIRSSSFSDTLKESSPIAAIFDTE	3.0	1.0	unscreened	-	3881_6:7585335-7585335 G>A_LTIRSSSFSDTLKESSPIAAIFDTE
8:70536239-70536239 G>A	0.0	3881	MELANOMA	-	-	-	-	SULF1	ENST00000402687,p.E553K|ENST00000419716,p.E553K|uc010lza.1,p.E553K|uc003xye.2,p.E553K|uc003xyg.2,p.E553K|NM_001128206,p.E553K|ENST00000260128,p.E553K|NM_001128204,p.E553K|NM_001128205,p.E553K|NM_015170,p.E553K|uc003xyf.2,p.E553K|uc003xyd.2,p.E553K|ENST00000458141,p.E553K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lza.1	nonsynonymous SNV	exon15	c.G1657A	p.E553K	RQTRSLSVEFEGEIYDINLEEEEEL	RQTRSLSVEFEGKIYDINLEEEEEL	9.0	6.0	unscreened	-	3881_8:70536239-70536239 G>A_RQTRSLSVEFEGKIYDINLEEEEEL
21:45959325-45959325 G>A	0.0	3881	MELANOMA	-	-	-	-	KRTAP10-1	NM_198691,p.R237C|uc002zfh.1,p.R237C|ENST00000400375,p.R237C	protein_coding	uc002zfh.1	nonsynonymous SNV	exon1	c.C709T	p.R237C	CCRPSSSVSLLCRPVCRPACCMPVS	CCRPSSSVSLLCCPVCRPACCMPVS	1.0	7.0	unscreened	-	3881_21:45959325-45959325 G>A_CCRPSSSVSLLCCPVCRPACCMPVS
1:150255916-150255916 C>T	0.0	3881	MELANOMA	-	-	-	-	CIART	uc001euj.3,p.P80L|ENST00000290363,p.P80L|uc001euh.3,p.P80L|NM_001300838,p.P80L|ENST00000369095,p.P80L|NM_144697,p.P80L	protein_coding, processed_transcript	uc001euj.3	nonsynonymous SNV	exon1	c.C239T	p.P80L	SKVSGNQHTPSHPKQRGSASPMAGS	SKVSGNQHTPSHLKQRGSASPMAGS	3.0	1.0	unscreened	-	3881_1:150255916-150255916 C>T_SKVSGNQHTPSHLKQRGSASPMAGS
3:168833477-168833477 C>T	0.0	3881	MELANOMA	-	-	-	1	MECOM	uc011bpj.1,p.G728D|NM_001205194,p.G540D|ENST00000392736,p.G540D|ENST00000264674,p.G605D|ENST00000464456,p.G540D|uc003ffl.2,p.G700D|NM_001105077,p.G605D|ENST00000468789,p.G540D|uc011bpk.1,p.G540D|NM_001164000,p.G540D|ENST00000433243,p.G541D|uc003ffj.3,p.G605D|uc003ffi.3,p.G540D|ENST00000460814,p.G540D|uc011bpi.1,p.G541D|uc003ffk.2,p.G540D|ENST00000492586,p.G191D|NM_001105078,p.G540D|uc003ffn.3,p.G540D|uc010hwk.1,p.G563D|NM_004991,p.G728D|uc010hwn.2,p.G728D|ENST00000494292,p.G728D|NM_005241,p.G540D|NM_001163999,p.G541D|ENST00000472280,p.G541D	retained_intron, protein_coding, processed_transcript	uc011bpk.1	nonsynonymous SNV	exon7	c.G1619A	p.G540D	RSLPLKMEPQSPGEVKKLQKGSSES	RSLPLKMEPQSPDEVKKLQKGSSES	4.0	1.0	unscreened	-	3881_3:168833477-168833477 C>T_RSLPLKMEPQSPDEVKKLQKGSSES
6:30919837-30919837 G>A	0.0	3881	MELANOMA	-	-	-	-	DPCR1	ENST00000462446,p.G1199E|uc003nsg.2,p.G1199E|NM_080870,p.G1199E|ENST00000304311,p.G41E	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.G3596A	p.G1199E	PTLYSEKTICTKGKNTPVPEKPTEN	PTLYSEKTICTKEKNTPVPEKPTEN	1.0	1.0	unscreened	-	3881_6:30919837-30919837 G>A_PTLYSEKTICTKEKNTPVPEKPTEN
11:124756952-124756952 C>T	0.0	3881	MELANOMA	-	-	-	-	ROBO4	uc001qbi.3,p.G344R|NM_001301088,p.G641R|uc001qbh.2,p.G676R|ENST00000533054,p.G641R|ENST00000306534,p.G786R|uc010sas.2,p.G641R|uc001qbg.3,p.G786R|NM_019055,p.G786R	retained_intron, protein_coding, processed_transcript	uc010sas.2	nonsynonymous SNV	exon15	c.G1921A	p.G641R	SSRLSSSSLSSLGEDQDSVLTPEEV	SSRLSSSSLSSLREDQDSVLTPEEV	5.0	5.0	unscreened	-	3881_11:124756952-124756952 C>T_SSRLSSSSLSSLREDQDSVLTPEEV
17:9792831-9792831 C>T	0.0	3881	MELANOMA	-	-	-	-	GLP2R	uc002gmd.1,p.R491W|ENST00000574745,p.R311W|ENST00000262441,p.R491W|NM_004246,p.R491W	protein_coding, nonsense_mediated_decay	uc002gmd.1	nonsynonymous SNV	exon13	c.C1471T	p.R491W	KKLSEGDGAEKLRKLQPSLNSGRLL	KKLSEGDGAEKLWKLQPSLNSGRLL	1.0	3.0	unscreened	-	3881_17:9792831-9792831 C>T_KKLSEGDGAEKLWKLQPSLNSGRLL
12:123472173-123472173 C>T	0.0	3881	MELANOMA	-	-	-	-	PITPNM2	ENST00000320201,p.G1050S|NM_020845,p.G1050S|uc001uek.1,p.G1044S|ENST00000280562,p.G1044S|NM_001300801,p.G1044S|ENST00000392428,p.G771S|ENST00000542749,p.G1050S|uc001uej.1,p.G1050S	retained_intron, protein_coding, processed_transcript	uc001uek.1	nonsynonymous SNV	exon22	c.G3130A	p.G1044S	KVDVHIMTQPPSGEWLYLDTLVTNN	KVDVHIMTQPPSSEWLYLDTLVTNN	4.0	8.0	unscreened	-	3881_12:123472173-123472173 C>T_KVDVHIMTQPPSSEWLYLDTLVTNN
10:90583037-90583037 C>A	0.0	3881	MELANOMA	-	-	-	-	ANKRD22	ENST00000371930,p.K166N|NM_144590,p.K166N|uc001kfj.4,p.K166N	protein_coding, processed_transcript	uc001kfj.4	nonsynonymous SNV	exon5	c.G498T	p.K166N	LLEARADPTIKNKHGESSLDIARRL	LLEARADPTIKNNHGESSLDIARRL	6.0	2.0	unscreened	-	3881_10:90583037-90583037 C>A_LLEARADPTIKNNHGESSLDIARRL
7:47969095-47969095 G>A	0.0	3881	MELANOMA	-	-	-	-	PKD1L1	ENST00000289672,p.R256C|NM_138295,p.R256C|uc003tny.2,p.R256C	retained_intron, protein_coding, processed_transcript	uc003tny.2	nonsynonymous SNV	exon7	c.C766T	p.R256C	PRSSHGLPPGIPRTPSFTASQSGSE	PRSSHGLPPGIPCTPSFTASQSGSE	2.0	8.0	unscreened	-	3881_7:47969095-47969095 G>A_PRSSHGLPPGIPCTPSFTASQSGSE
9:35618116-35618116 G>A	1.0	3881	MELANOMA	-	-	-	-	CD72	uc010mku.2,p.P29S|ENST00000396757,p.P29S|NM_001782,p.P29S|ENST00000259633,p.P29S|uc003zxb.2,p.P29S|ENST00000378431,p.P29S|ENST00000378430,p.P29S|uc010mkv.2,p.P29S	protein_coding, processed_transcript	uc010mkv.2	nonsynonymous SNV	exon2	c.C85T	p.P29S	LKKSISSRLGQDPGADDDGEITYEN	LKKSISSRLGQDSGADDDGEITYEN	6.0	9.0	-	-	3881_9:35618116-35618116 G>A_LKKSISSRLGQDSGADDDGEITYEN
7:100238779-100238779 C>T	0.0	3881	MELANOMA	-	-	-	-	TFR2	uc003uvv.1,p.E36K|ENST00000462107,p.E36K|uc003uvw.1,p.E36K|ENST00000223051,p.E36K|NM_003227,p.E36K|ENST00000431692,p.E36K	retained_intron, protein_coding, nonsense_mediated_decay	uc003uvw.1	nonsynonymous SNV	exon3	c.G106A	p.E36K	QRVEGPRKGHLEEEEEDGEEGAETL	QRVEGPRKGHLEKEEEDGEEGAETL	4.0	1.0	unscreened	-	3881_7:100238779-100238779 C>T_QRVEGPRKGHLEKEEEDGEEGAETL
16:20384138-20384138 C>T	0.0	3881	MELANOMA	-	-	-	-	PDILT	ENST00000302451,p.E302K|uc002dhc.1,p.E302K|NM_174924,p.E302K	protein_coding	uc002dhc.1	nonsynonymous SNV	exon7	c.G904A	p.E302K	GIIIQHYKLASKEFQNKILFILVDA	GIIIQHYKLASKKFQNKILFILVDA	1.0	2.0	unscreened	-	3881_16:20384138-20384138 C>T_GIIIQHYKLASKKFQNKILFILVDA
19:11510616-11510616 C>T	1.0	3881	MELANOMA	-	-	-	-	RGL3	uc002mrm.2,p.G318E|uc002mrn.2,p.G318E|NM_001035223,p.G554E|uc002mrp.2,p.G554E|ENST00000380456,p.G554E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mrp.2	nonsynonymous SNV	exon16	c.G1661A	p.G554E	GDPSSPTSSVSPGSPPSSPRSRDAP	GDPSSPTSSVSPESPPSSPRSRDAP	9.0	2.0	unscreened	-	3881_19:11510616-11510616 C>T_GDPSSPTSSVSPESPPSSPRSRDAP
1:47505161-47505161 G>A	0.0	3881	MELANOMA	-	-	-	-	CYP4X1	uc001cqt.3,p.E344K|ENST00000371901,p.E344K|uc001cqs.3,p.E279K|uc001cqr.3,p.E343K|ENST00000538609,p.E343K|NM_178033,p.E344K	protein_coding, processed_transcript	uc001cqt.3	nonsynonymous SNV	exon8	c.G1030A	p.E344K	LALNPEHQERCREEVRGILGDGSSI	LALNPEHQERCRKEVRGILGDGSSI	1.0	4.0	unscreened	-	3881_1:47505161-47505161 G>A_LALNPEHQERCRKEVRGILGDGSSI
6:35923123-35923123 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC26A8	ENST00000490799,p.V680M|uc003oln.3,p.V680M|uc003olk.3,p.V262M|NM_138718,p.V575M|ENST00000394602,p.V575M|ENST00000355574,p.V680M|uc003olm.3,p.V680M|uc003oll.3,p.V575M|NM_052961,p.V680M|NM_001193476,p.V680M	retained_intron, protein_coding, nonsense_mediated_decay	uc003oln.3	nonsynonymous SNV	exon17	c.G2038A	p.V680M	VSQKNQGQQYEEVEEVWLPNNSSRN	VSQKNQGQQYEEMEEVWLPNNSSRN	1.0	2.0	unscreened	-	3881_6:35923123-35923123 C>T_VSQKNQGQQYEEMEEVWLPNNSSRN
3:50329894-50329894 C>T	0.0	3881	MELANOMA	-	-	-	-	IFRD2	ENST00000429673,p.A2T|uc011bdp.2,p.A2T|NM_006764,p.A2T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bdp.2	nonsynonymous SNV	exon1	c.G4A	p.A2T	MAWNSPSRRPVWQG	MTWNSPSRRPVWQG	7.0	1.0	unscreened	-	3881_3:50329894-50329894 C>T_MTWNSPSRRPVWQG
6:33134544-33134544 G>A	1.0	3881	MELANOMA	-	-	-	-	COL11A2	uc003ocy.1,p.R1345W|uc003ocx.1,p.R1431W|uc003ocz.1,p.R1324W|ENST00000374714,p.R1405W|ENST00000374713,p.R1384W|NM_080679,p.R1324W|ENST00000361917,p.R1324W|ENST00000357486,p.R1410W|NM_080680,p.R1431W|NM_080681,p.R1345W|ENST00000374708,p.R1345W|ENST00000341947,p.R1431W|ENST00000395197,p.R1371W|ENST00000374712,p.R1350W	protein_coding, processed_transcript	uc003ocz.1	nonsynonymous SNV	exon56	c.C3970T	p.R1324W	IGPPGEQGEKGDRGLPGPQGSPGQK	IGPPGEQGEKGDWGLPGPQGSPGQK	7.0	1.0	unscreened	-	3881_6:33134544-33134544 G>A_IGPPGEQGEKGDWGLPGPQGSPGQK
8:108306214-108306214 G>A	1.0	3881	MELANOMA	-	-	-	-	ANGPT1	ENST00000520734,p.R130C|ENST00000297450,p.R329C|uc003ymp.4,p.R129C|NM_001146,p.R330C|NM_001199859,p.R329C|uc003ymn.3,p.R330C|uc011lhv.2,p.R130C|ENST00000520052,p.R129C|uc003ymo.3,p.R329C|ENST00000517746,p.R330C	retained_intron, protein_coding, processed_transcript	uc011lhv.2	nonsynonymous SNV	exon5	c.C388T	p.R130C	DVNGGGWTVIQHREDGSLDFQRGWK	DVNGGGWTVIQHCEDGSLDFQRGWK	5.0	9.0	-	-	3881_8:108306214-108306214 G>A_DVNGGGWTVIQHCEDGSLDFQRGWK
2:21252796-21252796 C>T	0.0	3881	MELANOMA	-	-	-	-	APOB	ENST00000399256,p.E482K|uc002red.3,p.E482K|ENST00000233242,p.E482K|NM_000384,p.E482K	protein_coding	uc002red.3	nonsynonymous SNV	exon11	c.G1444A	p.E482K	LMEQIQDDCTGDEDYTYLILRVIGN	LMEQIQDDCTGDKDYTYLILRVIGN	1.0	1.0	unscreened	-	3881_2:21252796-21252796 C>T_LMEQIQDDCTGDKDYTYLILRVIGN
12:21997701-21997701 C>T	0.0	3881	MELANOMA	-	-	-	-	ABCC9	ENST00000261201,p.R1082K|NM_020297,p.R1082K|ENST00000544039,p.R709K|uc001rfh.3,p.R1082K|ENST00000345162,p.R1046K|NM_005691,p.R1082K|uc001rfi.1,p.R1082K|ENST00000261200,p.R1082K	protein_coding	uc001rfi.1	nonsynonymous SNV	exon25	c.G3245A	p.R1082K	HNLLNKIILGPIRFFDTTPLGLILN	HNLLNKIILGPIKFFDTTPLGLILN	5.0	6.0	unscreened	-	3881_12:21997701-21997701 C>T_HNLLNKIILGPIKFFDTTPLGLILN
17:54672276-54672276 C>T	0.0	3881	MELANOMA	-	-	-	-	NOG	NM_005450,p.S231L|uc002iup.2,p.S231L|ENST00000332822,p.S231L	protein_coding	uc002iup.2	nonsynonymous SNV	exon1	c.C692T	p.S231L	PIQYPIISECKCSC	PIQYPIISECKCLC	2.0	3.0	unscreened	-	3881_17:54672276-54672276 C>T_PIQYPIISECKCLC
19:9087326-9087326 G>A	0.0	3881	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.H1497Y|uc002mkp.3,p.H1497Y|NM_024690,p.H1497Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C4489T	p.H1497Y	TFAIFPPMSTPSHELSKSEADTSAI	TFAIFPPMSTPSYELSKSEADTSAI	1.0	8.0	unscreened	-	3881_19:9087326-9087326 G>A_TFAIFPPMSTPSYELSKSEADTSAI
X:109695546-109695546 G>A	0.0	3881	MELANOMA	-	-	-	-	RGAG1	uc011msr.1,p.M567I|ENST00000465301,p.M567I|NM_020769,p.M567I|uc004eor.2,p.M567I|ENST00000540313,p.M567I	protein_coding	uc011msr.1	nonsynonymous SNV	exon3	c.G1701A	p.M567I	RTMASGLTSAAQMKAMTSGAMSTPL	RTMASGLTSAAQIKAMTSGAMSTPL	2.0	7.0	unscreened	-	3881_X:109695546-109695546 G>A_RTMASGLTSAAQIKAMTSGAMSTPL
10:81317129-81317129 G>A	0.0	3881	MELANOMA	-	-	-	-	SFTPA2	uc001kan.4,p.P195S|NM_001098668,p.P195S|uc001kal.4,p.P195S|ENST00000372325,p.P195S|ENST00000372327,p.P195S	protein_coding, processed_transcript	uc001kan.4	nonsynonymous SNV	exon5	c.C583T	p.P195S	TYAYVGLTEGPSPGDFRYSDGTPVN	TYAYVGLTEGPSSGDFRYSDGTPVN	1.0	1.0	unscreened	-	3881_10:81317129-81317129 G>A_TYAYVGLTEGPSSGDFRYSDGTPVN
10:50916616-50916616 C>T	0.0	3881	MELANOMA	-	-	-	-	C10orf53	ENST00000535836,p.H143Y|NM_182554,p.H143Y|uc001jid.1,p.H143Y|ENST00000374112,p.H143Y	protein_coding	uc001jid.1	nonsynonymous SNV	exon3	c.C427T	p.H143Y	TNLCDLGWPGLDHMLISGLEKRGTQ	TNLCDLGWPGLDYMLISGLEKRGTQ	1.0	2.0	unscreened	-	3881_10:50916616-50916616 C>T_TNLCDLGWPGLDYMLISGLEKRGTQ
12:53072000-53072000 C>T	0.0	3881	MELANOMA	-	-	-	-	KRT1	NM_006121,p.D272N|uc001sau.1,p.D272N|ENST00000252244,p.D272N|uc001sav.1,p.D272N	retained_intron, protein_coding	uc001sav.1	nonsynonymous SNV	exon3	c.G814A	p.D272N	QDMVEDYRNKYEDEINKRTNAENEF	QDMVEDYRNKYENEINKRTNAENEF	1.0	3.0	unscreened	-	3881_12:53072000-53072000 C>T_QDMVEDYRNKYENEINKRTNAENEF
X:75004606-75004606 G>-	0.0	3881	MELANOMA	-	-	-	-	MAGEE2	ENST00000373359,p.A94fs|NM_138703,p.A94fs|uc004ecj.2,p.A94fs	protein_coding	uc004ecj.2	frameshift deletion	exon1	c.281delC	p.A94fs	LRVHDPLEDRSIALVNFMRMKSQTE	LRVHDPLEDRSIVW	1.0	2.0	unscreened	-	3881_X:75004606-75004606 G>-_LRVHDPLEDRSIVW
20:3725664-3725664 G>A	0.0	3881	MELANOMA	-	-	-	-	HSPA12B	uc010zqi.2,p.D128N|uc002wjd.3,p.D128N|ENST00000254963,p.D128N|NM_001197327,p.D128N|NM_052970,p.D128N|ENST00000399701,p.D42N|uc002wje.3,p.D41N	protein_coding	uc010zqi.2	nonsynonymous SNV	exon5	c.G382A	p.D128N	HSFGYTARDYYHDLDPEEARDWLYF	HSFGYTARDYYHNLDPEEARDWLYF	3.0	9.0	unscreened	-	3881_20:3725664-3725664 G>A_HSFGYTARDYYHNLDPEEARDWLYF
13:24466137-24466137 C>T	0.0	3881	MELANOMA	-	-	-	-	C1QTNF9B	uc010tcw.2,p.G98E|NM_001007537,p.G98E|uc010tcx.2,p.G98E|ENST00000382137,p.G98E|ENST00000382140,p.G98E	protein_coding, processed_transcript	uc010tcx.2	nonsynonymous SNV	exon3	c.G293A	p.G98E	GIKGDQGSRGSPGKHGPKGLAGPMG	GIKGDQGSRGSPEKHGPKGLAGPMG	1.0	1.0	unscreened	-	3881_13:24466137-24466137 C>T_GIKGDQGSRGSPEKHGPKGLAGPMG
6:39286900-39286900 C>T	0.0	3881	MELANOMA	-	-	-	-	KCNK16	uc003ooq.3,p.E75K|uc010jwy.3,p.E75K|ENST00000437525,p.E75K|ENST00000373227,p.E75K|uc011dtz.1,p.E75K|NM_001135105,p.E75K|ENST00000373229,p.E75K|NM_001135106,p.E75K|ENST00000425054,p.E75K|NM_032115,p.E75K|NM_001135107,p.E75K|uc003oor.4,p.E75K	protein_coding	uc011dtz.1	nonsynonymous SNV	exon2	c.G223A	p.E75K	QWAMEQFVQVIMEAWVKGVNPKGNS	QWAMEQFVQVIMKAWVKGVNPKGNS	1.0	2.0	unscreened	-	3881_6:39286900-39286900 C>T_QWAMEQFVQVIMKAWVKGVNPKGNS
15:74364642-74364642 C>T	0.0	3881	MELANOMA	-	-	-	-	GOLGA6A	NM_001038640,p.G504R|ENST00000290438,p.G504R|uc002axa.1,p.G504R	retained_intron, protein_coding	uc002axa.1	nonsynonymous SNV	exon14	c.G1510A	p.G504R	LSLVALPGEGDGGQHLDSEEEEAPR	LSLVALPGEGDGRQHLDSEEEEAPR	4.0	1.0	unscreened	-	3881_15:74364642-74364642 C>T_LSLVALPGEGDGRQHLDSEEEEAPR
12:50186677-50186677 G>A	1.0	3881	MELANOMA	-	-	-	-	NCKAP5L	uc001rvc.3,p.P349S|uc009zlk.2,p.P1145S|NM_001037806,p.P1145S|ENST00000335999,p.P1145S|uc001rvb.2,p.P738S	retained_intron, protein_coding, processed_transcript	uc009zlk.2	nonsynonymous SNV	exon11	c.C3433T	p.P1145S	DHGSSGTPSKNLPKTKPPRLDPPPG	DHGSSGTPSKNLSKTKPPRLDPPPG	7.0	3.0	unscreened	-	3881_12:50186677-50186677 G>A_DHGSSGTPSKNLSKTKPPRLDPPPG
2:105859184-105859184 C>T	0.0	3881	MELANOMA	-	-	-	-	GPR45	NM_007227,p.S290F|uc002tco.1,p.S290F|ENST00000258456,p.S290F	protein_coding	uc002tco.1	nonsynonymous SNV	exon1	c.C869T	p.S290F	LCWLPHSVYSLLSVFSQRFYCGSSF	LCWLPHSVYSLLFVFSQRFYCGSSF	1.0	5.0	unscreened	-	3881_2:105859184-105859184 C>T_LCWLPHSVYSLLFVFSQRFYCGSSF
7:150171646-150171646 G>T	0.0	3881	MELANOMA	-	-	ID=COSM1087223;OCCURENCE=1(endometrium)	-	GIMAP8	NM_175571,p.R410M|uc003whj.3,p.R410M|ENST00000307271,p.R410M	protein_coding	uc003whj.3	nonsynonymous SNV	exon4	c.G1229T	p.R410M	AFNYRATGEEEQRQADELLEKIESM	AFNYRATGEEEQMQADELLEKIESM	5.0	8.0	unscreened	-	3881_7:150171646-150171646 G>T_AFNYRATGEEEQMQADELLEKIESM
17:43911411-43911411 T>C	0.0	3881	MELANOMA	-	-	-	-	CRHR1	ENST00000339069,p.V222A|uc002ijp.3,p.V222A	retained_intron, protein_coding, nonsense_mediated_decay	uc002ijp.3	nonsynonymous SNV	exon12	c.T665C	p.V222A	ASLCLCSTVSSIVRSVLPSGRGGTG	ASLCLCSTVSSIARSVLPSGRGGTG	1.0	7.0	unscreened	-	3881_17:43911411-43911411 T>C_ASLCLCSTVSSIARSVLPSGRGGTG
15:39544367-39544367 G>C	0.0	3881	MELANOMA	-	-	-	-	C15orf54	ENST00000318578,p.G11R|NM_207445,p.G11R|uc001zkg.2,p.G11R|uc021sjb.1,p.G11R|ENST00000561223,p.G11R	protein_coding	uc021sjb.1	nonsynonymous SNV	exon1	c.G31C	p.G11R	MEVKFITGKHGGRRPQRAEPQRI	MEVKFITGKHRGRRPQRAEPQRI	2.0	1.0	unscreened	-	3881_15:39544367-39544367 G>C_MEVKFITGKHRGRRPQRAEPQRI
19:56373372-56373372 C>T	0.0	3881	MELANOMA	-	-	-	-	NLRP4	uc002qmd.4,p.S678F|ENST00000301295,p.S678F|uc010etf.3,p.S509F|NM_134444,p.S678F|ENST00000587891,p.S603F|ENST00000346986,p.S678F|uc002qmf.3,p.S603F	protein_coding	uc010etf.3	nonsynonymous SNV	exon3	c.C1526T	p.S509F	SCRLQKLGINNVSFSGQSVLLFEVL	SCRLQKLGINNVFFSGQSVLLFEVL	1.0	3.0	unscreened	-	3881_19:56373372-56373372 C>T_SCRLQKLGINNVFFSGQSVLLFEVL
17:34073087-34073087 C>T	0.0	3881	MELANOMA	-	-	-	-	GAS2L2	ENST00000254466,p.E477K|uc002hjv.2,p.E477K|NM_139285,p.E477K|ENST00000587565,p.E461K	protein_coding	uc002hjv.2	nonsynonymous SNV	exon6	c.G1429A	p.E477K	AECLGLRLPLRDEAKGAFFQFREPE	AECLGLRLPLRDKAKGAFFQFREPE	1.0	6.0	unscreened	-	3881_17:34073087-34073087 C>T_AECLGLRLPLRDKAKGAFFQFREPE
3:55038837-55038837 G>A	0.0	3881	MELANOMA	-	-	-	-	CACNA2D3	ENST00000288197,p.S913N|ENST00000490478,p.S819N|uc003dhf.3,p.S913N|NM_018398,p.S913N|uc003dhg.1,p.S819N|ENST00000415676,p.S913N|ENST00000474759,p.S913N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dhg.1	nonsynonymous SNV	exon31	c.G2456A	p.S819N	YDYQAMCRANKESSDGAHGLLDPYN	YDYQAMCRANKENSDGAHGLLDPYN	1.0	1.0	unscreened	-	3881_3:55038837-55038837 G>A_YDYQAMCRANKENSDGAHGLLDPYN
3:108179190-108179190 C>T	0.0	3881	MELANOMA	-	-	-	-	MYH15	ENST00000273353,p.R650Q|NM_014981,p.R650Q|uc003dxa.1,p.R650Q	retained_intron, protein_coding, processed_transcript	uc003dxa.1	nonsynonymous SNV	exon18	c.G1949A	p.R650Q	STDSAIPFGEKKRKKGASFQTVASL	STDSAIPFGEKKQKKGASFQTVASL	2.0	1.0	unscreened	-	3881_3:108179190-108179190 C>T_STDSAIPFGEKKQKKGASFQTVASL
9:34709826-34709826 G>A	0.0	3881	MELANOMA	-	-	-	-	CCL21	ENST00000378792,p.R46C|ENST00000259607,p.R46C|uc003zvo.4,p.R46C|NM_002989,p.R46C	protein_coding	uc003zvo.4	nonsynonymous SNV	exon2	c.C136T	p.R46C	KYSQRKIPAKVVRSYRKQEPSLGCS	KYSQRKIPAKVVCSYRKQEPSLGCS	3.0	2.0	unscreened	-	3881_9:34709826-34709826 G>A_KYSQRKIPAKVVCSYRKQEPSLGCS
21:41550893-41550893 C>T	0.0	3881	MELANOMA	-	-	-	-	DSCAM	uc031rvr.1,p.E970K|NM_001389,p.E970K|NM_001271534,p.E970K|ENST00000400454,p.E970K|uc002yyq.1,p.E970K|ENST00000404019,p.E722K	protein_coding	uc031rvr.1	nonsynonymous SNV	exon15	c.G2908A	p.E970K	IRMYAKNRIGKSEPSNELTITADEA	IRMYAKNRIGKSKPSNELTITADEA	1.0	6.0	unscreened	-	3881_21:41550893-41550893 C>T_IRMYAKNRIGKSKPSNELTITADEA
3:121100155-121100155 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1670485;OCCURENCE=1(large_intestine)	-	STXBP5L	uc011bji.2,p.S788F|ENST00000472879,p.S788F|uc003eec.4,p.S812F|ENST00000471454,p.S788F|ENST00000273666,p.S812F|ENST00000492541,p.S812F|NM_014980,p.S812F	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon22	c.C2363T	p.S788F	SLPVTTEENRENSYNRSRSSSISSI	SLPVTTEENRENFYNRSRSSSISSI	1.0	9.0	unscreened	-	3881_3:121100155-121100155 C>T_SLPVTTEENRENFYNRSRSSSISSI
X:55248287-55248287 G>A	0.0	3881	MELANOMA	-	-	-	-	PAGE5	NM_001013435,p.E57K|uc004duk.3,p.E57K|NM_130467,p.E77K|uc004duj.3,p.E77K|ENST00000289619,p.E77K|ENST00000374955,p.E57K	protein_coding	uc004duk.3	nonsynonymous SNV	exon3	c.G169A	p.E57K	NQGIAPSGEIKNEGAPAVQGTDVEA	NQGIAPSGEIKNKGAPAVQGTDVEA	9.0	7.0	unscreened	-	3881_X:55248287-55248287 G>A_NQGIAPSGEIKNKGAPAVQGTDVEA
11:32413557-32413557 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1317334,COSM1317335;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	1	WT1	uc001mtl.2,p.H253Y|NM_001198551,p.H253Y|ENST00000448076,p.H465Y|NM_000378,p.H448Y|ENST00000379079,p.H253Y|uc001mtq.2,p.H448Y|NM_024424,p.H465Y|uc001mto.2,p.H465Y|ENST00000452863,p.H448Y	protein_coding, nonsense_mediated_decay	uc001mtq.2	nonsynonymous SNV	exon8	c.C1342T	p.H448Y	CKTCQRKFSRSDHLKTHTRTHTGEK	CKTCQRKFSRSDYLKTHTRTHTGEK	2.0	3.0	unscreened	-	3881_11:32413557-32413557 G>A_CKTCQRKFSRSDYLKTHTRTHTGEK
12:108004109-108004109 G>A	0.0	3881	MELANOMA	-	-	-	-	BTBD11	NM_001017523,p.G133R|ENST00000490090,p.G596R|ENST00000280758,p.G596R|uc001tmk.1,p.G596R|NM_001018072,p.G596R|ENST00000357167,p.G133R|uc009zut.1,p.G596R|uc001tmj.3,p.G596R|ENST00000420571,p.G596R|uc001tml.1,p.G133R	protein_coding	uc009zut.1	nonsynonymous SNV	exon5	c.G1786A	p.G596R	LVKQAVSLLGPDGINTMSEQGMTPL	LVKQAVSLLGPDRINTMSEQGMTPL	2.0	4.0	unscreened	-	3881_12:108004109-108004109 G>A_LVKQAVSLLGPDRINTMSEQGMTPL
3:148552396-148552396 G>A	0.0	3881	MELANOMA	-	-	-	-	CPB1	ENST00000462345,p.E87K|uc003ewl.3,p.E87K|ENST00000468341,p.E87K|ENST00000491148,p.E87K|ENST00000282957,p.E87K|NM_001871,p.E87K	retained_intron, protein_coding, processed_transcript	uc003ewl.3	nonsynonymous SNV	exon3	c.G259A	p.E87K	DTVTVENVLKQNELQYKVLISNLRN	DTVTVENVLKQNKLQYKVLISNLRN	1.0	2.0	unscreened	-	3881_3:148552396-148552396 G>A_DTVTVENVLKQNKLQYKVLISNLRN
12:53170627-53170627 C>T	0.0	3881	MELANOMA	-	-	-	-	KRT76	NM_015848,p.G150D|ENST00000332411,p.G150D|uc001sax.3,p.G150D	protein_coding	uc001sax.3	nonsynonymous SNV	exon1	c.G449A	p.G150D	GSFGGPGGFGPGGFPGGIQEVIVNQ	GSFGGPGGFGPGDFPGGIQEVIVNQ	1.0	9.0	unscreened	-	3881_12:53170627-53170627 C>T_GSFGGPGGFGPGDFPGGIQEVIVNQ
10:72299387-72299387 G>A	0.0	3881	MELANOMA	-	-	-	-	PALD1	ENST00000263563,p.E593K|uc001jrd.4,p.E593K|NM_014431,p.E593K	protein_coding	uc001jrd.4	nonsynonymous SNV	exon15	c.G1777A	p.E593K	LKAHLSEPPPGKEGPLTYRFQTCLT	LKAHLSEPPPGKKGPLTYRFQTCLT	5.0	9.0	unscreened	-	3881_10:72299387-72299387 G>A_LKAHLSEPPPGKKGPLTYRFQTCLT
11:120702677-120702677 G>A	0.0	3881	MELANOMA	-	-	ID=COSM202444;OCCURENCE=1(large_intestine)	-	GRIK4	NM_001282473,p.D210N|NM_001282470,p.D210N|ENST00000527524,p.D210N|ENST00000438375,p.D210N|NM_014619,p.D210N|uc009zax.1,p.D210N|uc001pxn.2,p.D210N|uc009zaw.1,p.D210N|uc009zav.1,p.D210N	retained_intron, protein_coding, processed_transcript	uc009zax.1	nonsynonymous SNV	exon5	c.G628A	p.D210N	RDPTPLLKEIRDDKTATIIIHANAS	RDPTPLLKEIRDNKTATIIIHANAS	1.0	5.0	unscreened	-	3881_11:120702677-120702677 G>A_RDPTPLLKEIRDNKTATIIIHANAS
12:18876445-18876445 G>A	0.0	3881	MELANOMA	-	-	-	-	PLCZ1	ENST00000447925,p.T54I|ENST00000266505,p.T56I|NM_033123,p.T56I|uc021qvx.2,p.T56I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qvx.2	nonsynonymous SNV	exon4	c.C167T	p.T56I	FKDNDRLKQGRITIEEFRAIYRIIT	FKDNDRLKQGRIIIEEFRAIYRIIT	1.0	5.0	unscreened	-	3881_12:18876445-18876445 G>A_FKDNDRLKQGRIIIEEFRAIYRIIT
19:20117938-20117938 C>T	0.0	3881	MELANOMA	-	-	-	-	ZNF682	uc010eck.3,p.D49N|NM_033196,p.D125N|uc002nop.3,p.D93N|ENST00000597972,p.D131N|ENST00000601100,p.D93N|uc002noo.3,p.D93N|NM_001077349,p.D93N|ENST00000397165,p.D125N|uc002noq.3,p.D125N|ENST00000397162,p.D93N|ENST00000595736,p.D49N|ENST00000358523,p.D93N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010eck.3	nonsynonymous SNV	exon2	c.G145A	p.D49N	LRKDGENVGECKDQKEIYNGLNQCL	LRKDGENVGECKNQKEIYNGLNQCL	4.0	1.0	unscreened	-	3881_19:20117938-20117938 C>T_LRKDGENVGECKNQKEIYNGLNQCL
1:92470677-92470677 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1184920;OCCURENCE=1(large_intestine)	-	BRDT	uc010ota.2,p.D820N|uc001dok.4,p.D866N|NM_001242805,p.D866N|uc001dom.4,p.D866N|NM_207189,p.D866N|NM_001242810,p.D793N|ENST00000402388,p.D866N|uc010osz.2,p.D870N|NM_001242806,p.D870N|uc010otb.2,p.D820N|uc001dol.4,p.D866N|NM_001242808,p.D820N|uc009wdf.3,p.D793N|ENST00000394530,p.D820N|NM_001242807,p.D820N|ENST00000399546,p.D866N|ENST00000370389,p.D793N|ENST00000362005,p.D866N|NM_001726,p.D866N	protein_coding, processed_transcript	uc010otb.2	nonsynonymous SNV	exon17	c.G2458A	p.D820N	TKELKASQENQRDLGNGLTVESFSN	TKELKASQENQRNLGNGLTVESFSN	1.0	2.0	unscreened	-	3881_1:92470677-92470677 G>A_TKELKASQENQRNLGNGLTVESFSN
11:32413557-32413557 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1317334,COSM1317335;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	1	WT1	NM_024426,p.H465Y|ENST00000530998,p.H236Y|uc001mtn.2,p.H465Y|ENST00000332351,p.H465Y|NM_001198552,p.H236Y|uc001mtm.2,p.H236Y	protein_coding, nonsense_mediated_decay	uc001mtn.2	nonsynonymous SNV	exon9	c.C1393T	p.H465Y	CKTCQRKFSRSDHLKTHTRTHTGKT	CKTCQRKFSRSDYLKTHTRTHTGKT	2.0	3.0	unscreened	-	3881_11:32413557-32413557 G>A_CKTCQRKFSRSDYLKTHTRTHTGKT
2:103136350-103136350 C>T	0.0	3881	MELANOMA	0.01	-	-	-	SLC9A4	uc002tbz.4,p.S585F|ENST00000295269,p.S585F|NM_001011552,p.S585F	retained_intron, protein_coding	uc002tbz.4	nonsynonymous SNV	exon9	c.C1754T	p.S585F	HQAQRIQGIKRLSPEDVESIRDILT	HQAQRIQGIKRLFPEDVESIRDILT	1.0	5.0	unscreened	-	3881_2:103136350-103136350 C>T_HQAQRIQGIKRLFPEDVESIRDILT
11:67173441-67173441 G>A	0.0	3881	MELANOMA	-	-	-	-	TBC1D10C	ENST00000312390,p.A179T|ENST00000542590,p.A179T|ENST00000529635,p.A179T|NM_198517,p.A179T|uc001ola.4,p.A179T	retained_intron, protein_coding, nonsense_mediated_decay	uc001ola.4	nonsynonymous SNV	exon6	c.G535A	p.A179T	YTLYRPEQGYCQAQGPVAAVLLMHL	YTLYRPEQGYCQTQGPVAAVLLMHL	4.0	2.0	unscreened	-	3881_11:67173441-67173441 G>A_YTLYRPEQGYCQTQGPVAAVLLMHL
2:98828447-98828447 G>A	0.0	3881	MELANOMA	-	-	-	-	VWA3B	uc010yvh.2,p.E448K|uc002syo.3,p.E598K|uc002sym.3,p.E598K|ENST00000477737,p.E598K|ENST00000433678,p.E598K|NM_144992,p.E598K|uc010yvi.1,p.E255K|ENST00000451075,p.E448K|ENST00000435344,p.E598K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yvi.1	nonsynonymous SNV	exon7	c.G763A	p.E255K	TLSALKTAFADKETQAIYLLTDGRP	TLSALKTAFADKKTQAIYLLTDGRP	2.0	2.0	unscreened	-	3881_2:98828447-98828447 G>A_TLSALKTAFADKKTQAIYLLTDGRP
5:98208146-98208146 G>A	1.0	3881	MELANOMA	-	-	-	-	CHD1	ENST00000284049,p.P1229S|uc003knf.3,p.P1229S|NM_001270,p.P1229S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003knf.3	nonsynonymous SNV	exon26	c.C3685T	p.P1229S	HEEELIPLHKSIPSDPEERKQYTIP	HEEELIPLHKSISSDPEERKQYTIP	10.0	3.0	unscreened	-	3881_5:98208146-98208146 G>A_HEEELIPLHKSISSDPEERKQYTIP
12:33559965-33559965 C>T	0.0	3881	MELANOMA	-	-	-	-	SYT10	uc001rll.1,p.R279K|ENST00000228567,p.R279K|ENST00000535526,p.R98K|uc009zju.1,p.R89K|NM_198992,p.R279K	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zju.1	nonsynonymous SNV	exon5	c.G266A	p.R89K	SDPYVKMYLLPDRKKKFQTRVHRKT	SDPYVKMYLLPDKKKKFQTRVHRKT	1.0	1.0	unscreened	-	3881_12:33559965-33559965 C>T_SDPYVKMYLLPDKKKKFQTRVHRKT
8:121239538-121239538 C>T	0.0	3881	MELANOMA	-	-	-	-	COL14A1	NM_021110,p.A695V|ENST00000247781,p.A600V|ENST00000297848,p.A695V|uc003yoy.3,p.A373V|uc003yox.4,p.A695V|ENST00000309791,p.A695V|ENST00000434620,p.A508V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yoy.3	nonsynonymous SNV	exon12	c.C1118T	p.A373V	LEPGTEYEVSLLAVLDDGSESEVVT	LEPGTEYEVSLLVVLDDGSESEVVT	6.0	5.0	unscreened	-	3881_8:121239538-121239538 C>T_LEPGTEYEVSLLVVLDDGSESEVVT
11:132306620-132306620 C>T	0.0	3881	MELANOMA	-	-	-	-	OPCML	uc001qgu.3,p.G233S|ENST00000524381,p.G233S|uc010scl.2,p.G199S|uc010sck.2,p.G240S|NM_001012393,p.G233S|uc001qgs.3,p.G240S|ENST00000541867,p.G240S|ENST00000374778,p.G199S|uc001qgt.3,p.G239S|ENST00000331898,p.G240S|NM_002545,p.G240S	protein_coding, processed_transcript	uc010scl.2	nonsynonymous SNV	exon6	c.G595A	p.G199S	KAKNTGVSVGQKGILSCEASAVPMA	KAKNTGVSVGQKSILSCEASAVPMA	1.0	2.0	unscreened	-	3881_11:132306620-132306620 C>T_KAKNTGVSVGQKSILSCEASAVPMA
2:196673414-196673414 C>T	0.0	3881	MELANOMA	-	-	-	-	DNAH7	ENST00000312428,p.D3359N|NM_018897,p.D3359N|uc002utj.4,p.D3359N	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon53	c.G10075A	p.D3359N	FMRLKDGWKKVYDSLEPHHEVFPEE	FMRLKDGWKKVYNSLEPHHEVFPEE	4.0	8.0	unscreened	-	3881_2:196673414-196673414 C>T_FMRLKDGWKKVYNSLEPHHEVFPEE
17:39535848-39535848 C>T	0.0	3881	MELANOMA	-	-	-	-	KRT34	uc002hwm.3,p.E284K|ENST00000394001,p.E284K|NM_021013,p.E284K	protein_coding	uc002hwm.3	nonsynonymous SNV	exon4	c.G850A	p.E284K	SQYEALVEINRREVEQWFATQTEEL	SQYEALVEINRRKVEQWFATQTEEL	1.0	3.0	unscreened	-	3881_17:39535848-39535848 C>T_SQYEALVEINRRKVEQWFATQTEEL
7:2984094-2984094 C>T	0.0	3881	MELANOMA	-	-	-	1	CARD11	ENST00000396946,p.D146N|NM_032415,p.D146N|uc003smv.3,p.D146N	retained_intron, protein_coding	uc003smv.3	nonsynonymous SNV	exon5	c.G436A	p.D146N	EVIKLQQQMKAKDLQRCELLARLRQ	EVIKLQQQMKAKNLQRCELLARLRQ	5.0	6.0	unscreened	-	3881_7:2984094-2984094 C>T_EVIKLQQQMKAKNLQRCELLARLRQ
16:22926791-22926791 G>A	0.0	3881	MELANOMA	-	-	-	-	HS3ST2	ENST00000261374,p.D338N|NM_006043,p.D338N|uc002dli.3,p.D338N	protein_coding, nonsense_mediated_decay	uc002dli.3	nonsynonymous SNV	exon2	c.G1012A	p.D338N	LGKSKGRTHVQIDPEVIDQLREFYR	LGKSKGRTHVQINPEVIDQLREFYR	2.0	7.0	unscreened	-	3881_16:22926791-22926791 G>A_LGKSKGRTHVQINPEVIDQLREFYR
1:167097278-167097278 G>T	0.0	3881	MELANOMA	-	-	-	-	DUSP27	uc001geb.1,p.E970D|ENST00000361200,p.E970D|NM_001080426,p.E970D|ENST00000271385,p.E970D|ENST00000443333,p.E970D	protein_coding, processed_transcript	uc001geb.1	nonsynonymous SNV	exon5	c.G2910T	p.E970D	SRGKYTRSSLLRETESKSSSYKFSK	SRGKYTRSSLLRDTESKSSSYKFSK	1.0	9.0	unscreened	-	3881_1:167097278-167097278 G>T_SRGKYTRSSLLRDTESKSSSYKFSK
4:98865133-98865133 C>T	0.0	3881	MELANOMA	-	-	-	-	STPG2	uc003htt.2,p.G320E|NM_174952,p.G320E|ENST00000295268,p.G320E|ENST00000522676,p.G34E	protein_coding, processed_transcript	uc003htt.2	nonsynonymous SNV	exon8	c.G959A	p.G320E	ADYQEFWHSQGVGISDELPNLTNKY	ADYQEFWHSQGVEISDELPNLTNKY	1.0	8.0	unscreened	-	3881_4:98865133-98865133 C>T_ADYQEFWHSQGVEISDELPNLTNKY
2:166898934-166898934 C>T	0.0	3881	MELANOMA	-	-	-	-	SCN1A	ENST00000303395,p.G682R|NM_001202435,p.G682R|NM_001165963,p.G682R|uc002udo.4,p.G682R|ENST00000423058,p.G682R	retained_intron, protein_coding	uc002udo.4	nonsynonymous SNV	exon14	c.G2044A	p.G682R	EVIIDKPATDDNGTTTETEMRKRRS	EVIIDKPATDDNRTTTETEMRKRRS	1.0	2.0	unscreened	-	3881_2:166898934-166898934 C>T_EVIIDKPATDDNRTTTETEMRKRRS
19:20117685-20117685 G>T	0.0	3881	MELANOMA	-	-	-	-	ZNF682	ENST00000597972,p.T215N|ENST00000397165,p.T209N|NM_001077349,p.T177N|uc010eck.3,p.T133N|uc002noo.3,p.T177N|ENST00000358523,p.T177N|ENST00000595736,p.T133N|NM_033196,p.T209N|uc002noq.3,p.T209N|uc002nop.3,p.T177N|ENST00000397162,p.T177N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010eck.3	nonsynonymous SNV	exon2	c.C398A	p.T133N	EEKLCICEECGKTFKWFSYLTKHKR	EEKLCICEECGKNFKWFSYLTKHKR	4.0	8.0	unscreened	-	3881_19:20117685-20117685 G>T_EEKLCICEECGKNFKWFSYLTKHKR
5:147040800-147040800 C>T	0.0	3881	MELANOMA	-	-	-	-	JAKMIP2	NM_001282282,p.R71K|NM_001270941,p.R113K|NM_014790,p.R113K|uc010jgo.2,p.R113K|ENST00000507386,p.R113K|ENST00000333010,p.R71K|uc011dbx.2,p.R71K|uc003lor.2,p.R113K|NM_001270934,p.R113K|ENST00000265272,p.R113K|uc003loq.2,p.R113K	retained_intron, protein_coding	uc011dbx.2	nonsynonymous SNV	exon2	c.G212A	p.R71K	SRTVKVRDGEIQRLKSALCALRDGS	SRTVKVRDGEIQKLKSALCALRDGS	3.0	4.0	unscreened	-	3881_5:147040800-147040800 C>T_SRTVKVRDGEIQKLKSALCALRDGS
12:11546725-11546725 C>T	0.0	3881	MELANOMA	-	-	-	-	PRB2	uc010shk.1,p.G96E|NM_006248,p.G96E|ENST00000389362,p.G96E	protein_coding, processed_transcript	uc010shk.1	nonsynonymous SNV	exon3	c.G287A	p.G96E	QGGNKPQGPPPPGKPQGPPPQGDKS	QGGNKPQGPPPPEKPQGPPPQGDKS	1.0	1.0	unscreened	-	3881_12:11546725-11546725 C>T_QGGNKPQGPPPPEKPQGPPPQGDKS
1:115600168-115600168 A>T	0.0	3881	MELANOMA	-	-	-	-	TSPAN2	uc021osc.1,p.L169Q|ENST00000369514,p.L169Q|ENST00000433172,p.L163Q	protein_coding, processed_transcript	uc021osc.1	nonsynonymous SNV	exon6	c.T506A	p.L169Q	SEQVQPTCPKELLGHKIFGMIFSMV	SEQVQPTCPKELQGHKIFGMIFSMV	5.0	6.0	unscreened	-	3881_1:115600168-115600168 A>T_SEQVQPTCPKELQGHKIFGMIFSMV
4:128688233-128688233 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC25A31	ENST00000281154,p.R164Q|NM_031291,p.R164Q|uc003ifl.3,p.R164Q	protein_coding	uc003ifl.3	nonsynonymous SNV	exon4	c.G491A	p.R164Q	RLGVDIGKGPEERQFKGLGDCIMKI	RLGVDIGKGPEEQQFKGLGDCIMKI	1.0	9.0	unscreened	-	3881_4:128688233-128688233 G>A_RLGVDIGKGPEEQQFKGLGDCIMKI
11:129321269-129321269 C>T	0.0	3881	MELANOMA	-	-	-	-	BARX2	ENST00000281437,p.P271L|uc001qfc.4,p.P271L|ENST00000531946,p.P149L|ENST00000526127,p.P126L|NM_003658,p.P271L	protein_coding	uc001qfc.4	nonsynonymous SNV	exon4	c.C812T	p.P271L	AEPPDPPQELPIPSSEPPPLS	AEPPDPPQELPILSSEPPPLS	2.0	5.0	unscreened	-	3881_11:129321269-129321269 C>T_AEPPDPPQELPILSSEPPPLS
1:179414330-179414330 G>A	0.0	3881	MELANOMA	-	-	-	-	AXDND1	uc001gmn.2,p.G385R|ENST00000457238,p.G597R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001gmn.2	nonsynonymous SNV	exon14	c.G1153A	p.G385R	QKLYKEYEIRINGDNETGSHRVAQA	QKLYKEYEIRINRDNETGSHRVAQA	3.0	1.0	unscreened	-	3881_1:179414330-179414330 G>A_QKLYKEYEIRINRDNETGSHRVAQA
8:1574988-1574988 C>T	0.0	3881	MELANOMA	-	-	ID=COSM2872709,COSM2872710;OCCURENCE=1(central_nervous_system)	-	DLGAP2	uc003wpm.4,p.R429C|ENST00000421627,p.R429C|NM_004745,p.R429C|uc003wpl.4,p.R429C|NM_001277161,p.R429C	retained_intron, protein_coding, processed_transcript	uc003wpm.4	nonsynonymous SNV	exon4	c.C1285T	p.R429C	LDPAANYNSPKFRSRNQSYMRAVST	LDPAANYNSPKFCSRNQSYMRAVST	2.0	2.0	unscreened	-	3881_8:1574988-1574988 C>T_LDPAANYNSPKFCSRNQSYMRAVST
19:51918507-51918507 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1712686,COSM1712685;OCCURENCE=1(skin)	-	SIGLEC10	uc010eow.3,p.E232K|NM_001171157,p.E420K|ENST00000439889,p.E362K|uc002pwp.3,p.E362K|ENST00000525998,p.E330K|uc002pws.2,p.E272K|ENST00000442846,p.E272K|NM_001171158,p.E372K|uc010ycz.2,p.E372K|uc002pwr.3,p.E420K|ENST00000436984,p.E372K|ENST00000353836,p.E420K|ENST00000339313,p.E420K|ENST00000441969,p.E362K|ENST00000432469,p.E337K|uc002pwq.3,p.E362K|NM_001171156,p.E362K|uc010ycy.2,p.E330K|NM_033130,p.E420K|ENST00000356298,p.E420K|uc002pwo.3,p.E420K|NM_001171161,p.E272K|NM_001171159,p.E362K	retained_intron, protein_coding	uc010ycz.2	nonsynonymous SNV	exon7	c.G1114A	p.E372K	GVLELPRVQVEHEGEFTCHARHPLG	GVLELPRVQVEHKGEFTCHARHPLG	5.0	7.0	unscreened	-	3881_19:51918507-51918507 C>T_GVLELPRVQVEHKGEFTCHARHPLG
8:36644890-36644890 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1099409,COSM1099408;OCCURENCE=1(endometrium)	-	KCNU1	ENST00000399881,p.R88C|ENST00000523973,p.R88C|ENST00000522372,p.R88C|NM_001031836,p.R88C|uc010lvw.3,p.R88C|ENST00000522417,p.R88C	protein_coding, nonsense_mediated_decay	uc010lvw.3	nonsynonymous SNV	exon2	c.C262T	p.R88C	SHVRSLHFQGQFRDHIEMLLSAQTF	SHVRSLHFQGQFCDHIEMLLSAQTF	1.0	6.0	unscreened	-	3881_8:36644890-36644890 C>T_SHVRSLHFQGQFCDHIEMLLSAQTF
11:6023660-6023660 G>A	0.0	3881	MELANOMA	-	-	ID=COSM689416;OCCURENCE=1(central_nervous_system),1(lung)	-	OR56A4	NM_001005179,p.S240F|uc010qzv.2,p.S240F|ENST00000330728,p.S240F	protein_coding	uc010qzv.2	nonsynonymous SNV	exon1	c.C719T	p.S240F	IIKNCICSNLSVSKLSCDDITFNQL	IIKNCICSNLSVFKLSCDDITFNQL	1.0	2.0	unscreened	-	3881_11:6023660-6023660 G>A_IIKNCICSNLSVFKLSCDDITFNQL
20:9496903-9496903 G>A	0.0	3881	MELANOMA	-	-	-	-	LAMP5	NM_012261,p.E124K|uc002wni.2,p.E124K|ENST00000246070,p.E124K	protein_coding	uc002wni.2	nonsynonymous SNV	exon4	c.G370A	p.E124K	DRAYALKMLFVKESHNMSKGPEATW	DRAYALKMLFVKKSHNMSKGPEATW	3.0	1.0	unscreened	-	3881_20:9496903-9496903 G>A_DRAYALKMLFVKKSHNMSKGPEATW
1:20141321-20141321 G>A	0.0	3881	MELANOMA	-	-	-	-	RNF186	uc001bcr.3,p.P92S|ENST00000375121,p.P92S|NM_019062,p.P92S	protein_coding	uc001bcr.3	nonsynonymous SNV	exon1	c.C274T	p.P92S	ITCPLCRKVTAVPGGLICSLRDHEA	ITCPLCRKVTAVSGGLICSLRDHEA	3.0	4.0	unscreened	-	3881_1:20141321-20141321 G>A_ITCPLCRKVTAVSGGLICSLRDHEA
12:8803174-8803174 C>T	0.0	3881	MELANOMA	-	-	-	-	MFAP5	ENST00000540087,p.E77K|NM_001297710,p.E65K|ENST00000544211,p.E77K|NM_001297709,p.E77K|uc001qus.2,p.E77K|ENST00000396549,p.E77K|ENST00000543369,p.E65K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qus.2	nonsynonymous SNV	exon7	c.G229A	p.E77K	IAPSTDDLECWDEKFTCTRLYSVHR	IAPSTDDLECWDKKFTCTRLYSVHR	6.0	7.0	unscreened	-	3881_12:8803174-8803174 C>T_IAPSTDDLECWDKKFTCTRLYSVHR
12:8803174-8803174 C>T	0.0	3881	MELANOMA	-	-	-	-	MFAP5	ENST00000359478,p.E87K|NM_003480,p.E87K|ENST00000537009,p.E87K|uc001qut.1,p.E87K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qut.1	nonsynonymous SNV	exon8	c.G259A	p.E87K	LSEKNTTAECWDEKFTCTRLYSVHR	LSEKNTTAECWDKKFTCTRLYSVHR	6.0	7.0	unscreened	-	3881_12:8803174-8803174 C>T_LSEKNTTAECWDKKFTCTRLYSVHR
12:8803174-8803174 C>T	0.0	3881	MELANOMA	-	-	-	-	MFAP5	NM_001297711,p.E62K|uc009zge.1,p.E62K|ENST00000433590,p.E62K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zge.1	nonsynonymous SNV	exon6	c.G184A	p.E62K	NDPATDETECWDEKFTCTRLYSVHR	NDPATDETECWDKKFTCTRLYSVHR	6.0	7.0	unscreened	-	3881_12:8803174-8803174 C>T_NDPATDETECWDKKFTCTRLYSVHR
1:158653217-158653217 C>T	0.0	3881	MELANOMA	-	-	-	-	SPTA1	ENST00000368147,p.E112K|NM_003126,p.E112K|ENST00000368148,p.E112K|uc001fst.1,p.E112K	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon3	c.G334A	p.E112K	EVQTKSRLMSELEKTREERFTMGHS	EVQTKSRLMSELKKTREERFTMGHS	4.0	2.0	unscreened	-	3881_1:158653217-158653217 C>T_EVQTKSRLMSELKKTREERFTMGHS
15:54008854-54008854 C>T	0.0	3881	MELANOMA	-	-	-	-	WDR72	NM_182758,p.G97R|ENST00000396328,p.G97R|uc002acj.2,p.G97R|uc031qse.1,p.G97R|ENST00000560036,p.G97R|ENST00000559418,p.G97R|ENST00000360509,p.G97R|ENST00000557913,p.G97R|uc010bfi.1,p.G97R	protein_coding, processed_transcript	uc031qse.1	nonsynonymous SNV	exon4	c.G289A	p.G97R	ENGEMCVWNVTNGQCMEKATLPYRH	ENGEMCVWNVTNRQCMEKATLPYRH	1.0	8.0	unscreened	-	3881_15:54008854-54008854 C>T_ENGEMCVWNVTNRQCMEKATLPYRH
7:139655319-139655319 T>A	0.0	3881	MELANOMA	-	-	-	-	TBXAS1	uc011kqv.2,p.S248T|NM_001166254,p.S134T|NM_030984,p.S202T|ENST00000414508,p.S202T|NM_001130966,p.S202T|NM_001061,p.S202T|ENST00000458722,p.S247T|uc003vvh.3,p.S202T|NM_001166253,p.S248T|ENST00000336425,p.S201T|ENST00000436047,p.S202T|ENST00000425687,p.S134T|ENST00000411653,p.S201T|uc010lne.3,p.S134T|uc011kqw.2,p.S182T|uc011kqu.2,p.S153T|uc003vvi.3,p.S202T|ENST00000416849,p.S248T|ENST00000448866,p.S201T|uc003vvj.3,p.S202T|ENST00000263552,p.S202T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kqw.2	nonsynonymous SNV	exon7	c.T544A	p.S182T	VVASVAFGTPVDSWQAPEDPFVKHC	VVASVAFGTPVDTWQAPEDPFVKHC	5.0	9.0	unscreened	-	3881_7:139655319-139655319 T>A_VVASVAFGTPVDTWQAPEDPFVKHC
10:61926585-61926585 C>T	0.0	3881	MELANOMA	-	-	-	-	ANK3	uc001jlc.1,p.E511K|uc001jlb.1,p.E379K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jlc.1	nonsynonymous SNV	exon13	c.G1531A	p.E511K	ETMNEVLDMSDDEGEDAMTGDTDKY	ETMNEVLDMSDDKGEDAMTGDTDKY	3.0	1.0	unscreened	-	3881_10:61926585-61926585 C>T_ETMNEVLDMSDDKGEDAMTGDTDKY
9:32633822-32633822 G>A	0.0	3881	MELANOMA	-	-	-	-	TAF1L	ENST00000242310,p.L586F|uc003zrg.1,p.L586F|NM_153809,p.L586F	protein_coding	uc003zrg.1	nonsynonymous SNV	exon1	c.C1756T	p.L586F	NMSQPEVKDPWNLSNDEYYFPKQQG	NMSQPEVKDPWNFSNDEYYFPKQQG	1.0	8.0	unscreened	-	3881_9:32633822-32633822 G>A_NMSQPEVKDPWNFSNDEYYFPKQQG
22:50581636-50581636 G>A	0.0	3881	MELANOMA	-	-	-	-	MOV10L1	uc003bjk.4,p.E782K|ENST00000540615,p.E762K|ENST00000262794,p.E782K|ENST00000395858,p.E782K|NM_001164104,p.E782K|uc003bjj.3,p.E782K|NM_001164105,p.E762K|NM_018995,p.E782K|ENST00000545383,p.E782K|uc011arp.2,p.E762K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011arp.2	nonsynonymous SNV	exon17	c.G2284A	p.E762K	GPPGTGKTVTIIEAVLQVHFALPDS	GPPGTGKTVTIIKAVLQVHFALPDS	1.0	6.0	unscreened	-	3881_22:50581636-50581636 G>A_GPPGTGKTVTIIKAVLQVHFALPDS
17:10303869-10303869 C>T	0.0	3881	MELANOMA	-	-	-	-	MYH8	uc002gmm.2,p.M1191I|ENST00000403437,p.M1191I|NM_002472,p.M1191I	protein_coding	uc002gmm.2	nonsynonymous SNV	exon27	c.G3573A	p.M1191I	RDLEEATLQHEAMVAALRKKHADSM	RDLEEATLQHEAIVAALRKKHADSM	1.0	6.0	unscreened	-	3881_17:10303869-10303869 C>T_RDLEEATLQHEAIVAALRKKHADSM
11:47360149-47360149 C>T	0.0	3881	MELANOMA	-	-	-	-	MYBPC3	ENST00000545968,p.E744K|ENST00000399249,p.E744K|NM_000256,p.E744K|uc021qis.1,p.E744K|ENST00000256993,p.E743K|ENST00000544791,p.E744K	protein_coding, nonsense_mediated_decay	uc021qis.1	nonsynonymous SNV	exon23	c.G2230A	p.E744K	DRSIFTVEGAEKEDEGVYTVTVKNP	DRSIFTVEGAEKKDEGVYTVTVKNP	1.0	9.0	unscreened	-	3881_11:47360149-47360149 C>T_DRSIFTVEGAEKKDEGVYTVTVKNP
8:1497028-1497028 C>T	0.0	3881	MELANOMA	-	-	-	-	DLGAP2	NM_001277161,p.P57S|uc003wpl.4,p.P57S|ENST00000421627,p.P57S|uc003wpm.4,p.P57S|NM_004745,p.P57S	retained_intron, protein_coding, processed_transcript	uc003wpm.4	nonsynonymous SNV	exon2	c.C169T	p.P57S	ADSCPGGRHRCSPRSSVHSECVMMP	ADSCPGGRHRCSSRSSVHSECVMMP	2.0	6.0	unscreened	-	3881_8:1497028-1497028 C>T_ADSCPGGRHRCSSRSSVHSECVMMP
18:3879336-3879336 C>T	0.0	3881	MELANOMA	-	-	-	-	DLGAP1	NM_004746,p.E245K|NM_001242761,p.E245K|ENST00000315677,p.E245K|uc010wyz.2,p.E245K|uc002kmk.2,p.E245K|ENST00000515196,p.E245K|ENST00000584874,p.E245K|uc002kmf.3,p.E245K|ENST00000581527,p.E245K	protein_coding, processed_transcript	uc010wyz.2	nonsynonymous SNV	exon4	c.G733A	p.E245K	SQYFLEAYNTISEQAVKASRSNNDV	SQYFLEAYNTISKQAVKASRSNNDV	1.0	9.0	unscreened	-	3881_18:3879336-3879336 C>T_SQYFLEAYNTISKQAVKASRSNNDV
14:24884055-24884055 C>T	0.0	3881	MELANOMA	-	-	-	-	NYNRIN	ENST00000382554,p.L1034F|uc001wpf.4,p.L1034F|NM_025081,p.L1034F	protein_coding, processed_transcript	uc001wpf.4	nonsynonymous SNV	exon9	c.C3100T	p.L1034F	SLASVFRVECPSLSEEILRCLSLHD	SLASVFRVECPSFSEEILRCLSLHD	3.0	6.0	unscreened	-	3881_14:24884055-24884055 C>T_SLASVFRVECPSFSEEILRCLSLHD
12:103240729-103240729 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1706141;OCCURENCE=1(skin)	-	PAH	ENST00000307000,p.E300K|NM_000277,p.E305K|ENST00000553106,p.E305K|uc001tjq.1,p.E305K	retained_intron, protein_coding, processed_transcript	uc001tjq.1	nonsynonymous SNV	exon9	c.G913A	p.E305K	LFSDRSFAQFSQEIGLASLGAPDEY	LFSDRSFAQFSQKIGLASLGAPDEY	1.0	4.0	unscreened	-	3881_12:103240729-103240729 C>T_LFSDRSFAQFSQKIGLASLGAPDEY
12:55420464-55420464 C>T	0.0	3881	MELANOMA	-	-	-	-	NEUROD4	NM_021191,p.R81C|uc021qyr.1,p.R81C|ENST00000242994,p.R81C|uc001sgp.4,p.R81C	protein_coding	uc021qyr.1	nonsynonymous SNV	exon1	c.C241T	p.R81C	RRGPKKKKMTKARLERFRARRVKAN	RRGPKKKKMTKACLERFRARRVKAN	1.0	4.0	unscreened	-	3881_12:55420464-55420464 C>T_RRGPKKKKMTKACLERFRARRVKAN
X:73740906-73740906 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC16A2	ENST00000276033,p.R245Q|NM_006517,p.R171Q|ENST00000587091,p.R171Q|uc031tjy.1,p.R171Q	protein_coding	uc031tjy.1	nonsynonymous SNV	exon2	c.G512A	p.R171Q	PIVSIFTDRLGCRITATAGAAVAFI	PIVSIFTDRLGCQITATAGAAVAFI	4.0	8.0	unscreened	-	3881_X:73740906-73740906 G>A_PIVSIFTDRLGCQITATAGAAVAFI
7:123296057-123296057 G>A	0.0	3881	MELANOMA	-	-	ID=COSM3381784;OCCURENCE=1(pancreas)	-	LMOD2	ENST00000456238,p.E14K|NM_207163,p.E14K|ENST00000458573,p.E14K|uc003vky.2,p.E14K	protein_coding	uc003vky.2	nonsynonymous SNV	exon1	c.G40A	p.E14K	STFGYRRGLSKYESIDEDELLASLS	STFGYRRGLSKYKSIDEDELLASLS	1.0	9.0	unscreened	-	3881_7:123296057-123296057 G>A_STFGYRRGLSKYKSIDEDELLASLS
20:2384268-2384268 G>A	0.0	3881	MELANOMA	-	-	-	-	TGM6	uc002wfy.1,p.E379K|ENST00000381423,p.E379K|NM_001254734,p.E379K|NM_198994,p.E379K|uc010gal.1,p.E379K|ENST00000202625,p.E379K	protein_coding, processed_transcript	uc010gal.1	nonsynonymous SNV	exon9	c.G1135A	p.E379K	FRCGPASVTAIREGDVHLAHDGPFV	FRCGPASVTAIRKGDVHLAHDGPFV	1.0	2.0	unscreened	-	3881_20:2384268-2384268 G>A_FRCGPASVTAIRKGDVHLAHDGPFV
7:150695665-150695665 G>A	0.0	3881	MELANOMA	-	-	-	-	NOS3	uc003wif.3,p.R238Q|ENST00000297494,p.R238Q|uc011kuy.2,p.R32Q|ENST00000467517,p.R238Q|NM_000603,p.R238Q|NM_001160110,p.R238Q|ENST00000461406,p.R32Q|NM_001160111,p.R238Q|NM_001160109,p.R238Q|uc011kvb.2,p.R238Q|uc011kuz.2,p.R238Q|ENST00000484524,p.R238Q|uc011kva.2,p.R238Q	retained_intron, protein_coding, processed_transcript	uc011kvb.2	nonsynonymous SNV	exon6	c.G713A	p.R238Q	SAITVFPQRCPGRGDFRIWNSQLVR	SAITVFPQRCPGQGDFRIWNSQLVR	5.0	5.0	unscreened	-	3881_7:150695665-150695665 G>A_SAITVFPQRCPGQGDFRIWNSQLVR
17:32955704-32955704 C>T	0.0	3881	MELANOMA	-	-	-	-	TMEM132E	NM_207313,p.A284V|ENST00000321639,p.A284V|uc002hif.3,p.A284V	retained_intron, protein_coding	uc002hif.3	nonsynonymous SNV	exon4	c.C851T	p.A284V	AKHSTATVDVAWAQSTPLPPREGQG	AKHSTATVDVAWVQSTPLPPREGQG	1.0	8.0	unscreened	-	3881_17:32955704-32955704 C>T_AKHSTATVDVAWVQSTPLPPREGQG
8:11405581-11405581 G>A	0.0	3881	MELANOMA	-	-	-	-	BLK	uc003wty.3,p.M72I|NM_001715,p.M72I|ENST00000259089,p.M72I	retained_intron, protein_coding, processed_transcript	uc003wty.3	nonsynonymous SNV	exon4	c.G216A	p.M72I	KHFVVALYDYTAMNDRDLQMLKGEK	KHFVVALYDYTAINDRDLQMLKGEK	4.0	3.0	unscreened	-	3881_8:11405581-11405581 G>A_KHFVVALYDYTAINDRDLQMLKGEK
X:76937773-76937773 T>C	1.0	3881	MELANOMA	-	-	-	1	ATRX	NM_138270,p.K954R|uc004ecr.2,p.K924R|uc004ecp.4,p.K992R|uc004eco.4,p.K777R|ENST00000373344,p.K992R|NM_000489,p.K992R|uc010nlx.1,p.K963R|ENST00000395603,p.K954R|uc004ecq.4,p.K954R|uc010nly.1,p.K937R	protein_coding, processed_transcript	uc010nly.1	nonsynonymous SNV	exon8	c.A2810G	p.K937R	DDKKQSKKGTEEKKKPSDFKKKVIK	DDKKQSKKGTEERKKPSDFKKKVIK	9.0	6.0	unscreened	-	3881_X:76937773-76937773 T>C_DDKKQSKKGTEERKKPSDFKKKVIK
3:16217080-16217080 G>A	0.0	3881	MELANOMA	-	-	-	-	GALNT15	ENST00000437509,p.G141E|ENST00000339732,p.G141E|uc003car.4,p.G141E|NM_054110,p.G141E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003car.4	nonsynonymous SNV	exon1	c.G422A	p.G141E	EAPKRDWGADEDGEVSEEEELTPFS	EAPKRDWGADEDEEVSEEEELTPFS	3.0	1.0	unscreened	-	3881_3:16217080-16217080 G>A_EAPKRDWGADEDEEVSEEEELTPFS
10:61926585-61926585 C>T	0.0	3881	MELANOMA	-	-	-	-	ANK3	ENST00000460468,p.E17K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000460468	nonsynonymous SNV	exon1	c.G49A	p.E17K	ETMNEVLDMSDDEGNRCTWYKIPKV	ETMNEVLDMSDDKGNRCTWYKIPKV	3.0	1.0	unscreened	-	3881_10:61926585-61926585 C>T_ETMNEVLDMSDDKGNRCTWYKIPKV
2:207424766-207424766 C>T	0.0	3881	MELANOMA	-	-	-	-	ADAM23	uc002vbq.4,p.P365S|NM_003812,p.P365S|ENST00000264377,p.P365S|ENST00000374416,p.P365S|ENST00000374415,p.P365S	protein_coding	uc002vbq.4	nonsynonymous SNV	exon11	c.C1093T	p.P365S	WTEKDQIDITTNPVQMLHEFSKYRQ	WTEKDQIDITTNSVQMLHEFSKYRQ	3.0	3.0	unscreened	-	3881_2:207424766-207424766 C>T_WTEKDQIDITTNSVQMLHEFSKYRQ
4:183574987-183574987 G>A	0.0	3881	MELANOMA	-	-	-	-	TENM3	ENST00000406950,p.G351E|uc003ivd.1,p.G351E|NM_001080477,p.G351E|ENST00000511685,p.G351E	retained_intron, protein_coding, processed_transcript	uc003ivd.1	nonsynonymous SNV	exon5	c.G1052A	p.G351E	QLQQTENDTFENGKVNSDTMPTNTV	QLQQTENDTFENEKVNSDTMPTNTV	4.0	1.0	unscreened	-	3881_4:183574987-183574987 G>A_QLQQTENDTFENEKVNSDTMPTNTV
8:67066283-67066283 G>A	0.0	3881	MELANOMA	-	-	-	-	TRIM55	NM_033058,p.G413E|uc003xvu.3,p.G413E|NM_184085,p.G413E|ENST00000276573,p.G413E|ENST00000315962,p.G413E|uc003xvv.3,p.G413E	retained_intron, protein_coding	uc003xvv.3	nonsynonymous SNV	exon9	c.G1238A	p.G413E	ALPPAADAPVTQGEVVPTGSEQTTE	ALPPAADAPVTQEEVVPTGSEQTTE	1.0	8.0	unscreened	-	3881_8:67066283-67066283 G>A_ALPPAADAPVTQEEVVPTGSEQTTE
12:52307360-52307360 G>A	0.0	3881	MELANOMA	-	-	-	-	ACVRL1	uc001rzk.3,p.E111K|ENST00000388922,p.E111K|NM_001077401,p.E111K|uc001rzj.3,p.E111K|NM_000020,p.E111K|ENST00000550683,p.E125K	retained_intron, protein_coding, processed_transcript	uc001rzk.3	nonsynonymous SNV	exon3	c.G331A	p.E111K	VSLVLEATQPPSEQPGTDGQLALIL	VSLVLEATQPPSKQPGTDGQLALIL	5.0	9.0	unscreened	-	3881_12:52307360-52307360 G>A_VSLVLEATQPPSKQPGTDGQLALIL
19:17780473-17780473 C>T	0.0	3881	MELANOMA	-	-	-	-	UNC13A	ENST00000551649,p.E95K|ENST00000519716,p.E95K|uc031rjw.1,p.E95K|NM_001080421,p.E95K|uc031rjv.1,p.E95K|ENST00000550896,p.E95K|ENST00000252773,p.E95K|ENST00000552293,p.E95K|ENST00000428389,p.E183K	retained_intron, protein_coding	uc031rjw.1	nonsynonymous SNV	exon5	c.G283A	p.E95K	RTIRQSNEEGPGEWLTLDSQVIMAD	RTIRQSNEEGPGKWLTLDSQVIMAD	3.0	8.0	unscreened	-	3881_19:17780473-17780473 C>T_RTIRQSNEEGPGKWLTLDSQVIMAD
1:177250143-177250143 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1689271;OCCURENCE=1(skin)	-	BRINP2	ENST00000361539,p.P611S|NM_021165,p.P611S|uc001glf.3,p.P611S|uc001glg.3,p.P506S	protein_coding, processed_transcript	uc001glg.3	nonsynonymous SNV	exon5	c.C1516T	p.P506S	ESWFMPVNEGSFPDWERTNVDAAAQ	ESWFMPVNEGSFSDWERTNVDAAAQ	1.0	3.0	unscreened	-	3881_1:177250143-177250143 C>T_ESWFMPVNEGSFSDWERTNVDAAAQ
12:53291316-53291316 T>G	0.0	3881	MELANOMA	-	-	-	-	KRT8	uc009zmk.1,p.S478R|NM_001256293,p.S450R|ENST00000552150,p.S478R|ENST00000552551,p.S450R|uc009zml.2,p.S450R|ENST00000546897,p.S450R|ENST00000293308,p.S450R|uc001sbd.2,p.S450R|NM_001256282,p.S478R|NM_002273,p.S450R|uc009zmm.2,p.S450R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zmm.2	nonsynonymous SNV	exon9	c.A1348C	p.S450R	SLGSSFGSGAGSSSFSRTSSSRAVV	SLGSSFGSGAGSRSFSRTSSSRAVV	6.0	7.0	unscreened	-	3881_12:53291316-53291316 T>G_SLGSSFGSGAGSRSFSRTSSSRAVV
19:10405290-10405290 C>T	0.0	3881	MELANOMA	-	-	-	-	ICAM5	uc002mnv.4,p.S610F|ENST00000221980,p.S735F|NM_003259,p.S735F|uc002mnu.4,p.S735F	retained_intron, protein_coding, processed_transcript	uc002mnv.4	nonsynonymous SNV	exon7	c.C1829T	p.S610F	YHCVATNAHGTDSRTVTVGVEYRPV	YHCVATNAHGTDFRTVTVGVEYRPV	3.0	5.0	unscreened	-	3881_19:10405290-10405290 C>T_YHCVATNAHGTDFRTVTVGVEYRPV
5:52189528-52189528 G>A	1.0	3881	MELANOMA	-	-	ID=COSM139576;OCCURENCE=1(skin)	-	ITGA1	NM_181501,p.G316E|uc003jou.3,p.G316E|ENST00000282588,p.G316E	retained_intron, protein_coding, processed_transcript	uc003jou.3	nonsynonymous SNV	exon9	c.G947A	p.G316E	RFSIAILGSYNRGNLSTEKFVEEIK	RFSIAILGSYNRENLSTEKFVEEIK	7.0	7.0	-	-	3881_5:52189528-52189528 G>A_RFSIAILGSYNRENLSTEKFVEEIK
4:36212334-36212334 C>T	1.0	3881	MELANOMA	-	-	-	-	ARAP2	ENST00000303965,p.E389K|NM_015230,p.E389K|uc003gsr.1,p.E389K|uc003gsq.2,p.E389K	retained_intron, protein_coding, processed_transcript	uc003gsr.1	nonsynonymous SNV	exon6	c.G1165A	p.E389K	SSIYDNRKEKISEDKVEDIWIPRED	SSIYDNRKEKISKDKVEDIWIPRED	6.0	9.0	-	-	3881_4:36212334-36212334 C>T_SSIYDNRKEKISKDKVEDIWIPRED
X:138680593-138680593 C>T	0.0	3881	MELANOMA	-	-	-	-	MCF2	ENST00000370576,p.R634Q|NM_001171879,p.R650Q|NM_001171878,p.R634Q|ENST00000338585,p.R650Q|ENST00000414978,p.R694Q|ENST00000370578,p.R779Q|NM_001171877,p.R595Q|ENST00000446225,p.R237Q|ENST00000519895,p.R710Q|uc011mwo.1,p.R710Q|NM_005369,p.R634Q|NM_001171876,p.R710Q|uc011mwl.2,p.R611Q|uc004fau.3,p.R634Q|ENST00000536274,p.R595Q|ENST00000520602,p.R694Q|uc011mwm.2,p.R595Q|uc004fav.3,p.R650Q|uc011mwn.1,p.R779Q|ENST00000370573,p.R634Q|uc004faw.2,p.R694Q|NM_001099855,p.R694Q|uc010nsh.2,p.R634Q	protein_coding, processed_transcript	uc011mwo.1	nonsynonymous SNV	exon21	c.G2129A	p.R710Q	LRLDSYLLKPVQRITKYQLLLKELL	LRLDSYLLKPVQQITKYQLLLKELL	1.0	7.0	unscreened	-	3881_X:138680593-138680593 C>T_LRLDSYLLKPVQQITKYQLLLKELL
4:48178155-48178155 C>T	1.0	3881	MELANOMA	-	-	-	2	TEC	ENST00000381501,p.E63K|NM_003215,p.E63K|ENST00000505452,p.E63K|uc003gxz.3,p.E63K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gxz.3	nonsynonymous SNV	exon3	c.G187A	p.E63K	KGFIDVSKIKCVEIVKNDDGVIPCQ	KGFIDVSKIKCVKIVKNDDGVIPCQ	6.0	8.0	unscreened	-	3881_4:48178155-48178155 C>T_KGFIDVSKIKCVKIVKNDDGVIPCQ
3:108705748-108705748 C>T	0.0	3881	MELANOMA	-	-	-	-	MORC1	ENST00000232603,p.E746K|uc011bhn.2,p.E725K|NM_014429,p.E746K|uc003dxl.3,p.E746K|ENST00000483760,p.E725K	protein_coding	uc011bhn.2	nonsynonymous SNV	exon21	c.G2173A	p.E725K	SNTDVSLKQEKKEIPLLNQEKQELC	SNTDVSLKQEKKKIPLLNQEKQELC	1.0	9.0	unscreened	-	3881_3:108705748-108705748 C>T_SNTDVSLKQEKKKIPLLNQEKQELC
12:11546785-11546785 C>T	0.0	3881	MELANOMA	-	-	-	-	PRB2	uc010shk.1,p.G76E|ENST00000389362,p.G76E|NM_006248,p.G76E	protein_coding, processed_transcript	uc010shk.1	nonsynonymous SNV	exon3	c.G227A	p.G76E	GGNQPQGPPPPPGKPQGPPPQGGNK	GGNQPQGPPPPPEKPQGPPPQGGNK	1.0	1.0	unscreened	-	3881_12:11546785-11546785 C>T_GGNQPQGPPPPPEKPQGPPPQGGNK
20:34809855-34809855 G>A	0.0	3881	MELANOMA	-	-	-	-	EPB41L1	uc002xeu.3,p.D735N|uc002xew.3,p.D728N|NM_001258331,p.D735N|NM_177996,p.D735N|ENST00000373950,p.D728N|uc002xex.3,p.D657N|ENST00000441639,p.D735N|ENST00000373946,p.D657N|uc002xey.3,p.D587N|NM_001258330,p.D657N|NM_012156,p.D837N|NM_001258329,p.D836N|ENST00000338074,p.D837N|uc002xev.3,p.D836N|uc002xfb.3,p.D837N|ENST00000373941,p.D836N|uc002xez.4,p.D735N|ENST00000202028,p.D735N|uc010gfq.3,p.D935N	protein_coding, processed_transcript	uc010gfq.3	nonsynonymous SNV	exon10	c.G2803A	p.D935N	EKRIIITGDEDVDQDQALALAIKEA	EKRIIITGDEDVNQDQALALAIKEA	6.0	8.0	unscreened	-	3881_20:34809855-34809855 G>A_EKRIIITGDEDVNQDQALALAIKEA
7:100681827-100681827 C>T	0.0	3881	MELANOMA	-	-	-	-	MUC17	ENST00000306151,p.S2377L|uc003uxp.1,p.S2377L|ENST00000379439,p.S2377L|NM_001040105,p.S2377L	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C7130T	p.S2377L	TSTPVTTYSQAGSSPTTADDTSMPT	TSTPVTTYSQAGLSPTTADDTSMPT	1.0	6.0	unscreened	-	3881_7:100681827-100681827 C>T_TSTPVTTYSQAGLSPTTADDTSMPT
19:9048200-9048200 A>G	0.0	3881	MELANOMA	-	-	-	2	MUC16	NM_024690,p.V11144A|ENST00000397910,p.V11144A|uc002mkp.3,p.V11144A	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon5	c.T33431C	p.V11144A	SHGVEASSAVLTVSPEVPGMVTSLV	SHGVEASSAVLTASPEVPGMVTSLV	1.0	4.0	unscreened	-	3881_19:9048200-9048200 A>G_SHGVEASSAVLTASPEVPGMVTSLV
10:62023723-62023723 G>A	0.0	3881	MELANOMA	-	-	ID=COSM223406;OCCURENCE=1(skin)	-	ANK3	ENST00000373827,p.S184L|uc001jky.3,p.S190L|uc001jkz.4,p.S184L|NM_001204404,p.S173L|ENST00000503925,p.S164L|ENST00000280772,p.S190L|uc010qih.2,p.S173L|NM_001204403,p.S184L|ENST00000503366,p.S173L|NM_020987,p.S190L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qih.2	nonsynonymous SNV	exon6	c.C518T	p.S173L	AVALQQGHDQVVSLLLENDTKGKVR	AVALQQGHDQVVLLLLENDTKGKVR	3.0	2.0	unscreened	-	3881_10:62023723-62023723 G>A_AVALQQGHDQVVLLLLENDTKGKVR
2:70923465-70923465 C>T	0.0	3881	MELANOMA	-	-	-	-	ADD2	ENST00000425976,p.G129E|NM_001185055,p.G145E|ENST00000355733,p.G129E|ENST00000403045,p.G129E|ENST00000522886,p.G129E|NM_017482,p.G129E|uc002sgz.3,p.G129E|NM_017488,p.G129E|uc002sgy.3,p.G129E|ENST00000264436,p.G129E|ENST00000456320,p.G129E|uc010fdu.2,p.G145E|uc010fdt.2,p.G129E|ENST00000415348,p.G129E|ENST00000407644,p.G129E|uc002shc.2,p.G129E|ENST00000413157,p.G129E|uc021vjc.1,p.G129E|NM_001185054,p.G129E|ENST00000430656,p.G145E|NM_001617,p.G129E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vjc.1	nonsynonymous SNV	exon5	c.G386A	p.G129E	DLHTADSLNLAKGERLMRCKISSVY	DLHTADSLNLAKEERLMRCKISSVY	3.0	2.0	unscreened	-	3881_2:70923465-70923465 C>T_DLHTADSLNLAKEERLMRCKISSVY
4:8293261-8293261 G>A	0.0	3881	MELANOMA	-	-	-	-	HTRA3	NM_053044,p.M291I|uc003gla.3,p.M291I|uc003gkz.3,p.M291I|ENST00000307358,p.M291I|ENST00000382512,p.M291I|NM_001297559,p.M291I	protein_coding	uc003gla.3	nonsynonymous SNV	exon4	c.G873A	p.M291I	REGRELGLRDSDMDYIQTDAIINYG	REGRELGLRDSDIDYIQTDAIINYG	4.0	7.0	unscreened	-	3881_4:8293261-8293261 G>A_REGRELGLRDSDIDYIQTDAIINYG
11:70332914-70332914 C>T	0.0	3881	MELANOMA	-	-	-	-	SHANK2	ENST00000338508,p.E1163K|ENST00000423696,p.E783K|ENST00000294018,p.E786K|ENST00000449833,p.E567K|uc001opz.3,p.E567K|ENST00000424924,p.E441K|NM_133266,p.E574K|ENST00000409161,p.E566K	protein_coding, processed_transcript	uc001opz.3	nonsynonymous SNV	exon9	c.G1699A	p.E567K	PREPENHFVGGAEASAPGEAGRPLN	PREPENHFVGGAKASAPGEAGRPLN	1.0	6.0	unscreened	-	3881_11:70332914-70332914 C>T_PREPENHFVGGAKASAPGEAGRPLN
14:79270040-79270040 G>A	0.0	3881	MELANOMA	-	-	-	-	NRXN3	ENST00000554738,p.D706N|uc001xun.4,p.D335N|NM_004796,p.D335N|ENST00000335750,p.D335N|ENST00000554719,p.D335N|uc010asv.1,p.D469N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010asv.1	nonsynonymous SNV	exon6	c.G1405A	p.D469N	IIMPMVMHTEAEDVSFRFMSQRAYG	IIMPMVMHTEAENVSFRFMSQRAYG	4.0	6.0	unscreened	-	3881_14:79270040-79270040 G>A_IIMPMVMHTEAENVSFRFMSQRAYG
8:139155261-139155261 C>T	0.0	3881	MELANOMA	-	-	ID=COSM320246,COSM320247;OCCURENCE=2(large_intestine),1(lung)	2	FAM135B	NM_015912,p.R1211Q|ENST00000395297,p.R1211Q|uc003yuy.3,p.R1211Q|uc003yux.3,p.R1112Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yuy.3	nonsynonymous SNV	exon16	c.G3632A	p.R1211Q	IQHIQLYNLSISRISFIGHSLGNII	IQHIQLYNLSISQISFIGHSLGNII	1.0	6.0	unscreened	-	3881_8:139155261-139155261 C>T_IQHIQLYNLSISQISFIGHSLGNII
15:90281397-90281397 G>A	0.0	3881	MELANOMA	-	-	-	-	WDR93	ENST00000268130,p.D631N|NM_020212,p.D631N|NM_001284395,p.D603N|uc002boj.3,p.D631N|ENST00000560294,p.D603N|uc010bnr.3,p.D603N|ENST00000444934,p.D348N|uc010upz.2,p.D348N	protein_coding	uc010upz.2	nonsynonymous SNV	exon10	c.G1042A	p.D348N	ENISKNCTIPQRDLDNMAFPQALPL	ENISKNCTIPQRNLDNMAFPQALPL	3.0	8.0	unscreened	-	3881_15:90281397-90281397 G>A_ENISKNCTIPQRNLDNMAFPQALPL
6:28540881-28540881 C>T	0.0	3881	MELANOMA	-	-	-	-	ZBED9	NM_052923,p.E929K|uc003nlo.3,p.E929K|ENST00000452236,p.E929K	protein_coding, processed_transcript	uc003nlo.3	nonsynonymous SNV	exon4	c.G2785A	p.E929K	VYVRFEHDDDIKEEFFFSASLPTNT	VYVRFEHDDDIKKEFFFSASLPTNT	1.0	3.0	unscreened	-	3881_6:28540881-28540881 C>T_VYVRFEHDDDIKKEFFFSASLPTNT
1:47582358-47582358 G>A	0.0	3881	MELANOMA	-	-	-	-	CYP4Z1	NM_178134,p.E435K|ENST00000334194,p.E435K|uc001cqu.1,p.E435K	protein_coding, processed_transcript	uc001cqu.1	nonsynonymous SNV	exon11	c.G1303A	p.E435K	VFNPLRFSRENSEKIHPYAFIPFSA	VFNPLRFSRENSKKIHPYAFIPFSA	1.0	4.0	unscreened	-	3881_1:47582358-47582358 G>A_VFNPLRFSRENSKKIHPYAFIPFSA
1:158262080-158262080 A>G	0.0	3881	MELANOMA	-	-	-	-	CD1C	uc001fru.3,p.N179D|ENST00000368170,p.N179D|NM_001765,p.N179D	protein_coding	uc001fru.3	nonsynonymous SNV	exon3	c.A535G	p.N179D	NHQYEGVTETVYNLIRSTCPRFLLG	NHQYEGVTETVYDLIRSTCPRFLLG	4.0	2.0	unscreened	-	3881_1:158262080-158262080 A>G_NHQYEGVTETVYDLIRSTCPRFLLG
2:152548623-152548623 C>-	0.0	3881	MELANOMA	-	-	-	-	NEB	uc031rpp.1,p.E686fs|ENST00000603639,p.E686fs|uc010fny.2,p.E240fs|uc002txu.3,p.E686fs|NM_001164508,p.E686fs|ENST00000427231,p.E686fs|ENST00000397345,p.E686fs|ENST00000172853,p.E686fs|uc010fnx.3,p.E686fs|ENST00000409198,p.E686fs|uc021vrb.1,p.E686fs|NM_004543,p.E686fs|uc021vrd.1,p.E686fs|NM_001164507,p.E686fs|uc021vrc.1,p.E686fs|ENST00000604864,p.E686fs|NM_001271208,p.E686fs	retained_intron, protein_coding, processed_transcript	uc031rpp.1	frameshift deletion	exon22	c.2056delG	p.E686fs	VKDVLGHYVGSMEDPYHTHCMKVAA	VKDVLGHYVGSMRTHITHTA	3.0	7.0	unscreened	-	3881_2:152548623-152548623 C>-_VKDVLGHYVGSMRTHITHTA
X:139866330-139866330 C>T	0.0	3881	MELANOMA	-	-	-	-	CDR1	ENST00000370532,p.D68N|uc004fbg.1,p.D68N|NM_004065,p.D68N	protein_coding	uc004fbg.1	nonsynonymous SNV	exon1	c.G202A	p.D68N	DLLEDTDFLEDLDFSEAMDLREDKD	DLLEDTDFLEDLNFSEAMDLREDKD	1.0	5.0	unscreened	-	3881_X:139866330-139866330 C>T_DLLEDTDFLEDLNFSEAMDLREDKD
3:115395130-115395130 C>T	0.0	3881	MELANOMA	-	-	-	-	GAP43	NM_002045,p.P101S|uc003ebr.2,p.P137S|ENST00000305124,p.P101S|ENST00000393780,p.P137S|NM_001130064,p.P137S|uc003ebq.2,p.P101S	protein_coding	uc003ebr.2	nonsynonymous SNV	exon3	c.C409T	p.P137S	EAAPATGSKPDEPGKAGETPSEEKK	EAAPATGSKPDESGKAGETPSEEKK	1.0	1.0	unscreened	-	3881_3:115395130-115395130 C>T_EAAPATGSKPDESGKAGETPSEEKK
X:96139980-96139980 G>A	0.0	3881	MELANOMA	-	-	-	-	RPA4	NM_013347,p.R224Q|uc004efv.4,p.R224Q|ENST00000373040,p.R224Q	protein_coding	uc004efv.4	nonsynonymous SNV	exon1	c.G671A	p.R224Q	CPHQEGKSIHELRAQLCDLSVKAIK	CPHQEGKSIHELQAQLCDLSVKAIK	1.0	8.0	unscreened	-	3881_X:96139980-96139980 G>A_CPHQEGKSIHELQAQLCDLSVKAIK
2:191903933-191903933 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1014165;OCCURENCE=1(skin),1(endometrium)	-	STAT4	uc002usn.2,p.D476N|ENST00000358470,p.D476N|uc002uso.2,p.D476N|NM_003151,p.D476N|uc010zgk.1,p.D321N|uc002usm.2,p.D476N|ENST00000392320,p.D476N|NM_001243835,p.D476N	retained_intron, protein_coding, processed_transcript	uc010zgk.1	nonsynonymous SNV	exon11	c.G961A	p.D321N	WASIIWYNVSTNDSQNLVFFNNPPP	WASIIWYNVSTNNSQNLVFFNNPPP	5.0	2.0	unscreened	-	3881_2:191903933-191903933 C>T_WASIIWYNVSTNNSQNLVFFNNPPP
3:42448440-42448440 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1642258;OCCURENCE=1(stomach),1(skin)	-	LYZL4	ENST00000287748,p.E64K|ENST00000441172,p.E64K|NM_144634,p.E64K|uc003cle.3,p.E64K	protein_coding, processed_transcript	uc003cle.3	nonsynonymous SNV	exon3	c.G190A	p.E64K	YFESKFNPMAIYENTREGYTGFGLF	YFESKFNPMAIYKNTREGYTGFGLF	1.0	9.0	unscreened	-	3881_3:42448440-42448440 C>T_YFESKFNPMAIYKNTREGYTGFGLF
4:103853286-103853286 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC9B1	NM_139173,p.S275F|ENST00000296422,p.S275F|NM_001100874,p.S275F|ENST00000394789,p.S275F|uc003hwu.3,p.S275F|uc010ilm.3,p.S42F|ENST00000514340,p.S218F|uc003hww.3,p.S275F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ilm.3	nonsynonymous SNV	exon6	c.C125T	p.S42F	ITGFNTCLSIVFSSGGILNNAIASI	ITGFNTCLSIVFFSGGILNNAIASI	2.0	7.0	unscreened	-	3881_4:103853286-103853286 G>A_ITGFNTCLSIVFFSGGILNNAIASI
7:123296286-123296286 G>A	0.0	3881	MELANOMA	-	-	-	-	LMOD2	ENST00000458573,p.G90E|uc003vky.2,p.G90E|NM_207163,p.G90E	protein_coding	uc003vky.2	nonsynonymous SNV	exon1	c.G269A	p.G90E	QKLLEKERLGECGKVAEDKEESEEE	QKLLEKERLGECEKVAEDKEESEEE	1.0	2.0	unscreened	-	3881_7:123296286-123296286 G>A_QKLLEKERLGECEKVAEDKEESEEE
19:54318212-54318212 C>T	0.0	3881	MELANOMA	-	-	-	-	NLRP12	ENST00000391773,p.G107E|uc002qcj.5,p.G107E|NM_001277126,p.G107E|ENST00000391772,p.G107E|ENST00000351894,p.G107E|ENST00000354278,p.G107E|ENST00000345770,p.G107E|NM_001277129,p.G107E|uc002qch.5,p.G107E|NM_144687,p.G107E|uc002qci.5,p.G107E|ENST00000391775,p.G107E|uc010eqx.4,p.G107E|ENST00000535162,p.G107E|ENST00000324134,p.G107E	retained_intron, protein_coding	uc010eqx.4	nonsynonymous SNV	exon2	c.G320A	p.G107E	VRDTPPGGPSSLGNQSTCLLEVSLV	VRDTPPGGPSSLENQSTCLLEVSLV	2.0	8.0	unscreened	-	3881_19:54318212-54318212 C>T_VRDTPPGGPSSLENQSTCLLEVSLV
19:56369615-56369615 G>A	0.0	3881	MELANOMA	-	-	-	-	NLRP4	uc002qmd.4,p.E286K|ENST00000587891,p.E211K|NM_134444,p.E286K|ENST00000346986,p.E286K|uc010etf.3,p.E117K|uc002qmf.3,p.E211K|ENST00000301295,p.E286K	protein_coding	uc010etf.3	nonsynonymous SNV	exon1	c.G349A	p.E117K	SLLIAIKPVCPKELRDQVTISEIYQ	SLLIAIKPVCPKKLRDQVTISEIYQ	1.0	4.0	unscreened	-	3881_19:56369615-56369615 G>A_SLLIAIKPVCPKKLRDQVTISEIYQ
13:24304504-24304504 G>A	0.0	3881	MELANOMA	-	-	-	-	MIPEP	uc001uox.4,p.L709F|ENST00000382172,p.L709F|NM_005932,p.L709F	protein_coding, processed_transcript	uc001uox.4	nonsynonymous SNV	exon19	c.C2125T	p.L709F	LVSDLDLDFETFLMDSE	LVSDLDLDFETFFMDSE	7.0	8.0	unscreened	-	3881_13:24304504-24304504 G>A_LVSDLDLDFETFFMDSE
17:36093746-36093746 G>A	0.0	3881	MELANOMA	-	-	-	-	HNF1B	NM_000458,p.L205F|uc010cve.1,p.L13F|uc002hok.4,p.L205F|ENST00000560016,p.L205F|ENST00000225893,p.L205F|uc021tvv.1,p.L205F	retained_intron, protein_coding	uc021tvv.1	nonsynonymous SNV	exon3	c.C613T	p.L205F	MTDKSSQDQLLFLFPEFSQQSHGPG	MTDKSSQDQLLFFFPEFSQQSHGPG	1.0	7.0	unscreened	-	3881_17:36093746-36093746 G>A_MTDKSSQDQLLFFFPEFSQQSHGPG
7:120387866-120387866 C>T	0.0	3881	MELANOMA	-	-	-	-	KCND2	ENST00000331113,p.S616F|uc003vjj.1,p.S616F|NM_012281,p.S616F	retained_intron, protein_coding	uc003vjj.1	nonsynonymous SNV	exon6	c.C1847T	p.S616F	PVTTPEGDDRPESPEYSGGNIVRVS	PVTTPEGDDRPEFPEYSGGNIVRVS	3.0	7.0	unscreened	-	3881_7:120387866-120387866 C>T_PVTTPEGDDRPEFPEYSGGNIVRVS
2:239025587-239025587 G>A	0.0	3881	MELANOMA	-	-	-	-	ESPNL	ENST00000343063,p.R300Q|NM_194312,p.R300Q|uc002vxq.4,p.R300Q	protein_coding, processed_transcript	uc002vxq.4	nonsynonymous SNV	exon5	c.G899A	p.R300Q	QTLVSHHVDPSLRDEDGYTAADLAE	QTLVSHHVDPSLQDEDGYTAADLAE	1.0	2.0	unscreened	-	3881_2:239025587-239025587 G>A_QTLVSHHVDPSLQDEDGYTAADLAE
1:94463550-94463550 C>T	0.0	3881	MELANOMA	-	-	-	-	ABCA4	uc001dqh.3,p.R2199K|ENST00000536513,p.R469K|ENST00000370225,p.R2199K|ENST00000535881,p.R318K|NM_000350,p.R2199K	protein_coding, processed_transcript	uc001dqh.3	nonsynonymous SNV	exon48	c.G6596A	p.R2199K	QFFQGNFPGSVQRERHYNMLQFQVS	QFFQGNFPGSVQKERHYNMLQFQVS	1.0	3.0	unscreened	-	3881_1:94463550-94463550 C>T_QFFQGNFPGSVQKERHYNMLQFQVS
19:10079081-10079081 G>A	0.0	3881	MELANOMA	-	-	-	-	COL5A3	NM_015719,p.P1432S|ENST00000264828,p.P1432S|uc002mmq.1,p.P1432S	retained_intron, protein_coding	uc002mmq.1	nonsynonymous SNV	exon59	c.C4294T	p.P1432S	KGDQGLPGVQGPPGPKGDPGPPGPI	KGDQGLPGVQGPSGPKGDPGPPGPI	5.0	2.0	unscreened	-	3881_19:10079081-10079081 G>A_KGDQGLPGVQGPSGPKGDPGPPGPI
X:92964984-92964984 C>T	0.0	3881	MELANOMA	-	-	ID=COSM160899;OCCURENCE=1(breast)	-	FAM133A	ENST00000322139,p.P189L|NM_001171111,p.P189L|uc022bzw.1,p.P189L|NM_001171109,p.P189L|uc004efr.2,p.P189L|uc022bzv.1,p.P189L|ENST00000355813,p.P189L|uc022bzu.1,p.P189L|NM_001171110,p.P189L|NM_173698,p.P189L|ENST00000538690,p.P189L|ENST00000332647,p.P189L|uc022bzx.1,p.P189L	protein_coding	uc022bzx.1	nonsynonymous SNV	exon1	c.C566T	p.P189L	SKKRKKSYPDDKPLSSESSSESDYE	SKKRKKSYPDDKLLSSESSSESDYE	6.0	2.0	unscreened	-	3881_X:92964984-92964984 C>T_SKKRKKSYPDDKLLSSESSSESDYE
19:58596539-58596539 G>A	1.0	3881	MELANOMA	-	-	-	-	ZSCAN18	NM_001145543,p.S349L|NM_001145542,p.S405L|uc002qrj.3,p.S348L|uc010yhs.1,p.S213L|uc010yht.1,p.S405L|NM_001145544,p.S213L|ENST00000433686,p.S246L|ENST00000601144,p.S349L|NM_023926,p.S349L|ENST00000600404,p.S405L|ENST00000421612,p.S213L|uc002qri.2,p.S349L|ENST00000240727,p.S349L|uc002qrh.2,p.S349L	retained_intron, protein_coding, processed_transcript	uc010yht.1	nonsynonymous SNV	exon7	c.C1214T	p.S405L	DPQDAESDSATGSQRQSVIQQPAPD	DPQDAESDSATGLQRQSVIQQPAPD	7.0	7.0	unscreened	-	3881_19:58596539-58596539 G>A_DPQDAESDSATGLQRQSVIQQPAPD
2:27121458-27121458 G>A	0.0	3881	MELANOMA	-	-	-	-	DPYSL5	uc002rhu.4,p.E31K|ENST00000431402,p.E31K|ENST00000450961,p.E31K|NM_001253724,p.E31K|uc002rhv.4,p.E31K|ENST00000434719,p.E31K|ENST00000288699,p.E31K|NM_001253723,p.E31K|ENST00000401478,p.E31K|NM_020134,p.E31K|uc021vev.1,p.E31K	retained_intron, protein_coding	uc021vev.1	nonsynonymous SNV	exon2	c.G91A	p.E31K	NDDCTHEADVYIENGIIQQVGRELM	NDDCTHEADVYIKNGIIQQVGRELM	1.0	7.0	unscreened	-	3881_2:27121458-27121458 G>A_NDDCTHEADVYIKNGIIQQVGRELM
16:3080536-3080536 C>T	0.0	3881	MELANOMA	-	-	-	-	CCDC64B	ENST00000573514,p.E19K|NM_001103175,p.E226K|uc002cte.4,p.E19K|uc002ctf.4,p.E226K|ENST00000389347,p.E226K|ENST00000572449,p.E226K	retained_intron, protein_coding	uc002ctf.4	nonsynonymous SNV	exon4	c.G676A	p.E226K	QDLEAQIRGLREEVEKGEGRLQTTH	QDLEAQIRGLREKVEKGEGRLQTTH	1.0	9.0	unscreened	-	3881_16:3080536-3080536 C>T_QDLEAQIRGLREKVEKGEGRLQTTH
5:140167118-140167118 C>T	0.0	3881	MELANOMA	-	-	-	-	PCDHA1	uc003lha.2,p.R415C|uc003lhb.2,p.R415C|ENST00000378133,p.R415C|ENST00000504120,p.R415C|ENST00000394633,p.R415C|NM_018900,p.R415C|uc003lgz.3,p.R415C|NM_031411,p.R415C|NM_031410,p.R415C	protein_coding	uc003lhb.2	nonsynonymous SNV	exon1	c.C1243T	p.R415C	NYYSLVLDSALDRESLSVYELVVTA	NYYSLVLDSALDCESLSVYELVVTA	2.0	5.0	unscreened	-	3881_5:140167118-140167118 C>T_NYYSLVLDSALDCESLSVYELVVTA
12:79685893-79685893 G>A	0.0	3881	MELANOMA	-	-	-	-	SYT1	uc001syu.3,p.D150N|NM_001135806,p.D153N|ENST00000552624,p.D150N|ENST00000552744,p.D153N|uc001syv.3,p.D153N|NM_005639,p.D153N|uc001syt.3,p.D153N|NM_001135805,p.D153N|NM_001291901,p.D150N|ENST00000457153,p.D150N|ENST00000446242,p.D153N|ENST00000261205,p.D153N|uc001sys.3,p.D153N|ENST00000393240,p.D153N	protein_coding, processed_transcript	uc001syv.3	nonsynonymous SNV	exon5	c.G457A	p.D153N	EKLGKLQYSLDYDFQNNQLLVGIIQ	EKLGKLQYSLDYNFQNNQLLVGIIQ	2.0	6.0	unscreened	-	3881_12:79685893-79685893 G>A_EKLGKLQYSLDYNFQNNQLLVGIIQ
10:85972108-85972108 T>C	0.0	3881	MELANOMA	-	-	-	-	CDHR1	ENST00000332904,p.F576S|uc001kcw.3,p.F576S|ENST00000440770,p.F280S|ENST00000372117,p.F576S|NM_033100,p.F576S|uc009xst.3,p.F280S|NM_001171971,p.F576S|uc001kcv.3,p.F576S	protein_coding, processed_transcript	uc009xst.3	nonsynonymous SNV	exon8	c.T839C	p.F280S	ITLLDVNDHPPQFGKSVQKKTMVLG	ITLLDVNDHPPQSGKSVQKKTMVLG	1.0	2.0	unscreened	-	3881_10:85972108-85972108 T>C_ITLLDVNDHPPQSGKSVQKKTMVLG
8:124992888-124992888 C>T	0.0	3881	MELANOMA	-	-	-	-	FER1L6	ENST00000522917,p.S416F|uc003yqw.3,p.S416F|NM_001039112,p.S416F|ENST00000399018,p.S416F	protein_coding	uc003yqw.3	nonsynonymous SNV	exon11	c.C1247T	p.S416F	EILSGRAQESKFSKALKELKLPSKD	EILSGRAQESKFFKALKELKLPSKD	1.0	7.0	unscreened	-	3881_8:124992888-124992888 C>T_EILSGRAQESKFFKALKELKLPSKD
10:21120431-21120431 C>T	0.0	3881	MELANOMA	-	-	-	-	NEBL	ENST00000377122,p.A511T|uc001iqi.3,p.A511T|NM_006393,p.A511T	retained_intron, protein_coding, processed_transcript	uc001iqi.3	nonsynonymous SNV	exon15	c.G1531A	p.A511T	MQVSTDTLDVQRAKKASEMASQKQY	MQVSTDTLDVQRTKKASEMASQKQY	4.0	9.0	unscreened	-	3881_10:21120431-21120431 C>T_MQVSTDTLDVQRTKKASEMASQKQY
19:41510030-41510030 G>A	0.0	3881	MELANOMA	0.0	rs36060847	ID=COSM227932;OCCURENCE=1(NS)	-	CYP2B6	NM_000767,p.G99E|ENST00000330446,p.G59E|ENST00000324071,p.G99E|uc002opr.1,p.G99E|ENST00000593831,p.G23E|uc010xvu.1,p.G59E	retained_intron, protein_coding, processed_transcript	uc010xvu.1	nonsynonymous SNV	exon1	c.G176A	p.G59E	ALVDKAEAFSGRGKIAMVDPFFRGY	ALVDKAEAFSGREKIAMVDPFFRGY	1.0	7.0	unscreened	-	3881_19:41510030-41510030 G>A_ALVDKAEAFSGREKIAMVDPFFRGY
X:140967040-140967040 C>T	0.0	3881	MELANOMA	-	-	-	-	MAGEC3	ENST00000298296,p.S113F|uc011mwp.2,p.S113F|NM_138702,p.S113F	protein_coding, processed_transcript	uc011mwp.2	nonsynonymous SNV	exon3	c.C338T	p.S113F	DLHFGSQPEGKFSLRRAVSVKQREE	DLHFGSQPEGKFFLRRAVSVKQREE	1.0	4.0	unscreened	-	3881_X:140967040-140967040 C>T_DLHFGSQPEGKFFLRRAVSVKQREE
8:108264091-108264091 C>T	0.0	3881	MELANOMA	-	-	-	-	ANGPT1	NM_001199859,p.D496N|uc003ymo.3,p.D496N|NM_001146,p.D497N|ENST00000520734,p.D297N|ENST00000520052,p.D296N|ENST00000517746,p.D497N|uc011lhv.2,p.D297N|uc003ymn.3,p.D497N|ENST00000297450,p.D496N	retained_intron, protein_coding, processed_transcript	uc011lhv.2	nonsynonymous SNV	exon8	c.G889A	p.D297N	SLRSTTMMIRPLDF	SLRSTTMMIRPLNF	5.0	3.0	unscreened	-	3881_8:108264091-108264091 C>T_SLRSTTMMIRPLNF
18:28660167-28660167 T>C	0.0	3881	MELANOMA	-	-	-	-	DSC2	ENST00000251081,p.N472S|ENST00000280904,p.N472S|uc002kwl.4,p.N472S|NM_024422,p.N472S|NM_004949,p.N472S|uc002kwk.4,p.N472S	protein_coding	uc002kwl.4	nonsynonymous SNV	exon10	c.A1415G	p.N472S	VNVEDQDEGPECNPPIQTVRMKENA	VNVEDQDEGPECSPPIQTVRMKENA	4.0	7.0	unscreened	-	3881_18:28660167-28660167 T>C_VNVEDQDEGPECSPPIQTVRMKENA
18:14763762-14763762 G>A	1.0	3881	MELANOMA	-	-	-	-	ANKRD30B	NM_001145029,p.E300K|ENST00000580206,p.E300K|ENST00000447268,p.E300K|ENST00000358984,p.E300K|uc010dlo.2,p.E300K|uc021uhy.1,p.E300K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uhy.1	nonsynonymous SNV	exon7	c.G898A	p.E300K	AERTPDTAESLLEKTPDEAARLVEG	AERTPDTAESLLKKTPDEAARLVEG	7.0	7.0	unscreened	-	3881_18:14763762-14763762 G>A_AERTPDTAESLLKKTPDEAARLVEG
20:2413183-2413183 T>C	0.0	3881	MELANOMA	-	-	-	-	TGM6	uc002wfy.1,p.I672T|ENST00000202625,p.I672T|NM_198994,p.I672T	protein_coding, processed_transcript	uc002wfy.1	nonsynonymous SNV	exon13	c.T2015C	p.I672T	LEPQERASVQFDITPSKSGPRQLQV	LEPQERASVQFDTTPSKSGPRQLQV	1.0	2.0	unscreened	-	3881_20:2413183-2413183 T>C_LEPQERASVQFDTTPSKSGPRQLQV
2:189925497-189925497 G>A	1.0	3881	MELANOMA	-	-	-	-	COL5A2	uc002uqk.3,p.P682S|uc010frx.3,p.P258S|ENST00000374866,p.P682S|NM_000393,p.P682S	retained_intron, protein_coding	uc010frx.3	nonsynonymous SNV	exon15	c.C772T	p.P258S	PPGPTGFQGLPGPPGPPGEGGKPGD	PPGPTGFQGLPGSPGPPGEGGKPGD	8.0	3.0	unscreened	-	3881_2:189925497-189925497 G>A_PPGPTGFQGLPGSPGPPGEGGKPGD
3:97167437-97167437 C>T	0.0	3881	MELANOMA	-	-	-	-	EPHA6	ENST00000389672,p.S586F|NM_001080448,p.S586F|uc010how.1,p.S586F	protein_coding, nonsense_mediated_decay	uc010how.1	nonsynonymous SNV	exon7	c.C1757T	p.S586F	YYEKEHEQLTYSSTRSKAPSVIITG	YYEKEHEQLTYSFTRSKAPSVIITG	1.0	3.0	unscreened	-	3881_3:97167437-97167437 C>T_YYEKEHEQLTYSFTRSKAPSVIITG
6:159644649-159644649 G>A	0.0	3881	MELANOMA	-	-	-	-	FNDC1	ENST00000297267,p.E286K|ENST00000340366,p.E286K|uc010kjv.3,p.E286K|NM_032532,p.E286K|uc010kjw.1,p.E234K	protein_coding, processed_transcript	uc010kjw.1	nonsynonymous SNV	exon6	c.G700A	p.E234K	QSVLVSWVDPVLEKQKKVVASRQYT	QSVLVSWVDPVLKKQKKVVASRQYT	3.0	1.0	unscreened	-	3881_6:159644649-159644649 G>A_QSVLVSWVDPVLKKQKKVVASRQYT
10:133930686-133930686 G>A	0.0	3881	MELANOMA	-	-	-	-	JAKMIP3	NM_001105521,p.E81K|ENST00000298622,p.E81K|uc001lkx.4,p.E81K	protein_coding, processed_transcript	uc001lkx.4	nonsynonymous SNV	exon2	c.G241A	p.E81K	AVLLTELKTKLHEEKMKELQAVRET	AVLLTELKTKLHKEKMKELQAVRET	1.0	1.0	unscreened	-	3881_10:133930686-133930686 G>A_AVLLTELKTKLHKEKMKELQAVRET
19:57326557-57326557 C>T	0.0	3881	MELANOMA	-	-	-	-	PEG3	uc002qnv.2,p.E1085K|ENST00000593695,p.E959K|NM_001146184,p.E1085K|ENST00000423103,p.E1085K|uc010etr.2,p.E1085K|NM_001146185,p.E959K|ENST00000326441,p.E1085K|uc002qnx.2,p.E959K|NM_001146187,p.E961K|uc002qnw.2,p.E961K|NM_006210,p.E1085K|ENST00000599534,p.E1085K|ENST00000598410,p.E961K|NM_001146186,p.E1085K|uc002qnu.2,p.E1085K|uc002qnt.2,p.E1056K|ENST00000599577,p.E1085K	protein_coding, processed_transcript	uc010etr.2	nonsynonymous SNV	exon9	c.G3253A	p.E1085K	THSEETHGQETIEDPVIQGSDMEDP	THSEETHGQETIKDPVIQGSDMEDP	2.0	8.0	unscreened	-	3881_19:57326557-57326557 C>T_THSEETHGQETIKDPVIQGSDMEDP
17:12649298-12649298 C>T	0.0	3881	MELANOMA	-	-	-	-	MYOCD	uc002gno.2,p.P345L|uc002gnp.1,p.P249L|uc002gnn.2,p.P345L|ENST00000443061,p.P50L|NM_153604,p.P345L|NM_001146312,p.P345L|uc002gnq.2,p.P64L|ENST00000395988,p.P249L|ENST00000343344,p.P345L|ENST00000425538,p.P345L	protein_coding, nonsense_mediated_decay	uc002gnq.2	nonsynonymous SNV	exon2	c.C191T	p.P64L	NPNSSSTPLSNTPLSPVKNSFSGQT	NPNSSSTPLSNTLLSPVKNSFSGQT	1.0	5.0	unscreened	-	3881_17:12649298-12649298 C>T_NPNSSSTPLSNTLLSPVKNSFSGQT
1:207039325-207039325 G>A	0.0	3881	MELANOMA	-	-	ID=COSM903010;OCCURENCE=1(endometrium)	-	IL20	uc001her.3,p.R43Q|ENST00000367096,p.R43Q|ENST00000391930,p.R43Q|uc009xby.3,p.R43Q|NM_018724,p.R43Q|ENST00000367098,p.R43Q	protein_coding	uc009xby.3	nonsynonymous SNV	exon1	c.G128A	p.R43Q	GSCVIATNLQEIRNGFSEIRGSVQA	GSCVIATNLQEIQNGFSEIRGSVQA	1.0	3.0	unscreened	-	3881_1:207039325-207039325 G>A_GSCVIATNLQEIQNGFSEIRGSVQA
22:18028785-18028785 C>T	0.0	3881	MELANOMA	-	-	-	-	CECR2	uc010gqw.1,p.P1246S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010gqw.1	nonsynonymous SNV	exon16	c.C3736T	p.P1246S	RPLHPQGSPSGPPASQPPPPRSLFS	RPLHPQGSPSGPSASQPPPPRSLFS	2.0	8.0	unscreened	-	3881_22:18028785-18028785 C>T_RPLHPQGSPSGPSASQPPPPRSLFS
12:52913966-52913966 C>G	0.0	3881	MELANOMA	-	-	-	-	KRT5	ENST00000551275,p.G39R|ENST00000252242,p.G39R|uc009zmh.3,p.G39R|NM_000424,p.G39R|ENST00000546577,p.G39R|uc001san.3,p.G39R	retained_intron, protein_coding	uc009zmh.3	nonsynonymous SNV	exon1	c.G115C	p.G39R	VSRTSFTSVSRSGGGGGGGFGRVSL	VSRTSFTSVSRSRGGGGGGFGRVSL	2.0	8.0	unscreened	-	3881_12:52913966-52913966 C>G_VSRTSFTSVSRSRGGGGGGFGRVSL
8:144942563-144942563 T>C	0.0	3881	MELANOMA	-	-	-	-	EPPK1	NM_031308,p.N1620S|ENST00000525985,p.N1620S	protein_coding	NM_031308	nonsynonymous SNV	exon2	c.A4859G	p.N1620S	QAATGFIIDPVENRKLTVEEAFKAG	QAATGFIIDPVESRKLTVEEAFKAG	1.0	3.0	unscreened	-	3881_8:144942563-144942563 T>C_QAATGFIIDPVESRKLTVEEAFKAG
X:127185359-127185359 G>A	0.0	3881	MELANOMA	-	-	-	-	ACTRT1	NM_138289,p.S276L|ENST00000371124,p.S276L|uc004eum.3,p.S276L	protein_coding	uc004eum.3	nonsynonymous SNV	exon1	c.C827T	p.S276L	APDQLGIHSPGLSKMVSSSIMKCDT	APDQLGIHSPGLLKMVSSSIMKCDT	1.0	4.0	unscreened	-	3881_X:127185359-127185359 G>A_APDQLGIHSPGLLKMVSSSIMKCDT
14:86088600-86088600 G>A	0.0	3881	MELANOMA	-	-	-	-	FLRT2	uc010atd.3,p.D248N|ENST00000330753,p.D248N|uc021rxf.1,p.D248N|NM_013231,p.D248N|uc001xvr.3,p.D248N|ENST00000554746,p.D248N	retained_intron, protein_coding, processed_transcript	uc021rxf.1	nonsynonymous SNV	exon1	c.G742A	p.D248N	SIVRNSLSHPPPDLPGTHLIRLYLQ	SIVRNSLSHPPPNLPGTHLIRLYLQ	4.0	6.0	unscreened	-	3881_14:86088600-86088600 G>A_SIVRNSLSHPPPNLPGTHLIRLYLQ
5:71015227-71015227 G>A	0.0	3881	MELANOMA	-	-	-	-	CARTPT	ENST00000296777,p.R36Q|NM_004291,p.R36Q|uc003kbv.2,p.R36Q	protein_coding, processed_transcript	uc003kbv.2	nonsynonymous SNV	exon1	c.G107A	p.R36Q	GTRAQEDAELQPRALDIYSAVDDAS	GTRAQEDAELQPQALDIYSAVDDAS	1.0	6.0	unscreened	-	3881_5:71015227-71015227 G>A_GTRAQEDAELQPQALDIYSAVDDAS
20:55108414-55108414 C>T	0.0	3881	MELANOMA	-	-	-	-	FAM209B	NM_001013646,p.S6L|uc002xxz.4,p.S6L|ENST00000371325,p.S6L	protein_coding	uc002xxz.4	nonsynonymous SNV	exon1	c.C17T	p.S6L	MWTLKSSLVLLLCLTCSY	MWTLKLSLVLLLCLTCSY	2.0	4.0	unscreened	-	3881_20:55108414-55108414 C>T_MWTLKLSLVLLLCLTCSY
19:8196674-8196674 C>T	0.0	3881	MELANOMA	-	-	-	-	FBN3	uc002mjf.3,p.G585D|NM_032447,p.G585D|ENST00000270509,p.G585D|ENST00000601739,p.G585D|ENST00000600128,p.G585D	retained_intron, protein_coding	uc002mjf.3	nonsynonymous SNV	exon14	c.G1754A	p.G585D	IDECQTPGICVNGHCTNTEGSFRCQ	IDECQTPGICVNDHCTNTEGSFRCQ	1.0	9.0	unscreened	-	3881_19:8196674-8196674 C>T_IDECQTPGICVNDHCTNTEGSFRCQ
8:30702090-30702090 C>T	0.0	3881	MELANOMA	-	-	-	-	TEX15	ENST00000256246,p.G1482R|uc003xil.3,p.G1482R|NM_031271,p.G1482R	protein_coding, processed_transcript	uc003xil.3	nonsynonymous SNV	exon1	c.G4444A	p.G1482R	AKDSVYKRSMTEGSTVNTEYKNQKN	AKDSVYKRSMTERSTVNTEYKNQKN	1.0	7.0	unscreened	-	3881_8:30702090-30702090 C>T_AKDSVYKRSMTERSTVNTEYKNQKN
13:20004615-20004615 T>A	0.0	3881	MELANOMA	-	-	-	-	TPTE2	ENST00000462409,p.N301I	protein_coding, nonsense_mediated_decay	ENST00000462409	nonsynonymous SNV	exon13	c.A902T	p.N301I	EKKVVFSSTSLGNCSREEGSTQGQL	EKKVVFSSTSLGICSREEGSTQGQL	1.0	2.0	unscreened	-	3881_13:20004615-20004615 T>A_EKKVVFSSTSLGICSREEGSTQGQL
1:32205722-32205722 C>T	0.0	3881	MELANOMA	-	-	-	-	BAI2	ENST00000398547,p.D616N|uc010ogq.2,p.D683N|uc001bto.3,p.D683N|NM_001294335,p.D683N|uc010ogp.2,p.D616N|ENST00000527361,p.D683N|ENST00000420125,p.D621N|ENST00000257070,p.D683N|uc001btn.3,p.D683N|uc001btq.1,p.D616N|ENST00000398538,p.D671N|uc010ogo.2,p.D325N|NM_001294336,p.D683N|ENST00000398556,p.D631N|ENST00000373655,p.D683N|ENST00000373658,p.D683N|ENST00000440175,p.D325N|ENST00000398542,p.D616N	retained_intron, protein_coding, processed_transcript	uc010ogq.2	nonsynonymous SNV	exon11	c.G2047A	p.D683N	FMVDAENKEKWDDAQQVSPGSVHLL	FMVDAENKEKWDNAQQVSPGSVHLL	3.0	9.0	unscreened	-	3881_1:32205722-32205722 C>T_FMVDAENKEKWDNAQQVSPGSVHLL
4:126370866-126370866 C>T	0.0	3881	MELANOMA	-	-	ID=COSM106670,COSM106669;OCCURENCE=1(skin)	1	FAT4	uc011cgp.2,p.P1197S|ENST00000335110,p.P1197S|NM_001291303,p.P2901S|NM_001291285,p.P2901S|uc003ifi.1,p.P377S|ENST00000394329,p.P2899S|NM_024582,p.P2899S|uc003ifj.4,p.P2899S	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.C3589T	p.P1197S	IGSKVTQVFATDPDEGSNGQVFYFI	IGSKVTQVFATDSDEGSNGQVFYFI	4.0	9.0	unscreened	-	3881_4:126370866-126370866 C>T_IGSKVTQVFATDSDEGSNGQVFYFI
8:110477453-110477453 G>A	0.0	3881	MELANOMA	-	-	-	-	PKHD1L1	uc003yne.3,p.D2798N|ENST00000378402,p.D2798N|NM_177531,p.D2798N	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon49	c.G8392A	p.D2798N	AGFRWEHEMVMIDVDGSLTGHKGHT	AGFRWEHEMVMINVDGSLTGHKGHT	4.0	5.0	unscreened	-	3881_8:110477453-110477453 G>A_AGFRWEHEMVMINVDGSLTGHKGHT
6:29430126-29430126 G>A	0.0	3881	MELANOMA	-	-	-	-	OR2H1	ENST00000377132,p.E194K|ENST00000442615,p.E194K|uc003nmj.1,p.E194K|uc003nmi.3,p.E194K|uc031smz.1,p.E116K|ENST00000396792,p.E194K|uc021ytr.1,p.E194K|ENST00000377136,p.E194K|NM_030883,p.E194K|ENST00000377133,p.E194K	protein_coding, processed_transcript	uc031smz.1	nonsynonymous SNV	exon2	c.G346A	p.E116K	LIRLSCGDTSYNEIQLAVSSVIFVV	LIRLSCGDTSYNKIQLAVSSVIFVV	1.0	4.0	unscreened	-	3881_6:29430126-29430126 G>A_LIRLSCGDTSYNKIQLAVSSVIFVV
11:58607034-58607034 C>T	0.0	3881	MELANOMA	-	-	-	-	GLYATL2	uc009ymq.3,p.E18K|uc001nnd.4,p.E18K|ENST00000532258,p.E18K|NM_145016,p.E18K|ENST00000287275,p.E18K	protein_coding, processed_transcript	uc009ymq.3	nonsynonymous SNV	exon3	c.G52A	p.E18K	NSQKLQILYKSLEKSIPESIKVYGA	NSQKLQILYKSLKKSIPESIKVYGA	4.0	9.0	unscreened	-	3881_11:58607034-58607034 C>T_NSQKLQILYKSLKKSIPESIKVYGA
11:92532217-92532217 A>G	0.0	3881	MELANOMA	-	-	-	2	FAT3	ENST00000298047,p.E2013G|ENST00000409404,p.E2013G|uc001pdj.4,p.E2013G|ENST00000525166,p.E1863G|NM_001008781,p.E2013G	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon9	c.A6038G	p.E2013G	VAIVNAVGNRLNEPLKYSILNPGNK	VAIVNAVGNRLNGPLKYSILNPGNK	1.0	5.0	unscreened	-	3881_11:92532217-92532217 A>G_VAIVNAVGNRLNGPLKYSILNPGNK
6:26046042-26046042 G>A	0.0	3881	MELANOMA	-	-	-	-	HIST1H3C	uc003nfv.3,p.R135K|ENST00000540144,p.R135K|NM_003531,p.R135K	protein_coding	uc003nfv.3	nonsynonymous SNV	exon1	c.G404A	p.R135K	KDIQLARRIRGERA	KDIQLARRIRGEKA	3.0	9.0	unscreened	-	3881_6:26046042-26046042 G>A_KDIQLARRIRGEKA
X:120009281-120009281 C>T	0.0	3881	MELANOMA	-	-	-	-	CT47B1	NM_001145718,p.E82K|ENST00000371311,p.E82K|uc011muc.2,p.E82K	protein_coding	uc011muc.2	nonsynonymous SNV	exon1	c.G244A	p.E82K	AGLAAVPQGGSAEEDSDIGPATEEE	AGLAAVPQGGSAKEDSDIGPATEEE	3.0	9.0	unscreened	-	3881_X:120009281-120009281 C>T_AGLAAVPQGGSAKEDSDIGPATEEE
2:84780135-84780135 G>A	0.0	3881	MELANOMA	-	-	-	-	DNAH6	NM_001370,p.E527K|uc002sop.3,p.E106K|uc002soo.3,p.E106K|ENST00000398278,p.E527K|ENST00000389394,p.E527K|uc010fgb.3,p.E527K|ENST00000237449,p.E527K	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon10	c.G1579A	p.E527K	TELMLTVQSLLFEPSLEDFLDGILG	TELMLTVQSLLFKPSLEDFLDGILG	1.0	4.0	unscreened	-	3881_2:84780135-84780135 G>A_TELMLTVQSLLFKPSLEDFLDGILG
2:121106881-121106881 G>A	0.0	3881	MELANOMA	-	-	-	-	INHBB	NM_002193,p.V219M|uc002tmn.2,p.V219M|ENST00000295228,p.V219M	protein_coding	uc002tmn.2	nonsynonymous SNV	exon2	c.G655A	p.V219M	GHGDRWNMVEKRVDLKRSGWHTFPL	GHGDRWNMVEKRMDLKRSGWHTFPL	4.0	7.0	unscreened	-	3881_2:121106881-121106881 G>A_GHGDRWNMVEKRMDLKRSGWHTFPL
2:168102608-168102608 G>A	0.0	3881	MELANOMA	-	-	-	-	XIRP2	NM_001199144,p.G1347E|NM_152381,p.G1569E|ENST00000409195,p.G1569E|ENST00000409273,p.G1347E|uc002udy.3,p.G1394E|ENST00000295237,p.G1569E|uc010fpq.3,p.G1347E|uc002udx.3,p.G1569E	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G4040A	p.G1347E	EDLYSQKVIQAPGIIIEADEIGDVR	EDLYSQKVIQAPEIIIEADEIGDVR	1.0	4.0	unscreened	-	3881_2:168102608-168102608 G>A_EDLYSQKVIQAPEIIIEADEIGDVR
19:17766797-17766797 G>A	0.0	3881	MELANOMA	-	-	-	-	UNC13A	uc031rjw.1,p.T393I|ENST00000519716,p.T393I|ENST00000428389,p.T481I|ENST00000552293,p.T393I|NM_001080421,p.T393I|ENST00000252773,p.T393I|ENST00000551649,p.T393I|ENST00000550896,p.T393I|uc031rjv.1,p.T393I	retained_intron, protein_coding	uc031rjw.1	nonsynonymous SNV	exon10	c.C1178T	p.T393I	APGKEDKAPVAPTEAPDMAKVAPKP	APGKEDKAPVAPIEAPDMAKVAPKP	3.0	7.0	unscreened	-	3881_19:17766797-17766797 G>A_APGKEDKAPVAPIEAPDMAKVAPKP
15:45411362-45411362 G>A	0.0	3881	MELANOMA	-	-	-	-	DUOXA1	uc001zuq.2,p.S325F|uc001zur.2,p.S280F|ENST00000558422,p.S280F|NM_001276267,p.S280F|ENST00000560572,p.S325F|ENST00000558996,p.S280F|uc010bed.2,p.S280F|NM_001276268,p.S280F|NM_001276266,p.S325F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010bed.2	nonsynonymous SNV	exon6	c.C839T	p.S280F	SPKSQDIPLSEASSTKAYCKEAHPK	SPKSQDIPLSEAFSTKAYCKEAHPK	1.0	8.0	unscreened	-	3881_15:45411362-45411362 G>A_SPKSQDIPLSEAFSTKAYCKEAHPK
14:94931081-94931081 G>A	0.0	3881	MELANOMA	-	-	-	-	SERPINA9	NM_001284276,p.S207F|ENST00000380365,p.S338F|uc001ydh.1,p.S356F|ENST00000337425,p.S356F|uc001ydf.3,p.S356F|NM_175739,p.S356F|ENST00000546329,p.S320F|uc001ydi.1,p.S320F|NM_001284275,p.S320F|ENST00000424550,p.S207F|ENST00000298845,p.S256F|uc001ydg.3,p.S320F|uc001yde.3,p.S256F|ENST00000448305,p.S258F|NM_001042518,p.S256F|uc010avc.3,p.S207F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010avc.3	nonsynonymous SNV	exon5	c.C620T	p.S207F	GIQNVFDKNADFSGIAKRDSLQVSK	GIQNVFDKNADFFGIAKRDSLQVSK	1.0	7.0	unscreened	-	3881_14:94931081-94931081 G>A_GIQNVFDKNADFFGIAKRDSLQVSK
19:39101908-39101908 G>A	0.0	3881	MELANOMA	-	-	-	-	MAP4K1	ENST00000586296,p.P235S|ENST00000589130,p.P231S|ENST00000591517,p.P235S|uc002oix.1,p.P235S|NM_007181,p.P235S|NM_001042600,p.P235S|uc002oiy.1,p.P235S|ENST00000396857,p.P235S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oiy.1	nonsynonymous SNV	exon10	c.C703T	p.P235S	VLFLMTKSGYQPPRLKEKGKWSAAF	VLFLMTKSGYQPSRLKEKGKWSAAF	6.0	8.0	unscreened	-	3881_19:39101908-39101908 G>A_VLFLMTKSGYQPSRLKEKGKWSAAF
3:130887770-130887770 G>A	0.0	3881	MELANOMA	-	-	-	-	NEK11	ENST00000508196,p.G425S|uc003eny.3,p.G425S|ENST00000383366,p.G425S|ENST00000510769,p.G320S|uc011bll.2,p.G320S|ENST00000511262,p.G425S|uc003enx.3,p.G425S|NM_001146003,p.G425S|NM_024800,p.G425S|ENST00000510688,p.G425S|ENST00000356918,p.G425S|ENST00000429253,p.G425S|uc003eoa.3,p.G425S|NM_145910,p.G425S|ENST00000507910,p.G425S|uc003enz.3,p.G243S|uc011blm.2,p.G425S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011blm.2	nonsynonymous SNV	exon12	c.G1273A	p.G425S	CSPQDEDEERWQGREEESDEPTLEN	CSPQDEDEERWQSREEESDEPTLEN	5.0	9.0	unscreened	-	3881_3:130887770-130887770 G>A_CSPQDEDEERWQSREEESDEPTLEN
8:52366277-52366277 A>G	0.0	3881	MELANOMA	-	-	-	-	PXDNL	ENST00000356297,p.C351R|NM_144651,p.C351R|ENST00000543296,p.C351R|uc003xqu.4,p.C351R	retained_intron, protein_coding, nonsense_mediated_decay	uc003xqu.4	nonsynonymous SNV	exon10	c.T1051C	p.C351R	TEVLIGTSTTLECMATGHPHPLITW	TEVLIGTSTTLERMATGHPHPLITW	3.0	7.0	unscreened	-	3881_8:52366277-52366277 A>G_TEVLIGTSTTLERMATGHPHPLITW
11:60558538-60558538 C>T	0.0	3881	MELANOMA	-	-	-	-	MS4A10	NM_206893,p.S92F|uc001npz.1,p.S92F|ENST00000308287,p.S92F	protein_coding	uc001npz.1	nonsynonymous SNV	exon3	c.C275T	p.S92F	SIVKNLHLVVLKSWYPFWGAASFLI	SIVKNLHLVVLKFWYPFWGAASFLI	1.0	6.0	unscreened	-	3881_11:60558538-60558538 C>T_SIVKNLHLVVLKFWYPFWGAASFLI
2:27527902-27527902 G>A	0.0	3881	MELANOMA	-	-	-	-	TRIM54	NM_032546,p.E239K|uc002rjn.3,p.E239K|ENST00000380075,p.E197K|uc002rjo.3,p.E197K|NM_187841,p.E197K|ENST00000296098,p.E239K	retained_intron, protein_coding	uc002rjo.3	nonsynonymous SNV	exon4	c.G589A	p.E197K	NDRVQAVITQMEEVCQTIEDNSRRQ	NDRVQAVITQMEKVCQTIEDNSRRQ	1.0	2.0	unscreened	-	3881_2:27527902-27527902 G>A_NDRVQAVITQMEKVCQTIEDNSRRQ
19:31025807-31025807 C>T	0.0	3881	MELANOMA	-	-	-	-	ZNF536	ENST00000585628,p.R742C|NM_014717,p.R742C|uc002nsu.1,p.R742C|ENST00000355537,p.R742C|uc010edd.1,p.R742C	protein_coding, processed_transcript	uc010edd.1	nonsynonymous SNV	exon3	c.C2224T	p.R742C	GRSAGVQQPALLRDRSLGSAMKDCP	GRSAGVQQPALLCDRSLGSAMKDCP	1.0	7.0	unscreened	-	3881_19:31025807-31025807 C>T_GRSAGVQQPALLCDRSLGSAMKDCP
X:130408135-130408135 C>T	0.0	3881	MELANOMA	-	-	-	-	IGSF1	ENST00000370910,p.S1257N|ENST00000361420,p.S1266N|NM_001170961,p.S1271N|NM_001555,p.S1266N|uc004ewd.3,p.S1266N|ENST00000370904,p.S1257N|ENST00000370903,p.S1271N|uc022cdv.1,p.S1257N|uc004ewf.2,p.S1246N|NM_001170962,p.S1257N|uc004ewe.4,p.S1271N	protein_coding, processed_transcript	uc022cdv.1	nonsynonymous SNV	exon18	c.G3770A	p.S1257N	AQECTVGNIVRSSLIVVVVVALGVV	AQECTVGNIVRSNLIVVVVVALGVV	1.0	5.0	unscreened	-	3881_X:130408135-130408135 C>T_AQECTVGNIVRSNLIVVVVVALGVV
X:65480099-65480099 G>A	0.0	3881	MELANOMA	0.0	-	-	-	HEPH	ENST00000419594,p.R876Q|uc011mpa.2,p.R1068Q|ENST00000374727,p.R1068Q|ENST00000343002,p.R1065Q|NM_001282141,p.R876Q|uc004dwn.3,p.R1068Q|uc004dwo.3,p.R798Q|NM_014799,p.R798Q|ENST00000519389,p.R1119Q|uc011moz.2,p.R1119Q|uc010nkr.3,p.R876Q|NM_001130860,p.R1068Q|ENST00000441993,p.R1068Q|NM_138737,p.R1119Q|ENST00000336279,p.R798Q	retained_intron, protein_coding, nonsense_mediated_decay	uc011mpa.2	nonsynonymous SNV	exon18	c.G3203A	p.R1068Q	HAGMETLFTVFSRTEHLSPLTVITK	HAGMETLFTVFSQTEHLSPLTVITK	3.0	7.0	unscreened	-	3881_X:65480099-65480099 G>A_HAGMETLFTVFSQTEHLSPLTVITK
19:8201157-8201157 C>T	0.0	3881	MELANOMA	-	-	-	-	FBN3	ENST00000601739,p.G461D|ENST00000600128,p.G461D|uc002mjf.3,p.G461D|ENST00000270509,p.G461D|NM_032447,p.G461D	retained_intron, protein_coding	uc002mjf.3	nonsynonymous SNV	exon11	c.G1382A	p.G461D	DVDECTSSPCHHGDCVNIPGTYHCR	DVDECTSSPCHHDDCVNIPGTYHCR	1.0	6.0	unscreened	-	3881_19:8201157-8201157 C>T_DVDECTSSPCHHDDCVNIPGTYHCR
8:124748069-124748069 C>T	0.0	3881	MELANOMA	-	-	-	-	ANXA13	ENST00000262219,p.D22N|NM_001003954,p.D22N|uc003yqt.3,p.D22N	retained_intron, protein_coding, processed_transcript	uc003yqt.3	nonsynonymous SNV	exon2	c.G64A	p.D22N	TLSEGSQQLPKGDSQPSTVVQPLSH	TLSEGSQQLPKGNSQPSTVVQPLSH	1.0	6.0	unscreened	-	3881_8:124748069-124748069 C>T_TLSEGSQQLPKGNSQPSTVVQPLSH
8:39442831-39442831 G>A	0.0	3881	MELANOMA	-	-	-	-	ADAM18	ENST00000520001,p.R31Q|ENST00000379866,p.R31Q|uc010lwx.3,p.R31Q|NM_001190956,p.R31Q|uc003xni.3,p.R31Q|ENST00000520772,p.R31Q|ENST00000265707,p.R31Q|ENST00000520087,p.R31Q|NM_014237,p.R31Q|uc003xnh.3,p.R31Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lwx.3	nonsynonymous SNV	exon2	c.G92A	p.R31Q	GSEGIFLHVTVPRKIKSNDSEVSER	GSEGIFLHVTVPQKIKSNDSEVSER	1.0	8.0	unscreened	-	3881_8:39442831-39442831 G>A_GSEGIFLHVTVPQKIKSNDSEVSER
6:12294538-12294538 G>A	0.0	3881	MELANOMA	-	-	ID=COSM109586;OCCURENCE=1(skin)	-	EDN1	NM_001168319,p.G144E|uc003naf.4,p.G144E|ENST00000379375,p.G145E|NM_001955,p.G145E|uc003nad.3,p.G145E|uc003nae.4,p.G145E	protein_coding	uc003naf.4	nonsynonymous SNV	exon4	c.G431A	p.G144E	DIMEKDWNNHKKGKDCSKLGKKCIY	DIMEKDWNNHKKEKDCSKLGKKCIY	3.0	1.0	unscreened	-	3881_6:12294538-12294538 G>A_DIMEKDWNNHKKEKDCSKLGKKCIY
1:115593124-115593124 C>T	0.0	3881	MELANOMA	-	-	-	-	TSPAN2	NM_005725,p.R218Q|ENST00000369514,p.R190Q|ENST00000369515,p.R193Q|uc021osc.1,p.R190Q|ENST00000369516,p.R218Q|ENST00000433172,p.R184Q|uc001eft.3,p.R218Q	protein_coding, processed_transcript	uc021osc.1	nonsynonymous SNV	exon7	c.G569A	p.R190Q	FSMVLCCAIRNSRDVI	FSMVLCCAIRNSQDVI	5.0	4.0	unscreened	-	3881_1:115593124-115593124 C>T_FSMVLCCAIRNSQDVI
17:60767361-60767361 G>A	0.0	3881	MELANOMA	-	-	-	-	MRC2	uc002jaf.4,p.G93E|uc002jae.4,p.G298E|ENST00000303375,p.G1227E|ENST00000446119,p.G93E|uc002jad.4,p.G1227E|NM_006039,p.G1227E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jaf.4	nonsynonymous SNV	exon6	c.G278A	p.G93E	QQPGGCTYVDVDGAWRTTSCDTKLQ	QQPGGCTYVDVDEAWRTTSCDTKLQ	6.0	2.0	unscreened	-	3881_17:60767361-60767361 G>A_QQPGGCTYVDVDEAWRTTSCDTKLQ
X:117043345-117043345 C>T	0.0	3881	MELANOMA	-	-	-	-	KLHL13	uc011mtn.2,p.E269K|NM_001168302,p.E413K|uc022cde.1,p.E413K|NM_001168303,p.E387K|NM_033495,p.E429K|ENST00000469946,p.E378K|uc011mtp.2,p.E432K|uc004eqk.3,p.E378K|uc011mto.2,p.E423K|NM_001168301,p.E413K|ENST00000371882,p.E378K|ENST00000371876,p.E378K|ENST00000540167,p.E413K|ENST00000539496,p.E432K|NM_001168300,p.E423K|ENST00000371878,p.E378K|uc004eqm.3,p.E387K|ENST00000447671,p.E378K|uc011mtq.2,p.E413K|ENST00000541812,p.E413K|uc004eql.3,p.E429K|NM_001168299,p.E432K|ENST00000262820,p.E429K|ENST00000545703,p.E387K	protein_coding	uc022cde.1	nonsynonymous SNV	exon6	c.G1237A	p.E413K	RYNKWMQVASLNEKRTFFHLSALKG	RYNKWMQVASLNKKRTFFHLSALKG	1.0	4.0	unscreened	-	3881_X:117043345-117043345 C>T_RYNKWMQVASLNKKRTFFHLSALKG
8:57026421-57026421 G>A	0.0	3881	MELANOMA	-	-	-	-	MOS	ENST00000311923,p.P41S|NM_005372,p.P41S|uc011leb.2,p.P41S	protein_coding	uc011leb.2	nonsynonymous SNV	exon1	c.C121T	p.P41S	ELPAKLLLGATLPRAPRLPRRLAWC	ELPAKLLLGATLSRAPRLPRRLAWC	1.0	6.0	unscreened	-	3881_8:57026421-57026421 G>A_ELPAKLLLGATLSRAPRLPRRLAWC
1:210411463-210411463 C>T	0.0	3881	MELANOMA	-	-	-	-	SERTAD4	uc009xcw.3,p.A53V|ENST00000367012,p.A53V|uc001hhy.3,p.A53V|NM_019605,p.A53V	protein_coding, processed_transcript	uc009xcw.3	nonsynonymous SNV	exon1	c.C158T	p.A53V	GPAQAPLQGDRGAGPPLAGSHYRGI	GPAQAPLQGDRGVGPPLAGSHYRGI	3.0	2.0	unscreened	-	3881_1:210411463-210411463 C>T_GPAQAPLQGDRGVGPPLAGSHYRGI
19:9064563-9064563 G>A	0.0	3881	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.S7628L|ENST00000397910,p.S7628L|NM_024690,p.S7628L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C22883T	p.S7628L	SAKMTITTQTGPSESTLESTLNLNT	SAKMTITTQTGPLESTLESTLNLNT	1.0	5.0	unscreened	-	3881_19:9064563-9064563 G>A_SAKMTITTQTGPLESTLESTLNLNT
4:96141217-96141217 G>A	0.0	3881	MELANOMA	-	-	ID=COSM448363;OCCURENCE=1(breast)	-	UNC5C	ENST00000453304,p.R407C|NM_003728,p.R407C|uc003htq.3,p.R426C|ENST00000506749,p.R426C|ENST00000513796,p.R426C|uc003hto.3,p.R407C|uc010ilc.2,p.R426C	protein_coding	uc010ilc.2	nonsynonymous SNV	exon9	c.C1276T	p.R426C	VVVALFVYRKNHRDFESDIIDSSAL	VVVALFVYRKNHCDFESDIIDSSAL	2.0	2.0	unscreened	-	3881_4:96141217-96141217 G>A_VVVALFVYRKNHCDFESDIIDSSAL
11:62752131-62752131 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC22A6	NM_153278,p.G11E|uc001nwk.3,p.G11E|NM_153276,p.G11E|uc001nwj.3,p.G11E|ENST00000421062,p.G11E|NM_004790,p.G11E|ENST00000540654,p.G11E|uc001nwm.3,p.G11E|ENST00000458333,p.G11E|ENST00000360421,p.G11E|uc001nwl.3,p.G11E|NM_153277,p.G11E|ENST00000377871,p.G11E	protein_coding, processed_transcript, nonsense_mediated_decay	uc001nwm.3	nonsynonymous SNV	exon1	c.G32A	p.G11E	MAFNDLLQQVGGVGRFQQIQVTL	MAFNDLLQQVEGVGRFQQIQVTL	1.0	3.0	unscreened	-	3881_11:62752131-62752131 C>T_MAFNDLLQQVEGVGRFQQIQVTL
1:21048391-21048391 T>C	0.0	3881	MELANOMA	-	-	-	-	SH2D5	ENST00000444387,p.N389S|uc001bdt.1,p.N305S|NM_001103161,p.N389S|ENST00000375031,p.N305S|uc009vpy.1,p.N389S|NM_001103160,p.N305S	protein_coding, processed_transcript	uc009vpy.1	nonsynonymous SNV	exon10	c.A1166G	p.N389S	RSLFCPLDMGRLNPTYEEQDCGPPG	RSLFCPLDMGRLSPTYEEQDCGPPG	5.0	3.0	unscreened	-	3881_1:21048391-21048391 T>C_RSLFCPLDMGRLSPTYEEQDCGPPG
14:65406445-65406445 C>T	0.0	3881	MELANOMA	-	-	-	-	GPX2	ENST00000557049,p.E56K	protein_coding, nonsense_mediated_decay	ENST00000557049	nonsynonymous SNV	exon2	c.G166A	p.E56K	TLVQKCEVNGQNEHPVFAYLKDKLP	TLVQKCEVNGQNKHPVFAYLKDKLP	1.0	8.0	unscreened	-	3881_14:65406445-65406445 C>T_TLVQKCEVNGQNKHPVFAYLKDKLP
15:78922021-78922021 C>T	0.0	3881	MELANOMA	-	-	-	-	CHRNB4	NM_000750,p.R209K|uc002bed.1,p.R209K|ENST00000261751,p.R209K|uc010blh.1,p.R27K	protein_coding, nonsense_mediated_decay	uc010blh.1	nonsynonymous SNV	exon12	c.G80A	p.R27K	PSGEWDIVALPGRRTVNPQDPSYVD	PSGEWDIVALPGKRTVNPQDPSYVD	1.0	9.0	unscreened	-	3881_15:78922021-78922021 C>T_PSGEWDIVALPGKRTVNPQDPSYVD
10:55568793-55568793 C>T	0.0	3881	MELANOMA	-	-	-	-	PCDH15	ENST00000395442,p.E538K|ENST00000395445,p.E1673K|ENST00000395446,p.E869K|uc010qht.2,p.E1671K|ENST00000395440,p.E607K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qht.2	nonsynonymous SNV	exon35	c.G5011A	p.E1671K	LARRRPMVEEVKEVKGRKEEPQEEQ	LARRRPMVEEVKKVKGRKEEPQEEQ	1.0	4.0	unscreened	-	3881_10:55568793-55568793 C>T_LARRRPMVEEVKKVKGRKEEPQEEQ
12:33021877-33021877 G>A	0.0	3881	MELANOMA	-	-	-	-	PKP2	uc001rlj.4,p.S385F|uc001rlk.4,p.S385F|uc010skj.2,p.S385F|ENST00000340811,p.S385F|ENST00000070846,p.S385F|NM_004572,p.S385F|NM_001005242,p.S385F	retained_intron, protein_coding, processed_transcript	uc010skj.2	nonsynonymous SNV	exon4	c.C1154T	p.S385F	AATFIQHECFQKSEARKRVNQLRGI	AATFIQHECFQKFEARKRVNQLRGI	2.0	8.0	unscreened	-	3881_12:33021877-33021877 G>A_AATFIQHECFQKFEARKRVNQLRGI
15:63618546-63618546 C>T	0.0	3881	MELANOMA	-	-	-	-	CA12	NM_001218,p.G335S|uc002ame.3,p.G264S|ENST00000178638,p.G335S|ENST00000344366,p.G324S|ENST00000422263,p.G264S|uc002amc.3,p.G335S|NM_206925,p.G324S|NM_001293642,p.G264S|uc002amd.3,p.G324S	retained_intron, protein_coding, processed_transcript	uc002ame.3	nonsynonymous SNV	exon9	c.G790A	p.G264S	SIWLFRRKSIKKGDNKGVIYKPATK	SIWLFRRKSIKKSDNKGVIYKPATK	4.0	9.0	unscreened	-	3881_15:63618546-63618546 C>T_SIWLFRRKSIKKSDNKGVIYKPATK
14:71199312-71199312 G>A	1.0	3881	MELANOMA	-	-	-	-	MAP3K9	NM_001284232,p.T658I|uc001xmk.3,p.T658I|ENST00000554752,p.T925I|ENST00000555993,p.T939I|uc010ttk.2,p.T653I|NM_001284231,p.T701I|ENST00000554146,p.T653I|NM_001284230,p.T925I|uc001xml.3,p.T939I|NM_033141,p.T939I|uc001xmm.3,p.T925I|ENST00000381250,p.T902I|ENST00000553414,p.T658I	retained_intron, protein_coding	uc010ttk.2	nonsynonymous SNV	exon11	c.C1958T	p.T653I	RRTPSDGALKPETLLASRSPSSNGL	RRTPSDGALKPEILLASRSPSSNGL	4.0	5.0	unscreened	-	3881_14:71199312-71199312 G>A_RRTPSDGALKPEILLASRSPSSNGL
5:74325621-74325621 G>A	0.0	3881	MELANOMA	-	-	-	-	GCNT4	uc003kdn.3,p.P81L|NM_016591,p.P81L|ENST00000322348,p.P81L	protein_coding	uc003kdn.3	nonsynonymous SNV	exon1	c.C242T	p.P81L	YEVNCSGIYEQEPLEIGKSLEIRRR	YEVNCSGIYEQELLEIGKSLEIRRR	2.0	3.0	unscreened	-	3881_5:74325621-74325621 G>A_YEVNCSGIYEQELLEIGKSLEIRRR
11:120998766-120998766 G>A	0.0	3881	MELANOMA	-	-	-	-	TECTA	ENST00000392793,p.E694K|uc010rzo.2,p.E694K|ENST00000264037,p.E694K|NM_005422,p.E694K	protein_coding, processed_transcript	uc010rzo.2	nonsynonymous SNV	exon8	c.G2080A	p.E694K	DVYCFNKTCGSGEVCAVEDGYQGCF	DVYCFNKTCGSGKVCAVEDGYQGCF	2.0	7.0	unscreened	-	3881_11:120998766-120998766 G>A_DVYCFNKTCGSGKVCAVEDGYQGCF
12:124409645-124409645 G>A	0.0	3881	MELANOMA	-	-	-	-	DNAH10	uc001uft.4,p.D3821N|ENST00000409039,p.D3821N|NM_207437,p.D3821N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon67	c.G11461A	p.D3821N	DSLEQFPVPLGYDNNITPFQKLLIL	DSLEQFPVPLGYNNNITPFQKLLIL	1.0	8.0	unscreened	-	3881_12:124409645-124409645 G>A_DSLEQFPVPLGYNNNITPFQKLLIL
2:113780333-113780333 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1669225,COSM1669224;OCCURENCE=3(haematopoietic_and_lymphoid_tissue)	-	IL36B	NM_014438,p.S138F|ENST00000259213,p.S138F|uc002tiq.1,p.S138F	protein_coding	uc002tiq.1	nonsynonymous SNV	exon6	c.C413T	p.S138F	WGIGVGRKKWKSSFQHHHLRKKDKD	WGIGVGRKKWKSFFQHHHLRKKDKD	1.0	3.0	unscreened	-	3881_2:113780333-113780333 G>A_WGIGVGRKKWKSFFQHHHLRKKDKD
19:40419941-40419941 C>T	0.0	3881	MELANOMA	-	-	-	-	FCGBP	uc002omp.4,p.G1018D|NM_003890,p.G1018D|ENST00000221347,p.G1018D	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon6	c.G3053A	p.G1018D	FNGDPADDLALRGGGQAANALAFGN	FNGDPADDLALRDGGQAANALAFGN	3.0	6.0	unscreened	-	3881_19:40419941-40419941 C>T_FNGDPADDLALRDGGQAANALAFGN
1:147381214-147381214 G>A	0.0	3881	MELANOMA	-	-	-	-	GJA8	NM_005267,p.D378N|uc021ovm.1,p.D378N|ENST00000369235,p.D378N|uc001epu.2,p.D378N|ENST00000240986,p.D378N	protein_coding	uc021ovm.1	nonsynonymous SNV	exon1	c.G1132A	p.D378N	VPEGEKVETPGVDKEGEKEEPQSEK	VPEGEKVETPGVNKEGEKEEPQSEK	1.0	9.0	unscreened	-	3881_1:147381214-147381214 G>A_VPEGEKVETPGVNKEGEKEEPQSEK
2:179610515-179610515 G>A	0.0	3881	MELANOMA	-	-	-	-	TTN	uc002unb.3,p.R5538C|ENST00000360870,p.R5538C|NM_133379,p.R5538C	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.C16612T	p.R5538C	PIGTAAYFQCLVRGSPRPTVYWYKD	PIGTAAYFQCLVCGSPRPTVYWYKD	2.0	7.0	unscreened	-	3881_2:179610515-179610515 G>A_PIGTAAYFQCLVCGSPRPTVYWYKD
2:70904961-70904961 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1022525,COSM1592323,COSM1022526;OCCURENCE=1(endometrium)	-	ADD2	uc010fdt.2,p.R478C|uc002shc.2,p.R478C|uc002sgy.3,p.R478C|uc002sgz.3,p.R478C|ENST00000355733,p.R478C|ENST00000403045,p.R478C|NM_017488,p.R478C|uc010fdu.2,p.R494C|NM_001185055,p.R494C|ENST00000430656,p.R494C|NM_001185054,p.R478C|ENST00000264436,p.R478C|ENST00000407644,p.R478C|uc021vjc.1,p.R478C|ENST00000413157,p.R478C|NM_001617,p.R478C|NM_017482,p.R478C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vjc.1	nonsynonymous SNV	exon12	c.C1432T	p.R478C	DEVEKSSSGMPIRIENPNQFVPLYT	DEVEKSSSGMPICIENPNQFVPLYT	3.0	4.0	unscreened	-	3881_2:70904961-70904961 G>A_DEVEKSSSGMPICIENPNQFVPLYT
8:30701955-30701955 G>A	0.0	3881	MELANOMA	-	-	-	-	TEX15	NM_031271,p.P1527S|uc003xil.3,p.P1527S|ENST00000256246,p.P1527S	protein_coding, processed_transcript	uc003xil.3	nonsynonymous SNV	exon1	c.C4579T	p.P1527S	HLSTKNTTTESVPLKNTVSNPLNKR	HLSTKNTTTESVSLKNTVSNPLNKR	1.0	3.0	unscreened	-	3881_8:30701955-30701955 G>A_HLSTKNTTTESVSLKNTVSNPLNKR
1:205814473-205814473 C>T	0.0	3881	MELANOMA	-	-	-	-	PM20D1	uc001hdj.3,p.D157N|NM_152491,p.D157N|ENST00000367136,p.D157N	protein_coding, processed_transcript	uc001hdj.3	nonsynonymous SNV	exon3	c.G469A	p.D157N	ERDGIIYGRGTLDDKNSVMALLQAL	ERDGIIYGRGTLNDKNSVMALLQAL	1.0	8.0	unscreened	-	3881_1:205814473-205814473 C>T_ERDGIIYGRGTLNDKNSVMALLQAL
7:34125658-34125658 G>A	0.0	3881	MELANOMA	-	-	ID=COSM452997;OCCURENCE=1(breast)	-	BMPER	ENST00000297161,p.E567K|NM_133468,p.E567K|ENST00000426693,p.E567K|uc011kap.2,p.E567K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kap.2	nonsynonymous SNV	exon14	c.G1699A	p.E567K	RAHRECQKLKSWEFQTCHSTVDYAT	RAHRECQKLKSWKFQTCHSTVDYAT	3.0	2.0	unscreened	-	3881_7:34125658-34125658 G>A_RAHRECQKLKSWKFQTCHSTVDYAT
3:52786074-52786074 G>C	1.0	3881	MELANOMA	-	-	-	-	NEK4	uc003dfr.3,p.N414K|uc011bej.2,p.N325K|uc003dfq.4,p.N414K|ENST00000383721,p.N414K|ENST00000461689,p.N325K|ENST00000233027,p.N414K|NM_001193533,p.N325K|NM_003157,p.N414K|ENST00000535191,p.N325K	retained_intron, protein_coding, nonsense_mediated_decay	uc011bej.2	nonsynonymous SNV	exon6	c.C975G	p.N325K	SISQVEEEMLQDNTKSSAQPENLIP	SISQVEEEMLQDKTKSSAQPENLIP	8.0	9.0	-	-	3881_3:52786074-52786074 G>C_SISQVEEEMLQDKTKSSAQPENLIP
16:68598067-68598067 T>A	1.0	3881	MELANOMA	-	-	-	-	ZFP90	uc002ewe.3,p.F459L|ENST00000563169,p.F459L|ENST00000398253,p.F459L|NM_133458,p.F459L|uc002ewd.3,p.F459L|ENST00000570495,p.F459L|uc010cff.3,p.F459L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cff.3	nonsynonymous SNV	exon5	c.T1377A	p.F459L	VKSYHCNDCGEDFSHITDFTDHQRI	VKSYHCNDCGEDLSHITDFTDHQRI	7.0	8.0	unscreened	-	3881_16:68598067-68598067 T>A_VKSYHCNDCGEDLSHITDFTDHQRI
17:29233214-29233214 C>T	1.0	3881	MELANOMA	-	-	-	-	TEFM	uc002hfw.2,p.M1I|NM_024683,p.M1I|uc002hfu.2,p.M1I|ENST00000580840,p.M1I|ENST00000306049,p.M1I|ENST00000581216,p.M1I|uc010wbs.1,p.M1I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wbs.1	nonsynonymous SNV	exon1	c.G3A	p.M1I	MSGSVLFTAGERW	ISGSVLFTAGERW	7.0	8.0	unscreened	-	3881_17:29233214-29233214 C>T_ISGSVLFTAGERW
16:31196466-31196466 C>T	1.0	3881	MELANOMA	-	-	-	1	FUS	ENST00000566605,p.R244C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000566605	nonsynonymous SNV	exon6	c.C730T	p.R244C	YNRSSGGYEPRGRGGGRGGRGGMGP	YNRSSGGYEPRGCGGGRGGRGGMGP	10.0	3.0	unscreened	-	3881_16:31196466-31196466 C>T_YNRSSGGYEPRGCGGGRGGRGGMGP
3:108682317-108682317 C>T	0.0	3881	MELANOMA	-	-	-	-	MORC1	uc011bhn.2,p.D894N|ENST00000483760,p.D894N|NM_014429,p.D915N|ENST00000232603,p.D915N|uc003dxl.3,p.D915N	protein_coding	uc011bhn.2	nonsynonymous SNV	exon26	c.G2680A	p.D894N	LGQCENKRKISEDKLKNLRIKLALL	LGQCENKRKISENKLKNLRIKLALL	1.0	2.0	unscreened	-	3881_3:108682317-108682317 C>T_LGQCENKRKISENKLKNLRIKLALL
19:58578490-58578490 C>T	1.0	3881	MELANOMA	-	-	-	-	ZNF135	ENST00000401053,p.P237L|uc002qrg.3,p.P237L|uc010yhr.2,p.P34L|NM_001289401,p.P213L|uc002qrd.2,p.P225L|NM_007134,p.P237L|ENST00000511556,p.P225L|NM_001164530,p.P225L|uc010yhq.2,p.P225L|uc002qre.3,p.P213L|ENST00000359978,p.P225L|ENST00000506786,p.P171L|ENST00000313434,p.P213L|NM_003436,p.P225L|NM_001289402,p.P171L|ENST00000439855,p.P213L|uc002qrf.3,p.P171L	protein_coding, nonsense_mediated_decay	uc010yhr.2	nonsynonymous SNV	exon3	c.C101T	p.P34L	LNVLQKTCVKEKPYKCQECGKAFSH	LNVLQKTCVKEKLYKCQECGKAFSH	6.0	5.0	unscreened	-	3881_19:58578490-58578490 C>T_LNVLQKTCVKEKLYKCQECGKAFSH
X:100531436-100531436 C>T	0.0	3881	MELANOMA	-	-	-	-	TAF7L	NM_001168474,p.D258N|NM_024885,p.D344N|ENST00000356784,p.D258N|ENST00000372907,p.D344N|uc004ehb.3,p.D344N|uc004ehc.2,p.D258N	protein_coding	uc004ehc.2	nonsynonymous SNV	exon10	c.G772A	p.D258N	NDDDEDEDDEDEDEDEDEDEDEDKE	NDDDEDEDDEDENEDEDEDEDEDKE	2.0	9.0	unscreened	-	3881_X:100531436-100531436 C>T_NDDDEDEDDEDENEDEDEDEDEDKE
3:130313186-130313186 C>T	0.0	3881	MELANOMA	-	-	-	-	COL6A6	NM_001102608,p.P1511L|ENST00000453409,p.P1511L|ENST00000358511,p.P1511L|uc010htl.3,p.P1511L	protein_coding, nonsense_mediated_decay	uc010htl.3	nonsynonymous SNV	exon17	c.C4532T	p.P1511L	PGDRGAKGLRGDPGAPGVDSSIEGP	PGDRGAKGLRGDLGAPGVDSSIEGP	3.0	2.0	unscreened	-	3881_3:130313186-130313186 C>T_PGDRGAKGLRGDLGAPGVDSSIEGP
12:123471849-123471849 G>A	0.0	3881	MELANOMA	-	-	-	-	PITPNM2	ENST00000280562,p.A1125V|ENST00000392428,p.A852V|ENST00000542749,p.A1131V|uc001uek.1,p.A1125V|NM_001300801,p.A1125V|uc001uej.1,p.A1131V|ENST00000320201,p.A1131V|NM_020845,p.A1131V	retained_intron, protein_coding, processed_transcript	uc001uek.1	nonsynonymous SNV	exon23	c.C3374T	p.A1125V	SVSIMGSDPKVRAGAVDVVRHWQDL	SVSIMGSDPKVRVGAVDVVRHWQDL	4.0	6.0	unscreened	-	3881_12:123471849-123471849 G>A_SVSIMGSDPKVRVGAVDVVRHWQDL
4:84223376-84223376 C>T	0.0	3881	MELANOMA	-	-	-	-	HPSE	ENST00000513463,p.V360M|ENST00000405413,p.V418M|NM_006665,p.V418M|NM_001098540,p.V418M|uc011ccs.2,p.V161M|uc003hok.4,p.V418M|ENST00000311412,p.V418M|uc003hoi.3,p.V360M|uc003hoj.4,p.V418M|NM_001199830,p.V360M|NM_001166498,p.V344M|ENST00000512196,p.V344M|uc011cct.2,p.V344M	protein_coding, nonsense_mediated_decay	uc011cct.2	nonsynonymous SNV	exon9	c.G1030A	p.V344M	LSLLFKKLVGTKVLMASVQGSKRRK	LSLLFKKLVGTKMLMASVQGSKRRK	5.0	5.0	unscreened	-	3881_4:84223376-84223376 C>T_LSLLFKKLVGTKMLMASVQGSKRRK
7:100679355-100679355 C>T	0.0	3881	MELANOMA	-	-	-	-	MUC17	uc003uxp.1,p.S1553L|ENST00000306151,p.S1553L|NM_001040105,p.S1553L|ENST00000379439,p.S1553L	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C4658T	p.S1553L	TSTPVTTYSQASSSPTTADGTSMQT	TSTPVTTYSQASLSPTTADGTSMQT	1.0	5.0	unscreened	-	3881_7:100679355-100679355 C>T_TSTPVTTYSQASLSPTTADGTSMQT
19:17091490-17091490 C>T	0.0	3881	MELANOMA	-	-	-	-	CPAMD8	NM_015692,p.E515K|uc002nfb.3,p.E515K|ENST00000443236,p.E515K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nfb.3	nonsynonymous SNV	exon14	c.G1543A	p.E515K	QLQPPSHPLQVGEEAYFSVKSTCPC	QLQPPSHPLQVGKEAYFSVKSTCPC	4.0	4.0	unscreened	-	3881_19:17091490-17091490 C>T_QLQPPSHPLQVGKEAYFSVKSTCPC
11:20699494-20699494 G>A	0.0	3881	MELANOMA	-	-	-	-	NELL1	uc010rdo.2,p.M24I|NM_201551,p.M24I|uc001mqe.3,p.M24I|ENST00000325319,p.M24I|NM_006157,p.M24I|ENST00000532434,p.M24I|ENST00000357134,p.M24I|NM_001288714,p.M24I|uc001mqf.3,p.M24I	retained_intron, protein_coding, processed_transcript	uc010rdo.2	nonsynonymous SNV	exon2	c.G72A	p.M24I	CVCTARTVVGFGMDPDLQMDIVTEL	CVCTARTVVGFGIDPDLQMDIVTEL	1.0	4.0	unscreened	-	3881_11:20699494-20699494 G>A_CVCTARTVVGFGIDPDLQMDIVTEL
9:8449782-8449782 G>A	0.0	3881	MELANOMA	-	-	-	-	PTPRD	NM_001171025,p.P890S|ENST00000355233,p.P905S|ENST00000360074,p.P1298S|ENST00000358503,p.P1289S|NM_002839,p.P1311S|NM_130391,p.P904S|ENST00000397606,p.P890S|uc003zkk.3,p.P1311S|NM_001040712,p.P901S|uc003zkq.3,p.P904S|uc003zkr.3,p.P895S|ENST00000356435,p.P1311S|uc022bdj.1,p.P901S|uc003zks.3,p.P890S|ENST00000397611,p.P901S|ENST00000540109,p.P1311S|ENST00000397617,p.P890S|NM_130393,p.P895S|ENST00000537002,p.P901S|NM_130392,p.P905S|ENST00000486161,p.P904S|uc003zkp.3,p.P905S|ENST00000381196,p.P1311S	retained_intron, protein_coding, processed_transcript	uc022bdj.1	nonsynonymous SNV	exon18	c.C2701T	p.P901S	SRKSSIPNNKEIPSHHPTDPVELRR	SRKSSIPNNKEISSHHPTDPVELRR	2.0	2.0	unscreened	-	3881_9:8449782-8449782 G>A_SRKSSIPNNKEISSHHPTDPVELRR
2:177054052-177054052 C>T	0.0	3881	MELANOMA	-	-	-	-	HOXD1	NM_024501,p.P175S|uc002ukv.5,p.P175S|ENST00000331462,p.P175S|uc010fqy.4,p.P175S	protein_coding	uc010fqy.4	nonsynonymous SNV	exon1	c.C523T	p.P175S	FPACLKASADGHPGAFQTASPAPGT	FPACLKASADGHSGAFQTASPAPGT	2.0	7.0	unscreened	-	3881_2:177054052-177054052 C>T_FPACLKASADGHSGAFQTASPAPGT
2:227920714-227920714 C>T	0.0	3881	MELANOMA	-	-	-	-	COL4A4	NM_000092,p.G888E|uc021vxr.1,p.G888E|ENST00000329662,p.G888E|ENST00000396625,p.G888E|uc021vxs.1,p.G888E	protein_coding	uc021vxs.1	nonsynonymous SNV	exon30	c.G2663A	p.G888E	GRPGAHGPPGLPGIPGPFGDDGLPG	GRPGAHGPPGLPEIPGPFGDDGLPG	3.0	2.0	unscreened	-	3881_2:227920714-227920714 C>T_GRPGAHGPPGLPEIPGPFGDDGLPG
6:10874314-10874314 C>T	0.0	3881	MELANOMA	-	-	-	-	GCM2	NM_004752,p.D479N|uc003mzn.4,p.D479N|ENST00000379491,p.D479N	protein_coding	uc003mzn.4	nonsynonymous SNV	exon5	c.G1435A	p.D479N	PVSSRTDEAETWDVCLSGLGSAVSY	PVSSRTDEAETWNVCLSGLGSAVSY	1.0	5.0	unscreened	-	3881_6:10874314-10874314 C>T_PVSSRTDEAETWNVCLSGLGSAVSY
17:6718585-6718585 T>C	0.0	3881	MELANOMA	-	-	-	-	TEKT1	uc002gdt.3,p.K176E|uc010vth.2,p.K30E|NM_053285,p.K176E|ENST00000535086,p.K30E|ENST00000338694,p.K176E	retained_intron, protein_coding, nonsense_mediated_decay	uc010vth.2	nonsynonymous SNV	exon4	c.A88G	p.K30E	NRSAKYNLEKDLKDKFVALTIDDIC	NRSAKYNLEKDLEDKFVALTIDDIC	1.0	4.0	unscreened	-	3881_17:6718585-6718585 T>C_NRSAKYNLEKDLEDKFVALTIDDIC
19:11510616-11510616 C>T	1.0	3881	MELANOMA	-	-	-	-	RGL3	ENST00000393423,p.G560E|NM_001161616,p.G560E|uc002mro.2,p.G560E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mro.2	nonsynonymous SNV	exon16	c.G1679A	p.G560E	TSSLCISPSVSPGSPPSSPRSRDAP	TSSLCISPSVSPESPPSSPRSRDAP	9.0	2.0	unscreened	-	3881_19:11510616-11510616 C>T_TSSLCISPSVSPESPPSSPRSRDAP
14:99641885-99641885 C>T	0.0	3881	MELANOMA	-	-	-	1	BCL11B	uc001ygb.3,p.E359K|ENST00000345514,p.E359K|uc031qqh.1,p.E429K|NM_001282238,p.E358K|NM_001282237,p.E429K|ENST00000443726,p.E236K|uc001yga.3,p.E430K|NM_138576,p.E430K|uc031qqi.1,p.E358K|NM_022898,p.E359K|ENST00000357195,p.E430K	protein_coding	uc031qqi.1	nonsynonymous SNV	exon3	c.G1072A	p.E358K	PPPQPPAKSKSCEFCGKTFKFQSNL	PPPQPPAKSKSCKFCGKTFKFQSNL	4.0	8.0	unscreened	-	3881_14:99641885-99641885 C>T_PPPQPPAKSKSCKFCGKTFKFQSNL
7:141803201-141803201 G>A	0.0	3881	MELANOMA	-	-	ID=COSM230612,COSM230613;OCCURENCE=1(skin)	-	MGAM	ENST00000549489,p.V1820I|ENST00000475668,p.V2716I|uc003vwy.3,p.V1820I|NM_004668,p.V1820I	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon47	c.G5458A	p.V1820I	PVTSVSISVSGMVITPSFNNDPTTQ	PVTSVSISVSGMIITPSFNNDPTTQ	3.0	3.0	unscreened	-	3881_7:141803201-141803201 G>A_PVTSVSISVSGMIITPSFNNDPTTQ
X:64137745-64137745 C>T	0.0	3881	MELANOMA	-	-	-	-	ZC4H2	uc022byd.1,p.R175Q|NM_001243804,p.R175Q|uc004dvu.3,p.R198Q|uc011mov.2,p.R175Q|NM_001178032,p.R175Q|uc004dvv.3,p.R175Q|NM_018684,p.R198Q|uc022byc.1,p.R175Q|ENST00000374839,p.R198Q|ENST00000545618,p.R193Q|ENST00000337990,p.R175Q	protein_coding, processed_transcript	uc022byd.1	nonsynonymous SNV	exon5	c.G524A	p.R175Q	MKACLSCHQQIHRNAPICPLCKAKS	MKACLSCHQQIHQNAPICPLCKAKS	3.0	2.0	unscreened	-	3881_X:64137745-64137745 C>T_MKACLSCHQQIHQNAPICPLCKAKS
7:11452388-11452388 G>A	0.0	3881	MELANOMA	-	-	-	-	THSD7A	uc021zzo.1,p.P1193S|NM_015204,p.P1193S|ENST00000423059,p.P1193S	retained_intron, protein_coding, processed_transcript	uc021zzo.1	nonsynonymous SNV	exon18	c.C3577T	p.P1193S	CNQSSFRQRSADPIRQPADEGRSCP	CNQSSFRQRSADSIRQPADEGRSCP	2.0	8.0	unscreened	-	3881_7:11452388-11452388 G>A_CNQSSFRQRSADSIRQPADEGRSCP
3:108572656-108572656 G>A	0.0	3881	MELANOMA	-	-	-	-	TRAT1	uc003dxi.1,p.E165K|ENST00000426646,p.E128K|NM_016388,p.E165K|uc010hpx.1,p.E128K|ENST00000295756,p.E165K	protein_coding, processed_transcript	uc010hpx.1	nonsynonymous SNV	exon5	c.G382A	p.E128K	VDSFSPESQAVEENIHDDPIRLFGL	VDSFSPESQAVEKNIHDDPIRLFGL	5.0	2.0	unscreened	-	3881_3:108572656-108572656 G>A_VDSFSPESQAVEKNIHDDPIRLFGL
X:132160312-132160312 C>T	0.0	3881	MELANOMA	-	-	-	-	USP26	uc011mvf.2,p.R646Q|ENST00000370832,p.R646Q|uc010nrm.1,p.R646Q|NM_031907,p.R646Q|ENST00000406273,p.R646Q|ENST00000511190,p.R646Q	protein_coding, processed_transcript	uc011mvf.2	nonsynonymous SNV	exon1	c.G1937A	p.R646Q	KPNELESVYSGDRAFIEKEPLAHLM	KPNELESVYSGDQAFIEKEPLAHLM	1.0	3.0	unscreened	-	3881_X:132160312-132160312 C>T_KPNELESVYSGDQAFIEKEPLAHLM
19:9578233-9578233 C>T	0.0	3881	MELANOMA	-	-	-	-	ZNF560	uc002mlp.1,p.E464K|uc010dwr.1,p.E358K|ENST00000301480,p.E464K|NM_152476,p.E464K	retained_intron, protein_coding	uc010dwr.1	nonsynonymous SNV	exon10	c.G1072A	p.E358K	RVHNGEKPYEHKEYGKAFGTSSGVI	RVHNGEKPYEHKKYGKAFGTSSGVI	4.0	6.0	unscreened	-	3881_19:9578233-9578233 C>T_RVHNGEKPYEHKKYGKAFGTSSGVI
8:139158236-139158236 C>T	0.0	3881	MELANOMA	-	-	-	2	FAM135B	uc003yux.3,p.G1070E|ENST00000395297,p.G1169E|uc003yva.3,p.G731E|NM_015912,p.G1169E|uc003yuy.3,p.G1169E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yva.3	nonsynonymous SNV	exon3	c.G2192A	p.G731E	LVKTFIELGLPGGKLDFLMSEKNQM	LVKTFIELGLPGEKLDFLMSEKNQM	1.0	8.0	unscreened	-	3881_8:139158236-139158236 C>T_LVKTFIELGLPGEKLDFLMSEKNQM
1:109732244-109732244 C>A	0.0	3881	MELANOMA	-	-	-	-	KIAA1324	uc031pnl.1,p.T122K|ENST00000369939,p.T460K|uc001dwr.3,p.T110K|uc009wey.3,p.T373K|ENST00000457623,p.T410K|uc021orb.1,p.T460K|NM_001284352,p.T358K|ENST00000529753,p.T373K|uc010ovg.3,p.T358K|uc009wex.2,p.T410K|NM_001267048,p.T373K|NM_020775,p.T460K|NM_001284353,p.T122K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pnl.1	nonsynonymous SNV	exon4	c.C365A	p.T122K	MTGWEVAGDHIYTAAGASDNDFMIL	MTGWEVAGDHIYKAAGASDNDFMIL	4.0	3.0	unscreened	-	3881_1:109732244-109732244 C>A_MTGWEVAGDHIYKAAGASDNDFMIL
1:173628500-173628500 C>T	1.0	3881	MELANOMA	-	-	-	-	ANKRD45	uc001gja.1,p.E20K|NM_198493,p.E20K|uc001gjb.4,p.E20K|ENST00000333279,p.E20K	retained_intron, protein_coding	uc001gjb.4	nonsynonymous SNV	exon2	c.G58A	p.E20K	ESESSEFFSQQEEENEEEEAQEPEE	ESESSEFFSQQEKENEEEEAQEPEE	3.0	9.0	-	-	3881_1:173628500-173628500 C>T_ESESSEFFSQQEKENEEEEAQEPEE
19:57327655-57327655 C>T	0.0	3881	MELANOMA	-	-	-	-	PEG3	ENST00000326441,p.E719K|uc002qnw.2,p.E595K|NM_006210,p.E719K|uc002qnx.2,p.E593K|uc002qnu.2,p.E719K|NM_001146184,p.E719K|uc002qnt.2,p.E690K|NM_001146185,p.E593K|ENST00000598410,p.E595K|NM_001146186,p.E719K|ENST00000599534,p.E719K|uc002qnv.2,p.E719K|ENST00000593695,p.E593K|NM_001146187,p.E595K|ENST00000599577,p.E719K|ENST00000423103,p.E719K|uc010etr.2,p.E719K	protein_coding, processed_transcript	uc010etr.2	nonsynonymous SNV	exon9	c.G2155A	p.E719K	HSRKNLFEGRGYEKSVIHSGPFTES	HSRKNLFEGRGYKKSVIHSGPFTES	2.0	8.0	unscreened	-	3881_19:57327655-57327655 C>T_HSRKNLFEGRGYKKSVIHSGPFTES
19:52942175-52942175 C>T	0.0	3881	MELANOMA	-	-	-	-	ZNF534	uc002pzl.3,p.H488Y|uc002pzk.3,p.H501Y|NM_001143938,p.H488Y|ENST00000332323,p.H501Y|NM_001143939,p.H501Y|ENST00000433050,p.H488Y	protein_coding	uc002pzl.3	nonsynonymous SNV	exon4	c.C1462T	p.H488Y	SQNSNLQRHRKIHTGEKLYKCNECG	SQNSNLQRHRKIYTGEKLYKCNECG	1.0	4.0	unscreened	-	3881_19:52942175-52942175 C>T_SQNSNLQRHRKIYTGEKLYKCNECG
2:33589287-33589287 G>A	0.0	3881	MELANOMA	-	-	-	-	LTBP1	ENST00000390003,p.M1143I|ENST00000354476,p.M1469I|ENST00000272273,p.M366I|ENST00000418533,p.M1100I|uc002rov.3,p.M1089I|uc010yna.2,p.M1047I|NM_206943,p.M1468I|ENST00000407925,p.M1142I|uc002rou.3,p.M1142I|ENST00000402934,p.M1087I|NM_001166266,p.M1047I|ENST00000404816,p.M1468I|uc021vft.1,p.M1468I|ENST00000404525,p.M1089I|uc010ynb.2,p.M366I|NM_001166264,p.M1100I|NM_000627,p.M1142I|NM_001166265,p.M1089I|uc010ymz.2,p.M1100I	protein_coding, processed_transcript	uc021vft.1	nonsynonymous SNV	exon30	c.G4404A	p.M1468I	TYYDPVKLQCFDMDECQDPSSCIDG	TYYDPVKLQCFDIDECQDPSSCIDG	6.0	6.0	unscreened	-	3881_2:33589287-33589287 G>A_TYYDPVKLQCFDIDECQDPSSCIDG
22:50581636-50581636 G>A	0.0	3881	MELANOMA	-	-	-	-	MOV10L1	uc011arq.1,p.E543K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011arq.1	nonsynonymous SNV	exon12	c.G1627A	p.E543K	GPPGTGKTVTIIEAVLQVRTAAPRV	GPPGTGKTVTIIKAVLQVRTAAPRV	1.0	6.0	unscreened	-	3881_22:50581636-50581636 G>A_GPPGTGKTVTIIKAVLQVRTAAPRV
7:82582449-82582449 C>T	0.0	3881	MELANOMA	-	-	-	-	PCLO	uc003uhv.2,p.G2607E|uc003uhx.2,p.G2607E|ENST00000423517,p.G2607E|NM_014510,p.G2607E|ENST00000333891,p.G2607E|NM_033026,p.G2607E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G7820A	p.G2607E	SSASQAITSWPLGSPSKDLVSVEPV	SSASQAITSWPLESPSKDLVSVEPV	6.0	4.0	unscreened	-	3881_7:82582449-82582449 C>T_SSASQAITSWPLESPSKDLVSVEPV
17:76490902-76490902 C>T	0.0	3881	MELANOMA	-	-	-	-	DNAH17	ENST00000389840,p.D2001N|uc010dhp.2,p.D2015N|ENST00000585328,p.D2010N|NM_173628,p.D2015N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon40	c.G6043A	p.D2015N	LYTLCKELLSKQDHYDWGLRAIKSV	LYTLCKELLSKQNHYDWGLRAIKSV	1.0	5.0	unscreened	-	3881_17:76490902-76490902 C>T_LYTLCKELLSKQNHYDWGLRAIKSV
17:6387547-6387547 C>T	1.0	3881	MELANOMA	-	-	-	-	PITPNM3	NM_001165966,p.E78K|uc010cln.3,p.E78K|ENST00000421306,p.E78K|NM_031220,p.E114K|uc002gdd.4,p.E114K|ENST00000262483,p.E114K	retained_intron, protein_coding, processed_transcript	uc010cln.3	nonsynonymous SNV	exon4	c.G232A	p.E78K	QRFPAQGSIEIHEDSEEGCPQRSCK	QRFPAQGSIEIHKDSEEGCPQRSCK	4.0	9.0	-	-	3881_17:6387547-6387547 C>T_QRFPAQGSIEIHKDSEEGCPQRSCK
21:36080270-36080270 C>T	0.0	3881	MELANOMA	-	-	-	-	CLIC6	ENST00000360731,p.P523S|uc002yuf.1,p.P505S|uc010gmt.1,p.P523S|ENST00000349499,p.P505S|NM_053277,p.P505S	protein_coding	uc010gmt.1	nonsynonymous SNV	exon4	c.C1567T	p.P523S	LKRKPADLQNLAPGTNPPFMTFDGE	LKRKPADLQNLASGTNPPFMTFDGE	2.0	5.0	unscreened	-	3881_21:36080270-36080270 C>T_LKRKPADLQNLASGTNPPFMTFDGE
16:71209587-71209587 G>A	0.0	3881	MELANOMA	-	-	-	-	HYDIN	ENST00000448089,p.P147S|uc010vmc.2,p.P164S|ENST00000541601,p.P164S|NM_001198543,p.P164S|ENST00000448691,p.P147S|ENST00000393550,p.P147S|uc021tkq.2,p.P147S|uc031qwy.1,p.P147S|NM_001270974,p.P147S|NM_001198542,p.P174S|ENST00000393567,p.P147S|ENST00000288168,p.P164S|ENST00000321489,p.P147S|NM_017558,p.P147S|uc002ezw.4,p.P164S|ENST00000538248,p.P174S|uc010vmd.2,p.P174S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon5	c.C439T	p.P147S	VEESSPYFKVISPKDIGHKVAPGVP	VEESSPYFKVISSKDIGHKVAPGVP	5.0	4.0	unscreened	-	3881_16:71209587-71209587 G>A_VEESSPYFKVISSKDIGHKVAPGVP
2:196636607-196636607 G>A	0.0	3881	MELANOMA	-	-	-	-	DNAH7	uc002utj.4,p.S3737L|uc002uti.4,p.S220L|NM_018897,p.S3737L|ENST00000312428,p.S3737L|ENST00000409063,p.S220L	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon61	c.C11210T	p.S3737L	LLFDNILLTQSRSAGAGAKSSDEVV	LLFDNILLTQSRLAGAGAKSSDEVV	4.0	4.0	unscreened	-	3881_2:196636607-196636607 G>A_LLFDNILLTQSRLAGAGAKSSDEVV
19:19654982-19654982 G>A	0.0	3881	MELANOMA	-	-	-	-	CILP2	uc002nmv.4,p.R543Q|ENST00000586018,p.R549Q|ENST00000291495,p.R543Q|uc002nmw.4,p.R549Q|NM_153221,p.R543Q	retained_intron, protein_coding	uc002nmw.4	nonsynonymous SNV	exon8	c.G1646A	p.R549Q	FMDAVRVLPFDPRGAGVYHEVKAMR	FMDAVRVLPFDPQGAGVYHEVKAMR	1.0	6.0	unscreened	-	3881_19:19654982-19654982 G>A_FMDAVRVLPFDPQGAGVYHEVKAMR
17:79287657-79287657 G>A	0.0	3881	MELANOMA	0.0	-	-	-	TMEM105	ENST00000574093,p.R40W|ENST00000332900,p.R62W|uc002kad.2,p.R62W|NM_178520,p.R62W	protein_coding, processed_transcript	uc002kad.2	nonsynonymous SNV	exon3	c.C184T	p.R62W	QGPRTSPQGSPPRSPWGDCAEPSCL	QGPRTSPQGSPPWSPWGDCAEPSCL	1.0	7.0	unscreened	-	3881_17:79287657-79287657 G>A_QGPRTSPQGSPPWSPWGDCAEPSCL
2:169711899-169711899 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1009086,COSM1009087;OCCURENCE=1(large_intestine),1(endometrium)	-	NOSTRIN	ENST00000397209,p.R270Q|ENST00000444448,p.R355Q|uc010fpu.3,p.R270Q|ENST00000458381,p.R355Q|uc002ueh.3,p.R220Q|ENST00000421711,p.R270Q|NM_052946,p.R220Q|ENST00000397206,p.R220Q|NM_001039724,p.R298Q|ENST00000445023,p.R220Q|uc002uef.3,p.R355Q|NM_001171632,p.R270Q|NM_001171631,p.R355Q|ENST00000317647,p.R298Q|uc002ueg.3,p.R298Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010fpu.3	nonsynonymous SNV	exon10	c.G809A	p.R270Q	EEDPNSAMDKERRKSLLKPKLLRLQ	EEDPNSAMDKERQKSLLKPKLLRLQ	4.0	2.0	unscreened	-	3881_2:169711899-169711899 G>A_EEDPNSAMDKERQKSLLKPKLLRLQ
12:21712081-21712081 C>T	0.0	3881	MELANOMA	-	-	-	-	GYS2	uc001rfb.3,p.D418N|NM_021957,p.D418N|ENST00000261195,p.D418N	protein_coding	uc001rfb.3	nonsynonymous SNV	exon10	c.G1252A	p.D418N	DALLRGEIPDLNDILDRDDLTIMKR	DALLRGEIPDLNNILDRDDLTIMKR	1.0	8.0	unscreened	-	3881_12:21712081-21712081 C>T_DALLRGEIPDLNNILDRDDLTIMKR
3:3139613-3139613 C>T	0.0	3881	MELANOMA	-	-	-	-	IL5RA	NM_000564,p.G217D|ENST00000256452,p.G217D|uc011asm.1,p.G217D|uc010hbt.2,p.G217D|ENST00000446632,p.G217D|ENST00000430514,p.G217D|ENST00000418488,p.G217D|uc011asn.1,p.G217D|uc011asl.2,p.G217D|NM_001243099,p.G217D|uc011ask.2,p.G217D|ENST00000311981,p.G217D|uc010hbq.3,p.G217D|NM_175724,p.G217D|NM_175728,p.G217D|NM_175725,p.G217D|uc010hbu.2,p.G217D|NM_175726,p.G217D|ENST00000383846,p.G217D|ENST00000438560,p.G217D|uc010hbs.3,p.G217D|ENST00000456302,p.G217D|NM_175727,p.G217D	protein_coding, processed_transcript	uc011asn.1	nonsynonymous SNV	exon8	c.G650A	p.G217D	SKGRDWLAVLVNGSSKHSAIRPFDQ	SKGRDWLAVLVNDSSKHSAIRPFDQ	1.0	9.0	unscreened	-	3881_3:3139613-3139613 C>T_SKGRDWLAVLVNDSSKHSAIRPFDQ
7:4285376-4285376 G>A	0.0	3881	MELANOMA	-	-	-	-	SDK1	uc003smy.3,p.G594D|ENST00000404826,p.G2107D|NM_152744,p.G2107D|uc003smx.3,p.G2107D|uc003smz.3,p.G167D|ENST00000389531,p.G2087D|NM_001079653,p.G594D|uc010kso.3,p.G1363D	retained_intron, protein_coding, processed_transcript	uc010kso.3	nonsynonymous SNV	exon29	c.G4088A	p.G1363D	HYSDEDICNKYNGAVLTESVSLKEK	HYSDEDICNKYNDAVLTESVSLKEK	2.0	2.0	unscreened	-	3881_7:4285376-4285376 G>A_HYSDEDICNKYNDAVLTESVSLKEK
14:71209127-71209127 C>T	1.0	3881	MELANOMA	-	-	-	-	MAP3K9	NM_033141,p.G503D|NM_001284231,p.G240D|ENST00000381250,p.G503D|uc010ttk.2,p.G240D|uc001xml.3,p.G503D|uc001xmm.3,p.G503D|NM_001284230,p.G503D|ENST00000554146,p.G240D|ENST00000555993,p.G503D|uc001xmk.3,p.G197D|ENST00000553414,p.G197D|NM_001284232,p.G197D|ENST00000554752,p.G503D	retained_intron, protein_coding	uc010ttk.2	nonsynonymous SNV	exon6	c.G719A	p.G240D	LCQEKPRVKKRKGKFRKSRLKLKDG	LCQEKPRVKKRKDKFRKSRLKLKDG	4.0	7.0	unscreened	-	3881_14:71209127-71209127 C>T_LCQEKPRVKKRKDKFRKSRLKLKDG
5:131411453-131411453 A>G	0.0	3881	MELANOMA	-	-	-	-	CSF2	NM_000758,p.T115A|uc003kwf.4,p.T115A|ENST00000296871,p.T115A	protein_coding	uc003kwf.4	nonsynonymous SNV	exon4	c.A343G	p.T115A	QHCPPTPETSCATQIITFESFKENL	QHCPPTPETSCAAQIITFESFKENL	2.0	5.0	unscreened	-	3881_5:131411453-131411453 A>G_QHCPPTPETSCAAQIITFESFKENL
7:141799434-141799434 G>A	0.0	3881	MELANOMA	-	-	-	-	MGAM	ENST00000549489,p.G1695R|uc003vwy.3,p.G1695R|NM_004668,p.G1695R|ENST00000475668,p.G2591R	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon44	c.G5083A	p.G1695R	YDYYTGVDINARGEWKTLPAPLDHI	YDYYTGVDINARREWKTLPAPLDHI	3.0	6.0	unscreened	-	3881_7:141799434-141799434 G>A_YDYYTGVDINARREWKTLPAPLDHI
16:84209875-84209875 G>A	0.0	3881	MELANOMA	-	-	-	-	DNAAF1	ENST00000569735,p.D113N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	ENST00000569735	nonsynonymous SNV	exon1	c.G337A	p.D113N	RDAAPLTSSGDRDSDFLAASSPEMG	RDAAPLTSSGDRNSDFLAASSPEMG	4.0	8.0	unscreened	-	3881_16:84209875-84209875 G>A_RDAAPLTSSGDRNSDFLAASSPEMG
8:24774743-24774743 G>A	0.0	3881	MELANOMA	-	-	-	-	NEFM	NM_005382,p.E459K|ENST00000437366,p.E459K|uc003xed.4,p.E459K|ENST00000433454,p.E83K|uc011lac.1,p.E459K|ENST00000221166,p.E459K|ENST00000518131,p.E459K|uc010lue.3,p.E83K|NM_001105541,p.E83K	protein_coding, processed_transcript	uc011lac.1	nonsynonymous SNV	exon3	c.G1375A	p.E459K	KVQHKFVEEIIEETKVEDEKSEMEE	KVQHKFVEEIIEKTKVEDEKSEMEE	1.0	2.0	unscreened	-	3881_8:24774743-24774743 G>A_KVQHKFVEEIIEKTKVEDEKSEMEE
12:129559265-129559265 C>T	0.0	3881	MELANOMA	-	-	-	-	TMEM132D	ENST00000389441,p.E357K|ENST00000422113,p.E819K|uc009zyl.1,p.E819K|NM_133448,p.E819K|uc001uia.2,p.E357K	protein_coding	uc009zyl.1	nonsynonymous SNV	exon9	c.G2455A	p.E819K	SDSRHTGAGVHMENNVSDRRPKKPS	SDSRHTGAGVHMKNNVSDRRPKKPS	1.0	3.0	unscreened	-	3881_12:129559265-129559265 C>T_SDSRHTGAGVHMKNNVSDRRPKKPS
11:55607138-55607138 G>A	0.0	3881	MELANOMA	-	-	-	-	OR5D16	ENST00000378396,p.R304Q|NM_001005496,p.R304Q|uc010rio.2,p.R304Q	protein_coding	uc010rio.2	nonsynonymous SNV	exon1	c.G911A	p.R304Q	YSLRNKDVKDAIRKIINTKYFHIKH	YSLRNKDVKDAIQKIINTKYFHIKH	1.0	4.0	unscreened	-	3881_11:55607138-55607138 G>A_YSLRNKDVKDAIQKIINTKYFHIKH
17:2996137-2996137 C>T	0.0	3881	MELANOMA	-	-	-	-	OR1D2	ENST00000331459,p.D52N|NM_002548,p.D52N|uc010vrb.2,p.D52N	protein_coding	uc010vrb.2	nonsynonymous SNV	exon1	c.G154A	p.D52N	VGNVLIILAISSDSRLHTPVYFFLA	VGNVLIILAISSNSRLHTPVYFFLA	1.0	8.0	unscreened	-	3881_17:2996137-2996137 C>T_VGNVLIILAISSNSRLHTPVYFFLA
6:38941518-38941518 G>A	0.0	3881	MELANOMA	-	-	-	-	DNAH8	uc003ooe.2,p.A3986T|ENST00000441566,p.A3950T|uc021yzh.1,p.A4203T|ENST00000359357,p.A3986T|ENST00000327475,p.A4191T|uc003oog.1,p.A435T|NM_001206927,p.A4203T	protein_coding	uc021yzh.1	nonsynonymous SNV	exon84	c.G12607A	p.A4203T	MEELLETLITTEASDDSFRVWITTE	MEELLETLITTETSDDSFRVWITTE	1.0	2.0	unscreened	-	3881_6:38941518-38941518 G>A_MEELLETLITTETSDDSFRVWITTE
22:40711372-40711372 C>A	1.0	3881	MELANOMA	-	-	-	-	TNRC6B	NM_001162501,p.N1588K|NM_001024843,p.N784K|ENST00000454349,p.N1588K|ENST00000301923,p.N784K|ENST00000335727,p.N1478K|uc031rxt.1,p.N784K|NM_015088,p.N1478K|uc003ayn.4,p.N1478K|ENST00000402203,p.N784K|uc003aym.3,p.N784K|uc003ayo.3,p.N1335K|uc011aor.2,p.N1588K	retained_intron, protein_coding, processed_transcript	uc031rxt.1	nonsynonymous SNV	exon21	c.C2352A	p.N784K	HNPTHLSNKMWKNHISSRNTTPLPR	HNPTHLSNKMWKKHISSRNTTPLPR	9.0	5.0	unscreened	-	3881_22:40711372-40711372 C>A_HNPTHLSNKMWKKHISSRNTTPLPR
12:101587416-101587416 A>T	0.0	3881	MELANOMA	-	-	-	-	SLC5A8	uc001thz.4,p.L227I|NM_145913,p.L227I|ENST00000536262,p.L227I	protein_coding	uc001thz.4	nonsynonymous SNV	exon5	c.T679A	p.L227I	STILNDAYDGGRLNFWNFNPNPLQR	STILNDAYDGGRINFWNFNPNPLQR	1.0	7.0	unscreened	-	3881_12:101587416-101587416 A>T_STILNDAYDGGRINFWNFNPNPLQR
16:84209875-84209875 G>A	0.0	3881	MELANOMA	-	-	-	-	DNAAF1	NM_178452,p.D679N|uc002fhl.4,p.D679N|uc010vnw.2,p.D443N|ENST00000378553,p.D679N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc010vnw.2	nonsynonymous SNV	exon7	c.G1327A	p.D443N	RDAAPLTSSGDRDSDFLAASSPVPT	RDAAPLTSSGDRNSDFLAASSPVPT	4.0	8.0	unscreened	-	3881_16:84209875-84209875 G>A_RDAAPLTSSGDRNSDFLAASSPVPT
12:96415987-96415987 G>A	1.0	3881	MELANOMA	-	-	-	-	LTA4H	ENST00000413268,p.R151C|uc010suz.2,p.R151C|ENST00000552789,p.R151C|NM_001256643,p.R151C|NM_001256644,p.R151C|NM_000895,p.R175C|uc001ten.2,p.R175C|ENST00000228740,p.R175C|uc010suy.2,p.R151C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010suz.2	nonsynonymous SNV	exon5	c.C451T	p.R151C	VPKELVALMSAIRDGETPDPEDPSR	VPKELVALMSAICDGETPDPEDPSR	10.0	4.0	unscreened	-	3881_12:96415987-96415987 G>A_VPKELVALMSAICDGETPDPEDPSR
2:168103996-168103996 C>T	0.0	3881	MELANOMA	-	-	-	-	XIRP2	ENST00000295237,p.R2032C|uc002udx.3,p.R2032C|NM_152381,p.R2032C|ENST00000409273,p.R1810C|uc002udy.3,p.R1857C|ENST00000409195,p.R2032C|uc010fpq.3,p.R1810C|NM_001199144,p.R1810C	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C5428T	p.R1810C	KAPKGTVKIVIDREQNNDALEKSLR	KAPKGTVKIVIDCEQNNDALEKSLR	1.0	3.0	unscreened	-	3881_2:168103996-168103996 C>T_KAPKGTVKIVIDCEQNNDALEKSLR
7:123296286-123296286 G>A	0.0	3881	MELANOMA	-	-	-	-	LMOD2	ENST00000456238,p.G90E	protein_coding	ENST00000456238	nonsynonymous SNV	exon1	c.G269A	p.G90E	QKLLEKERLGECGKVKKQPNSILKE	QKLLEKERLGECEKVKKQPNSILKE	1.0	2.0	unscreened	-	3881_7:123296286-123296286 G>A_QKLLEKERLGECEKVKKQPNSILKE
11:92495220-92495220 G>A	0.0	3881	MELANOMA	-	-	-	2	FAT3	uc001pdj.4,p.E1290K|ENST00000298047,p.E1290K|NM_001008781,p.E1290K|ENST00000409404,p.E1290K|ENST00000525166,p.E1140K	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon4	c.G3868A	p.E1290K	AFAFDRDEGPNAEISYSIVDGNDDG	AFAFDRDEGPNAKISYSIVDGNDDG	1.0	4.0	unscreened	-	3881_11:92495220-92495220 G>A_AFAFDRDEGPNAKISYSIVDGNDDG
12:81851645-81851645 C>T	0.0	3881	MELANOMA	-	-	-	-	PPFIA2	uc031qir.1,p.E102K|NM_001220475,p.E102K|uc031qix.1,p.E102K|ENST00000548586,p.E102K|ENST00000550584,p.E102K|uc031qim.1,p.E102K|NM_001220476,p.E102K|ENST00000547623,p.E102K|uc031qip.1,p.E102K|NM_003625,p.E102K|uc031qiw.1,p.E102K|uc031qiy.1,p.E102K|NM_001220473,p.E102K|uc031qis.1,p.E102K|uc031qio.1,p.E102K|ENST00000549396,p.E102K|ENST00000552948,p.E102K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiy.1	nonsynonymous SNV	exon3	c.G304A	p.E102K	GGLAGSKGADPPEFAALTKELNACR	GGLAGSKGADPPKFAALTKELNACR	3.0	7.0	unscreened	-	3881_12:81851645-81851645 C>T_GGLAGSKGADPPKFAALTKELNACR
5:149460482-149460482 C>T	0.0	3881	MELANOMA	-	-	-	2	CSF1R	NM_005211,p.G52D|ENST00000504875,p.G52D|NM_001288705,p.G52D|uc003lrl.3,p.G52D|uc003lrm.3,p.G52D|uc011dce.1,p.G52D|ENST00000543093,p.G52D|uc011dcf.2,p.G52D|ENST00000286301,p.G52D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dcf.2	nonsynonymous SNV	exon2	c.G155A	p.G52D	LRCVGNGSVEWDGPPSPHWTLYSDG	LRCVGNGSVEWDDPPSPHWTLYSDG	7.0	6.0	unscreened	-	3881_5:149460482-149460482 C>T_LRCVGNGSVEWDDPPSPHWTLYSDG
12:2690884-2690884 G>A	0.0	3881	MELANOMA	-	-	-	-	CACNA1C	uc001qkr.2,p.G675E|uc009zdu.1,p.G675E|ENST00000480911,p.G675E|uc001qkc.2,p.G675E|NM_001129836,p.G675E|ENST00000399603,p.G675E|NM_001129843,p.G675E|NM_001129831,p.G675E|ENST00000399629,p.G675E|NM_001167625,p.G675E|NM_000719,p.G675E|NM_001129835,p.G675E|NM_001129833,p.G675E|uc001qkg.2,p.G675E|NM_001129842,p.G675E|ENST00000399621,p.G675E|uc001qke.2,p.G675E|NM_001129841,p.G675E|uc001qkm.2,p.G675E|ENST00000399655,p.G675E|NM_001129832,p.G675E|ENST00000406454,p.G675E|NM_001129827,p.G675E|uc001qkt.2,p.G675E|ENST00000399637,p.G675E|ENST00000347598,p.G675E|uc009zdv.1,p.G672E|uc001qjz.2,p.G675E|ENST00000399597,p.G675E|ENST00000327702,p.G675E|uc001qkf.2,p.G675E|NM_199460,p.G675E|NM_001129830,p.G675E|ENST00000399595,p.G675E|ENST00000402845,p.G675E|uc001qkb.2,p.G675E|NM_001167624,p.G675E|uc009zdw.1,p.G675E|uc001qkp.2,p.G675E|uc001qkd.2,p.G675E|NM_001129846,p.G675E|ENST00000399644,p.G675E|ENST00000399638,p.G675E|NM_001129839,p.G675E|ENST00000399601,p.G675E|uc001qkh.2,p.G675E|ENST00000344100,p.G675E|ENST00000335762,p.G700E|ENST00000399634,p.G675E|ENST00000399617,p.G675E|uc001qko.2,p.G675E|NM_001129829,p.G675E|uc001qks.2,p.G675E|NM_001129844,p.G672E|uc001qku.2,p.G675E|uc001qka.1,p.G210E|ENST00000399641,p.G675E|uc001qkk.2,p.G675E|uc001qkl.2,p.G675E|NM_001129834,p.G675E|uc001qkn.2,p.G675E|NM_001129838,p.G675E|NM_001129837,p.G675E|ENST00000399649,p.G675E|NM_001167623,p.G675E|NM_001129840,p.G675E|ENST00000399606,p.G675E|ENST00000399591,p.G675E|uc001qki.1,p.G411E|uc001qkq.2,p.G675E|uc001qkj.2,p.G675E	retained_intron, protein_coding, processed_transcript	uc009zdw.1	nonsynonymous SNV	exon14	c.G2024A	p.G675E	IIFSLLGMQLFGGKFNFDEMQTRRS	IIFSLLGMQLFGEKFNFDEMQTRRS	3.0	3.0	unscreened	-	3881_12:2690884-2690884 G>A_IIFSLLGMQLFGEKFNFDEMQTRRS
18:28722020-28722020 C>T	0.0	3881	MELANOMA	-	-	ID=COSM232209,COSM232210;OCCURENCE=1(skin)	-	DSC1	NM_024421,p.G401E|ENST00000257198,p.G401E|ENST00000257197,p.G401E|uc002kwm.3,p.G401E|uc002kwn.3,p.G401E|NM_004948,p.G401E	protein_coding	uc002kwn.3	nonsynonymous SNV	exon9	c.G1202A	p.G401E	KAVYKILQGNENGNFIISTDPNTNE	KAVYKILQGNENENFIISTDPNTNE	1.0	3.0	unscreened	-	3881_18:28722020-28722020 C>T_KAVYKILQGNENENFIISTDPNTNE
1:157771842-157771842 C>T	0.0	3881	MELANOMA	-	-	-	-	FCRL1	ENST00000358292,p.G250E|NM_001159397,p.G250E|NM_001159398,p.G250E|uc001fri.3,p.G250E|NM_052938,p.G250E|uc001frg.3,p.G250E|ENST00000368176,p.G250E|uc001frh.3,p.G250E|ENST00000491942,p.G250E	protein_coding, processed_transcript	uc001fri.3	nonsynonymous SNV	exon5	c.G749A	p.G250E	ILYWFYHEDITLGSRSAPSGGGASF	ILYWFYHEDITLESRSAPSGGGASF	4.0	2.0	unscreened	-	3881_1:157771842-157771842 C>T_ILYWFYHEDITLESRSAPSGGGASF
11:18291374-18291374 G>A	0.0	3881	MELANOMA	-	-	-	-	SAA1	ENST00000532858,p.R114Q|uc021qem.1,p.R114Q|NM_000331,p.R114Q|uc021qeo.1,p.R114Q|ENST00000405158,p.R114Q|ENST00000356524,p.R114Q|NM_199161,p.R114Q|NM_001178006,p.R114Q|uc021qen.1,p.R114Q	protein_coding	uc021qeo.1	nonsynonymous SNV	exon4	c.G341A	p.R114Q	EWGRSGKDPNHFRPAGLPEKY	EWGRSGKDPNHFQPAGLPEKY	2.0	3.0	unscreened	-	3881_11:18291374-18291374 G>A_EWGRSGKDPNHFQPAGLPEKY
8:110131592-110131592 G>A	0.0	3881	MELANOMA	-	-	-	-	TRHR	NM_003301,p.D369N|uc003ymz.4,p.D369N|ENST00000311762,p.D369N|ENST00000518632,p.D369N	protein_coding	uc003ymz.4	nonsynonymous SNV	exon2	c.G1105A	p.D369N	IKESDHFSTELDDITVTDTYLSATK	IKESDHFSTELDNITVTDTYLSATK	1.0	5.0	unscreened	-	3881_8:110131592-110131592 G>A_IKESDHFSTELDNITVTDTYLSATK
7:103032106-103032106 C>T	0.0	3881	MELANOMA	-	-	ID=COSM3431038,COSM3431036,COSM3431037;OCCURENCE=1(large_intestine)	-	SLC26A5	ENST00000306312,p.R399Q|NM_206884,p.R399Q|ENST00000423416,p.R399Q|ENST00000393735,p.R399Q|ENST00000393730,p.R399Q|NM_001167962,p.R399Q|NM_206883,p.R399Q|uc003vbz.3,p.R399Q|uc003vbt.2,p.R399Q|ENST00000454864,p.R399Q|ENST00000432958,p.R399Q|ENST00000393729,p.R362Q|ENST00000393723,p.R399Q|uc003vbx.3,p.R399Q|ENST00000339444,p.R399Q|uc003vbu.2,p.R399Q|NM_198999,p.R399Q|ENST00000393727,p.R399Q	retained_intron, protein_coding, nonsense_mediated_decay	uc003vbz.3	nonsynonymous SNV	exon11	c.G1196A	p.R399Q	LFQTFSISCSLSRSLVQEGTGGKTQ	LFQTFSISCSLSQSLVQEGTGGKTQ	1.0	3.0	unscreened	-	3881_7:103032106-103032106 C>T_LFQTFSISCSLSQSLVQEGTGGKTQ
4:134084189-134084189 G>A	0.0	3881	MELANOMA	-	-	-	-	PCDH10	NM_032961,p.R952Q|ENST00000264360,p.R952Q|uc003iha.3,p.R952Q	retained_intron, protein_coding	uc003iha.3	nonsynonymous SNV	exon4	c.G2855A	p.R952Q	CTEECKALGHSDRCWMPSFVPSDGR	CTEECKALGHSDQCWMPSFVPSDGR	3.0	2.0	unscreened	-	3881_4:134084189-134084189 G>A_CTEECKALGHSDQCWMPSFVPSDGR
12:53421577-53421577 C>T	1.0	3881	MELANOMA	-	-	ID=COSM274949;OCCURENCE=1(large_intestine)	-	EIF4B	ENST00000262056,p.R227C|uc010snu.2,p.R227C|NM_001417,p.R227C|NM_001300821,p.R227C|ENST00000420463,p.R227C|uc010snv.2,p.R188C|uc001sbh.4,p.R227C|ENST00000416762,p.R188C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010snv.2	nonsynonymous SNV	exon6	c.C562T	p.R188C	RGDDSFGDKYRDRYDSDRYRDGYRD	RGDDSFGDKYRDCYDSDRYRDGYRD	10.0	5.0	unscreened	-	3881_12:53421577-53421577 C>T_RGDDSFGDKYRDCYDSDRYRDGYRD
17:18923207-18923207 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC5A10	ENST00000395642,p.G501E|NM_001282417,p.G501E|uc010vyl.2,p.G495E|NM_001270648,p.G504E|uc002guu.2,p.G531E|ENST00000417251,p.G495E|ENST00000395643,p.G504E|uc002guv.2,p.G504E|ENST00000395647,p.G547E|ENST00000317977,p.G501E|NM_152351,p.G547E|NM_001270649,p.G495E|uc002gut.2,p.G547E|NM_001042450,p.G531E|ENST00000395645,p.G531E|uc002gur.2,p.G501E	retained_intron, protein_coding	uc010vyl.2	nonsynonymous SNV	exon12	c.G1484A	p.G495E	ALFALSGAVVVAGSLLTPPPQSVQI	ALFALSGAVVVAESLLTPPPQSVQI	2.0	8.0	unscreened	-	3881_17:18923207-18923207 G>A_ALFALSGAVVVAESLLTPPPQSVQI
1:57476895-57476895 G>A	0.0	3881	MELANOMA	-	-	-	-	DAB1	uc009vzx.1,p.H499Y|uc009vzw.1,p.H481Y|uc001cyq.1,p.H497Y|ENST00000371234,p.H499Y|ENST00000439789,p.H413Y|ENST00000371231,p.H532Y|uc001cys.1,p.H499Y|NM_021080,p.H499Y|ENST00000420954,p.H497Y|ENST00000414851,p.H481Y|ENST00000371236,p.H499Y|uc001cyt.1,p.H497Y|uc001cyr.1,p.H413Y	protein_coding, processed_transcript	uc009vzx.1	nonsynonymous SNV	exon13	c.C1495T	p.H499Y	PRQSSPSKSSASHASDPTTDDIFEE	PRQSSPSKSSASYASDPTTDDIFEE	1.0	6.0	unscreened	-	3881_1:57476895-57476895 G>A_PRQSSPSKSSASYASDPTTDDIFEE
10:119305143-119305143 G>A	0.0	3881	MELANOMA	-	-	-	-	EMX2	NM_004098,p.G136E|uc001ldh.4,p.G136E|ENST00000553456,p.G136E	protein_coding, processed_transcript	uc001ldh.4	nonsynonymous SNV	exon2	c.G407A	p.G136E	IHRYRYLGHRFQGNDTSPESFLLHN	IHRYRYLGHRFQENDTSPESFLLHN	2.0	2.0	unscreened	-	3881_10:119305143-119305143 G>A_IHRYRYLGHRFQENDTSPESFLLHN
2:185802956-185802956 C>T	0.0	3881	MELANOMA	-	-	-	-	ZNF804A	ENST00000302277,p.L945F|uc002uph.3,p.L945F|NM_194250,p.L945F	protein_coding	uc002uph.3	nonsynonymous SNV	exon4	c.C2833T	p.L945F	LLEHKERSENINLNEKQIPFQVPNI	LLEHKERSENINFNEKQIPFQVPNI	2.0	2.0	unscreened	-	3881_2:185802956-185802956 C>T_LLEHKERSENINFNEKQIPFQVPNI
X:99945084-99945084 G>A	0.0	3881	MELANOMA	-	-	-	-	SYTL4	NM_080737,p.L266F|ENST00000263033,p.L266F|uc004ege.4,p.L266F|NM_001129896,p.L266F|NM_001174068,p.L266F|uc004egd.4,p.L266F|uc004egg.4,p.L266F|uc010nnc.3,p.L266F|ENST00000372989,p.L266F|uc004egf.4,p.L266F|ENST00000276141,p.L266F|ENST00000454200,p.L267F|ENST00000372981,p.L266F|ENST00000455616,p.L266F	protein_coding, processed_transcript	uc010nnc.3	nonsynonymous SNV	exon8	c.C796T	p.L266F	GEMIFKKNTRKILRPSEYTKSVIDL	GEMIFKKNTRKIFRPSEYTKSVIDL	1.0	3.0	unscreened	-	3881_X:99945084-99945084 G>A_GEMIFKKNTRKIFRPSEYTKSVIDL
X:135429821-135429821 C>T	0.0	3881	MELANOMA	-	-	-	-	GPR112	NM_153834,p.P1319L|ENST00000412101,p.P1114L|uc010nsc.1,p.P1086L|ENST00000287534,p.P1256L|ENST00000394141,p.P1114L|ENST00000370652,p.P1319L|uc004ezu.1,p.P1319L|uc010nsb.1,p.P1114L|ENST00000394143,p.P1319L	protein_coding	uc010nsc.1	nonsynonymous SNV	exon1	c.C3257T	p.P1086L	ISSHQTHSPSEIPLGTPSDGNLASS	ISSHQTHSPSEILLGTPSDGNLASS	1.0	2.0	unscreened	-	3881_X:135429821-135429821 C>T_ISSHQTHSPSEILLGTPSDGNLASS
20:31606597-31606597 G>A	0.0	3881	MELANOMA	-	-	-	-	BPIFB2	ENST00000170150,p.G275D|uc002wyj.4,p.G275D|NM_025227,p.G275D	protein_coding	uc002wyj.4	nonsynonymous SNV	exon9	c.G824A	p.G275D	LFDSALLLLQKAGALNLDITGQLRS	LFDSALLLLQKADALNLDITGQLRS	1.0	3.0	unscreened	-	3881_20:31606597-31606597 G>A_LFDSALLLLQKADALNLDITGQLRS
8:88885923-88885923 C>T	0.0	3881	MELANOMA	-	-	-	-	DCAF4L2	uc003ydz.3,p.E93K|NM_152418,p.E93K|ENST00000319675,p.E93K	protein_coding	uc003ydz.3	nonsynonymous SNV	exon1	c.G277A	p.E93K	TNTDQLFTVNQVEAGGSKYGIITMR	TNTDQLFTVNQVKAGGSKYGIITMR	1.0	4.0	unscreened	-	3881_8:88885923-88885923 C>T_TNTDQLFTVNQVKAGGSKYGIITMR
7:142571893-142571893 C>T	0.0	3881	MELANOMA	-	-	-	-	TRPV6	NM_018646,p.M485I|ENST00000436401,p.M108I|ENST00000359396,p.M485I|uc003wbx.2,p.M485I|uc003wbw.1,p.M271I|uc010lou.1,p.M356I	retained_intron, protein_coding	uc010lou.1	nonsynonymous SNV	exon9	c.G1068A	p.M356I	QMLGPFTIMIQKMIFGDLMRFCWLM	QMLGPFTIMIQKIIFGDLMRFCWLM	1.0	4.0	unscreened	-	3881_7:142571893-142571893 C>T_QMLGPFTIMIQKIIFGDLMRFCWLM
16:28331760-28331760 G>A	0.0	3881	MELANOMA	-	-	-	-	SBK1	ENST00000341901,p.E265K|NM_001024401,p.E265K|uc002dpd.3,p.E265K	protein_coding	uc002dpd.3	nonsynonymous SNV	exon4	c.G793A	p.E265K	WEAASGADAFFEEFVRWQRGRLPGL	WEAASGADAFFEKFVRWQRGRLPGL	1.0	7.0	unscreened	-	3881_16:28331760-28331760 G>A_WEAASGADAFFEKFVRWQRGRLPGL
20:45131478-45131478 C>T	0.0	3881	MELANOMA	-	-	-	-	ZNF334	ENST00000347606,p.G167E|uc002xsc.4,p.G167E|uc002xsa.4,p.G190E|NM_018102,p.G167E|uc031rtw.1,p.G129E|ENST00000593880,p.G190E|uc010ghl.4,p.G166E|uc002xsd.4,p.G129E|ENST00000457685,p.G129E|NM_001270497,p.G166E|uc002xsb.4,p.G129E|ENST00000596323,p.G129E	protein_coding	uc031rtw.1	nonsynonymous SNV	exon5	c.G386A	p.G129E	SKENRKIPDGYSGFGKHEKSHLGMK	SKENRKIPDGYSEFGKHEKSHLGMK	3.0	2.0	unscreened	-	3881_20:45131478-45131478 C>T_SKENRKIPDGYSEFGKHEKSHLGMK
17:10416048-10416048 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1709872;OCCURENCE=1(skin)	-	MYH1	ENST00000226207,p.E320K|uc002gmo.3,p.E320K|NM_005963,p.E320K	protein_coding	uc002gmo.3	nonsynonymous SNV	exon11	c.G958A	p.E320K	TNPYDYAFVSQGEITVPSIDDQEEL	TNPYDYAFVSQGKITVPSIDDQEEL	1.0	5.0	unscreened	-	3881_17:10416048-10416048 C>T_TNPYDYAFVSQGKITVPSIDDQEEL
X:103041557-103041557 G>A	0.0	3881	MELANOMA	-	-	ID=COSM4156491;OCCURENCE=1(thyroid)	-	PLP1	ENST00000455268,p.G119R|uc010now.1,p.G123R|ENST00000303958,p.G119R|uc010nov.3,p.G119R|uc011msf.2,p.G64R|ENST00000429977,p.G119R|uc004elk.3,p.G119R|NM_001128834,p.G119R|uc010nox.3,p.G73R|NM_000533,p.G119R|ENST00000418604,p.G119R	retained_intron, protein_coding, processed_transcript	uc011msf.2	nonsynonymous SNV	exon3	c.G190A	p.G64R	TICGKGLSATVTGGQKGRGSRGQHQ	TICGKGLSATVTRGQKGRGSRGQHQ	10.0	4.0	unscreened	-	3881_X:103041557-103041557 G>A_TICGKGLSATVTRGQKGRGSRGQHQ
19:43243158-43243158 C>T	0.0	3881	MELANOMA	-	-	-	-	PSG3	ENST00000595140,p.D50N|NM_021016,p.D50N|uc002oue.3,p.D50N|ENST00000327495,p.D50N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oue.3	nonsynonymous SNV	exon2	c.G148A	p.D50N	IEAEPTKVSKGKDVLLLVHNLPQNL	IEAEPTKVSKGKNVLLLVHNLPQNL	1.0	8.0	unscreened	-	3881_19:43243158-43243158 C>T_IEAEPTKVSKGKNVLLLVHNLPQNL
15:28412946-28412946 G>A	1.0	3881	MELANOMA	-	-	-	-	HERC2	ENST00000261609,p.P3481S|uc001zbj.4,p.P3481S|NM_004667,p.P3481S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zbj.4	nonsynonymous SNV	exon68	c.C10441T	p.P3481S	KREIVSSEDAVTPSAVTPSAPSASA	KREIVSSEDAVTSSAVTPSAPSASA	9.0	5.0	unscreened	-	3881_15:28412946-28412946 G>A_KREIVSSEDAVTSSAVTPSAPSASA
5:140308647-140308647 G>A	1.0	3881	MELANOMA	-	-	-	-	PCDHAC1	uc003lig.1,p.D724N|ENST00000409700,p.D724N|uc003lih.2,p.D724N|ENST00000253807,p.D724N|NM_018898,p.D724N|NM_031882,p.D724N	protein_coding	uc003lih.2	nonsynonymous SNV	exon1	c.G2170A	p.D724N	GCCAQSCCRSTEDLRYGSKMVSNPC	GCCAQSCCRSTENLRYGSKMVSNPC	4.0	3.0	unscreened	-	3881_5:140308647-140308647 G>A_GCCAQSCCRSTENLRYGSKMVSNPC
X:135429820-135429820 C>T	0.0	3881	MELANOMA	-	-	-	-	GPR112	uc010nsc.1,p.P1086S|ENST00000287534,p.P1256S|ENST00000394143,p.P1319S|uc010nsb.1,p.P1114S|ENST00000412101,p.P1114S|uc004ezu.1,p.P1319S|NM_153834,p.P1319S|ENST00000370652,p.P1319S|ENST00000394141,p.P1114S	protein_coding	uc010nsc.1	nonsynonymous SNV	exon1	c.C3256T	p.P1086S	ISSHQTHSPSEIPLGTPSDGNLASS	ISSHQTHSPSEISLGTPSDGNLASS	1.0	2.0	unscreened	-	3881_X:135429820-135429820 C>T_ISSHQTHSPSEISLGTPSDGNLASS
3:53855788-53855788 C>T	0.0	3881	MELANOMA	-	-	-	-	CHDH	uc003dgz.3,p.E291K|NM_018397,p.E291K|ENST00000315251,p.E291K	protein_coding	uc003dgz.3	nonsynonymous SNV	exon5	c.G871A	p.E291K	KNGQSHRAYASKEVILSGGAINSPQ	KNGQSHRAYASKKVILSGGAINSPQ	2.0	3.0	unscreened	-	3881_3:53855788-53855788 C>T_KNGQSHRAYASKKVILSGGAINSPQ
7:20824382-20824382 A>T	0.0	3881	MELANOMA	-	-	-	-	SP8	ENST00000418710,p.C352S|uc003suy.3,p.C334S|NM_182700,p.C352S|uc022aak.1,p.C334S|ENST00000361443,p.C334S|uc003suz.3,p.C352S|NM_198956,p.C334S	protein_coding	uc022aak.1	nonsynonymous SNV	exon1	c.T1000A	p.C334S	SARRYSGRATCDCPNCQEAERLGPA	SARRYSGRATCDSPNCQEAERLGPA	4.0	3.0	unscreened	-	3881_7:20824382-20824382 A>T_SARRYSGRATCDSPNCQEAERLGPA
2:113940833-113940833 C>T	0.0	3881	MELANOMA	-	-	-	-	PSD4	uc002tjc.3,p.S267F|NM_012455,p.S267F|ENST00000441564,p.S267F|uc002tje.3,p.S266F|ENST00000245796,p.S267F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tje.3	nonsynonymous SNV	exon2	c.C797T	p.S266F	PCSENSASGECFSWGASDSHAGVRT	PCSENSASGECFFWGASDSHAGVRT	5.0	3.0	unscreened	-	3881_2:113940833-113940833 C>T_PCSENSASGECFFWGASDSHAGVRT
19:9062148-9062148 C>T	0.0	3881	MELANOMA	-	-	ID=COSM715402,COSM715404,COSM715403;OCCURENCE=1(lung)	2	MUC16	uc002mkp.3,p.G8433E|ENST00000397910,p.G8433E|NM_024690,p.G8433E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G25298A	p.G8433E	TSSSERISSATEGSTVLSEVPSGAT	TSSSERISSATEESTVLSEVPSGAT	1.0	5.0	unscreened	-	3881_19:9062148-9062148 C>T_TSSSERISSATEESTVLSEVPSGAT
2:179549111-179549111 C>T	0.0	3881	MELANOMA	-	-	-	-	TTN	uc031rqd.1,p.E10573K|NM_001267550,p.E10890K|ENST00000342992,p.E9646K|uc021vsy.2,p.E9646K|uc031rqc.1,p.E10890K|ENST00000589042,p.E10890K|NM_133378,p.E9646K|NM_001256850,p.E10573K|ENST00000591111,p.E10573K|uc002umz.1,p.E6307K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon130	c.G31717A	p.E10573K	AKVTERHMQITQEEKVLVAVTKKEA	AKVTERHMQITQKEKVLVAVTKKEA	2.0	8.0	unscreened	-	3881_2:179549111-179549111 C>T_AKVTERHMQITQKEKVLVAVTKKEA
18:61627430-61627430 G>A	0.0	3881	MELANOMA	-	-	-	-	HMSD	ENST00000526932,p.R53Q	protein_coding, processed_transcript	ENST00000526932	nonsynonymous SNV	exon2	c.G158A	p.R53Q	VLQIPVANSTKQR	VLQIPVANSTKQQ	1.0	9.0	unscreened	-	3881_18:61627430-61627430 G>A_VLQIPVANSTKQQ
16:50346100-50346100 G>A	0.0	3881	MELANOMA	-	-	-	-	ADCY7	ENST00000254235,p.E868K|ENST00000394697,p.E868K|NM_001114,p.E868K|uc002egd.1,p.E868K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002egd.1	nonsynonymous SNV	exon20	c.G2602A	p.E868K	HVAAHFIGDKLNEDWYHQSYDCVCV	HVAAHFIGDKLNKDWYHQSYDCVCV	7.0	8.0	unscreened	-	3881_16:50346100-50346100 G>A_HVAAHFIGDKLNKDWYHQSYDCVCV
12:48723325-48723325 G>A	0.0	3881	MELANOMA	-	-	-	-	H1FNT	uc001rrm.3,p.R84Q|NM_181788,p.R84Q|ENST00000335017,p.R84Q	protein_coding	uc001rrm.3	nonsynonymous SNV	exon1	c.G251A	p.R84Q	KGLTLAALKKELRNAGYEVRRKSGR	KGLTLAALKKELQNAGYEVRRKSGR	1.0	8.0	unscreened	-	3881_12:48723325-48723325 G>A_KGLTLAALKKELQNAGYEVRRKSGR
16:19451766-19451766 G>A	0.0	3881	MELANOMA	-	-	-	-	TMC5	ENST00000396229,p.D136N|ENST00000542583,p.D136N|NM_001105248,p.D136N|NM_001105249,p.D136N|uc002dgc.4,p.D136N|ENST00000541464,p.D136N|uc010var.2,p.D136N|uc002dgb.4,p.D136N|NM_001261841,p.D136N|ENST00000381414,p.D136N|uc010vaq.2,p.D136N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010var.2	nonsynonymous SNV	exon3	c.G406A	p.D136N	RQPDYPGSQRNPDFAGSSSSGNYAG	RQPDYPGSQRNPNFAGSSSSGNYAG	1.0	6.0	unscreened	-	3881_16:19451766-19451766 G>A_RQPDYPGSQRNPNFAGSSSSGNYAG
3:130293006-130293006 G>A	0.0	3881	MELANOMA	-	-	-	-	COL6A6	uc010htl.3,p.E1062K|ENST00000453409,p.E1062K|NM_001102608,p.E1062K|ENST00000358511,p.E1062K	protein_coding, nonsense_mediated_decay	uc010htl.3	nonsynonymous SNV	exon7	c.G3184A	p.E1062K	PEFPLGTFIGEKEISFQIENIKQIF	PEFPLGTFIGEKKISFQIENIKQIF	3.0	4.0	unscreened	-	3881_3:130293006-130293006 G>A_PEFPLGTFIGEKKISFQIENIKQIF
1:152281685-152281685 C>T	0.0	3881	MELANOMA	-	-	ID=COSM3721822;OCCURENCE=1(upper_aerodigestive_tract)	-	FLG	ENST00000368799,p.D1893N|uc001ezu.1,p.D1893N|NM_002016,p.D1893N	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G5677A	p.D1893N	SGSRHHEASSRADSSRHSQVGQGQS	SGSRHHEASSRANSSRHSQVGQGQS	1.0	2.0	unscreened	-	3881_1:152281685-152281685 C>T_SGSRHHEASSRANSSRHSQVGQGQS
19:43414930-43414930 G>A	0.0	3881	MELANOMA	-	-	-	-	PSG6	ENST00000594375,p.P49S|ENST00000292125,p.P170S|uc002ovj.2,p.P170S|ENST00000187910,p.P170S|uc002ovg.2,p.P170S|NM_002782,p.P170S|ENST00000402603,p.P170S|NM_001031850,p.P170S	retained_intron, protein_coding, nonsense_mediated_decay	uc002ovj.2	nonsynonymous SNV	exon3	c.C508T	p.P170S	REVMEAVRLICDPETPDASYLWLLN	REVMEAVRLICDSETPDASYLWLLN	1.0	6.0	unscreened	-	3881_19:43414930-43414930 G>A_REVMEAVRLICDSETPDASYLWLLN
1:240371089-240371089 C>T	0.0	3881	MELANOMA	-	-	-	-	FMN2	uc010pye.2,p.P997S|ENST00000319653,p.P993S|NM_020066,p.P993S|uc010pyd.2,p.P993S	protein_coding, processed_transcript	uc010pye.2	nonsynonymous SNV	exon6	c.C2989T	p.P997S	LPGAGIPPPPPLPGAGIPPPPPLPG	LPGAGIPPPPPLSGAGIPPPPPLPG	1.0	2.0	unscreened	-	3881_1:240371089-240371089 C>T_LPGAGIPPPPPLSGAGIPPPPPLPG
19:49001517-49001517 G>A	0.0	3881	MELANOMA	-	-	-	-	LMTK3	ENST00000600059,p.P937S|uc002pjk.3,p.P966S|NM_001080434,p.P966S|ENST00000270238,p.P966S	protein_coding	uc002pjk.3	nonsynonymous SNV	exon12	c.C2896T	p.P966S	GVTVLENGDQRAPGIEEKAAENGAL	GVTVLENGDQRASGIEEKAAENGAL	2.0	7.0	unscreened	-	3881_19:49001517-49001517 G>A_GVTVLENGDQRASGIEEKAAENGAL
12:81851645-81851645 C>T	0.0	3881	MELANOMA	-	-	-	-	PPFIA2	uc010sue.2,p.E2K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sue.2	nonsynonymous SNV	exon3	c.G4A	p.E2K	MEFAALTKELNACR	MKFAALTKELNACR	3.0	7.0	unscreened	-	3881_12:81851645-81851645 C>T_MKFAALTKELNACR
11:35282494-35282494 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC1A2	uc001mwd.3,p.G558R|NM_001252652,p.G549R|ENST00000278379,p.G558R|uc001mwe.3,p.G549R|NM_004171,p.G558R|uc021qfx.1,p.G549R|ENST00000395753,p.G549R|NM_001195728,p.G549R|ENST00000395750,p.G549R	protein_coding, processed_transcript	uc021qfx.1	nonsynonymous SNV	exon12	c.G1645A	p.G549R	IVDECKVTLAANGKSADCSVEEEPW	IVDECKVTLAANRKSADCSVEEEPW	2.0	2.0	unscreened	-	3881_11:35282494-35282494 C>T_IVDECKVTLAANRKSADCSVEEEPW
12:102056136-102056136 G>A	0.0	3881	MELANOMA	-	-	-	-	MYBPC1	uc010svq.2,p.G640E|uc010svs.2,p.G653E|NM_001254719,p.G653E|ENST00000547509,p.G639E|NM_001254718,p.G653E|NM_206821,p.G653E|uc010svr.2,p.G653E|uc010svt.2,p.G641E|ENST00000361685,p.G678E|uc001tii.3,p.G653E|ENST00000550270,p.G653E|NM_001254721,p.G634E|NM_001254722,p.G627E|uc001tih.3,p.G678E|ENST00000441232,p.G653E|ENST00000541119,p.G641E|ENST00000551300,p.G554E|ENST00000392934,p.G640E|ENST00000360610,p.G653E|NM_206819,p.G678E|ENST00000553190,p.G653E|ENST00000545503,p.G653E|NM_001254723,p.G640E|ENST00000361466,p.G678E|uc001tik.3,p.G627E|uc010svu.2,p.G634E|uc001tig.3,p.G678E|NM_001254720,p.G641E|uc001tij.3,p.G653E|NM_002465,p.G678E|ENST00000452455,p.G653E|ENST00000547405,p.G627E|ENST00000536007,p.G634E|NM_206820,p.G653E|ENST00000549145,p.G666E	retained_intron, protein_coding, processed_transcript	uc010svu.2	nonsynonymous SNV	exon18	c.G1901A	p.G634E	EPPAYDGGSPILGYFIERKKKQSSR	EPPAYDGGSPILEYFIERKKKQSSR	2.0	8.0	unscreened	-	3881_12:102056136-102056136 G>A_EPPAYDGGSPILEYFIERKKKQSSR
8:139155261-139155261 C>T	0.0	3881	MELANOMA	-	-	ID=COSM320246,COSM320247;OCCURENCE=2(large_intestine),1(lung)	2	FAM135B	uc003yva.3,p.R773Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yva.3	nonsynonymous SNV	exon4	c.G2318A	p.R773Q	IQHIQLYNLSISRIR	IQHIQLYNLSISQIR	1.0	6.0	unscreened	-	3881_8:139155261-139155261 C>T_IQHIQLYNLSISQIR
2:141130679-141130679 C>T	0.0	3881	MELANOMA	-	-	-	1	LRP1B	ENST00000389484,p.D3556N|NM_018557,p.D3556N|uc002tvj.1,p.D3556N	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon69	c.G10666A	p.D3556N	SDERNCETSCSKDQFRCSNGQCIPA	SDERNCETSCSKNQFRCSNGQCIPA	4.0	7.0	unscreened	-	3881_2:141130679-141130679 C>T_SDERNCETSCSKNQFRCSNGQCIPA
16:31196466-31196466 C>T	1.0	3881	MELANOMA	-	-	-	1	FUS	NM_001170937,p.R240C|ENST00000254108,p.R244C|ENST00000380244,p.R243C|NM_004960,p.R244C|NM_001170634,p.R243C|uc002ebf.3,p.R244C|ENST00000568685,p.R244C|uc002ebh.3,p.R243C|uc002ebe.2,p.R240C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ebh.3	nonsynonymous SNV	exon6	c.C727T	p.R243C	YNRSSGGYEPRGRGGGRGGRGGMGG	YNRSSGGYEPRGCGGGRGGRGGMGG	10.0	3.0	unscreened	-	3881_16:31196466-31196466 C>T_YNRSSGGYEPRGCGGGRGGRGGMGG
11:1262281-1262281 G>A	0.0	3881	MELANOMA	-	-	-	-	MUC5B	uc001lta.3,p.E1391K|NM_002458,p.E1391K|ENST00000447027,p.E1394K|ENST00000529681,p.E1391K	retained_intron, protein_coding, processed_transcript	uc001lta.3	nonsynonymous SNV	exon31	c.G4171A	p.E1391K	ECRAAQLPDMPLEELGQQVDCDRMR	ECRAAQLPDMPLKELGQQVDCDRMR	1.0	7.0	unscreened	-	3881_11:1262281-1262281 G>A_ECRAAQLPDMPLKELGQQVDCDRMR
14:63174846-63174846 C>T	0.0	3881	MELANOMA	-	-	-	-	KCNH5	uc001xfx.3,p.E783K|ENST00000322893,p.E783K|NM_139318,p.E783K	protein_coding	uc001xfx.3	nonsynonymous SNV	exon11	c.G2347A	p.E783K	SESLKQNNRDAMELKPNGGADQKCL	SESLKQNNRDAMKLKPNGGADQKCL	1.0	2.0	unscreened	-	3881_14:63174846-63174846 C>T_SESLKQNNRDAMKLKPNGGADQKCL
11:20622867-20622867 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC6A5	NM_004211,p.D66N|uc001mqd.3,p.D66N|ENST00000525748,p.D66N|ENST00000298923,p.D66N	protein_coding, processed_transcript, nonsense_mediated_decay	uc001mqd.3	nonsynonymous SNV	exon2	c.G196A	p.D66N	SASTGAQTFQSADARACEAERPGVG	SASTGAQTFQSANARACEAERPGVG	1.0	2.0	unscreened	-	3881_11:20622867-20622867 G>A_SASTGAQTFQSANARACEAERPGVG
7:27147571-27147571 C>T	0.0	3881	MELANOMA	-	-	-	-	HOXA3	uc011jzl.2,p.G432E|ENST00000317201,p.G432E|NM_030661,p.G432E|ENST00000396352,p.G432E|NM_153631,p.G432E|uc003syk.3,p.G432E	protein_coding, processed_transcript	uc011jzl.2	nonsynonymous SNV	exon3	c.G1295A	p.G432E	TYTDLTGHHPSQGRIQEAPKLTHL	TYTDLTGHHPSQERIQEAPKLTHL	2.0	3.0	unscreened	-	3881_7:27147571-27147571 C>T_TYTDLTGHHPSQERIQEAPKLTHL
14:94708226-94708226 C>T	0.0	3881	MELANOMA	-	-	-	-	PPP4R4	uc001ycs.1,p.P360S|ENST00000304338,p.P360S|NM_058237,p.P360S	protein_coding, processed_transcript	uc001ycs.1	nonsynonymous SNV	exon10	c.C1078T	p.P360S	LQQENGHNENQIPPQILEQEKKYIS	LQQENGHNENQISPQILEQEKKYIS	1.0	8.0	unscreened	-	3881_14:94708226-94708226 C>T_LQQENGHNENQISPQILEQEKKYIS
18:7043261-7043261 C>T	0.0	3881	MELANOMA	-	-	ID=COSM564478;OCCURENCE=1(lung)	-	LAMA1	uc002knm.3,p.E374K|ENST00000389658,p.E374K|NM_005559,p.E374K	retained_intron, protein_coding	uc002knm.3	nonsynonymous SNV	exon8	c.G1120A	p.E374K	INCLQNTMGINCETCIDGYYRPHKV	INCLQNTMGINCKTCIDGYYRPHKV	2.0	8.0	unscreened	-	3881_18:7043261-7043261 C>T_INCLQNTMGINCKTCIDGYYRPHKV
7:71175845-71175845 C>T	0.0	3881	MELANOMA	-	-	-	-	WBSCR17	ENST00000333538,p.R534W|NM_022479,p.R534W|uc003tvz.4,p.R233W|uc003tvy.4,p.R534W	protein_coding, processed_transcript	uc003tvz.4	nonsynonymous SNV	exon10	c.C697T	p.R233W	PDTRCLVDNSKSRLPQLLDCDKVKS	PDTRCLVDNSKSWLPQLLDCDKVKS	1.0	8.0	unscreened	-	3881_7:71175845-71175845 C>T_PDTRCLVDNSKSWLPQLLDCDKVKS
X:123554186-123554186 C>T	0.0	3881	MELANOMA	-	-	-	-	TENM1	uc011muj.2,p.E1652K|NM_014253,p.E1646K|uc010nqy.3,p.E1653K|ENST00000422452,p.E1653K|uc004euj.3,p.E1646K|NM_001163278,p.E1653K|ENST00000371130,p.E1646K|NM_001163279,p.E1652K	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon25	c.G4954A	p.E1652K	PGNTGLLATKSNENGWTTVYEYDPE	PGNTGLLATKSNKNGWTTVYEYDPE	2.0	7.0	unscreened	-	3881_X:123554186-123554186 C>T_PGNTGLLATKSNKNGWTTVYEYDPE
11:6292648-6292648 C>T	0.0	3881	MELANOMA	-	-	-	-	CCKBR	uc001mcs.3,p.R476C|ENST00000532715,p.R323C|uc001mcq.3,p.R335C|ENST00000334619,p.R407C|uc001mcp.3,p.R407C|ENST00000525462,p.R476C|NM_176875,p.R407C	protein_coding, processed_transcript	uc001mcs.3	nonsynonymous SNV	exon4	c.C1426T	p.R476C	RRFRQACLETCARCCPRPPRARPRA	RRFRQACLETCACCCPRPPRARPRA	1.0	4.0	unscreened	-	3881_11:6292648-6292648 C>T_RRFRQACLETCACCCPRPPRARPRA
3:50332562-50332562 G>A	0.0	3881	MELANOMA	-	-	-	-	HYAL3	ENST00000359051,p.P158S|ENST00000336307,p.P158S|NM_003549,p.P158S|uc003czg.2,p.P158S|NM_001200029,p.P158S|uc003czd.2,p.P158S|NM_001200030,p.P158S|ENST00000450982,p.P158S|uc021wyn.1,p.P158S	protein_coding	uc021wyn.1	nonsynonymous SNV	exon2	c.C472T	p.P158S	QAASWAWAQQVFPDLDPQEQLYKAY	QAASWAWAQQVFSDLDPQEQLYKAY	4.0	8.0	unscreened	-	3881_3:50332562-50332562 G>A_QAASWAWAQQVFSDLDPQEQLYKAY
16:2903258-2903258 C>T	0.0	3881	MELANOMA	-	-	-	-	PRSS22	ENST00000161006,p.E264K|uc002cry.1,p.E264K|NM_022119,p.E264K|ENST00000571228,p.E154K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cry.1	nonsynonymous SNV	exon6	c.G790A	p.E264K	GAWLLAGIISWGEGCAERNRPGVYI	GAWLLAGIISWGKGCAERNRPGVYI	1.0	6.0	unscreened	-	3881_16:2903258-2903258 C>T_GAWLLAGIISWGKGCAERNRPGVYI
2:219000594-219000594 C>T	0.0	3881	MELANOMA	-	-	-	-	CXCR2	ENST00000318507,p.S357F|NM_001168298,p.S357F|NM_001557,p.S357F|uc002vhb.2,p.S357F|uc002vha.2,p.S357F|uc002vgz.2,p.S357F|uc021vwp.1,p.S357F	protein_coding	uc021vwp.1	nonsynonymous SNV	exon1	c.C1070T	p.S357F	RPSFVGSSSGHTSTTL	RPSFVGSSSGHTFTTL	1.0	7.0	unscreened	-	3881_2:219000594-219000594 C>T_RPSFVGSSSGHTFTTL
11:20699494-20699494 G>A	0.0	3881	MELANOMA	-	-	-	-	NELL1	NM_001288713,p.M52I|ENST00000298925,p.M52I|uc009yid.3,p.M52I	retained_intron, protein_coding, processed_transcript	uc009yid.3	nonsynonymous SNV	exon3	c.G156A	p.M52I	LQQSLQGVVGFGMDPDLQMDIVTEL	LQQSLQGVVGFGIDPDLQMDIVTEL	1.0	4.0	unscreened	-	3881_11:20699494-20699494 G>A_LQQSLQGVVGFGIDPDLQMDIVTEL
3:51284215-51284215 G>A	0.0	3881	MELANOMA	-	-	-	-	DOCK3	ENST00000266037,p.D721N|NM_004947,p.D721N|uc011bds.2,p.D721N	protein_coding	uc011bds.2	nonsynonymous SNV	exon22	c.G2161A	p.D721N	WYMDCSAELIRQDHIQEAMRALEYL	WYMDCSAELIRQNHIQEAMRALEYL	1.0	5.0	unscreened	-	3881_3:51284215-51284215 G>A_WYMDCSAELIRQNHIQEAMRALEYL
2:64322102-64322102 G>A	1.0	3881	MELANOMA	-	-	ID=COSM722077;OCCURENCE=1(lung)	-	PELI1	uc002sct.4,p.R331C|NM_020651,p.R331C|uc002scr.4,p.R152C|uc002scs.4,p.R331C|ENST00000358912,p.R331C	protein_coding, processed_transcript	uc002sct.4	nonsynonymous SNV	exon7	c.C991T	p.R331C	NWGNKEERDGKDRECPMCRSVGPYV	NWGNKEERDGKDCECPMCRSVGPYV	8.0	6.0	unscreened	-	3881_2:64322102-64322102 G>A_NWGNKEERDGKDCECPMCRSVGPYV
5:32087893-32087893 G>A	0.0	3881	MELANOMA	-	-	-	-	PDZD2	uc003jhl.3,p.G1447R|uc003jhm.3,p.G1447R|ENST00000282493,p.G1447R|ENST00000438447,p.G1447R|NM_178140,p.G1447R	retained_intron, protein_coding, processed_transcript	uc003jhm.3	nonsynonymous SNV	exon19	c.G4339A	p.G1447R	DASAARSPSSQTGDSGSQEGSAQGH	DASAARSPSSQTRDSGSQEGSAQGH	3.0	3.0	unscreened	-	3881_5:32087893-32087893 G>A_DASAARSPSSQTRDSGSQEGSAQGH
11:4945293-4945293 C>T	0.0	3881	MELANOMA	-	-	-	-	OR51G1	ENST00000321961,p.E93K|NM_001005237,p.E93K|uc010qyr.2,p.E93K	protein_coding	uc010qyr.2	nonsynonymous SNV	exon1	c.G277A	p.E93K	PTVLGIFWFDTREIGIPACFTQLFF	PTVLGIFWFDTRKIGIPACFTQLFF	1.0	6.0	unscreened	-	3881_11:4945293-4945293 C>T_PTVLGIFWFDTRKIGIPACFTQLFF
3:57232980-57232980 C>T	0.0	3881	MELANOMA	-	-	-	-	HESX1	NM_003865,p.G53E|ENST00000295934,p.G53E|ENST00000495160,p.G53E|uc003din.4,p.G53E|ENST00000473921,p.G53E	protein_coding	uc003din.4	nonsynonymous SNV	exon2	c.G158A	p.G53E	PHRPWADTCSSSGKDGNLCLHVPNP	PHRPWADTCSSSEKDGNLCLHVPNP	4.0	2.0	unscreened	-	3881_3:57232980-57232980 C>T_PHRPWADTCSSSEKDGNLCLHVPNP
8:73480225-73480225 G>C	0.0	3881	MELANOMA	-	-	-	-	KCNB2	NM_004770,p.E86Q|uc003xzb.3,p.E86Q|ENST00000523207,p.E86Q	protein_coding	uc003xzb.3	nonsynonymous SNV	exon2	c.G256C	p.E86Q	LEVCDDYNLNENEYFFDRHPGAFTS	LEVCDDYNLNENQYFFDRHPGAFTS	1.0	4.0	unscreened	-	3881_8:73480225-73480225 G>C_LEVCDDYNLNENQYFFDRHPGAFTS
2:162661001-162661001 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC4A10	ENST00000421911,p.G58E|uc010zcs.2,p.G69E|uc010fpa.1,p.G70E|ENST00000415876,p.G58E|uc002uby.4,p.G58E|uc002ubx.4,p.G58E|NM_001178015,p.G58E|ENST00000446997,p.G58E|ENST00000446228,p.G58E|ENST00000272716,p.G58E|ENST00000375514,p.G69E|NM_022058,p.G58E|NM_001178016,p.G69E|ENST00000535165,p.G58E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zcs.2	nonsynonymous SNV	exon4	c.G206A	p.G69E	RTLFIGVHVPLGGRKSHRRHRHRGH	RTLFIGVHVPLGERKSHRRHRHRGH	1.0	8.0	unscreened	-	3881_2:162661001-162661001 G>A_RTLFIGVHVPLGERKSHRRHRHRGH
16:20576154-20576154 C>T	0.0	3881	MELANOMA	-	-	ID=COSM702459;OCCURENCE=1(lung),1(endometrium)	-	ACSM2B	uc002dhk.4,p.R5Q|NM_182617,p.R5Q|ENST00000567001,p.R5Q|ENST00000414188,p.R5Q|ENST00000566384,p.R5Q|ENST00000565232,p.R5Q|ENST00000569344,p.R5Q|ENST00000329697,p.R5Q|ENST00000569327,p.R5Q|NM_001105069,p.R5Q|uc002dhj.4,p.R5Q|uc010bwf.1,p.R5Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bwf.1	nonsynonymous SNV	exon2	c.G14A	p.R5Q	MHWLRKVQGLCTLWGTQ	MHWLQKVQGLCTLWGTQ	1.0	3.0	unscreened	-	3881_16:20576154-20576154 C>T_MHWLQKVQGLCTLWGTQ
7:26225390-26225390 G>A	1.0	3881	MELANOMA	-	-	-	-	NFE2L3	ENST00000056233,p.G691E|uc003sxq.3,p.G691E|NM_004289,p.G691E	protein_coding	uc003sxq.3	nonsynonymous SNV	exon4	c.G2072A	p.G691E	LVASGHKKETQKGKRK	LVASGHKKETQKEKRK	5.0	9.0	unscreened	-	3881_7:26225390-26225390 G>A_LVASGHKKETQKEKRK
6:46847705-46847705 C>T	0.0	3881	MELANOMA	-	-	-	-	GPR116	uc003oyr.2,p.E296K|ENST00000265417,p.E296K|ENST00000283296,p.E296K|NM_001098518,p.E296K|uc003oyo.3,p.E296K|ENST00000362015,p.E296K|NM_015234,p.E296K|uc003oyq.3,p.E296K	protein_coding, processed_transcript	uc003oyr.2	nonsynonymous SNV	exon9	c.G886A	p.E296K	FEGDTVSLVCEKEVLSSNVSWRYEE	FEGDTVSLVCEKKVLSSNVSWRYEE	5.0	3.0	unscreened	-	3881_6:46847705-46847705 C>T_FEGDTVSLVCEKKVLSSNVSWRYEE
X:129318631-129318631 C>T	0.0	3881	MELANOMA	-	-	-	-	RAB33A	uc004evl.3,p.R211C|NM_004794,p.R211C|ENST00000257017,p.R211C	protein_coding	uc004evl.3	nonsynonymous SNV	exon2	c.C631T	p.R211C	ACRLKAQKSLLYRDAERQQGKVQKL	ACRLKAQKSLLYCDAERQQGKVQKL	7.0	5.0	unscreened	-	3881_X:129318631-129318631 C>T_ACRLKAQKSLLYCDAERQQGKVQKL
7:96637127-96637127 G>A	0.0	3881	MELANOMA	-	-	-	-	DLX6	ENST00000555308,p.G77E|NM_005222,p.G205E|uc022ahu.1,p.G205E|ENST00000518156,p.G205E|ENST00000007660,p.G177E	protein_coding, processed_transcript	uc022ahu.1	nonsynonymous SNV	exon2	c.G614A	p.G205E	ALPERAELAASLGLTQTQVKIWFQN	ALPERAELAASLELTQTQVKIWFQN	1.0	7.0	unscreened	-	3881_7:96637127-96637127 G>A_ALPERAELAASLELTQTQVKIWFQN
11:63059048-63059048 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC22A10	ENST00000532724,p.V95M|ENST00000526800,p.V95M|ENST00000332793,p.V147M|NM_001039752,p.V147M|ENST00000533483,p.V95M|uc009yor.3,p.V147M|uc010rmp.1,p.V95M	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rmp.1	nonsynonymous SNV	exon2	c.G283A	p.V95M	WDLVCDYQSLKSVVQFLLLTGMLVG	WDLVCDYQSLKSMVQFLLLTGMLVG	1.0	5.0	unscreened	-	3881_11:63059048-63059048 G>A_WDLVCDYQSLKSMVQFLLLTGMLVG
21:45994081-45994081 C>T	0.0	3881	MELANOMA	-	-	-	-	KRTAP10-4	NM_198687,p.S149F|uc002zfk.1,p.S149F|ENST00000400374,p.S149F	protein_coding	uc002zfk.1	nonsynonymous SNV	exon1	c.C446T	p.S149F	QQSSCQSACCTSSPCQQACCVPICC	QQSSCQSACCTSFPCQQACCVPICC	1.0	6.0	unscreened	-	3881_21:45994081-45994081 C>T_QQSSCQSACCTSFPCQQACCVPICC
21:41719777-41719777 C>T	0.0	3881	MELANOMA	-	-	-	-	DSCAM	NM_001271534,p.E344K|uc002yyq.1,p.E344K|NM_001389,p.E344K|ENST00000404019,p.E96K|ENST00000400454,p.E344K|uc031rvr.1,p.E344K	protein_coding	uc031rvr.1	nonsynonymous SNV	exon6	c.G1030A	p.E344K	SLSCSVTGTEDQELSWYRNGEILNP	SLSCSVTGTEDQKLSWYRNGEILNP	1.0	7.0	unscreened	-	3881_21:41719777-41719777 C>T_SLSCSVTGTEDQKLSWYRNGEILNP
X:152821681-152821681 G>A	0.0	3881	MELANOMA	-	-	-	1	ATP2B3	ENST00000349466,p.G745S|NM_001001344,p.G745S|ENST00000370181,p.G731S|uc004fhs.1,p.G745S|ENST00000263519,p.G745S|ENST00000393842,p.G731S|ENST00000359149,p.G745S|NM_021949,p.G745S|uc004fht.1,p.G745S|ENST00000370186,p.G731S	protein_coding, processed_transcript	uc004fht.1	nonsynonymous SNV	exon12	c.G2233A	p.G745S	GKEFNRRIRNEKGEIEQERLDKVWP	GKEFNRRIRNEKSEIEQERLDKVWP	1.0	3.0	unscreened	-	3881_X:152821681-152821681 G>A_GKEFNRRIRNEKSEIEQERLDKVWP
18:71740770-71740770 C>T	0.0	3881	MELANOMA	-	-	-	-	FBXO15	NM_001142958,p.E487K|NM_152676,p.E411K|uc002lle.2,p.E411K|ENST00000269500,p.E411K|ENST00000419743,p.E487K|uc002llf.2,p.E487K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002llf.2	nonsynonymous SNV	exon10	c.G1459A	p.E487K	VHVELVWIRETEEYLIVNLVLYLSI	VHVELVWIRETEKYLIVNLVLYLSI	2.0	4.0	unscreened	-	3881_18:71740770-71740770 C>T_VHVELVWIRETEKYLIVNLVLYLSI
11:93837734-93837734 G>A	0.0	3881	MELANOMA	-	-	ID=COSM933459;OCCURENCE=2(endometrium)	-	HEPHL1	NM_001098672,p.R908Q|uc001pep.2,p.R908Q|ENST00000315765,p.R908Q	protein_coding	uc001pep.2	nonsynonymous SNV	exon16	c.G2723A	p.R908Q	TYSGLMGPLITCRKGVLNEKGRRSD	TYSGLMGPLITCQKGVLNEKGRRSD	1.0	6.0	unscreened	-	3881_11:93837734-93837734 G>A_TYSGLMGPLITCQKGVLNEKGRRSD
11:64502594-64502594 C>T	0.0	3881	MELANOMA	-	-	-	-	RASGRP2	uc009ypu.3,p.D468N|ENST00000354024,p.D468N|NM_153819,p.D468N|NM_001098671,p.D468N|ENST00000394432,p.D468N|ENST00000377497,p.D468N|ENST00000377494,p.D468N|uc009ypw.3,p.D468N|uc001oat.3,p.D370N|uc001oau.3,p.D323N|uc009ypv.3,p.D468N|NM_001098670,p.D468N	retained_intron, protein_coding, nonsense_mediated_decay	uc009ypw.3	nonsynonymous SNV	exon12	c.G1402A	p.D468N	GNFPYLSAFGDLDQNQDGCISREEM	GNFPYLSAFGDLNQNQDGCISREEM	5.0	2.0	unscreened	-	3881_11:64502594-64502594 C>T_GNFPYLSAFGDLNQNQDGCISREEM
7:86394553-86394553 G>A	0.0	3881	MELANOMA	-	-	-	2	GRM3	ENST00000421579,p.R31K|ENST00000361669,p.R31K|uc010lef.3,p.R29K|ENST00000441140,p.R31K|NM_000840,p.R31K|uc003uid.3,p.R31K|ENST00000439827,p.R31K|ENST00000394720,p.R29K	protein_coding	uc010lef.3	nonsynonymous SNV	exon2	c.G86A	p.R29K	FLLSLGDHNFLRREIKIEGDLVLGG	FLLSLGDHNFLRKEIKIEGDLVLGG	1.0	3.0	unscreened	-	3881_7:86394553-86394553 G>A_FLLSLGDHNFLRKEIKIEGDLVLGG
1:200880772-200880772 C>T	0.0	3881	MELANOMA	-	-	-	-	C1orf106	NM_001142569,p.S384L|uc010ppm.2,p.S384L|uc001gvo.4,p.S483L|ENST00000367342,p.S469L|ENST00000413687,p.S384L|NM_018265,p.S483L	protein_coding, processed_transcript	uc010ppm.2	nonsynonymous SNV	exon9	c.C1151T	p.S384L	SGSDVSSISHPTSPGSSSPDISFLQ	SGSDVSSISHPTLPGSSSPDISFLQ	4.0	3.0	unscreened	-	3881_1:200880772-200880772 C>T_SGSDVSSISHPTLPGSSSPDISFLQ
15:90171808-90171808 C>T	0.0	3881	MELANOMA	-	-	-	-	KIF7	uc010upw.1,p.E778K|NM_198525,p.E1292K|uc002bof.2,p.E1292K|ENST00000394412,p.E1292K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010upw.1	nonsynonymous SNV	exon14	c.G2332A	p.E778K	SSLCGEEQGSPEELRQREAAEPLVG	SSLCGEEQGSPEKLRQREAAEPLVG	2.0	2.0	unscreened	-	3881_15:90171808-90171808 C>T_SSLCGEEQGSPEKLRQREAAEPLVG
5:180432442-180432442 G>A	0.0	3881	MELANOMA	-	-	-	-	BTNL3	NM_197975,p.R324K|ENST00000342868,p.R324K|uc003mmr.3,p.R324K|uc010jlp.3,p.R109K	protein_coding	uc010jlp.3	nonsynonymous SNV	exon5	c.G326A	p.R109K	RKAPQEVPHSEKRFTRKSVVASQGF	RKAPQEVPHSEKKFTRKSVVASQGF	1.0	8.0	unscreened	-	3881_5:180432442-180432442 G>A_RKAPQEVPHSEKKFTRKSVVASQGF
19:56422035-56422035 C>T	0.0	3881	MELANOMA	-	-	ID=COSM26275;OCCURENCE=1(lung)	-	NLRP13	ENST00000588751,p.E726K|uc010ygg.2,p.E726K|NM_176810,p.E726K|ENST00000342929,p.E726K	protein_coding	uc010ygg.2	nonsynonymous SNV	exon6	c.G2176A	p.E726K	AWNSICSTLVTNENLHELDLSNSKL	AWNSICSTLVTNKNLHELDLSNSKL	1.0	3.0	unscreened	-	3881_19:56422035-56422035 C>T_AWNSICSTLVTNKNLHELDLSNSKL
19:22585617-22585617 C>T	0.0	3881	MELANOMA	-	-	-	-	ZNF98	uc002nqt.2,p.R76K|ENST00000357774,p.R76K|ENST00000593657,p.R35K|NM_001098626,p.R76K	protein_coding, processed_transcript	uc002nqt.2	nonsynonymous SNV	exon3	c.G227A	p.R76K	CLEQGKEPWNVKRHEMVTEPPVVYS	CLEQGKEPWNVKKHEMVTEPPVVYS	2.0	7.0	unscreened	-	3881_19:22585617-22585617 C>T_CLEQGKEPWNVKKHEMVTEPPVVYS
1:115600168-115600168 A>T	0.0	3881	MELANOMA	-	-	-	-	TSPAN2	ENST00000369515,p.L144Q|ENST00000369516,p.L169Q|NM_005725,p.L169Q|uc001eft.3,p.L169Q	protein_coding, processed_transcript	uc001eft.3	nonsynonymous SNV	exon6	c.T506A	p.L169Q	SEQVQPTCPKELLGHKNCIDEIETI	SEQVQPTCPKELQGHKNCIDEIETI	5.0	6.0	unscreened	-	3881_1:115600168-115600168 A>T_SEQVQPTCPKELQGHKNCIDEIETI
7:92765047-92765047 G>A	1.0	3881	MELANOMA	-	-	-	-	SAMD9L	ENST00000437805,p.P80S|NM_152703,p.P80S|uc010lfc.1,p.P80S|uc003umk.1,p.P80S|ENST00000318238,p.P80S|uc010lfb.1,p.P80S|ENST00000411955,p.P80S|uc003umh.1,p.P80S|uc022ahh.1,p.P80S|uc003umj.1,p.P80S|uc010lfd.1,p.P80S|uc003umi.1,p.P80S	protein_coding, processed_transcript	uc022ahh.1	nonsynonymous SNV	exon1	c.C238T	p.P80S	IKRSYNKLNSKSPESDNHDPGQLDN	IKRSYNKLNSKSSESDNHDPGQLDN	9.0	2.0	unscreened	-	3881_7:92765047-92765047 G>A_IKRSYNKLNSKSSESDNHDPGQLDN
1:197298073-197298073 G>A	0.0	3881	MELANOMA	-	-	ID=COSM140396;OCCURENCE=1(skin)	-	CRB1	ENST00000367399,p.E198K|ENST00000484075,p.E198K|uc010poz.2,p.E129K|NM_001193640,p.E198K|ENST00000367400,p.E198K|NM_201253,p.E198K|NM_001257965,p.E129K|ENST00000535699,p.E129K|uc001gty.2,p.E198K|ENST00000538660,p.E198K|NM_001257966,p.E198K|uc010ppb.2,p.E198K|uc009wza.3,p.E198K|uc001gtz.3,p.E198K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ppb.2	nonsynonymous SNV	exon2	c.G592A	p.E198K	EVDECASDPCKNEATCLNEIGRYTC	EVDECASDPCKNKATCLNEIGRYTC	2.0	8.0	unscreened	-	3881_1:197298073-197298073 G>A_EVDECASDPCKNKATCLNEIGRYTC
4:1801488-1801488 G>A	0.0	3881	MELANOMA	-	-	-	1	FGFR3	uc003gdu.2,p.G132R|NM_000142,p.G132R|uc003gds.3,p.G132R|ENST00000440486,p.G132R|ENST00000260795,p.G132R|ENST00000352904,p.G132R|ENST00000481110,p.G132R|ENST00000340107,p.G132R|NM_001163213,p.G132R|uc003gdr.3,p.G132R|uc003gdq.3,p.G132R|NM_022965,p.G132R|ENST00000412135,p.G132R	retained_intron, protein_coding, processed_transcript	uc003gdu.2	nonsynonymous SNV	exon4	c.G394A	p.G132R	HFSVRVTDAPSSGDDEDGEDEAEDT	HFSVRVTDAPSSRDDEDGEDEAEDT	1.0	8.0	unscreened	-	3881_4:1801488-1801488 G>A_HFSVRVTDAPSSRDDEDGEDEAEDT
5:156482224-156482224 C>T	0.0	3881	MELANOMA	-	-	-	-	HAVCR1	ENST00000522693,p.E123K|NM_012206,p.E123K|ENST00000544197,p.E123K|NM_001173393,p.E123K|uc010jij.1,p.E123K|uc011ddm.2,p.E123K|ENST00000339252,p.E123K|NM_001099414,p.E123K|uc003lwi.2,p.E123K|ENST00000425854,p.E123K|uc021ygj.1,p.E123K|ENST00000523175,p.E123K|ENST00000518745,p.E123K	protein_coding, processed_transcript	uc021ygj.1	nonsynonymous SNV	exon3	c.G367A	p.E123K	GWFNDMKITVSLEIVPPKVTTTPIV	GWFNDMKITVSLKIVPPKVTTTPIV	2.0	7.0	unscreened	-	3881_5:156482224-156482224 C>T_GWFNDMKITVSLKIVPPKVTTTPIV
14:70633673-70633673 T>C	0.0	3881	MELANOMA	0.0018	-	-	-	SLC8A3	ENST00000528359,p.I489M|NM_183002,p.I489M|uc001xlx.3,p.I489M|ENST00000494208,p.I489M|uc001xlz.3,p.I489M|uc001xly.3,p.I489M|NM_182932,p.I489M|uc001xlw.3,p.I489M|NM_033262,p.I489M|ENST00000381269,p.I489M|ENST00000356921,p.I489M|NM_058240,p.I489M|ENST00000357887,p.I489M|ENST00000534137,p.I489M	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xlz.3	nonsynonymous SNV	exon2	c.A1467G	p.I489M	DEHFFVRLSNVRIEEEQPEEGMPPA	DEHFFVRLSNVRMEEEQPEEGMPPA	1.0	6.0	unscreened	-	3881_14:70633673-70633673 T>C_DEHFFVRLSNVRMEEEQPEEGMPPA
12:53421577-53421577 C>T	1.0	3881	MELANOMA	-	-	ID=COSM274949;OCCURENCE=1(large_intestine)	-	EIF4B	ENST00000549481,p.R182C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000549481	nonsynonymous SNV	exon6	c.C544T	p.R182C	VADQAQDKEYRDRYDSDRYRDGYRD	VADQAQDKEYRDCYDSDRYRDGYRD	10.0	5.0	unscreened	-	3881_12:53421577-53421577 C>T_VADQAQDKEYRDCYDSDRYRDGYRD
X:133700106-133700106 G>A	0.0	3881	MELANOMA	-	-	-	-	PLAC1	uc004exo.1,p.L203F|ENST00000359237,p.L203F|NM_021796,p.L203F|uc022cei.1,p.L203F|uc004exp.1,p.L203F	protein_coding, processed_transcript	uc022cei.1	nonsynonymous SNV	exon1	c.C607T	p.L203F	PSHFLDISEDWSLHTDDMIGSM	PSHFLDISEDWSFHTDDMIGSM	1.0	6.0	unscreened	-	3881_X:133700106-133700106 G>A_PSHFLDISEDWSFHTDDMIGSM
7:81355325-81355325 C>T	0.0	3881	MELANOMA	-	-	-	-	HGF	ENST00000222390,p.R350Q|NM_001010932,p.R345Q|NM_000601,p.R350Q|ENST00000457544,p.R345Q|uc003uhm.3,p.R345Q|uc003uhl.3,p.R350Q	retained_intron, protein_coding	uc003uhm.3	nonsynonymous SNV	exon9	c.G1034A	p.R345Q	DMTPENFKCKDLRENYCRNPDGSES	DMTPENFKCKDLQENYCRNPDGSES	5.0	7.0	unscreened	-	3881_7:81355325-81355325 C>T_DMTPENFKCKDLQENYCRNPDGSES
12:55420794-55420794 C>T	0.0	3881	MELANOMA	-	-	-	-	NEUROD4	uc021qyr.1,p.P191S|uc001sgp.4,p.P191S|NM_021191,p.P191S|ENST00000242994,p.P191S	protein_coding	uc021qyr.1	nonsynonymous SNV	exon1	c.C571T	p.P191S	QSVLLEKHEDKSPICDSAISVHNFN	QSVLLEKHEDKSSICDSAISVHNFN	1.0	4.0	unscreened	-	3881_12:55420794-55420794 C>T_QSVLLEKHEDKSSICDSAISVHNFN
12:11461328-11461328 G>A	0.0	3881	MELANOMA	-	-	-	-	PRB4	uc031qgh.1,p.P128S|NM_002723,p.P197S|ENST00000279575,p.P197S|ENST00000535904,p.P197S|NM_001261399,p.P128S|uc001qzt.4,p.P197S|uc001qzf.2,p.P197S|ENST00000445719,p.P128S	protein_coding	uc031qgh.1	nonsynonymous SNV	exon4	c.C382T	p.P128S	GPPQQEGNKPQGPPPPGKPQGPPPA	GPPQQEGNKPQGSPPPGKPQGPPPA	1.0	8.0	unscreened	-	3881_12:11461328-11461328 G>A_GPPQQEGNKPQGSPPPGKPQGPPPA
19:3728434-3728434 G>A	0.0	3881	MELANOMA	-	-	-	-	TJP3	ENST00000262968,p.E21K|ENST00000587686,p.E21K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000587686	nonsynonymous SNV	exon1	c.G61A	p.E21K	IFPAPLDQVADMEELTIWEQHTATL	IFPAPLDQVADMKELTIWEQHTATL	1.0	8.0	unscreened	-	3881_19:3728434-3728434 G>A_IFPAPLDQVADMKELTIWEQHTATL
16:57984319-57984319 C>T	0.0	3881	MELANOMA	-	-	-	-	CNGB1	uc010cdh.2,p.E328K|NM_001297,p.E334K|NM_001286130,p.E328K|ENST00000564448,p.E328K|uc002emt.2,p.E334K|ENST00000251102,p.E334K	retained_intron, protein_coding, processed_transcript	uc010cdh.2	nonsynonymous SNV	exon13	c.G982A	p.E328K	TSPQGTEVVPAYEEENKAVEKMPRE	TSPQGTEVVPAYKEENKAVEKMPRE	1.0	5.0	unscreened	-	3881_16:57984319-57984319 C>T_TSPQGTEVVPAYKEENKAVEKMPRE
16:20996653-20996653 C>T	0.0	3881	MELANOMA	-	-	-	-	DNAH3	ENST00000261383,p.E2471K|NM_017539,p.E2471K|uc010vbe.2,p.E2471K	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon48	c.G7411A	p.E2471K	EITKNYAGNDWREDLKKIILQVGVA	EITKNYAGNDWRKDLKKIILQVGVA	1.0	8.0	unscreened	-	3881_16:20996653-20996653 C>T_EITKNYAGNDWRKDLKKIILQVGVA
2:152496505-152496505 C>T	0.0	3881	MELANOMA	-	-	-	-	NEB	ENST00000397345,p.E2919K|uc002txu.3,p.E2919K|ENST00000409198,p.E2919K|uc021vrc.1,p.E2919K|NM_001271208,p.E2919K|ENST00000603639,p.E2919K|ENST00000427231,p.E2919K|NM_001164507,p.E2919K|ENST00000604864,p.E2919K|NM_001164508,p.E2919K|uc021vrb.1,p.E2919K|uc010fnx.3,p.E2919K|uc031rpp.1,p.E2919K|uc021vrd.1,p.E2919K|NM_004543,p.E2919K|ENST00000172853,p.E2919K	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon62	c.G8755A	p.E2919K	GIGWVSIGSLDVEKCKRATEILSDK	GIGWVSIGSLDVKKCKRATEILSDK	3.0	2.0	unscreened	-	3881_2:152496505-152496505 C>T_GIGWVSIGSLDVKKCKRATEILSDK
12:11421584-11421584 G>A	0.0	3881	MELANOMA	-	-	-	-	PRB3	NM_006249,p.S28F|ENST00000381842,p.S28F|uc001qzs.3,p.S28F|ENST00000538488,p.S28F	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	uc001qzs.3	nonsynonymous SNV	exon2	c.C83T	p.S28F	AQSLNEDVSQEESPSVISGKPEGRR	AQSLNEDVSQEEFPSVISGKPEGRR	1.0	8.0	unscreened	-	3881_12:11421584-11421584 G>A_AQSLNEDVSQEEFPSVISGKPEGRR
19:9065287-9065287 C>G	0.0	3881	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.E7387Q|NM_024690,p.E7387Q|uc002mkp.3,p.E7387Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G22159C	p.E7387Q	AGDVPRPSSLPVEETSPPSSQLSLS	AGDVPRPSSLPVQETSPPSSQLSLS	1.0	7.0	unscreened	-	3881_19:9065287-9065287 C>G_AGDVPRPSSLPVQETSPPSSQLSLS
3:38753759-38753759 T>C	0.0	3881	MELANOMA	-	-	-	-	SCN10A	uc003ciq.3,p.N1328D|ENST00000449082,p.N1328D|NM_001293307,p.N1230D|NM_001293306,p.N1327D|NM_006514,p.N1328D	protein_coding	uc003ciq.3	nonsynonymous SNV	exon22	c.A3982G	p.N1328D	GEFSLVPLSIVNNKSDCKIQNSTGS	GEFSLVPLSIVNDKSDCKIQNSTGS	1.0	8.0	unscreened	-	3881_3:38753759-38753759 T>C_GEFSLVPLSIVNDKSDCKIQNSTGS
11:66193446-66193446 G>A	0.0	3881	MELANOMA	-	-	-	-	NPAS4	uc010rpc.1,p.E589K|uc001ohx.1,p.E799K|NM_178864,p.E799K|ENST00000311034,p.E799K	retained_intron, protein_coding, nonsense_mediated_decay	uc010rpc.1	nonsynonymous SNV	exon7	c.G1765A	p.E589K	VQDSFHEDGSGGEPTF	VQDSFHEDGSGGKPTF	1.0	2.0	unscreened	-	3881_11:66193446-66193446 G>A_VQDSFHEDGSGGKPTF
11:100221439-100221439 T>A	0.0	3881	MELANOMA	-	-	-	-	CNTN5	NM_175566,p.Y939N|uc001pga.3,p.Y1013N|NM_001243270,p.Y1013N|ENST00000528682,p.Y1013N|NM_014361,p.Y1013N|uc021qpb.1,p.Y1013N|ENST00000418526,p.Y939N|uc021qpc.1,p.Y939N|ENST00000524871,p.Y1013N|ENST00000279463,p.Y1013N|uc010ruk.2,p.Y284N	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon21	c.T2815A	p.Y939N	ANESEVVGYKVFYRQEGHSNSQVIE	ANESEVVGYKVFNRQEGHSNSQVIE	1.0	3.0	unscreened	-	3881_11:100221439-100221439 T>A_ANESEVVGYKVFNRQEGHSNSQVIE
18:348086-348086 C>T	0.0	3881	MELANOMA	-	-	-	-	COLEC12	ENST00000400256,p.E87K|NM_130386,p.E87K|uc002kkm.3,p.E87K	retained_intron, protein_coding	uc002kkm.3	nonsynonymous SNV	exon4	c.G259A	p.E87K	SRQTYDDKLTAVESDLKKLGDQTGK	SRQTYDDKLTAVKSDLKKLGDQTGK	5.0	3.0	unscreened	-	3881_18:348086-348086 C>T_SRQTYDDKLTAVKSDLKKLGDQTGK
1:55158182-55158182 G>A	0.0	3881	MELANOMA	-	-	-	-	MROH7	uc009vzr.1,p.E135K|ENST00000339553,p.E933K|uc010ooc.1,p.E501K|NM_001291332,p.E451K|NM_001039464,p.E933K|uc001cxu.3,p.E79K|ENST00000421030,p.E933K|ENST00000414150,p.E933K|ENST00000409996,p.E501K|uc010oog.1,p.E933K|uc010ooe.1,p.E933K|ENST00000454855,p.E451K|ENST00000545244,p.E501K|ENST00000395690,p.E933K|uc010ood.1,p.E451K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010oog.1	nonsynonymous SNV	exon14	c.G2797A	p.E933K	YETTFLEDQGGWELMEQVESHHRGV	YETTFLEDQGGWKLMEQVESHHRGV	2.0	6.0	unscreened	-	3881_1:55158182-55158182 G>A_YETTFLEDQGGWKLMEQVESHHRGV
7:55238094-55238094 G>A	0.0	3881	MELANOMA	-	-	-	1	EGFR	NM_201284,p.G659R|ENST00000344576,p.G659R|uc003tqj.3,p.G659R	retained_intron, protein_coding, processed_transcript	uc003tqj.3	nonsynonymous SNV	exon16	c.G1975A	p.G659R	NQSNDGSVSHQSGSPAAQESCLGWI	NQSNDGSVSHQSRSPAAQESCLGWI	3.0	7.0	unscreened	-	3881_7:55238094-55238094 G>A_NQSNDGSVSHQSRSPAAQESCLGWI
19:56485065-56485065 C>T	0.0	3881	MELANOMA	-	-	-	-	NLRP8	uc002qmh.3,p.S861F|ENST00000291971,p.S861F|NM_176811,p.S861F	protein_coding	uc002qmh.3	nonsynonymous SNV	exon7	c.C2582T	p.S861F	CNLTQLTCESLASCLRQSKMLTHLS	CNLTQLTCESLAFCLRQSKMLTHLS	1.0	6.0	unscreened	-	3881_19:56485065-56485065 C>T_CNLTQLTCESLAFCLRQSKMLTHLS
1:57399055-57399055 G>A	0.0	3881	MELANOMA	-	-	ID=COSM175116;OCCURENCE=2(NS),1(large_intestine)	-	C8B	ENST00000371237,p.S502F|uc010ooo.2,p.S450F|ENST00000535057,p.S440F|uc001cyp.3,p.S502F|NM_001278543,p.S450F|ENST00000543257,p.S450F|uc010oon.2,p.S440F|NM_000066,p.S502F|NM_001278544,p.S440F	retained_intron, protein_coding, processed_transcript	uc010ooo.2	nonsynonymous SNV	exon11	c.C1349T	p.S450F	KQALEEFQKEVSSCHCAPCQGNGVP	KQALEEFQKEVSFCHCAPCQGNGVP	1.0	7.0	unscreened	-	3881_1:57399055-57399055 G>A_KQALEEFQKEVSFCHCAPCQGNGVP
13:67477653-67477653 C>T	0.0	3881	MELANOMA	-	-	-	-	PCDH9	uc001vik.3,p.E1041K|NM_203487,p.E1041K|ENST00000377865,p.E1041K|ENST00000544246,p.E1041K	protein_coding	uc001vik.3	nonsynonymous SNV	exon3	c.G3121A	p.E1041K	CPSSTGFHIQENEESHYESQRRVTF	CPSSTGFHIQENKESHYESQRRVTF	5.0	8.0	unscreened	-	3881_13:67477653-67477653 C>T_CPSSTGFHIQENKESHYESQRRVTF
6:7585303-7585303 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1696908;OCCURENCE=1(skin)	-	DSP	ENST00000379802,p.T2603I|uc021yle.1,p.T2160I|uc003mxp.1,p.T2603I|uc003mxq.1,p.T2004I|NM_004415,p.T2603I|NM_001008844,p.T2004I|ENST00000418664,p.T2004I	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon24	c.C6479T	p.T2160I	SKISTISSVRNLTIRSSSFSDTLEE	SKISTISSVRNLIIRSSSFSDTLEE	3.0	5.0	unscreened	-	3881_6:7585303-7585303 C>T_SKISTISSVRNLIIRSSSFSDTLEE
2:168107179-168107179 C>T	0.0	3881	MELANOMA	-	-	-	-	XIRP2	NM_152381,p.R3093C|ENST00000409273,p.R2871C|uc010fpq.3,p.R2871C|NM_001199144,p.R2871C|uc002udx.3,p.R3093C|uc002udy.3,p.R2918C|ENST00000409195,p.R3093C|ENST00000295237,p.R3093C	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C8611T	p.R2871C	QHQVAAHHEATVRSHVKTHQEIKLD	QHQVAAHHEATVCSHVKTHQEIKLD	1.0	4.0	unscreened	-	3881_2:168107179-168107179 C>T_QHQVAAHHEATVCSHVKTHQEIKLD
2:138376063-138376063 G>A	0.0	3881	MELANOMA	-	-	-	-	THSD7B	ENST00000413152,p.D1195N|ENST00000409968,p.D1223N|ENST00000272643,p.D1226N	retained_intron, protein_coding, processed_transcript	ENST00000413152	nonsynonymous SNV	exon19	c.G3583A	p.D1195N	SCVCSDGKPVSMDQCEQHNLEKPQR	SCVCSDGKPVSMNQCEQHNLEKPQR	1.0	3.0	unscreened	-	3881_2:138376063-138376063 G>A_SCVCSDGKPVSMNQCEQHNLEKPQR
2:234357794-234357794 G>A	1.0	3881	MELANOMA	-	-	-	-	DGKD	NM_152879,p.D554N|uc002vui.1,p.D554N|uc010fyh.1,p.D421N|NM_003648,p.D510N|ENST00000264057,p.D554N|ENST00000409813,p.D510N|uc002vuj.1,p.D510N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fyh.1	nonsynonymous SNV	exon13	c.G1261A	p.D421N	LKEKLDSLLKTLDDESQASSSLPNP	LKEKLDSLLKTLNDESQASSSLPNP	9.0	7.0	unscreened	-	3881_2:234357794-234357794 G>A_LKEKLDSLLKTLNDESQASSSLPNP
17:28890309-28890309 C>T	0.0	3881	MELANOMA	-	-	-	-	TBC1D29	ENST00000580161,p.P107S|ENST00000579181,p.P107S|NM_015594,p.P107S|uc002hfh.3,p.P107S	retained_intron, protein_coding	uc002hfh.3	nonsynonymous SNV	exon5	c.C319T	p.P107S	LQALTASESSRGPSLLQTPPRVPGQ	LQALTASESSRGSSLLQTPPRVPGQ	2.0	3.0	unscreened	-	3881_17:28890309-28890309 C>T_LQALTASESSRGSSLLQTPPRVPGQ
13:67477653-67477653 C>T	0.0	3881	MELANOMA	-	-	-	-	PCDH9	uc010thl.2,p.E1041K	protein_coding	uc010thl.2	nonsynonymous SNV	exon3	c.G3121A	p.E1041K	CPSSTGFHIQENEESHYEPQDEFYD	CPSSTGFHIQENKESHYEPQDEFYD	5.0	8.0	unscreened	-	3881_13:67477653-67477653 C>T_CPSSTGFHIQENKESHYEPQDEFYD
7:4213866-4213866 G>A	0.0	3881	MELANOMA	0.0005	-	-	-	SDK1	NM_001079653,p.E92K|uc003smy.3,p.E92K|uc010kso.3,p.E881K|NM_152744,p.E1605K|uc003smx.3,p.E1605K|ENST00000404826,p.E1605K|ENST00000389531,p.E1605K	retained_intron, protein_coding, processed_transcript	uc010kso.3	nonsynonymous SNV	exon19	c.G2641A	p.E881K	SSVLIQWQPPRDESLNGLLQGYRIY	SSVLIQWQPPRDKSLNGLLQGYRIY	2.0	7.0	unscreened	-	3881_7:4213866-4213866 G>A_SSVLIQWQPPRDKSLNGLLQGYRIY
X:142596711-142596711 C>T	0.0	3881	MELANOMA	-	-	-	-	SPANXN3	uc004fbw.3,p.G120E|NM_001009609,p.G120E|ENST00000370503,p.G120E	protein_coding	uc004fbw.3	nonsynonymous SNV	exon2	c.G359A	p.G120E	PSKEDKDLDSSEGSSQEDEDLGLSE	PSKEDKDLDSSEESSQEDEDLGLSE	1.0	2.0	unscreened	-	3881_X:142596711-142596711 C>T_PSKEDKDLDSSEESSQEDEDLGLSE
X:118223585-118223585 T>A	0.0	3881	MELANOMA	-	-	-	-	KIAA1210	uc004era.4,p.R536S|NM_020721,p.R536S|ENST00000402510,p.R536S	protein_coding	uc004era.4	nonsynonymous SNV	exon11	c.A1608T	p.R536S	SQGYPMSAAYGRRWRRKGASVSGLS	SQGYPMSAAYGRSWRRKGASVSGLS	1.0	7.0	unscreened	-	3881_X:118223585-118223585 T>A_SQGYPMSAAYGRSWRRKGASVSGLS
1:160654854-160654854 C>T	0.0	3881	MELANOMA	-	-	-	-	CD48	NM_001778,p.D70N|ENST00000368045,p.D70N|NM_001256030,p.D70N|uc001fwn.4,p.D70N|uc001fwp.4,p.D70N|uc001fwo.2,p.D70N|ENST00000368046,p.D70N	protein_coding	uc001fwp.4	nonsynonymous SNV	exon2	c.G208A	p.D70N	WFYTFDQKIVEWDSRKSKYFESKFK	WFYTFDQKIVEWNSRKSKYFESKFK	7.0	4.0	unscreened	-	3881_1:160654854-160654854 C>T_WFYTFDQKIVEWNSRKSKYFESKFK
19:10104436-10104436 C>T	0.0	3881	MELANOMA	-	-	-	-	COL5A3	uc002mmq.1,p.G545E|NM_015719,p.G545E|ENST00000264828,p.G545E	retained_intron, protein_coding	uc002mmq.1	nonsynonymous SNV	exon17	c.G1634A	p.G545E	GADGARGLPGDTGPKGDRGFDGLPG	GADGARGLPGDTEPKGDRGFDGLPG	5.0	7.0	unscreened	-	3881_19:10104436-10104436 C>T_GADGARGLPGDTEPKGDRGFDGLPG
19:45997810-45997810 C>T	1.0	3881	MELANOMA	-	-	-	-	RTN2	ENST00000344680,p.R178K|ENST00000591286,p.R178K|NM_206900,p.R178K|NM_005619,p.R178K|uc002pcb.4,p.R178K|ENST00000245923,p.R178K|uc002pcc.4,p.R178K|ENST00000587597,p.R178K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002pcc.4	nonsynonymous SNV	exon3	c.G533A	p.R178K	TPLEDEEPQEPNRLETGEAGEELDL	TPLEDEEPQEPNKLETGEAGEELDL	10.0	5.0	unscreened	-	3881_19:45997810-45997810 C>T_TPLEDEEPQEPNKLETGEAGEELDL
10:1779344-1779344 T>A	0.0	3881	MELANOMA	-	-	-	-	ADARB2	NM_018702,p.M1L|uc009xhq.3,p.M1L|ENST00000381312,p.M1L	protein_coding, processed_transcript	uc009xhq.3	nonsynonymous SNV	exon1	c.A1T	p.M1L	MASVLGSGRGSGG	LASVLGSGRGSGG	2.0	1.0	unscreened	-	3881_10:1779344-1779344 T>A_LASVLGSGRGSGG
19:9045872-9045872 G>C	0.0	3881	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.T11920R|ENST00000397910,p.T11920R|NM_024690,p.T11920R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon5	c.C35759G	p.T11920R	TTDKPQTVTSWNTETSPSVTSVGPP	TTDKPQTVTSWNRETSPSVTSVGPP	1.0	3.0	unscreened	-	3881_19:9045872-9045872 G>C_TTDKPQTVTSWNRETSPSVTSVGPP
11:11988557-11988557 G>A	0.0	3881	MELANOMA	-	-	-	-	DKK3	uc001mjv.3,p.T206I|ENST00000533813,p.T206I|ENST00000450094,p.T178I|uc010rcg.1,p.T206I|uc001mjw.3,p.T206I|NM_001018057,p.T206I|ENST00000525493,p.T206I|uc001mju.3,p.T206I|ENST00000396505,p.T206I|uc010rcf.2,p.T178I|NM_013253,p.T206I|NM_015881,p.T206I|ENST00000326932,p.T206I	retained_intron, protein_coding, processed_transcript	uc010rcg.1	nonsynonymous SNV	exon6	c.C617T	p.T206I	HCTKMATRGSNGTICDNQRDCQPGL	HCTKMATRGSNGIICDNQRDCQPGL	5.0	5.0	unscreened	-	3881_11:11988557-11988557 G>A_HCTKMATRGSNGIICDNQRDCQPGL
11:117785119-117785119 C>T	1.0	3881	MELANOMA	-	-	-	-	TMPRSS13	uc009yzr.2,p.E188K|NM_001077263,p.E223K|ENST00000526090,p.E223K|uc001pru.2,p.E223K|uc001prs.2,p.E223K|ENST00000528626,p.E188K|NM_001206790,p.E223K|ENST00000445164,p.E223K|uc021qrc.1,p.E223K|NM_001206789,p.E188K|NM_001244995,p.E223K|ENST00000430170,p.E223K|ENST00000524993,p.E223K	retained_intron, protein_coding, nonsense_mediated_decay	uc021qrc.1	nonsynonymous SNV	exon4	c.G667A	p.E223K	CDGVVDCKLKSDELGCVRFDWDKSL	CDGVVDCKLKSDKLGCVRFDWDKSL	6.0	7.0	unscreened	-	3881_11:117785119-117785119 C>T_CDGVVDCKLKSDKLGCVRFDWDKSL
2:166892960-166892960 C>T	0.0	3881	MELANOMA	-	-	-	-	SCN1A	NM_001165963,p.M1009I|ENST00000375405,p.M998I|ENST00000303395,p.M1009I|NM_001165964,p.M981I|uc021vsb.1,p.M998I|uc010fpk.3,p.M981I|uc002udo.4,p.M1009I|ENST00000423058,p.M1009I|NM_006920,p.M998I|ENST00000409050,p.M981I|NM_001202435,p.M1009I	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon16	c.G2994A	p.M998I	ADNLAATDDDNEMNNLQIAVDRMHK	ADNLAATDDDNEINNLQIAVDRMHK	1.0	3.0	unscreened	-	3881_2:166892960-166892960 C>T_ADNLAATDDDNEINNLQIAVDRMHK
X:57474995-57474995 G>A	0.0	3881	MELANOMA	-	-	-	-	FAAH2	ENST00000374900,p.E423K|uc004dvc.3,p.E423K|NM_174912,p.E423K	protein_coding, processed_transcript	uc004dvc.3	nonsynonymous SNV	exon10	c.G1267A	p.E423K	LALLEEKLRYSNEKYQKFKAVEESL	LALLEEKLRYSNKKYQKFKAVEESL	1.0	3.0	unscreened	-	3881_X:57474995-57474995 G>A_LALLEEKLRYSNKKYQKFKAVEESL
12:101505472-101505472 G>A	0.0	3881	MELANOMA	-	-	-	-	ANO4	uc001thw.2,p.G777R|NM_178826,p.G777R|NM_001286616,p.G812R|ENST00000392977,p.G812R|ENST00000392979,p.G777R|ENST00000550015,p.G332R|ENST00000299222,p.G332R|uc001thy.2,p.G332R|uc001thx.2,p.G812R|uc010svm.1,p.G812R|NM_001286615,p.G812R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010svm.1	nonsynonymous SNV	exon24	c.G2434A	p.G812R	VYAYKYGPCAGQGEAGQKCMVGYVN	VYAYKYGPCAGQREAGQKCMVGYVN	1.0	7.0	unscreened	-	3881_12:101505472-101505472 G>A_VYAYKYGPCAGQREAGQKCMVGYVN
2:228881438-228881438 C>T	0.0	3881	MELANOMA	-	-	-	-	SPHKAP	NM_030623,p.E1378K|uc002vpp.2,p.E1378K|uc010zlx.1,p.E1378K|uc002vpq.2,p.E1378K|ENST00000392056,p.E1378K|ENST00000344657,p.E1378K|NM_001142644,p.E1378K	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.G4132A	p.E1378K	ESLDCPRKDSVTECKQPPVSSLSKT	ESLDCPRKDSVTKCKQPPVSSLSKT	1.0	4.0	unscreened	-	3881_2:228881438-228881438 C>T_ESLDCPRKDSVTKCKQPPVSSLSKT
8:10469317-10469317 C>T	0.0	3881	MELANOMA	-	-	-	-	RP1L1	NM_178857,p.G764E|ENST00000382483,p.G764E|uc003wtc.3,p.G764E	protein_coding, processed_transcript	uc003wtc.3	nonsynonymous SNV	exon4	c.G2291A	p.G764E	VSPHNAPSAGWAGDAGSRTCSPAPI	VSPHNAPSAGWAEDAGSRTCSPAPI	1.0	8.0	unscreened	-	3881_8:10469317-10469317 C>T_VSPHNAPSAGWAEDAGSRTCSPAPI
19:18170730-18170730 C>T	0.0	3881	MELANOMA	-	-	-	-	IL12RB1	NM_001290023,p.E653K|ENST00000593993,p.E653K|uc010xqb.1,p.E653K	retained_intron, protein_coding	uc010xqb.1	nonsynonymous SNV	exon16	c.G1957A	p.E653K	APELALDTELSLEDGDRCDR	APELALDTELSLKDGDRCDR	6.0	8.0	unscreened	-	3881_19:18170730-18170730 C>T_APELALDTELSLKDGDRCDR
18:40854030-40854030 T>C	0.0	3881	MELANOMA	-	-	-	-	SYT4	uc010xcm.2,p.T104A|ENST00000590752,p.T104A|ENST00000255224,p.T122A|uc002law.3,p.T122A|NM_020783,p.T122A	protein_coding, processed_transcript	uc010xcm.2	nonsynonymous SNV	exon2	c.A310G	p.T104A	LKPGSPSDLENATPKLFLEGEKESV	LKPGSPSDLENAAPKLFLEGEKESV	1.0	7.0	unscreened	-	3881_18:40854030-40854030 T>C_LKPGSPSDLENAAPKLFLEGEKESV
19:56329485-56329485 C>T	0.0	3881	MELANOMA	-	-	-	-	NLRP11	ENST00000360133,p.S19N|ENST00000589824,p.S19N|ENST00000443188,p.S19N|ENST00000593244,p.S19N|NM_145007,p.S19N|uc010ygf.2,p.S19N|ENST00000589093,p.S19N	protein_coding, nonsense_mediated_decay	uc010ygf.2	nonsynonymous SNV	exon4	c.G56A	p.S19N	TDFDLLWYLENLSDKEFQSFKKYLA	TDFDLLWYLENLNDKEFQSFKKYLA	1.0	8.0	unscreened	-	3881_19:56329485-56329485 C>T_TDFDLLWYLENLNDKEFQSFKKYLA
X:142596730-142596730 C>T	0.0	3881	MELANOMA	-	-	-	-	SPANXN3	NM_001009609,p.D114N|uc004fbw.3,p.D114N|ENST00000370503,p.D114N	protein_coding	uc004fbw.3	nonsynonymous SNV	exon2	c.G340A	p.D114N	LGPCEGPSKEDKDLDSSEGSSQEDE	LGPCEGPSKEDKNLDSSEGSSQEDE	1.0	2.0	unscreened	-	3881_X:142596730-142596730 C>T_LGPCEGPSKEDKNLDSSEGSSQEDE
21:45709584-45709584 C>T	0.0	3881	MELANOMA	-	-	-	-	AIRE	NM_000383,p.P233S|uc002zei.3,p.P233S|ENST00000291582,p.P233S	retained_intron, protein_coding, nonsense_mediated_decay	uc002zei.3	nonsynonymous SNV	exon6	c.C697T	p.P233S	KKCIQVGGEFYTPSKFEDSGSGKNK	KKCIQVGGEFYTSSKFEDSGSGKNK	1.0	8.0	unscreened	-	3881_21:45709584-45709584 C>T_KKCIQVGGEFYTSSKFEDSGSGKNK
5:140256186-140256186 C>T	0.0	3881	MELANOMA	-	-	ID=COSM3827027;OCCURENCE=1(breast)	-	PCDHA12	uc011daf.2,p.R377C|NM_031864,p.R377C|ENST00000398631,p.R377C|NM_018903,p.R377C|uc003lic.2,p.R377C	protein_coding	uc011daf.2	nonsynonymous SNV	exon1	c.C1129T	p.R377C	VGTVIALISVSDRDSGANGQVICSL	VGTVIALISVSDCDSGANGQVICSL	4.0	8.0	unscreened	-	3881_5:140256186-140256186 C>T_VGTVIALISVSDCDSGANGQVICSL
3:64641303-64641303 G>A	0.0	3881	MELANOMA	-	-	-	-	ADAMTS9	ENST00000498707,p.S373L|uc003dmk.1,p.S373L|ENST00000295903,p.S345L|uc011bfo.2,p.S345L|ENST00000459780,p.S373L|uc003dmh.1,p.S202L|uc003dmg.3,p.S373L|NM_182920,p.S373L	retained_intron, protein_coding, processed_transcript	uc011bfo.2	nonsynonymous SNV	exon5	c.C1034T	p.S345L	QTTLKNFCQWQHSKNSPGGIHHDTA	QTTLKNFCQWQHLKNSPGGIHHDTA	5.0	5.0	unscreened	-	3881_3:64641303-64641303 G>A_QTTLKNFCQWQHLKNSPGGIHHDTA
2:163361135-163361135 C>T	0.0	3881	MELANOMA	-	-	-	-	KCNH7	NM_033272,p.G316R|uc002uch.2,p.G316R|ENST00000332142,p.G316R	protein_coding, processed_transcript	uc002uch.2	nonsynonymous SNV	exon6	c.G946A	p.G316R	KGPFNHIKSSLLGSTSDSNLNKYST	KGPFNHIKSSLLRSTSDSNLNKYST	1.0	7.0	unscreened	-	3881_2:163361135-163361135 C>T_KGPFNHIKSSLLRSTSDSNLNKYST
2:163361135-163361135 C>T	0.0	3881	MELANOMA	-	-	-	-	KCNH7	ENST00000328032,p.G309R|NM_173162,p.G309R|uc002uci.3,p.G309R	protein_coding, processed_transcript	uc002uci.3	nonsynonymous SNV	exon5	c.G925A	p.G309R	EGPFNHIKSSLLGSTSDSNLNKYST	EGPFNHIKSSLLRSTSDSNLNKYST	1.0	7.0	unscreened	-	3881_2:163361135-163361135 C>T_EGPFNHIKSSLLRSTSDSNLNKYST
14:24545469-24545469 G>A	0.0	3881	MELANOMA	-	-	-	-	CPNE6	NM_001280558,p.G401S|uc001wlm.3,p.G171S|uc010tnv.2,p.G401S|ENST00000397016,p.G346S|ENST00000216775,p.G346S|uc001wll.3,p.G346S|ENST00000537691,p.G401S|NM_006032,p.G346S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tnv.2	nonsynonymous SNV	exon12	c.G1201A	p.G401S	PNHYLQALRAVGGICQDYDSDKRFP	PNHYLQALRAVGSICQDYDSDKRFP	1.0	4.0	unscreened	-	3881_14:24545469-24545469 G>A_PNHYLQALRAVGSICQDYDSDKRFP
2:26703109-26703109 C>T	0.0	3881	MELANOMA	-	-	-	-	OTOF	NM_001287489,p.R625K|NM_194248,p.R625K|ENST00000403946,p.R625K|ENST00000272371,p.R625K|uc002rhk.3,p.R625K	retained_intron, protein_coding	uc002rhk.3	nonsynonymous SNV	exon16	c.G1874A	p.R625K	FGAFLEASMIDRRNGDKPITFEVTI	FGAFLEASMIDRKNGDKPITFEVTI	1.0	3.0	unscreened	-	3881_2:26703109-26703109 C>T_FGAFLEASMIDRKNGDKPITFEVTI
14:20586535-20586535 G>A	0.0	3881	MELANOMA	-	-	-	-	OR4K17	uc001vwo.1,p.E324K|ENST00000315543,p.E324K|NM_001004715,p.E324K	protein_coding	uc001vwo.1	nonsynonymous SNV	exon1	c.G970A	p.E324K	ILNPIIYTLRNKEMKISMKKLWRAF	ILNPIIYTLRNKKMKISMKKLWRAF	1.0	3.0	unscreened	-	3881_14:20586535-20586535 G>A_ILNPIIYTLRNKKMKISMKKLWRAF
11:6292648-6292648 C>T	0.0	3881	MELANOMA	-	-	-	-	CCKBR	uc001mcr.3,p.R390C	protein_coding, processed_transcript	uc001mcr.3	nonsynonymous SNV	exon6	c.C1168T	p.R390C	LSYASACLETCARCCPRPPRARPRA	LSYASACLETCACCCPRPPRARPRA	1.0	4.0	unscreened	-	3881_11:6292648-6292648 C>T_LSYASACLETCACCCPRPPRARPRA
2:179702107-179702107 C>T	0.0	3881	MELANOMA	-	-	-	-	CCDC141	uc002unf.1,p.R759K|ENST00000420890,p.R1280K|ENST00000343876,p.R724K|NM_173648,p.R1280K|ENST00000295723,p.R705K|uc002une.2,p.R1280K	protein_coding, processed_transcript	uc002unf.1	nonsynonymous SNV	exon13	c.G2276A	p.R759K	PPVAFADACNDKRETFSSHFERPYL	PPVAFADACNDKKETFSSHFERPYL	3.0	8.0	unscreened	-	3881_2:179702107-179702107 C>T_PPVAFADACNDKKETFSSHFERPYL
12:21350096-21350096 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1705290;OCCURENCE=2(skin)	-	SLCO1B1	ENST00000256958,p.G315E|uc001req.4,p.G315E|NM_006446,p.G315E	protein_coding	uc001req.4	nonsynonymous SNV	exon8	c.G944A	p.G315E	DEKDQTANLTNQGKNITKNVTGFFQ	DEKDQTANLTNQEKNITKNVTGFFQ	1.0	4.0	unscreened	-	3881_12:21350096-21350096 G>A_DEKDQTANLTNQEKNITKNVTGFFQ
6:32021263-32021263 G>A	0.0	3881	MELANOMA	-	-	-	-	TNXB	NM_019105,p.T2896I|ENST00000375244,p.T2898I|ENST00000375247,p.T2896I|uc003nzl.2,p.T2896I	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon25	c.C8687T	p.T2896I	KVVRVPGHEDGVTISGLEPDHKYKM	KVVRVPGHEDGVIISGLEPDHKYKM	5.0	5.0	unscreened	-	3881_6:32021263-32021263 G>A_KVVRVPGHEDGVIISGLEPDHKYKM
1:112525141-112525141 C>T	0.0	3881	MELANOMA	-	-	-	-	KCND3	ENST00000369697,p.E70K|NM_172198,p.E70K|NM_004980,p.E70K|uc001ebv.1,p.E70K|ENST00000315987,p.E70K|uc001ebu.1,p.E70K|ENST00000302127,p.E70K	protein_coding	uc001ebv.1	nonsynonymous SNV	exon2	c.G208A	p.E70K	LERYPDTLLGSTEKEFFFNEDTKEY	LERYPDTLLGSTKKEFFFNEDTKEY	1.0	8.0	unscreened	-	3881_1:112525141-112525141 C>T_LERYPDTLLGSTKKEFFFNEDTKEY
16:4242171-4242171 G>A	0.0	3881	MELANOMA	-	-	-	-	SRL	uc002cvz.4,p.R469C|ENST00000537996,p.R427C|NM_001098814,p.R469C|ENST00000399609,p.R469C	protein_coding, nonsense_mediated_decay	uc002cvz.4	nonsynonymous SNV	exon6	c.C1405T	p.R469C	CDKTGCSETPKNRYRKH	CDKTGCSETPKNCYRKH	1.0	8.0	unscreened	-	3881_16:4242171-4242171 G>A_CDKTGCSETPKNCYRKH
2:128388870-128388870 G>A	0.0	3881	MELANOMA	-	-	-	-	MYO7B	ENST00000428314,p.R1650Q|NM_001080527,p.R1650Q|ENST00000409816,p.R1650Q|uc002tor.1,p.R503Q|ENST00000389524,p.R1650Q|ENST00000409090,p.R503Q|uc002top.3,p.R1650Q	retained_intron, protein_coding	uc002tor.1	nonsynonymous SNV	exon11	c.G1508A	p.R503Q	RGHLWAYSCEPLRQPLLKRVHANVD	RGHLWAYSCEPLQQPLLKRVHANVD	2.0	7.0	unscreened	-	3881_2:128388870-128388870 G>A_RGHLWAYSCEPLQQPLLKRVHANVD
13:25266627-25266627 G>A	0.0	3881	MELANOMA	-	-	-	-	ATP12A	uc001upp.3,p.E377K|ENST00000381946,p.E377K|NM_001676,p.E377K|uc010aaa.3,p.E383K|NM_001185085,p.E383K|ENST00000218548,p.E383K	protein_coding	uc010aaa.3	nonsynonymous SNV	exon9	c.G1147A	p.E383K	RMAKKNCLVKNLEAVETLGSTSIIC	RMAKKNCLVKNLKAVETLGSTSIIC	1.0	4.0	unscreened	-	3881_13:25266627-25266627 G>A_RMAKKNCLVKNLKAVETLGSTSIIC
18:76754532-76754532 G>A	0.0	3881	MELANOMA	-	-	-	-	SALL3	ENST00000536229,p.M714I|ENST00000537592,p.M847I|uc002lmt.3,p.M847I|uc010dra.3,p.M454I|NM_171999,p.M847I|ENST00000575389,p.M847I	protein_coding, processed_transcript	uc010dra.3	nonsynonymous SNV	exon1	c.G1362A	p.M454I	SVISSIAALENQMKMIDSVMSCQQL	SVISSIAALENQIKMIDSVMSCQQL	1.0	7.0	unscreened	-	3881_18:76754532-76754532 G>A_SVISSIAALENQIKMIDSVMSCQQL
10:54053613-54053613 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1702400,COSM1702399;OCCURENCE=1(skin)	-	PRKG1	ENST00000373985,p.D645N|ENST00000373980,p.D672N|ENST00000373975,p.D375N|uc001jjm.3,p.D657N|NM_001098512,p.D657N|ENST00000401604,p.D657N|uc001jjo.3,p.D672N|NM_006258,p.D672N|uc009xow.2,p.D375N	protein_coding	uc009xow.2	nonsynonymous SNV	exon15	c.G1123A	p.D375N	DTSNFDSFPEDNDEPPPDDNSGWDI	DTSNFDSFPEDNNEPPPDDNSGWDI	4.0	2.0	unscreened	-	3881_10:54053613-54053613 G>A_DTSNFDSFPEDNNEPPPDDNSGWDI
2:70900130-70900130 C>T	0.0	3881	MELANOMA	-	-	-	-	ADD2	uc021vjc.1,p.E584K|uc002sgz.3,p.E584K|ENST00000264436,p.E584K|NM_001185054,p.E584K|ENST00000403045,p.E584K|NM_001617,p.E584K|ENST00000407644,p.E584K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vjc.1	nonsynonymous SNV	exon15	c.G1750A	p.E584K	VERKKLELDGEKETAPEEPGSPAKS	VERKKLELDGEKKTAPEEPGSPAKS	3.0	8.0	unscreened	-	3881_2:70900130-70900130 C>T_VERKKLELDGEKKTAPEEPGSPAKS
18:31324302-31324302 G>A	0.0	3881	MELANOMA	-	-	-	-	ASXL3	ENST00000269197,p.S1497N|NM_030632,p.S1497N|uc002kxq.2,p.S1204N|uc010dmg.1,p.S1497N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon12	c.G4490A	p.S1497N	LSLTVSVESSEASLDLQGRPVRTEA	LSLTVSVESSEANLDLQGRPVRTEA	1.0	3.0	unscreened	-	3881_18:31324302-31324302 G>A_LSLTVSVESSEANLDLQGRPVRTEA
19:22585617-22585617 C>T	0.0	3881	MELANOMA	-	-	-	-	ZNF98	ENST00000601553,p.R76K	protein_coding, processed_transcript	ENST00000601553	nonsynonymous SNV	exon3	c.G227A	p.R76K	CLEQGKEPWNVKRHEMVTEPPGLQ	CLEQGKEPWNVKKHEMVTEPPGLQ	2.0	7.0	unscreened	-	3881_19:22585617-22585617 C>T_CLEQGKEPWNVKKHEMVTEPPGLQ
2:125284988-125284988 G>A	0.0	3881	MELANOMA	-	-	-	-	CNTNAP5	uc002tno.3,p.G534E|NM_130773,p.G534E|ENST00000431078,p.G534E|uc010flu.3,p.G535E	retained_intron, protein_coding, processed_transcript	uc010flu.3	nonsynonymous SNV	exon10	c.G1604A	p.G535E	PKDLISVQQGSLGNFSDLHIDLCSI	PKDLISVQQGSLENFSDLHIDLCSI	1.0	5.0	unscreened	-	3881_2:125284988-125284988 G>A_PKDLISVQQGSLENFSDLHIDLCSI
17:48271401-48271401 C>T	0.0	3881	MELANOMA	-	-	-	1	COL1A1	NM_000088,p.G557D|ENST00000225964,p.G557D|uc002iqm.3,p.G557D	retained_intron, protein_coding	uc002iqm.3	nonsynonymous SNV	exon25	c.G1670A	p.G557D	GSPGPDGKTGPPGPAGQDGRPGPPG	GSPGPDGKTGPPDPAGQDGRPGPPG	10.0	7.0	unscreened	-	3881_17:48271401-48271401 C>T_GSPGPDGKTGPPDPAGQDGRPGPPG
6:56031762-56031762 C>T	0.0	3881	MELANOMA	-	-	-	-	COL21A1	uc003pcu.1,p.R407Q|uc003pcs.3,p.R407Q|ENST00000370819,p.R407Q|ENST00000244728,p.R407Q|NM_030820,p.R407Q|ENST00000535941,p.R407Q|uc011dxi.1,p.R407Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxi.1	nonsynonymous SNV	exon8	c.G1220A	p.R407Q	KEETVQFDVQKLRIYCDPEQNNRET	KEETVQFDVQKLQIYCDPEQNNRET	3.0	6.0	unscreened	-	3881_6:56031762-56031762 C>T_KEETVQFDVQKLQIYCDPEQNNRET
2:179590257-179590257 C>T	0.0	3881	MELANOMA	0.0005	-	-	-	TTN	ENST00000342992,p.E5648K|NM_001267550,p.E6892K|NM_133378,p.E5648K|NM_001256850,p.E6575K|uc021vsy.2,p.E5648K|ENST00000589042,p.E6892K|uc031rqd.1,p.E6575K|uc031rqc.1,p.E6892K|ENST00000591111,p.E6575K|uc002umz.1,p.E2309K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon69	c.G19723A	p.E6575K	AQPIFVQWLKEKEEVIRESENIRIT	AQPIFVQWLKEKKEVIRESENIRIT	2.0	8.0	unscreened	-	3881_2:179590257-179590257 C>T_AQPIFVQWLKEKKEVIRESENIRIT
8:104898050-104898050 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1094542,COSM1094541,COSM1597310,COSM1597311,COSM1094543;OCCURENCE=1(endometrium)	-	RIMS2	uc003ylp.3,p.R408Q|uc003ylq.3,p.R216Q|uc003yls.3,p.R186Q|NM_001100117,p.R408Q|uc003ylr.3,p.R216Q|ENST00000507740,p.R216Q|ENST00000504942,p.R408Q|uc003ylw.2,p.R216Q|ENST00000406091,p.R408Q|ENST00000515551,p.R216Q|NM_014677,p.R216Q|NM_001282881,p.R216Q|ENST00000408894,p.R216Q|ENST00000262231,p.R216Q|ENST00000436393,p.R186Q	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon2	c.G647A	p.R216Q	SISERRAAMENQRSYSMERTREAQG	SISERRAAMENQQSYSMERTREAQG	3.0	7.0	unscreened	-	3881_8:104898050-104898050 G>A_SISERRAAMENQQSYSMERTREAQG
1:115221019-115221019 C>T	0.0	3881	MELANOMA	-	-	-	-	AMPD1	uc001efe.2,p.E376K|uc001eff.2,p.E372K|ENST00000520113,p.E376K|ENST00000353928,p.E343K|NM_001172626,p.E372K|ENST00000369538,p.E372K|NM_000036,p.E376K	protein_coding, nonsense_mediated_decay	uc001eff.2	nonsynonymous SNV	exon7	c.G1114A	p.E372K	VYSTKEKNLTLKELFAKLKMHPYDL	VYSTKEKNLTLKKLFAKLKMHPYDL	1.0	3.0	unscreened	-	3881_1:115221019-115221019 C>T_VYSTKEKNLTLKKLFAKLKMHPYDL
22:32756308-32756308 G>A	1.0	3881	MELANOMA	-	-	ID=COSM1033607,COSM1033606;OCCURENCE=1(endometrium)	-	RFPL3	NM_001098535,p.R148Q|uc010gwn.3,p.R119Q|NM_006604,p.R119Q|ENST00000382088,p.R119Q|ENST00000397468,p.R119Q|uc003amj.3,p.R148Q|ENST00000249007,p.R148Q	protein_coding	uc010gwn.3	nonsynonymous SNV	exon3	c.G356A	p.R119Q	NFLLISDDLRSVRSGLITQNRQDLA	NFLLISDDLRSVQSGLITQNRQDLA	1.0	5.0	unscreened	-	3881_22:32756308-32756308 G>A_NFLLISDDLRSVQSGLITQNRQDLA
8:145699910-145699910 C>T	0.0	3881	MELANOMA	-	-	-	-	FOXH1	uc003zdc.3,p.R270K|ENST00000377317,p.R270K|NM_003923,p.R270K	protein_coding, processed_transcript	uc003zdc.3	nonsynonymous SNV	exon3	c.G809A	p.R270K	TAVPGGRSSGGHRASLWGQLPTSYL	TAVPGGRSSGGHKASLWGQLPTSYL	1.0	4.0	unscreened	-	3881_8:145699910-145699910 C>T_TAVPGGRSSGGHKASLWGQLPTSYL
13:109475538-109475538 A>T	0.0	3881	MELANOMA	-	-	-	-	MYO16	ENST00000357550,p.M315L|ENST00000251041,p.M315L|uc001vqt.1,p.M315L|NM_015011,p.M315L|ENST00000356711,p.M315L|uc001vqu.1,p.M115L|NM_001198950,p.M337L|uc010agk.2,p.M337L	protein_coding, processed_transcript	uc010agk.2	nonsynonymous SNV	exon9	c.A1009T	p.M337L	MLLKAEIAWEEKMKEPLSASTLAQE	MLLKAEIAWEEKLKEPLSASTLAQE	1.0	5.0	unscreened	-	3881_13:109475538-109475538 A>T_MLLKAEIAWEEKLKEPLSASTLAQE
1:54060071-54060071 G>A	0.0	3881	MELANOMA	-	-	-	-	GLIS1	NM_147193,p.P169S|uc001cvr.1,p.P169S|ENST00000312233,p.P169S	protein_coding	uc001cvr.1	nonsynonymous SNV	exon3	c.C505T	p.P169S	FGPHQQGLPPPYPLSQLPPGPSLGG	FGPHQQGLPPPYSLSQLPPGPSLGG	1.0	6.0	unscreened	-	3881_1:54060071-54060071 G>A_FGPHQQGLPPPYSLSQLPPGPSLGG
18:31537381-31537381 C>T	0.0	3881	MELANOMA	-	-	-	-	NOL4	ENST00000535384,p.R161Q|ENST00000261592,p.R446Q|uc010xbs.2,p.R161Q|NM_003787,p.R446Q|ENST00000538587,p.R372Q|NM_001198547,p.R372Q|uc010xbt.2,p.R372Q|uc010dmi.3,p.R446Q|NM_001198549,p.R161Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xbt.2	nonsynonymous SNV	exon8	c.G1115A	p.R372Q	KEKIQAIIDSCRRQFPEYQERARKR	KEKIQAIIDSCRQQFPEYQERARKR	1.0	3.0	unscreened	-	3881_18:31537381-31537381 C>T_KEKIQAIIDSCRQQFPEYQERARKR
17:6978698-6978698 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1709693;OCCURENCE=1(skin)	-	CLEC10A	NM_182906,p.D255N|ENST00000571664,p.D231N|uc002gek.3,p.D255N|ENST00000416562,p.D228N|ENST00000254868,p.D255N|uc002gej.3,p.D231N|NM_006344,p.D231N	retained_intron, protein_coding	uc002gek.3	nonsynonymous SNV	exon8	c.G763A	p.D255N	DPEGAWKWVDGTDYATGFQNWKPGQ	DPEGAWKWVDGTNYATGFQNWKPGQ	5.0	7.0	unscreened	-	3881_17:6978698-6978698 C>T_DPEGAWKWVDGTNYATGFQNWKPGQ
19:43859878-43859878 G>A	0.0	3881	MELANOMA	-	-	-	-	CD177	ENST00000378009,p.E149K|uc002owi.3,p.E149K	protein_coding	uc002owi.3	nonsynonymous SNV	exon4	c.G445A	p.E149K	LSMEGCLEGTTEEICPKGTTHCYDG	LSMEGCLEGTTEKICPKGTTHCYDG	3.0	3.0	unscreened	-	3881_19:43859878-43859878 G>A_LSMEGCLEGTTEKICPKGTTHCYDG
3:21466998-21466998 T>G	0.0	3881	MELANOMA	-	-	-	-	ZNF385D	uc003cce.3,p.T280P|NM_024697,p.T280P|ENST00000281523,p.T280P	protein_coding, processed_transcript, nonsense_mediated_decay	uc003cce.3	nonsynonymous SNV	exon6	c.A838C	p.T280P	HCEICDVHVNSETQLKQHISSRRHK	HCEICDVHVNSEPQLKQHISSRRHK	4.0	5.0	unscreened	-	3881_3:21466998-21466998 T>G_HCEICDVHVNSEPQLKQHISSRRHK
18:28913621-28913621 G>A	0.0	3881	MELANOMA	-	-	-	-	DSG1	NM_001942,p.E252K|uc002kwp.3,p.E252K|ENST00000257192,p.E252K	protein_coding	uc002kwp.3	nonsynonymous SNV	exon7	c.G754A	p.E252K	SDRDGGADGMSAECECNIKILDVND	SDRDGGADGMSAKCECNIKILDVND	1.0	7.0	unscreened	-	3881_18:28913621-28913621 G>A_SDRDGGADGMSAKCECNIKILDVND
1:204955239-204955239 G>A	0.0	3881	MELANOMA	-	-	-	-	NFASC	NM_001160332,p.G926R|ENST00000367172,p.G930R|NM_015090,p.G926R|ENST00000404907,p.G926R|ENST00000338586,p.G930R|uc001hbk.1,p.G736R|ENST00000539706,p.G926R|ENST00000367170,p.G930R|ENST00000513543,p.G926R|ENST00000360049,p.G926R|ENST00000338515,p.G930R|NM_001160331,p.G941R|uc001hbi.3,p.G926R|uc010prc.2,p.G497R|ENST00000430393,p.G917R|uc010prb.2,p.G941R|ENST00000404076,p.G909R|uc010pra.2,p.G926R|ENST00000367171,p.G915R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010prc.2	nonsynonymous SNV	exon22	c.G1489A	p.G497R	PRSETKEFTTPEGVPSAPRRFRVRQ	PRSETKEFTTPERVPSAPRRFRVRQ	3.0	5.0	unscreened	-	3881_1:204955239-204955239 G>A_PRSETKEFTTPERVPSAPRRFRVRQ
2:163256867-163256867 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1400486;OCCURENCE=1(large_intestine),1(lung)	-	KCNH7	ENST00000332142,p.R747W|NM_033272,p.R747W|uc002uch.2,p.R747W	protein_coding, processed_transcript	uc002uch.2	nonsynonymous SNV	exon10	c.C2239T	p.R747W	LNQTLLQNCKAFRGASKGCLRALAM	LNQTLLQNCKAFWGASKGCLRALAM	1.0	5.0	unscreened	-	3881_2:163256867-163256867 G>A_LNQTLLQNCKAFWGASKGCLRALAM
1:167096994-167096994 G>A	0.0	3881	MELANOMA	-	-	-	-	DUSP27	uc001geb.1,p.E876K|ENST00000361200,p.E876K|ENST00000271385,p.E876K|ENST00000443333,p.E876K|NM_001080426,p.E876K	protein_coding, processed_transcript	uc001geb.1	nonsynonymous SNV	exon5	c.G2626A	p.E876K	KRSSLFKKKKVKEDEDDGVGDGDED	KRSSLFKKKKVKKDEDDGVGDGDED	1.0	2.0	unscreened	-	3881_1:167096994-167096994 G>A_KRSSLFKKKKVKKDEDDGVGDGDED
5:79026335-79026335 G>A	0.0	3881	MELANOMA	-	-	-	-	CMYA5	NM_153610,p.E583K|uc003kgc.3,p.E583K|ENST00000446378,p.E583K	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.G1747A	p.E583K	SPEHVALSEEEREEIASVSTGSAFV	SPEHVALSEEERKEIASVSTGSAFV	3.0	3.0	unscreened	-	3881_5:79026335-79026335 G>A_SPEHVALSEEERKEIASVSTGSAFV
19:40902104-40902104 C>T	0.0	3881	MELANOMA	-	-	-	-	PRX	uc002onr.3,p.V719I|uc002onq.3,p.V580I|NM_181882,p.V719I|ENST00000324001,p.V719I	protein_coding, processed_transcript	uc002onr.3	nonsynonymous SNV	exon7	c.G2155A	p.V719I	PEVQLPKVCEMKVPDMKLPEIKLPK	PEVQLPKVCEMKIPDMKLPEIKLPK	1.0	5.0	unscreened	-	3881_19:40902104-40902104 C>T_PEVQLPKVCEMKIPDMKLPEIKLPK
19:18170730-18170730 C>T	0.0	3881	MELANOMA	-	-	-	-	IL12RB1	uc002nhw.1,p.E653K|NM_005535,p.E653K|ENST00000430026,p.E653K|NM_001290024,p.E693K|ENST00000600835,p.E653K|uc002nhx.1,p.E693K	retained_intron, protein_coding	uc002nhx.1	nonsynonymous SNV	exon17	c.G2077A	p.E693K	APELALDTELSLEDGDRCKAKM	APELALDTELSLKDGDRCKAKM	6.0	8.0	unscreened	-	3881_19:18170730-18170730 C>T_APELALDTELSLKDGDRCKAKM
4:147861052-147861052 G>A	0.0	3881	MELANOMA	-	-	-	-	TTC29	NM_001300761,p.S25F|ENST00000515315,p.S25F|ENST00000513335,p.S25F|ENST00000398886,p.S25F|uc003ikx.4,p.S25F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ikx.4	nonsynonymous SNV	exon4	c.C74T	p.S25F	GTLWKSLHSSSESEMTTLPPLPMTR	GTLWKSLHSSSEFEMTTLPPLPMTR	1.0	7.0	unscreened	-	3881_4:147861052-147861052 G>A_GTLWKSLHSSSEFEMTTLPPLPMTR
2:207825643-207825643 G>A	0.0	3881	MELANOMA	-	-	ID=COSM209743;OCCURENCE=1(large_intestine)	-	CPO	NM_173077,p.R184Q|uc002vby.2,p.R184Q|ENST00000272852,p.R184Q	protein_coding	uc002vby.2	nonsynonymous SNV	exon6	c.G551A	p.R184Q	HNNGTCFGTDLNRNFNASWCSIGAS	HNNGTCFGTDLNQNFNASWCSIGAS	3.0	3.0	unscreened	-	3881_2:207825643-207825643 G>A_HNNGTCFGTDLNQNFNASWCSIGAS
19:3831868-3831868 C>T	0.0	3881	MELANOMA	-	-	-	-	ZFR2	ENST00000262961,p.E130K|NM_015174,p.E130K|uc002lyw.2,p.E130K|ENST00000438164,p.E130K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lyw.2	nonsynonymous SNV	exon4	c.G388A	p.E130K	MTAADSGQPGTQEACGQPSPHGSHS	MTAADSGQPGTQKACGQPSPHGSHS	1.0	2.0	unscreened	-	3881_19:3831868-3831868 C>T_MTAADSGQPGTQKACGQPSPHGSHS
X:122599587-122599587 A>C	0.0	3881	MELANOMA	-	-	-	-	GRIA3	uc004etr.4,p.N796T|ENST00000371251,p.N796T|ENST00000542149,p.N796T|NM_000828,p.N796T|ENST00000264357,p.N796T	protein_coding, processed_transcript	uc004etr.4	nonsynonymous SNV	exon14	c.A2387C	p.N796T	KLNEQGLLDKLKNKWWYDKGECGSG	KLNEQGLLDKLKTKWWYDKGECGSG	3.0	8.0	unscreened	-	3881_X:122599587-122599587 A>C_KLNEQGLLDKLKTKWWYDKGECGSG
19:46095106-46095106 C>T	0.0	3881	MELANOMA	-	-	-	-	GPR4	ENST00000323040,p.E7K|uc002pcm.3,p.E7K|NM_005282,p.E7K|uc021uvw.1,p.E7K	protein_coding, processed_transcript	uc021uvw.1	nonsynonymous SNV	exon1	c.G19A	p.E7K	MGNHTWEGCHVDSRVDHLF	MGNHTWKGCHVDSRVDHLF	4.0	7.0	unscreened	-	3881_19:46095106-46095106 C>T_MGNHTWKGCHVDSRVDHLF
17:7948617-7948617 A>T	0.0	3881	MELANOMA	-	-	-	-	ALOX15B	uc002gjw.3,p.N304I|ENST00000380173,p.N304I|ENST00000572022,p.N304I|uc002gjv.3,p.N304I|NM_001141,p.N304I|uc010cnp.3,p.N110I|NM_001039131,p.N304I|uc010vun.2,p.N304I|NM_001039130,p.N304I|ENST00000380183,p.N304I|ENST00000573359,p.N304I|uc002gju.3,p.N304I	retained_intron, protein_coding	uc010vun.2	nonsynonymous SNV	exon7	c.A911T	p.N304I	HGILSGIQTNVINGKPQFSAAPMTL	HGILSGIQTNVIIGKPQFSAAPMTL	1.0	6.0	unscreened	-	3881_17:7948617-7948617 A>T_HGILSGIQTNVIIGKPQFSAAPMTL
2:192820994-192820994 C>T	0.0	3881	MELANOMA	-	-	-	-	TMEFF2	uc031rqm.1,p.E286K|ENST00000392314,p.E286K|ENST00000272771,p.E286K|uc002utc.3,p.E286K|NM_016192,p.E286K	protein_coding, processed_transcript	uc031rqm.1	nonsynonymous SNV	exon8	c.G856A	p.E286K	MHGKCEHSINMQEPSCRCDAGYTGQ	MHGKCEHSINMQKPSCRCDAGYTGQ	1.0	7.0	unscreened	-	3881_2:192820994-192820994 C>T_MHGKCEHSINMQKPSCRCDAGYTGQ
8:144942563-144942563 T>C	0.0	3881	MELANOMA	-	-	-	-	EPPK1	uc003zaa.1,p.N1620S	protein_coding	uc003zaa.1	nonsynonymous SNV	exon1	c.A4859G	p.N1620S	QAATGFIIDPAENRKLTVEEAFKAG	QAATGFIIDPAESRKLTVEEAFKAG	1.0	3.0	unscreened	-	3881_8:144942563-144942563 T>C_QAATGFIIDPAESRKLTVEEAFKAG
8:69046299-69046299 G>A	0.0	3881	MELANOMA	-	-	-	1	PREX2	ENST00000288368,p.E1258K|uc003xxv.1,p.E1258K|NM_024870,p.E1258K	protein_coding, processed_transcript	uc003xxv.1	nonsynonymous SNV	exon32	c.G3772A	p.E1258K	RLLLALLEYSDSETQLRRDMVFCQT	RLLLALLEYSDSKTQLRRDMVFCQT	4.0	7.0	unscreened	-	3881_8:69046299-69046299 G>A_RLLLALLEYSDSKTQLRRDMVFCQT
19:9089213-9089213 C>T	0.0	3881	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.E868K|NM_024690,p.E868K|uc002mkp.3,p.E868K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G2602A	p.E868K	STHLFTSGEETEETSNPSVSQPETS	STHLFTSGEETEKTSNPSVSQPETS	1.0	8.0	unscreened	-	3881_19:9089213-9089213 C>T_STHLFTSGEETEKTSNPSVSQPETS
1:76387923-76387923 C>T	0.0	3881	MELANOMA	-	-	-	-	ASB17	NM_080868,p.E175K|ENST00000284142,p.E175K|uc001dhe.2,p.E175K	protein_coding	uc001dhe.2	nonsynonymous SNV	exon2	c.G523A	p.E175K	FKILLQYGILEREKNPINIVLTIVL	FKILLQYGILERKKNPINIVLTIVL	1.0	5.0	unscreened	-	3881_1:76387923-76387923 C>T_FKILLQYGILERKKNPINIVLTIVL
7:143633023-143633023 G>A	0.0	3881	MELANOMA	0.0	-	-	-	OR2F2	ENST00000408955,p.G233E|uc011ktv.2,p.G233E|NM_001004685,p.G233E	protein_coding	uc011ktv.2	nonsynonymous SNV	exon1	c.G698A	p.G233E	IISTILKIQSREGRKKAFHTCASHL	IISTILKIQSREERKKAFHTCASHL	1.0	7.0	unscreened	-	3881_7:143633023-143633023 G>A_IISTILKIQSREERKKAFHTCASHL
13:38320212-38320212 C>G	0.0	3881	MELANOMA	-	-	-	-	TRPC4	NM_003306,p.K253N|ENST00000379705,p.K253N|ENST00000379681,p.K253N|ENST00000426868,p.K253N|uc010tey.2,p.K253N|uc001uwt.3,p.K253N|uc010aby.3,p.K253N|ENST00000379673,p.K253N|NM_016179,p.K253N|ENST00000488717,p.K253N|uc001uws.3,p.K253N|NM_001135955,p.K253N|ENST00000355779,p.K253N|ENST00000447043,p.K253N|uc010abx.3,p.K253N|ENST00000358477,p.K253N|NM_001135957,p.K253N|NM_001135956,p.K253N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tey.2	nonsynonymous SNV	exon3	c.G759C	p.K253N	YEELSRQCKQFAKDLLDQTRSSREL	YEELSRQCKQFANDLLDQTRSSREL	1.0	4.0	unscreened	-	3881_13:38320212-38320212 C>G_YEELSRQCKQFANDLLDQTRSSREL
2:168103703-168103703 G>A	0.0	3881	MELANOMA	-	-	-	-	XIRP2	NM_152381,p.R1934K|ENST00000295237,p.R1934K|NM_001199144,p.R1712K|uc002udx.3,p.R1934K|ENST00000409195,p.R1934K|ENST00000409273,p.R1712K|uc002udy.3,p.R1759K|uc010fpq.3,p.R1712K	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G5135A	p.R1712K	LETSLRSLKEAQRSFKEVHKEGVIK	LETSLRSLKEAQKSFKEVHKEGVIK	1.0	3.0	unscreened	-	3881_2:168103703-168103703 G>A_LETSLRSLKEAQKSFKEVHKEGVIK
1:237754162-237754162 G>A	0.0	3881	MELANOMA	-	-	-	-	RYR2	ENST00000542537,p.E1328K|uc001hyl.1,p.E1344K|ENST00000366574,p.E1344K|ENST00000360064,p.E1342K|NM_001035,p.E1344K	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon31	c.G4030A	p.E1344K	NDLEDYDADSDFEVLMKTAHGHLVP	NDLEDYDADSDFKVLMKTAHGHLVP	3.0	7.0	unscreened	-	3881_1:237754162-237754162 G>A_NDLEDYDADSDFKVLMKTAHGHLVP
15:94858860-94858860 C>T	0.0	3881	MELANOMA	-	-	ID=COSM138068;OCCURENCE=1(skin)	-	MCTP2	uc002btj.3,p.R211C|ENST00000543482,p.R211C|uc010bok.3,p.R211C|ENST00000357742,p.R211C|NM_018349,p.R211C|uc010urg.1,p.R211C|uc002bth.4,p.R211C|uc002btg.4,p.R211C|NM_001159643,p.R211C|uc002bti.2,p.R211C|ENST00000451018,p.R211C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010urg.1	nonsynonymous SNV	exon4	c.C631T	p.R211C	HLKEGRNLVVRDRCGTSDPYVKFKL	HLKEGRNLVVRDCCGTSDPYVKFKL	3.0	3.0	unscreened	-	3881_15:94858860-94858860 C>T_HLKEGRNLVVRDCCGTSDPYVKFKL
19:49120066-49120066 G>A	1.0	3881	MELANOMA	-	-	-	-	RPL18	ENST00000549370,p.A69V	retained_intron, protein_coding, nonsense_mediated_decay, non_stop_decay	ENST00000549370	nonsynonymous SNV	exon4	c.C206T	p.A69V	ASVPFPDDPEDEASWPGKQDGRGCG	ASVPFPDDPEDEVSWPGKQDGRGCG	10.0	5.0	unscreened	-	3881_19:49120066-49120066 G>A_ASVPFPDDPEDEVSWPGKQDGRGCG
5:141335939-141335939 C>T	0.0	3881	MELANOMA	-	-	-	-	PCDH12	ENST00000231484,p.G493E|NM_016580,p.G493E|uc003llx.3,p.G493E	protein_coding, processed_transcript	uc003llx.3	nonsynonymous SNV	exon1	c.G1478A	p.G493E	TIKAHDADLGINGKVSYRIQDSPVA	TIKAHDADLGINEKVSYRIQDSPVA	4.0	4.0	unscreened	-	3881_5:141335939-141335939 C>T_TIKAHDADLGINEKVSYRIQDSPVA
10:102987212-102987212 C>T	0.0	3881	MELANOMA	-	-	-	-	LBX1	ENST00000370193,p.G221S|NM_006562,p.G221S|uc001ksx.3,p.G221S	protein_coding	uc001ksx.3	nonsynonymous SNV	exon2	c.G661A	p.G221S	AELEQNSEATAGGGGGCGRAKSRPG	AELEQNSEATAGSGGGCGRAKSRPG	1.0	8.0	unscreened	-	3881_10:102987212-102987212 C>T_AELEQNSEATAGSGGGCGRAKSRPG
X:70389123-70389123 C>T	0.0	3881	MELANOMA	-	-	-	-	NLGN3	NM_181303,p.P575S|ENST00000536169,p.P535S|ENST00000374051,p.P555S|uc004dzd.2,p.P575S|uc011mps.2,p.P535S|ENST00000358741,p.P575S|NM_018977,p.P555S|uc004dze.3,p.P373S|uc004dzc.3,p.P438S|uc004dzb.3,p.P555S|NM_001166660,p.P535S	protein_coding, processed_transcript	uc011mps.2	nonsynonymous SNV	exon6	c.C1603T	p.P535S	NFAKTGDPNKPVPQDTKFIHTKANR	NFAKTGDPNKPVSQDTKFIHTKANR	4.0	3.0	unscreened	-	3881_X:70389123-70389123 C>T_NFAKTGDPNKPVSQDTKFIHTKANR
13:67800621-67800621 C>T	0.0	3881	MELANOMA	-	-	-	-	PCDH9	ENST00000328454,p.G651E|uc001vil.3,p.G651E|ENST00000544246,p.G651E|ENST00000377865,p.G651E|NM_020403,p.G651E|uc001vik.3,p.G651E|ENST00000377861,p.G651E|uc001vin.3,p.G651E|uc010thl.2,p.G651E|NM_203487,p.G651E|ENST00000456367,p.G651E	protein_coding	uc010thl.2	nonsynonymous SNV	exon2	c.G1952A	p.G651E	SSYTFDVKATDGGQPPRSSTAKVTI	SSYTFDVKATDGEQPPRSSTAKVTI	5.0	3.0	unscreened	-	3881_13:67800621-67800621 C>T_SSYTFDVKATDGEQPPRSSTAKVTI
X:107834841-107834841 G>A	0.0	3881	MELANOMA	-	-	-	-	COL4A5	uc022ccg.2,p.D464N|ENST00000328300,p.D464N|ENST00000361603,p.D464N|NM_000495,p.D464N|uc004enz.2,p.D464N|uc004eob.1,p.D72N	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon21	c.G1390A	p.D464N	EPGPPGPPGSPGDKGLQGEQGVKGD	EPGPPGPPGSPGNKGLQGEQGVKGD	8.0	3.0	unscreened	-	3881_X:107834841-107834841 G>A_EPGPPGPPGSPGNKGLQGEQGVKGD
16:48145763-48145763 C>T	0.0	3881	MELANOMA	-	-	-	-	ABCC12	ENST00000448542,p.G683E|uc002efc.1,p.G683E|ENST00000532494,p.G683E|ENST00000529504,p.G683E|ENST00000497206,p.G683E|ENST00000534418,p.G625E|ENST00000311303,p.G683E|NM_033226,p.G683E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002efc.1	nonsynonymous SNV	exon14	c.G2048A	p.G683E	VILLEDGEICEKGTHKELMEERGRY	VILLEDGEICEKETHKELMEERGRY	1.0	7.0	unscreened	-	3881_16:48145763-48145763 C>T_VILLEDGEICEKETHKELMEERGRY
15:58932990-58932990 A>G	1.0	3881	MELANOMA	-	-	-	-	ADAM10	ENST00000260408,p.V333A|NM_001110,p.V333A|ENST00000402627,p.V32A|uc010ugz.1,p.V32A|uc002afd.1,p.V333A|ENST00000396140,p.V32A|ENST00000559053,p.V32A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ugz.1	nonsynonymous SNV	exon2	c.T95C	p.V32A	RDFDDGVLGLAWVGAPSGSSGGICE	RDFDDGVLGLAWAGAPSGSSGGICE	10.0	6.0	unscreened	-	3881_15:58932990-58932990 A>G_RDFDDGVLGLAWAGAPSGSSGGICE
17:36485401-36485401 C>T	0.0	3881	MELANOMA	-	-	-	-	GPR179	uc002hpz.3,p.D1351N|NM_001004334,p.D1351N|ENST00000342292,p.D1351N	retained_intron, protein_coding, processed_transcript	uc002hpz.3	nonsynonymous SNV	exon11	c.G4051A	p.D1351N	DPGRIRDKSEAGDSVEARKVEKPGW	DPGRIRDKSEAGNSVEARKVEKPGW	2.0	3.0	unscreened	-	3881_17:36485401-36485401 C>T_DPGRIRDKSEAGNSVEARKVEKPGW
12:39973421-39973421 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1705394;OCCURENCE=1(skin)	-	ABCD2	uc001rmb.2,p.G598E|ENST00000308666,p.G598E|NM_005164,p.G598E	protein_coding	uc001rmb.2	nonsynonymous SNV	exon8	c.G1793A	p.G598E	NVHLYHIVQREGGWDAVMDWKDVLS	NVHLYHIVQREGEWDAVMDWKDVLS	3.0	5.0	unscreened	-	3881_12:39973421-39973421 C>T_NVHLYHIVQREGEWDAVMDWKDVLS
14:104481129-104481129 G>A	0.0	3881	MELANOMA	-	-	-	-	TDRD9	ENST00000339063,p.R725Q|uc001yon.4,p.R463Q|ENST00000409874,p.R725Q|uc001yom.4,p.R725Q|NM_153046,p.R725Q	retained_intron, protein_coding, processed_transcript	uc001yon.4	nonsynonymous SNV	exon16	c.G1388A	p.R463Q	RISQFNMHVDSRRPVMDQEYIYKQR	RISQFNMHVDSRQPVMDQEYIYKQR	3.0	5.0	unscreened	-	3881_14:104481129-104481129 G>A_RISQFNMHVDSRQPVMDQEYIYKQR
11:46407288-46407288 C>T	0.0	3881	MELANOMA	-	-	-	-	CHRM4	uc001nct.1,p.E274K|NM_000741,p.E274K|ENST00000433765,p.E274K	protein_coding	uc001nct.1	nonsynonymous SNV	exon1	c.G820A	p.E274K	AAREELRNGKLEEAPPPALPPPPRP	AAREELRNGKLEKAPPPALPPPPRP	1.0	5.0	unscreened	-	3881_11:46407288-46407288 C>T_AAREELRNGKLEKAPPPALPPPPRP
2:149240861-149240861 C>T	0.0	3881	MELANOMA	-	-	-	-	MBD5	uc002twm.4,p.P901S|ENST00000407073,p.P901S|ENST00000404807,p.P901S|NM_018328,p.P901S	retained_intron, protein_coding, processed_transcript	uc002twm.4	nonsynonymous SNV	exon10	c.C2701T	p.P901S	FPFVGQEHALHFPSNSTSNNHLPHP	FPFVGQEHALHFSSNSTSNNHLPHP	6.0	7.0	unscreened	-	3881_2:149240861-149240861 C>T_FPFVGQEHALHFSSNSTSNNHLPHP
1:157067690-157067690 C>T	0.0	3881	MELANOMA	-	-	-	-	ETV3L	ENST00000454449,p.D193N|uc001fqq.2,p.D193N|NM_001004341,p.D193N	protein_coding	uc001fqq.2	nonsynonymous SNV	exon4	c.G577A	p.D193N	QQTPRGPPETSGDKKGSSSSVYRLG	QQTPRGPPETSGNKKGSSSSVYRLG	3.0	2.0	unscreened	-	3881_1:157067690-157067690 C>T_QQTPRGPPETSGNKKGSSSSVYRLG
19:55493038-55493038 G>A	0.0	3881	MELANOMA	-	-	-	-	NLRP2	ENST00000543010,p.G151R|NM_017852,p.G151R|ENST00000427260,p.G128R|uc010yfp.2,p.G128R|NM_001174083,p.G128R|uc010esn.3,p.G127R|NM_001174081,p.G151R|uc002qij.3,p.G151R|ENST00000397169,p.G83R|ENST00000391721,p.G127R|ENST00000448584,p.G151R|uc010eso.3,p.G148R|ENST00000263437,p.G148R|ENST00000538819,p.G127R|uc021vbq.1,p.G151R|ENST00000585500,p.G82R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vbq.1	nonsynonymous SNV	exon5	c.G451A	p.G151R	GNVICLGKEVFKGKKPDKDNRCRYI	GNVICLGKEVFKRKKPDKDNRCRYI	3.0	8.0	unscreened	-	3881_19:55493038-55493038 G>A_GNVICLGKEVFKRKKPDKDNRCRYI
14:94942498-94942498 C>A	0.0	3881	MELANOMA	-	-	-	-	SERPINA9	ENST00000538527,p.G32W	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000538527	nonsynonymous SNV	exon1	c.G94T	p.G32W	KQVSGLTNHARTGQEKRNLQRHILF	KQVSGLTNHARTWQEKRNLQRHILF	1.0	6.0	unscreened	-	3881_14:94942498-94942498 C>A_KQVSGLTNHARTWQEKRNLQRHILF
22:26688780-26688780 G>A	0.0	3881	MELANOMA	-	-	-	-	SEZ6L	NM_001184775,p.G168E|ENST00000404234,p.G168E|uc003ace.3,p.G168E|ENST00000529632,p.G168E|NM_001184777,p.G168E|NM_001184773,p.G168E|NM_021115,p.G168E|uc011akd.2,p.G168E|ENST00000360929,p.G168E|NM_001184776,p.G168E|ENST00000248933,p.G168E|ENST00000343706,p.G168E|uc003acb.3,p.G168E|uc011akc.2,p.G168E|NM_001184774,p.G168E|uc003acd.3,p.G168E|uc003acc.3,p.G168E	retained_intron, protein_coding, processed_transcript	uc011akd.2	nonsynonymous SNV	exon2	c.G503A	p.G168E	LLSSSTEKPGPPGDPDPIVASEEAS	LLSSSTEKPGPPEDPDPIVASEEAS	1.0	8.0	unscreened	-	3881_22:26688780-26688780 G>A_LLSSSTEKPGPPEDPDPIVASEEAS
22:37491964-37491964 C>T	0.0	3881	MELANOMA	-	-	-	-	TMPRSS6	ENST00000346753,p.E200K|uc003aqu.3,p.E191K|uc003aqt.1,p.E191K|uc003aqs.1,p.E200K|ENST00000381792,p.E191K|ENST00000406725,p.E191K|NM_001289000,p.E191K|ENST00000406856,p.E191K|NM_153609,p.E200K|NM_001289001,p.E191K|ENST00000442782,p.E200K	protein_coding	uc003aqu.3	nonsynonymous SNV	exon5	c.G571A	p.E191K	AVPYRAEYEVDPEGLVILEASVKDI	AVPYRAEYEVDPKGLVILEASVKDI	1.0	5.0	unscreened	-	3881_22:37491964-37491964 C>T_AVPYRAEYEVDPKGLVILEASVKDI
18:28725740-28725740 C>T	0.0	3881	MELANOMA	-	-	-	-	DSC1	NM_004948,p.G258E|uc002kwn.3,p.G258E|uc002kwm.3,p.G258E|ENST00000257197,p.G258E|ENST00000257198,p.G258E|NM_024421,p.G258E	protein_coding	uc002kwn.3	nonsynonymous SNV	exon7	c.G773A	p.G258E	VTIFTVPENCRSGTSVGKVTATDLD	VTIFTVPENCRSETSVGKVTATDLD	1.0	4.0	unscreened	-	3881_18:28725740-28725740 C>T_VTIFTVPENCRSETSVGKVTATDLD
19:44376906-44376906 C>T	0.0	3881	MELANOMA	-	-	-	-	ZNF404	ENST00000324394,p.R485K|ENST00000587539,p.R487K|uc031rle.1,p.R487K|uc031rld.1,p.R453K	protein_coding, processed_transcript	uc031rle.1	nonsynonymous SNV	exon3	c.G1460A	p.R487K	AFRSISGLSQHKRIHTGEKPYECKE	AFRSISGLSQHKKIHTGEKPYECKE	5.0	4.0	unscreened	-	3881_19:44376906-44376906 C>T_AFRSISGLSQHKKIHTGEKPYECKE
2:33783897-33783897 G>A	0.0	3881	MELANOMA	-	-	-	-	RASGRP3	uc002rox.3,p.E622K|uc010ync.2,p.E622K|uc002roy.3,p.E621K|ENST00000402538,p.E622K|ENST00000403687,p.E622K|NM_001139488,p.E622K|ENST00000407811,p.E621K|NM_170672,p.E622K|NM_015376,p.E621K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ync.2	nonsynonymous SNV	exon17	c.G1864A	p.E622K	TSQATQTEPVWSEAGWGDSGSHTFP	TSQATQTEPVWSKAGWGDSGSHTFP	6.0	4.0	unscreened	-	3881_2:33783897-33783897 G>A_TSQATQTEPVWSKAGWGDSGSHTFP
2:168114926-168114926 C>T	0.0	3881	MELANOMA	-	-	-	-	XIRP2	NM_001199145,p.P402S|ENST00000420519,p.P657S|ENST00000409728,p.P657S|ENST00000409043,p.P624S|uc010fpn.3,p.P657S|ENST00000409605,p.P402S|uc010fpr.3,p.P402S|ENST00000409756,p.P624S|NM_001079810,p.P624S|uc010fpo.3,p.P624S|NM_001199143,p.P657S	protein_coding	uc010fpr.3	nonsynonymous SNV	exon8	c.C1204T	p.P402S	KEDVIGIKEMKMPEGRKDEKKEGRK	KEDVIGIKEMKMSEGRKDEKKEGRK	1.0	8.0	unscreened	-	3881_2:168114926-168114926 C>T_KEDVIGIKEMKMSEGRKDEKKEGRK
18:28898266-28898266 G>A	0.0	3881	MELANOMA	-	-	-	-	DSG1	NM_001942,p.M1I|uc002kwp.3,p.M1I|ENST00000257192,p.M1I	protein_coding	uc002kwp.3	nonsynonymous SNV	exon1	c.G3A	p.M1I	MDWSFFRVVAMLF	IDWSFFRVVAMLF	1.0	3.0	unscreened	-	3881_18:28898266-28898266 G>A_IDWSFFRVVAMLF
14:94088950-94088950 C>T	0.0	3881	MELANOMA	-	-	-	-	UNC79	ENST00000393151,p.P1791S|uc001ybs.1,p.P1614S|ENST00000555664,p.P1791S|NM_020818,p.P1614S|uc001ybv.1,p.P1636S|ENST00000553484,p.P1813S|ENST00000256339,p.P1614S	retained_intron, protein_coding	uc001ybv.1	nonsynonymous SNV	exon28	c.C4906T	p.P1636S	PSSGAKTVLLKVPEDAENPTESEKP	PSSGAKTVLLKVSEDAENPTESEKP	1.0	7.0	unscreened	-	3881_14:94088950-94088950 C>T_PSSGAKTVLLKVSEDAENPTESEKP
3:133099154-133099154 G>A	0.0	3881	MELANOMA	-	-	ID=COSM110078;OCCURENCE=1(skin)	-	TMEM108	uc003epj.1,p.R200Q|uc003epi.3,p.R200Q|NM_001136469,p.R200Q|ENST00000393130,p.R200Q|uc003eph.3,p.R200Q|NM_023943,p.R200Q|ENST00000321871,p.R200Q|ENST00000515826,p.R200Q	retained_intron, protein_coding, processed_transcript	uc003epj.1	nonsynonymous SNV	exon3	c.G599A	p.R200Q	GGHSRSKEGQRGRNPSSTPLGQKRP	GGHSRSKEGQRGQNPSSTPLGQKRP	3.0	8.0	unscreened	-	3881_3:133099154-133099154 G>A_GGHSRSKEGQRGQNPSSTPLGQKRP
18:28916527-28916527 G>A	0.0	3881	MELANOMA	-	-	-	-	DSG1	uc002kwp.3,p.D406N|ENST00000257192,p.D406N|NM_001942,p.D406N	protein_coding	uc002kwp.3	nonsynonymous SNV	exon9	c.G1216A	p.D406N	VTGNMGSNDKVGDFVATDLDTGRPS	VTGNMGSNDKVGNFVATDLDTGRPS	1.0	7.0	unscreened	-	3881_18:28916527-28916527 G>A_VTGNMGSNDKVGNFVATDLDTGRPS
5:140181333-140181333 G>A	1.0	3881	MELANOMA	-	-	-	-	PCDHA3	ENST00000532566,p.R184K|uc003lhf.2,p.R184K|NM_018906,p.R184K|NM_031497,p.R184K|uc011czz.2,p.R184K|ENST00000522353,p.R184K	protein_coding	uc011czz.2	nonsynonymous SNV	exon1	c.G551A	p.R184K	LDSTEYFTLDVKRNDEEIKSLGLVL	LDSTEYFTLDVKKNDEEIKSLGLVL	5.0	4.0	unscreened	-	3881_5:140181333-140181333 G>A_LDSTEYFTLDVKKNDEEIKSLGLVL
22:18028785-18028785 C>T	0.0	3881	MELANOMA	-	-	-	-	CECR2	ENST00000400573,p.P1248S|NM_001290046,p.P1106S|ENST00000355219,p.P33S|ENST00000400585,p.P1106S|ENST00000262608,p.P1249S|uc010gqv.1,p.P1106S|uc002zml.2,p.P1107S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010gqv.1	nonsynonymous SNV	exon17	c.C3316T	p.P1106S	SPTRMDAVAAKVPNDGQNPGPEEEK	SPTRMDAVAAKVSNDGQNPGPEEEK	2.0	8.0	unscreened	-	3881_22:18028785-18028785 C>T_SPTRMDAVAAKVSNDGQNPGPEEEK
22:43831108-43831108 G>A	0.0	3881	MELANOMA	-	-	ID=COSM225097;OCCURENCE=1(skin)	-	MPPED1	uc011apv.2,p.E127K|ENST00000538182,p.E160K|ENST00000414469,p.E21K|ENST00000542779,p.E127K|uc011apy.2,p.E127K|uc011apz.2,p.E160K|ENST00000443721,p.E127K|ENST00000417669,p.E127K|uc011apw.2,p.E21K|NM_001044370,p.E127K	protein_coding, processed_transcript	uc011apz.2	nonsynonymous SNV	exon3	c.G478A	p.E160K	HAGDFTELGLPSEVKKFNEWLGSLP	HAGDFTELGLPSKVKKFNEWLGSLP	1.0	6.0	unscreened	-	3881_22:43831108-43831108 G>A_HAGDFTELGLPSKVKKFNEWLGSLP
19:18507391-18507391 C>T	0.0	3881	MELANOMA	-	-	-	-	LRRC25	ENST00000339007,p.R128Q|uc002niw.3,p.R128Q|uc002nix.3,p.R128Q|NM_145256,p.R128Q|ENST00000595840,p.R128Q	protein_coding	uc002nix.3	nonsynonymous SNV	exon2	c.G383A	p.R128Q	CNCALESWHDIRRDNCSGQKPLLCW	CNCALESWHDIRQDNCSGQKPLLCW	4.0	6.0	unscreened	-	3881_19:18507391-18507391 C>T_CNCALESWHDIRQDNCSGQKPLLCW
2:228678638-228678638 C>T	0.0	3881	MELANOMA	-	-	-	-	CCL20	ENST00000409189,p.T4I|NM_004591,p.T4I|NM_001130046,p.T4I|ENST00000358813,p.T4I|uc002vpm.2,p.T4I|uc002vpl.2,p.T4I	retained_intron, protein_coding, processed_transcript	uc002vpm.2	nonsynonymous SNV	exon1	c.C11T	p.T4I	MCCTKSLLLAALMSVL	MCCIKSLLLAALMSVL	3.0	5.0	unscreened	-	3881_2:228678638-228678638 C>T_MCCIKSLLLAALMSVL
2:232576063-232576063 A>G	1.0	3881	MELANOMA	-	-	-	-	PTMA	ENST00000448874,p.K26E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000448874	nonsynonymous SNV	exon2	c.A76G	p.K26E	LTWPTDAGPDGLKGEEGSCGRGRKW	LTWPTDAGPDGLEGEEGSCGRGRKW	10.0	7.0	unscreened	-	3881_2:232576063-232576063 A>G_LTWPTDAGPDGLEGEEGSCGRGRKW
19:36051499-36051499 C>T	0.0	3881	MELANOMA	-	-	-	-	ATP4A	ENST00000262623,p.D185N|uc002oal.1,p.D185N|NM_000704,p.D185N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oal.1	nonsynonymous SNV	exon6	c.G553A	p.D185N	KNLVPQQATVIRDGDKFQINADQLV	KNLVPQQATVIRNGDKFQINADQLV	1.0	7.0	unscreened	-	3881_19:36051499-36051499 C>T_KNLVPQQATVIRNGDKFQINADQLV
8:36694329-36694329 C>T	0.0	3881	MELANOMA	-	-	-	-	KCNU1	ENST00000522372,p.P462S|ENST00000399881,p.P462S|uc010lvw.3,p.P462S|NM_001031836,p.P462S	protein_coding, nonsense_mediated_decay	uc010lvw.3	nonsynonymous SNV	exon14	c.C1384T	p.P462S	LQSHNKVYLPKIPSWNWDTGDNIIC	LQSHNKVYLPKISSWNWDTGDNIIC	1.0	6.0	unscreened	-	3881_8:36694329-36694329 C>T_LQSHNKVYLPKISSWNWDTGDNIIC
20:62046361-62046361 C>T	0.0	3881	MELANOMA	-	-	-	-	KCNQ2	ENST00000360480,p.E446K|NM_172107,p.E474K|ENST00000354587,p.E446K|ENST00000359125,p.E474K|NM_172106,p.E456K|ENST00000357249,p.E456K|NM_004518,p.E446K|uc002yfb.1,p.E446K|ENST00000430658,p.E444K|uc002yfa.1,p.E456K|ENST00000359689,p.E474K|ENST00000344462,p.E434K|uc002yez.1,p.E444K|ENST00000370224,p.E446K|ENST00000370222,p.E446K|uc002yey.1,p.E474K|ENST00000370226,p.E444K|NM_172108,p.E444K	protein_coding, processed_transcript	uc002yfb.1	nonsynonymous SNV	exon11	c.G1336A	p.E446K	TVRRSPSADQSLEDSPSKVPKSWSF	TVRRSPSADQSLKDSPSKVPKSWSF	1.0	8.0	unscreened	-	3881_20:62046361-62046361 C>T_TVRRSPSADQSLKDSPSKVPKSWSF
14:100563993-100563993 G>A	0.0	3881	MELANOMA	-	-	-	-	EVL	ENST00000544450,p.G123E|uc001ygv.2,p.G123E|ENST00000392920,p.G119E|NM_016337,p.G119E|ENST00000557384,p.G13E|uc001ygu.3,p.G119E|uc001ygt.3,p.G117E|ENST00000557153,p.G104E|ENST00000402714,p.G117E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ygv.2	nonsynonymous SNV	exon3	c.G368A	p.G123E	MLFALNIMNSQEGGPSSQRQVQNGP	MLFALNIMNSQEEGPSSQRQVQNGP	9.0	6.0	unscreened	-	3881_14:100563993-100563993 G>A_MLFALNIMNSQEEGPSSQRQVQNGP
22:46654839-46654839 C>T	0.0	3881	MELANOMA	-	-	-	-	PKDREJ	ENST00000253255,p.E1461K|NM_006071,p.E1461K|uc003bhh.3,p.E1461K	protein_coding	uc003bhh.3	nonsynonymous SNV	exon1	c.G4381A	p.E1461K	TCSQRKPQADLKEVSPQKHPLMSEA	TCSQRKPQADLKKVSPQKHPLMSEA	1.0	7.0	unscreened	-	3881_22:46654839-46654839 C>T_TCSQRKPQADLKKVSPQKHPLMSEA
17:1538627-1538627 C>T	0.0	3881	MELANOMA	0.0005	-	-	-	SCARF1	uc031qxu.1,p.E612K|NM_003693,p.E640K|uc002fsz.2,p.E640K|ENST00000348987,p.E554K|ENST00000263071,p.E640K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qxu.1	nonsynonymous SNV	exon11	c.G1834A	p.E612K	EGREAEESTGPEEAEAPESFPAAAS	EGREAEESTGPEKAEAPESFPAAAS	5.0	3.0	unscreened	-	3881_17:1538627-1538627 C>T_EGREAEESTGPEKAEAPESFPAAAS
X:154221391-154221391 C>T	0.0	3881	MELANOMA	-	-	-	-	F8	uc011mzx.1,p.E106K|uc004fmt.3,p.E141K|ENST00000423959,p.E106K|ENST00000360256,p.E141K|ENST00000453950,p.E135K|NM_000132,p.E141K	protein_coding, processed_transcript	uc011mzx.1	nonsynonymous SNV	exon4	c.G316A	p.E106K	EGAEYDDQTSQREKEDDKVFPGGSH	EGAEYDDQTSQRKKEDDKVFPGGSH	5.0	3.0	unscreened	-	3881_X:154221391-154221391 C>T_EGAEYDDQTSQRKKEDDKVFPGGSH
16:57397438-57397438 G>A	0.0	3881	MELANOMA	-	-	-	-	CCL22	uc002elh.3,p.E74K|NM_002990,p.E74K|ENST00000219235,p.E74K	protein_coding	uc002elh.3	nonsynonymous SNV	exon3	c.G220A	p.E74K	RPGVVLLTFRDKEICADPRVPWVKM	RPGVVLLTFRDKKICADPRVPWVKM	4.0	8.0	unscreened	-	3881_16:57397438-57397438 G>A_RPGVVLLTFRDKKICADPRVPWVKM
2:28081370-28081370 C>T	0.0	3881	MELANOMA	-	-	-	-	RBKS	ENST00000302188,p.G53E|uc002rlo.1,p.G53E|uc010ymg.2,p.G53E|ENST00000444339,p.G53E|NM_022128,p.G53E	protein_coding, nonsense_mediated_decay	uc010ymg.2	nonsynonymous SNV	exon2	c.G158A	p.G53E	TIHGHKFFIGFGGKGANQCVQAARL	TIHGHKFFIGFGEKGANQCVQAARL	2.0	4.0	unscreened	-	3881_2:28081370-28081370 C>T_TIHGHKFFIGFGEKGANQCVQAARL
7:100678829-100678829 C>T	0.0	3881	MELANOMA	-	-	-	-	MUC17	uc003uxp.1,p.P1378S|ENST00000379439,p.P1378S|NM_001040105,p.P1378S|ENST00000306151,p.P1378S	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C4132T	p.P1378S	TPVTTSTEACSSPTTSEGTSMPNSN	TPVTTSTEACSSSTTSEGTSMPNSN	1.0	5.0	unscreened	-	3881_7:100678829-100678829 C>T_TPVTTSTEACSSSTTSEGTSMPNSN
5:23527584-23527584 G>A	0.0	3881	MELANOMA	-	-	-	-	PRDM9	ENST00000296682,p.R796K|uc003jgo.3,p.R796K|NM_020227,p.R796K	protein_coding	uc003jgo.3	nonsynonymous SNV	exon11	c.G2387A	p.R796K	GFRDKSNLLSHQRTHTGEKPYVCRE	GFRDKSNLLSHQKTHTGEKPYVCRE	1.0	4.0	unscreened	-	3881_5:23527584-23527584 G>A_GFRDKSNLLSHQKTHTGEKPYVCRE
22:43950813-43950813 G>A	0.0	3881	MELANOMA	-	-	-	-	EFCAB6	uc031rxz.1,p.T56I|uc010gzj.1,p.T421I|ENST00000396231,p.T1043I|NM_198856,p.T1043I|NM_022785,p.T1195I|uc003bdy.2,p.T1195I|uc003bdz.2,p.T1043I|uc010gzi.2,p.T1043I|ENST00000262726,p.T1195I	retained_intron, protein_coding, processed_transcript	uc031rxz.1	nonsynonymous SNV	exon2	c.C167T	p.T56I	QEFENFDTMKTNTISREEFRAICNR	QEFENFDTMKTNIISREEFRAICNR	1.0	5.0	unscreened	-	3881_22:43950813-43950813 G>A_QEFENFDTMKTNIISREEFRAICNR
X:132351368-132351368 C>T	0.0	3881	MELANOMA	-	-	-	-	TFDP3	uc004exb.1,p.G307E|NM_016521,p.G307E|ENST00000310125,p.G307E	protein_coding	uc004exb.1	nonsynonymous SNV	exon1	c.G920A	p.G307E	LMWMGMTFGLESGSCSAEDLKMARN	LMWMGMTFGLESESCSAEDLKMARN	1.0	7.0	unscreened	-	3881_X:132351368-132351368 C>T_LMWMGMTFGLESESCSAEDLKMARN
1:107691414-107691414 C>T	0.0	3881	MELANOMA	-	-	-	-	NTNG1	ENST00000370065,p.P67S|ENST00000370070,p.P67S|uc001dvh.4,p.P67S|uc001dvc.4,p.P67S|ENST00000370072,p.P67S|NM_014917,p.P67S|ENST00000370071,p.P67S|ENST00000370067,p.P67S|ENST00000370068,p.P67S|uc010out.2,p.P67S|uc001dvf.4,p.P67S|ENST00000370066,p.P67S|ENST00000370061,p.P67S|ENST00000542803,p.P67S|NM_001113228,p.P67S|ENST00000370073,p.P67S|ENST00000370074,p.P67S|uc001dvd.1,p.P67S|NM_001113226,p.P67S	protein_coding, processed_transcript	uc010out.2	nonsynonymous SNV	exon2	c.C199T	p.P67S	TDMTKYLKVKLDPPDITCGDPPETF	TDMTKYLKVKLDSPDITCGDPPETF	3.0	6.0	unscreened	-	3881_1:107691414-107691414 C>T_TDMTKYLKVKLDSPDITCGDPPETF
18:43205807-43205807 G>A	0.0	3881	MELANOMA	-	-	-	-	SLC14A2	ENST00000255226,p.E104K|uc002lbb.3,p.E104K|ENST00000586448,p.E104K|uc010dnj.3,p.E104K|NM_001242692,p.E104K|uc002lbe.3,p.E104K|ENST00000323329,p.E104K|NM_007163,p.E104K	protein_coding, nonsense_mediated_decay	uc010dnj.3	nonsynonymous SNV	exon4	c.G310A	p.E104K	SKAVGYLTGDMKEYRIWLKDKHLAL	SKAVGYLTGDMKKYRIWLKDKHLAL	3.0	5.0	unscreened	-	3881_18:43205807-43205807 G>A_SKAVGYLTGDMKKYRIWLKDKHLAL
12:7548813-7548813 C>T	0.0	3881	MELANOMA	-	-	ID=COSM139943;OCCURENCE=1(skin)	-	CD163L1	NM_174941,p.G643E|uc001qsy.3,p.G643E|NM_001297650,p.G653E|uc010sge.2,p.G653E|ENST00000416109,p.G653E|ENST00000396630,p.G643E|ENST00000313599,p.G643E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sge.2	nonsynonymous SNV	exon8	c.G1958A	p.G653E	IGMGLGNASTGYGKIWLDDVSCDGD	IGMGLGNASTGYEKIWLDDVSCDGD	4.0	3.0	unscreened	-	3881_12:7548813-7548813 C>T_IGMGLGNASTGYEKIWLDDVSCDGD
X:73962941-73962941 C>T	0.0	3881	MELANOMA	-	-	-	-	KIAA2022	NM_001008537,p.R484K|uc004eby.3,p.R484K|ENST00000373468,p.R484K|ENST00000055682,p.R484K	protein_coding	uc004eby.3	nonsynonymous SNV	exon3	c.G1451A	p.R484K	SSSQQNYGLRAKRKVRYSEDYLYDV	SSSQQNYGLRAKKKVRYSEDYLYDV	1.0	3.0	unscreened	-	3881_X:73962941-73962941 C>T_SSSQQNYGLRAKKKVRYSEDYLYDV
22:36124922-36124922 G>A	0.0	3881	MELANOMA	-	-	-	-	APOL5	NM_030642,p.A427T|ENST00000249044,p.A427T|uc003aof.3,p.A427T	protein_coding	uc003aof.3	nonsynonymous SNV	exon4	c.G1279A	p.A427T	PAPPAPARKGRQAPGRHRQ	PAPPAPARKGRQTPGRHRQ	1.0	6.0	unscreened	-	3881_22:36124922-36124922 G>A_PAPPAPARKGRQTPGRHRQ
5:19520779-19520779 G>A	0.0	3881	MELANOMA	-	-	-	-	CDH18	uc003jgc.3,p.S500F|NM_001291956,p.S500F|NM_001167667,p.S500F|ENST00000511273,p.S500F|uc003jgd.3,p.S500F|NM_001291957,p.S500F|ENST00000507958,p.S500F|uc011cnm.2,p.S500F|ENST00000382275,p.S500F|uc021xwu.1,p.S500F|ENST00000506372,p.S500F|ENST00000274170,p.S500F|ENST00000502796,p.S500F|NM_004934,p.S500F	protein_coding, processed_transcript	uc021xwu.1	nonsynonymous SNV	exon10	c.C1499T	p.S500F	LAREYDIIVCENSKPGQVIHTISAT	LAREYDIIVCENFKPGQVIHTISAT	1.0	6.0	unscreened	-	3881_5:19520779-19520779 G>A_LAREYDIIVCENFKPGQVIHTISAT
X:107408239-107408239 G>A	0.0	3881	MELANOMA	-	-	-	-	COL4A6	uc004env.4,p.P1280S|ENST00000334504,p.P1280S|NM_001847,p.P1281S|NM_001287760,p.P1256S|uc010npk.3,p.P1256S|NM_001287759,p.P1256S|uc011msn.2,p.P1256S|NM_001287758,p.P1297S|ENST00000545689,p.P1256S|NM_033641,p.P1280S|ENST00000538570,p.P1256S|ENST00000372216,p.P1281S|ENST00000394872,p.P1281S|uc004enw.4,p.P1281S	retained_intron, protein_coding, processed_transcript	uc011msn.2	nonsynonymous SNV	exon38	c.C3766T	p.P1256S	ERGRPGPAGPPGPPGPSSNQGDTGD	ERGRPGPAGPPGSPGPSSNQGDTGD	3.0	5.0	unscreened	-	3881_X:107408239-107408239 G>A_ERGRPGPAGPPGSPGPSSNQGDTGD
7:131910981-131910981 C>T	0.0	3881	MELANOMA	-	-	-	-	PLXNA4	ENST00000359827,p.E641K|uc003vra.4,p.E641K|ENST00000321063,p.E641K|NM_020911,p.E641K	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon8	c.G1921A	p.E641K	DHHVVQLQLKSKETGMTFASTSFVF	DHHVVQLQLKSKKTGMTFASTSFVF	2.0	4.0	unscreened	-	3881_7:131910981-131910981 C>T_DHHVVQLQLKSKKTGMTFASTSFVF
X:138724661-138724661 G>A	0.0	3881	MELANOMA	-	-	-	-	MCF2	NM_001171877,p.P6L|NM_001171878,p.P6L|uc004fav.3,p.P6L|ENST00000370573,p.P6L|ENST00000370576,p.P6L|ENST00000338585,p.P6L|NM_001171879,p.P6L|NM_005369,p.P6L|ENST00000536274,p.P6L|uc011mwm.2,p.P6L|uc011mwl.2,p.P6L|uc004fau.3,p.P6L|uc010nsh.2,p.P6L	protein_coding, processed_transcript	uc011mwm.2	nonsynonymous SNV	exon1	c.C17T	p.P6L	MAEANPRRGKMRFRRNAA	MAEANLRRGKMRFRRNAA	1.0	4.0	unscreened	-	3881_X:138724661-138724661 G>A_MAEANLRRGKMRFRRNAA
1:78601404-78601404 G>A	0.0	3881	MELANOMA	-	-	-	-	GIPC2	uc001dik.3,p.D309N|NM_017655,p.D309N|ENST00000370759,p.D309N	protein_coding, processed_transcript	uc001dik.3	nonsynonymous SNV	exon6	c.G925A	p.D309N	DEFVFDVWGVIGDAKRRGL	DEFVFDVWGVIGNAKRRGL	2.0	6.0	unscreened	-	3881_1:78601404-78601404 G>A_DEFVFDVWGVIGNAKRRGL
16:78056612-78056612 G>A	0.0	3881	MELANOMA	-	-	-	-	CLEC3A	ENST00000567430,p.R39K	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000567430	nonsynonymous SNV	exon1	c.G116A	p.R39K	DQTTSHTSRLKARKHSKRRVRGIC	DQTTSHTSRLKAKKHSKRRVRGIC	1.0	7.0	unscreened	-	3881_16:78056612-78056612 G>A_DQTTSHTSRLKAKKHSKRRVRGIC
19:2254195-2254195 C>T	0.0	3881	MELANOMA	-	-	-	-	JSRP1	ENST00000300961,p.A85T|uc002lvj.2,p.A85T|ENST00000586471,p.A85T|NM_144616,p.A85T	protein_coding, processed_transcript	uc002lvj.2	nonsynonymous SNV	exon4	c.G253A	p.A85T	RGTPGTGKERLKAGASPRSVPARKK	RGTPGTGKERLKTGASPRSVPARKK	4.0	7.0	unscreened	-	3881_19:2254195-2254195 C>T_RGTPGTGKERLKTGASPRSVPARKK
16:20976334-20976334 C>T	0.0	3881	MELANOMA	-	-	-	-	DNAH3	ENST00000261383,p.E2958K|NM_017539,p.E2958K|uc010vbe.2,p.E2958K|uc010vbd.2,p.E393K	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon53	c.G8872A	p.E2958K	MNTKKKDLEENIEICSQKLVRAEKL	MNTKKKDLEENIKICSQKLVRAEKL	1.0	7.0	unscreened	-	3881_16:20976334-20976334 C>T_MNTKKKDLEENIKICSQKLVRAEKL
14:94942498-94942498 C>A	0.0	3881	MELANOMA	-	-	-	-	SERPINA9	uc001ydg.3,p.G32W|uc001ydi.1,p.G32W|ENST00000546329,p.G32W|NM_001284275,p.G32W	protein_coding, processed_transcript, nonsense_mediated_decay	uc001ydi.1	nonsynonymous SNV	exon1	c.G94T	p.G32W	KQVSGLTNHARTGQEKRNLQRLVLE	KQVSGLTNHARTWQEKRNLQRLVLE	1.0	6.0	unscreened	-	3881_14:94942498-94942498 C>A_KQVSGLTNHARTWQEKRNLQRLVLE
12:2695023-2695023 C>T	0.0	3881	MELANOMA	-	-	-	-	CACNA1C	uc001qkm.2,p.P828L|ENST00000399621,p.P828L|NM_001129834,p.P828L|uc001qkf.2,p.P828L|uc001qkg.2,p.P828L|uc001qkr.2,p.P828L|NM_001129842,p.P828L|uc001qkd.2,p.P828L|ENST00000399601,p.P828L|ENST00000480911,p.P828L|ENST00000399597,p.P828L|ENST00000399606,p.P828L|ENST00000347598,p.P828L|ENST00000399634,p.P828L|ENST00000399629,p.P828L|uc001qjz.2,p.P828L|NM_001129829,p.P828L|NM_001129844,p.P825L|ENST00000399644,p.P828L|uc001qkh.2,p.P828L|uc001qkt.2,p.P828L|uc009zdw.1,p.P828L|uc001qki.1,p.P564L|uc001qka.1,p.P363L|uc001qks.2,p.P828L|ENST00000406454,p.P828L|NM_001167623,p.P828L|ENST00000335762,p.P853L|uc001qku.2,p.P828L|ENST00000399638,p.P828L|uc001qko.2,p.P828L|NM_001129836,p.P828L|uc001qke.2,p.P828L|uc001qkp.2,p.P828L|NM_001129843,p.P828L|NM_001129830,p.P828L|NM_001167624,p.P828L|ENST00000327702,p.P828L|NM_001129840,p.P828L|uc001qkk.2,p.P828L|uc001qkj.2,p.P828L|ENST00000399649,p.P828L|uc009zdv.1,p.P825L|uc001qkb.2,p.P828L|ENST00000399641,p.P828L|ENST00000399591,p.P828L|NM_001129835,p.P828L|NM_000719,p.P828L|ENST00000399637,p.P828L|ENST00000399595,p.P828L|NM_001129832,p.P828L|NM_001129838,p.P828L|ENST00000399655,p.P828L|uc009zdu.1,p.P828L|uc001qkn.2,p.P828L|NM_001129831,p.P828L|ENST00000344100,p.P828L|uc001qkc.2,p.P828L|NM_001129841,p.P828L|NM_001129837,p.P828L|NM_001129827,p.P828L|ENST00000402845,p.P828L|NM_199460,p.P828L|NM_001129839,p.P828L|ENST00000399603,p.P828L|uc001qkl.2,p.P828L|ENST00000399617,p.P828L|NM_001129846,p.P828L|uc001qkq.2,p.P828L|NM_001129833,p.P828L|NM_001167625,p.P828L	retained_intron, protein_coding, processed_transcript	uc009zdw.1	nonsynonymous SNV	exon18	c.C2483T	p.P828L	PPATKINMDDLQPNENEDKSPYPNP	PPATKINMDDLQLNENEDKSPYPNP	3.0	3.0	unscreened	-	3881_12:2695023-2695023 C>T_PPATKINMDDLQLNENEDKSPYPNP
2:228104905-228104905 G>A	0.0	3881	MELANOMA	-	-	-	-	COL4A3	NM_000091,p.G64E|uc002vom.2,p.G64E|ENST00000396578,p.G64E	retained_intron, protein_coding, processed_transcript	uc002vom.2	nonsynonymous SNV	exon3	c.G191A	p.G64E	GFPGPPGSPGQKGFTGPEGLPGPQG	GFPGPPGSPGQKEFTGPEGLPGPQG	3.0	4.0	unscreened	-	3881_2:228104905-228104905 G>A_GFPGPPGSPGQKEFTGPEGLPGPQG
2:173852938-173852938 G>A	0.0	3881	MELANOMA	-	-	-	-	RAPGEF4	ENST00000409036,p.E389K|uc010zeg.1,p.E216K|uc010fqo.2,p.E218K|uc010zeh.1,p.E169K|ENST00000397087,p.E245K|ENST00000540783,p.E236K|uc010zec.1,p.E236K|uc002uhw.4,p.E245K|uc010zee.1,p.E236K|uc002uhv.4,p.E389K|NM_001282900,p.E218K|ENST00000397081,p.E389K|ENST00000538974,p.E218K|uc010zed.1,p.E218K|NM_007023,p.E389K|uc010fqp.1,p.E169K|NM_001100397,p.E245K|uc010zef.1,p.E169K|ENST00000264111,p.E388K|NM_001282901,p.E169K|NM_001282899,p.E236K|ENST00000535187,p.E169K|ENST00000539331,p.E236K	retained_intron, protein_coding, processed_transcript	uc010zeh.1	nonsynonymous SNV	exon7	c.G505A	p.E169K	HAKGGTVLFNQGEEGTSWYIILKGS	HAKGGTVLFNQGKEGTSWYIILKGS	4.0	5.0	unscreened	-	3881_2:173852938-173852938 G>A_HAKGGTVLFNQGKEGTSWYIILKGS
18:59206262-59206262 C>T	0.0	3881	MELANOMA	-	-	-	-	CDH20	ENST00000262717,p.P472S|NM_031891,p.P472S|uc002lif.2,p.P466S|uc010dps.1,p.P472S|ENST00000536675,p.P472S|ENST00000538374,p.P472S	protein_coding	uc010dps.1	nonsynonymous SNV	exon8	c.C1414T	p.P472S	HNITVLAMEMNNPSQVGSVPVTIKV	HNITVLAMEMNNSSQVGSVPVTIKV	1.0	7.0	unscreened	-	3881_18:59206262-59206262 C>T_HNITVLAMEMNNSSQVGSVPVTIKV
17:10302180-10302180 C>T	0.0	3881	MELANOMA	-	-	-	-	MYH8	NM_002472,p.E1296K|ENST00000403437,p.E1296K|uc002gmm.2,p.E1296K	protein_coding	uc002gmm.2	nonsynonymous SNV	exon29	c.G3886A	p.E1296K	QTEAGEYSRQLDEKDALVSQLSRSK	QTEAGEYSRQLDKKDALVSQLSRSK	1.0	7.0	unscreened	-	3881_17:10302180-10302180 C>T_QTEAGEYSRQLDKKDALVSQLSRSK
X:153596363-153596363 C>T	0.0	3881	MELANOMA	-	-	-	2	FLNA	ENST00000344736,p.E157K|NM_001456,p.E157K|ENST00000420627,p.E143K|ENST00000369850,p.E157K|NM_001110556,p.E157K|uc004fkk.2,p.E157K|uc010nuu.1,p.E157K|ENST00000422373,p.E157K|ENST00000360319,p.E157K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nuu.1	nonsynonymous SNV	exon3	c.G469A	p.E157K	ILHYSISMPMWDEEEDEEAKKQTPK	ILHYSISMPMWDKEEDEEAKKQTPK	10.0	6.0	unscreened	-	3881_X:153596363-153596363 C>T_ILHYSISMPMWDKEEDEEAKKQTPK
13:58299357-58299357 G>A	0.0	3881	MELANOMA	-	-	-	-	PCDH17	NM_001040429,p.E1137K|ENST00000377918,p.E1137K|uc001vhq.1,p.E1137K|uc001vhr.1,p.E226K|uc010aec.1,p.E1136K	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon4	c.G3406A	p.E1136K	NRDLGRESVDAEEVVREIDKLLQDC	NRDLGRESVDAEKVVREIDKLLQDC	5.0	5.0	unscreened	-	3881_13:58299357-58299357 G>A_NRDLGRESVDAEKVVREIDKLLQDC
14:24839536-24839536 C>T	0.0	3881	MELANOMA	-	-	-	-	NFATC4	NM_001288802,p.S299F|uc010tou.2,p.S241F|NM_001136022,p.S374F|ENST00000539237,p.S343F|ENST00000556279,p.S343F|uc001wpc.3,p.S311F|ENST00000554661,p.S241F|ENST00000422617,p.S299F|uc010too.2,p.S324F|NM_004554,p.S311F|uc010als.2,p.S324F|uc010top.2,p.S343F|ENST00000424781,p.S324F|ENST00000557451,p.S241F|uc010alv.3,p.S299F|ENST00000554344,p.S241F|ENST00000413692,p.S374F|uc010tov.2,p.S299F|uc010tor.2,p.S311F|uc010ton.2,p.S324F|ENST00000555590,p.S324F|ENST00000556169,p.S299F|ENST00000553879,p.S241F|ENST00000554050,p.S311F|uc010alt.3,p.S343F|ENST00000553469,p.S343F|uc010tok.2,p.S374F|ENST00000555453,p.S299F|uc010tos.2,p.S241F|uc010tot.2,p.S299F|uc010alr.3,p.S374F|uc010tom.2,p.S324F|NM_001198966,p.S241F|ENST00000554591,p.S374F|ENST00000250373,p.S311F|NM_001198967,p.S374F|uc010tol.2,p.S374F|uc010tox.2,p.S241F|ENST00000554966,p.S324F|ENST00000553708,p.S311F|uc010tow.2,p.S241F|uc010toq.2,p.S343F|NM_001198965,p.S311F	retained_intron, protein_coding, processed_transcript	uc010tox.2	nonsynonymous SNV	exon1	c.C722T	p.S241F	PPPPLPLARDPGSPGPFDYVGAPPA	PPPPLPLARDPGFPGPFDYVGAPPA	4.0	5.0	unscreened	-	3881_14:24839536-24839536 C>T_PPPPLPLARDPGFPGPFDYVGAPPA
2:98844692-98844692 G>A	0.0	3881	MELANOMA	-	-	-	-	VWA3B	uc002syo.3,p.E683K|uc002sym.3,p.E683K|ENST00000477737,p.E683K|uc010yvi.1,p.E340K|uc002syp.1,p.E75K|NM_144992,p.E683K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yvi.1	nonsynonymous SNV	exon9	c.G1018A	p.E340K	AVQNEDLTLLVKEMEQGHSDLEKMQ	AVQNEDLTLLVKKMEQGHSDLEKMQ	2.0	5.0	unscreened	-	3881_2:98844692-98844692 G>A_AVQNEDLTLLVKKMEQGHSDLEKMQ
19:10084296-10084296 C>T	0.0	3881	MELANOMA	-	-	-	-	COL5A3	uc002mmq.1,p.E1206K|ENST00000264828,p.E1206K|NM_015719,p.E1206K	retained_intron, protein_coding	uc002mmq.1	nonsynonymous SNV	exon50	c.G3616A	p.E1206K	GVGQPGAVGEKGERGDAGDPGPPGA	GVGQPGAVGEKGKRGDAGDPGPPGA	5.0	3.0	unscreened	-	3881_19:10084296-10084296 C>T_GVGQPGAVGEKGKRGDAGDPGPPGA
2:179658264-179658264 C>T	0.0	3881	MELANOMA	-	-	-	-	TTN	NM_001256850,p.R468K|NM_133437,p.R468K|ENST00000460472,p.R468K|ENST00000342992,p.R468K|uc031rqd.1,p.R468K|NM_003319,p.R468K|uc021vta.2,p.R468K|uc021vsz.2,p.R468K|ENST00000589042,p.R468K|ENST00000359218,p.R468K|ENST00000591111,p.R468K|NM_133432,p.R468K|NM_133378,p.R468K|uc031rqc.1,p.R468K|uc010frg.1,p.R142K|uc002unb.3,p.R468K|ENST00000360870,p.R468K|ENST00000436599,p.R64K|uc021vsy.2,p.R468K|ENST00000342175,p.R468K|uc021vtb.2,p.R468K|NM_001267550,p.R468K|NM_133379,p.R468K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon9	c.G1403A	p.R468K	TAVHIQPAQEQVRKEAEKTAVTKVV	TAVHIQPAQEQVKKEAEKTAVTKVV	2.0	7.0	unscreened	-	3881_2:179658264-179658264 C>T_TAVHIQPAQEQVKKEAEKTAVTKVV
2:168102943-168102943 G>A	0.0	3881	MELANOMA	-	-	-	-	XIRP2	NM_001199144,p.E1459K|uc010fpq.3,p.E1459K|ENST00000409273,p.E1459K|ENST00000409195,p.E1681K|uc002udx.3,p.E1681K|uc002udy.3,p.E1506K|ENST00000295237,p.E1681K|NM_152381,p.E1681K	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G4375A	p.E1459K	EERSVKKGILIQEDEKGDINMTIYC	EERSVKKGILIQKDEKGDINMTIYC	1.0	7.0	unscreened	-	3881_2:168102943-168102943 G>A_EERSVKKGILIQKDEKGDINMTIYC
19:54783382-54783382 C>T	0.0	3881	MELANOMA	-	-	-	-	LILRB2	NM_001080978,p.G159E|NM_005874,p.G159E|NM_001278404,p.G43E|NM_001278406,p.G159E|NM_001278405,p.G159E|NM_001278403,p.G159E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_005874	nonsynonymous SNV	exon5	c.G476A	p.G159E	QVAFGGFILCKEGEDEHPQCLNSQP	QVAFGGFILCKEEEDEHPQCLNSQP	6.0	7.0	unscreened	-	3881_19:54783382-54783382 C>T_QVAFGGFILCKEEEDEHPQCLNSQP
19:54783382-54783382 C>T	0.0	3881	MELANOMA	-	-	-	-	LILRB2	ENST00000314446,p.G159E|uc010yet.2,p.G43E|uc010eri.3,p.G159E|uc002qfc.3,p.G159E|ENST00000434421,p.G43E|ENST00000391749,p.G159E|ENST00000391746,p.G159E|ENST00000391748,p.G159E|uc002qfb.3,p.G159E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yet.2	nonsynonymous SNV	exon4	c.G128A	p.G43E	QVAFGGFILCKEGEEEHPQCLNSQP	QVAFGGFILCKEEEEEHPQCLNSQP	6.0	7.0	unscreened	-	3881_19:54783382-54783382 C>T_QVAFGGFILCKEEEEEHPQCLNSQP
2:189925472-189925472 C>T	0.0	3881	MELANOMA	-	-	-	-	COL5A2	uc010frx.3,p.G266E|ENST00000374866,p.G690E|uc002uqk.3,p.G690E|NM_000393,p.G690E	retained_intron, protein_coding	uc010frx.3	nonsynonymous SNV	exon15	c.G797A	p.G266E	GLPGPPGPPGEGGKPGDQGVPGDPG	GLPGPPGPPGEGEKPGDQGVPGDPG	8.0	7.0	unscreened	-	3881_2:189925472-189925472 C>T_GLPGPPGPPGEGEKPGDQGVPGDPG
11:56113517-56113517 G>A	0.0	3881	MELANOMA	-	-	-	-	OR8K1	uc010rjg.2,p.M1I|NM_001002907,p.M1I|ENST00000279783,p.M1I	protein_coding	uc010rjg.2	nonsynonymous SNV	exon1	c.G3A	p.M1I	MNHVVKHNHTAVT	INHVVKHNHTAVT	1.0	7.0	unscreened	-	3881_11:56113517-56113517 G>A_INHVVKHNHTAVT
8:70591784-70591784 C>T	0.0	3881	MELANOMA	-	-	-	-	SLCO5A1	NM_001146008,p.R618Q|uc003xyk.3,p.R618Q|ENST00000524945,p.R618Q|NM_001146009,p.R563Q|NM_030958,p.R618Q|uc010lzb.3,p.R563Q|ENST00000530307,p.R563Q|uc003xyl.3,p.R618Q|ENST00000260126,p.R618Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lzb.3	nonsynonymous SNV	exon6	c.G1688A	p.R563Q	SRQVITPPTVGQRSQLRVVIVKTYL	SRQVITPPTVGQQSQLRVVIVKTYL	3.0	4.0	unscreened	-	3881_8:70591784-70591784 C>T_SRQVITPPTVGQQSQLRVVIVKTYL
1:190195325-190195325 C>T	0.0	3881	MELANOMA	-	-	-	-	BRINP3	uc010pot.1,p.G181D|NM_199051,p.G283D|uc001gse.1,p.G283D|ENST00000367462,p.G283D|ENST00000534846,p.G181D	protein_coding, processed_transcript	uc010pot.1	nonsynonymous SNV	exon5	c.G542A	p.G181D	FICKENDCWCHCGPKFPECNCPSMD	FICKENDCWCHCDPKFPECNCPSMD	1.0	6.0	unscreened	-	3881_1:190195325-190195325 C>T_FICKENDCWCHCDPKFPECNCPSMD
19:50957361-50957361 G>A	0.0	3881	MELANOMA	-	-	-	-	MYBPC2	ENST00000357701,p.D612N|NM_004533,p.D612N|uc002psf.2,p.D612N	retained_intron, protein_coding	uc002psf.2	nonsynonymous SNV	exon17	c.G1834A	p.D612N	CSSFVIESAQREDEGRYTIKVTNPV	CSSFVIESAQRENEGRYTIKVTNPV	1.0	5.0	unscreened	-	3881_19:50957361-50957361 G>A_CSSFVIESAQRENEGRYTIKVTNPV
2:79313958-79313958 C>T	0.0	3881	MELANOMA	-	-	-	-	REG1B	NM_006507,p.E55K|ENST00000305089,p.E55K|uc002sny.2,p.E55K|uc010ffv.1,p.E55K	retained_intron, protein_coding	uc010ffv.1	nonsynonymous SNV	exon3	c.G163A	p.E55K	YRSYCYYFNEDPETWVDADLYCQNM	YRSYCYYFNEDPKTWVDADLYCQNM	1.0	6.0	unscreened	-	3881_2:79313958-79313958 C>T_YRSYCYYFNEDPKTWVDADLYCQNM
X:151303081-151303081 C>T	0.0	3881	MELANOMA	-	-	-	-	MAGEA10	uc004ffl.3,p.E338K|uc004ffk.3,p.E338K|uc022cgz.1,p.E338K|NM_001011543,p.E338K|uc004ffm.2,p.E338K|ENST00000244096,p.E338K|NM_001251828,p.E338K|NM_021048,p.E338K|ENST00000370323,p.E338K	protein_coding	uc022cgz.1	nonsynonymous SNV	exon1	c.G1012A	p.E338K	FPLWYEEALKDEEERAQDRIATTDD	FPLWYEEALKDEKERAQDRIATTDD	2.0	7.0	unscreened	-	3881_X:151303081-151303081 C>T_FPLWYEEALKDEKERAQDRIATTDD
X:111019564-111019564 C>T	0.0	3881	MELANOMA	-	-	-	-	TRPC5	NM_012471,p.E967K|ENST00000262839,p.E967K|uc004epl.1,p.E967K	protein_coding	uc004epl.1	nonsynonymous SNV	exon11	c.G2899A	p.E967K	DLLMHKWGDGQEEQVTTRL	DLLMHKWGDGQEKQVTTRL	1.0	4.0	unscreened	-	3881_X:111019564-111019564 C>T_DLLMHKWGDGQEKQVTTRL
16:3304275-3304275 C>T	0.0	3881	MELANOMA	-	-	-	-	MEFV	uc002cun.1,p.E265K|ENST00000570511,p.E265K|ENST00000537682,p.E265K|NM_000243,p.E265K|ENST00000538326,p.E265K|ENST00000219596,p.E265K|ENST00000542898,p.E265K	retained_intron, protein_coding, nonsense_mediated_decay	uc002cun.1	nonsynonymous SNV	exon2	c.G793A	p.E265K	APANPEILLTLEEKTAANLDSATEP	APANPEILLTLEKKTAANLDSATEP	3.0	4.0	unscreened	-	3881_16:3304275-3304275 C>T_APANPEILLTLEKKTAANLDSATEP
17:61621699-61621699 C>T	0.0	3881	MELANOMA	-	-	-	-	KCNH6	NM_173092,p.P722S|NM_030779,p.P811S|uc002jay.3,p.P811S|uc010wpm.2,p.P775S|ENST00000456941,p.P722S|NM_001278920,p.P652S|ENST00000583023,p.P811S|uc010wpl.2,p.P652S|NM_001278919,p.P775S|ENST00000314672,p.P775S|uc002jaz.1,p.P722S|ENST00000581784,p.P722S	protein_coding, nonsense_mediated_decay	uc010wpm.2	nonsynonymous SNV	exon11	c.C2323T	p.P775S	LQEMPPRHSPQSPQEDPDCWPLKLG	LQEMPPRHSPQSSQEDPDCWPLKLG	1.0	6.0	unscreened	-	3881_17:61621699-61621699 C>T_LQEMPPRHSPQSSQEDPDCWPLKLG
17:15501935-15501935 C>T	0.0	3881	MELANOMA	-	-	ID=COSM975756,COSM975757;OCCURENCE=1(endometrium)	-	CDRT1	NM_001282540,p.R489Q|uc002gou.2,p.R97Q|NM_006382,p.R489Q|ENST00000455584,p.R799Q|uc002gov.4,p.R489Q|uc002gor.1,p.R799Q|ENST00000395906,p.R489Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002gov.4	nonsynonymous SNV	exon8	c.G1466A	p.R489Q	IRYWDLKSGVCTRIFGGHQGTITCM	IRYWDLKSGVCTQIFGGHQGTITCM	4.0	6.0	unscreened	-	3881_17:15501935-15501935 C>T_IRYWDLKSGVCTQIFGGHQGTITCM
12:7280977-7280977 C>T	0.0	3881	MELANOMA	-	-	-	-	RBP5	ENST00000543045,p.E42K	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000543045	nonsynonymous SNV	exon2	c.G124A	p.E42K	HQLGCAEDRAAAEAGQGDRTPGQPH	HQLGCAEDRAAAKAGQGDRTPGQPH	4.0	4.0	unscreened	-	3881_12:7280977-7280977 C>T_HQLGCAEDRAAAKAGQGDRTPGQPH
16:21031159-21031159 C>T	0.0	3881	MELANOMA	-	-	-	-	DNAH3	NM_017539,p.E1937K|uc010vbe.2,p.E1937K|ENST00000261383,p.E1937K	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon41	c.G5809A	p.E1937K	LDEIRAVEEEEMELGEGLSSQQIFL	LDEIRAVEEEEMKLGEGLSSQQIFL	1.0	5.0	unscreened	-	3881_16:21031159-21031159 C>T_LDEIRAVEEEEMKLGEGLSSQQIFL
14:42356597-42356597 G>A	0.0	3881	MELANOMA	-	-	-	-	LRFN5	uc010ana.3,p.E257K|ENST00000298119,p.E257K|NM_152447,p.E257K|ENST00000554171,p.E257K|ENST00000554120,p.E257K|uc001wvm.3,p.E257K	protein_coding, processed_transcript	uc010ana.3	nonsynonymous SNV	exon5	c.G769A	p.E257K	NCELLWLRRLSREDDLETCASPPLL	NCELLWLRRLSRKDDLETCASPPLL	4.0	5.0	unscreened	-	3881_14:42356597-42356597 G>A_NCELLWLRRLSRKDDLETCASPPLL
17:37898666-37898666 G>A	0.0	3881	MELANOMA	-	-	-	-	GRB7	uc002hsr.3,p.E38K|ENST00000394209,p.E38K|NM_001242442,p.E61K|NM_001030002,p.E38K|uc021twu.1,p.E61K|ENST00000394204,p.E38K|ENST00000577695,p.E38K|uc002hss.3,p.E38K|NM_005310,p.E38K|ENST00000394211,p.E38K|ENST00000309156,p.E38K|ENST00000445327,p.E61K|uc002hst.3,p.E38K|NM_001242443,p.E38K|ENST00000309185,p.E38K|uc010cwc.3,p.E38K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021twu.1	nonsynonymous SNV	exon2	c.G181A	p.E61K	GTPRPPDTPLPEEVKRSQPLLIPTT	GTPRPPDTPLPEKVKRSQPLLIPTT	1.0	5.0	unscreened	-	3881_17:37898666-37898666 G>A_GTPRPPDTPLPEKVKRSQPLLIPTT
16:20634840-20634840 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1708857,COSM1708856;OCCURENCE=1(skin)	-	ACSM1	ENST00000520010,p.E568K|ENST00000307493,p.E568K|uc002dhm.1,p.E568K|NM_052956,p.E568K|ENST00000219151,p.E219K|uc010bwg.1,p.E568K	retained_intron, protein_coding, nonsense_mediated_decay	uc010bwg.1	nonsynonymous SNV	exon14	c.G1702A	p.E568K	LPKTITGKIERKELRKKETGQM	LPKTITGKIERKKLRKKETGQM	1.0	6.0	unscreened	-	3881_16:20634840-20634840 C>T_LPKTITGKIERKKLRKKETGQM
14:24769878-24769878 G>A	1.0	3881	MELANOMA	-	-	-	-	NOP9	ENST00000267425,p.G171E|ENST00000396802,p.G171E|NM_001286367,p.G171E|NM_174913,p.G171E|uc001wol.1,p.G171E	protein_coding	uc001wol.1	nonsynonymous SNV	exon2	c.G512A	p.G171E	SAAEEEEEEEEDGKDGPTETLEELV	SAAEEEEEEEEDEKDGPTETLEELV	7.0	5.0	unscreened	-	3881_14:24769878-24769878 G>A_SAAEEEEEEEEDEKDGPTETLEELV
5:55407104-55407104 C>T	0.0	3881	MELANOMA	-	-	ID=COSM231759;OCCURENCE=1(lung),1(skin)	-	ANKRD55	ENST00000434982,p.D203N|ENST00000504958,p.D448N|uc003jqt.3,p.D203N|uc003jqu.3,p.D491N|ENST00000341048,p.D491N|NM_024669,p.D491N	protein_coding, processed_transcript	uc003jqu.3	nonsynonymous SNV	exon10	c.G1471A	p.D491N	LLNNRTGCQMLLDNPWKSDSNQVFS	LLNNRTGCQMLLNNPWKSDSNQVFS	2.0	7.0	unscreened	-	3881_5:55407104-55407104 C>T_LLNNRTGCQMLLNNPWKSDSNQVFS
1:32265706-32265706 C>T	0.0	3881	MELANOMA	-	-	-	-	SPOCD1	uc001bts.1,p.D547N|NM_001281987,p.D547N|NM_144569,p.D547N|ENST00000528791,p.D40N|NM_001281988,p.D40N|ENST00000373648,p.D488N|ENST00000533231,p.D547N|uc001btv.3,p.D40N|ENST00000360482,p.D547N|ENST00000257100,p.D40N|uc001btu.3,p.D547N	retained_intron, protein_coding	uc001btv.3	nonsynonymous SNV	exon4	c.G118A	p.D40N	VFQPSPSGGTAGDPGGLSDPFYPPR	VFQPSPSGGTAGNPGGLSDPFYPPR	3.0	4.0	unscreened	-	3881_1:32265706-32265706 C>T_VFQPSPSGGTAGNPGGLSDPFYPPR
14:23884417-23884417 C>T	0.0	3881	MELANOMA	-	-	-	-	MYH7	uc001wjx.3,p.M1782I|NM_000257,p.M1782I|ENST00000355349,p.M1782I	protein_coding	uc001wjx.3	nonsynonymous SNV	exon37	c.G5346A	p.M1782I	KKEQDTSAHLERMKKNMEQTIKDLQ	KKEQDTSAHLERIKKNMEQTIKDLQ	1.0	7.0	unscreened	-	3881_14:23884417-23884417 C>T_KKEQDTSAHLERIKKNMEQTIKDLQ
16:78056612-78056612 G>A	0.0	3881	MELANOMA	-	-	-	-	CLEC3A	ENST00000299642,p.R39K|ENST00000575655,p.R30K|NM_005752,p.R39K|uc002ffh.5,p.R39K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ffh.5	nonsynonymous SNV	exon1	c.G116A	p.R39K	DQTTSHTSRLKARKHSKRRVRDKDG	DQTTSHTSRLKAKKHSKRRVRDKDG	1.0	7.0	unscreened	-	3881_16:78056612-78056612 G>A_DQTTSHTSRLKAKKHSKRRVRDKDG
1:34033229-34033229 C>T	0.0	3881	MELANOMA	-	-	-	-	CSMD2	NM_001281956,p.D2782N|uc001bxm.1,p.D2782N|ENST00000373381,p.D2782N	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxm.1	nonsynonymous SNV	exon53	c.G8344A	p.D2782N	RLIGMSVRICQQDHHWSGKTPFCVP	RLIGMSVRICQQNHHWSGKTPFCVP	3.0	6.0	unscreened	-	3881_1:34033229-34033229 C>T_RLIGMSVRICQQNHHWSGKTPFCVP
11:55798780-55798780 G>A	0.0	3881	MELANOMA	-	-	-	-	OR5AS1	NM_001001921,p.D296N|uc010riw.2,p.D296N|ENST00000313555,p.D296N	protein_coding	uc010riw.2	nonsynonymous SNV	exon1	c.G886A	p.D296N	MFNPIIYSFRNKDVKNALKKLLERI	MFNPIIYSFRNKNVKNALKKLLERI	1.0	6.0	unscreened	-	3881_11:55798780-55798780 G>A_MFNPIIYSFRNKNVKNALKKLLERI
8:139164649-139164649 C>T	0.0	3881	MELANOMA	-	-	-	2	FAM135B	uc003yux.3,p.S591N|ENST00000395297,p.S690N|NM_015912,p.S690N|uc003yuy.3,p.S690N|ENST00000276737,p.S690N|uc003yva.3,p.S252N|uc003yvb.3,p.S252N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yvb.3	nonsynonymous SNV	exon1	c.G755A	p.S252N	RSSSIISDSGIESEPSSVAWSEARS	RSSSIISDSGIENEPSSVAWSEARS	1.0	6.0	unscreened	-	3881_8:139164649-139164649 C>T_RSSSIISDSGIENEPSSVAWSEARS
5:80382676-80382676 G>A	0.0	3881	MELANOMA	-	-	-	-	RASGRF2	ENST00000265080,p.D432N|ENST00000503795,p.D432N|NM_006909,p.D432N|uc003khb.1,p.D260N|uc003kha.2,p.D432N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003khb.1	nonsynonymous SNV	exon6	c.G778A	p.D260N	EELSRVMHDEVSDTENIRKNLAIER	EELSRVMHDEVSNTENIRKNLAIER	4.0	4.0	unscreened	-	3881_5:80382676-80382676 G>A_EELSRVMHDEVSNTENIRKNLAIER
8:131826408-131826408 C>T	0.0	3881	MELANOMA	-	-	-	-	ADCY8	uc003ytd.4,p.M940I|uc010mds.3,p.M809I|NM_001115,p.M940I|ENST00000377928,p.M809I|ENST00000286355,p.M940I	protein_coding	uc010mds.3	nonsynonymous SNV	exon11	c.G2427A	p.M809I	LWRVQAKEEINEMKELREHNENMLR	LWRVQAKEEINEIKELREHNENMLR	1.0	5.0	unscreened	-	3881_8:131826408-131826408 C>T_LWRVQAKEEINEIKELREHNENMLR
11:20177801-20177801 C>T	0.0	3881	MELANOMA	-	-	-	-	DBX1	uc021qez.1,p.E369K|uc021qey.1,p.E331K|ENST00000524983,p.E331K|ENST00000227256,p.E370K|NM_001029865,p.E331K	protein_coding	uc021qez.1	nonsynonymous SNV	exon4	c.G1105A	p.E369K	PGKPSDFSDSEEEEEGEEQEEITVS	PGKPSDFSDSEEKEEGEEQEEITVS	1.0	7.0	unscreened	-	3881_11:20177801-20177801 C>T_PGKPSDFSDSEEKEEGEEQEEITVS
2:137917933-137917933 A>T	0.0	3881	MELANOMA	-	-	-	-	THSD7B	ENST00000272643,p.K507I|uc002tvb.3,p.K366I|ENST00000409968,p.K507I|uc002tva.1,p.K476I|ENST00000413152,p.K476I	retained_intron, protein_coding, processed_transcript	uc002tvb.3	nonsynonymous SNV	exon4	c.A1097T	p.K366I	LCIHENCHDPQGKKGFRTRQRHVLM	LCIHENCHDPQGIKGFRTRQRHVLM	1.0	6.0	unscreened	-	3881_2:137917933-137917933 A>T_LCIHENCHDPQGIKGFRTRQRHVLM
16:4242186-4242186 C>T	0.0	3881	MELANOMA	-	-	ID=COSM277479;OCCURENCE=1(large_intestine)	-	SRL	ENST00000537996,p.E422K|NM_001098814,p.E464K|uc002cvz.4,p.E464K|ENST00000399609,p.E464K	protein_coding, nonsense_mediated_decay	uc002cvz.4	nonsynonymous SNV	exon6	c.G1390A	p.E464K	PGALNCDKTGCSETPKNRYRKH	PGALNCDKTGCSKTPKNRYRKH	1.0	7.0	unscreened	-	3881_16:4242186-4242186 C>T_PGALNCDKTGCSKTPKNRYRKH
2:29296427-29296427 C>T	0.0	3881	MELANOMA	-	-	-	-	C2orf71	uc002rmt.2,p.G234E|ENST00000331664,p.G234E|NM_001029883,p.G234E	protein_coding	uc002rmt.2	nonsynonymous SNV	exon1	c.G701A	p.G234E	LLLCFEEISQLLGEISKDGEVLLQE	LLLCFEEISQLLEEISKDGEVLLQE	2.0	5.0	unscreened	-	3881_2:29296427-29296427 C>T_LLLCFEEISQLLEEISKDGEVLLQE
5:34954035-34954035 C>T	0.0	3881	MELANOMA	-	-	-	-	DNAJC21	ENST00000342382,p.P455S|ENST00000303525,p.P468S|ENST00000382021,p.P500S|uc003jjb.3,p.P500S|NM_001012339,p.P455S|uc003jjc.3,p.P455S|uc010iuu.1,p.P352S|NM_194283,p.P500S	retained_intron, protein_coding, processed_transcript	uc010iuu.1	nonsynonymous SNV	exon8	c.C1054T	p.P352S	PCDDPKSEAKSVPKPKGKKTKDMKK	PCDDPKSEAKSVSKPKGKKTKDMKK	9.0	7.0	unscreened	-	3881_5:34954035-34954035 C>T_PCDDPKSEAKSVSKPKGKKTKDMKK
16:20451727-20451727 G>A	0.0	3881	MELANOMA	-	-	-	-	ACSM5	ENST00000331849,p.R573Q|uc002dhe.3,p.R573Q|NM_017888,p.R573Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002dhe.3	nonsynonymous SNV	exon14	c.G1718A	p.R573Q	KTVSGKIQRSKLRSQEWGK	KTVSGKIQRSKLQSQEWGK	4.0	3.0	unscreened	-	3881_16:20451727-20451727 G>A_KTVSGKIQRSKLQSQEWGK
2:79313958-79313958 C>T	0.0	3881	MELANOMA	-	-	-	-	REG1B	uc010ffw.3,p.E55K	retained_intron, protein_coding	uc010ffw.3	nonsynonymous SNV	exon3	c.G163A	p.E55K	YRSYCYYFNEDPETWVDADVSEESS	YRSYCYYFNEDPKTWVDADVSEESS	1.0	6.0	unscreened	-	3881_2:79313958-79313958 C>T_YRSYCYYFNEDPKTWVDADVSEESS
8:70981534-70981534 C>T	0.0	3881	MELANOMA	-	-	-	-	PRDM14	ENST00000276594,p.E188K|NM_024504,p.E188K|uc003xym.3,p.E188K	protein_coding	uc003xym.3	nonsynonymous SNV	exon2	c.G562A	p.E188K	KQSEDGPKPSNQEGKSPARFQFTEE	KQSEDGPKPSNQKGKSPARFQFTEE	1.0	4.0	unscreened	-	3881_8:70981534-70981534 C>T_KQSEDGPKPSNQKGKSPARFQFTEE
X:152807014-152807014 G>T	0.0	3881	MELANOMA	-	-	-	1	ATP2B3	ENST00000359149,p.A136S|ENST00000263519,p.A136S|ENST00000370186,p.A136S|uc004fhs.1,p.A136S|ENST00000349466,p.A136S|NM_021949,p.A136S|ENST00000370181,p.A136S|uc004fht.1,p.A136S|NM_001001344,p.A136S|ENST00000393842,p.A136S	protein_coding, processed_transcript	uc004fht.1	nonsynonymous SNV	exon2	c.G406T	p.A136S	LSFYAPPGEESEACGNVSGGAEDEG	LSFYAPPGEESESCGNVSGGAEDEG	1.0	4.0	unscreened	-	3881_X:152807014-152807014 G>T_LSFYAPPGEESESCGNVSGGAEDEG
X:135429859-135429859 C>T	0.0	3881	MELANOMA	-	-	ID=COSM3721960;OCCURENCE=1(upper_aerodigestive_tract)	-	GPR112	ENST00000370652,p.P1332S|ENST00000287534,p.P1269S|ENST00000412101,p.P1127S|uc004ezu.1,p.P1332S|ENST00000394141,p.P1127S|NM_153834,p.P1332S|uc010nsc.1,p.P1099S|ENST00000394143,p.P1332S|uc010nsb.1,p.P1127S	protein_coding	uc010nsc.1	nonsynonymous SNV	exon1	c.C3295T	p.P1099S	LGTPSDGNLASSPTSGSTQITPTLT	LGTPSDGNLASSSTSGSTQITPTLT	1.0	4.0	unscreened	-	3881_X:135429859-135429859 C>T_LGTPSDGNLASSSTSGSTQITPTLT
4:100504592-100504592 G>A	0.0	3881	MELANOMA	-	-	-	-	MTTP	ENST00000511045,p.G131E|ENST00000265517,p.G104E|uc003hvb.3,p.G104E|ENST00000506883,p.G114E|ENST00000457717,p.G104E|ENST00000422897,p.G104E|NM_001300785,p.G131E|NM_000253,p.G104E|uc011cej.2,p.G131E|uc003hvc.4,p.G104E	protein_coding, nonsense_mediated_decay	uc011cej.2	nonsynonymous SNV	exon3	c.G392A	p.G131E	VNQQRGEKSIFKGKSPSKIMGKENL	VNQQRGEKSIFKEKSPSKIMGKENL	3.0	7.0	unscreened	-	3881_4:100504592-100504592 G>A_VNQQRGEKSIFKEKSPSKIMGKENL
2:182543365-182543365 C>T	0.0	3881	MELANOMA	-	-	-	-	NEUROD1	ENST00000295108,p.E75K|uc021vto.1,p.E75K|NM_002500,p.E75K|uc002uof.4,p.E75K	protein_coding, processed_transcript	uc021vto.1	nonsynonymous SNV	exon1	c.G223A	p.E75K	DEDLEEEEEEEEEDDDQKPKRRGPK	DEDLEEEEEEEEKDDDQKPKRRGPK	1.0	7.0	unscreened	-	3881_2:182543365-182543365 C>T_DEDLEEEEEEEEKDDDQKPKRRGPK
14:100563993-100563993 G>A	0.0	3881	MELANOMA	-	-	-	-	EVL	ENST00000554045,p.G119E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000554045	nonsynonymous SNV	exon3	c.G356A	p.G119E	MLFALNIMNSQEGDK	MLFALNIMNSQEEDK	9.0	6.0	unscreened	-	3881_14:100563993-100563993 G>A_MLFALNIMNSQEEDK
8:30704049-30704049 C>T	0.0	3881	MELANOMA	-	-	-	-	TEX15	NM_031271,p.E829K|ENST00000256246,p.E829K|uc003xil.3,p.E829K	protein_coding, processed_transcript	uc003xil.3	nonsynonymous SNV	exon1	c.G2485A	p.E829K	ILGFDIYSQPFGENADYPCEDKVDN	ILGFDIYSQPFGKNADYPCEDKVDN	1.0	5.0	unscreened	-	3881_8:30704049-30704049 C>T_ILGFDIYSQPFGKNADYPCEDKVDN
5:147051353-147051353 C>T	0.0	3881	MELANOMA	-	-	-	-	JAKMIP2	NM_001270934,p.R6Q|uc003loq.2,p.R6Q|uc003lor.2,p.R6Q|uc010jgo.2,p.R6Q|ENST00000507386,p.R6Q|NM_001270941,p.R6Q|NM_014790,p.R6Q|ENST00000265272,p.R6Q	retained_intron, protein_coding	uc010jgo.2	nonsynonymous SNV	exon2	c.G17A	p.R6Q	MSKKGRNKGEKPEALIVA	MSKKGQNKGEKPEALIVA	3.0	4.0	unscreened	-	3881_5:147051353-147051353 C>T_MSKKGQNKGEKPEALIVA
14:58060686-58060686 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC35F4	uc021rtp.1,p.G87E|NM_001206920,p.G87E	protein_coding, processed_transcript, nonsense_mediated_decay	uc021rtp.1	nonsynonymous SNV	exon2	c.G260A	p.G87E	LELQNQGSSGVCGHRVERQNRSDDG	LELQNQGSSGVCEHRVERQNRSDDG	1.0	4.0	unscreened	-	3881_14:58060686-58060686 C>T_LELQNQGSSGVCEHRVERQNRSDDG
14:58060686-58060686 C>T	0.0	3881	MELANOMA	-	-	-	-	SLC35F4	ENST00000556826,p.G87E|ENST00000339762,p.G123E	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000556826	nonsynonymous SNV	exon2	c.G260A	p.G87E	LELQNQGSSGVCGHRVERQNRSADD	LELQNQGSSGVCEHRVERQNRSADD	1.0	4.0	unscreened	-	3881_14:58060686-58060686 C>T_LELQNQGSSGVCEHRVERQNRSADD
17:37898666-37898666 G>A	0.0	3881	MELANOMA	-	-	-	-	GRB7	ENST00000583813,p.E38K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000583813	nonsynonymous SNV	exon2	c.G112A	p.E38K	GTPRPPDTPLPEEVCGGGSRCHSSP	GTPRPPDTPLPEKVCGGGSRCHSSP	1.0	5.0	unscreened	-	3881_17:37898666-37898666 G>A_GTPRPPDTPLPEKVCGGGSRCHSSP
7:143054020-143054020 C>T	0.0	3881	MELANOMA	0.0018	-	-	2	FAM131B	uc003wcu.4,p.D208N|ENST00000443739,p.D236N|NM_014690,p.D208N|NM_001278297,p.D142N|NM_001031690,p.D236N|ENST00000409346,p.D208N|uc010lpa.3,p.D236N|ENST00000409408,p.D208N|ENST00000409222,p.D208N|uc003wct.3,p.D208N|ENST00000409578,p.D224N|uc031szl.1,p.D142N|uc010loz.3,p.D176N	retained_intron, protein_coding, nonsense_mediated_decay	uc031szl.1	nonsynonymous SNV	exon6	c.G424A	p.D142N	YCLGSSDAWEASDQSLIASPATGSY	YCLGSSDAWEASNQSLIASPATGSY	1.0	6.0	unscreened	-	3881_7:143054020-143054020 C>T_YCLGSSDAWEASNQSLIASPATGSY
1:34033229-34033229 C>T	0.0	3881	MELANOMA	-	-	-	-	CSMD2	uc001bxn.1,p.D2759N|NM_052896,p.D2759N|ENST00000241312,p.D2759N	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon54	c.G8275A	p.D2759N	RLIGMSVRICQQDHHWSGKTPFCVL	RLIGMSVRICQQNHHWSGKTPFCVL	3.0	6.0	unscreened	-	3881_1:34033229-34033229 C>T_RLIGMSVRICQQNHHWSGKTPFCVL
14:21780626-21780626 G>A	0.0	3881	MELANOMA	-	-	-	-	RPGRIP1	ENST00000557771,p.R344Q|ENST00000400017,p.R371Q|ENST00000206660,p.R371Q|ENST00000556336,p.R344Q|uc001wag.3,p.R371Q|NM_020366,p.R371Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wag.3	nonsynonymous SNV	exon9	c.G1112A	p.R371Q	EFQERVEDLEKERKLLNDNYDKLLE	EFQERVEDLEKEQKLLNDNYDKLLE	4.0	4.0	unscreened	-	3881_14:21780626-21780626 G>A_EFQERVEDLEKEQKLLNDNYDKLLE
15:43817734-43817734 G>A	0.0	3881	MELANOMA	-	-	-	-	MAP1A	uc001zrt.3,p.E1355K|NM_002373,p.E1355K|ENST00000399453,p.E1355K|ENST00000382031,p.E1593K|ENST00000300231,p.E1355K	protein_coding	uc001zrt.3	nonsynonymous SNV	exon4	c.G4063A	p.E1355K	EDKVPGLKDRTSEQKKEPEPKDEVL	EDKVPGLKDRTSKQKKEPEPKDEVL	4.0	3.0	unscreened	-	3881_15:43817734-43817734 G>A_EDKVPGLKDRTSKQKKEPEPKDEVL
2:48915659-48915659 T>G	0.0	3881	MELANOMA	-	-	-	-	LHCGR	ENST00000344775,p.Y364S|uc002rwu.4,p.Y426S|NM_000233,p.Y426S|ENST00000405626,p.Y399S|ENST00000294954,p.Y426S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002rwu.4	nonsynonymous SNV	exon11	c.A1277C	p.Y426S	LIASVDSQTKGQYYNHAIDWQTGSG	LIASVDSQTKGQSYNHAIDWQTGSG	1.0	5.0	unscreened	-	3881_2:48915659-48915659 T>G_LIASVDSQTKGQSYNHAIDWQTGSG
19:16926096-16926096 G>A	0.0	3881	MELANOMA	-	-	-	-	NWD1	ENST00000523826,p.E1345K|ENST00000552788,p.E1551K|ENST00000549814,p.E1509K|ENST00000339803,p.E1416K|NM_001290355,p.E1416K|uc002net.4,p.E1416K|uc002nev.4,p.E1345K	protein_coding, nonsense_mediated_decay	uc002nev.4	nonsynonymous SNV	exon19	c.G4033A	p.E1345K	PQDLESESAQGNETKSNKCSQVCLI	PQDLESESAQGNKTKSNKCSQVCLI	1.0	3.0	unscreened	-	3881_19:16926096-16926096 G>A_PQDLESESAQGNKTKSNKCSQVCLI
5:156589879-156589879 G>A	0.0	3881	MELANOMA	-	-	-	-	FAM71B	ENST00000302938,p.S466F|uc003lwn.3,p.S466F|NM_130899,p.S466F	protein_coding	uc003lwn.3	nonsynonymous SNV	exon2	c.C1397T	p.S466F	RRRAGDKNQKASSHRSASGHKNTRD	RRRAGDKNQKASFHRSASGHKNTRD	1.0	5.0	unscreened	-	3881_5:156589879-156589879 G>A_RRRAGDKNQKASFHRSASGHKNTRD
X:110395670-110395670 C>T	0.0	3881	MELANOMA	-	-	-	-	PAK3	uc004eoz.2,p.P155S|ENST00000360648,p.P191S|NM_001128168,p.P191S|NM_001128172,p.P176S|ENST00000446737,p.P155S|NM_001128166,p.P155S|ENST00000417227,p.P176S|ENST00000519681,p.P176S|ENST00000372010,p.P170S|ENST00000425146,p.P155S|ENST00000262836,p.P170S|uc010npw.1,p.P176S|NM_001128173,p.P170S|uc010npt.1,p.P155S|ENST00000518291,p.P191S|uc010npu.1,p.P155S|uc010npv.1,p.P191S|NM_002578,p.P155S|uc004epa.2,p.P170S|ENST00000372007,p.P155S|NM_001128167,p.P155S	protein_coding, processed_transcript	uc010npw.1	nonsynonymous SNV	exon5	c.C526T	p.P176S	GDKSAHGYIAAHPSSTKTASEPPLA	GDKSAHGYIAAHSSSTKTASEPPLA	3.0	6.0	unscreened	-	3881_X:110395670-110395670 C>T_GDKSAHGYIAAHSSSTKTASEPPLA
19:9069603-9069603 C>T	0.0	3881	MELANOMA	-	-	ID=COSM303974,COSM303973,COSM303972;OCCURENCE=1(central_nervous_system)	2	MUC16	uc002mkp.3,p.G5948E|ENST00000397910,p.G5948E|NM_024690,p.G5948E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G17843A	p.G5948E	ITSHSSLYSAVSGSSPTSALPVTSL	ITSHSSLYSAVSESSPTSALPVTSL	1.0	4.0	unscreened	-	3881_19:9069603-9069603 C>T_ITSHSSLYSAVSESSPTSALPVTSL
2:228157935-228157935 G>A	0.0	3881	MELANOMA	-	-	-	-	COL4A3	NM_000091,p.G1080E|ENST00000304990,p.G117E|ENST00000396578,p.G1080E|uc002vom.2,p.G1080E	retained_intron, protein_coding, processed_transcript	uc002vom.2	nonsynonymous SNV	exon38	c.G3239A	p.G1080E	GPTGDPGLPGDMGKKGEMGQPGPPG	GPTGDPGLPGDMEKKGEMGQPGPPG	3.0	4.0	unscreened	-	3881_2:228157935-228157935 G>A_GPTGDPGLPGDMEKKGEMGQPGPPG
7:47873957-47873957 C>T	0.0	3881	MELANOMA	-	-	-	-	PKD1L1	uc003tny.2,p.D2052N|NM_138295,p.D2052N|ENST00000289672,p.D2052N	retained_intron, protein_coding, processed_transcript	uc003tny.2	nonsynonymous SNV	exon40	c.G6154A	p.D2052N	APHGPNSWGRIPDAQEPRKQPASAI	APHGPNSWGRIPNAQEPRKQPASAI	2.0	5.0	unscreened	-	3881_7:47873957-47873957 C>T_APHGPNSWGRIPNAQEPRKQPASAI
1:196694292-196694292 C>T	0.0	3881	MELANOMA	-	-	-	-	CFH	uc001gtj.4,p.P580S|ENST00000367429,p.P580S|NM_000186,p.P580S	retained_intron, protein_coding, ambiguous_orf	uc001gtj.4	nonsynonymous SNV	exon12	c.C1738T	p.P580S	ECELPKIDVHLVPDRKKDQYKVGEV	ECELPKIDVHLVSDRKKDQYKVGEV	7.0	6.0	unscreened	-	3881_1:196694292-196694292 C>T_ECELPKIDVHLVSDRKKDQYKVGEV
17:1961138-1961138 G>A	0.0	3881	MELANOMA	-	-	-	-	HIC1	uc021tnn.1,p.G385D|NM_001098202,p.G404D|uc002fty.4,p.G385D|NM_006497,p.G385D|uc010cjy.3,p.G404D|ENST00000322941,p.G404D|uc002ftz.4,p.G385D|ENST00000399849,p.G385D	protein_coding, processed_transcript	uc021tnn.1	nonsynonymous SNV	exon1	c.G1154A	p.G385D	DGDDYKSSSEETGSSEDPSPPGGHL	DGDDYKSSSEETDSSEDPSPPGGHL	5.0	7.0	unscreened	-	3881_17:1961138-1961138 G>A_DGDDYKSSSEETDSSEDPSPPGGHL
19:46375928-46375928 G>A	0.0	3881	MELANOMA	-	-	-	-	FOXA3	NM_004497,p.G222E|ENST00000302177,p.G222E|uc002pdr.3,p.G222E	protein_coding	uc002pdr.3	nonsynonymous SNV	exon2	c.G665A	p.G222E	QKRFKLEEKVKKGGSGAATTTRNGT	QKRFKLEEKVKKEGSGAATTTRNGT	1.0	5.0	unscreened	-	3881_19:46375928-46375928 G>A_QKRFKLEEKVKKEGSGAATTTRNGT
11:12315441-12315441 G>A	0.0	3881	MELANOMA	-	-	-	-	MICALCL	NM_032867,p.E155K|ENST00000256186,p.E155K|uc001mkg.1,p.E155K	protein_coding, processed_transcript	uc001mkg.1	nonsynonymous SNV	exon3	c.G463A	p.E155K	GQELSPLAGEDREKGSTGARKEEEG	GQELSPLAGEDRKKGSTGARKEEEG	1.0	4.0	unscreened	-	3881_11:12315441-12315441 G>A_GQELSPLAGEDRKKGSTGARKEEEG
18:61585199-61585199 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1711489;OCCURENCE=1(skin)	-	SERPINB10	uc010xew.2,p.E79K|NM_005024,p.E79K|uc010xev.2,p.E79K|ENST00000238508,p.E79K	protein_coding	uc010xew.2	nonsynonymous SNV	exon3	c.G235A	p.E79K	KCDPESEKKRKMEFNLSNSEEIHSD	KCDPESEKKRKMKFNLSNSEEIHSD	1.0	4.0	unscreened	-	3881_18:61585199-61585199 G>A_KCDPESEKKRKMKFNLSNSEEIHSD
5:177675227-177675227 C>T	0.0	3881	MELANOMA	-	-	-	-	COL23A1	uc010jkt.2,p.G275E|ENST00000390654,p.G393E|NM_173465,p.G393E|uc021yiz.1,p.G393E	protein_coding, processed_transcript	uc021yiz.1	nonsynonymous SNV	exon20	c.G1178A	p.G393E	GLPGADGLKGEKGESASDSLQESLA	GLPGADGLKGEKEESASDSLQESLA	1.0	6.0	unscreened	-	3881_5:177675227-177675227 C>T_GLPGADGLKGEKEESASDSLQESLA
1:157765956-157765956 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1688817,COSM1688816;OCCURENCE=1(skin)	-	FCRL1	ENST00000358292,p.P366S|NM_001159397,p.P366S|uc001fri.3,p.P366S	protein_coding, processed_transcript	uc001fri.3	nonsynonymous SNV	exon10	c.C1096T	p.P366S	QKPWGHIWRTRFP	QKPWGHIWRTRFS	4.0	3.0	unscreened	-	3881_1:157765956-157765956 G>A_QKPWGHIWRTRFS
7:123302788-123302788 G>A	0.0	3881	MELANOMA	-	-	-	-	LMOD2	uc003vky.2,p.G383E|ENST00000458573,p.G383E|NM_207163,p.G383E	protein_coding	uc003vky.2	nonsynonymous SNV	exon2	c.G1148A	p.G383E	GGPNLRTKVWQRGTPSSSPYVSPRH	GGPNLRTKVWQRETPSSSPYVSPRH	1.0	5.0	unscreened	-	3881_7:123302788-123302788 G>A_GGPNLRTKVWQRETPSSSPYVSPRH
7:141537907-141537907 C>T	0.0	3881	MELANOMA	-	-	ID=COSM234915;OCCURENCE=1(skin)	-	PRSS37	ENST00000452758,p.E51K	protein_coding, nonsense_mediated_decay	ENST00000452758	nonsynonymous SNV	exon3	c.G151A	p.E51K	GAGPSSLLFTKSESDAGKFQEQSQR	GAGPSSLLFTKSKSDAGKFQEQSQR	1.0	6.0	unscreened	-	3881_7:141537907-141537907 C>T_GAGPSSLLFTKSKSDAGKFQEQSQR
19:9801205-9801205 C>T	0.0	3881	MELANOMA	-	-	ID=COSM1590440;OCCURENCE=2(endometrium)	-	ZNF812	uc021uop.1,p.R325Q|uc010xkx.2,p.R221Q|ENST00000457674,p.R325Q|NM_001199814,p.R325Q	protein_coding, processed_transcript	uc021uop.1	nonsynonymous SNV	exon6	c.G974A	p.R325Q	AFTQYTGLAIHIRNHTGEKHYQCKE	AFTQYTGLAIHIQNHTGEKHYQCKE	4.0	4.0	unscreened	-	3881_19:9801205-9801205 C>T_AFTQYTGLAIHIQNHTGEKHYQCKE
19:51191180-51191180 C>T	0.0	3881	MELANOMA	-	-	-	-	SHANK1	uc002psw.1,p.A154T|uc002psx.1,p.A770T|ENST00000293441,p.A770T|ENST00000359082,p.A761T|ENST00000391813,p.A157T|NM_016148,p.A770T|ENST00000391814,p.A770T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002psx.1	nonsynonymous SNV	exon17	c.G2308A	p.A770T	RHPDMDEAVHKKAPQQAKRLPPPTI	RHPDMDEAVHKKTPQQAKRLPPPTI	1.0	4.0	unscreened	-	3881_19:51191180-51191180 C>T_RHPDMDEAVHKKTPQQAKRLPPPTI
8:77767831-77767831 C>T	1.0	3881	MELANOMA	-	-	-	-	ZFHX4	uc003yau.2,p.P2892S|ENST00000455469,p.P2847S|ENST00000521891,p.P2892S|NM_024721,p.P2892S|ENST00000050961,p.P2847S|uc003yaw.1,p.P2847S|ENST00000518282,p.P2866S	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon9	c.C8539T	p.P2847S	GDHDQSFYITDDPDDNADRSETSSI	GDHDQSFYITDDSDDNADRSETSSI	7.0	5.0	unscreened	-	3881_8:77767831-77767831 C>T_GDHDQSFYITDDSDDNADRSETSSI
11:619327-619327 C>T	0.0	3881	MELANOMA	-	-	-	-	CDHR5	uc009ycd.3,p.E453K|NM_001171968,p.E453K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ycd.3	nonsynonymous SNV	exon12	c.G1357A	p.E453K	GTATTVIEIQVSEQEPPSTEAGGTT	GTATTVIEIQVSKQEPPSTEAGGTT	2.0	4.0	unscreened	-	3881_11:619327-619327 C>T_GTATTVIEIQVSKQEPPSTEAGGTT
X:122756962-122756962 C>T	0.0	3881	MELANOMA	-	-	-	-	THOC2	ENST00000355725,p.E1226K|ENST00000491737,p.E1111K|uc004etw.1,p.E47K|NM_001081550,p.E1226K|uc004etu.3,p.E1226K|ENST00000245838,p.E1226K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004etw.1	nonsynonymous SNV	exon1	c.G139A	p.E47K	GSASKSDESSTEETDKSRERSQCGV	GSASKSDESSTEKTDKSRERSQCGV	10.0	6.0	unscreened	-	3881_X:122756962-122756962 C>T_GSASKSDESSTEKTDKSRERSQCGV
8:139164131-139164131 G>A	0.0	3881	MELANOMA	-	-	-	2	FAM135B	uc003yuy.3,p.P863S|ENST00000276737,p.P863S|uc003yux.3,p.P764S|ENST00000467365,p.P173S|ENST00000395297,p.P863S|uc003yva.3,p.P425S|uc003yvb.3,p.P425S|NM_015912,p.P863S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yvb.3	nonsynonymous SNV	exon1	c.C1273T	p.P425S	KGKQFDAQGHCLPDGRTENTPGVET	KGKQFDAQGHCLSDGRTENTPGVET	1.0	4.0	unscreened	-	3881_8:139164131-139164131 G>A_KGKQFDAQGHCLSDGRTENTPGVET
3:122634383-122634383 G>A	0.0	3881	MELANOMA	-	-	-	-	SEMA5B	NM_001256347,p.S685F|NM_001031702,p.S631F|ENST00000451055,p.S685F|ENST00000357599,p.S631F|NM_001256348,p.S573F|ENST00000475244,p.S631F|uc031sbm.1,p.S685F|ENST00000393583,p.S631F|uc010hro.2,p.S573F|NM_001256346,p.S631F|ENST00000195173,p.S631F|uc011bju.2,p.S573F|uc003egb.2,p.S631F|uc003efz.2,p.S631F	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sbm.1	nonsynonymous SNV	exon14	c.C2054T	p.S685F	QPCEHLDGDNSGSCLCRARSCDSPR	QPCEHLDGDNSGFCLCRARSCDSPR	3.0	4.0	unscreened	-	3881_3:122634383-122634383 G>A_QPCEHLDGDNSGFCLCRARSCDSPR
11:619327-619327 C>T	0.0	3881	MELANOMA	-	-	-	-	CDHR5	uc001lql.3,p.E453K|uc001lqj.3,p.E453K|ENST00000397542,p.E453K|uc009ycc.3,p.E287K|ENST00000358353,p.E453K|NM_021924,p.E453K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ycc.3	nonsynonymous SNV	exon12	c.G859A	p.E287K	GTATTVIEIQVSEQEPPSTDVPPSP	GTATTVIEIQVSKQEPPSTDVPPSP	2.0	4.0	unscreened	-	3881_11:619327-619327 C>T_GTATTVIEIQVSKQEPPSTDVPPSP
11:619327-619327 C>T	0.0	3881	MELANOMA	-	-	-	-	CDHR5	ENST00000349570,p.E453K|NM_031264,p.E453K|uc001lqk.3,p.E453K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lqk.3	nonsynonymous SNV	exon12	c.G1357A	p.E453K	GTATTVIEIQVSEQEPPSTGGGPSE	GTATTVIEIQVSKQEPPSTGGGPSE	2.0	4.0	unscreened	-	3881_11:619327-619327 C>T_GTATTVIEIQVSKQEPPSTGGGPSE
2:167262274-167262274 C>T	0.0	3881	MELANOMA	0.0014	-	-	-	SCN7A	uc002udu.2,p.R1622Q|NM_002976,p.R1622Q|ENST00000409855,p.R1622Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002udu.2	nonsynonymous SNV	exon25	c.G4865A	p.R1622Q	KITCEPITTTLKRKQEAVSATIIQR	KITCEPITTTLKQKQEAVSATIIQR	1.0	5.0	unscreened	-	3881_2:167262274-167262274 C>T_KITCEPITTTLKQKQEAVSATIIQR
14:94942498-94942498 C>A	0.0	3881	MELANOMA	-	-	-	-	SERPINA9	uc001ydf.3,p.Q4H|NM_001042518,p.Q4H|ENST00000298845,p.Q4H|ENST00000337425,p.Q4H|NM_175739,p.Q4H|uc001ydh.1,p.Q4H|uc001yde.3,p.Q4H	protein_coding, processed_transcript, nonsense_mediated_decay	uc001ydh.1	nonsynonymous SNV	exon1	c.G12T	p.Q4H	MQGQGRRRGTCKDIFC	MQGHGRRRGTCKDIFC	1.0	6.0	unscreened	-	3881_14:94942498-94942498 C>A_MQGHGRRRGTCKDIFC
22:29446045-29446045 G>A	0.0	3881	MELANOMA	-	-	-	2	ZNRF3	uc021wnq.1,p.G526S|uc003aeg.3,p.G626S|ENST00000544604,p.G626S|ENST00000402174,p.G526S|ENST00000406323,p.G526S|NM_001206998,p.G626S|ENST00000332811,p.G526S|NM_032173,p.G526S	protein_coding	uc021wnq.1	nonsynonymous SNV	exon8	c.G1576A	p.G526S	GSSGRGPALCFEGSPPPEELPAVHS	GSSGRGPALCFESSPPPEELPAVHS	4.0	6.0	unscreened	-	3881_22:29446045-29446045 G>A_GSSGRGPALCFESSPPPEELPAVHS
18:28923523-28923523 G>A	0.0	3881	MELANOMA	-	-	-	-	DSG1	NM_001942,p.E600K|uc002kwp.3,p.E600K|ENST00000257192,p.E600K	protein_coding	uc002kwp.3	nonsynonymous SNV	exon12	c.G1798A	p.E600K	ECSDGAIHSWAVEGPQPEPRDITTV	ECSDGAIHSWAVKGPQPEPRDITTV	1.0	4.0	unscreened	-	3881_18:28923523-28923523 G>A_ECSDGAIHSWAVKGPQPEPRDITTV
12:11547450-11547450 C>T	0.0	3881	MELANOMA	-	-	-	-	PRB2	ENST00000546254,p.E27K	retained_intron, protein_coding,protein_coding, processed_transcript	ENST00000546254	nonsynonymous SNV	exon2	c.G79A	p.E27K	SAQNLNEDVSQEESPSLIAGNPQGP	SAQNLNEDVSQEKSPSLIAGNPQGP	1.0	6.0	unscreened	-	3881_12:11547450-11547450 C>T_SAQNLNEDVSQEKSPSLIAGNPQGP
2:226273783-226273783 G>A	0.0	3881	MELANOMA	-	-	-	-	NYAP2	uc002voe.2,p.E63K|uc010fxa.1,p.E58K|ENST00000409269,p.E63K|ENST00000272907,p.E63K|NM_020864,p.E63K	protein_coding	uc010fxa.1	nonsynonymous SNV	exon2	c.G172A	p.E58K	NETNLAYLKEKNEKRRRQEEAIKRI	NETNLAYLKEKNKKRRRQEEAIKRI	1.0	4.0	unscreened	-	3881_2:226273783-226273783 G>A_NETNLAYLKEKNKKRRRQEEAIKRI
19:9090533-9090533 C>T	0.0	3881	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.E428K|NM_024690,p.E428K|ENST00000397910,p.E428K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G1282A	p.E428K	EETNTHHSTSGKETEGTLNTSMTPL	EETNTHHSTSGKKTEGTLNTSMTPL	1.0	5.0	unscreened	-	3881_19:9090533-9090533 C>T_EETNTHHSTSGKKTEGTLNTSMTPL
20:47989557-47989557 C>T	0.0	3881	MELANOMA	-	-	-	-	KCNB1	uc002xus.1,p.G847E|ENST00000371741,p.G847E|uc002xur.1,p.G847E|NM_004975,p.G847E	protein_coding	uc002xus.1	nonsynonymous SNV	exon3	c.G2540A	p.G847E	NHISPDVRVLPGGGAHGSTRDQSI	NHISPDVRVLPGEGAHGSTRDQSI	1.0	5.0	unscreened	-	3881_20:47989557-47989557 C>T_NHISPDVRVLPGEGAHGSTRDQSI
17:7324628-7324628 C>T	0.0	3881	MELANOMA	-	-	-	-	SPEM1	NM_199339,p.P212S|uc002ggv.3,p.P212S|ENST00000323675,p.P212S	protein_coding	uc002ggv.3	nonsynonymous SNV	exon3	c.C634T	p.P212S	LRAYVYPVNPPPPSPEAPSHKNGGE	LRAYVYPVNPPPSSPEAPSHKNGGE	1.0	5.0	unscreened	-	3881_17:7324628-7324628 C>T_LRAYVYPVNPPPSSPEAPSHKNGGE
16:51175541-51175541 C>T	0.0	3881	MELANOMA	-	-	-	-	SALL1	ENST00000440970,p.E101K|uc021tie.1,p.E198K|ENST00000251020,p.E198K|NM_002968,p.E198K|ENST00000570206,p.E101K|NM_001127892,p.E101K|uc021tid.1,p.E101K|uc021tif.1,p.E101K	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon2	c.G301A	p.E101K	GNFSVINSNVIIENLQSTKVAVAQF	GNFSVINSNVIIKNLQSTKVAVAQF	1.0	5.0	unscreened	-	3881_16:51175541-51175541 C>T_GNFSVINSNVIIKNLQSTKVAVAQF
19:44891800-44891800 G>A	1.0	3881	MELANOMA	-	-	-	-	ZNF285	uc010xxa.2,p.P210S|uc002ozd.4,p.P203S|ENST00000544719,p.P203S|ENST00000330997,p.P203S|ENST00000591679,p.P210S	retained_intron, protein_coding, nonsense_mediated_decay	uc010xxa.2	nonsynonymous SNV	exon4	c.C628T	p.P210S	DHHESQECKGEDPGRHPNCGKNLGM	DHHESQECKGEDSGRHPNCGKNLGM	5.0	6.0	unscreened	-	3881_19:44891800-44891800 G>A_DHHESQECKGEDSGRHPNCGKNLGM
11:1619170-1619170 G>A	0.0	3881	MELANOMA	-	-	-	-	KRTAP5-2	uc001ltv.3,p.S104F|ENST00000412090,p.S104F|NM_001004325,p.S104F	protein_coding	uc001ltv.3	nonsynonymous SNV	exon1	c.C311T	p.S104F	GGSKGGCGSCGGSKGGCGSCGCSQS	GGSKGGCGSCGGFKGGCGSCGCSQS	1.0	6.0	unscreened	-	3881_11:1619170-1619170 G>A_GGSKGGCGSCGGFKGGCGSCGCSQS
11:62037691-62037691 G>A	0.0	3881	MELANOMA	-	-	-	-	SCGB2A2	NM_002411,p.M1I|ENST00000227918,p.M1I|ENST00000525380,p.M1I|uc001ntc.3,p.M1I	protein_coding	uc001ntc.3	nonsynonymous SNV	exon1	c.G3A	p.M1I	MKLLMVLMLAALS	IKLLMVLMLAALS	1.0	4.0	unscreened	-	3881_11:62037691-62037691 G>A_IKLLMVLMLAALS
5:3599792-3599792 G>A	0.0	3881	MELANOMA	-	-	-	-	IRX1	ENST00000302006,p.D244N|NM_024337,p.D244N|uc003jde.3,p.D244N	protein_coding	uc003jde.3	nonsynonymous SNV	exon2	c.G730A	p.D244N	KIDEHDGDQSNEDDEDKAEAPHAPA	KIDEHDGDQSNENDEDKAEAPHAPA	2.0	5.0	unscreened	-	3881_5:3599792-3599792 G>A_KIDEHDGDQSNENDEDKAEAPHAPA
8:106814351-106814351 G>A	0.0	3881	MELANOMA	-	-	-	-	ZFPM2	ENST00000517361,p.E549K|ENST00000407775,p.E681K|ENST00000520492,p.E549K|uc003ymd.3,p.E681K|uc011lhs.2,p.E412K|ENST00000378472,p.E412K|NM_012082,p.E681K	protein_coding, processed_transcript	uc011lhs.2	nonsynonymous SNV	exon6	c.G1234A	p.E412K	DVKNPSVPLVDGESDPNKTTCEACN	DVKNPSVPLVDGKSDPNKTTCEACN	3.0	4.0	unscreened	-	3881_8:106814351-106814351 G>A_DVKNPSVPLVDGKSDPNKTTCEACN
19:59028161-59028161 C>T	1.0	3881	MELANOMA	-	-	-	-	ZBTB45	uc002qtd.3,p.E294K|ENST00000594051,p.E294K|NM_032792,p.E294K|ENST00000600990,p.E294K|uc002qtf.3,p.E294K|ENST00000354590,p.E294K	protein_coding	uc002qtf.3	nonsynonymous SNV	exon2	c.G880A	p.E294K	VFPDSYVSTWHDEDGAVPEGCPTET	VFPDSYVSTWHDKDGAVPEGCPTET	5.0	5.0	unscreened	-	3881_19:59028161-59028161 C>T_VFPDSYVSTWHDKDGAVPEGCPTET
5:169535119-169535119 G>A	0.0	3881	MELANOMA	-	-	-	-	FOXI1	NM_012188,p.R214K|uc003mai.4,p.R214K|ENST00000306268,p.R214K	protein_coding	uc003mai.4	nonsynonymous SNV	exon2	c.G641A	p.R214K	NCEKMFDNGNFRRKRKRKSDVSSST	NCEKMFDNGNFRKKRKRKSDVSSST	1.0	5.0	unscreened	-	3881_5:169535119-169535119 G>A_NCEKMFDNGNFRKKRKRKSDVSSST
8:67066466-67066466 C>T	0.0	3881	MELANOMA	-	-	-	-	TRIM55	uc003xvv.3,p.S474F|NM_184085,p.S474F|uc003xvu.3,p.S474F|NM_033058,p.S474F|ENST00000315962,p.S474F|ENST00000276573,p.S474F	retained_intron, protein_coding	uc003xvv.3	nonsynonymous SNV	exon9	c.C1421T	p.S474F	GSEGLGQIGPPGSEDSNVRKAEVAA	GSEGLGQIGPPGFEDSNVRKAEVAA	1.0	5.0	unscreened	-	3881_8:67066466-67066466 C>T_GSEGLGQIGPPGFEDSNVRKAEVAA
7:31855640-31855640 C>T	0.0	3881	MELANOMA	-	-	-	-	PDE1C	NM_005020,p.E571K|uc003tco.2,p.E631K|NM_001191059,p.E571K|ENST00000396191,p.E571K|uc003tcs.3,p.E571K|NM_001191057,p.E571K|NM_001191058,p.E631K|ENST00000396184,p.E571K|ENST00000321453,p.E571K|uc003tcr.3,p.E571K|uc003tcm.2,p.E571K|ENST00000396193,p.E631K|uc003tcn.1,p.E571K|NM_001191056,p.E571K|ENST00000396182,p.E571K	retained_intron, protein_coding, processed_transcript	uc003tcs.3	nonsynonymous SNV	exon16	c.G1711A	p.E571K	GASGKAEKKTSGETKNQVNGTRANK	GASGKAEKKTSGKTKNQVNGTRANK	3.0	6.0	unscreened	-	3881_7:31855640-31855640 C>T_GASGKAEKKTSGKTKNQVNGTRANK
20:42635214-42635214 G>A	0.0	3881	MELANOMA	0.0005	-	-	-	TOX2	uc021wdz.2,p.E65K|NM_001098796,p.E23K|ENST00000372999,p.E23K|NM_001098797,p.E65K|ENST00000442881,p.E23K|NM_001098798,p.E74K|ENST00000341197,p.E65K|uc002xlf.4,p.E74K|ENST00000358131,p.E74K|NM_032883,p.E23K|ENST00000423191,p.E23K|uc002xle.4,p.E23K|uc010ggo.3,p.E65K|uc010ggp.3,p.E23K	protein_coding	uc021wdz.2	nonsynonymous SNV	exon3	c.G193A	p.E65K	TSQTYNGQSENNEDYEIPPITPPNL	TSQTYNGQSENNKDYEIPPITPPNL	4.0	5.0	unscreened	-	3881_20:42635214-42635214 G>A_TSQTYNGQSENNKDYEIPPITPPNL
16:24268220-24268220 G>A	0.0	3881	MELANOMA	-	-	ID=COSM471513;OCCURENCE=1(kidney),1(skin)	-	CACNG3	NM_006539,p.E49K|ENST00000005284,p.E49K|uc002dmf.3,p.E49K	protein_coding	uc002dmf.3	nonsynonymous SNV	exon1	c.G145A	p.E49K	RGVCRTKSTSDNETSRKNEEVMTHS	RGVCRTKSTSDNKTSRKNEEVMTHS	1.0	6.0	unscreened	-	3881_16:24268220-24268220 G>A_RGVCRTKSTSDNKTSRKNEEVMTHS
11:111385544-111385544 G>A	0.0	3881	MELANOMA	-	-	-	-	C11orf88	uc001plo.1,p.R12Q|ENST00000529167,p.R12Q|uc001pln.4,p.R12Q|uc009yyd.3,p.R12Q|ENST00000375618,p.R12Q|NM_001100388,p.R12Q|ENST00000332814,p.R12Q|NM_207430,p.R12Q	protein_coding, nonsense_mediated_decay	uc009yyd.3	nonsynonymous SNV	exon1	c.G35A	p.R12Q	METGPSEEPSGRKESQEMCPPGLL	METGPSEEPSGQKESQEMCPPGLL	1.0	4.0	unscreened	-	3881_11:111385544-111385544 G>A_METGPSEEPSGQKESQEMCPPGLL
17:6380443-6380443 C>T	0.0	3881	MELANOMA	-	-	-	-	PITPNM3	NM_031220,p.D331N|uc002gdd.4,p.D331N|NM_001165966,p.D295N|ENST00000421306,p.D295N|uc010cln.3,p.D295N|ENST00000262483,p.D331N	retained_intron, protein_coding, processed_transcript	uc010cln.3	nonsynonymous SNV	exon8	c.G883A	p.D295N	SKSNIDISSGLEDEEPKRPLPRKQS	SKSNIDISSGLENEEPKRPLPRKQS	4.0	5.0	unscreened	-	3881_17:6380443-6380443 C>T_SKSNIDISSGLENEEPKRPLPRKQS
5:177675227-177675227 C>T	0.0	3881	MELANOMA	-	-	-	-	COL23A1	uc021yiy.1,p.G169E	protein_coding, processed_transcript	uc021yiy.1	nonsynonymous SNV	exon20	c.G506A	p.G169E	GLPGPKGEKGAPGDFGPRGDQGQDG	GLPGPKGEKGAPEDFGPRGDQGQDG	1.0	6.0	unscreened	-	3881_5:177675227-177675227 C>T_GLPGPKGEKGAPEDFGPRGDQGQDG
20:51871516-51871516 G>A	0.0	3881	MELANOMA	-	-	-	-	TSHZ2	ENST00000329613,p.E504K|NM_173485,p.E507K|uc021wex.1,p.E504K|NM_001193421,p.E504K|ENST00000603338,p.E504K|uc002xwo.3,p.E507K|ENST00000371497,p.E507K	protein_coding, processed_transcript	uc021wex.1	nonsynonymous SNV	exon2	c.G1510A	p.E504K	TIKYQYLREEDLEDGSKGGGDILKS	TIKYQYLREEDLKDGSKGGGDILKS	4.0	5.0	unscreened	-	3881_20:51871516-51871516 G>A_TIKYQYLREEDLKDGSKGGGDILKS
19:44891800-44891800 G>A	1.0	3881	MELANOMA	-	-	-	-	ZNF285	NM_001291488,p.P210S|NM_001291490,p.P48S|NM_152354,p.P203S|NM_001291489,p.P203S|NM_001291491,p.P48S	retained_intron, protein_coding, nonsense_mediated_decay	NM_152354	nonsynonymous SNV	exon4	c.C607T	p.P203S	DHHESQECKGEDPGRHPSCGKNLGM	DHHESQECKGEDSGRHPSCGKNLGM	5.0	6.0	unscreened	-	3881_19:44891800-44891800 G>A_DHHESQECKGEDSGRHPSCGKNLGM
12:11547450-11547450 C>T	0.0	3881	MELANOMA	-	-	-	-	PRB2	ENST00000389362,p.E27K|NM_006248,p.E27K|uc010shk.1,p.E27K	retained_intron, protein_coding,protein_coding, processed_transcript	uc010shk.1	nonsynonymous SNV	exon2	c.G79A	p.E27K	SAQNLNEDVSQEESPSLIAGNPQGA	SAQNLNEDVSQEKSPSLIAGNPQGA	1.0	6.0	unscreened	-	3881_12:11547450-11547450 C>T_SAQNLNEDVSQEKSPSLIAGNPQGA
19:38979997-38979997 G>A	0.0	3881	MELANOMA	-	-	ID=COSM1712237;OCCURENCE=1(skin)	-	RYR1	NM_001042723,p.E1910K|ENST00000355481,p.E1910K|NM_000540,p.E1910K|uc002oit.3,p.E1910K|ENST00000359596,p.E1910K|uc002oiu.3,p.E1910K|ENST00000360985,p.E1910K	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon35	c.G5728A	p.E1910K	ETAQEKEDEEKEEEEAAEGEKEEGL	ETAQEKEDEEKEKEEAAEGEKEEGL	3.0	4.0	unscreened	-	3881_19:38979997-38979997 G>A_ETAQEKEDEEKEKEEAAEGEKEEGL
5:143853322-143853322 C>T	0.0	3881	MELANOMA	-	-	-	-	KCTD16	NM_020768,p.S311F|uc003lnn.1,p.S311F|uc003lnm.1,p.S311F|ENST00000512467,p.S311F|ENST00000507359,p.S311F	protein_coding	uc003lnn.1	nonsynonymous SNV	exon3	c.C932T	p.S311F	KEGESGTSCNDLSTSSCDSQSEASS	KEGESGTSCNDLFTSSCDSQSEASS	1.0	4.0	unscreened	-	3881_5:143853322-143853322 C>T_KEGESGTSCNDLFTSSCDSQSEASS
12:11546032-11546032 C>T	0.0	3881	MELANOMA	-	-	-	-	PRB2	NM_006248,p.G327E|uc010shk.1,p.G327E|ENST00000389362,p.G327E	protein_coding, processed_transcript	uc010shk.1	nonsynonymous SNV	exon3	c.G980A	p.G327E	PQGPPPPPGKPQGPPPQGGNKPQGP	PQGPPPPPGKPQEPPPQGGNKPQGP	1.0	5.0	unscreened	-	3881_12:11546032-11546032 C>T_PQGPPPPPGKPQEPPPQGGNKPQGP
1:57528613-57528613 G>A	0.0	3881	MELANOMA	-	-	-	-	DAB1	ENST00000414851,p.P188S|ENST00000420954,p.P188S|uc001cyq.1,p.P188S|ENST00000332102,p.P188S|uc009vzw.1,p.P188S	protein_coding, processed_transcript	uc009vzw.1	nonsynonymous SNV	exon7	c.C562T	p.P188S	KDKQCEQAVYQVPTSQKKEGVYDVP	KDKQCEQAVYQVSTSQKKEGVYDVP	1.0	6.0	unscreened	-	3881_1:57528613-57528613 G>A_KDKQCEQAVYQVSTSQKKEGVYDVP
17:19480681-19480681 G>A	1.0	3881	MELANOMA	-	-	-	-	SLC47A1	uc010cqq.1,p.G256R|NM_018242,p.G510R|ENST00000457293,p.G510R|uc010vzb.1,p.G185R|ENST00000270570,p.G510R|uc010vzc.1,p.G182R|uc010vza.1,p.G222R|uc002gvx.3,p.G510R|ENST00000395585,p.G510R|uc010cqp.1,p.G208R|ENST00000575023,p.G208R|ENST00000571335,p.G256R|uc002gvy.1,p.G510R	retained_intron, protein_coding, processed_transcript	uc010vzc.1	nonsynonymous SNV	exon8	c.G544A	p.G182R	PENLEGILTNDVGKTGEPQSDQQMR	PENLEGILTNDVRKTGEPQSDQQMR	5.0	6.0	unscreened	-	3881_17:19480681-19480681 G>A_PENLEGILTNDVRKTGEPQSDQQMR
X:142803746-142803746 G>A	0.0	3881	MELANOMA	-	-	-	-	SPANXN2	uc004fbz.3,p.S6L|ENST00000370498,p.S6L|NM_001009615,p.S6L	protein_coding	uc004fbz.3	nonsynonymous SNV	exon1	c.C17T	p.S6L	MEQPTSSTNGEKRKSPCE	MEQPTLSTNGEKRKSPCE	1.0	6.0	unscreened	-	3881_X:142803746-142803746 G>A_MEQPTLSTNGEKRKSPCE
6:66054070-66054070 C>T	0.0	3881	MELANOMA	-	-	-	-	EYS	NM_001142800,p.G487E|ENST00000370618,p.G487E|uc003per.1,p.G487E|uc003peq.3,p.G487E|ENST00000342421,p.G487E|ENST00000370616,p.G487E|ENST00000503581,p.G487E|NM_001142801,p.G487E|uc021zbn.1,p.G487E|ENST00000393380,p.G487E|ENST00000370621,p.G487E|uc011dxu.1,p.G487E|NM_001292009,p.G487E|NM_198283,p.G487E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zbn.1	nonsynonymous SNV	exon10	c.G1460A	p.G487E	AQFEYVWQLGFAGSEGEKCQGVIDA	AQFEYVWQLGFAESEGEKCQGVIDA	1.0	6.0	unscreened	-	3881_6:66054070-66054070 C>T_AQFEYVWQLGFAESEGEKCQGVIDA
12:21422502-21422502 C>T	0.0	3881	MELANOMA	-	-	-	-	SLCO1A2	NM_021094,p.E665K|ENST00000537524,p.E533K|ENST00000307378,p.E665K|uc010sio.2,p.E533K|uc010sip.2,p.E533K|ENST00000452078,p.E665K|uc001res.3,p.E665K|NM_134431,p.E665K|uc001rer.3,p.E665K|uc010siq.2,p.E533K|ENST00000458504,p.E533K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010siq.2	nonsynonymous SNV	exon14	c.G1597A	p.E533K	DIYQKSTVLKDDELKTKL	DIYQKSTVLKDDKLKTKL	1.0	6.0	unscreened	-	3881_12:21422502-21422502 C>T_DIYQKSTVLKDDKLKTKL
16:9857935-9857935 C>T	0.0	3881	MELANOMA	-	-	-	1	GRIN2A	NM_001134408,p.E1156K|uc002czr.4,p.E1156K|uc010uym.2,p.E1156K|ENST00000404927,p.E1156K|ENST00000396575,p.E1156K|ENST00000396573,p.E1156K|uc002czo.4,p.E1156K|NM_001134407,p.E1156K|NM_000833,p.E1156K|ENST00000562109,p.E1156K|uc010uyn.2,p.E999K|ENST00000330684,p.E1156K|ENST00000535259,p.E999K	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon12	c.G2995A	p.E999K	NVDFPDPYQDPSENFRKGDSTLPMN	NVDFPDPYQDPSKNFRKGDSTLPMN	3.0	6.0	unscreened	-	3881_16:9857935-9857935 C>T_NVDFPDPYQDPSKNFRKGDSTLPMN
1:57528613-57528613 G>A	0.0	3881	MELANOMA	-	-	-	-	DAB1	ENST00000439789,p.P104S|uc001cyr.1,p.P104S|ENST00000371232,p.P104S	protein_coding, processed_transcript	uc001cyr.1	nonsynonymous SNV	exon4	c.C310T	p.P104S	GGIKIFDEKTGVPTSQKKEGVYDVP	GGIKIFDEKTGVSTSQKKEGVYDVP	1.0	6.0	unscreened	-	3881_1:57528613-57528613 G>A_GGIKIFDEKTGVSTSQKKEGVYDVP
1:57528613-57528613 G>A	0.0	3881	MELANOMA	-	-	-	-	DAB1	ENST00000371236,p.P223S|uc001cyt.1,p.P223S|ENST00000371234,p.P223S|uc009vzx.1,p.P223S|uc001cys.1,p.P223S|NM_021080,p.P223S|ENST00000371231,p.P223S	protein_coding, processed_transcript	uc009vzx.1	nonsynonymous SNV	exon9	c.C667T	p.P223S	RDPETEENIYQVPTSQKKEGVYDVP	RDPETEENIYQVSTSQKKEGVYDVP	1.0	6.0	unscreened	-	3881_1:57528613-57528613 G>A_RDPETEENIYQVSTSQKKEGVYDVP
1:32196676-32196676 C>T	0.0	3881	MELANOMA	-	-	-	-	BAI2	NM_001294335,p.G1369S|uc010ogp.2,p.G1302S|ENST00000440175,p.G978S|ENST00000398538,p.G1357S|ENST00000527361,p.G1336S|ENST00000373655,p.G1369S|ENST00000398542,p.G1269S|uc010ogn.2,p.G339S|uc001btn.3,p.G1369S|uc010ogq.2,p.G1336S|ENST00000398556,p.G1284S|ENST00000373658,p.G1369S|uc001bto.3,p.G1369S|ENST00000257070,p.G1336S|uc001btp.1,p.G363S|ENST00000398547,p.G1302S|uc010ogo.2,p.G978S|NM_001294336,p.G1336S	retained_intron, protein_coding, processed_transcript	uc010ogq.2	nonsynonymous SNV	exon26	c.G4006A	p.G1336S	RTLSLQPGGGGGGGEDAPRARPEGT	RTLSLQPGGGGGSGEDAPRARPEGT	3.0	5.0	unscreened	-	3881_1:32196676-32196676 C>T_RTLSLQPGGGGGSGEDAPRARPEGT
5:13882882-13882882 C>T	0.0	3881	MELANOMA	-	-	-	-	DNAH5	ENST00000265104,p.E1073K|uc003jfd.2,p.E1073K|NM_001369,p.E1073K	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon21	c.G3217A	p.E1073K	IQERKMAALQSNEDSDSDVEMGENE	IQERKMAALQSNKDSDSDVEMGENE	1.0	4.0	unscreened	-	3881_5:13882882-13882882 C>T_IQERKMAALQSNKDSDSDVEMGENE
11:70336327-70336327 G>A	0.0	3881	MELANOMA	-	-	ID=COSM931505;OCCURENCE=1(endometrium)	-	SHANK2	ENST00000409530,p.P280S|ENST00000357171,p.P281S|uc010rqo.1,p.P82S|ENST00000449116,p.P271S|uc010rqp.1,p.P271S	protein_coding, processed_transcript	uc010rqp.1	nonsynonymous SNV	exon6	c.C811T	p.P271S	PPQKLPLGFQTQP	PPQKLPLGFQTQS	1.0	4.0	unscreened	-	3881_11:70336327-70336327 G>A_PPQKLPLGFQTQS
11:1780201-1780202 AC>-	1.0	3942	RECTAL	-	-	-	-	CTSD	ENST00000236671,p.V156fs|uc001luc.2,p.V156fs|NM_001909,p.V156fs|ENST00000433655,p.V156fs|ENST00000438213,p.V141fs	retained_intron, nonsense_mediated_decay, protein_coding	uc001luc.2	frameshift deletion	exon4	c.468_469del	p.V156fs	SGSLSGYLSQDTVSVPCQSASSASA	SGSLSGYLSQDTVGALPVSVVSLCPGRCQSGEAGLWGGHQAARHHLHRSQVRWHPGHGLPPHLRQQRAARLRQPDAAEAGGPEHLLLLPEQGPRCAAWG	10.0	4.0	unscreened	-	3942_11:1780201-1780202 AC>-_SGSLSGYLSQDTVGALPVSVVSLCPGRCQSGEAGLWGGHQAARHHLHRSQVRWHPGHGLPPHLRQQRAARLRQPDAAEAGGPEHLLLLPEQGPRCAAWG
14:23344774-23344774 C>T	1.0	3942	RECTAL	-	-	-	-	LRP10	NM_014045,p.P206L|ENST00000359591,p.P206L|ENST00000546834,p.P206L|uc001whe.3,p.P82L|uc001whd.3,p.P206L	retained_intron, protein_coding, processed_transcript	uc001whe.3	nonsynonymous SNV	exon2	c.C245T	p.P82L	VTLEDFYGVFSSPGYTHLASVSHPQ	VTLEDFYGVFSSLGYTHLASVSHPQ	10.0	4.0	-	-	3942_14:23344774-23344774 C>T_VTLEDFYGVFSSLGYTHLASVSHPQ
1:206905936-206905936 C>A	1.0	3942	RECTAL	-	-	-	-	MAPKAPK2	NM_032960,p.A359D|ENST00000367103,p.A359D|uc001hem.2,p.A359D	protein_coding, processed_transcript	uc001hem.2	nonsynonymous SNV	exon10	c.C1076A	p.A359D	ERWEDVKEEMTSALATMRVDYEQIK	ERWEDVKEEMTSDLATMRVDYEQIK	9.0	5.0	-	-	3942_1:206905936-206905936 C>A_ERWEDVKEEMTSDLATMRVDYEQIK
11:3784142-3784142 G>T	1.0	3942	RECTAL	-	-	-	1	NUP98	ENST00000397004,p.A359D|uc001lyk.2,p.A359D|NM_139131,p.A359D|ENST00000359171,p.A359D|NM_016320,p.A359D|ENST00000397007,p.A359D|NM_139132,p.A359D|ENST00000355260,p.A359D|ENST00000324932,p.A359D|uc001lyi.3,p.A359D|uc001lyj.2,p.A359D|NM_005387,p.A359D|uc001lyh.3,p.A359D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lyk.2	nonsynonymous SNV	exon9	c.C1076A	p.A359D	TGLFGQTNTGFGAVGSTLFGNNKLT	TGLFGQTNTGFGDVGSTLFGNNKLT	9.0	2.0	CD8	-	3942_11:3784142-3784142 G>T_TGLFGQTNTGFGDVGSTLFGNNKLT
9:130716203-130716203 C>T	1.0	3942	RECTAL	-	-	-	-	FAM102A	ENST00000373095,p.E50K|uc004bsx.2,p.E50K|NM_001035254,p.E50K	retained_intron, protein_coding, processed_transcript	uc004bsx.2	nonsynonymous SNV	exon2	c.G148A	p.E50K	LDGGDFVSLSSREEVQENCVRWRKR	LDGGDFVSLSSRKEVQENCVRWRKR	9.0	5.0	-	-	3942_9:130716203-130716203 C>T_LDGGDFVSLSSRKEVQENCVRWRKR
13:24334316-24334316 G>C	1.0	3942	RECTAL	-	-	-	-	MIPEP	NM_005932,p.A630G|ENST00000382172,p.A630G|uc001uox.4,p.A630G	protein_coding, processed_transcript	uc001uox.4	nonsynonymous SNV	exon17	c.C1889G	p.A630G	WQLRFSHLVGYGARYYSYLMSRAVA	WQLRFSHLVGYGGRYYSYLMSRAVA	9.0	1.0	-	-	3942_13:24334316-24334316 G>C_WQLRFSHLVGYGGRYYSYLMSRAVA
1:160262382-160262382 T>A	1.0	3942	RECTAL	-	-	-	-	COPA	uc001fvv.4,p.Q960L|uc009wti.3,p.Q951L|NM_004371,p.Q951L|ENST00000241704,p.Q951L|ENST00000368069,p.Q960L|NM_001098398,p.Q960L	retained_intron, protein_coding	uc009wti.3	nonsynonymous SNV	exon28	c.A2852T	p.Q951L	AMRLLHDQVGVIQFGPYKQLFLQTY	AMRLLHDQVGVILFGPYKQLFLQTY	9.0	7.0	-	-	3942_1:160262382-160262382 T>A_AMRLLHDQVGVILFGPYKQLFLQTY
11:117060080-117060080 C>T	1.0	3942	RECTAL	-	-	-	-	SIDT2	uc001pqg.2,p.A482V|uc010rxe.1,p.A461V|uc001pqi.1,p.A458V|ENST00000324225,p.A461V|uc001pqh.1,p.A461V|NM_001040455,p.A461V|ENST00000278951,p.A482V|ENST00000431081,p.A458V	retained_intron, protein_coding, processed_transcript	uc010rxe.1	nonsynonymous SNV	exon15	c.C1382T	p.A461V	YFWNIATIAVFYALPVVQLVITYQT	YFWNIATIAVFYVLPVVQLVITYQT	8.0	9.0	-	-	3942_11:117060080-117060080 C>T_YFWNIATIAVFYVLPVVQLVITYQT
X:53222180-53222180 C>T	1.0	3942	RECTAL	-	-	-	1	KDM5C	NM_004187,p.C1551Y|ENST00000404049,p.C1550Y|ENST00000375401,p.C1551Y|uc004drz.3,p.C1551Y|ENST00000375383,p.C1507Y|uc004dsa.3,p.C1550Y|ENST00000375379,p.C1548Y|NM_001282622,p.C1550Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004dsa.3	nonsynonymous SNV	exon26	c.G4649A	p.C1550Y	PFSTLTPRLHLPCPQQPPQQQL	PFSTLTPRLHLPYPQQPPQQQL	9.0	5.0	-	-	3942_X:53222180-53222180 C>T_PFSTLTPRLHLPYPQQPPQQQL
7:120593395-120593395 C>G	1.0	3942	RECTAL	-	-	-	-	ING3	ENST00000339121,p.F46L|uc003vjl.3,p.F46L|ENST00000445699,p.F46L|uc003vjn.3,p.F46L|uc003vjp.3,p.F46L|uc011kns.2,p.F31L|ENST00000431467,p.F31L|uc011knr.1,p.F46L|uc003vjm.1,p.F46L|NM_198267,p.F46L|NM_019071,p.F46L|ENST00000427726,p.F46L|ENST00000315870,p.F46L	retained_intron, protein_coding, nonsense_mediated_decay	uc011kns.2	nonsynonymous SNV	exon2	c.C93G	p.F31L	NAMDQLEQRVSEFFMNAKKNKPEWR	NAMDQLEQRVSELFMNAKKNKPEWR	6.0	3.0	-	-	3942_7:120593395-120593395 C>G_NAMDQLEQRVSELFMNAKKNKPEWR
11:73686657-73686657 C>T	1.0	3942	RECTAL	0.0009	-	-	-	UCP2	ENST00000545212,p.A103T	retained_intron, protein_coding, processed_transcript	ENST00000545212	nonsynonymous SNV	exon3	c.G307A	p.A103T	ANLMTGFCTTVIASPVDVVKTRYMN	ANLMTGFCTTVITSPVDVVKTRYMN	9.0	9.0	-	-	3942_11:73686657-73686657 C>T_ANLMTGFCTTVITSPVDVVKTRYMN
11:73686657-73686657 C>T	1.0	3942	RECTAL	0.0009	-	-	-	UCP2	ENST00000310473,p.A232T|NM_003355,p.A232T|uc001oup.1,p.A232T|ENST00000544615,p.A205T	retained_intron, protein_coding, processed_transcript	uc001oup.1	nonsynonymous SNV	exon7	c.G694A	p.A232T	SAFGAGFCTTVIASPVDVVKTRYMN	SAFGAGFCTTVITSPVDVVKTRYMN	9.0	9.0	-	-	3942_11:73686657-73686657 C>T_SAFGAGFCTTVITSPVDVVKTRYMN
2:43452393-43452393 G>A	1.0	3942	RECTAL	-	-	-	-	ZFP36L2	NM_006887,p.R184C|ENST00000282388,p.R184C|uc002rsv.4,p.R184C	protein_coding	uc002rsv.4	nonsynonymous SNV	exon2	c.C550T	p.R184C	EKCQFAHGFHELRSLTRHPKYKTEL	EKCQFAHGFHELCSLTRHPKYKTEL	10.0	5.0	-	-	3942_2:43452393-43452393 G>A_EKCQFAHGFHELCSLTRHPKYKTEL
17:72745135-72745135 G>C	1.0	3942	RECTAL	-	-	-	-	SLC9A3R1	NM_004252,p.K50N|ENST00000583369,p.K50N|ENST00000262613,p.K50N|uc002jlo.4,p.K50N	retained_intron, protein_coding, nonsense_mediated_decay	uc002jlo.4	nonsynonymous SNV	exon1	c.G150C	p.K50N	YIRLVEPGSPAEKAGLLAGDRLVEV	YIRLVEPGSPAENAGLLAGDRLVEV	9.0	10.0	-	-	3942_17:72745135-72745135 G>C_YIRLVEPGSPAENAGLLAGDRLVEV
6:168710885-168710885 ->T	1.0	3942	RECTAL	-	-	-	-	DACT2	ENST00000366796,p.Q207fs|NM_001286351,p.Q207fs	protein_coding	NM_001286351	frameshift insertion	exon3	c.620dupA	p.Q207fs	GARPPGSVEDAGQPWGTFWPRPVST	GARPPGSVEDAGQAVGHILAQACVYRAVQCSR	5.0	7.0	unscreened	-	3942_6:168710885-168710885 ->T_GARPPGSVEDAGQAVGHILAQACVYRAVQCSR
16:75665687-75665687 C>G	1.0	3942	RECTAL	-	-	-	-	KARS	ENST00000319410,p.D356H|uc002feq.3,p.D328H|ENST00000302445,p.D328H|NM_005548,p.D328H|uc002fer.3,p.D356H|NM_001130089,p.D356H	retained_intron, protein_coding, nonsense_mediated_decay	uc002fer.3	nonsynonymous SNV	exon9	c.G1066C	p.D356H	YEIGRQFRNEGIDLTHNPEFTTCEF	YEIGRQFRNEGIHLTHNPEFTTCEF	10.0	5.0	CD8	-	3942_16:75665687-75665687 C>G_YEIGRQFRNEGIHLTHNPEFTTCEF
20:34542064-34542064 G>A	1.0	3942	RECTAL	-	-	-	-	SCAND1	uc002xeo.3,p.P48L|NM_016558,p.P48L|uc002xen.2,p.P111L|NM_033630,p.P111L|ENST00000373991,p.P48L|uc002xep.3,p.P48L|ENST00000305978,p.P48L|uc021wct.1,p.P48L	protein_coding	uc021wct.1	nonsynonymous SNV	exon3	c.C143T	p.P48L	VGSSLPEASPPAPEPSSPNAAVPEA	VGSSLPEASPPALEPSSPNAAVPEA	10.0	1.0	-	-	3942_20:34542064-34542064 G>A_VGSSLPEASPPALEPSSPNAAVPEA
9:111693409-111693409 T>A	0.0	3942	RECTAL	-	-	-	-	IKBKAP	ENST00000374647,p.L6F|uc004bdm.4,p.L6F|NM_003640,p.L6F	protein_coding, processed_transcript, nonsense_mediated_decay	uc004bdm.4	nonsynonymous SNV	exon2	c.A18T	p.L6F	MRNLKLFRTLEFRDIQGP	MRNLKFFRTLEFRDIQGP	7.0	9.0	-	-	3942_9:111693409-111693409 T>A_MRNLKFFRTLEFRDIQGP
7:100463995-100463995 A>G	1.0	3942	RECTAL	-	-	-	-	SLC12A9	uc003uwv.3,p.N369S|uc003uwr.3,p.N574S|ENST00000354161,p.N838S|NM_020246,p.N838S|uc003uwt.3,p.N574S|uc011kki.2,p.N369S|uc003uws.3,p.N369S|uc003uwp.4,p.N838S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kki.2	nonsynonymous SNV	exon9	c.A1106G	p.N369S	GDAEAEALARSANALVRAQQGRGTG	GDAEAEALARSASALVRAQQGRGTG	9.0	3.0	-	-	3942_7:100463995-100463995 A>G_GDAEAEALARSASALVRAQQGRGTG
1:93309023-93309023 G>T	1.0	3942	RECTAL	-	-	-	-	FAM69A	uc021opu.1,p.Q377K|uc010otg.2,p.Q395K|NM_001252270,p.Q343K|NM_001006605,p.Q402K|ENST00000370310,p.Q402K|NM_001252271,p.Q377K|uc021opw.1,p.Q343K|uc021opv.1,p.Q357K|uc001dpg.3,p.Q402K|NM_001252269,p.Q357K	protein_coding	uc021opw.1	nonsynonymous SNV	exon4	c.C1027A	p.Q343K	LYSCIALKVTANQMEMEHSLILNNL	LYSCIALKVTANKMEMEHSLILNNL	5.0	10.0	-	-	3942_1:93309023-93309023 G>T_LYSCIALKVTANKMEMEHSLILNNL
6:137522067-137522067 T>C	1.0	3942	RECTAL	-	-	-	-	IFNGR1	uc003qho.2,p.K271R|ENST00000367739,p.K271R|NM_000416,p.K271R|ENST00000543628,p.K243R|uc011edm.1,p.K243R	protein_coding, processed_transcript	uc011edm.1	nonsynonymous SNV	exon6	c.A728G	p.K243R	LVLSLVFICFYIKKINPLKEKSIIL	LVLSLVFICFYIRKINPLKEKSIIL	9.0	3.0	-	-	3942_6:137522067-137522067 T>C_LVLSLVFICFYIRKINPLKEKSIIL
13:24334316-24334316 G>C	1.0	3942	RECTAL	-	-	-	-	MIPEP	ENST00000433710,p.L28V	protein_coding, processed_transcript	ENST00000433710	nonsynonymous SNV	exon2	c.C82G	p.L28V	GSCDSATSWGMVLDITLTSCPERSP	GSCDSATSWGMVVDITLTSCPERSP	9.0	1.0	-	-	3942_13:24334316-24334316 G>C_GSCDSATSWGMVVDITLTSCPERSP
8:22476427-22476427 G>C	1.0	3942	RECTAL	-	-	-	-	CCAR2	uc003xci.3,p.G807A|ENST00000308511,p.G807A|NM_021174,p.G807A|uc003xcj.1,p.G476A|ENST00000389279,p.G807A|ENST00000520861,p.G482A|uc003xch.3,p.G807A	retained_intron, protein_coding	uc003xcj.1	nonsynonymous SNV	exon16	c.G1427C	p.G476A	APTEHKALVSHNGSLINVGSLLQRA	APTEHKALVSHNASLINVGSLLQRA	10.0	8.0	-	-	3942_8:22476427-22476427 G>C_APTEHKALVSHNASLINVGSLLQRA
22:19343376-19343376 G>A	1.0	3942	RECTAL	-	-	-	-	HIRA	uc002zpf.1,p.T823M|uc010gro.2,p.T779M|uc011agx.1,p.T689M|uc010grn.1,p.T616M|ENST00000340170,p.T616M|ENST00000263208,p.T823M|ENST00000541063,p.T779M|NM_003325,p.T823M	protein_coding, processed_transcript, nonsense_mediated_decay	uc011agx.1	nonsynonymous SNV	exon23	c.C2066T	p.T689M	ESLHSILAGSDMTVSQILLTQHGIP	ESLHSILAGSDMMVSQILLTQHGIP	7.0	10.0	-	-	3942_22:19343376-19343376 G>A_ESLHSILAGSDMMVSQILLTQHGIP
15:102226244-102226244 A>T	1.0	3942	RECTAL	-	-	-	-	TARSL2	NM_152334,p.F448I|uc002bxm.3,p.F448I|ENST00000335968,p.F448I|ENST00000539112,p.F448I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bxm.3	nonsynonymous SNV	exon11	c.T1342A	p.F448I	TDFIREEYHKRDFTEVLSPNMYNSK	TDFIREEYHKRDITEVLSPNMYNSK	5.0	9.0	-	-	3942_15:102226244-102226244 A>T_TDFIREEYHKRDITEVLSPNMYNSK
12:6926489-6926489 C>A	0.0	3942	RECTAL	-	-	-	-	CD4	uc010sfj.2,p.N110K|uc001qqv.2,p.N383K|ENST00000011653,p.N383K|uc010sfl.2,p.N110K|NM_001195016,p.N110K|uc010sfk.2,p.N110K|NM_001195014,p.N204K|uc009zfc.2,p.N204K|NM_001195015,p.N110K|uc010sfm.1,p.N110K|NM_001195017,p.N110K|NM_000616,p.N383K	retained_intron, protein_coding, processed_transcript	uc010sfm.1	nonsynonymous SNV	exon4	c.C330A	p.N110K	LLSDSGQVLLESNIKVLPTWSTPVQ	LLSDSGQVLLESKIKVLPTWSTPVQ	6.0	4.0	-	-	3942_12:6926489-6926489 C>A_LLSDSGQVLLESKIKVLPTWSTPVQ
12:43846171-43846171 C>G	0.0	3942	RECTAL	-	-	-	-	ADAMTS20	ENST00000553158,p.G662A|ENST00000389420,p.G662A|NM_025003,p.G662A|uc010skx.2,p.G662A	protein_coding	uc010skx.2	nonsynonymous SNV	exon14	c.G1985C	p.G662A	TKDRCKLYCQVAGTNYFYLLKDMVE	TKDRCKLYCQVAATNYFYLLKDMVE	1.0	1.0	-	-	3942_12:43846171-43846171 C>G_TKDRCKLYCQVAATNYFYLLKDMVE
9:74860084-74860084 A>T	0.0	3942	RECTAL	-	-	-	-	GDA	ENST00000475764,p.I386F|uc011lse.2,p.I312F|uc011lsf.2,p.I312F|NM_001242507,p.I312F|NM_001242506,p.I312F|ENST00000436438,p.I94F|uc004ais.3,p.I308F|ENST00000376989,p.I325F|ENST00000545168,p.I312F|uc004aiq.3,p.I386F|ENST00000358399,p.I386F|ENST00000376986,p.I308F|ENST00000238018,p.I386F|uc004air.3,p.I386F|NM_004293,p.I386F|NM_001242505,p.I386F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lsf.2	nonsynonymous SNV	exon13	c.A934T	p.I312F	LGGSQALGLDGEIGNFEVGKEFDAI	LGGSQALGLDGEFGNFEVGKEFDAI	6.0	3.0	unscreened	-	3942_9:74860084-74860084 A>T_LGGSQALGLDGEFGNFEVGKEFDAI
1:237755136-237755136 T>A	0.0	3942	RECTAL	-	-	-	-	RYR2	ENST00000360064,p.L1418M|ENST00000542537,p.L1404M|ENST00000366574,p.L1420M|NM_001035,p.L1420M|uc001hyl.1,p.L1420M	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon32	c.T4258A	p.L1420M	DVLADDRDDYDFLMQTSTYYYSVRI	DVLADDRDDYDFMMQTSTYYYSVRI	4.0	6.0	-	-	3942_1:237755136-237755136 T>A_DVLADDRDDYDFMMQTSTYYYSVRI
1:151263446-151263448 AAG>-	1.0	3942	RECTAL	-	-	-	-	ZNF687	uc001exq.3,p.1159_1159del|ENST00000324048,p.1159_1159del|NM_020832,p.1159_1159del|uc009wmo.3,p.1159_1159del|ENST00000336715,p.1159_1159del	retained_intron, protein_coding, nonsense_mediated_decay	uc009wmo.3	nonframeshift deletion	exon10	c.3475_3477del	p.1159_1159del	PGSLSRHRFISHKKRRGVGKASALG	PGSLSRHRFISHKRRGVGKASALGL	8.0	4.0	unscreened	-	3942_1:151263446-151263448 AAG>-_PGSLSRHRFISHKRRGVGKASALGL
6:30712216-30712216 G>A	1.0	3942	RECTAL	-	-	-	-	IER3	uc003nrn.3,p.P27L|ENST00000259874,p.P27L|ENST00000376377,p.P27L|NM_003897,p.P27L	protein_coding	uc003nrn.3	nonsynonymous SNV	exon1	c.C80T	p.P27L	QAPTPAPSTIPGPRRGSGPEIFTFD	QAPTPAPSTIPGLRRGSGPEIFTFD	10.0	9.0	-	-	3942_6:30712216-30712216 G>A_QAPTPAPSTIPGLRRGSGPEIFTFD
10:6019493-6019493 C>A	0.0	3942	RECTAL	-	-	-	-	IL15RA	NM_001256765,p.R23L|uc021pmp.1,p.R23L|uc021pmo.1,p.R23L	protein_coding, processed_transcript	uc021pmp.1	nonsynonymous SNV	exon1	c.G68T	p.R23L	QRSPPPPGLGSARPGSPAVSCGAAA	QRSPPPPGLGSALPGSPAVSCGAAA	8.0	9.0	unscreened	-	3942_10:6019493-6019493 C>A_QRSPPPPGLGSALPGSPAVSCGAAA
2:3200774-3200774 C>T	1.0	3942	RECTAL	-	-	ID=COSM3839407;OCCURENCE=1(breast)	-	TSSC1	ENST00000435721,p.R125H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000435721	nonsynonymous SNV	exon5	c.G374A	p.R125H	RKARARLCWPAQRPWKGRDN	RKARARLCWPAQHPWKGRDN	9.0	8.0	unscreened	-	3942_2:3200774-3200774 C>T_RKARARLCWPAQHPWKGRDN
7:98771403-98771403 G>C	1.0	3942	RECTAL	-	-	-	-	KPNA7	ENST00000327442,p.S493R|NM_001145715,p.S493R|uc010lft.2,p.S493R	protein_coding	uc010lft.2	nonsynonymous SNV	exon10	c.C1479G	p.S493R	IIEKHFGEEEDESQTLLSQVIDQDY	IIEKHFGEEEDERQTLLSQVIDQDY	5.0	7.0	-	-	3942_7:98771403-98771403 G>C_IIEKHFGEEEDERQTLLSQVIDQDY
18:54358516-54358516 G>T	0.0	3942	RECTAL	-	-	-	-	WDR7	ENST00000254442,p.G263W|NM_015285,p.G263W|NM_052834,p.G263W|uc002lgk.1,p.G263W|ENST00000357574,p.G263W|uc002lgl.1,p.G263W	retained_intron, protein_coding, nonsense_mediated_decay	uc002lgl.1	nonsynonymous SNV	exon8	c.G787T	p.G263W	SGPSENGQTWTGGDFVSSDKVIIWT	SGPSENGQTWTGWDFVSSDKVIIWT	3.0	9.0	-	-	3942_18:54358516-54358516 G>T_SGPSENGQTWTGWDFVSSDKVIIWT
1:145075792-145075792 C>A	0.0	3942	RECTAL	-	-	-	1	PDE4DIP	ENST00000369348,p.R24L|ENST00000526359,p.R24L|uc001emk.4,p.R24L|ENST00000369345,p.R24L|NM_022359,p.R24L|uc001elo.3,p.R24L|ENST00000528661,p.R24L|uc001emh.3,p.R24L|ENST00000369359,p.R24L|ENST00000530740,p.R24L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001emk.4	nonsynonymous SNV	exon1	c.G71T	p.R24L	RRCDFGCCCRASRRAHYTPYRSGDA	RRCDFGCCCRASLRAHYTPYRSGDA	7.0	1.0	-	-	3942_1:145075792-145075792 C>A_RRCDFGCCCRASLRAHYTPYRSGDA
X:135126644-135126644 C>T	0.0	3942	RECTAL	-	-	-	-	SLC9A6	uc004ezk.3,p.L623F|uc004ezj.3,p.L591F|NM_001177651,p.L571F|uc011mvx.2,p.L571F|NM_006359,p.L591F|NM_001042537,p.L623F|ENST00000370698,p.L591F|ENST00000370695,p.L623F|ENST00000370701,p.L571F	protein_coding	uc011mvx.2	nonsynonymous SNV	exon17	c.C1711T	p.L571F	ENQEQLKDDDSDLILNDGDISLTYG	ENQEQLKDDDSDFILNDGDISLTYG	5.0	4.0	-	-	3942_X:135126644-135126644 C>T_ENQEQLKDDDSDFILNDGDISLTYG
4:186515043-186515043 T>A	0.0	3942	RECTAL	-	-	-	-	SORBS2	NM_001145672,p.E605V|ENST00000449407,p.E588V|NM_001145675,p.E436V|ENST00000284776,p.E1044V|uc003iyk.3,p.E588V|NM_021069,p.E1044V|uc003iyi.4,p.E675V|ENST00000448662,p.E605V|uc011ckx.2,p.E610V|uc011ckv.2,p.E948V|ENST00000431808,p.E1044V|uc003iyc.3,p.E497V|ENST00000418609,p.E948V|uc003iyb.3,p.E517V|NM_001145673,p.E768V|ENST00000437304,p.E768V|uc003iye.3,p.E617V|uc011ckw.2,p.E605V|uc003iyg.3,p.E1158V|ENST00000319471,p.E675V|uc003iym.3,p.E1144V|uc003iyh.3,p.E768V|NM_001145670,p.E588V|uc003iyd.3,p.E743V|NM_001145674,p.E948V|uc003iya.3,p.E564V|ENST00000355634,p.E1144V|ENST00000393528,p.E610V|NM_001145671,p.E675V|uc011cku.2,p.E436V|NM_003603,p.E610V|uc003iyl.3,p.E1044V|uc003iyn.1,p.E635V|uc003iyf.3,p.E580V|NM_001270771,p.E1144V	retained_intron, protein_coding, processed_transcript	uc011ckx.2	nonsynonymous SNV	exon21	c.A1829T	p.E610V	PVFTHENIQGGGEPFQALYNYTPRN	PVFTHENIQGGGVPFQALYNYTPRN	5.0	10.0	-	-	3942_4:186515043-186515043 T>A_PVFTHENIQGGGVPFQALYNYTPRN
9:35396874-35396874 G>C	0.0	3942	RECTAL	-	-	-	-	UNC13B	ENST00000378496,p.E1075D|ENST00000378495,p.E1075D|ENST00000396787,p.E1087D|uc003zwq.3,p.E1075D|uc003zwr.3,p.E1075D|NM_006377,p.E1075D	protein_coding, processed_transcript	uc003zwr.3	nonsynonymous SNV	exon27	c.G3225C	p.E1075D	AWFEQFVLQWLDENEDVSLEFLRGA	AWFEQFVLQWLDDNEDVSLEFLRGA	7.0	3.0	-	-	3942_9:35396874-35396874 G>C_AWFEQFVLQWLDDNEDVSLEFLRGA
8:71646441-71646441 T>A	1.0	3942	RECTAL	-	-	-	-	XKR9	uc010lze.3,p.L302M|uc003xyq.3,p.L302M|uc010lzd.3,p.L170M|NM_001287259,p.L302M|ENST00000520030,p.L302M|NM_001287260,p.L302M|ENST00000408926,p.L302M|NM_001011720,p.L302M|NM_001287258,p.L170M	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lze.3	nonsynonymous SNV	exon6	c.T904A	p.L302M	YYIVRVLGTLGILTVFWVCPLTIFN	YYIVRVLGTLGIMTVFWVCPLTIFN	4.0	4.0	-	-	3942_8:71646441-71646441 T>A_YYIVRVLGTLGIMTVFWVCPLTIFN
18:8244171-8244171 T>G	0.0	3942	RECTAL	-	-	-	-	PTPRM	uc002knn.4,p.F806V|ENST00000400053,p.F744V|ENST00000400060,p.F806V|ENST00000444013,p.F593V|ENST00000580170,p.F806V|NM_002845,p.F806V|ENST00000577468,p.F159V|NM_001105244,p.F806V|uc010dkv.3,p.F806V|uc010wzl.2,p.F593V|ENST00000332175,p.F806V	retained_intron, protein_coding, processed_transcript	uc010wzl.2	nonsynonymous SNV	exon11	c.T1777G	p.F593V	SYAEQGTNCDEAFSFMDTHNLNGRS	SYAEQGTNCDEAVSFMDTHNLNGRS	6.0	10.0	-	-	3942_18:8244171-8244171 T>G_SYAEQGTNCDEAVSFMDTHNLNGRS
17:21730892-21730892 C>T	0.0	3942	RECTAL	-	-	-	-	C17orf51,FAM27L	ENST00000581769,p.S65L|ENST00000578713,p.S65L|ENST00000584755,p.S65L|uc002gyy.3,p.S65L	protein_coding	uc002gyy.3	nonsynonymous SNV	exon2	c.C194T	p.S65L	GRSLSDYNIQKESTLHLVLRRRGGM	GRSLSDYNIQKELTLHLVLRRRGGM	4.0	10.0	unscreened	-	3942_17:21730892-21730892 C>T_GRSLSDYNIQKELTLHLVLRRRGGM
3:184056250-184056250 C>T	0.0	3942	RECTAL	-	-	-	-	FAM131A	uc003foe.3,p.A55V|NM_144635,p.A55V|uc003fod.2,p.A55V|ENST00000383847,p.A55V	protein_coding, processed_transcript	uc003foe.3	nonsynonymous SNV	exon2	c.C164T	p.A55V	LPRGLSLSSLGSARTLRGWSRSSRP	LPRGLSLSSLGSVRTLRGWSRSSRP	7.0	6.0	-	-	3942_3:184056250-184056250 C>T_LPRGLSLSSLGSVRTLRGWSRSSRP
13:107211961-107211961 G>A	1.0	3942	RECTAL	-	-	-	-	ARGLU1	NM_018011,p.A131V|ENST00000400198,p.A131V|uc001vqk.4,p.A131V	protein_coding, processed_transcript	uc001vqk.4	nonsynonymous SNV	exon2	c.C392T	p.A131V	QEIEEKLIEEETARRVEELVAKRVE	QEIEEKLIEEETVRRVEELVAKRVE	10.0	3.0	unscreened	-	3942_13:107211961-107211961 G>A_QEIEEKLIEEETVRRVEELVAKRVE
11:66260343-66260343 C>T	1.0	3942	RECTAL	-	-	-	-	DPP3	ENST00000541961,p.A382V|ENST00000530165,p.A352V|uc001oig.2,p.A382V|uc010rpe.2,p.A352V|NM_130443,p.A382V|ENST00000532677,p.A401V|ENST00000453114,p.A382V|NM_001256670,p.A352V|NM_005700,p.A382V|ENST00000531863,p.A402V|ENST00000360510,p.A382V|uc001oif.2,p.A382V	retained_intron, protein_coding, processed_transcript	uc010rpe.2	nonsynonymous SNV	exon9	c.C1055T	p.A352V	TPDFTSLDVLTFAGSGIPAGINIPN	TPDFTSLDVLTFVGSGIPAGINIPN	10.0	6.0	-	-	3942_11:66260343-66260343 C>T_TPDFTSLDVLTFVGSGIPAGINIPN
3:87313470-87313470 G>C	0.0	3942	RECTAL	-	-	-	-	POU1F1	uc010hoj.1,p.A162G|uc003dqq.1,p.A136G|NM_001122757,p.A162G|NM_000306,p.A136G|ENST00000344265,p.A162G|ENST00000350375,p.A136G	protein_coding	uc010hoj.1	nonsynonymous SNV	exon3	c.C485G	p.A162G	MDSPEIRELEKFANEFKVRRIKLGY	MDSPEIRELEKFGNEFKVRRIKLGY	1.0	9.0	-	-	3942_3:87313470-87313470 G>C_MDSPEIRELEKFGNEFKVRRIKLGY
12:25398281-25398281 C>T	0.0	3942	RECTAL	-	-	ID=COSM1140132,COSM532;OCCURENCE=103(haematopoietic_and_lymphoid_tissue),2(pleura),5(cervix),17(gastrointestinal_tract_(site_indeterminate)),2(peritoneum),118(lung),23(thyroid),1(bone),4(upper_aerodigestive_tract),3(oesophagus),1(central_nervous_system),43(stomach),29(pancreas),3(liver),5(urinary_tract),1(genital_tract),3337(large_intestine),21(biliary_tract),23(prostate),17(breast),3(skin),19(small_intestine),50(endometrium),35(ovary),36(soft_tissue)	1	KRAS	ENST00000557334,p.G13D|ENST00000311936,p.G13D|NM_004985,p.G13D|uc001rgp.1,p.G13D|ENST00000556131,p.G13D|uc001rgq.1,p.G13D|NM_033360,p.G13D|ENST00000256078,p.G13D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G38A	p.G13D	MTEYKLVVVGAGGVGKSALTIQLIQ	MTEYKLVVVGAGDVGKSALTIQLIQ	6.0	2.0	-	-	3942_12:25398281-25398281 C>T_MTEYKLVVVGAGDVGKSALTIQLIQ
2:203914640-203914640 G>C	0.0	3942	RECTAL	-	-	-	-	NBEAL1	ENST00000449802,p.E83Q|NM_001114132,p.E83Q|uc002uzq.3,p.E83Q|uc010zid.1,p.E32Q|uc002uzt.3,p.E83Q	retained_intron, protein_coding, processed_transcript	uc010zid.1	nonsynonymous SNV	exon4	c.G94C	p.E32Q	LLQCVQKMADGLEEQQQALSILLVK	LLQCVQKMADGLQEQQQALSILLVK	6.0	3.0	-	-	3942_2:203914640-203914640 G>C_LLQCVQKMADGLQEQQQALSILLVK
13:24797039-24797039 G>T	0.0	3942	RECTAL	-	-	-	-	SPATA13	NM_001286792,p.R53L|uc001upd.3,p.R53L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001upd.3	nonsynonymous SNV	exon4	c.G158T	p.R53L	QDGIPGDEGLELRSADSAVPVAMTQ	QDGIPGDEGLELLSADSAVPVAMTQ	6.0	1.0	unscreened	-	3942_13:24797039-24797039 G>T_QDGIPGDEGLELLSADSAVPVAMTQ
6:88315643-88315643 G>A	0.0	3942	RECTAL	-	-	-	-	ORC3	uc003pmh.3,p.V111I|uc003pmg.3,p.V111I|NM_012381,p.V111I|uc011dzm.2,p.V111I|ENST00000417380,p.V58I|ENST00000257789,p.V111I|NM_181837,p.V111I|ENST00000392844,p.V111I|uc011dzl.2,p.V111I	protein_coding, processed_transcript	uc011dzm.2	nonsynonymous SNV	exon5	c.G331A	p.V111I	EIPTAALVLGVNVTDHDLTFGSLTE	EIPTAALVLGVNITDHDLTFGSLTE	8.0	1.0	-	-	3942_6:88315643-88315643 G>A_EIPTAALVLGVNITDHDLTFGSLTE
1:228528288-228528288 G>T	0.0	3942	RECTAL	-	-	-	-	OBSCN	uc001hsq.2,p.V6790L|ENST00000284548,p.V5833L|uc001hsr.1,p.V462L|NM_001271223,p.V6790L|NM_052843,p.V5833L|NM_001098623,p.V5833L|ENST00000422127,p.V5833L|uc009xez.2,p.V5833L|uc001hsn.4,p.V5833L|ENST00000570156,p.V6790L|ENST00000366709,p.V2952L|ENST00000366707,p.V3467L	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon71	c.G17497T	p.V5833L	PPPPLQHYLEQPVERVQRYQALLKE	PPPPLQHYLEQPLERVQRYQALLKE	5.0	7.0	-	-	3942_1:228528288-228528288 G>T_PPPPLQHYLEQPLERVQRYQALLKE
3:87313470-87313470 G>C	0.0	3942	RECTAL	-	-	-	-	POU1F1	ENST00000560656,p.A136G	protein_coding	ENST00000560656	nonsynonymous SNV	exon3	c.C407G	p.A136G	MDSPEIRELEKFANEFKVRRIKLAL	MDSPEIRELEKFGNEFKVRRIKLAL	1.0	9.0	-	-	3942_3:87313470-87313470 G>C_MDSPEIRELEKFGNEFKVRRIKLAL
7:6080633-6080633 A>T	1.0	3942	RECTAL	-	-	-	-	EIF2AK1	NM_001134335,p.S336T|NM_014413,p.S337T|ENST00000199389,p.S337T|uc011jwm.1,p.S213T|ENST00000536084,p.S213T|uc003spr.1,p.S129T|uc003spq.3,p.S336T|uc003spp.3,p.S337T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jwm.1	nonsynonymous SNV	exon8	c.T637A	p.S213T	LQENGLAGLSASSIVEQQLPLRRNS	LQENGLAGLSASTIVEQQLPLRRNS	9.0	6.0	-	-	3942_7:6080633-6080633 A>T_LQENGLAGLSASTIVEQQLPLRRNS
16:4311936-4311936 C>T	1.0	3942	RECTAL	-	-	-	-	TFAP4	ENST00000573476,p.V135I	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000573476	nonsynonymous SNV	exon5	c.G403A	p.V135I	TAQALHPGAERLVPQATAGRGQGRR	TAQALHPGAERLIPQATAGRGQGRR	8.0	7.0	unscreened	-	3942_16:4311936-4311936 C>T_TAQALHPGAERLIPQATAGRGQGRR
16:115001-115001 G>A	1.0	3942	RECTAL	-	-	-	-	RHBDF1	ENST00000419764,p.R5C|uc010uty.2,p.R5C|uc010utz.2,p.R5C|ENST00000454039,p.R5C|ENST00000262316,p.R5C|ENST00000450643,p.R5C|ENST00000428730,p.R5C|ENST00000417043,p.R5C|NM_022450,p.R5C|uc002cfl.4,p.R5C	retained_intron, protein_coding, nonsense_mediated_decay	uc010utz.2	nonsynonymous SNV	exon2	c.C13T	p.R5C	MSEARRDSTSSLQRKKP	MSEACRDSTSSLQRKKP	9.0	6.0	-	-	3942_16:115001-115001 G>A_MSEACRDSTSSLQRKKP
2:70315174-70315174 T>A	1.0	3942	RECTAL	-	-	ID=COSM287208;OCCURENCE=9(large_intestine)	2	PCBP1	NM_006196,p.L100Q|ENST00000303577,p.L100Q|uc002sgf.3,p.L100Q	protein_coding	uc002sgf.3	nonsynonymous SNV	exon1	c.T299A	p.L100Q	TNSTAASRPPVTLRLVVPATQCGSL	TNSTAASRPPVTQRLVVPATQCGSL	10.0	8.0	-	-	3942_2:70315174-70315174 T>A_TNSTAASRPPVTQRLVVPATQCGSL
3:32860184-32860184 G>-	0.0	3942	RECTAL	-	-	-	-	TRIM71	uc003cff.3,p.E204fs|ENST00000383763,p.E204fs|NM_001039111,p.E204fs	protein_coding	uc003cff.3	frameshift deletion	exon1	c.612delG	p.E204fs	LLRRPHGCSSCDEGNAASSRCLDCQ	LLRRPHGCSSCDEATQLLRAASTARSTCATTASERTSACASPRTTTSSAARRVPVPQQRRSSSGSGRPFPARPSPSSQCFPSASASASTTTTRCCTCTVTLALYPSVVSAQWAGMGATASSTSRRHCRTHGHSPSSCWQMPSRDDRQSS	1.0	1.0	unscreened	-	3942_3:32860184-32860184 G>-_LLRRPHGCSSCDEATQLLRAASTARSTCATTASERTSACASPRTTTSSAARRVPVPQQRRSSSGSGRPFPARPSPSSQCFPSASASASTTTTRCCTCTVTLALYPSVVSAQWAGMGATASSTSRRHCRTHGHSPSSCWQMPSRDDRQSS
3:78710387-78710387 G>T	0.0	3942	RECTAL	-	-	-	-	ROBO1	NM_002941,p.Q705K|ENST00000495273,p.Q669K|NM_133631,p.Q669K|uc003dqf.1,p.Q384K|ENST00000464233,p.Q705K|ENST00000436010,p.Q666K|uc003dqc.2,p.Q669K|uc003dqd.2,p.Q669K|NM_001145845,p.Q669K|ENST00000467549,p.Q669K|uc003dqe.2,p.Q705K|uc011bgl.1,p.Q277K|uc003dqb.2,p.Q666K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bgl.1	nonsynonymous SNV	exon6	c.C829A	p.Q277K	VHWTVDQQSQYIQGYKILYRPSGAN	VHWTVDQQSQYIKGYKILYRPSGAN	4.0	8.0	-	-	3942_3:78710387-78710387 G>T_VHWTVDQQSQYIKGYKILYRPSGAN
16:3807296-3807317 GATAGCTGTAGTAGGCAGCATC>-	0.0	3942	RECTAL	-	-	-	1	CREBBP	ENST00000262367,p.D1224fs|NM_001079846,p.D1186fs|uc002cvw.3,p.D1186fs|ENST00000382070,p.D1186fs|uc002cvv.3,p.D1224fs|NM_004380,p.D1224fs	retained_intron, protein_coding	uc002cvw.3	frameshift deletion	exon18	c.3556_3577del	p.D1186fs	CCYGKQLCTIPRDAAYYSYQNRYHF	CCYGKQLCTIPRRIGIISVRSVSQRSRARM	6.0	1.0	unscreened	-	3942_16:3807296-3807317 GATAGCTGTAGTAGGCAGCATC>-_CCYGKQLCTIPRRIGIISVRSVSQRSRARM
14:72152333-72152333 G>A	1.0	3942	RECTAL	-	-	ID=COSM957474;OCCURENCE=1(endometrium)	-	SIPA1L1	uc001xms.3,p.R1120H|uc001xmu.3,p.R1120H|uc001xmv.3,p.R1120H|NM_015556,p.R1120H|NM_001284246,p.R1120H|uc010ttm.2,p.R595H|ENST00000537413,p.R595H|ENST00000358550,p.R1120H|NM_001284245,p.R1120H|ENST00000555818,p.R1120H|ENST00000381232,p.R1120H|uc001xmt.3,p.R1120H|NM_001284247,p.R1120H	retained_intron, protein_coding, processed_transcript	uc010ttm.2	nonsynonymous SNV	exon9	c.G1784A	p.R595H	AANIPRSISSDGRPLERRLSPGSDI	AANIPRSISSDGHPLERRLSPGSDI	9.0	8.0	-	-	3942_14:72152333-72152333 G>A_AANIPRSISSDGHPLERRLSPGSDI
3:154145427-154145427 G>A	0.0	3942	RECTAL	-	-	-	-	GPR149	ENST00000389740,p.T351I|uc003faa.3,p.T351I|NM_001038705,p.T351I	protein_coding	uc003faa.3	nonsynonymous SNV	exon2	c.C1052T	p.T351I	QSLPLETFSFLLTLLATTVTPVFVL	QSLPLETFSFLLILLATTVTPVFVL	1.0	10.0	-	-	3942_3:154145427-154145427 G>A_QSLPLETFSFLLILLATTVTPVFVL
6:73751677-73751677 G>A	0.0	3942	RECTAL	-	-	ID=COSM3777830,COSM3777831,COSM3777829;OCCURENCE=1(urinary_tract)	-	KCNQ5	uc011dyi.2,p.V170I|uc011dyj.2,p.V170I|ENST00000355635,p.V170I|uc011dyh.2,p.V170I|uc010kat.3,p.V170I|NM_019842,p.V170I|ENST00000342056,p.V170I|ENST00000402622,p.V170I|uc003pgk.3,p.V170I|ENST00000370398,p.V170I|ENST00000403813,p.V170I|ENST00000370392,p.V170I|NM_001160133,p.V170I|NM_001160132,p.V170I|NM_001160134,p.V170I|NM_001160130,p.V170I|ENST00000355194,p.V170I|uc003pgj.4,p.V170I|ENST00000414165,p.V170I	protein_coding	uc011dyj.2	nonsynonymous SNV	exon3	c.G508A	p.V170I	SCLLILEFVMIVVFGLEFIIRIWSA	SCLLILEFVMIVIFGLEFIIRIWSA	1.0	9.0	-	-	3942_6:73751677-73751677 G>A_SCLLILEFVMIVIFGLEFIIRIWSA
6:49700922-49700922 G>C	0.0	3942	RECTAL	-	-	-	-	CRISP3	ENST00000433368,p.C192W|ENST00000263045,p.C182W|ENST00000393666,p.C169W|ENST00000423399,p.C79W|NM_001190986,p.C192W|NM_006061,p.C182W|ENST00000371159,p.C200W|uc021zai.1,p.C192W|uc003ozs.3,p.C182W	protein_coding	uc021zai.1	nonsynonymous SNV	exon6	c.C576G	p.C192W	CPNQKVLKYYYVCQYCPAGNWANRL	CPNQKVLKYYYVWQYCPAGNWANRL	1.0	8.0	-	-	3942_6:49700922-49700922 G>C_CPNQKVLKYYYVWQYCPAGNWANRL
19:12864117-12864117 G>C	0.0	3942	RECTAL	-	-	-	-	BEST2	ENST00000042931,p.V66L|ENST00000549706,p.V66L|NM_017682,p.V66L|uc002mux.3,p.V66L|ENST00000553030,p.V66L	protein_coding	uc002mux.3	nonsynonymous SNV	exon2	c.G196C	p.V66L	LTEGQKRYFEKLVIYCDQYASLIPV	LTEGQKRYFEKLLIYCDQYASLIPV	1.0	4.0	-	-	3942_19:12864117-12864117 G>C_LTEGQKRYFEKLLIYCDQYASLIPV
13:107211962-107211962 C>A	1.0	3942	RECTAL	-	-	-	-	ARGLU1	uc001vqk.4,p.A131S|ENST00000400198,p.A131S|NM_018011,p.A131S	protein_coding, processed_transcript	uc001vqk.4	nonsynonymous SNV	exon2	c.G391T	p.A131S	QEIEEKLIEEETARRVEELVAKRVE	QEIEEKLIEEETSRRVEELVAKRVE	10.0	3.0	unscreened	-	3942_13:107211962-107211962 C>A_QEIEEKLIEEETSRRVEELVAKRVE
11:62295355-62295355 G>C	1.0	3942	RECTAL	-	-	-	-	AHNAK	uc001ntl.3,p.H2178Q|ENST00000378024,p.H2178Q|NM_001620,p.H2178Q	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.C6534G	p.H2178Q	KLKGPKFKMPEMHFKTPKISMPDVN	KLKGPKFKMPEMQFKTPKISMPDVN	8.0	6.0	-	-	3942_11:62295355-62295355 G>C_KLKGPKFKMPEMQFKTPKISMPDVN
17:7577121-7577121 G>A	1.0	3942	RECTAL	-	-	ID=COSM3355991,COSM10659,COSM1645518,COSM99933;OCCURENCE=34(ovary),14(endometrium),3(small_intestine),22(breast),11(skin),5(prostate),111(large_intestine),3(biliary_tract),1(genital_tract),1(adrenal_gland),14(urinary_tract),2(kidney),16(pancreas),20(liver),131(central_nervous_system),23(stomach),2(vulva),25(oesophagus),26(upper_aerodigestive_tract),9(bone),4(thyroid),1(penis),17(lung),5(cervix),25(haematopoietic_and_lymphoid_tissue)	1	TP53	NM_000546,p.R273C|NM_001276699,p.R114C|NM_001276761,p.R234C|NM_001276696,p.R234C|uc010cnf.2,p.R114C|NM_001126114,p.R273C|ENST00000420246,p.R273C|uc031qyq.1,p.R234C|NM_001126117,p.R141C|NM_001126115,p.R141C|uc002gij.3,p.R234C|NM_001276695,p.R234C|ENST00000509690,p.R141C|ENST00000269305,p.R273C|NM_001276760,p.R234C|uc010cng.2,p.R114C|NM_001126118,p.R234C|NM_001126113,p.R273C|ENST00000455263,p.R273C|NM_001126112,p.R273C|NM_001276698,p.R114C|uc002gii.2,p.R114C|NM_001276697,p.R114C|uc002gih.3,p.R273C|NM_001126116,p.R141C|ENST00000359597,p.R273C|ENST00000445888,p.R273C	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon7	c.C700T	p.R234C	SGNLLGRNSFEVRVCACPGRDRRTE	SGNLLGRNSFEVCVCACPGRDRRTE	9.0	10.0	-	-	3942_17:7577121-7577121 G>A_SGNLLGRNSFEVCVCACPGRDRRTE
2:157425447-157425447 G>A	0.0	3942	RECTAL	-	-	-	-	GPD2	ENST00000409674,p.E426K|ENST00000409125,p.E199K|ENST00000310454,p.E426K|NM_000408,p.E426K|uc002tzd.4,p.E426K|uc002tzf.4,p.E426K|ENST00000438166,p.E426K|ENST00000409861,p.E426K|uc010zch.2,p.E199K|NM_001083112,p.E426K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zch.2	nonsynonymous SNV	exon6	c.G595A	p.E199K	QSISRNHVVDISESGLITIAGGKWT	QSISRNHVVDISKSGLITIAGGKWT	7.0	4.0	-	-	3942_2:157425447-157425447 G>A_QSISRNHVVDISKSGLITIAGGKWT
17:61660887-61660887 G>A	1.0	3942	RECTAL	-	-	-	-	DCAF7	uc002jbc.4,p.A185T|NM_005828,p.A185T|ENST00000310827,p.A185T	protein_coding, processed_transcript	uc002jbc.4	nonsynonymous SNV	exon5	c.G553A	p.A185T	HDKEVYDIAFSRAGGGRDMFASVGA	HDKEVYDIAFSRTGGGRDMFASVGA	8.0	10.0	unscreened	-	3942_17:61660887-61660887 G>A_HDKEVYDIAFSRTGGGRDMFASVGA
3:77645824-77645824 A>T	0.0	3942	RECTAL	-	-	-	2	ROBO2	NM_002942,p.D926V|uc003dpy.4,p.D926V|uc011bgk.2,p.D930V|uc011bgj.3,p.D333V|uc003dqa.3,p.D53V|ENST00000602589,p.D946V|ENST00000332191,p.D926V|ENST00000461745,p.D926V|uc003dpz.3,p.D930V|NM_001290065,p.D333V|NM_001290040,p.D930V|uc021xat.1,p.D942V|NM_001290039,p.D930V|ENST00000487694,p.D942V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xat.1	nonsynonymous SNV	exon19	c.A2825T	p.D942V	LNAGDPSYPWLADSWPATSLPVNNS	LNAGDPSYPWLAVSWPATSLPVNNS	1.0	2.0	-	-	3942_3:77645824-77645824 A>T_LNAGDPSYPWLAVSWPATSLPVNNS
11:26743111-26743111 C>G	0.0	3942	RECTAL	-	-	-	-	SLC5A12	uc001mrc.4,p.G51R|ENST00000280467,p.G51R|ENST00000396005,p.G51R|uc001mra.2,p.G51R|NM_178498,p.G51R	retained_intron, protein_coding, nonsense_mediated_decay	uc001mrc.4	nonsynonymous SNV	exon1	c.G151C	p.G51R	REFLVGGRQMSFGPVGLSLTASFMS	REFLVGGRQMSFRPVGLSLTASFMS	1.0	4.0	-	-	3942_11:26743111-26743111 C>G_REFLVGGRQMSFRPVGLSLTASFMS
X:151870115-151870115 T>C	0.0	3942	RECTAL	-	-	-	-	MAGEA6	uc004ffr.1,p.Y269H|uc004ffq.1,p.Y269H|NM_175868,p.Y269H|uc022chf.1,p.Y269H|NM_005363,p.Y269H|ENST00000329342,p.Y269H	protein_coding	uc022chf.1	nonsynonymous SNV	exon1	c.T805C	p.Y269H	EYRQVPGSDPACYEFLWGPRALIET	EYRQVPGSDPACHEFLWGPRALIET	1.0	3.0	unscreened	-	3942_X:151870115-151870115 T>C_EYRQVPGSDPACHEFLWGPRALIET
7:134253072-134253072 A>T	0.0	3942	RECTAL	-	-	-	-	AKR1B15	ENST00000423958,p.S77C|uc031szd.1,p.S77C|NM_001080538,p.S105C|ENST00000457545,p.S105C|uc011kpr.2,p.S105C	retained_intron, protein_coding	uc031szd.1	nonsynonymous SNV	exon2	c.A229T	p.S77C	EKAVMREDLFIVSKVWPTFFERPLV	EKAVMREDLFIVCKVWPTFFERPLV	1.0	5.0	-	-	3942_7:134253072-134253072 A>T_EKAVMREDLFIVCKVWPTFFERPLV
7:45688282-45688282 G>A	0.0	3942	RECTAL	-	-	ID=COSM304402;OCCURENCE=1(large_intestine),1(pancreas)	-	ADCY1	NM_021116,p.R345H|NM_001281768,p.R120H|ENST00000432715,p.R120H|ENST00000297323,p.R345H|uc003tne.4,p.R345H|uc003tnd.3,p.R120H	retained_intron, protein_coding	uc003tne.4	nonsynonymous SNV	exon5	c.G1034A	p.R345H	GKFDELATENHCRRIKILGDCYYCV	GKFDELATENHCHRIKILGDCYYCV	2.0	6.0	-	-	3942_7:45688282-45688282 G>A_GKFDELATENHCHRIKILGDCYYCV
19:38056750-38056750 G>C	0.0	3942	RECTAL	-	-	-	-	ZNF571	ENST00000358744,p.P194A|NM_016536,p.P194A|uc010efp.3,p.P194A|uc002ogt.3,p.P194A|ENST00000328550,p.P194A|ENST00000593133,p.P194A|NM_001290314,p.P194A|ENST00000451802,p.P194A	protein_coding	uc010efp.3	nonsynonymous SNV	exon5	c.C580G	p.P194A	YIQHQRIQTGEKPYECMECGKAFGR	YIQHQRIQTGEKAYECMECGKAFGR	4.0	10.0	-	-	3942_19:38056750-38056750 G>C_YIQHQRIQTGEKAYECMECGKAFGR
X:3239369-3239369 T>G	0.0	3942	RECTAL	-	-	-	-	MXRA5	uc004crg.4,p.S1453R|NM_015419,p.S1453R|ENST00000217939,p.S1453R	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.A4357C	p.S1453R	TTLSSIKVEVASSQAETTTLDQDHL	TTLSSIKVEVASRQAETTTLDQDHL	3.0	8.0	-	-	3942_X:3239369-3239369 T>G_TTLSSIKVEVASRQAETTTLDQDHL
19:31769960-31769960 C>T	0.0	3942	RECTAL	-	-	-	-	TSHZ3	uc002nsy.4,p.D247N|ENST00000240587,p.D247N|NM_020856,p.D247N	protein_coding, processed_transcript	uc002nsy.4	nonsynonymous SNV	exon2	c.G739A	p.D247N	ETGHYRDDNHETDNNNPKRWSKPRK	ETGHYRDDNHETNNNNPKRWSKPRK	3.0	10.0	-	-	3942_19:31769960-31769960 C>T_ETGHYRDDNHETNNNNPKRWSKPRK
11:94759052-94759059 CCACACCA>-	0.0	3942	RECTAL	-	-	-	-	KDM4E	NM_001161630,p.P111fs|ENST00000450979,p.P111fs|uc010ruf.1,p.P111fs	protein_coding	uc010ruf.1	frameshift deletion	exon1	c.331_338del	p.P111fs	RRLANSKKYQTPPHQNFADLEQRYW	RRLANSKKYQTPEFCRFGATILEEPPR	1.0	1.0	unscreened	-	3942_11:94759052-94759059 CCACACCA>-_RRLANSKKYQTPEFCRFGATILEEPPR
5:13735964-13735964 G>A	0.0	3942	RECTAL	-	-	-	-	DNAH5	ENST00000265104,p.R3845C|uc003jfd.2,p.R3845C|uc003jfc.2,p.R13C|NM_001369,p.R3845C	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon67	c.C11533T	p.R3845C	MRLVNEMYQTSLRQFLGLFDLSLAR	MRLVNEMYQTSLCQFLGLFDLSLAR	3.0	2.0	-	-	3942_5:13735964-13735964 G>A_MRLVNEMYQTSLCQFLGLFDLSLAR
6:38905759-38905759 T>C	0.0	3942	RECTAL	-	-	-	-	DNAH8	ENST00000449981,p.V3858A|uc021yzh.1,p.V3858A|uc003oog.1,p.V90A|NM_001206927,p.V3858A|ENST00000441566,p.V3605A|ENST00000327475,p.V3846A|uc003ooe.2,p.V3641A|ENST00000359357,p.V3641A	protein_coding	uc021yzh.1	nonsynonymous SNV	exon78	c.T11573C	p.V3858A	LLYKLSATKGSLVDDESLIGVLRTT	LLYKLSATKGSLADDESLIGVLRTT	1.0	1.0	-	-	3942_6:38905759-38905759 T>C_LLYKLSATKGSLADDESLIGVLRTT
16:3647423-3647423 G>A	0.0	3942	RECTAL	-	-	-	-	SLX4	NM_032444,p.T547M|ENST00000294008,p.T547M|uc002cvp.2,p.T547M	retained_intron, protein_coding	uc002cvp.2	nonsynonymous SNV	exon7	c.C1640T	p.T547M	ALTGAWAMEDFYTARLVPPLVPQRP	ALTGAWAMEDFYMARLVPPLVPQRP	4.0	5.0	-	-	3942_16:3647423-3647423 G>A_ALTGAWAMEDFYMARLVPPLVPQRP
13:35733680-35733680 G>C	0.0	3942	RECTAL	-	-	-	2	NBEA	uc021ric.1,p.K1124N|ENST00000310336,p.K1124N|ENST00000540320,p.K1124N|NM_015678,p.K1124N|uc021rid.1,p.K1124N|ENST00000379939,p.K1124N|ENST00000400445,p.K1124N	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon22	c.G3372C	p.K1124N	HGSVGIIKKNEEKDNGPLITLADEK	HGSVGIIKKNEENDNGPLITLADEK	1.0	2.0	-	-	3942_13:35733680-35733680 G>C_HGSVGIIKKNEENDNGPLITLADEK
17:42855420-42855420 C>T	0.0	3942	RECTAL	-	-	-	-	ADAM11	uc010wjd.2,p.T524M|NM_002390,p.T724M|ENST00000535346,p.T524M|uc002ihh.3,p.T724M|ENST00000200557,p.T724M	retained_intron, protein_coding, nonsense_mediated_decay	uc010wjd.2	nonsynonymous SNV	exon24	c.C1571T	p.T524M	HNPLPTSPPTGETERYKGPSGTNII	HNPLPTSPPTGEMERYKGPSGTNII	1.0	10.0	-	-	3942_17:42855420-42855420 C>T_HNPLPTSPPTGEMERYKGPSGTNII
5:156770315-156770315 C>G	0.0	3942	RECTAL	-	-	-	-	FNDC9	NM_001001343,p.S77T|uc021ygp.1,p.S77T|uc003lwu.2,p.S77T|ENST00000312349,p.S77T|ENST00000520782,p.S77T	protein_coding	uc021ygp.1	nonsynonymous SNV	exon1	c.G230C	p.S77T	HLAPSTLYFLCISCKKAAFPYRHYC	HLAPSTLYFLCITCKKAAFPYRHYC	1.0	6.0	-	-	3942_5:156770315-156770315 C>G_HLAPSTLYFLCITCKKAAFPYRHYC
17:42855420-42855420 C>T	0.0	3942	RECTAL	-	-	-	-	ADAM11	uc002ihi.3,p.R77W	retained_intron, protein_coding, nonsense_mediated_decay	uc002ihi.3	nonsynonymous SNV	exon3	c.C229T	p.R77W	ITPCPRPHPRGRRRDIKVPAAPTSS	ITPCPRPHPRGRWRDIKVPAAPTSS	1.0	10.0	-	-	3942_17:42855420-42855420 C>T_ITPCPRPHPRGRWRDIKVPAAPTSS
6:125402595-125402595 C>A	0.0	3942	RECTAL	0.0005	-	-	-	RNF217	ENST00000359704,p.F207L|uc003pzs.3,p.F207L|NM_001286398,p.F499L|uc003pzr.3,p.F264L|ENST00000275184,p.F143L|NM_152553,p.F207L|ENST00000521654,p.F499L|ENST00000368414,p.F61L|ENST00000560949,p.F264L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pzs.3	nonsynonymous SNV	exon7	c.C621A	p.F207L	RLVRGSVCAGKLFIAPLIMVLGLAL	RLVRGSVCAGKLLIAPLIMVLGLAL	2.0	8.0	-	-	3942_6:125402595-125402595 C>A_RLVRGSVCAGKLLIAPLIMVLGLAL
1:111146588-111146588 C>G	0.0	3942	RECTAL	-	-	-	-	KCNA2	uc009wfv.2,p.E273Q|NM_004974,p.E273Q|ENST00000440270,p.E273Q|NM_001204269,p.E273Q|ENST00000369770,p.E273Q|ENST00000316361,p.E273Q|uc021oro.1,p.E273Q|ENST00000485317,p.E273Q|uc009wfw.3,p.E273Q	protein_coding, processed_transcript	uc021oro.1	nonsynonymous SNV	exon1	c.G817C	p.E273Q	VAIIPYFITLGTELAEKPEDAQQGQ	VAIIPYFITLGTQLAEKPEDAQQGQ	1.0	10.0	-	-	3942_1:111146588-111146588 C>G_VAIIPYFITLGTQLAEKPEDAQQGQ
19:49238733-49238733 G>T	0.0	3942	RECTAL	-	-	-	-	RASIP1	ENST00000222145,p.P300H|uc002pki.3,p.P300H|NM_017805,p.P300H	retained_intron, protein_coding, processed_transcript	uc002pki.3	nonsynonymous SNV	exon4	c.C899A	p.P300H	SRAASGGAALASPGPGTGSGAPAGS	SRAASGGAALASHGPGTGSGAPAGS	6.0	10.0	-	-	3942_19:49238733-49238733 G>T_SRAASGGAALASHGPGTGSGAPAGS
6:170627695-170627695 A>G	0.0	3942	RECTAL	-	-	-	-	FAM120B	ENST00000366751,p.D406G|uc003qxo.1,p.D406G|NM_032448,p.D406G|NM_001286380,p.D429G|ENST00000476287,p.D406G|NM_001286379,p.D418G|ENST00000537664,p.D429G|ENST00000540480,p.D418G|uc003qxp.3,p.D406G	protein_coding, processed_transcript, nonsense_mediated_decay	uc003qxp.3	nonsynonymous SNV	exon2	c.A1217G	p.D406G	GPESRREVPMCSDPEPRQEVPMCTG	GPESRREVPMCSGPEPRQEVPMCTG	8.0	1.0	unscreened	-	3942_6:170627695-170627695 A>G_GPESRREVPMCSGPEPRQEVPMCTG
6:108029129-108029129 A>G	0.0	3942	RECTAL	-	-	-	-	SCML4	ENST00000369020,p.F354L|NM_001286408,p.F296L|ENST00000369025,p.F112L|uc010kdf.3,p.F354L|NM_198081,p.F354L|ENST00000369022,p.F296L|uc003prz.4,p.F296L|NM_001286409,p.F112L|uc003pry.4,p.F112L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kdf.3	nonsynonymous SNV	exon7	c.T1060C	p.F354L	NPSAWTVEDVVWFVKDADPQALGPH	NPSAWTVEDVVWLVKDADPQALGPH	2.0	1.0	-	-	3942_6:108029129-108029129 A>G_NPSAWTVEDVVWLVKDADPQALGPH
9:115938896-115938896 C>T	1.0	3942	RECTAL	-	-	-	-	FKBP15	uc004bgr.2,p.R152Q|NM_015258,p.R715Q|ENST00000446284,p.R740Q|uc011lxd.1,p.R647Q|uc004bgs.2,p.R715Q|ENST00000238256,p.R715Q|uc011lxc.1,p.R296Q	protein_coding, processed_transcript	uc011lxd.1	nonsynonymous SNV	exon20	c.G1940A	p.R647Q	QAQSKFKSEKQNRKQLELKVTSLEE	QAQSKFKSEKQNQKQLELKVTSLEE	7.0	4.0	-	-	3942_9:115938896-115938896 C>T_QAQSKFKSEKQNQKQLELKVTSLEE
1:152287069-152287069 C>G	0.0	3942	RECTAL	-	-	-	-	FLG	ENST00000368799,p.G98A|uc001ezu.1,p.G98A|NM_002016,p.G98A	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G293C	p.G98A	YESTRKENLPISGHKHRKHSHHDKH	YESTRKENLPISAHKHRKHSHHDKH	1.0	1.0	-	-	3942_1:152287069-152287069 C>G_YESTRKENLPISAHKHRKHSHHDKH
20:40050051-40050051 C>G	1.0	3942	RECTAL	-	-	-	-	CHD6	NM_032221,p.D1742H|uc002xka.1,p.D1742H|ENST00000373233,p.D1742H	protein_coding, processed_transcript	uc002xka.1	nonsynonymous SNV	exon31	c.G5224C	p.D1742H	SRKDVITISISKDGNCQSGGPEAEI	SRKDVITISISKHGNCQSGGPEAEI	7.0	1.0	-	-	3942_20:40050051-40050051 C>G_SRKDVITISISKHGNCQSGGPEAEI
17:34073333-34073333 G>A	0.0	3942	RECTAL	-	-	-	-	GAS2L2	ENST00000587565,p.P379S|NM_139285,p.P395S|uc002hjv.2,p.P395S|ENST00000254466,p.P395S	protein_coding	uc002hjv.2	nonsynonymous SNV	exon6	c.C1183T	p.P395S	SPQSSSTQKGRDPQCTSSGKREERY	SPQSSSTQKGRDSQCTSSGKREERY	1.0	10.0	-	-	3942_17:34073333-34073333 G>A_SPQSSSTQKGRDSQCTSSGKREERY
20:34022428-34022428 T>C	0.0	3942	RECTAL	-	-	-	-	GDF5	ENST00000374375,p.W158R	protein_coding	ENST00000374375	nonsynonymous SNV	exon2	c.T472C	p.W158R	GCRPLGQLDSFSWAARPPPGAAGLA	GCRPLGQLDSFSRAARPPPGAAGLA	1.0	2.0	unscreened	-	3942_20:34022428-34022428 T>C_GCRPLGQLDSFSRAARPPPGAAGLA
2:40656448-40656448 C>G	0.0	3942	RECTAL	-	-	-	-	SLC8A1	uc002rsa.3,p.E325Q|ENST00000406785,p.E325Q|uc010fan.1,p.E325Q|ENST00000408028,p.E325Q|ENST00000402441,p.E325Q|uc002rsc.1,p.E325Q|NM_021097,p.E325Q|ENST00000405901,p.E325Q|uc002rrz.3,p.E325Q|ENST00000407929,p.E322Q|ENST00000403092,p.E325Q|uc002rsb.2,p.E325Q|uc002rry.3,p.E325Q|ENST00000405269,p.E325Q|NM_001112802,p.E325Q|NM_001112801,p.E325Q|ENST00000542756,p.E325Q|uc002rsd.4,p.E325Q|NM_001252624,p.E325Q|ENST00000542024,p.E325Q|ENST00000406391,p.E325Q|NM_001112800,p.E325Q|ENST00000332839,p.E325Q|uc002rrx.3,p.E325Q	protein_coding, nonsense_mediated_decay	uc010fan.1	nonsynonymous SNV	exon3	c.G973C	p.E325Q	DERDQDDEEARREMARILKELKQKH	DERDQDDEEARRQMARILKELKQKH	2.0	3.0	-	-	3942_2:40656448-40656448 C>G_DERDQDDEEARRQMARILKELKQKH
2:203826129-203826129 G>A	0.0	3942	RECTAL	-	-	-	-	CARF	uc002uzn.3,p.G169E|ENST00000434998,p.G169E|uc002uzm.3,p.G271E|ENST00000444724,p.G271E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002uzn.3	nonsynonymous SNV	exon7	c.G506A	p.G169E	RLMWKSQYVPYDGIPFVNAGTFLKN	RLMWKSQYVPYDEIPFVNAGTFLKN	4.0	3.0	-	-	3942_2:203826129-203826129 G>A_RLMWKSQYVPYDEIPFVNAGTFLKN
1:237947218-237947218 G>C	0.0	3942	RECTAL	-	-	-	-	RYR2	ENST00000366574,p.C4069S|uc010pya.2,p.C484S|uc001hyl.1,p.C4069S|NM_001035,p.C4069S|ENST00000542537,p.C4053S|ENST00000360064,p.C4075S	protein_coding, processed_transcript	uc010pya.2	nonsynonymous SNV	exon16	c.G1451C	p.C484S	HYTQSETEFLLSCAETDENETLDYE	HYTQSETEFLLSSAETDENETLDYE	4.0	8.0	-	-	3942_1:237947218-237947218 G>C_HYTQSETEFLLSSAETDENETLDYE
6:30954356-30954356 C>T	0.0	3942	RECTAL	-	-	-	-	MUC21	uc003nsh.2,p.A135V|ENST00000376296,p.A135V|uc021yuf.1,p.A119V|NM_001010909,p.A135V	protein_coding	uc021yuf.1	nonsynonymous SNV	exon1	c.C356T	p.A119V	SESSTPSSGASTATNSDSSTTSSGA	SESSTPSSGASTVTNSDSSTTSSGA	1.0	1.0	unscreened	-	3942_6:30954356-30954356 C>T_SESSTPSSGASTVTNSDSSTTSSGA
10:25510047-25510047 G>C	0.0	3942	RECTAL	-	-	-	-	GPR158	uc001isj.3,p.W323C|NM_020752,p.W323C|ENST00000376351,p.W323C	protein_coding, processed_transcript	uc001isj.3	nonsynonymous SNV	exon2	c.G969C	p.W323C	QKVDIDQCSSDGWFSGTHKCHLNNS	QKVDIDQCSSDGCFSGTHKCHLNNS	1.0	2.0	-	-	3942_10:25510047-25510047 G>C_QKVDIDQCSSDGCFSGTHKCHLNNS
14:20482631-20482631 C>A	0.0	3942	RECTAL	-	-	-	-	OR4K14	ENST00000305045,p.C241F|uc010tky.2,p.C241F|NM_001004712,p.C241F	protein_coding	uc010tky.2	nonsynonymous SNV	exon1	c.G722T	p.C241F	RAAGSTSKALSTCSAHIMVVTLFFG	RAAGSTSKALSTFSAHIMVVTLFFG	1.0	4.0	-	-	3942_14:20482631-20482631 C>A_RAAGSTSKALSTFSAHIMVVTLFFG
2:207041887-207041887 C>G	0.0	3942	RECTAL	-	-	-	-	GPR1	uc031rqv.1,p.E29Q|NM_001261452,p.E29Q|ENST00000447845,p.E29Q|ENST00000407325,p.E29Q|uc031rqw.1,p.E29Q|uc010fuf.3,p.E29Q|ENST00000411719,p.E29Q|uc002vbl.4,p.E29Q|NM_001261455,p.E29Q|ENST00000437420,p.E29Q|ENST00000439932,p.E29Q|NM_005279,p.E29Q|NM_001261454,p.E29Q|NM_001261453,p.E29Q|NM_001098199,p.E29Q|uc021vvl.1,p.E29Q|uc031rqu.1,p.E29Q|uc010fue.3,p.E29Q|ENST00000442134,p.E29Q|ENST00000451790,p.E29Q	protein_coding	uc031rqw.1	nonsynonymous SNV	exon4	c.G85C	p.E29Q	YDLDYYSLESDLEEKVQLGVVHWVS	YDLDYYSLESDLQEKVQLGVVHWVS	2.0	5.0	-	-	3942_2:207041887-207041887 C>G_YDLDYYSLESDLQEKVQLGVVHWVS
9:74860083-74860083 G>T	0.0	3942	RECTAL	-	-	-	-	GDA	ENST00000358399,p.E385D|ENST00000238018,p.E385D|uc004air.3,p.E385D|NM_004293,p.E385D|uc011lsf.2,p.E311D|uc011lse.2,p.E311D|uc004aiq.3,p.E385D|NM_001242507,p.E311D|NM_001242506,p.E311D|ENST00000376989,p.E324D|ENST00000545168,p.E311D|NM_001242505,p.E385D|ENST00000436438,p.E93D|ENST00000475764,p.E385D|ENST00000376986,p.E307D|uc004ais.3,p.E307D	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lsf.2	nonsynonymous SNV	exon13	c.G933T	p.E311D	TLGGSQALGLDGEIGNFEVGKEFDA	TLGGSQALGLDGDIGNFEVGKEFDA	6.0	3.0	unscreened	-	3942_9:74860083-74860083 G>T_TLGGSQALGLDGDIGNFEVGKEFDA
X:104464723-104464723 G>A	0.0	3942	RECTAL	-	-	-	-	TEX13A	uc004emb.3,p.T120M|uc004ema.3,p.T120M|ENST00000372578,p.T120M|ENST00000372575,p.T120M|ENST00000413579,p.T120M|NM_031274,p.T120M|NM_001291277,p.T120M	protein_coding	uc004emb.3	nonsynonymous SNV	exon2	c.C359T	p.T120M	ASDLKKLREQQETERKEAASRLRMA	ASDLKKLREQQEMERKEAASRLRMA	1.0	8.0	-	-	3942_X:104464723-104464723 G>A_ASDLKKLREQQEMERKEAASRLRMA
10:8007253-8007253 G>C	0.0	3942	RECTAL	-	-	-	-	TAF3	NM_031923,p.E594Q|ENST00000344293,p.E594Q|uc010qbd.3,p.E594Q	protein_coding	uc010qbd.3	nonsynonymous SNV	exon3	c.G1780C	p.E594Q	EEEADPYKFKIKEFEDVDPKVKLKD	EEEADPYKFKIKQFEDVDPKVKLKD	4.0	1.0	-	-	3942_10:8007253-8007253 G>C_EEEADPYKFKIKQFEDVDPKVKLKD
16:48173216-48173216 G>C	0.0	3942	RECTAL	-	-	-	-	ABCC12	uc002efe.1,p.S230C|ENST00000532494,p.S230C|ENST00000448542,p.S230C|ENST00000311303,p.S230C|ENST00000533639,p.S230C|ENST00000529504,p.S230C|ENST00000529084,p.S230C|ENST00000497206,p.S230C|uc002efc.1,p.S230C|ENST00000416054,p.S230C|NM_033226,p.S230C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002efe.1	nonsynonymous SNV	exon6	c.C689G	p.S230C	GEVLNILSSDSYSLFEAALFCPLPA	GEVLNILSSDSYCLFEAALFCPLPA	1.0	5.0	-	-	3942_16:48173216-48173216 G>C_GEVLNILSSDSYCLFEAALFCPLPA
20:52773798-52773798 C>T	0.0	3942	RECTAL	-	-	-	-	CYP24A1	ENST00000395955,p.D423N|NM_001128915,p.D423N|uc002xww.2,p.D423N	protein_coding, processed_transcript	uc002xww.2	nonsynonymous SNV	exon10	c.G1267A	p.D423N	KGIVRKYDIQATDNEPVEMLHSGTL	KGIVRKYDIQATNNEPVEMLHSGTL	1.0	2.0	-	-	3942_20:52773798-52773798 C>T_KGIVRKYDIQATNNEPVEMLHSGTL
20:52773798-52773798 C>T	0.0	3942	RECTAL	-	-	-	-	CYP24A1	ENST00000395954,p.D347N|NM_000782,p.D489N|ENST00000216862,p.D489N|uc002xwv.2,p.D489N|uc002xwu.1,p.D347N	protein_coding, processed_transcript	uc002xwv.2	nonsynonymous SNV	exon11	c.G1465A	p.D489N	CWIVRKYDIQATDNEPVEMLHSGTL	CWIVRKYDIQATNNEPVEMLHSGTL	1.0	2.0	-	-	3942_20:52773798-52773798 C>T_CWIVRKYDIQATNNEPVEMLHSGTL
20:34022429-34022429 G>T	0.0	3942	RECTAL	-	-	-	-	GDF5	ENST00000374375,p.W158L	protein_coding	ENST00000374375	nonsynonymous SNV	exon2	c.G473T	p.W158L	GCRPLGQLDSFSWAARPPPGAAGLA	GCRPLGQLDSFSLAARPPPGAAGLA	1.0	2.0	-	-	3942_20:34022429-34022429 G>T_GCRPLGQLDSFSLAARPPPGAAGLA
2:185801603-185801603 A>G	0.0	3942	RECTAL	-	-	-	-	ZNF804A	NM_194250,p.M494V|ENST00000302277,p.M494V|uc002uph.3,p.M494V	protein_coding	uc002uph.3	nonsynonymous SNV	exon4	c.A1480G	p.M494V	DLCSQQKQEDICMGPLSDYKDVSTE	DLCSQQKQEDICVGPLSDYKDVSTE	1.0	3.0	-	-	3942_2:185801603-185801603 A>G_DLCSQQKQEDICVGPLSDYKDVSTE
2:203826129-203826129 G>A	0.0	3942	RECTAL	-	-	-	-	CARF	ENST00000428585,p.G195E|ENST00000320443,p.G271E|uc002uzo.2,p.G271E|NM_001104586,p.G271E|NM_001282911,p.G195E|ENST00000438828,p.G271E|uc010zib.1,p.G195E|ENST00000545253,p.G183E|NM_001282912,p.G183E|ENST00000402905,p.G271E|uc002uzp.2,p.G271E|uc010zia.1,p.G195E|ENST00000422368,p.G241E|ENST00000414439,p.G169E|ENST00000545262,p.G195E|NM_001282910,p.G195E|uc010zic.1,p.G183E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zic.1	nonsynonymous SNV	exon6	c.G548A	p.G183E	RLMWKSQYVPYDGIPFVNAGSRAVV	RLMWKSQYVPYDEIPFVNAGSRAVV	4.0	3.0	-	-	3942_2:203826129-203826129 G>A_RLMWKSQYVPYDEIPFVNAGSRAVV
X:18276184-18276184 C>T	0.0	3942	RECTAL	-	-	-	-	SCML2	ENST00000251900,p.R418H|uc010nfc.2,p.R154H|ENST00000398048,p.R154H|NM_006089,p.R418H|uc011miz.1,p.R352H|uc010nfd.1,p.R418H|uc004cyl.2,p.R418H	protein_coding, processed_transcript	uc011miz.1	nonsynonymous SNV	exon9	c.G1055A	p.R352H	TKTVFGYLKPDNRGGEVITASFDGE	TKTVFGYLKPDNHGGEVITASFDGE	5.0	8.0	-	-	3942_X:18276184-18276184 C>T_TKTVFGYLKPDNHGGEVITASFDGE
1:50661382-50661382 G>T	0.0	3942	RECTAL	-	-	-	-	ELAVL4	uc001csc.3,p.A220S|uc009vyu.3,p.A225S|uc001crz.3,p.A220S|NM_021952,p.A220S|NM_001144777,p.A223S|ENST00000371827,p.A220S|ENST00000371821,p.A225S|ENST00000371823,p.A220S|uc001cry.3,p.A223S|NM_001144775,p.A256S|NM_001294348,p.A225S|ENST00000448907,p.A223S|ENST00000371824,p.A220S|NM_001144774,p.A220S|ENST00000371819,p.A225S|uc001csa.3,p.A237S|uc010omz.2,p.A225S|uc001csb.2,p.A220S|ENST00000357083,p.A237S|NM_001144776,p.A220S	protein_coding, processed_transcript	uc010omz.2	nonsynonymous SNV	exon5	c.G673T	p.A225S	KFANNPSQKSSQALLSQLYQSPNRR	KFANNPSQKSSQSLLSQLYQSPNRR	1.0	6.0	-	-	3942_1:50661382-50661382 G>T_KFANNPSQKSSQSLLSQLYQSPNRR
18:30257203-30257203 C>G	0.0	3942	RECTAL	-	-	-	-	KLHL14	uc002kxm.1,p.R560P|ENST00000359358,p.R560P|NM_020805,p.R560P	protein_coding	uc002kxm.1	nonsynonymous SNV	exon8	c.G1679C	p.R560P	QWNILQTPILEGRSGPGCAVLDDSI	QWNILQTPILEGPSGPGCAVLDDSI	1.0	9.0	-	-	3942_18:30257203-30257203 C>G_QWNILQTPILEGPSGPGCAVLDDSI
3:195505910-195505910 T>C	0.0	3942	RECTAL	-	-	-	2	MUC4	ENST00000478156,p.S4181G|NM_018406,p.S4181G|ENST00000479406,p.S4181G|ENST00000477086,p.S4181G|ENST00000462323,p.S4181G|ENST00000480843,p.S4181G|ENST00000477756,p.S4181G|uc021xjp.1,p.S4181G|ENST00000463781,p.S4181G|ENST00000470451,p.S4181G|ENST00000466475,p.S4181G|ENST00000475231,p.S4181G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A12541G	p.S4181G	VSTGHGTPLPVTSTSSASTGDTTPL	VSTGHGTPLPVTGTSSASTGDTTPL	4.0	9.0	unscreened	-	3942_3:195505910-195505910 T>C_VSTGHGTPLPVTGTSSASTGDTTPL
3:195505909-195505909 C>T	0.0	3942	RECTAL	-	-	-	2	MUC4	ENST00000462323,p.S4181N|ENST00000466475,p.S4181N|uc021xjp.1,p.S4181N|ENST00000479406,p.S4181N|ENST00000477086,p.S4181N|NM_018406,p.S4181N|ENST00000475231,p.S4181N|ENST00000477756,p.S4181N|ENST00000480843,p.S4181N|ENST00000463781,p.S4181N|ENST00000470451,p.S4181N|ENST00000478156,p.S4181N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G12542A	p.S4181N	VSTGHGTPLPVTSTSSASTGDTTPL	VSTGHGTPLPVTNTSSASTGDTTPL	4.0	9.0	unscreened	-	3942_3:195505909-195505909 C>T_VSTGHGTPLPVTNTSSASTGDTTPL
5:153190628-153190628 G>A	0.0	3942	RECTAL	-	-	-	-	GRIA1	NM_001258021,p.R865Q|uc011dcy.2,p.R865Q|NM_001258019,p.R775Q|NM_001258020,p.R760Q|ENST00000448073,p.R865Q|ENST00000285900,p.R855Q|NM_001258022,p.R865Q|ENST00000521843,p.R786Q|NM_000827,p.R855Q|uc011dcz.2,p.R865Q|uc003luy.4,p.R855Q|uc003lva.4,p.R855Q|uc011dcw.2,p.R775Q|NM_001258023,p.R786Q|NM_001114183,p.R855Q|ENST00000518142,p.R775Q|uc003luz.4,p.R760Q|ENST00000340592,p.R855Q|uc011dcx.2,p.R786Q|ENST00000518783,p.R865Q	retained_intron, protein_coding, processed_transcript	uc011dcz.2	nonsynonymous SNV	exon16	c.G2594A	p.R865Q	CLIPQQSINEAIRTSTLPRNSGAGA	CLIPQQSINEAIQTSTLPRNSGAGA	1.0	5.0	-	-	3942_5:153190628-153190628 G>A_CLIPQQSINEAIQTSTLPRNSGAGA
11:1651199-1651199 ->GGCTGTGGCTCC	0.0	3942	RECTAL	-	-	-	-	KRTAP5-5	ENST00000399676,p.G43delinsGGCGS|NM_001001480,p.G43delinsGGCGS|uc001lty.3,p.G43delinsGGCGS	protein_coding	uc001lty.3	nonframeshift insertion	exon1	c.129_130insGGCTGTGGCTCC	p.G43delinsGGCGS	CGSGCGGCGSGCGGCGGCGSGCAGC	CGSGCGGCGSGCGGCGSGCGGCGSG	1.0	1.0	unscreened	-	3942_11:1651199-1651199 ->GGCTGTGGCTCC_CGSGCGGCGSGCGGCGSGCGGCGSG
14:80328033-80328033 G>A	0.0	3942	RECTAL	-	-	ID=COSM124862,COSM124861;OCCURENCE=1(upper_aerodigestive_tract)	-	NRXN3	ENST00000281127,p.R342Q|uc001xur.5,p.R342Q|NM_138970,p.R342Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xur.5	nonsynonymous SNV	exon6	c.G1025A	p.R342Q	GRSANPTEPGIRRVPGASEVIRESS	GRSANPTEPGIRQVPGASEVIRESS	1.0	8.0	-	-	3942_14:80328033-80328033 G>A_GRSANPTEPGIRQVPGASEVIRESS
14:80328033-80328033 G>A	0.0	3942	RECTAL	-	-	ID=COSM124862,COSM124861;OCCURENCE=1(upper_aerodigestive_tract)	-	NRXN3	ENST00000557594,p.R547Q|uc001xuq.3,p.R547Q|NM_001272020,p.R547Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xuq.3	nonsynonymous SNV	exon6	c.G1640A	p.R547Q	VPTANPTEPGIRRVPGASEVIRESS	VPTANPTEPGIRQVPGASEVIRESS	1.0	8.0	-	-	3942_14:80328033-80328033 G>A_VPTANPTEPGIRQVPGASEVIRESS
14:80328033-80328033 G>A	0.0	3942	RECTAL	-	-	ID=COSM124862,COSM124861;OCCURENCE=1(upper_aerodigestive_tract)	-	NRXN3	ENST00000428277,p.R369Q|ENST00000335750,p.R971Q|uc010asw.4,p.R369Q|uc001xun.4,p.R971Q|NM_001105250,p.R369Q|NM_004796,p.R971Q|ENST00000554719,p.R971Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010asw.4	nonsynonymous SNV	exon7	c.G1106A	p.R369Q	PSTANPTEPGIRRVPGASEVIRESS	PSTANPTEPGIRQVPGASEVIRESS	1.0	8.0	-	-	3942_14:80328033-80328033 G>A_PSTANPTEPGIRQVPGASEVIRESS
10:107015482-107015482 C>G	0.0	3942	RECTAL	-	-	-	-	SORCS3	uc001kyi.1,p.A1087G|NM_014978,p.A1087G|ENST00000369701,p.A1087G	protein_coding	uc001kyi.1	nonsynonymous SNV	exon24	c.C3260G	p.A1087G	GDLEQIVETLFNALNQNLVQFELKP	GDLEQIVETLFNGLNQNLVQFELKP	1.0	6.0	-	-	3942_10:107015482-107015482 C>G_GDLEQIVETLFNGLNQNLVQFELKP
9:107267103-107267103 T>C	0.0	3942	RECTAL	-	-	-	-	OR13F1	ENST00000334726,p.L187S|NM_001004485,p.L187S|uc011lvm.2,p.L187S	protein_coding	uc011lvm.2	nonsynonymous SNV	exon1	c.T560C	p.L187S	NHFTCEILAILKLVCVDTSLVQLIM	NHFTCEILAILKSVCVDTSLVQLIM	1.0	5.0	-	-	3942_9:107267103-107267103 T>C_NHFTCEILAILKSVCVDTSLVQLIM
16:25251475-25251475 C>T	0.0	3942	RECTAL	-	-	-	-	ZKSCAN2	ENST00000328086,p.E856K|uc010vcl.2,p.E652K|NM_001012981,p.E856K|uc002dod.4,p.E856K	retained_intron, protein_coding, nonsense_mediated_decay	uc010vcl.2	nonsynonymous SNV	exon7	c.G1954A	p.E652K	SSLIIHQRTHTGEKPYQCGECGKSF	SSLIIHQRTHTGKKPYQCGECGKSF	3.0	9.0	-	-	3942_16:25251475-25251475 C>T_SSLIIHQRTHTGKKPYQCGECGKSF
12:90003797-90003797 C>T	0.0	3942	RECTAL	-	-	-	-	ATP2B1	uc001tbf.3,p.D457N|ENST00000261173,p.D787N|NM_001001323,p.D787N|ENST00000348959,p.D787N|ENST00000359142,p.D787N|uc001tbg.3,p.D787N|NM_001682,p.D787N|ENST00000428670,p.D787N|ENST00000393164,p.D530N|uc001tbh.3,p.D787N	retained_intron, protein_coding	uc001tbh.3	nonsynonymous SNV	exon14	c.G2359A	p.D787N	TLVKGIIDSTVSDQRQVVAVTGDGT	TLVKGIIDSTVSNQRQVVAVTGDGT	5.0	4.0	-	-	3942_12:90003797-90003797 C>T_TLVKGIIDSTVSNQRQVVAVTGDGT
20:34022428-34022428 T>C	0.0	3942	RECTAL	-	-	-	-	GDF5	uc002xcj.3,p.L280P	protein_coding	uc002xcj.3	nonsynonymous SNV	exon2	c.T839C	p.L280P	RLPAAGAAGQLQLGSPPASGGRWLG	RLPAAGAAGQLQPGSPPASGGRWLG	1.0	2.0	-	-	3942_20:34022428-34022428 T>C_RLPAAGAAGQLQPGSPPASGGRWLG
2:1271233-1271233 G>A	0.0	3942	RECTAL	-	-	ID=COSM3406842;OCCURENCE=1(central_nervous_system)	-	SNTG2	uc002qwq.3,p.V392M|ENST00000407292,p.V265M|NM_018968,p.V392M|ENST00000308624,p.V392M|uc010ewi.3,p.V265M	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ewi.3	nonsynonymous SNV	exon8	c.G793A	p.V265M	DFEDQRPYCFSIVAGHGKSHVFNVE	DFEDQRPYCFSIMAGHGKSHVFNVE	1.0	8.0	-	-	3942_2:1271233-1271233 G>A_DFEDQRPYCFSIMAGHGKSHVFNVE
14:105613683-105613683 G>A	1.0	3942	RECTAL	-	-	-	-	JAG2	NM_145159,p.A782V|ENST00000331782,p.A820V|uc001yqh.4,p.A782V|ENST00000347004,p.A782V|NM_002226,p.A820V|uc001yqf.4,p.A224V|uc001yqg.4,p.A820V	retained_intron, protein_coding	uc001yqh.4	nonsynonymous SNV	exon19	c.C2345T	p.A782V	VNWFRCECAPGFAGPDCRINIDECQ	VNWFRCECAPGFVGPDCRINIDECQ	9.0	5.0	-	-	3942_14:105613683-105613683 G>A_VNWFRCECAPGFVGPDCRINIDECQ
8:8234558-8234558 G>A	0.0	3942	RECTAL	-	-	-	-	SGK223	uc003wsh.4,p.A454V|ENST00000330777,p.A454V|ENST00000520004,p.A454V	protein_coding	uc003wsh.4	nonsynonymous SNV	exon2	c.C1361T	p.A454V	QVCTGNAWAQKAASGWGRDSPDPTP	QVCTGNAWAQKAVSGWGRDSPDPTP	6.0	5.0	-	-	3942_8:8234558-8234558 G>A_QVCTGNAWAQKAVSGWGRDSPDPTP
5:140222150-140222150 G>A	0.0	3942	RECTAL	-	-	-	-	PCDHA8	uc003lhs.2,p.R415H|uc003lhr.1,p.R415H|ENST00000378123,p.R415H|NM_031856,p.R415H|ENST00000531613,p.R415H|NM_018911,p.R415H	protein_coding	uc003lhs.2	nonsynonymous SNV	exon1	c.G1244A	p.R415H	NYYSLVLDSALDRERVSAYELVVTA	NYYSLVLDSALDHERVSAYELVVTA	1.0	3.0	unscreened	-	3942_5:140222150-140222150 G>A_NYYSLVLDSALDHERVSAYELVVTA
19:36002419-36002421 CCA>-	0.0	3942	RECTAL	0.21	rs72334573	ID=COSM1734490,COSM1734489;OCCURENCE=1(pancreas)	-	DMKN	ENST00000440396,p.270_271del|uc002nzm.4,p.270_271del|uc002oac.4,p.270_271del|ENST00000447113,p.270_271del|uc002oab.4,p.270_271del|uc002oaa.4,p.270_271del|NM_001190349,p.270_271del|NM_001126057,p.270_271del|NM_033317,p.270_271del|ENST00000424570,p.270_271del|ENST00000339686,p.270_271del|NM_001126058,p.270_271del|ENST00000451297,p.270_271del|ENST00000418261,p.270_271del|uc002nzz.3,p.270_271del|NM_001190348,p.270_271del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oac.4	nonframeshift deletion	exon5	c.810_812del	p.270_271del	GSNGDNNNGSSSGGSSSGSSSGGSS	GSNGDNNNGSSSGSSSGSSSGGSSG	9.0	9.0	unscreened	-	3942_19:36002419-36002421 CCA>-_GSNGDNNNGSSSGSSSGSSSGGSSG
6:3225271-3225271 G>-	0.0	3942	RECTAL	-	-	-	-	TUBB2B	NM_178012,p.T351fs|ENST00000259818,p.T351fs|uc003mvg.3,p.T351fs	protein_coding, processed_transcript	uc003mvg.3	frameshift deletion	exon4	c.1052delC	p.T351fs	SYFVEWIPNNVKTAVCDIPPRGLKM	SYFVEWIPNNVKRPCATSRPAA	7.0	8.0	unscreened	-	3942_6:3225271-3225271 G>-_SYFVEWIPNNVKRPCATSRPAA
20:34022429-34022429 G>T	0.0	3942	RECTAL	-	-	-	-	GDF5	NM_000557,p.Q262K|ENST00000374369,p.Q262K|uc002xck.1,p.Q262K|uc010gfc.1,p.Q262K|ENST00000374372,p.Q262K	protein_coding	uc010gfc.1	nonsynonymous SNV	exon2	c.C784A	p.Q262K	AKPAAPGGGRAAQLKLSSCPSGRQP	AKPAAPGGGRAAKLKLSSCPSGRQP	1.0	2.0	unscreened	-	3942_20:34022429-34022429 G>T_AKPAAPGGGRAAKLKLSSCPSGRQP
12:123471226-123471226 G>C	0.0	3942	RECTAL	-	-	-	-	PITPNM2	ENST00000280562,p.H1182Q|NM_020845,p.H1188Q|ENST00000320201,p.H1188Q|ENST00000542749,p.H1188Q|uc001uek.1,p.H1182Q|uc001uej.1,p.H1188Q|NM_001300801,p.H1182Q|ENST00000392428,p.H909Q	retained_intron, protein_coding, processed_transcript	uc001uek.1	nonsynonymous SNV	exon24	c.C3546G	p.H1182Q	SFCDGLVHDPLRHKANFLKLLISEL	SFCDGLVHDPLRQKANFLKLLISEL	5.0	4.0	-	-	3942_12:123471226-123471226 G>C_SFCDGLVHDPLRQKANFLKLLISEL
X:22291655-22291655 G>C	0.0	3942	RECTAL	-	-	-	-	ZNF645	NM_152577,p.E183Q|ENST00000323684,p.E183Q|uc004dai.2,p.E183Q	protein_coding	uc004dai.2	nonsynonymous SNV	exon1	c.G547C	p.E183Q	LQDRDHLSYIPPEQHTMVSLPSVQH	LQDRDHLSYIPPQQHTMVSLPSVQH	1.0	3.0	-	-	3942_X:22291655-22291655 G>C_LQDRDHLSYIPPQQHTMVSLPSVQH
20:47990168-47990168 G>C	0.0	3942	RECTAL	-	-	-	-	KCNB1	uc002xus.1,p.S643R|ENST00000371741,p.S643R|NM_004975,p.S643R|uc002xur.1,p.S643R	protein_coding	uc002xus.1	nonsynonymous SNV	exon3	c.C1929G	p.S643R	GASGGRFVEANPSPDASQHSSFFIE	GASGGRFVEANPRPDASQHSSFFIE	1.0	2.0	-	-	3942_20:47990168-47990168 G>C_GASGGRFVEANPRPDASQHSSFFIE
X:150349407-150349407 T>A	0.0	3942	RECTAL	-	-	-	-	GPR50	NM_004224,p.V451D|uc010ntg.2,p.V451D|ENST00000218316,p.V451D	protein_coding	uc010ntg.2	nonsynonymous SNV	exon2	c.T1352A	p.V451D	PKPASVHFKADSVHFKGDSVHFKPD	PKPASVHFKADSDHFKGDSVHFKPD	1.0	7.0	-	-	3942_X:150349407-150349407 T>A_PKPASVHFKADSDHFKGDSVHFKPD
7:6590997-6590997 G>C	0.0	3942	RECTAL	-	-	-	-	GRID2IP	NM_001145118,p.S24C|ENST00000457091,p.S24C|uc011jwx.2,p.S24C	protein_coding	uc011jwx.2	nonsynonymous SNV	exon1	c.C71G	p.S24C	GWPEDFGFRLGGSGPCFVLEVAKGS	GWPEDFGFRLGGCGPCFVLEVAKGS	3.0	4.0	-	-	3942_7:6590997-6590997 G>C_GWPEDFGFRLGGCGPCFVLEVAKGS
20:34022428-34022428 T>C	0.0	3942	RECTAL	-	-	-	-	GDF5	uc010gfc.1,p.Q262R|NM_000557,p.Q262R|ENST00000374369,p.Q262R|uc002xck.1,p.Q262R|ENST00000374372,p.Q262R	protein_coding	uc010gfc.1	nonsynonymous SNV	exon2	c.A785G	p.Q262R	AKPAAPGGGRAAQLKLSSCPSGRQP	AKPAAPGGGRAARLKLSSCPSGRQP	1.0	2.0	-	-	3942_20:34022428-34022428 T>C_AKPAAPGGGRAARLKLSSCPSGRQP
9:17342328-17342328 A>C	0.0	3942	RECTAL	-	-	-	-	CNTLN	uc003zmy.3,p.E591A|uc010mio.3,p.E270A|ENST00000262360,p.E591A|ENST00000380647,p.E591A|NM_017738,p.E591A|ENST00000425824,p.E591A|uc003zmz.2,p.E591A	protein_coding, processed_transcript	uc010mio.3	nonsynonymous SNV	exon8	c.A809C	p.E270A	QLKQWEEGSGMTEIRKIKRADPQQL	QLKQWEEGSGMTAIRKIKRADPQQL	1.0	6.0	-	-	3942_9:17342328-17342328 A>C_QLKQWEEGSGMTAIRKIKRADPQQL
12:9225411-9225411 C>G	0.0	3942	RECTAL	-	-	-	-	A2M	NM_000014,p.R1271S|uc001qvk.1,p.R1271S|ENST00000318602,p.R1271S|uc009zgk.1,p.R1121S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zgk.1	nonsynonymous SNV	exon29	c.G3363C	p.R1121S	HALSKYGAATFTRTGKAAQVTIQSS	HALSKYGAATFTSTGKAAQVTIQSS	9.0	5.0	-	-	3942_12:9225411-9225411 C>G_HALSKYGAATFTSTGKAAQVTIQSS
11:56409792-56409792 T>C	0.0	3942	RECTAL	-	-	-	-	OR5AP2	ENST00000302981,p.M42V|NM_001002925,p.M42V|uc001njb.1,p.M42V|ENST00000544374,p.M43V	protein_coding	uc001njb.1	nonsynonymous SNV	exon1	c.A124G	p.M42V	QGVLFALFLLIYMANMVGNLGMIVL	QGVLFALFLLIYVANMVGNLGMIVL	2.0	4.0	-	-	3942_11:56409792-56409792 T>C_QGVLFALFLLIYVANMVGNLGMIVL
19:15349760-15349760 C>T	1.0	3942	RECTAL	-	-	-	1	BRD4	ENST00000263377,p.A1272T|NM_058243,p.A1272T|uc002nar.3,p.A1272T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nar.3	nonsynonymous SNV	exon19	c.G3814A	p.A1272T	MRSREDEDALEQARRAHEEARRRQE	MRSREDEDALEQTRRAHEEARRRQE	7.0	7.0	-	-	3942_19:15349760-15349760 C>T_MRSREDEDALEQTRRAHEEARRRQE
X:152105022-152105022 C>G	0.0	3942	RECTAL	-	-	-	-	ZNF185	uc011myg.2,p.N393K|ENST00000539731,p.N364K|ENST00000436731,p.N66K|NM_001178106,p.N393K|uc011myh.2,p.N364K|NM_001178107,p.N364K|ENST00000535861,p.N393K	protein_coding	uc011myh.2	nonsynonymous SNV	exon14	c.C1092G	p.N364K	ASFLEDQDGHSANSQSCKPRPAAIS	ASFLEDQDGHSAKSQSCKPRPAAIS	5.0	2.0	unscreened	-	3942_X:152105022-152105022 C>G_ASFLEDQDGHSAKSQSCKPRPAAIS
12:40758742-40758742 T>A	0.0	3942	RECTAL	-	-	-	-	LRRK2	uc001rmi.3,p.I1260K|NM_198578,p.I2427K|uc001rmg.4,p.I2427K|uc009zjw.3,p.I1265K|ENST00000298910,p.I2427K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zjw.3	nonsynonymous SNV	exon28	c.T3794A	p.I1265K	KTLCLQKNTALWIGTGGGHILLLDL	KTLCLQKNTALWKGTGGGHILLLDL	1.0	7.0	-	-	3942_12:40758742-40758742 T>A_KTLCLQKNTALWKGTGGGHILLLDL
X:50341303-50341303 G>T	0.0	3942	RECTAL	-	-	-	-	SHROOM4	NM_020717,p.A1392D|ENST00000376020,p.A1392D|ENST00000289292,p.A1392D|ENST00000460112,p.A1276D|uc004dpe.2,p.A1392D	protein_coding, processed_transcript	uc004dpe.2	nonsynonymous SNV	exon8	c.C4175A	p.A1392D	LSLSGRLARVENALNSIDSEANQEK	LSLSGRLARVENDLNSIDSEANQEK	5.0	7.0	-	-	3942_X:50341303-50341303 G>T_LSLSGRLARVENDLNSIDSEANQEK
2:168101592-168101592 T>G	0.0	3942	RECTAL	-	-	-	-	XIRP2	uc002udy.3,p.D1055E|NM_152381,p.D1230E|ENST00000409273,p.D1008E|NM_001199144,p.D1008E|uc010fpq.3,p.D1008E|ENST00000295237,p.D1230E|ENST00000409195,p.D1230E|uc002udx.3,p.D1230E	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.T3024G	p.D1008E	EVLKKIKTLKTEDIQKGNVLNCRWL	EVLKKIKTLKTEEIQKGNVLNCRWL	1.0	6.0	-	-	3942_2:168101592-168101592 T>G_EVLKKIKTLKTEEIQKGNVLNCRWL
7:134605392-134605392 T>G	0.0	3942	RECTAL	-	-	-	-	CALD1	ENST00000543443,p.S3A|uc011kpu.2,p.S3A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kpu.2	nonsynonymous SNV	exon1	c.T7G	p.S3A	MTSYMKVDRQWNAEI	MTAYMKVDRQWNAEI	7.0	7.0	unscreened	-	3942_7:134605392-134605392 T>G_MTAYMKVDRQWNAEI
6:26507022-26507022 A>G	0.0	3942	RECTAL	-	-	-	-	BTN1A1	uc003nif.4,p.E274G|ENST00000244513,p.E274G|NM_001732,p.E274G	protein_coding	uc003nif.4	nonsynonymous SNV	exon4	c.A821G	p.E274G	IGSIFFTWRLYNERPRERRNEFSSK	IGSIFFTWRLYNGRPRERRNEFSSK	1.0	5.0	-	-	3942_6:26507022-26507022 A>G_IGSIFFTWRLYNGRPRERRNEFSSK
7:134605388-134605388 G>A	0.0	3942	RECTAL	-	-	-	-	CALD1	uc011kpu.2,p.M1I|ENST00000543443,p.M1I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kpu.2	nonsynonymous SNV	exon1	c.G3A	p.M1I	MTSYMKVDRQWNA	ITSYMKVDRQWNA	7.0	7.0	unscreened	-	3942_7:134605388-134605388 G>A_ITSYMKVDRQWNA
16:76501351-76501351 T>G	0.0	3942	RECTAL	-	-	-	-	CNTNAP4	uc002fex.1,p.I532S|uc010chb.1,p.I456S|uc002fev.1,p.I393S|ENST00000377504,p.I480S|ENST00000476707,p.I532S|NM_138994,p.I456S|ENST00000478060,p.I456S|uc002few.2,p.I504S|ENST00000307431,p.I528S	retained_intron, protein_coding, processed_transcript, TEC	uc010chb.1	nonsynonymous SNV	exon9	c.T1367G	p.I456S	RLISISGKVVDLISVQQGSLGNFSD	RLISISGKVVDLSSVQQGSLGNFSD	1.0	7.0	-	-	3942_16:76501351-76501351 T>G_RLISISGKVVDLSSVQQGSLGNFSD
2:110065700-110065700 T>C	0.0	3942	RECTAL	-	-	-	-	SH3RF3	uc010ywt.1,p.S635P|ENST00000418513,p.S635P|ENST00000309415,p.S635P|NM_001099289,p.S635P	protein_coding	uc010ywt.1	nonsynonymous SNV	exon8	c.T1903C	p.S635P	ATVSPLRTQNSPSRLPATSLRPHSV	ATVSPLRTQNSPPRLPATSLRPHSV	3.0	6.0	-	-	3942_2:110065700-110065700 T>C_ATVSPLRTQNSPPRLPATSLRPHSV
X:34149359-34149359 C>T	0.0	3942	RECTAL	-	-	ID=COSM304713;OCCURENCE=2(large_intestine)	-	FAM47A	uc004ddg.3,p.R346Q|NM_203408,p.R346Q|ENST00000346193,p.R346Q	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.G1037A	p.R346Q	ESHLRLEHSKTRRGSSLRSEPSETG	ESHLRLEHSKTRQGSSLRSEPSETG	1.0	7.0	-	-	3942_X:34149359-34149359 C>T_ESHLRLEHSKTRQGSSLRSEPSETG
2:23980893-23980893 T>A	0.0	3942	RECTAL	-	-	-	-	ATAD2B	uc002rei.4,p.K1153I|uc002rek.4,p.K1158I|uc002rej.4,p.K326I|ENST00000238789,p.K1158I|NM_001242338,p.K1153I|NM_017552,p.K1158I	retained_intron, protein_coding, processed_transcript	uc002rek.4	nonsynonymous SNV	exon25	c.A3473T	p.K1158I	KGIIKKRKVNNLKKDEEDTKFADYE	KGIIKKRKVNNLIKDEEDTKFADYE	4.0	6.0	-	-	3942_2:23980893-23980893 T>A_KGIIKKRKVNNLIKDEEDTKFADYE
2:179455315-179455315 T>G	0.0	3942	RECTAL	-	-	-	-	TTN	NM_001256850,p.K18738N|ENST00000359218,p.K11439N|NM_001267550,p.K20379N|uc021vsy.2,p.K17811N|uc021vta.2,p.K11439N|NM_003319,p.K11314N|uc021vsz.2,p.K11506N|ENST00000460472,p.K11314N|NM_133437,p.K11506N|ENST00000589042,p.K20379N|ENST00000342992,p.K17811N|NM_133432,p.K11439N|uc031rqd.1,p.K18738N|ENST00000342175,p.K11506N|uc031rqc.1,p.K20379N|NM_133378,p.K17811N|uc021vtb.2,p.K11314N|ENST00000591111,p.K18738N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon254	c.A56214C	p.K18738N	RPIKPPGPPINPKLKDKSRETADLV	RPIKPPGPPINPNLKDKSRETADLV	1.0	6.0	-	-	3942_2:179455315-179455315 T>G_RPIKPPGPPINPNLKDKSRETADLV
21:40969734-40969734 C>G	0.0	3942	RECTAL	-	-	-	-	B3GALT5-AS1	uc010gok.4,p.G112A|ENST00000380612,p.G112A	protein_coding, processed_transcript	uc010gok.4	nonsynonymous SNV	exon3	c.G335C	p.G112A	CRNEVLVSLLAVGQGLPSASGGRLP	CRNEVLVSLLAVAQGLPSASGGRLP	1.0	5.0	unscreened	-	3942_21:40969734-40969734 C>G_CRNEVLVSLLAVAQGLPSASGGRLP
3:13655524-13655524 C>T	0.0	3942	RECTAL	-	-	-	2	FBLN2	uc011avb.2,p.A530V|NM_001004019,p.A530V|ENST00000535798,p.A556V|NM_001998,p.A530V|ENST00000295760,p.A530V|NM_001165035,p.A530V|uc011ava.2,p.A530V|uc011avc.2,p.A530V|ENST00000404922,p.A530V|ENST00000492059,p.A530V|uc011auz.2,p.A556V	retained_intron, protein_coding	uc011avc.2	nonsynonymous SNV	exon5	c.C1589T	p.A530V	CCDCCGLGLRVRAEGQSCESNPNLG	CCDCCGLGLRVRVEGQSCESNPNLG	6.0	7.0	-	-	3942_3:13655524-13655524 C>T_CCDCCGLGLRVRVEGQSCESNPNLG
12:100536410-100536410 C>T	0.0	3942	RECTAL	-	-	-	-	UHRF1BP1L	NM_001006947,p.A2T|ENST00000547428,p.A2T|uc001tgr.3,p.A2T|uc001tgq.3,p.A2T|ENST00000279907,p.A2T|ENST00000356828,p.A2T|NM_015054,p.A2T	retained_intron, protein_coding, nonsense_mediated_decay	uc001tgr.3	nonsynonymous SNV	exon1	c.G4A	p.A2T	MAGIIKKQILKHLS	MTGIIKKQILKHLS	5.0	4.0	-	-	3942_12:100536410-100536410 C>T_MTGIIKKQILKHLS
10:7214605-7214605 C>G	0.0	3942	RECTAL	-	-	-	-	SFMBT2	ENST00000361972,p.R668T|uc009xio.2,p.R668T|NM_001029880,p.R668T|uc001ijn.2,p.R668T|uc010qay.2,p.R503T|ENST00000397167,p.R668T|NM_001018039,p.R668T	protein_coding	uc010qay.2	nonsynonymous SNV	exon13	c.G1508C	p.R503T	HTKTKYTYYYGKRKKISKPPIGESN	HTKTKYTYYYGKTKKISKPPIGESN	2.0	7.0	-	-	3942_10:7214605-7214605 C>G_HTKTKYTYYYGKTKKISKPPIGESN
4:41629001-41629001 A>-	0.0	3942	RECTAL	-	-	-	-	LIMCH1	uc003gvz.4,p.S334fs|ENST00000503057,p.S334fs	protein_coding, processed_transcript	uc003gvz.4	frameshift deletion	exon8	c.1002delA	p.S334fs	KSDGSKQLSKGISKKRSLEYKRNQG	KSDGSKQLSKGISKKEV	3.0	7.0	unscreened	-	3942_4:41629001-41629001 A>-_KSDGSKQLSKGISKKEV
6:160225665-160225665 C>T	0.0	3942	RECTAL	-	-	ID=COSM176990;OCCURENCE=1(large_intestine)	-	PNLDC1	NM_001271862,p.R153C|ENST00000275275,p.R142C|uc003qsx.2,p.R142C|ENST00000392167,p.R153C|uc003qsy.2,p.R153C|NM_173516,p.R142C	protein_coding	uc003qsy.2	nonsynonymous SNV	exon6	c.C457T	p.R153C	IRHDILTGNWRVRSSPDKDQIKVVI	IRHDILTGNWRVCSSPDKDQIKVVI	2.0	6.0	-	-	3942_6:160225665-160225665 C>T_IRHDILTGNWRVCSSPDKDQIKVVI
12:25398284-25398284 C>T	1.0	3995	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	ENST00000556131,p.G12D|NM_004985,p.G12D|NM_033360,p.G12D|uc001rgq.1,p.G12D|ENST00000256078,p.G12D|uc001rgp.1,p.G12D|ENST00000311936,p.G12D|ENST00000557334,p.G12D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35A	p.G12D	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGADGVGKSALTIQLI	9.0	6.0	CD8	-	3995_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI
5:79747496-79747496 G>A	1.0	3995	COLON	-	-	-	-	ZFYVE16	uc003kgp.3,p.R1192H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kgp.3	nonsynonymous SNV	exon10	c.G3575A	p.R1192H	KLEIPWAKVFPMRLMLRLGAEYKGK	KLEIPWAKVFPMHLMLRLGAEYKGK	8.0	4.0	-	-	3995_5:79747496-79747496 G>A_KLEIPWAKVFPMHLMLRLGAEYKGK
5:79747496-79747496 G>A	1.0	3995	COLON	-	-	-	-	ZFYVE16	uc003kgr.4,p.R1192H|uc003kgt.4,p.R280H|ENST00000510158,p.R1192H|NM_014733,p.R1192H|ENST00000338008,p.R1192H|uc003kgq.4,p.R1192H|NM_001284236,p.R1192H|NM_001105251,p.R1192H|ENST00000505560,p.R1192H|uc003kgs.4,p.R1192H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kgt.4	nonsynonymous SNV	exon6	c.G839A	p.R280H	KLEIPWAKVFPMRLMLRLGAEYKAY	KLEIPWAKVFPMHLMLRLGAEYKAY	8.0	4.0	-	-	3995_5:79747496-79747496 G>A_KLEIPWAKVFPMHLMLRLGAEYKAY
2:39262581-39262581 C>A	1.0	3995	COLON	-	-	ID=COSM575083;OCCURENCE=1(lung)	-	SOS1	NM_005633,p.D309Y|ENST00000395038,p.D309Y|ENST00000426016,p.D309Y|uc002rrl.3,p.D41Y|uc002rrk.4,p.D309Y|ENST00000428721,p.D252Y|ENST00000402219,p.D309Y	retained_intron, protein_coding, processed_transcript	uc002rrl.3	nonsynonymous SNV	exon2	c.G121T	p.D41Y	SYARDILRPGFHDRFLSQLSKPGAA	SYARDILRPGFHYRFLSQLSKPGAA	7.0	10.0	-	-	3995_2:39262581-39262581 C>A_SYARDILRPGFHYRFLSQLSKPGAA
17:78313272-78313272 A>G	0.0	3995	COLON	-	-	-	1	RNF213	ENST00000508628,p.N1751S|NM_001256071,p.N1702S|uc021uen.2,p.N1702S|ENST00000582970,p.N1702S	retained_intron, protein_coding, processed_transcript	uc021uen.2	nonsynonymous SNV	exon26	c.A5105G	p.N1702S	FVTQKRMEHFYLNFYTAEQLVYLST	FVTQKRMEHFYLSFYTAEQLVYLST	9.0	5.0	CD8	-	3995_17:78313272-78313272 A>G_FVTQKRMEHFYLSFYTAEQLVYLST
1:219352530-219352530 T>G	1.0	3995	COLON	-	-	-	-	LYPLAL1	uc001hlq.4,p.L45V|NM_001300769,p.L45V|NM_001300770,p.L45V|NM_138794,p.L45V|ENST00000366927,p.L45V|uc009xds.3,p.L45V|ENST00000366928,p.L45V|uc001hlr.4,p.L45V	protein_coding, processed_transcript	uc009xds.3	nonsynonymous SNV	exon2	c.T133G	p.L45V	SGQGLRMWIKQVLNQDLTFQHIKII	SGQGLRMWIKQVVNQDLTFQHIKII	9.0	9.0	-	-	3995_1:219352530-219352530 T>G_SGQGLRMWIKQVVNQDLTFQHIKII
10:135107096-135107096 G>A	1.0	3995	COLON	-	-	-	-	TUBGCP2	uc009ybk.2,p.P265L|ENST00000482278,p.P265L|uc001lmg.2,p.P265L|NM_006659,p.P265L|uc010qvc.2,p.P293L|ENST00000417178,p.P135L|ENST00000252936,p.P265L|ENST00000368563,p.P265L|uc010qvd.2,p.P135L|ENST00000543663,p.P293L|NM_001256617,p.P293L|NM_001256618,p.P135L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qvd.2	nonsynonymous SNV	exon5	c.C404T	p.P135L	DLSIRELVHRILPVAASYSAVTRFI	DLSIRELVHRILLVAASYSAVTRFI	9.0	8.0	CD8	-	3995_10:135107096-135107096 G>A_DLSIRELVHRILLVAASYSAVTRFI
8:38913112-38913112 C>G	1.0	3995	COLON	-	-	-	-	ADAM9	ENST00000487273,p.T471S|NM_003816,p.T471S|ENST00000481873,p.T471S|ENST00000468065,p.T471S|ENST00000379917,p.T471S|uc003xmr.3,p.T471S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xmr.3	nonsynonymous SNV	exon14	c.C1412G	p.T471S	DCCKDCRFLPGGTLCRGKTSECDVP	DCCKDCRFLPGGSLCRGKTSECDVP	9.0	8.0	-	-	3995_8:38913112-38913112 C>G_DCCKDCRFLPGGSLCRGKTSECDVP
16:67318800-67318800 G>C	1.0	3995	COLON	-	-	-	-	PLEKHG4	uc002ess.4,p.R626P|NM_001129729,p.R626P|NM_015432,p.R626P|NM_001129731,p.R545P|uc002eso.4,p.R626P|ENST00000450733,p.R545P|ENST00000360461,p.R626P|uc010ceg.3,p.R545P|ENST00000379344,p.R626P|NM_001129727,p.R626P|NM_001129728,p.R626P|uc002esp.4,p.R433P|uc002esq.4,p.R626P|ENST00000427155,p.R626P|uc010cef.3,p.R626P	retained_intron, protein_coding, nonsense_mediated_decay	uc010ceg.3	nonsynonymous SNV	exon11	c.G1634C	p.R545P	TGLGSEAIRQECRWAWARCQDTWLA	TGLGSEAIRQECPWAWARCQDTWLA	7.0	8.0	-	-	3995_16:67318800-67318800 G>C_TGLGSEAIRQECPWAWARCQDTWLA
4:146807288-146807288 C>A	1.0	3995	COLON	-	-	-	-	ZNF827	ENST00000379448,p.G430V|ENST00000513320,p.G80V|uc003ikn.3,p.G430V|NM_178835,p.G430V|uc003ikm.3,p.G430V|uc010iox.3,p.G80V|ENST00000508784,p.G430V	retained_intron, protein_coding, processed_transcript	uc010iox.3	nonsynonymous SNV	exon3	c.G239T	p.G80V	KSHMKVHQHQDRGETFQCQLCPFTS	KSHMKVHQHQDRVETFQCQLCPFTS	7.0	7.0	-	-	3995_4:146807288-146807288 C>A_KSHMKVHQHQDRVETFQCQLCPFTS
2:69573085-69573086 CT>-	1.0	3995	COLON	-	-	-	-	GFPT1	ENST00000357308,p.E352fs|ENST00000361060,p.E334fs|uc002sfh.3,p.E334fs|uc002sfi.2,p.E352fs|NM_002056,p.E334fs|NM_001244710,p.E352fs	protein_coding, processed_transcript	uc002sfi.2	frameshift deletion	exon12	c.1055_1056del	p.E352fs	SSFMQKEIFEQPESVVNTMRGRVNF	SSFMQKEIFEQPVCREHNERKSQL	9.0	9.0	-	-	3995_2:69573085-69573086 CT>-_SSFMQKEIFEQPVCREHNERKSQL
17:18150240-18150240 C>T	0.0	3995	COLON	-	-	-	-	FLII	uc002gsq.2,p.V806I|uc002gsr.2,p.V935I|uc002gss.2,p.V934I|uc010vxo.2,p.V880I|ENST00000379450,p.V849I|uc031qzd.1,p.V924I|ENST00000327031,p.V935I|uc010vxn.2,p.V904I|NM_001256264,p.V924I|NM_002018,p.V935I|NM_001256265,p.V880I|ENST00000545457,p.V880I|ENST00000579294,p.V924I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qzd.1	nonsynonymous SNV	exon22	c.G2770A	p.V924I	EEFGHFYTQDCYVFLCRYWVPVEYE	EEFGHFYTQDCYIFLCRYWVPVEYE	10.0	5.0	-	-	3995_17:18150240-18150240 C>T_EEFGHFYTQDCYIFLCRYWVPVEYE
21:47423793-47423793 G>A	0.0	3995	COLON	-	-	-	-	COL6A1	uc002zhu.1,p.V985I|uc002zhv.1,p.V316I|NM_001848,p.V985I|ENST00000361866,p.V985I	retained_intron, protein_coding, processed_transcript	uc002zhv.1	nonsynonymous SNV	exon6	c.G946A	p.V316I	VVGRQVNEPHIRVLVTGKTAEYDVA	VVGRQVNEPHIRILVTGKTAEYDVA	9.0	1.0	unscreened	-	3995_21:47423793-47423793 G>A_VVGRQVNEPHIRILVTGKTAEYDVA
10:63851141-63851141 A>G	0.0	3995	COLON	-	-	-	-	ARID5B	uc001jlt.2,p.N640S|ENST00000309334,p.N397S|NM_001244638,p.N397S|uc001jlu.2,p.N397S|ENST00000279873,p.N640S|NM_032199,p.N640S	protein_coding	uc001jlu.2	nonsynonymous SNV	exon7	c.A1190G	p.N397S	VKVDQLGSDDIHNALKQTPKVLVVQ	VKVDQLGSDDIHSALKQTPKVLVVQ	6.0	7.0	-	-	3995_10:63851141-63851141 A>G_VKVDQLGSDDIHSALKQTPKVLVVQ
7:30793463-30793463 C>T	0.0	3995	COLON	-	-	ID=COSM185130;OCCURENCE=1(large_intestine),1(prostate)	-	INMT	NM_006774,p.R91W|uc010kwd.1,p.R90W|ENST00000013222,p.R91W|NM_001199219,p.R90W|ENST00000458257,p.R90W|uc003tbs.1,p.R91W|ENST00000409539,p.R90W	 processed_transcript,protein_coding	uc010kwd.1	nonsynonymous SNV	exon2	c.C268T	p.R90W	QDITLSDFTDRNREELEKWLKKEPG	QDITLSDFTDRNWEELEKWLKKEPG	6.0	10.0	-	-	3995_7:30793463-30793463 C>T_QDITLSDFTDRNWEELEKWLKKEPG
10:135345127-135345127 C>T	0.0	3995	COLON	0.0009	-	ID=COSM204515;OCCURENCE=1(large_intestine)	-	CYP2E1	NM_000773,p.R126W|ENST00000252945,p.R126W|ENST00000463117,p.R126W|ENST00000421586,p.R39W|uc001lnj.1,p.R126W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lnj.1	nonsynonymous SNV	exon3	c.C376T	p.R126W	IIFNNGPTWKDIRRFSLTTLRNYGM	IIFNNGPTWKDIWRFSLTTLRNYGM	5.0	2.0	-	-	3995_10:135345127-135345127 C>T_IIFNNGPTWKDIWRFSLTTLRNYGM
21:43802219-43802219 T>A	0.0	3995	COLON	-	-	-	-	TMPRSS3	uc002zba.2,p.N176Y|uc002zbd.4,p.N303Y|ENST00000380399,p.N387Y|NM_024022,p.N303Y|ENST00000291532,p.N303Y|uc002zaz.3,p.N176Y|uc002zbb.3,p.N303Y|NM_001256317,p.N303Y|NM_032404,p.N176Y|ENST00000398405,p.N301Y|uc002zay.2,p.N61Y|uc002zbc.3,p.N303Y|NM_032405,p.N303Y|ENST00000398397,p.N303Y|ENST00000433957,p.N303Y	retained_intron, protein_coding, processed_transcript	uc002zbd.4	nonsynonymous SNV	exon9	c.A907T	p.N303Y	VYHSKYKPKRLGNDIALMKLAGPLT	VYHSKYKPKRLGYDIALMKLAGPLT	8.0	3.0	-	-	3995_21:43802219-43802219 T>A_VYHSKYKPKRLGYDIALMKLAGPLT
19:58549329-58549329 G>A	0.0	3995	COLON	-	-	-	-	ZSCAN1	NM_182572,p.R42Q|uc002qrc.1,p.R42Q|ENST00000601162,p.R42Q|ENST00000391700,p.R42Q|uc002qrb.1,p.R42Q|ENST00000282326,p.R42Q|uc002qra.1,p.R42Q	protein_coding	uc002qrc.1	nonsynonymous SNV	exon3	c.G125A	p.R42Q	SPRDTEAQRLRFRQFQYHVASGPHL	SPRDTEAQRLRFQQFQYHVASGPHL	1.0	4.0	-	-	3995_19:58549329-58549329 G>A_SPRDTEAQRLRFQQFQYHVASGPHL
19:19045213-19045213 C>T	1.0	3995	COLON	-	-	-	-	HOMER3	ENST00000355887,p.E104K|uc002nkw.2,p.E104K|NM_001145721,p.E104K|ENST00000539827,p.E104K|NM_004838,p.E104K|uc002nku.2,p.E104K|NM_001145722,p.E104K|ENST00000596482,p.E104K|ENST00000542541,p.E104K|ENST00000433218,p.E104K|uc002nkv.2,p.E104K|ENST00000392351,p.E104K|uc010ebz.2,p.E104K|ENST00000221222,p.E104K|ENST00000600077,p.E104K	retained_intron, protein_coding	uc010ebz.2	nonsynonymous SNV	exon5	c.G310A	p.E104K	GFASEQHLTQFAEKFQEVKEAARLA	GFASEQHLTQFAKKFQEVKEAARLA	7.0	8.0	-	-	3995_19:19045213-19045213 C>T_GFASEQHLTQFAKKFQEVKEAARLA
1:24019123-24019123 C>T	1.0	3995	COLON	-	-	-	-	RPL11	uc001bhl.3,p.P10S|NM_001199802,p.P10S	protein_coding, processed_transcript	uc001bhl.3	nonsynonymous SNV	exon2	c.C28T	p.P10S	MADQGEKENPMRELRIRKLCLN	MADQGEKENSMRELRIRKLCLN	10.0	9.0	-	-	3995_1:24019123-24019123 C>T_MADQGEKENSMRELRIRKLCLN
18:74607229-74607229 C>T	1.0	3995	COLON	-	-	-	-	ZNF236	ENST00000320610,p.R560C|ENST00000543926,p.R558C|uc002lmi.3,p.R558C|NM_007345,p.R558C|ENST00000253159,p.R558C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lmi.3	nonsynonymous SNV	exon10	c.C1672T	p.R558C	SFSTSGSLKVHIRLHTGVRPFACPH	SFSTSGSLKVHICLHTGVRPFACPH	5.0	9.0	-	-	3995_18:74607229-74607229 C>T_SFSTSGSLKVHICLHTGVRPFACPH
7:42005721-42005721 C>A	0.0	3995	COLON	-	-	-	-	GLI3	uc011kbg.2,p.A925S|ENST00000395925,p.A984S|uc011kbh.2,p.A984S|NM_000168,p.A984S	retained_intron, protein_coding, processed_transcript	uc011kbh.2	nonsynonymous SNV	exon15	c.G2950T	p.A984S	PVHAPRRCSDGGAHGYGRRHLQPHD	PVHAPRRCSDGGSHGYGRRHLQPHD	1.0	1.0	unscreened	-	3995_7:42005721-42005721 C>A_PVHAPRRCSDGGSHGYGRRHLQPHD
1:24019123-24019123 C>T	1.0	3995	COLON	-	-	-	-	RPL11	NM_000975,p.P11S|uc001bhk.3,p.P11S|ENST00000374550,p.P11S	protein_coding, processed_transcript	uc001bhk.3	nonsynonymous SNV	exon2	c.C31T	p.P11S	MAQDQGEKENPMRELRIRKLCLN	MAQDQGEKENSMRELRIRKLCLN	10.0	9.0	-	-	3995_1:24019123-24019123 C>T_MAQDQGEKENSMRELRIRKLCLN
8:141285856-141285856 A>C	1.0	3995	COLON	-	-	-	-	TRAPPC9	ENST00000438773,p.Y727D|uc003yvi.1,p.Y718D|uc003yvh.2,p.Y825D|NM_001160372,p.Y727D|NM_031466,p.Y825D|uc010mel.1,p.Y148D|uc003yvj.2,p.Y727D|ENST00000389327,p.Y718D|ENST00000389328,p.Y825D	retained_intron, protein_coding, processed_transcript	uc010mel.1	nonsynonymous SNV	exon4	c.T442G	p.Y148D	GDEISTNVSVQLYNGESQQLIIKLE	GDEISTNVSVQLDNGESQQLIIKLE	7.0	3.0	-	-	3995_8:141285856-141285856 A>C_GDEISTNVSVQLDNGESQQLIIKLE
15:22383403-22383403 G>C	0.0	3995	COLON	-	-	-	-	OR4N4	uc010tzv.2,p.D311H|ENST00000328795,p.D311H|uc001yuc.1,p.D311H|NM_001005241,p.D311H	protein_coding	uc010tzv.2	nonsynonymous SNV	exon1	c.G931C	p.D311H	KRLLSRHVVCQVDFIIRN	KRLLSRHVVCQVHFIIRN	1.0	1.0	-	-	3995_15:22383403-22383403 G>C_KRLLSRHVVCQVHFIIRN
11:10875744-10875744 C>T	1.0	3995	COLON	-	-	-	-	ZBED5	uc021qdu.1,p.R250H|NM_001143667,p.R250H|uc009ygg.3,p.R250H|uc001mji.4,p.R250H|uc009ygh.3,p.R250H|ENST00000432999,p.R250H|NM_021211,p.R250H|ENST00000413761,p.R250H	protein_coding, processed_transcript	uc021qdu.1	nonsynonymous SNV	exon1	c.G749A	p.R250H	IDAVQLSNSTVARRIKDLAADIEEE	IDAVQLSNSTVAHRIKDLAADIEEE	9.0	7.0	-	-	3995_11:10875744-10875744 C>T_IDAVQLSNSTVAHRIKDLAADIEEE
18:71822556-71822556 C>T	0.0	3995	COLON	-	-	-	-	TIMM21	uc010dqr.1,p.T127M|ENST00000169551,p.T127M|NM_014177,p.T127M|ENST00000580087,p.T127M	retained_intron, protein_coding	uc010dqr.1	nonsynonymous SNV	exon3	c.C380T	p.T127M	LFGISITGGLFYTIFKELFSSSSPS	LFGISITGGLFYMIFKELFSSSSPS	7.0	5.0	-	-	3995_18:71822556-71822556 C>T_LFGISITGGLFYMIFKELFSSSSPS
4:107156504-107156504 G>T	1.0	3995	COLON	-	-	-	-	TBCK	NM_033115,p.N394K|ENST00000361687,p.N394K|uc003hye.2,p.N418K|ENST00000273980,p.N457K|ENST00000432496,p.N457K|NM_001163437,p.N418K|NM_001163436,p.N457K|uc003hyf.2,p.N457K|uc003hyc.2,p.N394K|NM_001163435,p.N457K|uc003hyd.2,p.N285K|ENST00000394706,p.N418K|NM_001290768,p.N285K|uc003hyb.2,p.N200K|uc010ilv.2,p.N457K|ENST00000394708,p.N457K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ilv.2	nonsynonymous SNV	exon15	c.C1371A	p.N457K	FDRLLKAYPYKKNQIWKEARVDIPP	FDRLLKAYPYKKKQIWKEARVDIPP	8.0	6.0	-	-	3995_4:107156504-107156504 G>T_FDRLLKAYPYKKKQIWKEARVDIPP
17:74901372-74901372 G>A	0.0	3995	COLON	-	-	-	-	MGAT5B	uc002jti.3,p.R282H|ENST00000565043,p.R282H|ENST00000569840,p.R271H|uc002jth.3,p.R271H|NM_001199172,p.R271H|ENST00000301618,p.R271H|ENST00000428789,p.R282H|uc031rem.1,p.R271H|NM_198955,p.R282H|NM_144677,p.R271H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rem.1	nonsynonymous SNV	exon7	c.G812A	p.R271H	KRLTAQWALAAQRLAQKLGATQRDQ	KRLTAQWALAAQHLAQKLGATQRDQ	1.0	10.0	-	-	3995_17:74901372-74901372 G>A_KRLTAQWALAAQHLAQKLGATQRDQ
15:65236908-65236908 G>A	0.0	3995	COLON	-	-	-	-	ANKDD1A	uc002aoa.3,p.M375I|ENST00000380230,p.M375I|ENST00000487867,p.M284I|NM_182703,p.M375I|ENST00000395720,p.M375I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002aoa.3	nonsynonymous SNV	exon12	c.G1125A	p.M375I	VAVRSNHVSLVDMIIKADRFYRWEK	VAVRSNHVSLVDIIIKADRFYRWEK	4.0	1.0	unscreened	-	3995_15:65236908-65236908 G>A_VAVRSNHVSLVDIIIKADRFYRWEK
X:99657658-99657658 C>T	0.0	3995	COLON	-	-	-	-	PCDH19	uc004efw.4,p.R780H|uc010nmz.3,p.R827H|ENST00000373034,p.R827H|NM_001105243,p.R780H|NM_020766,p.R780H|ENST00000420881,p.R780H|ENST00000255531,p.R780H|uc004efx.4,p.R780H|NM_001184880,p.R827H	protein_coding, processed_transcript	uc010nmz.3	nonsynonymous SNV	exon3	c.G2480A	p.R827H	DYHQQTLPLGCRRSESTFLNVENQN	DYHQQTLPLGCRHSESTFLNVENQN	1.0	10.0	-	-	3995_X:99657658-99657658 C>T_DYHQQTLPLGCRHSESTFLNVENQN
7:99129474-99129476 AAG>-	0.0	3995	COLON	-	-	-	-	ZKSCAN5	ENST00000394170,p.708_708del|ENST00000451158,p.708_708del|uc003uqv.3,p.708_708del|uc003uqx.3,p.635_635del|uc010lfx.3,p.708_708del|uc003uqw.3,p.708_708del|NM_014569,p.708_708del|ENST00000326775,p.708_708del|uc003uqy.3,p.444_444del|NM_145102,p.708_708del	protein_coding, nonsense_mediated_decay	uc010lfx.3	nonframeshift deletion	exon7	c.2122_2124del	p.708_708del	EAYSWNLTVIEDKKIELQEQPYQCD	EAYSWNLTVIEDKIELQEQPYQCDI	5.0	3.0	-	-	3995_7:99129474-99129476 AAG>-_EAYSWNLTVIEDKIELQEQPYQCDI
2:73680332-73680332 G>T	0.0	3995	COLON	-	-	-	-	ALMS1	ENST00000377715,p.Q2225H|ENST00000264448,p.Q2225H|ENST00000423048,p.Q503H|uc002sjf.1,p.Q2183H|uc002sjg.3,p.Q1613H|ENST00000409009,p.Q2183H|uc002sjh.1,p.Q1613H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sjh.1	nonsynonymous SNV	exon1	c.G4839T	p.Q1613H	SSVSSNNVLLNSQADDRVVINKPES	SSVSSNNVLLNSHADDRVVINKPES	5.0	2.0	unscreened	-	3995_2:73680332-73680332 G>T_SSVSSNNVLLNSHADDRVVINKPES
X:37027439-37027439 G>A	0.0	3995	COLON	-	-	-	2	FAM47C	ENST00000358047,p.R319H|NM_001013736,p.R319H|uc004ddl.2,p.R319H	protein_coding	uc004ddl.2	nonsynonymous SNV	exon1	c.G956A	p.R319H	CLEPPKSRVSHLRPEPSETGVSHLH	CLEPPKSRVSHLHPEPSETGVSHLH	1.0	10.0	-	-	3995_X:37027439-37027439 G>A_CLEPPKSRVSHLHPEPSETGVSHLH
X:152686974-152686974 C>T	0.0	3995	COLON	-	-	-	-	ZFP92	uc011myo.2,p.T380M|ENST00000338647,p.T380M|NM_001136273,p.T380M	protein_coding	uc011myo.2	nonsynonymous SNV	exon4	c.C1139T	p.T380M	AVHGARRPAKAETARRLAGPGSTGP	AVHGARRPAKAEMARRLAGPGSTGP	1.0	10.0	-	-	3995_X:152686974-152686974 C>T_AVHGARRPAKAEMARRLAGPGSTGP
22:21385365-21385365 T>C	0.0	3995	COLON	-	-	-	-	SLC7A4	NM_004173,p.Y246C|ENST00000382932,p.Y246C|uc002zue.3,p.Y246C|uc002zud.3,p.Y246C|ENST00000403586,p.Y246C	protein_coding	uc002zue.3	nonsynonymous SNV	exon2	c.A737G	p.Y246C	FSGVMAGTASCFYAFVGFDVIAASS	FSGVMAGTASCFCAFVGFDVIAASS	4.0	8.0	-	-	3995_22:21385365-21385365 T>C_FSGVMAGTASCFCAFVGFDVIAASS
14:105054976-105054976 G>A	0.0	3995	COLON	-	-	-	-	C14orf180	uc010tyh.1,p.A99T|NM_001286399,p.A99T|ENST00000331952,p.A99T	protein_coding	uc010tyh.1	nonsynonymous SNV	exon5	c.G295A	p.A99T	ATATVRAVCVRPARAGPGPILRPGQ	ATATVRAVCVRPTRAGPGPILRPGQ	1.0	9.0	-	-	3995_14:105054976-105054976 G>A_ATATVRAVCVRPTRAGPGPILRPGQ
1:120611960-120611960 C>T	0.0	3995	COLON	0.15	rs139076095	ID=COSM1600651;OCCURENCE=1(thyroid),3(breast),13(urinary_tract),2(liver)	1	NOTCH2	uc001eik.3,p.A21T|NM_001200001,p.A21T|ENST00000256646,p.A21T|NM_024408,p.A21T|uc001eil.3,p.A21T	protein_coding, processed_transcript	uc001eil.3	nonsynonymous SNV	exon1	c.G61A	p.A21T	LWALLALWLCCAAPAHALQCRDGYE	LWALLALWLCCATPAHALQCRDGYE	5.0	7.0	unscreened	-	3995_1:120611960-120611960 C>T_LWALLALWLCCATPAHALQCRDGYE
18:44137326-44137326 C>T	0.0	3995	COLON	-	-	-	-	LOXHD1	ENST00000536736,p.E1115K|ENST00000441893,p.E48K|uc002lcg.1,p.E837K|ENST00000398722,p.E837K|ENST00000441551,p.E909K|uc010xcw.1,p.E1115K|uc010xcv.2,p.E48K|NM_144612,p.E1115K	retained_intron, protein_coding, nonsense_mediated_decay	uc010xcw.1	nonsynonymous SNV	exon21	c.G3343A	p.E1115K	FLDRIDITDMNNEITYYFPCQRWLA	FLDRIDITDMNNKITYYFPCQRWLA	3.0	7.0	-	-	3995_18:44137326-44137326 C>T_FLDRIDITDMNNKITYYFPCQRWLA
1:152800037-152800037 C>T	0.0	3995	COLON	-	-	-	-	LCE1A	ENST00000335123,p.P30L|uc010pdw.2,p.P30L|NM_178348,p.P30L	protein_coding	uc010pdw.2	nonsynonymous SNV	exon1	c.C89T	p.P30L	PKCPPKCPTPKCPPKCPPKCPPVSS	PKCPPKCPTPKCLPKCPPKCPPVSS	1.0	10.0	-	-	3995_1:152800037-152800037 C>T_PKCPPKCPTPKCLPKCPPKCPPVSS
13:51530587-51530587 A>-	0.0	3995	COLON	-	-	-	-	RNASEH2B	uc001vfa.4,p.K306fs|ENST00000336617,p.K306fs|NM_024570,p.K306fs	protein_coding, processed_transcript	uc001vfa.4	frameshift deletion	exon11	c.916delA	p.K306fs	MKSIDTFFGVKNKKKIGKV	MKSIDTFFGVKNKKKLERF	9.0	1.0	unscreened	-	3995_13:51530587-51530587 A>-_MKSIDTFFGVKNKKKLERF
5:63257006-63257006 G>A	0.0	3995	COLON	-	-	-	-	HTR1A	uc011cqt.3,p.R181C|NM_000524,p.R181C|ENST00000323865,p.R181C	protein_coding	uc011cqt.3	nonsynonymous SNV	exon1	c.C541T	p.R181C	IPPMLGWRTPEDRSDPDACTISKDH	IPPMLGWRTPEDCSDPDACTISKDH	1.0	6.0	unscreened	-	3995_5:63257006-63257006 G>A_IPPMLGWRTPEDCSDPDACTISKDH
1:210187027-210187027 C>G	0.0	3995	COLON	-	-	-	-	SYT14	NM_001146261,p.I82M|ENST00000399639,p.I37M|ENST00000534859,p.I37M|ENST00000472886,p.I37M|uc010psn.3,p.I82M|NM_153262,p.I37M|NM_001146262,p.I37M|NM_001146264,p.I82M|uc001hhs.5,p.I82M|ENST00000367019,p.I37M|ENST00000422431,p.I82M|uc001hht.5,p.I37M|uc009xcv.4,p.I37M	protein_coding, processed_transcript	uc010psn.3	nonsynonymous SNV	exon4	c.C246G	p.I82M	AVGFLSAVGVFIILMLLLFLYINKK	AVGFLSAVGVFIMLMLLLFLYINKK	1.0	9.0	-	-	3995_1:210187027-210187027 C>G_AVGFLSAVGVFIMLMLLLFLYINKK
1:174417940-174417940 C>T	0.0	3995	COLON	-	-	ID=COSM3400012;OCCURENCE=1(central_nervous_system)	-	GPR52	NM_005684,p.R231C|uc001gka.1,p.R231C|ENST00000367685,p.R231C	protein_coding	uc001gka.1	nonsynonymous SNV	exon1	c.C691T	p.R231C	VCFTYFHIFKICRQHTKEINDRRAR	VCFTYFHIFKICCQHTKEINDRRAR	1.0	2.0	-	-	3995_1:174417940-174417940 C>T_VCFTYFHIFKICCQHTKEINDRRAR
22:24086952-24086952 C>T	0.0	3995	COLON	-	-	-	-	ZNF70	ENST00000341976,p.G126R|uc021wmu.1,p.G126R|uc002zxs.3,p.G126R|NM_021916,p.G126R	protein_coding	uc021wmu.1	nonsynonymous SNV	exon1	c.G376A	p.G126R	PCDCAETDRGDSGPNAPHRTPQPAK	PCDCAETDRGDSRPNAPHRTPQPAK	4.0	1.0	unscreened	-	3995_22:24086952-24086952 C>T_PCDCAETDRGDSRPNAPHRTPQPAK
11:65392932-65392932 C>A	0.0	3995	COLON	-	-	-	-	PCNXL3	uc001oey.2,p.A1029D|ENST00000355703,p.A1029D|NM_032223,p.A1029D	retained_intron, protein_coding, processed_transcript	uc001oey.2	nonsynonymous SNV	exon18	c.C3086A	p.A1029D	LFPELEERSLETARAEPPDPLPDKM	LFPELEERSLETDRAEPPDPLPDKM	8.0	3.0	-	-	3995_11:65392932-65392932 C>A_LFPELEERSLETDRAEPPDPLPDKM
X:140984759-140984759 G>T	0.0	3995	COLON	-	-	-	-	MAGEC3	ENST00000544766,p.Q107H|ENST00000443323,p.Q27H|uc022cfh.1,p.Q107H|ENST00000409007,p.Q107H|uc010nsj.3,p.Q107H|NM_177456,p.Q107H|ENST00000298296,p.Q405H|ENST00000536088,p.Q107H|NM_138702,p.Q405H|uc004fbs.3,p.Q107H|uc011mwp.2,p.Q405H	protein_coding, processed_transcript	uc022cfh.1	nonsynonymous SNV	exon1	c.G321T	p.Q107H	EIPPQGPPKISPQGPPQSPPQSPLD	EIPPQGPPKISPHGPPQSPPQSPLD	1.0	2.0	-	-	3995_X:140984759-140984759 G>T_EIPPQGPPKISPHGPPQSPPQSPLD
17:72667756-72667756 G>A	0.0	3995	COLON	-	-	-	-	RAB37	uc010dfu.3,p.G11R|ENST00000340415,p.G11R|NM_175738,p.G11R|uc002jlc.2,p.G11R|uc002jld.2,p.G11R|ENST00000402449,p.G11R	retained_intron, protein_coding, nonsense_mediated_decay	uc010dfu.3	nonsynonymous SNV	exon1	c.G31A	p.G11R	MDLQRPDSYQGGAGPDFNDHVLH	MDLQRPDSYQRGAGPDFNDHVLH	5.0	3.0	-	-	3995_17:72667756-72667756 G>A_MDLQRPDSYQRGAGPDFNDHVLH
19:51217177-51217177 C>T	0.0	3995	COLON	-	-	ID=COSM3773117;OCCURENCE=1(pancreas)	-	SHANK1	uc002psx.1,p.E224K|ENST00000391814,p.E224K|NM_016148,p.E224K|ENST00000293441,p.E224K|ENST00000359082,p.E224K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002psx.1	nonsynonymous SNV	exon5	c.G670A	p.E224K	SGETPLTLAAQTEGSVEVIRTLCLG	SGETPLTLAAQTKGSVEVIRTLCLG	1.0	8.0	-	-	3995_19:51217177-51217177 C>T_SGETPLTLAAQTKGSVEVIRTLCLG
6:29641392-29641392 G>A	0.0	3995	COLON	-	-	-	-	ZFP57	NM_001109809,p.L166F|uc011dlw.2,p.L166F|ENST00000376881,p.L146F|ENST00000376883,p.L146F|ENST00000488757,p.L166F	protein_coding	uc011dlw.2	nonsynonymous SNV	exon4	c.C496T	p.L166F	SAPAGTMDRTRVLQASQAGPPFFCY	SAPAGTMDRTRVFQASQAGPPFFCY	1.0	7.0	-	-	3995_6:29641392-29641392 G>A_SAPAGTMDRTRVFQASQAGPPFFCY
13:103400144-103400144 A>C	0.0	3995	COLON	-	-	-	-	CCDC168	NM_001146197,p.I968S|uc001vpm.3,p.I968S	protein_coding, processed_transcript	uc001vpm.3	nonsynonymous SNV	exon4	c.T2903G	p.I968S	QEVQPQTLSTQTILENSPCPMMDPF	QEVQPQTLSTQTSLENSPCPMMDPF	7.0	4.0	-	-	3995_13:103400144-103400144 A>C_QEVQPQTLSTQTSLENSPCPMMDPF
19:17397498-17397501 TGTT>-	0.0	3995	COLON	-	-	-	-	ANKLE1	ENST00000598347,p.C590fs|uc010xpn.1,p.C644fs|NM_001278444,p.C644fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010xpn.1	frameshift deletion	exon8	c.1930_1933del	p.C644fs	CVCVCVCVCVCVCLCVCVCV	CVCVCVCVCVCVCVCVCVC	1.0	1.0	unscreened	-	3995_19:17397498-17397501 TGTT>-_CVCVCVCVCVCVCVCVCVC
5:176827176-176827176 C>T	0.0	3995	COLON	-	-	-	-	PFN3	ENST00000358571,p.M134I|NM_001029886,p.M134I|uc003mgl.2,p.M134I	protein_coding	uc003mgl.2	nonsynonymous SNV	exon1	c.G402A	p.M134I	NKTVHELIRGLRMQGA	NKTVHELIRGLRIQGA	1.0	5.0	-	-	3995_5:176827176-176827176 C>T_NKTVHELIRGLRIQGA
10:123842776-123842776 C>T	0.0	3995	COLON	-	-	-	-	TACC2	ENST00000453444,p.A254V|uc009xzx.3,p.A254V|ENST00000515603,p.A254V|ENST00000515273,p.A254V|uc010qtv.2,p.A254V|ENST00000334433,p.A254V|NM_206862,p.A254V|ENST00000369005,p.A254V|NM_001291876,p.A254V|NM_001291877,p.A254V|uc001lfv.3,p.A254V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qtv.2	nonsynonymous SNV	exon4	c.C761T	p.A254V	GVASVQVTPEAPAAAQQGTESSAVL	GVASVQVTPEAPVAAQQGTESSAVL	9.0	3.0	unscreened	-	3995_10:123842776-123842776 C>T_GVASVQVTPEAPVAAQQGTESSAVL
5:55110902-55110902 G>A	0.0	3995	COLON	-	-	ID=COSM3784914,COSM3784916,COSM3784915;OCCURENCE=1(pancreas)	-	DDX4	ENST00000511853,p.R481H|NM_024415,p.R630H|uc003jqg.4,p.R630H|NM_001166533,p.R610H|uc003jqj.3,p.R481H|NM_001166534,p.R481H|ENST00000505374,p.R630H|uc010ivz.3,p.R610H|uc003jqh.4,p.R596H|ENST00000354991,p.R596H|ENST00000353507,p.R596H|NM_001142549,p.R596H|ENST00000514278,p.R610H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ivz.3	nonsynonymous SNV	exon19	c.G1829A	p.R610H	PSTIDEYVHRIGRTGRCGNTGRAIS	PSTIDEYVHRIGHTGRCGNTGRAIS	1.0	8.0	-	-	3995_5:55110902-55110902 G>A_PSTIDEYVHRIGHTGRCGNTGRAIS
2:100916203-100916203 C>T	0.0	3995	COLON	-	-	-	-	LONRF2	NM_198461,p.A415T|ENST00000393437,p.A415T|uc002tal.4,p.A415T|ENST00000409647,p.A172T	protein_coding	uc002tal.4	nonsynonymous SNV	exon5	c.G1243A	p.A415T	FPDDVEDAPDLNAPGKIPKKDLSLQ	FPDDVEDAPDLNTPGKIPKKDLSLQ	1.0	2.0	-	-	3995_2:100916203-100916203 C>T_FPDDVEDAPDLNTPGKIPKKDLSLQ
12:11139443-11139443 T>C	0.0	3995	COLON	-	-	-	-	TAS2R50	NM_176890,p.Y6C|uc001qzl.2,p.Y6C|ENST00000506868,p.Y6C	protein_coding	uc001qzl.2	nonsynonymous SNV	exon1	c.A17G	p.Y6C	MITFLYIFFSILIMVLFV	MITFLCIFFSILIMVLFV	1.0	7.0	-	-	3995_12:11139443-11139443 T>C_MITFLCIFFSILIMVLFV
6:26184118-26184118 G>C	0.0	3995	COLON	-	-	-	-	HIST1H2BE	ENST00000356530,p.R32P|NM_003523,p.R32P|uc003ngt.3,p.R32P	protein_coding	uc003ngt.3	nonsynonymous SNV	exon1	c.G95C	p.R32P	TKAQKKDGKKRKRSRKESYSVYVYK	TKAQKKDGKKRKPSRKESYSVYVYK	1.0	2.0	-	-	3995_6:26184118-26184118 G>C_TKAQKKDGKKRKPSRKESYSVYVYK
1:152284828-152284828 G>A	0.0	3995	COLON	-	-	-	-	FLG	ENST00000368799,p.P845L|NM_002016,p.P845L|uc001ezu.1,p.P845L	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.C2534T	p.P845L	ASQDGQDTIRGHPGSSRRGRQGSHH	ASQDGQDTIRGHLGSSRRGRQGSHH	1.0	2.0	-	-	3995_1:152284828-152284828 G>A_ASQDGQDTIRGHLGSSRRGRQGSHH
4:83411267-83411267 A>C	0.0	3995	COLON	-	-	-	-	TMEM150C	uc003hmy.1,p.V163G|ENST00000515780,p.V163G|ENST00000449862,p.V163G|NM_001080506,p.V163G|uc011ccj.1,p.V193G	protein_coding	uc011ccj.1	nonsynonymous SNV	exon7	c.T578G	p.V193G	TLKVNIKNEGRRVGIPRVILSASIT	TLKVNIKNEGRRGGIPRVILSASIT	6.0	6.0	-	-	3995_4:83411267-83411267 A>C_TLKVNIKNEGRRGGIPRVILSASIT
15:89381919-89381941 CATCCCCCAACCGTCCCCGCTGA>-	0.0	3995	COLON	-	-	-	-	ACAN	uc002bmx.3,p.S32fs|ENST00000559004,p.S32fs|ENST00000558207,p.S32fs|ENST00000439576,p.S32fs|ENST00000561243,p.S32fs|ENST00000352105,p.S32fs|uc010upo.1,p.S32fs|NM_013227,p.S32fs|NM_001135,p.S32fs|uc010upp.1,p.S32fs	retained_intron, protein_coding	uc010upp.1	frameshift deletion	exon3	c.96_118del	p.S32fs	VETSDHDNSLSVSIPQPSPLRVLLG	VETSDHDNSLSVRGPPGDLPHHPLLFHRPHAPCDHRPFYRPTGPKNQVEPCVQGEGGSAAGGH	3.0	4.0	-	-	3995_15:89381919-89381941 CATCCCCCAACCGTCCCCGCTGA>-_VETSDHDNSLSVRGPPGDLPHHPLLFHRPHAPCDHRPFYRPTGPKNQVEPCVQGEGGSAAGGH
20:5903470-5903470 A>T	0.0	3995	COLON	-	-	-	-	CHGB	ENST00000378961,p.E227V|uc002wmg.3,p.E227V|ENST00000455042,p.E207V|NM_001819,p.E227V	protein_coding, processed_transcript	uc002wmg.3	nonsynonymous SNV	exon4	c.A680T	p.E227V	ARSETHAAGHSQEKTHSREKSSQES	ARSETHAAGHSQVKTHSREKSSQES	2.0	6.0	-	-	3995_20:5903470-5903470 A>T_ARSETHAAGHSQVKTHSREKSSQES
2:73680334-73680334 C>-	0.0	3995	COLON	-	-	-	-	ALMS1	uc002sje.1,p.A2226fs|uc002sjh.1,p.A1614fs|uc002sjf.1,p.A2184fs|ENST00000409009,p.A2184fs|ENST00000264448,p.A2226fs|NM_015120,p.A2226fs|uc002sjg.3,p.A1614fs|ENST00000423048,p.A504fs|ENST00000377715,p.A2226fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sjh.1	frameshift deletion	exon1	c.4841delC	p.A1614fs	SVSSNNVLLNSQADDRVVINKPESA	SVSSNNVLLNSQVMTEL	5.0	3.0	unscreened	-	3995_2:73680334-73680334 C>-_SVSSNNVLLNSQVMTEL
7:43490468-43490468 C>T	0.0	3995	COLON	-	-	-	-	HECW1	ENST00000395891,p.L814F|NM_015052,p.L814F|uc003tid.1,p.L814F	protein_coding, processed_transcript	uc003tid.1	nonsynonymous SNV	exon12	c.C2440T	p.L814F	CPILHNSQPVSQLPSLRPEHHHYPT	CPILHNSQPVSQFPSLRPEHHHYPT	1.0	5.0	-	-	3995_7:43490468-43490468 C>T_CPILHNSQPVSQFPSLRPEHHHYPT
7:43490467-43490467 G>T	0.0	3995	COLON	-	-	-	-	HECW1	ENST00000395891,p.Q813H|NM_015052,p.Q813H|uc003tid.1,p.Q813H	protein_coding, processed_transcript	uc003tid.1	nonsynonymous SNV	exon12	c.G2439T	p.Q813H	ECPILHNSQPVSQLPSLRPEHHHYP	ECPILHNSQPVSHLPSLRPEHHHYP	1.0	4.0	unscreened	-	3995_7:43490467-43490467 G>T_ECPILHNSQPVSHLPSLRPEHHHYP
17:39280145-39280145 C>T	0.0	3995	COLON	-	-	-	-	KRTAP4-12	NM_031854,p.R77H|uc002hwa.3,p.R77H|ENST00000394014,p.R77H	protein_coding	uc002hwa.3	nonsynonymous SNV	exon1	c.G230A	p.R77H	CCQTTCCRTTCCRPSCCVSSCCRPQ	CCQTTCCRTTCCHPSCCVSSCCRPQ	1.0	6.0	-	-	3995_17:39280145-39280145 C>T_CCQTTCCRTTCCHPSCCVSSCCRPQ
3:44283675-44283675 C>T	0.0	3995	COLON	-	-	-	-	TOPAZ1	NM_001145030,p.R44W|ENST00000309765,p.R44W|uc003cna.4,p.R44W	protein_coding	uc003cna.4	nonsynonymous SNV	exon1	c.C130T	p.R44W	AAGGCGPEAGGCRENKQKRRMVARA	AAGGCGPEAGGCWENKQKRRMVARA	1.0	5.0	-	-	3995_3:44283675-44283675 C>T_AAGGCGPEAGGCWENKQKRRMVARA
15:54306056-54306056 C>A	0.0	3995	COLON	-	-	-	-	UNC13C	ENST00000545554,p.A319E|NM_001080534,p.A319E|ENST00000260323,p.A319E|uc021sms.1,p.A319E|uc021smr.1,p.A319E|ENST00000537900,p.A319E	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.C956A	p.A319E	DYIKHLGHMGSKASLRFLNVTEERF	DYIKHLGHMGSKESLRFLNVTEERF	1.0	5.0	-	-	3995_15:54306056-54306056 C>A_DYIKHLGHMGSKESLRFLNVTEERF
19:38899502-38899504 AAG>-	0.0	3995	COLON	-	-	ID=COSM1318312;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(NS),1(large_intestine)	-	FAM98C	uc002oio.1,p.262_262del|uc002oin.1,p.344_344del|NM_174905,p.344_344del|ENST00000343358,p.262_262del|ENST00000252530,p.344_344del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oio.1	nonframeshift deletion	exon6	c.784_786del	p.262_262del	RREDGGPQCWGRKKKKKK	RREDGGPQCWGRKKKKK	7.0	4.0	-	-	3995_19:38899502-38899504 AAG>-_RREDGGPQCWGRKKKKK
6:31932106-31932106 G>A	1.0	4007	COLON	-	-	-	-	SKIV2L	NM_006929,p.R653H|ENST00000544581,p.R460H|uc011dou.1,p.R495H|uc011dov.1,p.R460H|ENST00000375394,p.R653H|uc003nyn.1,p.R653H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dov.1	nonsynonymous SNV	exon13	c.G1379A	p.R460H	PILKEIVEMLFSRGLVKVLFATETF	PILKEIVEMLFSHGLVKVLFATETF	10.0	10.0	CD8	-	4007_6:31932106-31932106 G>A_PILKEIVEMLFSHGLVKVLFATETF
17:73775031-73775031 C>T	1.0	4007	COLON	-	-	-	1	H3F3B	ENST00000591890,p.A48T|ENST00000589599,p.A48T|ENST00000587560,p.A48T|ENST00000586270,p.A48T|ENST00000586607,p.A48T|uc002jpl.3,p.A48T|ENST00000254810,p.A48T|ENST00000592643,p.A48T|ENST00000587171,p.A48T|NM_005324,p.A48T	retained_intron, protein_coding, processed_transcript	uc002jpl.3	nonsynonymous SNV	exon3	c.G142A	p.A48T	VKKPHRYRPGTVALREIRRYQKSTE	VKKPHRYRPGTVTLREIRRYQKSTE	10.0	5.0	CD8	-	4007_17:73775031-73775031 C>T_VKKPHRYRPGTVTLREIRRYQKSTE
19:58384270-58384273 ATTT>-	1.0	4007	COLON	-	-	-	-	ZNF814	NM_001144989,p.K829fs|uc002qqo.2,p.K829fs|ENST00000435989,p.K829fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qqo.2	frameshift deletion	exon3	c.2485_2488del	p.K829fs	KHKRVHTGEKPYKCEKCGKLFNKKS	KHKRVHTGEKPYVRNVGNYLTRSLTSLYTRVHTGEKPY	7.0	10.0	unscreened	-	4007_19:58384270-58384273 ATTT>-_KHKRVHTGEKPYVRNVGNYLTRSLTSLYTRVHTGEKPY
20:60963413-60963413 G>A	1.0	4007	COLON	-	-	-	-	RPS21	NM_001024,p.V79I|ENST00000343986,p.V79I|uc002ycr.3,p.V79I	protein_coding, processed_transcript	uc002ycr.3	nonsynonymous SNV	exon5	c.G235A	p.V79I	DSILRLAKADGIVSKNF	DSILRLAKADGIISKNF	10.0	2.0	-	-	4007_20:60963413-60963413 G>A_DSILRLAKADGIISKNF
10:75834565-75834565 T>A	1.0	4007	COLON	-	-	-	-	VCL	uc001jwd.3,p.N229K|NM_003373,p.N229K|ENST00000372755,p.N229K|uc010qky.1,p.N136K|uc001jwe.3,p.N229K|ENST00000211998,p.N229K|NM_014000,p.N229K	protein_coding, processed_transcript	uc010qky.1	nonsynonymous SNV	exon5	c.T408A	p.N136K	NSKNQGIEEALKNRNFTVEKMSAEI	NSKNQGIEEALKKRNFTVEKMSAEI	9.0	8.0	-	-	4007_10:75834565-75834565 T>A_NSKNQGIEEALKKRNFTVEKMSAEI
5:176863464-176863464 C>G	1.0	4007	COLON	-	-	-	-	GRK6	uc021yiu.1,p.P446R|NM_002082,p.P446R|NM_001004105,p.P446R|ENST00000355958,p.P446R|uc021yit.1,p.P446R|NM_001004106,p.P446R|ENST00000393576,p.P412R|ENST00000507633,p.P446R|uc003mgq.2,p.P446R|ENST00000355472,p.P446R|uc003mgs.1,p.P416R|ENST00000528793,p.P446R	retained_intron, protein_coding, nonsense_mediated_decay	uc021yiu.1	nonsynonymous SNV	exon13	c.C1337G	p.P446R	CRGGSAREVKEHPLFKKLNFKRLGA	CRGGSAREVKEHRLFKKLNFKRLGA	7.0	7.0	-	-	4007_5:176863464-176863464 C>G_CRGGSAREVKEHRLFKKLNFKRLGA
11:104897648-104897648 C>G	1.0	4007	COLON	-	-	-	-	CASP1	NM_033295,p.G30A|ENST00000353247,p.G30A|ENST00000415981,p.G30A|ENST00000531166,p.G30A|uc021qps.2,p.G30A	retained_intron, protein_coding, nonsense_mediated_decay	uc021qps.2	nonsynonymous SNV	exon3	c.G89C	p.G30A	GEDNVSWRHPTMGSVFIGRLIEHMQ	GEDNVSWRHPTMASVFIGRLIEHMQ	9.0	4.0	-	-	4007_11:104897648-104897648 C>G_GEDNVSWRHPTMASVFIGRLIEHMQ
11:104897648-104897648 C>G	1.0	4007	COLON	-	-	-	-	CASP1	NM_033294,p.G205A|ENST00000446369,p.G205A|ENST00000594519,p.G205A|ENST00000534497,p.G205A|uc021qpr.2,p.G205A	retained_intron, protein_coding, nonsense_mediated_decay	uc021qpr.2	nonsynonymous SNV	exon6	c.G614C	p.G205A	RGDNVSWRHPTMGSVFIGRLIEHMQ	RGDNVSWRHPTMASVFIGRLIEHMQ	9.0	4.0	-	-	4007_11:104897648-104897648 C>G_RGDNVSWRHPTMASVFIGRLIEHMQ
11:104897648-104897648 C>G	1.0	4007	COLON	-	-	-	-	CASP1	ENST00000436863,p.G346A|uc001pim.5,p.G346A|ENST00000526568,p.G253A|ENST00000393136,p.G325A|NM_001257119,p.G325A|NM_033292,p.G346A|uc021qpt.1,p.G253A|uc009yxi.4,p.G325A|ENST00000525825,p.G325A|uc009yxj.4,p.G191A|NM_001223,p.G325A|ENST00000527979,p.G309A|uc001pig.4,p.G253A|ENST00000533400,p.G346A|ENST00000598974,p.G346A|ENST00000593315,p.G325A|NM_001257118,p.G346A|ENST00000532439,p.G195A|NM_033293,p.G253A|uc021qpp.2,p.G346A|uc021qpq.2,p.G325A	retained_intron, protein_coding, nonsense_mediated_decay	uc021qpt.1	nonsynonymous SNV	exon7	c.G758C	p.G253A	TPDNVSWRHPTMGSVFIGRLIEHMQ	TPDNVSWRHPTMASVFIGRLIEHMQ	9.0	4.0	-	-	4007_11:104897648-104897648 C>G_TPDNVSWRHPTMASVFIGRLIEHMQ
1:26869689-26869689 G>C	0.0	4007	COLON	-	-	-	-	RPS6KA1	ENST00000366866,p.D13H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000366866	nonsynonymous SNV	exon1	c.G37C	p.D13H	MQTPADFPRVERDLVPCPRKVQQQE	MQTPADFPRVERHLVPCPRKVQQQE	9.0	7.0	-	-	4007_1:26869689-26869689 G>C_MQTPADFPRVERHLVPCPRKVQQQE
12:49219225-49219225 C>G	1.0	4007	COLON	-	-	-	-	CACNB3	ENST00000547392,p.D167E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000547392	nonsynonymous SNV	exon7	c.C501G	p.D167E	PSLAKQKQKQVTDMMQKALFDFLKH	PSLAKQKQKQVTEMMQKALFDFLKH	9.0	7.0	-	-	4007_12:49219225-49219225 C>G_PSLAKQKQKQVTEMMQKALFDFLKH
12:113403829-113403829 C>T	1.0	4007	COLON	-	-	-	-	OAS3	NM_006187,p.A895V|uc001tug.3,p.A895V|ENST00000228928,p.A895V	retained_intron, protein_coding, processed_transcript	uc001tug.3	nonsynonymous SNV	exon12	c.C2684T	p.A895V	QSVDFDVLPAFDALGQLVSGSRPSS	QSVDFDVLPAFDVLGQLVSGSRPSS	7.0	3.0	-	-	4007_12:113403829-113403829 C>T_QSVDFDVLPAFDVLGQLVSGSRPSS
1:26869689-26869689 G>C	0.0	4007	COLON	-	-	-	-	RPS6KA1	uc010off.1,p.D13H|ENST00000530003,p.D13H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010off.1	nonsynonymous SNV	exon1	c.G37C	p.D13H	MQTPADFPRVERDLVPCPRKDEGVL	MQTPADFPRVERHLVPCPRKDEGVL	9.0	7.0	-	-	4007_1:26869689-26869689 G>C_MQTPADFPRVERHLVPCPRKDEGVL
12:49219225-49219225 C>G	1.0	4007	COLON	-	-	-	-	CACNB3	ENST00000540990,p.D181E|uc021qxm.1,p.D153E|ENST00000547230,p.D153E|ENST00000547818,p.D18E|ENST00000301050,p.D194E|NM_001206916,p.D193E|uc010sly.2,p.D181E|NM_000725,p.D194E|uc001rsk.2,p.D41E|uc001rsl.2,p.D194E|ENST00000550064,p.D18E|NM_001206915,p.D153E|uc010slz.2,p.D193E|ENST00000536187,p.D193E|NM_001206917,p.D181E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qxm.1	nonsynonymous SNV	exon7	c.C459G	p.D153E	LVGPSLKGYEVTDMMQKALFDFLKH	LVGPSLKGYEVTEMMQKALFDFLKH	9.0	7.0	-	-	4007_12:49219225-49219225 C>G_LVGPSLKGYEVTEMMQKALFDFLKH
1:197071335-197071335 C>G	0.0	4007	COLON	-	-	-	-	ASPM	ENST00000367409,p.R2349T|NM_018136,p.R2349T|uc001gtw.4,p.R197T|uc001gtu.3,p.R2349T	protein_coding	uc001gtw.4	nonsynonymous SNV	exon4	c.G590C	p.R197T	AATFIQSTFRMHRLHMRYQALKQAS	AATFIQSTFRMHTLHMRYQALKQAS	6.0	8.0	-	-	4007_1:197071335-197071335 C>G_AATFIQSTFRMHTLHMRYQALKQAS
7:107545491-107545491 C>G	0.0	4007	COLON	-	-	-	-	DLD	uc011kmg.2,p.F142L|NM_001289752,p.F142L|ENST00000437604,p.F142L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kmg.2	nonsynonymous SNV	exon6	c.C426G	p.F142L	AVKALTGGIAHLFKQNKIDEDTIVS	AVKALTGGIAHLLKQNKIDEDTIVS	9.0	1.0	-	-	4007_7:107545491-107545491 C>G_AVKALTGGIAHLLKQNKIDEDTIVS
16:67213992-67213992 C>T	1.0	4007	COLON	-	-	-	-	KIAA0895L	ENST00000569349,p.R92Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000569349	nonsynonymous SNV	exon3	c.G275A	p.R92Q	TIHSLSTRSPCPRLCWKSTARPLDS	TIHSLSTRSPCPQLCWKSTARPLDS	8.0	7.0	-	-	4007_16:67213992-67213992 C>T_TIHSLSTRSPCPQLCWKSTARPLDS
17:46691906-46691906 A>G	1.0	4007	COLON	-	-	-	-	HOXB8	NM_024016,p.I54T|ENST00000239144,p.I54T|uc002inw.3,p.I54T|ENST00000576562,p.I54T	protein_coding	uc002inw.3	nonsynonymous SNV	exon1	c.T161C	p.I54T	PSSGGSFQHPSQIQEFYHGPSSLST	PSSGGSFQHPSQTQEFYHGPSSLST	10.0	6.0	-	-	4007_17:46691906-46691906 A>G_PSSGGSFQHPSQTQEFYHGPSSLST
3:184911156-184911156 A>T	0.0	4007	COLON	-	-	-	-	EHHADH	uc011brs.2,p.L248M|ENST00000456310,p.L248M|ENST00000231887,p.L344M|uc003fpf.3,p.L344M|NM_001166415,p.L248M|NM_001966,p.L344M	protein_coding, processed_transcript	uc011brs.2	nonsynonymous SNV	exon7	c.T742A	p.L248M	QLATANKMITSVLEKEASKMQQSGH	QLATANKMITSVMEKEASKMQQSGH	6.0	4.0	-	-	4007_3:184911156-184911156 A>T_QLATANKMITSVMEKEASKMQQSGH
7:107545491-107545491 C>G	0.0	4007	COLON	-	-	-	-	DLD	NM_001289750,p.F43L|ENST00000537148,p.F43L|uc003vet.3,p.F142L|ENST00000417551,p.F142L|ENST00000205402,p.F142L|uc011kmi.2,p.F43L|NM_000108,p.F142L|ENST00000440410,p.F119L|NM_001289751,p.F119L|uc011kmh.2,p.F119L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kmi.2	nonsynonymous SNV	exon4	c.C129G	p.F43L	AVKALTGGIAHLFKQNKVVHVNGYG	AVKALTGGIAHLLKQNKVVHVNGYG	9.0	1.0	-	-	4007_7:107545491-107545491 C>G_AVKALTGGIAHLLKQNKVVHVNGYG
9:129815146-129815146 C>-	1.0	4007	COLON	-	-	-	-	RALGPS1	ENST00000319107,p.N107fs	protein_coding, processed_transcript	ENST00000319107	frameshift deletion	exon6	c.321delC	p.N107fs	TRRFNQKLLELNNLHSLMSVVSALQ	TRRFNQKLLELNNFILSCLWYQHYKVLPSSG	7.0	8.0	-	-	4007_9:129815146-129815146 C>-_TRRFNQKLLELNNFILSCLWYQHYKVLPSSG
9:129815146-129815146 C>-	1.0	4007	COLON	-	-	-	-	RALGPS1	ENST00000424082,p.N137fs|uc022bno.1,p.N137fs|ENST00000259351,p.N137fs|ENST00000373434,p.N137fs|uc004bqo.2,p.N137fs|NM_001190729,p.N137fs|uc011mac.2,p.N137fs|uc011mab.2,p.N137fs|NM_001190730,p.N137fs|uc004bqq.4,p.N137fs|ENST00000394022,p.N137fs|NM_001190728,p.N137fs|ENST00000373436,p.N137fs|NM_014636,p.N137fs	protein_coding, processed_transcript	uc022bno.1	frameshift deletion	exon7	c.411delC	p.N137fs	FVKIAKKLLELNNLHSLMSVVSALQ	FVKIAKKLLELNNFILSCLWYQHYKVLPSSG	7.0	8.0	-	-	4007_9:129815146-129815146 C>-_FVKIAKKLLELNNFILSCLWYQHYKVLPSSG
9:114676915-114676915 C>G	1.0	4007	COLON	-	-	-	-	UGCG	NM_003358,p.D43E|uc004bft.3,p.D43E|ENST00000374279,p.D43E	protein_coding, processed_transcript	uc004bft.3	nonsynonymous SNV	exon2	c.C129G	p.D43E	IYTRLHLNKKATDKQPYSKLPGVSL	IYTRLHLNKKATEKQPYSKLPGVSL	8.0	8.0	-	-	4007_9:114676915-114676915 C>G_IYTRLHLNKKATEKQPYSKLPGVSL
8:130861610-130861610 T>C	1.0	4007	COLON	-	-	-	-	FAM49B	NM_001256763,p.Y240C|ENST00000519824,p.Y240C|ENST00000519110,p.Y240C|ENST00000517654,p.Y240C|ENST00000401979,p.Y240C|uc003ysw.4,p.Y240C|uc003ysx.4,p.Y240C|NM_016623,p.Y240C|ENST00000522746,p.Y240C|ENST00000519540,p.Y240C|uc003yst.4,p.Y240C|ENST00000523509,p.Y240C|ENST00000522250,p.Y94C|uc003ysy.2,p.Y240C|uc003ysu.4,p.Y240C|ENST00000522941,p.Y94C|uc003yss.4,p.Y240C	retained_intron, protein_coding, processed_transcript	uc003ysy.2	nonsynonymous SNV	exon13	c.A719G	p.Y240C	ASVCRVMLETPEYRSRFTNEETVSF	ASVCRVMLETPECRSRFTNEETVSF	10.0	5.0	-	-	4007_8:130861610-130861610 T>C_ASVCRVMLETPECRSRFTNEETVSF
19:40542483-40542483 ->AAT	1.0	4007	COLON	-	-	-	-	ZNF780B	ENST00000434248,p.F95delinsIF|NM_001005851,p.F95delinsIF|uc002omu.3,p.F95delinsIF	retained_intron, protein_coding, non_stop_decay	uc002omu.3	nonframeshift insertion	exon5	c.282_283insATT	p.F95delinsIF	YGPEKISPENDIFEINLPKHVIKQI	YGPEKISPENDIIFEINLPKHVIKQ	5.0	9.0	unscreened	-	4007_19:40542483-40542483 ->AAT_YGPEKISPENDIIFEINLPKHVIKQ
6:137519347-137519347 G>A	0.0	4007	COLON	-	-	ID=COSM739934;OCCURENCE=1(lung)	-	IFNGR1	ENST00000367739,p.P431S|uc003qho.2,p.P431S|uc011edm.1,p.P403S|NM_000416,p.P431S|ENST00000543628,p.P403S	protein_coding, processed_transcript	uc011edm.1	nonsynonymous SNV	exon7	c.C1207T	p.P403S	LESHSSLSDSEFPPNNKGEIKTEGQ	LESHSSLSDSEFSPNNKGEIKTEGQ	10.0	1.0	unscreened	-	4007_6:137519347-137519347 G>A_LESHSSLSDSEFSPNNKGEIKTEGQ
19:40542483-40542483 ->AAT	1.0	4007	COLON	-	-	-	-	ZNF780B	ENST00000598845,p.F85delinsLF	retained_intron, protein_coding, non_stop_decay	ENST00000598845	nonframeshift insertion	exon5	c.254_255insATT	p.F85delinsLF	NMDLRKYLQKMIFLK	NMDLRKYLQKMILFLK	5.0	9.0	-	-	4007_19:40542483-40542483 ->AAT_NMDLRKYLQKMILFLK
20:47852915-47852915 C>T	1.0	4007	COLON	-	-	-	-	DDX27	uc002xuh.3,p.R550W|ENST00000371764,p.R550W|NM_017895,p.R550W	protein_coding, processed_transcript	uc002xuh.3	nonsynonymous SNV	exon14	c.C1648T	p.R550W	FTMPNTIKHYVHRVGRTARAGRAGR	FTMPNTIKHYVHWVGRTARAGRAGR	10.0	2.0	-	-	4007_20:47852915-47852915 C>T_FTMPNTIKHYVHWVGRTARAGRAGR
4:187542854-187542854 T>G	0.0	4007	COLON	-	-	-	1	FAT1	ENST00000441802,p.N1629T|uc003izf.3,p.N1629T|NM_005245,p.N1629T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003izf.3	nonsynonymous SNV	exon10	c.A4886C	p.N1629T	GSIKTAKELDRSNQAEYDLMVKATD	GSIKTAKELDRSTQAEYDLMVKATD	10.0	1.0	unscreened	-	4007_4:187542854-187542854 T>G_GSIKTAKELDRSTQAEYDLMVKATD
17:29632081-29632081 ->TGGTGTACTCCTAGG	0.0	4007	COLON	-	-	-	-	EVI2B	ENST00000544462,p.G198delinsPRSTPG|ENST00000577894,p.G183delinsPRSTPG|uc002hgk.2,p.G183delinsPRSTPG|NM_006495,p.G183delinsPRSTPG|uc021tuk.1,p.G183delinsPRSTPG|ENST00000330927,p.G183delinsPRSTPG|uc010csq.2,p.G198delinsPRSTPG	protein_coding	uc021tuk.1	nonframeshift insertion	exon1	c.546_547insCCTAGGAGTACACCA	p.G183delinsPRSTPG	TSTVKNSPRSTPGFILDTTSNKQTP	TSTVKNSPRSTPPRSTPGFILDTTS	5.0	4.0	unscreened	-	4007_17:29632081-29632081 ->TGGTGTACTCCTAGG_TSTVKNSPRSTPPRSTPGFILDTTS
3:189587123-189587123 G>C	0.0	4007	COLON	-	-	-	1	TP63	NM_003722,p.Q380H|NM_001114982,p.Q286H|NM_001114981,p.Q286H|uc003frz.2,p.Q380H|uc021xir.1,p.Q286H|ENST00000437221,p.Q286H|NM_001114979,p.Q380H|uc003frx.2,p.Q380H|ENST00000320472,p.Q380H|uc003fsc.2,p.Q286H|uc010hzd.1,p.Q201H|NM_001114978,p.Q380H|uc003fsa.2,p.Q286H|ENST00000382063,p.Q295H|ENST00000354600,p.Q286H|ENST00000392463,p.Q286H|uc003fry.2,p.Q380H|ENST00000392460,p.Q380H|ENST00000264731,p.Q380H|uc010hzc.1,p.Q380H|ENST00000392461,p.Q286H|ENST00000449992,p.Q201H|uc003fsd.2,p.Q286H|NM_001114980,p.Q286H|uc003fsb.2,p.Q286H|ENST00000418709,p.Q380H	retained_intron, protein_coding	uc021xir.1	nonsynonymous SNV	exon7	c.G858C	p.Q286H	TKNGDGTKRPFRQNTHGIQMTSIKK	TKNGDGTKRPFRHNTHGIQMTSIKK	1.0	1.0	unscreened	-	4007_3:189587123-189587123 G>C_TKNGDGTKRPFRHNTHGIQMTSIKK
7:20198996-20198996 T>G	0.0	4007	COLON	-	-	-	-	MACC1	ENST00000589011,p.K330Q|uc003sus.4,p.K330Q|NM_182762,p.K330Q|ENST00000400331,p.K330Q|ENST00000332878,p.K330Q|uc010kug.3,p.K330Q	retained_intron, protein_coding, processed_transcript	uc010kug.3	nonsynonymous SNV	exon3	c.A988C	p.K330Q	GPFKVLSNCYIYKDTIQVKLIDLSQ	GPFKVLSNCYIYQDTIQVKLIDLSQ	7.0	3.0	-	-	4007_7:20198996-20198996 T>G_GPFKVLSNCYIYQDTIQVKLIDLSQ
17:48917430-48917430 C>T	0.0	4007	COLON	-	-	-	-	WFIKKN2	ENST00000311378,p.R261C|NM_175575,p.R261C|uc002isv.4,p.R261C|uc010dbu.3,p.R168C|ENST00000426127,p.R168C	protein_coding	uc010dbu.3	nonsynonymous SNV	exon2	c.C502T	p.R168C	DRENVVMRPNHVRGNVVVTNIAQLV	DRENVVMRPNHVCGNVVVTNIAQLV	1.0	10.0	-	-	4007_17:48917430-48917430 C>T_DRENVVMRPNHVCGNVVVTNIAQLV
12:1017648-1017648 G>C	0.0	4007	COLON	-	-	-	-	WNK1	ENST00000315939,p.G2280A|NM_014823,p.G2032A|NM_001184985,p.G2540A|uc031qfk.1,p.G2731A|uc001qir.4,p.G1453A|ENST00000537687,p.G2540A|NM_018979,p.G2280A|uc021qst.1,p.G2532A|ENST00000535572,p.G2032A|ENST00000530271,p.G2778A|uc021qss.1,p.G2540A|uc001qio.4,p.G2280A|uc001qip.4,p.G2032A|NM_213655,p.G2532A|ENST00000340908,p.G1873A	retained_intron, protein_coding, processed_transcript	uc031qfk.1	nonsynonymous SNV	exon31	c.G8192C	p.G2731A	RGSKGHMNYEGPGMARKFSAPGQLC	RGSKGHMNYEGPAMARKFSAPGQLC	8.0	1.0	-	-	4007_12:1017648-1017648 G>C_RGSKGHMNYEGPAMARKFSAPGQLC
19:15224416-15224416 G>A	0.0	4007	COLON	-	-	-	-	SYDE1	ENST00000600252,p.R274Q|ENST00000600440,p.R550Q|NM_033025,p.R617Q|uc002naj.1,p.R274Q|ENST00000342784,p.R617Q|NM_001300910,p.R550Q|uc002nah.1,p.R617Q|uc002nai.1,p.R550Q	protein_coding	uc002naj.1	nonsynonymous SNV	exon5	c.G821A	p.R274Q	LPRQSPDVAPYLRPKRQPPLHLPLA	LPRQSPDVAPYLQPKRQPPLHLPLA	5.0	2.0	unscreened	-	4007_19:15224416-15224416 G>A_LPRQSPDVAPYLQPKRQPPLHLPLA
22:19870868-19870868 C>T	1.0	4007	COLON	-	-	ID=COSM2150362;OCCURENCE=2(central_nervous_system)	-	TXNRD2	ENST00000542719,p.A326T|ENST00000535882,p.A355T|uc002zqr.1,p.A355T	retained_intron, protein_coding, processed_transcript	uc002zqr.1	nonsynonymous SNV	exon12	c.G1063A	p.A355T	DSREATSVPHIYAIGDVVEGRPELT	DSREATSVPHIYTIGDVVEGRPELT	7.0	10.0	-	-	4007_22:19870868-19870868 C>T_DSREATSVPHIYTIGDVVEGRPELT
2:198571563-198571563 C>G	0.0	4007	COLON	-	-	-	-	MARS2	ENST00000282276,p.S478R|NM_138395,p.S478R|uc002uuq.3,p.S478R	protein_coding	uc002uuq.3	nonsynonymous SNV	exon1	c.C1434G	p.S478R	NFRIYKALEAVSSCVRQTNGFVQRH	NFRIYKALEAVSRCVRQTNGFVQRH	6.0	2.0	-	-	4007_2:198571563-198571563 C>G_NFRIYKALEAVSRCVRQTNGFVQRH
12:105534106-105534106 T>G	0.0	4007	COLON	-	-	-	-	KIAA1033	uc010sws.2,p.V308G|uc001tld.3,p.V496G|uc010swr.2,p.V497G|NM_001293640,p.V497G|NM_015275,p.V496G|ENST00000332180,p.V496G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sws.2	nonsynonymous SNV	exon13	c.T923G	p.V308G	KAIEHMFYRRSMVVADSVSHITQHL	KAIEHMFYRRSMGVADSVSHITQHL	8.0	2.0	-	-	4007_12:105534106-105534106 T>G_KAIEHMFYRRSMGVADSVSHITQHL
1:228400037-228400037 C>T	0.0	4007	COLON	-	-	-	-	OBSCN	ENST00000570156,p.R185C|ENST00000422127,p.R185C|NM_001098623,p.R185C|NM_001271223,p.R185C|uc001hsq.2,p.R185C|ENST00000284548,p.R185C|uc001hsn.4,p.R185C|uc009xez.2,p.R185C|NM_052843,p.R185C	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon2	c.C553T	p.R185C	AARPRDGGTYEVRAENPLGAASAAA	AARPRDGGTYEVCAENPLGAASAAA	5.0	3.0	-	-	4007_1:228400037-228400037 C>T_AARPRDGGTYEVCAENPLGAASAAA
17:65955758-65955758 ->CCTCCAGCCCCTCCAGCC	0.0	4007	COLON	-	-	-	-	BPTF	uc021uca.1,p.A476delinsAPPAPPA|uc002jgh.3,p.A135delinsAPPAPPA|uc002jgf.3,p.A2676delinsAPPAPPA|NM_182641,p.A2676delinsAPPAPPA|ENST00000321892,p.A2802delinsAPPAPPA|ENST00000335221,p.A2659delinsAPPAPPA|NM_004459,p.A2659delinsAPPAPPA|ENST00000424123,p.A2520delinsAPPAPPA|uc002jgg.3,p.A333delinsAPPAPPA|uc002jge.3,p.A2659delinsAPPAPPA|ENST00000306378,p.A2676delinsAPPAPPA	retained_intron, protein_coding, processed_transcript	uc021uca.1	nonframeshift insertion	exon5	c.1428_1429insCCTCCAGCCCCTCCAGCC	p.A476delinsAPPAPPA	TAVAAPCPPVTPAPPAPPAPPPSPP	TAVAAPCPPVTPAPPAPPAPPAPPA	8.0	1.0	unscreened	-	4007_17:65955758-65955758 ->CCTCCAGCCCCTCCAGCC_TAVAAPCPPVTPAPPAPPAPPAPPA
1:23420504-23420504 C>G	0.0	4007	COLON	-	-	-	-	LUZP1	uc001bgk.2,p.R84T|uc010odv.1,p.R84T|ENST00000314174,p.R84T|ENST00000418342,p.R84T|ENST00000374623,p.R84T|ENST00000471849,p.R84T|NM_033631,p.R84T|uc001bgl.3,p.R84T|NM_001142546,p.R84T|ENST00000302291,p.R84T|uc001bgm.1,p.R84T	protein_coding	uc010odv.1	nonsynonymous SNV	exon3	c.G251C	p.R84T	VLRIEGKDEEIKRAEDLCRLMKEKL	VLRIEGKDEEIKTAEDLCRLMKEKL	6.0	2.0	-	-	4007_1:23420504-23420504 C>G_VLRIEGKDEEIKTAEDLCRLMKEKL
2:202436688-202436688 G>T	0.0	4007	COLON	-	-	-	-	ALS2CR11	uc010fti.3,p.P270H|ENST00000439140,p.P270H|uc002uyf.3,p.P270H|uc002uye.3,p.P270H|NM_152525,p.P270H|NM_001168217,p.P270H|NM_001168221,p.P270H|NM_001168216,p.P270H|ENST00000450242,p.P270H|ENST00000439802,p.P270H|ENST00000286195,p.P270H|uc021vvc.1,p.P270H	protein_coding, processed_transcript	uc021vvc.1	nonsynonymous SNV	exon8	c.C809A	p.P270H	ITEPSMFMNLAPPPERTDPVTKVIT	ITEPSMFMNLAPHPERTDPVTKVIT	1.0	2.0	-	-	4007_2:202436688-202436688 G>T_ITEPSMFMNLAPHPERTDPVTKVIT
20:42340200-42340200 G>A	1.0	4007	COLON	-	-	-	-	MYBL2	uc010zwj.1,p.E536K|NM_001278610,p.E536K|ENST00000396863,p.E536K|uc002xlb.1,p.E560K|NM_002466,p.E560K|ENST00000217026,p.E560K	protein_coding	uc010zwj.1	nonsynonymous SNV	exon10	c.G1606A	p.E536K	VLRSEAGIELIIEDDIRPEKQKRKP	VLRSEAGIELIIKDDIRPEKQKRKP	10.0	2.0	-	-	4007_20:42340200-42340200 G>A_VLRSEAGIELIIKDDIRPEKQKRKP
12:99640283-99640283 C>T	0.0	4007	COLON	-	-	-	-	ANKS1B	uc009ztt.1,p.A672T|ENST00000547010,p.A286T|uc001tge.2,p.A706T|ENST00000329257,p.A706T|ENST00000547776,p.A706T|uc001tgf.2,p.A286T|NM_152788,p.A706T	protein_coding, processed_transcript, nonsense_mediated_decay	uc009ztt.1	nonsynonymous SNV	exon12	c.G2014A	p.A672T	SGSRNGDQWVMNAGGFVERACTLGR	SGSRNGDQWVMNTGGFVERACTLGR	8.0	5.0	-	-	4007_12:99640283-99640283 C>T_SGSRNGDQWVMNTGGFVERACTLGR
9:80854965-80854965 A>C	0.0	4007	COLON	-	-	-	-	CEP78	ENST00000415759,p.S94R|ENST00000376598,p.S94R|uc004akx.2,p.S94R|ENST00000376597,p.S94R|uc010mpp.3,p.S94R|ENST00000277082,p.S94R|NM_001098802,p.S94R|uc004aky.4,p.S94R|NM_032171,p.S94R|ENST00000424347,p.S94R	retained_intron, protein_coding, processed_transcript	uc010mpp.3	nonsynonymous SNV	exon2	c.A280C	p.S94R	GDTGSDMNKFCRSRVPAIRYKDVTF	GDTGSDMNKFCRRRVPAIRYKDVTF	7.0	2.0	-	-	4007_9:80854965-80854965 A>C_GDTGSDMNKFCRRRVPAIRYKDVTF
11:55872750-55872750 G>A	0.0	4007	COLON	-	-	-	-	OR8H2	uc010riy.2,p.V78I|NM_001005200,p.V78I|ENST00000313503,p.V78I	protein_coding	uc010riy.2	nonsynonymous SNV	exon1	c.G232A	p.V78I	HLSFIDLSYSTVVTPKTLANLLTSN	HLSFIDLSYSTVITPKTLANLLTSN	1.0	2.0	-	-	4007_11:55872750-55872750 G>A_HLSFIDLSYSTVITPKTLANLLTSN
12:977889-977889 G>T	0.0	4007	COLON	-	-	-	-	WNK1	NM_001184985,p.L999F|ENST00000537687,p.L999F|uc021qst.1,p.L1084F|NM_213655,p.L1084F|ENST00000574564,p.L298F|uc001qiq.3,p.L298F|ENST00000530271,p.L1084F|uc021qss.1,p.L999F|ENST00000574679,p.L52F|uc031qfk.1,p.L999F	retained_intron, protein_coding, processed_transcript	uc031qfk.1	nonsynonymous SNV	exon9	c.G2997T	p.L999F	QRVYRNRQVAVDLNQEELPPQSVGL	QRVYRNRQVAVDFNQEELPPQSVGL	8.0	1.0	unscreened	-	4007_12:977889-977889 G>T_QRVYRNRQVAVDFNQEELPPQSVGL
17:17109192-17109192 C>G	0.0	4007	COLON	-	-	-	-	PLD6	ENST00000321560,p.G137R|uc002gqz.3,p.G137R|NM_178836,p.G137R	protein_coding	uc002gqz.3	nonsynonymous SNV	exon1	c.G409C	p.G137R	DCDYMALNGSQIGLLRKAGIQVRHD	DCDYMALNGSQIRLLRKAGIQVRHD	5.0	3.0	-	-	4007_17:17109192-17109192 C>G_DCDYMALNGSQIRLLRKAGIQVRHD
15:65369331-65369331 G>A	0.0	4007	COLON	-	-	ID=COSM3786550;OCCURENCE=1(pancreas)	-	KBTBD13	ENST00000432196,p.A60T|uc010uis.2,p.A60T|NM_001101362,p.A60T	protein_coding	uc010uis.2	nonsynonymous SNV	exon1	c.G178A	p.A60T	VRLGVLSAGGFRATLQVLRGDRPAL	VRLGVLSAGGFRTTLQVLRGDRPAL	1.0	10.0	-	-	4007_15:65369331-65369331 G>A_VRLGVLSAGGFRTTLQVLRGDRPAL
15:90191802-90191802 G>A	0.0	4007	COLON	-	-	-	-	KIF7	ENST00000394412,p.P376L|uc002bog.2,p.P253L|NM_198525,p.P376L|uc002bof.2,p.P376L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002bog.2	nonsynonymous SNV	exon5	c.C758T	p.P253L	PPEETASGARGPPRHRSETRIIHRG	PPEETASGARGPLRHRSETRIIHRG	3.0	9.0	-	-	4007_15:90191802-90191802 G>A_PPEETASGARGPLRHRSETRIIHRG
3:141162285-141162285 A>T	0.0	4007	COLON	-	-	-	-	ZBTB38	uc010hup.3,p.D353V|uc003ety.3,p.D352V|uc003etw.3,p.D352V|ENST00000514251,p.D352V|uc010hun.3,p.D349V|ENST00000441582,p.D352V|uc010huo.3,p.D352V|ENST00000321464,p.D353V|uc021xes.1,p.D352V|ENST00000509883,p.D352V|NM_001080412,p.D352V	retained_intron, protein_coding, processed_transcript	uc021xes.1	nonsynonymous SNV	exon1	c.A1055T	p.D352V	LVYNCSCCSKAFDSSTLLSAHMQLH	LVYNCSCCSKAFVSSTLLSAHMQLH	8.0	9.0	-	-	4007_3:141162285-141162285 A>T_LVYNCSCCSKAFVSSTLLSAHMQLH
17:40705621-40705621 G>T	0.0	4007	COLON	-	-	-	-	HSD17B1	uc010cyi.3,p.V175L|uc002hzw.3,p.V144L|ENST00000585807,p.V144L|ENST00000225929,p.V144L|NM_000413,p.V144L	retained_intron, protein_coding, nonsense_mediated_decay	uc010cyi.3	nonsynonymous SNV	exon2	c.G523T	p.V175L	RRGSGRVLVTGSVGGLMGLPFNDVY	RRGSGRVLVTGSLGGLMGLPFNDVY	7.0	4.0	-	-	4007_17:40705621-40705621 G>T_RRGSGRVLVTGSLGGLMGLPFNDVY
16:2358456-2358456 G>A	0.0	4007	COLON	-	-	ID=COSM169984;OCCURENCE=2(large_intestine)	-	ABCA3	uc002cpy.1,p.A427V|uc010bsl.1,p.A427V|NM_001089,p.A427V|ENST00000301732,p.A427V	retained_intron, protein_coding	uc010bsl.1	nonsynonymous SNV	exon11	c.C1280T	p.A427V	MAMGAQLIGKFEAKGMGIQWRDLLS	MAMGAQLIGKFEVKGMGIQWRDLLS	3.0	10.0	-	-	4007_16:2358456-2358456 G>A_MAMGAQLIGKFEVKGMGIQWRDLLS
1:75716927-75716927 C>T	0.0	4007	COLON	0.0005	-	-	-	SLC44A5	ENST00000370859,p.V105M|uc001dgr.2,p.V63M|uc001dgs.2,p.V63M|uc001dgt.2,p.V105M|NM_152697,p.V105M|uc001dgu.3,p.V105M|NM_001130058,p.V105M|ENST00000370855,p.V105M|uc010oqz.1,p.V144M|uc010ora.2,p.V99M	protein_coding, processed_transcript	uc010ora.2	nonsynonymous SNV	exon5	c.G295A	p.V99M	FYFNLLRCTSPSVLLNLQCPTTQIC	FYFNLLRCTSPSMLLNLQCPTTQIC	5.0	8.0	-	-	4007_1:75716927-75716927 C>T_FYFNLLRCTSPSMLLNLQCPTTQIC
7:110763237-110763237 T>A	0.0	4007	COLON	-	-	-	-	LRRN3	uc003vfs.4,p.S137T|uc003vfu.4,p.S137T|NM_001099658,p.S137T|uc003vft.4,p.S137T|ENST00000421101,p.S137T|NM_018334,p.S137T|NM_001099660,p.S137T|uc022akc.1,p.S137T|ENST00000422987,p.S137T|ENST00000451085,p.S137T|ENST00000308478,p.S137T	protein_coding, processed_transcript	uc022akc.1	nonsynonymous SNV	exon1	c.T409A	p.S137T	ENKLTELPEKCLSELSNLQELYINH	ENKLTELPEKCLTELSNLQELYINH	1.0	3.0	-	-	4007_7:110763237-110763237 T>A_ENKLTELPEKCLTELSNLQELYINH
8:68084668-68084668 C>T	0.0	4007	COLON	-	-	-	-	CSPP1	uc010lyw.3,p.P39L|uc003xxj.3,p.P944L|NM_001291339,p.P599L|uc003xxi.3,p.P979L|ENST00000519668,p.P599L|uc003xxk.3,p.P599L|NM_024790,p.P944L|ENST00000412460,p.P599L|ENST00000262210,p.P944L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lyw.3	nonsynonymous SNV	exon2	c.C116T	p.P39L	DDEIPIRKKERNPMDIFDMARHRLQ	DDEIPIRKKERNLMDIFDMARHRLQ	6.0	4.0	-	-	4007_8:68084668-68084668 C>T_DDEIPIRKKERNLMDIFDMARHRLQ
1:186324684-186324684 C>G	0.0	4007	COLON	-	-	-	1	TPR	NM_003292,p.E677Q|ENST00000367478,p.E677Q|uc001grv.3,p.E677Q	retained_intron, protein_coding, processed_transcript	uc001grv.3	nonsynonymous SNV	exon17	c.G2029C	p.E677Q	AIEAKAALKQLQEIFENYKKEKAEN	AIEAKAALKQLQQIFENYKKEKAEN	9.0	2.0	-	-	4007_1:186324684-186324684 C>G_AIEAKAALKQLQQIFENYKKEKAEN
13:58208286-58208286 G>A	0.0	4007	COLON	-	-	-	-	PCDH17	ENST00000484979,p.A536T|uc010aec.1,p.A536T|ENST00000377918,p.A536T|NM_001040429,p.A536T|uc001vhq.1,p.A536T	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon1	c.G1606A	p.A536T	YVSVNPTNGAIYALRSFNFEQTKAF	YVSVNPTNGAIYTLRSFNFEQTKAF	1.0	9.0	-	-	4007_13:58208286-58208286 G>A_YVSVNPTNGAIYTLRSFNFEQTKAF
17:55028071-55028071 C>T	1.0	4007	COLON	-	-	-	-	COIL	ENST00000240316,p.E178K|uc002iuu.3,p.E178K|NM_004645,p.E178K	protein_coding	uc002iuu.3	nonsynonymous SNV	exon2	c.G532A	p.E178K	NKATCGTVGDDNEEAKRKSPKKKEK	NKATCGTVGDDNKEAKRKSPKKKEK	8.0	8.0	-	-	4007_17:55028071-55028071 C>T_NKATCGTVGDDNKEAKRKSPKKKEK
2:178681638-178681638 A>-	0.0	4007	COLON	-	-	-	-	PDE11A	NM_001077358,p.I194fs|ENST00000389683,p.I108fs|uc002ulr.3,p.I302fs|NM_016953,p.I552fs|uc002ult.1,p.I302fs|NM_001077197,p.I302fs|ENST00000409504,p.I194fs|ENST00000286063,p.I552fs|NM_001077196,p.I108fs|ENST00000358450,p.I302fs|uc002uls.1,p.I194fs|ENST00000449286,p.I194fs|uc002ulp.3,p.I108fs|uc002ulq.3,p.I552fs|uc002ulu.1,p.I194fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ulu.1	frameshift deletion	exon8	c.581delT	p.I194fs	DDADQRLFEAFVIFCGLGINNTIMY	DDADQRLFEAFVTFVDLASTTQLCMIK	1.0	10.0	unscreened	-	4007_2:178681638-178681638 A>-_DDADQRLFEAFVTFVDLASTTQLCMIK
9:94171770-94171770 A>C	0.0	4007	COLON	-	-	-	-	NFIL3	uc022bjt.1,p.V416G|ENST00000297689,p.V416G|uc004arh.3,p.V416G|NM_005384,p.V416G|NM_001289999,p.V416G|NM_001290000,p.V416G	protein_coding	uc022bjt.1	nonsynonymous SNV	exon1	c.T1247G	p.V416G	SGKTQNSFKTGVVEMKDSGYKVSDP	SGKTQNSFKTGVGEMKDSGYKVSDP	8.0	1.0	-	-	4007_9:94171770-94171770 A>C_SGKTQNSFKTGVGEMKDSGYKVSDP
17:40705621-40705621 G>T	0.0	4007	COLON	-	-	-	-	HSD17B1	ENST00000590299,p.V144L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000590299	nonsynonymous SNV	exon3	c.G430T	p.V144L	RRGSGRVLVTGSVGGLMA	RRGSGRVLVTGSLGGLMA	7.0	4.0	-	-	4007_17:40705621-40705621 G>T_RRGSGRVLVTGSLGGLMA
2:97877478-97877478 G>A	0.0	4007	COLON	-	-	-	-	ANKRD36	ENST00000461153,p.V1157M|uc010yva.2,p.V1157M|NM_001164315,p.V1157M|ENST00000420699,p.V1157M	retained_intron, protein_coding	uc010yva.2	nonsynonymous SNV	exon58	c.G3469A	p.V1157M	ATEKKDEQISGTVSCQKQPALKATS	ATEKKDEQISGTMSCQKQPALKATS	6.0	3.0	-	-	4007_2:97877478-97877478 G>A_ATEKKDEQISGTMSCQKQPALKATS
1:228346624-228346624 G>A	0.0	4007	COLON	-	-	-	-	GJC2	ENST00000366714,p.A389T|uc001hsk.3,p.A389T|NM_020435,p.A389T|uc021pkg.1,p.A389T	protein_coding	uc021pkg.1	nonsynonymous SNV	exon1	c.G1165A	p.A389T	LPAASRGPPRAGAPASRTGSATSAG	LPAASRGPPRAGTPASRTGSATSAG	5.0	4.0	-	-	4007_1:228346624-228346624 G>A_LPAASRGPPRAGTPASRTGSATSAG
1:152275640-152275640 C>T	0.0	4007	COLON	0.01	-	-	-	FLG	ENST00000368799,p.D3908N|NM_002016,p.D3908N|uc001ezu.1,p.D3908N	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G11722A	p.D3908N	RDGSRHPGSSHRDTASHVQSSPVQS	RDGSRHPGSSHRNTASHVQSSPVQS	1.0	10.0	-	-	4007_1:152275640-152275640 C>T_RDGSRHPGSSHRNTASHVQSSPVQS
6:24825565-24825565 C>G	0.0	4007	COLON	-	-	-	-	FAM65B	uc011djs.1,p.Q919H|NM_001286445,p.Q919H|NM_014722,p.Q940H|uc003neo.1,p.Q940H|ENST00000259698,p.Q940H|ENST00000538035,p.Q919H	retained_intron, protein_coding, processed_transcript	uc011djs.1	nonsynonymous SNV	exon19	c.G2757C	p.Q919H	MSDLAPSNLLAQQEVLRTLALLLTR	MSDLAPSNLLAQHEVLRTLALLLTR	4.0	7.0	-	-	4007_6:24825565-24825565 C>G_MSDLAPSNLLAQHEVLRTLALLLTR
12:70954702-70954702 A>T	0.0	4007	COLON	-	-	-	1	PTPRB	ENST00000451516,p.V1086E|uc001swa.4,p.V1306E|uc001swc.4,p.V1394E|ENST00000551525,p.V1393E|uc009zrr.2,p.V1273E|NM_001109754,p.V1394E|ENST00000550857,p.V1086E|ENST00000538708,p.V1086E|ENST00000261266,p.V1176E|uc010sto.2,p.V1086E|uc001swb.4,p.V1176E|NM_002837,p.V1176E|uc010stp.2,p.V1086E|NM_001206971,p.V1086E|ENST00000548122,p.V1273E|NM_001206972,p.V1086E|uc001swd.4,p.V1393E|ENST00000550358,p.V1306E|ENST00000334414,p.V1394E	retained_intron, protein_coding, processed_transcript	uc010stp.2	nonsynonymous SNV	exon14	c.T3257A	p.V1086E	ESFIFGRTVPASVSHLRGSNRNTTD	ESFIFGRTVPASESHLRGSNRNTTD	6.0	5.0	-	-	4007_12:70954702-70954702 A>T_ESFIFGRTVPASESHLRGSNRNTTD
3:178952085-178952085 A>G	1.0	4007	COLON	-	-	ID=COSM94986,COSM775;OCCURENCE=249(large_intestine),2(prostate),2(kidney),9(liver),5(pancreas),30(urinary_tract),1(small_intestine),6(skin),1005(breast),125(endometrium),3(salivary_gland),83(ovary),7(soft_tissue),2(pituitary),8(gastrointestinal_tract_(site_indeterminate)),3(haematopoietic_and_lymphoid_tissue),3(cervix),2(meninges),15(lung),8(thyroid),4(oesophagus),8(NS),30(upper_aerodigestive_tract),19(central_nervous_system),22(stomach)	1	PIK3CA	uc003fjk.3,p.H1047R|NM_006218,p.H1047R|ENST00000263967,p.H1047R	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon21	c.A3140G	p.H1047R	ALEYFMKQMNDAHHGGWTTKMDWIF	ALEYFMKQMNDARHGGWTTKMDWIF	6.0	8.0	-	-	4007_3:178952085-178952085 A>G_ALEYFMKQMNDARHGGWTTKMDWIF
19:59059703-59059703 C>T	1.0	4007	COLON	-	-	-	-	TRIM28	uc002qtg.1,p.P382S|ENST00000341753,p.P300S|uc010eut.1,p.P300S|ENST00000253024,p.P382S|NM_005762,p.P382S|ENST00000597136,p.P15S	retained_intron, protein_coding	uc010eut.1	nonsynonymous SNV	exon6	c.C898T	p.P300S	FQLHRALKMIVDPVEPHGEMKFQWD	FQLHRALKMIVDSVEPHGEMKFQWD	10.0	9.0	-	-	4007_19:59059703-59059703 C>T_FQLHRALKMIVDSVEPHGEMKFQWD
9:136234215-136234215 C>T	1.0	4007	COLON	-	-	-	-	SURF4	uc004cdj.3,p.R52H|NM_001280788,p.R37H|uc010nal.3,p.R84H|uc011mda.2,p.R43H|ENST00000371991,p.R52H|ENST00000545297,p.R52H|NM_001280792,p.R52H|ENST00000371989,p.R52H|NM_001280789,p.R52H|NM_033161,p.R52H|uc011mdd.2,p.R52H|ENST00000485435,p.R52H	protein_coding, processed_transcript	uc011mdd.2	nonsynonymous SNV	exon2	c.G155A	p.R52H	DGIRMWFQWSEQRDYIDTTWNCGYL	DGIRMWFQWSEQHDYIDTTWNCGYL	10.0	4.0	-	-	4007_9:136234215-136234215 C>T_DGIRMWFQWSEQHDYIDTTWNCGYL
3:178922324-178922324 G>A	0.0	4007	COLON	-	-	ID=COSM86044,COSM673906;OCCURENCE=1(urinary_tract),4(endometrium)	1	PIK3CA	ENST00000263967,p.E365K|uc003fjk.3,p.E365K|NM_006218,p.E365K	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon6	c.G1093A	p.E365K	KIYVRTGIYHGGEPLCDNVNTQRVP	KIYVRTGIYHGGKPLCDNVNTQRVP	6.0	3.0	-	-	4007_3:178922324-178922324 G>A_KIYVRTGIYHGGKPLCDNVNTQRVP
2:178681636-178681636 A>G	0.0	4007	COLON	-	-	-	-	PDE11A	uc002ulu.1,p.F195L|NM_001077197,p.F303L|uc002ult.1,p.F303L|ENST00000358450,p.F303L|uc002ulp.3,p.F109L|ENST00000286063,p.F553L|ENST00000449286,p.F195L|ENST00000389683,p.F109L|ENST00000409504,p.F195L|uc002uls.1,p.F195L|NM_001077196,p.F109L|uc002ulq.3,p.F553L|uc002ulr.3,p.F303L|NM_001077358,p.F195L|NM_016953,p.F553L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ulu.1	nonsynonymous SNV	exon8	c.T583C	p.F195L	DADQRLFEAFVIFCGLGINNTIMYD	DADQRLFEAFVILCGLGINNTIMYD	1.0	10.0	unscreened	-	4007_2:178681636-178681636 A>G_DADQRLFEAFVILCGLGINNTIMYD
3:189587123-189587123 G>C	0.0	4007	COLON	-	-	-	1	TP63	ENST00000456148,p.Q282H|ENST00000440651,p.Q376H|uc003fse.1,p.Q257H	retained_intron, protein_coding	uc003fse.1	nonsynonymous SNV	exon6	c.G771C	p.Q257H	VSDSTKNGDAFRQNTHGIQMTSIKK	VSDSTKNGDAFRHNTHGIQMTSIKK	1.0	1.0	unscreened	-	4007_3:189587123-189587123 G>C_VSDSTKNGDAFRHNTHGIQMTSIKK
15:40558118-40558118 G>A	0.0	4007	COLON	-	-	-	-	PAK6	ENST00000560669,p.V94I|ENST00000558106,p.V94I|NM_001128629,p.V94I|ENST00000559139,p.V94I|NM_001276717,p.V94I|NM_001128628,p.V94I|NM_001276718,p.V94I|ENST00000453867,p.V94I|ENST00000260404,p.V94I|uc010bbn.4,p.V94I|ENST00000558055,p.V94I|ENST00000559617,p.V94I|uc001zlb.3,p.V94I|uc001zky.4,p.V94I|uc010bbl.3,p.V94I|ENST00000455577,p.V94I|NM_020168,p.V94I|ENST00000542403,p.V94I|ENST00000441369,p.V94I|uc010bbm.3,p.V94I|ENST00000560346,p.V94I	retained_intron, protein_coding, processed_transcript	uc010bbn.4	nonsynonymous SNV	exon5	c.G280A	p.V94I	ISGLLNDIQKLSVISSNTLRGRSPT	ISGLLNDIQKLSIISSNTLRGRSPT	5.0	9.0	unscreened	-	4007_15:40558118-40558118 G>A_ISGLLNDIQKLSIISSNTLRGRSPT
13:103268839-103268839 G>A	0.0	4007	COLON	-	-	ID=COSM176004;OCCURENCE=1(large_intestine)	-	TPP2	ENST00000376052,p.G162S|NM_003291,p.G162S|uc001vpi.4,p.G162S|ENST00000376065,p.G162S	protein_coding, processed_transcript	uc001vpi.4	nonsynonymous SNV	exon4	c.G484A	p.G162S	CRKQEEFDVANNGSSQANKLIKEEL	CRKQEEFDVANNSSSQANKLIKEEL	9.0	1.0	unscreened	-	4007_13:103268839-103268839 G>A_CRKQEEFDVANNSSSQANKLIKEEL
19:52497406-52497406 C>T	0.0	4007	COLON	-	-	ID=COSM278371,COSM278370;OCCURENCE=2(large_intestine)	-	ZNF615	ENST00000594083,p.R319Q|ENST00000376716,p.R308Q|ENST00000598071,p.R319Q|uc010ydg.2,p.R313Q|uc010epi.2,p.R315Q|uc002pyg.2,p.R200Q|NM_001199324,p.R319Q|uc002pye.2,p.R308Q|NM_198480,p.R308Q|ENST00000391795,p.R313Q|uc002pyf.2,p.R319Q|ENST00000602063,p.R308Q|uc002pyh.2,p.R319Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ydg.2	nonsynonymous SNV	exon4	c.G938A	p.R313Q	AFIKKCRLIYHQRTHTGEKPHGCSV	AFIKKCRLIYHQQTHTGEKPHGCSV	5.0	10.0	-	-	4007_19:52497406-52497406 C>T_AFIKKCRLIYHQQTHTGEKPHGCSV
2:149260077-149260077 A>G	0.0	4007	COLON	-	-	-	-	MBD5	NM_018328,p.K1446E|uc002twm.4,p.K1446E|ENST00000407073,p.K1446E|ENST00000404807,p.K1679E|uc002twp.3,p.K496E|uc002two.3,p.K704E	retained_intron, protein_coding, processed_transcript	uc002twp.3	nonsynonymous SNV	exon3	c.A1486G	p.K496E	LEAYSRVRKRNRKSGKLNNHLEAAI	LEAYSRVRKRNRESGKLNNHLEAAI	5.0	10.0	-	-	4007_2:149260077-149260077 A>G_LEAYSRVRKRNRESGKLNNHLEAAI
19:57058965-57058965 A>C	0.0	4007	COLON	-	-	-	-	ZFP28	ENST00000301318,p.K130T|NM_020828,p.K130T|ENST00000591844,p.K130T|uc002qnj.3,p.K130T|ENST00000589836,p.K93T|uc002qni.3,p.K130T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qnj.3	nonsynonymous SNV	exon3	c.A389C	p.K130T	EWLNPIQRNLYRKVMLENYRNLASL	EWLNPIQRNLYRTVMLENYRNLASL	4.0	2.0	-	-	4007_19:57058965-57058965 A>C_EWLNPIQRNLYRTVMLENYRNLASL
1:18809054-18809054 G>A	0.0	4007	COLON	-	-	-	-	KLHDC7A	NM_152375,p.E527K|uc009vpg.3,p.E309K|uc001bax.3,p.E527K|ENST00000400664,p.E527K	protein_coding	uc009vpg.3	nonsynonymous SNV	exon1	c.G925A	p.E309K	QDVWRPLARMPPEAVSRGCAICSLF	QDVWRPLARMPPKAVSRGCAICSLF	2.0	7.0	-	-	4007_1:18809054-18809054 G>A_QDVWRPLARMPPKAVSRGCAICSLF
9:6482014-6482014 C>G	0.0	4007	COLON	-	-	-	-	UHRF2	ENST00000276893,p.T436R|ENST00000468435,p.T436R|uc003zjy.3,p.T436R|uc003zka.1,p.T213R|NM_152896,p.T436R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zka.1	nonsynonymous SNV	exon6	c.C638G	p.T213R	RDWGRGMACVGRTRECTIVPSNHYG	RDWGRGMACVGRRRECTIVPSNHYG	8.0	5.0	-	-	4007_9:6482014-6482014 C>G_RDWGRGMACVGRRRECTIVPSNHYG
5:24535240-24535240 G>T	0.0	4007	COLON	-	-	-	2	CDH10	ENST00000264463,p.N265K|NM_006727,p.N265K|ENST00000510477,p.N265K|uc003jgr.2,p.N265K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jgr.2	nonsynonymous SNV	exon5	c.C795A	p.N265K	TTVNITLTDVNDNPPRFPQNTIHLR	TTVNITLTDVNDKPPRFPQNTIHLR	1.0	5.0	-	-	4007_5:24535240-24535240 G>T_TTVNITLTDVNDKPPRFPQNTIHLR
3:129267893-129267893 C>T	0.0	4007	COLON	-	-	-	-	H1FOO	uc003emu.3,p.A143V|NM_153833,p.A143V|ENST00000324382,p.A143V	protein_coding	uc003emu.3	nonsynonymous SNV	exon3	c.C428T	p.A143V	HKKKIQPRKMAPATAPRRAGEAKGK	HKKKIQPRKMAPVTAPRRAGEAKGK	1.0	6.0	-	-	4007_3:129267893-129267893 C>T_HKKKIQPRKMAPVTAPRRAGEAKGK
2:169830283-169830283 G>T	0.0	4007	COLON	-	-	-	-	ABCB11	NM_003742,p.A459D|uc002ueo.1,p.A459D|ENST00000263817,p.A459D	retained_intron, protein_coding, nonsense_mediated_decay	uc002ueo.1	nonsynonymous SNV	exon13	c.C1376A	p.A459D	PGEMTALVGPSGAGKSTALQLIQRF	PGEMTALVGPSGDGKSTALQLIQRF	1.0	3.0	-	-	4007_2:169830283-169830283 G>T_PGEMTALVGPSGDGKSTALQLIQRF
12:48723478-48723478 C>T	0.0	4007	COLON	-	-	-	-	H1FNT	uc001rrm.3,p.A135V|ENST00000335017,p.A135V|NM_181788,p.A135V	protein_coding	uc001rrm.3	nonsynonymous SNV	exon1	c.C404T	p.A135V	WKVPKPRRKPGRARQEEGTRAPWRT	WKVPKPRRKPGRVRQEEGTRAPWRT	1.0	3.0	-	-	4007_12:48723478-48723478 C>T_WKVPKPRRKPGRVRQEEGTRAPWRT
12:83290366-83290366 G>T	0.0	4007	COLON	-	-	-	-	TMTC2	NM_152588,p.G475V|ENST00000549919,p.G469V|ENST00000321196,p.G475V|uc010suk.2,p.G230V|uc001szt.3,p.G475V|uc001szr.1,p.G475V|ENST00000548305,p.G475V|uc001szs.1,p.G475V	retained_intron, protein_coding	uc010suk.2	nonsynonymous SNV	exon2	c.G689T	p.G230V	IVFYGLKTAIRNGDWQNEEMLYRSG	IVFYGLKTAIRNVDWQNEEMLYRSG	5.0	10.0	unscreened	-	4007_12:83290366-83290366 G>T_IVFYGLKTAIRNVDWQNEEMLYRSG
12:58021934-58021934 C>T	0.0	4007	COLON	-	-	-	-	B4GALNT1	ENST00000418555,p.D317N|uc001spg.2,p.D372N|NM_001276468,p.D317N|uc010sru.3,p.D317N|ENST00000341156,p.D372N|NM_001478,p.D372N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sru.3	nonsynonymous SNV	exon8	c.G949A	p.D317N	VFTARTRLERLVDVLERTPLDLVGG	VFTARTRLERLVNVLERTPLDLVGG	2.0	4.0	-	-	4007_12:58021934-58021934 C>T_VFTARTRLERLVNVLERTPLDLVGG
5:53815535-53815535 G>A	0.0	4007	COLON	-	-	-	-	SNX18	ENST00000326277,p.A585T|NM_052870,p.A585T|uc003jpj.4,p.A585T	protein_coding	uc003jpj.4	nonsynonymous SNV	exon1	c.G1753A	p.A585T	YSTGEEASRDVDAWVFSLECKLDCS	YSTGEEASRDVDTWVFSLECKLDCS	4.0	9.0	-	-	4007_5:53815535-53815535 G>A_YSTGEEASRDVDTWVFSLECKLDCS
4:46314687-46314687 C>T	0.0	4007	COLON	-	-	-	-	GABRA2	ENST00000503806,p.R101H|uc011bzc.1,p.R46H|ENST00000515082,p.R101H|ENST00000510233,p.R101H|NM_001114175,p.R101H|ENST00000514090,p.R101H|ENST00000540012,p.R46H|ENST00000381620,p.R101H|ENST00000507069,p.R101H|ENST00000356504,p.R101H|NM_000807,p.R101H|NM_001286827,p.R46H|ENST00000506961,p.R101H|ENST00000510861,p.R101H|uc010igc.2,p.R101H|uc003gxe.3,p.R101H|uc003gxc.3,p.R101H	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bzc.1	nonsynonymous SNV	exon4	c.G137A	p.R46H	IDVFFRQKWKDERLKFKGPMNILRL	IDVFFRQKWKDEHLKFKGPMNILRL	6.0	8.0	-	-	4007_4:46314687-46314687 C>T_IDVFFRQKWKDEHLKFKGPMNILRL
7:91852193-91852193 G>A	1.0	4007	COLON	-	-	-	-	KRIT1	uc003ulu.1,p.R452C|NM_194455,p.R452C|NM_194454,p.R452C|uc003ulv.1,p.R452C|ENST00000394505,p.R452C|ENST00000340022,p.R452C|uc003uls.1,p.R452C|uc003ulr.1,p.R452C|uc003ult.1,p.R404C|uc010lev.1,p.R209C|NM_004912,p.R452C|ENST00000394507,p.R452C|ENST00000394503,p.R404C|NM_001013406,p.R404C|uc003ulq.1,p.R452C|NM_194456,p.R452C|ENST00000412043,p.R452C	retained_intron, protein_coding, processed_transcript	uc010lev.1	nonsynonymous SNV	exon7	c.C625T	p.R209C	NNTTVQQIMEGMRLSQETQQYFTIW	NNTTVQQIMEGMCLSQETQQYFTIW	8.0	9.0	-	-	4007_7:91852193-91852193 G>A_NNTTVQQIMEGMCLSQETQQYFTIW
13:100635008-100635010 CCA>-	0.0	4007	COLON	-	-	ID=COSM432052;OCCURENCE=1(breast)	-	ZIC2	uc001von.3,p.230_231del|NM_007129,p.230_231del|ENST00000376335,p.230_231del	protein_coding, processed_transcript	uc001von.3	nonframeshift deletion	exon1	c.690_692del	p.230_231del	NMNMGMNMAAAAAHHHHHHHHHPGA	NMNMGMNMAAAAAHHHHHHHHPGAF	3.0	1.0	unscreened	-	4007_13:100635008-100635010 CCA>-_NMNMGMNMAAAAAHHHHHHHHPGAF
15:99434847-99434847 A>T	0.0	4007	COLON	-	-	-	-	IGF1R	NM_001291858,p.I312F|uc010urq.2,p.I312F|ENST00000268035,p.I312F|uc010bon.3,p.I312F|ENST00000558762,p.I312F|uc002bul.3,p.I312F|NM_000875,p.I312F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010urq.2	nonsynonymous SNV	exon3	c.A934T	p.I312F	DGECMQECPSGFIRNGSQSMYCIPC	DGECMQECPSGFFRNGSQSMYCIPC	5.0	7.0	-	-	4007_15:99434847-99434847 A>T_DGECMQECPSGFFRNGSQSMYCIPC
13:31735701-31735701 C>G	1.0	4007	COLON	-	-	-	-	HSPH1	ENST00000380405,p.D7H|uc001utk.3,p.D7H|NM_006644,p.D7H|ENST00000602786,p.D7H|uc010aaw.3,p.D7H|ENST00000380406,p.D7H|ENST00000320027,p.D7H|uc001utj.3,p.D7H|NM_001286503,p.D7H	protein_coding, processed_transcript	uc010aaw.3	nonsynonymous SNV	exon1	c.G19C	p.D7H	MSVVGLDVGSQSCYIAVAR	MSVVGLHVGSQSCYIAVAR	10.0	2.0	-	-	4007_13:31735701-31735701 C>G_MSVVGLHVGSQSCYIAVAR
3:112991355-112991355 G>A	0.0	4007	COLON	-	-	-	-	BOC	ENST00000355385,p.G256R|uc003dzz.3,p.G256R|ENST00000495514,p.G256R|NM_001301861,p.G256R|uc003dzy.3,p.G256R|ENST00000273395,p.G256R|uc003dzx.3,p.G256R|NM_033254,p.G256R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dzz.3	nonsynonymous SNV	exon7	c.G766A	p.G256R	KGQSLILECVASGIPPPRVTWAKDG	KGQSLILECVASRIPPPRVTWAKDG	3.0	6.0	-	-	4007_3:112991355-112991355 G>A_KGQSLILECVASRIPPPRVTWAKDG
21:45649955-45649955 G>A	0.0	4007	COLON	-	-	-	-	ICOSLG	NM_001283050,p.P294S|ENST00000344330,p.P294S	protein_coding	NM_001283050	nonsynonymous SNV	exon6	c.C880T	p.P294S	LQHSYAGAWAVSPETELTESWNLLL	LQHSYAGAWAVSSETELTESWNLLL	6.0	6.0	-	-	4007_21:45649955-45649955 G>A_LQHSYAGAWAVSSETELTESWNLLL
11:107375916-107375916 T>C	0.0	4007	COLON	-	-	ID=COSM4135666,COSM4135665;OCCURENCE=1(pancreas)	-	ALKBH8	ENST00000428149,p.E488G|uc010rvr.2,p.E488G|uc010rvq.2,p.E351G|uc009yxp.3,p.E488G|NM_001301010,p.E491G|NM_138775,p.E488G|uc001pjk.3,p.E236G|ENST00000417449,p.E491G|ENST00000389568,p.E488G	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rvr.2	nonsynonymous SNV	exon12	c.A1463G	p.E488G	FATAERRVAALQEIVRLLRPGGKAL	FATAERRVAALQGIVRLLRPGGKAL	4.0	8.0	-	-	4007_11:107375916-107375916 T>C_FATAERRVAALQGIVRLLRPGGKAL
X:37948752-37948752 C>T	0.0	4007	COLON	-	-	-	-	SYTL5	uc004ddx.3,p.P248L|NM_001163334,p.P248L|uc004ddv.3,p.P248L|ENST00000357972,p.P248L|ENST00000456733,p.P248L|NM_001163335,p.P248L|ENST00000297875,p.P248L|uc004ddu.3,p.P248L|NM_138780,p.P248L	protein_coding	uc004ddx.3	nonsynonymous SNV	exon6	c.C743T	p.P248L	SDLNDQEPGPRTPKSSRSNGVTPGT	SDLNDQEPGPRTLKSSRSNGVTPGT	1.0	10.0	-	-	4007_X:37948752-37948752 C>T_SDLNDQEPGPRTLKSSRSNGVTPGT
19:463990-463990 C>T	0.0	4007	COLON	-	-	-	-	ODF3L2	uc002lor.3,p.A242T|NM_182577,p.A242T|uc010drp.3,p.A206T|ENST00000382696,p.A206T|ENST00000315489,p.A242T	retained_intron, protein_coding	uc010drp.3	nonsynonymous SNV	exon3	c.G616A	p.A206T	APRPLEETPGPGAHCPEQVTVNKAR	APRPLEETPGPGTHCPEQVTVNKAR	3.0	7.0	-	-	4007_19:463990-463990 C>T_APRPLEETPGPGTHCPEQVTVNKAR
X:107978080-107978080 G>A	0.0	4007	COLON	-	-	-	1	IRS4	ENST00000372129,p.R499W|NM_003604,p.R499W|uc004eoc.2,p.R499W	protein_coding	uc004eoc.2	nonsynonymous SNV	exon1	c.C1495T	p.R499W	YMPMNNWGSGNGRGSGGGQGSNGQG	YMPMNNWGSGNGWGSGGGQGSNGQG	1.0	10.0	unscreened	-	4007_X:107978080-107978080 G>A_YMPMNNWGSGNGWGSGGGQGSNGQG
13:84453706-84453706 C>T	0.0	4007	COLON	-	-	-	-	SLITRK1	ENST00000377084,p.R646Q|uc001vlk.3,p.R646Q|NM_052910,p.R646Q|NM_001281503,p.R646Q	protein_coding	uc001vlk.3	nonsynonymous SNV	exon1	c.G1937A	p.R646Q	TVVGMLVFILRNRKRSKRRDANSSA	TVVGMLVFILRNQKRSKRRDANSSA	1.0	4.0	-	-	4007_13:84453706-84453706 C>T_TVVGMLVFILRNQKRSKRRDANSSA
5:38484889-38484889 C>T	0.0	4007	COLON	-	-	-	1	LIFR	ENST00000263409,p.R860Q|NM_001127671,p.R860Q|uc010ive.1,p.R860Q|uc003jli.2,p.R860Q|NM_002310,p.R860Q|ENST00000453190,p.R860Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ive.1	nonsynonymous SNV	exon18	c.G2579A	p.R860Q	VIVGVVTSILCYRKREWIKETFYPD	VIVGVVTSILCYQKREWIKETFYPD	3.0	6.0	-	-	4007_5:38484889-38484889 C>T_VIVGVVTSILCYQKREWIKETFYPD
X:21450804-21450804 T>-	0.0	4007	COLON	-	-	-	-	CNKSR2	ENST00000425654,p.N101fs|uc011mjo.2,p.N101fs|uc011mjn.2,p.N101fs|ENST00000379510,p.N101fs|uc004czw.3,p.N101fs|NM_001168649,p.N101fs|NM_001168647,p.N101fs|uc004czx.2,p.N101fs|ENST00000543067,p.N101fs|ENST00000279451,p.N101fs|NM_014927,p.N101fs|NM_001168648,p.N101fs	protein_coding, processed_transcript	uc011mjo.2	frameshift deletion	exon3	c.303delT	p.N101fs	SHKLNASAKNLQNFITGRRRSGHYD	SHKLNASAKNLQNL	1.0	10.0	-	-	4007_X:21450804-21450804 T>-_SHKLNASAKNLQNL
19:9801805-9801805 C>A	0.0	4007	COLON	-	-	-	-	ZNF812	NM_001199814,p.S125I|uc021uop.1,p.S125I|ENST00000457674,p.S125I|uc010xkx.2,p.S21I	protein_coding, processed_transcript	uc021uop.1	nonsynonymous SNV	exon6	c.G374T	p.S125I	IFEGNCYGKDILSVHKEASIGQELS	IFEGNCYGKDILIVHKEASIGQELS	1.0	9.0	-	-	4007_19:9801805-9801805 C>A_IFEGNCYGKDILIVHKEASIGQELS
1:182922055-182922055 G>T	0.0	4007	COLON	-	-	-	-	SHCBP1L	ENST00000367547,p.R72S|NM_030933,p.R72S|uc001gpu.3,p.R72S	protein_coding, processed_transcript	uc001gpu.3	nonsynonymous SNV	exon1	c.C214A	p.R72S	KAGRETARLRLQRLPAAQAEDTGEA	KAGRETARLRLQSLPAAQAEDTGEA	1.0	5.0	-	-	4007_1:182922055-182922055 G>T_KAGRETARLRLQSLPAAQAEDTGEA
13:32811590-32811590 A>C	0.0	4007	COLON	-	-	-	-	FRY	uc010tdw.3,p.N688T|NM_023037,p.N1962T|ENST00000380250,p.N1962T|uc001utx.3,p.N1962T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdw.3	nonsynonymous SNV	exon44	c.A2063C	p.N688T	TASRKSTGQLNMNPGTTSGNTATAE	TASRKSTGQLNMTPGTTSGNTATAE	4.0	1.0	unscreened	-	4007_13:32811590-32811590 A>C_TASRKSTGQLNMTPGTTSGNTATAE
21:45649955-45649955 G>A	0.0	4007	COLON	-	-	-	-	ICOSLG	NM_001283051,p.P177S|NM_001283052,p.P209S|uc011afc.2,p.P204S|ENST00000407780,p.P294S|ENST00000400377,p.P177S|uc002zef.3,p.P177S|NM_015259,p.P294S|uc002zee.3,p.P294S	protein_coding	uc011afc.2	nonsynonymous SNV	exon6	c.C610T	p.P204S	LQHSYAGAWAVSPETELTGHV	LQHSYAGAWAVSSETELTGHV	6.0	6.0	-	-	4007_21:45649955-45649955 G>A_LQHSYAGAWAVSSETELTGHV
X:118370349-118370349 C>A	1.0	4007	COLON	-	-	-	-	PGRMC1	uc004erb.3,p.A8E|ENST00000535419,p.A8E|uc011mts.2,p.A8E|NM_006667,p.A8E|NM_001282621,p.A8E|ENST00000217971,p.A8E	protein_coding	uc011mts.2	nonsynonymous SNV	exon1	c.C23A	p.A8E	MAAEDVVATGADPSDLESGG	MAAEDVVETGADPSDLESGG	10.0	9.0	unscreened	-	4007_X:118370349-118370349 C>A_MAAEDVVETGADPSDLESGG
2:186668852-186668852 C>A	0.0	4007	COLON	-	-	-	-	FSIP2	NM_173651,p.S5029Y|ENST00000424728,p.S4940Y|uc002upl.3,p.S5029Y|ENST00000343098,p.S5029Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.C15086A	p.S5029Y	KLKAIDPKQRELSFIVNSSVFLEEV	KLKAIDPKQRELYFIVNSSVFLEEV	3.0	5.0	-	-	4007_2:186668852-186668852 C>A_KLKAIDPKQRELYFIVNSSVFLEEV
3:151046075-151046075 C>G	0.0	4007	COLON	-	-	-	-	P2RY13	ENST00000325602,p.V257L|NM_176894,p.V257L|uc003eyv.2,p.V257L	protein_coding	uc003eyv.2	nonsynonymous SNV	exon2	c.G769C	p.V257L	KDRKNNKKLEGKVFVVVAVFFVCFA	KDRKNNKKLEGKLFVVVAVFFVCFA	3.0	1.0	unscreened	-	4007_3:151046075-151046075 C>G_KDRKNNKKLEGKLFVVVAVFFVCFA
16:77850895-77850895 T>A	0.0	4007	COLON	-	-	-	-	VAT1L	uc002ffg.1,p.F104Y|NM_020927,p.F104Y|ENST00000302536,p.F104Y	protein_coding, processed_transcript	uc002ffg.1	nonsynonymous SNV	exon2	c.T311A	p.F104Y	IDNPPKTPLVPGFECSGIVEALGDS	IDNPPKTPLVPGYECSGIVEALGDS	1.0	2.0	-	-	4007_16:77850895-77850895 T>A_IDNPPKTPLVPGYECSGIVEALGDS
X:118370348-118370348 G>T	1.0	4007	COLON	-	-	-	-	PGRMC1	uc004erb.3,p.A8S|ENST00000217971,p.A8S|NM_001282621,p.A8S|ENST00000535419,p.A8S|uc011mts.2,p.A8S|NM_006667,p.A8S	protein_coding	uc011mts.2	nonsynonymous SNV	exon1	c.G22T	p.A8S	MAAEDVVATGADPSDLESGG	MAAEDVVSTGADPSDLESGG	10.0	9.0	-	-	4007_X:118370348-118370348 G>T_MAAEDVVSTGADPSDLESGG
5:118482971-118482971 A>G	0.0	4007	COLON	-	-	-	-	DMXL1	uc021ycw.1,p.E733G|NM_001290322,p.E733G|ENST00000539542,p.E906G|NM_005509,p.E906G|NM_001290321,p.E906G|uc003ksd.2,p.E906G|uc010jcl.1,p.E906G|ENST00000311085,p.E906G	retained_intron, protein_coding, processed_transcript	uc021ycw.1	nonsynonymous SNV	exon17	c.A2198G	p.E733G	VSLDEKVDTKLSEAVWQPEEHYSSS	VSLDEKVDTKLSGAVWQPEEHYSSS	6.0	7.0	-	-	4007_5:118482971-118482971 A>G_VSLDEKVDTKLSGAVWQPEEHYSSS
16:55725948-55725948 G>A	0.0	4007	COLON	-	-	ID=COSM1162534,COSM1162533;OCCURENCE=1(lung),1(large_intestine),1(pancreas)	-	SLC6A2	NM_001172502,p.R196H|ENST00000568943,p.R301H|ENST00000561820,p.R301H|ENST00000414754,p.R301H|uc002eif.3,p.R301H|uc021tio.1,p.R301H|NM_001043,p.R301H|NM_001172501,p.R301H|NM_001172504,p.R301H|ENST00000379906,p.R301H|uc002eii.3,p.R196H|ENST00000567238,p.R196H|ENST00000219833,p.R301H|uc002eig.3,p.R301H	protein_coding	uc021tio.1	nonsynonymous SNV	exon5	c.G902A	p.R301H	NGINAYLHIDFYRLKEATVWIDAAT	NGINAYLHIDFYHLKEATVWIDAAT	1.0	4.0	-	-	4007_16:55725948-55725948 G>A_NGINAYLHIDFYHLKEATVWIDAAT
4:41689916-41689916 C>A	0.0	4007	COLON	-	-	-	-	LIMCH1	uc003gvu.4,p.P999H|uc011byu.2,p.P832H|ENST00000313860,p.P999H|uc011byv.2,p.P749H|uc003gvz.4,p.P1383H|NM_014988,p.P999H|ENST00000503057,p.P1383H|ENST00000509277,p.P832H	protein_coding, processed_transcript	uc011byv.2	nonsynonymous SNV	exon18	c.C2246A	p.P749H	QAGPFSPCSPTPPGQSPNRSISGKK	QAGPFSPCSPTPHGQSPNRSISGKK	4.0	8.0	-	-	4007_4:41689916-41689916 C>A_QAGPFSPCSPTPHGQSPNRSISGKK
21:45649955-45649955 G>A	0.0	4007	COLON	-	-	-	-	ICOSLG	uc010gpp.1,p.P294S|ENST00000400379,p.P294S	protein_coding	uc010gpp.1	nonsynonymous SNV	exon6	c.C880T	p.P294S	LQHSYAGAWAVSPETELTGEFAVGS	LQHSYAGAWAVSSETELTGEFAVGS	6.0	6.0	-	-	4007_21:45649955-45649955 G>A_LQHSYAGAWAVSSETELTGEFAVGS
1:157514665-157514665 C>G	0.0	4007	COLON	-	-	-	-	FCRL5	NM_001195388,p.S172T|ENST00000368189,p.S172T|ENST00000356953,p.S172T|ENST00000361835,p.S172T|ENST00000368190,p.S172T|ENST00000368191,p.S87T|uc010phv.1,p.S172T|NM_031281,p.S172T|uc001fqv.1,p.S172T|uc010phw.1,p.S87T|uc001fqu.3,p.S172T|uc009wsm.3,p.S172T	protein_coding, processed_transcript	uc010phw.1	nonsynonymous SNV	exon3	c.G260C	p.S87T	DNGAYRCTGYKESCCPVSSNTVKIQ	DNGAYRCTGYKETCCPVSSNTVKIQ	1.0	1.0	unscreened	-	4007_1:157514665-157514665 C>G_DNGAYRCTGYKETCCPVSSNTVKIQ
8:110376809-110376809 T>C	0.0	4007	COLON	-	-	-	-	PKHD1L1	uc003yne.3,p.I36T|ENST00000378402,p.I36T|NM_177531,p.I36T	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon2	c.T107C	p.I36T	TDGSQIIPKVTEIIPKYGSINGATR	TDGSQIIPKVTETIPKYGSINGATR	1.0	7.0	-	-	4007_8:110376809-110376809 T>C_TDGSQIIPKVTETIPKYGSINGATR
17:38859894-38859894 C>A	0.0	4007	COLON	-	-	-	-	KRT24	ENST00000264651,p.A18S|NM_019016,p.A18S|uc002hvd.3,p.A18S	protein_coding	uc002hvd.3	nonsynonymous SNV	exon1	c.G52T	p.A18S	RASSSRAGGSSSARVSAGGSSFSSG	RASSSRAGGSSSSRVSAGGSSFSSG	1.0	9.0	unscreened	-	4007_17:38859894-38859894 C>A_RASSSRAGGSSSSRVSAGGSSFSSG
16:31504883-31504883 ->GAGGTTG	1.0	4007	COLON	-	-	-	-	C16orf58	ENST00000430477,p.S191fs|uc010vfq.2,p.S191fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010vfq.2	frameshift insertion	exon7	c.572_573insCAACCTC	p.S191fs	DPAPGLGSCVSTSPTA	DPAPGLGSCVSTSNLSHCL	9.0	3.0	-	-	4007_16:31504883-31504883 ->GAGGTTG_DPAPGLGSCVSTSNLSHCL
15:48905207-48905207 G>A	0.0	4007	COLON	-	-	-	-	FBN1	ENST00000537463,p.P83S|ENST00000316623,p.P83S|NM_000138,p.P83S|uc001zwx.2,p.P83S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zwx.2	nonsynonymous SNV	exon3	c.C247T	p.P83S	WKTLPGGNQCIVPICRHSCGDGFCS	WKTLPGGNQCIVSICRHSCGDGFCS	5.0	6.0	-	-	4007_15:48905207-48905207 G>A_WKTLPGGNQCIVSICRHSCGDGFCS
4:1643261-1643261 G>A	0.0	4007	COLON	-	-	-	-	FAM53A	ENST00000308132,p.T319M|ENST00000461064,p.T319M|uc021xkk.1,p.T319M|NM_001013622,p.T319M|uc021xkl.1,p.T319M|NM_001174070,p.T319M|ENST00000472884,p.T319M	retained_intron, protein_coding	uc021xkl.1	nonsynonymous SNV	exon5	c.C956T	p.T319M	YEDDDEDDTPVKTVLSSPCDSRGLP	YEDDDEDDTPVKMVLSSPCDSRGLP	4.0	9.0	-	-	4007_4:1643261-1643261 G>A_YEDDDEDDTPVKMVLSSPCDSRGLP
1:113119646-113119646 T>G	1.0	4007	COLON	-	-	-	-	ST7L	uc001eci.3,p.I403L|ENST00000358039,p.I403L|ENST00000360743,p.I403L|ENST00000369666,p.I386L|uc001ecc.3,p.I220L|ENST00000544629,p.I338L|uc001ecf.3,p.I386L|ENST00000369668,p.I403L|uc010owh.2,p.I197L|ENST00000369669,p.I220L|ENST00000490715,p.I403L|uc001ecd.3,p.I403L|ENST00000361846,p.I403L|ENST00000343210,p.I403L|NM_138729,p.I403L|NM_017744,p.I403L|NM_138727,p.I386L|uc010owg.2,p.I338L|NM_138728,p.I403L|uc010owi.2,p.I338L|uc010owj.1,p.I386L|ENST00000490067,p.I386L|uc001ech.3,p.I386L|uc001ece.3,p.I403L|ENST00000543570,p.I386L|ENST00000538187,p.I347L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010owj.1	nonsynonymous SNV	exon11	c.A1156C	p.I386L	GLSTAEINAVEAIHRAVEFNPHVPK	GLSTAEINAVEALHRAVEFNPHVPK	7.0	5.0	-	-	4007_1:113119646-113119646 T>G_GLSTAEINAVEALHRAVEFNPHVPK
5:41000446-41000446 C>T	0.0	4007	COLON	-	-	ID=COSM281651;OCCURENCE=1(large_intestine)	-	MROH2B	uc003jmj.4,p.R1453H|NM_173489,p.R1453H|ENST00000399564,p.R1453H|ENST00000506092,p.R1008H|uc003jmi.4,p.R1008H	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon39	c.G4358A	p.R1453H	LWDPNPKIGVACRDVLMVCIPFLGL	LWDPNPKIGVACHDVLMVCIPFLGL	1.0	8.0	-	-	4007_5:41000446-41000446 C>T_LWDPNPKIGVACHDVLMVCIPFLGL
3:142840967-142840967 C>T	0.0	4007	COLON	-	-	-	-	CHST2	uc021xex.1,p.R437W|uc003evm.3,p.R437W|NM_004267,p.R437W|ENST00000309575,p.R437W	protein_coding	uc021xex.1	nonsynonymous SNV	exon1	c.C1309T	p.R437W	YEDLVGDPVKTLRRVYDFVGLLVSP	YEDLVGDPVKTLWRVYDFVGLLVSP	3.0	5.0	-	-	4007_3:142840967-142840967 C>T_YEDLVGDPVKTLWRVYDFVGLLVSP
1:29069908-29069908 G>T	1.0	4007	COLON	-	-	-	-	YTHDF2	NM_001172828,p.A326S|uc001bre.3,p.A326S|NM_016258,p.A376S|ENST00000542507,p.A376S|uc021okf.1,p.A376S|ENST00000541996,p.A326S|uc010ofx.2,p.A326S|ENST00000373812,p.A376S|NM_001173128,p.A376S|uc001brc.3,p.A376S	protein_coding, processed_transcript	uc021okf.1	nonsynonymous SNV	exon5	c.G1126T	p.A376S	NGVDGNGVGQSQAGSGSTPSEPHPV	NGVDGNGVGQSQSGSGSTPSEPHPV	10.0	9.0	-	-	4007_1:29069908-29069908 G>T_NGVDGNGVGQSQSGSGSTPSEPHPV
7:151814306-151814306 T>C	0.0	4007	COLON	-	-	-	-	GALNT11	uc010lqg.1,p.V433A|uc003wku.2,p.V433A|ENST00000320311,p.V433A|uc011kvm.1,p.V352A|uc003wkw.1,p.V181A|ENST00000434507,p.V433A|ENST00000430044,p.V433A|ENST00000452146,p.V352A|NM_022087,p.V433A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kvm.1	nonsynonymous SNV	exon8	c.T1055C	p.V352A	LKTKSYGNISERVELRKKLGCKSFK	LKTKSYGNISERAELRKKLGCKSFK	7.0	3.0	-	-	4007_7:151814306-151814306 T>C_LKTKSYGNISERAELRKKLGCKSFK
11:92531404-92531404 A>T	0.0	4007	COLON	-	-	-	2	FAT3	uc001pdj.4,p.Q1742L|NM_001008781,p.Q1742L|ENST00000409404,p.Q1742L|ENST00000525166,p.Q1592L|ENST00000298047,p.Q1742L	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon9	c.A5225T	p.Q1742L	DYERTSSYQLIIQATNMAGMASNAT	DYERTSSYQLIILATNMAGMASNAT	1.0	8.0	-	-	4007_11:92531404-92531404 A>T_DYERTSSYQLIILATNMAGMASNAT
12:117768772-117768772 G>A	0.0	4007	COLON	-	-	-	-	NOS1	ENST00000344089,p.R35W|uc001twn.2,p.R35W|NM_000620,p.R35W|ENST00000317775,p.R35W|NM_001204218,p.R35W|ENST00000338101,p.R35W|uc001twm.2,p.R35W	protein_coding, processed_transcript	uc001twn.2	nonsynonymous SNV	exon2	c.C103T	p.R35W	RKVGGLGFLVKERVSKPPVIISDLI	RKVGGLGFLVKEWVSKPPVIISDLI	1.0	5.0	-	-	4007_12:117768772-117768772 G>A_RKVGGLGFLVKEWVSKPPVIISDLI
22:44328784-44328784 C>A	0.0	4007	COLON	-	-	-	-	PNPLA3	ENST00000423180,p.D167E|ENST00000216180,p.D171E|NM_025225,p.D171E|uc003bei.1,p.D171E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003bei.1	nonsynonymous SNV	exon4	c.C513A	p.D171E	FRGVRYVDGGVSDNVPFIDAKTTIT	FRGVRYVDGGVSENVPFIDAKTTIT	1.0	8.0	-	-	4007_22:44328784-44328784 C>A_FRGVRYVDGGVSENVPFIDAKTTIT
6:32011831-32011831 G>C	0.0	4007	COLON	-	-	-	-	TNXB	uc003nzl.2,p.P3778R|uc003nzh.1,p.P247R|uc003nzg.1,p.P209R|ENST00000375247,p.P3778R|ENST00000375244,p.P3780R|ENST00000451343,p.P209R|NM_019105,p.P3778R|NM_032470,p.P209R	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon34	c.C11333G	p.P3778R	RETSAKVNWMPPPSRADSFKVSYQL	RETSAKVNWMPPRSRADSFKVSYQL	4.0	5.0	-	-	4007_6:32011831-32011831 G>C_RETSAKVNWMPPRSRADSFKVSYQL
7:140301362-140301362 C>T	0.0	4007	COLON	-	-	-	-	DENND2A	ENST00000275884,p.G279E|uc010lnj.3,p.G279E|uc003vvw.3,p.G279E|ENST00000537639,p.G279E|uc010lnk.3,p.G279E|ENST00000496613,p.G279E|uc003vvx.3,p.G279E|ENST00000492720,p.G279E|NM_015689,p.G279E|ENST00000461883,p.G279E	protein_coding, nonsense_mediated_decay	uc010lnk.3	nonsynonymous SNV	exon3	c.G836A	p.G279E	PKPRRTFKHAGEGDKDGKPGIGFRK	PKPRRTFKHAGEEDKDGKPGIGFRK	4.0	4.0	-	-	4007_7:140301362-140301362 C>T_PKPRRTFKHAGEEDKDGKPGIGFRK
2:168100328-168100328 A>T	0.0	4007	COLON	-	-	-	-	XIRP2	uc010fpq.3,p.K587M|uc002udy.3,p.K634M|ENST00000295237,p.K809M|ENST00000409195,p.K809M|NM_152381,p.K809M|uc002udx.3,p.K809M|NM_001199144,p.K587M|ENST00000409273,p.K587M	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.A1760T	p.K587M	MEENVKGGVSKAKWLFETQPLEKIK	MEENVKGGVSKAMWLFETQPLEKIK	1.0	6.0	-	-	4007_2:168100328-168100328 A>T_MEENVKGGVSKAMWLFETQPLEKIK
1:182025745-182025745 C>G	0.0	4007	COLON	-	-	-	-	ZNF648	ENST00000339948,p.Q467H|uc021pfu.1,p.Q467H|NM_001009992,p.Q467H|uc001goz.3,p.Q467H	protein_coding	uc021pfu.1	nonsynonymous SNV	exon1	c.G1401C	p.Q467H	VAFAQPSRLVRHQRIHTGERPFPCT	VAFAQPSRLVRHHRIHTGERPFPCT	1.0	3.0	-	-	4007_1:182025745-182025745 C>G_VAFAQPSRLVRHHRIHTGERPFPCT
13:88330038-88330038 C>A	0.0	4007	COLON	-	-	-	-	SLITRK5	uc021rlc.1,p.P799T|ENST00000400028,p.P558T|ENST00000325089,p.P799T|NM_015567,p.P799T|uc010tic.1,p.P558T|uc001vln.3,p.P799T	protein_coding	uc021rlc.1	nonsynonymous SNV	exon1	c.C2395A	p.P799T	SSNHHLQQQQQPPPPPQQPQQQPPP	SSNHHLQQQQQPTPPPQQPQQQPPP	1.0	2.0	-	-	4007_13:88330038-88330038 C>A_SSNHHLQQQQQPTPPPQQPQQQPPP
1:175087726-175087726 G>C	0.0	4007	COLON	-	-	-	-	TNN	NM_022093,p.D806H|uc001gkl.1,p.D806H|ENST00000239462,p.D806H	protein_coding	uc001gkl.1	nonsynonymous SNV	exon11	c.G2416C	p.D806H	QTDIDSPQNLVTDWVTENTATVSWD	QTDIDSPQNLVTHWVTENTATVSWD	1.0	5.0	-	-	4007_1:175087726-175087726 G>C_QTDIDSPQNLVTHWVTENTATVSWD
2:203054919-203054919 ->A	0.0	4007	COLON	-	-	-	-	KIAA2012	uc031rqt.1,p.A873fs|ENST00000498697,p.A421fs|uc002uyy.2,p.A246fs|NM_001277372,p.A873fs	retained_intron, protein_coding, processed_transcript	uc031rqt.1	frameshift insertion	exon19	c.2620dupA	p.A873fs	AEAAIGKSKDSKAKKKLEKKTRPQR	AEAAIGKSKDSKAKKKIRKKNKTPKEKDTEGKKSGDSGRAERA	1.0	6.0	-	-	4007_2:203054919-203054919 ->A_AEAAIGKSKDSKAKKKIRKKNKTPKEKDTEGKKSGDSGRAERA
7:18631243-18631243 C>T	0.0	4007	COLON	-	-	-	-	HDAC9	uc003sui.3,p.R174C|NM_001204148,p.R143C|NM_001204146,p.R174C|ENST00000406072,p.R202C|ENST00000401921,p.R174C|ENST00000417496,p.R213C|ENST00000456174,p.R143C|ENST00000428307,p.R171C|ENST00000405010,p.R171C|NM_014707,p.R171C|uc003suj.3,p.R174C|NM_001204145,p.R171C|NM_001204144,p.R213C|uc010kud.2,p.R174C|ENST00000406451,p.R171C|uc011jyc.2,p.R174C|NM_058176,p.R171C|uc003sud.2,p.R171C|ENST00000441542,p.R174C|uc011jyb.2,p.R171C|uc003sue.3,p.R171C|uc003sua.1,p.R193C|NM_178423,p.R171C|NM_178425,p.R174C|uc003suh.3,p.R171C|uc011jye.2,p.R143C|uc003suf.2,p.R202C|ENST00000432645,p.R171C|uc011jyd.2,p.R171C|uc011jya.2,p.R213C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jye.2	nonsynonymous SNV	exon4	c.C427T	p.R143C	DTPTNGKNHSVSRHPKLWYTAAHHT	DTPTNGKNHSVSCHPKLWYTAAHHT	3.0	7.0	-	-	4007_7:18631243-18631243 C>T_DTPTNGKNHSVSCHPKLWYTAAHHT
7:18631243-18631243 C>T	0.0	4007	COLON	-	-	-	-	HDAC9	uc011jyf.2,p.R140C|ENST00000524023,p.R140C|NM_001204147,p.R140C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyf.2	nonsynonymous SNV	exon4	c.C418T	p.R140C	DTPTNGKNHSVSRHPKLWAAHHTSL	DTPTNGKNHSVSCHPKLWAAHHTSL	3.0	7.0	-	-	4007_7:18631243-18631243 C>T_DTPTNGKNHSVSCHPKLWAAHHTSL
17:61611659-61611659 C>A	0.0	4007	COLON	-	-	-	-	KCNH6	uc010wpl.2,p.T240N|NM_001278919,p.T363N|NM_030779,p.T363N|NM_173092,p.T363N|ENST00000580652,p.T363N|uc010wpm.2,p.T363N|NM_001278920,p.T240N|uc002jax.1,p.T363N|ENST00000314672,p.T363N|ENST00000581784,p.T363N|uc002jay.3,p.T363N|uc002jaz.1,p.T363N|ENST00000583023,p.T363N|ENST00000456941,p.T363N	protein_coding, nonsense_mediated_decay	uc010wpm.2	nonsynonymous SNV	exon5	c.C1088A	p.T363N	VAAIPFDLLIFRTGSDETTTLIGLL	VAAIPFDLLIFRNGSDETTTLIGLL	4.0	3.0	-	-	4007_17:61611659-61611659 C>A_VAAIPFDLLIFRNGSDETTTLIGLL
9:5892482-5892482 G>T	0.0	4007	COLON	-	-	-	-	MLANA	uc003zjo.1,p.R3I|ENST00000381476,p.R3I|ENST00000381471,p.R3I|NM_005511,p.R3I|ENST00000381477,p.R3I	protein_coding, processed_transcript	uc003zjo.1	nonsynonymous SNV	exon2	c.G8T	p.R3I	MPREDAHFIYGYPKK	MPIEDAHFIYGYPKK	1.0	6.0	-	-	4007_9:5892482-5892482 G>T_MPIEDAHFIYGYPKK
20:55750003-55750003 C>T	0.0	4007	COLON	-	-	-	-	BMP7	uc002xyc.3,p.R340Q|NM_001719,p.R340Q|ENST00000450594,p.R340Q|ENST00000395863,p.R340Q|ENST00000395864,p.R274Q|uc010gip.1,p.R340Q	retained_intron, protein_coding, processed_transcript	uc010gip.1	nonsynonymous SNV	exon5	c.G1019A	p.R340Q	QACKKHELYVSFRDLGWQDWIIAPE	QACKKHELYVSFQDLGWQDWIIAPE	4.0	3.0	-	-	4007_20:55750003-55750003 C>T_QACKKHELYVSFQDLGWQDWIIAPE
11:40136396-40136396 C>A	0.0	4007	COLON	-	-	ID=COSM1256837;OCCURENCE=1(oesophagus)	-	LRRC4C	ENST00000527150,p.D483Y|ENST00000278198,p.D483Y|NM_001258419,p.D483Y|uc021qgf.1,p.D483Y|NM_020929,p.D483Y|ENST00000528697,p.D483Y|uc001mxb.2,p.D479Y|uc031pzu.1,p.D483Y|uc031pzs.1,p.D479Y|uc031pzt.1,p.D483Y|ENST00000530763,p.D483Y	protein_coding, processed_transcript	uc031pzu.1	nonsynonymous SNV	exon5	c.G1447T	p.D483Y	TTDNNVGPTPVVDWETTNVTTSLTP	TTDNNVGPTPVVYWETTNVTTSLTP	3.0	6.0	-	-	4007_11:40136396-40136396 C>A_TTDNNVGPTPVVYWETTNVTTSLTP
1:247587374-247587374 A>T	0.0	4007	COLON	-	-	-	-	NLRP3	uc010pyw.2,p.D208V|uc001icu.3,p.D210V|NM_004895,p.D210V|NM_001243133,p.D208V|uc001ict.1,p.D208V|uc001ics.3,p.D210V|NM_183395,p.D210V|NM_001079821,p.D210V|ENST00000366497,p.D210V|ENST00000366496,p.D210V|ENST00000391827,p.D210V|ENST00000348069,p.D210V|NM_001127462,p.D210V|NM_001127461,p.D210V|uc001icr.3,p.D210V|uc001icv.3,p.D210V|ENST00000391828,p.D210V|uc001icw.3,p.D210V|ENST00000336119,p.D210V	protein_coding, processed_transcript	uc010pyw.2	nonsynonymous SNV	exon3	c.A623T	p.D208V	SPVSPIKMELLFDPDDEHSEPVHTV	SPVSPIKMELLFVPDDEHSEPVHTV	3.0	8.0	-	-	4007_1:247587374-247587374 A>T_SPVSPIKMELLFVPDDEHSEPVHTV
18:14542802-14542802 C>T	0.0	4007	COLON	-	-	-	-	POTEC	ENST00000358970,p.S115N|ENST00000511306,p.S115N|NM_001137671,p.S115N|uc010dln.3,p.S115N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dln.3	nonsynonymous SNV	exon1	c.G344A	p.S115N	CHCFPCCRGSGKSNVGAWGDYDDSA	CHCFPCCRGSGKNNVGAWGDYDDSA	1.0	7.0	-	-	4007_18:14542802-14542802 C>T_CHCFPCCRGSGKNNVGAWGDYDDSA
5:112174938-112174938 ->GAATACG	0.0	4007	COLON	-	-	-	1	APC	NM_000038,p.E1216fs|NM_001127511,p.E1198fs|uc011cvt.2,p.E1198fs|ENST00000512211,p.E1216fs|uc010jbz.3,p.E933fs|uc003kpz.4,p.E1216fs|uc010jca.3,p.E516fs|ENST00000508376,p.E1216fs|ENST00000257430,p.E1216fs|NM_001127510,p.E1216fs|ENST00000457016,p.E1216fs|uc003kpy.4,p.E1216fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	frameshift insertion	exon14	c.3593_3594insGAATACG	p.E1198fs	QSSKTEHMSSSSENTSTPSSNAKRQ	QSSKTEHMSSSSENTEYVHTFI	4.0	5.0	-	-	4007_5:112174938-112174938 ->GAATACG_QSSKTEHMSSSSENTEYVHTFI
7:120610743-120610745 AAC>-	0.0	4007	COLON	-	-	-	-	ING3	uc003vjn.3,p.304_304del|ENST00000431467,p.289_289del|ENST00000315870,p.304_304del|uc011kns.2,p.289_289del|NM_019071,p.304_304del|uc003vjo.3,p.78_78del|uc003vjp.3,p.304_304del	retained_intron, protein_coding, nonsense_mediated_decay	uc011kns.2	nonframeshift deletion	exon9	c.865_867del	p.289_289del	SAADSRSGRKSKNNNKSSSQQSSSS	SAADSRSGRKSKNNKSSSQQSSSSS	7.0	3.0	-	-	4007_7:120610743-120610745 AAC>-_SAADSRSGRKSKNNKSSSQQSSSSS
17:1401363-1401363 C>T	1.0	4007	COLON	-	-	-	-	INPP5K	NM_016532,p.R277Q|ENST00000421807,p.R277Q|uc002fsr.3,p.R277Q|uc002fss.3,p.R201Q|ENST00000449479,p.R185Q|ENST00000320345,p.R201Q|ENST00000542125,p.R181Q|uc010vql.2,p.R185Q|NM_130766,p.R201Q|ENST00000397335,p.R185Q|uc010vqm.2,p.R181Q|ENST00000574561,p.R33Q|ENST00000406424,p.R201Q|uc002fsq.3,p.R201Q|uc010cjr.3,p.R201Q|NM_001135642,p.R201Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010vqm.2	nonsynonymous SNV	exon6	c.G542A	p.R181Q	PAWTDRILWRLKRQPCAGPDTPIPP	PAWTDRILWRLKQQPCAGPDTPIPP	7.0	6.0	-	-	4007_17:1401363-1401363 C>T_PAWTDRILWRLKQQPCAGPDTPIPP
9:107361003-107361003 G>A	0.0	4007	COLON	0.0009	-	ID=COSM232951;OCCURENCE=1(skin)	-	OR13C5	uc011lvp.2,p.S231L|NM_001004482,p.S231L|ENST00000374779,p.S231L	protein_coding	uc011lvp.2	nonsynonymous SNV	exon1	c.C692T	p.S231L	TLIILSIFKISSSEGRSKPSSTCSA	TLIILSIFKISSLEGRSKPSSTCSA	1.0	6.0	-	-	4007_9:107361003-107361003 G>A_TLIILSIFKISSLEGRSKPSSTCSA
19:6583322-6583322 C>T	0.0	4007	COLON	-	-	-	-	TNFSF9,CD70	ENST00000423145,p.V206I|uc010xjf.1,p.V206I	protein_coding	uc010xjf.1	nonsynonymous SNV	exon4	c.G616A	p.V206I	HCSHFTDEENRGVNR	HCSHFTDEENRGINR	3.0	5.0	-	-	4007_19:6583322-6583322 C>T_HCSHFTDEENRGINR
1:115166229-115166229 C>T	0.0	4007	COLON	0.0005	-	ID=COSM894205,COSM3788470;OCCURENCE=1(endometrium),1(urinary_tract)	-	DENND2C	ENST00000393276,p.R281Q|uc001efc.1,p.R281Q|ENST00000393274,p.R281Q|NM_198459,p.R281Q|ENST00000393277,p.R281Q|uc001efd.1,p.R281Q|NM_001256404,p.R281Q	protein_coding, processed_transcript	uc001efd.1	nonsynonymous SNV	exon5	c.G842A	p.R281Q	RKSFEFEDIQHFRNRNSQTIREELG	RKSFEFEDIQHFQNRNSQTIREELG	2.0	4.0	-	-	4007_1:115166229-115166229 C>T_RKSFEFEDIQHFQNRNSQTIREELG
11:20982054-20982054 T>G	0.0	4007	COLON	-	-	-	-	NELL1	ENST00000325319,p.C359W|NM_201551,p.C416W|uc001mqf.3,p.C416W|ENST00000298925,p.C444W|uc010rdp.2,p.C176W|ENST00000357134,p.C416W|NM_006157,p.C416W|uc009yid.3,p.C444W|uc001mqe.3,p.C416W|uc010rdo.2,p.C359W|NM_001288714,p.C359W|NM_001288713,p.C444W|ENST00000532434,p.C416W	retained_intron, protein_coding, processed_transcript	uc010rdp.2	nonsynonymous SNV	exon9	c.T528G	p.C176W	NSECKNWNTKATCECKSGYISVQGD	NSECKNWNTKATWECKSGYISVQGD	1.0	6.0	-	-	4007_11:20982054-20982054 T>G_NSECKNWNTKATWECKSGYISVQGD
20:56284590-56284590 ->C	1.0	4014	LUNG	-	-	-	-	PMEPA1	ENST00000395819,p.Q17fs	protein_coding, processed_transcript	ENST00000395819	frameshift insertion	exon1	c.48dupG	p.Q17fs	MGVNSTAAAAAGQPNVSCTCNCKRS	MGVNSTAAAAAGAAQCLLHVQLQTLFVPEHGDQLSWIPSMQVASASGVEESLLVLKVSRRGQFHHWLWEHESDKSSHEFA	10.0	5.0	-	-	4014_20:56284590-56284590 ->C_MGVNSTAAAAAGAAQCLLHVQLQTLFVPEHGDQLSWIPSMQVASASGVEESLLVLKVSRRGQFHHWLWEHESDKSSHEFA
20:62198267-62198267 T>C	1.0	4014	LUNG	-	-	-	-	HELZ2	ENST00000467148,p.Y815C|ENST00000427522,p.Y246C|uc002yfl.1,p.Y246C|NM_001037335,p.Y815C|uc002yfm.2,p.Y815C|NM_033405,p.Y246C	retained_intron, protein_coding, processed_transcript	uc002yfm.2	nonsynonymous SNV	exon7	c.A2444G	p.Y815C	EIAQVVEKVQEAYNTWPSCWGGREQ	EIAQVVEKVQEACNTWPSCWGGREQ	7.0	4.0	-	-	4014_20:62198267-62198267 T>C_EIAQVVEKVQEACNTWPSCWGGREQ
12:25380276-25380276 T>A	1.0	4014	LUNG	-	-	ID=COSM1140131,COSM553;OCCURENCE=15(lung),2(thyroid),2(haematopoietic_and_lymphoid_tissue),1(stomach),1(small_intestine),1(breast),4(skin),3(biliary_tract),52(large_intestine),1(kidney),2(pancreas),2(urinary_tract),1(soft_tissue),3(endometrium),1(salivary_gland)	1	KRAS	NM_004985,p.Q61L|uc001rgp.1,p.Q61L|ENST00000256078,p.Q61L|NM_033360,p.Q61L|uc001rgq.1,p.Q61L|ENST00000311936,p.Q61L	protein_coding	uc001rgq.1	nonsynonymous SNV	exon3	c.A182T	p.Q61L	ETCLLDILDTAGQEEYSAMRDQYMR	ETCLLDILDTAGLEEYSAMRDQYMR	8.0	8.0	-	-	4014_12:25380276-25380276 T>A_ETCLLDILDTAGLEEYSAMRDQYMR
X:47098812-47098812 G>T	1.0	4014	LUNG	-	-	-	-	USP11	uc004dhp.3,p.A160S|ENST00000218348,p.A160S|ENST00000377107,p.A117S|NM_004651,p.A160S	retained_intron, protein_coding	uc004dhp.3	nonsynonymous SNV	exon3	c.G478T	p.A160S	GLVEGEDYVLLPAAAWHYLVSWYGL	GLVEGEDYVLLPSAAWHYLVSWYGL	8.0	9.0	CD8	-	4014_X:47098812-47098812 G>T_GLVEGEDYVLLPSAAWHYLVSWYGL
X:74334652-74334652 T>A	1.0	4014	LUNG	-	-	-	-	ABCB7	uc010nls.4,p.L62F|ENST00000253577,p.L62F|uc004ebz.4,p.L62F|NM_004299,p.L62F|NM_001271699,p.L62F|ENST00000526404,p.L74F	retained_intron, protein_coding, processed_transcript	uc010nls.4	nonsynonymous SNV	exon2	c.A186T	p.L62F	GTARAYQQIPESLKSITWQRLGKGN	GTARAYQQIPESFKSITWQRLGKGN	7.0	10.0	-	-	4014_X:74334652-74334652 T>A_GTARAYQQIPESFKSITWQRLGKGN
1:40214606-40214606 G>T	1.0	4014	LUNG	-	-	-	-	PPIE	NM_203456,p.K180N|uc001cdx.2,p.K96N|NM_006112,p.K180N|uc010oiy.2,p.K101N|uc001cdv.3,p.K180N|uc001cds.2,p.K180N|uc001cdt.2,p.K114N|ENST00000372835,p.K129N|ENST00000356511,p.K180N|ENST00000324379,p.K180N|ENST00000372830,p.K180N|NM_001195007,p.K180N|uc001cdw.3,p.K180N|ENST00000497370,p.K114N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010oiy.2	nonsynonymous SNV	exon8	c.G303T	p.K101N	TAENFRCLCTHEKGFGFKGSSFHRI	TAENFRCLCTHENGFGFKGSSFHRI	9.0	9.0	-	-	4014_1:40214606-40214606 G>T_TAENFRCLCTHENGFGFKGSSFHRI
X:74334652-74334652 T>A	1.0	4014	LUNG	-	-	-	-	ABCB7	NM_001271696,p.L61F|NM_001271697,p.L61F|ENST00000339447,p.L61F|uc004eca.4,p.L61F|ENST00000373394,p.L61F|uc010nlt.4,p.L61F	retained_intron, protein_coding, processed_transcript	uc010nlt.4	nonsynonymous SNV	exon2	c.A183T	p.L61F	LGTARAYQIPESLKSITWQRLGKGN	LGTARAYQIPESFKSITWQRLGKGN	7.0	10.0	-	-	4014_X:74334652-74334652 T>A_LGTARAYQIPESFKSITWQRLGKGN
3:50357346-50357346 C>A	1.0	4014	LUNG	-	-	-	-	HYAL2	uc003czv.3,p.R192L|ENST00000447092,p.R192L|ENST00000442581,p.R192L|uc010hlj.2,p.R192L|uc003czx.3,p.R192L|ENST00000357750,p.R192L|NM_003773,p.R192L|ENST00000395139,p.R192L|uc003czw.3,p.R192L|NM_033158,p.R192L	retained_intron, protein_coding	uc010hlj.2	nonsynonymous SNV	exon2	c.G575T	p.R192L	EFAAQQFMLETLRYVKAVRPRHLWG	EFAAQQFMLETLLYVKAVRPRHLWG	10.0	4.0	-	-	4014_3:50357346-50357346 C>A_EFAAQQFMLETLLYVKAVRPRHLWG
16:1258097-1258097 C>A	1.0	4014	LUNG	-	-	-	-	CACNA1H	uc002cks.3,p.T1080K|ENST00000358590,p.T1080K|NM_021098,p.T1080K|uc002ckt.3,p.T1080K|ENST00000348261,p.T1080K|NM_001005407,p.T1080K|ENST00000565831,p.T1080K	retained_intron, protein_coding	uc002ckt.3	nonsynonymous SNV	exon16	c.C3239A	p.T1080K	GRGSLSPPLIMCTAATPMPTPKSSP	GRGSLSPPLIMCKAATPMPTPKSSP	5.0	6.0	-	-	4014_16:1258097-1258097 C>A_GRGSLSPPLIMCKAATPMPTPKSSP
1:29019490-29019490 C>T	1.0	4014	LUNG	-	-	-	-	GMEB1	ENST00000373816,p.H125Y|ENST00000361872,p.H125Y|uc001bqz.3,p.H125Y|uc001bra.3,p.H135Y|NM_024482,p.H125Y|ENST00000294409,p.H135Y|uc001brb.3,p.H125Y|NM_006582,p.H135Y	protein_coding, processed_transcript	uc001brb.3	nonsynonymous SNV	exon5	c.C373T	p.H125Y	FNDQLISPKHFVHLAGKSTLKDWKR	FNDQLISPKHFVYLAGKSTLKDWKR	7.0	9.0	-	-	4014_1:29019490-29019490 C>T_FNDQLISPKHFVYLAGKSTLKDWKR
8:104778518-104778518 T>A	1.0	4014	LUNG	-	-	-	-	RIMS2	NM_001100117,p.F151I|ENST00000406091,p.F151I|uc003ylp.3,p.F151I|ENST00000504942,p.F151I	retained_intron, protein_coding, processed_transcript	uc003ylp.3	nonsynonymous SNV	exon3	c.T451A	p.F151I	KQQEILTKSGAWFYNSGSNTPQQPD	KQQEILTKSGAWIYNSGSNTPQQPD	6.0	6.0	-	-	4014_8:104778518-104778518 T>A_KQQEILTKSGAWIYNSGSNTPQQPD
12:443437-443437 T>A	1.0	4014	LUNG	-	-	-	1	KDM5A	uc001qif.1,p.H487L|ENST00000399788,p.H487L|NM_001042603,p.H487L|uc010sdn.1,p.H446L|ENST00000544760,p.H106L|ENST00000382815,p.H487L|uc010sdo.1,p.H106L	retained_intron, protein_coding, processed_transcript	uc010sdo.1	nonsynonymous SNV	exon2	c.A317T	p.H106L	MCFSSFCWHIEDHWSYSINYLHWGE	MCFSSFCWHIEDLWSYSINYLHWGE	10.0	7.0	-	-	4014_12:443437-443437 T>A_MCFSSFCWHIEDLWSYSINYLHWGE
4:48507593-48507593 C>T	1.0	4014	LUNG	-	-	-	-	FRYL	ENST00000503238,p.D2812N|ENST00000358350,p.D2812N|NM_015030,p.D2812N|uc003gyh.1,p.D2812N	retained_intron, protein_coding, processed_transcript	uc003gyh.1	nonsynonymous SNV	exon60	c.G8434A	p.D2812N	LDDCKRTFGAKEDMYRINTDAQQME	LDDCKRTFGAKENMYRINTDAQQME	8.0	2.0	unscreened	-	4014_4:48507593-48507593 C>T_LDDCKRTFGAKENMYRINTDAQQME
4:48507593-48507593 C>T	1.0	4014	LUNG	-	-	-	-	FRYL	ENST00000264319,p.D208N|ENST00000507873,p.D208N|uc003gyg.1,p.D1508N|uc003gyf.1,p.D208N	retained_intron, protein_coding, processed_transcript	uc003gyg.1	nonsynonymous SNV	exon27	c.G4522A	p.D1508N	LDDCKRTFGAKEDMYRINTDAQELE	LDDCKRTFGAKENMYRINTDAQELE	8.0	2.0	unscreened	-	4014_4:48507593-48507593 C>T_LDDCKRTFGAKENMYRINTDAQELE
4:48507593-48507593 C>T	1.0	4014	LUNG	-	-	-	-	FRYL	ENST00000537810,p.D2812N	retained_intron, protein_coding, processed_transcript	ENST00000537810	nonsynonymous SNV	exon60	c.G8434A	p.D2812N	LDDCKRTFGAKEDMYRINTDAQLNE	LDDCKRTFGAKENMYRINTDAQLNE	8.0	2.0	unscreened	-	4014_4:48507593-48507593 C>T_LDDCKRTFGAKENMYRINTDAQLNE
20:56284590-56284590 ->C	1.0	4014	LUNG	-	-	-	-	PMEPA1	NM_020182,p.Q17fs|ENST00000341744,p.Q17fs|uc002xyq.4,p.Q17fs	protein_coding, processed_transcript	uc002xyq.4	frameshift insertion	exon1	c.48dupG	p.Q17fs	MGVNSTAAAAAGQPNVSCTCNCKRS	MGVNSTAAAAAGAAQCLLHVQLQTLFVPEHGDHGAGVCSDHHHRGGDDGDGGGDHVPAEPLQAVCTVLHQPAQPGAEERRCPVLRRMPVALGEHSVRQRNPRAAGLRPASAHRPPGRAALRPAGALPPLPAHLSVPAARDRPATHHLAVRRGGAPTLPGPLHPPASGPRAAAGTEPGVGARTPKQNHLRQ	10.0	5.0	-	-	4014_20:56284590-56284590 ->C_MGVNSTAAAAAGAAQCLLHVQLQTLFVPEHGDHGAGVCSDHHHRGGDDGDGGGDHVPAEPLQAVCTVLHQPAQPGAEERRCPVLRRMPVALGEHSVRQRNPRAAGLRPASAHRPPGRAALRPAGALPPLPAHLSVPAARDRPATHHLAVRRGGAPTLPGPLHPPASGPRAAAGTEPGVGARTPKQNHLRQ
8:22052249-22052249 G>T	1.0	4014	LUNG	-	-	-	-	BMP1	ENST00000520970,p.D486Y|ENST00000306349,p.D486Y|uc011kzc.2,p.D235Y|ENST00000306385,p.D486Y|uc003xbc.3,p.D235Y|NM_001199,p.D486Y|NM_006129,p.D486Y|uc003xbb.3,p.D486Y|ENST00000471755,p.D486Y|ENST00000397814,p.D486Y|ENST00000397816,p.D486Y|uc003xbf.3,p.D235Y|uc003xbg.3,p.D486Y|ENST00000521385,p.D486Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kzc.2	nonsynonymous SNV	exon12	c.G703T	p.D235Y	GLTFQSFEIERHDSCAYDYLEVRDG	GLTFQSFEIERHYSCAYDYLEVRDG	8.0	10.0	-	-	4014_8:22052249-22052249 G>T_GLTFQSFEIERHYSCAYDYLEVRDG
12:64849705-64849705 G>T	1.0	4014	LUNG	-	-	-	-	TBK1	ENST00000538890,p.A19S|uc001ssc.2,p.A19S|NM_013254,p.A19S|ENST00000540417,p.A19S|ENST00000331710,p.A19S	retained_intron, protein_coding	uc001ssc.2	nonsynonymous SNV	exon2	c.G55T	p.A19S	HLWLLSDILGQGATANVFRGRHKKT	HLWLLSDILGQGSTANVFRGRHKKT	8.0	9.0	-	-	4014_12:64849705-64849705 G>T_HLWLLSDILGQGSTANVFRGRHKKT
12:72007162-72007162 C>A	1.0	4014	LUNG	-	-	-	-	ZFC3H1	ENST00000552994,p.L1860F|ENST00000378743,p.L1860F|uc001swo.2,p.L1860F|NM_144982,p.L1860F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001swo.2	nonsynonymous SNV	exon31	c.G5580T	p.L1860F	LSCVPKTQHSKTLERFCSVMPANSG	LSCVPKTQHSKTFERFCSVMPANSG	9.0	1.0	-	-	4014_12:72007162-72007162 C>A_LSCVPKTQHSKTFERFCSVMPANSG
7:41730009-41730009 G>T	1.0	4014	LUNG	-	-	ID=COSM601369;OCCURENCE=1(lung)	-	INHBA	uc003thq.3,p.R174S|ENST00000242208,p.R174S|NM_002192,p.R174S|uc003thr.3,p.R174S|ENST00000442711,p.R174S	protein_coding, processed_transcript	uc003thr.3	nonsynonymous SNV	exon3	c.C520A	p.R174S	PKANRTRTKVTIRLFQQQKHPQGSL	PKANRTRTKVTISLFQQQKHPQGSL	9.0	5.0	-	-	4014_7:41730009-41730009 G>T_PKANRTRTKVTISLFQQQKHPQGSL
17:62568039-62568039 G>C	1.0	4014	LUNG	-	-	-	-	SMURF2	uc002jer.1,p.P57R|ENST00000585301,p.P285R|NM_022739,p.P298R|uc002jeq.1,p.P57R|ENST00000262435,p.P298R|uc002jep.1,p.P298R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jer.1	nonsynonymous SNV	exon10	c.C170G	p.P57R	RDLSNINCEELGPLPPGWEIRNTAT	RDLSNINCEELGRLPPGWEIRNTAT	8.0	4.0	-	-	4014_17:62568039-62568039 G>C_RDLSNINCEELGRLPPGWEIRNTAT
8:145059637-145059637 C>A	1.0	4014	LUNG	-	-	-	-	PARP10	ENST00000524918,p.D206Y|NM_032789,p.D206Y|uc010mfn.1,p.D121Y|uc011lku.2,p.D218Y|uc003zam.2,p.D206Y|ENST00000525773,p.D218Y|ENST00000313028,p.D206Y|ENST00000527262,p.D206Y|uc003zal.4,p.D206Y|ENST00000313059,p.D121Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lku.2	nonsynonymous SNV	exon3	c.G652T	p.D218Y	ENERRSGGGPLEDLQRLPGPLGTVA	ENERRSGGGPLEYLQRLPGPLGTVA	10.0	6.0	-	-	4014_8:145059637-145059637 C>A_ENERRSGGGPLEYLQRLPGPLGTVA
10:75854204-75854204 G>T	1.0	4014	LUNG	-	-	-	-	VCL	ENST00000211998,p.D510Y|uc001jwe.3,p.D510Y|NM_014000,p.D510Y|uc001jwd.3,p.D510Y|ENST00000372755,p.D510Y|NM_003373,p.D510Y|ENST00000436396,p.D182Y|uc010qky.1,p.D417Y|uc009xrr.3,p.D259Y	protein_coding, processed_transcript	uc010qky.1	nonsynonymous SNV	exon10	c.G1249T	p.D417Y	EQAQRWIDNPTVDDRGVGQAAIRGL	EQAQRWIDNPTVYDRGVGQAAIRGL	9.0	1.0	-	-	4014_10:75854204-75854204 G>T_EQAQRWIDNPTVYDRGVGQAAIRGL
4:887196-887196 C>A	1.0	4014	LUNG	-	-	-	-	GAK	uc003gbm.4,p.R320L|ENST00000511163,p.R241L|NM_001286833,p.R222L|uc003gbl.4,p.R184L|ENST00000314167,p.R320L|uc010ibk.1,p.R214L|NM_005255,p.R320L|uc003gbn.4,p.R241L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ibk.1	nonsynonymous SNV	exon6	c.G641T	p.R214L	EVVHQLQEIAAARNVNPKSPITELL	EVVHQLQEIAAALNVNPKSPITELL	9.0	6.0	-	-	4014_4:887196-887196 C>A_EVVHQLQEIAAALNVNPKSPITELL
X:118771042-118771042 T>C	1.0	4014	LUNG	-	-	-	2	SEPT6	uc004eru.3,p.K302E|uc004ert.3,p.K302E|uc004erv.3,p.K302E|uc011mtv.1,p.K244E|NM_145799,p.K302E|ENST00000360156,p.K302E|ENST00000354228,p.K302E|uc004ers.3,p.K302E|NM_145802,p.K302E|uc011mtw.1,p.K332E|ENST00000394617,p.K332E|ENST00000354416,p.K302E|ENST00000343984,p.K302E|NM_145800,p.K302E|ENST00000394616,p.K244E|NM_015129,p.K302E|uc004erw.3,p.K244E|ENST00000489216,p.K302E|ENST00000394610,p.K302E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mtw.1	nonsynonymous SNV	exon8	c.A994G	p.K332E	THTRHYELYRRCKLEEMGFKDTDPD	THTRHYELYRRCELEEMGFKDTDPD	9.0	10.0	-	-	4014_X:118771042-118771042 T>C_THTRHYELYRRCELEEMGFKDTDPD
12:131357634-131357634 G>A	1.0	4014	LUNG	-	-	-	-	RAN	uc001uis.3,p.E90K|ENST00000543796,p.E70K|ENST00000535090,p.E66K|ENST00000448750,p.E88K|uc001uir.3,p.E70K|ENST00000392367,p.E70K|NM_006325,p.E70K|ENST00000392369,p.E70K	retained_intron, protein_coding, nonsense_mediated_decay	uc001uis.3	nonsynonymous SNV	exon3	c.G268A	p.E90K	PIKFNVWDTAGQEKFGGLRDGYYIQ	PIKFNVWDTAGQKKFGGLRDGYYIQ	10.0	6.0	-	-	4014_12:131357634-131357634 G>A_PIKFNVWDTAGQKKFGGLRDGYYIQ
19:12874172-12874172 C>A	1.0	4014	LUNG	-	-	-	-	HOOK2	uc002muz.2,p.R693L|uc002muy.2,p.R695L|ENST00000397668,p.R695L|ENST00000264827,p.R693L|NM_001100176,p.R693L|NM_013312,p.R695L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002muz.2	nonsynonymous SNV	exon22	c.G2078T	p.R693L	APAHAQSFLAQQRLATNSRRGPLGR	APAHAQSFLAQQLLATNSRRGPLGR	10.0	10.0	-	-	4014_19:12874172-12874172 C>A_APAHAQSFLAQQLLATNSRRGPLGR
16:1733529-1733529 G>A	1.0	4014	LUNG	-	-	-	-	HN1L	uc010uvj.2,p.G22R|ENST00000562684,p.G22R|ENST00000569765,p.G22R|uc010uvi.2,p.G22R|ENST00000566925,p.G22R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uvj.2	nonsynonymous SNV	exon2	c.G64A	p.G22R	GRAGSRKWQLLTGSLASTSPSLLSG	GRAGSRKWQLLTRSLASTSPSLLSG	10.0	3.0	-	-	4014_16:1733529-1733529 G>A_GRAGSRKWQLLTRSLASTSPSLLSG
2:88327788-88327788 C>A	1.0	4014	LUNG	-	-	-	-	KRCC1	uc002sso.1,p.D99Y|uc002ssp.1,p.D99Y|NM_016618,p.D99Y|uc021vko.1,p.D99Y|ENST00000347055,p.D99Y	protein_coding	uc021vko.1	nonsynonymous SNV	exon1	c.G295T	p.D99Y	QWLPAHDSRLRLDSLSYCQFTRDCF	QWLPAHDSRLRLYSLSYCQFTRDCF	9.0	6.0	-	-	4014_2:88327788-88327788 C>A_QWLPAHDSRLRLYSLSYCQFTRDCF
22:44528838-44528838 G>T	1.0	4014	LUNG	-	-	-	-	PARVB	uc003ben.3,p.R194S|ENST00000338758,p.R194S|ENST00000404989,p.R157S|NM_001243385,p.R157S|ENST00000406477,p.R227S|uc003bem.3,p.R227S|NM_013327,p.R194S|uc010gzn.3,p.R142S|uc003beo.3,p.R157S|NM_001003828,p.R227S|NM_001243386,p.R142S	protein_coding, processed_transcript	uc010gzn.3	nonsynonymous SNV	exon6	c.G426T	p.R142S	ILHLLVSLAMHFRAPIRLPEHVTVQ	ILHLLVSLAMHFSAPIRLPEHVTVQ	9.0	4.0	-	-	4014_22:44528838-44528838 G>T_ILHLLVSLAMHFSAPIRLPEHVTVQ
1:118008999-118008999 A>G	1.0	4014	LUNG	-	-	-	-	MAN1A2	ENST00000356554,p.N373S|NM_006699,p.N373S|uc001ehd.1,p.N373S|uc009whg.1,p.N163S	protein_coding, processed_transcript	uc009whg.1	nonsynonymous SNV	exon6	c.A488G	p.N163S	HIRKLLQKMDRPNGLYPNYLNPRTG	HIRKLLQKMDRPSGLYPNYLNPRTG	8.0	7.0	-	-	4014_1:118008999-118008999 A>G_HIRKLLQKMDRPSGLYPNYLNPRTG
1:40214606-40214606 G>T	1.0	4014	LUNG	-	-	-	-	PPIE	ENST00000470213,p.R139M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000470213	nonsynonymous SNV	exon7	c.G416T	p.R139M	QERISAACALMKRALALREAASTAS	QERISAACALMKMALALREAASTAS	9.0	9.0	-	-	4014_1:40214606-40214606 G>T_QERISAACALMKMALALREAASTAS
10:49984956-49984956 C>T	0.0	4014	LUNG	-	-	ID=COSM218273;OCCURENCE=2(pancreas)	-	WDFY4	ENST00000413659,p.H1009Y	protein_coding, processed_transcript	ENST00000413659	nonsynonymous SNV	exon15	c.C3025T	p.H1009Y	QTALSLISMTSPHIWKPNIWKDNLA	QTALSLISMTSPYIWKPNIWKDNLA	6.0	1.0	unscreened	-	4014_10:49984956-49984956 C>T_QTALSLISMTSPYIWKPNIWKDNLA
11:36298654-36298654 C>A	1.0	4014	LUNG	-	-	-	-	COMMD9	uc010rfb.1,p.A113S	retained_intron, protein_coding, processed_transcript	uc010rfb.1	nonsynonymous SNV	exon4	c.G337T	p.A113S	IILEHVSTWRTEAQANQSEYQ	IILEHVSTWRTESQANQSEYQ	9.0	2.0	unscreened	-	4014_11:36298654-36298654 C>A_IILEHVSTWRTESQANQSEYQ
9:72962564-72962564 A>G	1.0	4014	LUNG	-	-	-	-	SMC5	uc011lry.1,p.I45M|ENST00000361138,p.I900M|uc004ahr.2,p.I900M|NM_015110,p.I900M	protein_coding, processed_transcript	uc011lry.1	nonsynonymous SNV	exon3	c.A135G	p.I45M	TIVQEYTKREEEIEQLTEELKGKKV	TIVQEYTKREEEMEQLTEELKGKKV	7.0	9.0	-	-	4014_9:72962564-72962564 A>G_TIVQEYTKREEEMEQLTEELKGKKV
9:139110558-139110558 C>A	1.0	4014	LUNG	-	-	-	-	QSOX2	uc010nbi.2,p.K351N|ENST00000358701,p.K351N|NM_181701,p.K351N	protein_coding	uc010nbi.2	nonsynonymous SNV	exon8	c.G1053T	p.K351N	LAAHKSLAGAELKTLKDFVTVLAKL	LAAHKSLAGAELNTLKDFVTVLAKL	6.0	2.0	-	-	4014_9:139110558-139110558 C>A_LAAHKSLAGAELNTLKDFVTVLAKL
17:61838331-61838331 C>A	1.0	4014	LUNG	-	-	-	-	CCDC47	ENST00000582252,p.K226N|uc002jbt.2,p.K226N|ENST00000403162,p.K226N|uc002jbs.4,p.K226N|uc010ddx.3,p.K226N|NM_020198,p.K226N|ENST00000225726,p.K226N	retained_intron, protein_coding	uc010ddx.3	nonsynonymous SNV	exon7	c.G678T	p.K226N	CCEGMLIQLRFLKRQDLLNVLARMM	CCEGMLIQLRFLNRQDLLNVLARMM	10.0	6.0	-	-	4014_17:61838331-61838331 C>A_CCEGMLIQLRFLNRQDLLNVLARMM
19:7975345-7975345 G>T	1.0	4014	LUNG	-	-	-	-	MAP2K7	NM_001297556,p.R152L|ENST00000545011,p.R194L|ENST00000397981,p.R152L|NM_001297555,p.R168L|uc010dvv.3,p.R27L|uc002miv.2,p.R152L|ENST00000397983,p.R168L|NM_145185,p.R152L|ENST00000397979,p.R152L|uc010xkb.2,p.R152L|uc002mit.3,p.R152L	retained_intron, protein_coding	uc010xkb.2	nonsynonymous SNV	exon5	c.G455T	p.R152L	RKTGHVIAVKQMRRSGNKEENKRIL	RKTGHVIAVKQMLRSGNKEENKRIL	8.0	9.0	-	-	4014_19:7975345-7975345 G>T_RKTGHVIAVKQMLRSGNKEENKRIL
7:137150730-137150730 C>A	0.0	4014	LUNG	-	-	ID=COSM364082;OCCURENCE=1(lung)	-	DGKI	uc003vtu.3,p.D564Y|ENST00000424189,p.D867Y|NM_004717,p.D854Y|ENST00000453654,p.D564Y|uc003vtt.3,p.D854Y|ENST00000288490,p.D854Y|ENST00000446122,p.D836Y	retained_intron, protein_coding, processed_transcript	uc003vtu.3	nonsynonymous SNV	exon27	c.G1690T	p.D564Y	VMEISQDEIFILDPDMVVSQPAGTP	VMEISQDEIFILYPDMVVSQPAGTP	5.0	6.0	-	-	4014_7:137150730-137150730 C>A_VMEISQDEIFILYPDMVVSQPAGTP
15:43444121-43444121 C>A	1.0	4014	LUNG	-	-	-	-	TMEM62	ENST00000260403,p.L334I|uc001zqr.3,p.L334I|NM_024956,p.L334I|uc010bda.3,p.L204I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bda.3	nonsynonymous SNV	exon7	c.C610A	p.L204I	LYSCGEHEPLERLLHSTHIRVLAFS	LYSCGEHEPLERILHSTHIRVLAFS	8.0	9.0	-	-	4014_15:43444121-43444121 C>A_LYSCGEHEPLERILHSTHIRVLAFS
13:42358028-42358028 G>A	1.0	4014	LUNG	-	-	-	-	VWA8	uc001uyk.3,p.T727I|uc001uyj.3,p.T727I|ENST00000379310,p.T727I|ENST00000281496,p.T727I|NM_001009814,p.T727I|NM_015058,p.T727I	protein_coding, processed_transcript	uc001uyk.3	nonsynonymous SNV	exon19	c.C2180T	p.T727I	LEPELKDYKCEVTSGTLRIGAVSAP	LEPELKDYKCEVISGTLRIGAVSAP	6.0	7.0	-	-	4014_13:42358028-42358028 G>A_LEPELKDYKCEVISGTLRIGAVSAP
14:31171541-31171541 G>C	1.0	4014	LUNG	-	-	-	-	SCFD1	uc001wqm.2,p.G484R|ENST00000541123,p.G299R|ENST00000396629,p.G392R|ENST00000544052,p.G417R|NM_001283031,p.G299R|uc001wqn.2,p.G417R|uc010tpg.2,p.G425R|uc010amf.2,p.G299R|NM_001283032,p.G425R|NM_016106,p.G484R|NM_001257376,p.G392R|uc010tpi.2,p.G392R|ENST00000421551,p.G425R|uc010tph.2,p.G299R|NM_001283033,p.G299R|uc010amd.2,p.G316R|NM_182835,p.G417R|ENST00000458591,p.G484R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tpi.2	nonsynonymous SNV	exon15	c.G1174C	p.G392R	DLEQYKKALTDAGCNLNPLQYIKQW	DLEQYKKALTDARCNLNPLQYIKQW	9.0	2.0	-	-	4014_14:31171541-31171541 G>C_DLEQYKKALTDARCNLNPLQYIKQW
2:105894076-105894076 C>A	1.0	4014	LUNG	-	-	-	-	TGFBRAP1	uc002tcq.3,p.V506F|ENST00000258449,p.V506F|ENST00000393359,p.V506F|NM_004257,p.V506F|uc002tcr.4,p.V506F|uc010fjc.3,p.V276F|NM_001142621,p.V506F	protein_coding	uc010fjc.3	nonsynonymous SNV	exon5	c.G826T	p.V276F	LLYHYNNQDAAAVQLWVNIVNGDVQ	LLYHYNNQDAAAFQLWVNIVNGDVQ	6.0	8.0	CD8	-	4014_2:105894076-105894076 C>A_LLYHYNNQDAAAFQLWVNIVNGDVQ
5:172395474-172395474 C>G	1.0	4014	LUNG	-	-	-	-	RPL26L1	ENST00000519239,p.H61D|ENST00000519156,p.H61D|ENST00000265100,p.H61D|uc003mcc.3,p.H61D|NM_016093,p.H61D|ENST00000519974,p.H61D|ENST00000521476,p.H61D	protein_coding	uc003mcc.3	nonsynonymous SNV	exon3	c.C181G	p.H61D	IRKDDEVQVVRGHYKGQQIGKVVQV	IRKDDEVQVVRGDYKGQQIGKVVQV	10.0	2.0	-	-	4014_5:172395474-172395474 C>G_IRKDDEVQVVRGDYKGQQIGKVVQV
6:37414159-37414159 A>T	1.0	4014	LUNG	-	-	-	-	CMTR1	ENST00000373451,p.R126S|ENST00000455891,p.R126S|NM_015050,p.R126S|uc010jwu.2,p.R126S|uc003ons.3,p.R126S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010jwu.2	nonsynonymous SNV	exon4	c.A378T	p.R126S	KDIVEASSQKGRRGLGLTLRGFDQE	KDIVEASSQKGRSGLGLTLRGFDQE	8.0	8.0	-	-	4014_6:37414159-37414159 A>T_KDIVEASSQKGRSGLGLTLRGFDQE
8:11689111-11689111 G>C	1.0	4014	LUNG	-	-	-	-	FDFT1	NM_001287756,p.V155L|NM_001287742,p.V322L|uc003wui.3,p.V322L|ENST00000530664,p.V258L|NM_001287749,p.V258L|ENST00000528643,p.V237L|uc010lsa.1,p.V237L|uc010lsb.3,p.V258L|uc011kxe.2,p.V258L|ENST00000220584,p.V322L|NM_001287748,p.V258L|ENST00000443614,p.V279L|uc011kxh.2,p.V258L|NM_001287744,p.V258L|uc003wuh.3,p.V258L|NM_001287743,p.V322L|uc011kxk.2,p.V237L|ENST00000528812,p.V258L|uc011kxf.2,p.V279L|uc011kxg.2,p.V155L|NM_001287747,p.V258L|NM_004462,p.V322L|uc011kxj.2,p.V258L|NM_001287750,p.V381L|ENST00000525900,p.V315L|NM_001287745,p.V258L|ENST00000525777,p.V237L|ENST00000538689,p.V211L|NM_001287751,p.V237L|uc022ary.1,p.V258L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022ary.1	nonsynonymous SNV	exon6	c.G772C	p.V258L	FKGAVKIRKGQAVTLMMDATNMPAV	FKGAVKIRKGQALTLMMDATNMPAV	10.0	1.0	-	-	4014_8:11689111-11689111 G>C_FKGAVKIRKGQALTLMMDATNMPAV
17:6483102-6483102 ->A	0.0	4014	LUNG	-	-	-	-	KIAA0753	ENST00000589033,p.V413fs|ENST00000572370,p.V658fs|ENST00000361413,p.V957fs|uc002gde.4,p.V957fs|uc010clo.3,p.V658fs|ENST00000542606,p.V658fs|uc010vte.2,p.V658fs|uc010vtd.2,p.V413fs|NM_014804,p.V957fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vte.2	frameshift insertion	exon18	c.1971dupT	p.V658fs	ELQDMCEDYAEAVFTSEFLEAAT	ELQDMCEDYAEACVHLRILRGCYI	6.0	4.0	unscreened	-	4014_17:6483102-6483102 ->A_ELQDMCEDYAEACVHLRILRGCYI
7:99956535-99956535 G>T	1.0	4014	LUNG	-	-	-	-	PILRB	ENST00000310771,p.R96L|uc022aim.1,p.R96L|ENST00000452089,p.R96L|uc003uun.3,p.R96L|ENST00000419749,p.R96L|NM_178238,p.R96L|ENST00000444073,p.R96L|ENST00000457519,p.R96L|ENST00000443526,p.R96L|ENST00000438231,p.R96L|ENST00000422808,p.R96L	retained_intron, protein_coding, processed_transcript	uc022aim.1	nonsynonymous SNV	exon7	c.G287T	p.R96L	TRPPSIHKDYVNRLFLNWTEGQESG	TRPPSIHKDYVNLLFLNWTEGQESG	10.0	6.0	-	-	4014_7:99956535-99956535 G>T_TRPPSIHKDYVNLLFLNWTEGQESG
3:172013201-172013201 G>C	1.0	4014	LUNG	-	-	-	-	FNDC3B	ENST00000336824,p.V300L|NM_022763,p.V300L|NM_001135095,p.V300L|uc003fia.3,p.V231L|ENST00000415807,p.V300L|ENST00000416957,p.V300L|uc003fhy.3,p.V300L|uc003fhz.4,p.V300L	retained_intron, protein_coding, processed_transcript	uc003fia.3	nonsynonymous SNV	exon6	c.G691C	p.V231L	QARAVVLSWAPPVGLSCGPHSGLSF	QARAVVLSWAPPLGLSCGPHSGLSF	9.0	9.0	-	-	4014_3:172013201-172013201 G>C_QARAVVLSWAPPLGLSCGPHSGLSF
1:184663278-184663278 ->T	1.0	4014	LUNG	-	-	-	-	EDEM3	ENST00000367512,p.K879fs|NM_025191,p.K906fs|uc010pom.2,p.K922fs|ENST00000318130,p.K906fs|uc010pok.2,p.K906fs|ENST00000439962,p.K354fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pom.2	frameshift insertion	exon21	c.2765dupA	p.K922fs	EEDSNPNVSWGKKVQPIDSILADWN	EEDSNPNVSWGKKGPAYRLHISRLE	7.0	9.0	-	-	4014_1:184663278-184663278 ->T_EEDSNPNVSWGKKGPAYRLHISRLE
3:11871244-11871244 G>A	1.0	4014	LUNG	-	-	-	-	TAMM41	ENST00000273037,p.P169L|uc003bwh.3,p.P169L|NM_138807,p.P169L|uc011auo.1,p.P169L|NM_001284401,p.P169L|ENST00000455809,p.P169L|ENST00000444133,p.P169L	retained_intron, protein_coding, nonsense_mediated_decay	uc011auo.1	nonsynonymous SNV	exon4	c.C506T	p.P169L	LKSAVTAAFLMLPESFSEEDLFIEI	LKSAVTAAFLMLLESFSEEDLFIEI	6.0	3.0	-	-	4014_3:11871244-11871244 G>A_LKSAVTAAFLMLLESFSEEDLFIEI
13:58298875-58298875 C>A	0.0	4014	LUNG	-	-	-	-	PCDH17	uc010aec.1,p.P975H|uc001vhq.1,p.P976H|ENST00000377918,p.P976H|NM_001040429,p.P976H|uc001vhr.1,p.P65H	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon4	c.C2924A	p.P975H	AENADYRTNLFVPTVEANVETETYE	AENADYRTNLFVHTVEANVETETYE	6.0	5.0	-	-	4014_13:58298875-58298875 C>A_AENADYRTNLFVHTVEANVETETYE
11:36298654-36298654 C>A	1.0	4014	LUNG	-	-	-	-	COMMD9	uc009ykj.3,p.A71S|ENST00000452374,p.A71S|NM_014186,p.A113S|uc001mwn.4,p.A113S|ENST00000263401,p.A113S|NM_001101653,p.A71S	retained_intron, protein_coding, processed_transcript	uc009ykj.3	nonsynonymous SNV	exon3	c.G211T	p.A71S	IILEHVSTWRTEAQANQISLPRLVD	IILEHVSTWRTESQANQISLPRLVD	9.0	2.0	unscreened	-	4014_11:36298654-36298654 C>A_IILEHVSTWRTESQANQISLPRLVD
15:41191888-41191888 G>A	1.0	4014	LUNG	-	-	-	-	VPS18	ENST00000220509,p.G291D|NM_020857,p.G291D|uc001zne.3,p.G291D	protein_coding, nonsense_mediated_decay	uc001zne.3	nonsynonymous SNV	exon4	c.G872A	p.G291D	SAPRAFAWMMGDGVLYGALDCGRPD	SAPRAFAWMMGDDVLYGALDCGRPD	7.0	8.0	-	-	4014_15:41191888-41191888 G>A_SAPRAFAWMMGDDVLYGALDCGRPD
13:33684218-33684218 C>T	1.0	4014	LUNG	-	-	ID=COSM374879;OCCURENCE=1(lung)	-	STARD13	NM_001243476,p.G912R|uc001uuw.3,p.G947R|uc001uuu.3,p.G939R|ENST00000336934,p.G947R|ENST00000255486,p.G939R|NM_178006,p.G947R|uc001uuv.3,p.G829R|NM_052851,p.G829R|ENST00000399365,p.G829R|uc001uux.3,p.G912R|NM_178007,p.G939R	protein_coding, processed_transcript	uc001uux.3	nonsynonymous SNV	exon16	c.G2734A	p.G912R	DNTDLAFKKVGDGNPLKLWKASVEV	DNTDLAFKKVGDRNPLKLWKASVEV	5.0	1.0	unscreened	-	4014_13:33684218-33684218 C>T_DNTDLAFKKVGDRNPLKLWKASVEV
13:58206798-58206798 A>T	0.0	4014	LUNG	-	-	-	-	PCDH17	ENST00000377918,p.R40W|uc010aec.1,p.R40W|NM_001040429,p.R40W|uc001vhq.1,p.R40W|ENST00000484979,p.R40W	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon1	c.A118T	p.R40W	EQGAGTVIGNIGRDARLQPGLPPAE	EQGAGTVIGNIGWDARLQPGLPPAE	6.0	3.0	unscreened	-	4014_13:58206798-58206798 A>T_EQGAGTVIGNIGWDARLQPGLPPAE
6:109850199-109850201 AAC>-	0.0	4014	LUNG	0.63	rs201441562	ID=COSM1487106;OCCURENCE=10(breast)	-	AK9	ENST00000355283,p.295_295del|uc011eat.1,p.295_295del	retained_intron, protein_coding	uc011eat.1	nonframeshift deletion	exon5	c.883_885del	p.295_295del	ERDKKRREVSSFVFFFKTGSHSVAQG	ERDKKRREVSSFFFFKTGSHSVAQG	5.0	1.0	unscreened	-	4014_6:109850199-109850201 AAC>-_ERDKKRREVSSFFFFKTGSHSVAQG
12:109017797-109017797 C>T	0.0	4014	LUNG	-	-	-	-	SELPLG	ENST00000550948,p.G96E|ENST00000388962,p.G96E|ENST00000228463,p.G112E|NM_001206609,p.G112E|uc001tni.3,p.G96E|uc010sxe.2,p.G112E|uc031qjj.1,p.G96E|uc001tnh.4,p.G96E|NM_003006,p.G96E	protein_coding	uc031qjj.1	nonsynonymous SNV	exon1	c.G287A	p.G96E	EPAARRSTGLDAGGAVTELTTELAN	EPAARRSTGLDAEGAVTELTTELAN	8.0	9.0	-	-	4014_12:109017797-109017797 C>T_EPAARRSTGLDAEGAVTELTTELAN
17:4876477-4876477 G>T	0.0	4014	LUNG	-	-	-	-	CAMTA2	ENST00000572543,p.T763N|uc002gah.2,p.T758N|ENST00000361571,p.T757N|NM_001171167,p.T781N|uc002gai.2,p.T760N|uc010ckv.1,p.T405N|NM_001171166,p.T760N|NM_001171168,p.T757N|ENST00000358183,p.T758N|ENST00000414043,p.T781N|NM_015099,p.T758N|ENST00000348066,p.T758N|uc010cku.2,p.T781N|uc002gag.2,p.T757N|ENST00000381311,p.T760N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ckv.1	nonsynonymous SNV	exon6	c.C1214A	p.T405N	EVDPLNVDHFSCTPLMWACALGHLE	EVDPLNVDHFSCNPLMWACALGHLE	8.0	3.0	unscreened	-	4014_17:4876477-4876477 G>T_EVDPLNVDHFSCNPLMWACALGHLE
2:48698247-48698247 A>T	0.0	4014	LUNG	-	-	-	-	PPP1R21	ENST00000449090,p.N307Y|uc002rwj.3,p.N307Y|uc010yok.2,p.N307Y|uc002rwl.3,p.N261Y|NM_152994,p.N307Y|uc002rwi.1,p.N307Y|NM_001193475,p.N307Y|uc002rwm.3,p.N307Y|ENST00000281394,p.N307Y|ENST00000294952,p.N307Y|uc002rwk.3,p.N307Y|NM_001135629,p.N307Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yok.2	nonsynonymous SNV	exon10	c.A919T	p.N307Y	PLNQKFSQYLHENASYVRPLEEGML	PLNQKFSQYLHEYASYVRPLEEGML	8.0	6.0	-	-	4014_2:48698247-48698247 A>T_PLNQKFSQYLHEYASYVRPLEEGML
3:188426068-188426068 G>T	1.0	4014	LUNG	-	-	-	1	LPP	NM_001167672,p.G229V|uc011bsg.2,p.G229V	protein_coding, processed_transcript	uc011bsg.2	nonsynonymous SNV	exon6	c.G686T	p.G229V	SRPTFNVQGGHSGQLGPSSVAPSFR	SRPTFNVQGGHSVQLGPSSVAPSFR	8.0	10.0	-	-	4014_3:188426068-188426068 G>T_SRPTFNVQGGHSVQLGPSSVAPSFR
17:33680452-33680452 C>T	0.0	4014	LUNG	-	-	-	-	SLFN11	ENST00000308377,p.A609T|NM_001104590,p.A609T|NM_152270,p.A609T|uc010ctp.3,p.A609T|NM_001104587,p.A609T|uc010ctq.3,p.A609T|ENST00000394566,p.A609T|uc002hjh.4,p.A609T|NM_001104588,p.A609T|uc002hjg.4,p.A609T|NM_001104589,p.A609T|uc010ctr.3,p.A609T	retained_intron, protein_coding	uc010ctr.3	nonsynonymous SNV	exon5	c.G1825A	p.A609T	VHGLPGSGKTIMAMKIMEKIRNVFH	VHGLPGSGKTIMTMKIMEKIRNVFH	7.0	4.0	-	-	4014_17:33680452-33680452 C>T_VHGLPGSGKTIMTMKIMEKIRNVFH
11:70277322-70277322 C>T	1.0	4014	LUNG	-	-	ID=COSM218349,COSM1158986,COSM1158985;OCCURENCE=3(pancreas),1(large_intestine)	-	CTTN	uc001opw.4,p.T364M|ENST00000538675,p.T85M|NM_001184740,p.T364M|uc001opv.4,p.T401M|uc001opu.3,p.T364M|NM_005231,p.T401M|ENST00000533931,p.T35M|ENST00000346329,p.T364M|ENST00000301843,p.T401M|ENST00000376561,p.T364M|ENST00000529736,p.T58M|NM_138565,p.T364M|uc010rqm.2,p.T85M|uc001opx.3,p.T85M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rqm.2	nonsynonymous SNV	exon6	c.C254T	p.T85M	RKLEEQARAKTQTPPVSPAPQPTEE	RKLEEQARAKTQMPPVSPAPQPTEE	10.0	1.0	-	-	4014_11:70277322-70277322 C>T_RKLEEQARAKTQMPPVSPAPQPTEE
5:38490382-38490382 G>C	1.0	4014	LUNG	-	-	-	1	LIFR	uc010ive.1,p.P693A|NM_001127671,p.P693A|uc003jli.2,p.P693A|ENST00000263409,p.P693A|ENST00000453190,p.P693A|NM_002310,p.P693A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ive.1	nonsynonymous SNV	exon15	c.C2077G	p.P693A	STETVIESDEFRPGIRYNFFLYGCR	STETVIESDEFRAGIRYNFFLYGCR	4.0	4.0	-	-	4014_5:38490382-38490382 G>C_STETVIESDEFRAGIRYNFFLYGCR
16:88110217-88110217 A>T	1.0	4014	LUNG	-	-	-	-	BANP	NM_001173540,p.T482S|NM_017869,p.T454S|ENST00000393207,p.T504S|ENST00000393208,p.T476S|ENST00000286122,p.T504S|uc021tml.1,p.T493S|uc002fks.4,p.T451S|uc002fkp.3,p.T476S|NM_001173542,p.T493S|NM_001173539,p.T490S|uc010vov.2,p.T482S|NM_001173541,p.T451S|uc010vow.2,p.T490S|NM_079837,p.T476S|ENST00000479780,p.T451S|uc002fkr.3,p.T504S|ENST00000355022,p.T454S|uc002fkq.3,p.T454S|NM_001173543,p.T504S|ENST00000538234,p.T493S|ENST00000355163,p.T482S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tml.1	nonsynonymous SNV	exon13	c.A1477T	p.T493S	TAGAQTAEALQPTLQPEMQLEHGAI	TAGAQTAEALQPSLQPEMQLEHGAI	8.0	3.0	unscreened	-	4014_16:88110217-88110217 A>T_TAGAQTAEALQPSLQPEMQLEHGAI
2:69723159-69723159 C>T	0.0	4014	LUNG	-	-	-	-	AAK1	NM_014911,p.V775M|uc002sfp.2,p.V775M|uc010yqm.1,p.V776M|ENST00000406297,p.V775M|uc010fdk.2,p.V775M|ENST00000409085,p.V775M	retained_intron, protein_coding, processed_transcript	uc010yqm.1	nonsynonymous SNV	exon16	c.G2326A	p.V776M	GQTVDSGLPLLSVSDPFIPLQVPDA	GQTVDSGLPLLSMSDPFIPLQVPDA	7.0	6.0	-	-	4014_2:69723159-69723159 C>T_GQTVDSGLPLLSMSDPFIPLQVPDA
21:45651220-45651220 C>A	0.0	4014	LUNG	-	-	-	-	ICOSLG	uc002zee.3,p.V269L|ENST00000400379,p.V269L|uc010gpp.1,p.V269L|ENST00000407780,p.V269L|uc011afc.2,p.V179L|NM_015259,p.V269L|ENST00000344330,p.V269L|ENST00000400377,p.V152L|NM_001283051,p.V152L|uc002zef.3,p.V152L|NM_001283052,p.V184L|NM_001283050,p.V269L	protein_coding	uc011afc.2	nonsynonymous SNV	exon5	c.G535T	p.V179L	WSILAVLCLLVVVAVAIGWVCRDRC	WSILAVLCLLVVLAVAIGWVCRDRC	6.0	4.0	-	-	4014_21:45651220-45651220 C>A_WSILAVLCLLVVLAVAIGWVCRDRC
7:150706508-150706508 C>A	0.0	4014	LUNG	-	-	ID=COSM3698269;OCCURENCE=1(large_intestine)	-	NOS3	NM_000603,p.L783M|ENST00000297494,p.L783M|uc003wif.3,p.L783M|uc011kuy.2,p.L577M|ENST00000461406,p.L577M	retained_intron, protein_coding, processed_transcript	uc011kuy.2	nonsynonymous SNV	exon17	c.C1729A	p.L577M	SSKSTRATILVRLDTGGQEGLQYQP	SSKSTRATILVRMDTGGQEGLQYQP	6.0	4.0	unscreened	-	4014_7:150706508-150706508 C>A_SSKSTRATILVRMDTGGQEGLQYQP
16:85954761-85954761 G>T	0.0	4014	LUNG	-	-	-	-	IRF8	ENST00000569607,p.C181F|ENST00000268638,p.C385F|uc002fjh.3,p.C385F|NM_002163,p.C385F|ENST00000562492,p.C181F	retained_intron, protein_coding	uc002fjh.3	nonsynonymous SNV	exon9	c.G1154T	p.C385F	YVRQLAEEAGKSCGAGSVMQAPEEP	YVRQLAEEAGKSFGAGSVMQAPEEP	7.0	2.0	unscreened	-	4014_16:85954761-85954761 G>T_YVRQLAEEAGKSFGAGSVMQAPEEP
15:48429092-48429092 T>C	1.0	4014	LUNG	-	-	-	-	SLC24A5	NM_205850,p.I268T|ENST00000449382,p.I208T|ENST00000341459,p.I268T|uc010bel.3,p.I208T|uc001zwe.3,p.I268T	retained_intron, protein_coding	uc010bel.3	nonsynonymous SNV	exon5	c.T623C	p.I208T	PFIRRQSRTDSGIFYEDSGYSQLSI	PFIRRQSRTDSGTFYEDSGYSQLSI	2.0	7.0	-	-	4014_15:48429092-48429092 T>C_PFIRRQSRTDSGTFYEDSGYSQLSI
3:11389504-11389504 G>T	0.0	4014	LUNG	-	-	-	-	ATG7	uc003bwc.3,p.G427C|ENST00000354956,p.G427C|NM_001136031,p.G427C|ENST00000446450,p.G388C|uc003bwd.3,p.G427C|ENST00000354449,p.G427C|NM_001144912,p.G388C|NM_006395,p.G427C|uc011aum.2,p.G388C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aum.2	nonsynonymous SNV	exon11	c.G1162T	p.G388C	LAAADRLQKIFPGVNARGFNMSIPM	LAAADRLQKIFPCVNARGFNMSIPM	8.0	1.0	unscreened	-	4014_3:11389504-11389504 G>T_LAAADRLQKIFPCVNARGFNMSIPM
5:140857986-140857986 G>T	0.0	4014	LUNG	-	-	-	-	PCDHGC3	ENST00000308177,p.R768L|uc003lku.1,p.R768L|NM_032402,p.R768L|uc003lkv.2,p.R768L|NM_002588,p.R768L	protein_coding	uc003lkv.2	nonsynonymous SNV	exon1	c.G2303T	p.R768L	LYHQVYLTTDSRRSDPLLKKPGAAS	LYHQVYLTTDSRLSDPLLKKPGAAS	5.0	6.0	-	-	4014_5:140857986-140857986 G>T_LYHQVYLTTDSRLSDPLLKKPGAAS
2:16743387-16743387 C>G	0.0	4014	LUNG	-	-	-	-	FAM49A	uc002rck.2,p.L107F|NM_030797,p.L107F|uc010exm.2,p.L107F|ENST00000355549,p.L107F|ENST00000406434,p.L107F|ENST00000381323,p.L107F	retained_intron, protein_coding	uc010exm.2	nonsynonymous SNV	exon5	c.G321C	p.L107F	FSIRLEKALQSLLESLTCPPYTPTQ	FSIRLEKALQSLFESLTCPPYTPTQ	6.0	4.0	-	-	4014_2:16743387-16743387 C>G_FSIRLEKALQSLFESLTCPPYTPTQ
1:97217009-97217009 G>A	1.0	4014	LUNG	-	-	-	-	PTBP2	NM_001300987,p.S34N|ENST00000394184,p.S34N|uc010otz.1,p.S34N	protein_coding, processed_transcript	uc010otz.1	nonsynonymous SNV	exon4	c.G101A	p.S34N	VNNRGSDELLSGSVLSSPNSNMSSM	VNNRGSDELLSGNVLSSPNSNMSSM	7.0	8.0	-	-	4014_1:97217009-97217009 G>A_VNNRGSDELLSGNVLSSPNSNMSSM
1:97217009-97217009 G>A	1.0	4014	LUNG	-	-	-	-	PTBP2	ENST00000370197,p.S23N|NM_001300989,p.S23N|NM_021190,p.S23N|ENST00000426398,p.S23N|uc001drm.2,p.S23N|NM_001300986,p.S31N|uc001drr.3,p.S23N|NM_001300985,p.S23N|ENST00000370198,p.S23N|uc001dro.2,p.S23N|uc001drn.2,p.S23N|NM_001300988,p.S23N|uc001drq.3,p.S23N|ENST00000236228,p.S23N	protein_coding, processed_transcript	uc001drr.3	nonsynonymous SNV	exon3	c.G68A	p.S23N	GVKRGSDELLSGSVLSSPNSNMSSM	GVKRGSDELLSGNVLSSPNSNMSSM	7.0	8.0	-	-	4014_1:97217009-97217009 G>A_GVKRGSDELLSGNVLSSPNSNMSSM
2:68273536-68273536 G>A	1.0	4014	LUNG	-	-	-	-	C1D	uc002sea.4,p.P49S|ENST00000410067,p.P49S|ENST00000407324,p.P88S|uc010fdc.3,p.P49S|ENST00000355848,p.P49S|NM_001190263,p.P49S|uc002sec.3,p.P49S|uc021viu.1,p.P49S|uc002seb.3,p.P49S|NM_001190265,p.P49S|ENST00000409302,p.P49S|NM_173177,p.P49S|NM_006333,p.P49S	retained_intron, protein_coding, processed_transcript	uc021viu.1	nonsynonymous SNV	exon4	c.C145T	p.P49S	SVSRNELLQKLDPLEQAKVDLVSAY	SVSRNELLQKLDSLEQAKVDLVSAY	8.0	5.0	-	-	4014_2:68273536-68273536 G>A_SVSRNELLQKLDSLEQAKVDLVSAY
1:7724267-7724267 G>T	0.0	4014	LUNG	-	-	-	1	CAMTA1	ENST00000303635,p.A554S|NM_015215,p.A554S|uc001aoi.3,p.A554S|ENST00000439411,p.A554S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001aoi.3	nonsynonymous SNV	exon9	c.G1660T	p.A554S	QMAKEAYSSSAAAVAASSLTLTAGS	QMAKEAYSSSAASVAASSLTLTAGS	10.0	7.0	unscreened	-	4014_1:7724267-7724267 G>T_QMAKEAYSSSAASVAASSLTLTAGS
14:77576233-77576233 A>-	0.0	4014	LUNG	-	-	-	-	CIPC	ENST00000554658,p.E72fs|NM_033426,p.E72fs|ENST00000557115,p.E72fs|ENST00000555611,p.E72fs|uc001xtd.3,p.E72fs|ENST00000555200,p.E72fs|ENST00000361786,p.E72fs|ENST00000554447,p.E72fs	retained_intron, protein_coding	uc001xtd.3	frameshift deletion	exon3	c.215delA	p.E72fs	SEDMLSALGWSREDRPRQNSKTAKNA	SEDMLSALGWSRETGRGRTPKLQRMPSLPCLPWSS	7.0	8.0	-	-	4014_14:77576233-77576233 A>-_SEDMLSALGWSRETGRGRTPKLQRMPSLPCLPWSS
2:234749975-234749975 C>A	1.0	4014	LUNG	-	-	-	-	HJURP	uc010zne.2,p.R392M|NM_018410,p.R484M|NM_001282962,p.R430M|ENST00000441687,p.R399M|ENST00000414924,p.R399M|ENST00000411486,p.R484M|NM_001282963,p.R399M|ENST00000432087,p.R430M|uc002vvg.3,p.R484M|uc010znd.2,p.R423M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zne.2	nonsynonymous SNV	exon5	c.G1175T	p.R392M	ASPGGLQGLETRRLSLPSSKAKAKS	ASPGGLQGLETRMLSLPSSKAKAKS	8.0	6.0	-	-	4014_2:234749975-234749975 C>A_ASPGGLQGLETRMLSLPSSKAKAKS
13:38153213-38153213 C>T	0.0	4014	LUNG	-	-	-	-	POSTN	NM_001286665,p.D613N|ENST00000379742,p.D613N|uc010tet.2,p.D141N|uc001uwo.4,p.D613N|ENST00000541179,p.D613N|NM_001135936,p.D613N|uc010tev.1,p.D613N|ENST00000379743,p.D613N|uc010teu.1,p.D613N|uc001uwp.4,p.D613N|ENST00000541481,p.D613N|ENST00000379747,p.D613N|NM_006475,p.D613N|uc001uwq.3,p.D613N|uc001uwr.3,p.D613N|uc010tew.1,p.D613N|NM_001286666,p.D613N|NM_001135934,p.D613N|NM_001135935,p.D613N|ENST00000379749,p.D613N|NM_001286667,p.D613N	protein_coding, processed_transcript	uc010tew.1	nonsynonymous SNV	exon14	c.G1837A	p.D613N	TLLVNELKSKESDIMTTNGVIHVVD	TLLVNELKSKESNIMTTNGVIHVVD	10.0	2.0	unscreened	-	4014_13:38153213-38153213 C>T_TLLVNELKSKESNIMTTNGVIHVVD
10:125805501-125805501 C>A	1.0	4014	LUNG	-	-	-	-	CHST15	NM_001270764,p.K76N|ENST00000346248,p.K76N|ENST00000435907,p.K76N|NM_015892,p.K76N|NM_014863,p.K76N|uc001lhn.4,p.K76N|uc001lho.4,p.K76N|uc010que.3,p.K76N|ENST00000421115,p.K76N|uc001lhm.4,p.K76N|NM_001270765,p.K76N	protein_coding, processed_transcript	uc010que.3	nonsynonymous SNV	exon2	c.G228T	p.K76N	GNENWGGFLRFKKGKRCSLVFGLII	GNENWGGFLRFKNGKRCSLVFGLII	8.0	3.0	-	-	4014_10:125805501-125805501 C>A_GNENWGGFLRFKNGKRCSLVFGLII
18:43820143-43820143 T>A	0.0	4014	LUNG	-	-	-	-	C18orf25	uc002lbw.3,p.N296K|NM_145055,p.N296K|ENST00000282059,p.N296K	protein_coding	uc002lbw.3	nonsynonymous SNV	exon3	c.T888A	p.N296K	ATWRTSGLLEELNAEAGHLDPGFLA	ATWRTSGLLEELKAEAGHLDPGFLA	8.0	1.0	unscreened	-	4014_18:43820143-43820143 T>A_ATWRTSGLLEELKAEAGHLDPGFLA
7:7413057-7413057 C>A	1.0	4014	LUNG	-	-	-	-	COL28A1	uc011jxe.1,p.R510L|NM_001037763,p.R827L|ENST00000399429,p.R827L|uc003src.1,p.R827L	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxe.1	nonsynonymous SNV	exon33	c.G1529T	p.R510L	QIIKNFVKTMADRVALDLATARIGI	QIIKNFVKTMADLVALDLATARIGI	4.0	5.0	-	-	4014_7:7413057-7413057 C>A_QIIKNFVKTMADLVALDLATARIGI
20:32251567-32251567 C>A	1.0	4014	LUNG	-	-	-	-	C20orf144	ENST00000375222,p.P119Q|NM_080825,p.P119Q|uc002wzs.2,p.P119Q	protein_coding	uc002wzs.2	nonsynonymous SNV	exon2	c.C356A	p.P119Q	PEEGGARAALSWPRLLSRFRSPGKA	PEEGGARAALSWQRLLSRFRSPGKA	1.0	9.0	-	-	4014_20:32251567-32251567 C>A_PEEGGARAALSWQRLLSRFRSPGKA
9:120470964-120470964 A>G	0.0	4014	LUNG	-	-	-	-	TLR4	ENST00000355622,p.S73G|uc004bjz.4,p.S73G|uc004bka.4,p.S33G|NM_138554,p.S73G|NM_003266,p.S33G|ENST00000394487,p.S33G	protein_coding, processed_transcript	uc004bka.4	nonsynonymous SNV	exon3	c.A97G	p.S33G	LSFNPLRHLGSYSFFSFPELQVLDL	LSFNPLRHLGSYGFFSFPELQVLDL	6.0	3.0	unscreened	-	4014_9:120470964-120470964 A>G_LSFNPLRHLGSYGFFSFPELQVLDL
17:57287924-57287924 G>T	0.0	4014	LUNG	-	-	-	-	SMG8	NM_018149,p.S171I|ENST00000578922,p.S171I|ENST00000543872,p.S171I|uc002ixi.3,p.S171I|ENST00000300917,p.S171I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ixi.3	nonsynonymous SNV	exon1	c.G512T	p.S171I	NSQLLRACRALQSGEAGGGLSLPHA	NSQLLRACRALQIGEAGGGLSLPHA	7.0	3.0	unscreened	-	4014_17:57287924-57287924 G>T_NSQLLRACRALQIGEAGGGLSLPHA
11:36483980-36483980 G>T	0.0	4014	LUNG	-	-	-	-	PRR5L	uc001mwp.3,p.M267I|NM_024841,p.M267I|ENST00000530639,p.M267I|ENST00000378867,p.M267I|NM_001160167,p.M267I|NM_001160168,p.M139I|uc001mwo.4,p.M267I|uc009ykk.3,p.M139I|ENST00000311599,p.M194I	protein_coding, processed_transcript	uc009ykk.3	nonsynonymous SNV	exon6	c.G417T	p.M139I	SPITAVSRPLNEMVLTPLTEQEGEA	SPITAVSRPLNEIVLTPLTEQEGEA	6.0	9.0	-	-	4014_11:36483980-36483980 G>T_SPITAVSRPLNEIVLTPLTEQEGEA
20:476386-476386 T>A	1.0	4014	LUNG	-	-	-	-	CSNK2A1	ENST00000400227,p.M163L|NM_001895,p.M163L|uc002wdw.1,p.M163L|ENST00000349736,p.M163L|ENST00000400217,p.M27L|uc002wdy.1,p.M27L|uc002wdx.1,p.M163L|NM_177559,p.M163L|ENST00000217244,p.M163L|NM_177560,p.M27L	protein_coding, processed_transcript	uc002wdy.1	nonsynonymous SNV	exon6	c.A79T	p.M27L	GIMHRDVKPHNVMIDHEHRKLRLID	GIMHRDVKPHNVLIDHEHRKLRLID	9.0	8.0	-	-	4014_20:476386-476386 T>A_GIMHRDVKPHNVLIDHEHRKLRLID
7:100137025-100137025 A>T	0.0	4014	LUNG	-	-	-	-	AGFG2	ENST00000262935,p.K19M|ENST00000300176,p.K19M|ENST00000430857,p.K19M|uc003uvf.3,p.K19M|NM_006076,p.K19M|uc003uvg.1,p.K19M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uvg.1	nonsynonymous SNV	exon1	c.A56T	p.K19M	KGPGPGGGVSGGKAEAEAASEVWCR	KGPGPGGGVSGGMAEAEAASEVWCR	6.0	7.0	-	-	4014_7:100137025-100137025 A>T_KGPGPGGGVSGGMAEAEAASEVWCR
X:12627868-12627868 G>T	0.0	4014	LUNG	-	-	-	-	FRMPD4	NM_014728,p.D63Y|ENST00000380682,p.D63Y|uc004cuz.2,p.D63Y|uc011mij.2,p.D55Y	protein_coding	uc011mij.2	nonsynonymous SNV	exon4	c.G163T	p.D55Y	FINHMTQAIPFDDPRLESCQIIPPA	FINHMTQAIPFDYPRLESCQIIPPA	1.0	9.0	-	-	4014_X:12627868-12627868 G>T_FINHMTQAIPFDYPRLESCQIIPPA
5:142526805-142526805 G>T	1.0	4014	LUNG	-	-	-	1	ARHGAP26	NM_015071,p.R616M|uc003lmt.3,p.R616M|ENST00000424007,p.R61M|ENST00000419676,p.R62M|NM_001135608,p.R616M|uc011dbj.2,p.R616M|ENST00000378004,p.R616M|uc003lmw.3,p.R616M|ENST00000274498,p.R616M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dbj.2	nonsynonymous SNV	exon20	c.G1847T	p.R616M	FHTVQSTEKQEQRNSIINSSLESVS	FHTVQSTEKQEQMNSIINSSLESVS	7.0	2.0	-	-	4014_5:142526805-142526805 G>T_FHTVQSTEKQEQMNSIINSSLESVS
X:153171417-153171417 G>A	0.0	4014	LUNG	-	-	-	-	AVPR2	NM_001146151,p.G153R|ENST00000358927,p.G153R|NM_000054,p.G153R|ENST00000337474,p.G153R|uc004fjh.4,p.G153R|ENST00000430697,p.G153R|uc004fji.3,p.G153R|ENST00000370049,p.G153R	protein_coding, nonsense_mediated_decay	uc004fji.3	nonsynonymous SNV	exon2	c.G457A	p.G153R	ICRPMLAYRHGSGAHWNRPVLVAWA	ICRPMLAYRHGSRAHWNRPVLVAWA	2.0	10.0	-	-	4014_X:153171417-153171417 G>A_ICRPMLAYRHGSRAHWNRPVLVAWA
11:74907612-74907612 C>A	0.0	4014	LUNG	-	-	-	-	SLCO2B1	ENST00000428359,p.P474Q|ENST00000289575,p.P496Q|uc001owb.3,p.P496Q|uc010rrq.2,p.P241Q|NM_007256,p.P496Q|uc001owc.3,p.P269Q|ENST00000532236,p.P380Q|NM_001145212,p.P352Q|ENST00000341411,p.P269Q|ENST00000531756,p.P241Q|uc010rrr.2,p.P352Q|uc010rrs.2,p.P380Q|NM_001145211,p.P474Q|uc001owd.3,p.P474Q|ENST00000525650,p.P352Q|ENST00000454962,p.P269Q	retained_intron, protein_coding, processed_transcript, TEC	uc010rrs.2	nonsynonymous SNV	exon8	c.C1139A	p.P380Q	ELSPSCMEACSCPLDGFNPVCDPST	ELSPSCMEACSCQLDGFNPVCDPST	8.0	2.0	unscreened	-	4014_11:74907612-74907612 C>A_ELSPSCMEACSCQLDGFNPVCDPST
1:67292660-67292660 C>A	0.0	4014	LUNG	-	-	-	-	WDR78	ENST00000371026,p.G728C|uc001dcx.3,p.G728C|ENST00000431318,p.G441C|NM_024763,p.G728C|uc009waw.3,p.G441C|ENST00000464352,p.G461C	protein_coding, processed_transcript, nonsense_mediated_decay	uc009waw.3	nonsynonymous SNV	exon10	c.G1321T	p.G441C	CHDVFLSCSADWGVIIWQQENVKPS	CHDVFLSCSADWCVIIWQQENVKPS	4.0	8.0	unscreened	-	4014_1:67292660-67292660 C>A_CHDVFLSCSADWCVIIWQQENVKPS
X:67944215-67944215 G>T	0.0	4014	LUNG	-	-	-	-	STARD8	NM_001142503,p.R1088L|NM_001142504,p.R1008L|uc004dxb.3,p.R1088L|NM_014725,p.R1008L|ENST00000252336,p.R1008L|uc004dxc.4,p.R1008L|uc004dxa.3,p.R1008L|ENST00000374599,p.R1088L|ENST00000374597,p.R1008L	protein_coding, processed_transcript, nonsense_mediated_decay	uc004dxc.4	nonsynonymous SNV	exon14	c.G3023T	p.R1008L	FGHLCAMEVAKIRDSFPTLQAAGPE	FGHLCAMEVAKILDSFPTLQAAGPE	5.0	10.0	-	-	4014_X:67944215-67944215 G>T_FGHLCAMEVAKILDSFPTLQAAGPE
18:5489143-5489143 C>A	0.0	4014	LUNG	-	-	-	-	EPB41L3	ENST00000580989,p.D14Y|NM_012307,p.D14Y|ENST00000540638,p.D14Y|ENST00000582703,p.D14Y|ENST00000580179,p.D14Y|ENST00000584651,p.D14Y|uc002kmt.1,p.D14Y|ENST00000584015,p.D14Y|ENST00000578503,p.D14Y|ENST00000585142,p.D14Y|ENST00000581833,p.D14Y|uc010dks.1,p.D36Y|NM_001281533,p.D14Y|ENST00000582592,p.D36Y|uc010wzh.1,p.D14Y|ENST00000544123,p.D14Y|ENST00000342933,p.D14Y|ENST00000580308,p.D14Y|NM_001281534,p.D14Y|ENST00000400111,p.D14Y|ENST00000341928,p.D14Y|uc002kmu.1,p.D14Y	retained_intron, protein_coding, processed_transcript	uc010wzh.1	nonsynonymous SNV	exon2	c.G40T	p.D14Y	TTESGSDSESKPDQEAEPQEAAGAQ	TTESGSDSESKPYQEAEPQEAAGAQ	8.0	6.0	-	-	4014_18:5489143-5489143 C>A_TTESGSDSESKPYQEAEPQEAAGAQ
19:31769561-31769561 C>A	0.0	4014	LUNG	-	-	ID=COSM249654,COSM249653;OCCURENCE=2(kidney)	-	TSHZ3	ENST00000240587,p.A380S|uc002nsy.4,p.A380S|NM_020856,p.A380S	protein_coding, processed_transcript	uc002nsy.4	nonsynonymous SNV	exon2	c.G1138T	p.A380S	HQNGASYAWHFEARKSQILKCMECG	HQNGASYAWHFESRKSQILKCMECG	5.0	7.0	-	-	4014_19:31769561-31769561 C>A_HQNGASYAWHFESRKSQILKCMECG
1:156642773-156642773 C>A	0.0	4014	LUNG	-	-	-	-	NES	NM_006617,p.A403S|uc001fpq.3,p.A403S|ENST00000368223,p.A403S	protein_coding	uc001fpq.3	nonsynonymous SNV	exon4	c.G1207T	p.A403S	PPTPQAPSPAVDAEIRAQDAPLSLL	PPTPQAPSPAVDSEIRAQDAPLSLL	7.0	9.0	-	-	4014_1:156642773-156642773 C>A_PPTPQAPSPAVDSEIRAQDAPLSLL
4:49040171-49040171 C>A	1.0	4014	LUNG	-	-	-	-	CWH43	ENST00000226432,p.Q593K|ENST00000513409,p.Q566K|NM_001286791,p.Q566K|NM_025087,p.Q593K|uc003gyv.3,p.Q593K|uc011bzl.2,p.Q566K	retained_intron, protein_coding, nonsense_mediated_decay	uc011bzl.2	nonsynonymous SNV	exon13	c.C1696A	p.Q566K	YITSAPGSRDYLQLTEHGNVKDIDS	YITSAPGSRDYLKLTEHGNVKDIDS	3.0	5.0	-	-	4014_4:49040171-49040171 C>A_YITSAPGSRDYLKLTEHGNVKDIDS
11:55703114-55703114 C>A	0.0	4014	LUNG	-	-	-	-	OR5I1	ENST00000301532,p.G255W|uc010ris.2,p.G255W|NM_006637,p.G255W	protein_coding	uc010ris.2	nonsynonymous SNV	exon1	c.G763T	p.G255W	CASHLTSVTIYQGTLLFIYSRPSYL	CASHLTSVTIYQWTLLFIYSRPSYL	1.0	3.0	unscreened	-	4014_11:55703114-55703114 C>A_CASHLTSVTIYQWTLLFIYSRPSYL
15:26828517-26828517 G>T	1.0	4014	LUNG	-	-	-	-	GABRB3	NM_001278631,p.P84H|NM_001191320,p.P84H|uc001zba.3,p.P169H|uc021sgh.1,p.P84H|uc001zaz.3,p.P169H|NM_001191321,p.P98H|NM_000814,p.P169H|ENST00000555094,p.P84H|ENST00000541819,p.P225H|ENST00000400188,p.P98H|ENST00000311550,p.P169H|uc001zbb.3,p.P225H|ENST00000299267,p.P169H|uc021sgg.1,p.P98H|ENST00000545868,p.P84H|NM_021912,p.P169H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc021sgh.1	nonsynonymous SNV	exon3	c.C251A	p.P84H	TTAACMMDLRRYPLDEQNCTLEIES	TTAACMMDLRRYHLDEQNCTLEIES	6.0	3.0	-	-	4014_15:26828517-26828517 G>T_TTAACMMDLRRYHLDEQNCTLEIES
X:19410586-19410586 G>T	0.0	4014	LUNG	-	-	-	-	MAP3K15	uc022btq.1,p.L734I|uc004czj.2,p.L169I|uc004czk.2,p.L209I|ENST00000338883,p.L734I|ENST00000469203,p.L566I|NM_001001671,p.L734I|ENST00000359173,p.L169I	retained_intron, protein_coding, processed_transcript	uc022btq.1	nonsynonymous SNV	exon17	c.C2200A	p.L734I	IKIFMEQVPGGSLSALLRSKWGPMK	IKIFMEQVPGGSISALLRSKWGPMK	3.0	10.0	-	-	4014_X:19410586-19410586 G>T_IKIFMEQVPGGSISALLRSKWGPMK
1:91779050-91779050 C>A	0.0	4014	LUNG	-	-	-	-	HFM1	ENST00000294696,p.G315W|uc010osv.1,p.G767W|uc001doa.4,p.G1083W|ENST00000370425,p.G1083W|ENST00000370424,p.G762W|uc001dob.4,p.G271W|NM_001017975,p.G1083W|uc010osu.2,p.G762W	retained_intron, protein_coding, processed_transcript	uc010osv.1	nonsynonymous SNV	exon24	c.G2299T	p.G767W	DLSINLISSEFVGLDIQQKLTVFYL	DLSINLISSEFVWLDIQQKLTVFYL	2.0	7.0	-	-	4014_1:91779050-91779050 C>A_DLSINLISSEFVWLDIQQKLTVFYL
16:67761296-67761296 C>A	0.0	4014	LUNG	-	-	-	-	RANBP10	ENST00000411657,p.V469F|ENST00000317506,p.V556F|uc002eud.3,p.V556F|uc010vju.2,p.V530F|ENST00000536251,p.V327F|uc010ceo.3,p.V327F|uc010vjv.2,p.V469F|NM_020850,p.V556F|ENST00000448631,p.V530F|ENST00000602677,p.V586F	protein_coding	uc010vjv.2	nonsynonymous SNV	exon12	c.G1405T	p.V469F	SLLAYSDPWSCPVGQQLDPIQREPV	SLLAYSDPWSCPFGQQLDPIQREPV	6.0	3.0	unscreened	-	4014_16:67761296-67761296 C>A_SLLAYSDPWSCPFGQQLDPIQREPV
5:32091134-32091134 G>T	0.0	4014	LUNG	-	-	-	-	PDZD2	ENST00000282493,p.G2527V|uc003jhl.3,p.G2527V|NM_178140,p.G2527V|uc003jhm.3,p.G2527V|ENST00000438447,p.G2527V	retained_intron, protein_coding, processed_transcript	uc003jhm.3	nonsynonymous SNV	exon19	c.G7580T	p.G2527V	EITPRRSPGPPAGGVSCPEKGGNRA	EITPRRSPGPPAVGVSCPEKGGNRA	6.0	2.0	unscreened	-	4014_5:32091134-32091134 G>T_EITPRRSPGPPAVGVSCPEKGGNRA
5:178418966-178418966 A>T	0.0	4014	LUNG	-	-	-	-	GRM6	ENST00000231188,p.V208E|uc003mjr.3,p.V208E|NM_000843,p.V208E|ENST00000517717,p.V208E	retained_intron, protein_coding, processed_transcript	uc003mjr.3	nonsynonymous SNV	exon2	c.T623A	p.V208E	PDSYQAQAMVDIVRALGWNYVSTLA	PDSYQAQAMVDIERALGWNYVSTLA	1.0	8.0	-	-	4014_5:178418966-178418966 A>T_PDSYQAQAMVDIERALGWNYVSTLA
19:44512944-44512944 G>T	0.0	4014	LUNG	-	-	-	-	ZNF230	ENST00000585568,p.E6D|uc002oyb.1,p.E6D|ENST00000585491,p.E6D|ENST00000585632,p.E6D|NM_006300,p.E6D|ENST00000429154,p.E6D	retained_intron, protein_coding, nonsense_mediated_decay	uc002oyb.1	nonsynonymous SNV	exon3	c.G18T	p.E6D	MTTFKEAVTFKDVAVFFT	MTTFKDAVTFKDVAVFFT	5.0	3.0	unscreened	-	4014_19:44512944-44512944 G>T_MTTFKDAVTFKDVAVFFT
9:101829349-101829349 G>T	0.0	4014	LUNG	-	-	-	-	COL15A1	NM_001855,p.K1279N|ENST00000375001,p.K1279N|uc004azb.2,p.K1279N	retained_intron, protein_coding, processed_transcript	uc004azb.2	nonsynonymous SNV	exon40	c.G3837T	p.K1279N	KAERYSLPIVNLKGQVLFNNWDSIF	KAERYSLPIVNLNGQVLFNNWDSIF	8.0	6.0	-	-	4014_9:101829349-101829349 G>T_KAERYSLPIVNLNGQVLFNNWDSIF
6:65098723-65098723 C>G	1.0	4014	LUNG	-	-	-	-	EYS	uc011dxt.1,p.D892H|ENST00000370616,p.D1980H|NM_001292009,p.D1980H|ENST00000370621,p.D1980H|ENST00000503581,p.D1980H|NM_001142800,p.D1980H|uc011dxu.1,p.D1980H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxu.1	nonsynonymous SNV	exon29	c.G5938C	p.D1980H	GQKYTLLIRQELDPCNAELTILGRN	GQKYTLLIRQELHPCNAELTILGRN	4.0	9.0	-	-	4014_6:65098723-65098723 C>G_GQKYTLLIRQELHPCNAELTILGRN
11:72945914-72945914 C>G	1.0	4014	LUNG	-	-	-	-	P2RY2	NM_176071,p.P237R|ENST00000311131,p.P237R|uc001otj.4,p.P237R|NM_176072,p.P237R|uc001otl.4,p.P237R|NM_002564,p.P237R|ENST00000393597,p.P237R|uc001otk.4,p.P237R|ENST00000393596,p.P237R|uc021qna.1,p.P237R	protein_coding	uc021qna.1	nonsynonymous SNV	exon1	c.C710G	p.P237R	LLKPAYGTSGGLPRAKRKSVRTIAV	LLKPAYGTSGGLRRAKRKSVRTIAV	6.0	7.0	-	-	4014_11:72945914-72945914 C>G_LLKPAYGTSGGLRRAKRKSVRTIAV
15:73541421-73541421 C>A	1.0	4014	LUNG	-	-	-	-	NEO1	NM_001172623,p.P543T|NM_001172624,p.P543T|ENST00000560328,p.P239T|uc002avm.4,p.P543T|ENST00000261908,p.P543T|uc002avn.4,p.P563T|NM_002499,p.P543T|ENST00000339362,p.P543T|ENST00000558964,p.P543T|ENST00000560262,p.P543T|uc010ukx.2,p.P543T|uc010uky.2,p.P543T	retained_intron, protein_coding, processed_transcript	uc010uky.2	nonsynonymous SNV	exon10	c.C1627A	p.P543T	ETQPEVQLPGPAPNLRAYAASPTSI	ETQPEVQLPGPATNLRAYAASPTSI	8.0	6.0	-	-	4014_15:73541421-73541421 C>A_ETQPEVQLPGPATNLRAYAASPTSI
3:185797721-185797721 G>-	0.0	4014	LUNG	-	-	-	1	ETV5	ENST00000537818,p.H221fs|NM_004454,p.H179fs|uc003fpz.3,p.H179fs|ENST00000306376,p.H179fs|uc003fpy.3,p.H221fs|ENST00000434744,p.H179fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fpz.3	frameshift deletion	exon7	c.535delC	p.H179fs	GPVQGVGPAPAPHSLPEPGPQQQTFA	GPVQGVGPAPAPIRFQSLDHSSKHLRSPDHHISPCRCQR	7.0	10.0	-	-	4014_3:185797721-185797721 G>-_GPVQGVGPAPAPIRFQSLDHSSKHLRSPDHHISPCRCQR
2:168104263-168104263 G>T	0.0	4014	LUNG	-	-	-	-	XIRP2	uc002udy.3,p.V1946F|NM_152381,p.V2121F|uc002udx.3,p.V2121F|ENST00000409195,p.V2121F|ENST00000409273,p.V1899F|ENST00000295237,p.V2121F|uc010fpq.3,p.V1899F|NM_001199144,p.V1899F	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G5695T	p.V1899F	DVFNSIQSAGKTVGKQQTYELRNDH	DVFNSIQSAGKTFGKQQTYELRNDH	1.0	4.0	-	-	4014_2:168104263-168104263 G>T_DVFNSIQSAGKTFGKQQTYELRNDH
11:11470415-11470415 C>A	0.0	4014	LUNG	-	-	-	-	GALNT18	uc001mjo.2,p.G102C|ENST00000227756,p.G102C|NM_198516,p.G102C	protein_coding, processed_transcript	uc001mjo.2	nonsynonymous SNV	exon2	c.G304T	p.G102C	EPFTDSSLFAHWGQELSPEGRRVAL	EPFTDSSLFAHWCQELSPEGRRVAL	6.0	8.0	-	-	4014_11:11470415-11470415 C>A_EPFTDSSLFAHWCQELSPEGRRVAL
11:103814261-103814261 A>T	0.0	4014	LUNG	-	-	-	-	PDGFD	ENST00000302251,p.S225T|uc001phq.3,p.S231T|NM_025208,p.S231T|ENST00000393158,p.S231T|uc001php.3,p.S225T|NM_033135,p.S225T	protein_coding	uc001phq.3	nonsynonymous SNV	exon5	c.T691A	p.S231T	TVEDLLKYFNPESWQEDLENMYLDT	TVEDLLKYFNPETWQEDLENMYLDT	5.0	8.0	-	-	4014_11:103814261-103814261 A>T_TVEDLLKYFNPETWQEDLENMYLDT
11:33569420-33569420 G>T	0.0	4014	LUNG	-	-	-	-	KIAA1549L	ENST00000389726,p.A875S|ENST00000265654,p.A875S|uc021qfs.1,p.A869S|ENST00000321505,p.A869S|uc001mun.1,p.A875S|NM_012194,p.A869S	protein_coding	uc021qfs.1	nonsynonymous SNV	exon3	c.G2605T	p.A869S	ALRKAFHQNDVSAHVDILEYSHNVT	ALRKAFHQNDVSSHVDILEYSHNVT	3.0	2.0	unscreened	-	4014_11:33569420-33569420 G>T_ALRKAFHQNDVSSHVDILEYSHNVT
6:66044960-66044960 C>T	0.0	4014	LUNG	-	-	-	-	EYS	NM_001292009,p.G560D|NM_198283,p.G560D|ENST00000342421,p.G560D|ENST00000503581,p.G560D|uc021zbn.1,p.G560D|uc003peq.3,p.G560D|uc003per.1,p.G560D|NM_001142801,p.G560D|ENST00000393380,p.G560D|ENST00000370621,p.G560D|uc011dxu.1,p.G560D|ENST00000370618,p.G560D|NM_001142800,p.G560D|ENST00000370616,p.G560D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zbn.1	nonsynonymous SNV	exon11	c.G1679A	p.G560D	QEYRYLCFLRWAGNMYLENTTDDQE	QEYRYLCFLRWADNMYLENTTDDQE	4.0	10.0	-	-	4014_6:66044960-66044960 C>T_QEYRYLCFLRWADNMYLENTTDDQE
20:50408787-50408787 C>A	0.0	4014	LUNG	-	-	-	1	SALL4	uc002xwh.4,p.A79S|ENST00000395997,p.A79S|uc010gii.3,p.A79S|ENST00000217086,p.A79S|NM_020436,p.A79S	protein_coding, processed_transcript	uc010gii.3	nonsynonymous SNV	exon2	c.G235T	p.A79S	RREETHVCEKCCAEFFSISEFLEHK	RREETHVCEKCCSEFFSISEFLEHK	4.0	7.0	-	-	4014_20:50408787-50408787 C>A_RREETHVCEKCCSEFFSISEFLEHK
7:150417541-150417541 T>C	0.0	4014	LUNG	-	-	-	-	GIMAP1	NM_130759,p.V150A|ENST00000307194,p.V150A|uc003whq.3,p.V150A	retained_intron, protein_coding	uc003whq.3	nonsynonymous SNV	exon3	c.T449C	p.V150A	MFGEDVLKWMVIVFTRKEDLAGGSL	MFGEDVLKWMVIAFTRKEDLAGGSL	5.0	8.0	-	-	4014_7:150417541-150417541 T>C_MFGEDVLKWMVIAFTRKEDLAGGSL
3:188426068-188426068 G>T	1.0	4014	LUNG	-	-	-	1	LPP	uc003frt.3,p.G376V|uc003frs.2,p.G376V|uc011bsj.2,p.G213V|ENST00000312675,p.G376V|ENST00000543006,p.G376V|ENST00000448637,p.G376V|uc011bsi.2,p.G376V|ENST00000415906,p.G213V|NM_001167671,p.G376V|NM_005578,p.G376V	protein_coding, processed_transcript	uc011bsj.2	nonsynonymous SNV	exon3	c.G638T	p.G213V	CAPPLQPKGGHSGQLGPSSVAPSFR	CAPPLQPKGGHSVQLGPSSVAPSFR	8.0	10.0	-	-	4014_3:188426068-188426068 G>T_CAPPLQPKGGHSVQLGPSSVAPSFR
5:24491882-24491882 C>T	0.0	4014	LUNG	-	-	-	2	CDH10	NM_006727,p.S560N|uc003jgr.2,p.S560N|ENST00000264463,p.S560N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jgr.2	nonsynonymous SNV	exon11	c.G1679A	p.S560N	LTRKNGFNRHEISTYLLPVVISDND	LTRKNGFNRHEINTYLLPVVISDND	1.0	7.0	-	-	4014_5:24491882-24491882 C>T_LTRKNGFNRHEINTYLLPVVISDND
3:361529-361529 G>T	1.0	4014	LUNG	-	-	-	-	CHL1	NM_006614,p.A24S|uc003bot.3,p.A24S|ENST00000449294,p.A24S|ENST00000421198,p.A24S|uc003bow.2,p.A24S|ENST00000397491,p.A24S|uc011asi.2,p.A24S|ENST00000435603,p.A24S|NM_001253388,p.A24S|uc003bou.3,p.A24S|ENST00000256509,p.A24S|NM_001253387,p.A24S|ENST00000427688,p.A24S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011asi.2	nonsynonymous SNV	exon1	c.G70T	p.A24S	VYLMFLLLKFSKAIEIPSSVQQVPT	VYLMFLLLKFSKSIEIPSSVQQVPT	4.0	5.0	-	-	4014_3:361529-361529 G>T_VYLMFLLLKFSKSIEIPSSVQQVPT
1:70225882-70225882 C>A	0.0	4014	LUNG	-	-	-	-	LRRC7	uc001deo.1,p.L37M|ENST00000370958,p.L37M	protein_coding, processed_transcript, nonsense_mediated_decay	uc001deo.1	nonsynonymous SNV	exon3	c.C109A	p.L37M	ALRKRPEEELQCLEMTTKRKIIGRL	ALRKRPEEELQCMEMTTKRKIIGRL	1.0	10.0	-	-	4014_1:70225882-70225882 C>A_ALRKRPEEELQCMEMTTKRKIIGRL
1:70225882-70225882 C>A	0.0	4014	LUNG	-	-	-	-	LRRC7	ENST00000310961,p.L4M	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000310961	nonsynonymous SNV	exon4	c.C10A	p.L4M	MQCLEMTTKRKIIGRL	MQCMEMTTKRKIIGRL	1.0	10.0	-	-	4014_1:70225882-70225882 C>A_MQCMEMTTKRKIIGRL
12:53086357-53086357 C>-	0.0	4014	LUNG	-	-	-	-	KRT77	ENST00000537195,p.W192fs|uc001saw.3,p.W425fs|ENST00000341809,p.W425fs|uc009zmi.3,p.W183fs|NM_175078,p.W425fs	retained_intron, protein_coding, nonsense_mediated_decay	uc009zmi.3	frameshift deletion	exon8	c.549delG	p.W183fs	AEERGEQALQDAWQKLQDLEEALQQS	AEERGEQALQDACRSCRTWRRPCSSPRRSWPGCCVTTRPCWGSSCPWMWRSPPTASCWRARRAGCQESCRAM	1.0	1.0	unscreened	-	4014_12:53086357-53086357 C>-_AEERGEQALQDACRSCRTWRRPCSSPRRSWPGCCVTTRPCWGSSCPWMWRSPPTASCWRARRAGCQESCRAM
7:48139384-48139384 G>T	0.0	4014	LUNG	-	-	-	-	UPP1	ENST00000421046,p.K54N|ENST00000331803,p.K54N|NM_001287426,p.K54N|ENST00000444999,p.K54N|ENST00000436673,p.K54N|ENST00000341253,p.K54N|uc011kcg.1,p.K54N|ENST00000395564,p.K54N|uc003tok.3,p.K54N|uc003toj.3,p.K54N|uc003tol.3,p.K54N|NM_003364,p.K54N|ENST00000416681,p.K54N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kcg.1	nonsynonymous SNV	exon4	c.G162T	p.K54N	SRHNFPALFGDVKFVCVGGSPSRMK	SRHNFPALFGDVNFVCVGGSPSRMK	9.0	4.0	unscreened	-	4014_7:48139384-48139384 G>T_SRHNFPALFGDVNFVCVGGSPSRMK
1:179609135-179609135 C>A	0.0	4014	LUNG	-	-	-	-	TDRD5	uc021pfn.1,p.P561Q|NM_001199085,p.P561Q|ENST00000417329,p.P17Q|ENST00000367614,p.P561Q|NM_001199089,p.P561Q|uc021pfm.1,p.P561Q|NM_001199092,p.P116Q|uc001gnf.2,p.P561Q|NM_173533,p.P561Q|NM_001199091,p.P561Q|ENST00000444136,p.P561Q|uc001gnh.2,p.P116Q|ENST00000294848,p.P561Q|uc010pnp.2,p.P561Q	protein_coding	uc021pfn.1	nonsynonymous SNV	exon10	c.C1682A	p.P561Q	RVLEKQEVEVFYPDFGNIGIVQKSS	RVLEKQEVEVFYQDFGNIGIVQKSS	5.0	9.0	-	-	4014_1:179609135-179609135 C>A_RVLEKQEVEVFYQDFGNIGIVQKSS
1:248059327-248059327 G>T	0.0	4014	LUNG	-	-	-	-	OR2W3	NM_001001957,p.V147L|uc010pzb.2,p.V147L|ENST00000537741,p.V147L|uc001idp.1,p.V147L|ENST00000360358,p.V147L	protein_coding	uc010pzb.2	nonsynonymous SNV	exon1	c.G439T	p.V147L	IMNPRLCRGLVSVTWGCGVANSLAM	IMNPRLCRGLVSLTWGCGVANSLAM	2.0	10.0	-	-	4014_1:248059327-248059327 G>T_IMNPRLCRGLVSLTWGCGVANSLAM
12:3726178-3726180 AGA>-	0.0	4014	LUNG	-	-	-	-	CRACR2A	ENST00000440314,p.684_685del|NM_001144958,p.684_685del|uc010sen.1,p.684_685del	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sen.1	nonframeshift deletion	exon19	c.2051_2053del	p.684_685del	LGEQLATENNLIFYECSAYSGHNTKE	LGEQLATENNLIYECSAYSGHNTKE	4.0	1.0	unscreened	-	4014_12:3726178-3726180 AGA>-_LGEQLATENNLIYECSAYSGHNTKE
5:148407570-148407570 C>A	0.0	4014	LUNG	-	-	-	-	SH3TC2	ENST00000394358,p.L460F|ENST00000512049,p.L568F|ENST00000504690,p.L575F|uc003lpu.3,p.L575F|uc011dbz.1,p.L460F|uc010jgw.3,p.L219F|ENST00000538184,p.L122F|uc003lpt.3,p.L122F|NM_024577,p.L575F|uc010jgx.3,p.L568F|ENST00000515425,p.L575F|uc003lpv.1,p.L122F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dbz.1	nonsynonymous SNV	exon12	c.G1380T	p.L460F	EDLSLVATLYINLAAIYLKQRLRHK	EDLSLVATLYINFAAIYLKQRLRHK	3.0	7.0	-	-	4014_5:148407570-148407570 C>A_EDLSLVATLYINFAAIYLKQRLRHK
3:17202511-17202511 C>A	0.0	4014	LUNG	-	-	-	-	TBC1D5	ENST00000446818,p.D800Y|uc003cbe.3,p.D778Y|uc003cbf.3,p.D778Y|uc010heu.3,p.D365Y|ENST00000253692,p.D778Y|NM_001134381,p.D800Y|uc010hev.3,p.D800Y|NM_014744,p.D778Y|ENST00000429383,p.D778Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hev.3	nonsynonymous SNV	exon24	c.G2398T	p.D800Y	ASASSSNPSSSPDDDSSKDSGFTIV	ASASSSNPSSSPYDDSSKDSGFTIV	7.0	4.0	-	-	4014_3:17202511-17202511 C>A_ASASSSNPSSSPYDDSSKDSGFTIV
1:247769063-247769063 T>A	0.0	4014	LUNG	-	-	-	-	OR2G3	uc010pyz.2,p.M59K|NM_001001914,p.M59K|ENST00000320002,p.M59K	protein_coding	uc010pyz.2	nonsynonymous SNV	exon1	c.T176A	p.M59K	IISYLDPPLHTPMYFFLSNLSLLDI	IISYLDPPLHTPKYFFLSNLSLLDI	1.0	10.0	-	-	4014_1:247769063-247769063 T>A_IISYLDPPLHTPKYFFLSNLSLLDI
17:1840991-1840991 G>A	0.0	4014	LUNG	-	-	-	-	RTN4RL1	NM_178568,p.A42V|ENST00000331238,p.A42V|uc002ftp.3,p.A42V	protein_coding	uc002ftp.3	nonsynonymous SNV	exon2	c.C125T	p.A42V	VCYPAPMTVSCQAHNFAAIPEGIPV	VCYPAPMTVSCQVHNFAAIPEGIPV	5.0	5.0	-	-	4014_17:1840991-1840991 G>A_VCYPAPMTVSCQVHNFAAIPEGIPV
15:64444511-64444511 G>T	0.0	4014	LUNG	-	-	-	-	SNX22	ENST00000325881,p.A49S|ENST00000558466,p.A49S|NM_024798,p.A49S|uc002anc.1,p.A49S	retained_intron, protein_coding, nonsense_mediated_decay	uc002anc.1	nonsynonymous SNV	exon2	c.G145T	p.A49S	RHTVPRRYSEFHALHKRIKKLYKVP	RHTVPRRYSEFHSLHKRIKKLYKVP	5.0	5.0	-	-	4014_15:64444511-64444511 G>T_RHTVPRRYSEFHSLHKRIKKLYKVP
2:133721427-133721427 C>T	0.0	4014	LUNG	-	-	ID=COSM393512;OCCURENCE=1(lung)	-	NCKAP5	ENST00000405974,p.E149K|NM_207481,p.E149K|ENST00000409213,p.E149K|uc002ttq.3,p.E149K|ENST00000317721,p.E149K|ENST00000409261,p.E149K|NM_207363,p.E149K|uc002tts.1,p.E124K|uc002ttp.3,p.E149K	protein_coding, processed_transcript	uc002tts.1	nonsynonymous SNV	exon6	c.G370A	p.E124K	VNIMVYQEKLSEEERKHKEALEDLH	VNIMVYQEKLSEKERKHKEALEDLH	4.0	6.0	-	-	4014_2:133721427-133721427 C>T_VNIMVYQEKLSEKERKHKEALEDLH
7:72730644-72730644 G>T	0.0	4014	LUNG	-	-	-	-	TRIM50	ENST00000333149,p.P265H|uc003txz.1,p.P264H|uc003txy.1,p.P265H|NM_001281450,p.P264H|ENST00000453152,p.P265H|NM_178125,p.P265H|NM_001281451,p.P265H|uc010lbd.1,p.P265H	retained_intron, protein_coding, processed_transcript	uc010lbd.1	nonsynonymous SNV	exon6	c.C794A	p.P265H	MPQARPLEGAFSPISFKPGLHQADI	MPQARPLEGAFSHISFKPGLHQADI	2.0	5.0	-	-	4014_7:72730644-72730644 G>T_MPQARPLEGAFSHISFKPGLHQADI
7:31904609-31904609 C>A	0.0	4014	LUNG	-	-	-	-	PDE1C	uc003tcs.3,p.A233S|NM_001191058,p.A293S|ENST00000396182,p.A233S|uc003tcm.2,p.A233S|NM_005020,p.A233S|NM_001191056,p.A233S|uc003tcr.3,p.A233S|NM_001191059,p.A233S|ENST00000396191,p.A233S|NM_001191057,p.A233S|uc003tcn.1,p.A233S|ENST00000321453,p.A233S|ENST00000396184,p.A233S|uc003tco.2,p.A293S|ENST00000396193,p.A293S	retained_intron, protein_coding, processed_transcript	uc003tcs.3	nonsynonymous SNV	exon8	c.G697T	p.A233S	SKHKNPYHNLMHAADVTQTVHYLLY	SKHKNPYHNLMHSADVTQTVHYLLY	3.0	4.0	unscreened	-	4014_7:31904609-31904609 C>A_SKHKNPYHNLMHSADVTQTVHYLLY
9:96051237-96051237 C>T	0.0	4014	LUNG	-	-	-	2	WNK2	uc004atk.3,p.P1038S|ENST00000395477,p.P1401S|ENST00000349097,p.P1050S|uc011lud.1,p.P1401S|ENST00000427277,p.P1013S|uc004atj.3,p.P1401S|ENST00000297954,p.P1438S|uc004ati.1,p.P1438S|NM_001282394,p.P1438S|NM_006648,p.P1401S	retained_intron, protein_coding, processed_transcript	uc011lud.1	nonsynonymous SNV	exon19	c.C4201T	p.P1401S	PPVTALPQDGAAPATSTMPEPASGT	PPVTALPQDGAASATSTMPEPASGT	6.0	8.0	-	-	4014_9:96051237-96051237 C>T_PPVTALPQDGAASATSTMPEPASGT
7:11446987-11446987 G>T	1.0	4014	LUNG	-	-	-	-	THSD7A	NM_015204,p.Q1288K|uc021zzo.1,p.Q1288K|ENST00000423059,p.Q1288K	retained_intron, protein_coding, processed_transcript	uc021zzo.1	nonsynonymous SNV	exon20	c.C3862A	p.Q1288K	NTSCMVECPVNCQLSDWSPWSECSQ	NTSCMVECPVNCKLSDWSPWSECSQ	3.0	5.0	-	-	4014_7:11446987-11446987 G>T_NTSCMVECPVNCKLSDWSPWSECSQ
16:71212885-71212885 G>-	0.0	4014	LUNG	-	-	-	-	HYDIN	uc010vmd.2,p.N136fs|NM_017558,p.N109fs|NM_001198543,p.N126fs|uc021tkq.2,p.N109fs|NM_001270974,p.N109fs|uc031qwy.1,p.N109fs|ENST00000541601,p.N126fs|ENST00000538248,p.N136fs|ENST00000448691,p.N109fs|ENST00000321489,p.N109fs|NM_001198542,p.N136fs|ENST00000393567,p.N109fs|ENST00000448089,p.N109fs|ENST00000288168,p.N126fs|uc002ezw.4,p.N126fs|ENST00000393550,p.N109fs|uc010vmc.2,p.N126fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	frameshift deletion	exon4	c.327delC	p.N109fs	LFQPFPSEIIFQNYTPCEVYEVPLIL	LFQPFPSEIIFQNTLPVKSMKFH	3.0	5.0	-	-	4014_16:71212885-71212885 G>-_LFQPFPSEIIFQNTLPVKSMKFH
10:49984956-49984956 C>T	0.0	4014	LUNG	-	-	ID=COSM218273;OCCURENCE=2(pancreas)	-	WDFY4	uc001jha.4,p.R1009C|ENST00000325239,p.R1009C|NM_020945,p.R1009C	protein_coding, processed_transcript	uc001jha.4	nonsynonymous SNV	exon16	c.C3025T	p.R1009C	QTALSLISMTSPRNLQPQRAALAPS	QTALSLISMTSPCNLQPQRAALAPS	6.0	1.0	unscreened	-	4014_10:49984956-49984956 C>T_QTALSLISMTSPCNLQPQRAALAPS
2:21224658-21224658 T>C	0.0	4014	LUNG	-	-	-	-	APOB	uc002red.3,p.T4546A|ENST00000233242,p.T4546A|NM_000384,p.T4546A	protein_coding	uc002red.3	nonsynonymous SNV	exon29	c.A13636G	p.T4546A	YITELLKKLQSTTVMNPYMKLAPGE	YITELLKKLQSTAVMNPYMKLAPGE	1.0	5.0	-	-	4014_2:21224658-21224658 T>C_YITELLKKLQSTAVMNPYMKLAPGE
15:73541422-73541422 C>T	1.0	4014	LUNG	-	-	-	-	NEO1	ENST00000558964,p.P543L|uc010ukx.2,p.P543L|ENST00000261908,p.P543L|uc002avn.4,p.P563L|ENST00000560328,p.P239L|NM_001172624,p.P543L|NM_001172623,p.P543L|ENST00000560262,p.P543L|uc002avm.4,p.P543L|NM_002499,p.P543L|ENST00000339362,p.P543L|uc010uky.2,p.P543L	retained_intron, protein_coding, processed_transcript	uc010uky.2	nonsynonymous SNV	exon10	c.C1628T	p.P543L	ETQPEVQLPGPAPNLRAYAASPTSI	ETQPEVQLPGPALNLRAYAASPTSI	8.0	6.0	-	-	4014_15:73541422-73541422 C>T_ETQPEVQLPGPALNLRAYAASPTSI
19:9088127-9088127 C>G	1.0	4014	LUNG	-	-	-	2	MUC16	NM_024690,p.E1230Q|uc002mkp.3,p.E1230Q|ENST00000397910,p.E1230Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G3688C	p.E1230Q	VPLDTPSPATSLEASEGGLPTLSTY	VPLDTPSPATSLQASEGGLPTLSTY	8.0	8.0	-	-	4014_19:9088127-9088127 C>G_VPLDTPSPATSLQASEGGLPTLSTY
2:169923688-169923688 C>A	0.0	4014	LUNG	-	-	-	-	DHRS9	ENST00000432060,p.S11Y|uc010zdc.2,p.S11Y|NM_001289763,p.S11Y	protein_coding	uc010zdc.2	nonsynonymous SNV	exon1	c.C32A	p.S11Y	MPEGRSHCACSITSLTLLVSLTR	MPEGRSHCACYITSLTLLVSLTR	5.0	4.0	-	-	4014_2:169923688-169923688 C>A_MPEGRSHCACYITSLTLLVSLTR
3:109049376-109049376 G>T	0.0	4014	LUNG	-	-	-	-	DPPA4	uc003dxq.4,p.A225D|NM_018189,p.A225D|ENST00000335658,p.A225D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dxq.4	nonsynonymous SNV	exon5	c.C674A	p.A225D	ARTPEAVESPQEASGVRWCVVHGKS	ARTPEAVESPQEDSGVRWCVVHGKS	1.0	10.0	-	-	4014_3:109049376-109049376 G>T_ARTPEAVESPQEDSGVRWCVVHGKS
12:102038462-102038462 C>A	0.0	4014	LUNG	-	-	-	-	MYBPC1	ENST00000541119,p.P248T|ENST00000553190,p.P260T|NM_002465,p.P285T|NM_206820,p.P260T|uc001tii.3,p.P260T|NM_001254722,p.P234T|ENST00000392934,p.P247T|ENST00000452455,p.P260T|ENST00000361685,p.P285T|ENST00000361466,p.P285T|ENST00000547405,p.P234T|ENST00000536007,p.P241T|NM_206819,p.P285T|uc010svu.2,p.P241T|uc001tig.3,p.P285T|uc010svq.2,p.P247T|uc001tik.3,p.P234T|uc010svt.2,p.P248T|uc001tih.3,p.P285T|NM_001254723,p.P247T|ENST00000550270,p.P260T|ENST00000545503,p.P260T|ENST00000360610,p.P260T|NM_001254718,p.P260T|uc001tij.3,p.P260T|ENST00000547509,p.P246T|ENST00000549145,p.P273T|uc001tif.2,p.P273T|NM_001254719,p.P260T|uc010svr.2,p.P260T|NM_001254721,p.P241T|NM_001254720,p.P248T|uc010svs.2,p.P260T|NM_206821,p.P260T|ENST00000441232,p.P260T|ENST00000551300,p.P161T	retained_intron, protein_coding, processed_transcript	uc010svu.2	nonsynonymous SNV	exon9	c.C721A	p.P241T	EKKSAAFAKILDPAYQVDKGGRVRF	EKKSAAFAKILDTAYQVDKGGRVRF	3.0	10.0	-	-	4014_12:102038462-102038462 C>A_EKKSAAFAKILDTAYQVDKGGRVRF
1:91779049-91779049 C>A	0.0	4014	LUNG	-	-	-	-	HFM1	uc010osu.2,p.G762V|uc010osv.1,p.G767V|ENST00000370425,p.G1083V|uc001dob.4,p.G271V|ENST00000294696,p.G315V|ENST00000370424,p.G762V|uc001doa.4,p.G1083V|NM_001017975,p.G1083V	retained_intron, protein_coding, processed_transcript	uc010osv.1	nonsynonymous SNV	exon24	c.G2300T	p.G767V	DLSINLISSEFVGLDIQQKLTVFYL	DLSINLISSEFVVLDIQQKLTVFYL	2.0	8.0	-	-	4014_1:91779049-91779049 C>A_DLSINLISSEFVVLDIQQKLTVFYL
3:48612806-48612806 C>A	1.0	4014	LUNG	-	-	-	-	COL7A1	ENST00000328333,p.G2049V|uc003ctz.2,p.G2049V|NM_000094,p.G2049V|ENST00000454817,p.G2017V	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon73	c.G6146T	p.G2049V	GKPGIPGLPGRAGGVGEAGRPGERG	GKPGIPGLPGRAVGVGEAGRPGERG	8.0	3.0	-	-	4014_3:48612806-48612806 C>A_GKPGIPGLPGRAVGVGEAGRPGERG
6:152265308-152265308 G>T	0.0	4014	LUNG	-	-	-	1	ESR1	uc003qom.4,p.G254V|ENST00000443427,p.G254V|uc003qoo.4,p.G254V|NM_001122740,p.G254V|NM_001291230,p.G256V|uc011eex.2,p.G35V|ENST00000440973,p.G254V|uc010kio.3,p.G256V|NM_000125,p.G254V|NM_001122741,p.G254V|ENST00000544394,p.G81V|ENST00000338799,p.G254V|uc003qon.4,p.G254V|NM_001122742,p.G254V|ENST00000206249,p.G254V|uc010kin.3,p.G254V	protein_coding, processed_transcript	uc011eex.2	nonsynonymous SNV	exon2	c.G104T	p.G35V	LRKCYEVGMMKGGIRKDRRGGRMLK	LRKCYEVGMMKGVIRKDRRGGRMLK	3.0	8.0	-	-	4014_6:152265308-152265308 G>T_LRKCYEVGMMKGVIRKDRRGGRMLK
2:125671794-125671794 G>T	0.0	4014	LUNG	-	-	-	-	CNTNAP5	NM_130773,p.D1284Y|ENST00000431078,p.D1284Y|uc010flu.3,p.D1285Y|uc002tno.3,p.D1284Y	retained_intron, protein_coding, processed_transcript	uc010flu.3	nonsynonymous SNV	exon24	c.G3853T	p.D1285Y	SQMKEKEYPENLDSSFRNEIDLQNT	SQMKEKEYPENLYSSFRNEIDLQNT	1.0	7.0	-	-	4014_2:125671794-125671794 G>T_SQMKEKEYPENLYSSFRNEIDLQNT
15:64444511-64444511 G>T	0.0	4014	LUNG	-	-	-	-	SNX22	uc002ana.1,p.A49S	retained_intron, protein_coding, nonsense_mediated_decay	uc002ana.1	nonsynonymous SNV	exon2	c.G145T	p.A49S	RHTVPRRYSEFHALHKRVRRRRPPT	RHTVPRRYSEFHSLHKRVRRRRPPT	5.0	5.0	-	-	4014_15:64444511-64444511 G>T_RHTVPRRYSEFHSLHKRVRRRRPPT
5:166711954-166711954 A>G	0.0	4014	LUNG	-	-	-	-	TENM2	ENST00000545108,p.K38E|uc010jjd.3,p.K38E|ENST00000518659,p.K38E|uc021yhi.1,p.K38E|NM_001122679,p.K38E	retained_intron, protein_coding, processed_transcript	uc021yhi.1	nonsynonymous SNV	exon1	c.A112G	p.K38E	SLDSEDCRVPTQKSYSSSETLKAYD	SLDSEDCRVPTQESYSSSETLKAYD	2.0	8.0	-	-	4014_5:166711954-166711954 A>G_SLDSEDCRVPTQESYSSSETLKAYD
9:37737197-37737197 G>T	0.0	4014	LUNG	-	-	-	-	FRMPD1	uc011lqm.2,p.W324C|ENST00000536622,p.W324C|ENST00000541302,p.W371C|uc004aah.1,p.W502C|NM_014907,p.W502C|ENST00000377765,p.W502C|ENST00000539465,p.W502C|uc011lqn.2,p.W371C|uc004aag.1,p.W502C	protein_coding	uc011lqn.2	nonsynonymous SNV	exon10	c.G1113T	p.W371C	RLLVDPVTSIFLWPGNKQQAHRVSA	RLLVDPVTSIFLCPGNKQQAHRVSA	3.0	8.0	-	-	4014_9:37737197-37737197 G>T_RLLVDPVTSIFLCPGNKQQAHRVSA
19:57646440-57646440 C>T	0.0	4014	LUNG	-	-	-	-	ZIM3	NM_052882,p.S422N|uc002qnz.1,p.S422N|ENST00000269834,p.S422N	protein_coding	uc002qnz.1	nonsynonymous SNV	exon5	c.G1265A	p.S422N	QKTHSGERTYRCSECGKTFIRKLNL	QKTHSGERTYRCNECGKTFIRKLNL	1.0	4.0	unscreened	-	4014_19:57646440-57646440 C>T_QKTHSGERTYRCNECGKTFIRKLNL
18:13885385-13885385 C>A	0.0	4014	LUNG	-	-	-	-	MC2R	uc002ksp.1,p.V45F|ENST00000399821,p.V45F|ENST00000327606,p.V45F|uc021uhs.1,p.V45F|NM_001291911,p.V45F|NM_000529,p.V45F	protein_coding	uc021uhs.1	nonsynonymous SNV	exon1	c.G133T	p.V45F	TISIVGVLENLIVLLAVFKNKNLQA	TISIVGVLENLIFLLAVFKNKNLQA	1.0	8.0	-	-	4014_18:13885385-13885385 C>A_TISIVGVLENLIFLLAVFKNKNLQA
11:55872896-55872896 C>G	0.0	4014	LUNG	-	-	-	-	OR8H2	ENST00000313503,p.I126M|NM_001005200,p.I126M|uc010riy.2,p.I126M	protein_coding	uc010riy.2	nonsynonymous SNV	exon1	c.C378G	p.I126M	LLSSMAHDRYAAICSPLHYTVIMSK	LLSSMAHDRYAAMCSPLHYTVIMSK	1.0	3.0	unscreened	-	4014_11:55872896-55872896 C>G_LLSSMAHDRYAAMCSPLHYTVIMSK
5:5462433-5462433 G>A	0.0	4014	LUNG	-	-	-	-	ICE1	uc003jdm.5,p.G996R|ENST00000296564,p.G996R|NM_015325,p.G996R	retained_intron, protein_coding, processed_transcript	uc003jdm.5	nonsynonymous SNV	exon13	c.G2986A	p.G996R	QRQPQATDLDSSGTHGSEMLPATEV	QRQPQATDLDSSRTHGSEMLPATEV	7.0	1.0	unscreened	-	4014_5:5462433-5462433 G>A_QRQPQATDLDSSRTHGSEMLPATEV
X:67937730-67937730 A>T	0.0	4014	LUNG	-	-	-	-	STARD8	uc004dxa.3,p.H245L|uc004dxc.4,p.H245L|NM_001142504,p.H245L|uc004dxb.3,p.H325L|NM_001142503,p.H325L|ENST00000252336,p.H245L|ENST00000374599,p.H325L|NM_014725,p.H245L|ENST00000374597,p.H245L	protein_coding, processed_transcript, nonsense_mediated_decay	uc004dxc.4	nonsynonymous SNV	exon5	c.A734T	p.H245L	SLSIESLCPEDGHRLADWQPGRRWG	SLSIESLCPEDGLRLADWQPGRRWG	5.0	10.0	-	-	4014_X:67937730-67937730 A>T_SLSIESLCPEDGLRLADWQPGRRWG
3:48488409-48488409 G>T	1.0	4014	LUNG	-	-	-	-	ATRIP	ENST00000320211,p.D54Y|ENST00000346691,p.D54Y|NM_032166,p.D54Y|NM_130384,p.D54Y|uc003ctg.2,p.D54Y|uc003ctf.2,p.D54Y	retained_intron, protein_coding, nonsense_mediated_decay	uc003ctg.2	nonsynonymous SNV	exon1	c.G160T	p.D54Y	APDPDDPFGAHGDFTADDLEELDTL	APDPDDPFGAHGYFTADDLEELDTL	6.0	3.0	-	-	4014_3:48488409-48488409 G>T_APDPDDPFGAHGYFTADDLEELDTL
12:52082827-52082827 C>G	0.0	4014	LUNG	-	-	-	-	SCN8A	ENST00000550891,p.A218G|uc001ryz.1,p.A83G|uc001ryy.2,p.A83G|ENST00000551216,p.A16G	protein_coding, processed_transcript	uc001ryz.1	nonsynonymous SNV	exon3	c.C248G	p.A83G	YVTEFVDLGNVSALRTFRVLRALKT	YVTEFVDLGNVSGLRTFRVLRALKT	3.0	9.0	-	-	4014_12:52082827-52082827 C>G_YVTEFVDLGNVSGLRTFRVLRALKT
1:247836304-247836304 G>T	0.0	4014	LUNG	-	-	-	-	OR13G1	ENST00000359688,p.L14I|NM_001005487,p.L14I|uc001idi.1,p.L14I	protein_coding	uc001idi.1	nonsynonymous SNV	exon1	c.C40A	p.L14I	NHSVVTEFIILGLTKKPELQGIIFL	NHSVVTEFIILGITKKPELQGIIFL	1.0	7.0	-	-	4014_1:247836304-247836304 G>T_NHSVVTEFIILGITKKPELQGIIFL
7:126086321-126086321 C>T	0.0	4014	LUNG	-	-	-	-	GRM8	ENST00000444921,p.E846K|NM_001127323,p.E846K|uc003vlt.2,p.E846K|ENST00000358373,p.E846K|NM_000845,p.E846K|uc003vlr.2,p.E846K|ENST00000339582,p.E846K|ENST00000472701,p.E846K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vlt.2	nonsynonymous SNV	exon10	c.G2536A	p.E846K	YMPKVYIIIFHPEQNVQKRKRSFKA	YMPKVYIIIFHPKQNVQKRKRSFKA	3.0	1.0	unscreened	-	4014_7:126086321-126086321 C>T_YMPKVYIIIFHPKQNVQKRKRSFKA
3:109049376-109049376 G>T	0.0	4014	LUNG	-	-	-	-	DPPA4	uc011bhp.1,p.A225D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bhp.1	nonsynonymous SNV	exon5	c.C674A	p.A225D	ARTPEAVESPQEASGKRNMKSLFWS	ARTPEAVESPQEDSGKRNMKSLFWS	1.0	10.0	-	-	4014_3:109049376-109049376 G>T_ARTPEAVESPQEDSGKRNMKSLFWS
2:154996929-154996929 G>T	1.0	4014	LUNG	-	-	-	-	GALNT13	ENST00000409237,p.M74I|uc002tyr.4,p.M74I|uc002tyt.4,p.M74I|ENST00000392825,p.M74I|NM_001301627,p.M74I|NM_052917,p.M74I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tyt.4	nonsynonymous SNV	exon2	c.G222T	p.M74I	KAVLIPKDDQEKMKELFKINQFNLM	KAVLIPKDDQEKIKELFKINQFNLM	3.0	5.0	-	-	4014_2:154996929-154996929 G>T_KAVLIPKDDQEKIKELFKINQFNLM
7:18833029-18833029 G>T	0.0	4014	LUNG	-	-	-	-	HDAC9	uc003suh.3,p.G756V|ENST00000441542,p.G759V|ENST00000432645,p.G756V|ENST00000401921,p.G715V|NM_178423,p.G756V|uc003sua.1,p.G734V|NM_178425,p.G759V|ENST00000406451,p.G756V|uc003sue.3,p.G756V|NM_058176,p.G756V|uc003sui.3,p.G759V|uc003suj.3,p.G715V|uc011jyd.2,p.G756V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyd.2	nonsynonymous SNV	exon16	c.G2267T	p.G756V	ELHSSGAARMAVGCVIELASKVASG	ELHSSGAARMAVVCVIELASKVASG	5.0	4.0	unscreened	-	4014_7:18833029-18833029 G>T_ELHSSGAARMAVVCVIELASKVASG
20:4229581-4229581 G>T	0.0	4014	LUNG	-	-	-	-	ADRA1D	NM_000678,p.S8R|ENST00000379453,p.S8R|uc002wkr.2,p.S8R	protein_coding	uc002wkr.2	nonsynonymous SNV	exon1	c.C24A	p.S8R	MTFRDLLSVSFEGPRPDSSA	MTFRDLLRVSFEGPRPDSSA	1.0	6.0	-	-	4014_20:4229581-4229581 G>T_MTFRDLLRVSFEGPRPDSSA
17:37783688-37783688 G>T	0.0	4014	LUNG	-	-	-	-	PPP1R1B	ENST00000579000,p.A15S|uc002hrz.3,p.A15S|uc010cvx.3,p.A15S|NM_032192,p.A15S|ENST00000580825,p.A15S|ENST00000254079,p.A15S	retained_intron, protein_coding, nonsense_mediated_decay	uc010cvx.3	nonsynonymous SNV	exon1	c.G43T	p.A15S	PKDRKKIQFSVPAPPSQLDPRQVEM	PKDRKKIQFSVPSPPSQLDPRQVEM	6.0	9.0	-	-	4014_17:37783688-37783688 G>T_PKDRKKIQFSVPSPPSQLDPRQVEM
12:9002328-9002328 T>A	0.0	4014	LUNG	-	-	-	-	A2ML1	uc010sgm.3,p.S198T|uc001qva.1,p.S278T|uc001quz.5,p.S698T|NM_001282424,p.S207T|ENST00000299698,p.S698T|ENST00000539547,p.S207T|ENST00000541459,p.S248T|NM_144670,p.S698T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgm.3	nonsynonymous SNV	exon6	c.T592A	p.S198T	AKIKKPVDCSHRSPEYSTAMGAGGG	AKIKKPVDCSHRTPEYSTAMGAGGG	5.0	4.0	-	-	4014_12:9002328-9002328 T>A_AKIKKPVDCSHRTPEYSTAMGAGGG
12:70986140-70986140 G>T	0.0	4014	LUNG	-	-	-	1	PTPRB	ENST00000550857,p.P350T|NM_001206972,p.P350T|NM_002837,p.P350T|uc001swd.4,p.P567T|uc001swb.4,p.P350T|ENST00000261266,p.P350T|uc001swc.4,p.P568T|uc001swa.4,p.P568T|ENST00000551525,p.P567T|ENST00000451516,p.P350T|uc009zrr.2,p.P447T|NM_001109754,p.P568T|uc010sto.2,p.P350T|ENST00000550358,p.P568T|ENST00000334414,p.P568T|ENST00000538708,p.P350T|uc010stp.2,p.P350T|NM_001206971,p.P350T|uc001swe.3,p.P568T|ENST00000548122,p.P447T	retained_intron, protein_coding, processed_transcript	uc010stp.2	nonsynonymous SNV	exon5	c.C1048A	p.P350T	PWITETHFKELVPGRLYQVTVSCVS	PWITETHFKELVTGRLYQVTVSCVS	4.0	1.0	unscreened	-	4014_12:70986140-70986140 G>T_PWITETHFKELVTGRLYQVTVSCVS
17:37783688-37783688 G>T	0.0	4014	LUNG	-	-	-	-	PPP1R1B	ENST00000582680,p.A15S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000582680	nonsynonymous SNV	exon1	c.G43T	p.A15S	PKDRKKIQFSVPAPPSQLDPRQIRR	PKDRKKIQFSVPSPPSQLDPRQIRR	6.0	9.0	-	-	4014_17:37783688-37783688 G>T_PKDRKKIQFSVPSPPSQLDPRQIRR
1:21031213-21031213 G>T	0.0	4014	LUNG	-	-	-	-	KIF17	NM_001287212,p.H184N|NM_020816,p.H284N|ENST00000375044,p.H184N|ENST00000247986,p.H284N|ENST00000400463,p.H284N|NM_001122819,p.H284N|uc001bdr.4,p.H284N|uc001bds.4,p.H284N	protein_coding, processed_transcript	uc001bds.4	nonsynonymous SNV	exon5	c.C850A	p.H284N	NVISALVDGRCKHVPYRDSKLTRLL	NVISALVDGRCKNVPYRDSKLTRLL	4.0	10.0	-	-	4014_1:21031213-21031213 G>T_NVISALVDGRCKNVPYRDSKLTRLL
6:160221355-160221355 G>T	0.0	4014	LUNG	-	-	-	-	PNLDC1	NM_001271862,p.D6Y|ENST00000392167,p.D6Y|uc003qsy.2,p.D6Y	protein_coding	uc003qsy.2	nonsynonymous SNV	exon1	c.G16T	p.D6Y	MDVGADEFEESLPLLQEL	MDVGAYEFEESLPLLQEL	1.0	9.0	-	-	4014_6:160221355-160221355 G>T_MDVGAYEFEESLPLLQEL
12:108620782-108620782 G>T	0.0	4014	LUNG	-	-	-	-	WSCD2	ENST00000332082,p.A274S|ENST00000547525,p.A274S|uc001tmt.3,p.A274S|uc001tms.3,p.A274S|NM_014653,p.A274S|ENST00000549903,p.A274S|ENST00000261400,p.A274S|uc001tmu.3,p.A22S	retained_intron, protein_coding, processed_transcript	uc001tmu.3	nonsynonymous SNV	exon2	c.G64T	p.A22S	VDFCTEKEYPLAALAGTACHCGFPT	VDFCTEKEYPLASLAGTACHCGFPT	2.0	10.0	-	-	4014_12:108620782-108620782 G>T_VDFCTEKEYPLASLAGTACHCGFPT
1:248344083-248344083 C>A	0.0	4014	LUNG	-	-	-	-	OR2M2	ENST00000359682,p.H266N|NM_001004688,p.H266N|uc010pzf.2,p.H266N	protein_coding	uc010pzf.2	nonsynonymous SNV	exon1	c.C796A	p.H266N	AALFMYIRPTSDHSPTQDKMVSVFY	AALFMYIRPTSDNSPTQDKMVSVFY	1.0	10.0	-	-	4014_1:248344083-248344083 C>A_AALFMYIRPTSDNSPTQDKMVSVFY
12:125834795-125834795 A>C	0.0	4014	LUNG	-	-	-	-	TMEM132B	ENST00000299308,p.I284L|NM_052907,p.I284L|uc021rgl.1,p.I174L|uc001uhe.1,p.I284L	retained_intron, protein_coding, processed_transcript	uc021rgl.1	nonsynonymous SNV	exon1	c.A520C	p.I174L	KWSLVSLDENVVISVPLNLVREGDT	KWSLVSLDENVVLSVPLNLVREGDT	2.0	9.0	-	-	4014_12:125834795-125834795 A>C_KWSLVSLDENVVLSVPLNLVREGDT
8:113678545-113678545 T>A	0.0	4014	LUNG	-	-	-	2	CSMD3	uc011lhx.2,p.E822V|NM_198123,p.E926V|NM_052900,p.E822V|uc003yns.3,p.E198V|uc003ynu.3,p.E926V|ENST00000339701,p.E266V|ENST00000455883,p.E822V|uc003ynt.3,p.E886V|NM_198124,p.E886V|ENST00000343508,p.E886V|ENST00000297405,p.E926V|ENST00000352409,p.E926V	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon16	c.A2465T	p.E822V	YYKDSLNCEWVIEAEPGHSIKITFE	YYKDSLNCEWVIVAEPGHSIKITFE	1.0	7.0	-	-	4014_8:113678545-113678545 T>A_YYKDSLNCEWVIVAEPGHSIKITFE
6:152265308-152265308 G>T	0.0	4014	LUNG	-	-	-	1	ESR1	uc010kip.3,p.G253V|NM_001291241,p.G253V	protein_coding, processed_transcript	uc010kip.3	nonsynonymous SNV	exon5	c.G758T	p.G253V	RLRKCYEVGMMKGIRKDRRGGRMLK	RLRKCYEVGMMKVIRKDRRGGRMLK	3.0	8.0	-	-	4014_6:152265308-152265308 G>T_RLRKCYEVGMMKVIRKDRRGGRMLK
1:238051802-238051802 C>A	0.0	4014	LUNG	-	-	-	-	ZP4	ENST00000366570,p.A137S|NM_021186,p.A137S|uc001hym.3,p.A137S	protein_coding	uc001hym.3	nonsynonymous SNV	exon4	c.G409T	p.A137S	LLKCPMDLLARDAPDTDWCDSIPAR	LLKCPMDLLARDSPDTDWCDSIPAR	1.0	10.0	-	-	4014_1:238051802-238051802 C>A_LLKCPMDLLARDSPDTDWCDSIPAR
3:127334798-127334798 G>T	1.0	4014	LUNG	-	-	-	-	MCM2	ENST00000265056,p.G508C|uc011bkm.3,p.G378C|uc011bkn.2,p.G461C|NM_004526,p.G508C|uc003ejp.4,p.G508C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bkn.2	nonsynonymous SNV	exon8	c.G1381T	p.G461C	ALALFGGEPKNPGGKHKVRGDINVL	ALALFGGEPKNPCGKHKVRGDINVL	8.0	10.0	-	-	4014_3:127334798-127334798 G>T_ALALFGGEPKNPCGKHKVRGDINVL
1:205628649-205628649 C>T	1.0	4014	LUNG	-	-	-	1	SLC45A3	uc001hda.1,p.A459T|NM_033102,p.A459T|ENST00000367145,p.A459T	protein_coding, processed_transcript	uc001hda.1	nonsynonymous SNV	exon5	c.G1375A	p.A459T	GAGGSGLLPPPPALCGASACDVSVR	GAGGSGLLPPPPTLCGASACDVSVR	6.0	4.0	-	-	4014_1:205628649-205628649 C>T_GAGGSGLLPPPPTLCGASACDVSVR
8:52366184-52366184 C>G	0.0	4014	LUNG	-	-	-	-	PXDNL	uc003xqu.4,p.G382R|NM_144651,p.G382R|ENST00000543296,p.G382R|ENST00000356297,p.G382R	retained_intron, protein_coding, nonsense_mediated_decay	uc003xqu.4	nonsynonymous SNV	exon10	c.G1144C	p.G382R	ELDGSRHVATSSGLYLQNITQRDHG	ELDGSRHVATSSRLYLQNITQRDHG	3.0	7.0	-	-	4014_8:52366184-52366184 C>G_ELDGSRHVATSSRLYLQNITQRDHG
19:57327975-57327975 G>T	0.0	4014	LUNG	-	-	-	-	PEG3	ENST00000599577,p.P612Q|uc010etr.2,p.P612Q|uc002qnt.2,p.P583Q|NM_001146185,p.P486Q|ENST00000326441,p.P612Q|ENST00000593695,p.P486Q|ENST00000599534,p.P612Q|NM_001146184,p.P612Q|NM_001146187,p.P488Q|uc002qnv.2,p.P612Q|uc002qnw.2,p.P488Q|ENST00000598410,p.P488Q|ENST00000423103,p.P612Q|uc002qnx.2,p.P486Q|NM_001146186,p.P612Q|uc002qnu.2,p.P612Q|NM_006210,p.P612Q	protein_coding, processed_transcript	uc010etr.2	nonsynonymous SNV	exon9	c.C1835A	p.P612Q	RERERGETFRPSPALNEFQKMYGKE	RERERGETFRPSQALNEFQKMYGKE	4.0	7.0	-	-	4014_19:57327975-57327975 G>T_RERERGETFRPSQALNEFQKMYGKE
20:33330365-33330365 G>A	1.0	4014	LUNG	-	-	-	-	NCOA6	uc002xaw.3,p.T1232I|NM_014071,p.T1232I|ENST00000374796,p.T1232I|uc021wce.1,p.T1232I|ENST00000359003,p.T1232I|uc002xav.3,p.T1232I	retained_intron, protein_coding, processed_transcript	uc021wce.1	nonsynonymous SNV	exon9	c.C3695T	p.T1232I	YYPQTPNNRPPSTEPSEISLSPERL	YYPQTPNNRPPSIEPSEISLSPERL	8.0	5.0	-	-	4014_20:33330365-33330365 G>A_YYPQTPNNRPPSIEPSEISLSPERL
9:133279248-133279248 G>T	0.0	4014	LUNG	-	-	-	-	HMCN2	uc004bzk.1,p.R162L|ENST00000277491,p.R162L|uc004bzj.3,p.R577L	protein_coding	uc004bzk.1	nonsynonymous SNV	exon6	c.G485T	p.R162L	AKNSAGSAMGKTRLVVQVPPVIENG	AKNSAGSAMGKTLLVVQVPPVIENG	2.0	6.0	-	-	4014_9:133279248-133279248 G>T_AKNSAGSAMGKTLLVVQVPPVIENG
3:167051682-167051682 G>T	0.0	4014	LUNG	-	-	-	-	ZBBX	ENST00000307529,p.S207Y|uc003fep.3,p.S207Y|uc003feq.3,p.S178Y|uc011bpc.2,p.S207Y|ENST00000455345,p.S207Y|ENST00000392764,p.S178Y|ENST00000392767,p.S207Y|NM_001199202,p.S178Y|ENST00000392766,p.S207Y|NM_024687,p.S207Y|NM_001199201,p.S207Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bpc.2	nonsynonymous SNV	exon10	c.C620A	p.S207Y	DVNPDEPKEENNSTKETSKIQHKPK	DVNPDEPKEENNYTKETSKIQHKPK	1.0	9.0	-	-	4014_3:167051682-167051682 G>T_DVNPDEPKEENNYTKETSKIQHKPK
12:111748099-111748099 C>A	0.0	4014	LUNG	-	-	-	-	CUX2	uc001tsa.2,p.L505M|ENST00000261726,p.L505M|NM_015267,p.L505M	protein_coding, processed_transcript	uc001tsa.2	nonsynonymous SNV	exon15	c.C1513A	p.L505M	PPAAFKGEAGGLLVFPPAFYGAKPP	PPAAFKGEAGGLMVFPPAFYGAKPP	3.0	2.0	unscreened	-	4014_12:111748099-111748099 C>A_PPAAFKGEAGGLMVFPPAFYGAKPP
14:81251372-81251372 T>A	0.0	4014	LUNG	-	-	-	-	CEP128	ENST00000281129,p.H693L|uc031qpo.1,p.H720L|uc001xux.2,p.H693L|ENST00000555265,p.H693L|NM_152446,p.H693L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qpo.1	nonsynonymous SNV	exon16	c.A2159T	p.H720L	TIITQLKLERDVHQRELKDLTSSLQ	TIITQLKLERDVLQRELKDLTSSLQ	5.0	9.0	-	-	4014_14:81251372-81251372 T>A_TIITQLKLERDVLQRELKDLTSSLQ
11:55606693-55606693 G>T	0.0	4014	LUNG	-	-	-	-	OR5D16	uc010rio.2,p.A156S|ENST00000378396,p.A156S|NM_001005496,p.A156S	protein_coding	uc010rio.2	nonsynonymous SNV	exon1	c.G466T	p.A156S	AMLVVVLYAWGVACSLTLACSALKL	AMLVVVLYAWGVSCSLTLACSALKL	1.0	3.0	unscreened	-	4014_11:55606693-55606693 G>T_AMLVVVLYAWGVSCSLTLACSALKL
4:52861297-52861297 C>A	0.0	4014	LUNG	-	-	-	-	LRRC66	ENST00000343457,p.D631Y|uc003gzi.3,p.D631Y|NM_001024611,p.D631Y	protein_coding	uc003gzi.3	nonsynonymous SNV	exon4	c.G1891T	p.D631Y	EFSKERQVSSSIDLLSIQQPRLSGA	EFSKERQVSSSIYLLSIQQPRLSGA	2.0	5.0	unscreened	-	4014_4:52861297-52861297 C>A_EFSKERQVSSSIYLLSIQQPRLSGA
6:85446842-85446842 C>T	0.0	4014	LUNG	-	-	-	-	TBX18	uc003pkl.2,p.S462N|NM_001080508,p.S462N|ENST00000369663,p.S462N	protein_coding	uc003pkl.2	nonsynonymous SNV	exon8	c.G1385A	p.S462N	APPRTPSYVGVSSSTSVNMSMGGTD	APPRTPSYVGVSNSTSVNMSMGGTD	4.0	9.0	-	-	4014_6:85446842-85446842 C>T_APPRTPSYVGVSNSTSVNMSMGGTD
X:130219616-130219616 C>A	0.0	4014	LUNG	-	-	-	-	ARHGAP36	uc004ewb.3,p.P306Q|ENST00000370922,p.P325Q|uc004ewc.3,p.P201Q|uc004evz.3,p.P337Q|ENST00000370921,p.P201Q|uc004ewa.3,p.P325Q|ENST00000276211,p.P337Q|NM_144967,p.P337Q|ENST00000412432,p.P306Q|NM_001282607,p.P325Q	protein_coding	uc004ewc.3	nonsynonymous SNV	exon5	c.C602A	p.P201Q	QLSALQLLVYLMPPCHSDTLERLLK	QLSALQLLVYLMQPCHSDTLERLLK	1.0	10.0	-	-	4014_X:130219616-130219616 C>A_QLSALQLLVYLMQPCHSDTLERLLK
15:98417350-98417350 C>G	0.0	4014	LUNG	-	-	-	-	LINC00923	uc002buh.1,p.E56Q|ENST00000503768,p.E56Q|ENST00000503874,p.E56Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc002buh.1	nonsynonymous SNV	exon1	c.G166C	p.E56Q	FNFGAVKPKVRSEDKEKTHLLLFIQ	FNFGAVKPKVRSQDKEKTHLLLFIQ	2.0	7.0	-	-	4014_15:98417350-98417350 C>G_FNFGAVKPKVRSQDKEKTHLLLFIQ
10:48429006-48429006 C>A	0.0	4014	LUNG	-	-	-	-	GDF10	uc009xnq.2,p.A294S|uc001jfb.3,p.A294S|ENST00000224605,p.A294S|NM_004962,p.A294S|uc009xnp.3,p.A293S	protein_coding	uc009xnq.2	nonsynonymous SNV	exon2	c.G880T	p.A294S	NSADPRVRRAAQATGPLQDNELPGL	NSADPRVRRAAQSTGPLQDNELPGL	2.0	8.0	-	-	4014_10:48429006-48429006 C>A_NSADPRVRRAAQSTGPLQDNELPGL
8:97157369-97157369 C>A	0.0	4014	LUNG	-	-	-	-	GDF6	ENST00000287020,p.G264C|uc003yhp.3,p.G264C|NM_001001557,p.G264C	protein_coding	uc003yhp.3	nonsynonymous SNV	exon2	c.G790T	p.G264C	PQQPPPPDLRSLGFGRRVRPPQERA	PQQPPPPDLRSLCFGRRVRPPQERA	2.0	8.0	-	-	4014_8:97157369-97157369 C>A_PQQPPPPDLRSLCFGRRVRPPQERA
19:48918284-48918284 G>C	0.0	4014	LUNG	-	-	-	-	GRIN2D	ENST00000263269,p.G526R|NM_000836,p.G526R|uc002pjc.4,p.G526R	protein_coding	uc002pjc.4	nonsynonymous SNV	exon6	c.G1576C	p.G526R	GKKIDGVWNGMIGEVFYQRADMAIG	GKKIDGVWNGMIREVFYQRADMAIG	5.0	3.0	unscreened	-	4014_19:48918284-48918284 G>C_GKKIDGVWNGMIREVFYQRADMAIG
10:35929189-35929189 G>T	0.0	4014	LUNG	-	-	-	-	FZD8	uc001iyz.1,p.T390N|ENST00000374694,p.T390N|NM_031866,p.T390N	protein_coding	uc001iyz.1	nonsynonymous SNV	exon1	c.C1169A	p.T390N	ELGAVEQHVRYETTGPALCTVVFLL	ELGAVEQHVRYENTGPALCTVVFLL	5.0	2.0	unscreened	-	4014_10:35929189-35929189 G>T_ELGAVEQHVRYENTGPALCTVVFLL
16:86546611-86546611 T>G	0.0	4014	LUNG	-	-	-	-	FOXF1	NM_001451,p.S354A|uc002fjl.3,p.S354A|ENST00000262426,p.S354A	protein_coding	uc002fjl.3	nonsynonymous SNV	exon2	c.T1060G	p.S354A	KEFVFSFNAMASSSMHSAGGGSYYH	KEFVFSFNAMASASMHSAGGGSYYH	4.0	7.0	-	-	4014_16:86546611-86546611 T>G_KEFVFSFNAMASASMHSAGGGSYYH
2:215901748-215901748 G>T	0.0	4014	LUNG	-	-	-	-	ABCA12	uc002vew.3,p.T305N|ENST00000272895,p.T305N|NM_173076,p.T305N	protein_coding	uc002vew.3	nonsynonymous SNV	exon8	c.C914A	p.T305N	LLVVQKVYPRFATNEGFRTLQKSVK	LLVVQKVYPRFANNEGFRTLQKSVK	4.0	5.0	-	-	4014_2:215901748-215901748 G>T_LLVVQKVYPRFANNEGFRTLQKSVK
19:45206760-45206760 G>T	0.0	4014	LUNG	-	-	-	-	CEACAM16	NM_001039213,p.S60I|uc010xxd.2,p.S60I|ENST00000587331,p.S60I|ENST00000405314,p.S60I	protein_coding	uc010xxd.2	nonsynonymous SNV	exon3	c.G179T	p.S60I	LLAYSWYAGPTLSVSYLVASYIVST	LLAYSWYAGPTLIVSYLVASYIVST	1.0	6.0	-	-	4014_19:45206760-45206760 G>T_LLAYSWYAGPTLIVSYLVASYIVST
20:40713353-40713353 C>G	0.0	4014	LUNG	-	-	-	1	PTPRT	ENST00000373198,p.G1391R|ENST00000356100,p.G1378R|ENST00000373201,p.G1359R|NM_133170,p.G1388R|uc010ggi.3,p.G572R|ENST00000373193,p.G1372R|ENST00000373184,p.G1379R|uc010ggj.3,p.G1388R|uc002xkg.3,p.G1369R|NM_007050,p.G1369R|ENST00000373190,p.G1368R|ENST00000373187,p.G1369R	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon30	c.G4162C	p.G1388R	VRRLEKWQEQYDGREGRTVVHCLNG	VRRLEKWQEQYDRREGRTVVHCLNG	1.0	2.0	unscreened	-	4014_20:40713353-40713353 C>G_VRRLEKWQEQYDRREGRTVVHCLNG
7:136699887-136699887 G>T	0.0	4014	LUNG	-	-	-	-	CHRM2	NM_001006631,p.G92V|ENST00000401861,p.G92V|NM_000739,p.G92V|uc003vto.1,p.G92V|NM_001006629,p.G92V|ENST00000445907,p.G92V|uc022ame.1,p.G92V|uc003vti.1,p.G92V|NM_001006630,p.G92V|uc003vtf.1,p.G92V|ENST00000320658,p.G92V|uc003vtl.1,p.G92V|NM_001006632,p.G92V|uc003vtk.1,p.G92V|NM_001006626,p.G92V|ENST00000402486,p.G92V|uc003vtj.1,p.G92V|NM_001006627,p.G92V|uc003vtg.1,p.G92V|uc003vtm.1,p.G92V|ENST00000453373,p.G92V|NM_001006628,p.G92V|uc003vtn.1,p.G92V|ENST00000397608,p.G92V	protein_coding, processed_transcript	uc022ame.1	nonsynonymous SNV	exon1	c.G275T	p.G92V	YTLYTVIGYWPLGPVVCDLWLALDY	YTLYTVIGYWPLVPVVCDLWLALDY	1.0	5.0	-	-	4014_7:136699887-136699887 G>T_YTLYTVIGYWPLVPVVCDLWLALDY
19:55994845-55994845 G>T	0.0	4014	LUNG	-	-	-	-	ZNF628	uc002qld.3,p.R762L|NM_033113,p.R762L|ENST00000391718,p.R758L|ENST00000598519,p.R762L	protein_coding	uc002qld.3	nonsynonymous SNV	exon3	c.G2285T	p.R762L	AGAGGGRARQGPRAVGKAGQGAGVV	AGAGGGRARQGPLAVGKAGQGAGVV	5.0	3.0	unscreened	-	4014_19:55994845-55994845 G>T_AGAGGGRARQGPLAVGKAGQGAGVV
16:77353981-77353981 G>A	0.0	4014	LUNG	-	-	-	-	ADAMTS18	uc010chc.1,p.P354L|NM_199355,p.P766L|uc002ffc.4,p.P766L|ENST00000282849,p.P766L|uc002ffe.1,p.P462L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010chc.1	nonsynonymous SNV	exon11	c.C1061T	p.P354L	LYLNQHKANEYYPVVLIPAGARSIE	LYLNQHKANEYYLVVLIPAGARSIE	2.0	4.0	-	-	4014_16:77353981-77353981 G>A_LYLNQHKANEYYLVVLIPAGARSIE
3:19938333-19938333 C>G	0.0	4014	LUNG	-	-	-	-	EFHB	ENST00000389256,p.G524A|ENST00000295824,p.G524A|uc003cbm.3,p.G394A|ENST00000344838,p.G394A|NM_144715,p.G524A|uc003cbl.4,p.G524A	protein_coding, processed_transcript	uc003cbm.3	nonsynonymous SNV	exon11	c.G1181C	p.G394A	CTFGACLRPEEYGVGDLIHNRLPDE	CTFGACLRPEEYAVGDLIHNRLPDE	3.0	3.0	unscreened	-	4014_3:19938333-19938333 C>G_CTFGACLRPEEYAVGDLIHNRLPDE
2:186654172-186654172 T>A	0.0	4014	LUNG	-	-	-	-	FSIP2	ENST00000424728,p.V770D|uc002upl.3,p.V859D|NM_173651,p.V859D|ENST00000343098,p.V859D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.T2576A	p.V859D	IVENMLEKLESAVEKKCVEMFSQDL	IVENMLEKLESADEKKCVEMFSQDL	3.0	7.0	unscreened	-	4014_2:186654172-186654172 T>A_IVENMLEKLESADEKKCVEMFSQDL
9:108147739-108147739 G>T	1.0	4014	LUNG	-	-	-	-	SLC44A1	ENST00000374720,p.A636S|ENST00000374723,p.A636S|ENST00000374724,p.A636S|ENST00000470972,p.A636S|ENST00000343170,p.A428S|NM_080546,p.A636S|NM_001286730,p.A636S|uc004bcn.3,p.A636S|uc004bco.1,p.A428S	protein_coding, nonsense_mediated_decay	uc004bco.1	nonsynonymous SNV	exon10	c.G1282T	p.A428S	EFVENSRKAMKEAGKGGVADSRELK	EFVENSRKAMKESGKGGVADSRELK	7.0	1.0	-	-	4014_9:108147739-108147739 G>T_EFVENSRKAMKESGKGGVADSRELK
19:51892352-51892352 C>A	0.0	4014	LUNG	-	-	-	-	C19orf84	uc002pwn.3,p.M149I|ENST00000574814,p.M149I|NM_001193623,p.M149I	protein_coding	uc002pwn.3	nonsynonymous SNV	exon2	c.G447T	p.M149I	AGGPGAGPRTPPMTLPSPPTLPAQD	AGGPGAGPRTPPITLPSPPTLPAQD	1.0	6.0	-	-	4014_19:51892352-51892352 C>A_AGGPGAGPRTPPITLPSPPTLPAQD
12:97137566-97137566 C>A	0.0	4014	LUNG	-	-	-	-	CDK17,NEDD1	uc021rcc.1,p.L904M|ENST00000524981,p.L930M	-	uc021rcc.1	nonsynonymous SNV	exon21	c.C2710A	p.L904M	GNEFISPQSRLTLARSLVLLDDLTK	GNEFISPQSRLTMARSLVLLDDLTK	1.0	2.0	unscreened	-	4014_12:97137566-97137566 C>A_GNEFISPQSRLTMARSLVLLDDLTK
10:19494149-19494149 G>C	0.0	4014	LUNG	-	-	-	-	MALRD1	NM_001142308,p.D845H|ENST00000377266,p.D154H|ENST00000454679,p.D141H	protein_coding, processed_transcript	NM_001142308	nonsynonymous SNV	exon17	c.G2533C	p.D845H	HTRACIEKLRLCDLVDDCGDRTDEV	HTRACIEKLRLCHLVDDCGDRTDEV	1.0	7.0	unscreened	-	4014_10:19494149-19494149 G>C_HTRACIEKLRLCHLVDDCGDRTDEV
12:13769462-13769462 C>A	0.0	4014	LUNG	-	-	-	-	GRIN2B	ENST00000279593,p.V419L|uc001rbt.2,p.V419L|NM_000834,p.V419L	protein_coding	uc001rbt.2	nonsynonymous SNV	exon5	c.G1255T	p.V419L	SIVTLEEAPFVIVESVDPLSGTCMR	SIVTLEEAPFVILESVDPLSGTCMR	1.0	7.0	-	-	4014_12:13769462-13769462 C>A_SIVTLEEAPFVILESVDPLSGTCMR
17:56676999-56676999 G>C	0.0	4014	LUNG	-	-	-	-	TEX14	uc010dda.2,p.H349Q|NM_031272,p.H569Q|ENST00000349033,p.H569Q|ENST00000240361,p.H575Q|NM_001201457,p.H575Q|uc010dcz.2,p.H575Q|NM_198393,p.H569Q|ENST00000389934,p.H569Q|uc002iws.2,p.H569Q|uc002iwr.2,p.H569Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dda.2	nonsynonymous SNV	exon14	c.C1047G	p.H349Q	KEMGSQPHSPRVHSLFTEGTLDPQA	KEMGSQPHSPRVQSLFTEGTLDPQA	2.0	8.0	-	-	4014_17:56676999-56676999 G>C_KEMGSQPHSPRVQSLFTEGTLDPQA
9:119802182-119802182 G>T	0.0	4014	LUNG	-	-	-	-	ASTN2	ENST00000373996,p.L447M|ENST00000373986,p.L174M|ENST00000361209,p.L396M|uc022bmm.1,p.L96M|uc004bjt.2,p.L396M|ENST00000313400,p.L447M|uc022bml.1,p.L96M|NM_014010,p.L396M	protein_coding	uc022bmm.1	nonsynonymous SNV	exon4	c.C286A	p.L96M	TALTLIAVSSCILAMVCGSQMSCPL	TALTLIAVSSCIMAMVCGSQMSCPL	4.0	2.0	unscreened	-	4014_9:119802182-119802182 G>T_TALTLIAVSSCIMAMVCGSQMSCPL
5:112676221-112676221 T>C	0.0	4014	LUNG	-	-	-	-	MCC	uc003kql.4,p.N208D|ENST00000408903,p.N208D|NM_001085377,p.N208D	retained_intron, protein_coding, processed_transcript	uc003kql.4	nonsynonymous SNV	exon3	c.A622G	p.N208D	GNSVGGSYLELANTLHSAALASLKG	GNSVGGSYLELADTLHSAALASLKG	5.0	2.0	unscreened	-	4014_5:112676221-112676221 T>C_GNSVGGSYLELADTLHSAALASLKG
3:19551870-19551870 T>C	0.0	4014	LUNG	-	-	-	-	KCNH8	uc003cbk.1,p.S686P|ENST00000328405,p.S686P|uc010hex.1,p.S147P|NM_144633,p.S686P	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hex.1	nonsynonymous SNV	exon12	c.T439C	p.S147P	REGHESDVISRLSNKSMVSQSEPKG	REGHESDVISRLPNKSMVSQSEPKG	2.0	3.0	unscreened	-	4014_3:19551870-19551870 T>C_REGHESDVISRLPNKSMVSQSEPKG
9:78790162-78790162 G>C	0.0	4014	LUNG	-	-	-	-	PCSK5	uc004ajy.2,p.G673R|ENST00000376767,p.G673R	protein_coding	uc004ajy.2	nonsynonymous SNV	exon14	c.G2017C	p.G673R	WNGMKWNGMKWNGMEWNGMEWNRIE	WNGMKWNGMKWNRMEWNGMEWNRIE	4.0	1.0	unscreened	-	4014_9:78790162-78790162 G>C_WNGMKWNGMKWNRMEWNGMEWNRIE
14:20444212-20444212 C>T	0.0	4014	LUNG	-	-	-	-	OR4K15	ENST00000305051,p.H179Y|NM_001005486,p.H179Y|uc010tkx.2,p.H179Y	protein_coding	uc010tkx.2	nonsynonymous SNV	exon1	c.C535T	p.H179Y	VLVLISWFVGFIHTTSQLAFTVNLP	VLVLISWFVGFIYTTSQLAFTVNLP	1.0	3.0	unscreened	-	4014_14:20444212-20444212 C>T_VLVLISWFVGFIYTTSQLAFTVNLP
7:127235913-127235913 G>T	0.0	4014	LUNG	-	-	-	-	FSCN3	ENST00000420086,p.G99C|ENST00000265825,p.G233C|NM_020369,p.G233C|uc011koh.1,p.G99C|uc010llc.2,p.G233C|ENST00000478821,p.G99C|uc003vmc.1,p.G188C|uc003vmd.2,p.G233C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011koh.1	nonsynonymous SNV	exon3	c.G295T	p.G99C	PGGLVALCDGEGGMLYPQGTHLLLG	PGGLVALCDGEGCMLYPQGTHLLLG	4.0	3.0	unscreened	-	4014_7:127235913-127235913 G>T_PGGLVALCDGEGCMLYPQGTHLLLG
15:48548091-48548091 C>A	0.0	4014	LUNG	-	-	-	-	SLC12A1	ENST00000396577,p.H676N|ENST00000380993,p.H676N|NM_001184832,p.H676N|uc001zwr.4,p.H403N|ENST00000559641,p.H489N|uc001zwq.4,p.H447N|uc001zwn.4,p.H676N|uc010bem.3,p.H676N|NM_000338,p.H676N|ENST00000558405,p.H676N|uc010uew.1,p.H482N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uew.1	nonsynonymous SNV	exon15	c.C1444A	p.H482N	LDNALELTTVEDHVKNFRPQCIVLT	LDNALELTTVEDNVKNFRPQCIVLT	1.0	4.0	unscreened	-	4014_15:48548091-48548091 C>A_LDNALELTTVEDNVKNFRPQCIVLT
7:38505079-38505079 T>A	0.0	4014	LUNG	-	-	-	-	AMPH	NM_139316,p.Q246L|ENST00000325590,p.Q246L|ENST00000356264,p.Q246L|ENST00000428293,p.Q246L|uc003tgu.3,p.Q246L|NM_001635,p.Q246L|uc003tgv.3,p.Q246L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tgv.3	nonsynonymous SNV	exon9	c.A737T	p.Q246L	LGDQHADKAFTIQGAPSDSGPLRIA	LGDQHADKAFTILGAPSDSGPLRIA	4.0	4.0	-	-	4014_7:38505079-38505079 T>A_LGDQHADKAFTILGAPSDSGPLRIA
2:100210325-100210325 C>A	0.0	4014	LUNG	-	-	-	1	AFF3	uc002tah.1,p.A625S|uc010yvr.1,p.A753S|ENST00000409236,p.A600S|ENST00000317233,p.A600S|uc002tag.3,p.A600S|uc010fiq.1,p.A600S|ENST00000409579,p.A625S|NM_002285,p.A600S|ENST00000356421,p.A625S|uc002taf.3,p.A625S|NM_001025108,p.A625S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yvr.1	nonsynonymous SNV	exon15	c.G2257T	p.A753S	TRRTERTSAGDGANCHRPEEPAAAD	TRRTERTSAGDGSNCHRPEEPAAAD	3.0	7.0	-	-	4014_2:100210325-100210325 C>A_TRRTERTSAGDGSNCHRPEEPAAAD
19:10610304-10610305 GG>-	1.0	4014	LUNG	-	-	-	1	KEAP1	ENST00000591039,p.R135fs|ENST00000171111,p.R135fs|NM_203500,p.R135fs|ENST00000592055,p.R135fs|ENST00000591419,p.R135fs|NM_012289,p.R135fs|ENST00000393623,p.R135fs|uc002mor.1,p.R135fs|uc002moq.1,p.R135fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mor.1	frameshift deletion	exon2	c.405_406del	p.R135fs	VSIEGIHPKVMERLIEFAYTASISMG	VSIEGIHPKVMERH	10.0	8.0	-	-	4014_19:10610304-10610305 GG>-_VSIEGIHPKVMERH
11:56344581-56344581 G>T	0.0	4014	LUNG	-	-	-	-	OR5M10	NM_001004741,p.T206N|ENST00000526812,p.T206N|uc001niz.1,p.T206N	protein_coding	uc001niz.1	nonsynonymous SNV	exon1	c.C617A	p.T206N	VKKMAMFVVAGFTLSSSLFIILLSY	VKKMAMFVVAGFNLSSSLFIILLSY	1.0	1.0	unscreened	-	4014_11:56344581-56344581 G>T_VKKMAMFVVAGFNLSSSLFIILLSY
5:5462434-5462434 G>T	0.0	4014	LUNG	-	-	-	-	ICE1	ENST00000296564,p.G996V|uc003jdm.5,p.G996V|NM_015325,p.G996V	retained_intron, protein_coding, processed_transcript	uc003jdm.5	nonsynonymous SNV	exon13	c.G2987T	p.G996V	QRQPQATDLDSSGTHGSEMLPATEV	QRQPQATDLDSSVTHGSEMLPATEV	7.0	1.0	unscreened	-	4014_5:5462434-5462434 G>T_QRQPQATDLDSSVTHGSEMLPATEV
3:57148734-57148734 G>T	0.0	4014	LUNG	-	-	-	-	IL17RD	ENST00000427856,p.S75Y|uc003dik.3,p.S75Y|NM_017563,p.S99Y|ENST00000296318,p.S99Y|uc003dil.3,p.S99Y	retained_intron, protein_coding, processed_transcript	uc003dil.3	nonsynonymous SNV	exon3	c.C296A	p.S99Y	ACHDQVAVTILWSPGALGIEFLKGF	ACHDQVAVTILWYPGALGIEFLKGF	4.0	4.0	-	-	4014_3:57148734-57148734 G>T_ACHDQVAVTILWYPGALGIEFLKGF
12:27849535-27849535 A>T	0.0	4014	LUNG	-	-	-	-	REP15	NM_001029874,p.S14C|ENST00000310791,p.S14C|uc001rig.1,p.S14C	protein_coding	uc001rig.1	nonsynonymous SNV	exon1	c.A40T	p.S14C	GQKASQQLALKDSKEVPVVCEVVSE	GQKASQQLALKDCKEVPVVCEVVSE	4.0	7.0	-	-	4014_12:27849535-27849535 A>T_GQKASQQLALKDCKEVPVVCEVVSE
11:123777407-123777407 G>T	0.0	4014	LUNG	-	-	ID=COSM1352210;OCCURENCE=1(large_intestine)	-	OR8D4	uc010saa.2,p.R90I|NM_001005197,p.R90I|ENST00000321355,p.R90I	protein_coding	uc010saa.2	nonsynonymous SNV	exon1	c.G269T	p.R90I	TPKMLSGFLCRDRSISYSGCMIQLF	TPKMLSGFLCRDISISYSGCMIQLF	1.0	6.0	-	-	4014_11:123777407-123777407 G>T_TPKMLSGFLCRDISISYSGCMIQLF
7:150654458-150654458 G>T	0.0	4014	LUNG	-	-	-	-	KCNH2	uc011kux.2,p.A254D|ENST00000392968,p.A254D|ENST00000430723,p.A350D|uc003wic.3,p.A350D|NM_172056,p.A350D|NM_000238,p.A350D|ENST00000262186,p.A350D|uc003wie.3,p.A350D	retained_intron, protein_coding	uc011kux.2	nonsynonymous SNV	exon3	c.C761A	p.A254D	LNFVDLKGDPFLASPTSDREIIAPK	LNFVDLKGDPFLDSPTSDREIIAPK	3.0	6.0	-	-	4014_7:150654458-150654458 G>T_LNFVDLKGDPFLDSPTSDREIIAPK
17:19318125-19318125 G>-	0.0	4014	LUNG	-	-	-	-	RNF112	uc010vyx.1,p.G234fs|uc010vyw.2,p.G351fs|NM_007148,p.G351fs|ENST00000461366,p.G351fs	retained_intron, protein_coding, processed_transcript	uc010vyx.1	frameshift deletion	exon8	c.700delG	p.G234fs	SGRYPKVQELLQGKRARCCLLPAPGR	SGRYPKVQELLQGSEPVAASCLPQGGGG	3.0	4.0	-	-	4014_17:19318125-19318125 G>-_SGRYPKVQELLQGSEPVAASCLPQGGGG
16:48139221-48139221 C>A	0.0	4014	LUNG	-	-	-	-	ABCC12	uc002efc.1,p.R834S|ENST00000529504,p.R831S|ENST00000311303,p.R834S|ENST00000448542,p.R831S|ENST00000497206,p.R831S|NM_033226,p.R834S|ENST00000532494,p.R831S|ENST00000534418,p.R752S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002efc.1	nonsynonymous SNV	exon19	c.G2502T	p.R834S	KGSRMTCGPQGNRTMCEVGAVLADI	KGSRMTCGPQGNSTMCEVGAVLADI	1.0	5.0	-	-	4014_16:48139221-48139221 C>A_KGSRMTCGPQGNSTMCEVGAVLADI
18:64172431-64172431 C>T	0.0	4014	LUNG	-	-	-	-	CDH19	NM_021153,p.G646D|ENST00000262150,p.G646D|uc002lkc.2,p.G646D	protein_coding, nonsense_mediated_decay	uc002lkc.2	nonsynonymous SNV	exon12	c.G1937A	p.G646D	FRENIFQYDDEGGGEEDTEAFDIAE	FRENIFQYDDEGDGEEDTEAFDIAE	2.0	7.0	-	-	4014_18:64172431-64172431 C>T_FRENIFQYDDEGDGEEDTEAFDIAE
19:55857582-55857582 T>A	0.0	4014	LUNG	-	-	-	-	SUV420H2	uc002qkl.3,p.F76Y|ENST00000255613,p.F191Y|uc002qkj.4,p.F191Y|NM_032701,p.F191Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qkl.3	nonsynonymous SNV	exon5	c.T227A	p.F76Y	AFINHDCKPNCKFVPADGNAACVKV	AFINHDCKPNCKYVPADGNAACVKV	7.0	1.0	unscreened	-	4014_19:55857582-55857582 T>A_AFINHDCKPNCKYVPADGNAACVKV
12:33560153-33560153 C>A	0.0	4014	LUNG	-	-	-	-	SYT10	ENST00000228567,p.Q216H|NM_198992,p.Q216H|uc001rll.1,p.Q216H|ENST00000535526,p.Q35H|uc009zju.1,p.Q26H	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zju.1	nonsynonymous SNV	exon5	c.G78T	p.Q26H	TSIGRIKPELYKQKSVDSEGNQNED	TSIGRIKPELYKHKSVDSEGNQNED	1.0	2.0	unscreened	-	4014_12:33560153-33560153 C>A_TSIGRIKPELYKHKSVDSEGNQNED
19:53015390-53015390 C>A	0.0	4014	LUNG	-	-	-	-	ZNF578	uc002pzp.4,p.P586T|ENST00000421239,p.P586T|NM_001099694,p.P586T	protein_coding, processed_transcript	uc002pzp.4	nonsynonymous SNV	exon6	c.C1756A	p.P586T	KAHNHLIDSSIKPCMSS	KAHNHLIDSSIKTCMSS	4.0	7.0	-	-	4014_19:53015390-53015390 C>A_KAHNHLIDSSIKTCMSS
19:31768289-31768289 C>A	0.0	4014	LUNG	-	-	-	-	TSHZ3	NM_020856,p.G804C|uc002nsy.4,p.G804C|ENST00000240587,p.G804C	protein_coding, processed_transcript	uc002nsy.4	nonsynonymous SNV	exon2	c.G2410T	p.G804C	LTKGKSDKGCSLGSVLLSPTSTAPA	LTKGKSDKGCSLCSVLLSPTSTAPA	5.0	4.0	-	-	4014_19:31768289-31768289 C>A_LTKGKSDKGCSLCSVLLSPTSTAPA
9:78953181-78953181 G>T	0.0	4014	LUNG	-	-	-	-	PCSK5	ENST00000424854,p.R1268M|ENST00000545128,p.R1568M|NM_001190482,p.R1568M|uc004akc.2,p.R1568M	protein_coding	uc004akc.2	nonsynonymous SNV	exon34	c.G4703T	p.R1568M	GYYADNSTGRCERCNRSCKGCQGPR	GYYADNSTGRCEMCNRSCKGCQGPR	4.0	3.0	unscreened	-	4014_9:78953181-78953181 G>T_GYYADNSTGRCEMCNRSCKGCQGPR
11:55322653-55322653 T>C	0.0	4014	LUNG	-	-	-	-	OR4C15	ENST00000314644,p.S291P|NM_001001920,p.S291P|uc010rig.2,p.S291P	protein_coding	uc010rig.2	nonsynonymous SNV	exon1	c.T871C	p.S291P	RTHSSEGRWKALSTCGSHIAVVILF	RTHSSEGRWKALPTCGSHIAVVILF	1.0	2.0	unscreened	-	4014_11:55322653-55322653 T>C_RTHSSEGRWKALPTCGSHIAVVILF
10:105942269-105942269 C>A	0.0	4014	LUNG	-	-	-	-	CFAP43	ENST00000428666,p.R716L|ENST00000278064,p.R646L|uc001kxw.3,p.R715L|uc001kxx.4,p.R716L|ENST00000357060,p.R715L|uc009xxq.3,p.R23L|NM_025145,p.R715L	protein_coding, processed_transcript	uc009xxq.3	nonsynonymous SNV	exon3	c.G68T	p.R23L	RDDGTLVYLKWKRFGGHLASEILDY	RDDGTLVYLKWKLFGGHLASEILDY	4.0	5.0	unscreened	-	4014_10:105942269-105942269 C>A_RDDGTLVYLKWKLFGGHLASEILDY
5:140769142-140769142 C>T	0.0	4014	LUNG	-	-	-	-	PCDHGB4	NM_032098,p.A564V|NM_003736,p.A564V|uc003lkc.2,p.A564V|ENST00000519479,p.A564V	protein_coding	uc003lkc.2	nonsynonymous SNV	exon1	c.C1691T	p.A564V	DRNDNAPRVLYPALGPDGSALFDMV	DRNDNAPRVLYPVLGPDGSALFDMV	4.0	5.0	-	-	4014_5:140769142-140769142 C>T_DRNDNAPRVLYPVLGPDGSALFDMV
17:72348066-72348066 C>A	0.0	4014	LUNG	-	-	-	-	KIF19	uc002jkl.2,p.L508M|ENST00000389916,p.L550M|NM_153209,p.L550M|uc002jkm.4,p.L550M|ENST00000551294,p.L508M	 protein_coding,retained_intron	uc002jkm.4	nonsynonymous SNV	exon13	c.C1648A	p.L550M	ELRARGRRLEETLPRRIGSEEQREV	ELRARGRRLEETMPRRIGSEEQREV	2.0	5.0	-	-	4014_17:72348066-72348066 C>A_ELRARGRRLEETMPRRIGSEEQREV
14:50558398-50558398 C>A	0.0	4014	LUNG	-	-	-	-	C14orf183	ENST00000305273,p.C57F|NM_001014830,p.C57F|uc010tqk.2,p.C57F	protein_coding	uc010tqk.2	nonsynonymous SNV	exon2	c.G170T	p.C57F	LSAANAAQRGKCCCCREGHSPEDYG	LSAANAAQRGKCFCCREGHSPEDYG	1.0	2.0	unscreened	-	4014_14:50558398-50558398 C>A_LSAANAAQRGKCFCCREGHSPEDYG
16:49407853-49407853 G>T	0.0	4014	LUNG	-	-	-	-	C16orf78	NM_144602,p.M1I|ENST00000299191,p.M1I|uc002efr.3,p.M1I	protein_coding	uc002efr.3	nonsynonymous SNV	exon1	c.G3T	p.M1I	MSEQQMDLKDLMP	ISEQQMDLKDLMP	1.0	6.0	unscreened	-	4014_16:49407853-49407853 G>T_ISEQQMDLKDLMP
4:85414492-85414492 C>T	0.0	4014	LUNG	-	-	-	-	NKX6-1	ENST00000295886,p.G352S|ENST00000515820,p.G78S|NM_006168,p.G352S|uc003hpa.1,p.G352S	protein_coding	uc003hpa.1	nonsynonymous SNV	exon3	c.G1054A	p.G352S	TQLLKKHKSSSGGGGGLLLHASEPE	TQLLKKHKSSSGSGGGLLLHASEPE	2.0	4.0	-	-	4014_4:85414492-85414492 C>T_TQLLKKHKSSSGSGGGLLLHASEPE
17:72348066-72348066 C>A	0.0	4014	LUNG	-	-	-	-	KIF19	ENST00000599136,p.S69I	 protein_coding,retained_intron	ENST00000599136	nonsynonymous SNV	exon1	c.G206T	p.S69I	TSRCSSEPMRRGSVSSRRRPRARSS	TSRCSSEPMRRGIVSSRRRPRARSS	2.0	5.0	-	-	4014_17:72348066-72348066 C>A_TSRCSSEPMRRGIVSSRRRPRARSS
19:55857581-55857581 T>-	0.0	4014	LUNG	-	-	-	-	SUV420H2	NM_032701,p.F191fs|uc002qkl.3,p.F76fs|uc002qkj.4,p.F191fs|ENST00000255613,p.F191fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qkl.3	frameshift deletion	exon5	c.226delT	p.F76fs	AFINHDCKPNCKFVPADGNAACVKVL	AFINHDCKPNCKLCLQMGTQPA	7.0	1.0	unscreened	-	4014_19:55857581-55857581 T>-_AFINHDCKPNCKLCLQMGTQPA
11:33581340-33581340 G>A	0.0	4014	LUNG	-	-	ID=COSM4165774,COSM4165775;OCCURENCE=1(kidney)	-	KIAA1549L	ENST00000321505,p.V1004I|NM_012194,p.V1004I|uc021qfs.1,p.V1004I|ENST00000389726,p.V1010I|uc001mun.1,p.V1010I|ENST00000265654,p.V1010I	protein_coding	uc021qfs.1	nonsynonymous SNV	exon6	c.G3010A	p.V1004I	TSNASQAVTLVYVVGNQSTFLNGTV	TSNASQAVTLVYIVGNQSTFLNGTV	3.0	3.0	unscreened	-	4014_11:33581340-33581340 G>A_TSNASQAVTLVYIVGNQSTFLNGTV
12:33560154-33560154 T>C	0.0	4014	LUNG	-	-	-	-	SYT10	uc001rll.1,p.Q216R|ENST00000535526,p.Q35R|ENST00000228567,p.Q216R|uc009zju.1,p.Q26R|NM_198992,p.Q216R	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zju.1	nonsynonymous SNV	exon5	c.A77G	p.Q26R	TSIGRIKPELYKQKSVDSEGNQNED	TSIGRIKPELYKRKSVDSEGNQNED	1.0	2.0	unscreened	-	4014_12:33560154-33560154 T>C_TSIGRIKPELYKRKSVDSEGNQNED
12:43777371-43777371 T>C	1.0	4014	LUNG	-	-	-	-	ADAMTS20	NM_025003,p.D1596G|uc010skx.2,p.D1596G|ENST00000389420,p.D1596G	protein_coding	uc010skx.2	nonsynonymous SNV	exon31	c.A4787G	p.D1596G	RNPPCNYIVVTADSSQCANNCGFSY	RNPPCNYIVVTAGSSQCANNCGFSY	2.0	1.0	-	-	4014_12:43777371-43777371 T>C_RNPPCNYIVVTAGSSQCANNCGFSY
21:32253800-32253800 A>G	0.0	4014	LUNG	-	-	-	-	KRTAP11-1	uc002yov.3,p.I15T|ENST00000332378,p.I15T|NM_175858,p.I15T	protein_coding	uc002yov.3	nonsynonymous SNV	exon1	c.T44C	p.I15T	FNCSTRNCSSRPIGGRCIVPVAQVT	FNCSTRNCSSRPTGGRCIVPVAQVT	1.0	1.0	unscreened	-	4014_21:32253800-32253800 A>G_FNCSTRNCSSRPTGGRCIVPVAQVT
5:160757969-160757969 C>A	0.0	4014	LUNG	-	-	-	-	GABRB2	ENST00000517901,p.R270M|ENST00000353437,p.R333M|ENST00000274547,p.R333M|ENST00000520240,p.R333M|NM_000813,p.R333M|uc003lyt.1,p.R333M|uc003lys.1,p.R333M|uc011deh.1,p.R172M|uc021yhg.1,p.R270M|NM_021911,p.R333M|ENST00000517547,p.R173M|uc003lyr.1,p.R333M|ENST00000393959,p.R333M	retained_intron, protein_coding, processed_transcript	uc021yhg.1	nonsynonymous SNV	exon7	c.G809T	p.R270M	LEYALVNYIFFGRGPQRQKKAAEKA	LEYALVNYIFFGMGPQRQKKAAEKA	2.0	1.0	unscreened	-	4014_5:160757969-160757969 C>A_LEYALVNYIFFGMGPQRQKKAAEKA
11:128844544-128844544 C>A	1.0	4014	LUNG	-	-	-	-	ARHGAP32	NM_014715,p.A487S|uc001qez.3,p.A487S|uc009zcp.3,p.A836S|ENST00000310343,p.A836S|NM_001142685,p.A836S|uc009zcq.2,p.A796S|ENST00000527272,p.A487S|ENST00000392657,p.A487S|ENST00000524655,p.A762S	retained_intron, protein_coding	uc009zcq.2	nonsynonymous SNV	exon19	c.G2386T	p.A796S	YSKDKPSANKKDAETGSSQCQTPGS	YSKDKPSANKKDSETGSSQCQTPGS	7.0	2.0	-	-	4014_11:128844544-128844544 C>A_YSKDKPSANKKDSETGSSQCQTPGS
9:125390876-125390876 C>A	0.0	4014	LUNG	-	-	-	-	OR1B1	uc011lyz.2,p.W313C|ENST00000304833,p.W313C|NM_001004450,p.W313C	protein_coding	uc011lyz.2	nonsynonymous SNV	exon1	c.G939T	p.W313C	KDVKGALCRLLEWVKVDP	KDVKGALCRLLECVKVDP	1.0	1.0	unscreened	-	4014_9:125390876-125390876 C>A_KDVKGALCRLLECVKVDP
1:152188514-152188514 C>A	0.0	4014	LUNG	-	-	-	-	HRNR	ENST00000368801,p.G1864V|uc001ezt.2,p.G1864V|NM_001009931,p.G1864V	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G5591T	p.G1864V	SGWSSSSGRHGSGSGQSSGFGHHES	SGWSSSSGRHGSVSGQSSGFGHHES	1.0	1.0	unscreened	-	4014_1:152188514-152188514 C>A_SGWSSSSGRHGSVSGQSSGFGHHES
11:77920964-77920964 C>A	0.0	4014	LUNG	-	-	-	-	USP35	uc001ozd.3,p.T299K|uc010rsp.2,p.T120K|uc001ozf.3,p.T419K|uc001ozc.3,p.T256K|NM_020798,p.T688K|ENST00000529308,p.T688K|ENST00000530267,p.T256K|uc021qny.1,p.T688K|ENST00000526425,p.T419K|ENST00000441408,p.T274K|uc001oze.2,p.T444K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qny.1	nonsynonymous SNV	exon10	c.C2063A	p.T688K	RIEREEEGKEERTEKEEVGEEEEST	RIEREEEGKEERKEKEEVGEEEEST	6.0	3.0	unscreened	-	4014_11:77920964-77920964 C>A_RIEREEEGKEERKEKEEVGEEEEST
11:43345164-43345164 G>A	1.0	4032	COLON	-	-	-	-	API5	ENST00000526394,p.R93Q	retained_intron, protein_coding, processed_transcript	ENST00000526394	nonsynonymous SNV	exon2	c.G278A	p.R93Q	DPDCVDRLLQCTRQAVPLFSVLKLL	DPDCVDRLLQCTQQAVPLFSVLKLL	9.0	9.0	unscreened	-	4032_11:43345164-43345164 G>A_DPDCVDRLLQCTQQAVPLFSVLKLL
11:43345164-43345164 G>A	1.0	4032	COLON	-	-	-	-	API5	ENST00000534600,p.R243Q|uc010rfg.1,p.R232Q|uc001mxg.3,p.R117Q|uc001mxf.2,p.R243Q|NM_001142931,p.R189Q|NM_001142930,p.R243Q|uc010rfi.1,p.R189Q|ENST00000531273,p.R243Q|NM_006595,p.R243Q|ENST00000378852,p.R243Q|ENST00000420461,p.R189Q|ENST00000455725,p.R232Q|uc010rfh.1,p.R243Q	retained_intron, protein_coding, processed_transcript	uc010rfi.1	nonsynonymous SNV	exon5	c.G566A	p.R189Q	DPDCVDRLLQCTRQAVPLFSKNVHS	DPDCVDRLLQCTQQAVPLFSKNVHS	9.0	9.0	CD8	-	4032_11:43345164-43345164 G>A_DPDCVDRLLQCTQQAVPLFSKNVHS
18:60497388-60497388 G>A	1.0	4032	COLON	-	-	-	-	PHLPP1	ENST00000262719,p.G566E|NM_194449,p.G566E|uc021ule.1,p.G566E|ENST00000400316,p.G54E	protein_coding, processed_transcript	uc021ule.1	nonsynonymous SNV	exon2	c.G1697A	p.G566E	VNRWTRRQVILCGTCLIVSSVKDSL	VNRWTRRQVILCETCLIVSSVKDSL	8.0	10.0	CD8	-	4032_18:60497388-60497388 G>A_VNRWTRRQVILCETCLIVSSVKDSL
12:113715121-113715121 G>A	1.0	4032	COLON	-	-	ID=COSM3811107,COSM3811106;OCCURENCE=1(breast)	-	TPCN1	uc001tux.3,p.R451H|NM_001301214,p.R311H|NM_001143819,p.R451H|NM_017901,p.R379H|ENST00000541517,p.R451H|ENST00000392569,p.R311H|uc001tuw.3,p.R379H|ENST00000335509,p.R379H|uc010syt.1,p.R311H|ENST00000550785,p.R451H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010syt.1	nonsynonymous SNV	exon11	c.G932A	p.R311H	MRFYKPRMSARERYLTFKALNQNNT	MRFYKPRMSAREHYLTFKALNQNNT	9.0	10.0	-	-	4032_12:113715121-113715121 G>A_MRFYKPRMSAREHYLTFKALNQNNT
14:67576879-67576879 G>A	1.0	4032	COLON	-	-	-	1	GPHN	uc010tsu.2,p.G329E|uc010tss.2,p.G452E|uc001xiy.3,p.G406E|ENST00000478722,p.G439E|uc010tst.2,p.G375E|uc001xix.3,p.G439E|ENST00000305960,p.G375E|NM_020806,p.G439E|ENST00000315266,p.G406E|NM_001024218,p.G406E|ENST00000543237,p.G452E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tsu.2	nonsynonymous SNV	exon12	c.G986A	p.G329E	QAGEQPTQTVMPGQVMRVTTGAPIP	QAGEQPTQTVMPEQVMRVTTGAPIP	8.0	7.0	-	-	4032_14:67576879-67576879 G>A_QAGEQPTQTVMPEQVMRVTTGAPIP
12:25398284-25398284 C>T	1.0	4032	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|uc001rgp.1,p.G12D|ENST00000556131,p.G12D|uc001rgq.1,p.G12D|ENST00000256078,p.G12D|ENST00000557334,p.G12D|NM_033360,p.G12D|ENST00000311936,p.G12D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35A	p.G12D	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGADGVGKSALTIQLI	8.0	10.0	-	-	4032_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI
12:27950771-27950771 G>A	1.0	4032	COLON	-	-	-	-	KLHL42	uc001rij.3,p.G397E|ENST00000381271,p.G397E|NM_020782,p.G397E	retained_intron, protein_coding, nonsense_mediated_decay	uc001rij.3	nonsynonymous SNV	exon3	c.G1190A	p.G397E	QMVSVEETIYIVGGCLHELGPNRRS	QMVSVEETIYIVEGCLHELGPNRRS	8.0	10.0	-	-	4032_12:27950771-27950771 G>A_QMVSVEETIYIVEGCLHELGPNRRS
17:4619480-4619480 C>T	1.0	4032	COLON	-	-	-	-	ARRB2	uc002fyl.3,p.R52C|NM_001257329,p.R52C|NM_004313,p.R52C|NM_001257330,p.R52C|uc031qyd.1,p.R52C|uc002fyj.3,p.R52C|uc031qyc.1,p.R52C|uc010vsg.2,p.R52C|NM_001257328,p.R52C|ENST00000269260,p.R52C|ENST00000576235,p.R41C|ENST00000575877,p.R52C|ENST00000412477,p.R52C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qyd.1	nonsynonymous SNV	exon4	c.C154T	p.R52C	GVVLVDPDYLKDRKVFVTLTCAFRY	GVVLVDPDYLKDCKVFVTLTCAFRY	8.0	9.0	-	-	4032_17:4619480-4619480 C>T_GVVLVDPDYLKDCKVFVTLTCAFRY
16:70166087-70166087 G>A	1.0	4032	COLON	-	-	ID=COSM704345;OCCURENCE=1(lung)	-	PDPR	ENST00000568530,p.R294Q|ENST00000288050,p.R294Q|ENST00000565186,p.R294Q|ENST00000398122,p.R194Q|NM_017990,p.R294Q|uc010vlr.1,p.R194Q|uc002eyf.1,p.R294Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vlr.1	nonsynonymous SNV	exon7	c.G581A	p.R194Q	PTIVDADGRIYIRNWQGGILSGGFE	PTIVDADGRIYIQNWQGGILSGGFE	7.0	3.0	-	-	4032_16:70166087-70166087 G>A_PTIVDADGRIYIQNWQGGILSGGFE
16:70166087-70166087 G>A	1.0	4032	COLON	-	-	ID=COSM704345;OCCURENCE=1(lung)	-	PDPR	uc002eyg.1,p.R22Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eyg.1	nonsynonymous SNV	exon2	c.G65A	p.R22Q	KAIVDADGRIYIRNWQGGILSGGFE	KAIVDADGRIYIQNWQGGILSGGFE	7.0	3.0	-	-	4032_16:70166087-70166087 G>A_KAIVDADGRIYIQNWQGGILSGGFE
12:121002923-121002923 G>A	1.0	4032	COLON	-	-	-	-	RNF10	ENST00000545419,p.E108K|ENST00000413266,p.E577K|ENST00000325954,p.E572K|ENST00000540046,p.E116K|NM_014868,p.E572K|uc001tyq.4,p.E483K|ENST00000546262,p.E20K|uc001typ.4,p.E572K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tyq.4	nonsynonymous SNV	exon10	c.G1447A	p.E483K	RHRYLSHLPLTCEFSICELALQPPV	RHRYLSHLPLTCKFSICELALQPPV	10.0	5.0	CD8	-	4032_12:121002923-121002923 G>A_RHRYLSHLPLTCKFSICELALQPPV
15:101938733-101938733 G>A	1.0	4032	COLON	-	-	-	-	PCSK6	ENST00000398185,p.S193L|ENST00000348070,p.S290L|uc010bpd.3,p.S161L|ENST00000344273,p.S290L|ENST00000358417,p.S290L|ENST00000331826,p.S125L|ENST00000398181,p.S290L	retained_intron, protein_coding, processed_transcript	uc010bpd.3	nonsynonymous SNV	exon6	c.C482T	p.S161L	LDGDVTDVVEAKSLGIRPNYIDIYS	LDGDVTDVVEAKLLGIRPNYIDIYS	5.0	10.0	-	-	4032_15:101938733-101938733 G>A_LDGDVTDVVEAKLLGIRPNYIDIYS
19:15226820-15226820 C>T	1.0	4032	COLON	-	-	-	-	ILVBL	ENST00000534378,p.D405N|ENST00000263383,p.D512N|uc002nam.3,p.D512N|NM_006844,p.D512N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nam.3	nonsynonymous SNV	exon13	c.G1534A	p.D512N	AGFALGAKLCRPDAEVWCLFGDGAF	AGFALGAKLCRPNAEVWCLFGDGAF	10.0	8.0	-	-	4032_19:15226820-15226820 C>T_AGFALGAKLCRPNAEVWCLFGDGAF
5:56171095-56171095 G>C	1.0	4032	COLON	-	-	-	1	MAP3K1	uc003jqw.4,p.M641I|ENST00000399503,p.M641I|NM_005921,p.M641I	retained_intron, protein_coding	uc003jqw.4	nonsynonymous SNV	exon10	c.G1923C	p.M641I	GDVVEACCSVLSMVCADPVYKVYVA	GDVVEACCSVLSIVCADPVYKVYVA	7.0	10.0	-	-	4032_5:56171095-56171095 G>C_GDVVEACCSVLSIVCADPVYKVYVA
7:121756793-121756793 G>A	0.0	4032	COLON	-	-	ID=COSM452230;OCCURENCE=1(breast),2(central_nervous_system)	-	AASS	ENST00000358954,p.T263M|ENST00000417368,p.T263M|uc003vkb.3,p.T263M|NM_005763,p.T263M|uc003vka.3,p.T263M|ENST00000431170,p.T263M|ENST00000393376,p.T263M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vkb.3	nonsynonymous SNV	exon8	c.C788T	p.T263M	VSQTGDLRKVYGTVLSRHHHLVRKT	VSQTGDLRKVYGMVLSRHHHLVRKT	8.0	10.0	-	-	4032_7:121756793-121756793 G>A_VSQTGDLRKVYGMVLSRHHHLVRKT
7:150814222-150814222 T>C	0.0	4032	COLON	-	-	-	-	AGAP3	NM_031946,p.V144A|ENST00000473312,p.V144A|ENST00000335367,p.V324A|uc010lpy.1,p.V144A|NM_001042535,p.V144A|uc003wjg.1,p.V144A|uc003wjf.1,p.V144A|uc003wjh.1,p.V324A|ENST00000397238,p.V144A|ENST00000479901,p.V144A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lpy.1	nonsynonymous SNV	exon3	c.T431C	p.V144A	IVGNLSSGKSALVHRYLTGTYVQEE	IVGNLSSGKSALAHRYLTGTYVQEE	10.0	4.0	-	-	4032_7:150814222-150814222 T>C_IVGNLSSGKSALAHRYLTGTYVQEE
7:18914211-18914211 C>T	0.0	4032	COLON	-	-	ID=COSM240084,COSM240083;OCCURENCE=1(large_intestine),1(prostate)	-	HDAC9	uc003sue.3,p.T929M|NM_058176,p.T929M|uc003suj.3,p.T888M|NM_178425,p.T932M|NM_178423,p.T929M|uc003sui.3,p.T932M|uc003suh.3,p.T929M|ENST00000432645,p.T929M|ENST00000401921,p.T888M|ENST00000441542,p.T932M|ENST00000406451,p.T929M|uc003suk.3,p.T177M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003suk.3	nonsynonymous SNV	exon6	c.C530T	p.T177M	EGHTPPLGGYKVTAKCFGHLTKQLM	EGHTPPLGGYKVMAKCFGHLTKQLM	8.0	3.0	-	-	4032_7:18914211-18914211 C>T_EGHTPPLGGYKVMAKCFGHLTKQLM
11:68773642-68773642 C>T	0.0	4032	COLON	-	-	-	-	MRGPRF	NM_145015,p.V46I|NM_001098515,p.V46I|uc001ooo.4,p.V46I|ENST00000309099,p.V46I|uc001oop.4,p.V46I|ENST00000441623,p.V46I	protein_coding	uc001oop.4	nonsynonymous SNV	exon3	c.G136A	p.V46I	TIEQIAMLPPPAVMNYIFLLLCLCG	TIEQIAMLPPPAIMNYIFLLLCLCG	5.0	5.0	-	-	4032_11:68773642-68773642 C>T_TIEQIAMLPPPAIMNYIFLLLCLCG
6:27839778-27839778 C>G	0.0	4032	COLON	-	-	ID=COSM1311911;OCCURENCE=1(urinary_tract),1(upper_aerodigestive_tract),1(lung)	-	HIST1H3I	NM_003533,p.E106Q|uc003njy.3,p.E106Q|ENST00000328488,p.E106Q	protein_coding	uc003njy.3	nonsynonymous SNV	exon1	c.G316C	p.E106Q	QEACEAYLVGLFEDTNLCAIHAKRV	QEACEAYLVGLFQDTNLCAIHAKRV	9.0	1.0	unscreened	-	4032_6:27839778-27839778 C>G_QEACEAYLVGLFQDTNLCAIHAKRV
5:174192-174192 C>T	0.0	4032	COLON	-	-	ID=COSM1567729,COSM1567730;OCCURENCE=1(large_intestine)	-	PLEKHG4B	NM_052909,p.R1105W|ENST00000283426,p.R1105W|uc003jak.2,p.R1105W	retained_intron, protein_coding	uc003jak.2	nonsynonymous SNV	exon16	c.C3313T	p.R1105W	SAWTDVIGRILWRQALKSRELRIQE	SAWTDVIGRILWWQALKSRELRIQE	9.0	6.0	-	-	4032_5:174192-174192 C>T_SAWTDVIGRILWWQALKSRELRIQE
17:73738722-73738722 C>G	1.0	4032	COLON	-	-	-	-	ITGB4	ENST00000339591,p.L948V|uc002jph.3,p.L948V|uc002jpj.3,p.L948V|ENST00000449880,p.L948V|NM_001005731,p.L948V|uc002jpi.4,p.L948V|ENST00000579662,p.L948V|NM_001005619,p.L948V|NM_000213,p.L948V|ENST00000450894,p.L948V|ENST00000200181,p.L948V|uc002jpg.3,p.L948V	retained_intron, protein_coding, processed_transcript	uc002jpj.3	nonsynonymous SNV	exon24	c.C2842G	p.L948V	QEGVELVDVRVPLFIRPEDDDEKQL	QEGVELVDVRVPVFIRPEDDDEKQL	10.0	7.0	-	-	4032_17:73738722-73738722 C>G_QEGVELVDVRVPVFIRPEDDDEKQL
14:24737797-24737797 T>C	1.0	4032	COLON	-	-	-	-	RABGGTA	ENST00000559974,p.N310S|ENST00000216840,p.N310S|NM_182836,p.N310S|ENST00000558376,p.N310S|uc001wof.4,p.N310S|ENST00000399409,p.N310S|uc001wog.4,p.N310S|NM_004581,p.N310S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, ambiguous_orf	uc001wog.4	nonsynonymous SNV	exon10	c.A929G	p.N310S	HVWLCDLPAASLNDQLPQHTFRVIW	HVWLCDLPAASLSDQLPQHTFRVIW	8.0	3.0	-	-	4032_14:24737797-24737797 T>C_HVWLCDLPAASLSDQLPQHTFRVIW
17:17119708-17119708 ->G	0.0	4032	COLON	-	-	ID=COSM1381204;OCCURENCE=1(large_intestine)	1	FLCN	uc002gra.4,p.H429fs|ENST00000285071,p.H429fs|NM_144997,p.H429fs	retained_intron, protein_coding	uc002gra.4	frameshift insertion	exon11	c.1285dupC	p.H429fs	FLGLSPHVQIPPHVLSSEFAVIVEV	FLGLSPHVQIPPPRALLRVCCHRGGPRSRTFHPPPCGV	10.0	9.0	-	-	4032_17:17119708-17119708 ->G_FLGLSPHVQIPPPRALLRVCCHRGGPRSRTFHPPPCGV
4:108953492-108953492 C>T	0.0	4032	COLON	0.01	-	-	-	HADH	NM_001184705,p.T240M|uc010ilx.3,p.T240M|ENST00000603302,p.T240M|ENST00000403312,p.T299M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ilx.3	nonsynonymous SNV	exon7	c.C719T	p.T240M	MEAIRLYERDFQTCGDSNSGLGFSL	MEAIRLYERDFQMCGDSNSGLGFSL	8.0	2.0	-	-	4032_4:108953492-108953492 C>T_MEAIRLYERDFQMCGDSNSGLGFSL
1:215792506-215792506 C>G	1.0	4032	COLON	-	-	-	-	KCTD3	uc010pub.2,p.P485A|uc001hks.3,p.P587A|ENST00000259154,p.P587A|NM_016121,p.P587A|uc009xdn.3,p.P311A	protein_coding, processed_transcript	uc010pub.2	nonsynonymous SNV	exon17	c.C1453G	p.P485A	MVNKSEDKDVGGPTEEELLKLLDQC	MVNKSEDKDVGGATEEELLKLLDQC	8.0	5.0	-	-	4032_1:215792506-215792506 C>G_MVNKSEDKDVGGATEEELLKLLDQC
1:215792506-215792506 C>G	1.0	4032	COLON	-	-	-	-	KCTD3	uc001hkt.3,p.P585A	protein_coding, processed_transcript	uc001hkt.3	nonsynonymous SNV	exon17	c.C1753G	p.P585A	MDMVNKSEDKGGPTEEELLKLLDQC	MDMVNKSEDKGGATEEELLKLLDQC	8.0	5.0	-	-	4032_1:215792506-215792506 C>G_MDMVNKSEDKGGATEEELLKLLDQC
20:35060205-35060205 C>T	0.0	4032	COLON	-	-	-	-	DLGAP4	NM_014902,p.R29C|ENST00000401952,p.R29C|uc002xff.3,p.R29C|ENST00000373907,p.R29C|ENST00000339266,p.R29C|uc010zvp.2,p.R29C|ENST00000373913,p.R29C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zvp.2	nonsynonymous SNV	exon2	c.C85T	p.R29C	DPPHEPLFAGTDRNPYLLSPTEAFA	DPPHEPLFAGTDCNPYLLSPTEAFA	9.0	1.0	unscreened	-	4032_20:35060205-35060205 C>T_DPPHEPLFAGTDCNPYLLSPTEAFA
1:156446868-156446868 G>A	1.0	4032	COLON	-	-	-	-	MEF2D	uc001fpb.4,p.P264L|uc001fpc.4,p.P264L|uc001fpd.4,p.P264L|ENST00000360595,p.P264L|ENST00000454816,p.P263L|NM_001271629,p.P264L|ENST00000353795,p.P218L|ENST00000340875,p.P263L|ENST00000348159,p.P264L|uc001fpe.2,p.P264L|ENST00000368240,p.P264L|NM_005920,p.P264L	protein_coding, processed_transcript	uc001fpe.2	nonsynonymous SNV	exon7	c.C791T	p.P264L	PPPPTHSTQLGAPSRKPDLRVITSQ	PPPPTHSTQLGALSRKPDLRVITSQ	8.0	5.0	-	-	4032_1:156446868-156446868 G>A_PPPPTHSTQLGALSRKPDLRVITSQ
14:75388144-75388144 C>T	1.0	4032	COLON	-	-	-	-	RPS6KL1	ENST00000557413,p.R34H|ENST00000354625,p.R34H|uc010tux.2,p.R34H|uc001xqy.1,p.R34H|NM_031464,p.R34H|ENST00000555647,p.R34H|ENST00000555009,p.R34H|ENST00000358328,p.R34H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tux.2	nonsynonymous SNV	exon2	c.G101A	p.R34H	ARSQAHVYLEQIRNRVALGVPDMTK	ARSQAHVYLEQIHNRVALGVPDMTK	6.0	5.0	-	-	4032_14:75388144-75388144 C>T_ARSQAHVYLEQIHNRVALGVPDMTK
6:41562689-41562689 G>A	1.0	4032	COLON	-	-	-	-	FOXP4	uc003oql.3,p.E540K|ENST00000307972,p.E540K|uc003oqm.3,p.E538K|NM_138457,p.E527K|ENST00000373060,p.E540K|NM_001012427,p.E538K|ENST00000373063,p.E527K|ENST00000373057,p.E538K|NM_001012426,p.E540K|ENST00000409208,p.E528K|uc003oqn.3,p.E527K	protein_coding	uc003oqn.3	nonsynonymous SNV	exon14	c.G1579A	p.E527K	VENVKGAVWTVDEREYQKRRPPKMT	VENVKGAVWTVDKREYQKRRPPKMT	6.0	8.0	-	-	4032_6:41562689-41562689 G>A_VENVKGAVWTVDKREYQKRRPPKMT
1:104093599-104093599 A>T	0.0	4032	COLON	-	-	-	-	RNPC3	NM_017619,p.K466N|uc010oul.1,p.K466N|ENST00000423855,p.K466N|ENST00000524631,p.K465N|ENST00000533099,p.K466N|uc010oum.1,p.K465N|uc010oun.2,p.K466N	retained_intron, protein_coding, nonsense_mediated_decay	uc010oun.2	nonsynonymous SNV	exon13	c.A1398T	p.K466N	MFDIRLMKEGRMKGQAFIGLPNEKA	MFDIRLMKEGRMNGQAFIGLPNEKA	8.0	4.0	-	-	4032_1:104093599-104093599 A>T_MFDIRLMKEGRMNGQAFIGLPNEKA
1:15361347-15361347 G>A	0.0	4032	COLON	-	-	-	-	KAZN	NM_015209,p.R174Q|uc001avm.4,p.R174Q|ENST00000400798,p.R80Q|ENST00000503743,p.R174Q|uc009vog.1,p.R174Q|ENST00000361144,p.R168Q|NM_001017999,p.R80Q|ENST00000422387,p.R174Q|NM_001018000,p.R168Q|NM_001018001,p.R80Q|ENST00000376030,p.R174Q|uc001avp.2,p.R80Q|ENST00000400797,p.R80Q|uc001avr.2,p.R77Q|uc001avo.2,p.R168Q|uc001avq.2,p.R80Q|NM_201628,p.R174Q|ENST00000376028,p.R80Q	retained_intron, protein_coding	uc009vog.1	nonsynonymous SNV	exon3	c.G521A	p.R174Q	LYATLESREEQLRDFIRNYEQHRKE	LYATLESREEQLQDFIRNYEQHRKE	6.0	1.0	unscreened	-	4032_1:15361347-15361347 G>A_LYATLESREEQLQDFIRNYEQHRKE
15:77241483-77241483 C>A	0.0	4032	COLON	-	-	-	-	RCN2	ENST00000320963,p.P310T|uc031qsx.1,p.P310T|NM_001271837,p.P310T|ENST00000394885,p.P292T|ENST00000394883,p.P191T|uc002bcd.3,p.P292T|NM_002902,p.P292T	retained_intron, protein_coding, nonsense_mediated_decay	uc031qsx.1	nonsynonymous SNV	exon8	c.C928A	p.P310T	DKKLSEEEILENPDLFLTSEATDYG	DKKLSEEEILENTDLFLTSEATDYG	9.0	2.0	-	-	4032_15:77241483-77241483 C>A_DKKLSEEEILENTDLFLTSEATDYG
17:7577124-7577124 C>T	1.0	4032	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_001126113,p.V272M|uc002gij.3,p.V233M|NM_001276696,p.V233M|NM_001126116,p.V140M|NM_001126115,p.V140M|ENST00000509690,p.V140M|uc010cnf.2,p.V113M|uc002gih.3,p.V272M|ENST00000455263,p.V272M|NM_001126112,p.V272M|uc010cng.2,p.V113M|NM_001276697,p.V113M|NM_001126118,p.V233M|NM_001126117,p.V140M|NM_001276760,p.V233M|ENST00000445888,p.V272M|NM_000546,p.V272M|ENST00000269305,p.V272M|NM_001276695,p.V233M|ENST00000420246,p.V272M|uc031qyq.1,p.V233M|NM_001276761,p.V233M|ENST00000359597,p.V272M|NM_001276699,p.V113M|NM_001276698,p.V113M|uc002gii.2,p.V113M|NM_001126114,p.V272M	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon7	c.G697A	p.V233M	SSGNLLGRNSFEVRVCACPGRDRRT	SSGNLLGRNSFEMRVCACPGRDRRT	8.0	9.0	-	-	4032_17:7577124-7577124 C>T_SSGNLLGRNSFEMRVCACPGRDRRT
X:32430296-32430296 ->A	0.0	4032	COLON	-	-	-	-	DMD	NM_004011,p.P11fs|uc004dcx.2,p.P11fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004dcx.2	frameshift insertion	exon1	c.30dupT	p.P11fs	MTEMILLIFFPAYFLNAVRRQKL	MTEMILLIFFSSLFP	7.0	10.0	unscreened	-	4032_X:32430296-32430296 ->A_MTEMILLIFFSSLFP
17:33750022-33750022 G>A	0.0	4032	COLON	-	-	-	-	SLFN12	ENST00000445092,p.T9M|uc002hjj.4,p.T9M|ENST00000304905,p.T9M|uc010cts.3,p.T9M|uc002hji.4,p.T9M|ENST00000447040,p.T9M|ENST00000394562,p.T9M|NM_001289009,p.T9M|ENST00000452764,p.T9M|NM_018042,p.T9M	retained_intron, protein_coding, processed_transcript	uc010cts.3	nonsynonymous SNV	exon2	c.C26T	p.T9M	MNISVDLETNYAELVLDVGRV	MNISVDLEMNYAELVLDVGRV	7.0	8.0	-	-	4032_17:33750022-33750022 G>A_MNISVDLEMNYAELVLDVGRV
16:81390594-81390596 GGA>-	0.0	4032	COLON	-	-	ID=COSM974091;OCCURENCE=1(endometrium)	-	GAN	NM_022041,p.280_280del|uc002fgo.3,p.280_280del	protein_coding, processed_transcript	uc002fgo.3	nonframeshift deletion	exon4	c.838_840del	p.280_280del	PRGYSECIVTVGGEERVSRKPTAAM	PRGYSECIVTVGEERVSRKPTAAMR	6.0	8.0	-	-	4032_16:81390594-81390596 GGA>-_PRGYSECIVTVGEERVSRKPTAAMR
22:38823987-38823987 C>T	0.0	4032	COLON	-	-	-	-	KCNJ4	ENST00000303592,p.V51M|NM_004981,p.V51M|uc021wpp.1,p.V51M|uc003avt.2,p.V51M|uc003avs.1,p.V51M|NM_152868,p.V51M	protein_coding	uc021wpp.1	nonsynonymous SNV	exon1	c.G151A	p.V51M	SQRYMADIFTTCVDTRWRYMLMIFS	SQRYMADIFTTCMDTRWRYMLMIFS	1.0	9.0	-	-	4032_22:38823987-38823987 C>T_SQRYMADIFTTCMDTRWRYMLMIFS
1:185144045-185144045 G>T	0.0	4032	COLON	-	-	-	-	SWT1	ENST00000367500,p.D256Y|NM_017673,p.D256Y|NM_001105518,p.D256Y|uc001grh.4,p.D256Y|ENST00000367501,p.D256Y|uc001grg.4,p.D256Y	protein_coding	uc001grh.4	nonsynonymous SNV	exon5	c.G766T	p.D256Y	LQKLVEENVFNIDSNNSKTKQEERE	LQKLVEENVFNIYSNNSKTKQEERE	7.0	2.0	-	-	4032_1:185144045-185144045 G>T_LQKLVEENVFNIYSNNSKTKQEERE
1:228403353-228403353 T>C	0.0	4032	COLON	-	-	-	-	OBSCN	uc009xez.2,p.S640P|NM_001271223,p.S640P|ENST00000570156,p.S640P|uc001hsq.2,p.S640P|NM_001098623,p.S640P|ENST00000284548,p.S640P|uc001hsn.4,p.S640P|ENST00000422127,p.S640P|NM_052843,p.S640P	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon6	c.T1918C	p.S640P	GEVTFSVDLTVASAGEWFLDGQALK	GEVTFSVDLTVAPAGEWFLDGQALK	8.0	9.0	-	-	4032_1:228403353-228403353 T>C_GEVTFSVDLTVAPAGEWFLDGQALK
14:55510012-55510012 C>G	0.0	4032	COLON	-	-	-	-	SOCS4	uc001xbo.3,p.R85G|NM_199421,p.R85G|uc021rti.1,p.R85G|uc001xbp.3,p.R85G|NM_080867,p.R85G|ENST00000555846,p.R85G|ENST00000339298,p.R85G|ENST00000395472,p.R85G	protein_coding, processed_transcript	uc021rti.1	nonsynonymous SNV	exon1	c.C253G	p.R85G	SIELDLDHSCGHRFLGRSLKQKLQD	SIELDLDHSCGHGFLGRSLKQKLQD	7.0	3.0	unscreened	-	4032_14:55510012-55510012 C>G_SIELDLDHSCGHGFLGRSLKQKLQD
12:113496216-113496216 C>G	0.0	4032	COLON	-	-	-	-	DTX1	ENST00000257600,p.I73M|NM_004416,p.I73M|uc001tuk.1,p.I73M	protein_coding, processed_transcript	uc001tuk.1	nonsynonymous SNV	exon1	c.C219G	p.I73M	VLGQVDAQLVPYIIDLQSMHQFRQD	VLGQVDAQLVPYMIDLQSMHQFRQD	5.0	6.0	-	-	4032_12:113496216-113496216 C>G_VLGQVDAQLVPYMIDLQSMHQFRQD
3:130116598-130116598 C>T	0.0	4032	COLON	-	-	ID=COSM1484597;OCCURENCE=1(breast)	-	COL6A5	uc010htj.2,p.A1247V|ENST00000432398,p.A1247V|NM_001278298,p.A1247V|uc010htk.2,p.A1247V|ENST00000265379,p.A1247V|NM_153264,p.A1247V|ENST00000312481,p.A1247V	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon9	c.C3740T	p.A1247V	SCGAGTEAQVSLAFKVNSDQGFPAK	SCGAGTEAQVSLVFKVNSDQGFPAK	1.0	9.0	-	-	4032_3:130116598-130116598 C>T_SCGAGTEAQVSLVFKVNSDQGFPAK
3:431058-431058 C>T	0.0	4032	COLON	-	-	-	-	CHL1	uc003bow.2,p.P775S|NM_006614,p.P791S|uc003bot.3,p.P791S|NM_001253387,p.P775S|uc003bou.3,p.P775S|ENST00000256509,p.P791S|NM_001253388,p.P791S|uc011asi.2,p.P791S|ENST00000397491,p.P775S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011asi.2	nonsynonymous SNV	exon18	c.C2371T	p.P791S	ETVTNHTLRVMTPAVYAPYDVKVQA	ETVTNHTLRVMTSAVYAPYDVKVQA	3.0	4.0	-	-	4032_3:431058-431058 C>T_ETVTNHTLRVMTSAVYAPYDVKVQA
19:41220187-41220187 G>A	0.0	4032	COLON	-	-	-	-	ADCK4	ENST00000601304,p.P73L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000601304	nonsynonymous SNV	exon2	c.C218T	p.P73L	RAREARPRKTPRPQTLSPFPS	RAREARPRKTPRLQTLSPFPS	7.0	1.0	unscreened	-	4032_19:41220187-41220187 G>A_RAREARPRKTPRLQTLSPFPS
2:163075629-163075629 G>A	0.0	4032	COLON	-	-	-	-	FAP	NM_004460,p.T184I|uc010fpe.1,p.T151I|NM_001291807,p.T159I|uc010zct.2,p.T159I|ENST00000443424,p.T159I|ENST00000188790,p.T184I|uc002ucd.3,p.T184I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zct.2	nonsynonymous SNV	exon7	c.C476T	p.T159I	LKQRPGDPPFQITFNGRENKIFNGI	LKQRPGDPPFQIIFNGRENKIFNGI	7.0	7.0	-	-	4032_2:163075629-163075629 G>A_LKQRPGDPPFQIIFNGRENKIFNGI
19:51205817-51205817 A>C	0.0	4032	COLON	-	-	-	-	SHANK1	ENST00000359082,p.S552A|ENST00000293441,p.S552A|NM_016148,p.S552A|ENST00000391814,p.S552A|uc002psx.1,p.S552A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002psx.1	nonsynonymous SNV	exon11	c.T1654G	p.S552A	SLGSRGRRRKLYSAVPGRSFMAVKS	SLGSRGRRRKLYAAVPGRSFMAVKS	2.0	1.0	unscreened	-	4032_19:51205817-51205817 A>C_SLGSRGRRRKLYAAVPGRSFMAVKS
15:78474852-78474852 C>T	0.0	4032	COLON	-	-	-	-	ACSBG1	uc010umw.2,p.G280S|uc002bdh.3,p.G284S|ENST00000258873,p.G284S|ENST00000541759,p.G42S|ENST00000560817,p.G42S|uc010umx.2,p.G42S|uc010umy.2,p.G177S|NM_015162,p.G284S|NM_001199377,p.G280S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010umy.2	nonsynonymous SNV	exon6	c.G529A	p.G177S	QPNQCCVLVYTSGTTGNPKGVMLSQ	QPNQCCVLVYTSSTTGNPKGVMLSQ	9.0	10.0	-	-	4032_15:78474852-78474852 C>T_QPNQCCVLVYTSSTTGNPKGVMLSQ
10:46159120-46159120 A>C	0.0	4032	COLON	-	-	-	-	ZFAND4	ENST00000374371,p.F18L|uc001jcm.4,p.F18L|NM_174890,p.F18L|uc001jcp.4,p.F18L|uc001jcr.2,p.F18L|uc001jco.4,p.F18L|ENST00000335258,p.F18L|ENST00000344646,p.F18L|ENST00000465407,p.F18L|NM_001128324,p.F18L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001jcr.2	nonsynonymous SNV	exon2	c.T54G	p.F18L	EPPFFNDDNMGPFYYRLHFCDTMEL	EPPFFNDDNMGPLYYRLHFCDTMEL	6.0	4.0	-	-	4032_10:46159120-46159120 A>C_EPPFFNDDNMGPLYYRLHFCDTMEL
3:9792037-9792037 T>A	0.0	4032	COLON	-	-	-	-	OGG1	NM_016826,p.W23R|uc003bsj.3,p.W23R|ENST00000339511,p.W23R|ENST00000349503,p.W23R|uc003bsh.3,p.W23R|uc003bsn.3,p.W23R|ENST00000425665,p.W23R|NM_016828,p.W23R|uc003bso.3,p.W23R|NM_002542,p.W23R|NM_016821,p.W23R|NM_016827,p.W23R|ENST00000302036,p.W23R|ENST00000449570,p.W23R|uc003bsm.3,p.W23R|NM_016829,p.W23R|uc003bsl.3,p.W23R|NM_016820,p.W23R|ENST00000302003,p.W23R|ENST00000344629,p.W23R|NM_016819,p.W23R|ENST00000302008,p.W23R|ENST00000383826,p.W23R|uc003bsi.3,p.W23R|uc003bsk.3,p.W23R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003bso.3	nonsynonymous SNV	exon1	c.T67A	p.W23R	MGHRTLASTPALWASIPCPRSELRL	MGHRTLASTPALRASIPCPRSELRL	6.0	4.0	-	-	4032_3:9792037-9792037 T>A_MGHRTLASTPALRASIPCPRSELRL
X:24830868-24830868 G>A	1.0	4032	COLON	-	-	-	-	POLA1	NM_016937,p.A1056T|uc004dbl.3,p.A1056T|ENST00000379059,p.A1056T|ENST00000379068,p.A1062T	protein_coding, processed_transcript	uc004dbl.3	nonsynonymous SNV	exon29	c.G3166A	p.A1056T	FKSLLLLKKKKYAALVVEPTSDGNY	FKSLLLLKKKKYTALVVEPTSDGNY	7.0	10.0	-	-	4032_X:24830868-24830868 G>A_FKSLLLLKKKKYTALVVEPTSDGNY
19:41220187-41220187 G>A	0.0	4032	COLON	-	-	-	-	ADCK4	ENST00000599643,p.P73L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000599643	nonsynonymous SNV	exon3	c.C218T	p.P73L	RAREARPRKTPRPQLSDRSRERKTT	RAREARPRKTPRLQLSDRSRERKTT	7.0	1.0	unscreened	-	4032_19:41220187-41220187 G>A_RAREARPRKTPRLQLSDRSRERKTT
19:3179235-3179235 C>T	1.0	4032	COLON	-	-	ID=COSM1392342,COSM1392343;OCCURENCE=1(large_intestine)	-	S1PR4	NM_003775,p.R149W|ENST00000246115,p.R149W|uc002lxg.3,p.R149W	protein_coding, processed_transcript	uc002lxg.3	nonsynonymous SNV	exon1	c.C445T	p.R149W	LFTAGERFATMVRPVAESGATKTSR	LFTAGERFATMVWPVAESGATKTSR	2.0	8.0	-	-	4032_19:3179235-3179235 C>T_LFTAGERFATMVWPVAESGATKTSR
11:64419555-64419555 G>A	0.0	4032	COLON	-	-	-	-	NRXN2	ENST00000377551,p.R830W|uc001oaq.3,p.R497W|NM_015080,p.R830W|uc001oas.3,p.R790W|uc021qkx.1,p.R790W|ENST00000377559,p.R790W|NM_138732,p.R790W|ENST00000409571,p.R823W|ENST00000265459,p.R830W|uc021qkw.1,p.R830W	retained_intron, protein_coding, processed_transcript	uc021qkx.1	nonsynonymous SNV	exon11	c.C2368T	p.R790W	LNDNEWHTVRVVRRGKSLQLSVDNV	LNDNEWHTVRVVWRGKSLQLSVDNV	6.0	5.0	-	-	4032_11:64419555-64419555 G>A_LNDNEWHTVRVVWRGKSLQLSVDNV
7:134730252-134730252 C>T	0.0	4032	COLON	0.0037	-	-	-	AGBL3	NM_178563,p.T552M|ENST00000458078,p.T526M|ENST00000275763,p.T552M|uc011kpw.2,p.T552M|ENST00000436302,p.T552M|ENST00000435976,p.T552M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kpw.2	nonsynonymous SNV	exon10	c.C1655T	p.T552M	STLGNKRGTHFSTKDLESMGYHFCD	STLGNKRGTHFSMKDLESMGYHFCD	4.0	1.0	-	-	4032_7:134730252-134730252 C>T_STLGNKRGTHFSMKDLESMGYHFCD
6:51613046-51613046 G>A	0.0	4032	COLON	-	-	ID=COSM95006,COSM1445067;OCCURENCE=1(ovary),1(large_intestine)	-	PKHD1	uc010jzn.1,p.A1106V|ENST00000340994,p.A3123V|uc003pah.1,p.A3123V|NM_170724,p.A3123V|uc003pai.3,p.A3123V|ENST00000371117,p.A3123V|NM_138694,p.A3123V	protein_coding	uc010jzn.1	nonsynonymous SNV	exon22	c.C3317T	p.A1106V	CSSCELLWSDNVAHSSLHGLHLYKE	CSSCELLWSDNVVHSSLHGLHLYKE	5.0	7.0	-	-	4032_6:51613046-51613046 G>A_CSSCELLWSDNVVHSSLHGLHLYKE
19:15905250-15905250 G>A	0.0	4032	COLON	-	-	ID=COSM1391210;OCCURENCE=1(large_intestine)	-	OR10H5	NM_001004466,p.R131H|uc010xos.2,p.R131H|ENST00000308940,p.R131H	protein_coding	uc010xos.2	nonsynonymous SNV	exon1	c.G392A	p.R131H	GYDRYVAICHPLRYNVLMSLRGCTC	GYDRYVAICHPLHYNVLMSLRGCTC	1.0	5.0	-	-	4032_19:15905250-15905250 G>A_GYDRYVAICHPLHYNVLMSLRGCTC
5:33461102-33461102 T>C	1.0	4032	COLON	-	-	-	-	TARS	NM_152295,p.L449P|ENST00000414361,p.L328P|uc011cod.3,p.L328P|uc031sja.1,p.L449P|uc011coc.3,p.L482P|uc003jhy.4,p.L449P|ENST00000265112,p.L449P|NM_001258438,p.L482P|uc003jhz.4,p.L345P|uc010iup.2,p.L390P|ENST00000455217,p.L482P|NM_001258437,p.L449P|ENST00000502553,p.L449P|ENST00000541634,p.L345P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sja.1	nonsynonymous SNV	exon13	c.T1346C	p.L449P	FGVLHRNELSGALTGLTRVRRFQQD	FGVLHRNELSGAPTGLTRVRRFQQD	10.0	8.0	-	-	4032_5:33461102-33461102 T>C_FGVLHRNELSGAPTGLTRVRRFQQD
19:54754838-54754838 ->G	0.0	4032	COLON	-	rs11375503	-	-	LILRB5	ENST00000450632,p.P599fs|uc010yer.1,p.P599fs	retained_intron, protein_coding	uc010yer.1	frameshift insertion	exon13	c.1796dupC	p.P599fs	ERVLSSPGPQASPPPPRSLPLTLPR	ERVLSSPGPQASPTPTTFLTSHSPPLQAAASEAPQDV	4.0	5.0	unscreened	-	4032_19:54754838-54754838 ->G_ERVLSSPGPQASPTPTTFLTSHSPPLQAAASEAPQDV
11:27016543-27016543 G>T	0.0	4032	COLON	-	-	-	-	FIBIN	uc001mrd.3,p.R157M|NM_203371,p.R157M|ENST00000318627,p.R157M	protein_coding	uc001mrd.3	nonsynonymous SNV	exon1	c.G470T	p.R157M	KQGQEQDSRQESRLNEDFLGMLVHT	KQGQEQDSRQESMLNEDFLGMLVHT	3.0	8.0	-	-	4032_11:27016543-27016543 G>T_KQGQEQDSRQESMLNEDFLGMLVHT
19:41220187-41220187 G>A	0.0	4032	COLON	-	-	-	-	ADCK4	uc002ooq.2,p.P73L|uc002oor.2,p.P73L|ENST00000594490,p.P73L|ENST00000594084,p.P73L|ENST00000600707,p.P73L|NM_024876,p.P73L|ENST00000450541,p.P73L|NM_001142555,p.P73L|uc002oos.2,p.P73L|ENST00000594720,p.P73L|ENST00000596357,p.P73L|ENST00000324464,p.P73L|ENST00000243583,p.P73L|ENST00000601967,p.P73L	retained_intron, protein_coding, nonsense_mediated_decay	uc002oos.2	nonsynonymous SNV	exon3	c.C218T	p.P73L	RAREARPRKTPRPQLSDRSRERKVP	RAREARPRKTPRLQLSDRSRERKVP	7.0	1.0	unscreened	-	4032_19:41220187-41220187 G>A_RAREARPRKTPRLQLSDRSRERKVP
3:130188040-130188040 T>C	0.0	4032	COLON	-	-	-	-	COL6A5	ENST00000265379,p.F2398L|NM_153264,p.F2398L|ENST00000512482,p.F233L|uc021xdz.1,p.F437L|ENST00000373157,p.F341L|ENST00000432398,p.F2398L|uc010htj.2,p.F2398L|NM_001278298,p.F2398L|ENST00000312481,p.F2398L|uc010htk.2,p.F2398L	protein_coding, nonsense_mediated_decay	uc021xdz.1	nonsynonymous SNV	exon4	c.T1309C	p.F437L	IGHALQWTIDNVFVGTPNLRKNKVI	IGHALQWTIDNVLVGTPNLRKNKVI	1.0	4.0	-	-	4032_3:130188040-130188040 T>C_IGHALQWTIDNVLVGTPNLRKNKVI
7:100642455-100642455 G>A	1.0	4032	COLON	-	-	-	-	MUC12	ENST00000379442,p.A3014T|uc003uxo.3,p.A2871T|NM_001164462,p.A2871T|ENST00000536621,p.A2871T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G8611A	p.A2871T	TSPRSPDATLSPATTTSSGVSEESS	TSPRSPDATLSPTTTTSSGVSEESS	9.0	3.0	-	-	4032_7:100642455-100642455 G>A_TSPRSPDATLSPTTTTSSGVSEESS
17:38253593-38253593 A>-	0.0	4032	COLON	-	-	-	-	NR1D1	ENST00000246672,p.L32fs|uc002htz.3,p.L32fs|NM_021724,p.L32fs	protein_coding	uc002htz.3	frameshift deletion	exon2	c.95delT	p.L32fs	SGSSPSRTSPESLYSDNSNGSFQSL	SGSSPSRTSPESPIVTTPMAASSP	6.0	1.0	unscreened	-	4032_17:38253593-38253593 A>-_SGSSPSRTSPESPIVTTPMAASSP
11:1265525-1265525 C>T	0.0	4032	COLON	-	-	-	-	MUC5B	uc001lta.3,p.A2472V|ENST00000447027,p.A2475V|ENST00000529681,p.A2472V|NM_002458,p.A2472V	retained_intron, protein_coding, processed_transcript	uc001lta.3	nonsynonymous SNV	exon31	c.C7415T	p.A2472V	GTTWILTEPSTTATVTVPTGSTATA	GTTWILTEPSTTVTVTVPTGSTATA	1.0	8.0	-	-	4032_11:1265525-1265525 C>T_GTTWILTEPSTTVTVTVPTGSTATA
19:17397498-17397501 TGTT>-	0.0	4032	COLON	-	-	-	-	ANKLE1	ENST00000598347,p.C590fs|uc010xpn.1,p.C644fs|NM_001278444,p.C644fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010xpn.1	frameshift deletion	exon8	c.1930_1933del	p.C644fs	CVCVCVCVCVCVCLCVCVCV	CVCVCVCVCVCVCVCVCVC	1.0	10.0	unscreened	-	4032_19:17397498-17397501 TGTT>-_CVCVCVCVCVCVCVCVCVC
6:31129428-31129428 G>A	0.0	4032	COLON	-	-	-	-	TCF19	ENST00000376257,p.G148D|NM_007109,p.G148D|uc003nst.3,p.G148D|NM_001077511,p.G148D|uc003nss.3,p.G148D|ENST00000376255,p.G148D|ENST00000542218,p.G68D	protein_coding, processed_transcript	uc003nst.3	nonsynonymous SNV	exon3	c.G443A	p.G148D	IPRSRGEARVGAGFRPMLPSQGAPQ	IPRSRGEARVGADFRPMLPSQGAPQ	6.0	6.0	-	-	4032_6:31129428-31129428 G>A_IPRSRGEARVGADFRPMLPSQGAPQ
1:177247737-177247737 C>T	0.0	4032	COLON	-	-	-	-	BRINP2	NM_021165,p.R351W|ENST00000361539,p.R351W|uc010pna.1,p.R101W|uc001glg.3,p.R246W|uc001glf.3,p.R351W	protein_coding, processed_transcript	uc010pna.1	nonsynonymous SNV	exon6	c.C301T	p.R101W	EFQALLKRLPDDRFLNSTAISQFWA	EFQALLKRLPDDWFLNSTAISQFWA	3.0	3.0	-	-	4032_1:177247737-177247737 C>T_EFQALLKRLPDDWFLNSTAISQFWA
1:152692095-152692095 G>A	0.0	4032	COLON	-	-	-	-	C1orf68	NM_001024679,p.C33Y|ENST00000368775,p.C33Y|uc010pdu.2,p.C33Y	protein_coding	uc010pdu.2	nonsynonymous SNV	exon1	c.G98A	p.C33Y	GAGQGSNGASVKCPVPCQTQTVCVT	GAGQGSNGASVKYPVPCQTQTVCVT	1.0	4.0	-	-	4032_1:152692095-152692095 G>A_GAGQGSNGASVKYPVPCQTQTVCVT
8:139606369-139606369 ->G	0.0	4032	COLON	-	-	-	-	COL22A1	ENST00000303045,p.P1502fs|NM_152888,p.P1502fs|uc011ljo.2,p.P782fs|ENST00000435777,p.P1482fs|uc003yvd.3,p.P1502fs	protein_coding, processed_transcript	uc011ljo.2	frameshift insertion	exon45	c.2345dupC	p.P782fs	AYMKSSQGRPGPPGPPGKDGLPGRA	AYMKSSQGRPGPPRAPWKRWASRPGRPHGGARSSWAGGSGRTLWTHRSQR	2.0	10.0	-	-	4032_8:139606369-139606369 ->G_AYMKSSQGRPGPPRAPWKRWASRPGRPHGGARSSWAGGSGRTLWTHRSQR
1:247163281-247163281 C>T	0.0	4032	COLON	-	-	-	-	ZNF695	ENST00000465049,p.M33I|uc001icc.3,p.M33I|ENST00000479214,p.M33I|ENST00000474541,p.M33I	protein_coding, nonsense_mediated_decay	uc001icc.3	nonsynonymous SNV	exon2	c.G99A	p.M33I	LDPAQRSLYRDVMLENYRNLISLGL	LDPAQRSLYRDVILENYRNLISLGL	4.0	4.0	-	-	4032_1:247163281-247163281 C>T_LDPAQRSLYRDVILENYRNLISLGL
5:140773650-140773650 G>T	0.0	4032	COLON	-	-	-	-	PCDHGA8	ENST00000398604,p.A424S|uc003lkd.2,p.A424S|NM_014004,p.A424S|NM_032088,p.A424S|uc003lkb.4,p.A424S	protein_coding	uc003lkd.2	nonsynonymous SNV	exon1	c.G1270T	p.A424S	RENVSIYNITVMASDLGTPPLSTET	RENVSIYNITVMSSDLGTPPLSTET	4.0	2.0	-	-	4032_5:140773650-140773650 G>T_RENVSIYNITVMSSDLGTPPLSTET
1:247163281-247163281 C>T	0.0	4032	COLON	-	-	-	-	ZNF695	NM_020394,p.M33I|uc001ibx.3,p.M33I|ENST00000487338,p.M33I|NM_001204221,p.M33I|ENST00000366504,p.M33I|uc009xgu.3,p.M33I|ENST00000339986,p.M33I|ENST00000491337,p.M33I	protein_coding, nonsense_mediated_decay	uc009xgu.3	nonsynonymous SNV	exon2	c.G99A	p.M33I	LDPAQRSLYRDVMLENYRNLISLGE	LDPAQRSLYRDVILENYRNLISLGE	4.0	4.0	-	-	4032_1:247163281-247163281 C>T_LDPAQRSLYRDVILENYRNLISLGE
2:179576919-179576919 G>A	0.0	4032	COLON	-	-	-	-	TTN	ENST00000342992,p.P7969L|NM_133378,p.P7969L|uc021vsy.2,p.P7969L|ENST00000591111,p.P8896L|uc031rqd.1,p.P8896L|NM_001256850,p.P8896L|uc031rqc.1,p.P9213L|uc002umz.1,p.P4630L|ENST00000589042,p.P9213L|NM_001267550,p.P9213L	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon94	c.C26687T	p.P8896L	ILEPPYFVKQLEPVKVSVGDSASLQ	ILEPPYFVKQLELVKVSVGDSASLQ	4.0	8.0	-	-	4032_2:179576919-179576919 G>A_ILEPPYFVKQLELVKVSVGDSASLQ
8:52732972-52732972 ->T	1.0	4032	COLON	-	-	-	-	PCMTD1	NM_001286783,p.I162fs|NM_001286782,p.I262fs|NM_052937,p.I338fs|uc010lya.3,p.I262fs|ENST00000360540,p.I338fs|ENST00000522514,p.I338fs|uc011ldm.2,p.I208fs|ENST00000544451,p.I262fs|uc011ldn.2,p.I150fs|uc003xqx.4,p.I338fs	retained_intron, protein_coding, processed_transcript	uc011ldn.2	frameshift insertion	exon6	c.448dupA	p.I150fs	PEEPPQNLLREKIMKLPLPESLKAY	PEEPPQNLLREKNHEAAPP	10.0	1.0	unscreened	-	4032_8:52732972-52732972 ->T_PEEPPQNLLREKNHEAAPP
1:120283118-120283118 G>A	0.0	4032	COLON	-	-	-	-	PHGDH	uc009whm.3,p.G250E|uc001eib.3,p.G318E|uc001ehz.3,p.G352E|ENST00000369409,p.G352E|NM_006623,p.G352E|ENST00000369407,p.G318E	protein_coding, processed_transcript	uc009whm.3	nonsynonymous SNV	exon11	c.G749A	p.G250E	GTLMRAWAGSPKGTIQVITQGTSLK	GTLMRAWAGSPKETIQVITQGTSLK	8.0	1.0	unscreened	-	4032_1:120283118-120283118 G>A_GTLMRAWAGSPKETIQVITQGTSLK
17:73738722-73738722 C>G	1.0	4032	COLON	-	-	-	-	ITGB4	uc010dgp.1,p.P960R	retained_intron, protein_coding, processed_transcript	uc010dgp.1	nonsynonymous SNV	exon24	c.C2879G	p.P960R	PGGRGAGGRTGAPLYPA	PGGRGAGGRTGARLYPA	10.0	7.0	-	-	4032_17:73738722-73738722 C>G_PGGRGAGGRTGARLYPA
3:194080647-194080647 G>A	0.0	4032	COLON	-	-	-	-	LRRC15	uc003ftt.3,p.R382C|ENST00000439944,p.R382C|ENST00000347624,p.R376C|NM_130830,p.R376C|NM_001135057,p.R382C|ENST00000428839,p.R382C|uc021xiy.1,p.R376C|uc003ftu.3,p.R376C	protein_coding	uc021xiy.1	nonsynonymous SNV	exon1	c.C1126T	p.R376C	LANLQNISLQNNRLRQLPGNIFANV	LANLQNISLQNNCLRQLPGNIFANV	2.0	9.0	-	-	4032_3:194080647-194080647 G>A_LANLQNISLQNNCLRQLPGNIFANV
19:48042984-48042984 C>A	0.0	4032	COLON	-	-	-	-	ZNF541	NM_001277075,p.R925L|ENST00000391901,p.R925L|uc002phg.5,p.R925L	protein_coding, processed_transcript	uc002phg.5	nonsynonymous SNV	exon6	c.G2774T	p.R925L	VVPQSIPVVPVTRHIGSMAMGQEKD	VVPQSIPVVPVTLHIGSMAMGQEKD	3.0	6.0	-	-	4032_19:48042984-48042984 C>A_VVPQSIPVVPVTLHIGSMAMGQEKD
20:37464641-37464641 G>T	0.0	4032	COLON	-	-	-	-	PPP1R16B	uc010ggc.3,p.A25S|NM_001172735,p.A25S|ENST00000299824,p.A25S|NM_015568,p.A25S|ENST00000373331,p.A25S|uc002xje.3,p.A25S	protein_coding, processed_transcript	uc010ggc.3	nonsynonymous SNV	exon2	c.G73T	p.A25S	LLEKVPTLERLRAAQKRRAQQLKKW	LLEKVPTLERLRSAQKRRAQQLKKW	6.0	1.0	unscreened	-	4032_20:37464641-37464641 G>T_LLEKVPTLERLRSAQKRRAQQLKKW
14:55510030-55510030 C>G	0.0	4032	COLON	-	-	-	-	SOCS4	uc001xbp.3,p.L91V|uc001xbo.3,p.L91V|NM_080867,p.L91V|NM_199421,p.L91V|ENST00000555846,p.L91V|ENST00000339298,p.L91V|ENST00000395472,p.L91V|uc021rti.1,p.L91V	protein_coding, processed_transcript	uc021rti.1	nonsynonymous SNV	exon1	c.C271G	p.L91V	DHSCGHRFLGRSLKQKLQDAVGQCF	DHSCGHRFLGRSVKQKLQDAVGQCF	7.0	2.0	unscreened	-	4032_14:55510030-55510030 C>G_DHSCGHRFLGRSVKQKLQDAVGQCF
6:32548632-32548632 T>A	1.0	4032	COLON	-	rs78817721	-	-	HLA-DRB1	NM_002124,p.R218S|ENST00000360004,p.R218S|uc011dqc.1,p.R48S|uc003obp.4,p.R218S	protein_coding	uc011dqc.1	nonsynonymous SNV	exon3	c.A144T	p.R48S	HPSVTSPLTVEWRARSESAQSKMLS	HPSVTSPLTVEWSARSESAQSKMLS	10.0	7.0	-	-	4032_6:32548632-32548632 T>A_HPSVTSPLTVEWSARSESAQSKMLS
19:48042984-48042984 C>A	0.0	4032	COLON	-	-	-	-	ZNF541	ENST00000314121,p.R925L|uc010xyt.3,p.R925L	protein_coding, processed_transcript	uc010xyt.3	nonsynonymous SNV	exon6	c.G2774T	p.R925L	VVPQSIPVVPVTRHIGSMAMMEWCS	VVPQSIPVVPVTLHIGSMAMMEWCS	3.0	6.0	-	-	4032_19:48042984-48042984 C>A_VVPQSIPVVPVTLHIGSMAMMEWCS
8:113318295-113318295 G>A	0.0	4032	COLON	-	-	-	2	CSMD3	NM_198123,p.T2671I|ENST00000343508,p.T2631I|ENST00000297405,p.T2671I|NM_052900,p.T2567I|ENST00000455883,p.T2567I|ENST00000352409,p.T2601I|NM_198124,p.T2631I|uc003ynt.3,p.T2631I|uc011lhx.2,p.T2567I|uc003yns.3,p.T1873I|uc003ynu.3,p.T2671I|ENST00000339701,p.T1941I	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon50	c.C7700T	p.T2567I	NDGYRLSSKELTTAVCQSDGTWSNH	NDGYRLSSKELTIAVCQSDGTWSNH	1.0	4.0	-	-	4032_8:113318295-113318295 G>A_NDGYRLSSKELTIAVCQSDGTWSNH
7:42005631-42005631 C>T	0.0	4032	COLON	-	-	-	-	GLI3	uc011kbh.2,p.E1014K|NM_000168,p.E1014K|ENST00000395925,p.E1014K|uc011kbg.2,p.E955K	retained_intron, protein_coding, processed_transcript	uc011kbh.2	nonsynonymous SNV	exon15	c.G3040A	p.E1014K	VRRASDPVRTGSEGLALPRVPRFSS	VRRASDPVRTGSKGLALPRVPRFSS	6.0	2.0	-	-	4032_7:42005631-42005631 C>T_VRRASDPVRTGSKGLALPRVPRFSS
20:60498678-60498678 G>A	0.0	4032	COLON	-	-	-	-	CDH4	uc002ybn.2,p.R515H|uc002ybr.2,p.R478H|ENST00000360469,p.R515H|NM_001794,p.R515H|NM_001252339,p.R441H|ENST00000543233,p.R441H|uc002ybp.2,p.R441H|NM_001252338,p.R478H	protein_coding	uc002ybr.2	nonsynonymous SNV	exon9	c.G1433A	p.R478H	EAPYFPSNHKLIRLEEGVPPGTVLT	EAPYFPSNHKLIHLEEGVPPGTVLT	3.0	2.0	-	-	4032_20:60498678-60498678 G>A_EAPYFPSNHKLIHLEEGVPPGTVLT
19:48042984-48042984 C>A	0.0	4032	COLON	-	-	-	-	ZNF541	ENST00000448976,p.R925L|uc010eli.4,p.R739L	protein_coding, processed_transcript	uc010eli.4	nonsynonymous SNV	exon4	c.G2216T	p.R739L	VVPQSIPVVPVTRHIGSMAMIQTKT	VVPQSIPVVPVTLHIGSMAMIQTKT	3.0	6.0	-	-	4032_19:48042984-48042984 C>A_VVPQSIPVVPVTLHIGSMAMIQTKT
X:66765817-66765817 C>T	0.0	4032	COLON	-	-	-	1	AR	ENST00000504326,p.P277S|NM_000044,p.P277S|ENST00000514029,p.P277S|ENST00000374690,p.P277S|uc011mpd.2,p.P277S|uc004dwu.2,p.P277S|uc011mpf.1,p.P277S|ENST00000396044,p.P277S|uc022byk.1,p.P277S	protein_coding, processed_transcript, nonsense_mediated_decay	uc022byk.1	nonsynonymous SNV	exon1	c.C829T	p.P277S	GDCMYAPLLGVPPAVRPTPCAPLAE	GDCMYAPLLGVPSAVRPTPCAPLAE	3.0	2.0	-	-	4032_X:66765817-66765817 C>T_GDCMYAPLLGVPSAVRPTPCAPLAE
2:215674254-215674268 TCCTCGGCTGCCGGT>-	0.0	4032	COLON	-	-	-	1	BARD1	ENST00000260947,p.9_14del|uc021vwi.1,p.9_14del|NM_001282543,p.9_14del|NM_001282548,p.9_14del|ENST00000421162,p.9_14del|uc021vwg.1,p.9_14del|NM_001282549,p.9_14del|ENST00000455743,p.9_14del|NM_000465,p.9_14del|NM_001282545,p.9_14del|uc021vwh.1,p.9_14del|uc002veu.2,p.9_14del|uc021vwe.1,p.9_14del|uc021vwj.1,p.9_14del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vwj.1	nonframeshift deletion	exon1	c.26_40del	p.9_14del	MPDNRQPRNRQPRIRSGNEPR	MPDNRQPRIRSGNEPRSAPAM	6.0	2.0	-	-	4032_2:215674254-215674268 TCCTCGGCTGCCGGT>-_MPDNRQPRIRSGNEPRSAPAM
5:154173254-154173254 A>C	1.0	4032	COLON	-	-	-	-	LARP1	ENST00000523163,p.H55P	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000523163	nonsynonymous SNV	exon2	c.A164C	p.H55P	LASRPTRPPEPRHIPANRGEIKAHF	LASRPTRPPEPRPIPANRGEIKAHF	10.0	7.0	-	-	4032_5:154173254-154173254 A>C_LASRPTRPPEPRPIPANRGEIKAHF
5:154173254-154173254 A>C	1.0	4032	COLON	-	-	-	-	LARP1	uc003lvo.4,p.H203P|NM_015315,p.H203P|uc021ygi.1,p.H280P|ENST00000518297,p.H280P|ENST00000336314,p.H203P|uc021ygh.2,p.H75P|ENST00000524248,p.H75P|ENST00000519931,p.H75P|uc010jie.1,p.H75P	retained_intron, protein_coding, nonsense_mediated_decay	uc021ygi.1	nonsynonymous SNV	exon5	c.A839C	p.H280P	LASRPTRPPEPRHIPANRGEIKGSE	LASRPTRPPEPRPIPANRGEIKGSE	10.0	7.0	-	-	4032_5:154173254-154173254 A>C_LASRPTRPPEPRPIPANRGEIKGSE
18:45567391-45567391 C>T	0.0	4032	COLON	-	-	-	-	ZBTB7C	uc010dog.1,p.D30N|uc010dok.1,p.D79N|ENST00000332053,p.D30N|uc010doh.1,p.D39N|ENST00000590800,p.D30N|ENST00000590437,p.D30N|uc010dou.1,p.D39N|uc010doo.1,p.D30N|uc010dor.1,p.D52N|uc010dom.1,p.D39N|ENST00000586438,p.D30N|uc002ldb.3,p.D30N|uc010doq.1,p.D39N|uc010dnw.3,p.D30N|ENST00000535628,p.D30N|uc010dos.1,p.D30N|uc010doa.1,p.D52N|uc010dnz.1,p.D52N|uc010dnv.3,p.D52N|uc010doe.1,p.D30N|uc010dol.1,p.D39N|uc010dod.1,p.D52N|uc010dny.1,p.D30N|uc010dop.1,p.D30N|uc010doc.1,p.D39N|uc010dot.1,p.D30N|ENST00000588982,p.D30N|uc010don.1,p.D38N|uc010doj.1,p.D39N|NM_001039360,p.D30N|uc010dnu.3,p.D39N|uc010doi.1,p.D30N|uc010dnx.1,p.D30N|uc010dob.1,p.D30N|uc010dof.1,p.D30N	protein_coding	uc010dou.1	nonsynonymous SNV	exon6	c.G115A	p.D39N	SEVLCSLNEQRHDGLLCDVLLVVQE	SEVLCSLNEQRHNGLLCDVLLVVQE	3.0	2.0	-	-	4032_18:45567391-45567391 C>T_SEVLCSLNEQRHNGLLCDVLLVVQE
22:38482353-38482394 TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA>-	0.0	4032	COLON	-	-	ID=COSM1034095;OCCURENCE=6(large_intestine),1(breast),1(endometrium),1(haematopoietic_and_lymphoid_tissue)	-	BAIAP2L2	ENST00000428572,p.132_146del|ENST00000381669,p.441_455del|uc003auw.3,p.441_455del|NM_025045,p.441_455del	protein_coding	uc003auw.3	nonframeshift deletion	exon12	c.1322_1363del	p.441_455del	SLDDLLDRPGNSIAPSEYWDGQSRS	SLDDLLDRPGNSTPSRVPSRAPSPA	7.0	2.0	unscreened	-	4032_22:38482353-38482394 TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA>-_SLDDLLDRPGNSTPSRVPSRAPSPA
5:13839560-13839560 G>T	0.0	4032	COLON	-	-	-	-	DNAH5	NM_001369,p.D1929E|uc003jfd.2,p.D1929E|ENST00000265104,p.D1929E	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon35	c.C5787A	p.D1929E	LKQCRFYFNEDSDKMMIHITDVAFI	LKQCRFYFNEDSEKMMIHITDVAFI	3.0	9.0	-	-	4032_5:13839560-13839560 G>T_LKQCRFYFNEDSEKMMIHITDVAFI
2:219209241-219209241 G>A	1.0	4032	COLON	-	rs61745358	-	-	PNKD	ENST00000273077,p.R311Q|ENST00000436005,p.R251Q|uc002vhq.3,p.R287Q|NM_022572,p.R287Q|ENST00000258362,p.R287Q|uc002vhn.3,p.R311Q|NM_015488,p.R311Q	retained_intron, protein_coding, processed_transcript	uc002vhq.3	nonsynonymous SNV	exon8	c.G860A	p.R287Q	GFAGVVEPENLARERKMQWVQRQRL	GFAGVVEPENLAQERKMQWVQRQRL	9.0	6.0	-	-	4032_2:219209241-219209241 G>A_GFAGVVEPENLAQERKMQWVQRQRL
6:34026903-34026903 C>T	0.0	4032	COLON	-	-	-	-	GRM4	uc011dsn.3,p.R292H|NM_001256811,p.R292H|ENST00000544773,p.R123H|NM_001256813,p.R159H|ENST00000538487,p.R292H|ENST00000455714,p.R152H|ENST00000535756,p.R159H|NM_001256809,p.R223H|uc031som.1,p.R223H|uc011dsl.3,p.R152H|uc003oiq.4,p.R159H|NM_001256812,p.R123H|uc011dsm.3,p.R123H|NM_000841,p.R292H|ENST00000374177,p.R223H|uc010jvh.4,p.R292H|ENST00000374181,p.R292H	protein_coding	uc031som.1	nonsynonymous SNV	exon4	c.G668A	p.R223H	AVIIFANEDDIRRVLEAARRANQTG	AVIIFANEDDIRHVLEAARRANQTG	1.0	6.0	-	-	4032_6:34026903-34026903 C>T_AVIIFANEDDIRHVLEAARRANQTG
2:223085004-223085004 G>A	0.0	4032	COLON	-	-	ID=COSM170211;OCCURENCE=1(large_intestine)	1	PAX3	NM_181461,p.T343M|uc002vmx.2,p.T343M|uc002vmw.2,p.T343M|ENST00000392070,p.T343M|ENST00000336840,p.T343M|uc002vmy.2,p.T342M|NM_001127366,p.T342M|uc010fwo.3,p.T343M|ENST00000409551,p.T342M|NM_181460,p.T343M|NM_181459,p.T343M|uc002vmv.2,p.T343M|NM_181458,p.T343M|NM_181457,p.T343M|ENST00000350526,p.T343M|ENST00000392069,p.T343M|ENST00000344493,p.T343M|uc002vmt.2,p.T343M	protein_coding	uc010fwo.3	nonsynonymous SNV	exon7	c.C1028T	p.T343M	PQPLPPSTVHQSTIPSNPDSSSAYC	PQPLPPSTVHQSMIPSNPDSSSAYC	10.0	8.0	-	-	4032_2:223085004-223085004 G>A_PQPLPPSTVHQSMIPSNPDSSSAYC
5:169535444-169535444 C>G	0.0	4032	COLON	-	-	-	-	FOXI1	uc003maj.4,p.F227L|NM_012188,p.F322L|uc003mai.4,p.F322L|NM_144769,p.F227L|ENST00000306268,p.F322L|ENST00000449804,p.F227L	protein_coding	uc003maj.4	nonsynonymous SNV	exon2	c.C681G	p.F227L	DKTGQNSLTFNSFSPLTNLSNHSGG	DKTGQNSLTFNSLSPLTNLSNHSGG	1.0	7.0	-	-	4032_5:169535444-169535444 C>G_DKTGQNSLTFNSLSPLTNLSNHSGG
2:131520268-131520268 C>T	0.0	4032	COLON	-	-	-	-	AMER3	NM_152698,p.P208L|ENST00000423981,p.P208L|uc010fmt.1,p.P208L|uc002trw.2,p.P208L|NM_001105195,p.P208L|uc010fms.1,p.P208L|ENST00000321420,p.P208L|uc010fmu.1,p.P208L|NM_001105193,p.P208L|uc021voy.1,p.P208L|NM_001105194,p.P208L|uc010fmv.2,p.P208L	protein_coding	uc021voy.1	nonsynonymous SNV	exon1	c.C623T	p.P208L	RRSKAFLPPGEGPGLDGLCQDLLDS	RRSKAFLPPGEGLGLDGLCQDLLDS	1.0	6.0	-	-	4032_2:131520268-131520268 C>T_RRSKAFLPPGEGLGLDGLCQDLLDS
11:66062930-66062930 C>T	0.0	4032	COLON	-	-	-	-	TMEM151A	uc001ohl.3,p.R405C|NM_153266,p.R405C|ENST00000327259,p.R405C	protein_coding	uc001ohl.3	nonsynonymous SNV	exon2	c.C1213T	p.R405C	RPSGPRLPFSRSRLSLGAGGRATPG	RPSGPRLPFSRSCLSLGAGGRATPG	2.0	2.0	-	-	4032_11:66062930-66062930 C>T_RPSGPRLPFSRSCLSLGAGGRATPG
15:22743398-22743398 T>C	0.0	4032	COLON	-	-	-	-	GOLGA6L1,GOLGA6L22	NM_001001413,p.W595R|uc010tzx.1,p.W595R|ENST00000316397,p.W595R|ENST00000560659,p.W545R	protein_coding	uc010tzx.1	nonsynonymous SNV	exon8	c.T1783C	p.W595R	QKEKIREQEEKIWEQEEKIREQEEM	QKEKIREQEEKIREQEEKIREQEEM	1.0	9.0	unscreened	-	4032_15:22743398-22743398 T>C_QKEKIREQEEKIREQEEKIREQEEM
7:113519201-113519201 C>A	0.0	4032	COLON	-	-	-	-	PPP1R3A	ENST00000284601,p.S649I|NM_002711,p.S649I|uc010ljy.1,p.S649I	protein_coding, nonsense_mediated_decay	uc010ljy.1	nonsynonymous SNV	exon4	c.G1946T	p.S649I	KSGGINSEDQDNSPQHKQSWNVLES	KSGGINSEDQDNIPQHKQSWNVLES	1.0	9.0	-	-	4032_7:113519201-113519201 C>A_KSGGINSEDQDNIPQHKQSWNVLES
19:44039306-44039306 G>A	0.0	4032	COLON	-	-	-	-	ZNF575	ENST00000598080,p.D69N|uc002owq.3,p.D168N|ENST00000458714,p.D168N|NM_174945,p.D69N|ENST00000314228,p.D69N|uc002ows.3,p.D69N|ENST00000601282,p.D69N	retained_intron, protein_coding	uc002ows.3	nonsynonymous SNV	exon4	c.G205A	p.D69N	PPPQRPHRCPDCDKAFSYPSKLATH	PPPQRPHRCPDCNKAFSYPSKLATH	3.0	3.0	-	-	4032_19:44039306-44039306 G>A_PPPQRPHRCPDCNKAFSYPSKLATH
3:50147828-50147828 C>G	0.0	4032	COLON	-	-	-	-	RBM5	uc003cyg.3,p.P432R|NM_005778,p.P432R|uc011bdj.2,p.P376R|ENST00000347869,p.P432R|uc011bdk.2,p.P260R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bdk.2	nonsynonymous SNV	exon15	c.C779G	p.P260R	SNPPGSPTEEAQPSTSTSTQAPAAS	SNPPGSPTEEAQRSTSTSTQAPAAS	10.0	5.0	-	-	4032_3:50147828-50147828 C>G_SNPPGSPTEEAQRSTSTSTQAPAAS
6:144508422-144508422 C>T	0.0	4032	COLON	-	-	-	-	STX11	NM_003764,p.R220C|ENST00000367568,p.R220C|uc003qks.4,p.R220C|uc021zgk.1,p.R220C	protein_coding	uc021zgk.1	nonsynonymous SNV	exon1	c.C658T	p.R220C	ESRHRELLRLESRIRDVHELFLQMA	ESRHRELLRLESCIRDVHELFLQMA	4.0	6.0	-	-	4032_6:144508422-144508422 C>T_ESRHRELLRLESCIRDVHELFLQMA
1:65720240-65720240 G>A	0.0	4032	COLON	-	-	-	-	AK4,DNAJC6	ENST00000494710,p.G8D|uc001dcb.1,p.G8D|uc001dcc.1,p.G8D	protein_coding, processed_transcript	uc001dcc.1	nonsynonymous SNV	exon1	c.G23A	p.G8D	MGATEKGGQKSRKLFSLRRP	MGATEKGDQKSRKLFSLRRP	4.0	3.0	-	-	4032_1:65720240-65720240 G>A_MGATEKGDQKSRKLFSLRRP
18:50866127-50866127 C>A	0.0	4032	COLON	-	-	ID=COSM369953;OCCURENCE=1(lung)	2	DCC	uc010xdr.1,p.Q585K|NM_005215,p.Q737K|ENST00000581580,p.Q392K|ENST00000442544,p.Q737K|uc010dpf.2,p.Q392K|uc002lfe.2,p.Q737K|ENST00000412726,p.Q585K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdr.1	nonsynonymous SNV	exon15	c.C1753A	p.Q585K	VPDQPSSLHVRPQTNCIIMSWTPPL	VPDQPSSLHVRPKTNCIIMSWTPPL	1.0	4.0	-	-	4032_18:50866127-50866127 C>A_VPDQPSSLHVRPKTNCIIMSWTPPL
19:33716487-33716487 C>G	0.0	4032	COLON	-	-	-	-	SLC7A10	uc010xrq.2,p.A83P	protein_coding, nonsense_mediated_decay	uc010xrq.2	nonsynonymous SNV	exon1	c.G247C	p.A83P	RLGAGGAQEGDRAAERLHHHHRFLL	RLGAGGAQEGDRPAERLHHHHRFLL	1.0	7.0	-	-	4032_19:33716487-33716487 C>G_RLGAGGAQEGDRPAERLHHHHRFLL
11:60774090-60774090 G>T	0.0	4032	COLON	-	-	-	-	CD6	uc001nqr.3,p.A32S|ENST00000352009,p.A32S|NM_006725,p.A32S|ENST00000542157,p.A32S|ENST00000346437,p.A32S|uc001nqq.3,p.A32S|uc009ynj.3,p.A32S|ENST00000452451,p.A32S|ENST00000344028,p.A32S|ENST00000313421,p.A32S|NM_001254751,p.A32S|uc009yni.3,p.A32S|uc001nqp.3,p.A32S|ENST00000344931,p.A32S|NM_001254750,p.A32S|uc001nqt.3,p.A32S|ENST00000433107,p.A32S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ynj.3	nonsynonymous SNV	exon2	c.G94T	p.A32S	SPAPPDQLNTSSAESELWEPGERLP	SPAPPDQLNTSSSESELWEPGERLP	5.0	8.0	-	-	4032_11:60774090-60774090 G>T_SPAPPDQLNTSSSESELWEPGERLP
1:36060129-36060129 G>C	0.0	4032	COLON	-	-	-	-	TFAP2E	ENST00000373235,p.G394A|uc010ohy.2,p.G394A|NM_178548,p.G394A	protein_coding	uc010ohy.2	nonsynonymous SNV	exon7	c.G1181C	p.G394A	CLTHFSLITHGFGGPAICAALTAFQ	CLTHFSLITHGFAGPAICAALTAFQ	5.0	3.0	-	-	4032_1:36060129-36060129 G>C_CLTHFSLITHGFAGPAICAALTAFQ
1:240255858-240255858 C>T	0.0	4032	COLON	-	-	-	-	FMN2	uc010pyd.2,p.A150V|NM_020066,p.A150V|uc010pye.2,p.A150V|ENST00000319653,p.A150V	protein_coding, processed_transcript	uc010pye.2	nonsynonymous SNV	exon1	c.C449T	p.A150V	PFEVTGPGGPGPAEARVGGRPIAED	PFEVTGPGGPGPVEARVGGRPIAED	10.0	4.0	-	-	4032_1:240255858-240255858 C>T_PFEVTGPGGPGPVEARVGGRPIAED
6:46787408-46787408 T>C	1.0	4032	COLON	-	-	-	-	MEP1A	NM_005588,p.Y175H|uc011dwh.1,p.Y203H|uc010jzh.1,p.Y175H|uc011dwi.1,p.Y75H|ENST00000230588,p.Y175H	protein_coding	uc011dwi.1	nonsynonymous SNV	exon5	c.T223C	p.Y75H	FYHEQSRTDRDDYVNIWWDQILSGY	FYHEQSRTDRDDHVNIWWDQILSGY	4.0	6.0	-	-	4032_6:46787408-46787408 T>C_FYHEQSRTDRDDHVNIWWDQILSGY
16:4626223-4626223 C>T	0.0	4032	COLON	-	-	-	-	C16orf96	ENST00000444310,p.A581V|NM_001145011,p.A581V|uc010uxn.2,p.A581V	protein_coding	uc010uxn.2	nonsynonymous SNV	exon5	c.C1742T	p.A581V	AIAAAAAAAYAAATSSAAQAAKVAA	AIAAAAAAAYAAVTSSAAQAAKVAA	1.0	7.0	-	-	4032_16:4626223-4626223 C>T_AIAAAAAAAYAAVTSSAAQAAKVAA
2:18745348-18745348 A>T	0.0	4032	COLON	-	-	-	-	NT5C1B,NT5C1B-RDH14	uc010exs.3,p.L518Q|uc002rcy.3,p.L516Q|NM_001199088,p.L518Q|ENST00000600945,p.L516Q|ENST00000532967,p.L516Q|uc002rda.3,p.L456Q|ENST00000304081,p.L456Q|uc002rcz.3,p.L516Q|NM_001199087,p.L533Q|uc010yju.2,p.L456Q|uc010yjw.2,p.L499Q|NM_001199104,p.L516Q|NM_001002006,p.L516Q|ENST00000359846,p.L516Q|NM_001199086,p.L499Q|uc010yjv.2,p.L533Q|NM_033253,p.L456Q	 nonsense_mediated_decay, processed_transcript,protein_coding,retained_intron, protein_coding	uc010yjw.2	nonsynonymous SNV	exon10	c.T1496A	p.L499Q	GPLKGFLEDLGRLQKKFYAKNERLL	GPLKGFLEDLGRQQKKFYAKNERLL	1.0	5.0	-	-	4032_2:18745348-18745348 A>T_GPLKGFLEDLGRQQKKFYAKNERLL
12:11461706-11461706 G>T	0.0	4032	COLON	-	-	-	-	PRB4	uc031qgh.1,p.P71T|uc001qzf.2,p.P71T|ENST00000445719,p.P71T|NM_001261399,p.P71T|NM_002723,p.P71T|ENST00000279575,p.P71T|uc001qzt.4,p.P71T|ENST00000535904,p.P71T	protein_coding	uc031qgh.1	nonsynonymous SNV	exon3	c.C211A	p.P71T	GPPPQGGNQSQGPPPPPGKPEGRPP	GPPPQGGNQSQGTPPPPGKPEGRPP	1.0	3.0	-	-	4032_12:11461706-11461706 G>T_GPPPQGGNQSQGTPPPPGKPEGRPP
13:50092208-50092209 TG>-	0.0	4032	COLON	-	-	-	-	PHF11	uc031qlo.1,p.C127fs|uc010tgl.2,p.C127fs|ENST00000496612,p.C59fs|ENST00000378319,p.C127fs|NM_001040443,p.C127fs|uc001vdb.3,p.C127fs|ENST00000488958,p.C88fs|ENST00000357596,p.C88fs|uc001vdc.3,p.C88fs|ENST00000465045,p.C88fs|NM_001040444,p.C88fs|ENST00000442195,p.C88fs|ENST00000485919,p.C88fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qlo.1	frameshift deletion	exon4	c.379_380del	p.C127fs	KRGATVGCDLKNCNKNYHFFCAKKD	KRGATVGCDLKN	8.0	5.0	-	-	4032_13:50092208-50092209 TG>-_KRGATVGCDLKN
2:238725989-238725989 ->T	0.0	4032	COLON	-	-	ID=COSM270671,COSM270670;OCCURENCE=2(large_intestine)	-	RBM44	ENST00000409864,p.V144fs|uc002vxi.4,p.V144fs|ENST00000316997,p.V144fs|NM_001080504,p.V144fs	retained_intron, protein_coding, processed_transcript	uc002vxi.4	frameshift insertion	exon3	c.431dupT	p.V144fs	SELDPEVQKKEEVFFNILEHQDKTV	SELDPEVQKKEEVFF	2.0	6.0	-	-	4032_2:238725989-238725989 ->T_SELDPEVQKKEEVFF
2:216285486-216285486 C>G	1.0	4166	COLON	-	-	-	-	FN1	NM_212474,p.D529H|NM_054034,p.D529H|ENST00000346544,p.D529H|ENST00000426059,p.D529H|uc002vfi.3,p.D529H|uc002vfc.3,p.D529H|uc002vfg.3,p.D529H|ENST00000443816,p.D529H|ENST00000354785,p.D529H|uc002vfh.3,p.D529H|NM_212476,p.D529H|ENST00000421182,p.D529H|uc002vfl.3,p.D529H|uc002vff.3,p.D529H|ENST00000446046,p.D529H|ENST00000359671,p.D529H|ENST00000357867,p.D529H|ENST00000336916,p.D529H|uc002vfb.3,p.D529H|uc002vfj.3,p.D529H|NM_212482,p.D529H|NM_002026,p.D529H|ENST00000357009,p.D529H|ENST00000432072,p.D529H|ENST00000323926,p.D529H|ENST00000356005,p.D529H|ENST00000345488,p.D529H|uc002vfe.3,p.D529H|NM_212478,p.D529H|uc002vfa.3,p.D529H	retained_intron, protein_coding, processed_transcript	uc002vfl.3	nonsynonymous SNV	exon11	c.G1585C	p.D529H	QCIVDDITYNVNDTFHKRHEEGHML	QCIVDDITYNVNHTFHKRHEEGHML	10.0	5.0	-	-	4166_2:216285486-216285486 C>G_QCIVDDITYNVNHTFHKRHEEGHML
19:20308373-20308373 A>C	1.0	4166	COLON	-	-	-	-	ZNF486	NM_052852,p.K285T|ENST00000335117,p.K285T|uc002nou.3,p.K285T	protein_coding	uc002nou.3	nonsynonymous SNV	exon4	c.A854C	p.K285T	KAFMYPYTLTTHKIIHTGEQPYKCK	KAFMYPYTLTTHTIIHTGEQPYKCK	6.0	2.0	-	-	4166_19:20308373-20308373 A>C_KAFMYPYTLTTHTIIHTGEQPYKCK
9:131708448-131708448 A>C	1.0	4166	COLON	-	-	-	-	DOLK	uc004bwr.3,p.F379V|ENST00000372586,p.F379V|NM_014908,p.F379V	protein_coding	uc004bwr.3	nonsynonymous SNV	exon1	c.T1135G	p.F379V	LAVFIFLEYVRYFRIKPLGHTLRSF	LAVFIFLEYVRYVRIKPLGHTLRSF	8.0	1.0	unscreened	-	4166_9:131708448-131708448 A>C_LAVFIFLEYVRYVRIKPLGHTLRSF
5:81474312-81474312 G>A	1.0	4166	COLON	-	-	-	-	ATG10	ENST00000504770,p.G120E|ENST00000458350,p.G120E|ENST00000282185,p.G120E|uc003khr.3,p.G120E|NM_031482,p.G120E|uc003khs.3,p.G120E|ENST00000513634,p.G120E|uc010jas.3,p.G84E|NM_001131028,p.G120E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010jas.3	nonsynonymous SNV	exon4	c.G251A	p.G84E	VPVLYFRASFLDGRPLTLKDIWEGV	VPVLYFRASFLDERPLTLKDIWEGV	9.0	7.0	-	-	4166_5:81474312-81474312 G>A_VPVLYFRASFLDERPLTLKDIWEGV
13:108955826-108955826 G>A	1.0	4166	COLON	-	-	-	-	TNFSF13B	NM_006573,p.A207T|uc001vqr.3,p.A207T|ENST00000375887,p.A207T|NM_001145645,p.A188T|ENST00000430559,p.A188T|uc010agj.3,p.A188T	protein_coding, processed_transcript	uc010agj.3	nonsynonymous SNV	exon4	c.G562A	p.A188T	IYGQVLYTDKTYAMGHLIQRKKVHV	IYGQVLYTDKTYTMGHLIQRKKVHV	7.0	5.0	-	-	4166_13:108955826-108955826 G>A_IYGQVLYTDKTYTMGHLIQRKKVHV
17:79536074-79536074 T>C	1.0	4166	COLON	-	-	-	-	NPLOC4	NM_017921,p.I473V|ENST00000374747,p.I473V|uc002kau.3,p.I473V|uc002kat.4,p.I473V|ENST00000571714,p.I41V|ENST00000573212,p.I19V|uc010wur.1,p.I312V|ENST00000331134,p.I473V|ENST00000539314,p.I312V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wur.1	nonsynonymous SNV	exon13	c.A934G	p.I312V	VYTFSISQNPFPIENRDVLGETQDF	VYTFSISQNPFPVENRDVLGETQDF	9.0	9.0	CD8	-	4166_17:79536074-79536074 T>C_VYTFSISQNPFPVENRDVLGETQDF
4:985137-985137 G>A	1.0	4166	COLON	-	-	-	-	SLC26A1	ENST00000398516,p.R119W|uc003gcc.3,p.R119W|uc003gbx.3,p.R119W|NM_022042,p.R119W|NM_134425,p.R119W|ENST00000398520,p.R119W|ENST00000361661,p.R119W|uc003gcb.3,p.R119W|NM_213613,p.R119W	protein_coding, processed_transcript	uc003gcc.3	nonsynonymous SNV	exon2	c.C355T	p.R119W	FANLIYFLMGTSRHVSVGIFSLLCL	FANLIYFLMGTSWHVSVGIFSLLCL	5.0	7.0	-	-	4166_4:985137-985137 G>A_FANLIYFLMGTSWHVSVGIFSLLCL
13:31330126-31330126 A>G	1.0	4166	COLON	-	-	ID=COSM1244863;OCCURENCE=1(oesophagus)	-	ALOX5AP	uc010tdr.2,p.K153R|uc001utf.2,p.K96R|ENST00000380490,p.K96R|NM_001629,p.K96R|NM_001204406,p.K153R	protein_coding, processed_transcript	uc010tdr.2	nonsynonymous SNV	exon5	c.A458G	p.K153R	AFAGLMYLFVRQKYFVGYLGERTQS	AFAGLMYLFVRQRYFVGYLGERTQS	9.0	3.0	-	-	4166_13:31330126-31330126 A>G_AFAGLMYLFVRQRYFVGYLGERTQS
11:113609003-113609003 T>G	1.0	4166	COLON	-	-	-	-	ZW10	uc001poe.3,p.S623R|ENST00000200135,p.S623R|ENST00000535142,p.S623R|NM_004724,p.S623R	protein_coding, nonsense_mediated_decay	uc001poe.3	nonsynonymous SNV	exon13	c.A1867C	p.S623R	SNMDDEENYSAASKAVRQVLHQLKR	SNMDDEENYSAARKAVRQVLHQLKR	7.0	6.0	-	-	4166_11:113609003-113609003 T>G_SNMDDEENYSAARKAVRQVLHQLKR
7:2578150-2578150 G>C	1.0	4166	COLON	-	-	-	-	BRAT1	NM_152743,p.C673W|uc003smh.4,p.C105W|uc003smi.3,p.C673W|ENST00000340611,p.C673W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003smi.3	nonsynonymous SNV	exon14	c.C2019G	p.C673W	FLGQTLGPPRTHCPYAVALPEVAPA	FLGQTLGPPRTHWPYAVALPEVAPA	9.0	4.0	-	-	4166_7:2578150-2578150 G>C_FLGQTLGPPRTHWPYAVALPEVAPA
17:41142901-41142901 C>T	1.0	4166	COLON	-	-	-	-	RUNDC1	ENST00000361677,p.T337M|NM_173079,p.T337M|uc002ici.1,p.T337M	retained_intron, protein_coding	uc002ici.1	nonsynonymous SNV	exon5	c.C1010T	p.T337M	KTKAEDVKKVRETGLHLMRRALAVL	KTKAEDVKKVREMGLHLMRRALAVL	8.0	4.0	-	-	4166_17:41142901-41142901 C>T_KTKAEDVKKVREMGLHLMRRALAVL
13:72131275-72131275 C>G	1.0	4166	COLON	-	-	-	-	DACH1	uc021rkj.1,p.G486A|ENST00000359684,p.G538A|ENST00000305425,p.G486A	protein_coding	uc021rkj.1	nonsynonymous SNV	exon6	c.G1457C	p.G486A	ESSSDRIPVHQNGLSMNQMLMGLSP	ESSSDRIPVHQNALSMNQMLMGLSP	7.0	4.0	-	-	4166_13:72131275-72131275 C>G_ESSSDRIPVHQNALSMNQMLMGLSP
6:30166643-30166643 G>C	1.0	4166	COLON	-	-	-	-	TRIM26	ENST00000434785,p.R80G|uc003nps.3,p.R80G|ENST00000453195,p.R80G|ENST00000418026,p.R80G|ENST00000437089,p.R80G|ENST00000416596,p.R80G|ENST00000454678,p.R80G|uc003npr.3,p.R80G|NM_001242783,p.R80G|NM_003449,p.R80G|uc003npu.1,p.R80G|uc003npt.3,p.R80G	retained_intron, protein_coding, processed_transcript	uc003npu.1	nonsynonymous SNV	exon3	c.C238G	p.R80G	VWQLASLVENIERLKVDKGRQPGEV	VWQLASLVENIEGLKVDKGRQPGEV	8.0	9.0	-	-	4166_6:30166643-30166643 G>C_VWQLASLVENIEGLKVDKGRQPGEV
4:128863265-128863265 T>A	1.0	4166	COLON	-	-	-	-	MFSD8	ENST00000513559,p.Q118L|NM_152778,p.Q163L|uc011cgu.2,p.Q118L|ENST00000296468,p.Q163L|uc003ifp.3,p.Q163L|ENST00000541133,p.Q118L|uc011cgx.1,p.Q118L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cgx.1	nonsynonymous SNV	exon5	c.A353T	p.Q118L	VVRSYTAGATSLQERTSSMANISMC	VVRSYTAGATSLLERTSSMANISMC	8.0	9.0	-	-	4166_4:128863265-128863265 T>A_VVRSYTAGATSLLERTSSMANISMC
4:70721060-70721060 C>T	1.0	4166	COLON	-	-	ID=COSM1057027;OCCURENCE=3(endometrium)	-	SULT1E1	ENST00000226444,p.R77Q|uc003heo.3,p.R77Q|NM_005420,p.R77Q|uc010ihv.1,p.R77Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010ihv.1	nonsynonymous SNV	exon3	c.G230A	p.R77Q	DVEKCKEDVIFNRIPFLECRKENLM	DVEKCKEDVIFNQIPFLECRKENLM	7.0	10.0	-	-	4166_4:70721060-70721060 C>T_DVEKCKEDVIFNQIPFLECRKENLM
7:99705728-99705728 G>C	1.0	4166	COLON	-	-	-	-	TAF6	uc003uth.3,p.L550V|ENST00000472509,p.L550V|ENST00000453269,p.L493V|uc003utk.3,p.L493V|NM_001190415,p.L530V|uc003utm.3,p.L493V|ENST00000452041,p.L493V|NM_139315,p.L493V|ENST00000437822,p.L530V|uc011kji.2,p.L530V|ENST00000418432,p.L417V|uc003uti.3,p.L493V|ENST00000344095,p.L493V|uc003utg.3,p.L415V|NM_005641,p.L493V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kji.2	nonsynonymous SNV	exon14	c.C1588G	p.L530V	TLTITQPRPTLTLSQAPQPGPRTPG	TLTITQPRPTLTVSQAPQPGPRTPG	8.0	1.0	unscreened	-	4166_7:99705728-99705728 G>C_TLTITQPRPTLTVSQAPQPGPRTPG
20:37581132-37581132 G>C	1.0	4166	COLON	-	-	-	-	FAM83D	uc002xjg.3,p.R606T|NM_030919,p.R606T|ENST00000217429,p.R606T	protein_coding	uc002xjg.3	nonsynonymous SNV	exon4	c.G1817C	p.R606T	SGNFSRVNLLAVRDVALYPSYQ	SGNFSRVNLLAVTDVALYPSYQ	8.0	1.0	-	-	4166_20:37581132-37581132 G>C_SGNFSRVNLLAVTDVALYPSYQ
17:7577539-7577539 G>A	1.0	4166	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	uc002gii.2,p.R89W|ENST00000455263,p.R248W|ENST00000420246,p.R248W|NM_001126117,p.R116W|NM_001276761,p.R209W|NM_001126115,p.R116W|NM_001126118,p.R209W|uc002gin.3,p.R155W|NM_001276695,p.R209W|ENST00000269305,p.R248W|NM_001276696,p.R209W|NM_001126116,p.R116W|uc010cnf.2,p.R89W|ENST00000445888,p.R248W|NM_001126112,p.R248W|ENST00000413465,p.R248W|ENST00000359597,p.R248W|ENST00000509690,p.R116W|NM_001276697,p.R89W|NM_001126114,p.R248W|NM_001276699,p.R89W|uc002gio.3,p.R116W|NM_001276698,p.R89W|NM_001126113,p.R248W|uc031qyq.1,p.R209W|uc010cng.2,p.R89W|uc002gij.3,p.R209W|uc002gig.1,p.R248W|uc002gih.3,p.R248W|NM_000546,p.R248W|NM_001276760,p.R209W	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon6	c.C625T	p.R209W	YMCNSSCMGGMNRRPILTIITLEDS	YMCNSSCMGGMNWRPILTIITLEDS	9.0	10.0	-	-	4166_17:7577539-7577539 G>A_YMCNSSCMGGMNWRPILTIITLEDS
20:21309301-21309301 G>T	1.0	4166	COLON	-	-	-	-	XRN2	ENST00000430571,p.L64F|ENST00000539513,p.L86F|ENST00000377191,p.L140F|uc002wsg.1,p.L64F|NM_012255,p.L140F|uc010zsk.1,p.L86F|uc002wsf.1,p.L140F	protein_coding	uc010zsk.1	nonsynonymous SNV	exon4	c.G258T	p.L86F	AAVEKQRVREEILAKGGFLPPEEIK	AAVEKQRVREEIFAKGGFLPPEEIK	10.0	1.0	-	-	4166_20:21309301-21309301 G>T_AAVEKQRVREEIFAKGGFLPPEEIK
10:105177687-105177687 C>A	1.0	4166	COLON	-	-	-	-	PDCD11	NM_014976,p.Q637K|uc001kwy.1,p.Q637K|ENST00000369797,p.Q637K	protein_coding, processed_transcript	uc001kwy.1	nonsynonymous SNV	exon14	c.C1909A	p.Q637K	HSQKKGKAINIGQLVDVKVLEKTKD	HSQKKGKAINIGKLVDVKVLEKTKD	8.0	6.0	-	-	4166_10:105177687-105177687 C>A_HSQKKGKAINIGKLVDVKVLEKTKD
14:68045885-68045885 C>T	1.0	4166	COLON	-	-	-	-	PLEKHH1	uc001xjl.1,p.R962W|NM_020715,p.R962W|uc010tsw.1,p.R530W|uc001xjn.1,p.R477W|ENST00000329153,p.R962W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tsw.1	nonsynonymous SNV	exon14	c.C1588T	p.R530W	RSETGQYATYCQRAVERTLRTGERE	RSETGQYATYCQWAVERTLRTGERE	7.0	4.0	-	-	4166_14:68045885-68045885 C>T_RSETGQYATYCQWAVERTLRTGERE
12:6601600-6601600 C>T	1.0	4166	COLON	-	-	-	-	MRPL51	uc001qom.2,p.R75K|ENST00000229238,p.R75K|NM_016497,p.R75K	protein_coding, processed_transcript	uc001qom.2	nonsynonymous SNV	exon3	c.G224A	p.R75K	LGNFEKHPKELIRGPIWLRGWKGNE	LGNFEKHPKELIKGPIWLRGWKGNE	10.0	2.0	-	-	4166_12:6601600-6601600 C>T_LGNFEKHPKELIKGPIWLRGWKGNE
7:30496480-30496480 T>G	1.0	4166	COLON	-	-	-	-	NOD1	uc003tav.3,p.I20L|uc010kvs.2,p.I20L|ENST00000434755,p.I20L|ENST00000419799,p.I20L|ENST00000222823,p.I20L|NM_006092,p.I20L|ENST00000411552,p.I20L|ENST00000419601,p.I20L|ENST00000413433,p.I20L|ENST00000423334,p.I20L	retained_intron, protein_coding, nonsense_mediated_decay	uc010kvs.2	nonsynonymous SNV	exon4	c.A58C	p.I20L	EMEIIPSESHPHIQLLKSNRELLVT	EMEIIPSESHPHLQLLKSNRELLVT	7.0	10.0	-	-	4166_7:30496480-30496480 T>G_EMEIIPSESHPHLQLLKSNRELLVT
14:45618068-45618068 T>C	1.0	4166	COLON	-	-	-	-	FANCM	uc001wwc.2,p.L263P|uc001wwd.4,p.L263P|ENST00000556036,p.L263P|NM_020937,p.L263P|ENST00000267430,p.L263P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wwd.4	nonsynonymous SNV	exon4	c.T788C	p.L263P	DIKAVQQVITNLLIGQIELRSEDSP	DIKAVQQVITNLPIGQIELRSEDSP	5.0	9.0	-	-	4166_14:45618068-45618068 T>C_DIKAVQQVITNLPIGQIELRSEDSP
14:45618068-45618068 T>C	1.0	4166	COLON	-	-	-	-	FANCM	uc010anf.3,p.L237P|ENST00000542564,p.L237P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010anf.3	nonsynonymous SNV	exon3	c.T710C	p.L237P	YCQAVQQVITNLLIGQIELRSEDSP	YCQAVQQVITNLPIGQIELRSEDSP	5.0	9.0	-	-	4166_14:45618068-45618068 T>C_YCQAVQQVITNLPIGQIELRSEDSP
3:142231222-142231222 T>C	1.0	4166	COLON	-	-	-	1	ATR	NM_001184,p.T1578A|ENST00000350721,p.T1578A|ENST00000383101,p.T1514A|uc003eux.4,p.T1578A	retained_intron, protein_coding, nonsense_mediated_decay	uc003eux.4	nonsynonymous SNV	exon27	c.A4732G	p.T1578A	TQDIASDLCQLSTQTVFSMLDHLTQ	TQDIASDLCQLSAQTVFSMLDHLTQ	9.0	10.0	-	-	4166_3:142231222-142231222 T>C_TQDIASDLCQLSAQTVFSMLDHLTQ
15:91449120-91449120 A>G	1.0	4166	COLON	-	-	-	-	MAN2A2	NM_006122,p.H194R|ENST00000360468,p.H194R|uc010bnz.2,p.H194R|ENST00000558161,p.H194R|uc002bqc.3,p.H194R|uc010boa.3,p.H236R|ENST00000560451,p.H194R|ENST00000559717,p.H194R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010boa.3	nonsynonymous SNV	exon4	c.A707G	p.H236R	KTFDKYYTEQTQHILNSMVSKLQED	KTFDKYYTEQTQRILNSMVSKLQED	9.0	3.0	unscreened	-	4166_15:91449120-91449120 A>G_KTFDKYYTEQTQRILNSMVSKLQED
4:187003835-187003835 C>A	1.0	4166	COLON	-	-	-	-	TLR3	ENST00000504367,p.S55Y|uc011ckz.2,p.S55Y|NM_003265,p.S332Y|ENST00000296795,p.S332Y|uc003iyr.3,p.S55Y|uc003iyq.3,p.S332Y	retained_intron, protein_coding, processed_transcript	uc011ckz.2	nonsynonymous SNV	exon2	c.C164A	p.S55Y	GLFNVRYLNLKRSFTKQSISLASLP	GLFNVRYLNLKRYFTKQSISLASLP	6.0	8.0	-	-	4166_4:187003835-187003835 C>A_GLFNVRYLNLKRYFTKQSISLASLP
20:56227173-56227173 G>A	1.0	4166	COLON	-	-	-	-	PMEPA1	ENST00000347215,p.A232V|ENST00000395814,p.A217V|NM_199170,p.A217V|uc002xyr.4,p.A217V|uc002xys.4,p.A232V|uc002xyt.4,p.A217V|NM_020182,p.A267V|uc002xyq.4,p.A267V|NM_001255976,p.A239V|uc031ruk.1,p.A239V|ENST00000341744,p.A267V|ENST00000265626,p.A217V|ENST00000395816,p.A217V|NM_199171,p.A217V|NM_199169,p.A232V	protein_coding, processed_transcript	uc031ruk.1	nonsynonymous SNV	exon4	c.C716T	p.A239V	LLEGTRLHHTHIAPLESAAIWSKEK	LLEGTRLHHTHIVPLESAAIWSKEK	10.0	2.0	-	-	4166_20:56227173-56227173 G>A_LLEGTRLHHTHIVPLESAAIWSKEK
10:13658530-13658530 G>A	1.0	4166	COLON	-	-	-	-	PRPF18	NM_003675,p.E309K|ENST00000378572,p.E309K|uc001imp.3,p.E309K	protein_coding	uc001imp.3	nonsynonymous SNV	exon9	c.G925A	p.E309K	IFSKHVAHVLNDETQRKYIQGLKRL	IFSKHVAHVLNDKTQRKYIQGLKRL	8.0	5.0	-	-	4166_10:13658530-13658530 G>A_IFSKHVAHVLNDKTQRKYIQGLKRL
6:32714133-32714133 C>T	0.0	4166	COLON	-	-	-	-	HLA-DQA2	uc003obx.3,p.R244C|NM_020056,p.R244C|ENST00000374940,p.R244C	protein_coding	uc003obx.3	nonsynonymous SNV	exon4	c.C730T	p.R244C	IVVGTVFIIQGLRSVGASRHQGLL	IVVGTVFIIQGLCSVGASRHQGLL	9.0	3.0	unscreened	-	4166_6:32714133-32714133 C>T_IVVGTVFIIQGLCSVGASRHQGLL
3:48725963-48725963 C>T	1.0	4166	COLON	-	-	-	-	IP6K2	ENST00000328631,p.E342K|uc003cuq.3,p.E342K|NM_016291,p.E342K|uc003cup.3,p.E342K|NM_001005909,p.E342K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cuq.3	nonsynonymous SNV	exon6	c.G1024A	p.E342K	SLLVIYDGKERPEVVLDSDAEDLED	SLLVIYDGKERPKVVLDSDAEDLED	10.0	8.0	-	-	4166_3:48725963-48725963 C>T_SLLVIYDGKERPKVVLDSDAEDLED
11:68700875-68700875 C>G	0.0	4166	COLON	-	-	-	-	IGHMBP2	uc001oom.1,p.I26M|NM_002180,p.I448M|uc001ook.1,p.I448M|uc001ool.1,p.I72M|ENST00000255078,p.I448M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001oom.1	nonsynonymous SNV	exon1	c.C78G	p.I26M	RTLTVQYRMHQAIMRWASDTMYLGQ	RTLTVQYRMHQAMMRWASDTMYLGQ	7.0	8.0	-	-	4166_11:68700875-68700875 C>G_RTLTVQYRMHQAMMRWASDTMYLGQ
9:129931039-129931039 A>T	1.0	4166	COLON	-	-	-	-	RALGPS1	ENST00000259351,p.D277V|uc004bqo.2,p.D277V|ENST00000394022,p.D277V|uc004bqq.4,p.D277V|ENST00000424082,p.D277V|NM_014636,p.D277V|ENST00000373436,p.D277V|NM_001190729,p.D277V|uc022bno.1,p.D277V|NM_001190730,p.D277V|uc011mab.2,p.D277V|NM_001190728,p.D277V|ENST00000373434,p.D277V|uc011mac.2,p.D277V	protein_coding, processed_transcript	uc022bno.1	nonsynonymous SNV	exon10	c.A830T	p.D277V	VRYIEELQKFVEDDNYKLSLRIEPG	VRYIEELQKFVEVDNYKLSLRIEPG	7.0	7.0	-	-	4166_9:129931039-129931039 A>T_VRYIEELQKFVEVDNYKLSLRIEPG
10:16528559-16528559 G>A	1.0	4166	COLON	0.0005	-	-	-	PTER	ENST00000378000,p.R214Q|NM_001261837,p.R214Q|NM_001261838,p.R65Q|ENST00000423462,p.R214Q|NM_030664,p.R214Q|uc031pti.1,p.R65Q|uc009xjp.2,p.R214Q|uc001ioi.2,p.R214Q|ENST00000535784,p.R214Q|ENST00000298942,p.R214Q|uc001ioh.2,p.R214Q|NM_001001484,p.R214Q|uc001iog.2,p.R214Q|NM_001261836,p.R214Q	protein_coding, processed_transcript	uc031pti.1	nonsynonymous SNV	exon2	c.G194A	p.R65Q	PGRSSRAPFQIIRILQEAGADISKT	PGRSSRAPFQIIQILQEAGADISKT	7.0	4.0	-	-	4166_10:16528559-16528559 G>A_PGRSSRAPFQIIQILQEAGADISKT
11:64669580-64669580 G>A	1.0	4166	COLON	-	-	-	-	ATG2A	ENST00000421419,p.P1327S|uc001obw.3,p.P90S|NM_015104,p.P1325S|uc001obx.3,p.P1325S|ENST00000377264,p.P1325S	retained_intron, protein_coding	uc001obx.3	nonsynonymous SNV	exon29	c.C3973T	p.P1325S	VYLFPGERSGAPPPSPPVGGPAGSL	VYLFPGERSGAPSPSPPVGGPAGSL	7.0	7.0	-	-	4166_11:64669580-64669580 G>A_VYLFPGERSGAPSPSPPVGGPAGSL
3:196742336-196742336 T>G	1.0	4166	COLON	-	-	-	-	MFI2	NM_005929,p.K378T|uc003fxk.4,p.K378T|ENST00000296350,p.K378T	retained_intron, protein_coding	uc003fxk.4	nonsynonymous SNV	exon9	c.A1133C	p.K378T	LRWCVLSTPEIQKCGDMAVAFRRQR	LRWCVLSTPEIQTCGDMAVAFRRQR	9.0	1.0	unscreened	-	4166_3:196742336-196742336 T>G_LRWCVLSTPEIQTCGDMAVAFRRQR
16:31388530-31388530 G>T	0.0	4166	COLON	-	-	-	-	ITGAX	uc002ebu.1,p.K911N|uc002ebt.3,p.K911N|NM_001286375,p.K911N|ENST00000268296,p.K911N|NM_000887,p.K911N|ENST00000562522,p.K911N	retained_intron, protein_coding, processed_transcript	uc002ebu.1	nonsynonymous SNV	exon23	c.G2733T	p.K911N	NVSSENNTPRTSKTTFQLELPVKYA	NVSSENNTPRTSNTTFQLELPVKYA	5.0	6.0	-	-	4166_16:31388530-31388530 G>T_NVSSENNTPRTSNTTFQLELPVKYA
19:6389483-6389483 G>A	1.0	4166	COLON	0.0014	-	-	-	GTF2F1	ENST00000394456,p.L100F|NM_002096,p.L100F|uc002meq.2,p.L100F|ENST00000598607,p.L100F|ENST00000595047,p.L160F	retained_intron, protein_coding	uc002meq.2	nonsynonymous SNV	exon4	c.C298T	p.L100F	LKEFRPEDQPWLLRVNGKSGRKFKG	LKEFRPEDQPWLFRVNGKSGRKFKG	9.0	7.0	-	-	4166_19:6389483-6389483 G>A_LKEFRPEDQPWLFRVNGKSGRKFKG
7:157015950-157015950 G>A	1.0	4166	COLON	-	-	-	-	UBE3C	NM_014671,p.G669S|uc010lqs.3,p.G669S|ENST00000348165,p.G669S	retained_intron, protein_coding, nonsense_mediated_decay	uc010lqs.3	nonsynonymous SNV	exon16	c.G2005A	p.G669S	GRIGPLQSTLDVGLESPPLSVSEER	GRIGPLQSTLDVSLESPPLSVSEER	8.0	9.0	-	-	4166_7:157015950-157015950 G>A_GRIGPLQSTLDVSLESPPLSVSEER
12:27786363-27786363 G>T	1.0	4166	COLON	-	-	-	1	PPFIBP1	ENST00000542187,p.A25S	retained_intron, protein_coding, processed_transcript, non_stop_decay	ENST00000542187	nonsynonymous SNV	exon2	c.G73T	p.A25S	KMMSDASDMLAAALEQMDGIIAGSK	KMMSDASDMLAASLEQMDGIIAGSK	7.0	9.0	-	-	4166_12:27786363-27786363 G>T_KMMSDASDMLAASLEQMDGIIAGSK
20:34542433-34542433 C>T	1.0	4166	COLON	-	-	-	-	SCAND1	uc002xen.2,p.R24Q|NM_033630,p.R24Q	protein_coding	uc002xen.2	nonsynonymous SNV	exon1	c.G71A	p.R24Q	REPASGFRVLARRPGRREARDFRFR	REPASGFRVLARQPGRREARDFRFR	10.0	1.0	-	-	4166_20:34542433-34542433 C>T_REPASGFRVLARQPGRREARDFRFR
19:6389483-6389483 G>A	1.0	4166	COLON	0.0014	-	-	-	GTF2F1	ENST00000593678,p.L73F|ENST00000429701,p.L72F|uc010xjc.1,p.L72F	retained_intron, protein_coding	uc010xjc.1	nonsynonymous SNV	exon2	c.C214T	p.L72F	LKEFRPEDQPWLLRVNGKSGRKRNK	LKEFRPEDQPWLFRVNGKSGRKRNK	9.0	7.0	-	-	4166_19:6389483-6389483 G>A_LKEFRPEDQPWLFRVNGKSGRKRNK
1:144930717-144930717 C>-	0.0	4166	COLON	-	-	-	1	PDE4DIP	NM_001002811,p.G331fs|uc001emb.1,p.G331fs|ENST00000529945,p.G331fs|ENST00000313431,p.G331fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001emb.1	frameshift deletion	exon1	c.992delG	p.G331fs	LPGAKPGPSMTDGVSSGFLNRSLKP	LPGAKPGPSMTDELVPVSLTGL	8.0	7.0	-	-	4166_1:144930717-144930717 C>-_LPGAKPGPSMTDELVPVSLTGL
9:140648726-140648726 A>T	1.0	4166	COLON	-	-	-	-	EHMT1	uc004cob.1,p.K420M|NM_024757,p.K451M|ENST00000462484,p.K451M|uc011mfc.2,p.K451M|NM_001145527,p.K451M|ENST00000334856,p.K420M|ENST00000462942,p.K70M|ENST00000460843,p.K451M|uc004coa.3,p.K451M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mfc.2	nonsynonymous SNV	exon8	c.A1352T	p.K451M	KPARKRRRRSRKKPSGALGSESYKS	KPARKRRRRSRKMPSGALGSESYKS	8.0	5.0	-	-	4166_9:140648726-140648726 A>T_KPARKRRRRSRKMPSGALGSESYKS
6:56347632-56347632 G>A	1.0	4166	COLON	-	-	-	-	DST	uc021zaz.2,p.A4787V|uc021zba.2,p.A4965V|NM_001144770,p.A4827V|ENST00000370788,p.A4678V|ENST00000370769,p.A6875V|ENST00000244364,p.A4461V|NM_001144769,p.A4965V|ENST00000421834,p.A4787V|NM_183380,p.A4787V|uc003pcy.4,p.A4461V|uc021zay.2,p.A4827V|ENST00000361203,p.A6764V|NM_015548,p.A4461V|ENST00000370754,p.A7053V|ENST00000446842,p.A6549V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zba.2	nonsynonymous SNV	exon83	c.C14894T	p.A4965V	QKELGKRTSSVQALKRSARELIEGS	QKELGKRTSSVQVLKRSARELIEGS	9.0	2.0	-	-	4166_6:56347632-56347632 G>A_QKELGKRTSSVQVLKRSARELIEGS
17:7487200-7487200 G>A	1.0	4166	COLON	-	-	-	-	MPDU1	ENST00000572936,p.G7E|ENST00000579445,p.G7E|ENST00000359822,p.G7E|uc002ghx.3,p.G7E|ENST00000571822,p.G7E|uc002ghw.3,p.G7E|ENST00000423172,p.G7E|uc010vuc.1,p.G7E|ENST00000584378,p.G7E|ENST00000580708,p.G7E|ENST00000572719,p.G7E|ENST00000582151,p.G7E|ENST00000396501,p.G7E|ENST00000576066,p.G7E|ENST00000580834,p.G7E|NM_004870,p.G7E|ENST00000584479,p.G7E|ENST00000250124,p.G7E	retained_intron, protein_coding, nonsense_mediated_decay	uc010vuc.1	nonsynonymous SNV	exon1	c.G20A	p.G7E	MAAEADGPLKRLLVPILLP	MAAEADEPLKRLLVPILLP	10.0	6.0	-	-	4166_17:7487200-7487200 G>A_MAAEADEPLKRLLVPILLP
5:118506057-118506057 ->G	0.0	4166	COLON	-	-	-	-	DMXL1	uc010jcl.1,p.L1857fs|uc021ycw.1,p.L1684fs|NM_005509,p.L1857fs|NM_001290321,p.L1857fs|ENST00000539542,p.L1857fs|ENST00000311085,p.L1857fs|uc003ksd.2,p.L1857fs|NM_001290322,p.L1684fs	retained_intron, protein_coding, processed_transcript	uc021ycw.1	frameshift insertion	exon24	c.5052_5053insG	p.L1684fs	GLAGTINLSERRLFFTTASAHLKAG	GLAGTINLSERRLVFYHCQCSFKSWLPNVGFGSIIKDA	6.0	10.0	-	-	4166_5:118506057-118506057 ->G_GLAGTINLSERRLVFYHCQCSFKSWLPNVGFGSIIKDA
7:157015950-157015950 G>A	1.0	4166	COLON	-	-	-	-	UBE3C	uc003wni.4,p.G32S	retained_intron, protein_coding, nonsense_mediated_decay	uc003wni.4	nonsynonymous SNV	exon1	c.G94A	p.G32S	SELIKVLKCVLVGLESPPLSVSEER	SELIKVLKCVLVSLESPPLSVSEER	8.0	9.0	-	-	4166_7:157015950-157015950 G>A_SELIKVLKCVLVSLESPPLSVSEER
6:28327678-28327678 G>C	1.0	4166	COLON	-	-	-	-	ZKSCAN3	uc003nle.4,p.W105C|NM_001242894,p.W105C|uc010jrc.3,p.W105C|ENST00000252211,p.W105C|NM_024493,p.W105C|ENST00000377255,p.W105C	protein_coding	uc010jrc.3	nonsynonymous SNV	exon3	c.G315C	p.W105C	QFLTILPGNLQSWVREQHPESGEEV	QFLTILPGNLQSCVREQHPESGEEV	6.0	10.0	-	-	4166_6:28327678-28327678 G>C_QFLTILPGNLQSCVREQHPESGEEV
X:32862936-32862936 A>C	0.0	4166	COLON	-	-	-	-	DMD	NM_004009,p.N72K|uc004ddf.3,p.N68K|uc004dcy.1,p.N72K|NM_000109,p.N68K|ENST00000288447,p.N68K|uc004dda.1,p.N76K|ENST00000447523,p.N39K|ENST00000378677,p.N72K|NM_004006,p.N76K|ENST00000357033,p.N76K|uc004ddb.1,p.N68K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddf.3	nonsynonymous SNV	exon4	c.T204G	p.N68K	KEKGSTRVHALNNVNKALRVLQNNN	KEKGSTRVHALNKVNKALRVLQNNN	6.0	4.0	-	-	4166_X:32862936-32862936 A>C_KEKGSTRVHALNKVNKALRVLQNNN
1:22201452-22201452 C>T	1.0	4166	COLON	-	-	-	-	HSPG2	uc009vqd.3,p.G1117S|uc001bfj.3,p.G1116S|ENST00000374695,p.G1116S|NM_005529,p.G1116S|NM_001291860,p.G1117S	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vqd.3	nonsynonymous SNV	exon26	c.G3349A	p.G1117S	GISMDVAVPEETGQDPALEVEQCSC	GISMDVAVPEETSQDPALEVEQCSC	9.0	10.0	-	-	4166_1:22201452-22201452 C>T_GISMDVAVPEETSQDPALEVEQCSC
11:64564162-64564162 C>T	1.0	4166	COLON	-	-	-	-	MAP4K2	ENST00000377350,p.E498K|uc001obi.3,p.E498K|ENST00000294066,p.E506K|NM_004579,p.E506K|uc001obh.3,p.E506K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001obi.3	nonsynonymous SNV	exon22	c.G1492A	p.E498K	PVTRDQFLVVGAEEGIYTLNLHELH	PVTRDQFLVVGAKEGIYTLNLHELH	8.0	6.0	-	-	4166_11:64564162-64564162 C>T_PVTRDQFLVVGAKEGIYTLNLHELH
9:132395104-132395104 A>G	1.0	4166	COLON	-	-	-	-	NTMT1	NM_001286799,p.D41G|NM_001286798,p.D41G|NM_001286797,p.D41G|NM_001286796,p.D41G|ENST00000459968,p.D41G|ENST00000372486,p.D41G|ENST00000372481,p.D41G|NM_001286800,p.D41G|NM_001286801,p.D41G|NM_014064,p.D41G|ENST00000372480,p.D41G|uc004byd.1,p.D41G|ENST00000372483,p.D41G|uc011mbs.1,p.D41G	protein_coding, processed_transcript	uc011mbs.1	nonsynonymous SNV	exon2	c.A122G	p.D41G	GMLGGYGHISSIDINSSRKFLQRFL	GMLGGYGHISSIGINSSRKFLQRFL	9.0	8.0	-	-	4166_9:132395104-132395104 A>G_GMLGGYGHISSIGINSSRKFLQRFL
19:21991062-21991062 A>T	0.0	4166	COLON	-	-	-	-	ZNF43	uc031rkb.1,p.F528I|NM_001256651,p.F528I|NM_001256648,p.F587I|uc002nqm.4,p.F587I|NM_001256654,p.F528I|uc010ecv.4,p.F587I|NM_001256653,p.F602I|NM_001256649,p.F587I|ENST00000354959,p.F593I|uc002nqj.4,p.F593I|ENST00000598381,p.F587I|uc031rka.1,p.F602I|NM_001256650,p.F587I|uc002nql.4,p.F587I|NM_003423,p.F593I|ENST00000595461,p.F587I|ENST00000594012,p.F587I|uc002nqk.4,p.F528I	retained_intron, protein_coding, processed_transcript	uc031rkb.1	nonsynonymous SNV	exon3	c.T1582A	p.F528I	LTTHKKIHTGEKFYKCEECGKAFTQ	LTTHKKIHTGEKIYKCEECGKAFTQ	8.0	6.0	unscreened	-	4166_19:21991062-21991062 A>T_LTTHKKIHTGEKIYKCEECGKAFTQ
9:116840383-116840383 T>C	1.0	4166	COLON	-	-	-	-	AMBP	ENST00000603230,p.N36S|ENST00000265132,p.N36S|uc004bie.4,p.N36S|NM_001633,p.N36S	protein_coding, processed_transcript	uc004bie.4	nonsynonymous SNV	exon1	c.A107G	p.N36S	TPPDNIQVQENFNISRIYGKWYNLA	TPPDNIQVQENFSISRIYGKWYNLA	6.0	10.0	-	-	4166_9:116840383-116840383 T>C_TPPDNIQVQENFSISRIYGKWYNLA
1:176145124-176145124 T>C	1.0	4166	COLON	-	-	-	-	RFWD2	uc001gkv.1,p.S163G|ENST00000308769,p.S163G|uc001gkt.1,p.S22G|ENST00000367669,p.S163G|uc001gku.1,p.S163G|NM_001001740,p.S163G|ENST00000491600,p.S22G|ENST00000367666,p.S18G|NM_022457,p.S163G|ENST00000498306,p.S22G	retained_intron, protein_coding, nonsense_mediated_decay	uc001gkv.1	nonsynonymous SNV	exon3	c.A487G	p.S163G	CGHSFCYKCIHQSLEDNNRCPKCNY	CGHSFCYKCIHQGLEDNNRCPKCNY	10.0	4.0	-	-	4166_1:176145124-176145124 T>C_CGHSFCYKCIHQGLEDNNRCPKCNY
4:55143614-55143614 A>C	0.0	4166	COLON	-	-	-	1	PDGFRA	uc003han.4,p.S616R|NM_006206,p.S616R|uc003haa.3,p.S376R|ENST00000509490,p.S616R|uc010igq.1,p.S510R|ENST00000507166,p.S376R|ENST00000257290,p.S616R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010igq.1	nonsynonymous SNV	exon12	c.A1528C	p.S510R	FGKVVEGTAYGLSRSQPVMKVAVKM	FGKVVEGTAYGLRRSQPVMKVAVKM	9.0	5.0	-	-	4166_4:55143614-55143614 A>C_FGKVVEGTAYGLRRSQPVMKVAVKM
1:158390011-158390011 C>A	0.0	4166	COLON	-	-	-	-	OR10K2	NM_001004476,p.V216L|ENST00000314902,p.V216L|uc010pii.2,p.V216L	protein_coding	uc010pii.2	nonsynonymous SNV	exon1	c.G646T	p.V216L	TLVLAIPLLLILVSYVHILSAILQF	TLVLAIPLLLILLSYVHILSAILQF	1.0	10.0	-	-	4166_1:158390011-158390011 C>A_TLVLAIPLLLILLSYVHILSAILQF
7:37953871-37953871 T>G	0.0	4166	COLON	-	-	-	1	SFRP4	uc003tfo.4,p.K179T|NM_003014,p.K179T|ENST00000447200,p.K45T|ENST00000436072,p.K179T	retained_intron, protein_coding	uc003tfo.4	nonsynonymous SNV	exon3	c.A536C	p.K179T	DVDCKRLSPDRCKCKKVKPTLATYL	DVDCKRLSPDRCTCKKVKPTLATYL	8.0	1.0	-	-	4166_7:37953871-37953871 T>G_DVDCKRLSPDRCTCKKVKPTLATYL
6:136934361-136934361 C>G	0.0	4166	COLON	-	-	-	-	MAP3K5	uc011edj.2,p.G18A|NM_005923,p.G771A|uc003qhc.3,p.G771A|ENST00000359015,p.G771A|ENST00000355845,p.G18A|uc011edk.1,p.G616A	protein_coding, processed_transcript	uc011edk.1	nonsynonymous SNV	exon17	c.G1847C	p.G616A	GGSLSALLRSKWGPLKDNEQTIGFY	GGSLSALLRSKWAPLKDNEQTIGFY	6.0	3.0	-	-	4166_6:136934361-136934361 C>G_GGSLSALLRSKWAPLKDNEQTIGFY
3:42577628-42577628 G>A	1.0	4166	COLON	-	-	-	-	VIPR1	uc011azm.1,p.G200D|uc003clf.2,p.G410D|NM_004624,p.G410D|ENST00000325123,p.G410D|uc011azn.2,p.G383D|uc011azl.1,p.G362D|NM_001251883,p.G200D|NM_001251885,p.G383D|NM_001251884,p.G362D|NM_001251882,p.G369D|ENST00000543411,p.G362D|ENST00000438259,p.G200D|ENST00000433647,p.G369D|uc003clg.2,p.G55D|uc021wwl.1,p.G369D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wwl.1	nonsynonymous SNV	exon14	c.G1106A	p.G369D	ELRRKWRRWHLQGVLGWNPKYRHPS	ELRRKWRRWHLQDVLGWNPKYRHPS	7.0	7.0	-	-	4166_3:42577628-42577628 G>A_ELRRKWRRWHLQDVLGWNPKYRHPS
10:120354567-120354567 C>T	0.0	4166	COLON	-	-	-	-	PRLHR	uc021pzm.1,p.V64M|ENST00000239032,p.V64M|uc001ldp.1,p.V64M|ENST00000369169,p.V64M|NM_004248,p.V64M	protein_coding	uc021pzm.1	nonsynonymous SNV	exon1	c.G190A	p.V64M	SLQLVHQLKGLIVLLYSVVVVVGLV	SLQLVHQLKGLIMLLYSVVVVVGLV	1.0	10.0	-	-	4166_10:120354567-120354567 C>T_SLQLVHQLKGLIMLLYSVVVVVGLV
5:80388670-80388670 C>T	0.0	4166	COLON	-	-	ID=COSM1438895;OCCURENCE=1(large_intestine)	-	RASGRF2	ENST00000265080,p.R481C|uc003kha.2,p.R481C|NM_006909,p.R481C|ENST00000503795,p.R481C	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kha.2	nonsynonymous SNV	exon10	c.C1441T	p.R481C	VPSVERGKLSKVRLGSLSLKKEGER	VPSVERGKLSKVCLGSLSLKKEGER	5.0	8.0	-	-	4166_5:80388670-80388670 C>T_VPSVERGKLSKVCLGSLSLKKEGER
8:17419549-17419549 T>A	0.0	4166	COLON	-	-	-	-	SLC7A2	ENST00000398090,p.L573H|ENST00000004531,p.L574H|ENST00000494857,p.L534H|ENST00000522656,p.L534H|uc011kyd.2,p.L573H|uc011kyc.2,p.L534H|ENST00000470360,p.L573H|NM_001008539,p.L534H|NM_001164771,p.L574H|uc011kye.2,p.L574H|NM_003046,p.L573H	protein_coding	uc011kye.2	nonsynonymous SNV	exon10	c.T1721A	p.L574H	LEAWSLALLALFLVLFVAIVLTIWR	LEAWSLALLALFHVLFVAIVLTIWR	4.0	4.0	-	-	4166_8:17419549-17419549 T>A_LEAWSLALLALFHVLFVAIVLTIWR
14:75139788-75139788 T>G	1.0	4166	COLON	-	-	-	-	AREL1	ENST00000555330,p.K431T|uc001xqb.3,p.K431T|ENST00000556202,p.K270T|NM_001039479,p.K431T|ENST00000356357,p.K431T|uc010tut.1,p.K270T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tut.1	nonsynonymous SNV	exon9	c.A809C	p.K270T	NILAATFIRSLHKNIGGSETFQDKV	NILAATFIRSLHTNIGGSETFQDKV	8.0	1.0	-	-	4166_14:75139788-75139788 T>G_NILAATFIRSLHTNIGGSETFQDKV
5:140724481-140724481 T>C	0.0	4166	COLON	-	-	-	-	PCDHGA3	ENST00000253812,p.L294P|uc011dap.2,p.L294P|NM_018916,p.L294P|NM_032011,p.L294P|uc003ljm.2,p.L294P	protein_coding	uc011dap.2	nonsynonymous SNV	exon1	c.T881C	p.L294P	DKMPGKIAEIFHLNSVSGEVSILKS	DKMPGKIAEIFHPNSVSGEVSILKS	3.0	3.0	unscreened	-	4166_5:140724481-140724481 T>C_DKMPGKIAEIFHPNSVSGEVSILKS
16:27517340-27517340 C>A	1.0	4166	COLON	-	-	-	-	GTF3C1	ENST00000356183,p.R550S|ENST00000561623,p.R550S|NM_001286242,p.R550S|uc002dov.2,p.R550S|NM_001520,p.R550S|uc002dou.3,p.R550S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dov.2	nonsynonymous SNV	exon10	c.G1650T	p.R550S	AAEERACQSLASRDSLLDTSSVSEP	AAEERACQSLASSDSLLDTSSVSEP	9.0	7.0	-	-	4166_16:27517340-27517340 C>A_AAEERACQSLASSDSLLDTSSVSEP
19:407925-407925 G>A	0.0	4166	COLON	-	-	-	-	C2CD4C	NM_001136263,p.T146M|ENST00000332235,p.T146M|uc021ulv.1,p.T146M|uc002loo.3,p.T146M	protein_coding	uc021ulv.1	nonsynonymous SNV	exon1	c.C437T	p.T146M	GAMSLPSVPKAQTSYGFAMLAESPH	GAMSLPSVPKAQMSYGFAMLAESPH	2.0	8.0	-	-	4166_19:407925-407925 G>A_GAMSLPSVPKAQMSYGFAMLAESPH
7:883028-883028 G>A	1.0	4166	COLON	-	-	-	-	SUN1	NM_025154,p.A127T|uc010ksa.1,p.A198T|uc021zym.1,p.A177T|ENST00000456758,p.A235T|ENST00000425407,p.A127T|ENST00000457378,p.A198T|ENST00000403868,p.A177T|NM_001171946,p.A177T|ENST00000389574,p.A127T|ENST00000401592,p.A177T|NM_001130965,p.A177T|NM_001171945,p.A198T|uc021zyl.1,p.A177T|uc003sjf.3,p.A127T|ENST00000405266,p.A177T|uc003sje.1,p.A177T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zym.1	nonsynonymous SNV	exon5	c.G529A	p.A177T	AIQGNGDVGAAAATAHNGFSCSNCS	AIQGNGDVGAAATTAHNGFSCSNCS	9.0	10.0	-	-	4166_7:883028-883028 G>A_AIQGNGDVGAAATTAHNGFSCSNCS
16:28948989-28948989 G>A	0.0	4166	COLON	-	-	-	-	CD19	ENST00000324662,p.A473T|ENST00000567541,p.A473T|NM_001770,p.A473T|uc002drs.3,p.A473T|NM_001178098,p.A473T|ENST00000538922,p.A473T|uc010byo.2,p.A473T	retained_intron, protein_coding	uc010byo.2	nonsynonymous SNV	exon11	c.G1417A	p.A473T	YENEDEELTQPVARTMDFLSPHGSA	YENEDEELTQPVTRTMDFLSPHGSA	5.0	8.0	-	-	4166_16:28948989-28948989 G>A_YENEDEELTQPVTRTMDFLSPHGSA
15:28447657-28447657 G>T	1.0	4166	COLON	-	-	-	-	HERC2	ENST00000261609,p.A2439D|uc001zbj.4,p.A2439D|NM_004667,p.A2439D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zbj.4	nonsynonymous SNV	exon46	c.C7316A	p.A2439D	EDCSSSEATTPVAVQHIRPARVKRR	EDCSSSEATTPVDVQHIRPARVKRR	9.0	2.0	-	-	4166_15:28447657-28447657 G>T_EDCSSSEATTPVDVQHIRPARVKRR
9:117844989-117844989 C>A	0.0	4166	COLON	-	-	-	2	TNC	NM_002160,p.E743D|uc010mvf.3,p.E743D|ENST00000537320,p.E743D|ENST00000350763,p.E743D|ENST00000341037,p.E743D|ENST00000340094,p.E743D|uc022bmj.1,p.E743D|ENST00000542877,p.E743D|ENST00000535648,p.E743D|ENST00000346706,p.E743D|uc004bjj.4,p.E743D|ENST00000345230,p.E743D|ENST00000423613,p.E743D	protein_coding, processed_transcript	uc022bmj.1	nonsynonymous SNV	exon4	c.G2229T	p.E743D	EWDPLDIAFETWEIIFRNMNKEDEG	EWDPLDIAFETWDIIFRNMNKEDEG	8.0	9.0	-	-	4166_9:117844989-117844989 C>A_EWDPLDIAFETWDIIFRNMNKEDEG
9:32423409-32423409 T>G	1.0	4166	COLON	-	-	-	-	ACO1	NM_001278352,p.F355V|uc003zqw.4,p.F355V|ENST00000309951,p.F355V|ENST00000379923,p.F355V|uc010mjh.1,p.F189V|ENST00000541043,p.F256V|NM_002197,p.F355V|uc003zqx.4,p.F355V	protein_coding	uc010mjh.1	nonsynonymous SNV	exon8	c.T565G	p.F189V	FRDFNDPSQDPDFTQVVELDLKTVV	FRDFNDPSQDPDVTQVVELDLKTVV	8.0	4.0	-	-	4166_9:32423409-32423409 T>G_FRDFNDPSQDPDVTQVVELDLKTVV
20:55910962-55910962 C>T	0.0	4166	COLON	-	-	-	-	SPO11	ENST00000494972,p.T78M	protein_coding, nonsense_mediated_decay	ENST00000494972	nonsynonymous SNV	exon3	c.C233T	p.T78M	NFCNKLSPCIMITSTPVFQHLKSKG	NFCNKLSPCIMIMSTPVFQHLKSKG	1.0	1.0	-	-	4166_20:55910962-55910962 C>T_NFCNKLSPCIMIMSTPVFQHLKSKG
12:56142669-56142669 C>T	1.0	4166	COLON	-	-	-	-	GDF11	uc001shq.3,p.R249C|ENST00000257868,p.R249C|uc031qhy.1,p.R109C|NM_005811,p.R249C	protein_coding	uc031qhy.1	nonsynonymous SNV	exon1	c.C325T	p.R109C	SIDFKQVLHSWFRQPQSNWGIEINA	SIDFKQVLHSWFCQPQSNWGIEINA	8.0	7.0	-	-	4166_12:56142669-56142669 C>T_SIDFKQVLHSWFCQPQSNWGIEINA
11:18101966-18101966 T>G	1.0	4166	COLON	-	-	-	-	SAAL1	ENST00000529318,p.S471R|uc001mnq.3,p.S469R|ENST00000300013,p.S468R|NM_138421,p.S469R|ENST00000524803,p.S469R|uc001mnr.3,p.S468R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mnr.3	nonsynonymous SNV	exon12	c.A1402C	p.S468R	KALADDLEKNFPSLKVQT	KALADDLEKNFPRLKVQT	9.0	3.0	unscreened	-	4166_11:18101966-18101966 T>G_KALADDLEKNFPRLKVQT
19:44591005-44591005 G>T	0.0	4166	COLON	-	-	-	-	ZNF284	ENST00000421176,p.K458N|uc002oyg.1,p.K458N|NM_001037813,p.K458N	protein_coding	uc002oyg.1	nonsynonymous SNV	exon5	c.G1374T	p.K458N	QRVHTGERPYNCKECGKSFRWASGI	QRVHTGERPYNCNECGKSFRWASGI	5.0	7.0	-	-	4166_19:44591005-44591005 G>T_QRVHTGERPYNCNECGKSFRWASGI
7:63537916-63537916 T>G	0.0	4166	COLON	-	-	-	-	ZNF727	NM_001159522,p.H163Q|ENST00000550760,p.H163Q|uc011kdm.2,p.H163Q	protein_coding	uc011kdm.2	nonsynonymous SNV	exon4	c.T489G	p.H163Q	GKAFGLCSIFTEHKKIFSREKCYKC	GKAFGLCSIFTEQKKIFSREKCYKC	1.0	9.0	-	-	4166_7:63537916-63537916 T>G_GKAFGLCSIFTEQKKIFSREKCYKC
6:44243477-44243477 C>T	0.0	4166	COLON	-	-	-	-	TMEM151B	ENST00000451188,p.A305V|NM_001137560,p.A305V|uc003oxh.2,p.A305V	protein_coding, nonsense_mediated_decay	uc003oxh.2	nonsynonymous SNV	exon3	c.C914T	p.A305V	PPWYACSSAFWAAALLTLSWPLRVL	PPWYACSSAFWAVALLTLSWPLRVL	3.0	5.0	-	-	4166_6:44243477-44243477 C>T_PPWYACSSAFWAVALLTLSWPLRVL
11:123908912-123908912 G>A	0.0	4166	COLON	-	-	-	-	OR10G7	ENST00000330487,p.A266V|uc001pzq.1,p.A266V|NM_001004463,p.A266V	protein_coding	uc001pzq.1	nonsynonymous SNV	exon1	c.C797T	p.A266V	GLFIYLRPGSRDALHGVVAVFYTTL	GLFIYLRPGSRDVLHGVVAVFYTTL	1.0	8.0	-	-	4166_11:123908912-123908912 G>A_GLFIYLRPGSRDVLHGVVAVFYTTL
19:15510185-15510185 T>C	1.0	4166	COLON	-	-	-	-	AKAP8L	NM_014371,p.K362R|uc010xoh.1,p.K301R|ENST00000397410,p.K362R|uc002naw.1,p.K362R|ENST00000595465,p.K301R|NM_001291478,p.K301R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xoh.1	nonsynonymous SNV	exon9	c.A902G	p.K301R	GALTTQDENGQTKRKLQAGKKSQDK	GALTTQDENGQTRRKLQAGKKSQDK	9.0	2.0	-	-	4166_19:15510185-15510185 T>C_GALTTQDENGQTRRKLQAGKKSQDK
20:55910962-55910962 C>T	0.0	4166	COLON	-	-	-	-	SPO11	ENST00000345868,p.T210M|uc002xyf.3,p.T210M|ENST00000371263,p.T248M|ENST00000418127,p.T224M|uc002xye.3,p.T248M|NM_012444,p.T248M|ENST00000371260,p.T206M|NM_198265,p.T210M	protein_coding, nonsense_mediated_decay	uc002xyf.3	nonsynonymous SNV	exon7	c.C629T	p.T210M	NFCNKLSPCIMITGKGVPDLNTRLL	NFCNKLSPCIMIMGKGVPDLNTRLL	1.0	1.0	-	-	4166_20:55910962-55910962 C>T_NFCNKLSPCIMIMGKGVPDLNTRLL
12:6128050-6128050 C>T	0.0	4166	COLON	-	-	-	-	VWF	ENST00000261405,p.A1512T|NM_000552,p.A1512T|uc001qnn.1,p.A1512T	protein_coding, processed_transcript, nonsense_mediated_decay	uc001qnn.1	nonsynonymous SNV	exon28	c.G4534A	p.A1512T	AFVLEGSDKIGEADFNRSKEFMEEV	AFVLEGSDKIGETDFNRSKEFMEEV	7.0	9.0	-	-	4166_12:6128050-6128050 C>T_AFVLEGSDKIGETDFNRSKEFMEEV
19:47539381-47539381 G>A	0.0	4166	COLON	-	-	-	-	NPAS1	uc010xyj.2,p.E52K|ENST00000602212,p.E228K|ENST00000594670,p.E52K|ENST00000449844,p.E228K|ENST00000602189,p.E52K|NM_002517,p.E228K|uc002pfy.3,p.E228K|ENST00000439365,p.E52K|uc002pfw.3,p.E228K	retained_intron, protein_coding, nonsense_mediated_decay	uc010xyj.2	nonsynonymous SNV	exon2	c.G154A	p.E52K	SSSSSSSLADTPEIEASLTKVPPSS	SSSSSSSLADTPKIEASLTKVPPSS	4.0	10.0	-	-	4166_19:47539381-47539381 G>A_SSSSSSSLADTPKIEASLTKVPPSS
7:33767519-33767519 T>C	0.0	4166	COLON	-	-	-	-	BBS9,BMPER	ENST00000311067,p.L93P|uc003tdu.3,p.L93P	protein_coding	uc003tdu.3	nonsynonymous SNV	exon2	c.T278C	p.L93P	SPAPPHPTPQALLVGVGQGELSGMP	SPAPPHPTPQALPVGVGQGELSGMP	1.0	2.0	unscreened	-	4166_7:33767519-33767519 T>C_SPAPPHPTPQALPVGVGQGELSGMP
10:135044669-135044669 C>T	0.0	4166	COLON	-	-	-	-	UTF1	ENST00000304477,p.P250L|NM_003577,p.P250L|uc001lmc.3,p.P250L	protein_coding	uc001lmc.3	nonsynonymous SNV	exon2	c.C749T	p.P250L	APVRGPGSPPPPPAREDPDSPPGRP	APVRGPGSPPPPLAREDPDSPPGRP	1.0	10.0	-	-	4166_10:135044669-135044669 C>T_APVRGPGSPPPPLAREDPDSPPGRP
1:248756661-248756661 T>G	0.0	4166	COLON	-	-	-	-	OR2T10	ENST00000330500,p.S137R|NM_001004693,p.S137R|uc010pzn.2,p.S137R	protein_coding	uc010pzn.2	nonsynonymous SNV	exon1	c.A409C	p.S137R	AICHPLRYSVLMSHRVCLLLASGCW	AICHPLRYSVLMRHRVCLLLASGCW	1.0	4.0	-	-	4166_1:248756661-248756661 T>G_AICHPLRYSVLMRHRVCLLLASGCW
19:1051966-1051966 C>A	0.0	4166	COLON	-	-	-	-	ABCA7	uc010dsb.1,p.H858Q|ENST00000433129,p.H996Q|ENST00000263094,p.H996Q|NM_019112,p.H996Q|ENST00000435683,p.H858Q|uc002lqw.4,p.H996Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dsb.1	nonsynonymous SNV	exon16	c.C2574A	p.H858Q	KYREGRTLILSTHHLDEAELLGDRV	KYREGRTLILSTQHLDEAELLGDRV	6.0	3.0	unscreened	-	4166_19:1051966-1051966 C>A_KYREGRTLILSTQHLDEAELLGDRV
11:22271827-22271827 G>A	0.0	4166	COLON	-	-	-	-	ANO5	uc001mqj.2,p.G307E|uc001mqi.2,p.G308E|ENST00000324559,p.G308E|NM_213599,p.G308E|NM_001142649,p.G307E	protein_coding, processed_transcript	uc001mqj.2	nonsynonymous SNV	exon10	c.G920A	p.G307E	YGEKIGIYFVFLGFYTEMLFFAAVV	YGEKIGIYFVFLEFYTEMLFFAAVV	2.0	3.0	-	-	4166_11:22271827-22271827 G>A_YGEKIGIYFVFLEFYTEMLFFAAVV
6:10961591-10961591 T>G	0.0	4166	COLON	-	-	-	-	SYCP2L	uc010jow.3,p.L390R|ENST00000283141,p.L770R|uc003mzo.3,p.L770R|NM_001040274,p.L770R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jow.3	nonsynonymous SNV	exon23	c.T1169G	p.L390R	RFQNLVLQELSSLKQDIQALEHLEK	RFQNLVLQELSSRKQDIQALEHLEK	5.0	4.0	-	-	4166_6:10961591-10961591 T>G_RFQNLVLQELSSRKQDIQALEHLEK
17:76450771-76450771 G>A	0.0	4166	COLON	-	-	-	-	DNAH17	NM_173628,p.T3396M|ENST00000585328,p.T3391M|uc010dhp.2,p.T3396M|ENST00000389840,p.T3382M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon64	c.C10187T	p.T3396M	PYIHNLKVPIPITNGLDPLSLLTDD	PYIHNLKVPIPIMNGLDPLSLLTDD	4.0	6.0	-	-	4166_17:76450771-76450771 G>A_PYIHNLKVPIPIMNGLDPLSLLTDD
4:27009606-27009606 T>G	0.0	4166	COLON	-	-	-	-	STIM2	ENST00000465503,p.V384G|NM_001169118,p.V384G|uc003gsh.4,p.V384G|ENST00000382009,p.V471G	retained_intron, protein_coding, processed_transcript	uc003gsh.4	nonsynonymous SNV	exon9	c.T1151G	p.V384G	NAEMQLAIAKDEVAASYLIQAEKIK	NAEMQLAIAKDEGAASYLIQAEKIK	8.0	3.0	-	-	4166_4:27009606-27009606 T>G_NAEMQLAIAKDEGAASYLIQAEKIK
15:90192996-90192996 G>A	0.0	4166	COLON	-	-	-	-	KIF7	uc002bof.2,p.R169W|ENST00000394412,p.R169W|uc002bog.2,p.R46W|NM_198525,p.R169W	protein_coding, processed_transcript, nonsense_mediated_decay	uc002bog.2	nonsynonymous SNV	exon3	c.C136T	p.R46W	LEVGTASRDIQLREDERGNVVLCGV	LEVGTASRDIQLWEDERGNVVLCGV	5.0	10.0	-	-	4166_15:90192996-90192996 G>A_LEVGTASRDIQLWEDERGNVVLCGV
5:158500470-158500470 C>T	0.0	4166	COLON	-	-	-	1	EBF1	NM_024007,p.R163H|uc010jip.3,p.R163H|NM_001290360,p.R163H|ENST00000313708,p.R163H|ENST00000517373,p.R163H|uc011ddx.3,p.R149H|uc011ddw.2,p.R30H	retained_intron, protein_coding, processed_transcript	uc011ddx.3	nonsynonymous SNV	exon6	c.G446A	p.R149H	CRVLLTHEIMCSRCCDKKSCGNRNE	CRVLLTHEIMCSHCCDKKSCGNRNE	5.0	5.0	-	-	4166_5:158500470-158500470 C>T_CRVLLTHEIMCSHCCDKKSCGNRNE
19:50455562-50455562 C>T	0.0	4166	COLON	-	-	ID=COSM1129756;OCCURENCE=1(prostate)	-	SIGLEC11	uc010ybi.2,p.V485I|ENST00000426971,p.V485I|NM_052884,p.V581I|NM_001135163,p.V485I|ENST00000447370,p.V581I|uc010ybh.2,p.V581I	protein_coding, nonsense_mediated_decay	uc010ybi.2	nonsynonymous SNV	exon8	c.G1453A	p.V485I	VAALLAFCSCLVVFRVKICRKEARK	VAALLAFCSCLVIFRVKICRKEARK	3.0	2.0	-	-	4166_19:50455562-50455562 C>T_VAALLAFCSCLVIFRVKICRKEARK
5:136957797-136957797 T>C	0.0	4166	COLON	-	-	-	-	KLHL3	NM_001257195,p.K503R|ENST00000508657,p.K553R|NM_017415,p.K585R|uc003lbr.5,p.K503R|uc010jek.3,p.K585R|ENST00000309755,p.K585R|uc011cyc.2,p.K320R|uc031sle.1,p.K553R|ENST00000506491,p.K503R|NM_001257194,p.K553R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sle.1	nonsynonymous SNV	exon15	c.A1658G	p.K553R	TGRSYAGVAVIHKSL	TGRSYAGVAVIHRSL	5.0	1.0	unscreened	-	4166_5:136957797-136957797 T>C_TGRSYAGVAVIHRSL
16:77822679-77822679 C>T	0.0	4166	COLON	-	-	-	-	VAT1L	ENST00000302536,p.H34Y|NM_020927,p.H34Y|uc002ffg.1,p.H34Y	protein_coding, processed_transcript	uc002ffg.1	nonsynonymous SNV	exon1	c.C100T	p.H34Y	KEPAEGGGGDGSHRLGDAQEMRAVV	KEPAEGGGGDGSYRLGDAQEMRAVV	5.0	1.0	unscreened	-	4166_16:77822679-77822679 C>T_KEPAEGGGGDGSYRLGDAQEMRAVV
15:79750584-79750584 T>G	0.0	4166	COLON	-	-	-	-	KIAA1024	uc010unk.1,p.L699V|ENST00000305428,p.L699V|uc002bew.1,p.L699V|NM_015206,p.L699V|ENST00000559272,p.L699V	protein_coding, nonsense_mediated_decay	uc010unk.1	nonsynonymous SNV	exon1	c.T2095G	p.L699V	SGSNSESLRVKALKKSLFTRPSSRS	SGSNSESLRVKAVKKSLFTRPSSRS	3.0	2.0	-	-	4166_15:79750584-79750584 T>G_SGSNSESLRVKAVKKSLFTRPSSRS
2:40656711-40656711 A>C	0.0	4166	COLON	-	-	-	-	SLC8A1	ENST00000403092,p.L237R|uc002rsc.1,p.L237R|ENST00000408028,p.L237R|uc002rrz.3,p.L237R|ENST00000332839,p.L237R|uc002rsd.4,p.L237R|uc010fan.1,p.L237R|ENST00000407929,p.L234R|ENST00000402441,p.L237R|uc002rsa.3,p.L237R|ENST00000542024,p.L237R|uc002rry.3,p.L237R|ENST00000405269,p.L237R|NM_001112800,p.L237R|NM_001112801,p.L237R|NM_001112802,p.L237R|ENST00000406785,p.L237R|NM_001252624,p.L237R|uc002rrx.3,p.L237R|ENST00000406391,p.L237R|uc002rsb.2,p.L237R|ENST00000405901,p.L237R|NM_021097,p.L237R|ENST00000542756,p.L237R	protein_coding, nonsense_mediated_decay	uc010fan.1	nonsynonymous SNV	exon3	c.T710G	p.L237R	ISPGVVEVWEGLLTFFFFPICVVFA	ISPGVVEVWEGLRTFFFFPICVVFA	5.0	2.0	-	-	4166_2:40656711-40656711 A>C_ISPGVVEVWEGLRTFFFFPICVVFA
2:231775242-231775242 A>C	0.0	4166	COLON	-	-	-	-	GPR55	ENST00000438398,p.W146G|NM_005683,p.W146G|uc002vrg.3,p.W146G|uc010fxs.1,p.W146G|uc021vxz.1,p.W146G|ENST00000392040,p.W146G|ENST00000444078,p.W146G|ENST00000392039,p.W146G	protein_coding, nonsense_mediated_decay	uc021vxz.1	nonsynonymous SNV	exon1	c.T436G	p.W146G	SPRKIFGICCTIWVLVWTGSIPIYS	SPRKIFGICCTIGVLVWTGSIPIYS	3.0	1.0	unscreened	-	4166_2:231775242-231775242 A>C_SPRKIFGICCTIGVLVWTGSIPIYS
19:47539381-47539381 G>A	0.0	4166	COLON	-	-	-	-	NPAS1	ENST00000594257,p.E52K	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000594257	nonsynonymous SNV	exon2	c.G154A	p.E52K	SSSSSSSLADTPEIESATTWTWGPQ	SSSSSSSLADTPKIESATTWTWGPQ	4.0	10.0	-	-	4166_19:47539381-47539381 G>A_SSSSSSSLADTPKIESATTWTWGPQ
16:2987242-2987242 G>A	1.0	4166	COLON	-	-	-	-	FLYWCH1	ENST00000416288,p.R544H|uc002csd.3,p.R545H|NM_020912,p.R544H|ENST00000253928,p.R545H|uc010bsv.3,p.R269H|NM_032296,p.R544H|uc002csb.3,p.R544H|ENST00000399667,p.R594H|uc002csc.3,p.R544H	retained_intron, protein_coding, processed_transcript	uc010bsv.3	nonsynonymous SNV	exon5	c.G806A	p.R269H	GEKVYWTCRDQARMGCRSRAITQGR	GEKVYWTCRDQAHMGCRSRAITQGR	7.0	4.0	-	-	4166_16:2987242-2987242 G>A_GEKVYWTCRDQAHMGCRSRAITQGR
19:2418074-2418074 T>G	0.0	4166	COLON	-	-	-	-	TMPRSS9	ENST00000332578,p.F664V|NM_182973,p.F664V|uc010xgx.2,p.F664V	retained_intron, protein_coding, processed_transcript	uc010xgx.2	nonsynonymous SNV	exon12	c.T1990G	p.F664V	IIDQKTCSVLYNFSLTDRMICAGFL	IIDQKTCSVLYNVSLTDRMICAGFL	1.0	2.0	-	-	4166_19:2418074-2418074 T>G_IIDQKTCSVLYNVSLTDRMICAGFL
2:98737854-98737854 C>T	0.0	4166	COLON	0.0046	-	ID=COSM148910;OCCURENCE=1(stomach)	-	VWA3B	uc010yvh.2,p.T62M|uc002syo.3,p.T212M|ENST00000448638,p.T212M|uc002sym.3,p.T212M|NM_144992,p.T212M|ENST00000477737,p.T212M|ENST00000416277,p.T212M|ENST00000435344,p.T212M|ENST00000433678,p.T212M|ENST00000451075,p.T62M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yvh.2	nonsynonymous SNV	exon4	c.C185T	p.T62M	SIATAISWVEKLTVELTVSEAGRLD	SIATAISWVEKLMVELTVSEAGRLD	1.0	5.0	-	-	4166_2:98737854-98737854 C>T_SIATAISWVEKLMVELTVSEAGRLD
1:206634601-206634601 A>C	0.0	4166	COLON	-	-	-	-	SRGAP2	ENST00000414007,p.I878L	protein_coding, processed_transcript	ENST00000414007	nonsynonymous SNV	exon19	c.A2632C	p.I878L	PAFQRSASTAGDIACAFRPVKSVKM	PAFQRSASTAGDLACAFRPVKSVKM	7.0	3.0	unscreened	-	4166_1:206634601-206634601 A>C_PAFQRSASTAGDLACAFRPVKSVKM
11:67022438-67022438 G>A	1.0	4166	COLON	-	-	-	-	KDM2A	uc010rpn.3,p.R695Q|uc031qbq.1,p.R592Q|ENST00000529006,p.R1134Q|ENST00000530342,p.R695Q|NM_001256405,p.R695Q|ENST00000308783,p.R592Q|NM_012308,p.R1134Q|uc001ojy.3,p.R828Q|uc001ojw.3,p.R1134Q|uc001oka.3,p.R258Q|uc031qbr.1,p.R1117Q	protein_coding, processed_transcript	uc031qbr.1	nonsynonymous SNV	exon21	c.G3350A	p.R1117Q	TLIDLRGCKQITRKACEHFISDLSI	TLIDLRGCKQITQKACEHFISDLSI	7.0	5.0	-	-	4166_11:67022438-67022438 G>A_TLIDLRGCKQITQKACEHFISDLSI
19:50967735-50967735 C>T	0.0	4166	COLON	0.0018	-	-	-	MYBPC2	uc002psf.2,p.R1121W|NM_004533,p.R1121W|ENST00000357701,p.R1121W	retained_intron, protein_coding	uc002psf.2	nonsynonymous SNV	exon27	c.C3361T	p.R1121W	RPSPFDAGTYTCRAVNELGEALAEC	RPSPFDAGTYTCWAVNELGEALAEC	3.0	7.0	-	-	4166_19:50967735-50967735 C>T_RPSPFDAGTYTCWAVNELGEALAEC
10:102239764-102239764 G>A	0.0	4166	COLON	-	-	ID=COSM913923;OCCURENCE=1(endometrium)	-	WNT8B	NM_003393,p.R79H|ENST00000343737,p.R79H|uc001krb.3,p.R79H	protein_coding	uc001krb.3	nonsynonymous SNV	exon3	c.G236A	p.R79H	ERALQLSSHGGLRSANRETAFVHAI	ERALQLSSHGGLHSANRETAFVHAI	1.0	10.0	-	-	4166_10:102239764-102239764 G>A_ERALQLSSHGGLHSANRETAFVHAI
2:136111065-136111065 A>T	1.0	4166	COLON	-	-	-	-	ZRANB3	uc002tum.3,p.L105Q|ENST00000403017,p.L105Q|uc002tul.3,p.L105Q|ENST00000401392,p.L105Q|ENST00000264159,p.L105Q|NM_001286568,p.L105Q|NM_032143,p.L105Q|ENST00000536680,p.L105Q|uc002tun.1,p.L45Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tun.1	nonsynonymous SNV	exon2	c.T134A	p.L45Q	PWTEEIEKWIPELSPEEINVIQNKT	PWTEEIEKWIPEQSPEEINVIQNKT	7.0	7.0	-	-	4166_2:136111065-136111065 A>T_PWTEEIEKWIPEQSPEEINVIQNKT
19:58152763-58152763 T>A	1.0	4166	COLON	-	-	-	-	ZNF211	NM_198855,p.H303Q|uc002qpp.2,p.H316Q|uc010yhb.1,p.H307Q|ENST00000544273,p.H315Q|NM_006385,p.H316Q|ENST00000391703,p.H242Q|ENST00000240731,p.H316Q|uc031rng.1,p.H368Q|NM_001265597,p.H368Q|uc002qpr.2,p.H367Q|ENST00000299871,p.H368Q|NM_001265599,p.H294Q|uc010yhe.2,p.H294Q|ENST00000254182,p.H294Q|uc031rnh.1,p.H355Q|uc010yhc.1,p.H315Q|uc002qpq.2,p.H303Q|uc002qpt.2,p.H315Q|NM_001265600,p.H242Q|ENST00000347302,p.H303Q|NM_001265598,p.H355Q|uc010yhd.2,p.H242Q|ENST00000541801,p.H294Q|ENST00000420680,p.H307Q	retained_intron, protein_coding, nonsense_mediated_decay	uc031rnh.1	nonsynonymous SNV	exon4	c.T1065A	p.H355Q	GKFFTYYSSFIIHQRVHTGERPYAC	GKFFTYYSSFIIQQRVHTGERPYAC	6.0	6.0	-	-	4166_19:58152763-58152763 T>A_GKFFTYYSSFIIQQRVHTGERPYAC
8:30013906-30013906 G>A	1.0	4166	COLON	-	-	-	-	DCTN6	ENST00000523666,p.E3K|ENST00000221114,p.E3K|ENST00000519830,p.E3K|ENST00000520829,p.E3K|ENST00000522141,p.E3K|uc003xhy.3,p.E3K|NM_006571,p.E3K	retained_intron, protein_coding, nonsense_mediated_decay	uc003xhy.3	nonsynonymous SNV	exon1	c.G7A	p.E3K	MAEKTQKSVKIAPGA	MAKKTQKSVKIAPGA	9.0	6.0	-	-	4166_8:30013906-30013906 G>A_MAKKTQKSVKIAPGA
16:87717810-87717810 A>T	0.0	4166	COLON	-	-	-	-	JPH3	NM_020655,p.E408V|uc002fkd.4,p.E408V|ENST00000284262,p.E408V	protein_coding, processed_transcript	uc002fkd.4	nonsynonymous SNV	exon3	c.A1223T	p.E408V	EAALTAAQKAQEEARIARITAKEFS	EAALTAAQKAQEVARIARITAKEFS	5.0	7.0	-	-	4166_16:87717810-87717810 A>T_EAALTAAQKAQEVARIARITAKEFS
7:131833391-131833391 T>G	0.0	4166	COLON	-	-	-	-	PLXNA4	ENST00000359827,p.S1559R|ENST00000321063,p.S1559R|uc003vra.4,p.S1559R|NM_020911,p.S1559R	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon26	c.A4675C	p.S1559R	KAADMDLEWRQGSGARMILQDEDIT	KAADMDLEWRQGRGARMILQDEDIT	4.0	2.0	-	-	4166_7:131833391-131833391 T>G_KAADMDLEWRQGRGARMILQDEDIT
1:206592725-206592725 G>A	0.0	4166	COLON	-	-	-	-	SRGAP2	uc010prv.1,p.S318N|ENST00000414007,p.S341N|uc010prt.1,p.S317N|ENST00000439126,p.S95N|uc031pry.1,p.S91N	protein_coding, processed_transcript	uc031pry.1	nonsynonymous SNV	exon3	c.G272A	p.S91N	AKHDLLQKTLGESQRTDCSLARRSS	AKHDLLQKTLGENQRTDCSLARRSS	7.0	2.0	-	-	4166_1:206592725-206592725 G>A_AKHDLLQKTLGENQRTDCSLARRSS
12:66704377-66704377 A>T	0.0	4166	COLON	-	-	-	-	HELB	ENST00000440906,p.T557S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000440906	nonsynonymous SNV	exon4	c.A1669T	p.T557S	GLLRQKTGLHAYTLCQVTLDSYPVL	GLLRQKTGLHAYSLCQVTLDSYPVL	4.0	5.0	-	-	4166_12:66704377-66704377 A>T_GLLRQKTGLHAYSLCQVTLDSYPVL
22:30862321-30862321 C>A	0.0	4166	COLON	-	-	-	-	SEC14L3	uc003ahz.3,p.A117S|NM_001257382,p.A135S|NM_001257379,p.A135S|NM_001257378,p.A117S|ENST00000539629,p.A135S|ENST00000401751,p.A135S|ENST00000540910,p.A117S|ENST00000415957,p.A135S|uc003ahy.3,p.A194S|uc003aia.3,p.A135S|NM_174975,p.A194S|uc003aib.3,p.A135S|ENST00000402286,p.A117S|ENST00000403066,p.A135S|ENST00000215812,p.A194S	protein_coding, nonsense_mediated_decay	uc003aib.3	nonsynonymous SNV	exon8	c.G403T	p.A135S	YPETLKFMLIVKATKLFPVGYNLMK	YPETLKFMLIVKSTKLFPVGYNLMK	1.0	8.0	-	-	4166_22:30862321-30862321 C>A_YPETLKFMLIVKSTKLFPVGYNLMK
5:89940553-89940553 A>C	0.0	4166	COLON	-	-	-	-	GPR98	ENST00000405460,p.N922T|uc003kju.3,p.N922T|NM_032119,p.N922T	retained_intron, protein_coding, processed_transcript	uc003kju.3	nonsynonymous SNV	exon15	c.A2765C	p.N922T	YSAVYDVVRNRGNFGDVSVSWVVSP	YSAVYDVVRNRGTFGDVSVSWVVSP	3.0	9.0	-	-	4166_5:89940553-89940553 A>C_YSAVYDVVRNRGTFGDVSVSWVVSP
X:37027806-37027806 A>T	0.0	4166	COLON	-	-	-	2	FAM47C	ENST00000358047,p.E441D|NM_001013736,p.E441D|uc004ddl.2,p.E441D	protein_coding	uc004ddl.2	nonsynonymous SNV	exon1	c.A1323T	p.E441D	EPPKTRGSHLRPEPPETGVSHLRPE	EPPKTRGSHLRPDPPETGVSHLRPE	1.0	3.0	unscreened	-	4166_X:37027806-37027806 A>T_EPPKTRGSHLRPDPPETGVSHLRPE
7:122338654-122338654 G>A	0.0	4166	COLON	-	-	-	-	RNF133	ENST00000340112,p.R107W|NM_139175,p.R107W|uc003vkj.1,p.R107W	protein_coding	uc003vkj.1	nonsynonymous SNV	exon1	c.C319T	p.R107W	SKYSETWLALIERGGCTFTQKIKVA	SKYSETWLALIEWGGCTFTQKIKVA	1.0	9.0	-	-	4166_7:122338654-122338654 G>A_SKYSETWLALIEWGGCTFTQKIKVA
10:23270398-23270398 G>A	0.0	4166	COLON	-	-	-	-	ARMC3	ENST00000298032,p.S349N|ENST00000409983,p.S349N|uc010qcv.2,p.S349N|NM_001282745,p.S349N|uc001irm.4,p.S349N|uc010qcw.2,p.S86N|NM_001282746,p.S349N|NM_001282747,p.S86N|NM_173081,p.S349N|ENST00000409049,p.S349N|ENST00000376528,p.S86N	protein_coding, processed_transcript	uc010qcw.2	nonsynonymous SNV	exon6	c.G257A	p.S86N	SQAISAMCENSGSKDFFNNQGIPQL	SQAISAMCENSGNKDFFNNQGIPQL	1.0	7.0	-	-	4166_10:23270398-23270398 G>A_SQAISAMCENSGNKDFFNNQGIPQL
11:6977298-6977298 A>C	0.0	4166	COLON	-	-	-	-	ZNF215	ENST00000278319,p.S364R|ENST00000414517,p.S364R|uc001mey.3,p.S364R|uc010raw.3,p.S138R|uc010rax.2,p.S126R|NM_013250,p.S364R	protein_coding, processed_transcript	uc010rax.2	nonsynonymous SNV	exon5	c.A376C	p.S126R	HSEYEYGNDLSLSTDIRHQKSHTTM	HSEYEYGNDLSLRTDIRHQKSHTTM	3.0	3.0	-	-	4166_11:6977298-6977298 A>C_HSEYEYGNDLSLRTDIRHQKSHTTM
12:66704377-66704377 A>T	0.0	4166	COLON	-	-	-	-	HELB	ENST00000542394,p.T557S|NM_033647,p.T557S|ENST00000247815,p.T557S|uc001sti.3,p.T557S|ENST00000545134,p.T557S	retained_intron, protein_coding, nonsense_mediated_decay	uc001sti.3	nonsynonymous SNV	exon4	c.A1669T	p.T557S	GLLRQKTGLHAYTLCQVNYSFYSWT	GLLRQKTGLHAYSLCQVNYSFYSWT	4.0	5.0	-	-	4166_12:66704377-66704377 A>T_GLLRQKTGLHAYSLCQVNYSFYSWT
2:239037502-239037502 A>C	0.0	4166	COLON	-	-	-	-	ESPNL	ENST00000343063,p.K457T|uc002vxq.4,p.K457T|ENST00000409169,p.K413T|uc010fyw.3,p.K153T|ENST00000409506,p.K89T|NM_194312,p.K457T|uc031rsa.1,p.K89T	protein_coding, processed_transcript	uc031rsa.1	nonsynonymous SNV	exon3	c.A266C	p.K89T	PIPEWKRQVMVRKLQARLGAESSAE	PIPEWKRQVMVRTLQARLGAESSAE	3.0	6.0	-	-	4166_2:239037502-239037502 A>C_PIPEWKRQVMVRTLQARLGAESSAE
6:51513923-51513923 T>C	0.0	4166	COLON	-	-	-	-	PKHD1	uc003pah.1,p.E3757G|ENST00000371117,p.E3757G|NM_138694,p.E3757G	protein_coding	uc003pah.1	nonsynonymous SNV	exon62	c.A11270G	p.E3757G	ILVQPSDGEVGNELPVQPQLVFLDE	ILVQPSDGEVGNGLPVQPQLVFLDE	3.0	2.0	-	-	4166_6:51513923-51513923 T>C_ILVQPSDGEVGNGLPVQPQLVFLDE
4:88415334-88415334 T>A	0.0	4166	COLON	-	-	-	-	SPARCL1	NM_004684,p.K206N|NM_001128310,p.K206N|uc003hqs.4,p.K206N|NM_001291976,p.K81N|ENST00000418378,p.K206N|ENST00000282470,p.K206N|ENST00000503414,p.K81N|uc010ikm.3,p.K206N|NM_001291977,p.K81N|uc011cdc.2,p.K81N|uc011cdd.2,p.K81N	protein_coding	uc011cdd.2	nonsynonymous SNV	exon5	c.A243T	p.K81N	DPNISNGEEEEEKEPGEVGTHNDNQ	DPNISNGEEEEENEPGEVGTHNDNQ	10.0	9.0	-	-	4166_4:88415334-88415334 T>A_DPNISNGEEEEENEPGEVGTHNDNQ
14:33291262-33291262 G>A	0.0	4166	COLON	-	-	-	-	AKAP6	ENST00000280979,p.D1415N|NM_004274,p.D1415N|uc001wrq.3,p.D1415N	retained_intron, protein_coding, processed_transcript	uc001wrq.3	nonsynonymous SNV	exon13	c.G4243A	p.D1415N	GDAVNVLKQKFTDEGESIKLPNSSQ	GDAVNVLKQKFTNEGESIKLPNSSQ	5.0	9.0	-	-	4166_14:33291262-33291262 G>A_GDAVNVLKQKFTNEGESIKLPNSSQ
10:37425570-37425570 T>C	0.0	4166	COLON	-	-	-	-	ANKRD30A	uc021ppc.1,p.L208S|uc001iza.1,p.L208S|ENST00000374660,p.L208S|ENST00000602533,p.L208S|ENST00000361713,p.L208S|NM_052997,p.L208S	protein_coding, processed_transcript	uc021ppc.1	nonsynonymous SNV	exon6	c.T623C	p.L208S	HIHEQIMEYIRKLSKNHQNTNPEGT	HIHEQIMEYIRKSSKNHQNTNPEGT	1.0	7.0	-	-	4166_10:37425570-37425570 T>C_HIHEQIMEYIRKSSKNHQNTNPEGT
7:100675925-100675925 G>A	0.0	4166	COLON	-	-	-	-	MUC17	ENST00000379439,p.A410T|ENST00000306151,p.A410T|uc003uxp.1,p.A410T|NM_001040105,p.A410T	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G1228A	p.A410T	MPVSTILVASSEASTTSTIPVDSKT	MPVSTILVASSETSTTSTIPVDSKT	3.0	1.0	unscreened	-	4166_7:100675925-100675925 G>A_MPVSTILVASSETSTTSTIPVDSKT
2:179432476-179432476 C>T	0.0	4166	COLON	-	-	-	-	TTN	ENST00000591111,p.R24487H|ENST00000342992,p.R23560H|NM_001267550,p.R26128H|NM_133432,p.R17188H|NM_001256850,p.R24487H|NM_133378,p.R23560H|ENST00000460472,p.R17063H|uc021vsy.2,p.R23560H|NM_003319,p.R17063H|NM_133437,p.R17255H|uc021vta.2,p.R17188H|ENST00000359218,p.R17188H|ENST00000589042,p.R26128H|ENST00000342175,p.R17255H|uc021vsz.2,p.R17255H|uc031rqc.1,p.R26128H|uc031rqd.1,p.R24487H|uc021vtb.2,p.R17063H	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G73460A	p.R24487H	GGSMITGYIVEKRDLPDGRWMKASF	GGSMITGYIVEKHDLPDGRWMKASF	2.0	1.0	unscreened	-	4166_2:179432476-179432476 C>T_GGSMITGYIVEKHDLPDGRWMKASF
X:72432983-72432983 T>C	0.0	4166	COLON	-	-	-	-	NAP1L2	ENST00000373517,p.K449R|uc004ebi.3,p.K449R|NM_021963,p.K449R|ENST00000536638,p.K307R	protein_coding	uc004ebi.3	nonsynonymous SNV	exon1	c.A1346G	p.K449R	WMAAIEEVKACCKNLEALVEDIDR	WMAAIEEVKACCRNLEALVEDIDR	3.0	4.0	-	-	4166_X:72432983-72432983 T>C_WMAAIEEVKACCRNLEALVEDIDR
2:207620106-207620106 G>T	0.0	4166	COLON	-	-	-	-	MDH1B	ENST00000449792,p.S81R|NM_001039845,p.S179R|uc021vvm.1,p.S81R|ENST00000454776,p.S179R|ENST00000374412,p.S179R|uc002vbs.3,p.S179R|NM_001282940,p.S179R|uc010fui.3,p.S179R	retained_intron, protein_coding, nonsense_mediated_decay	uc021vvm.1	nonsynonymous SNV	exon4	c.C243A	p.S81R	LFDNKQAEEHLKSLVVETQDLASPV	LFDNKQAEEHLKRLVVETQDLASPV	4.0	8.0	-	-	4166_2:207620106-207620106 G>T_LFDNKQAEEHLKRLVVETQDLASPV
4:155219773-155219773 T>G	0.0	4166	COLON	-	-	-	-	DCHS2	uc003inw.2,p.N1443T|NM_017639,p.N1443T|ENST00000357232,p.N1443T	protein_coding, processed_transcript	uc003inw.2	nonsynonymous SNV	exon18	c.A4328C	p.N1443T	STTRALDREQISNFTLVILCSDLGD	STTRALDREQISTFTLVILCSDLGD	1.0	3.0	-	-	4166_4:155219773-155219773 T>G_STTRALDREQISTFTLVILCSDLGD
2:207527870-207527870 T>A	0.0	4166	COLON	-	-	-	-	DYTN	ENST00000452335,p.R464W|uc002vbr.1,p.R464W|NM_001093730,p.R464W	protein_coding, processed_transcript	uc002vbr.1	nonsynonymous SNV	exon11	c.A1390T	p.R464W	NPESPETTLHSTRAQSQTQKMPQKV	NPESPETTLHSTWAQSQTQKMPQKV	1.0	4.0	-	-	4166_2:207527870-207527870 T>A_NPESPETTLHSTWAQSQTQKMPQKV
22:47116876-47116876 A>T	1.0	4166	COLON	-	-	-	-	CERK	NM_022766,p.V60D|ENST00000216264,p.V60D|uc003bia.3,p.V60D|ENST00000443629,p.V60D	protein_coding, processed_transcript, nonsense_mediated_decay	uc003bia.3	nonsynonymous SNV	exon2	c.T179A	p.V60D	DACSVPVSEIIAVEETDVHGKHQGS	DACSVPVSEIIADEETDVHGKHQGS	9.0	6.0	-	-	4166_22:47116876-47116876 A>T_DACSVPVSEIIADEETDVHGKHQGS
10:87966366-87966366 G>A	0.0	4166	COLON	-	-	-	-	GRID1	uc001kdl.1,p.T92M|ENST00000327946,p.T92M|ENST00000464741,p.T92M|NM_017551,p.T92M	protein_coding, processed_transcript, nonsense_mediated_decay	uc001kdl.1	nonsynonymous SNV	exon3	c.C275T	p.T92M	CDLMTQGILALVTSTGCASANALQS	CDLMTQGILALVMSTGCASANALQS	4.0	8.0	-	-	4166_10:87966366-87966366 G>A_CDLMTQGILALVMSTGCASANALQS
2:179590252-179590252 T>G	0.0	4166	COLON	-	-	-	-	TTN	uc021vsy.2,p.E5649D|NM_133378,p.E5649D|NM_001267550,p.E6893D|uc002umz.1,p.E2310D|ENST00000589042,p.E6893D|ENST00000591111,p.E6576D|uc031rqc.1,p.E6893D|uc031rqd.1,p.E6576D|ENST00000342992,p.E5649D|NM_001256850,p.E6576D	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon69	c.A19728C	p.E6576D	QPIFVQWLKEKEEVIRESENIRITF	QPIFVQWLKEKEDVIRESENIRITF	2.0	2.0	-	-	4166_2:179590252-179590252 T>G_QPIFVQWLKEKEDVIRESENIRITF
19:53518476-53518476 C>A	0.0	4166	COLON	-	-	-	-	ERVV-1	uc002qap.3,p.A378E|NM_152473,p.A378E|ENST00000602168,p.A378E	protein_coding	uc002qap.3	nonsynonymous SNV	exon1	c.C1133A	p.A378E	SISKLKASIDSLANVVMNNRLALDY	SISKLKASIDSLENVVMNNRLALDY	1.0	4.0	-	-	4166_19:53518476-53518476 C>A_SISKLKASIDSLENVVMNNRLALDY
22:19175175-19175175 C>A	0.0	4166	COLON	-	-	-	1	CLTCL1	NM_007098,p.E1500D|uc021wle.1,p.E1500D|uc011agt.2,p.E291D|ENST00000427926,p.E1500D|ENST00000263200,p.E1500D|uc011agw.1,p.E1479D|ENST00000538828,p.E22D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wle.1	nonsynonymous SNV	exon29	c.G4500T	p.E1500D	DNFDNISLAQQLEKHQLMEFRCIAA	DNFDNISLAQQLDKHQLMEFRCIAA	5.0	8.0	-	-	4166_22:19175175-19175175 C>A_DNFDNISLAQQLDKHQLMEFRCIAA
12:50044645-50044645 T>C	0.0	4166	COLON	-	-	-	-	FMNL3	ENST00000352151,p.K554R|ENST00000293590,p.K605R|uc001ruw.1,p.K554R|NM_198900,p.K554R|uc001ruu.1,p.K455R|uc001rut.1,p.K171R|ENST00000335154,p.K605R|NM_175736,p.K605R|ENST00000550488,p.K605R|uc001ruv.1,p.K605R	retained_intron, protein_coding, processed_transcript	uc001ruw.1	nonsynonymous SNV	exon16	c.A1661G	p.K554R	DDEKILEDLDLDKFEELFKTKAQGP	DDEKILEDLDLDRFEELFKTKAQGP	7.0	1.0	-	-	4166_12:50044645-50044645 T>C_DDEKILEDLDLDRFEELFKTKAQGP
X:9862729-9862729 T>G	0.0	4166	COLON	-	-	-	-	SHROOM2	ENST00000380913,p.S261A|uc004csu.1,p.S261A|NM_001649,p.S261A	protein_coding, processed_transcript	uc004csu.1	nonsynonymous SNV	exon4	c.T781G	p.S261A	GRQAQAAGDPQGSEEKLSCFPPRVP	GRQAQAAGDPQGAEEKLSCFPPRVP	5.0	2.0	-	-	4166_X:9862729-9862729 T>G_GRQAQAAGDPQGAEEKLSCFPPRVP
11:6977401-6977401 A>T	0.0	4166	COLON	-	-	-	-	ZNF215	ENST00000414517,p.Q398L|uc001mey.3,p.Q398L|uc010raw.3,p.Q172L|NM_013250,p.Q398L|ENST00000278319,p.Q398L|uc010rax.2,p.Q160L	protein_coding, processed_transcript	uc010rax.2	nonsynonymous SNV	exon5	c.A479T	p.Q160L	KAFCRSSSLIRHQIIHTGEKPYKCS	KAFCRSSSLIRHLIIHTGEKPYKCS	3.0	5.0	-	-	4166_11:6977401-6977401 A>T_KAFCRSSSLIRHLIIHTGEKPYKCS
10:56138683-56138683 G>T	0.0	4166	COLON	-	-	-	-	PCDH15	uc010qib.1,p.N37K|uc021pqz.1,p.N37K|ENST00000373957,p.N37K|NM_001142773,p.N37K|uc001jjv.1,p.N37K|ENST00000395433,p.N37K|NM_001142768,p.N37K|uc010qia.1,p.N37K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon2	c.C111A	p.N37K	LGQYDDGTILVDNMLIKGTAGGPDP	LGQYDDGTILVDKMLIKGTAGGPDP	2.0	6.0	-	-	4166_10:56138683-56138683 G>T_LGQYDDGTILVDKMLIKGTAGGPDP
12:29614686-29614686 G>A	0.0	4166	COLON	-	-	-	-	OVCH1-AS1	uc031qgv.1,p.R123H	protein_coding, processed_transcript	uc031qgv.1	nonsynonymous SNV	exon2	c.G368A	p.R123H	PSGAWKGYDIEARDKLVISAMVSPV	PSGAWKGYDIEAHDKLVISAMVSPV	2.0	3.0	unscreened	-	4166_12:29614686-29614686 G>A_PSGAWKGYDIEAHDKLVISAMVSPV
17:3182226-3182226 A>T	0.0	4166	COLON	-	-	-	-	OR3A2	uc002fvg.3,p.S2T|NM_002551,p.S2T|ENST00000408891,p.S2T	protein_coding	uc002fvg.3	nonsynonymous SNV	exon1	c.T4A	p.S2T	MSLQKLMEPEAGTN	MTLQKLMEPEAGTN	1.0	9.0	-	-	4166_17:3182226-3182226 A>T_MTLQKLMEPEAGTN
21:41719808-41719808 C>G	0.0	4166	COLON	-	-	-	-	DSCAM	uc002yyq.1,p.L333F|NM_001271534,p.L333F|NM_001389,p.L333F|uc031rvr.1,p.L333F|ENST00000404019,p.L85F|ENST00000400454,p.L333F	protein_coding	uc031rvr.1	nonsynonymous SNV	exon6	c.G999C	p.L333F	RKVKSSVGSQVSLSCSVTGTEDQEL	RKVKSSVGSQVSFSCSVTGTEDQEL	1.0	6.0	-	-	4166_21:41719808-41719808 C>G_RKVKSSVGSQVSFSCSVTGTEDQEL
10:56138683-56138683 G>T	0.0	4166	COLON	-	-	-	-	PCDH15	ENST00000395430,p.N59K|ENST00000448885,p.N59K|ENST00000395445,p.N59K|uc021pqy.1,p.N59K|uc010qhy.1,p.N64K|NM_033056,p.N59K|ENST00000373965,p.N59K|ENST00000414778,p.N64K|ENST00000320301,p.N59K|NM_001142766,p.N59K|ENST00000395438,p.N59K|ENST00000395442,p.N59K|uc010qhq.2,p.N64K|ENST00000395440,p.N59K|uc010qhv.1,p.N59K|ENST00000414367,p.N59K|ENST00000395446,p.N59K|NM_001142764,p.N59K|ENST00000373955,p.N59K|NM_001142765,p.N59K|uc001jjw.3,p.N59K|uc010qhw.1,p.N59K|uc021pqw.1,p.N64K|uc010qhx.1,p.N59K|NM_001142763,p.N64K|ENST00000458638,p.N59K|uc010qht.2,p.N59K|ENST00000437009,p.N59K|ENST00000361849,p.N59K|uc001jju.1,p.N59K|uc010qhz.1,p.N59K|uc021pqv.1,p.N59K|ENST00000395432,p.N59K|NM_001142767,p.N59K|uc010qhr.2,p.N59K|uc021pqx.1,p.N59K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqy.1	nonsynonymous SNV	exon3	c.C177A	p.N59K	DEESRNGTILVDNMLIKGTAGGPDP	DEESRNGTILVDKMLIKGTAGGPDP	2.0	6.0	-	-	4166_10:56138683-56138683 G>T_DEESRNGTILVDKMLIKGTAGGPDP
4:185038141-185038141 G>T	0.0	4166	COLON	-	-	-	-	ENPP6	ENST00000296741,p.H241Q|NM_153343,p.H241Q|uc003iwc.3,p.H241Q|ENST00000512353,p.H153Q	retained_intron, protein_coding	uc003iwc.3	nonsynonymous SNV	exon5	c.C723A	p.H241Q	LQDRLNVIIFSDHGMTDIFWMDKVI	LQDRLNVIIFSDQGMTDIFWMDKVI	3.0	8.0	-	-	4166_4:185038141-185038141 G>T_LQDRLNVIIFSDQGMTDIFWMDKVI
X:54335591-54335591 C>G	0.0	4166	COLON	-	-	-	-	WNK3	NM_020922,p.V290L|uc004dtc.2,p.V290L|ENST00000375159,p.V290L|NM_001002838,p.V290L|ENST00000375169,p.V290L|ENST00000354646,p.V290L|uc004dtd.2,p.V290L	protein_coding	uc004dtd.2	nonsynonymous SNV	exon4	c.G868C	p.V290L	CDNIFITGPTGSVKIGDLGLATLMR	CDNIFITGPTGSLKIGDLGLATLMR	3.0	6.0	-	-	4166_X:54335591-54335591 C>G_CDNIFITGPTGSLKIGDLGLATLMR
22:51182555-51182555 C>T	0.0	4166	COLON	-	-	-	-	ACR	NM_001097,p.S211L|ENST00000216139,p.S211L|uc003bnh.4,p.S211L	retained_intron, protein_coding, processed_transcript	uc003bnh.4	nonsynonymous SNV	exon4	c.C632T	p.S211L	ARVDLIDLDLCNSTQWYNGRVQPTN	ARVDLIDLDLCNLTQWYNGRVQPTN	4.0	8.0	-	-	4166_22:51182555-51182555 C>T_ARVDLIDLDLCNLTQWYNGRVQPTN
3:52428677-52428677 G>A	0.0	4166	COLON	-	-	-	-	DNAH1	ENST00000420323,p.R3608Q|NM_015512,p.R3608Q|uc011bef.2,p.R3608Q|uc003ddv.3,p.R466Q|ENST00000490713,p.R508Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bef.2	nonsynonymous SNV	exon67	c.G10823A	p.R3608Q	EFRVIFDSLEPHREPLPGIWDQYLD	EFRVIFDSLEPHQEPLPGIWDQYLD	5.0	5.0	-	-	4166_3:52428677-52428677 G>A_EFRVIFDSLEPHQEPLPGIWDQYLD
2:226447728-226447728 G>A	0.0	4166	COLON	-	-	-	-	NYAP2	uc002voe.2,p.R532Q|uc002vof.1,p.R302Q|ENST00000272907,p.R532Q|NM_020864,p.R532Q	protein_coding	uc002vof.1	nonsynonymous SNV	exon1	c.G905A	p.R302Q	SGRSLLRKSSSGRRSKEPAEKSTEE	SGRSLLRKSSSGQRSKEPAEKSTEE	1.0	8.0	-	-	4166_2:226447728-226447728 G>A_SGRSLLRKSSSGQRSKEPAEKSTEE
2:186654867-186654867 G>A	0.0	4166	COLON	-	-	-	-	FSIP2	ENST00000424728,p.D1002N|NM_173651,p.D1091N|ENST00000343098,p.D1091N|uc002upl.3,p.D1091N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.G3271A	p.D1091N	PPINVPGMVLYSDDENEEIDNIVKN	PPINVPGMVLYSNDENEEIDNIVKN	1.0	5.0	-	-	4166_2:186654867-186654867 G>A_PPINVPGMVLYSNDENEEIDNIVKN
X:34149979-34149979 T>G	0.0	4166	COLON	-	-	-	-	FAM47A	NM_203408,p.E139D|ENST00000346193,p.E139D|uc004ddg.3,p.E139D	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.A417C	p.E139D	AKHPLAMYPNLGEDMPPDLLLQVLK	AKHPLAMYPNLGDDMPPDLLLQVLK	1.0	5.0	-	-	4166_X:34149979-34149979 T>G_AKHPLAMYPNLGDDMPPDLLLQVLK
9:78790197-78790197 C>G	0.0	4166	COLON	-	-	ID=COSM4164017;OCCURENCE=1(thyroid)	-	PCSK5	ENST00000376767,p.I684M|uc004ajy.2,p.I684M	protein_coding	uc004ajy.2	nonsynonymous SNV	exon14	c.C2052G	p.I684M	NGMEWNGMEWNRIESNRIE	NGMEWNGMEWNRMESNRIE	5.0	3.0	unscreened	-	4166_9:78790197-78790197 C>G_NGMEWNGMEWNRMESNRIE
19:44222976-44222976 T>A	0.0	4166	COLON	-	-	-	-	IRGC	uc021uvh.1,p.V89D|ENST00000244314,p.V89D|ENST00000596627,p.V126D|uc002oxh.3,p.V89D|NM_019612,p.V89D	protein_coding	uc021uvh.1	nonsynonymous SNV	exon1	c.T266A	p.V89D	LEAEDPGAALTGVMETTMQPSPYPH	LEAEDPGAALTGDMETTMQPSPYPH	1.0	4.0	-	-	4166_19:44222976-44222976 T>A_LEAEDPGAALTGDMETTMQPSPYPH
11:100179100-100179100 C>A	0.0	4166	COLON	-	-	-	-	CNTN5	NM_175566,p.A803D|ENST00000528682,p.A877D|ENST00000524871,p.A877D|uc001pga.3,p.A877D|NM_014361,p.A877D|ENST00000418526,p.A803D|uc021qpb.1,p.A877D|NM_001243270,p.A877D|ENST00000527185,p.A877D|uc001pfz.3,p.A877D|ENST00000279463,p.A877D|uc021qpc.1,p.A803D|NM_001243271,p.A877D|uc010ruk.2,p.A148D	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon18	c.C2408A	p.A803D	IVVICSAEGEPSAAPTDVKATSVSV	IVVICSAEGEPSDAPTDVKATSVSV	1.0	5.0	-	-	4166_11:100179100-100179100 C>A_IVVICSAEGEPSDAPTDVKATSVSV
19:50917114-50917114 C>T	1.0	4171	RECTAL	-	-	-	1	POLD1	uc002psc.5,p.P789L|NM_001256849,p.P789L|ENST00000599857,p.P789L|ENST00000440232,p.P789L|ENST00000600859,p.P789L|uc010eny.4,p.P815L|uc002psb.5,p.P789L|ENST00000595904,p.P815L|NM_002691,p.P789L	retained_intron, protein_coding, nonsense_mediated_decay	uc010eny.4	nonsynonymous SNV	exon18	c.C2444T	p.P815L	EAADWVSGHFPSPIRLEFEKVYFPY	EAADWVSGHFPSLIRLEFEKVYFPY	9.0	10.0	-	-	4171_19:50917114-50917114 C>T_EAADWVSGHFPSLIRLEFEKVYFPY
15:75693249-75693249 T>A	1.0	4171	RECTAL	-	-	-	-	SIN3A	uc010uml.2,p.N520I|ENST00000360439,p.N520I|uc002bai.3,p.N520I|ENST00000394947,p.N520I|uc002baj.3,p.N520I|NM_001145358,p.N520I|NM_015477,p.N520I|ENST00000394949,p.N520I|NM_001145357,p.N520I	retained_intron, protein_coding	uc010uml.2	nonsynonymous SNV	exon11	c.A1559T	p.N520I	LGKFPELFNWFKNFLGYKESVHLET	LGKFPELFNWFKIFLGYKESVHLET	8.0	8.0	CD8	-	4171_15:75693249-75693249 T>A_LGKFPELFNWFKIFLGYKESVHLET
3:101284688-101284688 C>G	1.0	4171	RECTAL	-	-	-	-	TRMT10C	uc003duz.4,p.Q355E|ENST00000309922,p.Q355E|NM_017819,p.Q355E|uc021xbw.1,p.Q355E	protein_coding	uc021xbw.1	nonsynonymous SNV	exon1	c.C1063G	p.Q355E	QWEIGNKNLTLDQMIRILLCLKNNG	QWEIGNKNLTLDEMIRILLCLKNNG	9.0	1.0	unscreened	-	4171_3:101284688-101284688 C>G_QWEIGNKNLTLDEMIRILLCLKNNG
15:22998484-22998484 T>C	1.0	4171	RECTAL	-	-	-	-	CYFIP1	NM_001287810,p.L1059P|NM_001033028,p.L628P|uc001yuv.3,p.L253P|uc001yuu.3,p.L628P|ENST00000435939,p.L628P|ENST00000561263,p.L33P|ENST00000560848,p.L1059P|ENST00000313077,p.L1059P|NM_014608,p.L1059P|uc001yus.3,p.L1059P|uc001yut.3,p.L1059P	retained_intron, protein_coding, nonsense_mediated_decay	uc001yuv.3	nonsynonymous SNV	exon7	c.T758C	p.L253P	MKRLESKYAPLHLVPLIERLGTPQQ	MKRLESKYAPLHPVPLIERLGTPQQ	10.0	3.0	-	-	4171_15:22998484-22998484 T>C_MKRLESKYAPLHPVPLIERLGTPQQ
15:67073563-67073563 G>T	1.0	4171	RECTAL	-	-	-	-	SMAD6	uc002aqg.3,p.S133I|NM_001142861,p.S133I|ENST00000338426,p.S133I|ENST00000288840,p.S394I|NM_005585,p.S394I|uc002aqf.3,p.S394I	protein_coding, nonsense_mediated_decay	uc002aqg.3	nonsynonymous SNV	exon4	c.G398T	p.S133I	RTRSKIGFGILLSKEPDGVWAYNRG	RTRSKIGFGILLIKEPDGVWAYNRG	8.0	3.0	-	-	4171_15:67073563-67073563 G>T_RTRSKIGFGILLIKEPDGVWAYNRG
9:93606256-93606256 G>A	1.0	4171	RECTAL	-	-	ID=COSM1625224,COSM1625223;OCCURENCE=3(liver)	1	SYK	NM_001174168,p.E26K|ENST00000375746,p.E26K|NM_001135052,p.E26K|ENST00000375754,p.E26K|uc004ara.3,p.E26K|NM_001174167,p.E26K|NM_003177,p.E26K|uc004aqz.3,p.E26K|uc004arc.3,p.E26K|ENST00000375747,p.E26K|uc004arb.3,p.E26K|ENST00000375751,p.E26K	protein_coding, processed_transcript	uc004arc.3	nonsynonymous SNV	exon2	c.G76A	p.E26K	PFFFGNITREEAEDYLVQGGMSDGL	PFFFGNITREEAKDYLVQGGMSDGL	9.0	1.0	-	-	4171_9:93606256-93606256 G>A_PFFFGNITREEAKDYLVQGGMSDGL
3:178916890-178916890 C>T	1.0	4171	RECTAL	-	-	ID=COSM1041455,COSM27493;OCCURENCE=2(urinary_tract),4(large_intestine),17(endometrium)	1	PIK3CA	uc003fjk.3,p.R93W|ENST00000468036,p.R93W|NM_006218,p.R93W|ENST00000263967,p.R93W	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon2	c.C277T	p.R93W	EFFDETRRLCDLRLFQPFLKVIEPV	EFFDETRRLCDLWLFQPFLKVIEPV	5.0	10.0	-	-	4171_3:178916890-178916890 C>T_EFFDETRRLCDLWLFQPFLKVIEPV
19:55175756-55175756 C>T	0.0	4171	RECTAL	-	-	-	-	LILRB4	uc002qgq.3,p.R159W|NM_001278426,p.R159W|ENST00000434286,p.R159W|ENST00000430952,p.R159W|ENST00000270452,p.R159W|NM_001278428,p.R159W|uc010ert.3,p.R200W|uc010ers.1,p.R72W|NM_001278429,p.R188W|NM_001278427,p.R159W|ENST00000391736,p.R159W|ENST00000391734,p.R159W|ENST00000391733,p.R159W|uc010eru.3,p.R188W|NM_001278430,p.R159W|uc002qgp.3,p.R159W	retained_intron, protein_coding, processed_transcript	uc010eru.3	nonsynonymous SNV	exon3	c.C562T	p.R188W	RSPMDTFLLIKERAAHPLLHLRSEH	RSPMDTFLLIKEWAAHPLLHLRSEH	7.0	6.0	-	-	4171_19:55175756-55175756 C>T_RSPMDTFLLIKEWAAHPLLHLRSEH
12:69127260-69127260 A>C	1.0	4171	RECTAL	-	-	-	-	NUP107	uc001suf.3,p.E710D|ENST00000539906,p.E681D|ENST00000229179,p.E710D|NM_020401,p.E710D|uc001sug.3,p.E469D|ENST00000378905,p.E471D|uc010stj.2,p.E681D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010stj.2	nonsynonymous SNV	exon24	c.A2043C	p.E681D	KFLASKKHEAAKEVFVKIPQDSIAE	KFLASKKHEAAKDVFVKIPQDSIAE	8.0	4.0	-	-	4171_12:69127260-69127260 A>C_KFLASKKHEAAKDVFVKIPQDSIAE
3:178936094-178936094 C>G	1.0	4171	RECTAL	-	-	ID=COSM6147,COSM1566572;OCCURENCE=4(breast),7(large_intestine),2(endometrium),1(cervix)	1	PIK3CA	NM_006218,p.Q546E|ENST00000263967,p.Q546E|uc003fjk.3,p.Q546E	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon10	c.C1636G	p.Q546E	ISTRDPLSEITEQEKDFLWSHRHYC	ISTRDPLSEITEEEKDFLWSHRHYC	5.0	9.0	-	-	4171_3:178936094-178936094 C>G_ISTRDPLSEITEEEKDFLWSHRHYC
11:5799061-5799061 G>T	0.0	4171	RECTAL	-	-	ID=COSM928803;OCCURENCE=1(endometrium)	-	OR52N5	uc010qzn.2,p.F268L|NM_001001922,p.F268L|ENST00000317093,p.F268L	protein_coding	uc010qzn.2	nonsynonymous SNV	exon1	c.C804A	p.F268L	AIIITYVPAFFTFFAHRFGGHTIPP	AIIITYVPAFFTLFAHRFGGHTIPP	1.0	4.0	-	-	4171_11:5799061-5799061 G>T_AIIITYVPAFFTLFAHRFGGHTIPP
8:144776084-144776084 G>A	1.0	4171	RECTAL	-	-	-	-	ZNF707	uc003yze.4,p.R167Q|uc003yzh.4,p.R94Q|uc010mfh.3,p.R167Q|ENST00000454097,p.R167Q|NM_001288805,p.R167Q|NM_001100599,p.R167Q|NM_001100598,p.R167Q|NM_001288809,p.R131Q|uc003yzf.4,p.R167Q|ENST00000532205,p.R167Q|NM_001288808,p.R131Q|ENST00000418203,p.R167Q|ENST00000526315,p.R131Q|NM_001288807,p.R94Q|ENST00000532158,p.R167Q|ENST00000358656,p.R167Q|NM_001288806,p.R167Q|NM_173831,p.R167Q|uc010mfi.3,p.R167Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mfi.3	nonsynonymous SNV	exon5	c.G500A	p.R167Q	QRCGRRPGRRERRKQRAVELSFICG	QRCGRRPGRRERQKQRAVELSFICG	6.0	7.0	-	-	4171_8:144776084-144776084 G>A_QRCGRRPGRRERQKQRAVELSFICG
1:226076535-226076535 A>T	1.0	4171	RECTAL	-	-	-	-	LEFTY1	NM_020997,p.F78I|uc001hpo.3,p.F78I|uc009xej.2,p.F78I|ENST00000272134,p.F78I	protein_coding, processed_transcript	uc009xej.2	nonsynonymous SNV	exon1	c.T232A	p.F78I	QRSHGDRSRGKRFSQSFREVAGRFL	QRSHGDRSRGKRISQSFREVAGRFL	9.0	1.0	-	-	4171_1:226076535-226076535 A>T_QRSHGDRSRGKRISQSFREVAGRFL
12:25398284-25398284 C>T	1.0	4171	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	NM_004985,p.G12D|uc001rgp.1,p.G12D|uc001rgq.1,p.G12D|NM_033360,p.G12D|ENST00000556131,p.G12D|ENST00000311936,p.G12D|ENST00000557334,p.G12D|ENST00000256078,p.G12D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35A	p.G12D	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGADGVGKSALTIQLI	7.0	10.0	-	-	4171_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI
14:93677052-93677052 C>-	0.0	4171	RECTAL	-	-	-	-	UBR7	ENST00000554232,p.P115fs	protein_coding, nonsense_mediated_decay	ENST00000554232	frameshift deletion	exon3	c.343delC	p.P115fs	NSKFKNLECKLLPIPDEMIQCVVCE	NSKFKNLECKLLLFQMR	6.0	8.0	-	-	4171_14:93677052-93677052 C>-_NSKFKNLECKLLLFQMR
7:121679604-121679604 G>C	0.0	4171	RECTAL	-	-	-	-	PTPRZ1	uc011knt.2,p.V1007L|ENST00000393386,p.V1867L|uc003vjz.3,p.V1000L|uc003vjy.3,p.V1867L|ENST00000449182,p.V1000L|NM_002851,p.V1867L|NM_001206838,p.V1007L|NM_001206839,p.V1000L	retained_intron, protein_coding, processed_transcript	uc011knt.2	nonsynonymous SNV	exon20	c.G3019C	p.V1007L	TQKSVQVLAYYTVRNFTLRNTKIKK	TQKSVQVLAYYTLRNFTLRNTKIKK	1.0	2.0	unscreened	-	4171_7:121679604-121679604 G>C_TQKSVQVLAYYTLRNFTLRNTKIKK
12:49415849-49415849 G>A	0.0	4171	RECTAL	-	-	-	1	KMT2D	NM_003482,p.R5500W|ENST00000301067,p.R5500W|uc001rta.4,p.R5500W|ENST00000526209,p.R181W	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon53	c.C16498T	p.R5500W	FDKEDKIIIISSRRIPKGEELTYDY	FDKEDKIIIISSWRIPKGEELTYDY	8.0	4.0	-	-	4171_12:49415849-49415849 G>A_FDKEDKIIIISSWRIPKGEELTYDY
3:47036006-47036006 C>T	0.0	4171	RECTAL	-	-	-	-	NBEAL2	uc003cqq.1,p.P386L|ENST00000292309,p.P420L|uc003cqp.3,p.P420L|NM_015175,p.P420L|ENST00000450053,p.P420L	retained_intron, protein_coding, nonsense_mediated_decay	uc003cqq.1	nonsynonymous SNV	exon11	c.C1157T	p.P386L	YPHLQEVLQSHGPPTHRLLQELLNM	YPHLQEVLQSHGLPTHRLLQELLNM	8.0	5.0	-	-	4171_3:47036006-47036006 C>T_YPHLQEVLQSHGLPTHRLLQELLNM
X:15851087-15851087 T>G	0.0	4171	RECTAL	-	-	-	-	AP1S2	ENST00000421527,p.K199T|ENST00000380291,p.K157T|uc011mit.3,p.K199T	protein_coding, processed_transcript	uc011mit.3	nonsynonymous SNV	exon5	c.A596C	p.K199T	ETMYHSKSFIGFKKAY	ETMYHSKSFIGFTKAY	7.0	2.0	unscreened	-	4171_X:15851087-15851087 T>G_ETMYHSKSFIGFTKAY
15:51233871-51233871 G>A	0.0	4171	RECTAL	-	-	-	-	AP4E1	uc021skz.1,p.A284T|uc001zyx.2,p.A359T|ENST00000261842,p.A359T|NM_001252127,p.A284T|NM_007347,p.A359T|ENST00000560508,p.A284T	protein_coding, processed_transcript, nonsense_mediated_decay	uc021skz.1	nonsynonymous SNV	exon10	c.G850A	p.A284T	SPKINLKYLGLKALTYVIQQDPTLA	SPKINLKYLGLKTLTYVIQQDPTLA	5.0	7.0	-	-	4171_15:51233871-51233871 G>A_SPKINLKYLGLKTLTYVIQQDPTLA
17:7577538-7577538 C>T	1.0	4171	RECTAL	-	-	ID=COSM99021,COSM99020,COSM10662,COSM99602,COSM3356964,COSM1640830;OCCURENCE=37(urinary_tract),1(adrenal_gland),2(kidney),17(pancreas),8(liver),5(prostate),154(large_intestine),4(biliary_tract),72(breast),13(skin),7(small_intestine),12(endometrium),1(pituitary),32(ovary),3(cervix),58(haematopoietic_and_lymphoid_tissue),1(pleura),5(thyroid),1(peritoneum),18(lung),37(upper_aerodigestive_tract),2(NS),4(bone),3(vulva),37(oesophagus),45(central_nervous_system),37(stomach)	1	TP53	uc002gig.1,p.R248Q|uc002gin.3,p.R155Q|NM_001276696,p.R209Q|NM_001126118,p.R209Q|NM_001126114,p.R248Q|ENST00000445888,p.R248Q|uc002gio.3,p.R116Q|uc010cnf.2,p.R89Q|NM_000546,p.R248Q|uc031qyq.1,p.R209Q|ENST00000359597,p.R248Q|NM_001276695,p.R209Q|ENST00000455263,p.R248Q|uc002gih.3,p.R248Q|NM_001126116,p.R116Q|NM_001276760,p.R209Q|NM_001276761,p.R209Q|NM_001276697,p.R89Q|uc002gii.2,p.R89Q|uc002gij.3,p.R209Q|NM_001126112,p.R248Q|ENST00000420246,p.R248Q|NM_001126113,p.R248Q|NM_001126115,p.R116Q|NM_001276698,p.R89Q|ENST00000413465,p.R248Q|ENST00000509690,p.R116Q|NM_001126117,p.R116Q|ENST00000269305,p.R248Q|uc010cng.2,p.R89Q|NM_001276699,p.R89Q	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon6	c.G626A	p.R209Q	YMCNSSCMGGMNRRPILTIITLEDS	YMCNSSCMGGMNQRPILTIITLEDS	10.0	10.0	-	-	4171_17:7577538-7577538 C>T_YMCNSSCMGGMNQRPILTIITLEDS
6:138754176-138754176 G>A	1.0	4171	RECTAL	-	-	-	-	NHSL1	NM_001144060,p.R436W|ENST00000427025,p.R440W|NM_020464,p.R440W|uc011edp.2,p.R436W|ENST00000343505,p.R436W|uc003qhx.3,p.R440W	retained_intron, protein_coding, processed_transcript	uc011edp.2	nonsynonymous SNV	exon6	c.C1306T	p.R436W	VIAIPTAQSAGQRESKSSGSSHARI	VIAIPTAQSAGQWESKSSGSSHARI	8.0	8.0	-	-	4171_6:138754176-138754176 G>A_VIAIPTAQSAGQWESKSSGSSHARI
2:48066074-48066074 A>C	0.0	4171	RECTAL	-	-	-	1	FBXO11	ENST00000424163,p.L87V|ENST00000403359,p.L171V|ENST00000316377,p.L87V|uc010fbl.3,p.L87V|NM_001190274,p.L171V|ENST00000378314,p.L53V|NM_025133,p.L87V|ENST00000402508,p.L87V|uc002rwg.2,p.L171V|uc002rwe.3,p.L171V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fbl.3	nonsynonymous SNV	exon4	c.T259G	p.L87V	LPDEVVLKIFSYLLEQDLCRAACVC	LPDEVVLKIFSYVLEQDLCRAACVC	8.0	5.0	-	-	4171_2:48066074-48066074 A>C_LPDEVVLKIFSYVLEQDLCRAACVC
8:73939225-73939225 A>T	1.0	4171	RECTAL	-	-	-	-	TERF1	uc003xzd.2,p.Q275H|uc003xze.2,p.Q275H|NM_017489,p.Q275H|ENST00000276603,p.Q275H|ENST00000517390,p.Q171H|NM_003218,p.Q275H|ENST00000276602,p.Q275H	retained_intron, protein_coding, processed_transcript	uc003xze.2	nonsynonymous SNV	exon6	c.A825T	p.Q275H	VVESKRTRTITSQDKPSGNDVEMET	VVESKRTRTITSHDKPSGNDVEMET	8.0	3.0	-	-	4171_8:73939225-73939225 A>T_VVESKRTRTITSHDKPSGNDVEMET
10:26802584-26802584 C>A	0.0	4171	RECTAL	-	-	-	-	APBB1IP	uc001iss.3,p.P270T|ENST00000376236,p.P270T|uc009xks.1,p.P270T|NM_019043,p.P270T	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xks.1	nonsynonymous SNV	exon8	c.C808A	p.P270T	LEKEEKYAVFKNPQNFYLDNRGKKE	LEKEEKYAVFKNTQNFYLDNRGKKE	5.0	8.0	-	-	4171_10:26802584-26802584 C>A_LEKEEKYAVFKNTQNFYLDNRGKKE
20:39831399-39831399 G>A	1.0	4171	RECTAL	-	-	-	-	ZHX3	ENST00000540170,p.R720C|uc002xjv.1,p.R720C|ENST00000432768,p.R720C|uc002xju.1,p.R720C|uc002xjt.1,p.R720C|ENST00000559234,p.R720C|NM_015035,p.R720C|uc010ggg.1,p.R720C|ENST00000309060,p.R720C|ENST00000544979,p.R720C|uc002xjw.1,p.R720C|ENST00000560361,p.R720C|uc002xjr.1,p.R720C|uc002xjs.1,p.R720C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ggg.1	nonsynonymous SNV	exon1	c.C2158T	p.R720C	SLEMPSSHILAERKVSPIKINLKNL	SLEMPSSHILAECKVSPIKINLKNL	7.0	10.0	-	-	4171_20:39831399-39831399 G>A_SLEMPSSHILAECKVSPIKINLKNL
7:87022275-87022275 G>C	1.0	4171	RECTAL	-	-	-	-	CROT	uc003uit.3,p.G537A|ENST00000419147,p.G565A|ENST00000331536,p.G537A|NM_021151,p.G537A|uc003uiu.3,p.G565A|NM_001143935,p.G565A|ENST00000442291,p.G537A	retained_intron, protein_coding	uc003uiu.3	nonsynonymous SNV	exon18	c.G1694C	p.G565A	FTDPLFSKSGGGGNFVLSTSLVGYL	FTDPLFSKSGGGANFVLSTSLVGYL	6.0	8.0	-	-	4171_7:87022275-87022275 G>C_FTDPLFSKSGGGANFVLSTSLVGYL
19:17025585-17025585 C>T	0.0	4171	RECTAL	0.0005	-	ID=COSM115714;OCCURENCE=1(ovary)	-	CPAMD8	NM_015692,p.R1270H|uc002nfb.3,p.R1270H|ENST00000443236,p.R1270H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nfb.3	nonsynonymous SNV	exon28	c.G3809A	p.R1270H	LTAFVLKSFAQARSFIFVDPRELAA	LTAFVLKSFAQAHSFIFVDPRELAA	5.0	8.0	-	-	4171_19:17025585-17025585 C>T_LTAFVLKSFAQAHSFIFVDPRELAA
11:108122693-108122693 G>T	0.0	4171	RECTAL	-	-	-	1	ATM	ENST00000278616,p.W579C|ENST00000452508,p.W579C|uc001pkb.1,p.W579C|uc009yxr.1,p.W579C|NM_000051,p.W579C|ENST00000527805,p.W579C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yxr.1	nonsynonymous SNV	exon12	c.G1737T	p.W579C	NRSFSLKESIMKWLLFYQLEGDLEN	NRSFSLKESIMKCLLFYQLEGDLEN	6.0	2.0	-	-	4171_11:108122693-108122693 G>T_NRSFSLKESIMKCLLFYQLEGDLEN
3:137983039-137983039 G>C	0.0	4171	RECTAL	-	-	-	-	ARMC8	NM_015396,p.W414C|uc011bmh.2,p.W355C|ENST00000491704,p.W386C|NM_001267042,p.W361C|ENST00000481646,p.W414C|ENST00000469044,p.W428C|ENST00000485396,p.W355C|uc003esc.2,p.W186C|uc003esb.2,p.W386C|NM_001267041,p.W397C|ENST00000461822,p.W361C|ENST00000393058,p.W418C|ENST00000463485,p.W322C|ENST00000538260,p.W397C|uc003esa.2,p.W414C|uc011bmg.2,p.W361C|uc011bmf.2,p.W397C|NM_001282342,p.W355C	retained_intron, protein_coding, nonsense_mediated_decay	uc011bmh.2	nonsynonymous SNV	exon12	c.G1065C	p.W355C	QQLRTSFQDHAVWKPLMKVLQNAPD	QQLRTSFQDHAVCKPLMKVLQNAPD	7.0	4.0	-	-	4171_3:137983039-137983039 G>C_QQLRTSFQDHAVCKPLMKVLQNAPD
2:219254614-219254614 C>T	1.0	4171	RECTAL	-	-	-	-	SLC11A1	uc010fvp.1,p.R273C|uc002vhv.3,p.R273C|uc010fvr.3,p.R68C|NM_000578,p.R273C|ENST00000539932,p.R155C|uc002vhu.1,p.R68C|uc010zkc.1,p.R206C|uc010fvq.1,p.R206C|ENST00000233202,p.R273C|uc002vhw.3,p.R155C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zkc.1	nonsynonymous SNV	exon9	c.C616T	p.R206C	SALVKSREIDRARRADIREANMYFL	SALVKSREIDRACRADIREANMYFL	7.0	2.0	-	-	4171_2:219254614-219254614 C>T_SALVKSREIDRACRADIREANMYFL
6:29054096-29054096 G>T	0.0	4171	RECTAL	-	-	-	-	OR2B3	uc003nlx.3,p.F310L|ENST00000377173,p.F310L|NM_001005226,p.F310L	protein_coding	uc003nlx.3	nonsynonymous SNV	exon1	c.C930A	p.F310L	KEAFKRLMPRIFFCKK	KEAFKRLMPRIFLCKK	1.0	6.0	-	-	4171_6:29054096-29054096 G>T_KEAFKRLMPRIFLCKK
X:43590527-43590527 C>T	0.0	4171	RECTAL	-	-	-	-	MAOA	ENST00000542639,p.R96W|ENST00000338702,p.R229W|uc004dfy.4,p.R229W|uc011mkw.3,p.R96W|NM_000240,p.R229W|NM_001270458,p.R96W	protein_coding, processed_transcript	uc011mkw.3	nonsynonymous SNV	exon8	c.C286T	p.R96W	RKFVGGSGQVSERIMDLLGDQVKLN	RKFVGGSGQVSEWIMDLLGDQVKLN	9.0	6.0	-	-	4171_X:43590527-43590527 C>T_RKFVGGSGQVSEWIMDLLGDQVKLN
19:1625590-1625590 C>A	1.0	4171	RECTAL	-	-	-	1	TCF3	ENST00000262965,p.A162S|ENST00000587235,p.A191S|uc002lts.1,p.A78S|uc002ltr.3,p.A162S|NM_001136139,p.A162S|NM_003200,p.A162S|ENST00000344749,p.A162S|ENST00000395423,p.A111S|uc002ltt.4,p.A162S|ENST00000588136,p.A162S|uc002ltq.3,p.A111S|ENST00000453954,p.A78S	retained_intron, protein_coding, nonsense_mediated_decay	uc002ltt.4	nonsynonymous SNV	exon6	c.G484T	p.A162S	YPSYSGSSRRRAADGSLDTQPKKVR	YPSYSGSSRRRASDGSLDTQPKKVR	10.0	1.0	-	-	4171_19:1625590-1625590 C>A_YPSYSGSSRRRASDGSLDTQPKKVR
9:2838496-2838496 T>A	1.0	4171	RECTAL	-	-	-	-	KIAA0020	ENST00000397885,p.K4N|uc003zhp.1,p.K4N|uc003zhq.1,p.K4N|NM_014878,p.K4N	protein_coding, processed_transcript	uc003zhq.1	nonsynonymous SNV	exon2	c.A12T	p.K4N	MEVKGKKQFTGKSTKT	MEVNGKKQFTGKSTKT	10.0	2.0	-	-	4171_9:2838496-2838496 T>A_MEVNGKKQFTGKSTKT
16:27508977-27508977 T>A	1.0	4171	RECTAL	-	-	-	-	GTF3C1	NM_001520,p.R777S|NM_001286242,p.R777S|ENST00000356183,p.R777S|uc002dou.3,p.R777S|ENST00000561623,p.R777S|uc002dov.2,p.R777S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dov.2	nonsynonymous SNV	exon14	c.A2331T	p.R777S	KKSDNKMGITPLRNYHPIVVPGLGR	KKSDNKMGITPLSNYHPIVVPGLGR	9.0	5.0	-	-	4171_16:27508977-27508977 T>A_KKSDNKMGITPLSNYHPIVVPGLGR
10:70737427-70737427 T>G	1.0	4171	RECTAL	-	-	-	-	DDX21	ENST00000354185,p.L629V|uc001jov.2,p.L629V|NM_004728,p.L629V|NM_001256910,p.L561V|uc001jow.2,p.L561V	protein_coding	uc001jow.2	nonsynonymous SNV	exon12	c.T1681G	p.L561V	HISGATSVDQRSLINSNVGFVTMIL	HISGATSVDQRSVINSNVGFVTMIL	10.0	4.0	-	-	4171_10:70737427-70737427 T>G_HISGATSVDQRSVINSNVGFVTMIL
11:58126236-58126236 C>G	0.0	4171	RECTAL	-	-	-	-	OR5B17	NM_001005489,p.A103P|ENST00000357377,p.A103P|uc010rke.2,p.A103P	protein_coding	uc010rke.2	nonsynonymous SNV	exon1	c.G307C	p.A103P	SYSACAAQMFFCAVFATVENYLLSS	SYSACAAQMFFCPVFATVENYLLSS	1.0	6.0	-	-	4171_11:58126236-58126236 C>G_SYSACAAQMFFCPVFATVENYLLSS
20:62560765-62560765 G>A	1.0	4171	RECTAL	-	-	ID=COSM1204215;OCCURENCE=1(large_intestine)	-	DNAJC5	ENST00000360864,p.A70T|ENST00000369911,p.A70T|ENST00000470551,p.A70T|NM_025219,p.A70T|uc002yhf.3,p.A70T	protein_coding, nonsense_mediated_decay	uc002yhf.3	nonsynonymous SNV	exon3	c.G208A	p.A70T	KEINNAHAILTDATKRNIYDKYGSL	KEINNAHAILTDTTKRNIYDKYGSL	8.0	2.0	unscreened	-	4171_20:62560765-62560765 G>A_KEINNAHAILTDTTKRNIYDKYGSL
1:212965287-212965287 G>C	0.0	4171	RECTAL	-	-	-	-	TATDN3	ENST00000366974,p.L8F|uc010ptk.1,p.L8F|uc001hjp.2,p.L8F|ENST00000530441,p.L8F|ENST00000526641,p.L8F|NM_001146170,p.L8F|ENST00000366973,p.L8F|uc001hjo.2,p.L8F|NM_001146169,p.L8F|NM_001042552,p.L8F|ENST00000533650,p.L8F|ENST00000531963,p.L8F|uc010ptl.1,p.L8F|ENST00000526997,p.L8F|uc010ptj.1,p.L8F|NM_001042553,p.L8F|ENST00000532324,p.L8F|NM_001146171,p.L8F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ptl.1	nonsynonymous SNV	exon1	c.G24C	p.L8F	MRAAGVGLVDCHCHLSAPDF	MRAAGVGFVDCHCHLSAPDF	7.0	9.0	-	-	4171_1:212965287-212965287 G>C_MRAAGVGFVDCHCHLSAPDF
2:143913217-143913217 C>T	0.0	4171	RECTAL	-	-	-	-	ARHGAP15	uc002tvm.4,p.T53I|uc010zbl.1,p.T53I|NM_018460,p.T53I|ENST00000409869,p.T53I|ENST00000295095,p.T53I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zbl.1	nonsynonymous SNV	exon2	c.C158T	p.T53I	SKSMILTDVGKVTEPISRHRRNHSQ	SKSMILTDVGKVIEPISRHRRNHSQ	6.0	8.0	-	-	4171_2:143913217-143913217 C>T_SKSMILTDVGKVIEPISRHRRNHSQ
7:12433261-12433261 T>A	0.0	4171	RECTAL	-	-	-	-	VWDE	ENST00000452576,p.I68F|NM_001135924,p.I68F|ENST00000521169,p.I68F|ENST00000275358,p.I68F|uc003ssj.2,p.I68F|ENST00000326715,p.I68F	retained_intron, protein_coding, nonsense_mediated_decay	uc003ssj.2	nonsynonymous SNV	exon2	c.A202T	p.I68F	DHSLSPGWYRFLILDRPAEMPTKCV	DHSLSPGWYRFLFLDRPAEMPTKCV	2.0	7.0	-	-	4171_7:12433261-12433261 T>A_DHSLSPGWYRFLFLDRPAEMPTKCV
9:135996412-135996412 G>A	0.0	4171	RECTAL	-	-	-	2	RALGDS	NM_006266,p.P44S|ENST00000372047,p.P44S|NM_001271776,p.P44S|uc004ccq.4,p.P44S|uc004cco.4,p.P44S|ENST00000372050,p.P44S	protein_coding, processed_transcript	uc004ccq.4	nonsynonymous SNV	exon1	c.C130T	p.P44S	AVRLEVGVPDSCPVVLHSFTQLDPD	AVRLEVGVPDSCSVVLHSFTQLDPD	9.0	2.0	unscreened	-	4171_9:135996412-135996412 G>A_AVRLEVGVPDSCSVVLHSFTQLDPD
12:105150785-105150785 C>T	0.0	4171	RECTAL	-	-	-	2	CHST11	NM_001173982,p.T83M|ENST00000549016,p.T48M|NM_018413,p.T88M|uc001tky.3,p.T83M|ENST00000549260,p.T83M|ENST00000303694,p.T88M|uc001tkz.3,p.T88M	protein_coding, processed_transcript	uc001tkz.3	nonsynonymous SNV	exon3	c.C263T	p.T88M	VLHQMRRDQVTDTCRANSATSRKRR	VLHQMRRDQVTDMCRANSATSRKRR	6.0	9.0	-	-	4171_12:105150785-105150785 C>T_VLHQMRRDQVTDMCRANSATSRKRR
17:43198306-43198306 G>A	1.0	4171	RECTAL	-	-	-	-	PLCD3	ENST00000590644,p.R150C|uc002iib.3,p.R173C|ENST00000538093,p.R109C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002iib.3	nonsynonymous SNV	exon3	c.C517T	p.R173C	QRWVRGLTKLRARLDAMSQRERLDH	QRWVRGLTKLRACLDAMSQRERLDH	9.0	9.0	-	-	4171_17:43198306-43198306 G>A_QRWVRGLTKLRACLDAMSQRERLDH
17:43198306-43198306 G>A	1.0	4171	RECTAL	-	-	-	-	PLCD3	ENST00000322765,p.R173C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000322765	nonsynonymous SNV	exon3	c.C517T	p.R173C	QRWVRGLTKLRARLDAMSQRERLDP	QRWVRGLTKLRACLDAMSQRERLDP	9.0	9.0	unscreened	-	4171_17:43198306-43198306 G>A_QRWVRGLTKLRACLDAMSQRERLDP
14:94041410-94041410 T>A	0.0	4171	RECTAL	-	-	-	-	UNC79	ENST00000256339,p.S516T|ENST00000555664,p.S693T|ENST00000553484,p.S693T|NM_020818,p.S516T|uc001ybv.1,p.S516T|ENST00000393151,p.S693T|uc001ybs.1,p.S516T	retained_intron, protein_coding	uc001ybv.1	nonsynonymous SNV	exon14	c.T1546A	p.S516T	VQEQALLWLHVLSELDIMVPLQLLI	VQEQALLWLHVLTELDIMVPLQLLI	1.0	7.0	-	-	4171_14:94041410-94041410 T>A_VQEQALLWLHVLTELDIMVPLQLLI
2:21237450-21237450 G>A	0.0	4171	RECTAL	-	-	-	-	APOB	uc002red.3,p.L1238F|ENST00000233242,p.L1238F|NM_000384,p.L1238F	protein_coding	uc002red.3	nonsynonymous SNV	exon24	c.C3712T	p.L1238F	VGSKLIVAMSSWLQKASGSLPYTQT	VGSKLIVAMSSWFQKASGSLPYTQT	1.0	9.0	-	-	4171_2:21237450-21237450 G>A_VGSKLIVAMSSWFQKASGSLPYTQT
4:186435902-186435902 G>A	0.0	4171	RECTAL	-	-	ID=COSM1594482;OCCURENCE=1(endometrium)	-	PDLIM3	uc003ixx.4,p.A158V|ENST00000284771,p.A158V|uc003ixy.3,p.A158V|NM_001114107,p.A158V|ENST00000284767,p.A158V|uc003ixz.2,p.A158V	retained_intron, protein_coding, nonsense_mediated_decay	uc003ixz.2	nonsynonymous SNV	exon4	c.C473T	p.A158V	PIGLYSTSNIQDALHGQLRGLIPSS	PIGLYSTSNIQDVLHGQLRGLIPSS	6.0	10.0	-	-	4171_4:186435902-186435902 G>A_PIGLYSTSNIQDVLHGQLRGLIPSS
2:55561916-55561916 T>A	0.0	4171	RECTAL	-	-	-	-	CCDC88A	NM_001254943,p.S681C|NM_001135597,p.S681C|uc002ryv.2,p.S681C|uc010ypb.1,p.S583C|ENST00000263630,p.S681C|NM_018084,p.S681C|ENST00000436346,p.S681C|ENST00000413716,p.S681C|uc010yoz.1,p.S681C|uc010ypa.1,p.S681C|ENST00000336838,p.S681C	retained_intron, protein_coding, processed_transcript	uc010ypb.1	nonsynonymous SNV	exon12	c.A1747T	p.S583C	ERENRKLKKTLDSFKNLTFQLESLE	ERENRKLKKTLDCFKNLTFQLESLE	4.0	1.0	-	-	4171_2:55561916-55561916 T>A_ERENRKLKKTLDCFKNLTFQLESLE
2:169997053-169997053 T>C	0.0	4171	RECTAL	-	-	ID=COSM1528834;OCCURENCE=1(lung)	-	LRP2	ENST00000263816,p.I4371V|uc002ues.3,p.I4371V|NM_004525,p.I4371V	retained_intron, protein_coding, processed_transcript	uc002ues.3	nonsynonymous SNV	exon72	c.A13111G	p.I4371V	FIEGSTTECDAAIELPINLPPPCRC	FIEGSTTECDAAVELPINLPPPCRC	2.0	9.0	-	-	4171_2:169997053-169997053 T>C_FIEGSTTECDAAVELPINLPPPCRC
5:137474457-137474457 T>C	0.0	4171	RECTAL	-	-	-	-	NME5	ENST00000265191,p.M5V|NM_003551,p.M5V|uc003lce.3,p.M5V	retained_intron, protein_coding, processed_transcript	uc003lce.3	nonsynonymous SNV	exon2	c.A13G	p.M5V	MEISMPPPQIYVEKTLA	MEISVPPPQIYVEKTLA	4.0	9.0	-	-	4171_5:137474457-137474457 T>C_MEISVPPPQIYVEKTLA
2:138208526-138208526 C>A	0.0	4171	RECTAL	-	-	-	-	THSD7B	ENST00000272643,p.S1024Y|ENST00000413152,p.S993Y|ENST00000409968,p.S1024Y|uc002tva.1,p.S993Y	retained_intron, protein_coding, processed_transcript	uc002tva.1	nonsynonymous SNV	exon14	c.C2978A	p.S993Y	CSSSCGIGVRIRSKWLKEKPYNGGR	CSSSCGIGVRIRYKWLKEKPYNGGR	1.0	1.0	-	-	4171_2:138208526-138208526 C>A_CSSSCGIGVRIRYKWLKEKPYNGGR
5:109977972-109977972 G>A	0.0	4171	RECTAL	-	-	-	-	TMEM232	ENST00000429839,p.L76F|ENST00000512886,p.L76F|ENST00000511883,p.L76F|ENST00000455884,p.L76F|NM_001039763,p.L76F|ENST00000515278,p.L76F|uc011cvh.2,p.L76F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvh.2	nonsynonymous SNV	exon3	c.C226T	p.L76F	KEELLELARKIILRCKRKLGLKTLG	KEELLELARKIIFRCKRKLGLKTLG	4.0	9.0	-	-	4171_5:109977972-109977972 G>A_KEELLELARKIIFRCKRKLGLKTLG
18:31538232-31538232 C>T	0.0	4171	RECTAL	0.0009	-	-	-	NOL4	NM_001198547,p.V329I|NM_001198549,p.V118I|NM_003787,p.V403I|uc010xbs.2,p.V118I|uc010xbt.2,p.V329I|ENST00000261592,p.V403I|uc010dmi.3,p.V403I|ENST00000538587,p.V329I|ENST00000535384,p.V118I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xbt.2	nonsynonymous SNV	exon7	c.G985A	p.V329I	HDDSEKVNETDGVEAERLKAFNMFV	HDDSEKVNETDGIEAERLKAFNMFV	1.0	1.0	unscreened	-	4171_18:31538232-31538232 C>T_HDDSEKVNETDGIEAERLKAFNMFV
12:126135302-126135302 G>A	0.0	4171	RECTAL	-	-	ID=COSM936825;OCCURENCE=3(liver),1(endometrium)	-	TMEM132B	uc001uhe.1,p.A568T|ENST00000299308,p.A568T|uc001uhf.1,p.A80T|NM_001286219,p.A80T|ENST00000535886,p.A80T|NM_052907,p.A568T	retained_intron, protein_coding, processed_transcript	uc001uhf.1	nonsynonymous SNV	exon3	c.G238A	p.A80T	KKGRGCSLQYQHATVRVLTQFVAES	KKGRGCSLQYQHTTVRVLTQFVAES	1.0	5.0	-	-	4171_12:126135302-126135302 G>A_KKGRGCSLQYQHTTVRVLTQFVAES
11:71193028-71193028 C>G	1.0	4171	RECTAL	-	-	-	-	NADSYN1	ENST00000539574,p.I109M|uc001oqn.3,p.I369M|ENST00000319023,p.I369M|uc001oqo.3,p.I109M|NM_018161,p.I369M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc001oqo.3	nonsynonymous SNV	exon13	c.C327G	p.I109M	SGGVDSAATACLIYSMCCQVCEAVR	SGGVDSAATACLMYSMCCQVCEAVR	9.0	6.0	-	-	4171_11:71193028-71193028 C>G_SGGVDSAATACLMYSMCCQVCEAVR
18:31538232-31538232 C>T	0.0	4171	RECTAL	0.0009	-	-	-	NOL4	uc002kxt.4,p.V403I|ENST00000589544,p.V403I|ENST00000269185,p.V289I|NM_001198548,p.V403I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002kxt.4	nonsynonymous SNV	exon7	c.G1207A	p.V403I	HDDSEKVNETDGVEAERLKAFNDES	HDDSEKVNETDGIEAERLKAFNDES	1.0	1.0	unscreened	-	4171_18:31538232-31538232 C>T_HDDSEKVNETDGIEAERLKAFNDES
9:113231319-113231319 C>G	0.0	4171	RECTAL	-	-	-	-	SVEP1	ENST00000401783,p.G1021R|uc010mtz.3,p.G1021R|uc010mua.1,p.G1021R|ENST00000374469,p.G998R|NM_153366,p.G1021R|ENST00000302728,p.G1021R	protein_coding, processed_transcript	uc010mua.1	nonsynonymous SNV	exon17	c.G3061C	p.G1021R	NLEHFTCESCRIGSYQDEEGQLECK	NLEHFTCESCRIRSYQDEEGQLECK	3.0	7.0	-	-	4171_9:113231319-113231319 C>G_NLEHFTCESCRIRSYQDEEGQLECK
17:40362434-40362434 G>T	1.0	4171	RECTAL	-	-	-	1	STAT5B	NM_012448,p.H588N|uc002hzh.3,p.H588N|ENST00000293328,p.H588N	retained_intron, protein_coding	uc002hzh.3	nonsynonymous SNV	exon14	c.C1762A	p.H588N	GVMEVLKKHLKPHWNDGAILGFVNK	GVMEVLKKHLKPNWNDGAILGFVNK	7.0	5.0	-	-	4171_17:40362434-40362434 G>T_GVMEVLKKHLKPNWNDGAILGFVNK
18:31538232-31538232 C>T	0.0	4171	RECTAL	0.0009	-	-	-	NOL4	uc010xbu.2,p.V403I|ENST00000535475,p.V248I|ENST00000586553,p.V152I|uc002kxr.4,p.V239I|NM_001198546,p.V403I|uc010xbv.1,p.V152I|ENST00000590712,p.V387I|uc010dmh.3,p.V329I|NM_001282527,p.V248I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xbv.1	nonsynonymous SNV	exon3	c.G454A	p.V152I	HDDSEKVNETDGVEAERLKAFNSRP	HDDSEKVNETDGIEAERLKAFNSRP	1.0	1.0	unscreened	-	4171_18:31538232-31538232 C>T_HDDSEKVNETDGIEAERLKAFNSRP
18:67563194-67563194 G>A	0.0	4171	RECTAL	-	-	ID=COSM3937795;OCCURENCE=1(oesophagus)	-	CD226	NM_006566,p.T157M|ENST00000582621,p.T157M|ENST00000579496,p.T157M|ENST00000280200,p.T157M|uc010dqo.3,p.T157M|uc002lkm.4,p.T157M	protein_coding, nonsense_mediated_decay	uc010dqo.3	nonsynonymous SNV	exon3	c.C470T	p.T157M	GKNVTLTCQPQMTWPVQAVRWEKIQ	GKNVTLTCQPQMMWPVQAVRWEKIQ	4.0	10.0	-	-	4171_18:67563194-67563194 G>A_GKNVTLTCQPQMMWPVQAVRWEKIQ
20:57429448-57429448 G>A	0.0	4171	RECTAL	-	-	-	1	GNAS	ENST00000306120,p.R313Q|NM_001077490,p.R314Q	retained_intron, protein_coding, processed_transcript	NM_001077490	nonsynonymous SNV	exon1	c.G941A	p.R314Q	PLMPRREEKYPLRGTDPLPPGQPQR	PLMPRREEKYPLQGTDPLPPGQPQR	10.0	4.0	-	-	4171_20:57429448-57429448 G>A_PLMPRREEKYPLQGTDPLPPGQPQR
X:107225095-107225095 C>T	0.0	4171	RECTAL	-	-	ID=COSM1464726;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue)	-	TEX13B	uc004enn.1,p.R88H|ENST00000302917,p.R88H|NM_031273,p.R88H	protein_coding	uc004enn.1	nonsynonymous SNV	exon2	c.G263A	p.R88H	VRFAHRQGQLQNRRVQWLQGFAKLH	VRFAHRQGQLQNHRVQWLQGFAKLH	1.0	10.0	-	-	4171_X:107225095-107225095 C>T_VRFAHRQGQLQNHRVQWLQGFAKLH
9:107331812-107331812 C>T	0.0	4171	RECTAL	-	-	ID=COSM1553775;OCCURENCE=1(lung)	-	OR13C8	ENST00000335040,p.R122C|NM_001004483,p.R122C|uc011lvo.2,p.R122C	protein_coding	uc011lvo.2	nonsynonymous SNV	exon1	c.C364T	p.R122C	TECMILGTMALDRYVAICYPLRYPV	TECMILGTMALDCYVAICYPLRYPV	1.0	6.0	-	-	4171_9:107331812-107331812 C>T_TECMILGTMALDCYVAICYPLRYPV
20:18794572-18794572 A>G	0.0	4171	RECTAL	-	-	-	-	SCP2D1	uc002wrk.3,p.E38G|ENST00000377428,p.E38G|NM_178483,p.E38G	protein_coding	uc002wrk.3	nonsynonymous SNV	exon1	c.A113G	p.E38G	GSVPEPAMPHPLELSEFESFPVFQD	GSVPEPAMPHPLGLSEFESFPVFQD	1.0	1.0	unscreened	-	4171_20:18794572-18794572 A>G_GSVPEPAMPHPLGLSEFESFPVFQD
14:45665441-45665441 G>-	0.0	4171	RECTAL	-	-	-	-	FANCM	ENST00000542564,p.A1777fs|uc010anf.3,p.A1777fs|ENST00000556250,p.A1319fs|ENST00000557110,p.A23fs|uc001wwe.4,p.A1339fs|uc001wwd.4,p.A1803fs|ENST00000267430,p.A1803fs|NM_020937,p.A1803fs|uc010ang.3,p.A1052fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ang.3	frameshift deletion	exon9	c.3154delG	p.A1052fs	SGASCSKSRPHLAGTHTSLRLPQEG	SGASCSKSRPHLLGHILLLDFRRKEKEPVFL	5.0	7.0	unscreened	-	4171_14:45665441-45665441 G>-_SGASCSKSRPHLLGHILLLDFRRKEKEPVFL
10:17657796-17657796 T>C	0.0	4171	RECTAL	-	-	-	-	PTPLA	uc001ipi.3,p.D142G|ENST00000326961,p.D142G	retained_intron, protein_coding, nonsense_mediated_decay	uc001ipi.3	nonsynonymous SNV	exon2	c.A425G	p.D142G	PPRPINFCIFGRDRVSPCWPGWSRT	PPRPINFCIFGRGRVSPCWPGWSRT	6.0	6.0	-	-	4171_10:17657796-17657796 T>C_PPRPINFCIFGRGRVSPCWPGWSRT
X:108696821-108696821 C>T	0.0	4171	RECTAL	-	-	-	-	GUCY2F	uc022cch.1,p.G434R|ENST00000218006,p.G434R|uc004eod.4,p.G434R|NM_001522,p.G434R	protein_coding	uc022cch.1	nonsynonymous SNV	exon3	c.G1300A	p.G434R	YTVDMEMELLRFGGTPIHFPGGRPP	YTVDMEMELLRFRGTPIHFPGGRPP	1.0	4.0	-	-	4171_X:108696821-108696821 C>T_YTVDMEMELLRFRGTPIHFPGGRPP
2:207146608-207146608 G>A	0.0	4171	RECTAL	-	-	-	-	ZDBF2	ENST00000374423,p.R12H|NM_020923,p.R12H|uc002vbp.2,p.R12H	protein_coding	uc002vbp.2	nonsynonymous SNV	exon3	c.G35A	p.R12H	MQKRQGYCSYCRVQYNNLEQHLFS	MQKRQGYCSYCHVQYNNLEQHLFS	2.0	7.0	-	-	4171_2:207146608-207146608 G>A_MQKRQGYCSYCHVQYNNLEQHLFS
14:20216112-20216112 G>T	0.0	4171	RECTAL	-	-	-	-	OR4Q3	ENST00000331723,p.D176Y|NM_172194,p.D176Y|uc010tkt.2,p.D176Y	protein_coding	uc010tkt.2	nonsynonymous SNV	exon1	c.G526T	p.D176Y	VIQLPFCGPNELDNFYCDVPQVIKL	VIQLPFCGPNELYNFYCDVPQVIKL	1.0	2.0	unscreened	-	4171_14:20216112-20216112 G>T_VIQLPFCGPNELYNFYCDVPQVIKL
3:10443850-10443850 C>T	0.0	4171	RECTAL	-	-	-	-	ATP2B2	ENST00000460129,p.V194M|ENST00000343816,p.V194M|NM_001683,p.V194M|ENST00000397077,p.V194M|NM_001001331,p.V194M|uc010hdp.2,p.V194M|ENST00000360273,p.V194M|ENST00000452124,p.V81M|ENST00000352432,p.V194M|uc003bvw.3,p.V194M|ENST00000383800,p.V194M|uc003bvt.3,p.V194M|uc003bvv.3,p.V194M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hdp.2	nonsynonymous SNV	exon4	c.G580A	p.V194M	LQSRIEQEQKFTVVRAGQVVQIPVA	LQSRIEQEQKFTMVRAGQVVQIPVA	1.0	5.0	-	-	4171_3:10443850-10443850 C>T_LQSRIEQEQKFTMVRAGQVVQIPVA
5:82816113-82816113 T>C	0.0	4171	RECTAL	-	-	-	-	VCAN	ENST00000342785,p.I663T|NM_004385,p.I663T|NM_001164098,p.I663T|ENST00000512590,p.I615T|ENST00000265077,p.I663T|uc003kii.3,p.I663T|uc010jau.2,p.I663T	retained_intron, protein_coding, processed_transcript	uc010jau.2	nonsynonymous SNV	exon7	c.T1988C	p.I663T	TEIELFPYSGDKILVEGISTVIYPS	TEIELFPYSGDKTLVEGISTVIYPS	6.0	9.0	-	-	4171_5:82816113-82816113 T>C_TEIELFPYSGDKTLVEGISTVIYPS
13:78337315-78337315 G>C	0.0	4171	RECTAL	-	-	-	-	SLAIN1	ENST00000488699,p.S414T|uc010aex.1,p.S179T|ENST00000314070,p.S179T|NM_144595,p.S293T|NM_001242870,p.S179T|NM_001242868,p.S578T|NM_001040153,p.S414T|uc010aey.1,p.S179T|uc010thz.1,p.S292T|ENST00000358679,p.S293T|NM_001242871,p.S292T|uc001vkm.2,p.S293T|ENST00000466548,p.S556T|ENST00000418532,p.S337T|uc010thy.1,p.S414T|uc001vkk.3,p.S578T|ENST00000267219,p.S337T|ENST00000351546,p.S293T|NM_001242869,p.S179T|uc001vkl.1,p.S293T	protein_coding, processed_transcript	uc010thz.1	nonsynonymous SNV	exon6	c.G875C	p.S292T	SFLQPPKPLSSLSTLRDGNWRDGCY	SFLQPPKPLSSLTTLRDGNWRDGCY	5.0	9.0	-	-	4171_13:78337315-78337315 G>C_SFLQPPKPLSSLTTLRDGNWRDGCY
11:4592818-4592818 A>C	0.0	4171	RECTAL	-	-	-	-	C11orf40	ENST00000307616,p.C163W|NM_144663,p.C163W|uc010qyg.2,p.C163W	protein_coding	uc010qyg.2	nonsynonymous SNV	exon4	c.T489G	p.C163W	MSLKATNMQHCKCSIATSDWAIELD	MSLKATNMQHCKWSIATSDWAIELD	1.0	2.0	unscreened	-	4171_11:4592818-4592818 A>C_MSLKATNMQHCKWSIATSDWAIELD
5:153783682-153783682 C>T	0.0	4171	RECTAL	-	-	-	-	GALNT10	ENST00000377657,p.R30C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000377657	nonsynonymous SNV	exon1	c.C88T	p.R30C	FLLAMQVWMCGGRMEDIPCSRVGHI	FLLAMQVWMCGGCMEDIPCSRVGHI	8.0	6.0	-	-	4171_5:153783682-153783682 C>T_FLLAMQVWMCGGCMEDIPCSRVGHI
12:53011899-53011899 T>G	0.0	4171	RECTAL	-	-	-	-	KRT73	NM_175068,p.K137T|uc001sas.3,p.K137T|ENST00000305748,p.K137T	retained_intron, protein_coding	uc001sas.3	nonsynonymous SNV	exon1	c.A410C	p.K137T	IQKVRAQEREQIKVLNNKFASFIDK	IQKVRAQEREQITVLNNKFASFIDK	1.0	4.0	-	-	4171_12:53011899-53011899 T>G_IQKVRAQEREQITVLNNKFASFIDK
20:44669996-44669996 T>C	0.0	4171	RECTAL	-	-	-	-	SLC12A5	uc010zxl.1,p.S318P|uc002xrb.2,p.S295P|NM_020708,p.S295P|ENST00000454036,p.S318P|ENST00000243964,p.S295P|NM_001134771,p.S318P	protein_coding	uc010zxl.1	nonsynonymous SNV	exon8	c.T952C	p.S318P	NFPICLLGNRTLSRHGFDVCAKLAW	NFPICLLGNRTLPRHGFDVCAKLAW	1.0	1.0	unscreened	-	4171_20:44669996-44669996 T>C_NFPICLLGNRTLPRHGFDVCAKLAW
12:53918375-53918375 T>G	0.0	4171	RECTAL	-	-	-	-	ATF7	ENST00000420353,p.E366D|ENST00000415113,p.E345D|ENST00000328463,p.E377D|uc010sol.2,p.E345D|NM_006856,p.E366D|ENST00000548446,p.E377D|NM_001130060,p.E345D|ENST00000591834,p.E366D|ENST00000456903,p.E366D|uc001sdz.3,p.E366D	retained_intron, protein_coding, processed_transcript	uc010sol.2	nonsynonymous SNV	exon10	c.A1035C	p.E345D	KLWVSSLEKKAEELTSQNIQLSNEV	KLWVSSLEKKAEDLTSQNIQLSNEV	7.0	3.0	-	-	4171_12:53918375-53918375 T>G_KLWVSSLEKKAEDLTSQNIQLSNEV
4:155241723-155241723 T>A	0.0	4171	RECTAL	-	-	-	-	DCHS2	ENST00000357232,p.I1155F|uc003inw.2,p.I1155F|NM_017639,p.I1155F	protein_coding, processed_transcript	uc003inw.2	nonsynonymous SNV	exon14	c.A3463T	p.I1155F	DRRLRSLTAQIVILDVNDHNPTFIS	DRRLRSLTAQIVFLDVNDHNPTFIS	2.0	4.0	-	-	4171_4:155241723-155241723 T>A_DRRLRSLTAQIVFLDVNDHNPTFIS
14:93677052-93677052 C>-	0.0	4171	RECTAL	-	-	-	-	UBR7	uc001ybn.4,p.P39fs|ENST00000557574,p.P134fs|uc001ybm.4,p.P115fs|ENST00000013070,p.P115fs|ENST00000416753,p.P39fs|NM_175748,p.P115fs	protein_coding, nonsense_mediated_decay	uc001ybn.4	frameshift deletion	exon2	c.115delC	p.P39fs	NSKFKNLECKLLPDKAKVNSGNKYN	NSKFKNLECKLLLTKQR	6.0	8.0	-	-	4171_14:93677052-93677052 C>-_NSKFKNLECKLLLTKQR
19:35231813-35231813 T>A	0.0	4171	RECTAL	-	-	-	-	ZNF181	NM_001029997,p.I176N|ENST00000459757,p.I175N|uc010xsc.1,p.I111N|uc010xsb.1,p.I175N|ENST00000492450,p.I176N|uc002nvu.3,p.I176N|ENST00000392232,p.I220N|NM_001145665,p.I175N	retained_intron, protein_coding	uc010xsc.1	nonsynonymous SNV	exon3	c.T332A	p.I111N	FHSKSTLSEPQKISAEGNSHKYDIL	FHSKSTLSEPQKNSAEGNSHKYDIL	7.0	10.0	-	-	4171_19:35231813-35231813 T>A_FHSKSTLSEPQKNSAEGNSHKYDIL
1:244715960-244715960 C>G	0.0	4171	RECTAL	-	-	-	-	C1orf101	ENST00000366531,p.I140M|ENST00000428042,p.I211M|uc010pyn.2,p.I224M|uc001ial.3,p.I291M|uc010pym.2,p.I140M|ENST00000366533,p.I291M|ENST00000366534,p.I291M|NM_173807,p.I291M|NM_001130957,p.I291M|NM_001242340,p.I140M|uc001iam.3,p.I291M	protein_coding, processed_transcript	uc010pyn.2	nonsynonymous SNV	exon5	c.C672G	p.I224M	LSDDERRSVAHVILSRDGIVFLING	LSDDERRSVAHVMLSRDGIVFLING	1.0	3.0	-	-	4171_1:244715960-244715960 C>G_LSDDERRSVAHVMLSRDGIVFLING
19:11545620-11545620 T>G	0.0	4171	RECTAL	-	-	-	-	CCDC151	ENST00000591345,p.E73A	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000591345	nonsynonymous SNV	exon1	c.A218C	p.E73A	GAGKPSVHSQVAELHKKIQLLESHS	GAGKPSVHSQVAALHKKIQLLESHS	1.0	4.0	-	-	4171_19:11545620-11545620 T>G_GAGKPSVHSQVAALHKKIQLLESHS
15:22956496-22956496 A>G	0.0	4171	RECTAL	-	-	-	-	CYFIP1	NM_001033028,p.K147R|ENST00000435939,p.K147R|uc010aya.1,p.K606R|ENST00000313077,p.K578R|uc001yus.3,p.K578R|NM_001287810,p.K578R|uc001yuu.3,p.K147R|ENST00000560848,p.K578R|uc001yut.3,p.K578R|NM_014608,p.K578R	retained_intron, protein_coding, nonsense_mediated_decay	uc010aya.1	nonsynonymous SNV	exon15	c.A1817G	p.K606R	LESLIADKSGSKKTLRSSLEGPTIL	LESLIADKSGSKRTLRSSLEGPTIL	10.0	3.0	-	-	4171_15:22956496-22956496 A>G_LESLIADKSGSKRTLRSSLEGPTIL
1:104163228-104163228 G>A	0.0	4171	RECTAL	-	-	-	-	AMY2A	uc001dut.3,p.R267Q|NM_000699,p.R267Q|ENST00000414303,p.R267Q	protein_coding, processed_transcript	uc001dut.3	nonsynonymous SNV	exon5	c.G800A	p.R267Q	EPIKSSDYFGNGRVTEFKYGAKLGT	EPIKSSDYFGNGQVTEFKYGAKLGT	2.0	8.0	-	-	4171_1:104163228-104163228 G>A_EPIKSSDYFGNGQVTEFKYGAKLGT
19:11545620-11545620 T>G	0.0	4171	RECTAL	-	-	-	-	CCDC151	ENST00000356392,p.E73A|ENST00000591179,p.E73A|NM_145045,p.E73A|uc010dxz.3,p.E73A|uc002mrs.3,p.E73A	retained_intron, protein_coding, nonsense_mediated_decay	uc010dxz.3	nonsynonymous SNV	exon1	c.A218C	p.E73A	GAGKPSVHSQVAELHKKIQLLEGDR	GAGKPSVHSQVAALHKKIQLLEGDR	1.0	4.0	-	-	4171_19:11545620-11545620 T>G_GAGKPSVHSQVAALHKKIQLLEGDR
6:152469351-152469351 G>A	0.0	4171	RECTAL	-	-	ID=COSM277544,COSM3697378,COSM3697379,COSM277543,COSM3697380;OCCURENCE=2(large_intestine)	-	SYNE1	uc003qor.4,p.R1169W|NM_182961,p.R8269W|ENST00000539504,p.R424W|ENST00000265368,p.R8269W|uc003qou.4,p.R8269W|ENST00000367255,p.R8269W|ENST00000356820,p.R2793W|ENST00000367251,p.R1191W|uc011eez.2,p.R471W|ENST00000448038,p.R8198W|ENST00000354674,p.R424W|uc003qoq.4,p.R471W|ENST00000341594,p.R7881W|uc003qot.4,p.R8198W|ENST00000367257,p.R915W|uc003qos.4,p.R2793W|NM_033071,p.R8198W|ENST00000423061,p.R8198W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011eez.2	nonsynonymous SNV	exon10	c.C1411T	p.R471W	LSLSLAQPLRSERSGRDTPASVDSI	LSLSLAQPLRSEWSGRDTPASVDSI	5.0	9.0	-	-	4171_6:152469351-152469351 G>A_LSLSLAQPLRSEWSGRDTPASVDSI
5:140589459-140589459 T>G	0.0	4171	RECTAL	-	-	-	-	PCDHB12	ENST00000239450,p.L327R|uc003liz.3,p.L327R|NM_018932,p.L327R	protein_coding	uc003liz.3	nonsynonymous SNV	exon1	c.T980G	p.L327R	YSIIIQATDGGGLFGKSTVRIQVMD	YSIIIQATDGGGRFGKSTVRIQVMD	2.0	4.0	-	-	4171_5:140589459-140589459 T>G_YSIIIQATDGGGRFGKSTVRIQVMD
18:44549607-44549607 C>T	0.0	4171	RECTAL	-	rs78660295	-	-	TCEB3C,TCEB3CL,TCEB3CL2	uc021ujl.1,p.R231H|ENST00000451265,p.R231H|NM_001242907,p.R231H|NM_001100817,p.R231H|NM_145653,p.R231H	protein_coding	uc021ujl.1	nonsynonymous SNV	exon1	c.G692A	p.R231H	AVGSHSKGHKSSRGASAQKSPPVQE	AVGSHSKGHKSSHGASAQKSPPVQE	1.0	2.0	unscreened	-	4171_18:44549607-44549607 C>T_AVGSHSKGHKSSHGASAQKSPPVQE
5:35955811-35955811 G>A	0.0	4171	RECTAL	-	-	-	-	UGT3A1	ENST00000507113,p.R377W|NM_152404,p.R411W|uc011cor.2,p.R377W|uc011coq.2,p.R411W|uc003jjv.2,p.R411W|ENST00000274278,p.R411W|ENST00000503189,p.R411W	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cor.2	nonsynonymous SNV	exon5	c.C1129T	p.R377W	VRVVAKNYGVSIRLNQVTADTLTLT	VRVVAKNYGVSIWLNQVTADTLTLT	1.0	10.0	-	-	4171_5:35955811-35955811 G>A_VRVVAKNYGVSIWLNQVTADTLTLT
19:15271759-15271759 T>C	0.0	4171	RECTAL	-	-	-	-	NOTCH3	ENST00000263388,p.H2227R|NM_000435,p.H2227R|uc002nan.3,p.H2227R	retained_intron, protein_coding, nonsense_mediated_decay	uc002nan.3	nonsynonymous SNV	exon33	c.A6680G	p.H2227R	PGHGEEYPAAGAHSSPPKARFLRVP	PGHGEEYPAAGARSSPPKARFLRVP	5.0	9.0	unscreened	-	4171_19:15271759-15271759 T>C_PGHGEEYPAAGARSSPPKARFLRVP
8:21563537-21563537 A>C	0.0	4171	RECTAL	-	-	-	-	GFRA2	ENST00000517328,p.F271V|uc003wzw.1,p.F138V|uc003wzv.1,p.F166V|ENST00000524240,p.F271V|ENST00000517892,p.F166V|NM_001495,p.F271V|NM_001165039,p.F138V|NM_001165038,p.F166V|ENST00000400782,p.F166V|uc003wzu.1,p.F271V|ENST00000518077,p.F138V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003wzw.1	nonsynonymous SNV	exon3	c.T412G	p.F138V	RTDHLCRSRLADFHANCRASYQTVT	RTDHLCRSRLADVHANCRASYQTVT	3.0	8.0	-	-	4171_8:21563537-21563537 A>C_RTDHLCRSRLADVHANCRASYQTVT
19:1785550-1785550 G>A	0.0	4171	RECTAL	-	-	-	-	ATP8B3	uc002ltw.4,p.T1104M|NM_001178002,p.T1067M|ENST00000310127,p.T1104M|ENST00000525591,p.T1067M|NM_138813,p.T1104M|uc002ltv.4,p.T1067M|ENST00000539485,p.T1114M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ltw.4	nonsynonymous SNV	exon26	c.C3311T	p.T1104M	VNFFMTLWISRDTAGPASFSDHQSF	VNFFMTLWISRDMAGPASFSDHQSF	1.0	8.0	-	-	4171_19:1785550-1785550 G>A_VNFFMTLWISRDMAGPASFSDHQSF
5:153783682-153783682 C>T	0.0	4171	RECTAL	-	-	-	-	GALNT10	uc010jid.3,p.R200C|uc003lvh.3,p.R359C|ENST00000297107,p.R359C|ENST00000377661,p.R297C|NM_198321,p.R359C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jid.3	nonsynonymous SNV	exon5	c.C598T	p.R200C	YEISFKVWMCGGRMEDIPCSRVGHI	YEISFKVWMCGGCMEDIPCSRVGHI	8.0	6.0	-	-	4171_5:153783682-153783682 C>T_YEISFKVWMCGGCMEDIPCSRVGHI
17:61611656-61611656 G>A	0.0	4171	RECTAL	-	-	-	-	KCNH6	uc002jax.1,p.R362H|ENST00000581784,p.R362H|uc002jaz.1,p.R362H|ENST00000456941,p.R362H|ENST00000580652,p.R362H|uc010wpm.2,p.R362H|ENST00000314672,p.R362H|NM_001278919,p.R362H|uc002jay.3,p.R362H|uc010wpl.2,p.R239H|NM_001278920,p.R239H|NM_030779,p.R362H|ENST00000583023,p.R362H|NM_173092,p.R362H	protein_coding, nonsense_mediated_decay	uc010wpm.2	nonsynonymous SNV	exon5	c.G1085A	p.R362H	MVAAIPFDLLIFRTGSDETTTLIGL	MVAAIPFDLLIFHTGSDETTTLIGL	1.0	10.0	-	-	4171_17:61611656-61611656 G>A_MVAAIPFDLLIFHTGSDETTTLIGL
1:212799775-212799775 C>T	0.0	4171	RECTAL	-	-	-	-	FAM71A	uc001hjk.3,p.S519F|NM_153606,p.S519F|ENST00000294829,p.S519F	protein_coding	uc001hjk.3	nonsynonymous SNV	exon1	c.C1556T	p.S519F	KSGRSLWTTSSGSSKGLGRVSSFLR	KSGRSLWTTSSGFSKGLGRVSSFLR	1.0	7.0	-	-	4171_1:212799775-212799775 C>T_KSGRSLWTTSSGFSKGLGRVSSFLR
1:152749107-152749107 G>A	0.0	4171	RECTAL	-	-	-	-	LCE1F	NM_178354,p.R87H|ENST00000334371,p.R87H|uc010pdv.2,p.R87H	protein_coding	uc010pdv.2	nonsynonymous SNV	exon1	c.G260A	p.R87H	CCLSHHRRRRSHRHRPQSSDCCSQP	CCLSHHRRRRSHHHRPQSSDCCSQP	1.0	10.0	-	-	4171_1:152749107-152749107 G>A_CCLSHHRRRRSHHHRPQSSDCCSQP
3:38592932-38592932 C>T	0.0	4171	RECTAL	-	-	ID=COSM187289;OCCURENCE=1(large_intestine)	-	SCN5A	NM_001160161,p.R1590H|uc021wvo.1,p.R1644H|ENST00000449557,p.R1590H|ENST00000425664,p.R1626H|ENST00000451551,p.R1590H|uc021wvi.1,p.R1510H|ENST00000414099,p.R1626H|uc021wvk.1,p.R1611H|ENST00000443581,p.R1643H|NM_000335,p.R1643H|uc021wvp.1,p.R1644H|ENST00000413689,p.R1644H|uc021wvm.1,p.R1626H|uc021wvn.1,p.R1643H|uc021wvl.1,p.R1590H|NM_001099404,p.R1644H|NM_001099405,p.R1626H|NM_001160160,p.R1611H|NM_198056,p.R1644H|ENST00000423572,p.R1643H|ENST00000333535,p.R1644H|uc021wvj.1,p.R1456H|ENST00000455624,p.R1611H|ENST00000450102,p.R1590H	retained_intron, protein_coding, processed_transcript	uc021wvp.1	nonsynonymous SNV	exon27	c.G4931A	p.R1644H	RILRLIRGAKGIRTLLFALMMSLPA	RILRLIRGAKGIHTLLFALMMSLPA	2.0	9.0	-	-	4171_3:38592932-38592932 C>T_RILRLIRGAKGIHTLLFALMMSLPA
11:20486070-20486070 T>G	1.0	4171	RECTAL	-	-	-	-	PRMT3	ENST00000331079,p.I442S|NM_005788,p.I442S|NM_001145167,p.I365S|uc010rdn.2,p.I380S|uc001mqc.3,p.I365S|uc001mqb.3,p.I442S|NM_001145166,p.I380S|ENST00000437750,p.I380S	retained_intron, protein_coding, nonsense_mediated_decay	uc010rdn.2	nonsynonymous SNV	exon11	c.T1139G	p.I380S	SDLEFSSDFTLKITRTSMCTAIAGY	SDLEFSSDFTLKSTRTSMCTAIAGY	8.0	6.0	-	-	4171_11:20486070-20486070 T>G_SDLEFSSDFTLKSTRTSMCTAIAGY
20:44747031-44747031 G>A	0.0	4171	RECTAL	-	-	-	-	CD40	uc002xrg.1,p.A17T|uc002xrh.1,p.A17T|uc002xrf.1,p.A17T|ENST00000372276,p.A17T|NM_152854,p.A17T|NM_001250,p.A17T|ENST00000372285,p.A17T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002xrh.1	nonsynonymous SNV	exon1	c.G49A	p.A17T	PLQCVLWGCLLTAVHPEPPTACREK	PLQCVLWGCLLTTVHPEPPTACREK	6.0	2.0	-	-	4171_20:44747031-44747031 G>A_PLQCVLWGCLLTTVHPEPPTACREK
2:96259989-96259989 T>C	0.0	4171	RECTAL	-	-	-	-	TRIM43	uc002suv.3,p.L73S|ENST00000272395,p.L73S|NM_138800,p.L73S	protein_coding	uc002suv.3	nonsynonymous SNV	exon2	c.T218C	p.L73S	KMDFKTNILLKNLVTIARKASLWQF	KMDFKTNILLKNSVTIARKASLWQF	1.0	9.0	-	-	4171_2:96259989-96259989 T>C_KMDFKTNILLKNSVTIARKASLWQF
X:153881612-153881612 C>T	0.0	4171	RECTAL	-	-	-	-	CTAG2	ENST00000247306,p.A60T|NM_020994,p.A60T|ENST00000369585,p.A60T|uc004fmi.2,p.A60T|NM_172377,p.A60T|uc004fmh.2,p.A60T	protein_coding	uc004fmi.2	nonsynonymous SNV	exon1	c.G178A	p.A60T	AGAARASGPRGGAPRGPHGGAASAQ	AGAARASGPRGGTPRGPHGGAASAQ	1.0	10.0	-	-	4171_X:153881612-153881612 C>T_AGAARASGPRGGTPRGPHGGAASAQ
8:1645340-1645340 T>A	0.0	4171	RECTAL	-	-	-	-	DLGAP2	ENST00000421627,p.S862T|uc003wpm.4,p.S848T|NM_004745,p.S862T|uc003wpl.4,p.S862T|NM_001277161,p.S848T	retained_intron, protein_coding, processed_transcript	uc003wpm.4	nonsynonymous SNV	exon10	c.T2542A	p.S848T	QNMDPSAMPRPTSQDLAGYWDMLQL	QNMDPSAMPRPTTQDLAGYWDMLQL	1.0	2.0	-	-	4171_8:1645340-1645340 T>A_QNMDPSAMPRPTTQDLAGYWDMLQL
6:161152110-161152110 T>A	0.0	4171	RECTAL	-	-	-	-	PLG	NM_000301,p.N428K|ENST00000308192,p.N428K|uc003qtm.4,p.N428K	retained_intron, protein_coding, processed_transcript	uc003qtm.4	nonsynonymous SNV	exon11	c.T1284A	p.N428K	YPNAGLTMNYCRNPDADKGPWCFTT	YPNAGLTMNYCRKPDADKGPWCFTT	1.0	3.0	-	-	4171_6:161152110-161152110 T>A_YPNAGLTMNYCRKPDADKGPWCFTT
19:19654847-19654847 A>G	0.0	4171	RECTAL	-	-	-	-	CILP2	NM_153221,p.E498G|uc002nmw.4,p.E504G|ENST00000291495,p.E498G|ENST00000586018,p.E504G|uc002nmv.4,p.E498G	retained_intron, protein_coding	uc002nmw.4	nonsynonymous SNV	exon8	c.A1511G	p.E504G	EPLRFARILLGQEPIGFTAYQGDFT	EPLRFARILLGQGPIGFTAYQGDFT	2.0	2.0	-	-	4171_19:19654847-19654847 A>G_EPLRFARILLGQGPIGFTAYQGDFT
20:25493585-25493585 C>T	0.0	4171	RECTAL	0.0009	-	-	-	NINL	uc010gdn.1,p.R112Q|uc002wux.1,p.R112Q|ENST00000278886,p.R112Q|uc010ztf.1,p.R128Q|NM_025176,p.R112Q|ENST00000422516,p.R112Q	protein_coding, processed_transcript	uc010ztf.1	nonsynonymous SNV	exon4	c.G383A	p.R128Q	PKYVNGSKWYGRRSRPELCDAATEA	PKYVNGSKWYGRQSRPELCDAATEA	4.0	1.0	unscreened	-	4171_20:25493585-25493585 C>T_PKYVNGSKWYGRQSRPELCDAATEA
10:46121434-46121434 T>G	0.0	4171	RECTAL	-	-	-	-	ZFAND4	uc001jcm.4,p.S613R|NM_001282906,p.S539R|NM_001128324,p.S613R|uc001jcp.4,p.S613R|uc001jcn.4,p.S539R|NM_001282905,p.S539R|NM_174890,p.S613R|uc001jcl.4,p.S133R|ENST00000374366,p.S539R|ENST00000344646,p.S613R|uc009xmu.3,p.S539R	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xmu.3	nonsynonymous SNV	exon8	c.A1615C	p.S539R	NLQHFQEENFRKSSPQLEHTGVFLS	NLQHFQEENFRKRSPQLEHTGVFLS	5.0	6.0	-	-	4171_10:46121434-46121434 T>G_NLQHFQEENFRKRSPQLEHTGVFLS
X:49021554-49021554 C>A	0.0	4171	RECTAL	-	-	-	-	MAGIX	ENST00000425661,p.N102K|ENST00000454342,p.N50K	protein_coding, processed_transcript	ENST00000454342	nonsynonymous SNV	exon2	c.C150A	p.N50K	HRPQVGDVVLHINGESTQGLTHAQA	HRPQVGDVVLHIKGESTQGLTHAQA	8.0	5.0	unscreened	-	4171_X:49021554-49021554 C>A_HRPQVGDVVLHIKGESTQGLTHAQA
20:43752527-43752527 T>G	0.0	4171	RECTAL	-	-	-	-	WFDC12	ENST00000372785,p.K99T|NM_080869,p.K99T|uc002xnf.1,p.K99T	protein_coding	uc002xnf.1	nonsynonymous SNV	exon3	c.A296C	p.K99T	VSRPYPEPGWEAKCPGSSSTRCPQK	VSRPYPEPGWEATCPGSSSTRCPQK	1.0	1.0	unscreened	-	4171_20:43752527-43752527 T>G_VSRPYPEPGWEATCPGSSSTRCPQK
13:38320292-38320292 G>T	0.0	4171	RECTAL	-	-	ID=COSM1366767,COSM1366768;OCCURENCE=1(large_intestine)	-	TRPC4	NM_001135956,p.L227I|ENST00000355779,p.L227I|ENST00000358477,p.L227I|ENST00000447043,p.L227I|NM_016179,p.L227I|ENST00000379673,p.L227I|ENST00000426868,p.L227I|ENST00000488717,p.L227I|uc001uws.3,p.L227I|uc001uwt.3,p.L227I|uc010tey.2,p.L227I|NM_003306,p.L227I|uc010aby.3,p.L227I|NM_001135957,p.L227I|ENST00000379705,p.L227I|ENST00000379681,p.L227I|uc010abx.3,p.L227I|NM_001135955,p.L227I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tey.2	nonsynonymous SNV	exon3	c.C679A	p.L227I	DPFLTAFQLSWELQELSKVENEFKS	DPFLTAFQLSWEIQELSKVENEFKS	1.0	7.0	-	-	4171_13:38320292-38320292 G>T_DPFLTAFQLSWEIQELSKVENEFKS
3:142272767-142272767 T>A	0.0	4171	RECTAL	-	-	-	1	ATR	uc003eux.4,p.N811I|ENST00000383101,p.N747I|NM_001184,p.N811I|ENST00000350721,p.N811I	retained_intron, protein_coding, nonsense_mediated_decay	uc003eux.4	nonsynonymous SNV	exon11	c.A2432T	p.N811I	ETDVKAVLGTLLNLMEDPDKDVRVA	ETDVKAVLGTLLILMEDPDKDVRVA	7.0	6.0	-	-	4171_3:142272767-142272767 T>A_ETDVKAVLGTLLILMEDPDKDVRVA
8:99441460-99441460 G>A	0.0	4171	RECTAL	-	-	-	-	KCNS2	uc022azb.1,p.R418Q|ENST00000287042,p.R418Q|ENST00000521839,p.R418Q|NM_020697,p.R418Q|uc003yin.3,p.R418Q	protein_coding	uc022azb.1	nonsynonymous SNV	exon1	c.G1253A	p.R418Q	ITLIFNKFSHFYRRQKQLESAMRSC	ITLIFNKFSHFYQRQKQLESAMRSC	1.0	6.0	-	-	4171_8:99441460-99441460 G>A_ITLIFNKFSHFYQRQKQLESAMRSC
2:149866673-149866673 C>T	0.0	4171	RECTAL	-	-	-	-	KIF5C	ENST00000435030,p.R859C|ENST00000397413,p.R627C|uc002twu.1,p.R141C|ENST00000414838,p.R764C|uc010zbu.2,p.R859C|NM_004522,p.R859C	retained_intron, protein_coding, processed_transcript	uc010zbu.2	nonsynonymous SNV	exon24	c.C2575T	p.R859C	VHKQLVRDNADLRCELPKLEKRLRA	VHKQLVRDNADLCCELPKLEKRLRA	3.0	8.0	-	-	4171_2:149866673-149866673 C>T_VHKQLVRDNADLCCELPKLEKRLRA
6:154360740-154360740 A>C	0.0	4171	RECTAL	-	-	-	-	OPRM1	uc011eff.1,p.S21R|uc011efi.2,p.S21R|NM_001145286,p.S21R|NM_001145284,p.S21R|uc003qpo.1,p.S21R|ENST00000519083,p.S21R|NM_001285524,p.S114R|NM_001285523,p.S21R|ENST00000435918,p.S21R|uc003qpq.1,p.S21R|NM_001145279,p.S114R|ENST00000419506,p.S21R|uc011efe.2,p.S114R|uc031sqn.1,p.S83R|NM_000914,p.S21R|ENST00000522739,p.S21R|ENST00000434900,p.S114R|NM_001008505,p.S21R|NM_001145285,p.S21R|NM_001008503,p.S21R|NM_001145283,p.S21R|NM_001145282,p.S21R|ENST00000414028,p.S21R|uc031sqm.1,p.S83R|ENST00000520282,p.S69R|ENST00000452687,p.S21R|ENST00000360422,p.S21R|uc011efb.2,p.S69R|uc011efh.1,p.S21R|NM_001008504,p.S21R|uc003qpr.2,p.S21R|uc003qpn.2,p.S21R|ENST00000330432,p.S21R|ENST00000229768,p.S21R|NM_001285522,p.S21R|ENST00000337049,p.S21R|ENST00000428397,p.S21R|uc011efg.1,p.S21R|uc003qpt.1,p.S21R|ENST00000524150,p.S21R|ENST00000524163,p.S21R	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sqn.1	nonsynonymous SNV	exon1	c.A247C	p.S83R	NASNCTDALAYSSCSPAPSPGSWVN	NASNCTDALAYSRCSPAPSPGSWVN	1.0	1.0	-	-	4171_6:154360740-154360740 A>C_NASNCTDALAYSRCSPAPSPGSWVN
9:4662438-4662438 C>A	1.0	4171	RECTAL	-	-	-	-	PPAPDC2	NM_203453,p.S21R|ENST00000381883,p.S21R|uc003zin.4,p.S21R	protein_coding	uc003zin.4	nonsynonymous SNV	exon1	c.C63A	p.S21R	EGRPLGVSASSSSSSPGSPAHGGGG	EGRPLGVSASSSRSSPGSPAHGGGG	8.0	7.0	-	-	4171_9:4662438-4662438 C>A_EGRPLGVSASSSRSSPGSPAHGGGG
7:107832242-107832242 C>T	0.0	4171	RECTAL	-	-	-	-	NRCAM	ENST00000379022,p.G612R|NM_001037132,p.G612R|uc003vfd.3,p.G593R|ENST00000379028,p.G612R|uc003vfc.3,p.G606R|NM_001193584,p.G593R|ENST00000351718,p.G606R|uc011kmk.2,p.G612R|uc003vfe.3,p.G593R|ENST00000379024,p.G593R|NM_005010,p.G606R|uc022aka.1,p.G612R|ENST00000425651,p.G612R|NM_001193582,p.G612R|ENST00000413765,p.G593R|NM_001193583,p.G593R	retained_intron, protein_coding, processed_transcript	uc022aka.1	nonsynonymous SNV	exon15	c.G1834A	p.G612R	HLVVADVSDDDSGTYTCVANTTLDS	HLVVADVSDDDSRTYTCVANTTLDS	2.0	2.0	-	-	4171_7:107832242-107832242 C>T_HLVVADVSDDDSRTYTCVANTTLDS
19:1457003-1457003 G>A	0.0	4171	RECTAL	-	-	-	-	APC2	uc002lsu.1,p.G322D|ENST00000590469,p.G323D|NM_005883,p.G323D|ENST00000535453,p.G323D|ENST00000233607,p.G323D|uc002lsr.1,p.G323D|uc002lst.1,p.G323D	retained_intron, protein_coding	uc002lsu.1	nonsynonymous SNV	exon8	c.G965A	p.G322D	SGCLPLLLQILHGTEAAAGGRAGAP	SGCLPLLLQILHDTEAAAGGRAGAP	2.0	8.0	-	-	4171_19:1457003-1457003 G>A_SGCLPLLLQILHDTEAAAGGRAGAP
X:49021554-49021554 C>A	0.0	4171	RECTAL	-	-	-	-	MAGIX	uc010nio.1,p.N102K|NM_001099681,p.N102K|NM_001099682,p.N102K|uc004dmt.2,p.N102K	protein_coding, processed_transcript	uc010nio.1	nonsynonymous SNV	exon4	c.C306A	p.N102K	HRPQVGDLVLHINGESTQGLTHAQA	HRPQVGDLVLHIKGESTQGLTHAQA	8.0	5.0	-	-	4171_X:49021554-49021554 C>A_HRPQVGDLVLHIKGESTQGLTHAQA
1:210412853-210412853 G>A	0.0	4171	RECTAL	-	-	-	-	SERTAD4	uc009xcw.3,p.G64E|uc001hhy.3,p.G64E|NM_019605,p.G64E|ENST00000367012,p.G64E	protein_coding, processed_transcript	uc009xcw.3	nonsynonymous SNV	exon2	c.G191A	p.G64E	GAGPPLAGSHYRGISNPITTSKITY	GAGPPLAGSHYREISNPITTSKITY	2.0	7.0	-	-	4171_1:210412853-210412853 G>A_GAGPPLAGSHYREISNPITTSKITY
X:49021554-49021554 C>A	0.0	4171	RECTAL	-	-	-	-	MAGIX	uc004dmu.2,p.N119K|ENST00000376339,p.N119K|ENST00000425285,p.N124K|ENST00000376338,p.N119K|ENST00000412696,p.N178K	protein_coding, processed_transcript	uc004dmu.2	nonsynonymous SNV	exon3	c.C357A	p.N119K	GRLEVGDVVLHINGESTQGLTHAQA	GRLEVGDVVLHIKGESTQGLTHAQA	8.0	5.0	unscreened	-	4171_X:49021554-49021554 C>A_GRLEVGDVVLHIKGESTQGLTHAQA
1:118537063-118537063 C>T	0.0	4171	RECTAL	-	-	-	-	SPAG17	ENST00000336338,p.R1715Q|NM_206996,p.R1715Q|ENST00000437255,p.R195Q|uc001ehk.2,p.R1715Q|uc021osr.1,p.R225Q	protein_coding, processed_transcript	uc021osr.1	nonsynonymous SNV	exon5	c.G674A	p.R225Q	VKKEDTIVPPNLRSRSWETFPSVEK	VKKEDTIVPPNLQSRSWETFPSVEK	1.0	5.0	-	-	4171_1:118537063-118537063 C>T_VKKEDTIVPPNLQSRSWETFPSVEK
5:13753527-13753527 G>C	0.0	4171	RECTAL	-	-	-	-	DNAH5	ENST00000265104,p.L3563V|NM_001369,p.L3563V|uc003jfd.2,p.L3563V	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon63	c.C10687G	p.L3563V	KARKIPFGKNLNLSEMLIDAPTISE	KARKIPFGKNLNVSEMLIDAPTISE	5.0	5.0	-	-	4171_5:13753527-13753527 G>C_KARKIPFGKNLNVSEMLIDAPTISE
19:51961440-51961440 G>A	0.0	4171	RECTAL	-	-	ID=COSM1000030;OCCURENCE=1(endometrium)	-	SIGLEC8	uc010eox.2,p.R68W|NM_014442,p.R68W|uc002pwt.3,p.R68W|ENST00000321424,p.R68W|ENST00000430817,p.R68W|ENST00000340550,p.R68W|uc010yda.2,p.R68W	retained_intron, protein_coding	uc010yda.2	nonsynonymous SNV	exon1	c.C202T	p.R68W	WTDSDPVHGYWFRAGDRPYQDAPVA	WTDSDPVHGYWFWAGDRPYQDAPVA	4.0	7.0	-	-	4171_19:51961440-51961440 G>A_WTDSDPVHGYWFWAGDRPYQDAPVA
5:101755690-101755690 G>A	0.0	4171	RECTAL	-	-	-	-	SLCO6A1	ENST00000379807,p.L438F|uc003knn.3,p.L438F|uc003knp.3,p.L438F|ENST00000506729,p.L438F|NM_001289004,p.L376F|uc003knq.3,p.L376F|ENST00000389019,p.L376F|NM_173488,p.L438F|NM_001289002,p.L438F	retained_intron, protein_coding, processed_transcript	uc003knq.3	nonsynonymous SNV	exon7	c.C1126T	p.L376F	GLVLIPGGALGQLLGGVIVSTLEMS	GLVLIPGGALGQFLGGVIVSTLEMS	1.0	5.0	-	-	4171_5:101755690-101755690 G>A_GLVLIPGGALGQFLGGVIVSTLEMS
20:35155294-35155294 G>A	1.0	4171	RECTAL	-	-	-	-	DLGAP4	uc010zvp.2,p.D944N|ENST00000339266,p.D947N|ENST00000340491,p.D408N|uc002xfg.3,p.D240N|uc002xfh.3,p.D408N|NM_014902,p.D944N|NM_001042486,p.D240N|ENST00000401952,p.D944N|ENST00000373913,p.D944N|uc002xff.3,p.D944N|NM_183006,p.D408N|uc002xfj.3,p.D240N|ENST00000373907,p.D947N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zvp.2	nonsynonymous SNV	exon12	c.G2830A	p.D944N	KSKPAVSRDKASDASDKQRQEARKR	KSKPAVSRDKASNASDKQRQEARKR	9.0	8.0	-	-	4171_20:35155294-35155294 G>A_KSKPAVSRDKASNASDKQRQEARKR
X:49021554-49021554 C>A	0.0	4171	RECTAL	-	-	-	-	MAGIX	NM_024859,p.N178K|uc004dmw.2,p.N111K|uc010nin.1,p.N178K	protein_coding, processed_transcript	uc010nin.1	nonsynonymous SNV	exon5	c.C534A	p.N178K	GRLEVGDLVLHINGESTQGLTHAQA	GRLEVGDLVLHIKGESTQGLTHAQA	8.0	5.0	-	-	4171_X:49021554-49021554 C>A_GRLEVGDLVLHIKGESTQGLTHAQA
X:100746178-100746178 A>C	0.0	4171	RECTAL	-	-	-	-	ARMCX4	uc031tkd.1,p.T868P|uc031tkc.1,p.T868P|ENST00000423738,p.T868P|NM_001256155,p.T868P	protein_coding, processed_transcript, nonsense_mediated_decay	uc031tkd.1	nonsynonymous SNV	exon1	c.A2602C	p.T868P	SKAGAREDTVGSTQPQVLASSQRET	SKAGAREDTVGSPQPQVLASSQRET	4.0	3.0	unscreened	-	4171_X:100746178-100746178 A>C_SKAGAREDTVGSPQPQVLASSQRET
7:6561098-6561098 G>A	0.0	4171	RECTAL	-	-	-	-	GRID2IP	ENST00000457091,p.T349M|ENST00000452113,p.T159M|uc011jwx.2,p.T349M|ENST00000435185,p.T166M|NM_001145118,p.T349M	protein_coding	uc011jwx.2	nonsynonymous SNV	exon6	c.C1046T	p.T349M	VVSMLQGSGAMPTLVVEEGLVPFAS	VVSMLQGSGAMPMLVVEEGLVPFAS	4.0	7.0	-	-	4171_7:6561098-6561098 G>A_VVSMLQGSGAMPMLVVEEGLVPFAS
5:140737160-140737160 T>G	0.0	4171	RECTAL	-	-	-	-	PCDHGA4	NM_032053,p.L829R|uc003ljp.1,p.L798R	protein_coding	uc003ljp.1	nonsynonymous SNV	exon1	c.T2393G	p.L798R	EKSEPLLITQDLLETKGDPNLQVSQ	EKSEPLLITQDLRETKGDPNLQVSQ	1.0	3.0	-	-	4171_5:140737160-140737160 T>G_EKSEPLLITQDLRETKGDPNLQVSQ
3:195509840-195509840 A>G	0.0	4171	RECTAL	-	-	-	2	MUC4	ENST00000475231,p.S2871P|uc021xjp.1,p.S2871P|ENST00000477756,p.S2871P|ENST00000466475,p.S2871P|ENST00000480843,p.S2871P|ENST00000479406,p.S2871P|ENST00000477086,p.S2871P|NM_018406,p.S2871P|ENST00000478156,p.S2871P|ENST00000463781,p.S2871P|ENST00000470451,p.S2871P|ENST00000462323,p.S2871P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.T8611C	p.S2871P	TGHATSLPVTDASSVSTGHATPLPV	TGHATSLPVTDAPSVSTGHATPLPV	3.0	3.0	unscreened	-	4171_3:195509840-195509840 A>G_TGHATSLPVTDAPSVSTGHATPLPV
3:195509209-195509209 G>A	0.0	4171	RECTAL	-	-	-	2	MUC4	ENST00000462323,p.A3081V|ENST00000480843,p.A3081V|ENST00000477756,p.A3081V|ENST00000478156,p.A3081V|ENST00000475231,p.A3081V|NM_018406,p.A3081V|ENST00000463781,p.A3081V|ENST00000466475,p.A3081V|ENST00000479406,p.A3081V|uc021xjp.1,p.A3081V|ENST00000470451,p.A3081V|ENST00000477086,p.A3081V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C9242T	p.A3081V	HATPLPVTDTSSASTGHATPLPVTS	HATPLPVTDTSSVSTGHATPLPVTS	3.0	3.0	unscreened	-	4171_3:195509209-195509209 G>A_HATPLPVTDTSSVSTGHATPLPVTS
5:140737160-140737160 T>G	0.0	4171	RECTAL	-	-	-	-	PCDHGA4	uc003ljq.2,p.L798R|NM_018917,p.L829R|ENST00000571252,p.L798R	protein_coding	uc003ljq.2	nonsynonymous SNV	exon1	c.T2393G	p.L798R	EKSEPLLITQDLLETKGDPNLQQAP	EKSEPLLITQDLRETKGDPNLQQAP	1.0	3.0	-	-	4171_5:140737160-140737160 T>G_EKSEPLLITQDLRETKGDPNLQQAP
6:28213631-28213631 C>T	0.0	4171	RECTAL	-	-	-	-	ZKSCAN4	ENST00000377294,p.G301S|ENST00000423974,p.G146S|uc003nks.1,p.G301S|uc011dlb.1,p.G146S|NM_019110,p.G301S	protein_coding	uc011dlb.1	nonsynonymous SNV	exon5	c.G436A	p.G146S	EDIAQIPTHAEAGEQEGRLQRKQKN	EDIAQIPTHAEASEQEGRLQRKQKN	6.0	3.0	-	-	4171_6:28213631-28213631 C>T_EDIAQIPTHAEASEQEGRLQRKQKN
20:31643298-31643298 G>T	0.0	4171	RECTAL	-	-	-	-	BPIFB3	uc002wym.1,p.E23D|ENST00000375494,p.E23D|NM_182658,p.E23D	protein_coding	uc002wym.1	nonsynonymous SNV	exon1	c.G69T	p.E23D	LLLLWGLATPCQELLETVGTLARID	LLLLWGLATPCQDLLETVGTLARID	1.0	4.0	-	-	4171_20:31643298-31643298 G>T_LLLLWGLATPCQDLLETVGTLARID
X:150770031-150770031 G>T	0.0	4171	RECTAL	-	-	-	-	PASD1	NM_173493,p.K2N|ENST00000370357,p.K2N|uc004fev.4,p.K2N	retained_intron, protein_coding	uc004fev.4	nonsynonymous SNV	exon2	c.G6T	p.K2N	MKMRGEKRRDKVNP	MNMRGEKRRDKVNP	1.0	3.0	-	-	4171_X:150770031-150770031 G>T_MNMRGEKRRDKVNP
5:140474594-140474594 A>C	0.0	4171	RECTAL	-	-	-	-	PCDHB2	NM_018936,p.K74Q|ENST00000194155,p.K74Q|uc003lil.3,p.K74Q	protein_coding	uc003lil.3	nonsynonymous SNV	exon1	c.A220C	p.K74Q	AVRGARVVSKGKKMHLQFDRQTGDL	AVRGARVVSKGKQMHLQFDRQTGDL	2.0	5.0	-	-	4171_5:140474594-140474594 A>C_AVRGARVVSKGKQMHLQFDRQTGDL
3:195515102-195515102 G>C	0.0	4171	RECTAL	-	-	-	2	MUC4	ENST00000479406,p.H1117D|ENST00000463781,p.H1117D|ENST00000466475,p.H1117D|uc021xjp.1,p.H1117D|ENST00000477086,p.H1117D|ENST00000478156,p.H1117D|ENST00000470451,p.H1117D|ENST00000475231,p.H1117D|ENST00000462323,p.H1117D|ENST00000480843,p.H1117D|ENST00000477756,p.H1117D|NM_018406,p.H1117D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C3349G	p.H1117D	LPVTDTSSVSTGHTTPLPVTDTSSA	LPVTDTSSVSTGDTTPLPVTDTSSA	3.0	4.0	unscreened	-	4171_3:195515102-195515102 G>C_LPVTDTSSVSTGDTTPLPVTDTSSA
20:62851192-62851192 G>A	0.0	4171	RECTAL	-	-	-	-	MYT1	uc002yii.3,p.A700T|ENST00000328439,p.A700T|ENST00000360149,p.A402T|ENST00000536311,p.A727T|uc002yih.3,p.A402T|uc002yij.3,p.A359T|NM_004535,p.A700T	protein_coding	uc002yij.3	nonsynonymous SNV	exon7	c.G1075A	p.A359T	SCSSSPGVKSPDASQRHSSTSAPSS	SCSSSPGVKSPDTSQRHSSTSAPSS	1.0	6.0	-	-	4171_20:62851192-62851192 G>A_SCSSSPGVKSPDTSQRHSSTSAPSS
19:58370422-58370422 T>-	1.0	4202	MELANOMA	-	-	-	-	ZNF587	uc002qqb.2,p.C171fs|NM_032828,p.C214fs|ENST00000423137,p.C213fs|uc002qqi.2,p.C171fs|uc021vco.1,p.C214fs|uc010yhk.2,p.C213fs|ENST00000339656,p.C214fs|uc002qql.3,p.C214fs|uc010yhh.2,p.C171fs|NM_001204817,p.C213fs|ENST00000419854,p.C171fs	protein_coding, processed_transcript	uc021vco.1	frameshift deletion	exon3	c.642delT	p.C214fs	GPPFQEGKTNYSCGKRTKAFSTKHS	GPPFQEGKTNYSWENAQKPSAPNTQLFHTRNFSLEMDVMCAVIVENPLADMSASVIISEITLQKDLMIVESVGNLIVERAALFNISESTLDRQLIPVRSAGNLLVRRAALLAISLFTLEKGLMSVENVGNLLVKRVTSFNISKVTLERELITVGNVGNLFVRSSALLTISVFTLEKGLTSVENVGNLLVKRATSFTISEVILEKGPMSARNVGNHLGTDPTSLNTRDFTLGKDLTIVGNVGNYLTGSIIFWFMREFTLEKGHMRVRYVGNYLAISTA	7.0	3.0	unscreened	-	4202_19:58370422-58370422 T>-_GPPFQEGKTNYSWENAQKPSAPNTQLFHTRNFSLEMDVMCAVIVENPLADMSASVIISEITLQKDLMIVESVGNLIVERAALFNISESTLDRQLIPVRSAGNLLVRRAALLAISLFTLEKGLMSVENVGNLLVKRVTSFNISKVTLERELITVGNVGNLFVRSSALLTISVFTLEKGLTSVENVGNLLVKRATSFTISEVILEKGPMSARNVGNHLGTDPTSLNTRDFTLGKDLTIVGNVGNYLTGSIIFWFMREFTLEKGHMRVRYVGNYLAISTA
7:635812-635812 C>T	1.0	4202	MELANOMA	-	-	-	-	PRKAR1B	uc021zyj.1,p.D227N|ENST00000537384,p.D227N|ENST00000360274,p.D227N|ENST00000403562,p.D227N|uc021zyi.1,p.D227N|NM_001164760,p.D227N|NM_001164761,p.D227N|NM_001164758,p.D227N|uc003siv.3,p.D227N|ENST00000544935,p.D227N|ENST00000406797,p.D227N|uc003siw.2,p.D227N|uc003siu.2,p.D227N|NM_002735,p.D227N|NM_001164759,p.D227N|uc031swi.1,p.D172N|uc021zyk.1,p.D227N|NM_001164762,p.D227N|ENST00000430040,p.D227N	protein_coding, processed_transcript	uc031swi.1	nonsynonymous SNV	exon6	c.G514A	p.D172N	VKAKTDLKLWGIDRDSYRRILMGST	VKAKTDLKLWGINRDSYRRILMGST	9.0	10.0	-	-	4202_7:635812-635812 C>T_VKAKTDLKLWGINRDSYRRILMGST
3:93615439-93615439 G>A	1.0	4202	MELANOMA	-	-	ID=COSM731445;OCCURENCE=1(lung),1(skin)	-	PROS1	uc010hoo.3,p.R185C|uc003dqz.4,p.R185C|uc003drb.4,p.R316C|ENST00000394236,p.R316C|ENST00000407433,p.R185C|NM_000313,p.R316C	retained_intron, protein_coding	uc010hoo.3	nonsynonymous SNV	exon8	c.C553T	p.R185C	EQFAGVVLYLKFRLPEISRFSAEFD	EQFAGVVLYLKFCLPEISRFSAEFD	10.0	6.0	-	-	4202_3:93615439-93615439 G>A_EQFAGVVLYLKFCLPEISRFSAEFD
15:25585326-25585327 AG>-	1.0	4202	MELANOMA	-	-	-	-	UBE3A	uc001zat.3,p.L781fs|uc001zaq.3,p.L804fs|NM_130838,p.L781fs|ENST00000232165,p.L801fs|uc001zas.3,p.L801fs|uc001zar.3,p.L781fs|NM_130839,p.L801fs|NM_000462,p.L804fs|ENST00000438097,p.L781fs|ENST00000397954,p.L804fs|ENST00000566215,p.L781fs|ENST00000428984,p.L781fs	protein_coding	uc001zat.3	frameshift deletion	exon14	c.2343_2344del	p.L781fs	EIVHSFTDEQKRLFLQFTTGTDRAP	EIVHSFTDEQKRLLAVYNGHRQSTCGRTRKIKDDYSQKWPRHRKVTYISYLL	9.0	3.0	unscreened	-	4202_15:25585326-25585327 AG>-_EIVHSFTDEQKRLLAVYNGHRQSTCGRTRKIKDDYSQKWPRHRKVTYISYLL
1:100547637-100547637 C>T	1.0	4202	MELANOMA	-	-	-	-	HIAT1	uc001dst.3,p.P449S|NM_033055,p.P449S|ENST00000370152,p.P449S	protein_coding	uc001dst.3	nonsynonymous SNV	exon12	c.C1345T	p.P449S	SVLLALLVALFIPEHTNLSLRSSSW	SVLLALLVALFISEHTNLSLRSSSW	8.0	5.0	-	-	4202_1:100547637-100547637 C>T_SVLLALLVALFISEHTNLSLRSSSW
2:109400236-109400236 A>G	1.0	4202	MELANOMA	-	-	-	1	RANBP2	ENST00000283195,p.K3185R|NM_006267,p.K3185R|uc002tem.4,p.K3185R	retained_intron, protein_coding, nonsense_mediated_decay	uc002tem.4	nonsynonymous SNV	exon29	c.A9554G	p.K3185R	VITLKKAEHLDFKHVVFGFVKDGMD	VITLKKAEHLDFRHVVFGFVKDGMD	8.0	7.0	CD8	-	4202_2:109400236-109400236 A>G_VITLKKAEHLDFRHVVFGFVKDGMD
16:28877702-28877702 G>A	1.0	4202	MELANOMA	-	-	-	-	SH2B1	uc002drl.3,p.S96N|NM_001145797,p.S96N|ENST00000395532,p.S96N|NM_001145795,p.S96N|uc010vde.2,p.S96N|uc002drj.3,p.S96N|ENST00000337120,p.S96N|NM_001145812,p.S96N|NM_015503,p.S96N|ENST00000322610,p.S96N|NM_001145796,p.S96N|uc002drm.3,p.S96N|ENST00000359285,p.S96N|uc002drk.3,p.S96N|uc002dri.3,p.S96N	retained_intron, protein_coding, processed_transcript	uc010vde.2	nonsynonymous SNV	exon2	c.G287A	p.S96N	SGSLSPPILAPLSPGAEISPHDLSL	SGSLSPPILAPLNPGAEISPHDLSL	9.0	1.0	-	-	4202_16:28877702-28877702 G>A_SGSLSPPILAPLNPGAEISPHDLSL
3:37366083-37366083 A>-	1.0	4202	MELANOMA	-	-	-	-	GOLGA4	NM_001172713,p.T924fs|uc010hgr.2,p.T463fs|uc003cgx.3,p.T783fs|ENST00000361924,p.T902fs|NM_002078,p.T902fs|uc003cgw.3,p.T924fs|ENST00000429018,p.T463fs|ENST00000437131,p.T773fs|ENST00000356847,p.T924fs|uc003cgv.3,p.T902fs	retained_intron, protein_coding, processed_transcript	uc010hgr.2	frameshift deletion	exon5	c.1389delA	p.T463fs	SKLEDGNKEQEQTKQILVEKENMIL	SKLEDGNKEQEQTSKSWWKRKI	9.0	9.0	unscreened	-	4202_3:37366083-37366083 A>-_SKLEDGNKEQEQTSKSWWKRKI
1:19504035-19504035 G>A	0.0	4202	MELANOMA	-	-	-	-	UBR4	NM_020765,p.L853F|ENST00000375267,p.L853F|ENST00000375226,p.L853F|ENST00000375254,p.L853F|uc001bbm.1,p.L64F|ENST00000375217,p.L853F|uc001bbi.3,p.L853F	protein_coding, processed_transcript	uc001bbm.1	nonsynonymous SNV	exon2	c.C190T	p.L64F	SVNMDAQMRFVPLILARLLLIFDYL	SVNMDAQMRFVPFILARLLLIFDYL	10.0	4.0	-	-	4202_1:19504035-19504035 G>A_SVNMDAQMRFVPFILARLLLIFDYL
5:37169059-37169059 G>A	1.0	4202	MELANOMA	-	-	-	-	C5orf42	ENST00000508244,p.S2356F|ENST00000425232,p.S2356F|uc011coy.1,p.S856F|uc003jkr.1,p.S389F|uc011coz.1,p.S1431F|ENST00000509849,p.S1360F|uc011cpa.1,p.S2356F|NM_023073,p.S2356F|ENST00000274258,p.S1236F|ENST00000514429,p.S1404F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cpa.1	nonsynonymous SNV	exon34	c.C7067T	p.S2356F	VKPGTLEISPHHSFGLPLLYLPLKP	VKPGTLEISPHHFFGLPLLYLPLKP	7.0	7.0	-	-	4202_5:37169059-37169059 G>A_VKPGTLEISPHHFFGLPLLYLPLKP
X:135098810-135098810 G>A	1.0	4202	MELANOMA	-	-	-	-	SLC9A6	ENST00000370695,p.E415K|uc004ezk.3,p.E415K|NM_001177651,p.E363K|uc011mvx.2,p.E363K|ENST00000370698,p.E383K|NM_006359,p.E383K|NM_001042537,p.E415K|ENST00000370701,p.E363K|uc004ezj.3,p.E383K	protein_coding	uc011mvx.2	nonsynonymous SNV	exon11	c.G1087A	p.E363K	STESQHRTKQLFELLNFLAENFIFS	STESQHRTKQLFKLLNFLAENFIFS	6.0	10.0	-	-	4202_X:135098810-135098810 G>A_STESQHRTKQLFKLLNFLAENFIFS
7:122081619-122081619 G>A	1.0	4202	MELANOMA	-	-	-	-	CADPS2	ENST00000313070,p.P764S|ENST00000334010,p.P768S|NM_001009571,p.P764S|uc003vkg.4,p.P464S|uc022akr.1,p.P767S|NM_001167940,p.P767S|uc010lkq.3,p.P764S|ENST00000449022,p.P767S|ENST00000412584,p.P764S|NM_017954,p.P767S	protein_coding, processed_transcript	uc022akr.1	nonsynonymous SNV	exon16	c.C2299T	p.P767S	LENQISHFRYCFPFGRPEGALKATL	LENQISHFRYCFSFGRPEGALKATL	8.0	10.0	-	-	4202_7:122081619-122081619 G>A_LENQISHFRYCFSFGRPEGALKATL
6:31498610-31498610 G>A	1.0	4202	MELANOMA	-	-	-	-	DDX39B	NM_080598,p.R406C|ENST00000458640,p.R406C|uc003ntv.3,p.R406C|ENST00000417556,p.R421C|uc003ntr.3,p.R213C|ENST00000396172,p.R406C|uc003ntt.3,p.R406C|ENST00000415382,p.R328C|NM_004640,p.R406C|uc011dnn.2,p.R328C|uc003ntu.3,p.R406C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dnn.2	nonsynonymous SNV	exon8	c.C982T	p.R328C	ENDAKILNDVQDRFEVNISELPDEI	ENDAKILNDVQDCFEVNISELPDEI	10.0	9.0	-	-	4202_6:31498610-31498610 G>A_ENDAKILNDVQDCFEVNISELPDEI
X:133921530-133921530 G>A	1.0	4202	MELANOMA	-	-	-	-	FAM122B	uc004exr.3,p.P138S|NM_001170756,p.P157S|uc004exq.3,p.P157S|NM_001166600,p.P157S|NM_001166599,p.P138S|ENST00000298090,p.P157S|ENST00000370790,p.P138S|ENST00000343004,p.P157S|uc004exv.3,p.P157S	protein_coding, processed_transcript	uc004exv.3	nonsynonymous SNV	exon8	c.C469T	p.P157S	KMFVSSSGLPPSPVPSPRRFSRRSQ	KMFVSSSGLPPSSVPSPRRFSRRSQ	6.0	10.0	-	-	4202_X:133921530-133921530 G>A_KMFVSSSGLPPSSVPSPRRFSRRSQ
11:67430834-67430834 G>A	1.0	4202	MELANOMA	-	-	-	-	ALDH3B2	uc001omr.3,p.T337I|NM_000695,p.T337I|uc001oms.3,p.T337I|ENST00000349015,p.T337I|ENST00000530069,p.T337I|NM_001031615,p.T337I	retained_intron, protein_coding, processed_transcript	uc001oms.3	nonsynonymous SNV	exon10	c.C1010T	p.T337I	GHSGMGRYHGKFTFDTFSHHRTCLL	GHSGMGRYHGKFIFDTFSHHRTCLL	5.0	4.0	-	-	4202_11:67430834-67430834 G>A_GHSGMGRYHGKFIFDTFSHHRTCLL
9:139277742-139277742 G>T	1.0	4202	MELANOMA	-	-	-	-	SNAPC4	ENST00000298532,p.P627T|uc004chh.3,p.P627T|NM_003086,p.P627T	protein_coding	uc004chh.3	nonsynonymous SNV	exon15	c.C1879A	p.P627T	STTAAAPGEETSPVQVPARAHGPVP	STTAAAPGEETSTVQVPARAHGPVP	7.0	3.0	-	-	4202_9:139277742-139277742 G>T_STTAAAPGEETSTVQVPARAHGPVP
16:67701386-67701386 C>T	1.0	4202	MELANOMA	-	-	-	-	C16orf86	NM_001012984,p.S97F|ENST00000403458,p.S97F|ENST00000602365,p.S97F|uc002ety.3,p.S97F	retained_intron, protein_coding, nonsense_mediated_decay	uc002ety.3	nonsynonymous SNV	exon2	c.C290T	p.S97F	GALEERGPRPVVSIVRPRHGPKRKP	GALEERGPRPVVFIVRPRHGPKRKP	6.0	6.0	-	-	4202_16:67701386-67701386 C>T_GALEERGPRPVVFIVRPRHGPKRKP
5:150029621-150029621 C>T	1.0	4202	MELANOMA	-	-	-	-	SYNPO	NM_001109974,p.S595F|NM_001166208,p.S839F|NM_007286,p.S595F|ENST00000394243,p.S839F|uc003lsp.3,p.S595F|NM_001166209,p.S839F|ENST00000307662,p.S595F|ENST00000519664,p.S595F|uc021yfv.1,p.S595F|uc021yfu.1,p.S839F|ENST00000522122,p.S839F|uc003lso.4,p.S595F|uc003lsn.3,p.S839F	protein_coding, processed_transcript	uc021yfv.1	nonsynonymous SNV	exon1	c.C1784T	p.S595F	VSPRAASPAKPSSLDLVPNLPKGAL	VSPRAASPAKPSFLDLVPNLPKGAL	6.0	8.0	-	-	4202_5:150029621-150029621 C>T_VSPRAASPAKPSFLDLVPNLPKGAL
21:47581541-47581541 C>T	1.0	4202	MELANOMA	-	-	-	-	SPATC1L	uc011afu.2,p.A259T|ENST00000330205,p.A105T|NM_001142854,p.A259T|uc002zii.3,p.A105T|ENST00000291672,p.A259T|NM_032261,p.A105T	protein_coding	uc011afu.2	nonsynonymous SNV	exon5	c.G775A	p.A259T	LRELTQRYLALSARLEKLGYSRDVH	LRELTQRYLALSTRLEKLGYSRDVH	8.0	8.0	-	-	4202_21:47581541-47581541 C>T_LRELTQRYLALSTRLEKLGYSRDVH
7:138874114-138874114 C>T	1.0	4202	MELANOMA	-	-	-	-	TTC26	ENST00000343187,p.T503I|uc003vus.2,p.T534I|NM_024926,p.T534I|NM_001144923,p.T503I|uc003vut.2,p.T394I|ENST00000464848,p.T534I|uc011kqo.1,p.T503I|uc011kqq.1,p.T403I|NM_001287513,p.T429I|NM_001287512,p.T403I|uc011kqp.1,p.T429I|ENST00000495038,p.T403I|ENST00000478836,p.T427I	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kqq.1	nonsynonymous SNV	exon15	c.C1208T	p.T403I	REVLHLLRSTGNTQVEYMIRIMKKW	REVLHLLRSTGNIQVEYMIRIMKKW	6.0	10.0	-	-	4202_7:138874114-138874114 C>T_REVLHLLRSTGNIQVEYMIRIMKKW
17:48165114-48165127 GTGGACATTGACTC>-	1.0	4202	MELANOMA	-	-	-	-	ITGA3	uc010dbl.3,p.V976fs|NM_002204,p.V976fs|ENST00000320031,p.V976fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010dbl.3	frameshift deletion	exon24	c.2926_2939del	p.V976fs	TINMENKTTWFSVDIDSELVEELPA	TINMENKTTWFSGAGGGAAGRNRAVAGAGGRGCRAAAAGADHPPAVEVRLLQASPHSRPV	10.0	2.0	unscreened	-	4202_17:48165114-48165127 GTGGACATTGACTC>-_TINMENKTTWFSGAGGGAAGRNRAVAGAGGRGCRAAAAGADHPPAVEVRLLQASPHSRPV
2:231222629-231222629 C>T	1.0	4202	MELANOMA	-	-	-	-	SP140L	ENST00000243810,p.P73S|ENST00000415673,p.P73S|uc010fxm.1,p.P73S|ENST00000444636,p.P73S|ENST00000396563,p.P73S|NM_138402,p.P73S	retained_intron, protein_coding	uc010fxm.1	nonsynonymous SNV	exon3	c.C217T	p.P73S	KLEISNAIKKTFPFLEGLRDRELIT	KLEISNAIKKTFSFLEGLRDRELIT	6.0	9.0	-	-	4202_2:231222629-231222629 C>T_KLEISNAIKKTFSFLEGLRDRELIT
3:39184587-39184587 C>T	1.0	4202	MELANOMA	-	-	-	-	CSRNP1	uc003cjg.3,p.D577N|NM_033027,p.D577N|ENST00000273153,p.D577N|ENST00000514182,p.D577N|uc003cjh.3,p.D577N	protein_coding	uc003cjh.3	nonsynonymous SNV	exon5	c.G1729A	p.D577N	EALDPFIDSQFEDTVPASLMEPVPV	EALDPFIDSQFENTVPASLMEPVPV	6.0	5.0	-	-	4202_3:39184587-39184587 C>T_EALDPFIDSQFENTVPASLMEPVPV
11:64674738-64674738 A>G	0.0	4202	MELANOMA	-	-	-	-	ATG2A	uc001obx.3,p.C941R|ENST00000421419,p.C941R|NM_015104,p.C941R|ENST00000377264,p.C941R	retained_intron, protein_coding	uc001obx.3	nonsynonymous SNV	exon19	c.T2821C	p.C941R	LVTVLKGRITALCETKDEGGKRLEA	LVTVLKGRITALRETKDEGGKRLEA	8.0	1.0	-	-	4202_11:64674738-64674738 A>G_LVTVLKGRITALRETKDEGGKRLEA
8:68007962-68007962 T>G	1.0	4202	MELANOMA	-	-	-	-	CSPP1	uc003xxg.1,p.N342K|ENST00000519668,p.N21K|NM_001291339,p.N21K|uc003xxk.3,p.N21K|ENST00000262210,p.N315K|NM_024790,p.N315K|uc003xxj.3,p.N315K|ENST00000412460,p.N21K|ENST00000519163,p.N314K|uc003xxi.3,p.N350K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003xxk.3	nonsynonymous SNV	exon4	c.T63G	p.N21K	SDFDRRLSRVYTNDRMHRNKRGNMP	SDFDRRLSRVYTKDRMHRNKRGNMP	8.0	5.0	-	-	4202_8:68007962-68007962 T>G_SDFDRRLSRVYTKDRMHRNKRGNMP
19:40030121-40030121 G>A	1.0	4202	MELANOMA	-	-	-	-	EID2	NM_153232,p.P200L|uc002oma.3,p.P200L|ENST00000390658,p.P200L	protein_coding	uc002oma.3	nonsynonymous SNV	exon1	c.C599T	p.P200L	REAAFDAEYQRNPHRVDLDILTFTI	REAAFDAEYQRNLHRVDLDILTFTI	7.0	7.0	-	-	4202_19:40030121-40030121 G>A_REAAFDAEYQRNLHRVDLDILTFTI
17:7578401-7578401 G>A	1.0	4202	MELANOMA	-	-	ID=COSM1559485,COSM10650,COSM1559484,COSM1559483,COSM1559486;OCCURENCE=2(central_nervous_system),2(upper_aerodigestive_tract),1(haematopoietic_and_lymphoid_tissue),2(skin),1(biliary_tract),2(prostate),1(urinary_tract)	1	TP53	ENST00000413465,p.P177S|ENST00000514944,p.P84S|uc002gin.3,p.P84S|uc002gii.2,p.P18S|uc010cng.2,p.P18S|ENST00000455263,p.P177S|ENST00000359597,p.P177S|ENST00000420246,p.P177S|NM_001276760,p.P138S|ENST00000445888,p.P177S|NM_000546,p.P177S|ENST00000269305,p.P177S|NM_001126118,p.P138S|NM_001276696,p.P138S|uc002gij.3,p.P138S|uc002gio.3,p.P45S|NM_001276698,p.P18S|NM_001126113,p.P177S|NM_001276761,p.P138S|ENST00000509690,p.P45S|uc010vug.3,p.P138S|uc010cnf.2,p.P18S|NM_001276695,p.P138S|uc031qyq.1,p.P138S|NM_001126117,p.P45S|NM_001126115,p.P45S|uc002gih.3,p.P177S|NM_001276697,p.P18S|NM_001126114,p.P177S|NM_001276699,p.P18S|uc002gig.1,p.P177S|NM_001126116,p.P45S|NM_001126112,p.P177S	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon4	c.C412T	p.P138S	QSQHMTEVVRRCPHHERCSDSDGLA	QSQHMTEVVRRCSHHERCSDSDGLA	10.0	9.0	-	-	4202_17:7578401-7578401 G>A_QSQHMTEVVRRCSHHERCSDSDGLA
2:55408823-55408823 A>C	0.0	4202	MELANOMA	-	-	-	-	CLHC1	ENST00000407122,p.F355C|NM_001135598,p.F233C|ENST00000406076,p.F233C|NM_152385,p.F355C|uc002ryj.2,p.F233C|ENST00000401408,p.F355C|uc002ryi.2,p.F355C	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ryj.2	nonsynonymous SNV	exon8	c.T698G	p.F233C	KPLPLLLFFEALFITSHAFPCPVDA	KPLPLLLFFEALCITSHAFPCPVDA	7.0	7.0	-	-	4202_2:55408823-55408823 A>C_KPLPLLLFFEALCITSHAFPCPVDA
6:30529673-30529675 CCT>-	1.0	4202	MELANOMA	-	-	-	-	PRR3	NM_025263,p.78_78del|ENST00000376560,p.78_78del|uc003nqj.2,p.57_57del|NM_001077497,p.57_57del|ENST00000376557,p.57_57del|uc003nqi.2,p.78_78del	retained_intron, protein_coding, processed_transcript	uc003nqj.2	nonframeshift deletion	exon2	c.169_171del	p.57_57del	RGPLIPPLLSLPPPPWGRGPIRRGL	RGPLIPPLLSLPPPWGRGPIRRGLG	8.0	1.0	unscreened	-	4202_6:30529673-30529675 CCT>-_RGPLIPPLLSLPPPWGRGPIRRGLG
9:139277741-139277741 G>A	1.0	4202	MELANOMA	-	-	-	-	SNAPC4	uc004chh.3,p.P627L|ENST00000298532,p.P627L|NM_003086,p.P627L	protein_coding	uc004chh.3	nonsynonymous SNV	exon15	c.C1880T	p.P627L	STTAAAPGEETSPVQVPARAHGPVP	STTAAAPGEETSLVQVPARAHGPVP	7.0	3.0	-	-	4202_9:139277741-139277741 G>A_STTAAAPGEETSLVQVPARAHGPVP
1:117487307-117487307 C>T	1.0	4202	MELANOMA	-	-	-	-	PTGFRN	ENST00000393203,p.A142V|NM_020440,p.A142V|uc001egv.1,p.A142V	protein_coding, processed_transcript	uc001egv.1	nonsynonymous SNV	exon3	c.C425T	p.A142V	GNYEDTVQVKVLADSLHVGPSARPP	GNYEDTVQVKVLVDSLHVGPSARPP	8.0	8.0	-	-	4202_1:117487307-117487307 C>T_GNYEDTVQVKVLVDSLHVGPSARPP
10:38241891-38241891 A>G	1.0	4202	MELANOMA	-	-	-	-	ZNF25	NM_145011,p.C179R|uc001ize.1,p.C179R|ENST00000302609,p.C179R|uc001izf.1,p.C143R	protein_coding, processed_transcript	uc001izf.1	nonsynonymous SNV	exon7	c.T427C	p.C143R	IHTRDKTYECKECKKIFYHLSSLSR	IHTRDKTYECKERKKIFYHLSSLSR	7.0	4.0	-	-	4202_10:38241891-38241891 A>G_IHTRDKTYECKERKKIFYHLSSLSR
6:26468619-26468619 C>T	1.0	4202	MELANOMA	-	-	-	-	BTN2A1	NM_007049,p.P476S|NM_001197233,p.P415S|uc011dko.2,p.P415S|uc003nib.2,p.P476S|ENST00000312541,p.P476S|ENST00000541522,p.P415S	protein_coding, nonsense_mediated_decay	uc011dko.2	nonsynonymous SNV	exon7	c.C1243T	p.P415S	YNMRDRSHIYTCPRSAFSVPVRPFF	YNMRDRSHIYTCSRSAFSVPVRPFF	8.0	8.0	-	-	4202_6:26468619-26468619 C>T_YNMRDRSHIYTCSRSAFSVPVRPFF
7:87168597-87168597 G>A	0.0	4202	MELANOMA	-	-	-	-	ABCB1	uc003uiz.2,p.S795F|ENST00000543898,p.S731F|uc011khc.2,p.S731F|ENST00000265724,p.S795F|NM_000927,p.S795F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011khc.2	nonsynonymous SNV	exon17	c.C2192T	p.S731F	ILTKRLRYMVFRSMLRQDVSWFDDP	ILTKRLRYMVFRFMLRQDVSWFDDP	5.0	2.0	-	-	4202_7:87168597-87168597 G>A_ILTKRLRYMVFRFMLRQDVSWFDDP
7:99227197-99227197 C>T	1.0	4202	MELANOMA	-	-	-	-	ZSCAN25	uc003urm.1,p.H233Y|uc010lgf.1,p.H325Y|uc003uro.1,p.H181Y|NM_145115,p.H397Y|ENST00000334715,p.H397Y|ENST00000394152,p.H397Y|ENST00000262941,p.H325Y|uc003url.1,p.H397Y|uc010lge.1,p.H233Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lgf.1	nonsynonymous SNV	exon3	c.C973T	p.H325Y	TLREYLMKHQRTHLGKRPYVCSECW	TLREYLMKHQRTYLGKRPYVCSECW	7.0	10.0	-	-	4202_7:99227197-99227197 C>T_TLREYLMKHQRTYLGKRPYVCSECW
9:127733651-127733651 G>A	0.0	4202	MELANOMA	-	-	-	-	SCAI	ENST00000336505,p.R558W|uc004bpe.3,p.R558W|NM_001144877,p.R558W|NM_173690,p.R581W|uc004bpd.3,p.R581W|ENST00000373549,p.R581W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004bpe.3	nonsynonymous SNV	exon17	c.C1672T	p.R558W	FCSATMRMHKIFRETRNYPESYPQL	FCSATMRMHKIFWETRNYPESYPQL	6.0	9.0	-	-	4202_9:127733651-127733651 G>A_FCSATMRMHKIFWETRNYPESYPQL
8:38809790-38809790 C>T	1.0	4202	MELANOMA	-	-	-	-	PLEKHA2	uc003xmi.4,p.P198L|uc011lce.2,p.P148L|ENST00000521746,p.P198L|ENST00000420274,p.P198L|NM_021623,p.P198L	retained_intron, protein_coding, processed_transcript	uc011lce.2	nonsynonymous SNV	exon6	c.C443T	p.P148L	IPTSGCRASTGPPLIKSGYCVKQGN	IPTSGCRASTGPLLIKSGYCVKQGN	9.0	5.0	-	-	4202_8:38809790-38809790 C>T_IPTSGCRASTGPLLIKSGYCVKQGN
7:64439497-64439497 G>A	1.0	4202	MELANOMA	-	-	-	-	ZNF117	NM_015852,p.T151I|ENST00000282869,p.T151I|uc003ttr.2,p.T151I	retained_intron, protein_coding	uc003ttr.2	nonsynonymous SNV	exon4	c.C452T	p.T151I	CEAYGRAFNWSSTLNKHKRIHTGEK	CEAYGRAFNWSSILNKHKRIHTGEK	6.0	2.0	-	-	4202_7:64439497-64439497 G>A_CEAYGRAFNWSSILNKHKRIHTGEK
5:65470782-65470782 G>T	1.0	4202	MELANOMA	-	-	-	-	SREK1	ENST00000334121,p.R498L|NM_139168,p.R382L|uc003jun.4,p.R498L|uc010iwy.4,p.R382L|ENST00000380918,p.R382L|NM_001270492,p.R382L|NM_001077199,p.R498L|uc003juo.4,p.R382L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iwy.4	nonsynonymous SNV	exon11	c.G1145T	p.R382L	ASRRSRSSSRERRRRRSRSSSRSPR	ASRRSRSSSRERLRRRSRSSSRSPR	10.0	10.0	-	-	4202_5:65470782-65470782 G>T_ASRRSRSSSRERLRRRSRSSSRSPR
1:151337071-151337071 G>A	1.0	4202	MELANOMA	-	-	-	-	SELENBP1	ENST00000368868,p.A456V|NM_001258288,p.A394V|ENST00000435071,p.A392V|NM_003944,p.A456V|NM_001258289,p.A498V|ENST00000447402,p.A394V|uc001eya.4,p.A392V|ENST00000426705,p.A498V|uc010pcz.3,p.A394V|uc010pcy.3,p.A498V|uc001exx.4,p.A456V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pcz.3	nonsynonymous SNV	exon11	c.C1181T	p.A394V	VDFGKEPLGPALAHELRYPGGDCSS	VDFGKEPLGPALVHELRYPGGDCSS	9.0	8.0	-	-	4202_1:151337071-151337071 G>A_VDFGKEPLGPALVHELRYPGGDCSS
16:8719613-8719613 C>T	0.0	4202	MELANOMA	-	-	-	-	METTL22	NM_024109,p.H31Y|ENST00000381920,p.H31Y|ENST00000567295,p.H31Y|ENST00000163678,p.H31Y|uc002cyz.3,p.H31Y|ENST00000561758,p.H31Y|ENST00000563958,p.H31Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cyz.3	nonsynonymous SNV	exon2	c.C91T	p.H31Y	TVLSDVHLYTPNHRHLMVRLNSVGQ	TVLSDVHLYTPNYRHLMVRLNSVGQ	8.0	7.0	-	-	4202_16:8719613-8719613 C>T_TVLSDVHLYTPNYRHLMVRLNSVGQ
11:64674737-64674737 C>-	0.0	4202	MELANOMA	-	-	-	-	ATG2A	NM_015104,p.C941fs|uc001obx.3,p.C941fs|ENST00000377264,p.C941fs|ENST00000421419,p.C941fs	retained_intron, protein_coding	uc001obx.3	frameshift deletion	exon19	c.2822delG	p.C941fs	LVTVLKGRITALCETKDEGGKRLEA	LVTVLKGRITALLRPRMRVGSGWRLCTGSWCWTWSTVPSSASPSTVASQDLATSVWKLKRQHSTTERPWMTTRCPVTWTFPVSLPRLSWPQPSTHRRKG	8.0	1.0	unscreened	-	4202_11:64674737-64674737 C>-_LVTVLKGRITALLRPRMRVGSGWRLCTGSWCWTWSTVPSSASPSTVASQDLATSVWKLKRQHSTTERPWMTTRCPVTWTFPVSLPRLSWPQPSTHRRKG
12:97038002-97038002 G>A	0.0	4202	MELANOMA	-	-	-	-	CDK17,NEDD1	uc001tes.3,p.D129N	retained_intron, protein_coding, processed_transcript	uc001tes.3	nonsynonymous SNV	exon6	c.G385A	p.D129N	TSVRKAAQRYLMDYLNPLILSYVKR	TSVRKAAQRYLMNYLNPLILSYVKR	5.0	4.0	-	-	4202_12:97038002-97038002 G>A_TSVRKAAQRYLMNYLNPLILSYVKR
2:110936123-110936123 G>A	1.0	4202	MELANOMA	-	-	-	-	NPHP1	ENST00000445609,p.A69V|uc002tfl.4,p.A69V|uc010ywx.2,p.A69V|ENST00000393272,p.A69V|ENST00000316534,p.A69V|NM_000272,p.A69V|uc002tfn.4,p.A69V|uc010fjv.1,p.A69V|uc002tfm.4,p.A69V|NM_001128178,p.A69V|NM_207181,p.A69V|ENST00000417665,p.A69V|ENST00000418527,p.A69V|uc021vme.1,p.A69V	retained_intron, protein_coding, nonsense_mediated_decay	uc021vme.1	nonsynonymous SNV	exon4	c.C206T	p.A69V	DENKNALQKLSKADESAPVANYNQR	DENKNALQKLSKVDESAPVANYNQR	7.0	7.0	-	-	4202_2:110936123-110936123 G>A_DENKNALQKLSKVDESAPVANYNQR
2:37505111-37505113 AAT>-	1.0	4202	MELANOMA	-	-	-	-	PRKD3	ENST00000379066,p.398_398del|uc002rqf.1,p.398_398del|uc002rqd.3,p.398_398del|NM_005813,p.398_398del|ENST00000234179,p.398_398del	retained_intron, protein_coding, processed_transcript	uc002rqf.1	nonframeshift deletion	exon8	c.1192_1194del	p.398_398del	AVKTISPSTSNNIPLMRVVQSIKHT	AVKTISPSTSNNPLMRVVQSIKHTK	10.0	4.0	unscreened	-	4202_2:37505111-37505113 AAT>-_AVKTISPSTSNNPLMRVVQSIKHTK
2:163070503-163070503 G>A	0.0	4202	MELANOMA	-	-	ID=COSM1008362;OCCURENCE=1(skin),1(endometrium)	-	FAP	NM_001291807,p.S291L|ENST00000443424,p.S291L|uc002ucd.3,p.S316L|uc010fpe.1,p.S283L|ENST00000188790,p.S316L|NM_004460,p.S316L|uc010zct.2,p.S291L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zct.2	nonsynonymous SNV	exon10	c.C872T	p.S291L	VCLQWLKRVQNVSVLSICDFREDWQ	VCLQWLKRVQNVLVLSICDFREDWQ	7.0	9.0	-	-	4202_2:163070503-163070503 G>A_VCLQWLKRVQNVLVLSICDFREDWQ
2:207621736-207621736 G>A	0.0	4202	MELANOMA	-	-	-	-	MDH1B	ENST00000374412,p.T100M|ENST00000436472,p.T100M|uc010fui.3,p.T100M|ENST00000432911,p.T100M|NM_001282940,p.T100M|ENST00000454776,p.T100M|ENST00000392214,p.T100M|NM_001039845,p.T100M|uc002vbs.3,p.T100M	retained_intron, protein_coding, nonsense_mediated_decay	uc010fui.3	nonsynonymous SNV	exon4	c.C299T	p.T100M	HAQLYYDVTSSMTTELMMVIAQENL	HAQLYYDVTSSMMTELMMVIAQENL	5.0	2.0	unscreened	-	4202_2:207621736-207621736 G>A_HAQLYYDVTSSMMTELMMVIAQENL
19:43698596-43698596 G>A	1.0	4202	MELANOMA	-	-	-	-	PSG4	uc002owb.4,p.S287F|NM_001276495,p.S287F|ENST00000596907,p.S258F|ENST00000405312,p.S380F|ENST00000244295,p.S287F|NM_213633,p.S287F|ENST00000433626,p.S287F|uc002ovy.4,p.S380F|uc002ovz.4,p.S287F|NM_002780,p.S380F|ENST00000599391,p.S165F	retained_intron, protein_coding, nonsense_mediated_decay	uc002owb.4	nonsynonymous SNV	exon4	c.C860T	p.S287F	INGKFQLSGQKLSIPQITTKHSGLY	INGKFQLSGQKLFIPQITTKHSGLY	9.0	9.0	-	-	4202_19:43698596-43698596 G>A_INGKFQLSGQKLFIPQITTKHSGLY
9:19119738-19119738 G>A	0.0	4202	MELANOMA	-	-	-	-	PLIN2	uc011lnb.2,p.P186L	protein_coding, processed_transcript	uc011lnb.2	nonsynonymous SNV	exon6	c.C557T	p.P186L	MLDWDPCLPSFTPVPTSRLSAGLKK	MLDWDPCLPSFTLVPTSRLSAGLKK	7.0	7.0	-	-	4202_9:19119738-19119738 G>A_MLDWDPCLPSFTLVPTSRLSAGLKK
7:72719018-72719018 C>A	1.0	4202	MELANOMA	-	-	-	-	NSUN5	uc003txw.3,p.A193S|uc003txx.3,p.A155S|ENST00000428206,p.A155S|ENST00000252594,p.A193S|ENST00000438747,p.A193S|NM_001168347,p.A193S|uc003txv.3,p.A193S|NM_018044,p.A193S|NM_001168348,p.A155S|ENST00000310326,p.A193S|NM_148956,p.A193S|uc011kev.2,p.A193S	retained_intron, protein_coding, nonsense_mediated_decay	uc011kev.2	nonsynonymous SNV	exon5	c.G577T	p.A193S	LDPLMPELLVFPAQTDLHEHPLYRA	LDPLMPELLVFPSQTDLHEHPLYRA	9.0	1.0	-	-	4202_7:72719018-72719018 C>A_LDPLMPELLVFPSQTDLHEHPLYRA
6:99347230-99347232 AGG>-	1.0	4202	MELANOMA	-	-	-	-	FBXL4	NM_012160,p.410_411del|ENST00000369244,p.410_411del|NM_001278716,p.410_411del|uc003ppg.1,p.410_411del|ENST00000229971,p.410_411del|uc003ppf.1,p.410_411del	protein_coding	uc003ppg.1	nonframeshift deletion	exon7	c.1229_1231del	p.410_411del	EMCPNLQALNLSSCDKLPPQAFNHI	EMCPNLQALNLSCDKLPPQAFNHIA	7.0	10.0	unscreened	-	4202_6:99347230-99347232 AGG>-_EMCPNLQALNLSCDKLPPQAFNHIA
15:26828517-26828517 G>T	0.0	4202	MELANOMA	-	-	-	-	GABRB3	NM_001191321,p.P98H|uc021sgg.1,p.P98H|uc001zbb.3,p.P225H|uc001zba.3,p.P169H|ENST00000545868,p.P84H|uc021sgh.1,p.P84H|NM_001278631,p.P84H|ENST00000555094,p.P84H|ENST00000299267,p.P169H|NM_021912,p.P169H|uc001zaz.3,p.P169H|ENST00000311550,p.P169H|ENST00000541819,p.P225H|ENST00000400188,p.P98H|NM_000814,p.P169H|NM_001191320,p.P84H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc021sgh.1	nonsynonymous SNV	exon3	c.C251A	p.P84H	TTAACMMDLRRYPLDEQNCTLEIES	TTAACMMDLRRYHLDEQNCTLEIES	6.0	2.0	-	-	4202_15:26828517-26828517 G>T_TTAACMMDLRRYHLDEQNCTLEIES
6:34614561-34614561 G>A	1.0	4202	MELANOMA	-	-	-	-	C6orf106	uc003ojr.2,p.P110S|ENST00000374021,p.P36S|NM_024294,p.P110S|ENST00000374023,p.P110S	protein_coding	uc003ojr.2	nonsynonymous SNV	exon3	c.C328T	p.P110S	TWRIQNSGAEAWPPGVCLKYVGGDQ	TWRIQNSGAEAWSPGVCLKYVGGDQ	9.0	2.0	-	-	4202_6:34614561-34614561 G>A_TWRIQNSGAEAWSPGVCLKYVGGDQ
7:154876049-154876049 C>T	0.0	4202	MELANOMA	-	-	-	-	HTR5A	NM_024012,p.P309L|uc003wlu.2,p.P309L|ENST00000287907,p.P309L	protein_coding, processed_transcript	uc003wlu.2	nonsynonymous SNV	exon2	c.C926T	p.P309L	CWIPFFLTELISPLCSCDIPAIWKS	CWIPFFLTELISLLCSCDIPAIWKS	1.0	10.0	-	-	4202_7:154876049-154876049 C>T_CWIPFFLTELISLLCSCDIPAIWKS
11:123600500-123600500 A>G	0.0	4202	MELANOMA	-	-	-	-	ZNF202	NM_001301779,p.S146P|uc001pze.1,p.S146P|ENST00000530393,p.S146P|ENST00000529691,p.S146P|uc001pzd.1,p.S146P|NM_001301780,p.S146P|ENST00000336139,p.S146P|NM_003455,p.S146P|uc001pzf.1,p.S146P	protein_coding, processed_transcript	uc001pzf.1	nonsynonymous SNV	exon3	c.T436C	p.S146P	WVTVHVHGQEVLSEETVHLGVEPES	WVTVHVHGQEVLPEETVHLGVEPES	7.0	9.0	-	-	4202_11:123600500-123600500 A>G_WVTVHVHGQEVLPEETVHLGVEPES
7:143556204-143556204 C>T	0.0	4202	MELANOMA	-	-	-	-	FAM115A	uc003wdp.2,p.E740K|NM_001206938,p.E740K|uc003wdo.2,p.E740K|ENST00000355951,p.E740K|ENST00000479870,p.E740K|uc011ktu.2,p.E316K|NM_001206941,p.E316K|NM_014719,p.E740K	protein_coding, processed_transcript	uc011ktu.2	nonsynonymous SNV	exon6	c.G946A	p.E316K	GYPIMCHLESVQELINEKLIRTKGL	GYPIMCHLESVQKLINEKLIRTKGL	8.0	1.0	unscreened	-	4202_7:143556204-143556204 C>T_GYPIMCHLESVQKLINEKLIRTKGL
7:140453137-140453137 C>T	1.0	4202	MELANOMA	-	-	ID=COSM1130;OCCURENCE=5(stomach),1(central_nervous_system),8(prostate),3(large_intestine),7(skin),1(breast)	1	BRAF	uc003vwc.4,p.V600M|ENST00000288602,p.V600M|NM_004333,p.V600M|ENST00000479537,p.V28M	retained_intron, protein_coding, nonsense_mediated_decay	uc003vwc.4	nonsynonymous SNV	exon15	c.G1798A	p.V600M	LTVKIGDFGLATVKSRWSGSHQFEQ	LTVKIGDFGLATMKSRWSGSHQFEQ	7.0	10.0	-	-	4202_7:140453137-140453137 C>T_LTVKIGDFGLATMKSRWSGSHQFEQ
19:55143641-55143641 C>T	0.0	4202	MELANOMA	-	-	ID=COSM713656;OCCURENCE=1(lung)	-	LILRB1	ENST00000434867,p.P205L|NM_001081637,p.P205L|ENST00000324602,p.P205L|ENST00000421584,p.P205L|ENST00000396327,p.P205L|uc002qgm.3,p.P205L|NM_001081638,p.P205L|ENST00000396321,p.P205L|ENST00000396332,p.P205L|uc002qgl.3,p.P205L|ENST00000396317,p.P205L|ENST00000418536,p.P205L|NM_001278399,p.P205L|NM_001278398,p.P205L|NM_001081639,p.P205L|ENST00000448689,p.P205L|uc010erq.3,p.P205L|NM_006669,p.P205L|ENST00000396331,p.P205L|uc002qgj.3,p.P205L|ENST00000427581,p.P241L|uc002qgk.3,p.P205L|ENST00000396315,p.P205L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010erq.3	nonsynonymous SNV	exon4	c.C614T	p.P205L	WWYRCYAYDSNSPYEWSLPSDLLEL	WWYRCYAYDSNSLYEWSLPSDLLEL	5.0	8.0	-	-	4202_19:55143641-55143641 C>T_WWYRCYAYDSNSLYEWSLPSDLLEL
14:103433430-103433432 CTT>-	1.0	4202	MELANOMA	-	-	-	-	CDC42BPB	uc001ymi.1,p.808_808del|ENST00000361246,p.808_808del|NM_006035,p.808_808del	retained_intron, protein_coding	uc001ymi.1	nonframeshift deletion	exon17	c.2422_2424del	p.808_808del	QLEDELQDLAAKKESVAHWEAQIAE	QLEDELQDLAAKESVAHWEAQIAEI	9.0	2.0	unscreened	-	4202_14:103433430-103433432 CTT>-_QLEDELQDLAAKESVAHWEAQIAEI
1:203186902-203186902 C>T	0.0	4202	MELANOMA	-	-	-	-	CHIT1	ENST00000255427,p.R355Q|uc001gzo.3,p.R355Q|uc001gzn.2,p.R374Q|ENST00000367229,p.R374Q|NM_001256125,p.R355Q|NM_003465,p.R374Q|ENST00000535569,p.R365Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc001gzo.3	nonsynonymous SNV	exon9	c.G1064A	p.R355Q	LDDFAGFSCNQGRYPLIQTLRQELS	LDDFAGFSCNQGQYPLIQTLRQELS	10.0	9.0	-	-	4202_1:203186902-203186902 C>T_LDDFAGFSCNQGQYPLIQTLRQELS
1:203186902-203186902 C>T	0.0	4202	MELANOMA	-	-	-	-	CHIT1	NM_001270509,p.R329Q	protein_coding, processed_transcript, nonsense_mediated_decay	NM_001270509	nonsynonymous SNV	exon10	c.G986A	p.R329Q	GFDDVESFKTKGRYPLIQTLRQELS	GFDDVESFKTKGQYPLIQTLRQELS	10.0	9.0	-	-	4202_1:203186902-203186902 C>T_GFDDVESFKTKGQYPLIQTLRQELS
1:203186902-203186902 C>T	0.0	4202	MELANOMA	-	-	-	-	CHIT1	ENST00000491855,p.R374Q	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000491855	nonsynonymous SNV	exon10	c.G1121A	p.R374Q	LDDFAGFSCNQGRYPLIQTLRQELN	LDDFAGFSCNQGQYPLIQTLRQELN	10.0	9.0	unscreened	-	4202_1:203186902-203186902 C>T_LDDFAGFSCNQGQYPLIQTLRQELN
X:133921530-133921530 G>A	1.0	4202	MELANOMA	-	-	-	-	FAM122B	uc022cek.1,p.P138S|NM_001170757,p.P104S|uc022cel.1,p.P138S|ENST00000486347,p.P138S|uc004ext.3,p.P85S|uc011mvp.2,p.P104S|NM_145284,p.P138S|uc022cem.1,p.P157S	protein_coding, processed_transcript	uc022cem.1	nonsynonymous SNV	exon7	c.C469T	p.P157S	KMFVSSSGLPPSPVPSPRRFSSRRS	KMFVSSSGLPPSSVPSPRRFSSRRS	6.0	10.0	-	-	4202_X:133921530-133921530 G>A_KMFVSSSGLPPSSVPSPRRFSSRRS
2:85596943-85596943 C>G	1.0	4202	MELANOMA	-	-	-	-	ELMOD3	ENST00000315658,p.S117C|NM_001135021,p.S117C|ENST00000444108,p.S117C|ENST00000409331,p.S117C|ENST00000409013,p.S117C|ENST00000393852,p.S117C|uc002sph.4,p.S117C|ENST00000423095,p.S117C|ENST00000446464,p.S117C|ENST00000414593,p.S117C|uc002spg.4,p.S117C|uc010ysn.2,p.S117C|NM_001135022,p.S117C|NM_032213,p.S117C|ENST00000409890,p.S117C|ENST00000428955,p.S117C|uc002spf.4,p.S117C|NM_001135023,p.S117C|ENST00000410106,p.S117C|ENST00000409344,p.S117C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ysn.2	nonsynonymous SNV	exon6	c.C350G	p.S117C	SEALQHFQTVDLSPFKKRIQPTIRR	SEALQHFQTVDLCPFKKRIQPTIRR	8.0	3.0	-	-	4202_2:85596943-85596943 C>G_SEALQHFQTVDLCPFKKRIQPTIRR
10:15614275-15614275 G>A	0.0	4202	MELANOMA	-	-	-	-	ITGA8	ENST00000378076,p.H858Y|NM_001291494,p.H843Y|NM_003638,p.H858Y|uc010qcb.1,p.H843Y|uc001ioc.1,p.H858Y	protein_coding, processed_transcript	uc010qcb.1	nonsynonymous SNV	exon24	c.C2527T	p.H843Y	FSARDEFLLYIFHIQTLGPLQCQPN	FSARDEFLLYIFYIQTLGPLQCQPN	3.0	3.0	-	-	4202_10:15614275-15614275 G>A_FSARDEFLLYIFYIQTLGPLQCQPN
1:46878852-46878852 G>A	1.0	4202	MELANOMA	-	-	-	-	FAAH	ENST00000243167,p.R524K|uc001cpu.2,p.R524K|NM_001441,p.R524K	protein_coding, processed_transcript	uc001cpu.2	nonsynonymous SNV	exon14	c.G1571A	p.R524K	VTAEDEAQMEHYRGYFGDIWDKMLQ	VTAEDEAQMEHYKGYFGDIWDKMLQ	6.0	7.0	-	-	4202_1:46878852-46878852 G>A_VTAEDEAQMEHYKGYFGDIWDKMLQ
9:116268766-116268766 G>A	0.0	4202	MELANOMA	-	-	-	-	RGS3	ENST00000394646,p.E79K|NM_144488,p.E360K|NM_130795,p.E79K|ENST00000343817,p.E79K|uc004bhq.4,p.E360K|NM_001282923,p.E250K|ENST00000317613,p.E248K|NM_017790,p.E248K|uc004bhs.4,p.E234K|uc010muy.4,p.E79K|NM_001276261,p.E79K|ENST00000350696,p.E360K|ENST00000374140,p.E360K|uc004bhr.4,p.E248K|uc004bht.4,p.E79K	retained_intron, protein_coding, processed_transcript	uc010muy.4	nonsynonymous SNV	exon3	c.G235A	p.E79K	PVEHWKCVELAHEIRSCPSEIILLV	PVEHWKCVELAHKIRSCPSEIILLV	9.0	10.0	-	-	4202_9:116268766-116268766 G>A_PVEHWKCVELAHKIRSCPSEIILLV
2:71838704-71838704 G>A	0.0	4202	MELANOMA	-	-	-	-	DYSF	ENST00000409651,p.R1404K|uc002sig.4,p.R1358K|ENST00000410041,p.R1390K|uc010fem.3,p.R1373K|ENST00000409582,p.R1389K|uc010feh.3,p.R1358K|ENST00000409762,p.R1389K|NM_001130984,p.R1359K|uc010feg.3,p.R1403K|uc010fen.3,p.R1390K|NM_001130987,p.R1390K|ENST00000409744,p.R1359K|uc010fee.3,p.R1372K|ENST00000429174,p.R1372K|ENST00000409366,p.R1373K|uc010fej.3,p.R1359K|uc002sif.3,p.R1373K|uc010fek.3,p.R1390K|uc010fef.3,p.R1389K|NM_001130980,p.R1389K|NM_001130986,p.R1359K|uc010yqy.2,p.R253K|ENST00000394120,p.R1373K|uc010yqz.2,p.R112K|NM_001130981,p.R1389K|NM_001130982,p.R1404K|NM_001130977,p.R1358K|ENST00000258104,p.R1372K|NM_003494,p.R1372K|uc010fel.3,p.R1359K|uc010fei.3,p.R1389K|NM_001130979,p.R1403K|ENST00000413539,p.R1403K|uc010feo.3,p.R1404K|ENST00000410020,p.R1390K|NM_001130983,p.R1373K|NM_001130985,p.R1390K|NM_001130455,p.R1373K|NM_001130978,p.R1372K|uc002sie.3,p.R1372K|NM_001130976,p.R1358K	protein_coding, processed_transcript	uc010yqz.2	nonsynonymous SNV	exon4	c.G335A	p.R112K	ECGGQTVQSCVIRNLRKNPNFDICT	ECGGQTVQSCVIKNLRKNPNFDICT	6.0	2.0	-	-	4202_2:71838704-71838704 G>A_ECGGQTVQSCVIKNLRKNPNFDICT
14:34029336-34029336 G>A	0.0	4202	MELANOMA	-	-	-	-	NPAS3	ENST00000546849,p.G70S|ENST00000346562,p.G128S|ENST00000341321,p.G160S|NM_001164749,p.G160S|uc001wrv.3,p.G130S|ENST00000551492,p.G165S|ENST00000551634,p.G137S|uc001wrt.3,p.G128S|ENST00000551008,p.G58S|ENST00000548645,p.G130S|ENST00000547068,p.G56S|ENST00000357798,p.G147S|uc001wru.3,p.G160S|ENST00000356141,p.G160S|NM_001165893,p.G130S|NM_173159,p.G147S|NM_022123,p.G128S|uc001wrs.3,p.G147S|uc001wrw.3,p.G58S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wrw.3	nonsynonymous SNV	exon3	c.G172A	p.G58S	AHLGSHILQSLDGFVFALNQEGKFL	AHLGSHILQSLDSFVFALNQEGKFL	5.0	3.0	-	-	4202_14:34029336-34029336 G>A_AHLGSHILQSLDSFVFALNQEGKFL
17:27208841-27208841 T>G	1.0	4202	MELANOMA	-	-	-	-	FLOT2	ENST00000585169,p.E302A|ENST00000394908,p.E302A|uc002hdc.3,p.E302A|NM_004475,p.E302A|ENST00000394906,p.E357A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hdc.3	nonsynonymous SNV	exon8	c.A905C	p.E302A	AEAEAHRIQQIAEGEKVKQVLLAQA	AEAEAHRIQQIAAGEKVKQVLLAQA	9.0	9.0	-	-	4202_17:27208841-27208841 T>G_AEAEAHRIQQIAAGEKVKQVLLAQA
19:3784020-3784020 C>T	0.0	4202	MELANOMA	-	-	-	-	MATK	uc002lyu.3,p.G84E|ENST00000590028,p.G125E|uc002lyv.3,p.G126E|ENST00000310132,p.G125E|NM_139355,p.G125E|ENST00000395045,p.G126E|NM_002378,p.G126E|ENST00000395040,p.G84E|ENST00000590493,p.G14E|uc010dtq.3,p.G125E|ENST00000585778,p.G125E|NM_139354,p.G84E|uc002lyt.3,p.G125E	protein_coding, processed_transcript	uc010dtq.3	nonsynonymous SNV	exon6	c.G374A	p.G125E	ADPKLSLMPWFHGKISGQEAVQQLQ	ADPKLSLMPWFHEKISGQEAVQQLQ	5.0	5.0	-	-	4202_19:3784020-3784020 C>T_ADPKLSLMPWFHEKISGQEAVQQLQ
10:30747133-30747133 C>T	0.0	4202	MELANOMA	-	-	-	-	MAP3K8	uc009xlf.2,p.P332S|NM_001244134,p.P332S|NM_005204,p.P332S|uc001ivj.2,p.P332S|uc001ivi.2,p.P332S|ENST00000375321,p.P332S|ENST00000542547,p.P332S|ENST00000263056,p.P332S	protein_coding	uc009xlf.2	nonsynonymous SNV	exon6	c.C994T	p.P332S	MQTGTPPWVKRYPRSAYPSYLYIIH	MQTGTPPWVKRYSRSAYPSYLYIIH	5.0	5.0	-	-	4202_10:30747133-30747133 C>T_MQTGTPPWVKRYSRSAYPSYLYIIH
2:55408823-55408823 A>C	0.0	4202	MELANOMA	-	-	-	-	CLHC1	ENST00000428621,p.L79V	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000428621	nonsynonymous SNV	exon3	c.T235G	p.L79V	SLFHYSYFLRPSLSQVMLFHVLLMQ	SLFHYSYFLRPSVSQVMLFHVLLMQ	7.0	7.0	-	-	4202_2:55408823-55408823 A>C_SLFHYSYFLRPSVSQVMLFHVLLMQ
5:13823440-13823440 C>T	0.0	4202	MELANOMA	-	-	-	-	DNAH5	uc003jfd.2,p.D2207N|NM_001369,p.D2207N|ENST00000265104,p.D2207N	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon40	c.G6619A	p.D2207N	DEDEPLFLSLIEDLFPNILLDKAGY	DEDEPLFLSLIENLFPNILLDKAGY	1.0	6.0	-	-	4202_5:13823440-13823440 C>T_DEDEPLFLSLIENLFPNILLDKAGY
X:153599603-153599603 G>A	0.0	4202	MELANOMA	-	-	-	2	FLNA	NM_001110556,p.S4F|ENST00000360319,p.S4F|uc004fkk.2,p.S4F|ENST00000422373,p.S4F|uc010nuu.1,p.S4F|ENST00000344736,p.S4F|NM_001456,p.S4F|ENST00000369850,p.S4F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nuu.1	nonsynonymous SNV	exon2	c.C11T	p.S4F	MSSSHSRAGQSAAGAA	MSSFHSRAGQSAAGAA	10.0	10.0	-	-	4202_X:153599603-153599603 G>A_MSSFHSRAGQSAAGAA
19:9452963-9452963 C>T	0.0	4202	MELANOMA	-	-	ID=COSM1004261;OCCURENCE=1(endometrium)	-	ZNF559	uc021uok.1,p.A279V|NM_001202407,p.A237V|ENST00000538743,p.A199V|ENST00000587557,p.A343V|ENST00000393883,p.A279V|NM_001202406,p.A343V|ENST00000603380,p.A279V|uc021uoj.1,p.A237V|ENST00000605750,p.A265V|NM_032497,p.A279V|uc010xkn.2,p.A271V|uc002mle.4,p.A343V|uc031rjh.1,p.A48V|uc031rjg.1,p.A48V	protein_coding, processed_transcript	uc031rjh.1	nonsynonymous SNV	exon4	c.C143T	p.A48V	LPIEHKKFGKAFAFSPDLAKHIRLR	LPIEHKKFGKAFVFSPDLAKHIRLR	7.0	8.0	-	-	4202_19:9452963-9452963 C>T_LPIEHKKFGKAFVFSPDLAKHIRLR
1:172222737-172222737 C>T	0.0	4202	MELANOMA	-	-	-	-	DNM3	ENST00000358155,p.P562S|ENST00000355305,p.P572S|ENST00000520906,p.P562S|ENST00000367731,p.P562S|NM_015569,p.P562S|NM_001136127,p.P562S|uc001gif.4,p.P562S|uc001gie.4,p.P562S|uc009wwb.3,p.P562S	retained_intron, protein_coding	uc009wwb.3	nonsynonymous SNV	exon15	c.C1684T	p.P562S	KDDEEKEKKYMLPLDNLKVRDVEKS	KDDEEKEKKYMLSLDNLKVRDVEKS	5.0	4.0	-	-	4202_1:172222737-172222737 C>T_KDDEEKEKKYMLSLDNLKVRDVEKS
14:23375504-23375504 G>A	1.0	4202	MELANOMA	-	-	-	-	RBM23	ENST00000346528,p.R85C|ENST00000557549,p.R85C|NM_018107,p.R85C|NM_001077352,p.R85C|uc001whk.1,p.R101C|ENST00000399922,p.R85C|NM_001077351,p.R101C|ENST00000554256,p.R101C|ENST00000359890,p.R101C|uc001whh.3,p.R85C|ENST00000555676,p.R85C|uc001whi.3,p.R85C|uc001whg.3,p.R101C	retained_intron, protein_coding, processed_transcript	uc001whk.1	nonsynonymous SNV	exon5	c.C301T	p.R101C	SRSRSPGRQCRHRSRSWDRRHGSES	SRSRSPGRQCRHCSRSWDRRHGSES	10.0	8.0	-	-	4202_14:23375504-23375504 G>A_SRSRSPGRQCRHCSRSWDRRHGSES
1:247614623-247614623 G>A	0.0	4202	MELANOMA	-	-	-	-	OR2B11	NM_001004492,p.S221F|ENST00000318749,p.S221F|uc010pyx.2,p.S221F	protein_coding	uc010pyx.2	nonsynonymous SNV	exon1	c.C662T	p.S221F	FFVLVPLALILLSYGFIARAVLRIQ	FFVLVPLALILLFYGFIARAVLRIQ	1.0	9.0	-	-	4202_1:247614623-247614623 G>A_FFVLVPLALILLFYGFIARAVLRIQ
2:40657338-40657338 G>A	0.0	4202	MELANOMA	-	-	-	-	SLC8A1	ENST00000406391,p.S28F|uc002rry.3,p.S28F|uc002rrx.3,p.S28F|ENST00000405269,p.S28F|uc010fan.1,p.S28F|ENST00000402441,p.S28F|ENST00000542756,p.S28F|ENST00000408028,p.S28F|uc002rsd.4,p.S28F|NM_001252624,p.S28F|ENST00000417271,p.S28F|ENST00000403092,p.S28F|ENST00000405901,p.S28F|uc002rsa.3,p.S28F|ENST00000448531,p.S28F|NM_001112802,p.S28F|ENST00000542024,p.S28F|NM_021097,p.S28F|ENST00000407929,p.S25F|NM_001112801,p.S28F|ENST00000332839,p.S28F|ENST00000455476,p.S28F|uc002rsb.2,p.S28F|NM_001112800,p.S28F|uc002rsc.1,p.S28F|uc002rrz.3,p.S28F|ENST00000406785,p.S28F	protein_coding, nonsense_mediated_decay	uc010fan.1	nonsynonymous SNV	exon3	c.C83T	p.S28F	GFHLLVTVSLLFSHVDHVIAETEME	GFHLLVTVSLLFFHVDHVIAETEME	3.0	8.0	-	-	4202_2:40657338-40657338 G>A_GFHLLVTVSLLFFHVDHVIAETEME
9:14851481-14851481 G>A	0.0	4202	MELANOMA	-	-	-	-	FREM1	ENST00000422223,p.S318L|ENST00000380875,p.S318L|ENST00000380881,p.S319L|ENST00000380880,p.S318L|uc003zlm.3,p.S318L|NM_144966,p.S318L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zlm.3	nonsynonymous SNV	exon7	c.C953T	p.S318L	EVDQFILTSLTTSVLDCEEDETPKP	EVDQFILTSLTTLVLDCEEDETPKP	3.0	7.0	-	-	4202_9:14851481-14851481 G>A_EVDQFILTSLTTLVLDCEEDETPKP
14:20020176-20020176 C>-	0.0	4202	MELANOMA	-	-	-	-	POTEM	uc001vwc.3,p.K15fs|ENST00000547722,p.K15fs|NM_001145442,p.K15fs|ENST00000551509,p.K15fs|ENST00000547848,p.K15fs	protein_coding, nonsense_mediated_decay	uc001vwc.3	frameshift deletion	exon1	c.45delG	p.K15fs	AEAGSMPAASSVKKPFGLRSKMGKW	AEAGSMPAASSVKSHLVSEARWASGAATASPGAGGAARATWALLETTMILL	1.0	1.0	unscreened	-	4202_14:20020176-20020176 C>-_AEAGSMPAASSVKSHLVSEARWASGAATASPGAGGAARATWALLETTMILL
4:189012808-189012808 C>T	0.0	4202	MELANOMA	-	-	-	-	TRIML2	uc003izl.2,p.V295M|ENST00000512729,p.V295M|ENST00000326754,p.V320M|uc011cle.1,p.V370M|NM_173553,p.V295M|uc003izk.1,p.V103M|uc003izj.1,p.V123M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cle.1	nonsynonymous SNV	exon8	c.G1108A	p.V370M	RASGEKVLLTGSVMGTEWTLWVFPP	RASGEKVLLTGSMMGTEWTLWVFPP	1.0	9.0	-	-	4202_4:189012808-189012808 C>T_RASGEKVLLTGSMMGTEWTLWVFPP
6:32629789-32629789 G>A	0.0	4202	MELANOMA	-	-	-	-	HLA-DQB1	ENST00000434651,p.H206Y|ENST00000399084,p.H206Y|ENST00000399079,p.H206Y|ENST00000374943,p.H206Y|uc031snx.1,p.H206Y|uc011dqd.2,p.H206Y|uc003obw.3,p.H206Y|NM_001243961,p.H206Y|ENST00000399082,p.H116Y|uc031snw.1,p.H206Y|uc010juc.2,p.H161Y|NM_002123,p.H206Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031snx.1	nonsynonymous SNV	exon3	c.C616T	p.H206Y	EMTPQRGDVYTCHVEHPSLQSPITV	EMTPQRGDVYTCYVEHPSLQSPITV	10.0	2.0	-	-	4202_6:32629789-32629789 G>A_EMTPQRGDVYTCYVEHPSLQSPITV
14:73563781-73563783 GAA>-	1.0	4202	MELANOMA	-	-	-	-	RBM25	ENST00000526754,p.234_235del|ENST00000525321,p.234_235del|ENST00000261973,p.234_235del|uc010ttu.2,p.234_235del|uc001xno.3,p.234_235del|NM_021239,p.234_235del|ENST00000527432,p.234_235del|uc001xnp.3,p.29_30del|ENST00000540173,p.234_235del|uc001xnn.4,p.234_235del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ttu.2	nonframeshift deletion	exon8	c.702_704del	p.234_235del	LNAPSQESDSHPRKKKKEKKEDIFR	LNAPSQESDSHPRKKKEKKEDIFRR	10.0	3.0	unscreened	-	4202_14:73563781-73563783 GAA>-_LNAPSQESDSHPRKKKEKKEDIFRR
22:16287841-16287841 C>-	0.0	4202	MELANOMA	-	-	-	-	POTEH	ENST00000343518,p.K15fs|uc010gqp.2,p.K15fs|NM_001136213,p.K15fs	protein_coding, nonsense_mediated_decay	uc010gqp.2	frameshift deletion	exon1	c.45delG	p.K15fs	AEAGSMPAASSVKKPFGLRSKMGKW	AEAGSMPAASSVKSHLVSEARWASGAATASPGAGGAARATWALLETTTILL	1.0	1.0	unscreened	-	4202_22:16287841-16287841 C>-_AEAGSMPAASSVKSHLVSEARWASGAATASPGAGGAARATWALLETTTILL
11:5173565-5173565 G>A	0.0	4202	MELANOMA	-	-	-	-	OR52A1	NM_012375,p.S12F|ENST00000328942,p.S12F|uc010qyy.2,p.S12F|ENST00000380367,p.S12F	protein_coding	uc010qyy.2	nonsynonymous SNV	exon1	c.C35T	p.S12F	MSISNITVYMPSVLTLVGIPGLES	MSISNITVYMPFVLTLVGIPGLES	1.0	5.0	-	-	4202_11:5173565-5173565 G>A_MSISNITVYMPFVLTLVGIPGLES
3:46062905-46062905 C>T	0.0	4202	MELANOMA	-	-	ID=COSM1692688;OCCURENCE=1(large_intestine),1(skin)	-	XCR1	uc003cpe.3,p.E179K|uc003cpf.3,p.E179K|ENST00000309285,p.E179K|NM_001024644,p.E179K|NM_005283,p.E179K|uc021wwx.1,p.E179K|ENST00000542109,p.E179K	protein_coding	uc021wwx.1	nonsynonymous SNV	exon1	c.G535A	p.E179K	FHKVLSSGCDYSELTWYLTSVYQHN	FHKVLSSGCDYSKLTWYLTSVYQHN	2.0	8.0	-	-	4202_3:46062905-46062905 C>T_FHKVLSSGCDYSKLTWYLTSVYQHN
19:9047229-9047229 C>T	0.0	4202	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.G11468R|uc002mkp.3,p.G11468R|NM_024690,p.G11468R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon5	c.G34402A	p.G11468R	ASKMLTSLVISSGTDSTTTFPTLTE	ASKMLTSLVISSRTDSTTTFPTLTE	1.0	4.0	-	-	4202_19:9047229-9047229 C>T_ASKMLTSLVISSRTDSTTTFPTLTE
5:161117306-161117306 C>T	0.0	4202	MELANOMA	-	-	-	-	GABRA6	ENST00000274545,p.S258F|ENST00000523217,p.S248F|NM_000811,p.S258F|ENST00000523691,p.S178F|uc003lyv.2,p.S29F|uc003lyu.2,p.S258F	retained_intron, protein_coding, processed_transcript	uc003lyv.2	nonsynonymous SNV	exon1	c.C86T	p.S29F	QIYTPCIMTVILSQVSFWINKESVP	QIYTPCIMTVILFQVSFWINKESVP	1.0	8.0	-	-	4202_5:161117306-161117306 C>T_QIYTPCIMTVILFQVSFWINKESVP
7:99796178-99796178 C>T	0.0	4202	MELANOMA	-	-	-	-	STAG3	uc011kjk.1,p.S384F|ENST00000426455,p.S442F|NM_001282717,p.S442F|uc010lgs.1,p.S230F|NM_012447,p.S442F|ENST00000394018,p.S384F|NM_001282718,p.S384F|NM_001282716,p.S442F|ENST00000317296,p.S442F|uc003utx.1,p.S442F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kjk.1	nonsynonymous SNV	exon11	c.C1151T	p.S384F	YPVVYASHRGLASAAGEFLYWKLFY	YPVVYASHRGLAFAAGEFLYWKLFY	6.0	1.0	-	-	4202_7:99796178-99796178 C>T_YPVVYASHRGLAFAAGEFLYWKLFY
12:7649696-7649696 C>T	0.0	4202	MELANOMA	-	-	-	-	CD163	ENST00000432237,p.G271E|ENST00000396620,p.G271E|NM_004244,p.G271E|uc009zfw.2,p.G271E|NM_203416,p.G271E|ENST00000359156,p.G271E|ENST00000541972,p.G259E|uc001qta.3,p.G271E|uc001qsz.3,p.G271E	retained_intron, protein_coding, processed_transcript	uc009zfw.2	nonsynonymous SNV	exon5	c.G812A	p.G271E	SKGADLSLRLVDGVTECSGRLEVRF	SKGADLSLRLVDEVTECSGRLEVRF	7.0	4.0	-	-	4202_12:7649696-7649696 C>T_SKGADLSLRLVDEVTECSGRLEVRF
3:100497190-100497190 G>A	0.0	4202	MELANOMA	-	-	-	-	ABI3BP	uc003dun.3,p.P713L|uc011bhd.2,p.P667L|uc003duk.3,p.P422L|ENST00000486770,p.P125L|uc003dum.3,p.P124L|uc003dul.3,p.P543L|uc003duj.3,p.P293L|NM_015429,p.P713L|ENST00000471714,p.P1415L|ENST00000284322,p.P713L|ENST00000383691,p.P667L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bhd.2	nonsynonymous SNV	exon36	c.C2000T	p.P667L	KPGTRRPPLPPRPTHPRRKPLPPNN	KPGTRRPPLPPRLTHPRRKPLPPNN	5.0	10.0	-	-	4202_3:100497190-100497190 G>A_KPGTRRPPLPPRLTHPRRKPLPPNN
6:117686803-117686803 G>A	0.0	4202	MELANOMA	-	-	-	1	ROS1	ENST00000368508,p.P972S|ENST00000368507,p.P967S|uc003pxp.1,p.P972S|NM_002944,p.P972S	protein_coding	uc003pxp.1	nonsynonymous SNV	exon19	c.C2914T	p.P972S	GNASSFQILWNGPPAVDWGVVFYSV	GNASSFQILWNGSPAVDWGVVFYSV	1.0	10.0	-	-	4202_6:117686803-117686803 G>A_GNASSFQILWNGSPAVDWGVVFYSV
17:36977211-36977211 C>T	1.0	4202	MELANOMA	-	-	-	-	CWC25	NM_017748,p.R45Q|ENST00000225428,p.R45Q|ENST00000583435,p.R45Q|ENST00000585298,p.R45Q|uc002hqu.4,p.R45Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002hqu.4	nonsynonymous SNV	exon2	c.G134A	p.R45Q	ERKKIEELQRELREERAREEMQRYA	ERKKIEELQRELQEERAREEMQRYA	8.0	9.0	-	-	4202_17:36977211-36977211 C>T_ERKKIEELQRELQEERAREEMQRYA
17:63848113-63848113 C>T	0.0	4202	MELANOMA	-	-	-	-	CEP112	uc002jfm.3,p.E735K|uc010dep.2,p.E693K|uc010deo.3,p.E477K|NM_145036,p.E735K|ENST00000535342,p.E735K|ENST00000392769,p.E735K|ENST00000537949,p.E693K|ENST00000541355,p.E370K|uc002jfl.3,p.E735K|NM_001199165,p.E735K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dep.2	nonsynonymous SNV	exon19	c.G2077A	p.E693K	IADMEAQVHKLREELINVNSQRKQQ	IADMEAQVHKLRKELINVNSQRKQQ	6.0	6.0	-	-	4202_17:63848113-63848113 C>T_IADMEAQVHKLRKELINVNSQRKQQ
1:248570095-248570095 C>T	0.0	4202	MELANOMA	-	-	-	-	OR2T1	NM_030904,p.S267F|ENST00000366474,p.S267F|uc010pzm.2,p.S267F	protein_coding	uc010pzm.2	nonsynonymous SNV	exon1	c.C800T	p.S267F	LMLLIPFSVVLASYARILTTVQCMS	LMLLIPFSVVLAFYARILTTVQCMS	1.0	6.0	-	-	4202_1:248570095-248570095 C>T_LMLLIPFSVVLAFYARILTTVQCMS
8:110457830-110457830 C>T	0.0	4202	MELANOMA	-	-	-	-	PKHD1L1	ENST00000378402,p.A1911V|NM_177531,p.A1911V|uc003yne.3,p.A1911V	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon38	c.C5732T	p.A1911V	NTIAYPPLLFTYALEDTPFLRGIIP	NTIAYPPLLFTYVLEDTPFLRGIIP	1.0	6.0	-	-	4202_8:110457830-110457830 C>T_NTIAYPPLLFTYVLEDTPFLRGIIP
21:28338254-28338254 C>T	0.0	4202	MELANOMA	-	-	-	-	ADAMTS5	NM_007038,p.D153N|ENST00000284987,p.D153N|uc002ymg.3,p.D153N	protein_coding	uc002ymg.3	nonsynonymous SNV	exon1	c.G457A	p.D153N	RSLAVFDLCGGLDGFFAVKHARYTL	RSLAVFDLCGGLNGFFAVKHARYTL	4.0	1.0	unscreened	-	4202_21:28338254-28338254 C>T_RSLAVFDLCGGLNGFFAVKHARYTL
11:107925450-107925451 AG>-	0.0	4202	MELANOMA	-	-	-	-	CUL5	NM_003478,p.T210fs|ENST00000393094,p.T210fs|ENST00000531427,p.T210fs|uc001pjv.3,p.T210fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001pjv.3	frameshift deletion	exon6	c.630_631del	p.T210fs	YRDNFEKAYLDSTERFYRTQAPSYL	YRDNFEKAYLDSTEIL	7.0	1.0	unscreened	-	4202_11:107925450-107925451 AG>-_YRDNFEKAYLDSTEIL
19:1881408-1881408 A>G	0.0	4202	MELANOMA	-	-	-	-	ABHD17A	ENST00000292577,p.L53S|uc002lue.3,p.L53S|uc002lug.3,p.L53S|NM_031213,p.L53S|uc002luf.3,p.L53S|ENST00000250974,p.L53S|ENST00000590661,p.L53S|NM_001130111,p.L53S|ENST00000591351,p.L53S|uc002lud.3,p.L53S	retained_intron, protein_coding, nonsense_mediated_decay	uc002lug.3	nonsynonymous SNV	exon2	c.T158C	p.L53S	PEPGPGGAGAAPLGTLRASSGAPGR	PEPGPGGAGAAPSGTLRASSGAPGR	10.0	1.0	-	-	4202_19:1881408-1881408 A>G_PEPGPGGAGAAPSGTLRASSGAPGR
11:4869955-4869955 C>T	0.0	4202	MELANOMA	-	-	-	-	OR51S1	uc010qyo.2,p.G162S|ENST00000322101,p.G162S|NM_001004758,p.G162S	protein_coding	uc010qyo.2	nonsynonymous SNV	exon1	c.G484A	p.G162S	SKISLAISFRCLGLHLPLPFLLAYM	SKISLAISFRCLSLHLPLPFLLAYM	1.0	3.0	-	-	4202_11:4869955-4869955 C>T_SKISLAISFRCLSLHLPLPFLLAYM
1:54348816-54348816 T>A	1.0	4202	MELANOMA	-	-	-	-	YIPF1	ENST00000464950,p.L55F|ENST00000072644,p.L55F|ENST00000412288,p.L55F|uc001cvu.3,p.L55F|NM_018982,p.L55F|ENST00000539954,p.L80F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001cvu.3	nonsynonymous SNV	exon4	c.A165T	p.L55F	SPRGSGREEDDELLGNDDSDKTELL	SPRGSGREEDDEFLGNDDSDKTELL	9.0	4.0	-	-	4202_1:54348816-54348816 T>A_SPRGSGREEDDEFLGNDDSDKTELL
7:140453136-140453136 A>T	1.0	4202	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|ENST00000288602,p.V600E|ENST00000479537,p.V28E|NM_004333,p.V600E	retained_intron, protein_coding, nonsense_mediated_decay	uc003vwc.4	nonsynonymous SNV	exon15	c.T1799A	p.V600E	LTVKIGDFGLATVKSRWSGSHQFEQ	LTVKIGDFGLATEKSRWSGSHQFEQ	7.0	10.0	-	-	4202_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ
4:104079586-104079586 A>C	1.0	4202	MELANOMA	-	-	-	-	CENPE	NM_001813,p.N968K|ENST00000503705,p.N968K|NM_001286734,p.N943K|uc003hxb.1,p.N968K|uc003hxc.1,p.N943K|ENST00000380026,p.N943K|ENST00000265148,p.N968K	retained_intron, protein_coding, processed_transcript	uc003hxc.1	nonsynonymous SNV	exon23	c.T2829G	p.N943K	VNMNIDTQEQLRNALESLKQHQETI	VNMNIDTQEQLRKALESLKQHQETI	6.0	4.0	-	-	4202_4:104079586-104079586 A>C_VNMNIDTQEQLRKALESLKQHQETI
12:72969300-72969300 G>A	0.0	4202	MELANOMA	-	-	ID=COSM943356;OCCURENCE=2(endometrium)	-	TRHDE	ENST00000261180,p.D722N|NM_013381,p.D722N|uc001sxa.3,p.D722N	retained_intron, protein_coding, processed_transcript	uc001sxa.3	nonsynonymous SNV	exon12	c.G2164A	p.D722N	EVLSVSNRAGLIDDAFSLARAGYLP	EVLSVSNRAGLINDAFSLARAGYLP	1.0	3.0	-	-	4202_12:72969300-72969300 G>A_EVLSVSNRAGLINDAFSLARAGYLP
7:47454700-47454700 G>A	0.0	4202	MELANOMA	-	-	-	-	TNS3	ENST00000398879,p.T193I|ENST00000311160,p.T193I|uc003tnw.3,p.T193I|ENST00000457718,p.T296I|ENST00000355730,p.T193I|ENST00000450444,p.T282I|ENST00000442536,p.T193I|ENST00000458317,p.T193I|NM_022748,p.T193I|uc010kyo.1,p.T193I	retained_intron, protein_coding, processed_transcript	uc010kyo.1	nonsynonymous SNV	exon11	c.C578T	p.T193I	HFVILHGTPNFDTGGVCRPFLKLYQ	HFVILHGTPNFDIGGVCRPFLKLYQ	9.0	2.0	-	-	4202_7:47454700-47454700 G>A_HFVILHGTPNFDIGGVCRPFLKLYQ
6:32052279-32052279 G>A	0.0	4202	MELANOMA	-	-	-	-	TNXB	ENST00000375244,p.S1119F|uc003nzl.2,p.S1119F|NM_019105,p.S1119F|ENST00000375247,p.S1119F	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon8	c.C3356T	p.S1119F	PVEGPQRSAVITSLDPGRKYKFVLY	PVEGPQRSAVITFLDPGRKYKFVLY	6.0	5.0	-	-	4202_6:32052279-32052279 G>A_PVEGPQRSAVITFLDPGRKYKFVLY
8:125989090-125989090 G>-	0.0	4202	MELANOMA	-	-	-	-	ZNF572	ENST00000319286,p.G194fs|uc003yrr.3,p.G194fs|NM_152412,p.G194fs	protein_coding	uc003yrr.3	frameshift deletion	exon3	c.580delG	p.G194fs	HTGEKPYQCGECGKSFSNTSHLIIH	HTGEKPYQCGECGKASAIPPILLSMRELTRERNPTNVPSVGRDSAAALTLFSITDHIQVKNHMNVLSAEKASVTAMS	4.0	1.0	unscreened	-	4202_8:125989090-125989090 G>-_HTGEKPYQCGECGKASAIPPILLSMRELTRERNPTNVPSVGRDSAAALTLFSITDHIQVKNHMNVLSAEKASVTAMS
11:67191018-67191018 G>A	0.0	4202	MELANOMA	-	-	-	-	CARNS1	ENST00000423745,p.C477Y|ENST00000307823,p.C477Y|uc001olc.4,p.C616Y|NM_001166222,p.C600Y|uc010rpr.2,p.C600Y|uc021qmh.1,p.C35Y|uc009yrp.3,p.C477Y|ENST00000445895,p.C600Y|NM_020811,p.C477Y|ENST00000531040,p.C574Y	retained_intron, protein_coding, processed_transcript	uc021qmh.1	nonsynonymous SNV	exon1	c.G104A	p.C35Y	LKLDGCFSYWDDCLVLTALLCQELG	LKLDGCFSYWDDYLVLTALLCQELG	1.0	1.0	-	-	4202_11:67191018-67191018 G>A_LKLDGCFSYWDDYLVLTALLCQELG
17:60766918-60766918 C>T	0.0	4202	MELANOMA	-	-	-	-	MRC2	NM_006039,p.P1124S|ENST00000303375,p.P1124S|uc002jae.4,p.P195S|uc002jad.4,p.P1124S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jae.4	nonsynonymous SNV	exon8	c.C583T	p.P195S	DPSLSPSPAALPPAPGTELSYLNGT	DPSLSPSPAALPSAPGTELSYLNGT	7.0	10.0	-	-	4202_17:60766918-60766918 C>T_DPSLSPSPAALPSAPGTELSYLNGT
11:7064707-7064707 C>A	0.0	4202	MELANOMA	-	-	-	-	NLRP14	uc001mfb.1,p.Q484K|ENST00000299481,p.Q484K|NM_176822,p.Q484K	protein_coding	uc001mfb.1	nonsynonymous SNV	exon4	c.C1450A	p.Q484K	YENCYVFTHLHVQEFFAAMFYMLKG	YENCYVFTHLHVKEFFAAMFYMLKG	1.0	5.0	-	-	4202_11:7064707-7064707 C>A_YENCYVFTHLHVKEFFAAMFYMLKG
9:39133103-39133103 C>T	0.0	4202	MELANOMA	-	-	-	-	CNTNAP3	uc004abj.3,p.G635S|ENST00000323947,p.G542S|ENST00000377659,p.G635S|ENST00000377656,p.G635S|ENST00000443583,p.G542S|uc011lqs.1,p.G542S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lqs.1	nonsynonymous SNV	exon11	c.G1624A	p.G542S	NMTDAAWTVVQHGGPDAVTLRGAPS	NMTDAAWTVVQHSGPDAVTLRGAPS	6.0	2.0	-	-	4202_9:39133103-39133103 C>T_NMTDAAWTVVQHSGPDAVTLRGAPS
9:39133103-39133103 C>T	0.0	4202	MELANOMA	-	-	-	-	CNTNAP3	NM_033655,p.G636S|ENST00000297668,p.G636S|uc004abi.3,p.G636S|uc004abk.1,p.G636S|ENST00000358144,p.G548S	protein_coding, processed_transcript, nonsense_mediated_decay	uc004abk.1	nonsynonymous SNV	exon13	c.G1906A	p.G636S	MTADAAWTVVQHGGPDAVTLRGAPS	MTADAAWTVVQHSGPDAVTLRGAPS	6.0	2.0	-	-	4202_9:39133103-39133103 C>T_MTADAAWTVVQHSGPDAVTLRGAPS
3:158537512-158537512 C>T	1.0	4202	MELANOMA	-	-	-	-	MFSD1	ENST00000415822,p.L292F|NM_001289406,p.L146F|ENST00000392813,p.L253F|NM_022736,p.L292F|uc003fcn.2,p.L146F|uc011bow.2,p.L253F|NM_001289407,p.L170F|NM_001167903,p.L253F|uc003fcl.2,p.L292F|ENST00000264266,p.L243F|ENST00000477743,p.L77F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bow.2	nonsynonymous SNV	exon7	c.C757T	p.L253F	ALAYLDQRAERILHKEQGKTGEVIK	ALAYLDQRAERIFHKEQGKTGEVIK	9.0	4.0	-	-	4202_3:158537512-158537512 C>T_ALAYLDQRAERIFHKEQGKTGEVIK
22:16267050-16267050 G>A	0.0	4202	MELANOMA	-	-	ID=COSM1221576;OCCURENCE=1(large_intestine),2(NS)	-	POTEH	uc010gqp.2,p.P467S|uc002zlj.1,p.P302S|ENST00000343518,p.P467S|uc002zlh.1,p.P186S|NM_001136213,p.P467S	protein_coding, nonsense_mediated_decay	uc010gqp.2	nonsynonymous SNV	exon9	c.C1399T	p.P467S	EMKKHGSTHMGFPENLTNGATADNG	EMKKHGSTHMGFSENLTNGATADNG	1.0	1.0	unscreened	-	4202_22:16267050-16267050 G>A_EMKKHGSTHMGFSENLTNGATADNG
15:33446973-33446973 T>C	0.0	4202	MELANOMA	-	-	-	-	FMN1	uc031qrh.1,p.H48R|NM_001277313,p.H48R|ENST00000561249,p.H48R|NM_001277314,p.H48R|ENST00000559047,p.H48R|uc001zhh.4,p.H48R|ENST00000320930,p.H48R	retained_intron, protein_coding, processed_transcript	uc031qrh.1	nonsynonymous SNV	exon4	c.A143G	p.H48R	GTVTLDRSNKGFHNCYQVREESDII	GTVTLDRSNKGFRNCYQVREESDII	9.0	4.0	-	-	4202_15:33446973-33446973 T>C_GTVTLDRSNKGFRNCYQVREESDII
12:56031025-56031025 C>T	0.0	4202	MELANOMA	-	-	-	-	OR10P1	uc010spq.2,p.T117M|NM_206899,p.T117M|ENST00000309675,p.T117M	protein_coding	uc010spq.2	nonsynonymous SNV	exon1	c.C350T	p.T117M	FIVLGISECCLLTAMAYDRYVAICQ	FIVLGISECCLLMAMAYDRYVAICQ	1.0	1.0	unscreened	-	4202_12:56031025-56031025 C>T_FIVLGISECCLLMAMAYDRYVAICQ
20:3654081-3654081 G>A	0.0	4202	MELANOMA	-	-	-	-	ADAM33	uc010zqh.1,p.S377L	protein_coding, processed_transcript	uc010zqh.1	nonsynonymous SNV	exon10	c.C1130T	p.S377L	PQPPWPMRSATASASATTPTAAAWR	PQPPWPMRSATALASATTPTAAAWR	3.0	9.0	-	-	4202_20:3654081-3654081 G>A_PQPPWPMRSATALASATTPTAAAWR
22:41634060-41634060 G>A	0.0	4202	MELANOMA	-	-	-	-	CHADL	uc010gyj.3,p.P339L|ENST00000216241,p.P339L|NM_138481,p.P339L|uc003azq.4,p.P339L	protein_coding	uc010gyj.3	nonsynonymous SNV	exon3	c.C1016T	p.P339L	RARVRSDGACQGPRRLRGEALDALR	RARVRSDGACQGLRRLRGEALDALR	1.0	3.0	-	-	4202_22:41634060-41634060 G>A_RARVRSDGACQGLRRLRGEALDALR
2:107459566-107459566 G>A	0.0	4202	MELANOMA	-	-	-	-	ST6GAL2	NM_001142352,p.P290S|uc002tdq.3,p.P290S|NM_001142351,p.P290S|ENST00000361686,p.P290S|uc002tds.3,p.P290S|ENST00000409382,p.P290S|ENST00000409087,p.P290S|NM_032528,p.P290S|uc002tdr.3,p.P290S	protein_coding	uc002tds.3	nonsynonymous SNV	exon2	c.C868T	p.P290S	RLVPAVPLSQLHPRGLRSCAVVMSA	RLVPAVPLSQLHSRGLRSCAVVMSA	1.0	9.0	-	-	4202_2:107459566-107459566 G>A_RLVPAVPLSQLHSRGLRSCAVVMSA
15:48500283-48500283 G>A	0.0	4202	MELANOMA	-	-	-	-	SLC12A1	uc010uex.2,p.G123R|uc001zwn.4,p.G123R|NM_001184832,p.G123R|ENST00000561031,p.G123R|ENST00000380993,p.G123R|ENST00000330289,p.G123R|NM_000338,p.G123R|ENST00000558405,p.G123R|uc010bem.3,p.G123R|ENST00000396577,p.G123R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uex.2	nonsynonymous SNV	exon1	c.G367A	p.G123R	KIEYYRNTGSISGPKVNRPSLLEIH	KIEYYRNTGSISRPKVNRPSLLEIH	2.0	6.0	-	-	4202_15:48500283-48500283 G>A_KIEYYRNTGSISRPKVNRPSLLEIH
10:124399785-124399785 C>T	0.0	4202	MELANOMA	-	-	-	-	DMBT1	uc021qag.1,p.S2252F|uc021qah.1,p.S1634F|NM_017579,p.S2252F|ENST00000368956,p.S1634F|uc001lgl.1,p.S2252F|ENST00000359586,p.S982F|NM_004406,p.S1634F|ENST00000344338,p.S2252F|uc009xzz.1,p.S2261F|uc001lgm.1,p.S1634F|uc021qaf.1,p.S2262F|uc009yab.1,p.S965F|uc001lgk.1,p.S2262F|NM_007329,p.S2262F|ENST00000330163,p.S1634F|uc010qtx.1,p.S982F|ENST00000368909,p.S2262F|ENST00000368955,p.S2252F|uc009yac.1,p.S556F|ENST00000338354,p.S2262F	protein_coding	uc021qah.1	nonsynonymous SNV	exon39	c.C4901T	p.S1634F	YGNFDVNISFYTSSSFLYPVTSRPY	YGNFDVNISFYTFSSFLYPVTSRPY	1.0	6.0	-	-	4202_10:124399785-124399785 C>T_YGNFDVNISFYTFSSFLYPVTSRPY
12:124272482-124272482 G>A	0.0	4202	MELANOMA	-	-	-	-	DNAH10	NM_207437,p.R457Q|uc001uft.4,p.R457Q|ENST00000409039,p.R457Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon10	c.G1370A	p.R457Q	EASGREDRWEFDRKRLFERTDYMAT	EASGREDRWEFDQKRLFERTDYMAT	2.0	1.0	unscreened	-	4202_12:124272482-124272482 G>A_EASGREDRWEFDQKRLFERTDYMAT
7:127238562-127238565 GTGG>-	0.0	4202	MELANOMA	-	-	-	-	FSCN3	ENST00000265825,p.C345fs|uc003vmd.2,p.C345fs|ENST00000420086,p.C211fs|NM_020369,p.C345fs|uc011koh.1,p.C211fs|uc010llc.2,p.C345fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011koh.1	frameshift deletion	exon5	c.632_635del	p.C211fs	LESDTFFRMHWNCGRIILQSCRGRF	LESDTFFRMHWNSGSSCSPAGGASWALHPTAC	1.0	1.0	unscreened	-	4202_7:127238562-127238565 GTGG>-_LESDTFFRMHWNSGSSCSPAGGASWALHPTAC
X:53106338-53106338 C>T	0.0	4202	MELANOMA	-	-	ID=COSM462210,COSM462209;OCCURENCE=1(cervix)	-	GPR173	uc004dru.3,p.R179C|ENST00000332582,p.R179C|uc022bxc.1,p.R179C|NM_018969,p.R179C	protein_coding	uc022bxc.1	nonsynonymous SNV	exon1	c.C535T	p.R179C	FIREEDQCIFEHRYFKANDTLGFML	FIREEDQCIFEHCYFKANDTLGFML	2.0	10.0	-	-	4202_X:53106338-53106338 C>T_FIREEDQCIFEHCYFKANDTLGFML
19:43093049-43093050 TG>-	0.0	4202	MELANOMA	-	-	-	-	CEACAM8	ENST00000244336,p.Q282fs|NM_001816,p.Q282fs|uc002oud.2,p.Q282fs	protein_coding	uc002oud.2	frameshift deletion	exon4	c.844_845del	p.Q282fs	SWSVNGTFQQYTQKLFIPNITTKNS	SWSVNGTFQQYTKALYPQHHYKEQRILCLPHH	1.0	2.0	unscreened	-	4202_19:43093049-43093050 TG>-_SWSVNGTFQQYTKALYPQHHYKEQRILCLPHH
12:6972535-6972535 C>T	0.0	4202	MELANOMA	-	-	-	-	USP5	uc001qri.4,p.P650S|ENST00000229268,p.P650S|NM_001098536,p.P650S	retained_intron, protein_coding, processed_transcript	uc001qri.4	nonsynonymous SNV	exon15	c.C1948T	p.P650S	DEDSFCSPHFSSPTSPMLDESVIIQ	DEDSFCSPHFSSSTSPMLDESVIIQ	9.0	3.0	-	-	4202_12:6972535-6972535 C>T_DEDSFCSPHFSSSTSPMLDESVIIQ
2:88327401-88327401 T>C	1.0	4202	MELANOMA	-	-	-	-	KRCC1	ENST00000347055,p.K228E|uc002sso.1,p.K228E|NM_016618,p.K228E|uc002ssp.1,p.K228E|uc021vko.1,p.K228E	protein_coding	uc021vko.1	nonsynonymous SNV	exon1	c.A682G	p.K228E	NRKEKKSRDVVSKKEERKRTKKKKE	NRKEKKSRDVVSEKEERKRTKKKKE	9.0	7.0	-	-	4202_2:88327401-88327401 T>C_NRKEKKSRDVVSEKEERKRTKKKKE
2:228882839-228882839 G>A	0.0	4202	MELANOMA	-	-	-	-	SPHKAP	uc010zlx.1,p.P911S|ENST00000344657,p.P911S|uc002vpp.2,p.P911S|uc002vpq.2,p.P911S|ENST00000392056,p.P911S|NM_001142644,p.P911S|NM_030623,p.P911S	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.C2731T	p.P911S	VNLSLLGDDLLLPAQSTLQTKHPDI	VNLSLLGDDLLLSAQSTLQTKHPDI	1.0	7.0	-	-	4202_2:228882839-228882839 G>A_VNLSLLGDDLLLSAQSTLQTKHPDI
6:27277851-27277851 G>A	0.0	4202	MELANOMA	-	-	-	-	POM121L2	ENST00000444565,p.T700I|NM_033482,p.T700I|uc011dku.1,p.T700I|ENST00000377451,p.T636I	protein_coding	uc011dku.1	nonsynonymous SNV	exon1	c.C2099T	p.T700I	HHHPTIPTVHTVTMFTQVLSSVVQI	HHHPTIPTVHTVIMFTQVLSSVVQI	1.0	9.0	-	-	4202_6:27277851-27277851 G>A_HHHPTIPTVHTVIMFTQVLSSVVQI
7:146805338-146805338 A>G	0.0	4202	MELANOMA	-	-	-	2	CNTNAP2	uc003weu.2,p.K217R|NM_014141,p.K217R|ENST00000361727,p.K217R	protein_coding, processed_transcript	uc003weu.2	nonsynonymous SNV	exon5	c.A650G	p.K217R	MKTLKDVIALNFKTSESEGVILHGE	MKTLKDVIALNFRTSESEGVILHGE	1.0	10.0	-	-	4202_7:146805338-146805338 A>G_MKTLKDVIALNFRTSESEGVILHGE
11:5799780-5799780 C>T	0.0	4202	MELANOMA	-	-	-	-	OR52N5	NM_001001922,p.E29K|ENST00000317093,p.E29K|uc010qzn.2,p.E29K	protein_coding	uc010qzn.2	nonsynonymous SNV	exon1	c.G85A	p.E29K	PPSFILNGIPGLERVHVWISLPLCT	PPSFILNGIPGLKRVHVWISLPLCT	1.0	6.0	-	-	4202_11:5799780-5799780 C>T_PPSFILNGIPGLKRVHVWISLPLCT
1:236157092-236157092 G>A	0.0	4202	MELANOMA	-	-	-	-	NID1	uc001hxo.3,p.P870S|ENST00000366595,p.P737S|NM_002508,p.P870S|uc009xgd.3,p.P737S|ENST00000264187,p.P870S	protein_coding	uc009xgd.3	nonsynonymous SNV	exon10	c.C2209T	p.P737S	GAAGATDPQRPIPPGLFVPECDAHG	GAAGATDPQRPISPGLFVPECDAHG	6.0	8.0	-	-	4202_1:236157092-236157092 G>A_GAAGATDPQRPISPGLFVPECDAHG
7:100644127-100644127 C>T	0.0	4202	MELANOMA	-	-	-	-	MUC12	ENST00000379442,p.T3571I|NM_001164462,p.T3428I|ENST00000536621,p.T3428I|uc003uxo.3,p.T3428I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C10283T	p.T3428I	ATGTIVLPARSTTSVLLGESTTSPI	ATGTIVLPARSTISVLLGESTTSPI	1.0	1.0	unscreened	-	4202_7:100644127-100644127 C>T_ATGTIVLPARSTISVLLGESTTSPI
4:70823497-70823497 G>A	0.0	4202	MELANOMA	-	-	-	-	CSN2	uc003hes.4,p.P57L|ENST00000353151,p.P57L|uc003het.4,p.P56L|NM_001891,p.P57L	protein_coding	uc003het.4	nonsynonymous SNV	exon5	c.C167T	p.P56L	QQGEDEHQDKIYPSFQPQPLIYPFV	QQGEDEHQDKIYLSFQPQPLIYPFV	1.0	10.0	-	-	4202_4:70823497-70823497 G>A_QQGEDEHQDKIYLSFQPQPLIYPFV
7:47454701-47454701 T>A	0.0	4202	MELANOMA	-	-	-	-	TNS3	ENST00000311160,p.T193S|ENST00000398879,p.T193S|NM_022748,p.T193S|ENST00000355730,p.T193S|ENST00000442536,p.T193S|uc003tnw.3,p.T193S|ENST00000450444,p.T282S|uc010kyo.1,p.T193S|ENST00000457718,p.T296S|ENST00000458317,p.T193S	retained_intron, protein_coding, processed_transcript	uc010kyo.1	nonsynonymous SNV	exon11	c.A577T	p.T193S	HFVILHGTPNFDTGGVCRPFLKLYQ	HFVILHGTPNFDSGGVCRPFLKLYQ	9.0	2.0	-	-	4202_7:47454701-47454701 T>A_HFVILHGTPNFDSGGVCRPFLKLYQ
14:19574231-19574231 C>T	0.0	4202	MELANOMA	-	-	-	-	POTEG	uc001vuz.1,p.P430S|NM_001005356,p.P430S|ENST00000547889,p.P430S|ENST00000409832,p.P430S	protein_coding, nonsense_mediated_decay	uc001vuz.1	nonsynonymous SNV	exon9	c.C1288T	p.P430S	EMKKHGSTHMGFPENLPNGATADNG	EMKKHGSTHMGFSENLPNGATADNG	2.0	2.0	unscreened	-	4202_14:19574231-19574231 C>T_EMKKHGSTHMGFSENLPNGATADNG
2:231103548-231103548 G>A	0.0	4202	MELANOMA	-	-	-	-	SP140	ENST00000373645,p.S160N|uc002vqj.3,p.S160N|NM_001005176,p.S160N	retained_intron, protein_coding, processed_transcript	uc002vqj.3	nonsynonymous SNV	exon4	c.G479A	p.S160N	VSPNKDWRSHEESLAHTGTLRRSCM	VSPNKDWRSHEENLAHTGTLRRSCM	5.0	3.0	-	-	4202_2:231103548-231103548 G>A_VSPNKDWRSHEENLAHTGTLRRSCM
2:125192148-125192148 C>T	0.0	4202	MELANOMA	-	-	-	-	CNTNAP5	NM_130773,p.S206F|ENST00000431078,p.S206F|uc010flu.3,p.S206F|uc002tno.3,p.S206F	retained_intron, protein_coding, processed_transcript	uc010flu.3	nonsynonymous SNV	exon5	c.C617T	p.S206F	NQKLMSTLKDVISLKFKSMQGDGVL	NQKLMSTLKDVIFLKFKSMQGDGVL	1.0	3.0	-	-	4202_2:125192148-125192148 C>T_NQKLMSTLKDVIFLKFKSMQGDGVL
6:22570478-22570478 G>-	0.0	4202	MELANOMA	-	-	-	-	HDGFL1	uc003nds.3,p.R225fs|ENST00000510882,p.R225fs|NM_138574,p.R225fs|ENST00000230012,p.R225fs	protein_coding	uc003nds.3	frameshift deletion	exon1	c.674delG	p.R225fs	VCEPPQPEEEELREEEVADEEASQE	VCEPPQPEEEELRRKKSRTRRPPRSGMPRHRAAEIATAC	1.0	1.0	unscreened	-	4202_6:22570478-22570478 G>-_VCEPPQPEEEELRRKKSRTRRPPRSGMPRHRAAEIATAC
7:138968535-138968535 C>T	1.0	4202	MELANOMA	-	-	-	-	UBN2	uc011kqr.2,p.P962S|ENST00000473989,p.P962S|NM_173569,p.P962S|ENST00000288561,p.P879S	protein_coding	uc011kqr.2	nonsynonymous SNV	exon15	c.C2884T	p.P962S	SQTNPVVKLSNNPQLSCSSSLIKTS	SQTNPVVKLSNNSQLSCSSSLIKTS	6.0	8.0	-	-	4202_7:138968535-138968535 C>T_SQTNPVVKLSNNSQLSCSSSLIKTS
X:78427015-78427015 G>A	0.0	4202	MELANOMA	-	-	-	-	GPR174	ENST00000276077,p.D171N|uc004edg.1,p.D171N|NM_032553,p.D171N	protein_coding	uc004edg.1	nonsynonymous SNV	exon1	c.G511A	p.D171N	DDTSGNRTKCFVDLPTRNVNLAQSV	DDTSGNRTKCFVNLPTRNVNLAQSV	2.0	10.0	-	-	4202_X:78427015-78427015 G>A_DDTSGNRTKCFVNLPTRNVNLAQSV
15:41228464-41228464 C>T	0.0	4202	MELANOMA	-	-	-	-	DLL4	uc001zng.2,p.R427C|ENST00000249749,p.R427C|NM_019074,p.R427C	retained_intron, protein_coding	uc001zng.2	nonsynonymous SNV	exon9	c.C1279T	p.R427C	GQCLNRGPSRMCRCRPGFTGTYCEL	GQCLNRGPSRMCCCRPGFTGTYCEL	6.0	8.0	-	-	4202_15:41228464-41228464 C>T_GQCLNRGPSRMCCCRPGFTGTYCEL
14:64469753-64469753 C>T	1.0	4202	MELANOMA	-	-	-	-	SYNE2	uc021ruh.1,p.H1368Y|ENST00000344113,p.H1368Y|NM_182914,p.H1368Y|NM_015180,p.H1368Y|ENST00000554584,p.H1368Y|uc001xgm.3,p.H1368Y|ENST00000358025,p.H1368Y|uc001xgl.3,p.H1368Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ruh.1	nonsynonymous SNV	exon29	c.C4102T	p.H1368Y	NTLTVKNKEGEIHLMKDKAKHLDKC	NTLTVKNKEGEIYLMKDKAKHLDKC	9.0	6.0	-	-	4202_14:64469753-64469753 C>T_NTLTVKNKEGEIYLMKDKAKHLDKC
19:42489309-42489309 C>G	0.0	4202	MELANOMA	-	-	-	-	ATP1A3	NM_152296,p.G252R|ENST00000543770,p.G263R|NM_001256213,p.G263R|NM_001256214,p.G265R|ENST00000545399,p.G265R|ENST00000302102,p.G252R|ENST00000602133,p.G222R|ENST00000441343,p.G252R|uc002osh.4,p.G252R|uc010xwg.2,p.G222R|uc010xwf.2,p.G263R|uc002osg.4,p.G252R|uc010xwh.3,p.G265R	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xwh.3	nonsynonymous SNV	exon8	c.G793C	p.G265R	VEGTARGVVVATGDRTVMGRIATLA	VEGTARGVVVATRDRTVMGRIATLA	1.0	2.0	-	-	4202_19:42489309-42489309 C>G_VEGTARGVVVATRDRTVMGRIATLA
22:38318322-38318322 C>T	1.0	4202	MELANOMA	-	-	-	-	MICALL1	ENST00000215957,p.P305S|uc003aui.3,p.P305S|NM_033386,p.P305S	protein_coding, processed_transcript	uc003aui.3	nonsynonymous SNV	exon6	c.C913T	p.P305S	LASPPAGRPTPAPRKASESTTPAPP	LASPPAGRPTPASRKASESTTPAPP	9.0	10.0	-	-	4202_22:38318322-38318322 C>T_LASPPAGRPTPASRKASESTTPAPP
20:57484420-57484420 C>T	1.0	4202	MELANOMA	-	-	ID=COSM27887,COSM123397;OCCURENCE=1(autonomic_ganglia),14(ovary),14(soft_tissue),137(pituitary),3(kidney),5(liver),97(pancreas),8(adrenal_gland),36(large_intestine),3(biliary_tract),5(parathyroid),1(breast),7(small_intestine),56(bone),1(upper_aerodigestive_tract),6(stomach),1(haematopoietic_and_lymphoid_tissue),7(cervix),2(testis),2(lung),8(thyroid)	1	GNAS	NM_001077489,p.R186C|ENST00000265620,p.R186C|uc002xzx.3,p.R142C|uc002yaa.3,p.R186C|ENST00000371085,p.R201C|uc002yae.3,p.R126C|uc021wfo.1,p.R202C|NM_080425,p.R844C|NM_001077488,p.R202C|ENST00000371095,p.R187C|ENST00000354359,p.R202C|uc002xzt.3,p.R169C|NM_000516,p.R201C|ENST00000603023,p.R127C|ENST00000604005,p.R142C|ENST00000306090,p.R187C|ENST00000371100,p.R844C|uc021wfp.1,p.R187C|ENST00000605724,p.R128C|uc021wfn.1,p.R201C|uc002yad.3,p.R92C|ENST00000605560,p.R142C|ENST00000371102,p.R830C|uc010gjq.3,p.R142C|NM_080426,p.R187C|uc002xzw.3,p.R844C	retained_intron, protein_coding, processed_transcript	uc021wfp.1	nonsynonymous SNV	exon7	c.C559T	p.R187C	DYVPSDQDLLRCRVLTSGIFETKFQ	DYVPSDQDLLRCCVLTSGIFETKFQ	10.0	8.0	-	-	4202_20:57484420-57484420 C>T_DYVPSDQDLLRCCVLTSGIFETKFQ
11:55873323-55873323 G>A	0.0	4202	MELANOMA	-	-	-	-	OR8H2	uc010riy.2,p.G269R|NM_001005200,p.G269R|ENST00000313503,p.G269R	protein_coding	uc010riy.2	nonsynonymous SNV	exon1	c.G805A	p.G269R	FTYLKPRKSYSLGRDQVASVFYTIV	FTYLKPRKSYSLRRDQVASVFYTIV	1.0	3.0	-	-	4202_11:55873323-55873323 G>A_FTYLKPRKSYSLRRDQVASVFYTIV
20:35737058-35737058 G>A	0.0	4202	MELANOMA	-	-	-	-	MROH8	ENST00000400441,p.S975L|ENST00000217333,p.S804L|uc002xgk.3,p.S607L	protein_coding, processed_transcript	uc002xgk.3	nonsynonymous SNV	exon15	c.C1820T	p.S607L	IRRSAVLFVGLLSKYMDHNELRRMG	IRRSAVLFVGLLLKYMDHNELRRMG	5.0	9.0	-	-	4202_20:35737058-35737058 G>A_IRRSAVLFVGLLLKYMDHNELRRMG
2:102493600-102493600 C>T	1.0	4202	MELANOMA	-	-	-	-	MAP4K4	ENST00000350198,p.T900I|NM_001242559,p.T981I|uc010yvz.2,p.T1021I|ENST00000324219,p.T1062I|uc010yvy.2,p.T977I|ENST00000456652,p.T780I|uc002tbg.3,p.T981I|NM_004834,p.T899I|uc002tbf.3,p.T1015I|uc021vlq.1,p.T167I|uc002tbd.3,p.T954I|ENST00000347699,p.T981I|uc002tbk.3,p.T436I|ENST00000417294,p.T912I|ENST00000425019,p.T1014I|ENST00000350878,p.T1021I|ENST00000413150,p.T896I|uc002tbc.3,p.T1062I|NM_145687,p.T954I|uc002tbl.3,p.T167I|NM_001242560,p.T977I|uc002tbi.3,p.T784I|ENST00000302217,p.T784I|NM_145686,p.T1015I|uc002tbh.3,p.T899I	retained_intron, protein_coding, processed_transcript	uc021vlq.1	nonsynonymous SNV	exon10	c.C500T	p.T167I	QMDVLEGLNVLVTISGKKDKLRVYY	QMDVLEGLNVLVIISGKKDKLRVYY	10.0	4.0	-	-	4202_2:102493600-102493600 C>T_QMDVLEGLNVLVIISGKKDKLRVYY
7:98543405-98543405 ->C	0.0	4202	MELANOMA	-	-	-	1	TRRAP	ENST00000359863,p.S1503fs|NM_001244580,p.S1503fs|uc003upr.3,p.S1195fs|uc003upp.3,p.S1503fs	retained_intron, protein_coding	uc003upr.3	frameshift insertion	exon22	c.3586dupC	p.S1195fs	NESISECGRCPLSPFCQFEPAMEGV	NESISECGRCPLSPILSV	7.0	2.0	unscreened	-	4202_7:98543405-98543405 ->C_NESISECGRCPLSPILSV
12:124358213-124358213 G>A	0.0	4202	MELANOMA	-	-	-	-	DNAH10	uc001uft.4,p.G2514R|NM_207437,p.G2514R|ENST00000409039,p.G2514R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon45	c.G7540A	p.G2514R	EKRTKDTYGPPMGKRLLVFMDDMNM	EKRTKDTYGPPMRKRLLVFMDDMNM	2.0	8.0	-	-	4202_12:124358213-124358213 G>A_EKRTKDTYGPPMRKRLLVFMDDMNM
6:29054185-29054185 T>G	0.0	4202	MELANOMA	-	-	-	-	OR2B3	ENST00000377173,p.I281L|uc003nlx.3,p.I281L|NM_001005226,p.I281L	protein_coding	uc003nlx.3	nonsynonymous SNV	exon1	c.A841C	p.I281L	DWGKMVSLFYGIITSMLNSLIYSLR	DWGKMVSLFYGILTSMLNSLIYSLR	1.0	9.0	-	-	4202_6:29054185-29054185 T>G_DWGKMVSLFYGILTSMLNSLIYSLR
19:36216413-36216413 C>T	1.0	4202	MELANOMA	-	-	-	-	KMT2B	ENST00000420124,p.H1226Y|uc021usv.1,p.H1226Y|NM_014727,p.H1226Y|ENST00000222270,p.H1226Y	-	uc021usv.1	nonsynonymous SNV	exon12	c.C3676T	p.H1226Y	ELVFCQVCCDPFHPFCLEEAERPLP	ELVFCQVCCDPFYPFCLEEAERPLP	1.0	4.0	-	-	4202_19:36216413-36216413 C>T_ELVFCQVCCDPFYPFCLEEAERPLP
X:36322040-36322040 G>A	0.0	4202	MELANOMA	-	-	-	-	CXorf30	ENST00000378657,p.E129K|ENST00000378653,p.E414K|NM_001098843,p.E129K|uc011mkc.3,p.E129K	protein_coding	uc011mkc.3	nonsynonymous SNV	exon9	c.G385A	p.E129K	ETLKLQVTNSNPENFVLDINRKSQL	ETLKLQVTNSNPKNFVLDINRKSQL	1.0	10.0	-	-	4202_X:36322040-36322040 G>A_ETLKLQVTNSNPKNFVLDINRKSQL
15:91420416-91420416 C>T	1.0	4202	MELANOMA	-	-	-	-	FURIN	NM_002569,p.R185W|uc002bpu.1,p.R185W|ENST00000268171,p.R185W|NM_001289824,p.R185W|NM_001289823,p.R185W	retained_intron, protein_coding, nonsense_mediated_decay	uc002bpu.1	nonsynonymous SNV	exon6	c.C553T	p.R185W	FDVNDQDPDPQPRYTQMNDNRHGTR	FDVNDQDPDPQPWYTQMNDNRHGTR	8.0	9.0	-	-	4202_15:91420416-91420416 C>T_FDVNDQDPDPQPWYTQMNDNRHGTR
14:62462850-62462850 C>T	0.0	4202	MELANOMA	-	-	ID=COSM1300725,COSM1300724;OCCURENCE=1(urinary_tract)	-	SYT16	ENST00000555409,p.S38L|ENST00000446982,p.S38L|uc001xfu.1,p.S38L|ENST00000430451,p.S38L|NM_031914,p.S38L|uc010tsd.1,p.S38L	protein_coding, nonsense_mediated_decay	uc010tsd.1	nonsynonymous SNV	exon2	c.C113T	p.S38L	EALQQAGDMLSASLVNISKQDSKLS	EALQQAGDMLSALLVNISKQDSKLS	1.0	6.0	-	-	4202_14:62462850-62462850 C>T_EALQQAGDMLSALLVNISKQDSKLS
22:26294373-26294373 G>A	0.0	4202	MELANOMA	-	-	-	-	MYO18B	ENST00000536101,p.V1590I|ENST00000407587,p.V1591I|uc003aca.1,p.V1471I|ENST00000335473,p.V1590I|uc003abz.1,p.V1590I|NM_032608,p.V1590I|uc011akb.1,p.V1103I|uc011aka.1,p.V744I|uc010guz.1,p.V1470I|uc010guy.1,p.V1472I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akb.1	nonsynonymous SNV	exon25	c.G3307A	p.V1103I	CHHLTCDLEDTCVLLENQQSRNHEL	CHHLTCDLEDTCILLENQQSRNHEL	1.0	3.0	-	-	4202_22:26294373-26294373 G>A_CHHLTCDLEDTCILLENQQSRNHEL
10:61836192-61836192 C>T	0.0	4202	MELANOMA	-	-	-	-	ANK3	ENST00000280772,p.G1483R|uc001jky.3,p.G1483R|NM_020987,p.G1483R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.G4447A	p.G1483R	YLTEPGMIERSTGATRSLPTTYSYK	YLTEPGMIERSTRATRSLPTTYSYK	1.0	8.0	-	-	4202_10:61836192-61836192 C>T_YLTEPGMIERSTRATRSLPTTYSYK
1:248550983-248550983 G>A	0.0	4202	MELANOMA	-	-	-	-	OR2T6	NM_001005471,p.G25E|uc001iei.1,p.G25E|ENST00000355728,p.G25E	protein_coding	uc001iei.1	nonsynonymous SNV	exon1	c.G74A	p.G25E	TLMGLFTHNKCSGFFFGVICAVFFM	TLMGLFTHNKCSEFFFGVICAVFFM	1.0	4.0	-	-	4202_1:248550983-248550983 G>A_TLMGLFTHNKCSEFFFGVICAVFFM
11:62763260-62763260 G>A	0.0	4202	MELANOMA	-	-	ID=COSM109490;OCCURENCE=1(skin)	-	SLC22A8	NM_004254,p.S306F|NM_001184736,p.S183F|ENST00000535878,p.S183F|ENST00000311438,p.S306F|NM_001184732,p.S306F|ENST00000430500,p.S306F|uc010rmm.2,p.S215F|uc009yom.3,p.S183F|uc001nwo.3,p.S306F|NM_001184733,p.S215F|ENST00000336232,p.S306F|uc009yon.3,p.S306F|ENST00000545207,p.S215F|uc001nwp.2,p.S306F	retained_intron, protein_coding, processed_transcript	uc010rmm.2	nonsynonymous SNV	exon7	c.C644T	p.S215F	LEELKLNLQKEISLAKAKYTASDLF	LEELKLNLQKEIFLAKAKYTASDLF	1.0	6.0	-	-	4202_11:62763260-62763260 G>A_LEELKLNLQKEIFLAKAKYTASDLF
7:142919716-142919718 AGA>-	0.0	4202	MELANOMA	-	-	-	-	TAS2R40	ENST00000408947,p.182_183del|NM_176882,p.182_183del|uc011ksx.2,p.182_183del	protein_coding	uc011ksx.2	nonframeshift deletion	exon1	c.545_547del	p.182_183del	NSSIPIPSSNSTEKKYFSETNMVNL	NSSIPIPSSNSTEKYFSETNMVNLV	1.0	1.0	unscreened	-	4202_7:142919716-142919718 AGA>-_NSSIPIPSSNSTEKYFSETNMVNLV
20:10622208-10622208 G>A	1.0	4202	MELANOMA	-	-	-	-	JAG1	NM_000214,p.S939F|uc010gcd.1,p.S497F|ENST00000423891,p.S780F|uc002wnw.2,p.S939F|ENST00000254958,p.S939F	protein_coding, processed_transcript	uc010gcd.1	nonsynonymous SNV	exon15	c.C1490T	p.S497F	VHPCTGVGECRSSSLQPVKTKCTSD	VHPCTGVGECRSFSLQPVKTKCTSD	7.0	5.0	-	-	4202_20:10622208-10622208 G>A_VHPCTGVGECRSFSLQPVKTKCTSD
6:55145161-55145161 G>C	0.0	4202	MELANOMA	-	-	-	-	HCRTR2	NM_001526,p.V342L|uc003pcl.3,p.V342L|ENST00000370862,p.V342L	protein_coding	uc003pcl.3	nonsynonymous SNV	exon6	c.G1024C	p.V342L	FGMFAHTEDRETVYAWFTFSHWLVY	FGMFAHTEDRETLYAWFTFSHWLVY	1.0	9.0	-	-	4202_6:55145161-55145161 G>C_FGMFAHTEDRETLYAWFTFSHWLVY
1:181745324-181745324 G>A	0.0	4202	MELANOMA	-	-	-	-	CACNA1E	NM_000721,p.E1743K|NM_001205293,p.E1743K|ENST00000360108,p.E1724K|uc001gow.3,p.E1743K|uc009wxs.3,p.E1724K|uc001gox.1,p.E969K|NM_001205294,p.E1724K|ENST00000357570,p.E1694K|ENST00000358338,p.E1675K|ENST00000367567,p.E1350K|ENST00000526775,p.E1724K|ENST00000367573,p.E1743K|uc009wxt.3,p.E1743K|ENST00000367570,p.E1743K	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon38	c.G5227A	p.E1743K	RDSSILGPHHLDEFVRVWAEYDRAA	RDSSILGPHHLDKFVRVWAEYDRAA	2.0	8.0	-	-	4202_1:181745324-181745324 G>A_RDSSILGPHHLDKFVRVWAEYDRAA
11:44941437-44941437 G>A	0.0	4202	MELANOMA	-	-	-	-	TSPAN18	uc001mye.4,p.D168N|ENST00000340160,p.D168N|uc001myg.3,p.D168N|ENST00000533080,p.D103N|NM_130783,p.D168N|ENST00000520358,p.D168N	retained_intron, protein_coding	uc001myg.3	nonsynonymous SNV	exon5	c.G502A	p.D168N	FKFASVFRLLTLDSEEVPEACCRRE	FKFASVFRLLTLNSEEVPEACCRRE	5.0	5.0	-	-	4202_11:44941437-44941437 G>A_FKFASVFRLLTLNSEEVPEACCRRE
1:230979527-230979527 G>A	1.0	4202	MELANOMA	-	-	-	-	C1orf198	ENST00000522201,p.S124F|NM_001136494,p.S129F|uc001hub.3,p.S167F|NM_032800,p.S167F|NM_001136495,p.S37F|uc009xfh.2,p.S37F|ENST00000523410,p.S37F|ENST00000470540,p.S129F|uc001hud.2,p.S129F|ENST00000366663,p.S167F	retained_intron, protein_coding	uc009xfh.2	nonsynonymous SNV	exon3	c.C110T	p.S37F	LSKASQGSQALKSSQGSRSSSLDAL	LSKASQGSQALKFSQGSRSSSLDAL	7.0	6.0	-	-	4202_1:230979527-230979527 G>A_LSKASQGSQALKFSQGSRSSSLDAL
X:150349749-150349749 C>T	0.0	4202	MELANOMA	-	-	-	-	GPR50	NM_004224,p.S565F|uc010ntg.2,p.S565F|ENST00000218316,p.S565F	protein_coding	uc010ntg.2	nonsynonymous SNV	exon2	c.C1694T	p.S565F	PVSDDSDLPESASSPAAGPTKPAAS	PVSDDSDLPESAFSPAAGPTKPAAS	1.0	10.0	-	-	4202_X:150349749-150349749 C>T_PVSDDSDLPESAFSPAAGPTKPAAS
19:7056595-7056595 G>A	0.0	4202	MELANOMA	-	-	-	-	MBD3L3	uc021uns.1,p.T122M|ENST00000333843,p.T122M|NM_001164425,p.T122M	protein_coding	uc021uns.1	nonsynonymous SNV	exon2	c.C365T	p.T122M	HLESVLSILAPGTAGESLDRAGAER	HLESVLSILAPGMAGESLDRAGAER	1.0	1.0	unscreened	-	4202_19:7056595-7056595 G>A_HLESVLSILAPGMAGESLDRAGAER
14:102659805-102659805 C>A	0.0	4202	MELANOMA	-	-	-	-	WDR20	ENST00000424963,p.S18Y	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000424963	nonsynonymous SNV	exon2	c.C53A	p.S18Y	CTSISTRGSARQSHERLIDKSRVTC	CTSISTRGSARQYHERLIDKSRVTC	7.0	3.0	-	-	4202_14:102659805-102659805 C>A_CTSISTRGSARQYHERLIDKSRVTC
3:38763850-38763850 C>T	0.0	4202	MELANOMA	-	-	ID=COSM1692566;OCCURENCE=1(skin)	-	SCN10A	ENST00000449082,p.D1136N|uc003ciq.3,p.D1136N|NM_001293306,p.D1135N|NM_001293307,p.D1038N|NM_006514,p.D1136N	protein_coding	uc003ciq.3	nonsynonymous SNV	exon19	c.G3406A	p.D1136N	PCCKLDTTKSPWDVGWQVRKTCYRI	PCCKLDTTKSPWNVGWQVRKTCYRI	1.0	9.0	-	-	4202_3:38763850-38763850 C>T_PCCKLDTTKSPWNVGWQVRKTCYRI
17:64880680-64880680 G>A	0.0	4202	MELANOMA	-	-	ID=COSM227903;OCCURENCE=1(NS)	-	CACNG5	uc010wqi.2,p.D158N|ENST00000307139,p.D158N|NM_145811,p.D158N|ENST00000533854,p.D158N|uc010wqj.2,p.D158N|ENST00000169565,p.D158N	protein_coding	uc010wqj.2	nonsynonymous SNV	exon4	c.G472A	p.D158N	VVGLVLYISSINDEMLNRTKDAETY	VVGLVLYISSINNEMLNRTKDAETY	1.0	4.0	-	-	4202_17:64880680-64880680 G>A_VVGLVLYISSINNEMLNRTKDAETY
1:160811138-160811138 T>C	0.0	4202	MELANOMA	-	-	-	-	CD244	NM_001166663,p.T178A|ENST00000368032,p.T173A|ENST00000492063,p.T173A|ENST00000368033,p.T178A|uc009wtq.3,p.T178A|NM_016382,p.T173A|uc001fxa.3,p.T173A|ENST00000368034,p.T173A	protein_coding, processed_transcript, nonsense_mediated_decay	uc009wtq.3	nonsynonymous SNV	exon3	c.A532G	p.T178A	SYAWYRGSKLIQTAGNLTYLDEEVD	SYAWYRGSKLIQAAGNLTYLDEEVD	2.0	3.0	-	-	4202_1:160811138-160811138 T>C_SYAWYRGSKLIQAAGNLTYLDEEVD
11:36614751-36614751 C>T	0.0	4202	MELANOMA	-	-	ID=COSM106672;OCCURENCE=2(skin)	-	RAG2	uc021qgc.1,p.G323E|uc021qgd.1,p.G323E|NM_000536,p.G323E|NM_001243785,p.G323E|NM_001243786,p.G323E|uc021qge.1,p.G323E|uc001mwv.4,p.G323E|ENST00000311485,p.G323E	protein_coding, processed_transcript	uc021qge.1	nonsynonymous SNV	exon1	c.G968A	p.G323E	IKHSKIWFGSNMGNGTVFLGIPGDN	IKHSKIWFGSNMENGTVFLGIPGDN	1.0	9.0	-	-	4202_11:36614751-36614751 C>T_IKHSKIWFGSNMENGTVFLGIPGDN
11:1156199-1156199 G>A	0.0	4202	MELANOMA	-	-	-	-	MUC2,MUC5B	uc021qbr.1,p.S175N|ENST00000534821,p.S175N	protein_coding, processed_transcript	uc021qbr.1	nonsynonymous SNV	exon5	c.G524A	p.S175N	FSQSGVLIQQSSSYTKVEARLGLVL	FSQSGVLIQQSSNYTKVEARLGLVL	1.0	2.0	-	-	4202_11:1156199-1156199 G>A_FSQSGVLIQQSSNYTKVEARLGLVL
3:97596635-97596635 G>A	0.0	4202	MELANOMA	-	-	-	-	CRYBG3	NM_153605,p.M2199I|uc021xbn.2,p.M2199I|ENST00000182096,p.M251I	protein_coding, processed_transcript	uc021xbn.2	nonsynonymous SNV	exon4	c.G6597A	p.M2199I	QESVGISKNSYVMPNEPTTSNLQVG	QESVGISKNSYVIPNEPTTSNLQVG	6.0	1.0	-	-	4202_3:97596635-97596635 G>A_QESVGISKNSYVIPNEPTTSNLQVG
10:75051191-75051191 C>T	0.0	4202	MELANOMA	-	-	-	-	CFAP70	ENST00000401621,p.E748K|NM_145170,p.E748K|ENST00000355577,p.E217K|uc009xrc.3,p.E748K|ENST00000310715,p.E748K|ENST00000433268,p.E155K|uc001jtx.3,p.E129K|ENST00000394865,p.E748K|uc001jty.3,p.E748K	protein_coding, processed_transcript	uc009xrc.3	nonsynonymous SNV	exon20	c.G2242A	p.E748K	NVVAWTLLGLYYEIQNNDIRMEMAF	NVVAWTLLGLYYKIQNNDIRMEMAF	3.0	6.0	-	-	4202_10:75051191-75051191 C>T_NVVAWTLLGLYYKIQNNDIRMEMAF
17:78445576-78445576 G>A	0.0	4202	MELANOMA	-	-	-	-	NPTX1	NM_002522,p.H345Y|uc002jyp.1,p.H345Y|ENST00000306773,p.H345Y	retained_intron, protein_coding, processed_transcript	uc002jyp.1	nonsynonymous SNV	exon4	c.C1033T	p.H345Y	TQGGSGENLAPYHPIKPQGVLVLGQ	TQGGSGENLAPYYPIKPQGVLVLGQ	2.0	9.0	-	-	4202_17:78445576-78445576 G>A_TQGGSGENLAPYYPIKPQGVLVLGQ
16:76461359-76461359 G>A	0.0	4202	MELANOMA	-	-	ID=COSM1709407,COSM1709408,COSM1709406;OCCURENCE=1(skin)	-	CNTNAP4	uc002few.2,p.G109E|NM_138994,p.G109E|uc010chb.1,p.G109E|uc002fev.1,p.G46E|ENST00000377504,p.G133E|ENST00000307431,p.G133E|ENST00000476707,p.G137E|ENST00000478060,p.G109E|uc002fex.1,p.G137E	retained_intron, protein_coding, processed_transcript, TEC	uc010chb.1	nonsynonymous SNV	exon4	c.G326A	p.G109E	QYRQEDSIWGFSGNANADSVVYYRL	QYRQEDSIWGFSENANADSVVYYRL	5.0	6.0	-	-	4202_16:76461359-76461359 G>A_QYRQEDSIWGFSENANADSVVYYRL
X:82763759-82763759 G>A	0.0	4202	MELANOMA	-	-	-	-	POU3F4	uc004eeg.2,p.G143S|ENST00000373200,p.G143S|NM_000307,p.G143S	protein_coding	uc004eeg.2	nonsynonymous SNV	exon1	c.G427A	p.G143S	LNVYSQPGFTVSGMLEHGGLTPPPA	LNVYSQPGFTVSSMLEHGGLTPPPA	1.0	10.0	-	-	4202_X:82763759-82763759 G>A_LNVYSQPGFTVSSMLEHGGLTPPPA
11:5153076-5153076 C>T	0.0	4202	MELANOMA	-	-	-	-	OR52A5	uc010qyx.2,p.R266K|ENST00000307388,p.R266K|NM_001005160,p.R266K	protein_coding	uc010qyx.2	nonsynonymous SNV	exon1	c.G797A	p.R266K	FYLLAFFSFFTHRFGSHIPPYIHIL	FYLLAFFSFFTHKFGSHIPPYIHIL	1.0	4.0	-	-	4202_11:5153076-5153076 C>T_FYLLAFFSFFTHKFGSHIPPYIHIL
16:84486789-84486789 G>A	1.0	4202	MELANOMA	-	-	-	-	ATP2C2	uc002fhz.3,p.G475E|uc002fhy.3,p.G643E|uc010chj.3,p.G626E|NM_014861,p.G626E|ENST00000262429,p.G626E|uc002fhx.3,p.G626E|NM_001286527,p.G626E|ENST00000416219,p.G626E|NM_001291454,p.G475E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc010chj.3	nonsynonymous SNV	exon19	c.G1877A	p.G626E	IGLCNGKLQAMSGEEVDSVEKGELA	IGLCNGKLQAMSEEEVDSVEKGELA	2.0	5.0	-	-	4202_16:84486789-84486789 G>A_IGLCNGKLQAMSEEEVDSVEKGELA
7:96636982-96636982 G>A	0.0	4202	MELANOMA	-	-	-	-	DLX6	ENST00000555308,p.E29K|ENST00000007660,p.E129K|ENST00000518156,p.E157K|uc022ahu.1,p.E157K|NM_005222,p.E157K	protein_coding, processed_transcript	uc022ahu.1	nonsynonymous SNV	exon2	c.G469A	p.E157K	TDQQKTTVIENGEIRFNGKGKKIRK	TDQQKTTVIENGKIRFNGKGKKIRK	1.0	10.0	-	-	4202_7:96636982-96636982 G>A_TDQQKTTVIENGKIRFNGKGKKIRK
2:131520993-131520993 G>A	0.0	4202	MELANOMA	-	-	ID=COSM226508;OCCURENCE=1(skin)	-	AMER3	ENST00000423981,p.G450R|uc021voy.1,p.G450R|NM_152698,p.G450R|uc010fmv.2,p.G450R|NM_001105195,p.G450R|NM_001105194,p.G450R|uc010fmt.1,p.G450R|uc010fmu.1,p.G450R|uc002trw.2,p.G450R|ENST00000321420,p.G450R|uc010fms.1,p.G450R|NM_001105193,p.G450R	protein_coding	uc021voy.1	nonsynonymous SNV	exon1	c.G1348A	p.G450R	PDDDLCVSESLSGPALGTPLSICSF	PDDDLCVSESLSRPALGTPLSICSF	1.0	9.0	-	-	4202_2:131520993-131520993 G>A_PDDDLCVSESLSRPALGTPLSICSF
2:11053199-11053199 G>A	0.0	4202	MELANOMA	-	-	-	-	KCNF1	uc002rax.3,p.R216H|ENST00000295082,p.R216H|NM_002236,p.R216H	protein_coding	uc002rax.3	nonsynonymous SNV	exon1	c.G647A	p.R216H	IPELQVLDAEGNRVEHPTLENVETA	IPELQVLDAEGNHVEHPTLENVETA	1.0	5.0	-	-	4202_2:11053199-11053199 G>A_IPELQVLDAEGNHVEHPTLENVETA
7:35288368-35288368 C>T	0.0	4202	MELANOMA	-	-	-	-	TBX20	uc011kas.2,p.D156N|NM_001077653,p.D156N|ENST00000408931,p.D156N|NM_001166220,p.D156N	retained_intron, protein_coding	uc011kas.2	nonsynonymous SNV	exon3	c.G466A	p.D156N	AKYIVLMDIVPVDNKRYRYAYHRSS	AKYIVLMDIVPVNNKRYRYAYHRSS	1.0	2.0	-	-	4202_7:35288368-35288368 C>T_AKYIVLMDIVPVNNKRYRYAYHRSS
5:54327454-54327454 C>T	0.0	4202	MELANOMA	-	-	-	-	GZMK	uc003jpl.1,p.S209F|ENST00000231009,p.S209F|NM_002104,p.S209F	retained_intron, protein_coding	uc003jpl.1	nonsynonymous SNV	exon4	c.C626T	p.S209F	MVCAGDAKGQKDSCKGDSGGPLICK	MVCAGDAKGQKDFCKGDSGGPLICK	5.0	10.0	-	-	4202_5:54327454-54327454 C>T_MVCAGDAKGQKDFCKGDSGGPLICK
15:21051190-21051190 G>A	0.0	4202	MELANOMA	-	-	-	-	POTEB,POTEB2,POTEB3	ENST00000454856,p.P424S|NM_001277303,p.P424S|NM_001277304,p.P424S	protein_coding	NM_001277304	nonsynonymous SNV	exon9	c.C1270T	p.P424S	QRKSRKPENQQFPDTENEEYHSDEQ	QRKSRKPENQQFSDTENEEYHSDEQ	1.0	1.0	-	-	4202_15:21051190-21051190 G>A_QRKSRKPENQQFSDTENEEYHSDEQ
7:147964207-147964207 G>A	0.0	4202	MELANOMA	-	-	-	2	CNTNAP2	uc003weu.2,p.G1155E|ENST00000361727,p.G1155E|NM_014141,p.G1155E|ENST00000538075,p.G214E	protein_coding, processed_transcript	uc003weu.2	nonsynonymous SNV	exon21	c.G3464A	p.G1155E	DTLFNSPKSLFLGKVIETGKIDQEI	DTLFNSPKSLFLEKVIETGKIDQEI	1.0	2.0	-	-	4202_7:147964207-147964207 G>A_DTLFNSPKSLFLEKVIETGKIDQEI
X:106844160-106844160 T>C	0.0	4202	MELANOMA	-	-	-	-	FRMPD3	uc022cce.1,p.V53A|ENST00000276185,p.V997A|ENST00000439554,p.V945A|NM_032428,p.V997A	protein_coding, processed_transcript	uc022cce.1	nonsynonymous SNV	exon1	c.T158C	p.V53A	TPAIISAALQQVVHNKSLVTAGGAL	TPAIISAALQQVAHNKSLVTAGGAL	1.0	10.0	-	-	4202_X:106844160-106844160 T>C_TPAIISAALQQVAHNKSLVTAGGAL
15:41862840-41862840 C>G	0.0	4202	MELANOMA	-	-	-	-	TYRO3	NM_006293,p.L508V|uc001zof.2,p.L508V|ENST00000263798,p.L508V|ENST00000559066,p.L463V	retained_intron, protein_coding, nonsense_mediated_decay	uc001zof.2	nonsynonymous SNV	exon12	c.C1522G	p.L508V	DSLGISDELKEKLEDVLIPEQQFTL	DSLGISDELKEKVEDVLIPEQQFTL	10.0	2.0	-	-	4202_15:41862840-41862840 C>G_DSLGISDELKEKVEDVLIPEQQFTL
10:19569089-19569089 G>A	0.0	4202	MELANOMA	-	-	-	-	MALRD1	NM_001142308,p.E1065K|ENST00000454679,p.E361K|ENST00000377266,p.E374K	protein_coding, processed_transcript	NM_001142308	nonsynonymous SNV	exon20	c.G3193A	p.E1065K	NEFICRSDGHCIEKMQKCDFKYDCP	NEFICRSDGHCIKKMQKCDFKYDCP	1.0	10.0	-	-	4202_10:19569089-19569089 G>A_NEFICRSDGHCIKKMQKCDFKYDCP
11:51515445-51515445 C>T	0.0	4202	MELANOMA	-	-	ID=COSM1719792;OCCURENCE=2(NS)	-	OR4C46	ENST00000328188,p.S55F|NM_001004703,p.S55F|uc010ric.2,p.S55F	protein_coding	uc010ric.2	nonsynonymous SNV	exon1	c.C164T	p.S55F	IVVTITASPSLGSPMYLSLAYLSFI	IVVTITASPSLGFPMYLSLAYLSFI	1.0	5.0	-	-	4202_11:51515445-51515445 C>T_IVVTITASPSLGFPMYLSLAYLSFI
2:196741323-196741323 G>A	0.0	4202	MELANOMA	-	-	-	-	DNAH7	ENST00000312428,p.S2021L|uc002utj.4,p.S2021L|NM_018897,p.S2021L	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon37	c.C6062T	p.S2021L	QTTAAQTQNIVMSKLDKRRKGVFGP	QTTAAQTQNIVMLKLDKRRKGVFGP	5.0	5.0	-	-	4202_2:196741323-196741323 G>A_QTTAAQTQNIVMLKLDKRRKGVFGP
20:61444861-61444861 G>T	1.0	4202	MELANOMA	-	-	-	-	OGFR	NM_007346,p.D632Y|uc002ydl.3,p.D580Y|ENST00000370461,p.D580Y|uc002ydj.3,p.D632Y|uc002ydk.3,p.D615Y|ENST00000290291,p.D632Y	protein_coding	uc002ydl.3	nonsynonymous SNV	exon5	c.G1738T	p.D580Y	ETPGPRPAGPAGDEPAESPSETPGP	ETPGPRPAGPAGYEPAESPSETPGP	9.0	6.0	-	-	4202_20:61444861-61444861 G>T_ETPGPRPAGPAGYEPAESPSETPGP
7:141920174-141920174 G>T	0.0	4202	MELANOMA	-	-	-	-	LOC93432	NM_001293626,p.A1955S|ENST00000477922,p.A1955S	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon48	c.G5863T	p.A1955S	CFATSTIGVTTNATVPDTTAPFPTN	CFATSTIGVTTNSTVPDTTAPFPTN	1.0	1.0	unscreened	-	4202_7:141920174-141920174 G>T_CFATSTIGVTTNSTVPDTTAPFPTN
6:72892379-72892379 C>T	0.0	4202	MELANOMA	-	-	-	-	RIMS1	uc003pga.4,p.A402V|uc011dyb.2,p.A28V|uc003pgc.3,p.A28V|ENST00000522291,p.A402V|ENST00000518273,p.A402V|ENST00000264839,p.A402V|ENST00000517960,p.A402V|ENST00000520567,p.A402V|uc003pgb.4,p.A28V|NM_014989,p.A402V|ENST00000521978,p.A402V|ENST00000348717,p.A402V|ENST00000491071,p.A402V	retained_intron, protein_coding, processed_transcript	uc011dyb.2	nonsynonymous SNV	exon1	c.C83T	p.A28V	HSDVALPRTEAGAALPEGKAGKRAP	HSDVALPRTEAGVALPEGKAGKRAP	1.0	1.0	-	-	4202_6:72892379-72892379 C>T_HSDVALPRTEAGVALPEGKAGKRAP
3:180370015-180370015 C>A	0.0	4202	MELANOMA	-	-	-	-	CCDC39	NM_181426,p.D324Y|ENST00000273654,p.D408Y|ENST00000442201,p.D324Y|ENST00000476379,p.D324Y|uc010hxe.3,p.D324Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hxe.3	nonsynonymous SNV	exon8	c.G970T	p.D324Y	DSLKATVNRTSSDLEALRKNISKIK	DSLKATVNRTSSYLEALRKNISKIK	4.0	1.0	-	-	4202_3:180370015-180370015 C>A_DSLKATVNRTSSYLEALRKNISKIK
X:48620249-48620249 G>A	0.0	4202	MELANOMA	-	-	-	-	GLOD5	NM_001080489,p.E19K|ENST00000303227,p.E19K|uc011mmh.2,p.E19K|uc004dko.1,p.E19K	protein_coding, processed_transcript	uc011mmh.2	nonsynonymous SNV	exon1	c.G55A	p.E19K	SRLPVKMWGRTLEKQSWRDSSQTPP	SRLPVKMWGRTLKKQSWRDSSQTPP	1.0	10.0	-	-	4202_X:48620249-48620249 G>A_SRLPVKMWGRTLKKQSWRDSSQTPP
6:70991113-70991113 G>A	0.0	4202	MELANOMA	-	-	-	-	COL9A1	NM_078485,p.P43S|uc003pff.4,p.P43S|ENST00000370496,p.P286S|ENST00000357250,p.P286S|ENST00000370499,p.P43S|uc003pfg.4,p.P286S|NM_001851,p.P286S|ENST00000320755,p.P43S	retained_intron, protein_coding, processed_transcript	uc003pfg.4	nonsynonymous SNV	exon8	c.C856T	p.P286S	QGPPGPPGPPGVPGIDGIDGDRGPK	QGPPGPPGPPGVSGIDGIDGDRGPK	1.0	10.0	-	-	4202_6:70991113-70991113 G>A_QGPPGPPGPPGVSGIDGIDGDRGPK
2:206614523-206614523 G>A	1.0	4202	MELANOMA	-	-	-	-	NRP2	uc002vaw.3,p.E621K|ENST00000357785,p.E621K|ENST00000357118,p.E621K|NM_201279,p.E621K|NM_003872,p.E621K|ENST00000272849,p.E621K|ENST00000360409,p.E621K|NM_201267,p.E621K|uc002vax.3,p.E621K|uc002vau.3,p.E621K|NM_201266,p.E621K|ENST00000540178,p.E621K|ENST00000540841,p.E621K|NM_018534,p.E621K|uc002vay.3,p.E621K|uc002vav.3,p.E621K|ENST00000412873,p.E621K	retained_intron, protein_coding, processed_transcript	uc002vay.3	nonsynonymous SNV	exon11	c.G1861A	p.E621K	KSEETTTPYPTEEEATECGENCSFE	KSEETTTPYPTEKEATECGENCSFE	10.0	8.0	-	-	4202_2:206614523-206614523 G>A_KSEETTTPYPTEKEATECGENCSFE
1:14059330-14059330 G>A	0.0	4202	MELANOMA	-	-	-	2	PRDM2	ENST00000484063,p.D62N	protein_coding, processed_transcript, nonsense_mediated_decay, ambiguous_orf	ENST00000484063	nonsynonymous SNV	exon4	c.G184A	p.D62N	ILKGKKFGPFVGDKKKRSQVYYPNL	ILKGKKFGPFVGNKKKRSQVYYPNL	6.0	1.0	unscreened	-	4202_1:14059330-14059330 G>A_ILKGKKFGPFVGNKKKRSQVYYPNL
1:14059330-14059330 G>A	0.0	4202	MELANOMA	-	-	-	2	PRDM2	uc001avg.3,p.D62N|NM_001135610,p.D62N|uc001avh.3,p.D62N|NM_012231,p.D62N|uc001avi.3,p.D62N|ENST00000311066,p.D62N|NM_015866,p.D62N|ENST00000235372,p.D62N|ENST00000376048,p.D62N	protein_coding, processed_transcript, nonsense_mediated_decay, ambiguous_orf	uc001avi.3	nonsynonymous SNV	exon4	c.G184A	p.D62N	ILKGKKFGPFVGDKKKRSQVKNNVY	ILKGKKFGPFVGNKKKRSQVKNNVY	6.0	1.0	unscreened	-	4202_1:14059330-14059330 G>A_ILKGKKFGPFVGNKKKRSQVKNNVY
19:42489308-42489308 C>T	0.0	4202	MELANOMA	-	-	-	-	ATP1A3	uc010xwg.2,p.G222D|uc010xwh.3,p.G265D|ENST00000602133,p.G222D|NM_001256214,p.G265D|uc010xwf.2,p.G263D|ENST00000302102,p.G252D|uc002osh.4,p.G252D|uc002osg.4,p.G252D|ENST00000543770,p.G263D|NM_001256213,p.G263D|NM_152296,p.G252D|ENST00000545399,p.G265D|ENST00000441343,p.G252D	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xwh.3	nonsynonymous SNV	exon8	c.G794A	p.G265D	VEGTARGVVVATGDRTVMGRIATLA	VEGTARGVVVATDDRTVMGRIATLA	1.0	2.0	-	-	4202_19:42489308-42489308 C>T_VEGTARGVVVATDDRTVMGRIATLA
9:27206583-27206583 G>A	0.0	4202	MELANOMA	-	-	-	-	TEK	NM_000459,p.E790K|uc003zqj.1,p.E724K|ENST00000380036,p.E790K|uc003zqi.4,p.E790K|uc011lno.2,p.E747K|ENST00000406359,p.E747K|NM_001290077,p.E747K	protein_coding, nonsense_mediated_decay	uc011lno.2	nonsynonymous SNV	exon14	c.G2239A	p.E747K	QRRMAQAFQNVREEPAVQFNSGTLA	QRRMAQAFQNVRKEPAVQFNSGTLA	5.0	3.0	-	-	4202_9:27206583-27206583 G>A_QRRMAQAFQNVRKEPAVQFNSGTLA
12:81627137-81627137 G>A	0.0	4202	MELANOMA	-	-	-	-	ACSS3	uc001szm.1,p.D535N|ENST00000548324,p.D218N|ENST00000261206,p.D535N|uc001szn.1,p.D218N|uc001szl.1,p.D536N|ENST00000548058,p.D536N|NM_024560,p.D536N	retained_intron, protein_coding, nonsense_mediated_decay	uc001szn.1	nonsynonymous SNV	exon8	c.G652A	p.D218N	KHLYFEKFPGYYDTMDAGYMDEEGY	KHLYFEKFPGYYNTMDAGYMDEEGY	3.0	5.0	-	-	4202_12:81627137-81627137 G>A_KHLYFEKFPGYYNTMDAGYMDEEGY
11:124056679-124056679 C>T	0.0	4202	MELANOMA	-	-	-	-	VWA5A,OR8G2	ENST00000318666,p.R235C|uc001pzv.2,p.R235C	protein_coding	uc001pzv.2	nonsynonymous SNV	exon1	c.C703T	p.R235C	ISILSIRTTEGRRRAFSTCSAHLIA	ISILSIRTTEGRCRAFSTCSAHLIA	1.0	9.0	-	-	4202_11:124056679-124056679 C>T_ISILSIRTTEGRCRAFSTCSAHLIA
9:130854363-130854363 C>T	0.0	4202	MELANOMA	-	-	-	-	SLC25A25	ENST00000432073,p.P72S|uc004btc.4,p.P72S|NM_001265614,p.P72S|uc004btd.4,p.P72S|NM_001006642,p.P72S|ENST00000373066,p.P72S	retained_intron, protein_coding, nonsense_mediated_decay	uc004btd.4	nonsynonymous SNV	exon1	c.C214T	p.P72S	TILLVVGPAEQFPKKIVQAGDKDLD	TILLVVGPAEQFSKKIVQAGDKDLD	8.0	3.0	-	-	4202_9:130854363-130854363 C>T_TILLVVGPAEQFSKKIVQAGDKDLD
3:129130111-129130111 C>T	0.0	4202	MELANOMA	-	-	-	-	EFCAB12	ENST00000326085,p.D309N|uc003emg.3,p.D309N|ENST00000505956,p.D309N|NM_207307,p.D309N	retained_intron, protein_coding	uc003emg.3	nonsynonymous SNV	exon5	c.G925A	p.D309N	QEVDSAPQLPKVDLLTVPAVDTQME	QEVDSAPQLPKVNLLTVPAVDTQME	2.0	8.0	-	-	4202_3:129130111-129130111 C>T_QEVDSAPQLPKVNLLTVPAVDTQME
16:70913330-70913330 C>T	0.0	4202	MELANOMA	-	-	-	-	HYDIN	ENST00000393567,p.R3476Q|uc031qwy.1,p.R3476Q|NM_001270974,p.R3476Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon62	c.G10427A	p.R3476Q	LVFDIAGEGNLPRVTVVRPVLHNQY	LVFDIAGEGNLPQVTVVRPVLHNQY	3.0	8.0	-	-	4202_16:70913330-70913330 C>T_LVFDIAGEGNLPQVTVVRPVLHNQY
18:61379812-61379812 G>A	0.0	4202	MELANOMA	-	-	-	-	SERPINB11	uc002ljk.4,p.G81E	protein_coding, processed_transcript, polymorphic_pseudogene	uc002ljk.4	nonsynonymous SNV	exon4	c.G242A	p.G81E	PGFKDSPKCSQAGRIHSEFGVEFSQ	PGFKDSPKCSQAERIHSEFGVEFSQ	1.0	7.0	-	-	4202_18:61379812-61379812 G>A_PGFKDSPKCSQAERIHSEFGVEFSQ
11:1156199-1156199 G>A	0.0	4202	MELANOMA	-	-	-	-	MUC2,MUC5B	ENST00000356191,p.A174T	protein_coding, processed_transcript	ENST00000356191	nonsynonymous SNV	exon7	c.G520A	p.A174T	LQPVWGPHSRAAATPRWRPGWALSS	LQPVWGPHSRAATTPRWRPGWALSS	1.0	2.0	-	-	4202_11:1156199-1156199 G>A_LQPVWGPHSRAATTPRWRPGWALSS
19:57175326-57175326 C>T	0.0	4202	MELANOMA	-	-	-	-	ZNF835	uc031rne.1,p.G414E|uc010ygn.2,p.G414E|ENST00000537055,p.G414E|NM_001005850,p.G414E	protein_coding	uc031rne.1	nonsynonymous SNV	exon1	c.G1241A	p.G414E	VSSLIEHQKIHTGERPYKCGECGKA	VSSLIEHQKIHTEERPYKCGECGKA	1.0	9.0	-	-	4202_19:57175326-57175326 C>T_VSSLIEHQKIHTEERPYKCGECGKA
10:55826569-55826569 C>T	0.0	4202	MELANOMA	-	-	-	-	PCDH15	ENST00000409834,p.R334K|NM_001142764,p.R723K|uc010qhw.1,p.R686K|NM_001142773,p.R701K|NM_001142767,p.R686K|uc001jjv.1,p.R701K|uc001jjw.3,p.R723K|uc021pqw.1,p.R735K|ENST00000373955,p.R723K|NM_001142766,p.R723K|uc010qhv.1,p.R723K|ENST00000414778,p.R728K|uc021pqy.1,p.R723K|uc021pqx.1,p.R723K|ENST00000395430,p.R723K|ENST00000373965,p.R730K|uc001jju.1,p.R723K|NM_001142765,p.R652K|ENST00000395445,p.R730K|ENST00000395433,p.R701K|ENST00000395432,p.R686K|uc010qht.2,p.R730K|uc010qib.1,p.R701K|uc010qhr.2,p.R723K|NM_001142768,p.R701K|uc021pqz.1,p.R701K|NM_033056,p.R723K|ENST00000320301,p.R723K|ENST00000373957,p.R701K|ENST00000395438,p.R723K|ENST00000437009,p.R652K|uc010qhz.1,p.R723K|ENST00000361849,p.R723K|NM_001142763,p.R728K|uc010qhx.1,p.R652K|uc021pqv.1,p.R723K|uc010qhq.2,p.R728K|uc010qia.1,p.R701K|uc010qhy.1,p.R728K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon16	c.G2102A	p.R701K	NDNAPVFDPYLPRNLSVVEEEANAF	NDNAPVFDPYLPKNLSVVEEEANAF	1.0	4.0	-	-	4202_10:55826569-55826569 C>T_NDNAPVFDPYLPKNLSVVEEEANAF
7:128489588-128489588 C>T	0.0	4202	MELANOMA	-	-	-	-	FLNC	NM_001127487,p.R1719C|uc003vnz.4,p.R1719C|ENST00000346177,p.R1719C|uc003voa.4,p.R1719C|ENST00000325888,p.R1719C|NM_001458,p.R1719C	retained_intron, protein_coding	uc003voa.4	nonsynonymous SNV	exon30	c.C5155T	p.R1719C	TAPEPGKYVITIRFGGEHIPNSPFH	TAPEPGKYVITICFGGEHIPNSPFH	3.0	2.0	-	-	4202_7:128489588-128489588 C>T_TAPEPGKYVITICFGGEHIPNSPFH
17:19316908-19316908 G>A	0.0	4202	MELANOMA	-	-	-	-	RNF112	ENST00000461366,p.D247N|uc010vyw.2,p.D247N|uc010vyx.1,p.D130N|NM_007148,p.D247N	retained_intron, protein_coding, processed_transcript	uc010vyx.1	nonsynonymous SNV	exon4	c.G388A	p.D130N	GKEGKKVAVFLVDTGDAMSPELSRE	GKEGKKVAVFLVNTGDAMSPELSRE	2.0	7.0	-	-	4202_17:19316908-19316908 G>A_GKEGKKVAVFLVNTGDAMSPELSRE
2:107039889-107039889 C>T	0.0	4202	MELANOMA	-	-	-	2	RGPD3	ENST00000409886,p.D1512N|ENST00000304514,p.D1512N|NM_001144013,p.D1512N|uc010ywi.1,p.D1512N	retained_intron, protein_coding	uc010ywi.1	nonsynonymous SNV	exon20	c.G4534A	p.D1512N	TTRERTDVIQGDDVADAASEVEVSS	TTRERTDVIQGDNVADAASEVEVSS	5.0	2.0	-	-	4202_2:107039889-107039889 C>T_TTRERTDVIQGDNVADAASEVEVSS
2:88828693-88828693 G>A	0.0	4202	MELANOMA	-	-	-	-	TEX37	ENST00000303254,p.G82R|NM_152670,p.G82R|uc002stb.2,p.G82R	protein_coding	uc002stb.2	nonsynonymous SNV	exon4	c.G244A	p.G82R	AFKRPHMTAKDLGLPGFFPSQEHEA	AFKRPHMTAKDLRLPGFFPSQEHEA	1.0	8.0	-	-	4202_2:88828693-88828693 G>A_AFKRPHMTAKDLRLPGFFPSQEHEA
11:93141545-93141545 G>A	0.0	4202	MELANOMA	-	-	-	-	CCDC67	ENST00000531448,p.G492E	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000531448	nonsynonymous SNV	exon12	c.G1475A	p.G492E	STWTNQNTYEETGRYAYQSQIKT	STWTNQNTYEETERYAYQSQIKT	1.0	3.0	unscreened	-	4202_11:93141545-93141545 G>A_STWTNQNTYEETERYAYQSQIKT
18:51795960-51795960 A>G	0.0	4202	MELANOMA	-	-	-	-	POLI	ENST00000406285,p.D15G|NM_007195,p.D15G|uc002lfj.4,p.D15G|ENST00000579534,p.D15G|uc010xds.2,p.D15G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xds.2	nonsynonymous SNV	exon1	c.A44G	p.D15G	KLGVEPEEEGGGDDDEEDAEAWAME	KLGVEPEEEGGGGDDEEDAEAWAME	7.0	1.0	-	-	4202_18:51795960-51795960 A>G_KLGVEPEEEGGGGDDEEDAEAWAME
3:36587755-36587755 C>T	0.0	4202	MELANOMA	-	-	-	-	STAC	ENST00000273183,p.P395S|uc003cgh.1,p.P395S|uc011aya.1,p.P334S|NM_003149,p.P395S|ENST00000457375,p.P334S|NM_001292049,p.P334S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aya.1	nonsynonymous SNV	exon9	c.C1000T	p.P334S	IRVLSGKKKGLIPLDVLENI	IRVLSGKKKGLISLDVLENI	4.0	3.0	-	-	4202_3:36587755-36587755 C>T_IRVLSGKKKGLISLDVLENI
11:93141545-93141545 G>A	0.0	4202	MELANOMA	-	-	-	-	CCDC67	ENST00000534747,p.G492E|ENST00000298050,p.G492E|uc001pdo.1,p.G492E|uc001pdq.3,p.G492E|NM_181645,p.G492E|ENST00000525646,p.G234E	protein_coding, processed_transcript, nonsense_mediated_decay	uc001pdq.3	nonsynonymous SNV	exon12	c.G1475A	p.G492E	STWTNQNTYEETGRYAYQSQIKVEQ	STWTNQNTYEETERYAYQSQIKVEQ	1.0	3.0	-	-	4202_11:93141545-93141545 G>A_STWTNQNTYEETERYAYQSQIKVEQ
14:76638188-76638188 G>T	0.0	4202	MELANOMA	-	-	-	-	GPATCH2L	uc001xsk.1,p.D244Y|ENST00000557263,p.D244Y|ENST00000261530,p.D244Y|uc001xsj.1,p.D244Y|NM_017926,p.D244Y|uc001xsi.3,p.D244Y|ENST00000556663,p.D244Y|ENST00000554375,p.D244Y|uc001xsh.3,p.D244Y|ENST00000312858,p.D244Y|NM_017972,p.D244Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xsk.1	nonsynonymous SNV	exon3	c.G730T	p.D244Y	TGLFTNDEGRQGDDEQSDWFYEGEC	TGLFTNDEGRQGYDEQSDWFYEGEC	7.0	9.0	-	-	4202_14:76638188-76638188 G>T_TGLFTNDEGRQGYDEQSDWFYEGEC
8:52252240-52252240 C>T	0.0	4202	MELANOMA	-	-	-	-	PXDNL	uc003xqu.4,p.D1364N|NM_144651,p.D1364N|ENST00000356297,p.D1364N	retained_intron, protein_coding, nonsense_mediated_decay	uc003xqu.4	nonsynonymous SNV	exon21	c.G4090A	p.D1364N	NVTVLAKTKFSQDFSTFAAEIQETI	NVTVLAKTKFSQNFSTFAAEIQETI	2.0	7.0	-	-	4202_8:52252240-52252240 C>T_NVTVLAKTKFSQNFSTFAAEIQETI
5:26902613-26902613 C>T	0.0	4202	MELANOMA	-	-	ID=COSM1067169;OCCURENCE=1(endometrium)	-	CDH9	uc003jgs.1,p.D409N|NM_016279,p.D409N|ENST00000231021,p.D409N	retained_intron, protein_coding	uc003jgs.1	nonsynonymous SNV	exon7	c.G1225A	p.D409N	KEGSIIGQVTAYDPDARNNLIKYSV	KEGSIIGQVTAYNPDARNNLIKYSV	1.0	7.0	-	-	4202_5:26902613-26902613 C>T_KEGSIIGQVTAYNPDARNNLIKYSV
17:73892888-73892888 C>T	0.0	4202	MELANOMA	-	-	-	-	TRIM65	NM_173547,p.G44E|NM_001256124,p.G44E|ENST00000269383,p.G44E|uc031rek.1,p.G44E|uc002jpx.4,p.G44E	retained_intron, protein_coding	uc031rek.1	nonsynonymous SNV	exon1	c.G131A	p.G44E	CGACIRDWWDRCGKACPECREPFPD	CGACIRDWWDRCEKACPECREPFPD	7.0	4.0	-	-	4202_17:73892888-73892888 C>T_CGACIRDWWDRCEKACPECREPFPD
4:156135579-156135579 G>A	0.0	4202	MELANOMA	-	-	-	-	NPY2R	NM_000910,p.R163Q|uc003ior.3,p.R163Q|uc003ioq.3,p.R163Q|ENST00000506608,p.R163Q|ENST00000329476,p.R163Q|uc021xtm.1,p.R163Q	protein_coding	uc021xtm.1	nonsynonymous SNV	exon1	c.G488A	p.R163Q	CIVYHLESKISKRISFLIIGLAWGI	CIVYHLESKISKQISFLIIGLAWGI	1.0	5.0	-	-	4202_4:156135579-156135579 G>A_CIVYHLESKISKQISFLIIGLAWGI
4:106156100-106156100 C>T	0.0	4202	MELANOMA	-	-	ID=COSM4005654,COSM4005655;OCCURENCE=1(urinary_tract)	1	TET2	uc011cez.2,p.S355F|uc010ilp.2,p.S334F|ENST00000380013,p.S334F|ENST00000265149,p.S334F|uc021xqk.1,p.S334F|uc021xql.1,p.S334F|NM_001127208,p.S334F|uc003hxk.3,p.S334F|ENST00000540549,p.S334F|ENST00000413648,p.S334F|NM_017628,p.S334F|ENST00000513237,p.S355F|ENST00000545826,p.S334F|ENST00000394764,p.S334F|ENST00000305737,p.S334F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xql.1	nonsynonymous SNV	exon1	c.C1001T	p.S334F	LQQQKSVFEICPSPAENNIQGTTKL	LQQQKSVFEICPFPAENNIQGTTKL	3.0	8.0	-	-	4202_4:106156100-106156100 C>T_LQQQKSVFEICPFPAENNIQGTTKL
15:23892388-23892388 G>A	0.0	4202	MELANOMA	-	-	-	-	MAGEL2	uc001ywj.4,p.P168S|NM_019066,p.P168S	protein_coding	uc001ywj.4	nonsynonymous SNV	exon1	c.C502T	p.P168S	GTPMAHPPPPGTPMAHPPPPGTPMV	GTPMAHPPPPGTSMAHPPPPGTPMV	5.0	3.0	-	-	4202_15:23892388-23892388 G>A_GTPMAHPPPPGTSMAHPPPPGTPMV
10:37422873-37422873 G>A	0.0	4202	MELANOMA	-	-	ID=COSM1505097;OCCURENCE=1(lung)	-	ANKRD30A	uc021ppc.1,p.G160E|ENST00000374660,p.G160E|ENST00000361713,p.G160E|ENST00000602533,p.G160E|uc001iza.1,p.G160E|NM_052997,p.G160E	protein_coding, processed_transcript	uc021ppc.1	nonsynonymous SNV	exon5	c.G479A	p.G160E	YKCTALMLAVCHGSSEIVGMLLQQN	YKCTALMLAVCHESSEIVGMLLQQN	1.0	7.0	-	-	4202_10:37422873-37422873 G>A_YKCTALMLAVCHESSEIVGMLLQQN
3:195509231-195509231 G>A	0.0	4202	MELANOMA	-	-	-	2	MUC4	ENST00000478156,p.P3074S|ENST00000463781,p.P3074S|uc021xjp.1,p.P3074S|ENST00000477756,p.P3074S|ENST00000470451,p.P3074S|ENST00000466475,p.P3074S|ENST00000479406,p.P3074S|ENST00000477086,p.P3074S|ENST00000462323,p.P3074S|ENST00000475231,p.P3074S|NM_018406,p.P3074S|ENST00000480843,p.P3074S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C9220T	p.P3074S	PSSASTGHATPLPVTDTSSASTGHA	PSSASTGHATPLSVTDTSSASTGHA	1.0	2.0	unscreened	-	4202_3:195509231-195509231 G>A_PSSASTGHATPLSVTDTSSASTGHA
19:36258727-36258727 C>A	0.0	4202	MELANOMA	-	-	-	-	PROSER3	NM_001039887,p.A327D|uc021usz.1,p.A327D|ENST00000396908,p.A327D|ENST00000544099,p.A327D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021usz.1	nonsynonymous SNV	exon9	c.C980A	p.A327D	ALRTLAESLKAKALPPAAGSVIRKS	ALRTLAESLKAKDLPPAAGSVIRKS	7.0	2.0	-	-	4202_19:36258727-36258727 C>A_ALRTLAESLKAKDLPPAAGSVIRKS
9:27206583-27206583 G>A	0.0	4202	MELANOMA	-	-	-	-	TEK	ENST00000519097,p.E642K|uc011lnp.2,p.E642K|NM_001290078,p.E642K	protein_coding, nonsense_mediated_decay	uc011lnp.2	nonsynonymous SNV	exon13	c.G1924A	p.E642K	VQRRMAQAFQNREEPAVQFNSGTLA	VQRRMAQAFQNRKEPAVQFNSGTLA	5.0	3.0	-	-	4202_9:27206583-27206583 G>A_VQRRMAQAFQNRKEPAVQFNSGTLA
4:74310837-74310837 G>A	0.0	4202	MELANOMA	-	-	-	-	AFP	uc011cbg.1,p.G55R|ENST00000395792,p.G281R|ENST00000226359,p.G281R|NM_001134,p.G281R|uc003hgz.1,p.G281R	retained_intron, protein_coding, processed_transcript	uc011cbg.1	nonsynonymous SNV	exon3	c.G163A	p.G55R	CCRGDVLDCLQDGEKIMSYICSQQD	CCRGDVLDCLQDREKIMSYICSQQD	1.0	6.0	-	-	4202_4:74310837-74310837 G>A_CCRGDVLDCLQDREKIMSYICSQQD
12:122359396-122359396 ->AGAGGAGGAGGAGAA	0.0	4202	MELANOMA	-	-	-	-	WDR66	ENST00000397454,p.G62delinsGEEEEK|NM_001178003,p.G62delinsGEEEEK|uc021rfh.1,p.G62delinsGEEEEK|NM_144668,p.G62delinsGEEEEK|uc009zxk.3,p.G62delinsGEEEEK|ENST00000288912,p.G62delinsGEEEEK	retained_intron, protein_coding, processed_transcript	uc021rfh.1	nonframeshift insertion	exon2	c.185_186insAGAGGAGGAGGAGAA	p.G62delinsGEEEEK	SQEEERKTGEEEGEEEGKEDKKIVM	SQEEERKTGEEEGEEEEKEEEGKED	6.0	1.0	unscreened	-	4202_12:122359396-122359396 ->AGAGGAGGAGGAGAA_SQEEERKTGEEEGEEEEKEEEGKED
15:79587198-79587198 G>A	0.0	4202	MELANOMA	-	-	-	-	ANKRD34C	ENST00000421388,p.M524I|uc021srm.1,p.M524I|ENST00000558647,p.M524I|uc002bet.3,p.M524I|NM_001146341,p.M524I	protein_coding	uc021srm.1	nonsynonymous SNV	exon1	c.G1572A	p.M524I	KLLRRHSMQIEQMKQLSDFEEIMT	KLLRRHSMQIEQIKQLSDFEEIMT	1.0	8.0	-	-	4202_15:79587198-79587198 G>A_KLLRRHSMQIEQIKQLSDFEEIMT
7:88965693-88965693 G>A	0.0	4202	MELANOMA	-	-	-	-	ZNF804B	uc011khi.2,p.E1133K|ENST00000333190,p.E1133K|NM_181646,p.E1133K	protein_coding	uc011khi.2	nonsynonymous SNV	exon4	c.G3397A	p.E1133K	TMQKPDKVEDGLEMCHKSISPPLIQ	TMQKPDKVEDGLKMCHKSISPPLIQ	1.0	2.0	-	-	4202_7:88965693-88965693 G>A_TMQKPDKVEDGLKMCHKSISPPLIQ
12:109293175-109293175 G>A	0.0	4202	MELANOMA	-	-	-	-	DAO	uc001tnq.4,p.R213Q|NM_001917,p.R279Q|ENST00000228476,p.R279Q|uc001tnr.4,p.R279Q|ENST00000551281,p.R213Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tnr.4	nonsynonymous SNV	exon10	c.G836A	p.R279Q	EPTLKNARIIGERTGFRPVRPQIRL	EPTLKNARIIGEQTGFRPVRPQIRL	1.0	4.0	-	-	4202_12:109293175-109293175 G>A_EPTLKNARIIGEQTGFRPVRPQIRL
4:25678342-25678342 G>A	0.0	4202	MELANOMA	-	-	-	1	SLC34A2	NM_001177999,p.D681N|uc003grs.3,p.D681N|NM_001177998,p.D681N|uc003grr.3,p.D682N|ENST00000503434,p.D681N|ENST00000382051,p.D682N|uc010iev.3,p.D681N|NM_006424,p.D682N|ENST00000504570,p.D681N	protein_coding, processed_transcript	uc010iev.3	nonsynonymous SNV	exon13	c.G2041A	p.D681N	ISREAQGEVPASDSKTECTAL	ISREAQGEVPASNSKTECTAL	1.0	9.0	-	-	4202_4:25678342-25678342 G>A_ISREAQGEVPASNSKTECTAL
11:122852324-122852324 G>A	0.0	4202	MELANOMA	-	-	-	-	BSX	NM_001098169,p.S19F|uc010rzs.2,p.S19F|ENST00000343035,p.S19F	protein_coding	uc010rzs.2	nonsynonymous SNV	exon1	c.C56T	p.S19F	SPLHPASSQRPTSFFIEDILLHKPK	SPLHPASSQRPTFFFIEDILLHKPK	1.0	8.0	-	-	4202_11:122852324-122852324 G>A_SPLHPASSQRPTFFFIEDILLHKPK
2:19553530-19553530 G>A	0.0	4202	MELANOMA	-	-	-	-	OSR1	uc002rdc.3,p.H13Y|ENST00000272223,p.H13Y|NM_145260,p.H13Y|ENST00000536433,p.H13Y	retained_intron, protein_coding, processed_transcript	uc002rdc.3	nonsynonymous SNV	exon2	c.C37T	p.H13Y	MGSKTLPAPVPIHPSLQLTNYSFLQ	MGSKTLPAPVPIYPSLQLTNYSFLQ	1.0	4.0	-	-	4202_2:19553530-19553530 G>A_MGSKTLPAPVPIYPSLQLTNYSFLQ
12:43847726-43847726 G>A	0.0	4202	MELANOMA	-	-	-	-	ADAMTS20	ENST00000389420,p.R582C|uc010skx.2,p.R582C|NM_025003,p.R582C|ENST00000553158,p.R582C	protein_coding	uc010skx.2	nonsynonymous SNV	exon12	c.C1744T	p.R582C	RTCGGGIESATRRCNRPEPRNGGNY	RTCGGGIESATRCCNRPEPRNGGNY	1.0	5.0	-	-	4202_12:43847726-43847726 G>A_RTCGGGIESATRCCNRPEPRNGGNY
1:118492437-118492437 G>A	1.0	4202	MELANOMA	-	-	-	-	WDR3	ENST00000349139,p.D530N|NM_006784,p.D530N|uc010oxe.1,p.D530N	protein_coding, processed_transcript	uc010oxe.1	nonsynonymous SNV	exon14	c.G1588A	p.D530N	KSVKFWDFELVKDENSTQKRLSVKQ	KSVKFWDFELVKNENSTQKRLSVKQ	8.0	6.0	-	-	4202_1:118492437-118492437 G>A_KSVKFWDFELVKNENSTQKRLSVKQ
1:159284038-159284038 C>T	0.0	4202	MELANOMA	-	-	-	-	OR10J3	NM_001004467,p.G138S|uc010piu.2,p.G138S|ENST00000332217,p.G138S	protein_coding	uc010piu.2	nonsynonymous SNV	exon1	c.G412A	p.G138S	AICNPLRYSVIMGKRACIQLASGSL	AICNPLRYSVIMSKRACIQLASGSL	1.0	5.0	-	-	4202_1:159284038-159284038 C>T_AICNPLRYSVIMSKRACIQLASGSL
7:100638729-100638729 G>A	0.0	4202	MELANOMA	-	-	-	-	MUC12	ENST00000536621,p.G1629S|uc003uxo.3,p.G1629S|NM_001164462,p.G1629S|ENST00000379442,p.G1772S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G4885A	p.G1629S	TLSPGSTTASSLGPESTTFHSSPGS	TLSPGSTTASSLSPESTTFHSSPGS	1.0	3.0	-	-	4202_7:100638729-100638729 G>A_TLSPGSTTASSLSPESTTFHSSPGS
7:127251688-127251688 C>T	0.0	4202	MELANOMA	-	-	-	-	PAX4	NM_006193,p.E264K|ENST00000341640,p.E264K|ENST00000463946,p.E262K|ENST00000378740,p.E264K|uc010lld.1,p.E264K|uc003vmg.1,p.E264K|uc003vmf.2,p.E262K	retained_intron, protein_coding	uc010lld.1	nonsynonymous SNV	exon8	c.G790A	p.E264K	PGSVPTAALPALEPLGPSCYQLCWA	PGSVPTAALPALKPLGPSCYQLCWA	1.0	2.0	-	-	4202_7:127251688-127251688 C>T_PGSVPTAALPALKPLGPSCYQLCWA
1:200878506-200878506 G>T	0.0	4202	MELANOMA	-	-	-	-	C1orf106	uc010ppm.2,p.G314C|uc001gvo.4,p.G413C|NM_001142569,p.G314C|ENST00000367342,p.G399C|NM_018265,p.G413C|ENST00000413687,p.G314C	protein_coding, processed_transcript	uc010ppm.2	nonsynonymous SNV	exon8	c.G940T	p.G314C	SAPATPEIQGRRGQSQSLRVDSFRA	SAPATPEIQGRRCQSQSLRVDSFRA	1.0	8.0	-	-	4202_1:200878506-200878506 G>T_SAPATPEIQGRRCQSQSLRVDSFRA
10:61834829-61834829 C>T	0.0	4202	MELANOMA	-	-	-	-	ANK3	NM_020987,p.G1937E|ENST00000280772,p.G1937E|uc001jky.3,p.G1937E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.G5810A	p.G1937E	EEKPFQPELPKEGRIDDEEPFKIVE	EEKPFQPELPKEERIDDEEPFKIVE	1.0	9.0	-	-	4202_10:61834829-61834829 C>T_EEKPFQPELPKEERIDDEEPFKIVE
7:127251688-127251688 C>T	0.0	4202	MELANOMA	-	-	-	-	PAX4	ENST00000338516,p.G253E	retained_intron, protein_coding	ENST00000338516	nonsynonymous SNV	exon8	c.G758A	p.G253E	PWQCAHSSPACPGTTGSLLLSAVLG	PWQCAHSSPACPETTGSLLLSAVLG	1.0	2.0	-	-	4202_7:127251688-127251688 C>T_PWQCAHSSPACPETTGSLLLSAVLG
2:179770091-179770091 C>A	0.0	4202	MELANOMA	-	-	-	-	CCDC141	ENST00000443758,p.K410N|ENST00000409284,p.K410N|ENST00000446116,p.K345N|uc002ung.3,p.K410N|NM_173648,p.K410N|uc002une.2,p.K410N|ENST00000420890,p.K410N	protein_coding, processed_transcript	uc002ung.3	nonsynonymous SNV	exon8	c.G1230T	p.K410N	RKIKDCTTDALQKGQTLISQVDSCS	RKIKDCTTDALQNGQTLISQVDSCS	1.0	6.0	-	-	4202_2:179770091-179770091 C>A_RKIKDCTTDALQNGQTLISQVDSCS
2:168100214-168100214 G>A	0.0	4202	MELANOMA	-	-	-	-	XIRP2	ENST00000409195,p.R771Q|NM_001199144,p.R549Q|uc010fpq.3,p.R549Q|uc002udx.3,p.R771Q|NM_152381,p.R771Q|uc002udy.3,p.R596Q|ENST00000295237,p.R771Q|ENST00000409273,p.R549Q	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G1646A	p.R549Q	REDVEKGDVRTARWMFETQPLDTIN	REDVEKGDVRTAQWMFETQPLDTIN	2.0	8.0	-	-	4202_2:168100214-168100214 G>A_REDVEKGDVRTAQWMFETQPLDTIN
16:71218869-71218869 C>T	0.0	4202	MELANOMA	-	-	ID=COSM140772,COSM140771;OCCURENCE=1(skin)	-	HYDIN	uc010vmd.2,p.E81K|ENST00000541601,p.E71K|NM_001198543,p.E71K|ENST00000393550,p.E54K|ENST00000448089,p.E54K|NM_001270974,p.E54K|ENST00000321489,p.E54K|uc031qwy.1,p.E54K|NM_017558,p.E54K|NM_001198542,p.E81K|ENST00000393567,p.E54K|uc010vmc.2,p.E71K|uc021tkq.2,p.E54K|uc002ezw.4,p.E71K|ENST00000288168,p.E71K|ENST00000448691,p.E54K|ENST00000538248,p.E81K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon3	c.G160A	p.E54K	VNRMLTPSEFLKEMSLTTEQRLAKT	VNRMLTPSEFLKKMSLTTEQRLAKT	3.0	6.0	-	-	4202_16:71218869-71218869 C>T_VNRMLTPSEFLKKMSLTTEQRLAKT
1:24746049-24746049 ->CA	0.0	4202	MELANOMA	-	-	-	-	NIPAL3	uc001bjh.3,p.S4fs|ENST00000339255,p.S4fs|uc010oek.2,p.S4fs|ENST00000428131,p.S4fs|ENST00000374399,p.S4fs|NM_020448,p.S4fs|ENST00000358028,p.S4fs	protein_coding, processed_transcript	uc010oek.2	frameshift insertion	exon2	c.12_13insCA	p.S4fs	MDGSHSAALKLQQLPP	MDGSHTAQP	7.0	2.0	unscreened	-	4202_1:24746049-24746049 ->CA_MDGSHTAQP
2:179594222-179594222 C>T	0.0	4202	MELANOMA	-	-	-	-	TTN	uc031rqd.1,p.E5904K|NM_001267550,p.E6221K|NM_133378,p.E4977K|uc031rqc.1,p.E6221K|uc002umz.1,p.E1638K|ENST00000591111,p.E5904K|NM_001256850,p.E5904K|uc021vsy.2,p.E4977K|ENST00000342992,p.E4977K|ENST00000589042,p.E6221K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon62	c.G17710A	p.E5904K	EVVKYSDVELECEVTGTPPFEVTWL	EVVKYSDVELECKVTGTPPFEVTWL	1.0	4.0	-	-	4202_2:179594222-179594222 C>T_EVVKYSDVELECKVTGTPPFEVTWL
19:38684391-38684391 C>T	0.0	4202	MELANOMA	-	-	-	-	SIPA1L3	uc002ohk.3,p.A1604V|NM_015073,p.A1604V|ENST00000222345,p.A1604V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ohk.3	nonsynonymous SNV	exon18	c.C4811T	p.A1604V	HPHPPVGPGATPAAGSGFPEKKSTI	HPHPPVGPGATPVAGSGFPEKKSTI	7.0	7.0	-	-	4202_19:38684391-38684391 C>T_HPHPPVGPGATPVAGSGFPEKKSTI
11:101775575-101775575 G>A	0.0	4202	MELANOMA	-	-	-	-	ANGPTL5	uc001pgl.3,p.P137S|ENST00000334289,p.P137S|NM_178127,p.P137S	protein_coding	uc001pgl.3	nonsynonymous SNV	exon5	c.C409T	p.P137S	LLTTEVFRKQLDPFPHRPVQSHGLD	LLTTEVFRKQLDSFPHRPVQSHGLD	1.0	7.0	-	-	4202_11:101775575-101775575 G>A_LLTTEVFRKQLDSFPHRPVQSHGLD
9:4585527-4585527 C>T	0.0	4202	MELANOMA	-	-	-	-	SLC1A1	uc003zij.2,p.T515I|NM_004170,p.T515I|ENST00000262352,p.T515I	protein_coding, processed_transcript	uc003zij.2	nonsynonymous SNV	exon12	c.C1544T	p.T515I	YVNGGFAVDKSDTISFTQTSQF	YVNGGFAVDKSDIISFTQTSQF	2.0	4.0	-	-	4202_9:4585527-4585527 C>T_YVNGGFAVDKSDIISFTQTSQF
15:73615327-73615327 C>T	0.0	4202	MELANOMA	-	-	-	-	HCN4	ENST00000261917,p.R1036K|NM_005477,p.R1036K|uc002avp.3,p.R1036K	protein_coding	uc002avp.3	nonsynonymous SNV	exon8	c.G3107A	p.R1036K	GLSPPGHSPGPPRTFPSAPPRASGS	GLSPPGHSPGPPKTFPSAPPRASGS	1.0	4.0	-	-	4202_15:73615327-73615327 C>T_GLSPPGHSPGPPKTFPSAPPRASGS
1:183259328-183259328 C>T	0.0	4202	MELANOMA	-	-	-	-	NMNAT2	uc001gqc.2,p.E86K|ENST00000294868,p.E81K|NM_170706,p.E81K|NM_015039,p.E86K|ENST00000287713,p.E86K|uc001gqb.2,p.E81K	protein_coding, processed_transcript	uc001gqc.2	nonsynonymous SNV	exon4	c.G256A	p.E86K	VQNSDWIRVDPWECYQDTWQTTCSV	VQNSDWIRVDPWKCYQDTWQTTCSV	1.0	8.0	-	-	4202_1:183259328-183259328 C>T_VQNSDWIRVDPWKCYQDTWQTTCSV
5:89968376-89968376 G>A	0.0	4202	MELANOMA	-	-	-	-	GPR98	uc003kju.3,p.G1589E|ENST00000405460,p.G1589E|NM_032119,p.G1589E	retained_intron, protein_coding, processed_transcript	uc003kju.3	nonsynonymous SNV	exon22	c.G4766A	p.G1589E	FTGACIPEIAEEGSTISCVVERTRG	FTGACIPEIAEEESTISCVVERTRG	1.0	5.0	-	-	4202_5:89968376-89968376 G>A_FTGACIPEIAEEESTISCVVERTRG
8:52323849-52323849 G>A	0.0	4202	MELANOMA	-	-	ID=COSM1222816;OCCURENCE=1(large_intestine)	-	PXDNL	NM_144651,p.R675C|uc003xqu.4,p.R675C|ENST00000543296,p.R675C|ENST00000356297,p.R675C	retained_intron, protein_coding, nonsense_mediated_decay	uc003xqu.4	nonsynonymous SNV	exon16	c.C2023T	p.R675C	EIFEHTLQLIRERVKQGLTVDLEGK	EIFEHTLQLIRECVKQGLTVDLEGK	2.0	4.0	-	-	4202_8:52323849-52323849 G>A_EIFEHTLQLIRECVKQGLTVDLEGK
15:23890878-23890878 G>A	0.0	4202	MELANOMA	-	-	-	-	MAGEL2	ENST00000532292,p.S68L|NM_019066,p.S671L|uc001ywj.4,p.S671L	protein_coding	uc001ywj.4	nonsynonymous SNV	exon1	c.C2012T	p.S671L	VQIQLPPQQAQASGPQAEVPTLPLQ	VQIQLPPQQAQALGPQAEVPTLPLQ	1.0	5.0	-	-	4202_15:23890878-23890878 G>A_VQIQLPPQQAQALGPQAEVPTLPLQ
6:46800919-46800919 G>A	0.0	4202	MELANOMA	-	-	-	-	MEP1A	uc011dwh.1,p.G446E|uc011dwg.1,p.G140E|ENST00000230588,p.G418E|uc011dwi.1,p.G318E|NM_005588,p.G418E|uc010jzh.1,p.G418E	protein_coding	uc011dwi.1	nonsynonymous SNV	exon9	c.G953A	p.G318E	QGTKGDPQNSTGGIYLDDITLTETP	QGTKGDPQNSTGEIYLDDITLTETP	1.0	8.0	-	-	4202_6:46800919-46800919 G>A_QGTKGDPQNSTGEIYLDDITLTETP
11:56086036-56086036 T>C	0.0	4202	MELANOMA	-	-	-	-	OR8K3	ENST00000312711,p.F85S|uc010rjf.2,p.F85S|NM_001005202,p.F85S	protein_coding	uc010rjf.2	nonsynonymous SNV	exon1	c.T254C	p.F85S	YSTTVGPKMLVNFVVDKNIISYYFC	YSTTVGPKMLVNSVVDKNIISYYFC	1.0	7.0	-	-	4202_11:56086036-56086036 T>C_YSTTVGPKMLVNSVVDKNIISYYFC
5:140573567-140573567 G>A	1.0	4202	MELANOMA	-	-	-	-	PCDHB10	ENST00000239446,p.G481D|NM_018930,p.G481D|uc003lix.3,p.G481D	protein_coding	uc003lix.3	nonsynonymous SNV	exon1	c.G1442A	p.G481D	HIGSVSATDRDSGTNAQVTYSLLPP	HIGSVSATDRDSDTNAQVTYSLLPP	5.0	3.0	-	-	4202_5:140573567-140573567 G>A_HIGSVSATDRDSDTNAQVTYSLLPP
1:158812100-158812100 G>A	0.0	4202	MELANOMA	-	-	-	-	MNDA	ENST00000368141,p.E53K|NM_002432,p.E53K|uc001fsz.1,p.E53K	protein_coding, processed_transcript	uc001fsz.1	nonsynonymous SNV	exon2	c.G157A	p.E53K	EEYNRIKITDLMEKKFQGVACLDKL	EEYNRIKITDLMKKKFQGVACLDKL	6.0	4.0	-	-	4202_1:158812100-158812100 G>A_EEYNRIKITDLMKKKFQGVACLDKL
9:125273778-125273778 G>A	0.0	4202	MELANOMA	-	-	-	-	OR1J2	uc011lyv.2,p.G233E|ENST00000335302,p.G233E|NM_054107,p.G233E|uc004bmj.2,p.G233E	protein_coding	uc011lyv.2	nonsynonymous SNV	exon1	c.G698A	p.G233E	IGATILRVPSTKGIHKALSTCGSHL	IGATILRVPSTKEIHKALSTCGSHL	1.0	6.0	-	-	4202_9:125273778-125273778 G>A_IGATILRVPSTKEIHKALSTCGSHL
4:37327621-37327621 G>A	0.0	4202	MELANOMA	-	-	-	-	NWD2	NM_001144990,p.R72K|ENST00000309447,p.R72K|uc011bxz.2,p.R72K	protein_coding	uc011bxz.2	nonsynonymous SNV	exon2	c.G215A	p.R72K	RENVYPKLREFCRENYGLEFQVIDL	RENVYPKLREFCKENYGLEFQVIDL	1.0	6.0	-	-	4202_4:37327621-37327621 G>A_RENVYPKLREFCKENYGLEFQVIDL
2:171573255-171573255 C>T	0.0	4202	MELANOMA	-	-	-	-	SP5	ENST00000375281,p.P180S|NM_001003845,p.P180S|uc002uge.3,p.P180S	protein_coding, processed_transcript	uc002uge.3	nonsynonymous SNV	exon2	c.C538T	p.P180S	PPPPPPTCRQLSPNPAPDDLPWWSI	PPPPPPTCRQLSSNPAPDDLPWWSI	4.0	3.0	-	-	4202_2:171573255-171573255 C>T_PPPPPPTCRQLSSNPAPDDLPWWSI
3:42728186-42728186 A>G	0.0	4202	MELANOMA	-	-	-	-	KLHL40	NM_152393,p.N359S|uc003clv.1,p.N359S|ENST00000287777,p.N359S	protein_coding	uc003clv.1	nonsynonymous SNV	exon1	c.A1076G	p.N359S	VPKNHVSLVTKENQVFVAGGLFYNE	VPKNHVSLVTKESQVFVAGGLFYNE	2.0	3.0	-	-	4202_3:42728186-42728186 A>G_VPKNHVSLVTKESQVFVAGGLFYNE
1:248201816-248201816 G>A	0.0	4202	MELANOMA	-	-	ID=COSM108069;OCCURENCE=1(skin)	-	OR2L2	uc001idw.3,p.D83N|NM_001004686,p.D83N|ENST00000366479,p.D83N	protein_coding	uc001idw.3	nonsynonymous SNV	exon1	c.G247A	p.D83N	NYISTIVPKMVYDFLYGNKSISFTG	NYISTIVPKMVYNFLYGNKSISFTG	1.0	5.0	-	-	4202_1:248201816-248201816 G>A_NYISTIVPKMVYNFLYGNKSISFTG
4:20620412-20620412 G>A	0.0	4202	MELANOMA	-	-	-	-	SLIT2	NM_004787,p.R1457K|uc003gpr.1,p.R1457K|uc003gps.1,p.R1449K|ENST00000504154,p.R1457K|NM_001289136,p.R1449K|ENST00000273739,p.R1470K|ENST00000503837,p.R1453K|NM_001289135,p.R1453K|ENST00000503823,p.R1449K	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon36	c.G4346A	p.R1449K	DSCDREISCRGERIRDYYQKQQGYA	DSCDREISCRGEKIRDYYQKQQGYA	5.0	4.0	-	-	4202_4:20620412-20620412 G>A_DSCDREISCRGEKIRDYYQKQQGYA
11:65416891-65416891 G>A	1.0	4202	MELANOMA	-	-	-	-	SIPA1	uc010rom.1,p.G720E|ENST00000534313,p.G822E|uc001ofb.2,p.G822E|ENST00000527525,p.G720E|ENST00000394227,p.G720E|uc001ofd.2,p.G822E|NM_006747,p.G822E|ENST00000394224,p.G822E	retained_intron, protein_coding	uc010rom.1	nonsynonymous SNV	exon11	c.G2159A	p.G720E	LCLQDGGSPPGPGDLAEERTEFLHS	LCLQDGGSPPGPEDLAEERTEFLHS	9.0	7.0	-	-	4202_11:65416891-65416891 G>A_LCLQDGGSPPGPEDLAEERTEFLHS
16:2867439-2867439 G>A	0.0	4202	MELANOMA	-	-	-	-	PRSS21	ENST00000570629,p.G22E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000570629	nonsynonymous SNV	exon2	c.G65A	p.G22E	AGSGWTQEAGVAGGGAVIRTMRPTG	AGSGWTQEAGVAEGGAVIRTMRPTG	3.0	5.0	-	-	4202_16:2867439-2867439 G>A_AGSGWTQEAGVAEGGAVIRTMRPTG
19:9087883-9087883 C>T	0.0	4202	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.G1311E|NM_024690,p.G1311E|uc002mkp.3,p.G1311E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G3932A	p.G1311E	YSSGSSPEMTAPGETNTGSTWDPTT	YSSGSSPEMTAPEETNTGSTWDPTT	1.0	8.0	-	-	4202_19:9087883-9087883 C>T_YSSGSSPEMTAPEETNTGSTWDPTT
13:99567595-99567595 C>T	0.0	4202	MELANOMA	-	-	-	-	DOCK9	uc010afu.1,p.D110N|NM_001130049,p.D295N|uc010tir.1,p.D295N|ENST00000448493,p.D306N|NM_001130050,p.D294N|uc010tit.1,p.D295N|uc010tis.1,p.D294N|uc001vnw.2,p.D294N|uc001vnt.2,p.D295N|ENST00000376460,p.D294N|ENST00000442173,p.D294N|ENST00000339416,p.D295N|uc021rlw.1,p.D294N	protein_coding, processed_transcript	uc021rlw.1	nonsynonymous SNV	exon8	c.G880A	p.D294N	NFEAAMQEKRNGDSHEDDEQSKLEG	NFEAAMQEKRNGNSHEDDEQSKLEG	9.0	3.0	-	-	4202_13:99567595-99567595 C>T_NFEAAMQEKRNGNSHEDDEQSKLEG
3:36888777-36888777 C>T	0.0	4202	MELANOMA	-	-	-	-	TRANK1	uc003cgj.3,p.E1606K|ENST00000428977,p.E1056K|NM_014831,p.E1606K|ENST00000301807,p.E1056K|ENST00000429976,p.E1606K	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon15	c.G4816A	p.E1606K	SSFTPTSTDSREENRPLVEVPLDKP	SSFTPTSTDSREKNRPLVEVPLDKP	5.0	7.0	-	-	4202_3:36888777-36888777 C>T_SSFTPTSTDSREKNRPLVEVPLDKP
5:64538014-64538014 C>T	0.0	4202	MELANOMA	-	-	-	-	ADAMTS6	uc003jtp.3,p.R617Q|ENST00000381055,p.R617Q|NM_197941,p.R617Q|uc003jto.4,p.R173Q|uc003jtr.1,p.R238Q|ENST00000464680,p.R617Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jtr.1	nonsynonymous SNV	exon14	c.G713A	p.R238Q	RSCNTDPCPLGSRDFREKQCADFDN	RSCNTDPCPLGSQDFREKQCADFDN	3.0	3.0	unscreened	-	4202_5:64538014-64538014 C>T_RSCNTDPCPLGSQDFREKQCADFDN
10:19780508-19780508 A>T	0.0	4202	MELANOMA	-	-	-	-	MALRD1	ENST00000377266,p.I1077F|NM_001142308,p.I1698F|ENST00000454679,p.I1064F	protein_coding, processed_transcript	NM_001142308	nonsynonymous SNV	exon30	c.A5092T	p.I1698F	EITDFLCRDKKCIASHLLCDYKPDC	EITDFLCRDKKCFASHLLCDYKPDC	1.0	6.0	-	-	4202_10:19780508-19780508 A>T_EITDFLCRDKKCFASHLLCDYKPDC
19:3178906-3178906 G>A	0.0	4202	MELANOMA	-	-	-	-	S1PR4	uc002lxg.3,p.G39E|ENST00000246115,p.G39E|NM_003775,p.G39E	protein_coding, processed_transcript	uc002lxg.3	nonsynonymous SNV	exon1	c.G116A	p.G39E	LHYNHSGRLAGRGGPEDGGLGALRG	LHYNHSGRLAGREGPEDGGLGALRG	4.0	7.0	-	-	4202_19:3178906-3178906 G>A_LHYNHSGRLAGREGPEDGGLGALRG
4:74310838-74310838 G>T	0.0	4202	MELANOMA	-	-	-	-	AFP	NM_001134,p.G281V|ENST00000226359,p.G281V|ENST00000395792,p.G281V|uc003hgz.1,p.G281V|uc011cbg.1,p.G55V	retained_intron, protein_coding, processed_transcript	uc011cbg.1	nonsynonymous SNV	exon3	c.G164T	p.G55V	CCRGDVLDCLQDGEKIMSYICSQQD	CCRGDVLDCLQDVEKIMSYICSQQD	1.0	6.0	-	-	4202_4:74310838-74310838 G>T_CCRGDVLDCLQDVEKIMSYICSQQD
19:58805857-58805857 C>T	0.0	4202	MELANOMA	-	-	-	-	ZNF8	ENST00000196548,p.P228L|uc002qry.1,p.P228L|NM_021089,p.P228L	protein_coding	uc002qry.1	nonsynonymous SNV	exon4	c.C683T	p.P228L	LVSQQTGSPGKQPGENSDCHRDSSQ	LVSQQTGSPGKQLGENSDCHRDSSQ	5.0	7.0	-	-	4202_19:58805857-58805857 C>T_LVSQQTGSPGKQLGENSDCHRDSSQ
3:122003665-122003665 G>A	0.0	4202	MELANOMA	-	-	ID=COSM1693321;OCCURENCE=1(skin)	-	CASR	uc003eew.4,p.R965Q|NM_000388,p.R955Q|ENST00000490131,p.R955Q|ENST00000296154,p.R955Q|uc003eev.4,p.R955Q|NM_001178065,p.R965Q|ENST00000498619,p.R965Q	retained_intron, protein_coding	uc003eew.4	nonsynonymous SNV	exon7	c.G2894A	p.R965Q	QQQQPLTLPQQQRSQQQPRCKQKVI	QQQQPLTLPQQQQSQQQPRCKQKVI	1.0	8.0	-	-	4202_3:122003665-122003665 G>A_QQQQPLTLPQQQQSQQQPRCKQKVI
11:7847509-7847509 C>T	0.0	4202	MELANOMA	-	-	-	-	OR5P3	ENST00000328375,p.G4E|NM_153445,p.G4E|uc010rbg.2,p.G4E	protein_coding	uc010rbg.2	nonsynonymous SNV	exon1	c.G11A	p.G4E	MGTGNDTTVVEFTLLG	MGTENDTTVVEFTLLG	1.0	3.0	-	-	4202_11:7847509-7847509 C>T_MGTENDTTVVEFTLLG
3:109031461-109031461 C>T	0.0	4202	MELANOMA	-	-	ID=COSM727322;OCCURENCE=1(lung)	-	DPPA2	ENST00000478945,p.E38K|NM_138815,p.E38K|uc003dxo.3,p.E38K	protein_coding	uc003dxo.3	nonsynonymous SNV	exon3	c.G112A	p.E38K	LTLVPVKDDANMEQMEPSVSSTSDV	LTLVPVKDDANMKQMEPSVSSTSDV	1.0	7.0	-	-	4202_3:109031461-109031461 C>T_LTLVPVKDDANMKQMEPSVSSTSDV
8:124989690-124989690 C>T	0.0	4202	MELANOMA	-	-	-	-	FER1L6	ENST00000399018,p.P302S|ENST00000522917,p.P302S|uc003yqw.3,p.P302S|NM_001039112,p.P302S	protein_coding	uc003yqw.3	nonsynonymous SNV	exon10	c.C904T	p.P302S	MGRTTVQKNCADPVWHEQVIFKEMF	MGRTTVQKNCADSVWHEQVIFKEMF	1.0	5.0	-	-	4202_8:124989690-124989690 C>T_MGRTTVQKNCADSVWHEQVIFKEMF
18:28576937-28576937 C>T	0.0	4202	MELANOMA	-	-	-	-	DSC3	uc002kwi.4,p.M771I|ENST00000434452,p.M771I|NM_001941,p.M771I|uc002kwj.4,p.M771I|NM_024423,p.M771I|ENST00000360428,p.M771I	protein_coding	uc002kwj.4	nonsynonymous SNV	exon15	c.G2313A	p.M771I	SSQGFCGTMGSGMKNGGQETIEMMK	SSQGFCGTMGSGIKNGGQETIEMMK	1.0	7.0	-	-	4202_18:28576937-28576937 C>T_SSQGFCGTMGSGIKNGGQETIEMMK
15:51669682-51669682 G>A	0.0	4202	MELANOMA	-	-	-	-	GLDN	uc002aba.3,p.G134S|ENST00000558426,p.G20S|NM_181789,p.G134S|ENST00000335449,p.G134S	retained_intron, protein_coding	uc002aba.3	nonsynonymous SNV	exon2	c.G400A	p.G134S	IRVMVDLCNSTKGICLTGPSGPPGP	IRVMVDLCNSTKSICLTGPSGPPGP	3.0	7.0	-	-	4202_15:51669682-51669682 G>A_IRVMVDLCNSTKSICLTGPSGPPGP
1:196927048-196927048 C>A	0.0	4202	MELANOMA	-	-	-	-	CFHR2	uc001gtr.1,p.P29Q	protein_coding, processed_transcript	uc001gtr.1	nonsynonymous SNV	exon2	c.C86A	p.P29Q	GGEVSAEKCGPPPPIDNGDITSFLL	GGEVSAEKCGPPQPIDNGDITSFLL	1.0	7.0	-	-	4202_1:196927048-196927048 C>A_GGEVSAEKCGPPQPIDNGDITSFLL
10:15726075-15726075 C>T	0.0	4202	MELANOMA	-	-	-	-	ITGA8	NM_003638,p.D166N|uc010qcb.1,p.D166N|uc001ioc.1,p.D166N|ENST00000378076,p.D166N|NM_001291494,p.D166N	protein_coding, processed_transcript	uc010qcb.1	nonsynonymous SNV	exon4	c.G496A	p.D166N	YHWRTLKPTPEKDPVGTCYVAIQNF	YHWRTLKPTPEKNPVGTCYVAIQNF	3.0	5.0	-	-	4202_10:15726075-15726075 C>T_YHWRTLKPTPEKNPVGTCYVAIQNF
1:196927048-196927048 C>A	0.0	4202	MELANOMA	-	-	-	-	CFHR2	ENST00000367415,p.P153Q|NM_005666,p.P153Q|uc001gtq.1,p.P153Q|ENST00000367421,p.P153Q	protein_coding, processed_transcript	uc001gtq.1	nonsynonymous SNV	exon4	c.C458A	p.P153Q	RSTISAEKCGPPPPIDNGDITSFLL	RSTISAEKCGPPQPIDNGDITSFLL	1.0	7.0	-	-	4202_1:196927048-196927048 C>A_RSTISAEKCGPPQPIDNGDITSFLL
8:2796226-2796226 C>T	0.0	4202	MELANOMA	-	-	-	-	CSMD1	uc010lrg.3,p.E1418K|uc011kwj.2,p.E2841K|NM_033225,p.E3526K|ENST00000602723,p.E3350K|ENST00000602557,p.E3527K|ENST00000400186,p.E3350K|uc022aqr.1,p.E3526K|ENST00000542608,p.E3349K|ENST00000537824,p.E3526K|ENST00000520002,p.E3527K	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon70	c.G10576A	p.E3526K	RPKVQYNGYAGHENSNGQASFENPM	RPKVQYNGYAGHKNSNGQASFENPM	1.0	7.0	-	-	4202_8:2796226-2796226 C>T_RPKVQYNGYAGHKNSNGQASFENPM
17:18651287-18651287 C>T	0.0	4202	MELANOMA	-	-	-	-	FBXW10	ENST00000395667,p.S180F|NM_001267585,p.S180F|uc010cqh.2,p.S180F|uc002gul.3,p.S180F|ENST00000395665,p.S180F|ENST00000308799,p.S180F|ENST00000301938,p.S180F|uc002guk.3,p.S180F|NM_001267586,p.S180F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010cqh.2	nonsynonymous SNV	exon2	c.C539T	p.S180F	SGLNQDITDVCFSPEKDHSSKSATS	SGLNQDITDVCFFPEKDHSSKSATS	2.0	6.0	-	-	4202_17:18651287-18651287 C>T_SGLNQDITDVCFFPEKDHSSKSATS
15:38791054-38791054 T>C	0.0	4202	MELANOMA	-	-	-	-	RASGRP1	ENST00000450598,p.N570S|uc001zkd.4,p.N570S|uc001zke.4,p.N605S|uc010bbf.3,p.N432S|NM_005739,p.N605S|ENST00000559830,p.N570S|NM_001128602,p.N570S|ENST00000561180,p.N656S|ENST00000539159,p.N557S|ENST00000558432,p.N619S|ENST00000310803,p.N605S	protein_coding, nonsense_mediated_decay	uc010bbf.3	nonsynonymous SNV	exon11	c.A1295G	p.N432S	KRAKNPVAPTENNTSVGPVSNLCSL	KRAKNPVAPTENSTSVGPVSNLCSL	3.0	6.0	-	-	4202_15:38791054-38791054 T>C_KRAKNPVAPTENSTSVGPVSNLCSL
3:161221185-161221185 G>A	0.0	4202	MELANOMA	-	-	-	-	OTOL1	uc011bpb.2,p.E297K|NM_001080440,p.E297K|ENST00000327928,p.E297K	protein_coding	uc011bpb.2	nonsynonymous SNV	exon4	c.G889A	p.E297K	AKGDPGIKGEKGELGPPGLLGPTGP	AKGDPGIKGEKGKLGPPGLLGPTGP	1.0	5.0	-	-	4202_3:161221185-161221185 G>A_AKGDPGIKGEKGKLGPPGLLGPTGP
11:122756567-122756567 C>T	0.0	4202	MELANOMA	-	-	ID=COSM924117;OCCURENCE=1(endometrium)	-	C11orf63	ENST00000307257,p.R4C|NM_024806,p.R4C|ENST00000531316,p.R4C|NM_199124,p.R4C|uc001pyl.2,p.R4C|ENST00000227349,p.R4C|uc001pym.4,p.R4C	retained_intron, protein_coding	uc001pym.4	nonsynonymous SNV	exon2	c.C10T	p.R4C	MSKRKLIPKLSIQSPV	MSKCKLIPKLSIQSPV	3.0	5.0	-	-	4202_11:122756567-122756567 C>T_MSKCKLIPKLSIQSPV
12:79693305-79693305 G>A	0.0	4202	MELANOMA	-	-	-	-	SYT1	NM_001135806,p.D262N|ENST00000393240,p.D262N|uc001syu.3,p.D259N|uc001syt.3,p.D262N|NM_001135805,p.D262N|uc001sys.3,p.D262N|NM_005639,p.D262N|ENST00000552744,p.D262N|ENST00000457153,p.D259N|ENST00000261205,p.D262N|uc001syv.3,p.D262N|NM_001291901,p.D259N	protein_coding, processed_transcript	uc001syv.3	nonsynonymous SNV	exon7	c.G784A	p.D262N	TVDFGHVTEEWRDLQSAEKEEQEKL	TVDFGHVTEEWRNLQSAEKEEQEKL	1.0	4.0	-	-	4202_12:79693305-79693305 G>A_TVDFGHVTEEWRNLQSAEKEEQEKL
16:2867439-2867439 G>A	0.0	4202	MELANOMA	-	-	-	-	PRSS21	uc031qus.1,p.E25K|uc002crs.4,p.E25K|NM_001270452,p.E25K|NM_144957,p.E25K|uc002crr.4,p.E25K|uc002crt.4,p.E25K|ENST00000455114,p.E25K|ENST00000450020,p.E25K|ENST00000005995,p.E25K|NM_006799,p.E25K|NM_144956,p.E25K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qus.1	nonsynonymous SNV	exon2	c.G73A	p.E25K	LARAGLRKPESQEAAPLSGPCGRRV	LARAGLRKPESQKAAPLSGPCGRRV	3.0	5.0	-	-	4202_16:2867439-2867439 G>A_LARAGLRKPESQKAAPLSGPCGRRV
16:84203623-84203623 G>A	0.0	4202	MELANOMA	-	-	-	-	DNAAF1	ENST00000563093,p.E397K|ENST00000334315,p.E397K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	ENST00000563093	nonsynonymous SNV	exon8	c.G1189A	p.E397K	AKDELCPEKPSGEEPPVEAKREDGD	AKDELCPEKPSGKEPPVEAKREDGD	4.0	5.0	unscreened	-	4202_16:84203623-84203623 G>A_AKDELCPEKPSGKEPPVEAKREDGD
16:84203623-84203623 G>A	0.0	4202	MELANOMA	-	-	-	-	DNAAF1	NM_178452,p.E397K|uc002fhl.4,p.E397K|ENST00000378553,p.E397K|uc010vnw.2,p.E161K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc010vnw.2	nonsynonymous SNV	exon4	c.G481A	p.E161K	AKDELCPEKPSGEEPPVEAKREDGG	AKDELCPEKPSGKEPPVEAKREDGG	4.0	5.0	-	-	4202_16:84203623-84203623 G>A_AKDELCPEKPSGKEPPVEAKREDGG
12:48372504-48372504 C>T	0.0	4202	MELANOMA	-	-	-	1	COL2A1	NM_033150,p.G855E|uc001rqu.3,p.G924E|uc001rqv.3,p.G855E|NM_001844,p.G924E|ENST00000337299,p.G855E|ENST00000380518,p.G924E	retained_intron, protein_coding, processed_transcript	uc001rqv.3	nonsynonymous SNV	exon41	c.G2564A	p.G855E	GNPGPPGPPGPSGKDGPKGARGDSG	GNPGPPGPPGPSEKDGPKGARGDSG	1.0	6.0	-	-	4202_12:48372504-48372504 C>T_GNPGPPGPPGPSEKDGPKGARGDSG
16:46766425-46766425 C>T	0.0	4202	MELANOMA	-	-	-	-	MYLK3	uc002eei.4,p.G386E|NM_182493,p.G386E|uc002eej.1,p.G45E|ENST00000394809,p.G386E|ENST00000536476,p.G45E|uc010vge.2,p.G45E	retained_intron, protein_coding, processed_transcript	uc010vge.2	nonsynonymous SNV	exon3	c.G134A	p.G45E	GPPGTGRCLQAPGTEPGEQTPEGAR	GPPGTGRCLQAPETEPGEQTPEGAR	1.0	4.0	-	-	4202_16:46766425-46766425 C>T_GPPGTGRCLQAPETEPGEQTPEGAR
2:179411080-179411080 C>T	0.0	4202	MELANOMA	-	-	-	-	TTN	NM_001256850,p.E30019K|NM_133437,p.E22787K|ENST00000589042,p.E31660K|uc021vsy.2,p.E29092K|uc031rqc.1,p.E31660K|ENST00000591111,p.E30019K|ENST00000460472,p.E22595K|ENST00000342175,p.E22787K|uc021vsz.2,p.E22787K|NM_133432,p.E22720K|uc021vtb.2,p.E22595K|ENST00000359218,p.E22720K|uc031rqd.1,p.E30019K|NM_003319,p.E22595K|NM_133378,p.E29092K|NM_001267550,p.E31660K|uc021vta.2,p.E22720K|ENST00000342992,p.E29092K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon292	c.G90055A	p.E30019K	IWTKGDKELDLCEKVSLQYTGKRAT	IWTKGDKELDLCKKVSLQYTGKRAT	1.0	5.0	-	-	4202_2:179411080-179411080 C>T_IWTKGDKELDLCKKVSLQYTGKRAT
17:46862455-46862455 C>T	0.0	4202	MELANOMA	-	-	ID=COSM1710424,COSM1710425,COSM1710423;OCCURENCE=1(skin)	-	TTLL6	uc002iod.3,p.E471K|NM_173623,p.E317K|NM_001130918,p.E624K|ENST00000393382,p.E624K|ENST00000433608,p.E317K|uc021tzm.1,p.E624K|uc002iob.3,p.E317K|uc002ioc.3,p.E377K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tzm.1	nonsynonymous SNV	exon13	c.G1870A	p.E624K	ETDSSLNQEAPTEEASSVFPKLTSA	ETDSSLNQEAPTKEASSVFPKLTSA	1.0	5.0	-	-	4202_17:46862455-46862455 C>T_ETDSSLNQEAPTKEASSVFPKLTSA
12:117963009-117963009 C>T	0.0	4202	MELANOMA	-	-	-	-	KSR2	ENST00000425217,p.D594N|NM_173598,p.D594N|ENST00000302438,p.D320N|ENST00000339824,p.D623N|uc001two.2,p.D594N	retained_intron, protein_coding, processed_transcript	uc001two.2	nonsynonymous SNV	exon14	c.G1780A	p.D594N	EVEPTSENEEVHDEAEESEDDFEEM	EVEPTSENEEVHNEAEESEDDFEEM	1.0	6.0	-	-	4202_12:117963009-117963009 C>T_EVEPTSENEEVHNEAEESEDDFEEM
16:80718765-80718765 G>A	0.0	4202	MELANOMA	-	-	-	-	CDYL2	NM_152342,p.P96S|ENST00000566173,p.P96S|ENST00000562812,p.P96S|ENST00000563890,p.P96S|ENST00000299564,p.P96S|uc002ffs.3,p.P96S	protein_coding, processed_transcript	uc002ffs.3	nonsynonymous SNV	exon2	c.C286T	p.P96S	PSVEKLSHRPSDPGKSKGTSHKRKR	PSVEKLSHRPSDSGKSKGTSHKRKR	4.0	6.0	-	-	4202_16:80718765-80718765 G>A_PSVEKLSHRPSDSGKSKGTSHKRKR
11:60468336-60468336 G>A	0.0	4202	MELANOMA	-	-	-	-	MS4A8	uc009yne.1,p.M1I|ENST00000300226,p.M1I|ENST00000529752,p.M1I|NM_031457,p.M1I|uc001npv.3,p.M1I|ENST00000532816,p.M1I	retained_intron, protein_coding, nonsense_mediated_decay	uc009yne.1	nonsynonymous SNV	exon2	c.G3A	p.M1I	MNSMTSAVPVANS	INSMTSAVPVANS	1.0	6.0	unscreened	-	4202_11:60468336-60468336 G>A_INSMTSAVPVANS
17:40962842-40962842 T>G	1.0	4242	GASTRIC	-	-	-	-	BECN1	ENST00000361523,p.K430T|uc010whb.1,p.K343T|uc002ibn.2,p.K430T|ENST00000589663,p.K112T|NM_003766,p.K430T|ENST00000590099,p.K430T|uc002ibo.3,p.K430T	retained_intron, protein_coding, nonsense_mediated_decay	uc010whb.1	nonsynonymous SNV	exon11	c.A1028C	p.K343T	QFNSEEQWTKALKFMLTNLKWGLAW	QFNSEEQWTKALTFMLTNLKWGLAW	9.0	4.0	-	-	4242_17:40962842-40962842 T>G_QFNSEEQWTKALTFMLTNLKWGLAW
1:227327385-227327385 C>A	1.0	4242	GASTRIC	-	-	-	-	CDC42BPA	ENST00000366766,p.D428Y|ENST00000366765,p.D428Y|ENST00000366767,p.D428Y|ENST00000366764,p.D428Y|ENST00000535525,p.D428Y|ENST00000366769,p.D428Y|uc009xes.3,p.D428Y|uc001hqs.3,p.D428Y|uc001hqr.3,p.D428Y|ENST00000334218,p.D428Y|NM_003607,p.D428Y|uc010pvs.2,p.D428Y|NM_014826,p.D428Y	protein_coding, processed_transcript	uc010pvs.2	nonsynonymous SNV	exon10	c.G1282T	p.D428Y	LRVTAGPTSLDLDVNVQRTLDNNLA	LRVTAGPTSLDLYVNVQRTLDNNLA	9.0	10.0	CD8	-	4242_1:227327385-227327385 C>A_LRVTAGPTSLDLYVNVQRTLDNNLA
8:145003629-145003629 C>T	1.0	4242	GASTRIC	-	-	-	-	PLEC	ENST00000354958,p.D990N|ENST00000356346,p.D998N|ENST00000345136,p.D1012N|uc003zah.2,p.D998N|uc003zae.1,p.D980N|NM_201380,p.D1149N|uc003zad.2,p.D1012N|NM_201379,p.D990N|NM_201384,p.D1012N|uc003zag.1,p.D990N|NM_201382,p.D1012N|ENST00000354589,p.D1012N|uc003zac.1,p.D1016N|ENST00000436759,p.D1039N|ENST00000357649,p.D1016N|uc003zaf.1,p.D1149N|ENST00000398774,p.D980N|uc003zaj.2,p.D1039N|NM_201383,p.D1016N|NM_201378,p.D998N|ENST00000527096,p.D1035N|ENST00000322810,p.D1149N|NM_000445,p.D1039N|NM_201381,p.D980N|uc003zab.1,p.D1012N	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon25	c.G3115A	p.D1039N	ETRTVHRLRLPLDKEPARECAQRIA	ETRTVHRLRLPLNKEPARECAQRIA	10.0	1.0	-	-	4242_8:145003629-145003629 C>T_ETRTVHRLRLPLNKEPARECAQRIA
12:132237742-132237742 G>A	1.0	4242	GASTRIC	-	-	-	-	SFSWAP	ENST00000541286,p.G386R|ENST00000535236,p.G179R|NM_004592,p.G386R|uc001uiz.2,p.G260R|uc010tbn.2,p.G386R|ENST00000261674,p.G386R|uc001uja.2,p.G386R|uc001ujb.1,p.G179R|NM_001261411,p.G386R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tbn.2	nonsynonymous SNV	exon8	c.G1156A	p.G386R	PDGTYCLAPPPPGIDVTTYYSTLPA	PDGTYCLAPPPPRIDVTTYYSTLPA	10.0	4.0	-	-	4242_12:132237742-132237742 G>A_PDGTYCLAPPPPRIDVTTYYSTLPA
14:92264239-92264239 C>G	1.0	4242	GASTRIC	-	-	-	-	TC2N	uc010auc.3,p.D249H|uc001xzt.4,p.D249H|NM_001128595,p.D249H|ENST00000360594,p.D249H|ENST00000340892,p.D249H|ENST00000435962,p.D249H|uc001xzu.4,p.D249H|NM_001289134,p.D249H|uc001xzv.4,p.D249H|NM_152332,p.D249H|NM_001128596,p.D249H|ENST00000556018,p.D249H	retained_intron, protein_coding, processed_transcript	uc010auc.3	nonsynonymous SNV	exon8	c.G745C	p.D249H	VEQIWITVLQCRDLSWPSSYGDTPT	VEQIWITVLQCRHLSWPSSYGDTPT	10.0	3.0	-	-	4242_14:92264239-92264239 C>G_VEQIWITVLQCRHLSWPSSYGDTPT
19:45496024-45496024 C>T	1.0	4242	GASTRIC	-	-	-	-	CLPTM1	ENST00000546079,p.P525S|ENST00000337392,p.P627S|uc010xxf.2,p.P525S|uc002pai.3,p.P627S|uc010xxg.2,p.P613S|NM_001282175,p.P613S|NM_001294,p.P627S|ENST00000541297,p.P613S|NM_001282176,p.P525S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xxg.2	nonsynonymous SNV	exon14	c.C1837T	p.P613S	PTAAGALTPTPAPTTTTATREEAST	PTAAGALTPTPASTTTTATREEAST	9.0	5.0	unscreened	-	4242_19:45496024-45496024 C>T_PTAAGALTPTPASTTTTATREEAST
14:23303386-23303386 A>C	1.0	4242	GASTRIC	-	-	-	-	MRPL52	ENST00000311892,p.E13A	retained_intron, protein_coding, processed_transcript	ENST00000311892	nonsynonymous SNV	exon5	c.A38C	p.E13A	MVKIFSTCYLLDELYCCHRKWTLDY	MVKIFSTCYLLDALYCCHRKWTLDY	10.0	5.0	unscreened	-	4242_14:23303386-23303386 A>C_MVKIFSTCYLLDALYCCHRKWTLDY
15:44806969-44806969 C>G	0.0	4242	GASTRIC	-	-	-	-	CTDSPL2	uc001zts.3,p.L347V|ENST00000558373,p.L275V|ENST00000558966,p.L347V|uc010bdv.3,p.L275V|ENST00000260327,p.L347V|NM_016396,p.L347V|uc001ztt.3,p.L347V|uc001ztr.3,p.L347V|ENST00000396780,p.L275V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bdv.3	nonsynonymous SNV	exon8	c.C823G	p.L275V	FLERMSQMYEIILFTASKKVYADKL	FLERMSQMYEIIVFTASKKVYADKL	6.0	8.0	-	-	4242_15:44806969-44806969 C>G_FLERMSQMYEIIVFTASKKVYADKL
13:38172757-38172757 C>-	0.0	4242	GASTRIC	-	-	-	-	POSTN	uc001uwq.3,p.G36fs|uc010tew.1,p.G36fs|uc010teu.1,p.G36fs|NM_001286667,p.G36fs|ENST00000379742,p.G36fs|NM_006475,p.G36fs|NM_001135934,p.G36fs|ENST00000541481,p.G36fs|ENST00000379743,p.G36fs|NM_001135935,p.G36fs|NM_001286665,p.G36fs|uc001uwr.3,p.G36fs|ENST00000379749,p.G36fs|ENST00000541179,p.G36fs|ENST00000379747,p.G36fs|uc001uwp.4,p.G36fs|uc001uwo.4,p.G36fs|uc010tev.1,p.G36fs|NM_001135936,p.G36fs|NM_001286666,p.G36fs	protein_coding, processed_transcript	uc010tew.1	frameshift deletion	exon1	c.107delG	p.G36fs	HYDKILAHSRIRGRDQGPNVCALQQ	HYDKILAHSRIRVGTKAQMSVPFNRFWAPKRNTSALVRTGIKSPSVDRKRLCYMNVALVI	9.0	10.0	-	-	4242_13:38172757-38172757 C>-_HYDKILAHSRIRVGTKAQMSVPFNRFWAPKRNTSALVRTGIKSPSVDRKRLCYMNVALVI
14:23303386-23303386 A>C	1.0	4242	GASTRIC	-	-	-	-	MRPL52	NM_181307,p.S55R|ENST00000556465,p.S54R|uc001whb.4,p.S55R|ENST00000397505,p.S55R	retained_intron, protein_coding, processed_transcript	uc001whb.4	nonsynonymous SNV	exon4	c.A163C	p.S55R	LTELPDWSYAETSCTAVTGNGRWIT	LTELPDWSYAETRCTAVTGNGRWIT	10.0	5.0	unscreened	-	4242_14:23303386-23303386 A>C_LTELPDWSYAETRCTAVTGNGRWIT
5:74892318-74892318 A>C	0.0	4242	GASTRIC	-	-	-	-	POLK	NM_016218,p.Q600H|uc003kec.3,p.Q510H|ENST00000508526,p.Q402H|ENST00000380481,p.Q510H|ENST00000352007,p.Q402H|ENST00000241436,p.Q600H|uc010izq.3,p.Q402H|uc003kdw.3,p.Q600H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010izq.3	nonsynonymous SNV	exon7	c.A1206C	p.Q402H	VNKQSFQTSQPFQVLKKKMNENLEI	VNKQSFQTSQPFHVLKKKMNENLEI	6.0	7.0	-	-	4242_5:74892318-74892318 A>C_VNKQSFQTSQPFHVLKKKMNENLEI
17:74163736-74163736 C>T	0.0	4242	GASTRIC	-	-	-	-	RNF157	ENST00000269391,p.A147T|NM_052916,p.A147T|uc002jra.3,p.A147T|uc002jqz.3,p.A147T|ENST00000319945,p.A147T	retained_intron, protein_coding, processed_transcript	uc002jra.3	nonsynonymous SNV	exon4	c.G439A	p.A147T	YYQATEEFQNGIASYIPKDNSLQSE	YYQATEEFQNGITSYIPKDNSLQSE	8.0	1.0	-	-	4242_17:74163736-74163736 C>T_YYQATEEFQNGITSYIPKDNSLQSE
2:10188008-10188008 A>-	0.0	4242	GASTRIC	-	-	-	-	KLF11	uc002raf.1,p.S182fs|ENST00000535335,p.S165fs|NM_003597,p.S182fs|NM_001177716,p.S165fs|ENST00000305883,p.S182fs|uc021vdq.1,p.S165fs|NM_001177718,p.S165fs|uc010yjc.2,p.S165fs|ENST00000540845,p.S165fs	protein_coding	uc021vdq.1	frameshift deletion	exon3	c.493delA	p.S165fs	AKGTSVIRHTGESPAACFPTIQTPD	AKGTSVIRHTGEALLPAFPPSRLQIAGFLTAEKEKSSFWDTLKLCRTHTSRTVYSALTWCPVSPACTSLVACCSLTKASRQGGLVQFRLAHQRIMKMTCPGKPPL	6.0	4.0	unscreened	-	4242_2:10188008-10188008 A>-_AKGTSVIRHTGEALLPAFPPSRLQIAGFLTAEKEKSSFWDTLKLCRTHTSRTVYSALTWCPVSPACTSLVACCSLTKASRQGGLVQFRLAHQRIMKMTCPGKPPL
3:172480276-172480276 A>C	1.0	4242	GASTRIC	-	-	-	-	ECT2	uc003fil.2,p.S277R|uc003fik.2,p.S246R|NM_018098,p.S246R|ENST00000540509,p.S277R|ENST00000232458,p.S246R|NM_001258315,p.S277R|NM_001258316,p.S246R|ENST00000417960,p.S245R|ENST00000392692,p.S277R|ENST00000441497,p.S246R|ENST00000427830,p.S246R|uc003fij.2,p.S246R|uc003fii.3,p.S246R|uc003fih.3,p.S245R	retained_intron, protein_coding	uc003fil.2	nonsynonymous SNV	exon9	c.A829C	p.S277R	EFKVPPFQDCILSFLGFSDEEKTNM	EFKVPPFQDCILRFLGFSDEEKTNM	9.0	4.0	-	-	4242_3:172480276-172480276 A>C_EFKVPPFQDCILRFLGFSDEEKTNM
14:23303386-23303386 A>C	1.0	4242	GASTRIC	-	-	-	-	MRPL52	ENST00000432849,p.S78R|ENST00000555536,p.S20R	retained_intron, protein_coding, processed_transcript	ENST00000555536	nonsynonymous SNV	exon5	c.A58C	p.S20R	KAERETFAVSETSCTAVTGNGRWIT	KAERETFAVSETRCTAVTGNGRWIT	10.0	5.0	unscreened	-	4242_14:23303386-23303386 A>C_KAERETFAVSETRCTAVTGNGRWIT
10:112362680-112362680 A>C	1.0	4242	GASTRIC	-	-	-	-	SMC3	NM_005445,p.Q1132P|uc001kze.3,p.Q1132P|ENST00000361804,p.Q1132P	protein_coding, processed_transcript	uc001kze.3	nonsynonymous SNV	exon27	c.A3395C	p.Q1132P	KSLVALALIFAIQKCDPAPFYLFDE	KSLVALALIFAIPKCDPAPFYLFDE	9.0	8.0	-	-	4242_10:112362680-112362680 A>C_KSLVALALIFAIPKCDPAPFYLFDE
18:21496549-21496549 G>T	0.0	4242	GASTRIC	-	-	-	-	LAMA3	ENST00000313654,p.G2605C|NM_000227,p.G996C|ENST00000269217,p.G996C|uc002kus.4,p.G996C|NM_001127717,p.G2549C|ENST00000587184,p.G940C|NM_001127718,p.G940C|ENST00000399516,p.G2549C|uc002kur.3,p.G2549C|uc002kut.4,p.G940C|NM_198129,p.G2605C|uc002kuq.3,p.G2605C	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc002kut.4	nonsynonymous SNV	exon22	c.G2818T	p.G940C	RRKEESDKNYFEGTGYARVPTQPHA	RRKEESDKNYFECTGYARVPTQPHA	10.0	1.0	-	-	4242_18:21496549-21496549 G>T_RRKEESDKNYFECTGYARVPTQPHA
10:87362373-87362373 G>A	0.0	4242	GASTRIC	-	-	ID=COSM302333;OCCURENCE=1(central_nervous_system)	-	GRID1	NM_017551,p.A896V|ENST00000536331,p.A467V|uc001kdl.1,p.A896V|uc010qmf.1,p.A467V|ENST00000327946,p.A896V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qmf.1	nonsynonymous SNV	exon9	c.C1400T	p.A467V	MDEDIAHKQISPASIELSALEMGGL	MDEDIAHKQISPVSIELSALEMGGL	6.0	10.0	-	-	4242_10:87362373-87362373 G>A_MDEDIAHKQISPVSIELSALEMGGL
3:49017844-49017844 A>G	1.0	4242	GASTRIC	-	-	-	-	ARIH2	ENST00000356401,p.E391G|NM_006321,p.E391G|uc003cvb.3,p.E391G|uc003cvf.3,p.E309G|ENST00000449376,p.E391G|uc003cvc.3,p.E391G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cvf.3	nonsynonymous SNV	exon12	c.A926G	p.E309G	LQLEAQTYQRIHEKIQERVMNNLGT	LQLEAQTYQRIHGKIQERVMNNLGT	9.0	3.0	-	-	4242_3:49017844-49017844 A>G_LQLEAQTYQRIHGKIQERVMNNLGT
14:90432524-90432524 C>A	0.0	4242	GASTRIC	-	-	-	-	TDP1	uc001xxy.3,p.S198Y|ENST00000553617,p.S99Y|ENST00000555880,p.S198Y|NM_018319,p.S198Y|uc010atn.3,p.S198Y|ENST00000335725,p.S198Y|ENST00000554180,p.S198Y|ENST00000555178,p.S198Y|NM_001008744,p.S198Y|ENST00000393452,p.S198Y|ENST00000545686,p.S198Y|ENST00000393454,p.S198Y|uc001xxz.3,p.S198Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010atn.3	nonsynonymous SNV	exon4	c.C593A	p.S198Y	KDILSPLFGTLVSSAQFNYCFDVDW	KDILSPLFGTLVYSAQFNYCFDVDW	6.0	5.0	-	-	4242_14:90432524-90432524 C>A_KDILSPLFGTLVYSAQFNYCFDVDW
6:131190833-131190833 T>A	1.0	4242	GASTRIC	-	-	-	-	EPB41L2	ENST00000527411,p.E756V|uc003qcj.1,p.E223V|uc003qce.1,p.E204V|ENST00000524581,p.E204V|ENST00000527423,p.E225V|ENST00000337057,p.E826V|NM_001431,p.E826V|ENST00000368128,p.E826V|uc003qch.2,p.E826V|ENST00000529208,p.E756V	retained_intron, protein_coding, processed_transcript	uc003qcj.1	nonsynonymous SNV	exon4	c.A668T	p.E223V	IQENVGAQKIPGEKSVHEGALKQDM	IQENVGAQKIPGVKSVHEGALKQDM	8.0	8.0	-	-	4242_6:131190833-131190833 T>A_IQENVGAQKIPGVKSVHEGALKQDM
1:154932021-154932021 G>C	1.0	4242	GASTRIC	-	-	-	-	PYGO2	uc001fft.3,p.P152R|ENST00000368457,p.P152R|NM_138300,p.P152R|ENST00000368456,p.P115R	protein_coding, processed_transcript	uc001fft.3	nonsynonymous SNV	exon3	c.C455G	p.P152R	PMGPAFNMPPQGPGYPPPGNMNFPS	PMGPAFNMPPQGRGYPPPGNMNFPS	9.0	1.0	unscreened	-	4242_1:154932021-154932021 G>C_PMGPAFNMPPQGRGYPPPGNMNFPS
18:19751443-19751443 T>A	1.0	4242	GASTRIC	-	-	-	-	GATA6	uc002ktt.2,p.L113Q|NM_005257,p.L113Q|ENST00000269216,p.L113Q|ENST00000581694,p.L113Q|uc002ktu.2,p.L113Q	protein_coding	uc002ktu.2	nonsynonymous SNV	exon1	c.T338A	p.L113Q	GPGGNLSSWEDLLLFTDLDQAATAS	GPGGNLSSWEDLQLFTDLDQAATAS	10.0	3.0	-	-	4242_18:19751443-19751443 T>A_GPGGNLSSWEDLQLFTDLDQAATAS
11:46397031-46397031 A>G	0.0	4242	GASTRIC	-	-	-	-	DGKZ	NM_001199267,p.E586G|ENST00000343674,p.E603G|ENST00000318201,p.E564G|NM_001199268,p.E564G|NM_001105540,p.E775G|ENST00000421244,p.E587G|ENST00000527911,p.E587G|ENST00000456247,p.E586G|ENST00000532868,p.E591G|uc001ncm.2,p.E586G|NM_001199266,p.E587G|uc010rgs.1,p.E564G|uc009yky.1,p.E587G|uc010rgq.2,p.E569G|uc010rgr.2,p.E591G|uc001ncn.1,p.E775G|uc001nch.2,p.E603G|uc001ncl.2,p.E587G|uc001nck.2,p.E365G|NM_201533,p.E591G|NM_003646,p.E587G|NM_201532,p.E603G|ENST00000395574,p.E553G|ENST00000454345,p.E775G|ENST00000528615,p.E365G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rgs.1	nonsynonymous SNV	exon19	c.A1691G	p.E564G	VGGHGERLTQCREVVLTTSKAIPVQ	VGGHGERLTQCRGVVLTTSKAIPVQ	9.0	4.0	unscreened	-	4242_11:46397031-46397031 A>G_VGGHGERLTQCRGVVLTTSKAIPVQ
17:80046132-80046132 C>A	0.0	4242	GASTRIC	-	-	-	-	FASN	uc002kdu.3,p.G882V|ENST00000306749,p.G882V|uc002kdw.1,p.G98V|NM_004104,p.G882V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kdw.1	nonsynonymous SNV	exon3	c.G293T	p.G98V	SPDHYLVDHTLDGRVLFPATGYLSI	SPDHYLVDHTLDVRVLFPATGYLSI	10.0	2.0	-	-	4242_17:80046132-80046132 C>A_SPDHYLVDHTLDVRVLFPATGYLSI
21:34945659-34945659 G>A	0.0	4242	GASTRIC	-	-	-	-	SON	uc002yse.1,p.V2311I|NM_001291412,p.V339I|ENST00000381692,p.V339I|uc002ysf.1,p.V339I|NM_138927,p.V2311I|ENST00000356577,p.V2311I|uc002ysd.3,p.V1302I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ysf.1	nonsynonymous SNV	exon8	c.G1015A	p.V339I	LRAAPVTGGMGAVLMRKMGWREGEG	LRAAPVTGGMGAILMRKMGWREGEG	10.0	1.0	-	-	4242_21:34945659-34945659 G>A_LRAAPVTGGMGAILMRKMGWREGEG
6:31962468-31962468 A>C	0.0	4242	GASTRIC	-	-	-	-	C4A,C4B,C4B_2	NM_001002029,p.K929T|ENST00000428956,p.K929T|uc011doz.2,p.K929T|ENST00000498271,p.K929T|NM_001252204,p.K929T|NM_001242823,p.K929T|uc011doy.2,p.K929T|NM_007293,p.K929T	retained_intron, protein_coding, processed_transcript	uc011doz.2	nonsynonymous SNV	exon21	c.A2786C	p.K929T	GSFEFPVGDAVSKVLQIEKEGAIHR	GSFEFPVGDAVSTVLQIEKEGAIHR	6.0	2.0	-	-	4242_6:31962468-31962468 A>C_GSFEFPVGDAVSTVLQIEKEGAIHR
2:110373228-110373228 G>A	1.0	4242	GASTRIC	-	-	-	-	SOWAHC	uc002tfb.3,p.E388K|ENST00000356454,p.E388K|NM_023016,p.E388K	protein_coding	uc002tfb.3	nonsynonymous SNV	exon1	c.G1162A	p.E388K	KKASQYLSRSIAEEIKNLVGALDEG	KKASQYLSRSIAKEIKNLVGALDEG	7.0	8.0	-	-	4242_2:110373228-110373228 G>A_KKASQYLSRSIAKEIKNLVGALDEG
3:9868807-9868807 A>C	0.0	4242	GASTRIC	-	-	-	-	ARPC4-TTLL3,TTLL3	uc003btk.3,p.K137T|uc011atj.2,p.K270T|ENST00000443148,p.K272T|uc003btg.4,p.K477T|ENST00000397256,p.K395T|ENST00000397241,p.K122T|ENST00000383827,p.K122T|ENST00000547186,p.K334T|NM_001198793,p.K395T|ENST00000455274,p.K122T|ENST00000426895,p.K477T|uc003btd.4,p.K395T|ENST00000430793,p.K122T|ENST00000438141,p.K122T|uc010hco.1,p.K270T|uc003btj.4,p.K122T|uc003bth.4,p.K122T|NM_001025930,p.K477T|ENST00000427853,p.K122T|uc003bti.4,p.K122T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011atj.2	nonsynonymous SNV	exon6	c.A809C	p.K270T	KYIERPLLIFGTKFDLRQWFLVTDW	KYIERPLLIFGTTFDLRQWFLVTDW	7.0	3.0	-	-	4242_3:9868807-9868807 A>C_KYIERPLLIFGTTFDLRQWFLVTDW
7:135302376-135302376 A>C	0.0	4242	GASTRIC	-	-	-	-	NUP205	NM_015135,p.E1239D|ENST00000285968,p.E1239D|uc003vsw.3,p.E1239D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vsw.3	nonsynonymous SNV	exon27	c.A3717C	p.E1239D	CNVKLLHRVLVAEVNALQGMAAIGQ	CNVKLLHRVLVADVNALQGMAAIGQ	9.0	8.0	-	-	4242_7:135302376-135302376 A>C_CNVKLLHRVLVADVNALQGMAAIGQ
19:45496024-45496024 C>T	1.0	4242	GASTRIC	-	-	-	-	CLPTM1	ENST00000586915,p.T116I|uc021uvo.1,p.T124I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uvo.1	nonsynonymous SNV	exon2	c.C371T	p.T124I	SHSSRGPHAHTCTHHDHRHQGGGLH	SHSSRGPHAHTCIHHDHRHQGGGLH	9.0	5.0	unscreened	-	4242_19:45496024-45496024 C>T_SHSSRGPHAHTCIHHDHRHQGGGLH
11:46397032-46397032 G>T	0.0	4242	GASTRIC	-	-	-	-	DGKZ	ENST00000395574,p.E553D|NM_003646,p.E587D|uc001nck.2,p.E365D|ENST00000532868,p.E591D|uc010rgs.1,p.E564D|ENST00000343674,p.E603D|ENST00000421244,p.E587D|NM_001199266,p.E587D|uc001nch.2,p.E603D|NM_001105540,p.E775D|ENST00000456247,p.E586D|ENST00000318201,p.E564D|uc001ncl.2,p.E587D|uc010rgq.2,p.E569D|NM_201533,p.E591D|NM_001199267,p.E586D|uc009yky.1,p.E587D|uc001ncn.1,p.E775D|uc010rgr.2,p.E591D|NM_001199268,p.E564D|NM_201532,p.E603D|ENST00000527911,p.E587D|uc001ncm.2,p.E586D|ENST00000454345,p.E775D|ENST00000528615,p.E365D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rgs.1	nonsynonymous SNV	exon19	c.G1692T	p.E564D	VGGHGERLTQCREVVLTTSKAIPVQ	VGGHGERLTQCRDVVLTTSKAIPVQ	9.0	4.0	unscreened	-	4242_11:46397032-46397032 G>T_VGGHGERLTQCRDVVLTTSKAIPVQ
7:97841893-97841893 T>A	0.0	4242	GASTRIC	-	-	-	-	BHLHA15	uc003upe.1,p.L91Q|ENST00000314018,p.L91Q|uc022ahw.1,p.L91Q|uc003upf.1,p.L91Q|NM_177455,p.L91Q	protein_coding	uc022ahw.1	nonsynonymous SNV	exon1	c.T272A	p.L91Q	ESNERERQRMHKLNNAFQALREVIP	ESNERERQRMHKQNNAFQALREVIP	5.0	10.0	-	-	4242_7:97841893-97841893 T>A_ESNERERQRMHKQNNAFQALREVIP
20:20599940-20599940 C>G	0.0	4242	GASTRIC	-	-	-	-	RALGAPA2	NM_020343,p.G507A|ENST00000202677,p.G507A|uc002wrz.3,p.G507A|uc002wry.3,p.G122A	protein_coding, processed_transcript	uc002wrz.3	nonsynonymous SNV	exon12	c.G1520C	p.G507A	CVTEEENTNVKAGVQALLQVFLTNS	CVTEEENTNVKAAVQALLQVFLTNS	8.0	9.0	-	-	4242_20:20599940-20599940 C>G_CVTEEENTNVKAAVQALLQVFLTNS
16:67213776-67213776 T>G	0.0	4242	GASTRIC	-	-	-	-	KIAA0895L	NM_001040715,p.K219T|ENST00000563902,p.K219T|ENST00000290881,p.K219T|uc002ert.3,p.K219T|uc002eru.3,p.K219T|ENST00000561621,p.K219T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eru.3	nonsynonymous SNV	exon4	c.A656C	p.K219T	HFEAATGGQLLTKCQIWSIVRKYMQ	HFEAATGGQLLTTCQIWSIVRKYMQ	7.0	7.0	-	-	4242_16:67213776-67213776 T>G_HFEAATGGQLLTTCQIWSIVRKYMQ
14:97031378-97031378 G>T	1.0	4242	GASTRIC	-	-	-	-	PAPOLA	NM_001293627,p.L742F|uc010avp.3,p.L493F|ENST00000392990,p.L722F|ENST00000216277,p.L743F|uc010twv.2,p.L722F|NM_001293632,p.L493F|uc001yfr.3,p.L742F|NM_001293628,p.L493F|uc001yfq.3,p.L743F|NM_032632,p.L743F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010twv.2	nonsynonymous SNV	exon21	c.G2166T	p.L722F	PIPVIKNSIKLRLNR	PIPVIKNSIKLRFNR	10.0	5.0	-	-	4242_14:97031378-97031378 G>T_PIPVIKNSIKLRFNR
9:36121656-36121656 C>-	0.0	4242	GASTRIC	-	-	-	-	RECK	uc003zyw.3,p.P761fs|NM_021111,p.P889fs|uc003zyv.3,p.P889fs|ENST00000377966,p.P889fs	protein_coding, processed_transcript	uc003zyw.3	frameshift deletion	exon22	c.2281delC	p.P761fs	FSIESEIVILIIPVDHYPKALQIEA	FSIESEIVILIIPSITIQKLCRLKPAIKKQRRLSPLSTLTARLWRPMSLSLPSSFPRYRSPAVCHRPVSGPGLLATPSSFPSAWALPCTCSGHIT	5.0	8.0	-	-	4242_9:36121656-36121656 C>-_FSIESEIVILIIPSITIQKLCRLKPAIKKQRRLSPLSTLTARLWRPMSLSLPSSFPRYRSPAVCHRPVSGPGLLATPSSFPSAWALPCTCSGHIT
1:154931988-154931988 G>T	0.0	4242	GASTRIC	-	-	-	-	PYGO2	NM_138300,p.P163H|uc001fft.3,p.P163H|ENST00000368457,p.P163H|ENST00000368456,p.P126H	protein_coding, processed_transcript	uc001fft.3	nonsynonymous SNV	exon3	c.C488A	p.P163H	GPGYPPPGNMNFPSQPFNQPLGQNF	GPGYPPPGNMNFHSQPFNQPLGQNF	9.0	2.0	unscreened	-	4242_1:154931988-154931988 G>T_GPGYPPPGNMNFHSQPFNQPLGQNF
1:228562445-228562445 G>A	0.0	4242	GASTRIC	-	-	-	-	OBSCN	NM_001271223,p.R8509Q|uc001hsr.1,p.R2181Q|uc009xez.2,p.R7552Q|ENST00000366707,p.R5186Q|ENST00000422127,p.R7552Q|uc001hsq.2,p.R8509Q|NM_001098623,p.R7552Q|ENST00000570156,p.R8509Q	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon97	c.G22655A	p.R7552Q	NALGTVTTTGVLRKAERPSSSPCPD	NALGTVTTTGVLQKAERPSSSPCPD	4.0	1.0	-	-	4242_1:228562445-228562445 G>A_NALGTVTTTGVLQKAERPSSSPCPD
2:175976304-175976304 C>A	1.0	4242	GASTRIC	-	-	-	-	ATF2	NM_001256090,p.A274S|ENST00000426833,p.A256S|uc002ujl.4,p.A274S|NM_001256092,p.A216S|ENST00000538946,p.A256S|uc002ujv.4,p.A21S|ENST00000409437,p.A158S|uc002ujm.4,p.A216S|uc010fqv.4,p.A225S|ENST00000429579,p.A274S|uc002ujq.4,p.A274S|uc002ujs.4,p.A216S|NM_001880,p.A274S|uc002ujw.2,p.A216S|ENST00000264110,p.A274S|NM_001256093,p.A216S|ENST00000392544,p.A274S|ENST00000409635,p.A216S|NM_001256091,p.A256S|ENST00000428760,p.A274S|uc010fqu.4,p.A256S|ENST00000417080,p.A274S|ENST00000345739,p.A216S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fqv.4	nonsynonymous SNV	exon10	c.G673T	p.A225S	PGPSSPQPVQSEAKMRLKAALTQQH	PGPSSPQPVQSESKMRLKAALTQQH	7.0	7.0	unscreened	-	4242_2:175976304-175976304 C>A_PGPSSPQPVQSESKMRLKAALTQQH
19:6924875-6924875 G>T	0.0	4242	GASTRIC	-	-	-	-	EMR1	NM_001974,p.D660Y|uc010dvb.4,p.D608Y|uc010xji.3,p.D519Y|NM_001256254,p.D519Y|ENST00000450315,p.D483Y|ENST00000312053,p.D660Y|uc010xjj.3,p.D483Y|NM_001256255,p.D483Y|ENST00000381404,p.D608Y|NM_001256252,p.D608Y|uc002mfw.4,p.D660Y|ENST00000381407,p.D519Y	retained_intron, protein_coding, processed_transcript	uc010xjj.3	nonsynonymous SNV	exon12	c.G1447T	p.D483Y	AKTLFLAGIHKTDNKMGCAIIAGFL	AKTLFLAGIHKTYNKMGCAIIAGFL	1.0	10.0	-	-	4242_19:6924875-6924875 G>T_AKTLFLAGIHKTYNKMGCAIIAGFL
20:42935723-42935723 A>C	0.0	4242	GASTRIC	-	-	-	-	FITM2	uc002xlr.1,p.F111V|ENST00000396825,p.F111V|NM_001080472,p.F111V	protein_coding	uc002xlr.1	nonsynonymous SNV	exon2	c.T331G	p.F111V	VGTAIWYICTSIFSNIEHYTGSCYQ	VGTAIWYICTSIVSNIEHYTGSCYQ	5.0	3.0	-	-	4242_20:42935723-42935723 A>C_VGTAIWYICTSIVSNIEHYTGSCYQ
20:62899240-62899240 T>G	0.0	4242	GASTRIC	-	-	-	-	PCMTD2	NM_018257,p.L195V|ENST00000299468,p.L195V|uc002yil.4,p.L195V|ENST00000308824,p.L195V	protein_coding	uc002yil.4	nonsynonymous SNV	exon5	c.T583G	p.L195V	VGGILVMPLEEKLTKITRTGPSAWE	VGGILVMPLEEKVTKITRTGPSAWE	8.0	2.0	-	-	4242_20:62899240-62899240 T>G_VGGILVMPLEEKVTKITRTGPSAWE
2:241679504-241679504 C>T	1.0	4242	GASTRIC	0.0	-	-	-	KIF1A	NM_001244008,p.R1291H|ENST00000404283,p.R1291H|NM_004321,p.R1190H|ENST00000320389,p.R1190H|uc002vzz.2,p.R1291H|uc010fzk.3,p.R1291H|uc031rsb.1,p.R1190H|ENST00000498729,p.R1291H	retained_intron, protein_coding	uc031rsb.1	nonsynonymous SNV	exon34	c.G3569A	p.R1190H	TVTLLHETGSHIRWKEVRELVVGRI	TVTLLHETGSHIHWKEVRELVVGRI	8.0	6.0	-	-	4242_2:241679504-241679504 C>T_TVTLLHETGSHIHWKEVRELVVGRI
X:73812770-73812770 C>T	0.0	4242	GASTRIC	-	-	ID=COSM1558973;OCCURENCE=1(lung)	-	RLIM	ENST00000349225,p.R127Q|uc004ebw.3,p.R127Q|uc004ebu.3,p.R127Q|ENST00000332687,p.R127Q|NM_016120,p.R127Q|NM_183353,p.R127Q	protein_coding	uc004ebw.3	nonsynonymous SNV	exon4	c.G380A	p.R127Q	GQRGNQSWRAVSRTNPNSGDFRFSL	GQRGNQSWRAVSQTNPNSGDFRFSL	6.0	10.0	-	-	4242_X:73812770-73812770 C>T_GQRGNQSWRAVSQTNPNSGDFRFSL
1:27106742-27106742 T>A	0.0	4242	GASTRIC	-	-	-	1	ARID1A	ENST00000374152,p.V1735D|ENST00000324856,p.V2118D|ENST00000457599,p.V1901D|uc001bmv.1,p.V2118D|NM_006015,p.V2118D|uc009vsm.1,p.V446D|uc009vsn.1,p.V360D|uc001bmx.1,p.V964D|ENST00000540690,p.V446D|uc001bmu.1,p.V1901D|NM_139135,p.V1901D	retained_intron, protein_coding, nonsense_mediated_decay	uc009vsn.1	nonsynonymous SNV	exon4	c.T1079A	p.V360D	LGPNAVLSPQRLVLETLSKLSIQDN	LGPNAVLSPQRLDLETLSKLSIQDN	9.0	10.0	-	-	4242_1:27106742-27106742 T>A_LGPNAVLSPQRLDLETLSKLSIQDN
6:75866059-75866059 A>C	0.0	4242	GASTRIC	-	-	-	-	COL12A1	ENST00000416123,p.L1055R|ENST00000483888,p.L1055R|ENST00000322507,p.L1055R|uc021zbv.1,p.L1055R|NM_004370,p.L1055R|uc003phs.3,p.L1055R	retained_intron, protein_coding, processed_transcript	uc021zbv.1	nonsynonymous SNV	exon14	c.T3164G	p.L1055R	VPPTVTSTVLKRLQPQTTYDITVLP	VPPTVTSTVLKRRQPQTTYDITVLP	7.0	2.0	-	-	4242_6:75866059-75866059 A>C_VPPTVTSTVLKRRQPQTTYDITVLP
4:37440878-37440878 G>A	0.0	4242	GASTRIC	-	-	-	-	NWD2	uc011bxz.2,p.E388K|ENST00000309447,p.E388K|NM_001144990,p.E388K	protein_coding	uc011bxz.2	nonsynonymous SNV	exon6	c.G1162A	p.E388K	HSSLCKTYASFYEYKCESLNIVHNY	HSSLCKTYASFYKYKCESLNIVHNY	1.0	7.0	-	-	4242_4:37440878-37440878 G>A_HSSLCKTYASFYKYKCESLNIVHNY
17:80046133-80046133 C>T	0.0	4242	GASTRIC	-	-	-	-	FASN	uc002kdu.3,p.G882S|ENST00000306749,p.G882S|NM_004104,p.G882S|uc002kdw.1,p.G98S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kdw.1	nonsynonymous SNV	exon3	c.G292A	p.G98S	SPDHYLVDHTLDGRVLFPATGYLSI	SPDHYLVDHTLDSRVLFPATGYLSI	10.0	2.0	unscreened	-	4242_17:80046133-80046133 C>T_SPDHYLVDHTLDSRVLFPATGYLSI
1:172501625-172501625 T>G	0.0	4242	GASTRIC	-	-	-	-	SUCO	ENST00000367723,p.L5V|NM_016227,p.L5V	protein_coding, processed_transcript	NM_016227	nonsynonymous SNV	exon1	c.T13G	p.L5V	MRGFLARPFLSTNQHLA	MRGFVARPFLSTNQHLA	6.0	8.0	unscreened	-	4242_1:172501625-172501625 T>G_MRGFVARPFLSTNQHLA
7:142561954-142561954 C>-	0.0	4242	GASTRIC	-	-	-	-	EPHB6	ENST00000392957,p.Y132fs|NM_004445,p.Y132fs|uc011ksu.2,p.Y132fs|ENST00000442129,p.Y132fs|uc011kst.2,p.Y132fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ksu.2	frameshift deletion	exon7	c.396delC	p.Y132fs	SGGTCRETFTLYYRQAEEPDSPDSV	SGGTCRETFTLYYVRLRSPTALTAFPPGTSNAGPRWTQLQQTRAFPPPPPPPPLLPLQRGLWDPTGLGSGLDCN	2.0	8.0	-	-	4242_7:142561954-142561954 C>-_SGGTCRETFTLYYVRLRSPTALTAFPPGTSNAGPRWTQLQQTRAFPPPPPPPPLLPLQRGLWDPTGLGSGLDCN
15:84909839-84909839 A>C	0.0	4242	GASTRIC	-	-	-	-	GOLGA6L4	uc021stn.2,p.Q353H|NM_001267536,p.Q489H|ENST00000510439,p.Q489H|ENST00000422563,p.Q165H	retained_intron, protein_coding	uc021stn.2	nonsynonymous SNV	exon10	c.A1059C	p.Q353H	NNENKSTLQLEQQVKELKKSGGAEE	NNENKSTLQLEQHVKELKKSGGAEE	7.0	1.0	-	-	4242_15:84909839-84909839 A>C_NNENKSTLQLEQHVKELKKSGGAEE
15:84909839-84909839 A>C	0.0	4242	GASTRIC	-	-	-	-	GOLGA6L4	ENST00000424966,p.Q70H	retained_intron, protein_coding	ENST00000424966	nonsynonymous SNV	exon3	c.A210C	p.Q70H	NNENKSTLQLEQQVKELKKSGELKE	NNENKSTLQLEQHVKELKKSGELKE	7.0	1.0	-	-	4242_15:84909839-84909839 A>C_NNENKSTLQLEQHVKELKKSGELKE
5:150275411-150275411 G>T	0.0	4242	GASTRIC	-	-	-	-	ZNF300	ENST00000418587,p.P428T|ENST00000274599,p.P464T|NM_001172831,p.P480T|ENST00000394226,p.P464T|uc021yfx.1,p.P480T|NM_001172832,p.P428T|ENST00000446148,p.P480T|uc021yfy.1,p.P464T|NM_052860,p.P464T|uc021yfz.1,p.P428T	protein_coding	uc021yfz.1	nonsynonymous SNV	exon5	c.C1282A	p.P428T	LITHQLVHTGEKPYECTECGKTFSR	LITHQLVHTGEKTYECTECGKTFSR	2.0	6.0	-	-	4242_5:150275411-150275411 G>T_LITHQLVHTGEKTYECTECGKTFSR
18:74963124-74963124 T>C	0.0	4242	GASTRIC	-	-	-	-	GALR1	uc002lms.4,p.F207S|NM_001480,p.F207S|ENST00000299727,p.F207S	protein_coding, processed_transcript	uc002lms.4	nonsynonymous SNV	exon1	c.T620C	p.F207S	RHKKAYVVCTFVFGYLLPLLLICFC	RHKKAYVVCTFVSGYLLPLLLICFC	1.0	9.0	-	-	4242_18:74963124-74963124 T>C_RHKKAYVVCTFVSGYLLPLLLICFC
20:2637518-2637518 G>A	1.0	4242	GASTRIC	-	-	-	-	NOP56	NM_006392,p.V420I|uc002wgh.3,p.V420I|ENST00000329276,p.V420I|uc002wgi.3,p.V254I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002wgi.3	nonsynonymous SNV	exon9	c.G760A	p.V254I	YETGEIPRKNLDVMKEAMVQAEEAA	YETGEIPRKNLDIMKEAMVQAEEAA	10.0	3.0	-	-	4242_20:2637518-2637518 G>A_YETGEIPRKNLDIMKEAMVQAEEAA
7:142561954-142561954 C>-	0.0	4242	GASTRIC	-	-	-	-	EPHB6	ENST00000422643,p.Y132fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000422643	frameshift deletion	exon4	c.396delC	p.Y132fs	SGGTCRETFTLYYRQAEEPDSPDSV	SGGTCRETFTLYYVRLRSPTALTAFPPGTSNAGPRDAGQWGWGGLPGGSCGHLCGSCRARGGWS	2.0	8.0	unscreened	-	4242_7:142561954-142561954 C>-_SGGTCRETFTLYYVRLRSPTALTAFPPGTSNAGPRDAGQWGWGGLPGGSCGHLCGSCRARGGWS
6:72960093-72960093 G>T	0.0	4242	GASTRIC	-	-	-	-	RIMS1	ENST00000517960,p.D768Y|ENST00000523963,p.D242Y|uc010kaq.3,p.D242Y|ENST00000518273,p.D768Y|ENST00000522291,p.D768Y|NM_001168407,p.D242Y|NM_001168410,p.D227Y|uc003pgc.3,p.D394Y|ENST00000264839,p.D768Y|ENST00000425662,p.D161Y|uc011dyb.2,p.D394Y|uc003pga.4,p.D768Y|ENST00000521978,p.D768Y|ENST00000401910,p.D242Y|NM_014989,p.D768Y|uc010kas.1,p.D227Y|NM_001168408,p.D242Y|uc003pgb.4,p.D394Y|ENST00000520567,p.D768Y|ENST00000453976,p.D161Y|NM_001168409,p.D161Y|ENST00000348717,p.D768Y|uc011dyd.2,p.D227Y|uc010kar.3,p.D161Y|ENST00000491071,p.D768Y|uc011dyc.2,p.D242Y|ENST00000517827,p.D227Y	retained_intron, protein_coding, processed_transcript	uc011dyd.2	nonsynonymous SNV	exon8	c.G679T	p.D227Y	GHQLIVNVLQATDLPARVDGRPRNP	GHQLIVNVLQATYLPARVDGRPRNP	1.0	3.0	-	-	4242_6:72960093-72960093 G>T_GHQLIVNVLQATYLPARVDGRPRNP
7:92731893-92731893 C>A	0.0	4242	GASTRIC	-	-	-	-	SAMD9	uc003umf.3,p.R1173I|ENST00000379958,p.R1173I|uc003umg.3,p.R1173I|NM_017654,p.R1173I|ENST00000446617,p.R1173I|NM_001193307,p.R1173I|uc022ahg.1,p.R1173I	protein_coding	uc022ahg.1	nonsynonymous SNV	exon1	c.G3518T	p.R1173I	SAFKESQQQSEDREYEVKERLYPKS	SAFKESQQQSEDIEYEVKERLYPKS	5.0	1.0	-	-	4242_7:92731893-92731893 C>A_SAFKESQQQSEDIEYEVKERLYPKS
16:67213776-67213776 T>G	0.0	4242	GASTRIC	-	-	-	-	KIAA0895L	ENST00000569349,p.S137R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000569349	nonsynonymous SNV	exon4	c.A409C	p.S137R	TLRLPLGGSCSPSARYGRLCANTCR	TLRLPLGGSCSPRARYGRLCANTCR	7.0	7.0	unscreened	-	4242_16:67213776-67213776 T>G_TLRLPLGGSCSPRARYGRLCANTCR
8:110431342-110431342 A>G	0.0	4242	GASTRIC	-	-	-	-	PKHD1L1	NM_177531,p.I793V|ENST00000378402,p.I793V|uc003yne.3,p.I793V	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon22	c.A2377G	p.I793V	NFAYGNNWTYTCIDLLDLVRTKYTG	NFAYGNNWTYTCVDLLDLVRTKYTG	1.0	1.0	-	-	4242_8:110431342-110431342 A>G_NFAYGNNWTYTCVDLLDLVRTKYTG
4:190873335-190873335 C>T	0.0	4242	GASTRIC	-	-	-	-	FRG1	ENST00000226798,p.T51I|NM_004477,p.T51I|uc003izs.3,p.T51I	protein_coding, processed_transcript, nonsense_mediated_decay	uc003izs.3	nonsynonymous SNV	exon3	c.C152T	p.T51I	TQLDIVGIWWTVTNFGEISGTIAIE	TQLDIVGIWWTVINFGEISGTIAIE	10.0	2.0	unscreened	-	4242_4:190873335-190873335 C>T_TQLDIVGIWWTVINFGEISGTIAIE
5:142311620-142311620 T>C	0.0	4242	GASTRIC	-	-	-	1	ARHGAP26	uc011dbj.2,p.V346A|ENST00000274498,p.V346A|NM_015071,p.V346A|uc003lmw.3,p.V346A|uc003lmt.3,p.V346A|NM_001135608,p.V346A|ENST00000451259,p.V47A|ENST00000378004,p.V346A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dbj.2	nonsynonymous SNV	exon11	c.T1037C	p.V346A	FCFDVEAVDRPGVITMQALSEEDRR	FCFDVEAVDRPGAITMQALSEEDRR	9.0	7.0	-	-	4242_5:142311620-142311620 T>C_FCFDVEAVDRPGAITMQALSEEDRR
19:45899871-45899871 G>A	0.0	4242	GASTRIC	-	-	-	-	PPP1R13L	NM_001142502,p.A215V|uc002pbo.3,p.A215V|uc002pbp.2,p.A215V|uc002pbn.3,p.A215V|ENST00000418234,p.A215V|NM_006663,p.A215V|ENST00000360957,p.A215V	retained_intron, protein_coding	uc002pbp.2	nonsynonymous SNV	exon4	c.C644T	p.A215V	SPRPPATAYDAPASAFGSSLLGSGG	SPRPPATAYDAPVSAFGSSLLGSGG	8.0	6.0	-	-	4242_19:45899871-45899871 G>A_SPRPPATAYDAPVSAFGSSLLGSGG
3:121976013-121976013 T>G	0.0	4242	GASTRIC	-	-	-	-	CASR	ENST00000490131,p.L91V|ENST00000296154,p.L91V|uc003eev.4,p.L91V|NM_001178065,p.L91V|NM_000388,p.L91V|uc003eew.4,p.L91V|ENST00000498619,p.L91V	retained_intron, protein_coding	uc003eew.4	nonsynonymous SNV	exon3	c.T271G	p.L91V	EEINSSPALLPNLTLGYRIFDTCNT	EEINSSPALLPNVTLGYRIFDTCNT	1.0	5.0	-	-	4242_3:121976013-121976013 T>G_EEINSSPALLPNVTLGYRIFDTCNT
17:2603984-2603984 G>C	0.0	4242	GASTRIC	-	-	-	-	CLUH	ENST00000572129,p.T111R	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000572129	nonsynonymous SNV	exon3	c.C332G	p.T111R	RTPTPRGWAMRSTFLDRPETGMRSC	RTPTPRGWAMRSRFLDRPETGMRSC	9.0	1.0	unscreened	-	4242_17:2603984-2603984 G>C_RTPTPRGWAMRSRFLDRPETGMRSC
11:1016654-1016656 TGG>-	0.0	4242	GASTRIC	-	-	-	-	MUC6	uc001lsw.2,p.2049_2049del|ENST00000421673,p.2049_2049del|NM_005961,p.2049_2049del	protein_coding	uc001lsw.2	nonframeshift deletion	exon31	c.6145_6147del	p.2049_2049del	SIHSTPTGTVPPPTTLKATGSTHTA	SIHSTPTGTVPPTTLKATGSTHTAP	3.0	1.0	unscreened	-	4242_11:1016654-1016656 TGG>-_SIHSTPTGTVPPTTLKATGSTHTAP
1:109825302-109825302 C>A	0.0	4242	GASTRIC	-	-	-	-	PSRC1	ENST00000369907,p.D7Y|uc001dxf.3,p.D7Y|ENST00000409267,p.D7Y|NM_001005290,p.D7Y|ENST00000369909,p.D7Y|NM_001032291,p.D7Y|ENST00000418914,p.D7Y|ENST00000369904,p.D7Y|NM_032636,p.D7Y|uc001dxc.3,p.D7Y|uc001dxj.3,p.D7Y|ENST00000429031,p.D7Y|ENST00000369903,p.D7Y|uc001dxd.3,p.D7Y|ENST00000409138,p.D7Y|ENST00000438534,p.D7Y	retained_intron, protein_coding	uc001dxj.3	nonsynonymous SNV	exon2	c.G19T	p.D7Y	MEDLEEDVRFIVDETLDFG	MEDLEEYVRFIVDETLDFG	7.0	9.0	-	-	4242_1:109825302-109825302 C>A_MEDLEEYVRFIVDETLDFG
10:31809248-31809248 C>T	0.0	4242	GASTRIC	-	-	ID=COSM185473;OCCURENCE=1(large_intestine)	2	ZEB1	ENST00000446923,p.R313W|uc001ivu.4,p.R330W|NM_001128128,p.R313W|uc001ivv.4,p.R309W|NM_001174096,p.R330W|uc010qeh.2,p.R262W|NM_001174095,p.R262W|uc001ivs.4,p.R329W|ENST00000561212,p.R337W|NM_001174093,p.R309W|ENST00000361642,p.R330W|uc009xlo.2,p.R312W|uc010qef.2,p.R111W|ENST00000542815,p.R262W|NM_030751,p.R329W|uc009xlj.1,p.R255W|uc009xlp.3,p.R313W|ENST00000560721,p.R309W|uc010qeg.1,p.R188W|uc009xlk.1,p.R111W|ENST00000320985,p.R329W|NM_001174094,p.R312W|ENST00000558440,p.R255W|uc001ivt.4,p.R111W|uc001ivr.4,p.R111W	retained_intron, protein_coding, processed_transcript	uc010qeh.2	nonsynonymous SNV	exon6	c.C784T	p.R262W	SASPGSPTRPQIRQKIENKPLQEQL	SASPGSPTRPQIWQKIENKPLQEQL	7.0	9.0	-	-	4242_10:31809248-31809248 C>T_SASPGSPTRPQIWQKIENKPLQEQL
12:65232540-65232540 C>A	0.0	4242	GASTRIC	-	-	-	-	TBC1D30	ENST00000229088,p.Q444K|NM_015279,p.Q281K|uc010sst.2,p.Q281K|ENST00000542120,p.Q167K|uc001ssh.2,p.Q167K|uc010sss.2,p.Q239K|uc001ssi.2,p.Q281K|ENST00000539867,p.Q281K	protein_coding, processed_transcript	uc010sst.2	nonsynonymous SNV	exon7	c.C841A	p.Q281K	WFLTLFATCLPNQTVLKIWDSVFFE	WFLTLFATCLPNKTVLKIWDSVFFE	2.0	3.0	unscreened	-	4242_12:65232540-65232540 C>A_WFLTLFATCLPNKTVLKIWDSVFFE
20:20226767-20226810 CATGAAGTTTAATAATCTTACCCTGATTTCAACTCATGGACTCC>-	0.0	4242	GASTRIC	-	-	-	-	CFAP61	ENST00000389656,p.H45fs|uc002wrv.3,p.H45fs|uc010zse.2,p.H669fs|NM_015585,p.H689fs|ENST00000377309,p.H45fs|uc002wru.3,p.H689fs|ENST00000245957,p.H689fs|ENST00000377293,p.H45fs|ENST00000377308,p.H45fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zse.2	frameshift deletion	exon19	c.2007_2050del	p.H669fs	GISFLETLVFCSHMKFNNLTLISTH	GISFLETLVFCSHRKKTSGH	1.0	1.0	-	-	4242_20:20226767-20226810 CATGAAGTTTAATAATCTTACCCTGATTTCAACTCATGGACTCC>-_GISFLETLVFCSHRKKTSGH
20:20269265-20269265 T>G	0.0	4242	GASTRIC	-	-	-	-	CFAP61	uc002wru.3,p.F937V|ENST00000245957,p.F937V|NM_015585,p.F937V	protein_coding, processed_transcript, nonsense_mediated_decay	uc002wru.3	nonsynonymous SNV	exon23	c.T2809G	p.F937V	KPFRLQCSMFFSFCEKNVDYETFKA	KPFRLQCSMFFSVCEKNVDYETFKA	1.0	4.0	-	-	4242_20:20269265-20269265 T>G_KPFRLQCSMFFSVCEKNVDYETFKA
18:77171465-77171465 C>T	0.0	4242	GASTRIC	0.0018	-	-	-	NFATC1	uc002lnd.3,p.A397V|ENST00000586434,p.A384V|uc010xfg.2,p.A397V|ENST00000318065,p.A384V|uc010xff.1,p.A397V|NM_172389,p.A384V|NM_001278670,p.A397V|ENST00000329101,p.A384V|uc002lng.3,p.A384V|ENST00000427363,p.A397V|uc010xfk.2,p.A384V|uc010xfh.2,p.A397V|NM_006162,p.A397V|ENST00000591814,p.A397V|NM_172387,p.A384V|ENST00000542384,p.A397V|ENST00000253506,p.A397V|NM_001278675,p.A384V|NM_001278669,p.A397V|NM_172390,p.A397V|uc002lnc.1,p.A397V|uc002lnf.3,p.A384V|NM_001278672,p.A384V|uc010xfi.1,p.A384V|ENST00000592223,p.A384V|ENST00000587635,p.A397V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xfk.2	nonsynonymous SNV	exon2	c.C1151T	p.A384V	QYLAVPQHPYQWAKPKPLSPTSYMS	QYLAVPQHPYQWVKPKPLSPTSYMS	6.0	8.0	-	-	4242_18:77171465-77171465 C>T_QYLAVPQHPYQWVKPKPLSPTSYMS
13:49077000-49077000 G>A	0.0	4242	GASTRIC	-	-	-	-	RCBTB2	NM_001286830,p.T331M|uc010tgg.2,p.T331M|uc001vch.3,p.T326M|ENST00000544492,p.T52M|ENST00000344532,p.T326M|uc010tgh.2,p.T52M|ENST00000430805,p.T331M|NM_001286832,p.T52M|uc001vci.3,p.T302M|NM_001286831,p.T302M|NM_001268,p.T326M	protein_coding, processed_transcript	uc010tgh.2	nonsynonymous SNV	exon6	c.C155T	p.T52M	AACHSTHTSAAKTQGGHVYMWGQCR	AACHSTHTSAAKMQGGHVYMWGQCR	3.0	9.0	-	-	4242_13:49077000-49077000 G>A_AACHSTHTSAAKMQGGHVYMWGQCR
13:49077000-49077000 G>A	0.0	4242	GASTRIC	-	-	-	-	RCBTB2	uc001vcj.3,p.T278M	protein_coding, processed_transcript	uc001vcj.3	nonsynonymous SNV	exon7	c.C833T	p.T278M	VPCHSTHTSAAKTQGGHVYMWGQCR	VPCHSTHTSAAKMQGGHVYMWGQCR	3.0	9.0	-	-	4242_13:49077000-49077000 G>A_VPCHSTHTSAAKMQGGHVYMWGQCR
8:104383942-104383953 CTGCTGCTGCAG>-	0.0	4242	GASTRIC	-	-	-	-	CTHRC1	ENST00000330295,p.20_23del|uc003ylk.4,p.20_23del|NM_138455,p.20_23del|ENST00000415886,p.20_23del|uc011lhq.2,p.20_23del	protein_coding	uc011lhq.2	nonframeshift deletion	exon1	c.58_69del	p.20_23del	ASPQRLRGLLLLLLLQLPAPSSASE	ASPQRLRGLLLLLPAPSSASEIPKG	7.0	10.0	-	-	4242_8:104383942-104383953 CTGCTGCTGCAG>-_ASPQRLRGLLLLLPAPSSASEIPKG
19:22941153-22941153 G>T	0.0	4242	GASTRIC	-	-	-	-	ZNF99	NM_001080409,p.H520N|ENST00000397104,p.H429N|uc021urt.1,p.H520N|ENST00000596209,p.H520N	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.C1558A	p.H520N	PCKCEECGKAFKHFSALRKHKIIHT	PCKCEECGKAFKNFSALRKHKIIHT	3.0	1.0	unscreened	-	4242_19:22941153-22941153 G>T_PCKCEECGKAFKNFSALRKHKIIHT
7:65419353-65419353 ->TTA	1.0	4242	GASTRIC	-	-	ID=COSM1091309;OCCURENCE=1(endometrium)	-	VKORC1L1	ENST00000434382,p.F163delinsFI|NM_001284342,p.F163delinsFI|uc011kds.2,p.F163delinsFI	protein_coding	uc011kds.2	nonframeshift insertion	exon2	c.487_488insTTA	p.F163delinsFI	KPLSIQFILQQVFIIIIIIIIHNRH	KPLSIQFILQQVFIIIIIIIIIHNR	9.0	2.0	unscreened	-	4242_7:65419353-65419353 ->TTA_KPLSIQFILQQVFIIIIIIIIIHNR
17:80615999-80615999 G>T	1.0	4242	GASTRIC	-	-	-	-	RAB40B	ENST00000571995,p.Q193K|NM_006822,p.Q193K|uc002kft.3,p.Q193K|ENST00000269347,p.Q14K	retained_intron, protein_coding, processed_transcript	uc002kft.3	nonsynonymous SNV	exon6	c.C577A	p.Q193K	DRLWRPSKVLSLQDLCCRAVVSCTP	DRLWRPSKVLSLKDLCCRAVVSCTP	10.0	6.0	-	-	4242_17:80615999-80615999 G>T_DRLWRPSKVLSLKDLCCRAVVSCTP
11:111953242-111953242 C>T	1.0	4242	GASTRIC	-	-	-	-	C11orf57	NM_001082969,p.S143L|NM_001301017,p.S142L|ENST00000525785,p.S114L|uc001pmw.4,p.S143L|ENST00000532163,p.S114L|NM_001082970,p.S142L|ENST00000393047,p.S143L|ENST00000531378,p.S97L|ENST00000420986,p.S142L|uc001pmt.4,p.S143L|uc001pms.4,p.S114L|uc001pmv.4,p.S142L|uc001pmr.4,p.S142L|NM_001301021,p.S113L|NM_018195,p.S143L|NM_001301019,p.S114L|ENST00000280352,p.S142L	protein_coding, nonsense_mediated_decay	uc001pmw.4	nonsynonymous SNV	exon6	c.C428T	p.S143L	ITNGKKTSPQVKSSTHESRKHKKSK	ITNGKKTSPQVKLSTHESRKHKKSK	9.0	5.0	-	-	4242_11:111953242-111953242 C>T_ITNGKKTSPQVKLSTHESRKHKKSK
6:155109038-155109038 C>G	0.0	4242	GASTRIC	-	-	-	-	SCAF8	uc011efj.2,p.S134C|uc011efk.2,p.S113C|NM_001286194,p.S113C|NM_001286199,p.S68C|ENST00000417268,p.S68C|ENST00000367186,p.S134C|ENST00000367178,p.S68C|uc003qqa.3,p.S68C|uc010kji.3,p.S89C|NM_001286188,p.S146C|uc003qpz.3,p.S68C|NM_014892,p.S68C|NM_001286189,p.S134C	protein_coding, processed_transcript	uc011efk.2	nonsynonymous SNV	exon5	c.C338G	p.S113C	PEYKVPGLYVIDSIVRQSRHQFGQE	PEYKVPGLYVIDCIVRQSRHQFGQE	8.0	10.0	-	-	4242_6:155109038-155109038 C>G_PEYKVPGLYVIDCIVRQSRHQFGQE
10:105798837-105798837 G>A	0.0	4242	GASTRIC	-	-	-	-	COL17A1	NM_000494,p.P980L|ENST00000369733,p.P935L|uc001kxr.3,p.P980L|ENST00000353479,p.P980L	retained_intron, protein_coding, processed_transcript	uc001kxr.3	nonsynonymous SNV	exon44	c.C2939T	p.P980L	PGVPGALGIPSGPSEGGSSSTMYVS	PGVPGALGIPSGLSEGGSSSTMYVS	6.0	6.0	-	-	4242_10:105798837-105798837 G>A_PGVPGALGIPSGLSEGGSSSTMYVS
12:65232532-65232532 T>C	0.0	4242	GASTRIC	-	-	-	-	TBC1D30	uc001ssh.2,p.L164P|ENST00000539867,p.L278P|NM_015279,p.L278P|uc010sst.2,p.L278P|uc001ssi.2,p.L278P|uc010sss.2,p.L236P|ENST00000542120,p.L164P|ENST00000229088,p.L441P	protein_coding, processed_transcript	uc010sst.2	nonsynonymous SNV	exon7	c.T833C	p.L278P	TMQWFLTLFATCLPNQTVLKIWDSV	TMQWFLTLFATCPPNQTVLKIWDSV	2.0	3.0	unscreened	-	4242_12:65232532-65232532 T>C_TMQWFLTLFATCPPNQTVLKIWDSV
3:123451899-123451899 C>G	0.0	4242	GASTRIC	-	-	-	-	MYLK	uc003ego.3,p.V454L|NM_053027,p.V454L|uc011bjw.2,p.V454L|ENST00000360772,p.V454L|ENST00000360304,p.V454L|ENST00000359169,p.V454L|ENST00000475616,p.V454L|uc003egq.3,p.V454L|uc003egs.3,p.V278L|NM_053025,p.V454L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bjw.2	nonsynonymous SNV	exon8	c.G1360C	p.V454L	KPEVAWFLEGTPVRRQEGSIEVYED	KPEVAWFLEGTPLRRQEGSIEVYED	7.0	9.0	-	-	4242_3:123451899-123451899 C>G_KPEVAWFLEGTPLRRQEGSIEVYED
18:7012098-7012098 C>G	0.0	4242	GASTRIC	-	-	-	-	LAMA1	uc010wzj.2,p.G611R|NM_005559,p.G1135R|ENST00000389658,p.G1135R|uc002knm.3,p.G1135R	retained_intron, protein_coding	uc010wzj.2	nonsynonymous SNV	exon23	c.G1831C	p.G611R	NVFGPQCNECREGTFALRADNPLGC	NVFGPQCNECRERTFALRADNPLGC	2.0	4.0	-	-	4242_18:7012098-7012098 C>G_NVFGPQCNECRERTFALRADNPLGC
6:33763350-33763350 C>T	0.0	4242	GASTRIC	-	-	-	-	MLN	ENST00000430124,p.M89I|ENST00000266003,p.M89I|ENST00000507738,p.M89I|uc011drn.1,p.M89I|uc003off.1,p.M89I|NM_001040109,p.M89I|uc003ofg.1,p.M89I|NM_002418,p.M89I|NM_001184698,p.M89I	protein_coding	uc011drn.1	nonsynonymous SNV	exon4	c.G267A	p.M89I	IKLTAPLEIGMRMNSRQLEKYPATL	IKLTAPLEIGMRINSRQLEKYPATL	1.0	10.0	-	-	4242_6:33763350-33763350 C>T_IKLTAPLEIGMRINSRQLEKYPATL
9:33541216-33541216 G>C	0.0	4242	GASTRIC	-	-	-	-	ANKRD18B	ENST00000290943,p.G294R	retained_intron, protein_coding, processed_transcript	ENST00000290943	nonsynonymous SNV	exon7	c.G880C	p.G294R	RKKRKKLKKRKEGAKAEHNLKVASE	RKKRKKLKKRKERAKAEHNLKVASE	9.0	9.0	-	-	4242_9:33541216-33541216 G>C_RKKRKKLKKRKERAKAEHNLKVASE
4:184175017-184175017 T>G	0.0	4242	GASTRIC	-	-	-	-	WWC2	ENST00000513834,p.L354R|uc003ivk.4,p.L149R|ENST00000448232,p.L354R|uc010irx.3,p.L354R|uc010iry.3,p.L36R|NM_024949,p.L354R|ENST00000378925,p.L256R|ENST00000438543,p.L256R|ENST00000504005,p.L36R|ENST00000403733,p.L354R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iry.3	nonsynonymous SNV	exon2	c.T107G	p.L36R	KEKLMLINEKEELLKELQFVTPQKR	KEKLMLINEKEERLKELQFVTPQKR	5.0	10.0	-	-	4242_4:184175017-184175017 T>G_KEKLMLINEKEERLKELQFVTPQKR
17:7578271-7578271 T>C	0.0	4242	GASTRIC	-	-	ID=COSM3820719,COSM308308,COSM308307,COSM10742,COSM1740322,COSM308309,COSM308306;OCCURENCE=5(stomach),3(central_nervous_system),3(upper_aerodigestive_tract),2(NS),8(oesophagus),12(lung),8(haematopoietic_and_lymphoid_tissue),14(ovary),2(endometrium),16(breast),4(urinary_tract),2(liver),2(prostate),1(biliary_tract),5(large_intestine)	1	TP53	NM_001276698,p.H34R|uc010cng.2,p.H34R|uc010cnf.2,p.H34R|NM_001126115,p.H61R|NM_001276697,p.H34R|NM_000546,p.H193R|ENST00000514944,p.H100R|uc002gin.3,p.H100R|NM_001276761,p.H154R|NM_001126117,p.H61R|NM_001126114,p.H193R|NM_001276699,p.H34R|NM_001276695,p.H154R|ENST00000269305,p.H193R|ENST00000509690,p.H61R|uc002gih.3,p.H193R|ENST00000413465,p.H193R|ENST00000359597,p.H193R|uc002gii.2,p.H34R|uc002gig.1,p.H193R|ENST00000455263,p.H193R|NM_001126112,p.H193R|NM_001126113,p.H193R|uc002gio.3,p.H61R|uc031qyq.1,p.H154R|uc002gij.3,p.H154R|ENST00000445888,p.H193R|NM_001126116,p.H61R|NM_001126118,p.H154R|NM_001276696,p.H154R|uc010vug.3,p.H154R|NM_001276760,p.H154R|ENST00000420246,p.H193R	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon5	c.A461G	p.H154R	RCSDSDGLAPPQHLIRVEGNLRVEY	RCSDSDGLAPPQRLIRVEGNLRVEY	10.0	10.0	-	-	4242_17:7578271-7578271 T>C_RCSDSDGLAPPQRLIRVEGNLRVEY
14:33290855-33290855 C>A	0.0	4242	GASTRIC	-	-	-	-	AKAP6	ENST00000280979,p.A1279D|NM_004274,p.A1279D|uc001wrq.3,p.A1279D	retained_intron, protein_coding, processed_transcript	uc001wrq.3	nonsynonymous SNV	exon13	c.C3836A	p.A1279D	NHGGSQYASNITAPSSPHIYQVYSL	NHGGSQYASNITDPSSPHIYQVYSL	3.0	4.0	-	-	4242_14:33290855-33290855 C>A_NHGGSQYASNITDPSSPHIYQVYSL
1:103345386-103345386 A>C	0.0	4242	GASTRIC	-	-	-	-	COL11A1	NM_001854,p.N1709K|NM_001190709,p.N1670K|NM_080629,p.N1721K|ENST00000512756,p.N1593K|ENST00000358392,p.N1721K|ENST00000353414,p.N1670K|uc001dun.3,p.N1670K|uc001duk.3,p.N905K|uc001dum.3,p.N1721K|NM_080630,p.N1593K|uc009weh.3,p.N1593K|uc001dul.3,p.N1709K|ENST00000370096,p.N1709K	retained_intron, protein_coding, processed_transcript	uc009weh.3	nonsynonymous SNV	exon64	c.T4779G	p.N1593K	TFLKLLTASARQNFTYHCHQSAAWY	TFLKLLTASARQKFTYHCHQSAAWY	1.0	10.0	-	-	4242_1:103345386-103345386 A>C_TFLKLLTASARQKFTYHCHQSAAWY
3:121435868-121435868 T>C	0.0	4242	GASTRIC	-	-	-	-	GOLGB1	uc010hrc.4,p.E335G|ENST00000340645,p.E330G|ENST00000494517,p.E294G|uc010hrd.2,p.E294G|uc003eej.5,p.E296G|NM_001256488,p.E255G|NM_001256487,p.E296G|uc003eei.5,p.E330G|uc021xcy.2,p.E255G|NM_001256486,p.E335G|uc011bjm.1,p.E216G|ENST00000393667,p.E335G|NM_004487,p.E330G	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xcy.2	nonsynonymous SNV	exon8	c.A764G	p.E255G	KILLEKMELEVAERKLSFHNLQEEM	KILLEKMELEVAGRKLSFHNLQEEM	8.0	4.0	-	-	4242_3:121435868-121435868 T>C_KILLEKMELEVAGRKLSFHNLQEEM
5:126753490-126753490 ->C	0.0	4242	GASTRIC	-	-	-	-	MEGF10	ENST00000274473,p.A431fs|ENST00000508365,p.A431fs|NM_001256545,p.A431fs|uc003kuh.4,p.A431fs|uc010jdc.1,p.A431fs|uc003kui.4,p.A431fs|ENST00000418761,p.A431fs|ENST00000503335,p.A431fs|uc010jdd.1,p.A431fs|NM_032446,p.A431fs	retained_intron, protein_coding, processed_transcript	uc010jdd.1	frameshift insertion	exon10	c.1292dupC	p.A431fs	ADCDSVTGKCTCAPGFKGIDCSTPC	ADCDSVTGKCTCAPRIQRN	1.0	1.0	-	-	4242_5:126753490-126753490 ->C_ADCDSVTGKCTCAPRIQRN
5:35774027-35774027 G>A	0.0	4242	GASTRIC	-	-	-	-	SPEF2	uc003jjp.1,p.V814I|ENST00000356031,p.V1328I|ENST00000440995,p.V1323I|uc003jjo.3,p.V1328I|NM_024867,p.V1328I	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjp.1	nonsynonymous SNV	exon18	c.G2440A	p.V814I	KGKSPPMAEATPVIVTTEEIAEIKR	KGKSPPMAEATPIIVTTEEIAEIKR	9.0	10.0	-	-	4242_5:35774027-35774027 G>A_KGKSPPMAEATPIIVTTEEIAEIKR
1:53352699-53352699 C>T	0.0	4242	GASTRIC	-	-	-	-	ZYG11A	uc001cuk.2,p.A693V|ENST00000371528,p.A693V|ENST00000371532,p.A351V|NM_001004339,p.A693V|uc001cul.2,p.A351V	protein_coding	uc001cul.2	nonsynonymous SNV	exon12	c.C1052T	p.A351V	FSQPEVQLWALWAMYHVCSKNPSKY	FSQPEVQLWALWVMYHVCSKNPSKY	1.0	8.0	-	-	4242_1:53352699-53352699 C>T_FSQPEVQLWALWVMYHVCSKNPSKY
20:10628655-10628655 T>G	0.0	4242	GASTRIC	-	-	-	-	JAG1	ENST00000254958,p.K558T|ENST00000423891,p.K399T|uc010gcd.1,p.K116T|NM_000214,p.K558T|uc002wnw.2,p.K558T	protein_coding, processed_transcript	uc010gcd.1	nonsynonymous SNV	exon5	c.A347C	p.K116T	DYFCKCPEDYEGKNCSHLKDHCRTT	DYFCKCPEDYEGTNCSHLKDHCRTT	8.0	4.0	-	-	4242_20:10628655-10628655 T>G_DYFCKCPEDYEGTNCSHLKDHCRTT
1:225534054-225534054 T>G	0.0	4242	GASTRIC	-	-	-	-	DNAH14	NM_001373,p.I3597R|ENST00000430092,p.I3597R|ENST00000445597,p.I2794R|ENST00000439375,p.I3597R|uc001how.2,p.I3597R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon68	c.T10790G	p.I3597R	EKNLLDKHIKSAIDMLTKSIFKVVS	EKNLLDKHIKSARDMLTKSIFKVVS	1.0	8.0	-	-	4242_1:225534054-225534054 T>G_EKNLLDKHIKSARDMLTKSIFKVVS
17:56353009-56353009 A>C	0.0	4242	GASTRIC	-	-	-	-	MPO	ENST00000225275,p.L420R|NM_000250,p.L420R|uc002ivu.1,p.L420R|ENST00000340482,p.L452R	retained_intron, protein_coding, processed_transcript	uc002ivu.1	nonsynonymous SNV	exon8	c.T1259G	p.L420R	EMPELTSMHTLLLREHNRLATELKS	EMPELTSMHTLLRREHNRLATELKS	1.0	5.0	-	-	4242_17:56353009-56353009 A>C_EMPELTSMHTLLRREHNRLATELKS
7:103234875-103234875 G>C	0.0	4242	GASTRIC	-	-	-	-	RELN	NM_005045,p.P1202A|uc022ajq.1,p.P1202A|ENST00000428762,p.P1202A|uc022ajr.1,p.P1202A|uc010liz.3,p.P1202A|ENST00000343529,p.P1202A|NM_173054,p.P1202A|ENST00000424685,p.P1202A	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon26	c.C3604G	p.P1202A	AKTPCTRFRWWQPVFSGEDYDQWAV	AKTPCTRFRWWQAVFSGEDYDQWAV	1.0	9.0	-	-	4242_7:103234875-103234875 G>C_AKTPCTRFRWWQAVFSGEDYDQWAV
7:122635073-122635073 G>T	0.0	4242	GASTRIC	-	-	-	-	TAS2R16	NM_016945,p.Q206K|uc003vkl.1,p.Q206K|ENST00000249284,p.Q206K	protein_coding	uc003vkl.1	nonsynonymous SNV	exon1	c.C616A	p.Q206K	ASTIFLMASLTKQIQHHSTGHCNPS	ASTIFLMASLTKKIQHHSTGHCNPS	1.0	10.0	-	-	4242_7:122635073-122635073 G>T_ASTIFLMASLTKKIQHHSTGHCNPS
3:124431814-124431814 A>G	0.0	4242	GASTRIC	-	-	-	-	KALRN	NM_001024660,p.H2703R|NM_007064,p.H1006R|uc003ehg.3,p.H2703R|uc003ehk.3,p.H1006R|ENST00000428018,p.H974R|ENST00000291478,p.H1006R|ENST00000360013,p.H2703R	retained_intron, protein_coding, processed_transcript	uc003ehk.3	nonsynonymous SNV	exon25	c.A3017G	p.H1006R	GRGRFSIVKKCIHKATRKDVAVKFV	GRGRFSIVKKCIRKATRKDVAVKFV	5.0	9.0	-	-	4242_3:124431814-124431814 A>G_GRGRFSIVKKCIRKATRKDVAVKFV
2:228167754-228167754 G>A	0.0	4242	GASTRIC	-	-	-	-	COL4A3	NM_000091,p.G1295R|ENST00000396578,p.G1295R|uc002vom.2,p.G1295R	retained_intron, protein_coding, processed_transcript	uc002vom.2	nonsynonymous SNV	exon44	c.G3883A	p.G1295R	GTAGDMGPPGRLGAPGTPGLPGPRG	GTAGDMGPPGRLRAPGTPGLPGPRG	1.0	9.0	-	-	4242_2:228167754-228167754 G>A_GTAGDMGPPGRLRAPGTPGLPGPRG
8:118184782-118184782 C>A	0.0	4242	GASTRIC	-	-	-	-	SLC30A8	uc011lia.2,p.S275R|NM_001172811,p.S275R|uc022bab.1,p.S275R|ENST00000456015,p.S324R|NM_001172814,p.S275R|ENST00000427715,p.S275R|NM_001172815,p.S275R|ENST00000519688,p.S275R|uc003yoh.3,p.S324R|uc010mcz.3,p.S275R|NM_001172813,p.S275R|ENST00000521243,p.S275R|uc003yog.3,p.S275R|NM_173851,p.S324R	retained_intron, protein_coding, processed_transcript	uc022bab.1	nonsynonymous SNV	exon9	c.C825A	p.S275R	QVILSAHVATAASRDSQVVRREIAK	QVILSAHVATAARRDSQVVRREIAK	5.0	2.0	-	-	4242_8:118184782-118184782 C>A_QVILSAHVATAARRDSQVVRREIAK
19:11537516-11537516 T>G	0.0	4242	GASTRIC	-	-	-	-	CCDC151	ENST00000586836,p.K43T|ENST00000545100,p.K180T|NM_145045,p.K234T|uc002mrs.3,p.K234T|ENST00000356392,p.K234T|uc002mrr.3,p.K169T	retained_intron, protein_coding, nonsense_mediated_decay	uc002mrs.3	nonsynonymous SNV	exon5	c.A701C	p.K234T	EAEHITSVYLQLKAYLMDESLNLEN	EAEHITSVYLQLTAYLMDESLNLEN	4.0	7.0	-	-	4242_19:11537516-11537516 T>G_EAEHITSVYLQLTAYLMDESLNLEN
11:107521107-107521107 G>C	0.0	4242	GASTRIC	-	-	-	-	ELMOD1	NM_001130037,p.D201H|ENST00000443271,p.D201H|uc001pjm.3,p.D201H	retained_intron, protein_coding, processed_transcript	uc001pjm.3	nonsynonymous SNV	exon8	c.G601C	p.D201H	ERDATAAQQVLSDSLHPKCSKFSKA	ERDATAAQQVLSHSLHPKCSKFSKA	1.0	8.0	-	-	4242_11:107521107-107521107 G>C_ERDATAAQQVLSHSLHPKCSKFSKA
6:97533056-97533056 C>G	0.0	4242	GASTRIC	-	-	-	-	KLHL32	NM_001286250,p.L120V|uc010kcm.1,p.L156V|ENST00000447886,p.L52V|ENST00000369261,p.L156V|uc011ead.1,p.L120V|NM_001286251,p.L87V|uc011eae.1,p.L87V|uc003poy.3,p.L156V|ENST00000536676,p.L120V|NM_052904,p.L156V|ENST00000539200,p.L87V|NM_001286252,p.L156V	protein_coding	uc011eae.1	nonsynonymous SNV	exon4	c.C259G	p.L87V	YLDLYRLADLFNLTLLEKAVIDFLV	YLDLYRLADLFNVTLLEKAVIDFLV	1.0	6.0	-	-	4242_6:97533056-97533056 C>G_YLDLYRLADLFNVTLLEKAVIDFLV
11:107521107-107521107 G>C	0.0	4242	GASTRIC	-	-	-	-	ELMOD1	uc010rvs.2,p.D201H|ENST00000531234,p.D195H|uc010rvt.2,p.D195H|NM_018712,p.D201H|ENST00000265840,p.D201H	retained_intron, protein_coding, processed_transcript	uc010rvt.2	nonsynonymous SNV	exon9	c.G583C	p.D195H	ERDATAAQQVLSDSLHPKCRDITKE	ERDATAAQQVLSHSLHPKCRDITKE	1.0	8.0	-	-	4242_11:107521107-107521107 G>C_ERDATAAQQVLSHSLHPKCRDITKE
19:15918499-15918499 C>G	0.0	4242	GASTRIC	-	-	-	-	OR10H1	uc002nbq.2,p.V117L|NM_013940,p.V117L|ENST00000334920,p.V117L	protein_coding	uc002nbq.2	nonsynonymous SNV	exon1	c.G349C	p.V117L	FSFGFTHSFLLTVMGYDRYVAICHP	FSFGFTHSFLLTLMGYDRYVAICHP	1.0	7.0	-	-	4242_19:15918499-15918499 C>G_FSFGFTHSFLLTLMGYDRYVAICHP
3:126261143-126261143 G>A	0.0	4242	GASTRIC	-	-	-	-	CHST13	ENST00000319340,p.A250T|uc003eja.3,p.A250T|NM_152889,p.A250T	protein_coding	uc003eja.3	nonsynonymous SNV	exon3	c.G748A	p.A250T	RREEPFNEHWERAHALCHPCRLRYD	RREEPFNEHWERTHALCHPCRLRYD	3.0	9.0	-	-	4242_3:126261143-126261143 G>A_RREEPFNEHWERTHALCHPCRLRYD
3:96962886-96962886 G>T	0.0	4242	GASTRIC	-	-	-	-	EPHA6	uc003drp.1,p.R454I|NM_001080448,p.R454I|ENST00000389672,p.R454I|ENST00000470610,p.R454I|uc010how.1,p.R454I	protein_coding, nonsense_mediated_decay	uc010how.1	nonsynonymous SNV	exon5	c.G1361T	p.R454I	ILEWSPPSDTGGRKDLTYSVICKKC	ILEWSPPSDTGGIKDLTYSVICKKC	1.0	9.0	-	-	4242_3:96962886-96962886 G>T_ILEWSPPSDTGGIKDLTYSVICKKC
7:106513383-106513383 G>C	0.0	4242	GASTRIC	-	-	-	-	PIK3CG	ENST00000440650,p.V763L|uc003vdv.4,p.V763L|NM_002649,p.V763L|ENST00000496166,p.V763L|ENST00000359195,p.V763L|NM_001282426,p.V763L|NM_001282427,p.V763L|ENST00000473541,p.V36L|uc003vdw.3,p.V763L|uc003vdu.3,p.V763L	protein_coding, processed_transcript	uc003vdw.3	nonsynonymous SNV	exon4	c.G2287C	p.V763L	SLSAEKYDVSSQVISQLKQKLENLQ	SLSAEKYDVSSQLISQLKQKLENLQ	1.0	1.0	-	-	4242_7:106513383-106513383 G>C_SLSAEKYDVSSQLISQLKQKLENLQ
8:105361304-105361304 T>C	0.0	4242	GASTRIC	-	-	-	-	DCSTAMP	uc031tcb.1,p.L175P|uc003ylx.2,p.L175P|ENST00000297581,p.L175P|ENST00000517991,p.L175P|NM_001257317,p.L175P|NM_030788,p.L175P	protein_coding, processed_transcript	uc031tcb.1	nonsynonymous SNV	exon2	c.T524C	p.L175P	DLVSWNQTLAVSLFSPSHVLEAQLN	DLVSWNQTLAVSPFSPSHVLEAQLN	1.0	1.0	-	-	4242_8:105361304-105361304 T>C_DLVSWNQTLAVSPFSPSHVLEAQLN
14:95562981-95562981 ->CTC	0.0	4242	GASTRIC	-	-	-	1	DICER1	uc001ydx.2,p.S1426delinsES|uc001ydy.1,p.S278delinsES|ENST00000556045,p.S324delinsES|ENST00000343455,p.S1426delinsES|NM_001195573,p.S1426delinsES|uc010avh.1,p.S324delinsES|uc001ydw.2,p.S1426delinsES|uc001ydv.3,p.S1426delinsES|NM_001291628,p.S1426delinsES|NM_177438,p.S1426delinsES|NM_001271282,p.S1426delinsES|ENST00000393063,p.S1426delinsES|ENST00000527414,p.S1426delinsES|NM_030621,p.S1426delinsES|ENST00000541352,p.S1426delinsES|ENST00000526495,p.S1426delinsES|uc021sbc.1,p.S1426delinsES	retained_intron, protein_coding, processed_transcript	uc021sbc.1	nonframeshift insertion	exon22	c.4275_4276insGAG	p.S1426delinsES	DEDYEEEDEEEESLMWRAPKEEADY	DEDYEEEDEEEEESLMWRAPKEEAD	6.0	3.0	-	-	4242_14:95562981-95562981 ->CTC_DEDYEEEDEEEEESLMWRAPKEEAD
18:19997665-19997665 G>T	0.0	4242	GASTRIC	-	-	-	-	CTAGE1	NM_172241,p.T37K|uc002ktv.1,p.T37K|ENST00000391403,p.T37K	protein_coding	uc002ktv.1	nonsynonymous SNV	exon1	c.C110A	p.T37K	AVLFLWRSFRSVTSRLYVRREKKFA	AVLFLWRSFRSVKSRLYVRREKKFA	1.0	8.0	-	-	4242_18:19997665-19997665 G>T_AVLFLWRSFRSVKSRLYVRREKKFA
12:120159185-120159185 ->T	0.0	4242	GASTRIC	-	-	-	-	CIT	ENST00000392521,p.E1221fs|ENST00000261833,p.E1179fs|NM_007174,p.E1179fs|uc001txh.2,p.E713fs|NM_001206999,p.E1221fs|uc001txj.2,p.E1221fs|uc001txi.2,p.E1179fs	retained_intron, protein_coding, processed_transcript	uc001txj.2	frameshift insertion	exon29	c.3660dupA	p.E1221fs	KNHIFRLTQGLQEALDRADLLKTER	KNHIFRLTQGLQRSSRSG	7.0	2.0	-	-	4242_12:120159185-120159185 ->T_KNHIFRLTQGLQRSSRSG
X:152807280-152807280 G>T	0.0	4242	GASTRIC	-	-	-	1	ATP2B3	ENST00000349466,p.S187I|ENST00000393842,p.S187I|NM_021949,p.S187I|uc004fht.1,p.S187I|NM_001001344,p.S187I|uc004fhs.1,p.S187I|ENST00000370186,p.S187I|ENST00000370181,p.S187I|ENST00000359149,p.S187I|ENST00000263519,p.S187I	protein_coding, processed_transcript	uc004fht.1	nonsynonymous SNV	exon3	c.G560T	p.S187I	DWSKEKQFRGLQSRIEQEQKFTVIR	DWSKEKQFRGLQIRIEQEQKFTVIR	1.0	10.0	-	-	4242_X:152807280-152807280 G>T_DWSKEKQFRGLQIRIEQEQKFTVIR
20:47990337-47990337 C>G	0.0	4242	GASTRIC	-	-	-	-	KCNB1	uc002xur.1,p.S587T|NM_004975,p.S587T|uc002xus.1,p.S587T|ENST00000371741,p.S587T	protein_coding	uc002xus.1	nonsynonymous SNV	exon3	c.G1760C	p.S587T	RTEGVIDMRSMSSIDSFISCATDFP	RTEGVIDMRSMSTIDSFISCATDFP	1.0	3.0	-	-	4242_20:47990337-47990337 C>G_RTEGVIDMRSMSTIDSFISCATDFP
12:119942878-119942878 A>G	0.0	4242	GASTRIC	-	-	-	-	CCDC60	ENST00000327554,p.K218R|uc001txe.3,p.K218R|NM_178499,p.K218R	protein_coding, processed_transcript	uc001txe.3	nonsynonymous SNV	exon7	c.A653G	p.K218R	QKWEHFITAPKTKKFKIPTMRVTNR	QKWEHFITAPKTRKFKIPTMRVTNR	1.0	3.0	-	-	4242_12:119942878-119942878 A>G_QKWEHFITAPKTRKFKIPTMRVTNR
11:62434399-62434399 A>G	0.0	4242	GASTRIC	-	-	-	-	METTL12	uc010rmc.2,p.E85G|uc001nug.1,p.E200G|NM_001043229,p.E200G|ENST00000532971,p.E200G	retained_intron, protein_coding, processed_transcript, ambiguous_orf	uc010rmc.2	nonsynonymous SNV	exon2	c.A254G	p.E85G	LNPQGTLIQFSDEDPDVRLPCLEQG	LNPQGTLIQFSDGDPDVRLPCLEQG	6.0	3.0	-	-	4242_11:62434399-62434399 A>G_LNPQGTLIQFSDGDPDVRLPCLEQG
17:43006258-43006258 C>A	0.0	4242	GASTRIC	-	-	-	-	KIF18B	uc031rbb.1,p.G563V|ENST00000593135,p.G551V|uc010wjh.3,p.G551V|uc002iht.4,p.G563V|ENST00000587309,p.G563V|ENST00000339151,p.G563V|ENST00000590129,p.G572V|NM_001265577,p.G551V|ENST00000438933,p.G563V|NM_001264573,p.G563V	retained_intron, protein_coding	uc031rbb.1	nonsynonymous SNV	exon12	c.G1688T	p.G563V	LQQLVQEEKIEPGAEALRTSGLARG	LQQLVQEEKIEPVAEALRTSGLARG	7.0	4.0	-	-	4242_17:43006258-43006258 C>A_LQQLVQEEKIEPVAEALRTSGLARG
3:62355847-62355847 C>T	0.0	4242	GASTRIC	-	-	-	-	FEZF2	uc003dli.2,p.D431N|ENST00000486811,p.D431N|ENST00000283268,p.D431N|uc003dlh.2,p.D431N|NM_018008,p.D431N|ENST00000475839,p.D431N	protein_coding	uc003dli.2	nonsynonymous SNV	exon5	c.G1291A	p.D431N	CATCGKGFCRNFDLKKHVRKLHDSV	CATCGKGFCRNFNLKKHVRKLHDSV	1.0	8.0	-	-	4242_3:62355847-62355847 C>T_CATCGKGFCRNFNLKKHVRKLHDSV
10:29169301-29169301 C>A	0.0	4242	GASTRIC	-	-	-	-	C10orf126	NM_001278522,p.P149T|ENST00000375520,p.P149T	protein_coding	NM_001278522	nonsynonymous SNV	exon5	c.C445A	p.P149T	GSVAGKEAKKAGPGFHRQLLYLQFQ	GSVAGKEAKKAGTGFHRQLLYLQFQ	1.0	5.0	-	-	4242_10:29169301-29169301 C>A_GSVAGKEAKKAGTGFHRQLLYLQFQ
22:21481208-21481208 G>A	0.0	4242	GASTRIC	-	rs199943339	-	-	BCRP2,FAM230B	ENST00000329949,p.R240C|uc021wmb.1,p.R240C|ENST00000419447,p.R240C|uc010gsw.2,p.R240C	protein_coding	uc021wmb.1	nonsynonymous SNV	exon1	c.C718T	p.R240C	EDLDREKEAAFQRINSALQVEDKAI	EDLDREKEAAFQCINSALQVEDKAI	1.0	2.0	unscreened	-	4242_22:21481208-21481208 G>A_EDLDREKEAAFQCINSALQVEDKAI
12:130648732-130648732 G>C	0.0	4242	GASTRIC	-	-	-	-	FZD10	ENST00000539839,p.G383R	protein_coding	ENST00000539839	nonsynonymous SNV	exon1	c.G1147C	p.G383R	LLPGHRHVLHPLGLRGPVPHPEGDE	LLPGHRHVLHPLRLRGPVPHPEGDE	1.0	3.0	-	-	4242_12:130648732-130648732 G>C_LLPGHRHVLHPLRLRGPVPHPEGDE
7:100635882-100635882 T>C	0.0	4242	GASTRIC	-	-	-	-	MUC12	NM_001164462,p.S680P|ENST00000536621,p.S680P|uc003uxo.3,p.S680P|ENST00000379442,p.S823P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.T2038C	p.S680P	IPTTHISARSTTSGLVEESTTYHSS	IPTTHISARSTTPGLVEESTTYHSS	1.0	2.0	unscreened	-	4242_7:100635882-100635882 T>C_IPTTHISARSTTPGLVEESTTYHSS
12:57398282-57398282 G>T	0.0	4242	GASTRIC	-	-	-	-	ZBTB39	uc001sml.2,p.S140R|NM_014830,p.S140R|ENST00000300101,p.S140R|uc021qzg.1,p.S140R	protein_coding	uc021qzg.1	nonsynonymous SNV	exon1	c.C420A	p.S140R	TARAKPLTSTSESHSGTLSCPSAEP	TARAKPLTSTSERHSGTLSCPSAEP	5.0	3.0	-	-	4242_12:57398282-57398282 G>T_TARAKPLTSTSERHSGTLSCPSAEP
10:84745256-84745256 C>G	0.0	4242	GASTRIC	-	-	-	-	NRG3	ENST00000372142,p.S465R|ENST00000372141,p.S662R|uc021pvl.1,p.S312R|uc001kco.2,p.S662R|uc021pvd.1,p.S441R|NM_001010848,p.S662R|uc021pvc.1,p.S686R|uc021pvf.1,p.S312R|uc010qlz.1,p.S661R|ENST00000556918,p.S492R|uc001kcq.2,p.S312R|uc001kcp.2,p.S465R|ENST00000404547,p.S686R|uc021pvi.1,p.S492R|NM_001165972,p.S661R|uc021pvh.1,p.S274R|uc001kcr.2,p.S336R|NM_001165973,p.S465R|ENST00000545131,p.S312R|uc021pvg.1,p.S490R|ENST00000404576,p.S466R|uc021pve.1,p.S466R|uc021pvk.1,p.S202R|ENST00000537893,p.S312R	protein_coding, nonsense_mediated_decay	uc021pvl.1	nonsynonymous SNV	exon7	c.C936G	p.S312R	YELASVETEDSASENTAFLPLSPTA	YELASVETEDSARENTAFLPLSPTA	3.0	2.0	-	-	4242_10:84745256-84745256 C>G_YELASVETEDSARENTAFLPLSPTA
18:3129266-3129266 T>-	0.0	4242	GASTRIC	-	-	-	-	MYOM1	uc002klp.3,p.S920fs|NM_003803,p.S920fs|ENST00000356443,p.S920fs|ENST00000400569,p.S920fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002klp.3	frameshift deletion	exon18	c.2758delA	p.S920fs	TPPPQKAAPQGKSKSDPLKKKTDRA	TPPPQKAAPQGKVSLTP	5.0	9.0	-	-	4242_18:3129266-3129266 T>-_TPPPQKAAPQGKVSLTP
15:78486361-78486361 A>C	0.0	4242	GASTRIC	-	-	-	-	ACSBG1	ENST00000559114,p.L45R|ENST00000559241,p.L160R|uc010umy.2,p.L45R|uc002bdh.3,p.L152R|ENST00000258873,p.L152R|NM_015162,p.L152R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010umy.2	nonsynonymous SNV	exon3	c.T134G	p.L45R	LLARRAAKGFLKLGLKQAHSVAILG	LLARRAAKGFLKRGLKQAHSVAILG	4.0	9.0	-	-	4242_15:78486361-78486361 A>C_LLARRAAKGFLKRGLKQAHSVAILG
2:133547609-133547609 T>C	0.0	4242	GASTRIC	-	-	-	-	NCKAP5	uc002ttq.3,p.N360S|ENST00000409213,p.N360S|NM_207481,p.N360S|ENST00000405974,p.N360S	protein_coding, processed_transcript	uc002ttq.3	nonsynonymous SNV	exon13	c.A1079G	p.N360S	SSGSSYTWHDGKNLRKRVKEANENL	SSGSSYTWHDGKSLRKRVKEANENL	2.0	7.0	-	-	4242_2:133547609-133547609 T>C_SSGSSYTWHDGKSLRKRVKEANENL
8:27888775-27888775 ->T	0.0	4242	GASTRIC	-	-	-	-	NUGGC	ENST00000413272,p.N631fs|ENST00000341513,p.N631fs|uc003xgm.4,p.N631fs|NM_001010906,p.N631fs	protein_coding	uc003xgm.4	frameshift insertion	exon15	c.1892dupA	p.N631fs	IRSGWKYDSCKKNFLIQEISAILGG	IRSGWKYDSCKKKFPDPGDKCHPRGPGGPHPQKEEEDLRVPHCLCPE	1.0	9.0	-	-	4242_8:27888775-27888775 ->T_IRSGWKYDSCKKKFPDPGDKCHPRGPGGPHPQKEEEDLRVPHCLCPE
9:33541216-33541216 G>C	0.0	4242	GASTRIC	-	-	-	-	ANKRD18B	NM_001244752,p.G294R|uc010mjw.2,p.G294R	retained_intron, protein_coding, processed_transcript	uc010mjw.2	nonsynonymous SNV	exon7	c.G880C	p.G294R	RKKRKKLKKRKEGAKEHNLKVASEE	RKKRKKLKKRKERAKEHNLKVASEE	9.0	9.0	-	-	4242_9:33541216-33541216 G>C_RKKRKKLKKRKERAKEHNLKVASEE
17:2603984-2603984 G>C	0.0	4242	GASTRIC	-	-	-	-	CLUH	ENST00000538975,p.H349Q|NM_015229,p.H349Q|ENST00000435359,p.H349Q|ENST00000575014,p.H281Q|uc002fuy.1,p.H349Q|uc002fux.1,p.H281Q|ENST00000570628,p.H349Q|ENST00000574426,p.H387Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002fuy.1	nonsynonymous SNV	exon8	c.C1047G	p.H349Q	EDAYTSRLGYEEHIPGQTRDWNEEL	EDAYTSRLGYEEQIPGQTRDWNEEL	9.0	1.0	-	-	4242_17:2603984-2603984 G>C_EDAYTSRLGYEEQIPGQTRDWNEEL
19:5772962-5772962 T>G	0.0	4242	GASTRIC	-	-	-	-	CATSPERD	ENST00000381624,p.F643V|NM_152784,p.F643V|uc002mda.3,p.F643V	protein_coding, processed_transcript	uc002mda.3	nonsynonymous SNV	exon20	c.T1927G	p.F643V	WTTMIKEFGGPFFWNRENYVSCHDP	WTTMIKEFGGPFVWNRENYVSCHDP	2.0	6.0	-	-	4242_19:5772962-5772962 T>G_WTTMIKEFGGPFVWNRENYVSCHDP
4:20469376-20469376 G>A	0.0	4242	GASTRIC	-	-	-	-	SLIT2	ENST00000504154,p.D133N|ENST00000273739,p.D133N|uc003gpr.1,p.D133N|uc003gps.1,p.D133N|NM_001289136,p.D133N|ENST00000503837,p.D133N|ENST00000508824,p.D94N|ENST00000503823,p.D133N|NM_004787,p.D133N|NM_001289135,p.D133N	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon5	c.G397A	p.D133N	LLFLGTAKLYRLDLSENQIQAIPRK	LLFLGTAKLYRLNLSENQIQAIPRK	2.0	2.0	-	-	4242_4:20469376-20469376 G>A_LLFLGTAKLYRLNLSENQIQAIPRK
X:70621580-70621580 T>C	0.0	4242	GASTRIC	-	-	-	-	TAF1	ENST00000276072,p.L1350P|ENST00000423759,p.L1350P|NM_001286074,p.L1350P|NM_138923,p.L1329P|NM_004606,p.L1350P|uc004dzu.4,p.L1329P|ENST00000373790,p.L1329P|ENST00000449580,p.L1329P|uc004dzv.4,p.L503P|uc004dzt.4,p.L1350P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004dzv.4	nonsynonymous SNV	exon10	c.T1508C	p.L503P	KVEGTKIVLGKQLIESADEVRRKSL	KVEGTKIVLGKQPIESADEVRRKSL	6.0	10.0	-	-	4242_X:70621580-70621580 T>C_KVEGTKIVLGKQPIESADEVRRKSL
12:53070942-53070942 ->CCAGCAGT	0.0	4242	GASTRIC	-	-	-	-	KRT1	uc001sau.1,p.G385fs|ENST00000252244,p.G385fs|NM_006121,p.G385fs|uc001sav.1,p.G385fs	retained_intron, protein_coding	uc001sav.1	frameshift insertion	exon6	c.1154_1155insACTGCTGG	p.G385fs	YQSKYEELQITAGRHGDSVRNSKIE	YQSKYEELQITAGLLADMGIV	1.0	4.0	-	-	4242_12:53070942-53070942 ->CCAGCAGT_YQSKYEELQITAGLLADMGIV
17:36339597-36339597 G>T	0.0	4242	GASTRIC	-	rs306818	-	-	LOC101060321,LOC101060389,LOC102723859,LOC102724862,TBC1D3,TBC1D3C,TBC1D3F,TBC1D3H,TBC1D3K,TBC1D3L	NM_001291463,p.Q354K|ENST00000518551,p.Q398K|uc010wdm.1,p.Q274K|uc002hpp.2,p.Q354K|uc002hox.2,p.Q332K|uc010cvk.2,p.Q354K|NM_001123392,p.Q354K|ENST00000354664,p.Q354K|NM_001291462,p.Q354K|NM_001291465,p.Q354K|ENST00000537432,p.Q354K|ENST00000519532,p.Q332K|uc002hpr.2,p.Q354K|uc010wdl.1,p.Q415K	retained_intron, protein_coding, nonsense_mediated_decay	uc010wdm.1	nonsynonymous SNV	exon14	c.C820A	p.Q274K	HLRASMKKLTRKQGDLPPPAKPEQG	HLRASMKKLTRKKGDLPPPAKPEQG	4.0	6.0	unscreened	-	4242_17:36339597-36339597 G>T_HLRASMKKLTRKKGDLPPPAKPEQG
7:144062411-144062411 A>C	0.0	4242	GASTRIC	-	-	-	-	ARHGEF5	ENST00000056217,p.Q883H|uc003wek.3,p.Q883H|NM_005435,p.Q883H|uc003wel.3,p.Q883H	protein_coding	uc003wel.3	nonsynonymous SNV	exon2	c.A2649C	p.Q883H	NSGGHAKTRPACQDWTVPLPASAGR	NSGGHAKTRPACHDWTVPLPASAGR	5.0	2.0	-	-	4242_7:144062411-144062411 A>C_NSGGHAKTRPACHDWTVPLPASAGR
17:36339597-36339597 G>T	0.0	4242	GASTRIC	-	rs306818	-	-	LOC101060321,LOC101060389,LOC102723859,LOC102724862,TBC1D3,TBC1D3C,TBC1D3F,TBC1D3H,TBC1D3K,TBC1D3L	NM_001291459,p.Q354K	retained_intron, protein_coding, nonsense_mediated_decay	NM_001291459	nonsynonymous SNV	exon13	c.C1060A	p.Q354K	HLRASMKKLTRKQGDLQPPAKPEQG	HLRASMKKLTRKKGDLQPPAKPEQG	4.0	6.0	unscreened	-	4242_17:36339597-36339597 G>T_HLRASMKKLTRKKGDLQPPAKPEQG
2:27803001-27803001 G>A	0.0	4242	GASTRIC	-	-	-	-	C2orf16	ENST00000408964,p.V1188I|NM_032266,p.V1188I|uc002rkz.4,p.V1188I	protein_coding	uc002rkz.4	nonsynonymous SNV	exon1	c.G3562A	p.V1188I	SQISKYRERDRPVIRRSPISPSQRK	SQISKYRERDRPIIRRSPISPSQRK	2.0	6.0	-	-	4242_2:27803001-27803001 G>A_SQISKYRERDRPIIRRSPISPSQRK
7:100643088-100643088 A>G	0.0	4242	GASTRIC	-	rs78430440	-	-	MUC12	uc003uxo.3,p.I3082V|ENST00000379442,p.I3225V|ENST00000536621,p.I3082V|NM_001164462,p.I3082V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.A9244G	p.I3082V	TSVLVGEPTTSPISSGSTETTALPG	TSVLVGEPTTSPVSSGSTETTALPG	1.0	1.0	unscreened	-	4242_7:100643088-100643088 A>G_TSVLVGEPTTSPVSSGSTETTALPG
12:11461514-11461514 G>A	0.0	4242	GASTRIC	-	-	-	-	PRB4	uc001qzt.4,p.P135S|uc001qzf.2,p.P135S|ENST00000279575,p.P135S|NM_002723,p.P135S|ENST00000535904,p.P135S	protein_coding	uc001qzt.4	nonsynonymous SNV	exon3	c.C403T	p.P135S	PPPQGGNQSHRPPPPPGKPERPPPQ	PPPQGGNQSHRPSPPPGKPERPPPQ	1.0	10.0	unscreened	-	4242_12:11461514-11461514 G>A_PPPQGGNQSHRPSPPPGKPERPPPQ
X:19478179-19478179 T>G	0.0	4242	GASTRIC	-	-	-	-	MAP3K15	NM_001001671,p.K271T|ENST00000338883,p.K271T|ENST00000469203,p.K103T|uc022btq.1,p.K271T	retained_intron, protein_coding, processed_transcript	uc022btq.1	nonsynonymous SNV	exon5	c.A812C	p.K271T	QGEELAKELARIKLRMDNTEVLTSD	QGEELAKELARITLRMDNTEVLTSD	1.0	9.0	-	-	4242_X:19478179-19478179 T>G_QGEELAKELARITLRMDNTEVLTSD
1:51323644-51323644 T>G	0.0	4242	GASTRIC	-	-	-	-	FAF1	ENST00000396153,p.D24A|ENST00000371778,p.D24A|uc001cse.1,p.D24A|NM_007051,p.D24A	protein_coding, processed_transcript, nonsense_mediated_decay	uc001cse.1	nonsynonymous SNV	exon2	c.A71C	p.D24A	ADFQACTGIENIDEAITLLEQNNWD	ADFQACTGIENIAEAITLLEQNNWD	9.0	3.0	-	-	4242_1:51323644-51323644 T>G_ADFQACTGIENIAEAITLLEQNNWD
2:133547609-133547609 T>C	0.0	4242	GASTRIC	-	-	-	-	NCKAP5	ENST00000409261,p.N360S|uc002ttp.3,p.N360S|NM_207363,p.N360S|ENST00000317721,p.N360S	protein_coding, processed_transcript	uc002ttp.3	nonsynonymous SNV	exon13	c.A1079G	p.N360S	SSGSSYTWHDGKNLRKRQSSQNWDK	SSGSSYTWHDGKSLRKRQSSQNWDK	2.0	7.0	-	-	4242_2:133547609-133547609 T>C_SSGSSYTWHDGKSLRKRQSSQNWDK
20:2597747-2597747 T>C	0.0	4242	GASTRIC	-	-	-	-	TMC2	ENST00000358864,p.V657A|NM_080751,p.V657A|uc002wgf.1,p.V657A|uc002wgg.1,p.V641A	protein_coding, processed_transcript	uc002wgg.1	nonsynonymous SNV	exon15	c.T1922C	p.V641A	MIWMGSFYAPGLVGINVLRLLTSMY	MIWMGSFYAPGLAGINVLRLLTSMY	1.0	3.0	-	-	4242_20:2597747-2597747 T>C_MIWMGSFYAPGLAGINVLRLLTSMY
2:210681762-210681762 C>T	0.0	4242	GASTRIC	-	-	ID=COSM1404991;OCCURENCE=1(large_intestine)	-	UNC80	ENST00000272845,p.R489C|uc021vvx.1,p.R489C|ENST00000439458,p.R489C|NM_182587,p.R489C|uc010zjc.1,p.R489C|NM_032504,p.R489C	retained_intron, protein_coding, processed_transcript	uc021vvx.1	nonsynonymous SNV	exon10	c.C1465T	p.R489C	LLHEDHLDVSPTRSTFSFGSFSGLG	LLHEDHLDVSPTCSTFSFGSFSGLG	1.0	3.0	-	-	4242_2:210681762-210681762 C>T_LLHEDHLDVSPTCSTFSFGSFSGLG
2:45235949-45235949 G>C	0.0	4242	GASTRIC	-	-	-	-	SIX2	NM_016932,p.R101G|uc002ruo.3,p.R101G|ENST00000303077,p.R101G	protein_coding	uc002ruo.3	nonsynonymous SNV	exon1	c.C301G	p.R101G	KAHYIEAEKLRGRPLGAVGKYRVRR	KAHYIEAEKLRGGPLGAVGKYRVRR	5.0	8.0	-	-	4242_2:45235949-45235949 G>C_KAHYIEAEKLRGGPLGAVGKYRVRR
1:147380410-147380410 G>C	0.0	4242	GASTRIC	-	-	-	-	GJA8	NM_005267,p.E110Q|ENST00000240986,p.E110Q|ENST00000369235,p.E110Q|uc001epu.2,p.E110Q|uc021ovm.1,p.E110Q	protein_coding	uc021ovm.1	nonsynonymous SNV	exon1	c.G328C	p.E110Q	HYVRMEEKRKSREAEELGQQAGTNG	HYVRMEEKRKSRQAEELGQQAGTNG	1.0	1.0	-	-	4242_1:147380410-147380410 G>C_HYVRMEEKRKSRQAEELGQQAGTNG
12:75816799-75816799 A>T	0.0	4242	GASTRIC	-	-	-	-	GLIPR1L2	NM_152436,p.M234L|uc001sxp.2,p.M234L|ENST00000320460,p.M234L	protein_coding	uc001sxp.2	nonsynonymous SNV	exon4	c.A700T	p.M234L	LCSKIKKINMKKMHNGLDKKNKRLN	LCSKIKKINMKKLHNGLDKKNKRLN	1.0	4.0	-	-	4242_12:75816799-75816799 A>T_LCSKIKKINMKKLHNGLDKKNKRLN
14:65235773-65235773 G>A	0.0	4242	GASTRIC	-	-	-	-	SPTB	uc010aqi.3,p.R662C|uc001xhs.3,p.R2001C|ENST00000389721,p.R2001C|NM_000347,p.R2001C|ENST00000389722,p.R2001C|ENST00000542895,p.R2001C|NM_001024858,p.R2001C|uc001xhr.3,p.R2001C|uc001xhu.3,p.R2001C|ENST00000553938,p.R666C|ENST00000556626,p.R2001C|uc001xht.3,p.R2001C|ENST00000389720,p.R2001C	retained_intron, protein_coding, processed_transcript	uc010aqi.3	nonsynonymous SNV	exon10	c.C1984T	p.R662C	SRRKEMNEKWEARWERLRMLLEVCQ	SRRKEMNEKWEACWERLRMLLEVCQ	2.0	9.0	-	-	4242_14:65235773-65235773 G>A_SRRKEMNEKWEACWERLRMLLEVCQ
20:33345510-33345512 AGC>-	0.0	4242	GASTRIC	-	-	-	-	NCOA6	uc021wcf.1,p.347_347del|ENST00000359003,p.347_347del|uc002xav.3,p.347_347del|uc021wce.1,p.347_347del|uc021wcd.1,p.347_347del|NM_001242539,p.347_347del|uc002xaw.3,p.347_347del|NM_014071,p.347_347del|uc010gew.1,p.304_304del|ENST00000374796,p.347_347del	retained_intron, protein_coding, processed_transcript	uc021wcf.1	nonframeshift deletion	exon5	c.1039_1041del	p.347_347del	LGTMTANQGWKKAPLPGPMQQQLQA	LGTMTANQGWKKPLPGPMQQQLQAR	10.0	5.0	-	-	4242_20:33345510-33345512 AGC>-_LGTMTANQGWKKPLPGPMQQQLQAR
19:12059750-12059750 A>C	0.0	4242	GASTRIC	-	-	-	-	ZNF700	NM_144566,p.K304T|uc031rjk.1,p.K307T|uc002msu.4,p.K304T|uc010xme.3,p.K322T|NM_001271848,p.K307T|ENST00000254321,p.K304T|ENST00000482090,p.K286T	protein_coding	uc031rjk.1	nonsynonymous SNV	exon4	c.A920C	p.K307T	SYHRHERSHMGEKPYQCKECGKAFA	SYHRHERSHMGETPYQCKECGKAFA	4.0	7.0	-	-	4242_19:12059750-12059750 A>C_SYHRHERSHMGETPYQCKECGKAFA
19:19431704-19431704 ->GCA	0.0	4242	GASTRIC	-	-	-	-	MAU2	ENST00000392313,p.A12delinsAA|uc002nmk.4,p.A12delinsAA|ENST00000262815,p.A12delinsAA|NM_015329,p.A12delinsAA	retained_intron, protein_coding, processed_transcript	uc002nmk.4	nonframeshift insertion	exon1	c.36_37insGCA	p.A12delinsAA	MAAQAAAAAQAAAAQAAQAEAADS	MAAQAAAAAQAAAAAQAAQAEAAD	6.0	5.0	unscreened	-	4242_19:19431704-19431704 ->GCA_MAAQAAAAAQAAAAAQAAQAEAAD
2:28004489-28004490 AG>-	0.0	4242	GASTRIC	-	-	-	-	RBKS	NM_001287580,p.L254fs|uc002rlo.1,p.L321fs|ENST00000302188,p.L321fs|NM_022128,p.L321fs	protein_coding, nonsense_mediated_decay	uc002rlo.1	frameshift deletion	exon8	c.961_962del	p.L321fs	SSYPYKKDLPLTLF	SSYPYKKDLPLTVL	5.0	6.0	-	-	4242_2:28004489-28004490 AG>-_SSYPYKKDLPLTVL
5:172513583-172513583 C>T	0.0	4242	GASTRIC	-	-	-	-	CREBRF	ENST00000520420,p.T30I|ENST00000522692,p.T30I|NM_153607,p.T30I|NM_001168393,p.T30I|ENST00000540014,p.T30I|ENST00000296953,p.T30I|uc003mcg.3,p.T30I|uc011dfd.1,p.T30I|NM_001168394,p.T30I|uc003mcf.3,p.T30I|uc003mch.3,p.T30I	retained_intron, protein_coding, processed_transcript	uc011dfd.1	nonsynonymous SNV	exon3	c.C89T	p.T30I	RSHTFSEQTLMSTDLLANSSDPDFM	RSHTFSEQTLMSIDLLANSSDPDFM	5.0	6.0	-	-	4242_5:172513583-172513583 C>T_RSHTFSEQTLMSIDLLANSSDPDFM
1:57409385-57409385 A>C	0.0	4242	GASTRIC	-	-	-	-	C8B	NM_001278544,p.I344M|uc010oon.2,p.I344M|uc001cyp.3,p.I406M|ENST00000535057,p.I344M|NM_001278543,p.I354M|uc010ooo.2,p.I354M|ENST00000543257,p.I354M|ENST00000371237,p.I406M|NM_000066,p.I406M	retained_intron, protein_coding, processed_transcript	uc010ooo.2	nonsynonymous SNV	exon9	c.T1062G	p.I354M	VSLGVSVGKCRGILNEIKDRNKRDT	VSLGVSVGKCRGMLNEIKDRNKRDT	1.0	7.0	-	-	4242_1:57409385-57409385 A>C_VSLGVSVGKCRGMLNEIKDRNKRDT
17:42433123-42433123 G>T	0.0	4242	GASTRIC	-	-	-	-	FAM171A2	uc002igs.2,p.L328M|ENST00000293443,p.L328M|NM_198475,p.L328M	retained_intron, protein_coding, nonsense_mediated_decay	uc002igs.2	nonsynonymous SNV	exon7	c.C982A	p.L328M	IFLLTILAALALLVLILLCLLIYYC	IFLLTILAALALMVLILLCLLIYYC	3.0	4.0	-	-	4242_17:42433123-42433123 G>T_IFLLTILAALALMVLILLCLLIYYC
20:31608143-31608143 T>G	0.0	4242	GASTRIC	-	-	-	-	BPIFB2	uc002wyj.4,p.L364V|NM_025227,p.L364V|ENST00000170150,p.L364V	protein_coding	uc002wyj.4	nonsynonymous SNV	exon12	c.T1090G	p.L364V	FQSLFSLDVVVNLRLQLSVSKVKLQ	FQSLFSLDVVVNVRLQLSVSKVKLQ	1.0	4.0	-	-	4242_20:31608143-31608143 T>G_FQSLFSLDVVVNVRLQLSVSKVKLQ
1:151509315-151509315 A>C	1.0	4242	GASTRIC	-	-	-	-	CGN	uc009wmw.3,p.H1139P|ENST00000271636,p.H1139P|NM_020770,p.H1139P	retained_intron, protein_coding	uc009wmw.3	nonsynonymous SNV	exon20	c.A3416C	p.H1139P	LRKKAQREVEEQHEVNEQLQARIKS	LRKKAQREVEEQPEVNEQLQARIKS	10.0	4.0	-	-	4242_1:151509315-151509315 A>C_LRKKAQREVEEQPEVNEQLQARIKS
1:225428327-225428327 C>G	0.0	4242	GASTRIC	-	-	-	-	DNAH14	ENST00000445597,p.P1757R|ENST00000430092,p.P2162R|NM_001373,p.P2162R|ENST00000439375,p.P2162R|uc001how.2,p.P2162R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon42	c.C6485G	p.P2162R	KRDENTWYPEKNPDKLTKIIQKLFV	KRDENTWYPEKNRDKLTKIIQKLFV	1.0	6.0	-	-	4242_1:225428327-225428327 C>G_KRDENTWYPEKNRDKLTKIIQKLFV
13:113803258-113803258 C>T	0.0	4242	GASTRIC	-	-	-	-	F10	ENST00000409306,p.A297V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000409306	nonsynonymous SNV	exon8	c.C890T	p.A297V	KVRGTGTRSRRRAVRRCTRWRWSSS	KVRGTGTRSRRRVVRRCTRWRWSSS	1.0	6.0	-	-	4242_13:113803258-113803258 C>T_KVRGTGTRSRRRVVRRCTRWRWSSS
13:113803258-113803258 C>T	0.0	4242	GASTRIC	-	-	-	-	F10	uc001vsy.3,p.A295V|ENST00000375551,p.A295V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vsy.3	nonsynonymous SNV	exon8	c.C884T	p.A295V	RFKGTGTRSRRRAVRRCTRWRWSSS	RFKGTGTRSRRRVVRRCTRWRWSSS	1.0	6.0	-	-	4242_13:113803258-113803258 C>T_RFKGTGTRSRRRVVRRCTRWRWSSS
2:1652170-1652170 T>-	0.0	4242	GASTRIC	-	-	-	-	PXDN	uc002qxa.3,p.M1128fs|ENST00000252804,p.M1128fs|NM_012293,p.M1128fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qxa.3	frameshift deletion	exon17	c.3382delA	p.M1128fs	PLLRGLFGVAGKMRVPSQLLNTELT	PLLRGLFGVAGKCVCPRSC	5.0	8.0	-	-	4242_2:1652170-1652170 T>-_PLLRGLFGVAGKCVCPRSC
5:80513250-80513250 C>A	0.0	4242	GASTRIC	-	-	-	-	RASGRF2	ENST00000265080,p.N1170K|uc003kha.2,p.N1170K|NM_006909,p.N1170K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kha.2	nonsynonymous SNV	exon25	c.C3510A	p.N1170K	LTDLAFIEEGTPNFTEEGLVNFSKM	LTDLAFIEEGTPKFTEEGLVNFSKM	2.0	7.0	-	-	4242_5:80513250-80513250 C>A_LTDLAFIEEGTPKFTEEGLVNFSKM
10:72534050-72534050 A>T	0.0	4242	GASTRIC	-	-	-	-	TBATA	ENST00000299290,p.V279D|uc010qjm.1,p.V280D|NM_152710,p.V279D|uc010qjn.1,p.V278D|uc001jrj.1,p.V279D	protein_coding	uc010qjn.1	nonsynonymous SNV	exon9	c.T833A	p.V278D	QTAVAQLLPQPLVSIPTEKLLSQLP	QTAVAQLLPQPLDSIPTEKLLSQLP	1.0	2.0	-	-	4242_10:72534050-72534050 A>T_QTAVAQLLPQPLDSIPTEKLLSQLP
9:109690062-109690062 C>A	0.0	4242	GASTRIC	-	-	-	-	ZNF462	uc004bda.3,p.A1138D|ENST00000457913,p.A1290D|NM_021224,p.A1290D|ENST00000374686,p.A173D|uc010mto.3,p.A1138D|ENST00000441147,p.A135D|ENST00000277225,p.A1290D|uc004bcz.3,p.A1290D	protein_coding, processed_transcript	uc010mto.3	nonsynonymous SNV	exon1	c.C3413A	p.A1138D	YALRKHIKKDHPALKATVTSIMRWA	YALRKHIKKDHPDLKATVTSIMRWA	4.0	2.0	-	-	4242_9:109690062-109690062 C>A_YALRKHIKKDHPDLKATVTSIMRWA
10:48413931-48413931 T>G	0.0	4242	GASTRIC	-	-	-	-	GDF2	ENST00000249598,p.T313P|NM_016204,p.T313P|uc001jfa.1,p.T313P	protein_coding	uc001jfa.1	nonsynonymous SNV	exon2	c.A937C	p.T313P	EEDTDGHVAAGSTLARRKRSAGAGS	EEDTDGHVAAGSPLARRKRSAGAGS	1.0	5.0	-	-	4242_10:48413931-48413931 T>G_EEDTDGHVAAGSPLARRKRSAGAGS
21:41459152-41459152 A>C	0.0	4242	GASTRIC	-	-	-	-	DSCAM	uc031rvr.1,p.L1305V|ENST00000400454,p.L1305V|NM_001389,p.L1305V|NM_001271534,p.L1305V|ENST00000404019,p.L1057V|uc002yyq.1,p.L1305V	protein_coding	uc031rvr.1	nonsynonymous SNV	exon22	c.T3913G	p.L1305V	GTVTTPWMKDIVLPCKAVGDPSPAV	GTVTTPWMKDIVVPCKAVGDPSPAV	1.0	8.0	-	-	4242_21:41459152-41459152 A>C_GTVTTPWMKDIVVPCKAVGDPSPAV
19:49573689-49573689 T>G	0.0	4242	GASTRIC	-	-	-	-	KCNA7	ENST00000221444,p.E334D|uc002pmg.3,p.E334D|NM_031886,p.E334D	protein_coding	uc002pmg.3	nonsynonymous SNV	exon2	c.A1002C	p.E334D	GVVLFSSAVYFAEVDRVDSHFTSIP	GVVLFSSAVYFADVDRVDSHFTSIP	1.0	7.0	-	-	4242_19:49573689-49573689 T>G_GVVLFSSAVYFADVDRVDSHFTSIP
2:7005256-7005256 T>C	0.0	4242	GASTRIC	-	-	ID=COSM1201483;OCCURENCE=1(large_intestine)	-	CMPK2	uc010yis.2,p.Q191R|uc002qyo.4,p.Q191R|NM_001256478,p.Q191R|NM_207315,p.Q191R|ENST00000458098,p.Q191R|ENST00000404168,p.Q191R|uc010ewv.4,p.Q191R|NM_001256477,p.Q191R|ENST00000256722,p.Q191R	protein_coding, processed_transcript	uc010yis.2	nonsynonymous SNV	exon1	c.A572G	p.Q191R	VQDGRRLQVGCAQVVPVPEPPLHPV	VQDGRRLQVGCARVVPVPEPPLHPV	4.0	7.0	unscreened	-	4242_2:7005256-7005256 T>C_VQDGRRLQVGCARVVPVPEPPLHPV
1:152186141-152186141 C>T	0.0	4242	GASTRIC	-	rs41266128	-	-	HRNR	ENST00000368801,p.R2655H|NM_001009931,p.R2655H|uc001ezt.2,p.R2655H	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G7964A	p.R2655H	GRQGSGSGQSPSRGRHGSGLGHSSS	GRQGSGSGQSPSHGRHGSGLGHSSS	1.0	2.0	unscreened	-	4242_1:152186141-152186141 C>T_GRQGSGSGQSPSHGRHGSGLGHSSS
11:4824901-4824901 C>T	0.0	4242	GASTRIC	-	-	ID=COSM927573,COSM927574;OCCURENCE=1(endometrium)	-	OR52R1	ENST00000356069,p.R237H|uc021qcs.1,p.R237H|NM_001005177,p.R237H|ENST00000380382,p.R316H	protein_coding	uc021qcs.1	nonsynonymous SNV	exon1	c.G710A	p.R237H	LRAVLQLPSGEARLKAFSTRSSHIC	LRAVLQLPSGEAHLKAFSTRSSHIC	1.0	5.0	unscreened	-	4242_11:4824901-4824901 C>T_LRAVLQLPSGEAHLKAFSTRSSHIC
2:73678144-73678144 A>T	0.0	4242	GASTRIC	-	-	-	-	ALMS1	ENST00000264448,p.E1496V|uc002sjf.1,p.E1454V|uc002sjh.1,p.E884V|ENST00000409009,p.E1454V|uc002sjg.3,p.E884V|ENST00000377715,p.E1496V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sjh.1	nonsynonymous SNV	exon1	c.A2651T	p.E884V	IYKQAFPEGHLPEESLKVSVAPGPV	IYKQAFPEGHLPVESLKVSVAPGPV	6.0	6.0	-	-	4242_2:73678144-73678144 A>T_IYKQAFPEGHLPVESLKVSVAPGPV
2:7005200-7005200 A>G	0.0	4242	GASTRIC	-	-	-	-	CMPK2	uc010yis.2,p.S210P|ENST00000458098,p.S210P|NM_001256477,p.S210P|ENST00000256722,p.S210P|uc002qyo.4,p.S210P|NM_207315,p.S210P|ENST00000404168,p.S210P|uc010ewv.4,p.S210P|NM_001256478,p.S210P	protein_coding, processed_transcript	uc010yis.2	nonsynonymous SNV	exon1	c.T628C	p.S210P	PPLHPVVPDLPSSVVFPDREAARAV	PPLHPVVPDLPSPVVFPDREAARAV	4.0	7.0	unscreened	-	4242_2:7005200-7005200 A>G_PPLHPVVPDLPSPVVFPDREAARAV
11:123810330-123810330 C>A	0.0	4242	GASTRIC	-	-	-	-	OR4D5	ENST00000307033,p.P3T|NM_001001965,p.P3T|uc001pzk.1,p.P3T	protein_coding	uc001pzk.1	nonsynonymous SNV	exon1	c.C7A	p.P3T	MNPANHSQVAGFVLL	MNTANHSQVAGFVLL	1.0	7.0	-	-	4242_11:123810330-123810330 C>A_MNTANHSQVAGFVLL
10:61833379-61833379 T>G	0.0	4242	GASTRIC	-	-	-	-	ANK3	uc001jky.3,p.E2420D|NM_020987,p.E2420D|ENST00000280772,p.E2420D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.A7260C	p.E2420D	ESSRVNTPVSQEEDSRPSSAQLISD	ESSRVNTPVSQEDDSRPSSAQLISD	7.0	2.0	-	-	4242_10:61833379-61833379 T>G_ESSRVNTPVSQEDDSRPSSAQLISD
2:192700915-192700915 A>C	0.0	4242	GASTRIC	-	-	-	-	SDPR	ENST00000304141,p.S338A|uc002utb.3,p.S338A|NM_004657,p.S338A	protein_coding	uc002utb.3	nonsynonymous SNV	exon2	c.T1012G	p.S338A	NDQEEESFAEGHSEASLASALVEGE	NDQEEESFAEGHAEASLASALVEGE	3.0	6.0	-	-	4242_2:192700915-192700915 A>C_NDQEEESFAEGHAEASLASALVEGE
2:179463887-179463887 G>A	0.0	4242	GASTRIC	-	-	-	-	TTN	NM_001267550,p.A18878V|uc031rqc.1,p.A18878V|ENST00000589042,p.A18878V|ENST00000460472,p.A9813V|NM_133437,p.A10005V|NM_133432,p.A9938V|ENST00000359218,p.A9938V|NM_133378,p.A16310V|uc021vtb.2,p.A9813V|uc021vsz.2,p.A10005V|uc021vsy.2,p.A16310V|NM_001256850,p.A17237V|ENST00000591111,p.A17237V|ENST00000342992,p.A16310V|uc031rqd.1,p.A17237V|ENST00000342175,p.A10005V|NM_003319,p.A9813V|uc021vta.2,p.A9938V	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon240	c.C51710T	p.A17237V	GIGEPLDSEPETARNLFSVPGAPDK	GIGEPLDSEPETVRNLFSVPGAPDK	1.0	6.0	-	-	4242_2:179463887-179463887 G>A_GIGEPLDSEPETVRNLFSVPGAPDK
6:35477056-35477056 T>C	0.0	4242	GASTRIC	-	-	-	-	TULP1	NM_001289395,p.E198G|NM_003322,p.E251G|uc003okw.4,p.E198G|uc021yyx.1,p.E251G|ENST00000229771,p.E251G|uc021yyy.1,p.E251G|ENST00000322263,p.E198G|uc003okv.4,p.E251G	retained_intron, protein_coding	uc021yyy.1	nonsynonymous SNV	exon8	c.A752G	p.E251G	KGTPKGARKEEEEEEEAATVIKKSN	KGTPKGARKEEEGEEEAATVIKKSN	1.0	3.0	-	-	4242_6:35477056-35477056 T>C_KGTPKGARKEEEGEEEAATVIKKSN
9:139405605-139405605 T>G	0.0	4242	GASTRIC	-	-	-	1	NOTCH1	ENST00000277541,p.Q862H|uc004cia.1,p.Q92H|NM_017617,p.Q862H|uc004chz.3,p.Q862H	protein_coding, processed_transcript	uc004cia.1	nonsynonymous SNV	exon3	c.A276C	p.Q92H	YESFSCVCPTGWQGQTCEVDINECV	YESFSCVCPTGWHGQTCEVDINECV	6.0	4.0	-	-	4242_9:139405605-139405605 T>G_YESFSCVCPTGWHGQTCEVDINECV
5:157053581-157053581 T>G	0.0	4242	GASTRIC	-	-	-	-	SOX30	NM_178424,p.S677R|ENST00000265007,p.S677R|uc011dds.1,p.S372R|ENST00000519442,p.S372R|uc003lxb.1,p.S677R	protein_coding	uc011dds.1	nonsynonymous SNV	exon6	c.A1114C	p.S372R	TLNRDYSFRDYSSECTHSENSRSCE	TLNRDYSFRDYSRECTHSENSRSCE	1.0	5.0	-	-	4242_5:157053581-157053581 T>G_TLNRDYSFRDYSRECTHSENSRSCE
11:5718540-5718540 A>C	0.0	4242	GASTRIC	-	-	-	-	TRIM22	ENST00000379965,p.E162D|NM_006074,p.E162D|ENST00000425490,p.E162D|ENST00000414641,p.E162D|uc001mbr.3,p.E162D	retained_intron, protein_coding, nonsense_mediated_decay	uc001mbr.3	nonsynonymous SNV	exon3	c.A486C	p.E162D	RLIKEDQEAEKLEDDIRQERTAWKN	RLIKEDQEAEKLDDDIRQERTAWKN	5.0	5.0	unscreened	-	4242_11:5718540-5718540 A>C_RLIKEDQEAEKLDDDIRQERTAWKN
11:5718540-5718540 A>C	0.0	4242	GASTRIC	-	-	-	-	TRIM22	uc009yes.3,p.E162D|NM_001199573,p.E162D	retained_intron, protein_coding, nonsense_mediated_decay	uc009yes.3	nonsynonymous SNV	exon3	c.A486C	p.E162D	RLIKEDQEAEKLEDDIRQERTAWKI	RLIKEDQEAEKLDDDIRQERTAWKI	5.0	5.0	unscreened	-	4242_11:5718540-5718540 A>C_RLIKEDQEAEKLDDDIRQERTAWKI
4:74124066-74124089 CCACCTCCGCCTCCACCGCCGCCT>-	0.0	4242	GASTRIC	-	-	-	-	ANKRD17	uc003hgr.3,p.99_107del|ENST00000330838,p.99_107del|uc003hgq.3,p.99_107del|uc003hgp.3,p.99_107del|ENST00000358602,p.99_107del|NM_032217,p.99_107del|NM_198889,p.99_107del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hgr.3	nonframeshift deletion	exon1	c.297_320del	p.99_107del	ESSSDSDNSGGGGGGGGGGGGGGGT	ESSSDSDNSGGGGGGGTSSNNSEEE	9.0	5.0	unscreened	-	4242_4:74124066-74124089 CCACCTCCGCCTCCACCGCCGCCT>-_ESSSDSDNSGGGGGGGTSSNNSEEE
1:227838694-227838694 T>G	0.0	4242	GASTRIC	-	-	-	-	ZNF678	uc001hqw.2,p.M1R|ENST00000343776,p.M1R	protein_coding, processed_transcript	uc001hqw.2	nonsynonymous SNV	exon3	c.T2G	p.M1R	MGTISLCIGVCAF	RGTISLCIGVCAF	5.0	4.0	unscreened	-	4242_1:227838694-227838694 T>G_RGTISLCIGVCAF
2:175976304-175976304 C>A	1.0	4242	GASTRIC	-	-	-	-	ATF2	ENST00000487334,p.K217N|ENST00000421438,p.K235N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000487334	nonsynonymous SNV	exon10	c.G651T	p.K217N	SQVLPLPNQYSQKQK	SQVLPLPNQYSQNQK	7.0	7.0	unscreened	-	4242_2:175976304-175976304 C>A_SQVLPLPNQYSQNQK
11:71249331-71249331 A>C	0.0	4242	GASTRIC	-	-	-	-	KRTAP5-8	ENST00000398534,p.K77T|NM_021046,p.K77T|uc001oqr.1,p.K77T	protein_coding	uc001oqr.1	nonsynonymous SNV	exon1	c.A230C	p.K77T	GSKGDCGSCGGSKGGCGSCGCSQCS	GSKGDCGSCGGSTGGCGSCGCSQCS	1.0	6.0	-	-	4242_11:71249331-71249331 A>C_GSKGDCGSCGGSTGGCGSCGCSQCS
X:106066649-106066649 ->T	0.0	4242	GASTRIC	-	-	-	-	TBC1D8B	uc004emn.3,p.T260fs|NM_198881,p.T260fs|ENST00000276175,p.T260fs|uc004emm.3,p.T260fs|uc004emo.3,p.T260fs|ENST00000481617,p.T260fs|ENST00000357242,p.T260fs|NM_017752,p.T260fs|ENST00000310452,p.T260fs	retained_intron, protein_coding	uc004emo.3	frameshift insertion	exon5	c.781dupT	p.T260fs	ANYAIRRLFDKETFDNDPVLYNPLQ	ANYAIRRLFDKETF	6.0	10.0	-	-	4242_X:106066649-106066649 ->T_ANYAIRRLFDKETF
7:13935676-13935677 CA>-	0.0	4242	GASTRIC	-	-	-	1	ETV1	ENST00000430479,p.C416fs|uc022aaa.1,p.C398fs|ENST00000405192,p.C393fs|ENST00000343495,p.C398fs|NM_001163151,p.C358fs|ENST00000399357,p.C313fs|uc021zzz.1,p.C416fs|ENST00000405218,p.C416fs|ENST00000405358,p.C430fs|NM_001163149,p.C398fs|ENST00000242066,p.C398fs|uc003ssw.4,p.C393fs|uc021zzt.1,p.C376fs|uc021zzu.1,p.C313fs|NM_001163150,p.C376fs|ENST00000403527,p.C376fs|NM_001163148,p.C398fs|NM_001163152,p.C313fs|ENST00000420159,p.C358fs|NM_001163147,p.C393fs|NM_004956,p.C416fs|ENST00000403685,p.C398fs|uc021zzv.1,p.C358fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022aaa.1	frameshift deletion	exon11	c.1194_1195del	p.C398fs	KVAGERYVYKFVCDPEALFSMAFPD	KVAGERYVYKFV	4.0	6.0	unscreened	-	4242_7:13935676-13935677 CA>-_KVAGERYVYKFV
6:52144379-52144379 G>A	1.0	4253	MELANOMA	-	-	-	-	MCM3	ENST00000229854,p.L184F|ENST00000596288,p.L229F|uc003pan.2,p.L229F|NM_001270472,p.L194F|NM_002388,p.L229F|ENST00000419835,p.L138F|uc011dwu.2,p.L194F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dwu.2	nonsynonymous SNV	exon4	c.C580T	p.L194F	SVYPTKDEENNPLETEYGLSVYKDH	SVYPTKDEENNPFETEYGLSVYKDH	10.0	3.0	-	-	4253_6:52144379-52144379 G>A_SVYPTKDEENNPFETEYGLSVYKDH
19:9801625-9801625 C>T	1.0	4253	MELANOMA	-	-	-	-	ZNF812	ENST00000457674,p.G185E|uc010xkx.2,p.G81E|NM_001199814,p.G185E|uc021uop.1,p.G185E	protein_coding, processed_transcript	uc021uop.1	nonsynonymous SNV	exon6	c.G554A	p.G185E	GFKYFASLDNHMGIHIGEKFCEFQE	GFKYFASLDNHMEIHIGEKFCEFQE	8.0	2.0	-	-	4253_19:9801625-9801625 C>T_GFKYFASLDNHMEIHIGEKFCEFQE
1:39816665-39816665 C>T	1.0	4253	MELANOMA	-	-	-	-	MACF1	ENST00000317713,p.S1663F|NM_012090,p.S1663F|ENST00000539005,p.S1663F|uc001cdc.2,p.S1663F|uc001cdb.1,p.S750F|ENST00000361689,p.S1663F|uc031pmc.1,p.S1663F|uc021olt.1,p.S1663F|ENST00000289893,p.S2165F|uc031pmd.1,p.S2165F|ENST00000567887,p.S3762F|ENST00000564288,p.S3725F|uc001cda.1,p.S1571F|ENST00000530262,p.S1812F|ENST00000545844,p.S1663F|ENST00000372915,p.S3730F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pmd.1	nonsynonymous SNV	exon7	c.C6494T	p.S2165F	RVAQKELEEAVTSALQQETEKSKAA	RVAQKELEEAVTFALQQETEKSKAA	10.0	6.0	-	-	4253_1:39816665-39816665 C>T_RVAQKELEEAVTFALQQETEKSKAA
7:30951874-30951874 C>T	1.0	4253	MELANOMA	-	-	-	-	AQP1	uc011kac.1,p.S177F|ENST00000434909,p.S177F|ENST00000311813,p.S117F|NM_198098,p.S117F|uc003tbv.2,p.S117F|ENST00000509504,p.S294F	protein_coding, processed_transcript	uc011kac.1	nonsynonymous SNV	exon7	c.C530T	p.S177F	AIVATAILSGITSSLTGNSLGRNDL	AIVATAILSGITFSLTGNSLGRNDL	10.0	1.0	-	-	4253_7:30951874-30951874 C>T_AIVATAILSGITFSLTGNSLGRNDL
4:184192264-184192264 C>T	1.0	4253	MELANOMA	-	-	-	-	WWC2	uc010irx.3,p.P811L|uc003ivn.4,p.P326L|uc003ivk.4,p.P606L|NM_024949,p.P811L|ENST00000403733,p.P811L|ENST00000513834,p.P762L|ENST00000504005,p.P493L|uc010irz.3,p.P128L|uc010iry.3,p.P493L|ENST00000448232,p.P811L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010irz.3	nonsynonymous SNV	exon4	c.C383T	p.P128L	CLAGTQISLADLPFSSEVFTLWYNL	CLAGTQISLADLLFSSEVFTLWYNL	6.0	1.0	-	-	4253_4:184192264-184192264 C>T_CLAGTQISLADLLFSSEVFTLWYNL
15:34654841-34654841 G>A	1.0	4253	MELANOMA	-	-	-	-	LPCAT4	ENST00000314891,p.H273Y|NM_153613,p.H273Y|uc001zig.3,p.H273Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc001zig.3	nonsynonymous SNV	exon9	c.C817T	p.H273Y	CSIVDVEFLPVYHPSPEESRDPTLY	CSIVDVEFLPVYYPSPEESRDPTLY	8.0	3.0	-	-	4253_15:34654841-34654841 G>A_CSIVDVEFLPVYYPSPEESRDPTLY
21:35276303-35276303 G>T	1.0	4253	MELANOMA	-	-	-	-	ATP5O	ENST00000290299,p.S155Y|NM_001697,p.S155Y|uc002ytl.3,p.S155Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ytl.3	nonsynonymous SNV	exon6	c.C464A	p.S155Y	VTSASPLEEATLSELKTVLKSFLSQ	VTSASPLEEATLYELKTVLKSFLSQ	10.0	7.0	-	-	4253_21:35276303-35276303 G>T_VTSASPLEEATLYELKTVLKSFLSQ
3:179287645-179287645 C>T	1.0	4253	MELANOMA	-	-	-	-	ACTL6A	ENST00000429709,p.S20F|uc003fjw.3,p.S20F|NM_004301,p.S20F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fjw.3	nonsynonymous SNV	exon2	c.C59T	p.S20F	GDEVGALVFDIGSYTVRAGYAGEDC	GDEVGALVFDIGFYTVRAGYAGEDC	10.0	3.0	-	-	4253_3:179287645-179287645 C>T_GDEVGALVFDIGFYTVRAGYAGEDC
2:74141891-74141891 C>T	1.0	4253	MELANOMA	-	-	-	-	ACTG2	NM_001199893,p.S190F|uc002sjw.3,p.S233F|uc010fey.3,p.S233F|ENST00000409731,p.S190F|NM_001615,p.S233F|ENST00000345517,p.S233F|ENST00000409624,p.S233F|uc010yrn.2,p.S190F	retained_intron, protein_coding, nonsense_mediated_decay	uc010yrn.2	nonsynonymous SNV	exon6	c.C569T	p.S190F	ALDFENEMATAASSSSLEKSYELPD	ALDFENEMATAAFSSSLEKSYELPD	8.0	9.0	-	-	4253_2:74141891-74141891 C>T_ALDFENEMATAAFSSSLEKSYELPD
6:47576971-47576971 C>T	1.0	4253	MELANOMA	-	-	-	-	CD2AP	uc003oyw.3,p.S582F|NM_012120,p.S582F|ENST00000359314,p.S582F	retained_intron, protein_coding, processed_transcript	uc003oyw.3	nonsynonymous SNV	exon16	c.C1745T	p.S582F	KAKVETDDVKKNSLDELRAQIIELL	KAKVETDDVKKNFLDELRAQIIELL	8.0	4.0	unscreened	-	4253_6:47576971-47576971 C>T_KAKVETDDVKKNFLDELRAQIIELL
1:17318297-17318297 A>G	1.0	4253	MELANOMA	-	-	-	-	ATP13A2	ENST00000503552,p.L198P|NM_001141973,p.L723P|uc001bab.2,p.L723P|ENST00000452699,p.L723P|uc001baa.2,p.L728P|ENST00000326735,p.L728P|NM_022089,p.L728P|uc001bac.2,p.L723P|NM_001141974,p.L723P|ENST00000341676,p.L723P	retained_intron, protein_coding, processed_transcript	uc001bac.2	nonsynonymous SNV	exon20	c.T2168C	p.L723P	LSLLGLLVMRNLLKPQTTPVIQALR	LSLLGLLVMRNLPKPQTTPVIQALR	9.0	4.0	-	-	4253_1:17318297-17318297 A>G_LSLLGLLVMRNLPKPQTTPVIQALR
16:28602206-28602206 C>T	1.0	4253	MELANOMA	-	-	-	-	CCDC101	ENST00000317058,p.P239S|NM_138414,p.P239S|uc002dqf.3,p.P239S	retained_intron, protein_coding, nonsense_mediated_decay	uc002dqf.3	nonsynonymous SNV	exon9	c.C715T	p.P239S	LFQKEQLVLALYPQTTCFYRALIHA	LFQKEQLVLALYSQTTCFYRALIHA	10.0	7.0	-	-	4253_16:28602206-28602206 C>T_LFQKEQLVLALYSQTTCFYRALIHA
1:16641777-16641777 G>A	1.0	4253	MELANOMA	-	-	-	-	FBXO42	uc001ayg.3,p.S46F|ENST00000375592,p.S46F|uc001ayh.3,p.S46F|NM_018994,p.S46F	protein_coding, processed_transcript	uc001ayh.3	nonsynonymous SNV	exon1	c.C137T	p.S46F	PVLEAEETRHNRSMSELPEEVLEYI	PVLEAEETRHNRFMSELPEEVLEYI	7.0	4.0	-	-	4253_1:16641777-16641777 G>A_PVLEAEETRHNRFMSELPEEVLEYI
10:89624296-89624296 G>T	1.0	4253	MELANOMA	-	-	ID=COSM5237;OCCURENCE=1(ovary),2(endometrium),1(urinary_tract)	1	PTEN	NM_000314,p.D24Y|ENST00000371953,p.D24Y|uc001kfb.3,p.D24Y	protein_coding, processed_transcript	uc001kfb.3	nonsynonymous SNV	exon1	c.G70T	p.D24Y	NKRRYQEDGFDLDLTYIYPNIIAMG	NKRRYQEDGFDLYLTYIYPNIIAMG	9.0	10.0	-	-	4253_10:89624296-89624296 G>T_NKRRYQEDGFDLYLTYIYPNIIAMG
2:61275829-61275829 C>T	1.0	4253	MELANOMA	-	-	-	-	PEX13	ENST00000295030,p.S379F|NM_002618,p.S379F|uc002sau.4,p.S379F	protein_coding, processed_transcript	uc002sau.4	nonsynonymous SNV	exon4	c.C1136T	p.S379F	ADSLDEQEAAFESVFVETNKVPVAP	ADSLDEQEAAFEFVFVETNKVPVAP	8.0	9.0	-	-	4253_2:61275829-61275829 C>T_ADSLDEQEAAFEFVFVETNKVPVAP
1:19491796-19491796 G>A	1.0	4253	MELANOMA	-	-	-	-	UBR4	NM_020765,p.S1420F|ENST00000375226,p.S1420F|ENST00000375217,p.S1420F|ENST00000375267,p.S1420F|uc001bbm.1,p.S631F|ENST00000417040,p.S130F|uc001bbi.3,p.S1420F|ENST00000375254,p.S1420F	protein_coding, processed_transcript	uc001bbm.1	nonsynonymous SNV	exon14	c.C1892T	p.S631F	VQIMMATANENLSAKFCNRVLKFFT	VQIMMATANENLFAKFCNRVLKFFT	10.0	9.0	-	-	4253_1:19491796-19491796 G>A_VQIMMATANENLFAKFCNRVLKFFT
15:77241486-77241486 G>T	1.0	4253	MELANOMA	-	-	-	-	RCN2	uc002bcd.3,p.D293Y|ENST00000394883,p.D192Y|ENST00000394885,p.D293Y|uc031qsx.1,p.D311Y|NM_002902,p.D293Y|NM_001271837,p.D311Y|ENST00000320963,p.D311Y	retained_intron, protein_coding, nonsense_mediated_decay	uc031qsx.1	nonsynonymous SNV	exon8	c.G931T	p.D311Y	KKLSEEEILENPDLFLTSEATDYGR	KKLSEEEILENPYLFLTSEATDYGR	9.0	9.0	-	-	4253_15:77241486-77241486 G>T_KKLSEEEILENPYLFLTSEATDYGR
13:24334276-24334276 G>A	1.0	4253	MELANOMA	-	-	-	-	MIPEP	ENST00000433710,p.P41L	protein_coding, processed_transcript	ENST00000433710	nonsynonymous SNV	exon2	c.C122T	p.P41L	DITLTSCPERSPPWFGRSVFYRILS	DITLTSCPERSPLWFGRSVFYRILS	9.0	4.0	-	-	4253_13:24334276-24334276 G>A_DITLTSCPERSPLWFGRSVFYRILS
8:145139702-145139702 C>T	1.0	4253	MELANOMA	-	-	-	-	GPAA1	ENST00000355091,p.P363L|uc003zav.1,p.P241L|NM_003801,p.P363L|ENST00000361036,p.P303L|uc003zaw.1,p.P303L|uc003zax.3,p.P363L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zax.3	nonsynonymous SNV	exon8	c.C1088T	p.P363L	ERLHQSFFLYLLPGLSRFVSIGLYM	ERLHQSFFLYLLLGLSRFVSIGLYM	10.0	6.0	unscreened	-	4253_8:145139702-145139702 C>T_ERLHQSFFLYLLLGLSRFVSIGLYM
5:10415650-10415650 C>T	1.0	4253	MELANOMA	-	-	-	-	MARCH6	NM_001270661,p.H568Y|NM_005885,p.H673Y|uc011cmv.2,p.H568Y|uc003jet.2,p.H673Y|ENST00000503788,p.H568Y|uc011cmu.2,p.H625Y|uc003jeu.2,p.H371Y|ENST00000449913,p.H625Y|ENST00000510792,p.H371Y|ENST00000274140,p.H673Y|NM_001270660,p.H625Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmv.2	nonsynonymous SNV	exon18	c.C1702T	p.H568Y	WLMSFWTGTAKIHELYTAACGLYVC	WLMSFWTGTAKIYELYTAACGLYVC	8.0	6.0	-	-	4253_5:10415650-10415650 C>T_WLMSFWTGTAKIYELYTAACGLYVC
1:38269644-38269644 G>A	1.0	4253	MELANOMA	-	-	-	-	YRDC	uc001cca.1,p.L265F|ENST00000373044,p.L265F|NM_024640,p.L265F	protein_coding	uc001cca.1	nonsynonymous SNV	exon5	c.C793T	p.L265F	RPGCALESTTAILQQKYGLLPSHAS	RPGCALESTTAIFQQKYGLLPSHAS	8.0	6.0	-	-	4253_1:38269644-38269644 G>A_RPGCALESTTAIFQQKYGLLPSHAS
6:26452302-26452302 C>T	1.0	4253	MELANOMA	-	-	ID=COSM136524;OCCURENCE=1(skin)	-	BTN3A3	NM_006994,p.S473L|NM_001242803,p.S263L|uc021ynh.1,p.S263L|ENST00000361232,p.S424L|NM_197974,p.S424L|ENST00000244519,p.S473L|uc003nhz.3,p.S473L|ENST00000339789,p.S431L|uc011dkn.2,p.S424L	retained_intron, protein_coding	uc021ynh.1	nonsynonymous SNV	exon6	c.C788T	p.S263L	VGIFLDYETGEISFYNATDGSHIYT	VGIFLDYETGEILFYNATDGSHIYT	10.0	3.0	-	-	4253_6:26452302-26452302 C>T_VGIFLDYETGEILFYNATDGSHIYT
17:70120262-70120262 C>T	1.0	4253	MELANOMA	-	-	-	-	SOX9	uc002jiw.3,p.P422S|NM_000346,p.P422S|ENST00000245479,p.P422S	protein_coding	uc002jiw.3	nonsynonymous SNV	exon3	c.C1264T	p.P422S	QQQHSPQQIAYSPFNLPHYSPSYPP	QQQHSPQQIAYSSFNLPHYSPSYPP	7.0	7.0	unscreened	-	4253_17:70120262-70120262 C>T_QQQHSPQQIAYSSFNLPHYSPSYPP
20:40116420-40116420 G>A	1.0	4253	MELANOMA	-	-	-	-	CHD6	NM_032221,p.P629L|uc002xka.1,p.P629L|uc002xkd.2,p.P607L|ENST00000373233,p.P629L	protein_coding, processed_transcript	uc002xkd.2	nonsynonymous SNV	exon13	c.C1820T	p.P607L	MALEHKVLLTGTPLQNSVEELFSLL	MALEHKVLLTGTLLQNSVEELFSLL	10.0	9.0	unscreened	-	4253_20:40116420-40116420 G>A_MALEHKVLLTGTLLQNSVEELFSLL
20:33725736-33725736 C>T	1.0	4253	MELANOMA	-	-	-	-	EDEM2	ENST00000374491,p.C109Y|NM_001145025,p.C109Y|NM_018217,p.C146Y|ENST00000374492,p.C146Y|uc010zuv.2,p.C105Y|uc010zut.1,p.C105Y|uc002xbo.2,p.C146Y|ENST00000540582,p.C105Y|uc002xbq.2,p.C109Y	protein_coding	uc010zuv.2	nonsynonymous SNV	exon9	c.G314A	p.C105Y	KKAGVEVEAGWPCSGPLLRMAEEAA	KKAGVEVEAGWPYSGPLLRMAEEAA	9.0	4.0	-	-	4253_20:33725736-33725736 C>T_KKAGVEVEAGWPYSGPLLRMAEEAA
16:10575985-10575985 T>C	1.0	4253	MELANOMA	-	-	-	-	ATF7IP2	NM_024997,p.L643S|ENST00000396560,p.L643S|ENST00000356427,p.L643S|uc002czu.3,p.L643S|uc010uyp.2,p.L187S|ENST00000543967,p.L187S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uyp.2	nonsynonymous SNV	exon6	c.T560C	p.L187S	EIKALPLPMACTLSQFLASNRYYFT	EIKALPLPMACTSSQFLASNRYYFT	9.0	7.0	-	-	4253_16:10575985-10575985 T>C_EIKALPLPMACTSSQFLASNRYYFT
5:71495346-71495346 C>T	1.0	4253	MELANOMA	-	-	-	-	MAP1B	uc010iyx.1,p.S1929F|NM_005909,p.S2055F|ENST00000296755,p.S2055F|uc003kbw.4,p.S2055F|uc010iyy.1,p.S1929F|uc010iyw.1,p.S2072F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010iyy.1	nonsynonymous SNV	exon4	c.C5786T	p.S1929F	ETAEKITRTPQASTYSYETSDLCYT	ETAEKITRTPQAFTYSYETSDLCYT	9.0	5.0	-	-	4253_5:71495346-71495346 C>T_ETAEKITRTPQAFTYSYETSDLCYT
1:109810212-109810212 C>T	1.0	4253	MELANOMA	-	-	-	-	CELSR2	ENST00000271332,p.P2019L|NM_001408,p.P2019L|uc001dxa.4,p.P2019L	protein_coding, processed_transcript	uc001dxa.4	nonsynonymous SNV	exon16	c.C6056T	p.P2019L	AVRHCDEHRGWLPPNLFNCTSITFS	AVRHCDEHRGWLLPNLFNCTSITFS	8.0	9.0	-	-	4253_1:109810212-109810212 C>T_AVRHCDEHRGWLLPNLFNCTSITFS
22:24462986-24462986 A>G	1.0	4253	MELANOMA	-	-	-	-	CABIN1	NM_001201429,p.I646V|NM_001199281,p.I696V|NM_012295,p.I696V|uc002zzj.1,p.I646V|uc002zzi.1,p.I696V|uc021wnc.1,p.I646V|ENST00000405822,p.I646V|ENST00000263119,p.I696V|ENST00000398319,p.I696V|uc002zzl.2,p.I696V	retained_intron, protein_coding, processed_transcript	uc021wnc.1	nonsynonymous SNV	exon15	c.A1936G	p.I646V	LKSLERCQSLEEIQRLYEAGDYKAV	LKSLERCQSLEEVQRLYEAGDYKAV	9.0	10.0	-	-	4253_22:24462986-24462986 A>G_LKSLERCQSLEEVQRLYEAGDYKAV
1:235969114-235969114 C>T	1.0	4253	MELANOMA	-	-	-	-	LYST	ENST00000389793,p.A1108T|uc001hxl.2,p.A1108T|ENST00000389794,p.A1108T|NM_000081,p.A1108T|uc001hxj.3,p.A1108T|ENST00000536965,p.A1108T|NM_001301365,p.A1108T	retained_intron, protein_coding, processed_transcript	uc001hxl.2	nonsynonymous SNV	exon6	c.G3322A	p.A1108T	SETSLQSIRLLEALLAICLHGARTS	SETSLQSIRLLETLLAICLHGARTS	9.0	1.0	-	-	4253_1:235969114-235969114 C>T_SETSLQSIRLLETLLAICLHGARTS
19:19456165-19456165 C>T	1.0	4253	MELANOMA	-	-	-	-	MAU2	ENST00000392313,p.T403I|ENST00000262815,p.T403I|NM_015329,p.T403I|uc002nmk.4,p.T403I	retained_intron, protein_coding, processed_transcript	uc002nmk.4	nonsynonymous SNV	exon12	c.C1208T	p.T403I	SVNCMDNAEAQFTTALRLTNHQELW	SVNCMDNAEAQFITALRLTNHQELW	8.0	8.0	-	-	4253_19:19456165-19456165 C>T_SVNCMDNAEAQFITALRLTNHQELW
12:122672353-122672353 C>T	1.0	4253	MELANOMA	-	-	-	-	LRRC43	NM_001098519,p.P210S|ENST00000339777,p.P210S|NM_152759,p.P25S|uc009zxm.3,p.P210S|uc001ubw.4,p.P25S|ENST00000537729,p.P25S|ENST00000425921,p.P25S	retained_intron, protein_coding, processed_transcript	uc009zxm.3	nonsynonymous SNV	exon4	c.C628T	p.P210S	QHLGLGHNKLLGPLESLYVTANHWP	QHLGLGHNKLLGSLESLYVTANHWP	6.0	6.0	unscreened	-	4253_12:122672353-122672353 C>T_QHLGLGHNKLLGSLESLYVTANHWP
22:30977592-30977592 T>A	1.0	4253	MELANOMA	-	-	-	-	PES1	NM_001282328,p.T85S|uc003aij.2,p.T224S|ENST00000354694,p.T224S|ENST00000335214,p.T224S|ENST00000405677,p.T85S|uc003ain.1,p.T85S|NM_001282327,p.T85S|uc003aik.2,p.T224S|NM_001243225,p.T224S|NM_014303,p.T224S|ENST00000402284,p.T207S|uc003aio.1,p.T85S|ENST00000402281,p.T85S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003aio.1	nonsynonymous SNV	exon9	c.A253T	p.T85S	PTDVDYRVMATFTEFYTTLLGFVNF	PTDVDYRVMATFSEFYTTLLGFVNF	10.0	10.0	-	-	4253_22:30977592-30977592 T>A_PTDVDYRVMATFSEFYTTLLGFVNF
19:48735034-48735034 G>A	1.0	4253	MELANOMA	-	-	-	-	CARD8	NM_001184902,p.S142F|uc031rlm.1,p.S32F|uc010xzm.2,p.S142F|NM_014959,p.S92F|ENST00000447740,p.S92F|ENST00000520153,p.S92F|ENST00000520015,p.S142F|uc010xzl.2,p.S92F|uc010els.3,p.S75F|NM_001184903,p.S142F|ENST00000521613,p.S92F|ENST00000519940,p.S142F|ENST00000519302,p.S92F|uc010xzj.2,p.S142F|NM_001184901,p.S92F|NM_001184900,p.S142F|ENST00000391898,p.S142F|uc002pii.4,p.S142F|ENST00000520753,p.S142F|uc002pih.4,p.S92F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rlm.1	nonsynonymous SNV	exon6	c.C95T	p.S32F	SGDICSEENQIVSSYASKVCFEIEE	SGDICSEENQIVFSYASKVCFEIEE	9.0	8.0	-	-	4253_19:48735034-48735034 G>A_SGDICSEENQIVFSYASKVCFEIEE
19:48735034-48735034 G>A	1.0	4253	MELANOMA	-	-	-	-	CARD8	uc010xzi.1,p.S37F|uc002pie.4,p.S37F|ENST00000359009,p.S37F|uc021uwq.1,p.S37F|uc010xzk.2,p.S61F|uc002pif.4,p.S37F|uc021uwr.1,p.S37F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uwr.1	nonsynonymous SNV	exon4	c.C110T	p.S37F	PGDICSEENQIVSSYASKVCFEIEE	PGDICSEENQIVFSYASKVCFEIEE	9.0	8.0	unscreened	-	4253_19:48735034-48735034 G>A_PGDICSEENQIVFSYASKVCFEIEE
12:53647452-53647452 G>A	1.0	4253	MELANOMA	-	-	-	-	MFSD5	uc021qye.1,p.G278E|ENST00000329548,p.G278E|uc001sch.2,p.G385E|uc001sci.2,p.G278E|ENST00000551660,p.G385E|NM_001170790,p.G385E|ENST00000534842,p.G385E|NM_032889,p.G278E	protein_coding, processed_transcript	uc021qye.1	nonsynonymous SNV	exon1	c.G833A	p.G278E	FVFLWTPVLDPHGAPLGIIFSSFMA	FVFLWTPVLDPHEAPLGIIFSSFMA	9.0	8.0	-	-	4253_12:53647452-53647452 G>A_FVFLWTPVLDPHEAPLGIIFSSFMA
5:148392191-148392191 G>A	1.0	4253	MELANOMA	-	-	-	-	SH3TC2	uc003lpt.3,p.H601Y|uc003lpu.3,p.H1054Y|ENST00000512049,p.H1047Y|ENST00000515425,p.H1054Y|uc010jgw.3,p.H698Y|ENST00000504690,p.H1054Y|NM_024577,p.H1054Y|ENST00000538184,p.H601Y|uc010jgx.3,p.H1047Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jgx.3	nonsynonymous SNV	exon13	c.C3139T	p.H1047Y	KAAEAWLGAGRLHYLMQEDELVELC	KAAEAWLGAGRLYYLMQEDELVELC	7.0	5.0	-	-	4253_5:148392191-148392191 G>A_KAAEAWLGAGRLYYLMQEDELVELC
1:21599356-21599356 G>A	1.0	4253	MELANOMA	-	-	-	-	ECE1	uc001bek.2,p.S110F|ENST00000374893,p.S110F|uc001bei.2,p.S107F|NM_001113349,p.S107F|uc009vqa.1,p.S110F|NM_001113347,p.S98F|ENST00000436918,p.S110F|NM_001113348,p.S94F|NM_001397,p.S110F|ENST00000481130,p.S96F|ENST00000357071,p.S98F|ENST00000264205,p.S107F|ENST00000415912,p.S94F|uc001bej.2,p.S98F|uc010odl.1,p.S110F|uc001bem.2,p.S94F	retained_intron, protein_coding, processed_transcript	uc010odl.1	nonsynonymous SNV	exon4	c.C329T	p.S110F	VCLSEACVSVTSSILSSMDPTVDPC	VCLSEACVSVTSFILSSMDPTVDPC	9.0	6.0	-	-	4253_1:21599356-21599356 G>A_VCLSEACVSVTSFILSSMDPTVDPC
1:19505635-19505635 G>A	1.0	4253	MELANOMA	-	-	-	-	UBR4	ENST00000375254,p.S755F|NM_020765,p.S755F|ENST00000375267,p.S755F|ENST00000375226,p.S755F|ENST00000375217,p.S755F|uc001bbi.3,p.S755F	protein_coding, processed_transcript	uc001bbi.3	nonsynonymous SNV	exon18	c.C2264T	p.S755F	GPWPLYIHPQSLSVLSRLLLIWQHK	GPWPLYIHPQSLFVLSRLLLIWQHK	10.0	5.0	-	-	4253_1:19505635-19505635 G>A_GPWPLYIHPQSLFVLSRLLLIWQHK
11:66335851-66335851 G>A	1.0	4253	MELANOMA	-	-	-	-	CTSF	NM_003793,p.S36F|uc001oip.3,p.S36F|ENST00000310325,p.S36F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001oip.3	nonsynonymous SNV	exon1	c.C107T	p.S36F	PRAASFQAWGPPSPELLAPTRFALE	PRAASFQAWGPPFPELLAPTRFALE	10.0	2.0	-	-	4253_11:66335851-66335851 G>A_PRAASFQAWGPPFPELLAPTRFALE
16:74937973-74937973 G>A	1.0	4253	MELANOMA	-	-	-	-	WDR59	uc002fdf.1,p.H25Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fdf.1	nonsynonymous SNV	exon1	c.C73T	p.H25Y	FNYRSLSALSAYHTGLIAPMKIRTE	FNYRSLSALSAYYTGLIAPMKIRTE	9.0	6.0	-	-	4253_16:74937973-74937973 G>A_FNYRSLSALSAYYTGLIAPMKIRTE
16:74937973-74937973 G>A	1.0	4253	MELANOMA	-	-	-	-	WDR59	NM_030581,p.H580Y|uc002fdh.1,p.H580Y|uc002fdg.1,p.H172Y|ENST00000262144,p.H580Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fdh.1	nonsynonymous SNV	exon18	c.C1738T	p.H580Y	PTPRSLSALSAYHTGLIAPMKIRTE	PTPRSLSALSAYYTGLIAPMKIRTE	9.0	6.0	-	-	4253_16:74937973-74937973 G>A_PTPRSLSALSAYYTGLIAPMKIRTE
11:46772748-46772748 G>A	1.0	4253	MELANOMA	-	-	-	-	CKAP5	uc001ndi.2,p.L1794F|uc001ndh.1,p.L723F|ENST00000354558,p.L1734F|ENST00000415402,p.L1801F|uc009ylg.1,p.L1687F|ENST00000312055,p.L1734F|NM_001008938,p.L1794F|ENST00000529230,p.L1794F|uc001ndj.2,p.L1734F|NM_014756,p.L1734F	retained_intron, protein_coding, processed_transcript	uc009ylg.1	nonsynonymous SNV	exon38	c.C5059T	p.L1687F	IDNKNESELEAHLCRMMKHSMDQTG	IDNKNESELEAHFCRMMKHSMDQTG	8.0	2.0	unscreened	-	4253_11:46772748-46772748 G>A_IDNKNESELEAHFCRMMKHSMDQTG
X:3242042-3242042 C>T	1.0	4253	MELANOMA	-	-	-	-	MXRA5	NM_015419,p.E562K|uc004crg.4,p.E562K|ENST00000217939,p.E562K	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.G1684A	p.E562K	SGLYQCIAQVRDEMDRMVYRVLVQS	SGLYQCIAQVRDKMDRMVYRVLVQS	8.0	10.0	unscreened	-	4253_X:3242042-3242042 C>T_SGLYQCIAQVRDKMDRMVYRVLVQS
14:57092226-57092226 C>T	1.0	4253	MELANOMA	-	-	-	-	TMEM260	uc001xcm.3,p.H509Y|ENST00000536419,p.H43Y|ENST00000261556,p.H509Y|NM_017799,p.H509Y|uc001xco.3,p.H42Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xco.3	nonsynonymous SNV	exon4	c.C124T	p.H42Y	ILPSGMVTFNLYHFLEVNKQKETFV	ILPSGMVTFNLYYFLEVNKQKETFV	8.0	9.0	unscreened	-	4253_14:57092226-57092226 C>T_ILPSGMVTFNLYYFLEVNKQKETFV
13:41794715-41794715 G>T	1.0	4253	MELANOMA	-	-	-	-	LOC101929140	uc010tff.2,p.S443Y|ENST00000430347,p.S443Y	protein_coding, processed_transcript	uc010tff.2	nonsynonymous SNV	exon11	c.C1328A	p.S443Y	RDPAHSTFLSLDSVRSPGILIMTSS	RDPAHSTFLSLDYVRSPGILIMTSS	8.0	3.0	-	-	4253_13:41794715-41794715 G>T_RDPAHSTFLSLDYVRSPGILIMTSS
13:113741737-113741737 A>C	1.0	4253	MELANOMA	-	-	-	-	MCF2L	uc031qnl.1,p.K858N|ENST00000434480,p.K860N|ENST00000375597,p.K852N|NM_001112732,p.K854N|ENST00000421756,p.K858N|ENST00000375601,p.K858N|uc010tjr.2,p.K854N|uc031qnk.1,p.K887N|ENST00000535094,p.K854N|ENST00000375604,p.K911N|ENST00000442652,p.K884N|ENST00000423482,p.K852N|ENST00000375608,p.K884N|NM_024979,p.K852N|uc001vss.4,p.K852N|ENST00000397030,p.K887N|uc010tjs.2,p.K852N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qnl.1	nonsynonymous SNV	exon22	c.A2574C	p.K858N	CKKREENGEGYEKAPSYSYKQSLNM	CKKREENGEGYENAPSYSYKQSLNM	8.0	5.0	-	-	4253_13:113741737-113741737 A>C_CKKREENGEGYENAPSYSYKQSLNM
19:33444663-33444663 G>A	1.0	4253	MELANOMA	-	-	-	2	CEP89	ENST00000591698,p.S33F|ENST00000590597,p.S117F|NM_032816,p.S117F|ENST00000586984,p.S117F|ENST00000305768,p.S117F|uc002nty.3,p.S117F|uc002nua.3,p.S117F	retained_intron, protein_coding, nonsense_mediated_decay	uc002nua.3	nonsynonymous SNV	exon4	c.C350T	p.S117F	WQSEMGRRSSLPSFETLDYGDEEDI	WQSEMGRRSSLPFFETLDYGDEEDI	8.0	7.0	-	-	4253_19:33444663-33444663 G>A_WQSEMGRRSSLPFFETLDYGDEEDI
2:27001236-27001236 A>T	1.0	4253	MELANOMA	-	-	-	-	SLC35F6	uc002rhq.1,p.I242L|ENST00000344420,p.I325L|NM_017877,p.I325L|uc010ylc.1,p.I178L|uc010eyo.1,p.I272L|uc002rhp.1,p.I325L|ENST00000416475,p.I242L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ylc.1	nonsynonymous SNV	exon3	c.A532T	p.I178L	EAFHALQILGFLILLIGTALYNGLH	EAFHALQILGFLLLLIGTALYNGLH	9.0	3.0	-	-	4253_2:27001236-27001236 A>T_EAFHALQILGFLLLLIGTALYNGLH
14:73586421-73586421 G>A	1.0	4253	MELANOMA	-	-	-	-	RBM25	ENST00000261973,p.V814I|uc010ttu.2,p.V814I|ENST00000527432,p.V814I|NM_021239,p.V814I|uc001xnp.3,p.V609I|uc001xno.3,p.V814I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ttu.2	nonsynonymous SNV	exon20	c.G2440A	p.V814I	SSPQSILDDVAMVLDEEAEVFIVKM	SSPQSILDDVAMILDEEAEVFIVKM	10.0	1.0	-	-	4253_14:73586421-73586421 G>A_SSPQSILDDVAMILDEEAEVFIVKM
21:37571393-37571393 C>T	1.0	4253	MELANOMA	-	-	-	-	DOPEY2	ENST00000270190,p.S55F|ENST00000399151,p.S55F|uc011aeb.2,p.S55F|NM_005128,p.S55F|uc002yvg.3,p.S55F	retained_intron, protein_coding, processed_transcript	uc011aeb.2	nonsynonymous SNV	exon2	c.C164T	p.S55F	KLNKALQSNLRYSLLPRRLLISKRL	KLNKALQSNLRYFLLPRRLLISKRL	6.0	4.0	-	-	4253_21:37571393-37571393 C>T_KLNKALQSNLRYFLLPRRLLISKRL
19:37677733-37677733 G>A	1.0	4253	MELANOMA	-	-	-	-	ZNF585B	NM_152279,p.H236Y|uc002ofq.3,p.H236Y|uc002ofr.1,p.H50Y|ENST00000531805,p.H181Y|ENST00000532828,p.H236Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ofr.1	nonsynonymous SNV	exon6	c.C148T	p.H50Y	PYNSDLSIHEKIHTGERHHECTDCG	PYNSDLSIHEKIYTGERHHECTDCG	7.0	3.0	unscreened	-	4253_19:37677733-37677733 G>A_PYNSDLSIHEKIYTGERHHECTDCG
16:86545010-86545010 A>T	1.0	4253	MELANOMA	-	-	-	-	FOXF1	uc002fjl.3,p.N279Y|NM_001451,p.N279Y|ENST00000262426,p.N279Y	protein_coding	uc002fjl.3	nonsynonymous SNV	exon1	c.A835T	p.N279Y	AAAWPPSASAALNSGASYIKQQPLS	AAAWPPSASAALYSGASYIKQQPLS	6.0	6.0	unscreened	-	4253_16:86545010-86545010 A>T_AAAWPPSASAALYSGASYIKQQPLS
1:172411366-172411366 A>T	1.0	4253	MELANOMA	-	-	-	-	PIGC	NM_002642,p.F133I|uc001gio.3,p.F133I|ENST00000367728,p.F133I|ENST00000258324,p.F133I|ENST00000344529,p.F133I|NM_153747,p.F133I|uc021pey.1,p.F133I|uc001gin.3,p.F133I	protein_coding, processed_transcript	uc021pey.1	nonsynonymous SNV	exon1	c.T397A	p.F133I	KSALVFITFTYGFSPVLKTLTESVS	KSALVFITFTYGISPVLKTLTESVS	9.0	2.0	-	-	4253_1:172411366-172411366 A>T_KSALVFITFTYGISPVLKTLTESVS
2:39931278-39931278 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1229591;OCCURENCE=2(large_intestine)	-	TMEM178A	uc010fam.2,p.R153Q|ENST00000281961,p.R153Q|NM_152390,p.R153Q|uc002rrt.3,p.R153Q	protein_coding, processed_transcript	uc010fam.2	nonsynonymous SNV	exon2	c.G458A	p.R153Q	AIKYHFSQPIRLRNIPFNLTKTIQQ	AIKYHFSQPIRLQNIPFNLTKTIQQ	6.0	4.0	unscreened	-	4253_2:39931278-39931278 G>A_AIKYHFSQPIRLQNIPFNLTKTIQQ
18:34802066-34802066 G>A	1.0	4253	MELANOMA	-	-	-	-	KIAA1328	ENST00000280020,p.G537E|uc002kzz.3,p.G537E|uc002lac.1,p.G396E|ENST00000591619,p.G533E|NM_020776,p.G537E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002lac.1	nonsynonymous SNV	exon6	c.G1187A	p.G396E	APKPQRYPSREAGAWNHGTFRLSPL	APKPQRYPSREAEAWNHGTFRLSPL	7.0	7.0	unscreened	-	4253_18:34802066-34802066 G>A_APKPQRYPSREAEAWNHGTFRLSPL
5:176024719-176024719 G>A	1.0	4253	MELANOMA	-	-	-	-	GPRIN1	NM_052899,p.S706F|ENST00000303991,p.S706F|uc003meo.1,p.S706F|uc021yif.1,p.S706F	protein_coding	uc021yif.1	nonsynonymous SNV	exon1	c.C2117T	p.S706F	ADSAPSRKTESPSLGKVVPLSLEKT	ADSAPSRKTESPFLGKVVPLSLEKT	6.0	6.0	unscreened	-	4253_5:176024719-176024719 G>A_ADSAPSRKTESPFLGKVVPLSLEKT
12:112915464-112915464 C>T	1.0	4253	MELANOMA	-	-	-	1	PTPN11	uc001ttx.3,p.T288I|NM_080601,p.T288I|ENST00000392597,p.T288I|NM_002834,p.T288I|uc001ttw.1,p.T288I|ENST00000351677,p.T288I	protein_coding, processed_transcript	uc001ttx.3	nonsynonymous SNV	exon8	c.C863T	p.T288I	KNRYKNILPFDHTRVVLHDGDPNEP	KNRYKNILPFDHIRVVLHDGDPNEP	8.0	6.0	CD8	-	4253_12:112915464-112915464 C>T_KNRYKNILPFDHIRVVLHDGDPNEP
1:36937986-36937986 G>A	1.0	4253	MELANOMA	-	-	-	1	CSF3R	uc001caw.2,p.P284S|ENST00000418048,p.P284S|uc001cav.2,p.P284S|ENST00000373103,p.P284S|ENST00000361632,p.P284S|NM_000760,p.P284S|ENST00000373104,p.P284S|NM_156039,p.P284S|ENST00000373106,p.P284S|ENST00000338937,p.P284S|ENST00000331941,p.P284S|ENST00000440588,p.P284S|uc001cax.2,p.P284S|NM_172313,p.P284S	retained_intron, protein_coding, processed_transcript	uc001cax.2	nonsynonymous SNV	exon8	c.C850T	p.P284S	PQRGEASWALVGPLPLEALQYELCG	PQRGEASWALVGSLPLEALQYELCG	7.0	7.0	-	-	4253_1:36937986-36937986 G>A_PQRGEASWALVGSLPLEALQYELCG
21:46929424-46929424 C>T	1.0	4253	MELANOMA	-	-	-	-	COL18A1	ENST00000342220,p.P483L|uc002zhj.3,p.P113L|NM_030582,p.P1312L|ENST00000359759,p.P1550L|ENST00000400337,p.P1135L|NM_130445,p.P1132L|ENST00000355480,p.P1315L	retained_intron, protein_coding, processed_transcript	uc002zhj.3	nonsynonymous SNV	exon6	c.C338T	p.P113L	ASPPRLPEPQPYPGAPHHSSYVHLR	ASPPRLPEPQPYLGAPHHSSYVHLR	10.0	7.0	-	-	4253_21:46929424-46929424 C>T_ASPPRLPEPQPYLGAPHHSSYVHLR
7:92219593-92219593 C>A	1.0	4253	MELANOMA	-	-	-	-	FAM133B	uc003umc.3,p.D5Y|uc022ahf.1,p.D5Y|ENST00000445716,p.D5Y|NM_152789,p.D5Y|ENST00000415397,p.D5Y	retained_intron, protein_coding, nonsense_mediated_decay	uc022ahf.1	nonsynonymous SNV	exon1	c.G13T	p.D5Y	MGKRDNRVAYMNPIAMA	MGKRYNRVAYMNPIAMA	10.0	4.0	-	-	4253_7:92219593-92219593 C>A_MGKRYNRVAYMNPIAMA
1:229779282-229779282 C>T	1.0	4253	MELANOMA	-	-	ID=COSM1689944;OCCURENCE=1(skin)	-	URB2	uc009xfd.1,p.P1213S|NM_014777,p.P1213S|uc001hts.1,p.P1213S|ENST00000258243,p.P1213S	protein_coding	uc009xfd.1	nonsynonymous SNV	exon5	c.C3637T	p.P1213S	SMFHSVRRVLADPEIPVQVTQDIEP	SMFHSVRRVLADSEIPVQVTQDIEP	6.0	2.0	unscreened	-	4253_1:229779282-229779282 C>T_SMFHSVRRVLADSEIPVQVTQDIEP
3:119087245-119087245 C>T	1.0	4253	MELANOMA	-	-	-	-	ARHGAP31	ENST00000264245,p.P77L|ENST00000482743,p.P48L|NM_020754,p.P77L|uc003ecj.4,p.P77L	protein_coding	uc003ecj.4	nonsynonymous SNV	exon3	c.C230T	p.P77L	QRLRQEFGSDQCPDLTREVYLQDIH	QRLRQEFGSDQCLDLTREVYLQDIH	6.0	2.0	unscreened	-	4253_3:119087245-119087245 C>T_QRLRQEFGSDQCLDLTREVYLQDIH
17:80615899-80615899 G>A	1.0	4253	MELANOMA	-	-	ID=COSM986161;OCCURENCE=1(endometrium)	-	RAB40B	NM_006822,p.S226L|uc002kft.3,p.S226L|ENST00000571995,p.S226L|ENST00000269347,p.S47L	retained_intron, protein_coding, processed_transcript	uc002kft.3	nonsynonymous SNV	exon6	c.C677T	p.S226L	LPIALRSHLKSFSMANGLNARMMHG	LPIALRSHLKSFLMANGLNARMMHG	7.0	6.0	-	-	4253_17:80615899-80615899 G>A_LPIALRSHLKSFLMANGLNARMMHG
X:54777532-54777532 G>T	1.0	4253	MELANOMA	-	-	-	-	ITIH6	NM_198510,p.H1212N|ENST00000218436,p.H1212N|uc004dtj.2,p.H1212N	protein_coding, processed_transcript	uc004dtj.2	nonsynonymous SNV	exon12	c.C3634A	p.H1212N	RLGPYLEFLVLRHRYRHPSTLQLPH	RLGPYLEFLVLRNRYRHPSTLQLPH	8.0	6.0	-	-	4253_X:54777532-54777532 G>T_RLGPYLEFLVLRNRYRHPSTLQLPH
1:168153168-168153168 C>G	1.0	4253	MELANOMA	-	-	-	-	TIPRL	ENST00000367833,p.L45V|uc001gfg.3,p.L45V|ENST00000367830,p.L45V|uc001gff.3,p.L45V|NM_152902,p.L45V|NM_001031800,p.L45V	protein_coding	uc001gfg.3	nonsynonymous SNV	exon2	c.C133G	p.L45V	VEKLADELHMPSLPEMMFGDNVLRI	VEKLADELHMPSVPEMMFGDNVLRI	9.0	3.0	-	-	4253_1:168153168-168153168 C>G_VEKLADELHMPSVPEMMFGDNVLRI
22:50752134-50752134 G>A	1.0	4253	MELANOMA	-	-	-	-	DENND6B	uc011arv.1,p.P408L|ENST00000413817,p.P408L|NM_001001794,p.P408L	retained_intron, protein_coding, processed_transcript	uc011arv.1	nonsynonymous SNV	exon15	c.C1223T	p.P408L	LKRLLKGVQKKRPSDVQSALLRRHL	LKRLLKGVQKKRLSDVQSALLRRHL	7.0	10.0	-	-	4253_22:50752134-50752134 G>A_LKRLLKGVQKKRLSDVQSALLRRHL
9:17394763-17394763 G>A	1.0	4253	MELANOMA	-	-	-	-	CNTLN	ENST00000425824,p.V771I|ENST00000380647,p.V771I|ENST00000262360,p.V771I|uc003zmy.3,p.V771I|NM_017738,p.V771I|uc003zmz.2,p.V771I|uc010mio.3,p.V450I	protein_coding, processed_transcript	uc010mio.3	nonsynonymous SNV	exon11	c.G1348A	p.V450I	ELQVKISELETEVTSLRRQVAEANA	ELQVKISELETEITSLRRQVAEANA	8.0	10.0	unscreened	-	4253_9:17394763-17394763 G>A_ELQVKISELETEITSLRRQVAEANA
3:172098794-172098794 A>G	1.0	4253	MELANOMA	-	-	-	-	FNDC3B	ENST00000336824,p.I1072V|ENST00000416957,p.I1072V|uc003fhy.3,p.I1072V|NM_001135095,p.I1072V|uc003fhz.4,p.I1072V|NM_022763,p.I1072V|ENST00000415807,p.I1072V	retained_intron, protein_coding, processed_transcript	uc003fhz.4	nonsynonymous SNV	exon25	c.A3214G	p.I1072V	PRVTQLEGNSCEILWETVPSMKGDP	PRVTQLEGNSCEVLWETVPSMKGDP	8.0	4.0	unscreened	-	4253_3:172098794-172098794 A>G_PRVTQLEGNSCEVLWETVPSMKGDP
5:125887739-125887739 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1696121,COSM1696120;OCCURENCE=1(skin)	-	ALDH7A1	uc003ktv.3,p.P52S|ENST00000553117,p.P367S|ENST00000409134,p.P431S|NM_001182,p.P431S|uc011cxa.2,p.P394S|NM_001201377,p.P403S|ENST00000447989,p.P394S|NM_001202404,p.P394S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cxa.2	nonsynonymous SNV	exon12	c.C1180T	p.P394S	HDASIAHTETFAPILYVFKFKNEEE	HDASIAHTETFASILYVFKFKNEEE	10.0	5.0	-	-	4253_5:125887739-125887739 G>A_HDASIAHTETFASILYVFKFKNEEE
3:18390825-18390825 G>A	1.0	4253	MELANOMA	-	-	-	-	SATB1	NM_001131010,p.S710F|ENST00000417717,p.S742F|uc003cbi.3,p.S742F|NM_002971,p.S710F|NM_001195470,p.S742F|ENST00000338745,p.S710F|uc003cbj.3,p.S710F|ENST00000454909,p.S710F|uc003cbh.3,p.S710F	retained_intron, protein_coding	uc003cbj.3	nonsynonymous SNV	exon11	c.C2129T	p.S710F	YYLKHHGKLKDNSGLEVDVAEYKEE	YYLKHHGKLKDNFGLEVDVAEYKEE	8.0	1.0	unscreened	-	4253_3:18390825-18390825 G>A_YYLKHHGKLKDNFGLEVDVAEYKEE
5:96139577-96139577 G>A	1.0	4253	MELANOMA	-	-	-	-	ERAP1	NM_001040458,p.S18F|uc003kmm.3,p.S18F|ENST00000507154,p.S18F|uc003kmn.3,p.S18F|ENST00000296754,p.S18F|NM_016442,p.S18F|NM_001198541,p.S18F|ENST00000443439,p.S18F|uc003kml.3,p.S18F	retained_intron, protein_coding, processed_transcript	uc003kmn.3	nonsynonymous SNV	exon2	c.C53T	p.S18F	LKWSLATMSFLLSSLLALLTVSTPS	LKWSLATMSFLLFSLLALLTVSTPS	7.0	7.0	-	-	4253_5:96139577-96139577 G>A_LKWSLATMSFLLFSLLALLTVSTPS
17:42981338-42981338 G>A	0.0	4253	MELANOMA	-	-	-	-	CCDC103	ENST00000331733,p.M47I|uc002ihp.1,p.M47I|ENST00000412523,p.M47I	protein_coding	uc002ihp.1	nonsynonymous SNV	exon1	c.G141A	p.M47I	FLMFENAAYLADMSFELPCHCKPEE	FLMFENAAYLADISFELPCHCKPEE	6.0	7.0	unscreened	-	4253_17:42981338-42981338 G>A_FLMFENAAYLADISFELPCHCKPEE
1:22211293-22211293 G>A	1.0	4253	MELANOMA	-	-	-	-	HSPG2	uc001bfj.3,p.P492S|NM_005529,p.P492S|ENST00000374695,p.P492S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bfj.3	nonsynonymous SNV	exon12	c.C1474T	p.P492S	EAMNARGMVFGIPDGVLELVPQRGP	EAMNARGMVFGISDGVLELVPQRGP	10.0	4.0	-	-	4253_1:22211293-22211293 G>A_EAMNARGMVFGISDGVLELVPQRGP
15:48729194-48729194 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1252199;OCCURENCE=1(oesophagus)	-	FBN1	NM_000138,p.P2154S|ENST00000316623,p.P2154S|uc001zwx.2,p.P2154S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zwx.2	nonsynonymous SNV	exon53	c.C6460T	p.P2154S	CINTDGSYRCECPFGYILAGNECVD	CINTDGSYRCECSFGYILAGNECVD	8.0	10.0	unscreened	-	4253_15:48729194-48729194 G>A_CINTDGSYRCECSFGYILAGNECVD
1:222895793-222895793 C>T	1.0	4253	MELANOMA	-	-	ID=COSM1689889;OCCURENCE=1(skin)	-	BROX	ENST00000340934,p.S113F|NM_001288581,p.S113F|uc010puu.1,p.S113F|NM_144695,p.S113F|ENST00000426638,p.S113F|ENST00000537020,p.S113F|uc001hnq.1,p.S113F	protein_coding, processed_transcript	uc010puu.1	nonsynonymous SNV	exon5	c.C338T	p.S113F	PSAQQDAVFELISMGFNVALWYTKY	PSAQQDAVFELIFMGFNVALWYTKY	8.0	8.0	-	-	4253_1:222895793-222895793 C>T_PSAQQDAVFELIFMGFNVALWYTKY
16:28847701-28847701 C>T	1.0	4253	MELANOMA	-	-	-	-	ATXN2L	NM_148414,p.S1065F|uc002dqy.4,p.S1065F|ENST00000395547,p.S1065F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dqy.4	nonsynonymous SNV	exon23	c.C3194T	p.S1065F	SHSRRRQGLAPGSVLCFPPSSLSCD	SHSRRRQGLAPGFVLCFPPSSLSCD	10.0	6.0	unscreened	-	4253_16:28847701-28847701 C>T_SHSRRRQGLAPGFVLCFPPSSLSCD
20:50406731-50406731 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1028043;OCCURENCE=1(endometrium)	1	SALL4	NM_020436,p.S764F|ENST00000217086,p.S764F|uc002xwh.4,p.S764F	protein_coding, processed_transcript	uc002xwh.4	nonsynonymous SNV	exon2	c.C2291T	p.S764F	GSVESDGLTNDSSSLMGDQEYQSRS	GSVESDGLTNDSFSLMGDQEYQSRS	6.0	4.0	-	-	4253_20:50406731-50406731 G>A_GSVESDGLTNDSFSLMGDQEYQSRS
3:178917684-178917684 A>G	1.0	4253	MELANOMA	-	-	-	1	PIK3CA	NM_006218,p.K187E|ENST00000263967,p.K187E|uc003fjk.3,p.K187E	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon3	c.A559G	p.K187E	PELPKHIYNKLDKGQIIVVIWVIVS	PELPKHIYNKLDEGQIIVVIWVIVS	6.0	3.0	unscreened	-	4253_3:178917684-178917684 A>G_PELPKHIYNKLDEGQIIVVIWVIVS
19:52443574-52443574 A>G	1.0	4253	MELANOMA	-	-	-	-	ZNF613	NM_001031721,p.N43S|uc002pxz.2,p.N43S|ENST00000293471,p.N43S|ENST00000600853,p.N43S	protein_coding, processed_transcript	uc002pxz.2	nonsynonymous SNV	exon4	c.A128G	p.N43S	DLYRDVMLENYSNLVSVGYQASKPD	DLYRDVMLENYSSLVSVGYQASKPD	7.0	7.0	-	-	4253_19:52443574-52443574 A>G_DLYRDVMLENYSSLVSVGYQASKPD
1:22211293-22211293 G>A	1.0	4253	MELANOMA	-	-	-	-	HSPG2	NM_001291860,p.P492S|uc009vqd.3,p.P492S	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vqd.3	nonsynonymous SNV	exon12	c.C1474T	p.P492S	EAMNARGMVFGIPDGVLELVPQRAG	EAMNARGMVFGISDGVLELVPQRAG	10.0	4.0	-	-	4253_1:22211293-22211293 G>A_EAMNARGMVFGISDGVLELVPQRAG
17:40864399-40864399 C>T	1.0	4253	MELANOMA	-	-	-	-	EZH1	ENST00000415827,p.A428T|ENST00000592743,p.A437T|uc010cyo.1,p.A100T|uc010wgv.2,p.A397T|uc002iaz.3,p.A437T|uc002iba.3,p.A428T|ENST00000428826,p.A437T|ENST00000590078,p.A367T|uc010wgu.2,p.A443T|NM_001991,p.A437T|ENST00000585893,p.A397T|ENST00000435174,p.A298T|uc010wgt.2,p.A367T|uc010cyr.1,p.A89T|uc010cyq.2,p.A354T|uc010cyp.2,p.A338T|uc010wgw.2,p.A298T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wgw.2	nonsynonymous SNV	exon10	c.G892A	p.A298T	VEAPSEPVEWTGAEESLFRVFHGTY	VEAPSEPVEWTGTEESLFRVFHGTY	8.0	1.0	-	-	4253_17:40864399-40864399 C>T_VEAPSEPVEWTGTEESLFRVFHGTY
20:33147557-33147557 A>G	1.0	4253	MELANOMA	-	-	-	-	MAP1LC3A	NM_181509,p.N78S|uc002xaq.2,p.N74S|uc002xap.2,p.N78S|ENST00000360668,p.N74S|NM_032514,p.N74S|ENST00000374837,p.N78S|ENST00000397709,p.N74S	protein_coding, processed_transcript	uc002xaq.2	nonsynonymous SNV	exon4	c.A221G	p.N74S	ELVKIIRRRLQLNPTQAFFLLVNQH	ELVKIIRRRLQLSPTQAFFLLVNQH	9.0	9.0	-	-	4253_20:33147557-33147557 A>G_ELVKIIRRRLQLSPTQAFFLLVNQH
18:34385423-34385423 G>A	1.0	4253	MELANOMA	-	-	-	-	TPGS2	ENST00000334295,p.S99L|uc031rhy.1,p.S99L|NM_001271954,p.S99L|ENST00000590842,p.S99L|uc002kzy.4,p.S99L|uc031rhv.1,p.S99L|uc031rhx.1,p.S99L|NM_001271956,p.S99L|NM_015476,p.S99L|NM_001271953,p.S99L|uc031rhw.1,p.S99L|NM_001271955,p.S99L|uc031rhz.1,p.S51L|NM_001271952,p.S51L|NM_001271951,p.S99L|uc002kzw.2,p.S99L|ENST00000589049,p.S99L|ENST00000587129,p.S99L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rhz.1	nonsynonymous SNV	exon5	c.C152T	p.S51L	IIPLGSMAINSISKLTQLTQSSMYS	IIPLGSMAINSILKLTQLTQSSMYS	9.0	6.0	-	-	4253_18:34385423-34385423 G>A_IIPLGSMAINSILKLTQLTQSSMYS
2:66666980-66666980 C>T	1.0	4253	MELANOMA	-	-	-	-	MEIS1	NM_002398,p.P82L|ENST00000560281,p.P82L|uc002sdt.3,p.P82L|ENST00000398506,p.P80L|ENST00000488550,p.P82L|ENST00000272369,p.P82L|uc002sdu.3,p.P82L|ENST00000407092,p.P82L|ENST00000444274,p.P50L	retained_intron, protein_coding, processed_transcript	uc002sdu.3	nonsynonymous SNV	exon3	c.C245T	p.P82L	ALKRDKDAIYGHPLFPLLALIFEKC	ALKRDKDAIYGHLLFPLLALIFEKC	7.0	8.0	unscreened	-	4253_2:66666980-66666980 C>T_ALKRDKDAIYGHLLFPLLALIFEKC
7:76058928-76058928 C>T	1.0	4253	MELANOMA	-	-	-	-	ZP3	NM_007155,p.P86S|NM_001110354,p.P137S|uc003ufe.3,p.P45S|ENST00000336517,p.P86S|ENST00000394857,p.P137S|uc003ufc.4,p.P86S|uc003ufd.4,p.P137S	retained_intron, protein_coding, processed_transcript	uc003ufe.3	nonsynonymous SNV	exon1	c.C133T	p.P45S	NLSIVRTNRAEIPIECRYPRQGNVS	NLSIVRTNRAEISIECRYPRQGNVS	8.0	3.0	unscreened	-	4253_7:76058928-76058928 C>T_NLSIVRTNRAEISIECRYPRQGNVS
13:42293860-42293860 G>A	1.0	4253	MELANOMA	-	-	ID=COSM136943;OCCURENCE=1(skin)	-	VWA8	ENST00000379310,p.L995F|NM_001009814,p.L995F|uc001uyk.3,p.L995F|NM_015058,p.L995F|ENST00000281496,p.L995F|uc001uyj.3,p.L995F	protein_coding, processed_transcript	uc001uyk.3	nonsynonymous SNV	exon26	c.C2983T	p.L995F	IVKHLQKFPTEGLSSVVRNVFDFDS	IVKHLQKFPTEGFSSVVRNVFDFDS	6.0	4.0	-	-	4253_13:42293860-42293860 G>A_IVKHLQKFPTEGFSSVVRNVFDFDS
18:21534503-21534503 C>T	1.0	4253	MELANOMA	-	-	-	-	LAMA3	uc002kur.3,p.S3242L|ENST00000399516,p.S3242L|ENST00000269217,p.S1689L|NM_000227,p.S1689L|ENST00000587184,p.S1633L|uc002kus.4,p.S1689L|NM_198129,p.S3298L|uc002kut.4,p.S1633L|NM_001127717,p.S3242L|uc002kuq.3,p.S3298L|ENST00000313654,p.S3298L|NM_001127718,p.S1633L	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc002kut.4	nonsynonymous SNV	exon37	c.C4898T	p.S1633L	ANLTTLRIPVWKSFFGCLRNIHVNH	ANLTTLRIPVWKLFFGCLRNIHVNH	6.0	5.0	unscreened	-	4253_18:21534503-21534503 C>T_ANLTTLRIPVWKLFFGCLRNIHVNH
2:66666980-66666980 C>T	1.0	4253	MELANOMA	-	-	-	-	MEIS1	ENST00000495021,p.P17L|uc010yqi.2,p.P17L	retained_intron, protein_coding, processed_transcript	uc010yqi.2	nonsynonymous SNV	exon2	c.C50T	p.P17L	LRLQGSRRKGRHPLFPLLALIFEKC	LRLQGSRRKGRHLLFPLLALIFEKC	7.0	8.0	-	-	4253_2:66666980-66666980 C>T_LRLQGSRRKGRHLLFPLLALIFEKC
1:55643730-55643730 G>A	1.0	4253	MELANOMA	-	-	-	-	USP24	NM_015306,p.R134C|ENST00000294383,p.R134C|uc021onw.1,p.R134C	retained_intron, protein_coding, processed_transcript	uc021onw.1	nonsynonymous SNV	exon2	c.C400T	p.R134C	EFPTTNLYELESRVLTDHWSIPYKR	EFPTTNLYELESCVLTDHWSIPYKR	8.0	5.0	-	-	4253_1:55643730-55643730 G>A_EFPTTNLYELESCVLTDHWSIPYKR
8:19362901-19362901 C>T	1.0	4253	MELANOMA	-	-	-	-	CSGALNACT1	ENST00000397998,p.D149N|uc011kyp.2,p.D149N|ENST00000522854,p.D149N|uc011kyn.2,p.D149N|NM_001130518,p.D149N|uc011kyo.2,p.D149N|ENST00000544602,p.D149N|NM_018371,p.D149N|ENST00000332246,p.D149N|ENST00000311540,p.D149N|ENST00000454498,p.D149N|ENST00000519222,p.D149N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kyp.2	nonsynonymous SNV	exon3	c.G445A	p.D149N	VKLATEYAAVPFDSFTLQKVYQLET	VKLATEYAAVPFNSFTLQKVYQLET	8.0	7.0	-	-	4253_8:19362901-19362901 C>T_VKLATEYAAVPFNSFTLQKVYQLET
7:1536779-1536779 A>G	1.0	4253	MELANOMA	-	-	-	-	INTS1	ENST00000404767,p.F533L|uc003skn.2,p.F533L|ENST00000389470,p.F661L|NM_001080453,p.F533L	retained_intron, protein_coding, processed_transcript	uc003skn.2	nonsynonymous SNV	exon11	c.T1597C	p.F533L	QERKEPQYLEMEFKERFVVHITDVL	QERKEPQYLEMELKERFVVHITDVL	10.0	10.0	-	-	4253_7:1536779-1536779 A>G_QERKEPQYLEMELKERFVVHITDVL
9:14806806-14806806 G>A	1.0	4253	MELANOMA	-	-	-	-	FREM1	ENST00000380881,p.L1044F|ENST00000422223,p.L1043F|uc003zlm.3,p.L1043F|NM_144966,p.L1043F|ENST00000380875,p.L1043F|ENST00000380880,p.L1043F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zlm.3	nonsynonymous SNV	exon19	c.C3127T	p.L1043F	PVFVVDEGCSTALTVNHLSATDPDT	PVFVVDEGCSTAFTVNHLSATDPDT	9.0	10.0	unscreened	-	4253_9:14806806-14806806 G>A_PVFVVDEGCSTAFTVNHLSATDPDT
15:64067576-64067576 G>A	1.0	4253	MELANOMA	-	-	-	-	HERC1	ENST00000560462,p.L83F|uc010uil.1,p.L83F|uc002amp.3,p.L83F|uc010bgt.1,p.L83F|uc002amq.1,p.L83F|ENST00000558532,p.L83F|ENST00000443617,p.L83F|ENST00000561400,p.L83F|NM_003922,p.L83F	retained_intron, protein_coding, nonsense_mediated_decay	uc010uil.1	nonsynonymous SNV	exon2	c.C247T	p.L83F	SSDEQDHYLDALLSSQLALAKMVCS	SSDEQDHYLDALFSSQLALAKMVCS	8.0	10.0	-	-	4253_15:64067576-64067576 G>A_SSDEQDHYLDALFSSQLALAKMVCS
16:78198112-78198112 G>A	1.0	4253	MELANOMA	-	-	-	-	WWOX	ENST00000408984,p.G148S|NM_016373,p.G148S|uc010vnk.2,p.G35S|NM_001291997,p.G35S|uc002ffk.3,p.G148S|NM_130791,p.G148S|ENST00000355860,p.G148S|ENST00000406884,p.G148S|uc002ffj.2,p.G148S|uc002ffl.3,p.G148S|ENST00000566780,p.G148S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010vnk.2	nonsynonymous SNV	exon4	c.G103A	p.G35S	IGFETAKSFALHGAHVILACRNMAR	IGFETAKSFALHSAHVILACRNMAR	9.0	1.0	-	-	4253_16:78198112-78198112 G>A_IGFETAKSFALHSAHVILACRNMAR
10:127442366-127442366 T>A	1.0	4253	MELANOMA	-	-	-	-	EDRF1	uc001lip.1,p.L870H|ENST00000356792,p.L1166H|uc001lis.1,p.L492H|uc001lio.1,p.L1132H|NM_015608,p.L1132H|ENST00000337623,p.L1132H|uc001lit.1,p.L76H|uc001liq.1,p.L1166H|NM_001202438,p.L1166H	retained_intron, protein_coding, nonsense_mediated_decay	uc001lit.1	nonsynonymous SNV	exon3	c.T227A	p.L76H	KLLSIFESRLSFLLLQSIKLLSSTK	KLLSIFESRLSFHLLQSIKLLSSTK	8.0	10.0	unscreened	-	4253_10:127442366-127442366 T>A_KLLSIFESRLSFHLLQSIKLLSSTK
19:56379205-56379205 G>A	1.0	4253	MELANOMA	-	-	-	-	NLRP4	ENST00000301295,p.A773T|NM_134444,p.A773T|ENST00000587891,p.A698T|uc002qmf.3,p.A698T|uc002qmd.4,p.A773T	protein_coding	uc002qmf.3	nonsynonymous SNV	exon4	c.G2092A	p.A698T	NQLDTGVPLLCEALCSPDTVLVYLM	NQLDTGVPLLCETLCSPDTVLVYLM	6.0	2.0	unscreened	-	4253_19:56379205-56379205 G>A_NQLDTGVPLLCETLCSPDTVLVYLM
15:45361114-45361114 G>A	1.0	4253	MELANOMA	-	-	-	-	SORD	ENST00000558580,p.G196E|NM_003104,p.G217E|uc001zul.4,p.G217E|ENST00000267814,p.G217E|uc010bdz.3,p.G138E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bdz.3	nonsynonymous SNV	exon7	c.G413A	p.G138E	LSATRLSKAKEIGADLVLQISKESP	LSATRLSKAKEIEADLVLQISKESP	7.0	8.0	unscreened	-	4253_15:45361114-45361114 G>A_LSATRLSKAKEIEADLVLQISKESP
5:176829691-176829691 C>T	1.0	4253	MELANOMA	-	-	-	-	F12	NM_000505,p.E514K|ENST00000253496,p.E514K|uc003mgo.4,p.E514K	retained_intron, protein_coding, processed_transcript	uc003mgo.4	nonsynonymous SNV	exon13	c.G1540A	p.E514K	VAGWGHQFEGAEEYASFLQEAQVPF	VAGWGHQFEGAEKYASFLQEAQVPF	7.0	7.0	unscreened	-	4253_5:176829691-176829691 C>T_VAGWGHQFEGAEKYASFLQEAQVPF
20:35433142-35433142 G>A	1.0	4253	MELANOMA	-	-	-	-	SOGA1	uc021wcx.1,p.S1028F|ENST00000357779,p.S790F|NM_080627,p.S1028F|ENST00000456801,p.S631F|uc002xgd.1,p.S790F|ENST00000237536,p.S1028F|ENST00000279034,p.S790F|NM_199181,p.S790F	retained_intron, protein_coding, nonsense_mediated_decay	uc021wcx.1	nonsynonymous SNV	exon10	c.C3083T	p.S1028F	WETERAELKGHTSQMELKTGKGAGE	WETERAELKGHTFQMELKTGKGAGE	8.0	8.0	unscreened	-	4253_20:35433142-35433142 G>A_WETERAELKGHTFQMELKTGKGAGE
16:2258861-2258861 G>T	1.0	4253	MELANOMA	-	-	-	-	MLST8	uc002cpf.3,p.D322Y|uc002coz.3,p.D322Y|ENST00000397124,p.D322Y|uc002cpc.3,p.D322Y|uc002cpb.3,p.D321Y|uc010uvx.2,p.D256Y|uc002cpe.3,p.D322Y|NM_001199174,p.D322Y|ENST00000569417,p.D322Y|ENST00000564088,p.D322Y|uc002cpd.3,p.D256Y|ENST00000565250,p.D322Y|ENST00000382450,p.D321Y|NM_022372,p.D322Y|NM_001199175,p.D321Y|NM_001199173,p.D322Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uvx.2	nonsynonymous SNV	exon8	c.G766T	p.D256Y	GHQKAVVCLAFNDSVLG	GHQKAVVCLAFNYSVLG	9.0	9.0	unscreened	-	4253_16:2258861-2258861 G>T_GHQKAVVCLAFNYSVLG
8:48752662-48752662 G>A	1.0	4253	MELANOMA	-	-	-	-	PRKDC	ENST00000338368,p.P2456S|ENST00000314191,p.P2456S	retained_intron, protein_coding, processed_transcript	ENST00000338368	nonsynonymous SNV	exon56	c.C7366T	p.P2456S	KLKPVELRELLNPVVEFVSHPSTTC	KLKPVELRELLNSVVEFVSHPSTTC	8.0	6.0	unscreened	-	4253_8:48752662-48752662 G>A_KLKPVELRELLNSVVEFVSHPSTTC
7:129357144-129357144 C>T	1.0	4253	MELANOMA	-	-	-	-	NRF1	uc003vpb.3,p.S384L|NM_001293163,p.S384L|ENST00000393231,p.S384L|uc011kpa.2,p.S223L|ENST00000353868,p.S318L|ENST00000539636,p.S223L|ENST00000393232,p.S384L|NM_001293164,p.S223L|ENST00000311967,p.S384L|uc003vpa.3,p.S384L|ENST00000223190,p.S384L|ENST00000393230,p.S384L|uc003voz.3,p.S384L|NM_001040110,p.S384L|NM_005011,p.S384L	protein_coding, processed_transcript	uc011kpa.2	nonsynonymous SNV	exon8	c.C668T	p.S223L	TTQASEATQAVASLAEAAVAASQEM	TTQASEATQAVALLAEAAVAASQEM	7.0	4.0	unscreened	-	4253_7:129357144-129357144 C>T_TTQASEATQAVALLAEAAVAASQEM
7:20431099-20431099 G>A	1.0	4253	MELANOMA	-	-	-	-	ITGB8	NM_002214,p.G345E|ENST00000537992,p.G210E|uc011jyh.2,p.G210E|uc003suu.3,p.G345E|ENST00000222573,p.G345E|uc003sut.3,p.G345E	retained_intron, protein_coding, processed_transcript	uc011jyh.2	nonsynonymous SNV	exon8	c.G629A	p.G210E	IDNNINVIFAVQGKQFHWYKDLLPL	IDNNINVIFAVQEKQFHWYKDLLPL	6.0	10.0	unscreened	-	4253_7:20431099-20431099 G>A_IDNNINVIFAVQEKQFHWYKDLLPL
11:1780249-1780249 G>A	1.0	4253	MELANOMA	-	-	-	-	CTSD	ENST00000367196,p.H106Y|uc001luc.2,p.H141Y|ENST00000438213,p.H126Y|ENST00000236671,p.H141Y|ENST00000433655,p.H141Y|NM_001909,p.H141Y	 protein_coding, nonsense_mediated_decay,retained_intron	uc001luc.2	nonsynonymous SNV	exon4	c.C421T	p.H141Y	STYVKNGTSFDIHYGSGSLSGYLSQ	STYVKNGTSFDIYYGSGSLSGYLSQ	10.0	3.0	-	-	4253_11:1780249-1780249 G>A_STYVKNGTSFDIYYGSGSLSGYLSQ
3:93615439-93615439 G>A	1.0	4253	MELANOMA	-	-	ID=COSM731445;OCCURENCE=1(lung),1(skin)	-	PROS1	uc003dqz.4,p.R185C|uc010hoo.3,p.R185C|ENST00000394236,p.R316C|ENST00000407433,p.R185C|NM_000313,p.R316C|uc003drb.4,p.R316C	retained_intron, protein_coding	uc010hoo.3	nonsynonymous SNV	exon8	c.C553T	p.R185C	EQFAGVVLYLKFRLPEISRFSAEFD	EQFAGVVLYLKFCLPEISRFSAEFD	8.0	2.0	unscreened	-	4253_3:93615439-93615439 G>A_EQFAGVVLYLKFCLPEISRFSAEFD
18:67508495-67508495 C>T	1.0	4253	MELANOMA	0.0046	-	-	-	DOK6	uc002lkl.3,p.S291L|NM_152721,p.S291L|ENST00000382713,p.S291L	protein_coding, processed_transcript	uc002lkl.3	nonsynonymous SNV	exon8	c.C872T	p.S291L	GEIYSLQGHGFGSSKMSRAQTFPSY	GEIYSLQGHGFGLSKMSRAQTFPSY	6.0	2.0	unscreened	-	4253_18:67508495-67508495 C>T_GEIYSLQGHGFGLSKMSRAQTFPSY
8:120855049-120855049 G>A	1.0	4253	MELANOMA	-	-	-	-	DSCC1	ENST00000313655,p.L246F|NM_024094,p.L246F|uc003yov.3,p.L246F	retained_intron, protein_coding	uc003yov.3	nonsynonymous SNV	exon6	c.C736T	p.L246F	GPLEPEEMIEHCLKCYGKKYVDEGE	GPLEPEEMIEHCFKCYGKKYVDEGE	6.0	4.0	unscreened	-	4253_8:120855049-120855049 G>A_GPLEPEEMIEHCFKCYGKKYVDEGE
X:150791474-150791474 C>T	1.0	4253	MELANOMA	-	-	-	-	PASD1	ENST00000370357,p.P162S|NM_173493,p.P162S|uc004fev.4,p.P162S	retained_intron, protein_coding	uc004fev.4	nonsynonymous SNV	exon7	c.C484T	p.P162S	SSHLCADFAACVPQEDRLYLVGNVC	SSHLCADFAACVSQEDRLYLVGNVC	8.0	10.0	unscreened	-	4253_X:150791474-150791474 C>T_SSHLCADFAACVSQEDRLYLVGNVC
11:294383-294383 C>T	1.0	4253	MELANOMA	-	-	-	-	ATHL1	ENST00000409479,p.S669F|NM_025092,p.S642F|uc001lov.4,p.S103F|uc001lou.4,p.S217F|ENST00000409655,p.S394F|uc010qvu.2,p.S642F|ENST00000409548,p.S642F|uc001lor.4,p.S394F	retained_intron, protein_coding, nonsense_mediated_decay	uc010qvu.2	nonsynonymous SNV	exon13	c.C1925T	p.S642F	QGNKLNFSFSEDSVTVEVTARAGPW	QGNKLNFSFSEDFVTVEVTARAGPW	8.0	3.0	unscreened	-	4253_11:294383-294383 C>T_QGNKLNFSFSEDFVTVEVTARAGPW
9:123675653-123675653 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1701644;OCCURENCE=1(skin)	-	TRAF1	uc011lyg.2,p.H98Y|NM_001190945,p.H220Y|NM_001190947,p.H98Y|ENST00000546084,p.H98Y|uc004bku.2,p.H220Y|ENST00000373887,p.H220Y|NM_005658,p.H220Y|ENST00000540010,p.H220Y|uc010mvl.2,p.H220Y	protein_coding	uc011lyg.2	nonsynonymous SNV	exon3	c.C292T	p.H98Y	VEASHLALATSIHQSQLDRERILSL	VEASHLALATSIYQSQLDRERILSL	7.0	10.0	unscreened	-	4253_9:123675653-123675653 G>A_VEASHLALATSIYQSQLDRERILSL
5:94901805-94901805 C>T	1.0	4253	MELANOMA	-	-	-	-	ARSK	ENST00000512106,p.S51F	protein_coding, nonsense_mediated_decay	ENST00000512106	nonsynonymous SNV	exon2	c.C152T	p.S51F	TRGTSFLNAYTNSPICCPSRAVIVW	TRGTSFLNAYTNFPICCPSRAVIVW	7.0	4.0	-	-	4253_5:94901805-94901805 C>T_TRGTSFLNAYTNFPICCPSRAVIVW
17:47579525-47579525 C>T	1.0	4253	MELANOMA	-	-	-	-	NGFR	uc002ioz.4,p.P56L|NM_002507,p.P56L|ENST00000172229,p.P56L	protein_coding	uc002ioz.4	nonsynonymous SNV	exon2	c.C167T	p.P56L	CKACNLGEGVAQPCGANQTVCEPCL	CKACNLGEGVAQLCGANQTVCEPCL	10.0	5.0	unscreened	-	4253_17:47579525-47579525 C>T_CKACNLGEGVAQLCGANQTVCEPCL
16:53319551-53319551 C>T	1.0	4253	MELANOMA	-	-	-	-	CHD9	ENST00000447540,p.P1671S|uc010cbw.3,p.P39S|uc002ehf.3,p.P785S|uc002ehc.3,p.P1671S|uc002ehb.3,p.P1671S|uc002ehg.2,p.P785S|uc002egy.3,p.P1671S|ENST00000398510,p.P1671S|ENST00000564845,p.P1671S|NM_025134,p.P1671S|ENST00000566029,p.P1671S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cbw.3	nonsynonymous SNV	exon5	c.C115T	p.P39S	DVWVPEPDHSEVPAEWWDFDADKSL	DVWVPEPDHSEVSAEWWDFDADKSL	10.0	6.0	unscreened	-	4253_16:53319551-53319551 C>T_DVWVPEPDHSEVSAEWWDFDADKSL
5:94901805-94901805 C>T	1.0	4253	MELANOMA	-	-	-	-	ARSK	NM_198150,p.S77F|ENST00000504873,p.S77F|ENST00000380009,p.S77F|uc003kld.3,p.S77F|ENST00000513814,p.S77F	protein_coding, nonsense_mediated_decay	uc003kld.3	nonsynonymous SNV	exon2	c.C230T	p.S77F	TRGTSFLNAYTNSPICCPSRAAMWS	TRGTSFLNAYTNFPICCPSRAAMWS	7.0	4.0	-	-	4253_5:94901805-94901805 C>T_TRGTSFLNAYTNFPICCPSRAAMWS
16:90001587-90001587 C>T	1.0	4253	MELANOMA	-	-	ID=COSM1563434;OCCURENCE=1(large_intestine)	-	TUBB3	uc010ciz.1,p.P171L|NM_001197181,p.P171L|uc002fpf.2,p.P590L|uc002fpj.1,p.P171L|ENST00000315491,p.P243L|uc002fph.2,p.P243L|uc002fpk.1,p.P97L|NM_006086,p.P243L|ENST00000556922,p.P590L|ENST00000304984,p.P171L|ENST00000554444,p.P171L|ENST00000555810,p.P171L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ciz.1	nonsynonymous SNV	exon4	c.C512T	p.P171L	ATMSGVTTSLRFPGQLNADLRKLAV	ATMSGVTTSLRFLGQLNADLRKLAV	10.0	5.0	unscreened	-	4253_16:90001587-90001587 C>T_ATMSGVTTSLRFLGQLNADLRKLAV
6:348772-348772 C>T	1.0	4253	MELANOMA	-	-	-	-	DUSP22	ENST00000419235,p.R147W|uc003msy.1,p.R104W|ENST00000603453,p.R44W|ENST00000344450,p.R147W|ENST00000605315,p.R44W|ENST00000604971,p.R44W|NM_001286555,p.R147W|uc011dhn.1,p.R147W|uc003msx.3,p.R147W|NM_020185,p.R147W	protein_coding	uc011dhn.1	nonsynonymous SNV	exon7	c.C439T	p.R147W	LQEFEKHEVHQYRQWLKEEYGESPL	LQEFEKHEVHQYWQWLKEEYGESPL	10.0	1.0	unscreened	-	4253_6:348772-348772 C>T_LQEFEKHEVHQYWQWLKEEYGESPL
5:157158581-157158581 G>A	1.0	4253	MELANOMA	-	-	-	-	THG1L	NM_017872,p.D45N|uc003lxd.3,p.D45N|ENST00000231198,p.D45N|ENST00000521655,p.D45N	protein_coding, nonsense_mediated_decay	uc003lxd.3	nonsynonymous SNV	exon1	c.G133A	p.D45N	SKFEYVRDFEADDTCLAHCWVVVRL	SKFEYVRDFEADNTCLAHCWVVVRL	9.0	7.0	unscreened	-	4253_5:157158581-157158581 G>A_SKFEYVRDFEADNTCLAHCWVVVRL
10:102766543-102766543 C>T	1.0	4253	MELANOMA	-	-	-	-	LZTS2	ENST00000370220,p.P543L|ENST00000370223,p.P543L|uc010qpw.2,p.P543L|uc001ksj.3,p.P543L|NM_032429,p.P543L|uc001ksk.3,p.P543L|uc001ksl.3,p.P543L	protein_coding, processed_transcript	uc010qpw.2	nonsynonymous SNV	exon5	c.C1628T	p.P543L	DAEAAGLREPPVPPATADPFLLAES	DAEAAGLREPPVLPATADPFLLAES	9.0	10.0	unscreened	-	4253_10:102766543-102766543 C>T_DAEAAGLREPPVLPATADPFLLAES
19:6007059-6007059 C>T	1.0	4253	MELANOMA	-	-	-	-	RFX2	uc002mec.3,p.E431K|NM_000635,p.E456K|uc002meb.3,p.E456K|NM_134433,p.E431K|ENST00000592546,p.E431K|ENST00000303657,p.E456K|ENST00000359161,p.E456K	retained_intron, protein_coding, processed_transcript	uc002mec.3	nonsynonymous SNV	exon11	c.G1291A	p.E431K	RSCDHILYQALVEILIPDVLRPVPS	RSCDHILYQALVKILIPDVLRPVPS	8.0	3.0	unscreened	-	4253_19:6007059-6007059 C>T_RSCDHILYQALVKILIPDVLRPVPS
3:13612609-13612609 C>T	1.0	4253	MELANOMA	-	-	-	2	FBLN2	uc011auz.2,p.P278S|NM_001165035,p.P252S|ENST00000535798,p.P278S|ENST00000404922,p.P252S|ENST00000492059,p.P252S|NM_001998,p.P252S|NM_001004019,p.P252S|ENST00000295760,p.P252S|uc011avb.2,p.P252S|uc011avc.2,p.P252S|uc011ava.2,p.P252S	retained_intron, protein_coding	uc011avc.2	nonsynonymous SNV	exon2	c.C754T	p.P252S	STIQAPPWPAVLPRPTAAAALGPPA	STIQAPPWPAVLSRPTAAAALGPPA	9.0	10.0	-	-	4253_3:13612609-13612609 C>T_STIQAPPWPAVLSRPTAAAALGPPA
15:85656629-85656629 C>T	1.0	4253	MELANOMA	-	-	-	-	PDE8A	NM_001243137,p.S307F|ENST00000339708,p.S333F|NM_173454,p.S333F|uc010bnc.3,p.S132F|uc021stv.1,p.S307F|uc002bli.3,p.S333F|NM_002605,p.S379F|ENST00000557957,p.S307F|ENST00000310298,p.S379F|uc002blh.3,p.S379F|uc010bnd.3,p.S132F|ENST00000394553,p.S379F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021stv.1	nonsynonymous SNV	exon13	c.C920T	p.S307F	SRATEVSSQRRHSSMARIHSMTIEA	SRATEVSSQRRHFSMARIHSMTIEA	9.0	3.0	-	-	4253_15:85656629-85656629 C>T_SRATEVSSQRRHFSMARIHSMTIEA
7:24747855-24747855 C>T	1.0	4253	MELANOMA	-	-	-	-	DFNA5	NM_004403,p.R294K|uc010kut.1,p.R130K|uc010kus.1,p.R294K|NM_001127454,p.R130K|ENST00000545231,p.R130K|ENST00000409775,p.R294K|ENST00000409970,p.R130K|NM_001127453,p.R294K|uc003sxa.1,p.R294K|ENST00000342947,p.R294K|ENST00000419307,p.R130K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kut.1	nonsynonymous SNV	exon6	c.G389A	p.R130K	LSVLKQATLLLERNFHPFAELPEPQ	LSVLKQATLLLEKNFHPFAELPEPQ	8.0	9.0	unscreened	-	4253_7:24747855-24747855 C>T_LSVLKQATLLLEKNFHPFAELPEPQ
3:137729279-137729279 G>A	1.0	4253	MELANOMA	-	-	-	-	CLDN18	ENST00000183605,p.G71E|uc003erp.1,p.G71E|ENST00000479660,p.G71E|NM_016369,p.G71E	protein_coding, nonsense_mediated_decay	uc003erp.1	nonsynonymous SNV	exon1	c.G212A	p.G71E	GFTECRPYFTILGLPAMLQAVRALM	GFTECRPYFTILELPAMLQAVRALM	6.0	10.0	-	-	4253_3:137729279-137729279 G>A_GFTECRPYFTILELPAMLQAVRALM
X:100615697-100615697 G>A	1.0	4253	MELANOMA	-	-	-	1	BTK	uc010nno.2,p.S246F|NM_001287345,p.S212F|ENST00000308731,p.S212F|NM_000061,p.S212F|uc004ehi.3,p.S212F|uc010nnn.2,p.S212F|uc004ehg.2,p.S212F|NM_001287344,p.S246F|ENST00000372880,p.S212F	protein_coding, processed_transcript	uc010nno.2	nonsynonymous SNV	exon8	c.C737T	p.S246F	KPLPPEPAAAPVSTSELKKVVALYD	KPLPPEPAAAPVFTSELKKVVALYD	7.0	10.0	unscreened	-	4253_X:100615697-100615697 G>A_KPLPPEPAAAPVFTSELKKVVALYD
14:102717291-102717291 G>-	1.0	4253	MELANOMA	-	-	-	-	MOK	uc010txv.3,p.R120fs|ENST00000361847,p.R150fs|ENST00000524214,p.R120fs|uc001ylm.4,p.R150fs|NM_001272011,p.R120fs|NM_014226,p.R150fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010txv.3	frameshift deletion	exon6	c.358delC	p.R120fs	QDVLKLGDFGSCRSVYSKQPYTEYI	QDVLKLGDFGSCGVSIPSSRTRNTSPPAGTGPRSVSSLMGSTRTRWTCGAPAVCSTRSPVCSPSFLE	10.0	9.0	-	-	4253_14:102717291-102717291 G>-_QDVLKLGDFGSCGVSIPSSRTRNTSPPAGTGPRSVSSLMGSTRTRWTCGAPAVCSTRSPVCSPSFLE
14:102717291-102717291 G>-	1.0	4253	MELANOMA	-	-	-	-	MOK	ENST00000522874,p.R149fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000522874	frameshift deletion	exon7	c.445delC	p.R149fs	KDVLKLGDFGSCRSVYSKQPYTEYI	KDVLKLGDFGSCGVSIPSSRTRNTSPPAGTGPRSVSSLMGSTRTRWTCGAPAVCSTRSPVCSPSFLE	10.0	9.0	unscreened	-	4253_14:102717291-102717291 G>-_KDVLKLGDFGSCGVSIPSSRTRNTSPPAGTGPRSVSSLMGSTRTRWTCGAPAVCSTRSPVCSPSFLE
17:7577539-7577539 G>A	1.0	4253	MELANOMA	-	-	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	ENST00000413465,p.R248W|NM_001276761,p.R209W|uc010cng.2,p.R89W|ENST00000420246,p.R248W|NM_001276698,p.R89W|uc002gij.3,p.R209W|NM_001276695,p.R209W|uc031qyq.1,p.R209W|NM_001126114,p.R248W|NM_000546,p.R248W|ENST00000445888,p.R248W|uc002gii.2,p.R89W|ENST00000269305,p.R248W|NM_001126116,p.R116W|NM_001126112,p.R248W|uc002gio.3,p.R116W|NM_001276696,p.R209W|NM_001126118,p.R209W|ENST00000509690,p.R116W|NM_001126115,p.R116W|uc010cnf.2,p.R89W|ENST00000359597,p.R248W|NM_001276699,p.R89W|ENST00000455263,p.R248W|NM_001126113,p.R248W|uc002gin.3,p.R155W|NM_001276760,p.R209W|uc002gig.1,p.R248W|uc002gih.3,p.R248W|NM_001126117,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	1.0	unscreened	-	4253_17:7577539-7577539 G>A_YMCNSSCMGGMNWRPILTIITLEDS
12:7586120-7586120 G>A	0.0	4253	MELANOMA	-	-	-	-	CD163L1	NM_174941,p.R99C|uc010sge.2,p.R99C|ENST00000313599,p.R99C|ENST00000396630,p.R99C|NM_001297650,p.R99C|ENST00000416109,p.R99C|uc001qsy.3,p.R99C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sge.2	nonsynonymous SNV	exon3	c.C295T	p.R99C	KQLGCPFSFAMFRFGQAVTRHGKIW	KQLGCPFSFAMFCFGQAVTRHGKIW	8.0	8.0	-	-	4253_12:7586120-7586120 G>A_KQLGCPFSFAMFCFGQAVTRHGKIW
18:6244493-6244493 G>A	1.0	4253	MELANOMA	-	-	-	-	L3MBTL4	uc010dkt.3,p.S105F|ENST00000400104,p.S105F|uc002kmy.4,p.S105F|uc002kmz.4,p.S105F|NM_173464,p.S105F|ENST00000317931,p.S105F|ENST00000583809,p.S105F|ENST00000284898,p.S105F|ENST00000583054,p.S105F|ENST00000400105,p.S105F	protein_coding, processed_transcript	uc010dkt.3	nonsynonymous SNV	exon6	c.C314T	p.S105F	IDPRHPSVFCVLSVAEVCGYRLRLH	IDPRHPSVFCVLFVAEVCGYRLRLH	7.0	5.0	unscreened	-	4253_18:6244493-6244493 G>A_IDPRHPSVFCVLFVAEVCGYRLRLH
1:52704015-52704015 C>T	1.0	4253	MELANOMA	-	-	-	-	ZFYVE9	ENST00000357206,p.S309F|NM_004799,p.S309F|ENST00000361625,p.S309F|ENST00000287727,p.S309F|NM_007324,p.S309F|uc001ctp.4,p.S309F|uc001cto.4,p.S309F|ENST00000371591,p.S309F|uc001ctn.4,p.S309F	protein_coding, processed_transcript	uc001ctp.4	nonsynonymous SNV	exon4	c.C926T	p.S309F	ISSPRTDLGSPNSFSHMSEGILMKK	ISSPRTDLGSPNFFSHMSEGILMKK	7.0	5.0	unscreened	-	4253_1:52704015-52704015 C>T_ISSPRTDLGSPNFFSHMSEGILMKK
19:18649224-18649224 G>A	1.0	4253	MELANOMA	-	-	-	-	FKBP8	ENST00000597960,p.H192Y|NM_012181,p.H192Y|ENST00000222308,p.H192Y|ENST00000597611,p.H192Y|uc002njj.1,p.H192Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002njj.1	nonsynonymous SNV	exon5	c.C574T	p.H192Y	GPQGSRSPYIPPHAALCLEVTLKTA	GPQGSRSPYIPPYAALCLEVTLKTA	10.0	2.0	-	-	4253_19:18649224-18649224 G>A_GPQGSRSPYIPPYAALCLEVTLKTA
19:18649224-18649224 G>A	1.0	4253	MELANOMA	-	-	-	-	FKBP8	uc002njk.1,p.H191Y|uc010xqi.1,p.H220Y|ENST00000453489,p.H220Y|ENST00000596558,p.H191Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xqi.1	nonsynonymous SNV	exon5	c.C658T	p.H220Y	YGPQGRSPYIPPHAALCLEVTLKTA	YGPQGRSPYIPPYAALCLEVTLKTA	10.0	2.0	-	-	4253_19:18649224-18649224 G>A_YGPQGRSPYIPPYAALCLEVTLKTA
12:113874594-113874594 G>-	1.0	4253	MELANOMA	-	-	-	-	SDSL	ENST00000345635,p.R237fs|uc009zwh.3,p.R237fs|uc001tvi.3,p.R237fs|ENST00000551760,p.R30fs|ENST00000403593,p.R237fs|NM_138432,p.R237fs	protein_coding	uc009zwh.3	frameshift deletion	exon7	c.710delG	p.R237fs	VAKSLGAKTVAARALECMQVCKIHS	VAKSLGAKTVAARPWSACRCARFTLKWWRTPRL	9.0	3.0	unscreened	-	4253_12:113874594-113874594 G>-_VAKSLGAKTVAARPWSACRCARFTLKWWRTPRL
3:50602937-50602937 G>A	0.0	4253	MELANOMA	-	-	-	-	C3orf18	uc003dat.3,p.S65F|uc003dar.3,p.S65F|NM_016210,p.S65F|NM_001171741,p.S65F|NM_001171740,p.S65F|ENST00000430746,p.S65F|ENST00000357203,p.S65F|ENST00000426034,p.S65F|ENST00000449241,p.S65F|uc003das.3,p.S65F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003dat.3	nonsynonymous SNV	exon2	c.C194T	p.S65F	AGGTAGVGTMLLSFGIITVIGLAVA	AGGTAGVGTMLLFFGIITVIGLAVA	6.0	1.0	unscreened	-	4253_3:50602937-50602937 G>A_AGGTAGVGTMLLFFGIITVIGLAVA
12:132237770-132237770 C>T	1.0	4253	MELANOMA	-	-	-	-	SFSWAP	uc001ujb.1,p.T188I|NM_004592,p.T395I|ENST00000535236,p.T188I|ENST00000261674,p.T395I|uc010tbn.2,p.T395I|uc001uiz.2,p.T269I|ENST00000541286,p.T395I|uc001uja.2,p.T395I|NM_001261411,p.T395I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tbn.2	nonsynonymous SNV	exon8	c.C1184T	p.T395I	PPPGIDVTTYYSTLPAGVTVSNSPG	PPPGIDVTTYYSILPAGVTVSNSPG	10.0	6.0	unscreened	-	4253_12:132237770-132237770 C>T_PPPGIDVTTYYSILPAGVTVSNSPG
14:105932844-105932844 C>T	1.0	4253	MELANOMA	-	-	ID=COSM1707921;OCCURENCE=1(skin)	-	MTA1	uc001yrb.3,p.A330V|ENST00000435036,p.A105V|uc021seq.1,p.A569V|ENST00000434050,p.A361V|uc001yqx.3,p.A569V|ENST00000406191,p.A569V|NM_004689,p.A569V|ENST00000405646,p.A552V|ENST00000331320,p.A569V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021seq.1	nonsynonymous SNV	exon17	c.C1706T	p.A569V	SSVLSSLTPAKVAPVINNGSPTILG	SSVLSSLTPAKVVPVINNGSPTILG	10.0	2.0	-	-	4253_14:105932844-105932844 C>T_SSVLSSLTPAKVVPVINNGSPTILG
19:3544840-3544840 T>C	1.0	4253	MELANOMA	-	-	-	-	MFSD12	ENST00000398558,p.S463G|uc002lxw.3,p.S463G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lxw.3	nonsynonymous SNV	exon9	c.A1387G	p.S463G	GGVGVAAALCLCSLLLWPTRLRRSF	GGVGVAAALCLCGLLLWPTRLRRSF	10.0	10.0	unscreened	-	4253_19:3544840-3544840 T>C_GGVGVAAALCLCGLLLWPTRLRRSF
18:74092011-74092011 G>A	1.0	4253	MELANOMA	-	-	-	-	ZNF516	NM_014643,p.P687S|ENST00000443185,p.P687S|uc021ulp.1,p.P687S	protein_coding, processed_transcript	uc021ulp.1	nonsynonymous SNV	exon4	c.C2059T	p.P687S	MPAFHPKQEVPVPGDGVEFPSSTGA	MPAFHPKQEVPVSGDGVEFPSSTGA	9.0	3.0	unscreened	-	4253_18:74092011-74092011 G>A_MPAFHPKQEVPVSGDGVEFPSSTGA
16:67976619-67976619 C>T	1.0	4253	MELANOMA	-	-	-	-	LCAT	ENST00000264005,p.D160N|NM_000229,p.D160N|uc002euy.1,p.D160N|ENST00000573538,p.D41N|ENST00000570980,p.D88N	retained_intron, protein_coding, nonsense_mediated_decay	uc002euy.1	nonsynonymous SNV	exon4	c.G478A	p.D160N	LVQNLVNNGYVRDETVRAAPYDWRL	LVQNLVNNGYVRNETVRAAPYDWRL	10.0	7.0	-	-	4253_16:67976619-67976619 C>T_LVQNLVNNGYVRNETVRAAPYDWRL
19:3544840-3544840 T>C	1.0	4253	MELANOMA	-	-	-	-	MFSD12	ENST00000589063,p.S142G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000589063	nonsynonymous SNV	exon4	c.A424G	p.S142G	GGVGVAAALCLCSLLLWPTRLRRCE	GGVGVAAALCLCGLLLWPTRLRRCE	10.0	10.0	unscreened	-	4253_19:3544840-3544840 T>C_GGVGVAAALCLCGLLLWPTRLRRCE
19:3544840-3544840 T>C	1.0	4253	MELANOMA	-	-	-	-	MFSD12	uc002lxy.3,p.S454G|NM_001287529,p.S454G|uc002lxz.3,p.S463G|ENST00000588918,p.S454G|ENST00000355415,p.S463G|NM_174983,p.S463G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lxz.3	nonsynonymous SNV	exon9	c.A1387G	p.S463G	GGVGVAAALCLCSLLLWPTRLRRWD	GGVGVAAALCLCGLLLWPTRLRRWD	10.0	10.0	unscreened	-	4253_19:3544840-3544840 T>C_GGVGVAAALCLCGLLLWPTRLRRWD
19:40520228-40520228 C>T	1.0	4253	MELANOMA	-	-	-	-	ZNF546	ENST00000600094,p.H325Y|NM_001297763,p.H325Y|uc002oms.2,p.H351Y|NM_178544,p.H351Y|uc002omt.2,p.H325Y|ENST00000347077,p.H351Y	retained_intron, protein_coding, processed_transcript	uc002omt.2	nonsynonymous SNV	exon7	c.C973T	p.H325Y	RLHYQLTEHQRIHTGERPYECKVCG	RLHYQLTEHQRIYTGERPYECKVCG	7.0	9.0	unscreened	-	4253_19:40520228-40520228 C>T_RLHYQLTEHQRIYTGERPYECKVCG
4:141334096-141334096 G>A	0.0	4253	MELANOMA	-	-	-	-	CLGN	ENST00000537281,p.S46F|ENST00000414773,p.S46F|uc011chi.2,p.S46F|uc003iii.3,p.S46F|NM_004362,p.S46F|ENST00000325617,p.S46F|ENST00000509477,p.S46F|NM_001130675,p.S46F	protein_coding	uc011chi.2	nonsynonymous SNV	exon3	c.C137T	p.S46F	NSEEIDVNESELSSEIKYKTPQPIG	NSEEIDVNESELFSEIKYKTPQPIG	7.0	5.0	unscreened	-	4253_4:141334096-141334096 G>A_NSEEIDVNESELFSEIKYKTPQPIG
5:140604665-140604665 C>T	1.0	4253	MELANOMA	-	-	-	-	PCDHB14	ENST00000239449,p.R530C|ENST00000515856,p.R377C|NM_018934,p.R530C|uc003ljb.3,p.R530C	protein_coding	uc003ljb.3	nonsynonymous SNV	exon1	c.C1588T	p.R530C	SLDYEALQEFEFRVGATDRGSPALS	SLDYEALQEFEFCVGATDRGSPALS	6.0	5.0	-	-	4253_5:140604665-140604665 C>T_SLDYEALQEFEFCVGATDRGSPALS
9:137642437-137642437 C>T	1.0	4253	MELANOMA	-	-	-	-	COL5A1	uc031tfl.1,p.P515L|ENST00000371817,p.P515L|uc004cfe.4,p.P515L|NM_000093,p.P515L|NM_001278074,p.P515L	retained_intron, protein_coding, processed_transcript	uc031tfl.1	nonsynonymous SNV	exon12	c.C1544T	p.P515L	RPGLPGADGLPGPPGTMLMLPFRFG	RPGLPGADGLPGLPGTMLMLPFRFG	9.0	10.0	unscreened	-	4253_9:137642437-137642437 C>T_RPGLPGADGLPGLPGTMLMLPFRFG
9:104169783-104169783 C>T	1.0	4253	MELANOMA	-	-	-	-	ZNF189	NM_001278240,p.H70Y|uc031teq.1,p.H70Y	protein_coding	uc031teq.1	nonsynonymous SNV	exon3	c.C208T	p.H70Y	SLNLLGLSDQSSHLSYLSSWDYRCF	SLNLLGLSDQSSYLSYLSSWDYRCF	8.0	7.0	unscreened	-	4253_9:104169783-104169783 C>T_SLNLLGLSDQSSYLSYLSSWDYRCF
9:123292395-123292395 G>A	1.0	4253	MELANOMA	-	-	-	-	CDK5RAP2	ENST00000481266,p.S229F|ENST00000349780,p.S229F|ENST00000473282,p.S228F|NM_001011649,p.S229F|NM_018249,p.S229F|NM_001272039,p.S229F|ENST00000360190,p.S229F|uc004bki.3,p.S28F|ENST00000480112,p.S228F|uc004bkf.4,p.S229F|uc004bkh.2,p.S229F|ENST00000359309,p.S229F|uc004bkg.4,p.S229F|ENST00000360822,p.S229F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004bki.3	nonsynonymous SNV	exon2	c.C83T	p.S28F	DEKDRLIEELKLSLKSKEALIQCLK	DEKDRLIEELKLFLKSKEALIQCLK	10.0	10.0	unscreened	-	4253_9:123292395-123292395 G>A_DEKDRLIEELKLFLKSKEALIQCLK
5:140474538-140474538 G>A	1.0	4253	MELANOMA	-	-	-	-	PCDHB2	uc003lil.3,p.G55E|ENST00000194155,p.G55E|NM_018936,p.G55E	protein_coding	uc003lil.3	nonsynonymous SNV	exon1	c.G164A	p.G55E	SGSFVANLLKDLGLEIGELAVRGAR	SGSFVANLLKDLELEIGELAVRGAR	5.0	7.0	unscreened	-	4253_5:140474538-140474538 G>A_SGSFVANLLKDLELEIGELAVRGAR
12:113758234-113758234 G>A	1.0	4253	MELANOMA	-	-	-	-	SLC8B1	NM_024959,p.S199F|ENST00000552014,p.S199F|uc001tvc.3,p.S199F|ENST00000202831,p.S199F|ENST00000549181,p.S199F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tvc.3	nonsynonymous SNV	exon7	c.C596T	p.S199F	GGITILHPFMAASRPFFRDIVFYMV	GGITILHPFMAAFRPFFRDIVFYMV	8.0	7.0	-	-	4253_12:113758234-113758234 G>A_GGITILHPFMAAFRPFFRDIVFYMV
10:114849265-114849265 C>T	1.0	4253	MELANOMA	-	-	-	1	TCF7L2	ENST00000369395,p.S198F|ENST00000355717,p.S197F|uc010qrr.2,p.S92F|ENST00000346198,p.S167F|uc001lag.4,p.S197F|NM_001146283,p.S197F|uc010qru.2,p.S67F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qru.2	nonsynonymous SNV	exon2	c.C200T	p.S67F	STQVFRDMKRSHSLQKVGEPWCIES	STQVFRDMKRSHFLQKVGEPWCIES	9.0	10.0	-	-	4253_10:114849265-114849265 C>T_STQVFRDMKRSHFLQKVGEPWCIES
10:8019238-8019238 C>T	1.0	4253	MELANOMA	-	-	-	-	TAF3	NM_031923,p.P756L|ENST00000344293,p.P756L|uc010qbd.3,p.P756L	protein_coding	uc010qbd.3	nonsynonymous SNV	exon4	c.C2267T	p.P756L	KIKVEPVALAPSPVIPRLTLRVGAG	KIKVEPVALAPSLVIPRLTLRVGAG	7.0	10.0	unscreened	-	4253_10:8019238-8019238 C>T_KIKVEPVALAPSLVIPRLTLRVGAG
10:7679412-7679412 G>A	1.0	4253	MELANOMA	-	-	-	-	ITIH5	NM_001001851,p.S144F|NM_030569,p.S144F|uc001ijr.2,p.S144F|uc021pmv.1,p.S144F|ENST00000256861,p.S144F|ENST00000397146,p.S144F|ENST00000397145,p.S144F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pmv.1	nonsynonymous SNV	exon5	c.C431T	p.S144F	ENGEKGTEIFRASAVIPSKDKAAFF	ENGEKGTEIFRAFAVIPSKDKAAFF	8.0	10.0	unscreened	-	4253_10:7679412-7679412 G>A_ENGEKGTEIFRAFAVIPSKDKAAFF
12:123097713-123097713 C>G	1.0	4253	MELANOMA	-	-	-	-	KNTC1	ENST00000537348,p.L318V|ENST00000546125,p.L80V|uc010taf.2,p.L818V|ENST00000450485,p.L818V|NM_014708,p.L1893V|uc001ucv.3,p.L1893V|ENST00000333479,p.L1893V	retained_intron, protein_coding, processed_transcript	uc010taf.2	nonsynonymous SNV	exon29	c.C2452G	p.L818V	LTFAHRTRALQCLFYLADKETIESL	LTFAHRTRALQCVFYLADKETIESL	9.0	7.0	-	-	4253_12:123097713-123097713 C>G_LTFAHRTRALQCVFYLADKETIESL
12:34179725-34179725 C>T	1.0	4253	MELANOMA	-	-	-	-	ALG10	NM_032834,p.P433S|ENST00000266483,p.P433S|uc001rlm.3,p.P433S	retained_intron, protein_coding, nonsense_mediated_decay	uc001rlm.3	nonsynonymous SNV	exon3	c.C1297T	p.P433S	PYVIYRLNIPLPPTSRLICELSCYA	PYVIYRLNIPLPSTSRLICELSCYA	5.0	2.0	unscreened	-	4253_12:34179725-34179725 C>T_PYVIYRLNIPLPSTSRLICELSCYA
13:77656093-77656093 T>A	1.0	4253	MELANOMA	-	-	-	-	MYCBP2	uc021rks.1,p.Q3691L|ENST00000407578,p.Q3691L|uc001vke.3,p.Q273L|ENST00000544440,p.Q3653L|NM_015057,p.Q3691L|uc010aev.3,p.Q3057L|ENST00000357337,p.Q3653L	protein_coding, processed_transcript	uc021rks.1	nonsynonymous SNV	exon64	c.A11072T	p.Q3691L	RCWSLKFKQSDHQFLHQSNVFHHIN	RCWSLKFKQSDHLFLHQSNVFHHIN	9.0	5.0	unscreened	-	4253_13:77656093-77656093 T>A_RCWSLKFKQSDHLFLHQSNVFHHIN
12:10999745-10999745 G>A	1.0	4253	MELANOMA	-	-	-	-	PRR4	NM_007244,p.P108S|uc001qyz.4,p.P108S|ENST00000228811,p.P108S	retained_intron, protein_coding, processed_transcript	uc001qyz.4	nonsynonymous SNV	exon3	c.C322T	p.P108S	RRGHRQLSLPRFPSVSLQEASSFFQ	RRGHRQLSLPRFSSVSLQEASSFFQ	9.0	7.0	-	-	4253_12:10999745-10999745 G>A_RRGHRQLSLPRFSSVSLQEASSFFQ
16:1990822-1990822 G>A	1.0	4253	MELANOMA	-	-	-	-	MSRB1	ENST00000564908,p.P139S|ENST00000399753,p.P214S	protein_coding, processed_transcript	ENST00000564908	nonsynonymous SNV	exon4	c.C415T	p.P139S	RVPERRPQAGAVPILNIQQLAEVCP	RVPERRPQAGAVSILNIQQLAEVCP	9.0	8.0	unscreened	-	4253_16:1990822-1990822 G>A_RVPERRPQAGAVSILNIQQLAEVCP
2:79348754-79348754 G>C	1.0	4253	MELANOMA	-	-	-	-	REG1A	uc010ysd.2,p.R44P|NM_002909,p.R44P|ENST00000233735,p.R44P|uc002snz.3,p.R44P|uc010ffx.1,p.R44P	retained_intron, protein_coding	uc010ysd.2	nonsynonymous SNV	exon2	c.G131C	p.R44P	ARISCPEGTNAYRSYCYYFNEDRET	ARISCPEGTNAYPSYCYYFNEDRET	5.0	8.0	-	-	4253_2:79348754-79348754 G>C_ARISCPEGTNAYPSYCYYFNEDRET
7:73010191-73010191 C>T	1.0	4253	MELANOMA	0.0023	-	-	-	MLXIPL	ENST00000414749,p.E721K|ENST00000429400,p.E704K|NM_032954,p.E702K|uc003tyl.1,p.E721K|ENST00000434326,p.E629K|ENST00000395189,p.E630K|ENST00000354613,p.E702K|uc003typ.1,p.E629K|ENST00000313375,p.E723K|uc003tym.1,p.E704K|uc003tyn.1,p.E723K|NM_032951,p.E723K|NM_032952,p.E704K|NM_032953,p.E721K|uc003tyk.1,p.E702K	retained_intron, protein_coding, nonsense_mediated_decay	uc003typ.1	nonsynonymous SNV	exon13	c.G1885A	p.E629K	QEEAQQLRDEIEELNAAINLCQQQL	QEEAQQLRDEIEKLNAAINLCQQQL	6.0	3.0	unscreened	-	4253_7:73010191-73010191 C>T_QEEAQQLRDEIEKLNAAINLCQQQL
20:60701417-60701417 T>A	1.0	4253	MELANOMA	-	-	-	-	LSM14B	NM_144703,p.F117I|ENST00000253001,p.F117I|ENST00000279068,p.F117I|ENST00000400318,p.F143I|uc002ybt.2,p.F117I|uc010gjx.1,p.F143I|ENST00000370915,p.F117I|ENST00000279069,p.F117I|uc010gjy.1,p.F117I	protein_coding	uc010gjy.1	nonsynonymous SNV	exon3	c.T349A	p.F117I	ASPFQPHVPYSPFRGMAPYGPLAAS	ASPFQPHVPYSPIRGMAPYGPLAAS	9.0	4.0	-	-	4253_20:60701417-60701417 T>A_ASPFQPHVPYSPIRGMAPYGPLAAS
14:21681248-21681248 G>A	1.0	4253	MELANOMA	-	-	-	-	HNRNPC	ENST00000556142,p.P145S|uc001wad.3,p.P65S|NM_001077443,p.P132S|NM_031314,p.P145S|ENST00000553753,p.P132S|ENST00000553300,p.P132S|ENST00000336053,p.P132S|uc001vzy.3,p.P145S|ENST00000557157,p.P53S|NM_004500,p.P132S|uc001vzw.3,p.P132S|ENST00000449098,p.P132S|ENST00000555914,p.P132S|ENST00000430246,p.P132S|ENST00000555309,p.P145S|NM_001077442,p.P145S|ENST00000320084,p.P145S|uc010ail.3,p.P145S|uc001waa.3,p.P145S|ENST00000554383,p.P132S|ENST00000554539,p.P29S|uc001vzz.3,p.P132S|ENST00000555215,p.P145S|ENST00000420743,p.P145S|uc001wae.3,p.P132S|ENST00000557201,p.P145S|ENST00000554969,p.P132S|ENST00000554455,p.P145S|ENST00000556897,p.P132S|ENST00000555137,p.P145S|ENST00000556513,p.P145S|ENST00000556628,p.P65S	retained_intron, protein_coding, nonsense_mediated_decay	uc010ail.3	nonsynonymous SNV	exon8	c.C433T	p.P145S	YDRMYSYPARVPPPPPIARAVVPSK	YDRMYSYPARVPSPPPIARAVVPSK	10.0	3.0	-	-	4253_14:21681248-21681248 G>A_YDRMYSYPARVPSPPPIARAVVPSK
15:101718792-101718792 C>T	1.0	4253	MELANOMA	-	-	-	-	CHSY1	uc021sxt.1,p.A404T|ENST00000254190,p.A404T|uc010usd.2,p.A132T|NM_014918,p.A404T	protein_coding, processed_transcript	uc021sxt.1	nonsynonymous SNV	exon3	c.G1210A	p.A404T	PPRRGMDSAQREALDDIVMQVMEMI	PPRRGMDSAQRETLDDIVMQVMEMI	7.0	3.0	-	-	4253_15:101718792-101718792 C>T_PPRRGMDSAQRETLDDIVMQVMEMI
3:33065789-33065789 G>A	1.0	4253	MELANOMA	-	-	-	-	GLB1	ENST00000307377,p.P235L|ENST00000307363,p.P366L|ENST00000445488,p.P414L|uc003cfh.1,p.P336L|uc003cfi.1,p.P366L|uc011axk.1,p.P414L|NM_001079811,p.P336L|ENST00000399402,p.P336L|uc003cfj.1,p.P235L|NM_000404,p.P366L|NM_001135602,p.P235L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011axk.1	nonsynonymous SNV	exon12	c.C1241T	p.P414L	IQKFEKVPEGPIPPSTPKFAYGKVT	IQKFEKVPEGPILPSTPKFAYGKVT	9.0	3.0	unscreened	-	4253_3:33065789-33065789 G>A_IQKFEKVPEGPILPSTPKFAYGKVT
17:7663175-7663175 T>C	1.0	4253	MELANOMA	-	-	-	-	DNAH2	NM_020877,p.S902P|ENST00000389173,p.S902P|ENST00000572933,p.S902P|uc002giu.1,p.S902P	retained_intron, protein_coding, nonsense_mediated_decay	uc002giu.1	nonsynonymous SNV	exon16	c.T2704C	p.S902P	AGVVNDIGNHLFSTISVFCHLPDIL	AGVVNDIGNHLFPTISVFCHLPDIL	7.0	7.0	unscreened	-	4253_17:7663175-7663175 T>C_AGVVNDIGNHLFPTISVFCHLPDIL
2:63272233-63272233 G>A	1.0	4253	MELANOMA	-	-	ID=COSM193819;OCCURENCE=1(large_intestine),1(endometrium)	-	EHBP1	NM_015252,p.E1175K|uc010fcp.3,p.E1104K|ENST00000405289,p.E1140K|NM_001142614,p.E1140K|uc002sbz.3,p.E1104K|NM_001142616,p.E1104K|ENST00000431489,p.E1104K|ENST00000354487,p.E1140K|uc002sby.3,p.E1175K|ENST00000263991,p.E1175K|ENST00000405015,p.E1104K|uc002scb.3,p.E1140K|NM_001142615,p.E1104K	retained_intron, protein_coding, processed_transcript	uc010fcp.3	nonsynonymous SNV	exon22	c.G3310A	p.E1104K	EDWQKTEAQKRREQLLLDELVALVN	EDWQKTEAQKRRKQLLLDELVALVN	8.0	2.0	unscreened	-	4253_2:63272233-63272233 G>A_EDWQKTEAQKRRKQLLLDELVALVN
8:124031502-124031502 A>C	1.0	4253	MELANOMA	-	-	-	-	DERL1	uc011lif.2,p.F84V|ENST00000523036,p.F84V|ENST00000519018,p.F84V|ENST00000259512,p.F184V|uc003ypl.3,p.F184V|ENST00000419562,p.F84V|uc003ypn.3,p.F184V|NM_024295,p.F184V	retained_intron, protein_coding	uc011lif.2	nonsynonymous SNV	exon3	c.T250G	p.F84V	NELIGNLVGHLYFFLMFRYPMDLGG	NELIGNLVGHLYVFLMFRYPMDLGG	9.0	5.0	unscreened	-	4253_8:124031502-124031502 A>C_NELIGNLVGHLYVFLMFRYPMDLGG
1:186645650-186645650 G>A	1.0	4253	MELANOMA	-	-	-	-	PTGS2	uc001gsb.3,p.P307S|uc009wyo.3,p.P154S|NM_000963,p.P307S|ENST00000367468,p.P307S	protein_coding, processed_transcript, nonsense_mediated_decay	uc009wyo.3	nonsynonymous SNV	exon7	c.C460T	p.P154S	HNRVCDVLKQEHPEWGDEQLFQTSR	HNRVCDVLKQEHSEWGDEQLFQTSR	6.0	2.0	unscreened	-	4253_1:186645650-186645650 G>A_HNRVCDVLKQEHSEWGDEQLFQTSR
10:105372763-105372763 G>A	1.0	4253	MELANOMA	-	-	-	-	SH3PXD2A	uc010qqs.1,p.H176Y|uc009xxn.1,p.H176Y|uc010qqu.1,p.H284Y|ENST00000369774,p.H369Y|ENST00000355946,p.H341Y|uc001kxj.1,p.H341Y|ENST00000427662,p.H231Y|uc010qqt.1,p.H218Y|uc010qqr.2,p.H231Y|ENST00000538130,p.H204Y|ENST00000540321,p.H236Y|NM_014631,p.H341Y	protein_coding	uc010qqu.1	nonsynonymous SNV	exon9	c.C850T	p.H284Y	GDKETPPAEGEGHEAPIAKKEISLP	GDKETPPAEGEGYEAPIAKKEISLP	9.0	10.0	unscreened	-	4253_10:105372763-105372763 G>A_GDKETPPAEGEGYEAPIAKKEISLP
2:167134769-167134769 G>A	1.0	4253	MELANOMA	-	-	-	-	SCN9A	ENST00000375387,p.P801S|ENST00000409672,p.P789S|NM_002977,p.P789S|ENST00000409435,p.P800S|ENST00000303354,p.P801S|uc010fpl.3,p.P789S	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon15	c.C2365T	p.P789S	AAEMVLKLIAMDPYEYFQVGWNIFD	AAEMVLKLIAMDSYEYFQVGWNIFD	7.0	7.0	-	-	4253_2:167134769-167134769 G>A_AAEMVLKLIAMDSYEYFQVGWNIFD
Y:21877621-21877621 G>A	1.0	4253	MELANOMA	-	-	-	-	KDM5D	NM_001146706,p.R683W|ENST00000440077,p.R699W|ENST00000382806,p.R683W|uc010nwy.3,p.R683W|ENST00000541639,p.R771W|ENST00000317961,p.R740W|NM_004653,p.R740W|uc004fug.3,p.R740W|uc011naz.2,p.R771W|uc011nba.1,p.R740W|NM_001146705,p.R771W	retained_intron, protein_coding	uc011nba.1	nonsynonymous SNV	exon17	c.C2218T	p.R740W	CKCSSSRQYLRYRYTLDELPTMLHK	CKCSSSRQYLRYWYTLDELPTMLHK	8.0	10.0	-	-	4253_Y:21877621-21877621 G>A_CKCSSSRQYLRYWYTLDELPTMLHK
1:243778408-243778408 G>A	1.0	4253	MELANOMA	-	-	-	2	AKT3	NM_005465,p.P206L|NM_001206729,p.P206L|uc001iab.2,p.P206L|NM_181690,p.P206L|uc001hzz.1,p.P206L|ENST00000263826,p.P206L|ENST00000366540,p.P206L|ENST00000336199,p.P206L|ENST00000366539,p.P206L|uc021plu.1,p.P206L	protein_coding, processed_transcript	uc021plu.1	nonsynonymous SNV	exon7	c.C617T	p.P206L	LTESRVLKNTRHPFLTSLKYSFQTK	LTESRVLKNTRHLFLTSLKYSFQTK	8.0	1.0	-	-	4253_1:243778408-243778408 G>A_LTESRVLKNTRHLFLTSLKYSFQTK
1:1635563-1635563 C>T	1.0	4253	MELANOMA	-	-	-	-	CDK11A	ENST00000357760,p.R569Q|uc001ahj.4,p.R77Q|NM_033529,p.R560Q|ENST00000358779,p.R560Q|ENST00000378638,p.R536Q|ENST00000356200,p.R536Q|ENST00000378633,p.R573Q|ENST00000404249,p.R570Q|uc009vkp.3,p.R187Q|uc009vkr.3,p.R560Q|NM_024011,p.R570Q|uc009vks.3,p.R570Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vks.3	nonsynonymous SNV	exon16	c.G1709A	p.R570Q	AGILKVGDFGLAREYGSPLKAYTPV	AGILKVGDFGLAQEYGSPLKAYTPV	9.0	10.0	-	-	4253_1:1635563-1635563 C>T_AGILKVGDFGLAQEYGSPLKAYTPV
7:43594301-43594301 C>T	1.0	4253	MELANOMA	-	-	-	-	HECW1	ENST00000453890,p.P1507S|uc003tid.1,p.P1541S|uc011kbi.1,p.P1507S|ENST00000395891,p.P1541S|NM_015052,p.P1541S|NM_001287059,p.P1507S	protein_coding, processed_transcript	uc011kbi.1	nonsynonymous SNV	exon27	c.C4519T	p.P1507S	RLLQFVTGTSSVPYEGFAALRGSNG	RLLQFVTGTSSVSYEGFAALRGSNG	6.0	9.0	-	-	4253_7:43594301-43594301 C>T_RLLQFVTGTSSVSYEGFAALRGSNG
1:235909813-235909813 G>A	1.0	4253	MELANOMA	-	-	-	-	LYST	ENST00000389793,p.P2599S|uc001hxj.3,p.P2599S|ENST00000389794,p.P2599S|NM_000081,p.P2599S|NM_001301365,p.P2599S	retained_intron, protein_coding, processed_transcript	uc001hxj.3	nonsynonymous SNV	exon29	c.C7795T	p.P2599S	QKRKSIAGPRKFPLAQTESLLMKMR	QKRKSIAGPRKFSLAQTESLLMKMR	9.0	3.0	-	-	4253_1:235909813-235909813 G>A_QKRKSIAGPRKFSLAQTESLLMKMR
1:235909813-235909813 G>A	1.0	4253	MELANOMA	-	-	-	-	LYST	uc009xga.1,p.P235S	retained_intron, protein_coding, processed_transcript	uc009xga.1	nonsynonymous SNV	exon5	c.C703T	p.P235S	CVVPPGAGPRKFPLAQTESLLMKMR	CVVPPGAGPRKFSLAQTESLLMKMR	9.0	3.0	-	-	4253_1:235909813-235909813 G>A_CVVPPGAGPRKFSLAQTESLLMKMR
1:43221232-43221232 G>A	1.0	4253	MELANOMA	-	-	-	-	LEPRE1	NM_001146289,p.P386L|ENST00000397054,p.P386L|NM_022356,p.P386L|uc001chv.2,p.P386L|ENST00000236040,p.P386L|uc001chx.4,p.P386L|ENST00000296388,p.P386L|uc001chw.2,p.P386L|NM_001243246,p.P386L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001chx.4	nonsynonymous SNV	exon6	c.C1157T	p.P386L	ELLFFAYDVFGIPFVDPDSWTPEEV	ELLFFAYDVFGILFVDPDSWTPEEV	10.0	5.0	-	-	4253_1:43221232-43221232 G>A_ELLFFAYDVFGILFVDPDSWTPEEV
17:39115010-39115010 G>A	1.0	4253	MELANOMA	-	-	-	-	KRT39	ENST00000355612,p.S440F|uc002hvo.1,p.S440F|NM_213656,p.S440F|uc010wfm.1,p.S173F	retained_intron, protein_coding, nonsense_mediated_decay	uc010wfm.1	nonsynonymous SNV	exon8	c.C518T	p.S173F	AIESTAPACTSSSPCSLKEHCSACG	AIESTAPACTSSFPCSLKEHCSACG	5.0	10.0	unscreened	-	4253_17:39115010-39115010 G>A_AIESTAPACTSSFPCSLKEHCSACG
2:32694544-32694544 G>A	1.0	4253	MELANOMA	-	-	-	2	BIRC6	uc010ezu.3,p.G2070E|NM_016252,p.G2070E|ENST00000421745,p.G2070E	retained_intron, protein_coding, nonsense_mediated_decay	uc010ezu.3	nonsynonymous SNV	exon30	c.G6209A	p.G2070E	ACEELFKHLCISGTPKIRLHTGLLL	ACEELFKHLCISETPKIRLHTGLLL	9.0	8.0	unscreened	-	4253_2:32694544-32694544 G>A_ACEELFKHLCISETPKIRLHTGLLL
19:5684885-5684885 C>G	1.0	4253	MELANOMA	-	-	-	-	HSD11B1L	ENST00000584904,p.F14L|uc002mck.4,p.F14L|NM_198533,p.F14L|ENST00000579562,p.F14L|ENST00000423665,p.F14L|uc002mcn.4,p.F14L|ENST00000581521,p.F14L|ENST00000577257,p.F14L|ENST00000422535,p.F14L|ENST00000339423,p.F14L|uc010dug.4,p.F61L|NM_198706,p.F14L|ENST00000578832,p.F14L|ENST00000581773,p.F14L|NM_001267868,p.F61L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dug.4	nonsynonymous SNV	exon3	c.C183G	p.F61L	KVLLLTGLGALFFAYYWDDNFDPAS	KVLLLTGLGALFLAYYWDDNFDPAS	9.0	2.0	-	-	4253_19:5684885-5684885 C>G_KVLLLTGLGALFLAYYWDDNFDPAS
19:5684885-5684885 C>G	1.0	4253	MELANOMA	-	-	-	-	HSD11B1L	ENST00000579559,p.F14L|NM_001267870,p.F14L|uc031riy.1,p.F14L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031riy.1	nonsynonymous SNV	exon2	c.C42G	p.F14L	KVLLLTGLGALFFAYYWDDNFDPGK	KVLLLTGLGALFLAYYWDDNFDPGK	9.0	2.0	-	-	4253_19:5684885-5684885 C>G_KVLLLTGLGALFLAYYWDDNFDPGK
19:5684885-5684885 C>G	1.0	4253	MELANOMA	-	-	-	-	HSD11B1L	ENST00000577917,p.F14L|uc002mcr.4,p.F14L|NM_198705,p.F14L|NM_001267871,p.F14L|ENST00000582346,p.F14L|uc002mcl.4,p.F14L|ENST00000301382,p.F14L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mcr.4	nonsynonymous SNV	exon2	c.C42G	p.F14L	KVLLLTGLGALFFAYYWDDNFDPGG	KVLLLTGLGALFLAYYWDDNFDPGG	9.0	2.0	unscreened	-	4253_19:5684885-5684885 C>G_KVLLLTGLGALFLAYYWDDNFDPGG
7:97846722-97846722 G>A	1.0	4253	MELANOMA	-	-	-	-	TECPR1	ENST00000379795,p.H1162Y|ENST00000447648,p.H1160Y|NM_015395,p.H1160Y|uc003upg.4,p.H1160Y	retained_intron, protein_coding, processed_transcript	uc003upg.4	nonsynonymous SNV	exon26	c.C3478T	p.H1160Y	SQEQEPSAPPEAHGPVCC	SQEQEPSAPPEAYGPVCC	8.0	5.0	unscreened	-	4253_7:97846722-97846722 G>A_SQEQEPSAPPEAYGPVCC
20:3955004-3955004 G>A	1.0	4253	MELANOMA	-	-	-	-	RNF24	ENST00000545616,p.P11S|uc002wki.2,p.P11S|NM_001134338,p.P11S|ENST00000432261,p.P11S	protein_coding	uc002wki.2	nonsynonymous SNV	exon2	c.C31T	p.P11S	MLNKSGESRYPALFPVLGGSSMS	MLNKSGESRYSALFPVLGGSSMS	8.0	8.0	-	-	4253_20:3955004-3955004 G>A_MLNKSGESRYSALFPVLGGSSMS
8:121262932-121262932 G>A	0.0	4253	MELANOMA	-	-	-	-	COL14A1	ENST00000247781,p.M798I|ENST00000297848,p.M893I|NM_021110,p.M893I|uc003yoy.3,p.M571I|ENST00000309791,p.M893I|uc003yox.4,p.M893I|ENST00000434620,p.M706I	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yoy.3	nonsynonymous SNV	exon17	c.G1713A	p.M571I	INTILITNLLSGMDYNVKIFASQAS	INTILITNLLSGIDYNVKIFASQAS	7.0	7.0	unscreened	-	4253_8:121262932-121262932 G>A_INTILITNLLSGIDYNVKIFASQAS
1:227171507-227171507 C>T	1.0	4253	MELANOMA	-	-	-	-	ADCK3	uc001hqn.1,p.A403V|ENST00000366779,p.A403V|ENST00000366777,p.A403V|uc010pvq.1,p.A124V|ENST00000433743,p.A77V|ENST00000366776,p.A328V|uc009xeq.1,p.A351V|uc001hqm.1,p.A403V|ENST00000366775,p.A248V|NM_020247,p.A403V|uc010pvr.1,p.A77V|uc001hqo.1,p.A124V|ENST00000366778,p.A351V|ENST00000458507,p.A124V	protein_coding, processed_transcript	uc010pvr.1	nonsynonymous SNV	exon6	c.C230T	p.A77V	PEHLIDVLRRELALECDYQREAACA	PEHLIDVLRRELVLECDYQREAACA	9.0	3.0	unscreened	-	4253_1:227171507-227171507 C>T_PEHLIDVLRRELVLECDYQREAACA
1:6314010-6314010 G>A	1.0	4253	MELANOMA	-	-	-	-	GPR153	NM_207370,p.A185V|uc001amp.2,p.A185V|ENST00000377893,p.A185V	protein_coding	uc001amp.2	nonsynonymous SNV	exon3	c.C554T	p.A185V	GVCFLLLVGGSVAMGVICTAIALFQ	GVCFLLLVGGSVVMGVICTAIALFQ	7.0	5.0	unscreened	-	4253_1:6314010-6314010 G>A_GVCFLLLVGGSVVMGVICTAIALFQ
17:59480479-59480479 G>A	1.0	4253	MELANOMA	-	-	-	-	TBX2	uc002ize.3,p.D231N|NM_005994,p.D241N|uc002izg.3,p.D87N|uc010wox.2,p.D241N|ENST00000240328,p.D241N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wox.2	nonsynonymous SNV	exon3	c.G721A	p.D241N	KYQPRFHIVRANDILKLPYSTFRTY	KYQPRFHIVRANNILKLPYSTFRTY	10.0	6.0	-	-	4253_17:59480479-59480479 G>A_KYQPRFHIVRANNILKLPYSTFRTY
3:20215984-20215984 G>A	1.0	4253	MELANOMA	-	-	-	-	SGOL1	NM_001199251,p.P347S|uc003cbz.3,p.P347S|ENST00000412997,p.P347S|ENST00000263753,p.P347S|uc003cca.3,p.P347S|NM_001012409,p.P347S|NM_001012410,p.P347S|uc003cbu.3,p.P347S|NM_001199252,p.P347S|ENST00000421451,p.P347S|uc003cbs.3,p.P347S|ENST00000412868,p.P347S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003cca.3	nonsynonymous SNV	exon6	c.C1039T	p.P347S	YNFNLEEGVHLTPFRQKVSNDSNRE	YNFNLEEGVHLTSFRQKVSNDSNRE	8.0	9.0	-	-	4253_3:20215984-20215984 G>A_YNFNLEEGVHLTSFRQKVSNDSNRE
8:27964297-27964297 G>C	1.0	4253	MELANOMA	-	-	-	-	ELP3	NM_001284226,p.C17S|ENST00000380353,p.C17S|uc011lar.2,p.C17S|NM_001284222,p.C95S|uc003xgn.4,p.C94S|ENST00000521570,p.C95S|ENST00000256398,p.C109S|ENST00000521015,p.C95S|uc003xgo.4,p.C109S|uc011laq.2,p.C37S|NM_001284220,p.C37S|ENST00000524103,p.C37S|ENST00000520288,p.C95S|ENST00000520270,p.C95S|NM_018091,p.C109S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lar.2	nonsynonymous SNV	exon3	c.G50C	p.C17S	HRCPHISFTGNICVYCPGGPDSDFE	HRCPHISFTGNISVYCPGGPDSDFE	9.0	1.0	unscreened	-	4253_8:27964297-27964297 G>C_HRCPHISFTGNISVYCPGGPDSDFE
7:138936798-138936798 G>A	1.0	4253	MELANOMA	-	-	-	-	UBN2	uc011kqr.2,p.E220K|ENST00000288561,p.E137K|ENST00000473989,p.E220K|NM_173569,p.E220K|ENST00000486663,p.E43K	protein_coding	uc011kqr.2	nonsynonymous SNV	exon3	c.G658A	p.E220K	GYDETDPFIDNSEAYDELVPASLTT	GYDETDPFIDNSKAYDELVPASLTT	8.0	5.0	-	-	4253_7:138936798-138936798 G>A_GYDETDPFIDNSKAYDELVPASLTT
16:72137932-72137932 C>T	1.0	4253	MELANOMA	-	-	-	-	DHX38	NM_014003,p.L638F|ENST00000268482,p.L638F|uc002fcb.3,p.L638F	retained_intron, protein_coding, nonsense_mediated_decay	uc002fcb.3	nonsynonymous SNV	exon14	c.C1912T	p.L638F	KYMTDGILLRESLREADLDHYSAII	KYMTDGILLRESFREADLDHYSAII	10.0	6.0	unscreened	-	4253_16:72137932-72137932 C>T_KYMTDGILLRESFREADLDHYSAII
1:28476794-28476794 G>A	0.0	4253	MELANOMA	-	-	-	-	PTAFR	uc001bpl.3,p.P247S|uc001bpm.4,p.P247S|NM_001164721,p.P247S|NM_001164722,p.P247S|uc009vte.3,p.P247S|NM_001164723,p.P247S|uc021ojz.1,p.P247S|uc021oka.1,p.P247S|ENST00000539896,p.P247S|NM_000952,p.P247S|ENST00000305392,p.P247S|ENST00000373857,p.P247S	protein_coding	uc021oka.1	nonsynonymous SNV	exon1	c.C739T	p.P247S	CTVLAVFIICFVPHHVVQLPWTLAE	CTVLAVFIICFVSHHVVQLPWTLAE	8.0	8.0	unscreened	-	4253_1:28476794-28476794 G>A_CTVLAVFIICFVSHHVVQLPWTLAE
1:228362424-228362424 C>T	1.0	4253	MELANOMA	-	-	-	-	IBA57	NM_001010867,p.L125F|ENST00000366711,p.L125F|uc001hsl.4,p.L125F	protein_coding, processed_transcript	uc001hsl.4	nonsynonymous SNV	exon2	c.C373T	p.L125F	YGLQEHSEVSGFLLECDSSVQGALQ	YGLQEHSEVSGFFLECDSSVQGALQ	6.0	8.0	unscreened	-	4253_1:228362424-228362424 C>T_YGLQEHSEVSGFFLECDSSVQGALQ
7:150217940-150217940 C>T	0.0	4253	MELANOMA	-	-	-	-	GIMAP7	uc003whk.3,p.S293L|NM_153236,p.S293L|uc022apu.1,p.S293L|ENST00000313543,p.S293L	protein_coding	uc022apu.1	nonsynonymous SNV	exon1	c.C878T	p.S293L	WKMLSEIWHRFLSKCKFYSS	WKMLSEIWHRFLLKCKFYSS	8.0	7.0	-	-	4253_7:150217940-150217940 C>T_WKMLSEIWHRFLLKCKFYSS
1:227076633-227076633 C>T	1.0	4253	MELANOMA	-	-	-	-	PSEN2	ENST00000366783,p.P224S|NM_000447,p.P224S|ENST00000472139,p.P80S|ENST00000340188,p.P224S|ENST00000460775,p.P51S|uc009xeo.1,p.P224S|ENST00000496965,p.P224S|uc009xep.1,p.P224S|NM_012486,p.P224S|ENST00000391872,p.P257S|ENST00000422240,p.P224S|ENST00000366782,p.P257S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009xep.1	nonsynonymous SNV	exon8	c.C670T	p.P224S	GAVGMVCIHWKGPLVLQQAYLIMIS	GAVGMVCIHWKGSLVLQQAYLIMIS	8.0	3.0	unscreened	-	4253_1:227076633-227076633 C>T_GAVGMVCIHWKGSLVLQQAYLIMIS
5:63496729-63496729 C>T	1.0	4253	MELANOMA	-	-	-	-	RNF180	NM_178532,p.S32F|NM_001113561,p.S32F|uc010iws.3,p.S32F|ENST00000504296,p.S32F|ENST00000381081,p.S32F|ENST00000296615,p.S32F|uc003jti.3,p.S32F|uc003jth.4,p.S32F|ENST00000389100,p.S32F	protein_coding	uc010iws.3	nonsynonymous SNV	exon2	c.C95T	p.S32F	LRCWKCRKCIASSGCFMEYLENQVI	LRCWKCRKCIASFGCFMEYLENQVI	5.0	7.0	-	-	4253_5:63496729-63496729 C>T_LRCWKCRKCIASFGCFMEYLENQVI
7:65419185-65419185 C>T	1.0	4253	MELANOMA	-	-	-	-	VKORC1L1	uc011kds.2,p.R107C|NM_001284342,p.R107C|ENST00000434382,p.R107C	protein_coding	uc011kds.2	nonsynonymous SNV	exon2	c.C319T	p.R107C	VLCAEGVLHHLHRHVRAELPSSHYQ	VLCAEGVLHHLHCHVRAELPSSHYQ	6.0	4.0	unscreened	-	4253_7:65419185-65419185 C>T_VLCAEGVLHHLHCHVRAELPSSHYQ
1:104297375-104297375 C>T	0.0	4253	MELANOMA	-	-	-	-	AMY1A,AMY1B,AMY1C	NM_001008221,p.P347L|NM_001008219,p.P347L|ENST00000370079,p.P347L|uc001duz.3,p.P347L|NM_004038,p.P347L|NM_001008218,p.P347L|uc001duy.3,p.P347L	protein_coding	uc001duz.3	nonsynonymous SNV	exon8	c.C1040T	p.P347L	LYKMAVGFMLAHPYGFTRVMSSYRW	LYKMAVGFMLAHLYGFTRVMSSYRW	6.0	1.0	unscreened	-	4253_1:104297375-104297375 C>T_LYKMAVGFMLAHLYGFTRVMSSYRW
3:57233864-57233864 C>T	1.0	4253	MELANOMA	-	-	-	-	HESX1	ENST00000495160,p.G28E|ENST00000473921,p.G28E|ENST00000295934,p.G28E|uc003din.4,p.G28E|NM_003865,p.G28E	protein_coding	uc003din.4	nonsynonymous SNV	exon1	c.G83A	p.G28E	PSTCSFSIERILGLDQKKDCVPLMK	PSTCSFSIERILELDQKKDCVPLMK	7.0	1.0	-	-	4253_3:57233864-57233864 C>T_PSTCSFSIERILELDQKKDCVPLMK
16:47694460-47694460 G>A	1.0	4253	MELANOMA	-	-	-	-	PHKB	NM_000293,p.R672Q|uc002eeu.4,p.R665Q|uc002eev.4,p.R672Q|ENST00000299167,p.R672Q|ENST00000455779,p.R665Q|NM_001031835,p.R665Q|ENST00000566044,p.R665Q|ENST00000323584,p.R672Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eev.4	nonsynonymous SNV	exon21	c.G2015A	p.R672Q	ISGAVVEQLDFLRISDTEELPEFKS	ISGAVVEQLDFLQISDTEELPEFKS	9.0	5.0	unscreened	-	4253_16:47694460-47694460 G>A_ISGAVVEQLDFLQISDTEELPEFKS
19:30934726-30934726 A>G	1.0	4253	MELANOMA	-	-	-	-	ZNF536	ENST00000585628,p.N86S|ENST00000355537,p.N86S|ENST00000591488,p.N86S|NM_014717,p.N86S|uc010edd.1,p.N86S|uc002nsu.1,p.N86S	protein_coding, processed_transcript	uc010edd.1	nonsynonymous SNV	exon2	c.A257G	p.N86S	GQPMGSQMALLANQLGREVDTSLNG	GQPMGSQMALLASQLGREVDTSLNG	6.0	9.0	unscreened	-	4253_19:30934726-30934726 A>G_GQPMGSQMALLASQLGREVDTSLNG
11:43418269-43418269 C>T	1.0	4253	MELANOMA	-	-	-	-	TTC17	uc001mxh.3,p.S225L|ENST00000299240,p.S225L|uc010rfj.2,p.S168L|ENST00000039989,p.S225L|NM_018259,p.S225L|uc001mxi.3,p.S225L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rfj.2	nonsynonymous SNV	exon5	c.C503T	p.S168L	HLIHEGLQKNTSSWVLYNMASFYWR	HLIHEGLQKNTSLWVLYNMASFYWR	9.0	3.0	unscreened	-	4253_11:43418269-43418269 C>T_HLIHEGLQKNTSLWVLYNMASFYWR
8:97342505-97342505 A>T	1.0	4253	MELANOMA	-	-	-	-	PTDSS1	ENST00000455950,p.E267V|NM_014754,p.E413V|NM_001290225,p.E267V|ENST00000522072,p.E210V|uc003yht.1,p.E413V|uc003yhu.1,p.E267V|ENST00000517309,p.E413V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yhu.1	nonsynonymous SNV	exon9	c.A800T	p.E267V	GMIWYAEHYGHREKTYSECEDGTYS	GMIWYAEHYGHRVKTYSECEDGTYS	9.0	8.0	unscreened	-	4253_8:97342505-97342505 A>T_GMIWYAEHYGHRVKTYSECEDGTYS
7:121766507-121766507 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1084766;OCCURENCE=2(endometrium),1(large_intestine)	-	AASS	NM_005763,p.R132C|ENST00000431170,p.R132C|ENST00000393376,p.R132C|ENST00000417368,p.R132C|ENST00000358954,p.R132C|uc003vka.3,p.R132C|uc003vkb.3,p.R132C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vkb.3	nonsynonymous SNV	exon4	c.C394T	p.R132C	MGLLDEILKQEIRLIDYEKMVDHRG	MGLLDEILKQEICLIDYEKMVDHRG	7.0	5.0	unscreened	-	4253_7:121766507-121766507 G>A_MGLLDEILKQEICLIDYEKMVDHRG
17:35984457-35984457 T>C	1.0	4253	MELANOMA	-	-	-	-	DDX52	ENST00000349699,p.E387G|uc002hoh.2,p.E279G|NM_007010,p.E387G|uc002hoi.2,p.E387G|NM_001291476,p.E279G|ENST00000394367,p.E279G	retained_intron, protein_coding, nonsense_mediated_decay	uc002hoi.2	nonsynonymous SNV	exon9	c.A1160G	p.E387G	SIGARNSAVETVEQELLFVGSETGK	SIGARNSAVETVGQELLFVGSETGK	8.0	10.0	unscreened	-	4253_17:35984457-35984457 T>C_SIGARNSAVETVGQELLFVGSETGK
20:13767959-13767959 T>C	1.0	4253	MELANOMA	-	-	-	-	NDUFAF5	NM_001039375,p.V75A|ENST00000378106,p.V75A|uc002wom.3,p.V75A|NM_024120,p.V75A|uc002won.3,p.V75A|ENST00000378081,p.V75A|ENST00000463598,p.V75A	protein_coding, processed_transcript, nonsense_mediated_decay	uc002won.3	nonsynonymous SNV	exon2	c.T224C	p.V75A	PEPTKFDYLKEEVGSRIADRVYDIP	PEPTKFDYLKEEAGSRIADRVYDIP	9.0	6.0	unscreened	-	4253_20:13767959-13767959 T>C_PEPTKFDYLKEEAGSRIADRVYDIP
21:46929424-46929424 C>T	1.0	4253	MELANOMA	-	-	-	-	COL18A1	uc002zhi.3,p.P1315L|uc002zhg.3,p.P1135L	retained_intron, protein_coding, processed_transcript	uc002zhi.3	nonsynonymous SNV	exon38	c.C3944T	p.P1315L	PRLPEPQPYPGAPHHSSYVHLRPAR	PRLPEPQPYPGALHHSSYVHLRPAR	10.0	7.0	unscreened	-	4253_21:46929424-46929424 C>T_PRLPEPQPYPGALHHSSYVHLRPAR
19:44001404-44001404 G>C	1.0	4253	MELANOMA	-	-	-	-	PHLDB3	ENST00000600660,p.R37G|NM_198850,p.R231G|uc002owo.3,p.R231G|ENST00000599242,p.R231G|ENST00000292140,p.R231G|uc002own.4,p.R231G	retained_intron, protein_coding	uc002owo.3	nonsynonymous SNV	exon6	c.C691G	p.R231G	VQEMREQLDVAQRAYEDLEFQQLER	VQEMREQLDVAQGAYEDLEFQQLER	8.0	7.0	-	-	4253_19:44001404-44001404 G>C_VQEMREQLDVAQGAYEDLEFQQLER
3:49372916-49372916 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1309263;OCCURENCE=1(urinary_tract)	-	USP4	NM_001251877,p.S72F|NM_199443,p.S72F|ENST00000416417,p.S72F|uc003cwq.2,p.S72F|ENST00000265560,p.S72F|NM_003363,p.S72F|ENST00000351842,p.S72F|ENST00000415188,p.S72F|uc021wxv.1,p.S72F|uc003cwr.2,p.S72F	retained_intron, protein_coding, processed_transcript	uc021wxv.1	nonsynonymous SNV	exon2	c.C215T	p.S72F	GEHNLFPGPIDNSGLFSDPESQTLK	GEHNLFPGPIDNFGLFSDPESQTLK	10.0	9.0	unscreened	-	4253_3:49372916-49372916 G>A_GEHNLFPGPIDNFGLFSDPESQTLK
19:36357336-36357336 C>T	1.0	4253	MELANOMA	-	-	-	-	KIRREL2	uc002ocb.4,p.P690L|NM_199180,p.P690L|ENST00000586102,p.P670L|ENST00000360202,p.P690L|uc002ocd.4,p.P652L|ENST00000592409,p.P655L	protein_coding	uc002ocd.4	nonsynonymous SNV	exon14	c.C1955T	p.P652L	SFGPPDLAPGTPPFPYAAFPTPSHP	SFGPPDLAPGTPLFPYAAFPTPSHP	8.0	7.0	unscreened	-	4253_19:36357336-36357336 C>T_SFGPPDLAPGTPLFPYAAFPTPSHP
20:8689365-8689365 C>T	1.0	4253	MELANOMA	-	-	ID=COSM140250;OCCURENCE=1(skin)	-	PLCB1	ENST00000378637,p.P406S|ENST00000378641,p.P406S|uc002wna.4,p.P406S|uc002wnc.1,p.P305S|uc002wnb.4,p.P406S|ENST00000338037,p.P406S|NM_182734,p.P406S|NM_015192,p.P406S|uc010zrb.1,p.P305S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zrb.1	nonsynonymous SNV	exon12	c.C913T	p.P305S	AIAECAFKTSPFPILLSFENHVDSP	AIAECAFKTSPFSILLSFENHVDSP	8.0	5.0	-	-	4253_20:8689365-8689365 C>T_AIAECAFKTSPFSILLSFENHVDSP
5:94030539-94030539 C>A	1.0	4253	MELANOMA	-	-	-	-	ANKRD32	ENST00000265140,p.P900Q|uc003kkr.4,p.P900Q|NM_032290,p.P900Q|uc003kks.3,p.P264Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kks.3	nonsynonymous SNV	exon7	c.C791A	p.P264Q	VEIGKLLLQHGGPVLLQQRNAKGEL	VEIGKLLLQHGGQVLLQQRNAKGEL	8.0	2.0	unscreened	-	4253_5:94030539-94030539 C>A_VEIGKLLLQHGGQVLLQQRNAKGEL
3:121643880-121643880 C>T	1.0	4253	MELANOMA	-	-	ID=COSM727919;OCCURENCE=1(lung)	-	SLC15A2	ENST00000295605,p.S344L|uc003eep.2,p.S375L|NM_021082,p.S375L|NM_001145998,p.S344L|uc011bjn.1,p.S344L|ENST00000489711,p.S375L	protein_coding, processed_transcript	uc011bjn.1	nonsynonymous SNV	exon12	c.C1031T	p.S344L	IYRLVSKCGINFSSLRKMAVGMILA	IYRLVSKCGINFLSLRKMAVGMILA	6.0	8.0	unscreened	-	4253_3:121643880-121643880 C>T_IYRLVSKCGINFLSLRKMAVGMILA
16:2264628-2264628 C>T	1.0	4253	MELANOMA	-	-	-	-	PGP	ENST00000333503,p.E51K|NM_001042371,p.E51K|uc002cpk.1,p.E51K	protein_coding, nonsense_mediated_decay	uc002cpk.1	nonsynonymous SNV	exon1	c.G151A	p.E51K	LWRGETAVPGAPEALRALRARGKRL	LWRGETAVPGAPKALRALRARGKRL	9.0	2.0	unscreened	-	4253_16:2264628-2264628 C>T_LWRGETAVPGAPKALRALRARGKRL
20:46365471-46365471 G>A	0.0	4253	MELANOMA	-	-	-	-	SULF2	ENST00000467815,p.L131F|NM_018837,p.L131F|ENST00000484875,p.L131F|uc002xtq.3,p.L131F|NM_001161841,p.L131F|uc002xtr.3,p.L131F|NM_198596,p.L131F|ENST00000437955,p.L131F|ENST00000359930,p.L131F|ENST00000361612,p.L131F|uc002xto.3,p.L131F|uc010ghv.1,p.L131F	retained_intron, protein_coding, processed_transcript	uc010ghv.1	nonsynonymous SNV	exon3	c.C391T	p.L131F	QAQHESRTFAVYLNSTGYRTAFFGK	QAQHESRTFAVYFNSTGYRTAFFGK	10.0	5.0	-	-	4253_20:46365471-46365471 G>A_QAQHESRTFAVYFNSTGYRTAFFGK
1:205632039-205632039 C>T	0.0	4253	MELANOMA	-	-	-	1	SLC45A3	ENST00000367145,p.D294N|uc001hda.1,p.D294N|NM_033102,p.D294N|uc010pro.1,p.D128N	protein_coding, processed_transcript	uc010pro.1	nonsynonymous SNV	exon1	c.G382A	p.D128N	WMALMTFTLFYTDFVGEGLYQGVPR	WMALMTFTLFYTNFVGEGLYQGVPR	6.0	1.0	unscreened	-	4253_1:205632039-205632039 C>T_WMALMTFTLFYTNFVGEGLYQGVPR
20:61524213-61524213 T>A	1.0	4253	MELANOMA	-	-	-	-	DIDO1	ENST00000395335,p.K1068I|uc002ydr.2,p.K1068I|ENST00000266070,p.K1068I|NM_001193369,p.K1068I|ENST00000395343,p.K1068I|NM_033081,p.K1068I|NM_080797,p.K1068I|uc002ydt.2,p.K1068I|NM_001193370,p.K1068I|uc002yds.2,p.K1068I|uc002ydu.2,p.K1068I|ENST00000395340,p.K1068I	protein_coding	uc002ydu.2	nonsynonymous SNV	exon13	c.A3203T	p.K1068I	IWKGFINMQSVAKFVTKAYPVSGCF	IWKGFINMQSVAIFVTKAYPVSGCF	8.0	9.0	unscreened	-	4253_20:61524213-61524213 T>A_IWKGFINMQSVAIFVTKAYPVSGCF
3:184642654-184642654 T>C	1.0	4253	MELANOMA	-	-	-	-	VPS8	uc003fpb.1,p.M818T|NM_015303,p.M818T|NM_001009921,p.M820T|ENST00000437079,p.M820T|ENST00000446204,p.M728T|ENST00000287546,p.M820T|uc010hyd.1,p.M728T|uc010hye.1,p.M247T|ENST00000436792,p.M818T|uc021xik.1,p.M820T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xik.1	nonsynonymous SNV	exon29	c.T2459C	p.M820T	YQQRIVDILLKVMVENSDFTPSQVG	YQQRIVDILLKVTVENSDFTPSQVG	9.0	8.0	unscreened	-	4253_3:184642654-184642654 T>C_YQQRIVDILLKVTVENSDFTPSQVG
16:31476377-31476377 C>T	1.0	4253	MELANOMA	-	-	-	-	ARMC5	ENST00000457010,p.P678L|NM_024742,p.P678L|uc002eca.4,p.P678L	retained_intron, protein_coding, nonsense_mediated_decay	uc002eca.4	nonsynonymous SNV	exon4	c.C2033T	p.P678L	PEWGGEQGVPVPPWAHRQSSAVSSA	PEWGGEQGVPVPLWAHRQSSAVSSA	9.0	7.0	unscreened	-	4253_16:31476377-31476377 C>T_PEWGGEQGVPVPLWAHRQSSAVSSA
1:897408-897408 T>C	1.0	4253	MELANOMA	-	-	-	-	KLHL17	NM_198317,p.M231T|uc001aca.2,p.M231T|ENST00000338591,p.M231T	retained_intron, protein_coding, nonsense_mediated_decay	uc001aca.2	nonsynonymous SNV	exon4	c.T692C	p.M231T	QHFVDVAKTEEFMLLPLKQVLELVS	QHFVDVAKTEEFTLLPLKQVLELVS	8.0	4.0	unscreened	-	4253_1:897408-897408 T>C_QHFVDVAKTEEFTLLPLKQVLELVS
12:7303579-7303579 C>T	1.0	4253	MELANOMA	-	-	-	-	CLSTN3	ENST00000266546,p.S816F|uc001qsr.3,p.S816F|ENST00000537408,p.S828F|uc001qss.3,p.S828F|NM_014718,p.S816F	retained_intron, protein_coding, processed_transcript	uc001qss.3	nonsynonymous SNV	exon15	c.C2483T	p.S828F	MNRVAHPSHVLSSQQFLHRGHQPPP	MNRVAHPSHVLSFQQFLHRGHQPPP	8.0	9.0	unscreened	-	4253_12:7303579-7303579 C>T_MNRVAHPSHVLSFQQFLHRGHQPPP
7:45125373-45125373 G>A	0.0	4253	MELANOMA	-	-	-	-	NACAD	uc003tmt.3,p.R136W|NM_001146334,p.R136W|ENST00000490531,p.R136W	retained_intron, protein_coding	uc003tmt.3	nonsynonymous SNV	exon2	c.C406T	p.R136W	ETCQALLSPRAARTALRDQEGGHAS	ETCQALLSPRAAWTALRDQEGGHAS	7.0	1.0	unscreened	-	4253_7:45125373-45125373 G>A_ETCQALLSPRAAWTALRDQEGGHAS
19:20807428-20807428 G>A	1.0	4253	MELANOMA	-	-	-	-	ZNF626	ENST00000601440,p.H419Y|uc002npc.1,p.H343Y|NM_001076675,p.H419Y|uc002npb.1,p.H419Y	protein_coding	uc002npc.1	nonsynonymous SNV	exon2	c.C1027T	p.H343Y	KYSSNLTTHKKIHTGERPYKCEECG	KYSSNLTTHKKIYTGERPYKCEECG	7.0	6.0	unscreened	-	4253_19:20807428-20807428 G>A_KYSSNLTTHKKIYTGERPYKCEECG
1:161642897-161642897 C>T	1.0	4253	MELANOMA	-	-	-	1	FCGR2B	ENST00000428605,p.S175F|NM_001002273,p.S174F|NM_001002274,p.S175F|ENST00000367962,p.S175F|uc001gbb.2,p.S175F|NM_001190828,p.S168F|ENST00000403078,p.S175F|uc009wum.2,p.S175F|ENST00000236937,p.S175F|NM_004001,p.S175F|uc009wun.2,p.S168F|ENST00000367961,p.S168F|ENST00000367960,p.S168F|uc001gba.2,p.S174F|NM_001002275,p.S174F|uc001gay.2,p.S174F|uc001gaz.2,p.S175F|ENST00000358671,p.S175F	retained_intron, protein_coding	uc009wun.2	nonsynonymous SNV	exon3	c.C503T	p.S168F	VTFFQNGKSKKFSRSDPNFSIPQAN	VTFFQNGKSKKFFRSDPNFSIPQAN	9.0	5.0	-	-	4253_1:161642897-161642897 C>T_VTFFQNGKSKKFFRSDPNFSIPQAN
16:30998311-30998311 C>G	1.0	4253	MELANOMA	-	-	-	-	HSD3B7	NM_025193,p.R228G|uc002eaf.2,p.R228G|ENST00000297679,p.R228G|uc002eah.2,p.R228G	protein_coding	uc002eah.2	nonsynonymous SNV	exon5	c.C682G	p.R228G	LFRAIPASVEHGRVYVGNVAWMHVL	LFRAIPASVEHGGVYVGNVAWMHVL	9.0	9.0	unscreened	-	4253_16:30998311-30998311 C>G_LFRAIPASVEHGGVYVGNVAWMHVL
11:58892843-58892843 C>T	1.0	4253	MELANOMA	-	-	-	-	FAM111B	NM_198947,p.L425F|ENST00000411426,p.L395F|uc010rko.2,p.L395F|NM_001142703,p.L395F|uc001nnl.3,p.L425F|ENST00000529618,p.L395F|NM_001142704,p.L395F|uc021qjn.1,p.L395F|ENST00000343597,p.L425F|uc001nnm.3,p.L395F	retained_intron, protein_coding	uc021qjn.1	nonsynonymous SNV	exon1	c.C1183T	p.L395F	RKYFREEQKRMNLSPAKQFNIYKKD	RKYFREEQKRMNFSPAKQFNIYKKD	7.0	2.0	unscreened	-	4253_11:58892843-58892843 C>T_RKYFREEQKRMNFSPAKQFNIYKKD
2:220421239-220421239 C>G	1.0	4253	MELANOMA	-	-	-	-	OBSL1	NM_001173431,p.D1425H|ENST00000603926,p.D1425H|NM_015311,p.D1425H|uc010fwl.2,p.D1425H|uc010fwk.3,p.D1425H|ENST00000265317,p.D324H|uc010zli.1,p.D232H|ENST00000404537,p.D1425H|uc002vmh.1,p.D324H|ENST00000373876,p.D1333H	retained_intron, protein_coding, processed_transcript	uc010zli.1	nonsynonymous SNV	exon4	c.G694C	p.D232H	SRILTLRGCQLGDAGTVTLRAGSTA	SRILTLRGCQLGHAGTVTLRAGSTA	10.0	7.0	unscreened	-	4253_2:220421239-220421239 C>G_SRILTLRGCQLGHAGTVTLRAGSTA
1:43827911-43827911 G>A	1.0	4253	MELANOMA	-	-	-	-	CDC20	ENST00000372462,p.G417S|uc001cix.3,p.G417S|NM_001255,p.G417S|ENST00000310955,p.G417S|uc001ciy.3,p.G417S	protein_coding, processed_transcript	uc001ciy.3	nonsynonymous SNV	exon9	c.G1249A	p.G417S	ILWSPHYKELISGHGFAQNQLVIWK	ILWSPHYKELISSHGFAQNQLVIWK	10.0	8.0	unscreened	-	4253_1:43827911-43827911 G>A_ILWSPHYKELISSHGFAQNQLVIWK
4:26432604-26432604 C>T	1.0	4253	MELANOMA	-	-	-	-	RBPJ	NM_203283,p.S478L|uc003gsa.2,p.S479L|uc003grx.2,p.S493L|uc003grz.2,p.S493L|ENST00000342320,p.S479L|ENST00000361572,p.S493L|ENST00000348160,p.S480L|uc003gry.2,p.S478L|NM_005349,p.S493L|ENST00000342295,p.S493L|ENST00000507561,p.S458L|ENST00000345843,p.S478L|NM_203284,p.S479L|ENST00000355476,p.S479L|NM_015874,p.S480L|uc003gsb.2,p.S480L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gsb.2	nonsynonymous SNV	exon11	c.C1439T	p.S480L	YTNASTNSTSVTSSTATVVS	YTNASTNSTSVTLSTATVVS	10.0	9.0	unscreened	-	4253_4:26432604-26432604 C>T_YTNASTNSTSVTLSTATVVS
3:172048443-172048443 C>T	1.0	4253	MELANOMA	-	-	-	-	FNDC3B	ENST00000416957,p.P498S|NM_022763,p.P498S|uc003fhy.3,p.P498S|ENST00000415807,p.P498S|NM_001135095,p.P498S|uc003fhz.4,p.P498S|ENST00000336824,p.P498S|uc003fia.3,p.P429S	retained_intron, protein_coding, processed_transcript	uc003fia.3	nonsynonymous SNV	exon11	c.C1285T	p.P429S	AGITWVTLQWSKPEGCSPEEVITYT	AGITWVTLQWSKSEGCSPEEVITYT	8.0	3.0	unscreened	-	4253_3:172048443-172048443 C>T_AGITWVTLQWSKSEGCSPEEVITYT
13:21306179-21306179 T>A	1.0	4253	MELANOMA	-	-	-	-	N6AMT2	uc001uno.1,p.E103D|NM_174928,p.E103D|ENST00000382758,p.E103D|uc009zzr.1,p.E103D|ENST00000382754,p.E103D	protein_coding, processed_transcript	uc009zzr.1	nonsynonymous SNV	exon4	c.A309T	p.E103D	ELCRENFSIYIFEYDKRFAMYGEEF	ELCRENFSIYIFDYDKRFAMYGEEF	8.0	4.0	-	-	4253_13:21306179-21306179 T>A_ELCRENFSIYIFDYDKRFAMYGEEF
2:152319684-152319684 G>A	1.0	4253	MELANOMA	-	-	-	-	RIF1	uc002txo.3,p.R1217Q|uc002txl.3,p.R1217Q|NM_001177665,p.R1217Q|ENST00000444746,p.R1217Q|uc002txm.3,p.R1217Q|uc002txn.3,p.R1217Q|ENST00000453091,p.R1217Q|NM_001177663,p.R1217Q|ENST00000243326,p.R1217Q|NM_001177664,p.R1217Q|ENST00000428287,p.R1217Q|ENST00000430328,p.R1217Q|NM_018151,p.R1217Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc002txo.3	nonsynonymous SNV	exon29	c.G3650A	p.R1217Q	TTVAGTPPYPTSRRQTFITLEKFDG	TTVAGTPPYPTSQRQTFITLEKFDG	8.0	8.0	unscreened	-	4253_2:152319684-152319684 G>A_TTVAGTPPYPTSQRQTFITLEKFDG
17:78317093-78317093 C>T	1.0	4253	MELANOMA	-	-	-	1	RNF213	ENST00000336301,p.P124S|ENST00000582970,p.P2051S|ENST00000508628,p.P2100S|NM_001256071,p.P2051S|uc021uen.2,p.P2051S	retained_intron, protein_coding, processed_transcript	uc021uen.2	nonsynonymous SNV	exon27	c.C6151T	p.P2051S	LLPFLDAQYQKVPVLFHLDVTSSVQ	LLPFLDAQYQKVSVLFHLDVTSSVQ	9.0	7.0	unscreened	-	4253_17:78317093-78317093 C>T_LLPFLDAQYQKVSVLFHLDVTSSVQ
12:132414329-132414329 C>T	1.0	4253	MELANOMA	-	-	-	-	PUS1	uc001ujf.3,p.P21L|ENST00000544213,p.P21L|ENST00000376649,p.P21L|NM_025215,p.P21L	retained_intron, protein_coding	uc001ujf.3	nonsynonymous SNV	exon1	c.C62T	p.P21L	LGAFGRWTLRLGPRPSCSPRMAGNA	LGAFGRWTLRLGLRPSCSPRMAGNA	9.0	5.0	CD8	-	4253_12:132414329-132414329 C>T_LGAFGRWTLRLGLRPSCSPRMAGNA
19:57088956-57088956 C>T	1.0	4253	MELANOMA	0.0005	-	-	-	ZNF470	uc002qnl.4,p.R387W|NM_001001668,p.R387W|ENST00000330619,p.R387W|ENST00000391709,p.R387W	protein_coding, processed_transcript	uc002qnl.4	nonsynonymous SNV	exon6	c.C1159T	p.R387W	KAFRQNASLIRHRRYYHTGEKPFDC	KAFRQNASLIRHWRYYHTGEKPFDC	8.0	8.0	unscreened	-	4253_19:57088956-57088956 C>T_KAFRQNASLIRHWRYYHTGEKPFDC
14:50649258-50649258 T>G	0.0	4253	MELANOMA	-	-	-	-	SOS2	uc001wxs.4,p.I261L|uc010tql.2,p.I261L|ENST00000216373,p.I261L|ENST00000543680,p.I261L|NM_006939,p.I261L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tql.2	nonsynonymous SNV	exon6	c.A781C	p.I261L	DIHELTVKLLGLIEDTVEMTDESSP	DIHELTVKLLGLLEDTVEMTDESSP	7.0	1.0	unscreened	-	4253_14:50649258-50649258 T>G_DIHELTVKLLGLLEDTVEMTDESSP
2:136872917-136872927 AAGTCATTGGG>-	0.0	4253	MELANOMA	-	-	-	1	CXCR4	ENST00000241393,p.P191fs|uc010fnk.3,p.P176fs|NM_001008540,p.P195fs|ENST00000409817,p.P195fs|uc002tuy.3,p.P195fs|NM_003467,p.P191fs|uc002tuz.3,p.P191fs	protein_coding, processed_transcript	uc010fnk.3	frameshift deletion	exon2	c.526_536del	p.P176fs	EADDRYICDRFYPNDLWVVVFQFQH	EADDRYICDRFYVGGCVPVSAHHGWPYPAWYCHPVLLLHYHLQAVTLQGPPEAQGPQDHSHPHPGFLRLLAALLHWDQHRLLHPPGNHQARV	8.0	7.0	-	-	4253_2:136872917-136872927 AAGTCATTGGG>-_EADDRYICDRFYVGGCVPVSAHHGWPYPAWYCHPVLLLHYHLQAVTLQGPPEAQGPQDHSHPHPGFLRLLAALLHWDQHRLLHPPGNHQARV
3:75832507-75832507 G>A	1.0	4253	MELANOMA	-	-	-	-	ZNF717	ENST00000468296,p.P3S|NM_001290210,p.P3S|uc011bgi.2,p.P3S|ENST00000477374,p.P3S|NM_001290208,p.P3S|NM_001128223,p.P3S|ENST00000422325,p.P3S	protein_coding, processed_transcript	uc011bgi.2	nonsynonymous SNV	exon2	c.C7T	p.P3S	MFPVFSGCFQELQEK	MFSVFSGCFQELQEK	7.0	9.0	unscreened	-	4253_3:75832507-75832507 G>A_MFSVFSGCFQELQEK
1:184672047-184672047 G>A	1.0	4253	MELANOMA	-	-	-	-	EDEM3	uc010pom.2,p.P763S|ENST00000439962,p.P211S|ENST00000318130,p.P763S|ENST00000367512,p.P720S|NM_025191,p.P763S|uc010pok.2,p.P763S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pom.2	nonsynonymous SNV	exon19	c.C2287T	p.P763S	AGDGKDTDDIKIPMLFLFSKEGSII	AGDGKDTDDIKISMLFLFSKEGSII	6.0	8.0	-	-	4253_1:184672047-184672047 G>A_AGDGKDTDDIKISMLFLFSKEGSII
X:117032953-117032953 A>T	1.0	4253	MELANOMA	-	-	-	-	KLHL13	ENST00000540167,p.I613N|ENST00000371882,p.I578N|NM_001168300,p.I623N|ENST00000469946,p.I578N|ENST00000541812,p.I613N|uc011mtn.2,p.I469N|NM_033495,p.I629N|NM_001168299,p.I632N|ENST00000371878,p.I578N|NM_001168301,p.I613N|uc011mto.2,p.I623N|uc004eqk.3,p.I578N|ENST00000371876,p.I578N|uc022cde.1,p.I613N|NM_001168303,p.I587N|uc011mtq.2,p.I613N|ENST00000262820,p.I629N|uc004eqm.3,p.I587N|ENST00000545703,p.I587N|NM_001168302,p.I613N|ENST00000539496,p.I632N|uc011mtp.2,p.I632N|uc004eql.3,p.I629N|ENST00000447671,p.I578N	protein_coding	uc022cde.1	nonsynonymous SNV	exon8	c.T1838A	p.I613N	HKVFDLPESLGGIRACTLTVFPPEE	HKVFDLPESLGGNRACTLTVFPPEE	6.0	10.0	unscreened	-	4253_X:117032953-117032953 A>T_HKVFDLPESLGGNRACTLTVFPPEE
4:120440240-120440240 C>T	1.0	4253	MELANOMA	0.0005	-	-	-	PDE5A	NM_001083,p.D654N|NM_033437,p.D602N|NM_033430,p.D612N|uc003idf.3,p.D612N|uc003idh.3,p.D654N|ENST00000264805,p.D612N|ENST00000394439,p.D602N|uc003idg.3,p.D602N|ENST00000354960,p.D654N	retained_intron, protein_coding, processed_transcript	uc003idh.3	nonsynonymous SNV	exon14	c.G1960A	p.D654N	EILALLIAALSHDLDHRGVNNSYIQ	EILALLIAALSHNLDHRGVNNSYIQ	6.0	7.0	unscreened	-	4253_4:120440240-120440240 C>T_EILALLIAALSHNLDHRGVNNSYIQ
14:21681248-21681248 G>A	1.0	4253	MELANOMA	-	-	-	-	HNRNPC	ENST00000555883,p.P132S|uc001wac.3,p.P132S	retained_intron, protein_coding, nonsense_mediated_decay	uc001wac.3	nonsynonymous SNV	exon5	c.C394T	p.P132S	YDRMYSYPARVPPPPPIARAIKKEL	YDRMYSYPARVPSPPPIARAIKKEL	10.0	3.0	-	-	4253_14:21681248-21681248 G>A_YDRMYSYPARVPSPPPIARAIKKEL
5:140604630-140604630 C>T	1.0	4253	MELANOMA	-	-	ID=COSM1696414;OCCURENCE=1(skin)	-	PCDHB14	uc003ljb.3,p.S518L|NM_018934,p.S518L|ENST00000239449,p.S518L|ENST00000515856,p.S365L	protein_coding	uc003ljb.3	nonsynonymous SNV	exon1	c.C1553T	p.S518L	INADNGHLFALRSLDYEALQEFEFR	INADNGHLFALRLLDYEALQEFEFR	6.0	5.0	unscreened	-	4253_5:140604630-140604630 C>T_INADNGHLFALRLLDYEALQEFEFR
2:3391558-3391558 C>T	1.0	4253	MELANOMA	-	-	-	-	TRAPPC12	ENST00000324266,p.S55L|uc002qxm.1,p.S55L|NM_016030,p.S55L|ENST00000382110,p.S55L|uc010ewm.1,p.S55L|uc002qxn.1,p.S55L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ewm.1	nonsynonymous SNV	exon1	c.C164T	p.S55L	FGSEENETASEGSSPLADKLNEHMM	FGSEENETASEGLSPLADKLNEHMM	10.0	8.0	-	-	4253_2:3391558-3391558 C>T_FGSEENETASEGLSPLADKLNEHMM
14:67859443-67859443 C>T	1.0	4253	MELANOMA	-	-	-	-	PLEK2	uc001xjh.1,p.G202E|ENST00000216446,p.G202E|ENST00000554395,p.G136E|NM_016445,p.G202E	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xjh.1	nonsynonymous SNV	exon5	c.G605A	p.G202E	ENFLRPVGVRSMGAIRSGDLAEQFL	ENFLRPVGVRSMEAIRSGDLAEQFL	8.0	9.0	unscreened	-	4253_14:67859443-67859443 C>T_ENFLRPVGVRSMEAIRSGDLAEQFL
17:16330105-16330105 C>T	1.0	4253	MELANOMA	-	-	-	-	TRPV2	NM_016113,p.P389S|ENST00000338560,p.P389S|uc002gpy.3,p.P389S	retained_intron, protein_coding, processed_transcript	uc002gpy.3	nonsynonymous SNV	exon7	c.C1165T	p.P389S	NKLLQAKWDLLIPKFFLNFLCNLIY	NKLLQAKWDLLISKFFLNFLCNLIY	10.0	6.0	unscreened	-	4253_17:16330105-16330105 C>T_NKLLQAKWDLLISKFFLNFLCNLIY
12:8276482-8276482 C>T	0.0	4253	MELANOMA	-	-	-	-	CLEC4A	NM_016184,p.S3L|uc001qtz.1,p.S3L|NM_194447,p.S3L|uc001qub.1,p.S3L|NM_194448,p.S3L|uc009zga.1,p.S3L|NM_194450,p.S3L|uc001quc.1,p.S3L|ENST00000352620,p.S3L|ENST00000360500,p.S3L|ENST00000345999,p.S3L|ENST00000229332,p.S3L|uc009zgb.1,p.S3L	protein_coding	uc009zgb.1	nonsynonymous SNV	exon1	c.C8T	p.S3L	MTSEITYAEVRFKNE	MTLEITYAEVRFKNE	7.0	2.0	unscreened	-	4253_12:8276482-8276482 C>T_MTLEITYAEVRFKNE
16:1035262-1035262 C>T	1.0	4253	MELANOMA	-	-	-	-	SOX8	uc002ckn.3,p.P406L|NM_014587,p.P406L|ENST00000293894,p.P406L	retained_intron, protein_coding	uc002ckn.3	nonsynonymous SNV	exon3	c.C1217T	p.P406L	AYPGYAPGLYQYPCFHSPRRPYASP	AYPGYAPGLYQYLCFHSPRRPYASP	9.0	1.0	-	-	4253_16:1035262-1035262 C>T_AYPGYAPGLYQYLCFHSPRRPYASP
17:40475329-40475329 T>C	1.0	4253	MELANOMA	-	-	-	1	STAT3	ENST00000404395,p.D566G|ENST00000585517,p.D566G|ENST00000389272,p.D468G|NM_003150,p.D566G|ENST00000588969,p.D566G|uc010wgh.1,p.D468G|NM_213662,p.D566G|uc002hzl.1,p.D566G|NM_139276,p.D566G|uc002hzm.1,p.D566G|ENST00000264657,p.D566G|uc002hzk.1,p.D566G|uc002hzn.1,p.D566G	retained_intron, protein_coding, processed_transcript	uc010wgh.1	nonsynonymous SNV	exon18	c.A1403G	p.D468G	MAGKGFSFWVWLDNIIDLVKKYILA	MAGKGFSFWVWLGNIIDLVKKYILA	9.0	9.0	unscreened	-	4253_17:40475329-40475329 T>C_MAGKGFSFWVWLGNIIDLVKKYILA
14:55451473-55451473 G>A	1.0	4253	MELANOMA	-	-	-	-	WDHD1	NM_001008396,p.S502F|uc001xbn.2,p.S502F|ENST00000359167,p.S143F|uc001xbm.2,p.S625F|NM_007086,p.S625F|ENST00000360586,p.S625F|ENST00000420358,p.S502F|ENST00000421192,p.S502F|uc010aom.2,p.S142F	retained_intron, protein_coding, nonsense_mediated_decay	uc010aom.2	nonsynonymous SNV	exon3	c.C425T	p.S142F	ILHGDPLPLTRKSYLAWIGFSAEGT	ILHGDPLPLTRKFYLAWIGFSAEGT	7.0	9.0	unscreened	-	4253_14:55451473-55451473 G>A_ILHGDPLPLTRKFYLAWIGFSAEGT
5:140574227-140574227 C>T	1.0	4253	MELANOMA	-	-	-	-	PCDHB10	ENST00000239446,p.S701L|NM_018930,p.S701L|uc003lix.3,p.S701L	protein_coding	uc003lix.3	nonsynonymous SNV	exon1	c.C2102T	p.S701L	TVYLVVALASVSSLFLLSVLLFVAV	TVYLVVALASVSLLFLLSVLLFVAV	5.0	7.0	-	-	4253_5:140574227-140574227 C>T_TVYLVVALASVSLLFLLSVLLFVAV
8:1719650-1719650 C>T	1.0	4253	MELANOMA	-	-	-	-	CLN8	uc003wpo.4,p.L144F|NM_018941,p.L144F|ENST00000331222,p.L144F	retained_intron, protein_coding, processed_transcript	uc003wpo.4	nonsynonymous SNV	exon2	c.C430T	p.L144F	DLFLVIHHLFAFLGFLGCLVNLQAG	DLFLVIHHLFAFFGFLGCLVNLQAG	7.0	7.0	unscreened	-	4253_8:1719650-1719650 C>T_DLFLVIHHLFAFFGFLGCLVNLQAG
13:49860370-49860370 C>T	1.0	4253	MELANOMA	-	-	-	-	CDADC1	uc010tgk.2,p.P277S|uc001vcu.3,p.P475S|uc021rjm.1,p.P475S|ENST00000444959,p.P277S|NM_001193478,p.P475S|ENST00000251108,p.P475S|NM_030911,p.P475S	protein_coding, processed_transcript, nonsense_mediated_decay	uc021rjm.1	nonsynonymous SNV	exon9	c.C1423T	p.P475S	LEGVSKFTWQLNPSGAYGLEQNEPE	LEGVSKFTWQLNSSGAYGLEQNEPE	9.0	4.0	-	-	4253_13:49860370-49860370 C>T_LEGVSKFTWQLNSSGAYGLEQNEPE
4:129100627-129100627 A>T	1.0	4253	MELANOMA	-	-	-	-	LARP1B	ENST00000264584,p.M596L|NM_018078,p.M655L|uc003igc.3,p.M74L|ENST00000326639,p.M655L|ENST00000354456,p.M74L|ENST00000441387,p.M655L|uc003iga.3,p.M655L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003igc.3	nonsynonymous SNV	exon3	c.A220T	p.M74L	TNPPLECHVGWVMDSRDRGPGTSSV	TNPPLECHVGWVLDSRDRGPGTSSV	9.0	5.0	-	-	4253_4:129100627-129100627 A>T_TNPPLECHVGWVLDSRDRGPGTSSV
20:33328251-33328251 G>A	1.0	4253	MELANOMA	-	-	-	-	NCOA6	ENST00000374796,p.H1937Y|uc021wce.1,p.H1937Y|uc002xaw.3,p.H1937Y|NM_014071,p.H1937Y|ENST00000359003,p.H1937Y|uc002xav.3,p.H1937Y	retained_intron, protein_coding, processed_transcript	uc021wce.1	nonsynonymous SNV	exon9	c.C5809T	p.H1937Y	ELISAVPTTKSNHGGIASESLAGGL	ELISAVPTTKSNYGGIASESLAGGL	9.0	8.0	unscreened	-	4253_20:33328251-33328251 G>A_ELISAVPTTKSNYGGIASESLAGGL
1:214571309-214571309 G>A	1.0	4253	MELANOMA	-	-	-	-	PTPN14	ENST00000543945,p.S206F	protein_coding, processed_transcript	ENST00000543945	nonsynonymous SNV	exon6	c.C617T	p.S206F	RTIMETVYTLAFSLWGFS	RTIMETVYTLAFFLWGFS	7.0	2.0	-	-	4253_1:214571309-214571309 G>A_RTIMETVYTLAFFLWGFS
4:186423546-186423546 A>G	1.0	4253	MELANOMA	-	-	-	-	PDLIM3	NM_001114107,p.F285L|uc031sib.1,p.F166L|ENST00000284771,p.F285L|ENST00000284770,p.F333L|uc003ixx.4,p.F285L|NM_001257963,p.F166L|NM_001257962,p.F245L|uc003ixw.4,p.F333L|uc031sia.1,p.F245L|NM_014476,p.F333L	retained_intron, protein_coding, nonsense_mediated_decay	uc031sib.1	nonsynonymous SNV	exon5	c.T496C	p.F166L	ADCNLNLKQKGYFFIEGELYCETHA	ADCNLNLKQKGYLFIEGELYCETHA	8.0	4.0	unscreened	-	4253_4:186423546-186423546 A>G_ADCNLNLKQKGYLFIEGELYCETHA
19:37619181-37619181 C>G	1.0	4253	MELANOMA	-	-	-	-	ZNF420	ENST00000304239,p.R430G|uc002ofl.3,p.R430G|NM_144689,p.R430G|ENST00000337995,p.R430G	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ofl.3	nonsynonymous SNV	exon5	c.C1288G	p.R430G	PYQCKECGKAFNRGSLLTRHQRIHT	PYQCKECGKAFNGGSLLTRHQRIHT	8.0	1.0	unscreened	-	4253_19:37619181-37619181 C>G_PYQCKECGKAFNGGSLLTRHQRIHT
11:33106769-33106769 G>A	1.0	4253	MELANOMA	-	-	-	-	CSTF3	NM_001326,p.P673L|ENST00000323959,p.P673L|uc001muh.3,p.P673L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001muh.3	nonsynonymous SNV	exon21	c.C2018T	p.P673L	GGAPELAVEGNGPVESNAVLTKAVK	GGAPELAVEGNGLVESNAVLTKAVK	9.0	9.0	unscreened	-	4253_11:33106769-33106769 G>A_GGAPELAVEGNGLVESNAVLTKAVK
20:60485599-60485599 C>T	1.0	4253	MELANOMA	-	-	-	-	CDH4	ENST00000360469,p.P437L|NM_001794,p.P437L|NM_001252339,p.P363L|uc002ybp.2,p.P363L|NM_001252338,p.P400L|ENST00000543233,p.P363L|uc002ybr.2,p.P400L|uc002ybn.2,p.P437L	protein_coding	uc002ybr.2	nonsynonymous SNV	exon8	c.C1199T	p.P400L	NWNAVYRIISGDPSGHFSVRTDPVT	NWNAVYRIISGDLSGHFSVRTDPVT	8.0	8.0	unscreened	-	4253_20:60485599-60485599 C>T_NWNAVYRIISGDLSGHFSVRTDPVT
5:176523669-176523669 C>T	1.0	4253	MELANOMA	-	-	-	1	FGFR4	ENST00000292410,p.P654S|uc003mfl.3,p.P694S|uc003mfm.3,p.P694S|ENST00000502906,p.P694S|ENST00000393648,p.P626S|NM_022963,p.P654S|ENST00000292408,p.P694S|uc003mfo.3,p.P654S|NM_001291980,p.P626S|ENST00000393637,p.P654S|NM_002011,p.P694S|NM_213647,p.P694S|uc011dfu.2,p.P626S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dfu.2	nonsynonymous SNV	exon16	c.C1876T	p.P626S	IFTLGGSPYPGIPVEELFSLLREGH	IFTLGGSPYPGISVEELFSLLREGH	7.0	4.0	unscreened	-	4253_5:176523669-176523669 C>T_IFTLGGSPYPGISVEELFSLLREGH
19:45728095-45728095 C>T	1.0	4253	MELANOMA	-	-	-	-	EXOC3L2	ENST00000252482,p.D161N|NM_138568,p.D161N|uc002pay.1,p.D161N|ENST00000413988,p.D161N	protein_coding	uc002pay.1	nonsynonymous SNV	exon6	c.G481A	p.D161N	SEPAREASASALDHVTRLCHRVVAN	SEPAREASASALNHVTRLCHRVVAN	7.0	7.0	unscreened	-	4253_19:45728095-45728095 C>T_SEPAREASASALNHVTRLCHRVVAN
2:1657427-1657427 C>T	0.0	4253	MELANOMA	-	-	-	-	PXDN	NM_012293,p.G693S|ENST00000252804,p.G693S|uc002qxa.3,p.G693S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qxa.3	nonsynonymous SNV	exon16	c.G2077A	p.G693S	RTLQLIQEHVQHGLMVDLNGTSYHY	RTLQLIQEHVQHSLMVDLNGTSYHY	9.0	9.0	-	-	4253_2:1657427-1657427 C>T_RTLQLIQEHVQHSLMVDLNGTSYHY
12:122825949-122825949 T>A	1.0	4253	MELANOMA	-	-	-	1	CLIP1	uc001ucj.1,p.E291V|ENST00000540304,p.E524V|ENST00000358808,p.E590V|ENST00000537178,p.E555V|NM_001247997,p.E601V|uc001uch.1,p.E590V|ENST00000302528,p.E590V|ENST00000545889,p.E291V|NM_002956,p.E590V|ENST00000540338,p.E601V|uc001uci.1,p.E555V|ENST00000361654,p.E555V|uc001ucg.2,p.E601V|NM_198240,p.E555V|uc009zxo.1,p.E157V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zxo.1	nonsynonymous SNV	exon4	c.A470T	p.E157V	KALYTATEKLSKENESLKSKLEHAN	KALYTATEKLSKVNESLKSKLEHAN	9.0	7.0	unscreened	-	4253_12:122825949-122825949 T>A_KALYTATEKLSKVNESLKSKLEHAN
8:27964297-27964297 G>C	1.0	4253	MELANOMA	-	-	-	-	ELP3	ENST00000519261,p.C37S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000519261	nonsynonymous SNV	exon3	c.G110C	p.C37S	HRCPHISFTGNICVQPP	HRCPHISFTGNISVQPP	9.0	1.0	unscreened	-	4253_8:27964297-27964297 G>C_HRCPHISFTGNISVQPP
5:176730021-176730021 A>C	1.0	4253	MELANOMA	-	-	-	-	RAB24	uc003mfw.3,p.L59V|ENST00000303270,p.L30V|uc003mfv.3,p.L59V|ENST00000393611,p.L59V|ENST00000303251,p.L59V|NM_130781,p.L59V|NM_001031677,p.L59V	retained_intron, protein_coding	uc003mfw.3	nonsynonymous SNV	exon2	c.T175G	p.L59V	AKVMSVGDRTVTLGIWDTAGSERYE	AKVMSVGDRTVTVGIWDTAGSERYE	10.0	5.0	unscreened	-	4253_5:176730021-176730021 A>C_AKVMSVGDRTVTVGIWDTAGSERYE
10:81926665-81926665 A>T	1.0	4253	MELANOMA	-	-	-	-	ANXA11	uc010qly.1,p.F209Y|ENST00000438331,p.F242Y|uc001kbq.1,p.F242Y|uc010qlx.1,p.F342Y|NM_001278408,p.F242Y|NM_001157,p.F242Y|uc001kbs.1,p.F242Y|ENST00000360615,p.F242Y|NM_001278409,p.F209Y|NM_001278407,p.F242Y|NM_145869,p.F242Y|ENST00000422982,p.F242Y|NM_145868,p.F242Y|ENST00000265447,p.F242Y|ENST00000372231,p.F242Y|uc001kbt.1,p.F242Y|uc001kbr.1,p.F242Y|uc001kbu.1,p.F242Y|ENST00000535999,p.F242Y|ENST00000537102,p.F209Y	protein_coding, processed_transcript	uc010qly.1	nonsynonymous SNV	exon8	c.T626A	p.F209Y	RSNKQRQQILLSFKTAYGKDLIKDL	RSNKQRQQILLSYKTAYGKDLIKDL	10.0	9.0	unscreened	-	4253_10:81926665-81926665 A>T_RSNKQRQQILLSYKTAYGKDLIKDL
3:122591320-122591365 ATTTTTTGAGCTTTTTGTGGAAACTGTCTACCCAGTTCCAGAAGGA>-	0.0	4253	MELANOMA	-	-	-	-	DIRC2	uc010hrm.3,p.I237fs|NM_032839,p.I399fs|uc003efw.4,p.I399fs|ENST00000261038,p.I399fs	protein_coding, nonsense_mediated_decay	uc010hrm.3	frameshift deletion	exon7	c.711_756del	p.I237fs	ILLGVFLNSSVPIFFELFVETVYPV	ILLGVFLNSSVPILLVELSLF	7.0	1.0	unscreened	-	4253_3:122591320-122591365 ATTTTTTGAGCTTTTTGTGGAAACTGTCTACCCAGTTCCAGAAGGA>-_ILLGVFLNSSVPILLVELSLF
12:10999745-10999745 G>A	1.0	4253	MELANOMA	-	-	-	-	PRR4	ENST00000540107,p.S50F	retained_intron, protein_coding, processed_transcript	ENST00000540107	nonsynonymous SNV	exon3	c.C149T	p.S50F	PTRTPSTLSTPISFCQPAGSIIILP	PTRTPSTLSTPIFFCQPAGSIIILP	9.0	7.0	unscreened	-	4253_12:10999745-10999745 G>A_PTRTPSTLSTPIFFCQPAGSIIILP
5:38527394-38527394 G>A	0.0	4253	MELANOMA	-	-	-	1	LIFR	ENST00000263409,p.S87F|NM_001127671,p.S87F|NM_002310,p.S87F|ENST00000506990,p.S87F|uc010ive.1,p.S87F|uc003jli.2,p.S87F|ENST00000453190,p.S87F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ive.1	nonsynonymous SNV	exon4	c.C260T	p.S87F	RGTDYEVCIENRSRSCYQLEKTSIK	RGTDYEVCIENRFRSCYQLEKTSIK	5.0	5.0	unscreened	-	4253_5:38527394-38527394 G>A_RGTDYEVCIENRFRSCYQLEKTSIK
1:11175517-11175517 G>A	1.0	4253	MELANOMA	-	-	-	1	MTOR	ENST00000376838,p.S547F|ENST00000361445,p.S2342F|uc001asd.3,p.S2342F|uc001asc.3,p.S547F|NM_004958,p.S2342F	protein_coding, processed_transcript	uc001asd.3	nonsynonymous SNV	exon51	c.C7025T	p.S2342F	VGYILGLGDRHPSNLMLDRLSGKIL	VGYILGLGDRHPFNLMLDRLSGKIL	8.0	5.0	-	-	4253_1:11175517-11175517 G>A_VGYILGLGDRHPFNLMLDRLSGKIL
7:133689693-133689693 C>T	1.0	4253	MELANOMA	-	-	-	-	EXOC4	uc003vrl.3,p.L403F|ENST00000539845,p.L692F|ENST00000253861,p.L793F|uc011kpo.2,p.L692F|NM_021807,p.L793F|uc003vrk.3,p.L793F|ENST00000545148,p.L403F|ENST00000541309,p.L81F|uc011kpq.2,p.L81F|uc011kpp.2,p.L325F	retained_intron, protein_coding, processed_transcript	uc011kpq.2	nonsynonymous SNV	exon4	c.C241T	p.L81F	EVRVHCFHYLIPLAKEGNYAIVANV	EVRVHCFHYLIPFAKEGNYAIVANV	8.0	6.0	unscreened	-	4253_7:133689693-133689693 C>T_EVRVHCFHYLIPFAKEGNYAIVANV
X:36385209-36385209 C>T	1.0	4253	MELANOMA	-	-	ID=COSM222431;OCCURENCE=1(skin)	-	CXorf30	uc011mkc.3,p.S497F|NM_001098843,p.S497F|ENST00000378657,p.S497F|ENST00000446478,p.S102F|ENST00000378653,p.S782F	protein_coding	uc011mkc.3	nonsynonymous SNV	exon17	c.C1490T	p.S497F	VIDIEGVGLFKESVFELRLKSQTRN	VIDIEGVGLFKEFVFELRLKSQTRN	4.0	10.0	unscreened	-	4253_X:36385209-36385209 C>T_VIDIEGVGLFKEFVFELRLKSQTRN
11:3687359-3687359 A>T	1.0	4253	MELANOMA	-	-	-	-	CHRNA10	uc001lyf.3,p.L444Q|uc010qxu.2,p.L238Q|ENST00000250699,p.L444Q|uc010qxt.2,p.L238Q|NM_020402,p.L444Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qxu.2	nonsynonymous SNV	exon5	c.T713A	p.L238Q	AIFFSMALVMSLLVLVQAL	AIFFSMALVMSLQVLVQAL	6.0	3.0	-	-	4253_11:3687359-3687359 A>T_AIFFSMALVMSLQVLVQAL
10:73058901-73058901 C>A	1.0	4253	MELANOMA	-	-	-	-	UNC5B	ENST00000335350,p.P902H|uc001jro.3,p.P902H|ENST00000373192,p.P891H|uc001jrp.3,p.P891H|NM_170744,p.P902H|NM_001244889,p.P891H	protein_coding	uc001jrp.3	nonsynonymous SNV	exon16	c.C2672A	p.P891H	DRYLNYFATKASPTGVILDLWEALQ	DRYLNYFATKASHTGVILDLWEALQ	7.0	4.0	unscreened	-	4253_10:73058901-73058901 C>A_DRYLNYFATKASHTGVILDLWEALQ
11:34988266-34988266 C>T	1.0	4253	MELANOMA	-	-	-	-	PDHX	NM_001135024,p.P226S|NM_003477,p.P241S|ENST00000448838,p.P226S|ENST00000227868,p.P241S|uc010rep.2,p.P226S|uc001mvt.3,p.P241S	retained_intron, protein_coding, processed_transcript	uc010rep.2	nonsynonymous SNV	exon6	c.C676T	p.P226S	TESRPTPAPTATPTAPSPLQATAGP	TESRPTPAPTATSTAPSPLQATAGP	8.0	4.0	unscreened	-	4253_11:34988266-34988266 C>T_TESRPTPAPTATSTAPSPLQATAGP
3:158380435-158380435 G>A	1.0	4253	MELANOMA	-	-	-	-	GFM1	uc003fcg.3,p.D379N|uc003fcd.3,p.D448N|ENST00000478576,p.D448N|uc003fce.3,p.D448N|NM_024996,p.D448N|ENST00000264263,p.D467N|ENST00000486715,p.D448N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fcg.3	nonsynonymous SNV	exon10	c.G1135A	p.D379N	NSGLSMESIHVPDPVISIAMKPSNK	NSGLSMESIHVPNPVISIAMKPSNK	8.0	7.0	-	-	4253_3:158380435-158380435 G>A_NSGLSMESIHVPNPVISIAMKPSNK
15:42459026-42459026 G>A	1.0	4253	MELANOMA	-	-	-	-	VPS39	uc001zpc.3,p.A488V|ENST00000318006,p.A488V|uc001zpd.3,p.A499V|NM_015289,p.A488V|ENST00000348544,p.A499V|NM_001301138,p.A499V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zpd.3	nonsynonymous SNV	exon15	c.C1496T	p.A499V	CHIEESEHVLKKAHKYSELIILYEK	CHIEESEHVLKKVHKYSELIILYEK	9.0	9.0	unscreened	-	4253_15:42459026-42459026 G>A_CHIEESEHVLKKVHKYSELIILYEK
19:3612054-3612054 G>A	1.0	4253	MELANOMA	-	-	-	-	CACTIN	ENST00000591726,p.P74L|NM_021231,p.P715L|ENST00000221899,p.P647L|uc010dtn.3,p.P563L|ENST00000248420,p.P715L|ENST00000585942,p.P715L|NM_001080543,p.P715L|ENST00000429344,p.P715L|uc002lyh.3,p.P715L|uc002lyi.4,p.P715L|uc010xho.2,p.P174L	retained_intron, protein_coding, nonsense_mediated_decay	uc010xho.2	nonsynonymous SNV	exon6	c.C521T	p.P174L	KDFAILRFHAGPPYEDIAFKIVNRE	KDFAILRFHAGPLYEDIAFKIVNRE	9.0	10.0	-	-	4253_19:3612054-3612054 G>A_KDFAILRFHAGPLYEDIAFKIVNRE
20:45242264-45242264 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1713587,COSM1713588;OCCURENCE=1(skin)	-	SLC13A3	NM_001193339,p.P71L|ENST00000495082,p.P24L|ENST00000290317,p.P24L|uc010zxw.2,p.P71L|NM_001011554,p.P24L|NM_022829,p.P71L|ENST00000339636,p.P71L|ENST00000396360,p.P24L|ENST00000279027,p.P71L|uc002xsg.2,p.P24L|NM_001193340,p.P24L|uc002xsf.2,p.P71L|uc010ghn.2,p.P40L|ENST00000417157,p.P24L|uc002xsi.4,p.P24L|ENST00000472148,p.P24L|ENST00000420568,p.P34L|ENST00000468915,p.P24L|ENST00000413164,p.P71L|uc010gho.2,p.P24L|ENST00000372121,p.P71L	protein_coding, processed_transcript	uc010zxw.2	nonsynonymous SNV	exon2	c.C212T	p.P71L	LSVTALLPIVLFPFMGILPSNKVCP	LSVTALLPIVLFLFMGILPSNKVCP	5.0	4.0	unscreened	-	4253_20:45242264-45242264 G>A_LSVTALLPIVLFLFMGILPSNKVCP
17:11608474-11608474 C>T	0.0	4253	MELANOMA	-	-	-	-	DNAH9	ENST00000454412,p.R1842C|ENST00000262442,p.R1842C|NM_001372,p.R1842C|uc002gne.3,p.R1842C|uc010coo.3,p.R1136C	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon14	c.C3406T	p.R1136C	FLYSYEYLGNTPRLVITPLTDRCYI	FLYSYEYLGNTPCLVITPLTDRCYI	7.0	5.0	unscreened	-	4253_17:11608474-11608474 C>T_FLYSYEYLGNTPCLVITPLTDRCYI
11:107673871-107673871 G>A	1.0	4253	MELANOMA	-	-	ID=COSM378989;OCCURENCE=1(lung),1(endometrium)	-	SLC35F2	ENST00000532513,p.R248C	protein_coding, nonsense_mediated_decay	ENST00000532513	nonsynonymous SNV	exon6	c.C742T	p.R248C	GTIISGIQLPAVRGICPVYVLPVQL	GTIISGIQLPAVCGICPVYVLPVQL	7.0	1.0	-	-	4253_11:107673871-107673871 G>A_GTIISGIQLPAVCGICPVYVLPVQL
5:74807635-74807635 G>A	0.0	4253	MELANOMA	-	-	-	-	COL4A3BP	NM_001130105,p.P12L|uc003kdt.3,p.P12L|ENST00000380494,p.P12L	protein_coding, processed_transcript	uc003kdt.3	nonsynonymous SNV	exon1	c.C35T	p.P12L	MQHSCIPTPPSPFSAPPAFLPVVT	MQHSCIPTPPSLFSAPPAFLPVVT	9.0	4.0	-	-	4253_5:74807635-74807635 G>A_MQHSCIPTPPSLFSAPPAFLPVVT
6:41613945-41613945 C>T	1.0	4253	MELANOMA	-	-	-	-	MDFI	ENST00000432027,p.S53F|uc010jxn.3,p.S53F|ENST00000419164,p.S53F|ENST00000373051,p.S53F|uc003oqq.4,p.S53F|NM_005586,p.S53F|NM_001300804,p.S53F|ENST00000230321,p.S53F|NM_001300806,p.S53F|ENST00000446650,p.S53F|ENST00000441667,p.S53F	retained_intron, protein_coding	uc010jxn.3	nonsynonymous SNV	exon2	c.C158T	p.S53F	STHPAEAAPEEGSLEEAATPMPQGN	STHPAEAAPEEGFLEEAATPMPQGN	9.0	3.0	unscreened	-	4253_6:41613945-41613945 C>T_STHPAEAAPEEGFLEEAATPMPQGN
17:65184531-65184531 C>T	1.0	4253	MELANOMA	-	-	-	-	HELZ	uc002jfx.4,p.E356K|NM_014877,p.E356K|ENST00000417253,p.E356K|ENST00000358691,p.E356K|ENST00000579953,p.E356K|uc010wqk.2,p.E356K|ENST00000580168,p.E356K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010wqk.2	nonsynonymous SNV	exon12	c.G1066A	p.E356K	HYVYKVGIAFNTEIFGTFRQTIVFD	HYVYKVGIAFNTKIFGTFRQTIVFD	8.0	6.0	unscreened	-	4253_17:65184531-65184531 C>T_HYVYKVGIAFNTKIFGTFRQTIVFD
7:92199174-92199174 G>A	1.0	4253	MELANOMA	-	-	-	-	FAM133B	ENST00000427372,p.S181L|NM_001040057,p.S181L|ENST00000438306,p.S181L|uc022ahf.1,p.S191L|uc003umc.3,p.S191L|ENST00000494079,p.S88L|NM_001288584,p.S181L|ENST00000445716,p.S191L|NM_152789,p.S191L|uc003umb.3,p.S181L	retained_intron, protein_coding, nonsense_mediated_decay	uc022ahf.1	nonsynonymous SNV	exon9	c.C572T	p.S191L	KKRKMYSEDKPLSSESLSESEYIEE	KKRKMYSEDKPLLSESLSESEYIEE	10.0	3.0	unscreened	-	4253_7:92199174-92199174 G>A_KKRKMYSEDKPLLSESLSESEYIEE
17:57128649-57128649 C>T	1.0	4253	MELANOMA	-	-	-	-	TRIM37	NM_015294,p.D414N|ENST00000393065,p.D380N|NM_001005207,p.D414N|uc002ixa.4,p.D292N|ENST00000393066,p.D414N|ENST00000262294,p.D414N|uc002iwz.4,p.D414N|uc002iwy.4,p.D414N|ENST00000376149,p.D292N|uc010woc.2,p.D380N	retained_intron, protein_coding, nonsense_mediated_decay	uc010woc.2	nonsynonymous SNV	exon13	c.G1138A	p.D380N	QVRSPTFFQKSRDQHWYITQLEAAQ	QVRSPTFFQKSRNQHWYITQLEAAQ	8.0	5.0	unscreened	-	4253_17:57128649-57128649 C>T_QVRSPTFFQKSRNQHWYITQLEAAQ
5:42719263-42719263 G>A	1.0	4253	MELANOMA	-	-	-	-	GHR	uc021xya.1,p.V552I|ENST00000537449,p.V365I|uc021xxy.1,p.V552I|uc021xxz.1,p.V552I|uc021xxv.1,p.V559I|uc021xyd.1,p.V530I|uc021xxx.1,p.V552I|NM_001242402,p.V552I|uc021xxw.1,p.V552I|NM_001242460,p.V530I|uc003jmu.3,p.V552I|uc003jmt.3,p.V552I|NM_001242406,p.V552I|ENST00000230882,p.V552I|NM_001242399,p.V559I|uc003jmv.2,p.V552I|NM_001242405,p.V552I|NM_001242401,p.V552I|NM_001242400,p.V552I|ENST00000357703,p.V530I|uc011cpq.2,p.V365I|NM_001242404,p.V552I|NM_001242403,p.V552I|NM_000163,p.V552I	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xyd.1	nonsynonymous SNV	exon8	c.G1588A	p.V530I	AKKCIPVAPHIKVESHIQPSLNQED	AKKCIPVAPHIKIESHIQPSLNQED	5.0	6.0	unscreened	-	4253_5:42719263-42719263 G>A_AKKCIPVAPHIKIESHIQPSLNQED
1:11856438-11856438 G>A	1.0	4253	MELANOMA	-	-	-	-	MTHFR	ENST00000376592,p.P202L|ENST00000376585,p.P243L|NM_005957,p.P202L|uc001atc.2,p.P202L|uc001atb.1,p.P225L|ENST00000376583,p.P243L|ENST00000376590,p.P202L	protein_coding	uc001atc.2	nonsynonymous SNV	exon5	c.C605T	p.P202L	FDICVAGYPKGHPEAGSFEADLKHL	FDICVAGYPKGHLEAGSFEADLKHL	8.0	5.0	unscreened	-	4253_1:11856438-11856438 G>A_FDICVAGYPKGHLEAGSFEADLKHL
14:23393346-23393346 C>T	1.0	4253	MELANOMA	-	-	-	-	PRMT5	ENST00000553897,p.V372I|ENST00000397440,p.V245I|uc010tng.1,p.V355I|NM_006109,p.V416I|NM_001282953,p.V355I|ENST00000538452,p.V310I|uc010tnf.1,p.V310I|uc001whm.1,p.V416I|uc001whl.1,p.V399I|ENST00000216350,p.V355I|uc001whn.1,p.V245I|uc010tnh.1,p.V372I|NM_001282956,p.V245I|NM_001039619,p.V399I|ENST00000397441,p.V399I|ENST00000555454,p.V15I|ENST00000324366,p.V416I|NM_001282954,p.V310I|NM_001282955,p.V372I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, ambiguous_orf	uc010tnh.1	nonsynonymous SNV	exon11	c.G1114A	p.V372I	WQFEEWGSQVTVVSSDMREWVAPEK	WQFEEWGSQVTVISSDMREWVAPEK	10.0	9.0	unscreened	-	4253_14:23393346-23393346 C>T_WQFEEWGSQVTVISSDMREWVAPEK
8:28209217-28209217 G>A	1.0	4253	MELANOMA	-	-	-	-	ZNF395	ENST00000344423,p.T343I|NM_018660,p.T343I|uc003xgt.4,p.T343I|uc003xgs.3,p.T343I|uc003xgr.3,p.T343I|uc003xgq.3,p.T343I|ENST00000523095,p.T343I|ENST00000523202,p.T343I	retained_intron, protein_coding, processed_transcript	uc003xgt.4	nonsynonymous SNV	exon13	c.C1028T	p.T343I	ESAAAAAAAAAGTPVPGTPTSEPAP	ESAAAAAAAAAGIPVPGTPTSEPAP	10.0	1.0	unscreened	-	4253_8:28209217-28209217 G>A_ESAAAAAAAAAGIPVPGTPTSEPAP
2:209190131-209190131 T>A	0.0	4253	MELANOMA	-	-	-	-	PIKFYVE	uc002vcy.1,p.S810T|ENST00000452564,p.S810T|uc002vcz.3,p.S866T|uc010fun.1,p.S547T|ENST00000264380,p.S866T|NM_015040,p.S866T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fun.1	nonsynonymous SNV	exon19	c.T1639A	p.S547T	EILIFMICVAYHSQLEISFLMDEFA	EILIFMICVAYHTQLEISFLMDEFA	6.0	8.0	unscreened	-	4253_2:209190131-209190131 T>A_EILIFMICVAYHTQLEISFLMDEFA
14:47342702-47342702 G>A	1.0	4253	MELANOMA	-	-	-	-	MDGA2	NM_182830,p.P598S|ENST00000357362,p.P598S|ENST00000439988,p.P827S|uc001wwh.4,p.P29S|ENST00000399232,p.P896S|ENST00000399222,p.P29S|uc010ani.3,p.P387S|ENST00000426342,p.P598S|uc001wwi.4,p.P598S|NM_001113498,p.P827S|uc001wwj.4,p.P896S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ani.3	nonsynonymous SNV	exon14	c.C1159T	p.P387S	LLSPVFSIAPKNPYGPTNTAYCFSF	LLSPVFSIAPKNSYGPTNTAYCFSF	7.0	10.0	unscreened	-	4253_14:47342702-47342702 G>A_LLSPVFSIAPKNSYGPTNTAYCFSF
15:68695360-68695360 C>T	1.0	4253	MELANOMA	-	-	-	-	ITGA11	ENST00000315757,p.D21N|uc002ari.3,p.D21N|uc010bib.3,p.D21N|ENST00000423218,p.D21N|NM_001004439,p.D21N	retained_intron, protein_coding, processed_transcript	uc010bib.3	nonsynonymous SNV	exon2	c.G61A	p.D21N	VAWALSLWPGFTDTFNMDTRKPRVI	VAWALSLWPGFTNTFNMDTRKPRVI	6.0	9.0	unscreened	-	4253_15:68695360-68695360 C>T_VAWALSLWPGFTNTFNMDTRKPRVI
X:48839762-48839762 G>A	1.0	4253	MELANOMA	-	-	-	-	GRIPAP1	ENST00000376425,p.R424C|ENST00000376423,p.R402C|NM_020137,p.R455C|ENST00000376441,p.R455C|ENST00000376444,p.R410C|uc004dma.3,p.R402C|uc004dly.1,p.R455C|uc004dlz.3,p.R345C	protein_coding, processed_transcript	uc004dma.3	nonsynonymous SNV	exon15	c.C1204T	p.R402C	EKSQHKEELGAVRLRHEKEVLGVRA	EKSQHKEELGAVCLRHEKEVLGVRA	8.0	10.0	unscreened	-	4253_X:48839762-48839762 G>A_EKSQHKEELGAVCLRHEKEVLGVRA
5:10426547-10426547 C>T	1.0	4253	MELANOMA	-	-	-	-	MARCH6	ENST00000449913,p.R759C|NM_005885,p.R807C|NM_001270661,p.R702C|uc011cmv.2,p.R702C|uc011cmu.2,p.R759C|uc003jet.2,p.R807C|ENST00000503788,p.R702C|ENST00000274140,p.R807C|uc003jeu.2,p.R505C|NM_001270660,p.R759C|ENST00000510792,p.R505C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmv.2	nonsynonymous SNV	exon21	c.C2104T	p.R702C	NGIRNIDLHYIVRKLAAPVISVLLL	NGIRNIDLHYIVCKLAAPVISVLLL	8.0	5.0	unscreened	-	4253_5:10426547-10426547 C>T_NGIRNIDLHYIVCKLAAPVISVLLL
12:44782277-44782277 C>T	1.0	4253	MELANOMA	-	-	-	-	TMEM117	uc001rod.3,p.S456L|ENST00000536799,p.S352L|uc001roe.3,p.S352L|NM_001286212,p.S352L|NM_032256,p.S456L|ENST00000266534,p.S456L|NM_001286213,p.S312L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001roe.3	nonsynonymous SNV	exon7	c.C1055T	p.S352L	KDMGITRENTQASVEDPLNDPSLVC	KDMGITRENTQALVEDPLNDPSLVC	7.0	8.0	unscreened	-	4253_12:44782277-44782277 C>T_KDMGITRENTQALVEDPLNDPSLVC
1:118628626-118628626 G>A	0.0	4253	MELANOMA	-	-	-	-	SPAG17	ENST00000336338,p.L561F|uc001ehk.2,p.L561F|NM_206996,p.L561F	protein_coding, processed_transcript	uc001ehk.2	nonsynonymous SNV	exon13	c.C1681T	p.L561F	QEMQSKLPLWEFLQFPLPPPWNNTK	QEMQSKLPLWEFFQFPLPPPWNNTK	8.0	9.0	unscreened	-	4253_1:118628626-118628626 G>A_QEMQSKLPLWEFFQFPLPPPWNNTK
16:18860604-18860604 G>A	1.0	4253	MELANOMA	-	-	-	-	SMG1	uc021ted.1,p.P151L|uc010bwa.3,p.P584L|ENST00000389467,p.P1853L|uc010bwb.3,p.P1713L|uc002dfm.3,p.P1853L|NM_015092,p.P1853L|ENST00000565324,p.P1743L|ENST00000446231,p.P1853L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ted.1	nonsynonymous SNV	exon3	c.C452T	p.P151L	ICNLLCRVAQDSPHLILYPAIVGTI	ICNLLCRVAQDSLHLILYPAIVGTI	7.0	7.0	unscreened	-	4253_16:18860604-18860604 G>A_ICNLLCRVAQDSLHLILYPAIVGTI
14:57114016-57114016 A>G	1.0	4253	MELANOMA	-	-	-	-	TMEM260	NM_017799,p.N642S|ENST00000261556,p.N642S|ENST00000536419,p.N176S|uc001xco.3,p.N175S|uc001xcm.3,p.N642S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xco.3	nonsynonymous SNV	exon8	c.A524G	p.N175S	YLQKEHPVNWHKNYAIACERMLRLQ	YLQKEHPVNWHKSYAIACERMLRLQ	8.0	9.0	unscreened	-	4253_14:57114016-57114016 A>G_YLQKEHPVNWHKSYAIACERMLRLQ
2:63272233-63272233 G>A	1.0	4253	MELANOMA	-	-	ID=COSM193819;OCCURENCE=1(large_intestine),1(endometrium)	-	EHBP1	uc021vil.2,p.S103L|uc002scc.4,p.S103L	retained_intron, protein_coding, processed_transcript	uc021vil.2	nonsynonymous SNV	exon4	c.C308T	p.S103L	FTRATSSSSRSCSRRFWASVFCQSA	FTRATSSSSRSCLRRFWASVFCQSA	8.0	2.0	unscreened	-	4253_2:63272233-63272233 G>A_FTRATSSSSRSCLRRFWASVFCQSA
6:12125139-12125139 T>A	0.0	4253	MELANOMA	-	-	-	-	HIVEP1	uc003nac.3,p.F1704Y|NM_002114,p.F1704Y|ENST00000379388,p.F1704Y	protein_coding, nonsense_mediated_decay	uc003nac.3	nonsynonymous SNV	exon4	c.T5111A	p.F1704Y	GHQNALPNPEKEFLCENVFSEMSQN	GHQNALPNPEKEYLCENVFSEMSQN	7.0	2.0	unscreened	-	4253_6:12125139-12125139 T>A_GHQNALPNPEKEYLCENVFSEMSQN
6:30658017-30658017 G>A	1.0	4253	MELANOMA	-	-	-	-	NRM	NM_001270707,p.A46V|ENST00000259953,p.A46V|NM_001270709,p.A46V|uc031sng.1,p.A46V|NM_001270708,p.A46V|NM_007243,p.A46V|uc031snj.1,p.A46V|ENST00000376421,p.A46V|uc031snh.1,p.A46V|uc003nrc.4,p.A46V|ENST00000376420,p.A46V	protein_coding, processed_transcript	uc031snj.1	nonsynonymous SNV	exon2	c.C137T	p.A46V	LLGGIPESGGPDARQGWLAALQDRS	LLGGIPESGGPDVRQGWLAALQDRS	10.0	5.0	-	-	4253_6:30658017-30658017 G>A_LLGGIPESGGPDVRQGWLAALQDRS
11:108098576-108098576 C>T	1.0	4253	MELANOMA	-	-	-	1	ATM	NM_000051,p.S49F|ENST00000278616,p.S49F|uc009yxr.1,p.S49F|ENST00000601453,p.S49F|ENST00000532931,p.S49F|uc001pkc.1,p.S49F|ENST00000527805,p.S49F|ENST00000527891,p.S49F|ENST00000452508,p.S49F|uc001pkb.1,p.S49F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yxr.1	nonsynonymous SNV	exon4	c.C146T	p.S49F	PETIKHLDRHSDSKQGKYLNWDAVF	PETIKHLDRHSDFKQGKYLNWDAVF	8.0	3.0	-	-	4253_11:108098576-108098576 C>T_PETIKHLDRHSDFKQGKYLNWDAVF
1:112043020-112043020 G>A	0.0	4253	MELANOMA	-	-	-	-	ADORA3	uc001ebh.4,p.S170F|NM_000677,p.S170F|ENST00000241356,p.S170F	protein_coding, processed_transcript	uc001ebh.4	nonsynonymous SNV	exon2	c.C509T	p.S170F	HRNVTFLSCQFVSVMRMDYMVYFSF	HRNVTFLSCQFVFVMRMDYMVYFSF	9.0	8.0	-	-	4253_1:112043020-112043020 G>A_HRNVTFLSCQFVFVMRMDYMVYFSF
X:50094333-50094333 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1714967;OCCURENCE=1(skin)	-	CCNB3	NM_033031,p.D1352N|uc004dox.4,p.D1352N|uc004doz.3,p.D248N|uc004dpa.3,p.D191N|ENST00000376042,p.D1352N|uc010njq.3,p.D244N|ENST00000376038,p.D248N|NM_033670,p.D248N|ENST00000348603,p.D248N|ENST00000276014,p.D1352N|uc004doy.3,p.D1352N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010njq.3	nonsynonymous SNV	exon10	c.G730A	p.D244N	RQLNKLLTFSSYDSLKAVYYKYSHP	RQLNKLLTFSSYNSLKAVYYKYSHP	5.0	10.0	-	-	4253_X:50094333-50094333 G>A_RQLNKLLTFSSYNSLKAVYYKYSHP
1:16770167-16770167 C>T	1.0	4253	MELANOMA	-	-	-	-	NECAP2	uc001ayq.3,p.R45W|uc010ocd.2,p.R19W|ENST00000459640,p.R45W|uc001ayo.3,p.R45W|ENST00000504858,p.R45W|ENST00000457722,p.R19W|NM_001145277,p.R45W|ENST00000337132,p.R45W|NM_018090,p.R45W|ENST00000443980,p.R45W|ENST00000406746,p.R45W|NM_001145278,p.R19W|ENST00000492095,p.R45W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ocd.2	nonsynonymous SNV	exon2	c.C55T	p.R19W	AEWQLDQPSWSGRLRITAKGQMAYI	AEWQLDQPSWSGWLRITAKGQMAYI	9.0	4.0	-	-	4253_1:16770167-16770167 C>T_AEWQLDQPSWSGWLRITAKGQMAYI
1:249142075-249142075 G>A	1.0	4253	MELANOMA	-	-	-	-	ZNF672	uc001iex.3,p.C201Y|ENST00000306562,p.C201Y|uc021pme.1,p.C201Y|NM_024836,p.C201Y	protein_coding, processed_transcript	uc021pme.1	nonsynonymous SNV	exon1	c.G602A	p.C201Y	SPTRPRVSDAHQCGVCGKCFGKSST	SPTRPRVSDAHQYGVCGKCFGKSST	8.0	4.0	unscreened	-	4253_1:249142075-249142075 G>A_SPTRPRVSDAHQYGVCGKCFGKSST
1:55600010-55600010 T>A	0.0	4253	MELANOMA	-	-	-	-	USP24	ENST00000294383,p.E1093V|ENST00000407756,p.E933V|uc001cyg.4,p.E927V|NM_015306,p.E1093V|uc021onw.1,p.E1093V	retained_intron, protein_coding, processed_transcript	uc021onw.1	nonsynonymous SNV	exon29	c.A3278T	p.E1093V	NVFDMLYQLANLEEPRITLRVRKLL	NVFDMLYQLANLVEPRITLRVRKLL	8.0	7.0	-	-	4253_1:55600010-55600010 T>A_NVFDMLYQLANLVEPRITLRVRKLL
8:99961391-99961391 G>A	1.0	4253	MELANOMA	-	-	-	-	OSR2	ENST00000520951,p.E124K|ENST00000297565,p.E71K|uc003yiq.3,p.E71K|NM_001142462,p.E71K|NM_001286841,p.E192K|ENST00000523368,p.E71K|NM_053001,p.E71K|ENST00000518199,p.E71K|uc003yir.3,p.E71K|ENST00000457907,p.E192K|uc010mbn.2,p.E71K|ENST00000522510,p.E71K|uc011lgx.2,p.E192K|ENST00000435298,p.E71K	protein_coding, processed_transcript	uc011lgx.2	nonsynonymous SNV	exon3	c.G574A	p.E192K	PNVHEITRSTITEMAAAQGLVDARF	PNVHEITRSTITKMAAAQGLVDARF	6.0	7.0	unscreened	-	4253_8:99961391-99961391 G>A_PNVHEITRSTITKMAAAQGLVDARF
6:99729131-99729131 G>A	1.0	4253	MELANOMA	-	-	-	-	FAXC	ENST00000389677,p.S380F|uc003ppi.4,p.S100F|ENST00000538471,p.S100F|NM_032511,p.S380F|uc003ppj.4,p.S380F	protein_coding, processed_transcript	uc003ppj.4	nonsynonymous SNV	exon6	c.C1139T	p.S380F	ETFEDEGAENSFSRTPDTDFTGHSL	ETFEDEGAENSFFRTPDTDFTGHSL	8.0	10.0	unscreened	-	4253_6:99729131-99729131 G>A_ETFEDEGAENSFFRTPDTDFTGHSL
14:74062185-74062185 C>T	1.0	4253	MELANOMA	-	-	ID=COSM1707588;OCCURENCE=1(skin)	-	ACOT4	ENST00000326303,p.P365S|NM_152331,p.P365S|uc001xoo.3,p.P365S	protein_coding	uc001xoo.3	nonsynonymous SNV	exon3	c.C1093T	p.P365S	ICYPGTGHYIEPPYFPLCPASLHRL	ICYPGTGHYIEPSYFPLCPASLHRL	8.0	2.0	unscreened	-	4253_14:74062185-74062185 C>T_ICYPGTGHYIEPSYFPLCPASLHRL
17:34097113-34097113 C>T	0.0	4253	MELANOMA	-	-	-	-	MMP28	uc002hjy.1,p.D274N	protein_coding, nonsense_mediated_decay	uc002hjy.1	nonsynonymous SNV	exon6	c.G820A	p.D274N	YKRLGRDALLSWDDVLAVQSLYGKP	YKRLGRDALLSWNDVLAVQSLYGKP	5.0	1.0	unscreened	-	4253_17:34097113-34097113 C>T_YKRLGRDALLSWNDVLAVQSLYGKP
12:81799574-81799574 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1364518;OCCURENCE=1(large_intestine)	-	PPFIA2	ENST00000333447,p.H234Y|NM_001220475,p.H252Y|ENST00000549325,p.H234Y|uc031qip.1,p.H252Y|NM_001220473,p.H252Y|ENST00000550584,p.H252Y|ENST00000550359,p.H99Y|uc031qik.1,p.H178Y|ENST00000549396,p.H252Y|uc031qiu.1,p.H178Y|uc031qil.1,p.H153Y|NM_001220477,p.H178Y|NM_001282536,p.H99Y|uc010sue.2,p.H152Y|uc031qix.1,p.H252Y|uc031qis.1,p.H252Y|NM_001220474,p.H234Y|uc031qiy.1,p.H252Y|uc031qiv.1,p.H153Y|uc031qin.1,p.H234Y|NM_001220478,p.H153Y|uc031qir.1,p.H252Y|uc031qiq.1,p.H234Y|NM_001220476,p.H252Y|uc031qiw.1,p.H252Y|NM_003625,p.H252Y|ENST00000443686,p.H153Y|ENST00000407050,p.H178Y|ENST00000548586,p.H252Y|uc031qim.1,p.H252Y|uc031qio.1,p.H252Y|ENST00000552948,p.H252Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiy.1	nonsynonymous SNV	exon6	c.C754T	p.H252Y	EHLEGMEPGQKVHEKRLSNGSIDST	EHLEGMEPGQKVYEKRLSNGSIDST	5.0	2.0	unscreened	-	4253_12:81799574-81799574 G>A_EHLEGMEPGQKVYEKRLSNGSIDST
6:26637925-26637925 T>G	1.0	4253	MELANOMA	-	-	-	-	ZNF322	uc021ynx.1,p.Q286P|ENST00000415922,p.Q286P|NM_024639,p.Q286P|NM_001242797,p.Q286P|ENST00000471278,p.Q286P|uc021yny.1,p.Q286P|uc003nil.4,p.Q286P|NM_001242799,p.Q286P|NM_001242798,p.Q286P|uc021ynz.1,p.Q286P|uc021yoa.1,p.Q286P	protein_coding, processed_transcript	uc021yoa.1	nonsynonymous SNV	exon1	c.A857C	p.Q286P	RSFTRSANLIRHQATHTHTFKCLEY	RSFTRSANLIRHPATHTHTFKCLEY	7.0	4.0	unscreened	-	4253_6:26637925-26637925 T>G_RSFTRSANLIRHPATHTHTFKCLEY
11:34991704-34991704 C>T	1.0	4253	MELANOMA	-	-	-	-	PDHX	ENST00000227868,p.P279S|NM_003477,p.P279S|uc001mvt.3,p.P279S|NM_001135024,p.P264S|uc010rep.2,p.P264S|ENST00000448838,p.P264S	retained_intron, protein_coding, processed_transcript	uc010rep.2	nonsynonymous SNV	exon7	c.C790T	p.P264S	GQPNAVGTFTEIPASNIRRVIAKRL	GQPNAVGTFTEISASNIRRVIAKRL	8.0	8.0	unscreened	-	4253_11:34991704-34991704 C>T_GQPNAVGTFTEISASNIRRVIAKRL
12:12315304-12315304 T>G	0.0	4253	MELANOMA	-	-	-	-	LRP6	uc001rah.4,p.E701A|ENST00000261349,p.E701A|uc010shl.1,p.E701A|NM_002336,p.E701A|ENST00000543091,p.E701A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010shl.1	nonsynonymous SNV	exon10	c.A2102C	p.E701A	AFMNGSALEHVVEFGLDYPEGMAVD	AFMNGSALEHVVAFGLDYPEGMAVD	7.0	10.0	unscreened	-	4253_12:12315304-12315304 T>G_AFMNGSALEHVVAFGLDYPEGMAVD
16:71171237-71171237 G>A	0.0	4253	MELANOMA	-	-	-	-	HYDIN	uc031qwy.1,p.S287F|ENST00000393567,p.S287F|ENST00000288168,p.S304F|ENST00000448691,p.S287F|uc010cfz.2,p.S32F|NM_001198543,p.S304F|uc010vmc.2,p.S304F|NM_017558,p.S287F|ENST00000538248,p.S314F|ENST00000448089,p.S287F|uc002ezw.4,p.S304F|uc010vmd.2,p.S314F|uc021tkq.2,p.S287F|NM_001270974,p.S287F|ENST00000545230,p.S75F|ENST00000321489,p.S287F|NM_001198542,p.S314F|ENST00000541601,p.S304F|ENST00000393550,p.S287F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon8	c.C860T	p.S287F	IVCYDTGEKVFVSLYGAAIDMNIRL	IVCYDTGEKVFVFLYGAAIDMNIRL	6.0	1.0	unscreened	-	4253_16:71171237-71171237 G>A_IVCYDTGEKVFVFLYGAAIDMNIRL
12:69263147-69263147 G>A	0.0	4253	MELANOMA	-	-	-	-	CPM	NM_001874,p.P249S|ENST00000546373,p.P249S|NM_001005502,p.P249S|ENST00000338356,p.P249S|NM_198320,p.P249S|uc001suq.3,p.P249S|uc001sup.3,p.P249S|ENST00000551568,p.P249S|uc001sur.3,p.P249S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sur.3	nonsynonymous SNV	exon6	c.C745T	p.P249S	KKGDECKNKMNFPNGVTNGYSWYPL	KKGDECKNKMNFSNGVTNGYSWYPL	7.0	3.0	unscreened	-	4253_12:69263147-69263147 G>A_KKGDECKNKMNFSNGVTNGYSWYPL
1:110466667-110466667 C>T	1.0	4253	MELANOMA	-	-	-	-	CSF1	NM_000757,p.P475L|ENST00000329608,p.P475L|uc001dyu.2,p.P475L|uc001dyw.4,p.P475L|ENST00000369802,p.P475L|NM_172212,p.P475L	protein_coding, processed_transcript	uc001dyw.4	nonsynonymous SNV	exon6	c.C1424T	p.P475L	GAARPLPRFNSVPLTDTGHERQSEG	GAARPLPRFNSVLLTDTGHERQSEG	8.0	8.0	-	-	4253_1:110466667-110466667 C>T_GAARPLPRFNSVLLTDTGHERQSEG
11:118770124-118770124 G>A	1.0	4253	MELANOMA	-	-	-	1	BCL9L	uc001pug.3,p.S1167F|NM_182557,p.S1167F|uc009zal.3,p.S1162F|ENST00000334801,p.S1167F	protein_coding, processed_transcript	uc009zal.3	nonsynonymous SNV	exon8	c.C3485T	p.S1162F	PMGMNLPGQQPLSHEPPPAMLPSPT	PMGMNLPGQQPLFHEPPPAMLPSPT	7.0	2.0	unscreened	-	4253_11:118770124-118770124 G>A_PMGMNLPGQQPLFHEPPPAMLPSPT
7:5401531-5401531 G>A	1.0	4253	MELANOMA	-	-	-	-	TNRC18	ENST00000440081,p.S43F	retained_intron, protein_coding	ENST00000440081	nonsynonymous SNV	exon1	c.C128T	p.S43F	QRELVKLQRRRDSELSSKSLLTSDD	QRELVKLQRRRDFELSSKSLLTSDD	8.0	1.0	unscreened	-	4253_7:5401531-5401531 G>A_QRELVKLQRRRDFELSSKSLLTSDD
17:7230523-7230523 G>A	1.0	4253	MELANOMA	-	-	-	-	NEURL4	ENST00000573186,p.R30W|ENST00000399464,p.R252W|uc002ggb.1,p.R252W|NM_001005408,p.R252W|NM_032442,p.R252W|ENST00000315614,p.R252W|uc002gga.1,p.R252W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ggb.1	nonsynonymous SNV	exon3	c.C754T	p.R252W	ADEAFMVSPAQARPETFPNSLESHN	ADEAFMVSPAQAWPETFPNSLESHN	9.0	7.0	unscreened	-	4253_17:7230523-7230523 G>A_ADEAFMVSPAQAWPETFPNSLESHN
1:43827912-43827912 G>A	1.0	4253	MELANOMA	-	-	-	-	CDC20	NM_001255,p.G417D|ENST00000310955,p.G417D|ENST00000372462,p.G417D|uc001cix.3,p.G417D|uc001ciy.3,p.G417D	protein_coding, processed_transcript	uc001ciy.3	nonsynonymous SNV	exon9	c.G1250A	p.G417D	ILWSPHYKELISGHGFAQNQLVIWK	ILWSPHYKELISDHGFAQNQLVIWK	10.0	8.0	unscreened	-	4253_1:43827912-43827912 G>A_ILWSPHYKELISDHGFAQNQLVIWK
19:40901294-40901294 G>A	0.0	4253	MELANOMA	-	-	-	-	PRX	uc002onr.3,p.L989F|ENST00000324001,p.L989F|uc002onq.3,p.L850F|NM_181882,p.L989F	protein_coding, processed_transcript	uc002onr.3	nonsynonymous SNV	exon7	c.C2965T	p.L989F	AKGAGEAGLLPALDLSIPQLSLDAH	AKGAGEAGLLPAFDLSIPQLSLDAH	6.0	3.0	unscreened	-	4253_19:40901294-40901294 G>A_AKGAGEAGLLPAFDLSIPQLSLDAH
1:114442547-114442547 G>C	1.0	4253	MELANOMA	-	-	-	-	AP4B1	uc001edv.2,p.V64L	protein_coding, processed_transcript	uc001edv.2	nonsynonymous SNV	exon5	c.G190C	p.V64L	GADTYLWQRWQPVQSPQTHPCSTLE	GADTYLWQRWQPLQSPQTHPCSTLE	8.0	8.0	unscreened	-	4253_1:114442547-114442547 G>C_GADTYLWQRWQPLQSPQTHPCSTLE
12:6128824-6128824 G>A	0.0	4253	MELANOMA	-	-	-	-	VWF	ENST00000261405,p.P1254S|NM_000552,p.P1254S|uc001qnn.1,p.P1254S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001qnn.1	nonsynonymous SNV	exon28	c.C3760T	p.P1254S	GLVVPPTDAPVSPTTLYVEDISEPP	GLVVPPTDAPVSSTTLYVEDISEPP	7.0	8.0	unscreened	-	4253_12:6128824-6128824 G>A_GLVVPPTDAPVSSTTLYVEDISEPP
2:239147529-239147529 G>A	1.0	4253	MELANOMA	-	-	-	-	HES6	uc002vxz.3,p.P205L|NM_018645,p.P205L|ENST00000272937,p.P205L|ENST00000409182,p.P176L|ENST00000409002,p.P203L|uc002vya.3,p.P203L|NM_001142853,p.P203L	protein_coding	uc002vya.3	nonsynonymous SNV	exon4	c.C608T	p.P203L	LSQAPAEGPDLVPAALGSLTTAQIA	LSQAPAEGPDLVLAALGSLTTAQIA	8.0	9.0	unscreened	-	4253_2:239147529-239147529 G>A_LSQAPAEGPDLVLAALGSLTTAQIA
7:26396657-26396657 G>A	1.0	4253	MELANOMA	-	-	-	-	SNX10	ENST00000412416,p.M4I|ENST00000416246,p.M4I|ENST00000446848,p.M4I	protein_coding, processed_transcript	ENST00000446848	nonsynonymous SNV	exon3	c.G12A	p.M4I	MILMEGIGCMRHSSLT	MILIEGIGCMRHSSLT	9.0	1.0	unscreened	-	4253_7:26396657-26396657 G>A_MILIEGIGCMRHSSLT
19:38189217-38189227 AATAAGATGTG>-	0.0	4253	MELANOMA	-	-	-	-	ZNF607	ENST00000355202,p.S602fs|NM_032689,p.S602fs|NM_001172677,p.S601fs|uc002ohb.2,p.S601fs|uc002ohc.2,p.S602fs|ENST00000395835,p.S601fs	protein_coding, nonsense_mediated_decay	uc002ohc.2	frameshift deletion	exon5	c.1805_1815del	p.S602fs	ECKECGETFSHASHLIIHERIHTSD	ECKECGETFSHAYS	7.0	1.0	unscreened	-	4253_19:38189217-38189227 AATAAGATGTG>-_ECKECGETFSHAYS
7:82583851-82583851 C>T	0.0	4253	MELANOMA	-	-	-	-	PCLO	ENST00000423517,p.E2140K|uc003uhv.2,p.E2140K|ENST00000333891,p.E2140K|NM_014510,p.E2140K|uc003uhx.2,p.E2140K|NM_033026,p.E2140K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G6418A	p.E2140K	PDVKITQHFSTEEIEDEYVTDYTRE	PDVKITQHFSTEKIEDEYVTDYTRE	7.0	4.0	unscreened	-	4253_7:82583851-82583851 C>T_PDVKITQHFSTEKIEDEYVTDYTRE
2:196750959-196750959 G>A	0.0	4253	MELANOMA	-	-	-	-	DNAH7	uc002utj.4,p.S1815F|ENST00000312428,p.S1815F|NM_018897,p.S1815F	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon34	c.C5444T	p.S1815F	ELSPTSDTNLVRSLMNLIDCFMDDF	ELSPTSDTNLVRFLMNLIDCFMDDF	6.0	3.0	unscreened	-	4253_2:196750959-196750959 G>A_ELSPTSDTNLVRFLMNLIDCFMDDF
8:27964297-27964297 G>C	1.0	4253	MELANOMA	-	-	-	-	ELP3	uc011las.2,p.M11I|NM_001284224,p.M11I|ENST00000537665,p.M11I|uc011lat.2,p.M11I|NM_001284225,p.M11I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lat.2	nonsynonymous SNV	exon3	c.G33C	p.M11I	MSTHQFYRKYMCPTSMRAIRARY	MSTHQFYRKYICPTSMRAIRARY	9.0	1.0	unscreened	-	4253_8:27964297-27964297 G>C_MSTHQFYRKYICPTSMRAIRARY
2:113887224-113887224 C>T	0.0	4253	MELANOMA	-	-	-	-	IL1RN	NM_173843,p.P29L|uc002tja.3,p.P45L|uc002tjb.3,p.P63L|uc002tiy.3,p.P29L|ENST00000409930,p.P63L|NM_173842,p.P63L|ENST00000354115,p.P45L|ENST00000259206,p.P66L|NM_000577,p.P45L|ENST00000361779,p.P29L|uc002tiz.3,p.P66L|NM_173841,p.P66L|ENST00000409052,p.P29L	retained_intron, protein_coding, processed_transcript	uc002tjb.3	nonsynonymous SNV	exon2	c.C188T	p.P63L	RNNQLVAGYLQGPNVNLEEKIDVVP	RNNQLVAGYLQGLNVNLEEKIDVVP	6.0	6.0	unscreened	-	4253_2:113887224-113887224 C>T_RNNQLVAGYLQGLNVNLEEKIDVVP
3:184043105-184043105 A>G	1.0	4253	MELANOMA	-	-	-	-	EIF4G1	ENST00000427845,p.K883E|NM_001194946,p.K976E|ENST00000441154,p.K806E|uc010hxy.3,p.K976E|ENST00000382330,p.K976E|uc003fnp.3,p.K969E|ENST00000350481,p.K805E|ENST00000319274,p.K969E|ENST00000346169,p.K969E|uc010hxw.2,p.K805E|ENST00000342981,p.K970E|ENST00000435046,p.K773E|ENST00000434061,p.K774E|uc003fnv.4,p.K970E|ENST00000392537,p.K882E|NM_182917,p.K970E|NM_001291157,p.K929E|uc003fnt.3,p.K680E|uc003fnr.3,p.K805E|NM_198241,p.K969E|uc003fnq.3,p.K882E|NM_198242,p.K805E|NM_198244,p.K882E|uc003fnw.3,p.K976E|ENST00000352767,p.K976E|ENST00000424196,p.K976E|uc010hxx.3,p.K976E|ENST00000414031,p.K929E|uc003fns.3,p.K929E|NM_004953,p.K774E|NM_001194947,p.K976E|uc003fno.2,p.K910E|ENST00000411531,p.K930E|uc003fnx.3,p.K774E	retained_intron, protein_coding, nonsense_mediated_decay	uc010hxy.3	nonsynonymous SNV	exon19	c.A2926G	p.K976E	QYFNQMEKIIKEKKTSSRIRFMLQD	QYFNQMEKIIKEEKTSSRIRFMLQD	10.0	7.0	unscreened	-	4253_3:184043105-184043105 A>G_QYFNQMEKIIKEEKTSSRIRFMLQD
12:31854802-31854802 G>A	1.0	4253	MELANOMA	-	-	-	-	AMN1	ENST00000535408,p.S86L|uc001rkq.4,p.S104L|NM_001278411,p.S86L|ENST00000537562,p.S86L|uc001rko.4,p.S86L|uc010skc.2,p.S86L|NM_001113402,p.S104L|ENST00000536761,p.S86L|ENST00000281471,p.S104L|NM_001278412,p.S86L	protein_coding, processed_transcript	uc010skc.2	nonsynonymous SNV	exon5	c.C257T	p.S86L	LNASKGNRVSVTSEGIKAVASSCSY	LNASKGNRVSVTLEGIKAVASSCSY	7.0	1.0	unscreened	-	4253_12:31854802-31854802 G>A_LNASKGNRVSVTLEGIKAVASSCSY
14:93182545-93182545 G>T	1.0	4253	MELANOMA	-	-	-	-	LGMN	ENST00000334869,p.L114I|uc001yaw.3,p.L114I|uc001yat.3,p.L114I|NM_005606,p.L114I|uc001yau.3,p.L114I|ENST00000557434,p.L114I|NM_001008530,p.L114I|ENST00000556097,p.L114I|ENST00000553802,p.L105I|ENST00000393218,p.L114I|uc001yav.3,p.L114I|ENST00000555699,p.L114I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001yaw.3	nonsynonymous SNV	exon5	c.C340A	p.L114I	DYTGEDVTPQNFLAVLRGDAEAVKG	DYTGEDVTPQNFIAVLRGDAEAVKG	10.0	1.0	unscreened	-	4253_14:93182545-93182545 G>T_DYTGEDVTPQNFIAVLRGDAEAVKG
19:12155074-12155074 G>A	1.0	4253	MELANOMA	-	-	-	-	ZNF878	ENST00000547628,p.S381F|uc021upl.1,p.S381F|ENST00000602107,p.S428F|NM_001080404,p.S381F	protein_coding	uc021upl.1	nonsynonymous SNV	exon4	c.C1142T	p.S381F	CKQCGKTFTSSNSFHYHERTHTGEK	CKQCGKTFTSSNFFHYHERTHTGEK	4.0	10.0	unscreened	-	4253_19:12155074-12155074 G>A_CKQCGKTFTSSNFFHYHERTHTGEK
12:56650806-56650806 C>T	1.0	4253	MELANOMA	-	-	-	-	ANKRD52	ENST00000267116,p.R85Q|uc001skm.4,p.R85Q|NM_173595,p.R85Q	retained_intron, protein_coding, processed_transcript	uc001skm.4	nonsynonymous SNV	exon4	c.G254A	p.R85Q	LWLTPLHRAAASRNEKVLGLLLAHS	LWLTPLHRAAASQNEKVLGLLLAHS	8.0	4.0	unscreened	-	4253_12:56650806-56650806 C>T_LWLTPLHRAAASQNEKVLGLLLAHS
4:79387515-79387515 C>T	1.0	4253	MELANOMA	-	-	-	-	FRAS1	ENST00000264895,p.L2395F|NM_025074,p.L2395F|uc003hlb.2,p.L2395F	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlb.2	nonsynonymous SNV	exon50	c.C7183T	p.L2395F	NRVSYSHDGSNSLKDRFTFTVSDGT	NRVSYSHDGSNSFKDRFTFTVSDGT	6.0	5.0	unscreened	-	4253_4:79387515-79387515 C>T_NRVSYSHDGSNSFKDRFTFTVSDGT
1:144879284-144879284 G>A	0.0	4253	MELANOMA	-	-	ID=COSM423670,COSM3385123,COSM1472516;OCCURENCE=1(pancreas),1(breast)	1	PDE4DIP	uc021ouh.1,p.S1389L|uc001elx.4,p.S1345L|uc001elw.4,p.S1389L|ENST00000369356,p.S1389L|uc001elv.4,p.S396L|ENST00000369354,p.S1389L|ENST00000313382,p.S1345L|ENST00000369359,p.S1525L|ENST00000530740,p.S1525L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ouh.1	nonsynonymous SNV	exon27	c.C4166T	p.S1389L	SRVRSLSVTSDYSSSLERPWKLRAV	SRVRSLSVTSDYLSSLERPWKLRAV	9.0	1.0	unscreened	-	4253_1:144879284-144879284 G>A_SRVRSLSVTSDYLSSLERPWKLRAV
19:50918727-50918727 A>G	1.0	4253	MELANOMA	-	-	-	1	POLD1	ENST00000440232,p.D866G|ENST00000595904,p.D892G|uc002psb.5,p.D866G|NM_002691,p.D866G|uc002psc.5,p.D866G|NM_001256849,p.D866G|uc010eny.4,p.D892G|ENST00000600859,p.D866G|ENST00000599857,p.D866G	retained_intron, protein_coding, nonsense_mediated_decay	uc010eny.4	nonsynonymous SNV	exon20	c.A2675G	p.D892G	DRDPEGAVAHAQDVISDLLCNRIDI	DRDPEGAVAHAQGVISDLLCNRIDI	9.0	4.0	unscreened	-	4253_19:50918727-50918727 A>G_DRDPEGAVAHAQGVISDLLCNRIDI
2:32855619-32855619 G>A	1.0	4253	MELANOMA	-	-	-	-	TTC27	NM_017735,p.E40K|ENST00000317907,p.E40K|uc002rom.3,p.E40K	protein_coding, nonsense_mediated_decay	uc002rom.3	nonsynonymous SNV	exon2	c.G118A	p.E40K	GSESGSFLQLLLEGNYEAIFLNSMT	GSESGSFLQLLLKGNYEAIFLNSMT	7.0	7.0	unscreened	-	4253_2:32855619-32855619 G>A_GSESGSFLQLLLKGNYEAIFLNSMT
21:10916418-10916418 G>A	1.0	4253	MELANOMA	-	-	-	-	TPTE	NM_001290224,p.P272S|NM_199259,p.P392S|uc002yiq.1,p.P392S|uc010gkv.1,p.P272S|ENST00000361285,p.P410S|uc002yir.1,p.P372S|ENST00000342420,p.P372S|uc002yip.1,p.P410S|ENST00000298232,p.P392S|NM_199260,p.P372S|NM_199261,p.P410S	protein_coding, processed_transcript	uc010gkv.1	nonsynonymous SNV	exon15	c.C814T	p.P272S	AQVKHLYNWNLPPRRILFIKHFIIY	AQVKHLYNWNLPSRRILFIKHFIIY	8.0	1.0	unscreened	-	4253_21:10916418-10916418 G>A_AQVKHLYNWNLPSRRILFIKHFIIY
2:189873852-189873852 G>A	1.0	4253	MELANOMA	-	-	-	2	COL3A1	ENST00000317840,p.G940E|NM_000090,p.G1243E|uc002uqj.1,p.G1243E|ENST00000304636,p.G1243E	retained_intron, protein_coding	uc002uqj.1	nonsynonymous SNV	exon48	c.G3728A	p.G1243E	TDEIMTSLKSVNGQIESLISPDGSR	TDEIMTSLKSVNEQIESLISPDGSR	10.0	9.0	unscreened	-	4253_2:189873852-189873852 G>A_TDEIMTSLKSVNEQIESLISPDGSR
6:27424670-27424670 G>A	1.0	4253	MELANOMA	-	-	-	-	ZNF184	uc003nji.3,p.S78F|NM_007149,p.S78F|uc003njj.3,p.S78F|uc010jqv.3,p.S78F|ENST00000211936,p.S78F|ENST00000377419,p.S78F	protein_coding	uc010jqv.3	nonsynonymous SNV	exon5	c.C233T	p.S78F	SIGLQVSKPDVISQLEQGTEPWIME	SIGLQVSKPDVIFQLEQGTEPWIME	7.0	2.0	unscreened	-	4253_6:27424670-27424670 G>A_SIGLQVSKPDVIFQLEQGTEPWIME
16:90001928-90001928 C>T	1.0	4253	MELANOMA	-	-	-	-	TUBB3	NM_006086,p.P357S|ENST00000556922,p.P704S|uc002fpf.2,p.P704S|uc002fpj.1,p.P285S|ENST00000315491,p.P357S|ENST00000304984,p.P285S|uc010ciz.1,p.P285S|uc002fph.2,p.P357S|NM_001197181,p.P285S|uc002fpk.1,p.P211S|ENST00000554444,p.P285S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ciz.1	nonsynonymous SNV	exon4	c.C853T	p.P285S	IPNNVKVAVCDIPPRGLKMSSTFIG	IPNNVKVAVCDISPRGLKMSSTFIG	10.0	5.0	unscreened	-	4253_16:90001928-90001928 C>T_IPNNVKVAVCDISPRGLKMSSTFIG
15:89382170-89382170 C>G	0.0	4253	MELANOMA	-	-	-	-	ACAN	ENST00000439576,p.A116G|ENST00000561243,p.A116G|uc010upo.1,p.A116G|uc010upp.1,p.A116G|uc002bmx.3,p.A116G|NM_001135,p.A116G|ENST00000558207,p.A116G|ENST00000352105,p.A116G|ENST00000559004,p.A116G|NM_013227,p.A116G	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon3	c.C347G	p.A116G	VSLPNYPAIPSDATLEVQSLRSNDS	VSLPNYPAIPSDGTLEVQSLRSNDS	9.0	2.0	-	-	4253_15:89382170-89382170 C>G_VSLPNYPAIPSDGTLEVQSLRSNDS
10:20335933-20335933 C>T	0.0	4253	MELANOMA	-	-	-	-	PLXDC2	uc001iqg.1,p.R154W|ENST00000377252,p.R154W|NM_032812,p.R154W	protein_coding	uc001iqg.1	nonsynonymous SNV	exon3	c.C460T	p.R154W	KVKIHGILSNTHRQAARVNLSFDFP	KVKIHGILSNTHWQAARVNLSFDFP	7.0	10.0	unscreened	-	4253_10:20335933-20335933 C>T_KVKIHGILSNTHWQAARVNLSFDFP
18:34802066-34802066 G>A	1.0	4253	MELANOMA	-	-	-	-	KIAA1328	ENST00000543923,p.G429E	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000543923	nonsynonymous SNV	exon9	c.G1286A	p.G429E	APKPQRYPSREAGAWNHVNLQEVSS	APKPQRYPSREAEAWNHVNLQEVSS	7.0	7.0	unscreened	-	4253_18:34802066-34802066 G>A_APKPQRYPSREAEAWNHVNLQEVSS
10:120877156-120877156 C>T	1.0	4253	MELANOMA	-	-	-	-	FAM45A	ENST00000535029,p.A153V	protein_coding, processed_transcript	ENST00000535029	nonsynonymous SNV	exon4	c.C458T	p.A153V	GSFLSKDFDARKAYLAGSIKGLCLP	GSFLSKDFDARKVYLAGSIKGLCLP	9.0	10.0	unscreened	-	4253_10:120877156-120877156 C>T_GSFLSKDFDARKVYLAGSIKGLCLP
7:94259126-94259126 G>A	1.0	4253	MELANOMA	-	-	-	-	SGCE	ENST00000265735,p.S46F|ENST00000445866,p.S46F|uc003unm.2,p.S46F|ENST00000428696,p.S46F|NM_001099400,p.S46F|ENST00000447873,p.S46F|uc003unn.2,p.S46F|NM_001099401,p.S46F|uc003unl.2,p.S46F|NM_003919,p.S46F	retained_intron, protein_coding, nonsense_mediated_decay	uc003unn.2	nonsynonymous SNV	exon2	c.C137T	p.S46F	LLTVYSIFSKVHSDRNVYPSAGVLF	LLTVYSIFSKVHFDRNVYPSAGVLF	9.0	4.0	unscreened	-	4253_7:94259126-94259126 G>A_LLTVYSIFSKVHFDRNVYPSAGVLF
7:94259126-94259126 G>A	1.0	4253	MELANOMA	-	-	-	-	SGCE	ENST00000415788,p.S82F|uc011kid.1,p.S82F	retained_intron, protein_coding, nonsense_mediated_decay	uc011kid.1	nonsynonymous SNV	exon3	c.C245T	p.S82F	MKDVYSIFSKVHSDRNVYPSAGVLF	MKDVYSIFSKVHFDRNVYPSAGVLF	9.0	4.0	unscreened	-	4253_7:94259126-94259126 G>A_MKDVYSIFSKVHFDRNVYPSAGVLF
18:5891641-5891641 G>A	1.0	4253	MELANOMA	-	-	-	-	TMEM200C	ENST00000581347,p.S141F|uc002kmx.1,p.S141F|ENST00000383490,p.S141F|NM_001080209,p.S141F	protein_coding	uc002kmx.1	nonsynonymous SNV	exon1	c.C422T	p.S141F	GAPRSTPPARAASPSSSSTSVGFFF	GAPRSTPPARAAFPSSSSTSVGFFF	6.0	6.0	-	-	4253_18:5891641-5891641 G>A_GAPRSTPPARAAFPSSSSTSVGFFF
1:225586243-225586243 G>A	1.0	4253	MELANOMA	-	-	-	-	DNAH14	NM_001373,p.G4403R|ENST00000445597,p.G3395R|uc001how.2,p.G4403R|ENST00000430092,p.G4403R|ENST00000439375,p.G4403R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon83	c.G13207A	p.G4403R	RRAFKGSASSHTGVYIFGLFIEGAR	RRAFKGSASSHTRVYIFGLFIEGAR	8.0	9.0	-	-	4253_1:225586243-225586243 G>A_RRAFKGSASSHTRVYIFGLFIEGAR
7:2770988-2770988 C>T	1.0	4253	MELANOMA	-	-	-	-	GNA12	NM_001293092,p.E308K|uc003smu.3,p.E325K|NM_001282440,p.E249K|ENST00000407653,p.E249K|ENST00000544127,p.E232K|NM_001282441,p.E266K|ENST00000275364,p.E325K|uc003smt.3,p.E266K|ENST00000396960,p.E177K|ENST00000407904,p.E266K|NM_007353,p.E325K|uc011jwb.2,p.E308K	protein_coding, processed_transcript	uc011jwb.2	nonsynonymous SNV	exon3	c.G922A	p.E308K	HFPDFRGDPHRLEDVQRYLVQCFDR	HFPDFRGDPHRLKDVQRYLVQCFDR	7.0	9.0	unscreened	-	4253_7:2770988-2770988 C>T_HFPDFRGDPHRLKDVQRYLVQCFDR
22:31484525-31484525 G>A	1.0	4253	MELANOMA	-	-	-	-	SMTN	ENST00000333137,p.R76Q|NM_001207017,p.R130Q|uc003ajn.2,p.R68Q|uc003ajk.2,p.R76Q|ENST00000347557,p.R76Q|uc003ajl.2,p.R76Q|uc011alf.2,p.R132Q|NM_006932,p.R76Q|ENST00000358743,p.R76Q|NM_001207018,p.R132Q|NM_134269,p.R76Q|ENST00000440425,p.R130Q|ENST00000431481,p.R68Q|uc003ajm.2,p.R76Q|uc011ale.2,p.R130Q|NM_134270,p.R76Q	retained_intron, protein_coding, processed_transcript	uc011alf.2	nonsynonymous SNV	exon3	c.G395A	p.R132Q	NWLHSQQREAEQRAALARLAGQLES	NWLHSQQREAEQQAALARLAGQLES	10.0	10.0	unscreened	-	4253_22:31484525-31484525 G>A_NWLHSQQREAEQQAALARLAGQLES
1:897408-897408 T>C	1.0	4253	MELANOMA	-	-	-	-	KLHL17	uc010nya.1,p.M107T|uc001acb.1,p.M107T	retained_intron, protein_coding, nonsense_mediated_decay	uc010nya.1	nonsynonymous SNV	exon2	c.T320C	p.M107T	QHFVDVAKTEEFMLLPLKQVTAGGP	QHFVDVAKTEEFTLLPLKQVTAGGP	8.0	4.0	unscreened	-	4253_1:897408-897408 T>C_QHFVDVAKTEEFTLLPLKQVTAGGP
19:17837320-17837320 C>T	0.0	4253	MELANOMA	-	-	-	-	MAP1S	uc010xpv.1,p.P350L|NM_018174,p.P376L|ENST00000324096,p.P376L|ENST00000544059,p.P350L|uc002nhe.1,p.P376L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xpv.1	nonsynonymous SNV	exon5	c.C1049T	p.P350L	QLGITPLPLSRGPVPAKPTVLFEKM	QLGITPLPLSRGLVPAKPTVLFEKM	10.0	2.0	-	-	4253_19:17837320-17837320 C>T_QLGITPLPLSRGLVPAKPTVLFEKM
X:117079508-117079508 C>T	1.0	4253	MELANOMA	-	-	-	-	KLHL13	ENST00000262820,p.M43I|uc004eql.3,p.M43I|NM_033495,p.M43I	protein_coding	uc004eql.3	nonsynonymous SNV	exon2	c.G129A	p.M43I	AYISLVEEEDQHMKLSLGGSEMGLS	AYISLVEEEDQHIKLSLGGSEMGLS	6.0	10.0	unscreened	-	4253_X:117079508-117079508 C>T_AYISLVEEEDQHIKLSLGGSEMGLS
17:5462805-5462805 C>T	0.0	4253	MELANOMA	0.01	-	-	-	NLRP1	uc002gci.3,p.R404Q|ENST00000572272,p.R404Q|ENST00000571451,p.R404Q|NM_033004,p.R404Q|uc010clh.3,p.R404Q|ENST00000577119,p.R404Q|uc002gch.4,p.R404Q|ENST00000354411,p.R404Q|ENST00000269280,p.R404Q|ENST00000262467,p.R404Q|uc002gcl.3,p.R404Q|NM_033006,p.R404Q|uc002gck.3,p.R404Q|NM_001033053,p.R404Q|ENST00000345221,p.R404Q|NM_014922,p.R404Q|ENST00000544378,p.R404Q|uc002gcj.3,p.R404Q|uc002gcg.1,p.R404Q|NM_033007,p.R404Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010clh.3	nonsynonymous SNV	exon5	c.G1211A	p.R404Q	PAPIRQILSRPERLLFILDGVDEPG	PAPIRQILSRPEQLLFILDGVDEPG	9.0	6.0	-	-	4253_17:5462805-5462805 C>T_PAPIRQILSRPEQLLFILDGVDEPG
9:125424850-125424850 C>T	0.0	4253	MELANOMA	-	-	-	-	OR1L1	ENST00000373686,p.P336S|uc022bmz.1,p.P286S|ENST00000309623,p.P286S|NM_001005236,p.P286S	protein_coding	uc022bmz.1	nonsynonymous SNV	exon1	c.C856T	p.P286S	TIIYTVLTPMLNPFIYSLRNKDMKQ	TIIYTVLTPMLNSFIYSLRNKDMKQ	1.0	10.0	unscreened	-	4253_9:125424850-125424850 C>T_TIIYTVLTPMLNSFIYSLRNKDMKQ
X:117079508-117079508 C>T	1.0	4253	MELANOMA	-	-	-	-	KLHL13	uc011mto.2,p.M37I|NM_001168300,p.M37I	protein_coding	uc011mto.2	nonsynonymous SNV	exon2	c.G111A	p.M37I	LSRSLVEEEDQHMKLSLGGSEMGLS	LSRSLVEEEDQHIKLSLGGSEMGLS	6.0	10.0	unscreened	-	4253_X:117079508-117079508 C>T_LSRSLVEEEDQHIKLSLGGSEMGLS
X:117079508-117079508 C>T	1.0	4253	MELANOMA	-	-	-	-	KLHL13	ENST00000539496,p.M46I|NM_001168299,p.M46I|uc011mtp.2,p.M46I	protein_coding	uc011mtp.2	nonsynonymous SNV	exon3	c.G138A	p.M46I	TSGSLVEEEDQHMKLSLGGSEMGLS	TSGSLVEEEDQHIKLSLGGSEMGLS	6.0	10.0	unscreened	-	4253_X:117079508-117079508 C>T_TSGSLVEEEDQHIKLSLGGSEMGLS
X:117079508-117079508 C>T	1.0	4253	MELANOMA	-	-	-	-	KLHL13	NM_001168302,p.M27I|uc022cde.1,p.M27I|ENST00000540167,p.M27I|ENST00000541812,p.M27I|uc011mtq.2,p.M27I|NM_001168301,p.M27I	protein_coding	uc022cde.1	nonsynonymous SNV	exon3	c.G81A	p.M27I	RNRSLVEEEDQHMKLSLGGSEMGLS	RNRSLVEEEDQHIKLSLGGSEMGLS	6.0	10.0	unscreened	-	4253_X:117079508-117079508 C>T_RNRSLVEEEDQHIKLSLGGSEMGLS
X:114414235-114414235 C>T	1.0	4253	MELANOMA	-	-	-	-	LRCH2	ENST00000317135,p.R234K|NM_001243963,p.R234K|ENST00000538422,p.R234K|uc004epz.3,p.R234K|NM_020871,p.R234K|uc010nqe.3,p.R234K	protein_coding	uc010nqe.3	nonsynonymous SNV	exon4	c.G701A	p.R234K	GKLHSLRELNIRRNNLHVLPDELGD	GKLHSLRELNIRKNNLHVLPDELGD	6.0	10.0	unscreened	-	4253_X:114414235-114414235 C>T_GKLHSLRELNIRKNNLHVLPDELGD
20:34022041-34022041 C>T	0.0	4253	MELANOMA	-	-	ID=COSM459769,COSM1134552,COSM1134553;OCCURENCE=1(cervix)	-	GDF5	ENST00000374375,p.R29C	protein_coding	ENST00000374375	nonsynonymous SNV	exon2	c.C85T	p.R29C	FRLQRALRFLLGRLPWRVASGARRF	FRLQRALRFLLGCLPWRVASGARRF	5.0	5.0	unscreened	-	4253_20:34022041-34022041 C>T_FRLQRALRFLLGCLPWRVASGARRF
16:24552008-24552008 G>A	1.0	4253	MELANOMA	-	-	-	-	RBBP6	NM_018703,p.G21R|uc002dmh.3,p.G21R|ENST00000319715,p.G21R|ENST00000452655,p.G21R|ENST00000568015,p.G21R|ENST00000348022,p.G21R|NM_032626,p.G21R|NM_006910,p.G21R|uc002dmi.3,p.G21R|uc010bxr.3,p.G21R|ENST00000567686,p.G21R|ENST00000381039,p.G21R|uc002dmg.3,p.G21R	retained_intron, protein_coding	uc010bxr.3	nonsynonymous SNV	exon1	c.G61A	p.G21R	SSKLNYDTVTFDGLHISLCDLKKQI	SSKLNYDTVTFDRLHISLCDLKKQI	9.0	7.0	unscreened	-	4253_16:24552008-24552008 G>A_SSKLNYDTVTFDRLHISLCDLKKQI
10:120877156-120877156 C>T	1.0	4253	MELANOMA	-	-	-	-	FAM45A	uc010qsv.2,p.A145V|NM_207009,p.A153V|ENST00000361432,p.A153V|uc010qsy.2,p.A80V|uc001ldw.3,p.A153V	protein_coding, processed_transcript	uc010qsy.2	nonsynonymous SNV	exon4	c.C239T	p.A80V	GSFLSKDFDARKAYLAGSIKDIVSQ	GSFLSKDFDARKVYLAGSIKDIVSQ	9.0	10.0	unscreened	-	4253_10:120877156-120877156 C>T_GSFLSKDFDARKVYLAGSIKDIVSQ
5:178564838-178564838 C>T	0.0	4253	MELANOMA	-	-	ID=COSM3784835;OCCURENCE=1(pancreas)	-	ADAMTS2	NM_014244,p.R628H|uc003mjw.3,p.R628H|ENST00000251582,p.R628H	retained_intron, protein_coding	uc003mjw.3	nonsynonymous SNV	exon12	c.G1883A	p.R628H	PDSLADFREEQCRQWDLYFEHGDAQ	PDSLADFREEQCHQWDLYFEHGDAQ	7.0	1.0	unscreened	-	4253_5:178564838-178564838 C>T_PDSLADFREEQCHQWDLYFEHGDAQ
8:144998723-144998723 C>T	1.0	4253	MELANOMA	-	-	-	-	PLEC	ENST00000527096,p.E1815K|uc003zag.1,p.E1770K|uc003zae.1,p.E1760K|ENST00000354958,p.E1770K|uc003zaf.1,p.E1929K|NM_201381,p.E1760K|NM_201384,p.E1792K|uc003zaj.2,p.E1819K|NM_201383,p.E1796K|uc003zac.1,p.E1796K|NM_201380,p.E1929K|ENST00000357649,p.E1796K|NM_201379,p.E1770K|ENST00000322810,p.E1929K|uc003zah.2,p.E1778K|ENST00000436759,p.E1819K|uc003zab.1,p.E1792K|NM_000445,p.E1819K|ENST00000356346,p.E1778K|ENST00000345136,p.E1792K|NM_201382,p.E1792K|uc003zad.2,p.E1792K|ENST00000354589,p.E1792K|NM_201378,p.E1778K|ENST00000398774,p.E1760K	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon32	c.G5455A	p.E1819K	STSEKSKQRLEAEAGRFRELAEEAA	STSEKSKQRLEAKAGRFRELAEEAA	9.0	6.0	unscreened	-	4253_8:144998723-144998723 C>T_STSEKSKQRLEAKAGRFRELAEEAA
19:1820339-1820339 A>G	1.0	4253	MELANOMA	-	-	-	-	REXO1	ENST00000170168,p.I817T|uc010dsq.3,p.I126T|uc002lua.4,p.I817T|NM_020695,p.I817T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dsq.3	nonsynonymous SNV	exon2	c.T377C	p.I126T	IPKEFGGKVPTVIRQRYLNLFIEEC	IPKEFGGKVPTVTRQRYLNLFIEEC	7.0	2.0	unscreened	-	4253_19:1820339-1820339 A>G_IPKEFGGKVPTVTRQRYLNLFIEEC
5:140564132-140564132 C>A	1.0	4253	MELANOMA	-	-	-	-	PCDHB16	ENST00000361016,p.F666L|uc003liv.3,p.F666L|NM_020957,p.F666L	protein_coding	uc003liv.3	nonsynonymous SNV	exon1	c.C1998A	p.F666L	ATATLHVLLVDGFSQPFLPLPEAAP	ATATLHVLLVDGLSQPFLPLPEAAP	5.0	5.0	unscreened	-	4253_5:140564132-140564132 C>A_ATATLHVLLVDGLSQPFLPLPEAAP
5:127625628-127625628 C>T	0.0	4253	MELANOMA	-	-	-	-	FBN2	uc003kuu.3,p.D2153N|ENST00000508053,p.D2153N|ENST00000262464,p.D2153N|NM_001999,p.D2153N	retained_intron, protein_coding, processed_transcript	uc003kuu.3	nonsynonymous SNV	exon51	c.G6457A	p.D2153N	ELCPKDDEVAFQDLCPYGHGTVPSL	ELCPKDDEVAFQNLCPYGHGTVPSL	6.0	4.0	unscreened	-	4253_5:127625628-127625628 C>T_ELCPKDDEVAFQNLCPYGHGTVPSL
18:22806065-22806065 G>A	1.0	4253	MELANOMA	-	-	-	1	ZNF521	ENST00000538137,p.P606L|uc002kvk.2,p.P606L|NM_015461,p.P606L|ENST00000361524,p.P606L|uc002kvl.2,p.P386L|ENST00000584787,p.P386L|ENST00000399425,p.P606L|uc010dly.2,p.P606L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dly.2	nonsynonymous SNV	exon4	c.C1817T	p.P606L	YIHNGKKSRALSPLSPVAIEQTSLK	YIHNGKKSRALSLLSPVAIEQTSLK	5.0	5.0	unscreened	-	4253_18:22806065-22806065 G>A_YIHNGKKSRALSLLSPVAIEQTSLK
17:56439945-56439945 G>A	1.0	4253	MELANOMA	-	-	ID=COSM284639;OCCURENCE=2(large_intestine)	1	RNF43	ENST00000583753,p.S175L|uc010wnv.2,p.S175L|ENST00000584437,p.S216L|uc002iwh.4,p.S216L|ENST00000577716,p.S216L|uc002iwf.3,p.S216L|ENST00000500597,p.S175L|uc010dcw.3,p.S89L|ENST00000577625,p.S89L|NM_017763,p.S216L|uc002iwg.4,p.S216L|ENST00000407977,p.S216L|ENST00000581868,p.S89L	retained_intron, protein_coding, processed_transcript	uc010wnv.2	nonsynonymous SNV	exon4	c.C524T	p.S175L	TVVGTIFVIILASVLRIRCRPRHSR	TVVGTIFVIILALVLRIRCRPRHSR	7.0	5.0	unscreened	-	4253_17:56439945-56439945 G>A_TVVGTIFVIILALVLRIRCRPRHSR
11:63885270-63885270 G>A	1.0	4253	MELANOMA	-	-	-	-	FLRT1	NM_013280,p.E511K|ENST00000246841,p.E511K|uc021qks.1,p.E511K|uc001nyi.1,p.E511K	protein_coding	uc021qks.1	nonsynonymous SNV	exon1	c.G1531A	p.E511K	PKSTYIICMVTMETSNAYVADETPV	PKSTYIICMVTMKTSNAYVADETPV	6.0	9.0	unscreened	-	4253_11:63885270-63885270 G>A_PKSTYIICMVTMKTSNAYVADETPV
7:5427953-5427953 G>A	1.0	4253	MELANOMA	-	-	-	-	TNRC18	uc003soi.4,p.P501L|ENST00000430969,p.P501L|uc010ksx.1,p.P427L|ENST00000399537,p.P501L|NM_001080495,p.P501L	retained_intron, protein_coding	uc010ksx.1	nonsynonymous SNV	exon5	c.C1280T	p.P427L	QAAKLFGLEPGRPPPTGPEHKWKPF	QAAKLFGLEPGRLPPTGPEHKWKPF	8.0	5.0	unscreened	-	4253_7:5427953-5427953 G>A_QAAKLFGLEPGRLPPTGPEHKWKPF
4:62598604-62598604 C>T	0.0	4253	MELANOMA	-	-	-	-	LPHN3	uc010ihh.3,p.P176L|ENST00000508946,p.P176L|ENST00000512091,p.P176L|uc010ihg.1,p.P244L|ENST00000514157,p.P176L|ENST00000509896,p.P244L|ENST00000504896,p.P176L|NM_015236,p.P176L|uc003hcq.4,p.P176L|ENST00000514996,p.P176L|ENST00000506720,p.P244L|ENST00000507625,p.P244L|ENST00000511324,p.P244L|ENST00000514591,p.P176L|ENST00000545650,p.P176L|ENST00000507164,p.P244L|ENST00000506700,p.P176L|ENST00000508693,p.P244L|ENST00000506746,p.P244L	retained_intron, protein_coding, processed_transcript	uc010ihh.3	nonsynonymous SNV	exon5	c.C527T	p.P176L	QASDKIYYMPWTPYRTDTLTEYSSK	QASDKIYYMPWTLYRTDTLTEYSSK	6.0	7.0	unscreened	-	4253_4:62598604-62598604 C>T_QASDKIYYMPWTLYRTDTLTEYSSK
12:52307403-52307403 C>T	0.0	4253	MELANOMA	-	-	-	-	ACVRL1	NM_000020,p.P125L|uc001rzj.3,p.P125L|ENST00000388922,p.P125L|uc001rzk.3,p.P125L|ENST00000550683,p.P139L|NM_001077401,p.P125L	retained_intron, protein_coding, processed_transcript	uc001rzk.3	nonsynonymous SNV	exon3	c.C374T	p.P125L	PGTDGQLALILGPVLALLALVALGV	PGTDGQLALILGLVLALLALVALGV	9.0	3.0	-	-	4253_12:52307403-52307403 C>T_PGTDGQLALILGLVLALLALVALGV
12:132490704-132490704 C>T	1.0	4253	MELANOMA	-	-	-	-	EP400	ENST00000333577,p.L1031F|ENST00000389562,p.L994F|ENST00000332482,p.L958F|ENST00000330386,p.L995F|ENST00000389561,p.L995F|NM_015409,p.L995F|uc001ujm.3,p.L995F|uc001ujn.3,p.L995F	protein_coding, processed_transcript	uc001ujn.3	nonsynonymous SNV	exon14	c.C2983T	p.L995F	CPGDRESRKDLVLIDSLFIMDQFKA	CPGDRESRKDLVFIDSLFIMDQFKA	7.0	7.0	unscreened	-	4253_12:132490704-132490704 C>T_CPGDRESRKDLVFIDSLFIMDQFKA
19:39303128-39303128 C>T	0.0	4253	MELANOMA	-	-	-	-	LGALS4	uc002ojg.3,p.G26E|uc010xuj.2,p.G26E|ENST00000307751,p.G26E|NM_006149,p.G26E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xuj.2	nonsynonymous SNV	exon2	c.G77A	p.G26E	NPTLPYYQPIPGGLNVGMSVYIQGV	NPTLPYYQPIPGELNVGMSVYIQGV	6.0	3.0	unscreened	-	4253_19:39303128-39303128 C>T_NPTLPYYQPIPGELNVGMSVYIQGV
22:50724456-50724456 G>A	1.0	4253	MELANOMA	-	-	-	-	PLXNB2	ENST00000359337,p.S650L|NM_012401,p.S650L|uc003bkv.4,p.S650L|ENST00000449103,p.S650L	retained_intron, protein_coding, processed_transcript	uc003bkv.4	nonsynonymous SNV	exon10	c.C1949T	p.S650L	QWDLRYHECREASPNPEDGIVRAHM	QWDLRYHECREALPNPEDGIVRAHM	10.0	10.0	-	-	4253_22:50724456-50724456 G>A_QWDLRYHECREALPNPEDGIVRAHM
16:72991844-72991844 G>A	1.0	4253	MELANOMA	-	-	-	1	ZFHX3	NM_006885,p.S734F|ENST00000268489,p.S734F|uc002fck.3,p.S734F	retained_intron, protein_coding	uc002fck.3	nonsynonymous SNV	exon2	c.C2201T	p.S734F	GYKPFRCEVCNYSTTTKGNLSIHMQ	GYKPFRCEVCNYFTTTKGNLSIHMQ	7.0	6.0	unscreened	-	4253_16:72991844-72991844 G>A_GYKPFRCEVCNYFTTTKGNLSIHMQ
14:96829252-96829252 T>G	0.0	4253	MELANOMA	-	-	-	-	ATG2B	ENST00000359933,p.Y21S|uc001yfi.3,p.Y21S|NM_018036,p.Y21S	retained_intron, protein_coding, processed_transcript	uc001yfi.3	nonsynonymous SNV	exon1	c.A62C	p.Y21S	IKKRACRYLLQRYLGHFLQEKLSLE	IKKRACRYLLQRSLGHFLQEKLSLE	7.0	1.0	unscreened	-	4253_14:96829252-96829252 T>G_IKKRACRYLLQRSLGHFLQEKLSLE
11:65649973-65649973 G>A	0.0	4253	MELANOMA	-	-	-	-	CTSW	ENST00000526034,p.D171N	retained_intron, protein_coding	ENST00000526034	nonsynonymous SNV	exon5	c.G511A	p.D171N	GNIETLWRISFWDFVDVSVQGGLAS	GNIETLWRISFWNFVDVSVQGGLAS	7.0	8.0	unscreened	-	4253_11:65649973-65649973 G>A_GNIETLWRISFWNFVDVSVQGGLAS
18:743044-743044 T>C	1.0	4253	MELANOMA	-	-	-	-	YES1	uc002kky.3,p.M312V|ENST00000314574,p.M312V|ENST00000577961,p.M317V|ENST00000584307,p.M312V|NM_005433,p.M312V|uc002kkz.3,p.M312V	protein_coding, processed_transcript	uc002kkz.3	nonsynonymous SNV	exon8	c.A934G	p.M312V	TKVAIKTLKPGTMMPEAFLQEAQIM	TKVAIKTLKPGTVMPEAFLQEAQIM	7.0	6.0	unscreened	-	4253_18:743044-743044 T>C_TKVAIKTLKPGTVMPEAFLQEAQIM
9:117846689-117846689 C>T	1.0	4253	MELANOMA	-	-	-	2	TNC	ENST00000340094,p.D644N|ENST00000537320,p.D644N|ENST00000423613,p.D644N|ENST00000350763,p.D644N|ENST00000542877,p.D644N|ENST00000346706,p.D644N|uc022bmj.1,p.D644N|uc004bjj.4,p.D644N|ENST00000345230,p.D644N|ENST00000535648,p.D644N|NM_002160,p.D644N|ENST00000341037,p.D644N|uc010mvf.3,p.D644N	protein_coding, processed_transcript	uc022bmj.1	nonsynonymous SNV	exon3	c.G1930A	p.D644N	TEVTEETVNLAWDNEMRVTEYLVVY	TEVTEETVNLAWNNEMRVTEYLVVY	10.0	10.0	unscreened	-	4253_9:117846689-117846689 C>T_TEVTEETVNLAWNNEMRVTEYLVVY
1:114442504-114442504 A>C	0.0	4253	MELANOMA	-	-	-	-	AP4B1-AS1	ENST00000369566,p.L286R|uc010owq.2,p.L286R	protein_coding, processed_transcript	uc010owq.2	nonsynonymous SNV	exon3	c.T857G	p.L286R	AIFAIGRCLLLFLLENLDQPARKLW	AIFAIGRCLLLFRLENLDQPARKLW	8.0	8.0	unscreened	-	4253_1:114442504-114442504 A>C_AIFAIGRCLLLFRLENLDQPARKLW
5:16067653-16067653 C>T	1.0	4253	MELANOMA	-	-	-	-	MARCH11	uc010itw.1,p.R135Q|uc003jfo.2,p.R379Q|NM_001102562,p.R379Q|ENST00000332432,p.R379Q	protein_coding, processed_transcript	uc010itw.1	nonsynonymous SNV	exon2	c.G404A	p.R135Q	FQCGYVLLHLFNRMRPHEDLSEDNS	FQCGYVLLHLFNQMRPHEDLSEDNS	6.0	7.0	unscreened	-	4253_5:16067653-16067653 C>T_FQCGYVLLHLFNQMRPHEDLSEDNS
9:103340625-103340625 C>T	0.0	4253	MELANOMA	-	-	-	-	MURC	ENST00000307584,p.S67F|NM_001018116,p.S67F|uc004bba.3,p.S67F	protein_coding	uc004bba.3	nonsynonymous SNV	exon1	c.C200T	p.S67F	EERHREMENAIKSVQIDLLKLSQSH	EERHREMENAIKFVQIDLLKLSQSH	5.0	10.0	unscreened	-	4253_9:103340625-103340625 C>T_EERHREMENAIKFVQIDLLKLSQSH
13:38154734-38154734 G>A	1.0	4253	MELANOMA	-	-	-	-	POSTN	uc001uwo.4,p.S498F|NM_001135936,p.S498F|uc001uwr.3,p.S498F|ENST00000379742,p.S498F|ENST00000379743,p.S498F|NM_001286667,p.S498F|ENST00000541179,p.S498F|NM_001286665,p.S498F|uc010teu.1,p.S498F|uc010tew.1,p.S498F|uc010tet.2,p.S26F|uc010tex.1,p.S413F|uc001uwq.3,p.S498F|NM_006475,p.S498F|ENST00000379749,p.S498F|uc010tev.1,p.S498F|NM_001135935,p.S498F|uc001uwp.4,p.S498F|NM_001135934,p.S498F|ENST00000379747,p.S498F|ENST00000541481,p.S498F|NM_001286666,p.S498F	protein_coding, processed_transcript	uc010tex.1	nonsynonymous SNV	exon11	c.C1238T	p.S413F	HIFREIIKPAEKSLHEKLKQDKRFS	HIFREIIKPAEKFLHEKLKQDKRFS	9.0	4.0	unscreened	-	4253_13:38154734-38154734 G>A_HIFREIIKPAEKFLHEKLKQDKRFS
1:23111488-23111488 G>A	0.0	4253	MELANOMA	-	-	-	-	EPHB2	uc001bge.3,p.D244N|uc001bgf.3,p.D244N|uc010odu.2,p.D244N|uc009vqj.1,p.D244N|NM_017449,p.D244N|ENST00000374630,p.D244N|ENST00000400191,p.D244N|ENST00000374632,p.D244N|NM_004442,p.D244N|ENST00000544305,p.D244N|ENST00000374627,p.D238N	protein_coding, processed_transcript	uc010odu.2	nonsynonymous SNV	exon4	c.G730A	p.D244N	EVDVPIKLYCNGDGEWLVPIGRCMC	EVDVPIKLYCNGNGEWLVPIGRCMC	7.0	4.0	unscreened	-	4253_1:23111488-23111488 G>A_EVDVPIKLYCNGNGEWLVPIGRCMC
5:149212805-149212805 C>T	1.0	4253	MELANOMA	-	-	-	-	PPARGC1B	uc003lrd.3,p.S351L|uc021yfr.1,p.S326L|uc003lrc.3,p.S390L|uc003lrb.2,p.S390L|uc003lre.1,p.S369L|NM_133263,p.S390L|ENST00000360453,p.S351L|NM_001172698,p.S351L|ENST00000403750,p.S326L|ENST00000309241,p.S390L|uc003lrf.3,p.S369L|NM_001172699,p.S326L|ENST00000394320,p.S390L	retained_intron, protein_coding, processed_transcript	uc021yfr.1	nonsynonymous SNV	exon4	c.C977T	p.S326L	PKDSQASPGRPSSVEEVRIAASPKS	PKDSQASPGRPSLVEEVRIAASPKS	6.0	8.0	unscreened	-	4253_5:149212805-149212805 C>T_PKDSQASPGRPSLVEEVRIAASPKS
19:41889660-41889660 G>T	1.0	4253	MELANOMA	-	-	-	-	TMEM91	ENST00000392002,p.G134V|NM_001098821,p.G134V|uc002oqk.4,p.G134V	protein_coding	uc002oqk.4	nonsynonymous SNV	exon4	c.G401T	p.G134V	NKAWAKGDIQGAGAASRRAFLLGVL	NKAWAKGDIQGAVAASRRAFLLGVL	9.0	3.0	unscreened	-	4253_19:41889660-41889660 G>T_NKAWAKGDIQGAVAASRRAFLLGVL
4:123161228-123161228 C>T	1.0	4253	MELANOMA	-	-	-	-	KIAA1109	ENST00000388738,p.S1464L|uc003ieh.3,p.S1464L|uc003iei.1,p.S1217L|ENST00000455637,p.S1464L|uc003iek.2,p.S83L|ENST00000264501,p.S1464L|uc010ins.1,p.S807L|NM_015312,p.S1464L	retained_intron, protein_coding, processed_transcript	uc010ins.1	nonsynonymous SNV	exon18	c.C2420T	p.S807L	RTLPFKTHPSQASFVSALGGEDDVI	RTLPFKTHPSQALFVSALGGEDDVI	7.0	5.0	unscreened	-	4253_4:123161228-123161228 C>T_RTLPFKTHPSQALFVSALGGEDDVI
11:6622379-6622379 C>T	1.0	4253	MELANOMA	0.0	-	-	-	RRP8	NM_015324,p.R306Q|uc001med.3,p.R306Q|ENST00000254605,p.R306Q	retained_intron, protein_coding, nonsense_mediated_decay	uc001med.3	nonsynonymous SNV	exon3	c.G917A	p.R306Q	QPVDRIARDLRQRPASLVVADFGCG	QPVDRIARDLRQQPASLVVADFGCG	9.0	9.0	-	-	4253_11:6622379-6622379 C>T_QPVDRIARDLRQQPASLVVADFGCG
16:53504402-53504402 C>G	1.0	4253	MELANOMA	-	-	-	-	RBL2	ENST00000262133,p.L785V|uc002ehi.4,p.L785V|uc002ehj.3,p.L495V|NM_005611,p.L785V	retained_intron, protein_coding, processed_transcript	uc002ehj.3	nonsynonymous SNV	exon15	c.C1483G	p.L495V	VTGSIQPLSAQALAGSLSSQQVTGT	VTGSIQPLSAQAVAGSLSSQQVTGT	8.0	7.0	-	-	4253_16:53504402-53504402 C>G_VTGSIQPLSAQAVAGSLSSQQVTGT
11:65649973-65649973 G>A	0.0	4253	MELANOMA	-	-	-	-	CTSW	NM_001335,p.D172N|ENST00000307886,p.D172N|uc001ogc.1,p.D172N|ENST00000528419,p.D172N	retained_intron, protein_coding	uc001ogc.1	nonsynonymous SNV	exon5	c.G514A	p.D172N	GNIETLWRISFWDFVDVSVQELLDC	GNIETLWRISFWNFVDVSVQELLDC	7.0	8.0	unscreened	-	4253_11:65649973-65649973 G>A_GNIETLWRISFWNFVDVSVQELLDC
16:2141115-2141115 C>T	1.0	4253	MELANOMA	-	-	-	-	PKD1	NM_001009944,p.E3925K|ENST00000423118,p.E3924K|ENST00000262304,p.E3925K|NM_000296,p.E3924K|uc002cot.1,p.E3924K|uc002cos.1,p.E3925K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cot.1	nonsynonymous SNV	exon43	c.G11770A	p.E3924K	HFAVAEARTWHREGRWRVLRLGAWA	HFAVAEARTWHRKGRWRVLRLGAWA	8.0	9.0	-	-	4253_16:2141115-2141115 C>T_HFAVAEARTWHRKGRWRVLRLGAWA
18:12836879-12836879 G>A	1.0	4253	MELANOMA	-	-	-	-	PTPN2	ENST00000353319,p.R58C|ENST00000309660,p.R58C|uc002krm.3,p.R58C|NM_080422,p.R58C|uc002krl.3,p.R58C|ENST00000592776,p.R58C|ENST00000327283,p.R58C|NM_002828,p.R58C|ENST00000591115,p.R58C|uc002krn.3,p.R58C|uc002krp.3,p.R58C|NM_001207013,p.R58C|NM_080423,p.R58C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002krp.3	nonsynonymous SNV	exon3	c.C172T	p.R58C	NRYRDVSPYDHSRVKLQNAENDYIN	NRYRDVSPYDHSCVKLQNAENDYIN	9.0	6.0	unscreened	-	4253_18:12836879-12836879 G>A_NRYRDVSPYDHSCVKLQNAENDYIN
19:40929342-40929342 G>A	1.0	4253	MELANOMA	-	-	-	-	SERTAD1	uc002ont.4,p.P38S|ENST00000357949,p.P38S|NM_013376,p.P38S	protein_coding	uc002ont.4	nonsynonymous SNV	exon2	c.C112T	p.P38S	LDPGHTAVAQAPPAVASSSLFDLSV	LDPGHTAVAQAPSAVASSSLFDLSV	8.0	3.0	-	-	4253_19:40929342-40929342 G>A_LDPGHTAVAQAPSAVASSSLFDLSV
11:124253092-124253092 C>T	1.0	4253	MELANOMA	-	-	-	-	OR8B2	ENST00000375013,p.G50S|NM_001005468,p.G50S|uc010sai.2,p.G50S	protein_coding	uc010sai.2	nonsynonymous SNV	exon1	c.G148A	p.G50S	TMVGNLGLITLFGLNSHLHTPMYYF	TMVGNLGLITLFSLNSHLHTPMYYF	1.0	8.0	unscreened	-	4253_11:124253092-124253092 C>T_TMVGNLGLITLFSLNSHLHTPMYYF
2:3623416-3623416 G>A	1.0	4253	MELANOMA	-	-	-	-	RPS7	NM_001011,p.E29K|uc002qxw.3,p.E29K|ENST00000403564,p.E29K|uc002qxx.3,p.E29K|ENST00000407445,p.E29K|ENST00000304921,p.E29K|ENST00000406376,p.E29K	retained_intron, protein_coding	uc002qxx.3	nonsynonymous SNV	exon2	c.G85A	p.E29K	DEFESGISQALLELEMNSDLKAQLR	DEFESGISQALLKLEMNSDLKAQLR	10.0	9.0	unscreened	-	4253_2:3623416-3623416 G>A_DEFESGISQALLKLEMNSDLKAQLR
X:64953065-64953065 T>C	1.0	4253	MELANOMA	-	-	-	1	MSN	ENST00000360270,p.F240L|uc004dwf.3,p.F240L|NM_002444,p.F240L	protein_coding, processed_transcript	uc004dwf.3	nonsynonymous SNV	exon7	c.T718C	p.F240L	YEQNDRLTPKIGFPWSEIRNISFND	YEQNDRLTPKIGLPWSEIRNISFND	10.0	10.0	unscreened	-	4253_X:64953065-64953065 T>C_YEQNDRLTPKIGLPWSEIRNISFND
4:17621567-17621567 C>T	1.0	4253	MELANOMA	-	-	-	-	MED28	ENST00000503945,p.T65I|ENST00000237380,p.T68I|uc003gpi.1,p.T68I|NM_025205,p.T68I	retained_intron, protein_coding	uc003gpi.1	nonsynonymous SNV	exon2	c.C203T	p.T68I	FASLVSQDYVNGTDQEEIRTGVDQC	FASLVSQDYVNGIDQEEIRTGVDQC	9.0	3.0	unscreened	-	4253_4:17621567-17621567 C>T_FASLVSQDYVNGIDQEEIRTGVDQC
10:71142535-71142535 C>T	1.0	4253	MELANOMA	-	-	-	-	HK1	NM_033496,p.P519S|uc001jph.4,p.P524S|uc001jpk.4,p.P519S|uc001jpi.4,p.P524S|NM_033497,p.P524S|NM_000188,p.P520S|ENST00000360289,p.P508S|NM_033498,p.P524S|ENST00000404387,p.P524S|uc001jpj.4,p.P555S|NM_033500,p.P508S|ENST00000359426,p.P520S|ENST00000298649,p.P519S|uc001jpl.4,p.P520S|uc009xqd.3,p.P398S|uc001jpg.4,p.P508S|ENST00000448642,p.P555S	protein_coding, processed_transcript	uc009xqd.3	nonsynonymous SNV	exon9	c.C1192T	p.P398S	VVKMLPSFVRRTPDGTENGDFLALD	VVKMLPSFVRRTSDGTENGDFLALD	10.0	9.0	unscreened	-	4253_10:71142535-71142535 C>T_VVKMLPSFVRRTSDGTENGDFLALD
1:23111242-23111242 G>A	1.0	4253	MELANOMA	-	-	-	-	EPHB2	ENST00000374630,p.E162K|NM_017449,p.E162K|uc001bge.3,p.E162K|ENST00000400191,p.E162K|uc010odu.2,p.E162K|NM_004442,p.E162K|uc009vqj.1,p.E162K|ENST00000374632,p.E162K|uc001bgf.3,p.E162K|ENST00000544305,p.E162K|ENST00000374627,p.E156K	protein_coding, processed_transcript	uc010odu.2	nonsynonymous SNV	exon4	c.G484A	p.E162K	VDLGGRVMKINTEVRSFGPVSRSGF	VDLGGRVMKINTKVRSFGPVSRSGF	7.0	4.0	unscreened	-	4253_1:23111242-23111242 G>A_VDLGGRVMKINTKVRSFGPVSRSGF
1:160012042-160012042 C>T	0.0	4253	MELANOMA	-	-	-	-	KCNJ10	ENST00000368089,p.G94E|uc001fuw.2,p.G94E|NM_002241,p.G94E	protein_coding	uc001fuw.2	nonsynonymous SNV	exon2	c.G281A	p.G94E	FGVVWYLVAVAHGDLLELDPPANHT	FGVVWYLVAVAHEDLLELDPPANHT	6.0	7.0	unscreened	-	4253_1:160012042-160012042 C>T_FGVVWYLVAVAHEDLLELDPPANHT
3:112324275-112324275 A>G	1.0	4253	MELANOMA	-	-	-	-	CCDC80	NM_199512,p.Y948H|uc003dzf.3,p.Y948H|ENST00000439685,p.Y948H|uc003dzg.3,p.Y948H|uc011bhv.2,p.Y921H|NM_199511,p.Y948H|ENST00000206423,p.Y948H	protein_coding, processed_transcript	uc011bhv.2	nonsynonymous SNV	exon6	c.T2761C	p.Y921H	DDYRHHESYHHGYPY	DDYRHHESYHHGHPY	10.0	8.0	-	-	4253_3:112324275-112324275 A>G_DDYRHHESYHHGHPY
20:39317330-39317330 G>A	1.0	4253	MELANOMA	-	-	-	1	MAFB	NM_005461,p.S54L|ENST00000373313,p.S54L|ENST00000396967,p.S54L|uc002xji.3,p.S54L	protein_coding	uc002xji.3	nonsynonymous SNV	exon1	c.C161T	p.S54L	PGRPCTRLQPAGSVSSTPLSTPCSS	PGRPCTRLQPAGLVSSTPLSTPCSS	9.0	4.0	-	-	4253_20:39317330-39317330 G>A_PGRPCTRLQPAGLVSSTPLSTPCSS
1:13940818-13940818 G>A	0.0	4253	MELANOMA	-	-	-	-	PDPN	ENST00000294489,p.V208I|ENST00000376057,p.V208I|uc001avf.3,p.V90I|NM_198389,p.V208I|ENST00000513143,p.V90I|ENST00000487038,p.V90I|NM_001006624,p.V90I|NM_001006625,p.V90I|uc009voc.3,p.V90I|uc001ave.3,p.V90I|ENST00000510906,p.V199I|NM_006474,p.V208I|uc009vob.3,p.V90I|uc001avc.3,p.V208I|ENST00000509009,p.V127I|uc001avd.3,p.V208I|ENST00000475043,p.V90I|ENST00000376061,p.V90I	protein_coding, nonsense_mediated_decay	uc009voc.3	nonsynonymous SNV	exon5	c.G268A	p.V90I	TVEKDGLSTVTLVGIIVGVLLAIGF	TVEKDGLSTVTLIGIIVGVLLAIGF	6.0	4.0	unscreened	-	4253_1:13940818-13940818 G>A_TVEKDGLSTVTLIGIIVGVLLAIGF
4:55984833-55984833 C>T	0.0	4253	MELANOMA	-	-	-	1	KDR	uc003has.3,p.G99E|NM_002253,p.G99E|uc003hat.1,p.G99E|uc011bzx.2,p.G99E|ENST00000263923,p.G99E	retained_intron, protein_coding	uc011bzx.2	nonsynonymous SNV	exon3	c.G296A	p.G99E	TLTIPKVIGNDTGAYKCFYRETDLA	TLTIPKVIGNDTEAYKCFYRETDLA	6.0	5.0	unscreened	-	4253_4:55984833-55984833 C>T_TLTIPKVIGNDTEAYKCFYRETDLA
11:65374245-65374245 G>A	1.0	4253	MELANOMA	-	-	-	-	MAP3K11	uc001oex.1,p.S14L|uc010rol.2,p.S250L|NM_002419,p.S507L|uc001oew.3,p.S507L|ENST00000309100,p.S507L|ENST00000530153,p.S250L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rol.2	nonsynonymous SNV	exon6	c.C749T	p.S250L	PLDFKHRITVQASPGLDRRRNVFEV	PLDFKHRITVQALPGLDRRRNVFEV	10.0	8.0	unscreened	-	4253_11:65374245-65374245 G>A_PLDFKHRITVQALPGLDRRRNVFEV
17:78169377-78169377 A>-	1.0	4253	MELANOMA	-	-	-	-	CARD14	NM_024110,p.E507fs|uc031res.1,p.E507fs|uc002jxx.3,p.E270fs|uc010dhu.1,p.E305fs|ENST00000573882,p.E507fs|uc031rer.1,p.E507fs|uc002jxw.2,p.E507fs|NM_052819,p.E270fs|NM_001257970,p.E507fs|ENST00000570421,p.E507fs|ENST00000392434,p.E270fs|uc002jxv.3,p.E507fs|ENST00000344227,p.E507fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031res.1	frameshift deletion	exon11	c.1520delA	p.E507fs	EPWSFSSCLEIPEGDPGALPGAKAG	EPWSFSSCLEIPGETREPCRELRQATHTWIMSS	5.0	5.0	unscreened	-	4253_17:78169377-78169377 A>-_EPWSFSSCLEIPGETREPCRELRQATHTWIMSS
14:77492005-77492005 C>T	1.0	4253	MELANOMA	-	-	-	-	IRF2BPL	ENST00000238647,p.G711R|uc001xsy.4,p.G711R|NM_024496,p.G711R	protein_coding	uc001xsy.4	nonsynonymous SNV	exon1	c.G2131A	p.G711R	PQNIPDSPMANSGPLCCTICHERLE	PQNIPDSPMANSRPLCCTICHERLE	8.0	9.0	-	-	4253_14:77492005-77492005 C>T_PQNIPDSPMANSRPLCCTICHERLE
2:183050711-183050711 G>A	1.0	4253	MELANOMA	-	-	-	-	PDE1A	ENST00000358139,p.S491F|ENST00000410103,p.S491F|ENST00000409365,p.S475F|uc002uor.4,p.S475F|ENST00000346717,p.S457F|ENST00000456212,p.S491F|NM_001258312,p.S495F|NM_001258314,p.S457F|uc010zfp.2,p.S387F|NM_005019,p.S491F|uc002uoq.2,p.S491F|uc002uos.4,p.S491F|uc002uou.4,p.S457F|NM_001258313,p.S475F|NM_001003683,p.S491F|ENST00000536095,p.S387F|uc010zfq.2,p.S495F|ENST00000331935,p.S491F|ENST00000435564,p.S491F|ENST00000351439,p.S475F	protein_coding, processed_transcript	uc010zfq.2	nonsynonymous SNV	exon14	c.C1484T	p.S495F	GSMSDGSYSPDYSLAAVDLKSFKNN	GSMSDGSYSPDYFLAAVDLKSFKNN	5.0	4.0	unscreened	-	4253_2:183050711-183050711 G>A_GSMSDGSYSPDYFLAAVDLKSFKNN
18:12836879-12836879 G>A	1.0	4253	MELANOMA	-	-	-	-	PTPN2	ENST00000591497,p.R29C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000591497	nonsynonymous SNV	exon3	c.C85T	p.R29C	MECRMQEIDDHSRVKLQNAENDYIN	MECRMQEIDDHSCVKLQNAENDYIN	9.0	6.0	unscreened	-	4253_18:12836879-12836879 G>A_MECRMQEIDDHSCVKLQNAENDYIN
1:169525925-169525925 C>T	0.0	4253	MELANOMA	-	-	-	-	F5	NM_000130,p.G304E|uc001ggg.1,p.G304E|ENST00000367797,p.G304E|ENST00000546081,p.G167E|ENST00000367796,p.G304E	protein_coding, processed_transcript	uc001ggg.1	nonsynonymous SNV	exon6	c.G911A	p.G304E	TSTTANMTVGPEGKWIISSLTPKHL	TSTTANMTVGPEEKWIISSLTPKHL	6.0	9.0	unscreened	-	4253_1:169525925-169525925 C>T_TSTTANMTVGPEEKWIISSLTPKHL
8:61743121-61743121 C>T	1.0	4253	MELANOMA	-	-	ID=COSM1457708,COSM1457709;OCCURENCE=1(large_intestine)	-	CHD7	ENST00000423902,p.P1255S|uc003xue.3,p.P1255S|NM_017780,p.P1255S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xue.3	nonsynonymous SNV	exon15	c.C3763T	p.P1255S	NTMMELRKCCNHPYLINGAEEKILE	NTMMELRKCCNHSYLINGAEEKILE	10.0	5.0	-	-	4253_8:61743121-61743121 C>T_NTMMELRKCCNHSYLINGAEEKILE
6:137524836-137524836 G>A	0.0	4253	MELANOMA	-	-	-	-	IFNGR1	ENST00000367735,p.S183F|uc011edn.1,p.S183F	protein_coding, processed_transcript	uc011edn.1	nonsynonymous SNV	exon6	c.C548T	p.S183F	SEIKRSCAFSLFSFFI	SEIKRSCAFSLFFFFI	9.0	1.0	unscreened	-	4253_6:137524836-137524836 G>A_SEIKRSCAFSLFFFFI
2:42528473-42528473 G>A	1.0	4253	MELANOMA	-	-	-	1	EML4	uc002rsi.3,p.G528R|ENST00000401738,p.G539R|ENST00000318522,p.G528R|NM_001145076,p.G470R|NM_019063,p.G528R|uc010fap.3,p.G470R|ENST00000402711,p.G470R|uc002rsj.3,p.G217R	retained_intron, protein_coding, processed_transcript	uc010fap.3	nonsynonymous SNV	exon13	c.G1408A	p.G470R	CQMRNGMLLTGGGKDRKIILWDHDL	CQMRNGMLLTGGRKDRKIILWDHDL	8.0	8.0	unscreened	-	4253_2:42528473-42528473 G>A_CQMRNGMLLTGGRKDRKIILWDHDL
2:1657505-1657505 G>A	0.0	4253	MELANOMA	-	-	-	-	PXDN	uc002qxa.3,p.P667S|ENST00000252804,p.P667S|uc002qxb.1,p.P667S|NM_012293,p.P667S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qxb.1	nonsynonymous SNV	exon16	c.C1999T	p.P667S	NDLLALFRYPRDPYTVEQARAGEIF	NDLLALFRYPRDSYTVEQARAGEIF	9.0	8.0	-	-	4253_2:1657505-1657505 G>A_NDLLALFRYPRDSYTVEQARAGEIF
2:27354647-27354647 A>G	1.0	4253	MELANOMA	-	-	-	-	PREB	NM_013388,p.F351S|ENST00000260643,p.F351S|uc002riy.1,p.F279S|uc002rix.1,p.F351S|ENST00000406567,p.F293S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002riy.1	nonsynonymous SNV	exon8	c.T836C	p.F279S	REAHGIVVTDVAFLPEKGRGPELLG	REAHGIVVTDVASLPEKGRGPELLG	9.0	8.0	-	-	4253_2:27354647-27354647 A>G_REAHGIVVTDVASLPEKGRGPELLG
1:25229151-25229151 G>A	1.0	4253	MELANOMA	-	-	-	-	RUNX3	uc009vrj.3,p.S251L|ENST00000399916,p.S251L|ENST00000540420,p.S144L|ENST00000308873,p.S237L|NM_004350,p.S237L|uc001bjq.3,p.S237L|NM_001031680,p.S251L|ENST00000338888,p.S251L|uc001bjr.3,p.S251L	protein_coding, processed_transcript	uc009vrj.3	nonsynonymous SNV	exon7	c.C752T	p.S251L	FSSQPQTPIQGTSELNPFSDPRQFD	FSSQPQTPIQGTLELNPFSDPRQFD	8.0	6.0	unscreened	-	4253_1:25229151-25229151 G>A_FSSQPQTPIQGTLELNPFSDPRQFD
12:43840404-43840404 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1705459,COSM1705458;OCCURENCE=1(skin)	-	ADAMTS20	ENST00000553158,p.H731Y|uc010skx.2,p.H731Y|NM_025003,p.H731Y|ENST00000389420,p.H731Y	protein_coding	uc010skx.2	nonsynonymous SNV	exon15	c.C2191T	p.H731Y	SCKTITGVFNSSHYGYNVVVKIPAG	SCKTITGVFNSSYYGYNVVVKIPAG	4.0	8.0	-	-	4253_12:43840404-43840404 G>A_SCKTITGVFNSSYYGYNVVVKIPAG
8:29989518-29989518 G>A	0.0	4253	MELANOMA	-	-	-	-	MBOAT4	ENST00000320542,p.P417S|NM_001100916,p.P417S|uc010lvg.3,p.P417S	protein_coding, nonsense_mediated_decay	uc010lvg.3	nonsynonymous SNV	exon3	c.C1249T	p.P417S	LWLLCNSYNSVFPMVYCILLLLLAK	LWLLCNSYNSVFSMVYCILLLLLAK	9.0	4.0	-	-	4253_8:29989518-29989518 G>A_LWLLCNSYNSVFSMVYCILLLLLAK
15:78789615-78789615 C>T	1.0	4253	MELANOMA	-	-	-	-	IREB2	uc002bdr.2,p.P915S|ENST00000258886,p.P915S|uc010unb.1,p.P665S|NM_004136,p.P915S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010unb.1	nonsynonymous SNV	exon20	c.C1993T	p.P665S	GLSGRETFSLTFPEELSPGITLNIQ	GLSGRETFSLTFSEELSPGITLNIQ	7.0	10.0	unscreened	-	4253_15:78789615-78789615 C>T_GLSGRETFSLTFSEELSPGITLNIQ
15:64710748-64710748 C>T	1.0	4253	MELANOMA	-	-	-	-	TRIP4	ENST00000560567,p.T351I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000560567	nonsynonymous SNV	exon8	c.C1052T	p.T351I	ENSLAEYHSSGLTTQVQPHRRRLSV	ENSLAEYHSSGLITQVQPHRRRLSV	9.0	9.0	unscreened	-	4253_15:64710748-64710748 C>T_ENSLAEYHSSGLITQVQPHRRRLSV
11:64509549-64509549 G>A	0.0	4253	MELANOMA	-	-	-	-	RASGRP2	ENST00000430645,p.R37C|ENST00000377497,p.R37C|NM_001098671,p.R37C|NM_001098670,p.R37C|ENST00000441258,p.R37C|ENST00000431822,p.R37C|ENST00000445445,p.R37C|ENST00000394430,p.R37C|uc009ypu.3,p.R37C|ENST00000377494,p.R37C|NM_153819,p.R37C|ENST00000377485,p.R37C|uc009ypw.3,p.R37C|ENST00000394432,p.R37C|ENST00000354024,p.R37C|ENST00000377486,p.R37C|ENST00000377489,p.R37C|uc009ypv.3,p.R37C|ENST00000377487,p.R37C	retained_intron, protein_coding, nonsense_mediated_decay	uc009ypw.3	nonsynonymous SNV	exon3	c.C109T	p.R37C	DDSGKVRDPQLVRMFLMMHPWYIPS	DDSGKVRDPQLVCMFLMMHPWYIPS	6.0	2.0	unscreened	-	4253_11:64509549-64509549 G>A_DDSGKVRDPQLVCMFLMMHPWYIPS
7:82585186-82585186 C>T	1.0	4253	MELANOMA	-	-	-	-	PCLO	NM_014510,p.E1695K|uc003uhx.2,p.E1695K|NM_033026,p.E1695K|uc003uhv.2,p.E1695K|ENST00000333891,p.E1695K|ENST00000423517,p.E1695K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G5083A	p.E1695K	ESSQKKTSLYFDEEPELEMESLTDS	ESSQKKTSLYFDKEPELEMESLTDS	7.0	4.0	unscreened	-	4253_7:82585186-82585186 C>T_ESSQKKTSLYFDKEPELEMESLTDS
2:27315292-27315292 C>T	0.0	4253	MELANOMA	-	-	-	-	KHK	uc002rim.2,p.S62L|ENST00000260598,p.S62L|NM_006488,p.S62L	retained_intron, protein_coding, processed_transcript	uc002rim.2	nonsynonymous SNV	exon2	c.C185T	p.S62L	LSLLGAPCAFMGSMAPGHVADFLVA	LSLLGAPCAFMGLMAPGHVADFLVA	6.0	3.0	unscreened	-	4253_2:27315292-27315292 C>T_LSLLGAPCAFMGLMAPGHVADFLVA
12:121972463-121972463 G>A	1.0	4253	MELANOMA	-	-	-	-	KDM2B	ENST00000377069,p.T208I|ENST00000536437,p.T122I|NM_032590,p.T239I|ENST00000446152,p.T202I|uc001uav.4,p.T239I|NM_001005366,p.T208I|uc001uau.3,p.T122I|uc001uas.3,p.T208I|uc021rfe.1,p.T239I|uc001uat.3,p.T239I|uc021rfd.1,p.T208I|ENST00000538046,p.T239I|ENST00000539394,p.T122I|ENST00000377071,p.T239I	retained_intron, protein_coding, nonsense_mediated_decay	uc021rfe.1	nonsynonymous SNV	exon7	c.C716T	p.T239I	KKYCLMSVKGCFTDFHIDFGGTSVW	KKYCLMSVKGCFIDFHIDFGGTSVW	8.0	7.0	unscreened	-	4253_12:121972463-121972463 G>A_KKYCLMSVKGCFIDFHIDFGGTSVW
16:81077463-81077463 C>T	1.0	4253	MELANOMA	-	-	-	-	ATMIN	uc010vnn.1,p.P225S|uc002fgb.1,p.P296S|uc002fga.2,p.P296S|NM_015251,p.P454S|ENST00000566488,p.P298S|ENST00000299575,p.P454S|ENST00000564241,p.P298S|NM_001300728,p.P298S|uc002ffz.1,p.P454S	retained_intron, protein_coding, processed_transcript	uc010vnn.1	nonsynonymous SNV	exon3	c.C673T	p.P225S	QTDLSFDSQVSLPISVHTQTFLPSS	QTDLSFDSQVSLSISVHTQTFLPSS	8.0	5.0	unscreened	-	4253_16:81077463-81077463 C>T_QTDLSFDSQVSLSISVHTQTFLPSS
4:20487879-20487879 C>T	0.0	4253	MELANOMA	-	-	-	-	SLIT2	NM_001289136,p.P199L|ENST00000273739,p.P199L|NM_001289135,p.P199L|ENST00000503823,p.P199L|NM_004787,p.P199L|ENST00000503837,p.P199L|uc003gpr.1,p.P199L|uc003gps.1,p.P199L|ENST00000504154,p.P199L	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon7	c.C596T	p.P199L	ITRLSVASFNHMPKLRTFRLHSNNL	ITRLSVASFNHMLKLRTFRLHSNNL	6.0	9.0	unscreened	-	4253_4:20487879-20487879 C>T_ITRLSVASFNHMLKLRTFRLHSNNL
19:9584893-9584893 C>T	1.0	4253	MELANOMA	-	-	-	-	ZNF560	NM_152476,p.E47K|ENST00000301480,p.E47K|uc002mlp.1,p.E47K	retained_intron, protein_coding	uc002mlp.1	nonsynonymous SNV	exon4	c.G139A	p.E47K	RNLYRDVMLENYENVAKVGFQLFKP	RNLYRDVMLENYKNVAKVGFQLFKP	8.0	2.0	unscreened	-	4253_19:9584893-9584893 C>T_RNLYRDVMLENYKNVAKVGFQLFKP
16:4498786-4498786 T>C	1.0	4253	MELANOMA	-	-	-	-	DNAJA3	ENST00000262375,p.I393T|NM_001286516,p.I240T|NM_005147,p.I393T|ENST00000431375,p.I240T|ENST00000355296,p.I393T|uc002cwl.3,p.I393T|uc010uxk.2,p.I240T|NM_001135110,p.I393T|uc002cwk.3,p.I393T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uxk.2	nonsynonymous SNV	exon7	c.T719C	p.I240T	QTDQKIRMGGKGIPRINSYGYGDHY	QTDQKIRMGGKGTPRINSYGYGDHY	9.0	5.0	unscreened	-	4253_16:4498786-4498786 T>C_QTDQKIRMGGKGTPRINSYGYGDHY
12:55945204-55945204 C>T	0.0	4253	MELANOMA	-	-	ID=COSM233012;OCCURENCE=1(skin)	-	OR6C4	ENST00000394256,p.S65F|uc010spp.2,p.S65F|NM_001005494,p.S65F	protein_coding	uc010spp.2	nonsynonymous SNV	exon1	c.C194T	p.S65F	LQTPMYFFLRNFSFLEISFTSIFIP	LQTPMYFFLRNFFFLEISFTSIFIP	1.0	7.0	unscreened	-	4253_12:55945204-55945204 C>T_LQTPMYFFLRNFFFLEISFTSIFIP
3:168806840-168806840 G>A	0.0	4253	MELANOMA	-	-	-	1	MECOM	NM_001105078,p.S990F|ENST00000464456,p.S981F|uc011bpk.1,p.S990F|NM_001105077,p.S1055F|ENST00000433243,p.S991F|ENST00000494292,p.S1169F|NM_005241,p.S990F|ENST00000264674,p.S1055F|uc011bpj.1,p.S1178F|uc003ffi.3,p.S990F|uc011bpi.1,p.S982F|ENST00000472280,p.S991F|uc010hwk.1,p.S1004F|uc003ffk.2,p.S981F|uc003ffj.3,p.S1055F|uc003ffl.2,p.S1141F|NM_001164000,p.S981F|NM_004991,p.S1178F|ENST00000468789,p.S990F|ENST00000392736,p.S990F|uc003ffn.3,p.S990F|NM_001205194,p.S990F|NM_001163999,p.S982F|ENST00000460814,p.S981F	retained_intron, protein_coding, processed_transcript	uc011bpk.1	nonsynonymous SNV	exon15	c.C2969T	p.S990F	QYSEAELSSFSTSHVPEELKQPLHR	QYSEAELSSFSTFHVPEELKQPLHR	5.0	3.0	unscreened	-	4253_3:168806840-168806840 G>A_QYSEAELSSFSTFHVPEELKQPLHR
4:155256256-155256256 C>T	0.0	4253	MELANOMA	-	-	-	-	DCHS2	NM_017639,p.G327E|uc003inw.2,p.G327E|ENST00000357232,p.G327E	protein_coding, processed_transcript	uc003inw.2	nonsynonymous SNV	exon8	c.G980A	p.G327E	RYVANLAKILGEGIIYLTLPLSHLE	RYVANLAKILGEEIIYLTLPLSHLE	2.0	6.0	unscreened	-	4253_4:155256256-155256256 C>T_RYVANLAKILGEEIIYLTLPLSHLE
8:24167450-24167450 G>A	0.0	4253	MELANOMA	-	-	ID=COSM142134;OCCURENCE=1(skin)	-	ADAM28	uc003xdx.3,p.G65E|uc003xdy.3,p.G65E|ENST00000437154,p.G65E|NM_014265,p.G65E|ENST00000520448,p.G65E|NM_021777,p.G65E|ENST00000265769,p.G65E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xdy.3	nonsynonymous SNV	exon3	c.G194A	p.G65E	FETELKYKMTINGKIAVLYLKKNKN	FETELKYKMTINEKIAVLYLKKNKN	7.0	5.0	unscreened	-	4253_8:24167450-24167450 G>A_FETELKYKMTINEKIAVLYLKKNKN
1:114442547-114442547 G>C	1.0	4253	MELANOMA	-	-	-	-	AP4B1	ENST00000369566,p.Q272E|uc010owq.2,p.Q272E	protein_coding, processed_transcript	uc010owq.2	nonsynonymous SNV	exon3	c.C814G	p.Q272E	RGYCTDVSADFAQAAIFAIGRCLLL	RGYCTDVSADFAEAAIFAIGRCLLL	8.0	8.0	unscreened	-	4253_1:114442547-114442547 G>C_RGYCTDVSADFAEAAIFAIGRCLLL
4:46334688-46334688 C>T	0.0	4253	MELANOMA	-	-	-	-	GABRA2	ENST00000356504,p.E67K|ENST00000515082,p.E67K|ENST00000503806,p.E67K|NM_000807,p.E67K|ENST00000507069,p.E67K|ENST00000381620,p.E67K|NM_001114175,p.E67K|ENST00000510233,p.E67K|uc003gxe.3,p.E67K|ENST00000510861,p.E67K|uc003gxc.3,p.E67K|ENST00000506961,p.E67K|uc010igc.2,p.E67K|ENST00000514090,p.E67K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010igc.2	nonsynonymous SNV	exon4	c.G199A	p.E67K	NRLRPGLGDSITEVFTNIYVTSFGP	NRLRPGLGDSITKVFTNIYVTSFGP	7.0	5.0	unscreened	-	4253_4:46334688-46334688 C>T_NRLRPGLGDSITKVFTNIYVTSFGP
14:105413731-105413731 G>A	0.0	4253	MELANOMA	-	-	-	-	AHNAK2	ENST00000333244,p.S2686F|uc010axc.1,p.S2686F|NM_138420,p.S2686F|uc001ypx.2,p.S2586F	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.C8057T	p.S2686F	SELKVEADMSLPSMQGDLKTTDISI	SELKVEADMSLPFMQGDLKTTDISI	7.0	1.0	unscreened	-	4253_14:105413731-105413731 G>A_SELKVEADMSLPFMQGDLKTTDISI
14:104220458-104220458 G>A	1.0	4253	MELANOMA	-	-	ID=COSM2025788;OCCURENCE=1(large_intestine)	-	PPP1R13B	uc001yof.1,p.R194C|NM_015316,p.R194C|ENST00000202556,p.R194C|uc001yog.1,p.R61C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001yog.1	nonsynonymous SNV	exon7	c.C181T	p.R61C	RVEAQENKLKKIRAMRGQVDYSKIM	RVEAQENKLKKICAMRGQVDYSKIM	7.0	9.0	unscreened	-	4253_14:104220458-104220458 G>A_RVEAQENKLKKICAMRGQVDYSKIM
11:1775122-1775122 G>A	1.0	4253	MELANOMA	-	-	-	-	CTSD	NM_001909,p.P328S|ENST00000236671,p.P328S|ENST00000429746,p.P105S|uc001luc.2,p.P328S	 protein_coding, nonsense_mediated_decay,retained_intron	uc001luc.2	nonsynonymous SNV	exon8	c.C982T	p.P328S	GAVPLIQGEYMIPCEKVSTLPAITL	GAVPLIQGEYMISCEKVSTLPAITL	10.0	1.0	unscreened	-	4253_11:1775122-1775122 G>A_GAVPLIQGEYMISCEKVSTLPAITL
1:220379291-220379291 G>A	1.0	4253	MELANOMA	-	-	-	-	RAB3GAP2	NM_012414,p.L224F|uc021pjf.1,p.L224F|ENST00000358951,p.L224F|uc010puk.1,p.L224F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pjf.1	nonsynonymous SNV	exon8	c.C670T	p.L224F	YPAAIVTIDGFSLFQSLRACRNQVA	YPAAIVTIDGFSFFQSLRACRNQVA	8.0	1.0	unscreened	-	4253_1:220379291-220379291 G>A_YPAAIVTIDGFSFFQSLRACRNQVA
17:72846421-72846421 G>A	0.0	4253	MELANOMA	-	-	-	-	GRIN2C	uc002jlt.1,p.S472F|ENST00000293190,p.S472F|NM_001278553,p.S472F|ENST00000347612,p.S472F|NM_000835,p.S472F|uc002jlu.1,p.S472F	retained_intron, protein_coding, processed_transcript	uc002jlu.1	nonsynonymous SNV	exon6	c.C1415T	p.S472F	DILKKLARVVKFSYDLYLVTNGKHG	DILKKLARVVKFFYDLYLVTNGKHG	6.0	5.0	unscreened	-	4253_17:72846421-72846421 G>A_DILKKLARVVKFFYDLYLVTNGKHG
3:194362826-194362826 G>A	1.0	4253	MELANOMA	0.0005	-	ID=COSM275938;OCCURENCE=1(large_intestine)	-	LSG1	ENST00000265245,p.R650C|NM_018385,p.R650C|uc003fui.3,p.R650C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fui.3	nonsynonymous SNV	exon14	c.C1948T	p.R650C	KKHGNRNKKEKSRRLYKHLDM	KKHGNRNKKEKSCRLYKHLDM	9.0	3.0	unscreened	-	4253_3:194362826-194362826 G>A_KKHGNRNKKEKSCRLYKHLDM
7:115596801-115596801 G>A	0.0	4253	MELANOMA	-	-	-	-	TFEC	ENST00000457268,p.S38L|ENST00000265440,p.S105L|uc003vhl.4,p.S76L|uc003vhm.2,p.S38L|uc003vhj.2,p.S105L|NM_001244583,p.S38L|ENST00000393485,p.S76L|uc003vhk.2,p.S76L|NM_001018058,p.S76L|NM_012252,p.S105L|ENST00000484212,p.S195L|ENST00000320239,p.S76L|uc011kmw.2,p.S195L	protein_coding, processed_transcript	uc011kmw.2	nonsynonymous SNV	exon6	c.C584T	p.S195L	SILDVYSGEQGISPINMGLTSASCP	SILDVYSGEQGILPINMGLTSASCP	7.0	4.0	unscreened	-	4253_7:115596801-115596801 G>A_SILDVYSGEQGILPINMGLTSASCP
2:70780318-70780318 C>T	0.0	4253	MELANOMA	-	-	-	-	TGFA	uc010fdr.3,p.G19E|ENST00000444975,p.G19E|ENST00000450929,p.G19E|uc010fdq.3,p.G19E	protein_coding, processed_transcript	uc010fdr.3	nonsynonymous SNV	exon1	c.G56A	p.G19E	GALDLFSELLSFGGIVLAACQALEN	GALDLFSELLSFEGIVLAACQALEN	7.0	1.0	unscreened	-	4253_2:70780318-70780318 C>T_GALDLFSELLSFEGIVLAACQALEN
22:19839513-19839513 G>C	1.0	4253	MELANOMA	-	-	-	-	C22orf29	uc002zqg.3,p.P91R|uc002zqh.3,p.P91R|uc021wli.1,p.P91R|ENST00000405640,p.P91R|uc002zqi.3,p.P91R|ENST00000328554,p.P91R|ENST00000407472,p.P91R|NM_024627,p.P91R	protein_coding, processed_transcript	uc021wli.1	nonsynonymous SNV	exon1	c.C272G	p.P91R	RGPLAGHMPSSRPHRVDFCWVPGSD	RGPLAGHMPSSRRHRVDFCWVPGSD	8.0	5.0	-	-	4253_22:19839513-19839513 G>C_RGPLAGHMPSSRRHRVDFCWVPGSD
17:64125920-64125920 G>A	1.0	4253	MELANOMA	-	-	-	-	CEP112	uc010dep.2,p.P196S|NM_145036,p.P196S|NM_001199165,p.P196S|ENST00000537949,p.P196S|ENST00000583358,p.P196S|ENST00000392769,p.P196S|uc002jfl.3,p.P196S|ENST00000535342,p.P196S|uc002jfm.3,p.P196S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dep.2	nonsynonymous SNV	exon6	c.C586T	p.P196S	TPKICEVYSKKSPVSLDDSDIEARL	TPKICEVYSKKSSVSLDDSDIEARL	9.0	4.0	-	-	4253_17:64125920-64125920 G>A_TPKICEVYSKKSSVSLDDSDIEARL
10:103987387-103987387 A>G	0.0	4253	MELANOMA	-	-	-	-	ELOVL3	ENST00000370005,p.T36A|NM_152310,p.T36A|uc001kut.3,p.T36A	protein_coding	uc001kut.3	nonsynonymous SNV	exon2	c.A106G	p.T36A	KDMRPFFEEYWATSFPIALIYLVLI	KDMRPFFEEYWAASFPIALIYLVLI	5.0	9.0	unscreened	-	4253_10:103987387-103987387 A>G_KDMRPFFEEYWAASFPIALIYLVLI
15:100801807-100801807 G>A	1.0	4253	MELANOMA	-	-	-	-	ADAMTS17	uc002bvv.1,p.S303F|ENST00000268070,p.S303F|NM_139057,p.S303F|uc002bvx.1,p.S60F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bvx.1	nonsynonymous SNV	exon5	c.C179T	p.S60F	PAKLSIGHHGERSLESFCHWQNEEY	PAKLSIGHHGERFLESFCHWQNEEY	6.0	9.0	unscreened	-	4253_15:100801807-100801807 G>A_PAKLSIGHHGERFLESFCHWQNEEY
14:20774075-20774075 C>T	1.0	4253	MELANOMA	-	-	-	-	TTC5	ENST00000383029,p.E8K|ENST00000258821,p.E8K|uc001vwt.3,p.E8K|NM_138376,p.E8K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vwt.3	nonsynonymous SNV	exon1	c.G22A	p.E8K	MMADEEEEVKPILQKLQELV	MMADEEEKVKPILQKLQELV	8.0	2.0	unscreened	-	4253_14:20774075-20774075 C>T_MMADEEEKVKPILQKLQELV
9:87342653-87342653 C>T	1.0	4253	MELANOMA	-	-	-	-	NTRK2	ENST00000376208,p.P313L|uc004aob.1,p.P313L|NM_001018065,p.P313L|ENST00000277120,p.P313L|NM_006180,p.P313L|NM_001018064,p.P313L|ENST00000395882,p.P313L|ENST00000376214,p.P313L|uc011ltb.1,p.P157L|ENST00000304053,p.P313L|NM_001018066,p.P313L|NM_001291937,p.P300L|uc004anv.1,p.P300L|NM_001007097,p.P313L|uc011lsz.2,p.P313L|ENST00000376213,p.P313L|uc011lta.2,p.P313L|uc004anz.1,p.P313L|uc004aoa.1,p.P313L|uc004any.1,p.P313L|ENST00000395866,p.P157L|ENST00000359847,p.P313L|ENST00000323115,p.P313L	protein_coding	uc011ltb.1	nonsynonymous SNV	exon8	c.C470T	p.P157L	WCIPFTVKGNPKPALQWFYNGAILN	WCIPFTVKGNPKLALQWFYNGAILN	6.0	10.0	unscreened	-	4253_9:87342653-87342653 C>T_WCIPFTVKGNPKLALQWFYNGAILN
3:169998141-169998141 C>T	1.0	4253	MELANOMA	-	-	ID=COSM284260;OCCURENCE=1(large_intestine)	-	PRKCI	uc003fgs.2,p.R278C|ENST00000295797,p.R278C|NM_002740,p.R278C	retained_intron, protein_coding	uc003fgs.2	nonsynonymous SNV	exon9	c.C832T	p.R278C	AKVLLVRLKKTDRIYAMKVVKKELV	AKVLLVRLKKTDCIYAMKVVKKELV	7.0	2.0	unscreened	-	4253_3:169998141-169998141 C>T_AKVLLVRLKKTDCIYAMKVVKKELV
17:74141402-74141402 G>A	1.0	4253	MELANOMA	-	-	-	-	RNF157	NM_052916,p.R652W|uc002jra.3,p.R630W|ENST00000319945,p.R630W|ENST00000269391,p.R652W|uc002jqz.3,p.R652W	retained_intron, protein_coding, processed_transcript	uc002jra.3	nonsynonymous SNV	exon18	c.C1888T	p.R630W	PGAWQADDNAVSRNAQRRRLSSSSL	PGAWQADDNAVSWNAQRRRLSSSSL	9.0	6.0	unscreened	-	4253_17:74141402-74141402 G>A_PGAWQADDNAVSWNAQRRRLSSSSL
19:38995545-38995545 C>T	0.0	4253	MELANOMA	-	-	-	-	RYR1	ENST00000360985,p.T2742I|NM_000540,p.T2742I|ENST00000359596,p.T2742I|uc002oit.3,p.T2742I|uc002oiu.3,p.T2742I|NM_001042723,p.T2742I|ENST00000355481,p.T2742I	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon51	c.C8225T	p.T2742I	DAEGNFDPRPVETLNVIIPEKLDSF	DAEGNFDPRPVEILNVIIPEKLDSF	7.0	3.0	unscreened	-	4253_19:38995545-38995545 C>T_DAEGNFDPRPVEILNVIIPEKLDSF
14:105414736-105414736 T>G	0.0	4253	MELANOMA	-	-	-	-	AHNAK2	uc001ypx.2,p.D2251A|ENST00000333244,p.D2351A|NM_138420,p.D2351A|uc010axc.1,p.D2351A	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.A7052C	p.D2351A	ASADVSALKVEADVSLPSMQGDLKT	ASADVSALKVEAAVSLPSMQGDLKT	7.0	1.0	unscreened	-	4253_14:105414736-105414736 T>G_ASADVSALKVEAAVSLPSMQGDLKT
1:110019517-110019517 C>T	1.0	4253	MELANOMA	-	-	-	-	SYPL2	ENST00000401021,p.S125F|NM_001040709,p.S125F|uc001dxp.3,p.S125F|uc010ovk.2,p.S125F|uc001dxo.2,p.S125F|uc001dxq.2,p.S33F|ENST00000369872,p.S125F	protein_coding, processed_transcript	uc010ovk.2	nonsynonymous SNV	exon4	c.C374T	p.S125F	APAEFFVTLGIFSFFYTMAALVIYL	APAEFFVTLGIFFFFYTMAALVIYL	6.0	1.0	unscreened	-	4253_1:110019517-110019517 C>T_APAEFFVTLGIFFFFYTMAALVIYL
6:3410547-3410547 G>A	1.0	4253	MELANOMA	-	-	-	-	SLC22A23	NM_001286456,p.S263F|ENST00000467177,p.S89F|uc003mvm.3,p.S263F|uc010jnn.3,p.S263F|ENST00000380298,p.S263F|ENST00000406686,p.S263F|ENST00000436008,p.S263F|NM_015482,p.S263F|ENST00000485307,p.S91F|uc010jno.2,p.S263F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jno.2	nonsynonymous SNV	exon3	c.C788T	p.S263F	ADWVGRRPVLLFSIIFILIFGLTVA	ADWVGRRPVLLFFIIFILIFGLTVA	7.0	6.0	unscreened	-	4253_6:3410547-3410547 G>A_ADWVGRRPVLLFFIIFILIFGLTVA
9:137642436-137642436 C>T	1.0	4253	MELANOMA	-	-	-	-	COL5A1	uc004cfe.4,p.P515S|ENST00000371817,p.P515S|NM_001278074,p.P515S|uc031tfl.1,p.P515S|NM_000093,p.P515S	retained_intron, protein_coding, processed_transcript	uc031tfl.1	nonsynonymous SNV	exon12	c.C1543T	p.P515S	RPGLPGADGLPGPPGTMLMLPFRFG	RPGLPGADGLPGSPGTMLMLPFRFG	9.0	10.0	unscreened	-	4253_9:137642436-137642436 C>T_RPGLPGADGLPGSPGTMLMLPFRFG
19:3779003-3779003 G>A	1.0	4253	MELANOMA	-	-	-	-	MATK	uc010dtq.3,p.A395V|ENST00000585778,p.A395V	protein_coding, processed_transcript	uc010dtq.3	nonsynonymous SNV	exon12	c.C1184T	p.A395V	SSRLPVKWTAPEALKHGFTSKSDVW	SSRLPVKWTAPEVLKHGFTSKSDVW	7.0	3.0	unscreened	-	4253_19:3779003-3779003 G>A_SSRLPVKWTAPEVLKHGFTSKSDVW
1:171247961-171247961 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1689168;OCCURENCE=2(skin)	-	FMO1	NM_002021,p.G193E|ENST00000367750,p.G193E|NM_001282693,p.G193E|NM_001282694,p.G130E|NM_001282692,p.G197E|ENST00000354841,p.G193E|uc001ghl.3,p.G193E|ENST00000402921,p.G130E|ENST00000433267,p.G193E|uc009wvz.3,p.G193E|uc010pme.2,p.G130E|uc001ghm.3,p.G193E	protein_coding, processed_transcript	uc010pme.2	nonsynonymous SNV	exon4	c.G389A	p.G130E	IFKDKRVLVIGMGNSGTDIAVEASH	IFKDKRVLVIGMENSGTDIAVEASH	5.0	7.0	unscreened	-	4253_1:171247961-171247961 G>A_IFKDKRVLVIGMENSGTDIAVEASH
3:148925284-148925284 C>T	0.0	4253	MELANOMA	-	-	-	-	CP	uc003ewy.4,p.G301E|ENST00000264613,p.G301E|ENST00000481169,p.G301E|uc003ewz.3,p.G301E|NM_000096,p.G301E|uc010hvf.1,p.G27E|ENST00000494544,p.G84E|uc003ewx.4,p.G82E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hvf.1	nonsynonymous SNV	exon1	c.G80A	p.G27E	GNEVDVHAAFFHGQALTNKNYRIDT	GNEVDVHAAFFHEQALTNKNYRIDT	6.0	3.0	unscreened	-	4253_3:148925284-148925284 C>T_GNEVDVHAAFFHEQALTNKNYRIDT
16:79633240-79633240 T>G	1.0	4253	MELANOMA	-	-	-	1	MAF	ENST00000393350,p.H187P|uc002ffn.3,p.H187P|ENST00000569649,p.H187P|NM_005360,p.H187P|NM_001031804,p.H187P|ENST00000326043,p.H187P|uc002ffm.3,p.H187P	protein_coding	uc002ffn.3	nonsynonymous SNV	exon1	c.A560C	p.H187P	SGAGPHYHHHHHHAAGHHHHPTAGA	SGAGPHYHHHHHPAAGHHHHPTAGA	9.0	1.0	unscreened	-	4253_16:79633240-79633240 T>G_SGAGPHYHHHHHPAAGHHHHPTAGA
4:56883962-56883979 TTGATTCAGGCAAAGATA>-	1.0	4253	MELANOMA	-	-	-	-	CEP135	NM_025009,p.984_990del|uc003hbi.4,p.984_990del|ENST00000257287,p.984_990del|uc003hbj.4,p.690_696del	retained_intron, protein_coding	uc003hbj.4	nonframeshift deletion	exon15	c.2069_2086del	p.690_696del	NDLSSLRELCIKLDSGKDIMTQQLN	NDLSSLRELCIKLMTQQLNSKNLEF	7.0	3.0	unscreened	-	4253_4:56883962-56883979 TTGATTCAGGCAAAGATA>-_NDLSSLRELCIKLMTQQLNSKNLEF
2:27315292-27315292 C>T	0.0	4253	MELANOMA	-	-	-	-	KHK	NM_000221,p.S62L|ENST00000429697,p.S62L|ENST00000260599,p.S62L|uc002ril.2,p.S62L	retained_intron, protein_coding, processed_transcript	uc002ril.2	nonsynonymous SNV	exon2	c.C185T	p.S62L	LSLLGAPCAFMGSMAPGHVADFVLD	LSLLGAPCAFMGLMAPGHVADFVLD	6.0	3.0	unscreened	-	4253_2:27315292-27315292 C>T_LSLLGAPCAFMGLMAPGHVADFVLD
2:182360551-182360551 C>T	0.0	4253	MELANOMA	-	-	-	-	ITGA4	ENST00000397033,p.P476L|ENST00000233573,p.P476L|uc002unu.3,p.P476L|NM_000885,p.P476L	retained_intron, protein_coding, processed_transcript	uc002unu.3	nonsynonymous SNV	exon14	c.C1427T	p.P476L	RPVVIVDASLSHPESVNRTKFDCVE	RPVVIVDASLSHLESVNRTKFDCVE	7.0	2.0	unscreened	-	4253_2:182360551-182360551 C>T_RPVVIVDASLSHLESVNRTKFDCVE
11:92881758-92881758 G>A	1.0	4253	MELANOMA	-	-	-	-	SLC36A4	NM_152313,p.P487L|uc001pdn.3,p.P487L|NM_001286139,p.P352L|ENST00000529184,p.P352L|uc001pdm.3,p.P352L|ENST00000326402,p.P487L	retained_intron, protein_coding, nonsense_mediated_decay	uc001pdn.3	nonsynonymous SNV	exon11	c.C1460T	p.P487L	IIYPTPKVVAGTPQSPFLNLNSTCL	IIYPTPKVVAGTLQSPFLNLNSTCL	6.0	8.0	unscreened	-	4253_11:92881758-92881758 G>A_IIYPTPKVVAGTLQSPFLNLNSTCL
5:121761156-121761156 C>T	0.0	4253	MELANOMA	-	-	-	-	SNCAIP	ENST00000261367,p.S418F|uc010jct.3,p.S371F|NM_005460,p.S371F|uc003ksw.1,p.S371F|ENST00000379533,p.S418F|ENST00000395469,p.S418F|uc010jcw.1,p.S65F|uc003ksx.1,p.S418F|ENST00000261368,p.S371F|ENST00000503116,p.S418F	retained_intron, protein_coding, nonsense_mediated_decay	uc010jcw.1	nonsynonymous SNV	exon3	c.C194T	p.S65F	SQGHAECLQHLTSLMGEDCLNERNT	SQGHAECLQHLTFLMGEDCLNERNT	5.0	7.0	unscreened	-	4253_5:121761156-121761156 C>T_SQGHAECLQHLTFLMGEDCLNERNT
12:76425047-76425047 G>T	1.0	4253	MELANOMA	-	-	-	-	PHLDA1	ENST00000266671,p.R159S|NM_007350,p.R159S|ENST00000602540,p.R18S|uc021rax.1,p.R159S|uc001sxu.3,p.R159S	protein_coding	uc021rax.1	nonsynonymous SNV	exon1	c.C475A	p.R159S	GCKALKEGVLEKRSDGLLQLWKKKC	GCKALKEGVLEKSSDGLLQLWKKKC	8.0	10.0	unscreened	-	4253_12:76425047-76425047 G>T_GCKALKEGVLEKSSDGLLQLWKKKC
17:5009154-5009154 G>A	1.0	4253	MELANOMA	-	-	-	-	ZNF232	uc002gat.3,p.R434W|uc002gar.1,p.R425W|ENST00000250076,p.R434W|ENST00000575898,p.R425W|NM_014519,p.R434W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gat.3	nonsynonymous SNV	exon5	c.C1300T	p.R434W	KAYGWCSELIRHRRVHARKEPSH	KAYGWCSELIRHWRVHARKEPSH	8.0	7.0	unscreened	-	4253_17:5009154-5009154 G>A_KAYGWCSELIRHWRVHARKEPSH
16:8844363-8844363 G>A	0.0	4253	MELANOMA	-	-	-	-	ABAT	ENST00000562115,p.D95N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000562115	nonsynonymous SNV	exon5	c.G283A	p.D95N	NYLVDVDGNRMLDLYSQISSVPIES	NYLVDVDGNRMLNLYSQISSVPIES	6.0	7.0	unscreened	-	4253_16:8844363-8844363 G>A_NYLVDVDGNRMLNLYSQISSVPIES
11:56114391-56114391 C>T	0.0	4253	MELANOMA	-	-	ID=COSM394394;OCCURENCE=1(lung)	-	OR8K1	NM_001002907,p.P293S|uc010rjg.2,p.P293S|ENST00000279783,p.P293S	protein_coding	uc010rjg.2	nonsynonymous SNV	exon1	c.C877T	p.P293S	SVFYTLLIPMLNPLIYSLRNKEVKD	SVFYTLLIPMLNSLIYSLRNKEVKD	1.0	8.0	unscreened	-	4253_11:56114391-56114391 C>T_SVFYTLLIPMLNSLIYSLRNKEVKD
2:1657427-1657427 C>T	0.0	4253	MELANOMA	-	-	-	-	PXDN	uc002qxb.1,p.G693S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qxb.1	nonsynonymous SNV	exon16	c.G2077A	p.G693S	RTLQLIQEHVQHGLMVDLNGTSQCQ	RTLQLIQEHVQHSLMVDLNGTSQCQ	9.0	9.0	unscreened	-	4253_2:1657427-1657427 C>T_RTLQLIQEHVQHSLMVDLNGTSQCQ
12:31944983-31944983 G>A	0.0	4253	MELANOMA	-	-	ID=COSM261223;OCCURENCE=1(large_intestine),1(skin)	-	H3F3C	ENST00000340398,p.R40C|uc001rkr.3,p.R40C|NM_001013699,p.R40C	protein_coding	uc001rkr.3	nonsynonymous SNV	exon1	c.C118T	p.R40C	KSTPSTCGVKPHRYRPGTVALREIR	KSTPSTCGVKPHCYRPGTVALREIR	7.0	2.0	unscreened	-	4253_12:31944983-31944983 G>A_KSTPSTCGVKPHCYRPGTVALREIR
19:42471871-42471871 G>A	0.0	4253	MELANOMA	-	-	-	-	ATP1A3	uc002osh.4,p.A955V|ENST00000602133,p.A925V|uc002osg.4,p.A955V|ENST00000543770,p.A966V|uc010xwf.2,p.A966V|uc010xwg.2,p.A925V|ENST00000441343,p.A955V|NM_001256213,p.A966V|ENST00000545399,p.A968V|NM_152296,p.A955V|NM_001256214,p.A968V|ENST00000302102,p.A955V|uc010xwh.3,p.A968V	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xwh.3	nonsynonymous SNV	exon21	c.C2903T	p.A968V	ILIFGLFEETALAAFLSYCPGMDVA	ILIFGLFEETALVAFLSYCPGMDVA	2.0	8.0	unscreened	-	4253_19:42471871-42471871 G>A_ILIFGLFEETALVAFLSYCPGMDVA
18:54398786-54398786 A>C	0.0	4253	MELANOMA	-	-	-	-	WDR7	uc002lgl.1,p.Q649H|ENST00000587403,p.Q51H|NM_052834,p.Q649H|ENST00000357574,p.Q649H|ENST00000254442,p.Q649H|NM_015285,p.Q649H|uc002lgk.1,p.Q649H|ENST00000585824,p.Q51H|ENST00000590557,p.Q70H	retained_intron, protein_coding, nonsense_mediated_decay	uc002lgl.1	nonsynonymous SNV	exon14	c.A1947C	p.Q649H	LAALKNMAHHKLQTLATNLLASEAS	LAALKNMAHHKLHTLATNLLASEAS	6.0	3.0	unscreened	-	4253_18:54398786-54398786 A>C_LAALKNMAHHKLHTLATNLLASEAS
6:49917112-49917112 G>A	0.0	4253	MELANOMA	-	-	-	-	DEFB133	NM_001166478,p.P16S|ENST00000398721,p.P16S|uc003ozy.2,p.P16S	protein_coding	uc003ozy.2	nonsynonymous SNV	exon1	c.C46T	p.P16S	HVFLFVLFFFLVPIATRVKCAVKDT	HVFLFVLFFFLVSIATRVKCAVKDT	1.0	2.0	unscreened	-	4253_6:49917112-49917112 G>A_HVFLFVLFFFLVSIATRVKCAVKDT
5:16067587-16067587 G>A	1.0	4253	MELANOMA	-	-	-	-	MARCH11	NM_001102562,p.S401L|uc003jfo.2,p.S401L|ENST00000332432,p.S401L|uc010itw.1,p.S157L	protein_coding, processed_transcript	uc010itw.1	nonsynonymous SNV	exon2	c.C470T	p.S157L	DNSSGEVVMRVTSV	DNSSGEVVMRVTLV	6.0	6.0	unscreened	-	4253_5:16067587-16067587 G>A_DNSSGEVVMRVTLV
2:86386724-86386724 G>A	1.0	4253	MELANOMA	-	-	-	-	IMMT	uc002sra.4,p.H322Y|uc002sre.3,p.H311Y|NM_001100169,p.H322Y|NM_001100170,p.H312Y|uc010fgs.1,p.H320Y|ENST00000409051,p.H276Y|uc010ytf.1,p.H245Y|uc002srb.4,p.H312Y|ENST00000442664,p.H322Y|uc010yte.2,p.H276Y|ENST00000254636,p.H224Y|ENST00000410111,p.H323Y|NM_006839,p.H323Y|ENST00000449247,p.H312Y|uc002sqz.4,p.H323Y|uc002sqy.4,p.H64Y|uc002src.1,p.H64Y|uc010ytd.2,p.H311Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ytf.1	nonsynonymous SNV	exon7	c.C733T	p.H245Y	NAKKKEVAGAKPHITAAEGKLHNMI	NAKKKEVAGAKPYITAAEGKLHNMI	9.0	3.0	unscreened	-	4253_2:86386724-86386724 G>A_NAKKKEVAGAKPYITAAEGKLHNMI
3:169820495-169820495 G>A	1.0	4253	MELANOMA	-	-	-	-	PHC3	ENST00000494943,p.P857S|uc010hws.1,p.P857S|ENST00000495893,p.P869S|NM_024947,p.P869S|uc003fgl.2,p.P869S	retained_intron, protein_coding, nonsense_mediated_decay	uc010hws.1	nonsynonymous SNV	exon14	c.C2569T	p.P857S	DGAAREHILRQLPITYPSAEEDLAS	DGAAREHILRQLSITYPSAEEDLAS	7.0	8.0	unscreened	-	4253_3:169820495-169820495 G>A_DGAAREHILRQLSITYPSAEEDLAS
16:8844363-8844363 G>A	0.0	4253	MELANOMA	-	-	-	-	ABAT	uc010bui.3,p.D95N|ENST00000567812,p.D110N|ENST00000569156,p.D95N|uc002czc.4,p.D95N|ENST00000425191,p.D95N|ENST00000268251,p.D95N|NM_000663,p.D95N|NM_020686,p.D95N|uc010buh.3,p.D37N|uc002czd.4,p.D95N|ENST00000396600,p.D95N|NM_001127448,p.D95N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bui.3	nonsynonymous SNV	exon5	c.G283A	p.D95N	NYLVDVDGNRMLDLYSQISSVPIGY	NYLVDVDGNRMLNLYSQISSVPIGY	6.0	7.0	unscreened	-	4253_16:8844363-8844363 G>A_NYLVDVDGNRMLNLYSQISSVPIGY
4:858996-858996 G>A	1.0	4253	MELANOMA	-	-	-	-	GAK	ENST00000511163,p.S948L|uc003gbl.4,p.S880L|ENST00000314167,p.S1027L|NM_005255,p.S1027L|uc003gbm.4,p.S1027L|NM_001286833,p.S929L|uc003gbn.4,p.S948L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gbn.4	nonsynonymous SNV	exon20	c.C2843T	p.S948L	GDLPGEPSKMTASSSNPDLLGGWAA	GDLPGEPSKMTALSSNPDLLGGWAA	10.0	9.0	unscreened	-	4253_4:858996-858996 G>A_GDLPGEPSKMTALSSNPDLLGGWAA
2:3217932-3217932 C>T	1.0	4253	MELANOMA	-	-	-	-	TSSC1	ENST00000435721,p.R116Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000435721	nonsynonymous SNV	exon4	c.G347A	p.R116Q	ITISCCGIYRKARARLCWPAQRPWK	ITISCCGIYRKAQARLCWPAQRPWK	8.0	2.0	unscreened	-	4253_2:3217932-3217932 C>T_ITISCCGIYRKAQARLCWPAQRPWK
2:113089973-113089973 A>-	1.0	4253	MELANOMA	-	-	-	-	ZC3H6	NM_198581,p.T1160fs|ENST00000343936,p.T1160fs|ENST00000409871,p.T1160fs|uc002thq.1,p.T1160fs	retained_intron, protein_coding	uc002thq.1	frameshift deletion	exon12	c.3478delA	p.T1160fs	PRQARQPGQGSPTPDNDPGRETDDK	PRQARQPGQGSPPQIMIPVEKQMTNL	9.0	7.0	unscreened	-	4253_2:113089973-113089973 A>-_PRQARQPGQGSPPQIMIPVEKQMTNL
19:5222732-5222732 G>A	1.0	4253	MELANOMA	-	-	-	-	PTPRS	ENST00000588012,p.P1002L|ENST00000348075,p.P1002L|ENST00000262963,p.P1020L|ENST00000587303,p.P1024L|ENST00000357368,p.P1024L|NM_002850,p.P1024L|uc002mbw.3,p.P1002L|ENST00000372412,p.P1025L|NM_130854,p.P1002L|uc002mbv.3,p.P1024L	retained_intron, protein_coding, processed_transcript	uc002mbw.3	nonsynonymous SNV	exon14	c.C3005T	p.P1002L	AHTRRGPGPFSPPVRYRTFLRDQVS	AHTRRGPGPFSPLVRYRTFLRDQVS	9.0	9.0	unscreened	-	4253_19:5222732-5222732 G>A_AHTRRGPGPFSPLVRYRTFLRDQVS
19:50209220-50209220 G>A	0.0	4253	MELANOMA	-	-	-	-	CPT1C	uc002ppk.3,p.R329Q|uc002ppi.3,p.R257Q|uc010enh.3,p.R340Q|NM_001199753,p.R340Q|uc002ppl.4,p.R306Q|NM_001199752,p.R340Q|NM_001136052,p.R329Q|ENST00000598293,p.R340Q|ENST00000323446,p.R340Q|NM_152359,p.R340Q|uc010eng.3,p.R340Q|uc002ppj.3,p.R340Q|uc010ybc.1,p.R211Q|ENST00000354199,p.R340Q|ENST00000392518,p.R340Q|ENST00000405931,p.R329Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ybc.1	nonsynonymous SNV	exon8	c.G632A	p.R211Q	HDSQHVAVFHRGRFFRMGTHSRNSL	HDSQHVAVFHRGQFFRMGTHSRNSL	9.0	9.0	-	-	4253_19:50209220-50209220 G>A_HDSQHVAVFHRGQFFRMGTHSRNSL
12:113874596-113874596 G>A	1.0	4253	MELANOMA	-	-	-	-	SDSL	ENST00000551760,p.A31T|ENST00000345635,p.A238T|ENST00000403593,p.A238T|uc001tvi.3,p.A238T|NM_138432,p.A238T|uc009zwh.3,p.A238T	protein_coding	uc009zwh.3	nonsynonymous SNV	exon7	c.G712A	p.A238T	AKSLGAKTVAARALECMQVCKIHSE	AKSLGAKTVAARTLECMQVCKIHSE	9.0	1.0	unscreened	-	4253_12:113874596-113874596 G>A_AKSLGAKTVAARTLECMQVCKIHSE
14:55650330-55650330 A>G	0.0	4253	MELANOMA	-	-	-	-	DLGAP5	ENST00000247191,p.M127T|ENST00000395425,p.M127T|ENST00000557645,p.M127T|uc001xbt.3,p.M127T|NM_014750,p.M127T|NM_001146015,p.M127T|uc001xbs.3,p.M127T	retained_intron, protein_coding	uc001xbt.3	nonsynonymous SNV	exon3	c.T380C	p.M127T	RGIFKVGRYRPDMPCFLLSNQNAVK	RGIFKVGRYRPDTPCFLLSNQNAVK	7.0	3.0	unscreened	-	4253_14:55650330-55650330 A>G_RGIFKVGRYRPDTPCFLLSNQNAVK
1:206579910-206579910 G>A	1.0	4253	MELANOMA	-	-	-	-	SRGAP2,SRGAP2B,SRGAP2C	uc010prt.1,p.E281K|ENST00000439126,p.E59K|ENST00000414007,p.E305K|uc031pry.1,p.E55K|uc010prv.1,p.E282K	protein_coding, processed_transcript	uc031pry.1	nonsynonymous SNV	exon1	c.G163A	p.E55K	KPSIAKRRANQQETEQFYFTKMKEY	KPSIAKRRANQQKTEQFYFTKMKEY	10.0	1.0	unscreened	-	4253_1:206579910-206579910 G>A_KPSIAKRRANQQKTEQFYFTKMKEY
6:117128119-117128119 G>A	0.0	4253	MELANOMA	-	-	-	-	GPRC6A	ENST00000310357,p.S250L|ENST00000368549,p.S250L|NM_148963,p.S250L|uc003pxl.1,p.S250L|NM_001286355,p.S250L|ENST00000530250,p.S250L|NM_001286354,p.S250L|uc003pxk.1,p.S250L|uc003pxj.1,p.S250L	protein_coding	uc003pxl.1	nonsynonymous SNV	exon3	c.C749T	p.S250L	CIAFKEVLPAFLSDNTIEVRINRTL	CIAFKEVLPAFLLDNTIEVRINRTL	3.0	10.0	unscreened	-	4253_6:117128119-117128119 G>A_CIAFKEVLPAFLLDNTIEVRINRTL
20:33509192-33509192 C>T	1.0	4253	MELANOMA	-	-	-	-	ACSS2	NM_001076552,p.A459V|uc002xbc.2,p.A351V|uc010gey.2,p.A459V|ENST00000336325,p.A396V|NM_018677,p.A446V|ENST00000253382,p.A459V|uc002xbe.2,p.A154V|uc002xbd.2,p.A446V|ENST00000360596,p.A446V|NM_001242393,p.A351V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010gey.2	nonsynonymous SNV	exon12	c.C1376T	p.A459V	VLGTVGEPINPEAWLWYHRVVGAQR	VLGTVGEPINPEVWLWYHRVVGAQR	9.0	8.0	unscreened	-	4253_20:33509192-33509192 C>T_VLGTVGEPINPEVWLWYHRVVGAQR
8:25364098-25364098 T>G	1.0	4253	MELANOMA	-	-	-	-	CDCA2	uc003xeq.1,p.L624W|ENST00000330560,p.L639W|uc003xer.1,p.L302W|NM_152562,p.L639W|ENST00000380665,p.L624W|uc003xep.1,p.L639W	protein_coding, processed_transcript	uc003xer.1	nonsynonymous SNV	exon11	c.T905G	p.L302W	KTPKNPVKRKDLLRHDPDLHMHQGY	KTPKNPVKRKDLWRHDPDLHMHQGY	7.0	6.0	unscreened	-	4253_8:25364098-25364098 T>G_KTPKNPVKRKDLWRHDPDLHMHQGY
14:70924275-70924275 G>A	0.0	4253	MELANOMA	-	-	-	-	ADAM21	NM_003813,p.G20E|ENST00000603540,p.G20E|ENST00000267499,p.G20E|uc001xmd.3,p.G20E|uc021rvq.1,p.G20E	protein_coding	uc021rvq.1	nonsynonymous SNV	exon1	c.G59A	p.G20E	VYIRVTLLLLWLGVFLSISGYCQAG	VYIRVTLLLLWLEVFLSISGYCQAG	3.0	2.0	unscreened	-	4253_14:70924275-70924275 G>A_VYIRVTLLLLWLEVFLSISGYCQAG
19:58477955-58477955 G>A	0.0	4253	MELANOMA	-	-	ID=COSM170391;OCCURENCE=1(skin),1(large_intestine)	-	C19orf18	uc002qqv.3,p.S105L|ENST00000314391,p.S105L|NM_152474,p.S105L	protein_coding	uc002qqv.3	nonsynonymous SNV	exon4	c.C314T	p.S105L	RHRPALVKVILISSVAFSIALICGM	RHRPALVKVILILSVAFSIALICGM	7.0	7.0	unscreened	-	4253_19:58477955-58477955 G>A_RHRPALVKVILILSVAFSIALICGM
6:31997802-31997802 C>T	1.0	4253	MELANOMA	-	-	-	-	C4A,C4B,C4B_2	ENST00000435363,p.R1352C|NM_007293,p.R1352C|NM_001252204,p.R1352C|NM_001002029,p.R1352C|NM_001242823,p.R1352C|ENST00000425700,p.R1352C|uc011dpd.2,p.R1352C|uc011dpe.2,p.R1352C	retained_intron, protein_coding, processed_transcript	uc011dpe.2	nonsynonymous SNV	exon30	c.C4054T	p.R1352C	KSHALQLNNRQIRGLEEELQFSLGS	KSHALQLNNRQICGLEEELQFSLGS	9.0	1.0	unscreened	-	4253_6:31997802-31997802 C>T_KSHALQLNNRQICGLEEELQFSLGS
3:100174654-100174654 G>A	1.0	4253	MELANOMA	-	-	-	-	LNP1	ENST00000383693,p.E141K|NM_001085451,p.E141K|uc003dtx.4,p.E141K|ENST00000489752,p.E154K	protein_coding, nonsense_mediated_decay	uc003dtx.4	nonsynonymous SNV	exon4	c.G421A	p.E141K	LGPESRKERNERECLRMEIKSRKKV	LGPESRKERNERKCLRMEIKSRKKV	8.0	9.0	unscreened	-	4253_3:100174654-100174654 G>A_LGPESRKERNERKCLRMEIKSRKKV
5:102519050-102519050 C>T	1.0	4253	MELANOMA	-	-	-	-	PPIP5K2	NM_015216,p.S1013F|NM_001276277,p.S1013F|uc003koe.4,p.S1013F|ENST00000358359,p.S1013F|uc003kod.5,p.S1013F|ENST00000321521,p.S1013F|ENST00000414217,p.S1013F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003koe.4	nonsynonymous SNV	exon24	c.C3038T	p.S1013F	RRRRRSGEQITSSPVSPKSLAFTSS	RRRRRSGEQITSFPVSPKSLAFTSS	8.0	7.0	-	-	4253_5:102519050-102519050 C>T_RRRRRSGEQITSFPVSPKSLAFTSS
12:112926260-112926260 C>T	1.0	4253	MELANOMA	-	-	-	1	PTPN11	NM_002834,p.R465W|uc001ttx.3,p.R465W|ENST00000351677,p.R465W	protein_coding, processed_transcript	uc001ttx.3	nonsynonymous SNV	exon12	c.C1393T	p.R465W	GPVVVHCSAGIGRTGTFIVIDILID	GPVVVHCSAGIGWTGTFIVIDILID	8.0	6.0	unscreened	-	4253_12:112926260-112926260 C>T_GPVVVHCSAGIGWTGTFIVIDILID
8:134057324-134057324 T>A	0.0	4253	MELANOMA	-	-	-	-	SLA	uc011ljd.2,p.K170M|uc003ytz.3,p.K130M|NM_006748,p.K170M|ENST00000395352,p.K147M|NM_001282965,p.K22M|uc011ljf.2,p.K22M|NM_001045557,p.K147M|ENST00000524345,p.K22M|ENST00000338087,p.K130M|ENST00000522119,p.K130M|ENST00000427060,p.K170M|NM_001045556,p.K130M|uc011lje.2,p.K147M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ljf.2	nonsynonymous SNV	exon5	c.A65T	p.K22M	GFYSLSVRHRQVKHYRIFRLPNNWY	GFYSLSVRHRQVMHYRIFRLPNNWY	8.0	4.0	-	-	4253_8:134057324-134057324 T>A_GFYSLSVRHRQVMHYRIFRLPNNWY
22:36920025-36920025 C>A	1.0	4253	MELANOMA	-	-	-	-	EIF3D	ENST00000455547,p.R103S|ENST00000405442,p.R103S|ENST00000432675,p.R103S|uc003apr.3,p.R103S|ENST00000216190,p.R103S|NM_003753,p.R103S|ENST00000457241,p.R103S|ENST00000402116,p.R103S	retained_intron, protein_coding, processed_transcript	uc003apr.3	nonsynonymous SNV	exon5	c.G309T	p.R103S	TAYQRNRMRFAQRNLRRDKDRRNML	TAYQRNRMRFAQSNLRRDKDRRNML	10.0	6.0	unscreened	-	4253_22:36920025-36920025 C>A_TAYQRNRMRFAQSNLRRDKDRRNML
7:91972526-91972526 G>A	1.0	4253	MELANOMA	-	-	-	-	ANKIB1	NM_019004,p.G326R|uc003ulw.2,p.G326R|ENST00000265742,p.G326R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ulw.2	nonsynonymous SNV	exon6	c.G976A	p.G326R	SVTSPDEISLSPGDLDTSLCDICMC	SVTSPDEISLSPRDLDTSLCDICMC	7.0	4.0	unscreened	-	4253_7:91972526-91972526 G>A_SVTSPDEISLSPRDLDTSLCDICMC
11:124189739-124189739 C>T	1.0	4253	MELANOMA	-	-	ID=COSM1676546;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	OR8D2	uc010sah.2,p.E119K|NM_001002918,p.E119K|ENST00000357438,p.E119K	protein_coding	uc010sah.2	nonsynonymous SNV	exon1	c.G355A	p.E119K	FVIAEGYLLTAMEYDRYVAICRPLL	FVIAEGYLLTAMKYDRYVAICRPLL	1.0	8.0	unscreened	-	4253_11:124189739-124189739 C>T_FVIAEGYLLTAMKYDRYVAICRPLL
7:100174540-100174540 G>A	1.0	4253	MELANOMA	-	-	-	-	LRCH4	NM_002319,p.P485S|ENST00000310300,p.P485S|ENST00000497245,p.P33S|uc003uvj.3,p.P485S|NM_001289934,p.P485S	retained_intron, protein_coding	uc003uvj.3	nonsynonymous SNV	exon13	c.C1453T	p.P485S	APAPAPASQEPLPIAGPATAPAPRP	APAPAPASQEPLSIAGPATAPAPRP	9.0	6.0	unscreened	-	4253_7:100174540-100174540 G>A_APAPAPASQEPLSIAGPATAPAPRP
1:45288969-45288969 G>A	0.0	4253	MELANOMA	-	-	-	-	PTCH2	uc010olg.2,p.S766F|ENST00000372192,p.S1068F|NM_003738,p.S1068F|uc021omv.1,p.S1068F|uc010olf.2,p.S1068F|ENST00000447098,p.S1068F|NM_001166292,p.S1068F	protein_coding	uc021omv.1	nonsynonymous SNV	exon20	c.C3203T	p.S1068F	EHTFAPVTDGAISTLLGLLMLAGSH	EHTFAPVTDGAIFTLLGLLMLAGSH	5.0	5.0	unscreened	-	4253_1:45288969-45288969 G>A_EHTFAPVTDGAIFTLLGLLMLAGSH
11:122929423-122929423 A>G	1.0	4253	MELANOMA	-	-	-	-	HSPA8	NM_006597,p.I480T|ENST00000524552,p.I71T|uc010rzu.2,p.I403T|uc001pyo.3,p.I480T|ENST00000534624,p.I480T|ENST00000526686,p.I32T|ENST00000227378,p.I480T|ENST00000534319,p.I244T|ENST00000526110,p.I461T|uc009zbc.3,p.I244T|ENST00000532636,p.I480T|ENST00000533540,p.I334T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rzu.2	nonsynonymous SNV	exon6	c.T1208C	p.I403T	PRGVPQIEVTFDIDANGILNVSAVD	PRGVPQIEVTFDTDANGILNVSAVD	10.0	1.0	unscreened	-	4253_11:122929423-122929423 A>G_PRGVPQIEVTFDTDANGILNVSAVD
16:775484-775484 G>A	1.0	4253	MELANOMA	-	-	-	-	CCDC78	uc010uuo.1,p.P122S|uc002cjk.2,p.P122S|uc002cji.3,p.P196S|ENST00000293889,p.P122S|uc002cjg.3,p.P122S|NM_001031737,p.P122S	retained_intron, protein_coding	uc010uuo.1	nonsynonymous SNV	exon4	c.C364T	p.P122S	GCAVPVESDPRHPRAAAQELRHKAQ	GCAVPVESDPRHSRAAAQELRHKAQ	7.0	8.0	unscreened	-	4253_16:775484-775484 G>A_GCAVPVESDPRHSRAAAQELRHKAQ
7:92983000-92983000 C>T	1.0	4253	MELANOMA	-	-	ID=COSM1093209;OCCURENCE=1(large_intestine),4(endometrium)	-	CCDC132	ENST00000544910,p.R808C|NM_001257998,p.R808C|ENST00000535481,p.R558C|uc011khz.3,p.R558C|uc003ump.4,p.R808C|uc003umo.4,p.R838C|ENST00000305866,p.R838C|NM_017667,p.R838C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011khz.3	nonsynonymous SNV	exon16	c.C1672T	p.R558C	FNRRLNEVSKRVRIPLPVSNILWEH	FNRRLNEVSKRVCIPLPVSNILWEH	7.0	5.0	unscreened	-	4253_7:92983000-92983000 C>T_FNRRLNEVSKRVCIPLPVSNILWEH
17:79425380-79425380 C>T	1.0	4253	MELANOMA	-	-	-	-	BAHCC1	ENST00000307745,p.A1744V|uc002kae.2,p.A974V	retained_intron, protein_coding, processed_transcript	uc002kae.2	nonsynonymous SNV	exon14	c.C2921T	p.A974V	LRAEPGATPSRDALFNPSRAFACRE	LRAEPGATPSRDVLFNPSRAFACRE	6.0	7.0	unscreened	-	4253_17:79425380-79425380 C>T_LRAEPGATPSRDVLFNPSRAFACRE
1:231509740-231509740 C>T	1.0	4253	MELANOMA	-	-	-	-	EGLN1	NM_022051,p.D333N|uc001huv.2,p.D333N|ENST00000366641,p.D333N|uc001huu.3,p.D35N	protein_coding, processed_transcript	uc001huv.2	nonsynonymous SNV	exon2	c.G997A	p.D333N	GRCVTCIYYLNKDWDAKVSGGILRI	GRCVTCIYYLNKNWDAKVSGGILRI	8.0	2.0	unscreened	-	4253_1:231509740-231509740 C>T_GRCVTCIYYLNKNWDAKVSGGILRI
19:57133944-57133944 G>A	1.0	4253	MELANOMA	-	-	-	-	ZNF71	uc002qnm.4,p.R430Q|ENST00000328070,p.R430Q|NM_021216,p.R430Q|uc021vcg.1,p.R430Q	protein_coding, processed_transcript	uc021vcg.1	nonsynonymous SNV	exon1	c.G1289A	p.R430Q	AFSQSAYLIEHQRIHTGEKPYRCGQ	AFSQSAYLIEHQQIHTGEKPYRCGQ	7.0	8.0	unscreened	-	4253_19:57133944-57133944 G>A_AFSQSAYLIEHQQIHTGEKPYRCGQ
19:3779003-3779003 G>A	1.0	4253	MELANOMA	-	-	-	-	MATK	NM_139354,p.A354V|uc002lyt.3,p.A395V|uc002lyv.3,p.A396V|uc002lyu.3,p.A354V|ENST00000395045,p.A396V|ENST00000395040,p.A354V|NM_139355,p.A395V|NM_002378,p.A396V|ENST00000310132,p.A395V	protein_coding, processed_transcript	uc002lyv.3	nonsynonymous SNV	exon12	c.C1187T	p.A396V	SSRLPVKWTAPEALKHGKFTSKSDV	SSRLPVKWTAPEVLKHGKFTSKSDV	7.0	3.0	unscreened	-	4253_19:3779003-3779003 G>A_SSRLPVKWTAPEVLKHGKFTSKSDV
19:39051960-39051960 G>A	0.0	4253	MELANOMA	-	-	-	-	RYR1	ENST00000359596,p.E4164K|NM_000540,p.E4164K|ENST00000360985,p.E4159K|uc002oiu.3,p.E4159K|uc002oit.3,p.E4164K|ENST00000355481,p.E4159K|NM_001042723,p.E4159K	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon89	c.G12475A	p.E4159K	HVPHDPRLHNFLELAESILEYFRPY	HVPHDPRLHNFLKLAESILEYFRPY	7.0	3.0	unscreened	-	4253_19:39051960-39051960 G>A_HVPHDPRLHNFLKLAESILEYFRPY
1:104162381-104162381 G>A	0.0	4253	MELANOMA	-	-	-	-	AMY2A	uc010ouq.1,p.G240E	protein_coding, processed_transcript	uc010ouq.1	nonsynonymous SNV	exon4	c.G719A	p.G240E	KLHNLNSNWFPAGSKPFIYQEVHQY	KLHNLNSNWFPAESKPFIYQEVHQY	6.0	2.0	unscreened	-	4253_1:104162381-104162381 G>A_KLHNLNSNWFPAESKPFIYQEVHQY
9:124534914-124534914 C>T	1.0	4253	MELANOMA	-	-	-	-	DAB2IP	ENST00000373782,p.P612S|NM_138709,p.P579S|uc004blo.3,p.P579S|ENST00000408936,p.P703S|NM_032552,p.P675S|uc004bln.3,p.P675S|ENST00000309989,p.P579S|ENST00000259371,p.P675S	protein_coding, processed_transcript	uc004blo.3	nonsynonymous SNV	exon10	c.C1735T	p.P579S	LSGLIDFTRLPSPTPENKDLFFVTR	LSGLIDFTRLPSSTPENKDLFFVTR	8.0	10.0	unscreened	-	4253_9:124534914-124534914 C>T_LSGLIDFTRLPSSTPENKDLFFVTR
3:44868967-44868967 C>T	1.0	4253	MELANOMA	-	-	-	-	KIF15	uc003cnx.4,p.L935F|ENST00000425755,p.L570F|ENST00000326047,p.L935F|uc010hiq.3,p.L838F|NM_020242,p.L935F	retained_intron, protein_coding, nonsense_mediated_decay	uc010hiq.3	nonsynonymous SNV	exon22	c.C2512T	p.L838F	DKENSSKEILKVLEAVRQEKQKETA	DKENSSKEILKVFEAVRQEKQKETA	9.0	9.0	unscreened	-	4253_3:44868967-44868967 C>T_DKENSSKEILKVFEAVRQEKQKETA
2:196740552-196740552 C>T	0.0	4253	MELANOMA	-	-	-	-	DNAH7	NM_018897,p.D2045N|uc002utj.4,p.D2045N|ENST00000312428,p.D2045N	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon38	c.G6133A	p.D2045N	PPLGKRMVVFVDDVNMPAREVYGAQ	PPLGKRMVVFVDNVNMPAREVYGAQ	6.0	8.0	unscreened	-	4253_2:196740552-196740552 C>T_PPLGKRMVVFVDNVNMPAREVYGAQ
7:102574796-102574796 G>A	0.0	4253	MELANOMA	-	-	-	-	LRRC17	ENST00000339431,p.E146K|uc003vau.3,p.E146K|uc003vat.3,p.E146K|NM_005824,p.E146K|NM_001031692,p.E146K|ENST00000249377,p.E146K	protein_coding, processed_transcript	uc003vau.3	nonsynonymous SNV	exon2	c.G436A	p.E146K	LLLQHNQIKVLTEEVFIYTPLLSYL	LLLQHNQIKVLTKEVFIYTPLLSYL	6.0	4.0	unscreened	-	4253_7:102574796-102574796 G>A_LLLQHNQIKVLTKEVFIYTPLLSYL
5:149500787-149500787 C>T	0.0	4253	MELANOMA	-	-	-	1	PDGFRB	ENST00000261799,p.E815K|uc003lro.3,p.E815K|NM_002609,p.E815K|uc010jhd.3,p.E654K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jhd.3	nonsynonymous SNV	exon17	c.G1960A	p.E654K	LVGFSYQVANGMEFLASKNCVHRDL	LVGFSYQVANGMKFLASKNCVHRDL	9.0	4.0	unscreened	-	4253_5:149500787-149500787 C>T_LVGFSYQVANGMKFLASKNCVHRDL
14:25100362-25100362 C>T	1.0	4253	MELANOMA	-	-	-	-	GZMB	uc001wps.2,p.G220E|ENST00000415355,p.G208E|ENST00000382542,p.G254E|ENST00000382540,p.G175E|NM_004131,p.G220E|ENST00000216341,p.G220E|uc010ama.2,p.G208E	protein_coding, nonsense_mediated_decay	uc010ama.2	nonsynonymous SNV	exon5	c.G623A	p.G208E	VCNKVAQGIVSYGRNNGMPPRACTK	VCNKVAQGIVSYERNNGMPPRACTK	10.0	2.0	unscreened	-	4253_14:25100362-25100362 C>T_VCNKVAQGIVSYERNNGMPPRACTK
9:73376419-73376419 G>A	0.0	4253	MELANOMA	-	-	-	-	TRPM3	uc004aie.3,p.S304F|ENST00000377101,p.S304F	retained_intron, protein_coding, processed_transcript	uc004aie.3	nonsynonymous SNV	exon8	c.C911T	p.S304F	HNIFSNHATFSLSGRAYSSPQAPLA	HNIFSNHATFSLFGRAYSSPQAPLA	6.0	10.0	unscreened	-	4253_9:73376419-73376419 G>A_HNIFSNHATFSLFGRAYSSPQAPLA
2:48030592-48030592 G>A	1.0	4253	MELANOMA	-	-	-	1	MSH6	uc010yoj.2,p.G767E|uc010fbj.3,p.G767E|NM_001281494,p.G767E|NM_001281492,p.G939E|ENST00000234420,p.G1069E|ENST00000538136,p.G767E|uc002rwd.4,p.G1069E|NM_000179,p.G1069E|ENST00000540021,p.G939E|NM_001281493,p.G767E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010yoj.2	nonsynonymous SNV	exon5	c.G2300A	p.G767E	LDVLLCLANYSRGGDGPMCRPVILL	LDVLLCLANYSREGDGPMCRPVILL	8.0	9.0	unscreened	-	4253_2:48030592-48030592 G>A_LDVLLCLANYSREGDGPMCRPVILL
1:144879284-144879284 G>A	0.0	4253	MELANOMA	-	-	ID=COSM423670,COSM3385123,COSM1472516;OCCURENCE=1(pancreas),1(breast)	1	PDE4DIP	NM_001198832,p.S1345L|NM_014644,p.S1389L|NM_001198834,p.S1389L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_014644	nonsynonymous SNV	exon27	c.C4166T	p.S1389L	SRVRSLSVTSDYSSSLERPRKLRAV	SRVRSLSVTSDYLSSLERPRKLRAV	9.0	1.0	unscreened	-	4253_1:144879284-144879284 G>A_SRVRSLSVTSDYLSSLERPRKLRAV
1:114225840-114225840 G>T	1.0	4253	MELANOMA	-	-	-	-	MAGI3	NM_001142782,p.R1217L|uc001edk.3,p.R1217L|ENST00000307546,p.R1217L	protein_coding, processed_transcript	uc001edk.3	nonsynonymous SNV	exon21	c.G3650T	p.R1217L	KKNLLKVENGVTRRGRSVSPKKPAS	KKNLLKVENGVTLRGRSVSPKKPAS	6.0	1.0	unscreened	-	4253_1:114225840-114225840 G>T_KKNLLKVENGVTLRGRSVSPKKPAS
5:57752910-57752910 G>A	1.0	4253	MELANOMA	-	-	-	-	PLK2	NM_006622,p.P340S|NM_001252226,p.P326S|uc021xyx.1,p.P326S|ENST00000274289,p.P340S|uc003jrn.3,p.P340S	retained_intron, protein_coding, processed_transcript	uc021xyx.1	nonsynonymous SNV	exon9	c.C976T	p.P326S	IIRHDFFLQGFTPDRLSSSCCHTVP	IIRHDFFLQGFTSDRLSSSCCHTVP	9.0	4.0	unscreened	-	4253_5:57752910-57752910 G>A_IIRHDFFLQGFTSDRLSSSCCHTVP
12:49255854-49255854 C>T	0.0	4253	MELANOMA	-	-	-	-	RND1	ENST00000309739,p.D86N|uc001rsn.3,p.D86N|NM_014470,p.D86N	retained_intron, protein_coding, nonsense_mediated_decay	uc001rsn.3	nonsynonymous SNV	exon3	c.G256A	p.D86N	YDNVRPLCYSDSDAVLLCFDISRPE	YDNVRPLCYSDSNAVLLCFDISRPE	5.0	8.0	unscreened	-	4253_12:49255854-49255854 C>T_YDNVRPLCYSDSNAVLLCFDISRPE
7:20682925-20682925 C>T	0.0	4253	MELANOMA	-	-	-	-	ABCB5	ENST00000404938,p.H145Y|NM_001163941,p.H145Y|uc010kuh.3,p.H145Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kuh.3	nonsynonymous SNV	exon6	c.C433T	p.H145Y	ARQTKRIRKQFFHSVLAQDIGWFDS	ARQTKRIRKQFFYSVLAQDIGWFDS	8.0	1.0	unscreened	-	4253_7:20682925-20682925 C>T_ARQTKRIRKQFFYSVLAQDIGWFDS
11:123597597-123597597 G>A	0.0	4253	MELANOMA	-	-	-	-	ZNF202	ENST00000530393,p.P352L|NM_001301780,p.P352L|ENST00000529691,p.P352L|ENST00000336139,p.P352L|NM_001301779,p.P352L|uc001pzf.1,p.P352L|NM_001301819,p.P128L|NM_003455,p.P352L|uc001pzc.1,p.P128L|uc001pzd.1,p.P352L|uc001pze.1,p.P352L	protein_coding, processed_transcript	uc001pzf.1	nonsynonymous SNV	exon7	c.C1055T	p.P352L	RPVLGEPEIHQTPDWEIVFEDNPGR	RPVLGEPEIHQTLDWEIVFEDNPGR	7.0	3.0	unscreened	-	4253_11:123597597-123597597 G>A_RPVLGEPEIHQTLDWEIVFEDNPGR
16:24580206-24580206 C>T	1.0	4253	MELANOMA	-	-	-	-	RBBP6	ENST00000319715,p.P732L|NM_006910,p.P732L|uc010vcb.1,p.P599L|ENST00000564314,p.P599L|uc002dmk.3,p.P565L|uc002dmh.3,p.P732L|uc002dmi.3,p.P698L|ENST00000348022,p.P698L|NM_018703,p.P698L	retained_intron, protein_coding	uc010vcb.1	nonsynonymous SNV	exon15	c.C1796T	p.P599L	SRSHSRSYSRSPPYPRRGRGKSRNY	SRSHSRSYSRSPLYPRRGRGKSRNY	9.0	7.0	-	-	4253_16:24580206-24580206 C>T_SRSHSRSYSRSPLYPRRGRGKSRNY
5:31466354-31466354 G>A	1.0	4253	MELANOMA	-	-	-	1	DROSHA	ENST00000511367,p.R801C|ENST00000442743,p.R764C|ENST00000344624,p.R801C|uc003jhg.2,p.R801C|uc003jhh.2,p.R764C|NM_001100412,p.R764C|ENST00000513349,p.R764C|uc003jhi.2,p.R764C|NM_013235,p.R801C	retained_intron, protein_coding, processed_transcript	uc003jhi.2	nonsynonymous SNV	exon17	c.C2290T	p.R764C	QYQKLWKSYVKLRHLLANSPKVKQT	QYQKLWKSYVKLCHLLANSPKVKQT	10.0	7.0	unscreened	-	4253_5:31466354-31466354 G>A_QYQKLWKSYVKLCHLLANSPKVKQT
16:15818807-15818807 C>T	1.0	4253	MELANOMA	-	-	-	1	MYH11	uc002ddv.3,p.G1308R|ENST00000576790,p.G1301R|ENST00000396324,p.G1308R|uc002ddy.3,p.G1301R|uc002ddw.3,p.G1301R|NM_022844,p.G1301R|ENST00000452625,p.G1308R|ENST00000300036,p.G1301R|NM_001040114,p.G1308R|ENST00000338282,p.G1301R|NM_002474,p.G1301R|uc002ddx.3,p.G1308R|NM_001040113,p.G1308R|uc010bvg.3,p.G1133R	retained_intron, protein_coding, processed_transcript	uc010bvg.3	nonsynonymous SNV	exon30	c.G3397A	p.G1133R	VESVTGMLNEAEGKAIKLAKDVASL	VESVTGMLNEAERKAIKLAKDVASL	6.0	4.0	unscreened	-	4253_16:15818807-15818807 C>T_VESVTGMLNEAERKAIKLAKDVASL
12:58163602-58163602 G>A	1.0	4253	MELANOMA	-	-	-	-	METTL1	uc010ssd.2,p.R138C|ENST00000324871,p.R138C|NM_005371,p.R138C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ssd.2	nonsynonymous SNV	exon3	c.C412T	p.R138C	APAGGFQNIACLRSNAMKHLPNFFY	APAGGFQNIACLCSNAMKHLPNFFY	10.0	4.0	unscreened	-	4253_12:58163602-58163602 G>A_APAGGFQNIACLCSNAMKHLPNFFY
4:46258277-46258277 A>T	0.0	4253	MELANOMA	-	-	-	-	GABRA2	ENST00000540012,p.F337I|uc011bzc.1,p.F337I|ENST00000507069,p.F392I|NM_001286827,p.F337I	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bzc.1	nonsynonymous SNV	exon9	c.T1009A	p.F337I	WSKYIAFSWPSLFQEKTLEYLEKWM	WSKYIAFSWPSLIQEKTLEYLEKWM	7.0	6.0	unscreened	-	4253_4:46258277-46258277 A>T_WSKYIAFSWPSLIQEKTLEYLEKWM
9:135917510-135917510 T>G	1.0	4253	MELANOMA	-	-	-	-	GTF3C5	uc004ccj.4,p.F64V|NM_012087,p.F64V|ENST00000372108,p.F64V|ENST00000372097,p.F64V|NM_001122823,p.F64V|uc004cci.4,p.F64V|ENST00000342018,p.F64V|ENST00000440319,p.F17V	protein_coding, processed_transcript	uc004ccj.4	nonsynonymous SNV	exon2	c.T190G	p.F64V	IYADPTKRLELYFRPKDPYCHPVCA	IYADPTKRLELYVRPKDPYCHPVCA	9.0	10.0	unscreened	-	4253_9:135917510-135917510 T>G_IYADPTKRLELYVRPKDPYCHPVCA
19:4552545-4552545 G>A	0.0	4253	MELANOMA	-	-	-	-	SEMA6B	uc010xih.1,p.S293F|ENST00000586965,p.S293F|ENST00000586582,p.S293F|ENST00000301293,p.S293F|uc010dud.2,p.S293F|NM_032108,p.S293F	retained_intron, protein_coding	uc010xih.1	nonsynonymous SNV	exon10	c.C878T	p.S293F	QWTSFLKARLNCSVPGDSHFYFNVL	QWTSFLKARLNCFVPGDSHFYFNVL	6.0	10.0	unscreened	-	4253_19:4552545-4552545 G>A_QWTSFLKARLNCFVPGDSHFYFNVL
7:147914404-147914404 G>A	0.0	4253	MELANOMA	-	-	-	2	CNTNAP2	ENST00000361727,p.G1012E|uc003weu.2,p.G1012E|ENST00000538075,p.G71E|NM_014141,p.G1012E	protein_coding, processed_transcript	uc003weu.2	nonsynonymous SNV	exon19	c.G3035A	p.G1012E	FCNKDVGAFFEEGMWLRYNFQAPAT	FCNKDVGAFFEEEMWLRYNFQAPAT	1.0	4.0	unscreened	-	4253_7:147914404-147914404 G>A_FCNKDVGAFFEEEMWLRYNFQAPAT
4:85625499-85625499 T>C	0.0	4253	MELANOMA	-	-	-	-	WDFY3	ENST00000322366,p.R2795G|uc003hpd.3,p.R2812G|NM_014991,p.R2812G|uc003hpe.1,p.R423G|ENST00000514711,p.R415G|ENST00000295888,p.R2812G	retained_intron, protein_coding, processed_transcript	uc003hpe.1	nonsynonymous SNV	exon11	c.A1267G	p.R423G	LVRMEPFTQIFLRLQGGHFDLADRM	LVRMEPFTQIFLGLQGGHFDLADRM	7.0	6.0	unscreened	-	4253_4:85625499-85625499 T>C_LVRMEPFTQIFLGLQGGHFDLADRM
1:203316881-203316881 G>A	0.0	4253	MELANOMA	-	-	-	-	FMOD	ENST00000354955,p.P173L|uc001gzr.3,p.P173L|NM_002023,p.P173L	protein_coding, processed_transcript	uc001gzr.3	nonsynonymous SNV	exon2	c.C518T	p.P173L	YLDHNNLTRMPGPLPRSLRELHLDH	YLDHNNLTRMPGLLPRSLRELHLDH	8.0	9.0	unscreened	-	4253_1:203316881-203316881 G>A_YLDHNNLTRMPGLLPRSLRELHLDH
4:164247198-164247198 G>A	0.0	4253	MELANOMA	-	-	-	-	NPY1R	uc021xtv.1,p.S170F|ENST00000296533,p.S170F|NM_000909,p.S170F|uc003iqm.2,p.S170F	protein_coding	uc021xtv.1	nonsynonymous SNV	exon1	c.C509T	p.S170F	GIAVIWVLAVASSLPFLIYQVMTDE	GIAVIWVLAVASFLPFLIYQVMTDE	2.0	5.0	unscreened	-	4253_4:164247198-164247198 G>A_GIAVIWVLAVASFLPFLIYQVMTDE
11:34485672-34485672 C>T	1.0	4253	MELANOMA	-	-	-	-	CAT	uc001mvm.3,p.P406S|ENST00000241052,p.P406S|NM_001752,p.P406S	protein_coding, processed_transcript	uc001mvm.3	nonsynonymous SNV	exon10	c.C1216T	p.P406S	MQDNQGGAPNYYPNSFGAPEQQPSA	MQDNQGGAPNYYSNSFGAPEQQPSA	9.0	1.0	unscreened	-	4253_11:34485672-34485672 C>T_MQDNQGGAPNYYSNSFGAPEQQPSA
19:15271562-15271562 G>A	1.0	4253	MELANOMA	-	-	-	-	NOTCH3	ENST00000263388,p.P2293S|NM_000435,p.P2293S|uc002nan.3,p.P2293S	retained_intron, protein_coding, nonsense_mediated_decay	uc002nan.3	nonsynonymous SNV	exon33	c.C6877T	p.P2293S	ATTTGALPAQPLPLSVPSSLAQAQT	ATTTGALPAQPLSLSVPSSLAQAQT	7.0	3.0	-	-	4253_19:15271562-15271562 G>A_ATTTGALPAQPLSLSVPSSLAQAQT
6:107955523-107955523 C>T	0.0	4253	MELANOMA	-	-	-	-	SOBP	uc003prx.3,p.P492L|ENST00000317357,p.P492L|NM_018013,p.P492L	retained_intron, protein_coding, processed_transcript	uc003prx.3	nonsynonymous SNV	exon6	c.C1475T	p.P492L	PPGAPLPSLPFPPVSMMPNGPMPVP	PPGAPLPSLPFPLVSMMPNGPMPVP	6.0	10.0	unscreened	-	4253_6:107955523-107955523 C>T_PPGAPLPSLPFPLVSMMPNGPMPVP
16:67919985-67919985 T>C	1.0	4253	MELANOMA	-	-	-	-	NRN1L	ENST00000576147,p.V34A	protein_coding	ENST00000576147	nonsynonymous SNV	exon2	c.T101C	p.V34A	GNHYSKKLARPPVRITCTLCAVPRC	GNHYSKKLARPPARITCTLCAVPRC	6.0	5.0	unscreened	-	4253_16:67919985-67919985 T>C_GNHYSKKLARPPARITCTLCAVPRC
2:207619829-207619829 ->A	1.0	4253	MELANOMA	-	-	-	-	MDH1B	uc002vbs.3,p.A272fs|NM_001282940,p.A272fs|uc010fui.3,p.A272fs|uc021vvm.1,p.A174fs|ENST00000374412,p.A272fs|NM_001039845,p.A272fs|ENST00000454776,p.A272fs|ENST00000449792,p.A174fs	retained_intron, protein_coding, nonsense_mediated_decay	uc021vvm.1	frameshift insertion	exon4	c.519dupT	p.A174fs	FVNLKTVLLMRYAPRIAHNIIAVAL	FVNLKTVLLMRYCPTHCTQHYCCGAGGGR	6.0	2.0	unscreened	-	4253_2:207619829-207619829 ->A_FVNLKTVLLMRYCPTHCTQHYCCGAGGGR
22:37882196-37882196 C>T	0.0	4253	MELANOMA	-	-	-	-	MFNG	ENST00000416983,p.R7Q|ENST00000438891,p.R7Q|ENST00000356998,p.R7Q|ENST00000424765,p.R7Q|ENST00000430411,p.R7Q|uc011anj.2,p.R7Q|uc003ass.2,p.R7Q|NM_002405,p.R7Q|NM_001166343,p.R7Q	retained_intron, protein_coding, nonsense_mediated_decay	uc011anj.2	nonsynonymous SNV	exon1	c.G20A	p.R7Q	MQCRLPRGLAGALLTLLCM	MQCRLPQGLAGALLTLLCM	8.0	7.0	-	-	4253_22:37882196-37882196 C>T_MQCRLPQGLAGALLTLLCM
5:132270488-132270488 G>A	0.0	4253	MELANOMA	-	-	-	1	AFF4	uc003kyd.3,p.S90F|NM_014423,p.S90F|ENST00000265343,p.S90F|ENST00000421773,p.S90F|ENST00000378595,p.S90F|uc003kye.1,p.S90F|uc003kyf.4,p.S90F	retained_intron, protein_coding, processed_transcript	uc003kyf.4	nonsynonymous SNV	exon3	c.C269T	p.S90F	PKPTVPPSADEKSNPNFFEQRHGGS	PKPTVPPSADEKFNPNFFEQRHGGS	8.0	1.0	unscreened	-	4253_5:132270488-132270488 G>A_PKPTVPPSADEKFNPNFFEQRHGGS
11:5969225-5969225 C>T	0.0	4253	MELANOMA	-	-	-	-	OR56A3	uc010qzt.2,p.L217F|ENST00000329564,p.L217F|NM_001003443,p.L217F	protein_coding	uc010qzt.2	nonsynonymous SNV	exon1	c.C649T	p.L217F	AGGWTLLGSDLILIFLSYTFILRAV	AGGWTLLGSDLIFIFLSYTFILRAV	2.0	8.0	unscreened	-	4253_11:5969225-5969225 C>T_AGGWTLLGSDLIFIFLSYTFILRAV
16:68894081-68894081 C>G	1.0	4253	MELANOMA	-	-	-	-	TANGO6	NM_024562,p.P130R|ENST00000261778,p.P130R|uc002ewh.3,p.P130R|uc002ewi.4,p.P130R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ewi.4	nonsynonymous SNV	exon2	c.C389G	p.P130R	PGKPNPRTPEVAPALSPDALSISQQ	PGKPNPRTPEVARALSPDALSISQQ	7.0	6.0	unscreened	-	4253_16:68894081-68894081 C>G_PGKPNPRTPEVARALSPDALSISQQ
17:7605772-7605796 GATGGCTCCCCTCTCGCCTTGCTGG>-	0.0	4253	MELANOMA	-	-	-	-	WRAP53	NM_018081,p.D356fs|uc010vui.2,p.D356fs|uc010cnl.3,p.D323fs|uc010vuh.2,p.D356fs|ENST00000396463,p.D356fs|ENST00000316024,p.D356fs|NM_001143990,p.D356fs|ENST00000534050,p.D323fs|ENST00000457584,p.D356fs|NM_001143991,p.D356fs|ENST00000431639,p.D356fs|uc002gir.3,p.D356fs|NM_001143992,p.D356fs|uc002gip.3,p.D356fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010vui.2	frameshift deletion	exon8	c.1066_1090del	p.D356fs	SYGRSLGLYAWDDGSPLALLGGHQG	SYGRSLGLYAWDEGTKGASPTSAFIPMATASSQEPARMLSSCAGISGSLVTHCGPWVER	8.0	2.0	-	-	4253_17:7605772-7605796 GATGGCTCCCCTCTCGCCTTGCTGG>-_SYGRSLGLYAWDEGTKGASPTSAFIPMATASSQEPARMLSSCAGISGSLVTHCGPWVER
1:114442547-114442547 G>C	1.0	4253	MELANOMA	-	-	-	-	AP4B1	uc001eed.3,p.Q365E|uc010owp.2,p.Q266E|uc001eea.1,p.Q159E|uc001eec.3,p.Q197E|NM_001253852,p.Q365E|ENST00000256658,p.Q365E|ENST00000369569,p.Q365E|uc001eeb.3,p.Q365E|NM_001253853,p.Q266E|NM_006594,p.Q365E|ENST00000369567,p.Q197E	protein_coding, processed_transcript	uc010owp.2	nonsynonymous SNV	exon6	c.C796G	p.Q266E	RGYCTDVSADFAQAAIFAIGGIART	RGYCTDVSADFAEAAIFAIGGIART	8.0	8.0	unscreened	-	4253_1:114442547-114442547 G>C_RGYCTDVSADFAEAAIFAIGGIART
2:88472866-88472866 A>T	0.0	4253	MELANOMA	-	-	-	-	THNSL2	ENST00000377254,p.E66V|ENST00000449349,p.E34V|ENST00000419759,p.E66V|ENST00000324166,p.E66V|uc021vkq.1,p.E66V|uc002ssw.4,p.E66V|ENST00000402102,p.E66V|ENST00000343544,p.E66V|NM_018271,p.E66V|NM_001244676,p.E66V|ENST00000358591,p.E66V|uc021vkr.1,p.E66V|uc002ssy.4,p.E66V	retained_intron, protein_coding, processed_transcript	uc021vkr.1	nonsynonymous SNV	exon1	c.A197T	p.E66V	LVKELCALFIGSELLPKDELNDLID	LVKELCALFIGSVLLPKDELNDLID	8.0	2.0	unscreened	-	4253_2:88472866-88472866 A>T_LVKELCALFIGSVLLPKDELNDLID
17:59820394-59820394 G>A	1.0	4253	MELANOMA	-	-	-	1	BRIP1	ENST00000577598,p.P787S|NM_032043,p.P787S|ENST00000259008,p.P787S|uc002izk.2,p.P787S|uc002izl.1,p.P168S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002izl.1	nonsynonymous SNV	exon5	c.C502T	p.P168S	NARAVITIGIPFPNVKDLQVELKRQ	NARAVITIGIPFSNVKDLQVELKRQ	6.0	7.0	unscreened	-	4253_17:59820394-59820394 G>A_NARAVITIGIPFSNVKDLQVELKRQ
15:65295594-65295594 C>T	1.0	4253	MELANOMA	-	-	-	-	MTFMT	ENST00000558460,p.D326N|ENST00000220058,p.D326N|NM_139242,p.D326N|uc002aof.4,p.D326N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002aof.4	nonsynonymous SNV	exon9	c.G976A	p.D326N	HKQSQILLVYCKDGWIGVRSVMLKK	HKQSQILLVYCKNGWIGVRSVMLKK	8.0	9.0	unscreened	-	4253_15:65295594-65295594 C>T_HKQSQILLVYCKNGWIGVRSVMLKK
1:104162381-104162381 G>A	0.0	4253	MELANOMA	-	-	-	-	AMY2A	ENST00000414303,p.G240E|NM_000699,p.G240E|uc001dut.3,p.G240E	protein_coding, processed_transcript	uc001dut.3	nonsynonymous SNV	exon4	c.G719A	p.G240E	KLHNLNSNWFPAGSKPFIYQEVIDL	KLHNLNSNWFPAESKPFIYQEVIDL	6.0	2.0	unscreened	-	4253_1:104162381-104162381 G>A_KLHNLNSNWFPAESKPFIYQEVIDL
4:36130364-36130364 A>G	0.0	4253	MELANOMA	-	-	-	-	ARAP2	ENST00000303965,p.L1144S|uc003gsq.2,p.L1144S|NM_015230,p.L1144S	retained_intron, protein_coding, processed_transcript	uc003gsq.2	nonsynonymous SNV	exon21	c.T3431C	p.L1144S	VNSCIAFVTQYGLGCKYIYQKNGDP	VNSCIAFVTQYGSGCKYIYQKNGDP	6.0	4.0	unscreened	-	4253_4:36130364-36130364 A>G_VNSCIAFVTQYGSGCKYIYQKNGDP
7:92761599-92761599 A>C	1.0	4253	MELANOMA	-	-	-	-	SAMD9L	uc010lfd.1,p.V1229G|uc010lfb.1,p.V1229G|uc003umj.1,p.V1229G|ENST00000411955,p.V1229G|uc003umi.1,p.V1229G|ENST00000318238,p.V1229G|ENST00000437805,p.V1229G|uc022ahh.1,p.V1229G|uc003umk.1,p.V1229G|NM_152703,p.V1229G|uc003umh.1,p.V1229G|uc010lfc.1,p.V1229G	protein_coding, processed_transcript	uc022ahh.1	nonsynonymous SNV	exon1	c.T3686G	p.V1229G	FHKENELSKKHMVQFLSGKWTIPPD	FHKENELSKKHMGQFLSGKWTIPPD	7.0	4.0	unscreened	-	4253_7:92761599-92761599 A>C_FHKENELSKKHMGQFLSGKWTIPPD
20:35060361-35060361 G>A	0.0	4253	MELANOMA	-	-	-	-	DLGAP4	ENST00000373907,p.E81K|NM_014902,p.E81K|ENST00000339266,p.E81K|uc002xff.3,p.E81K|ENST00000401952,p.E81K|ENST00000373913,p.E81K|uc010zvp.2,p.E81K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zvp.2	nonsynonymous SNV	exon2	c.G241A	p.E81K	STFPRIHYNSHFEVPEESPFPSHAQ	STFPRIHYNSHFKVPEESPFPSHAQ	10.0	4.0	-	-	4253_20:35060361-35060361 G>A_STFPRIHYNSHFKVPEESPFPSHAQ
1:248487404-248487404 C>T	0.0	4253	MELANOMA	-	-	-	-	OR2M7	ENST00000317965,p.G156E|uc010pzk.2,p.G156E|NM_001004691,p.G156E	protein_coding	uc010pzk.2	nonsynonymous SNV	exon1	c.G467A	p.G156E	MTAFSWILGSTDGIIDAVATFSFSY	MTAFSWILGSTDEIIDAVATFSFSY	1.0	4.0	unscreened	-	4253_1:248487404-248487404 C>T_MTAFSWILGSTDEIIDAVATFSFSY
19:52272677-52272677 C>T	0.0	4253	MELANOMA	-	-	-	-	FPR2	uc002pxs.4,p.P256S|uc002pxr.3,p.P256S|ENST00000598953,p.P256S|uc010epf.3,p.P256S|ENST00000340023,p.P256S|uc021uyp.1,p.P256S|NM_001005738,p.P256S|ENST00000598776,p.P256S|NM_001462,p.P256S	protein_coding	uc021uyp.1	nonsynonymous SNV	exon1	c.C766T	p.P256S	TAVVASFFICWFPFQLVALLGTVWL	TAVVASFFICWFSFQLVALLGTVWL	3.0	2.0	unscreened	-	4253_19:52272677-52272677 C>T_TAVVASFFICWFSFQLVALLGTVWL
15:76630758-76630758 ->A	0.0	4253	MELANOMA	-	-	-	-	ISL2	NM_145805,p.L138fs|ENST00000290759,p.L138fs|uc002bbw.1,p.L138fs	protein_coding, nonsense_mediated_decay	uc002bbw.1	frameshift insertion	exon3	c.414_415insA	p.L138fs	PGDEFSLREHELLCRADHGLLLERA	PGDEFSLREHELLMPRRPRPPARARRGRQPAQPRPASRRPRPASARRWVGPAARVAPARAQADGEDDPRADCAEREAAAHSADLLRRQPAARRSHEGAAGGDDRPEPAGHPRLVPEQALQGQEEIHSHEAAAAAAAQRQDEPSGTDWDAPGGGQSHPP	3.0	9.0	unscreened	-	4253_15:76630758-76630758 ->A_PGDEFSLREHELLMPRRPRPPARARRGRQPAQPRPASRRPRPASARRWVGPAARVAPARAQADGEDDPRADCAEREAAAHSADLLRRQPAARRSHEGAAGGDDRPEPAGHPRLVPEQALQGQEEIHSHEAAAAAAAQRQDEPSGTDWDAPGGGQSHPP
3:122591367-122591367 T>A	0.0	4253	MELANOMA	-	-	-	-	DIRC2	ENST00000261038,p.I415N|uc010hrm.3,p.I253N|uc003efw.4,p.I415N|NM_032839,p.I415N	protein_coding, nonsense_mediated_decay	uc010hrm.3	nonsynonymous SNV	exon7	c.T758A	p.I253N	LFVETVYPVPEGITCGVVTFLSNMF	LFVETVYPVPEGNTCGVVTFLSNMF	7.0	1.0	unscreened	-	4253_3:122591367-122591367 T>A_LFVETVYPVPEGNTCGVVTFLSNMF
6:51893102-51893102 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1697385,COSM1697386;OCCURENCE=1(skin)	-	PKHD1	NM_170724,p.D1138N|ENST00000340994,p.D1138N|NM_138694,p.D1138N|uc003pah.1,p.D1138N|uc003pai.3,p.D1138N|ENST00000371117,p.D1138N	protein_coding	uc003pai.3	nonsynonymous SNV	exon30	c.G3412A	p.D1138N	LVIGVARLMNYTDLDVEVHVQDALA	LVIGVARLMNYTNLDVEVHVQDALA	5.0	4.0	unscreened	-	4253_6:51893102-51893102 C>T_LVIGVARLMNYTNLDVEVHVQDALA
19:52869184-52869184 G>A	0.0	4253	MELANOMA	-	-	-	-	ZNF610	ENST00000601151,p.D142N|NM_001161427,p.D142N|uc002pyy.4,p.D185N|NM_001161426,p.D185N|ENST00000327920,p.D185N|uc002pza.3,p.D185N|NM_173530,p.D185N|NM_001161425,p.D185N|ENST00000403906,p.D185N|uc002pyx.4,p.D185N|uc002pyz.4,p.D142N|ENST00000321287,p.D185N	retained_intron, protein_coding	uc002pza.3	nonsynonymous SNV	exon6	c.G553A	p.D185N	THIFNKYRNDLIDFPLLPQEEKAYI	THIFNKYRNDLINFPLLPQEEKAYI	7.0	1.0	unscreened	-	4253_19:52869184-52869184 G>A_THIFNKYRNDLINFPLLPQEEKAYI
7:5417575-5417575 G>A	1.0	4253	MELANOMA	-	-	-	-	TNRC18	ENST00000430969,p.R745W|ENST00000399537,p.R745W|NM_001080495,p.R745W|ENST00000413081,p.R147W|uc003soi.4,p.R745W	retained_intron, protein_coding	uc003soi.4	nonsynonymous SNV	exon6	c.C2233T	p.R745W	HREERLLGARLDRDQEKLLRESKEL	HREERLLGARLDWDQEKLLRESKEL	8.0	1.0	unscreened	-	4253_7:5417575-5417575 G>A_HREERLLGARLDWDQEKLLRESKEL
11:40136987-40136987 G>A	0.0	4253	MELANOMA	-	-	-	-	LRRC4C	uc031pzs.1,p.L282F|uc021qgf.1,p.L286F|ENST00000278198,p.L286F|uc031pzu.1,p.L286F|uc031pzt.1,p.L286F|uc001mxb.2,p.L282F|ENST00000527150,p.L286F|ENST00000528697,p.L286F|NM_020929,p.L286F|NM_001258419,p.L286F|ENST00000530763,p.L286F	protein_coding, processed_transcript	uc031pzu.1	nonsynonymous SNV	exon5	c.C856T	p.L286F	LAHNNLTLLPHDLFTPLHHLERIHL	LAHNNLTLLPHDFFTPLHHLERIHL	3.0	8.0	unscreened	-	4253_11:40136987-40136987 G>A_LAHNNLTLLPHDFFTPLHHLERIHL
18:48190659-48190659 G>A	0.0	4253	MELANOMA	-	-	-	-	MAPK4	NM_001292040,p.D111N|uc002lev.3,p.D111N|ENST00000400384,p.D111N|uc010doz.3,p.D111N|uc031rig.1,p.D111N|ENST00000588540,p.D111N|ENST00000592595,p.D111N|NM_002747,p.D111N	protein_coding, processed_transcript	uc031rig.1	nonsynonymous SNV	exon2	c.G331A	p.D111N	SVAYIVQEYMETDLARLLEQGTLAE	SVAYIVQEYMETNLARLLEQGTLAE	5.0	3.0	unscreened	-	4253_18:48190659-48190659 G>A_SVAYIVQEYMETNLARLLEQGTLAE
22:16449569-16449569 C>T	0.0	4253	MELANOMA	-	-	-	-	OR11H1	NM_001005239,p.G79E|ENST00000252835,p.G79E|uc011agd.2,p.G79E	protein_coding	uc011agd.2	nonsynonymous SNV	exon1	c.G236A	p.G79E	DRRLHTPMYMFLGNFSFLEIWYVSS	DRRLHTPMYMFLENFSFLEIWYVSS	1.0	4.0	unscreened	-	4253_22:16449569-16449569 C>T_DRRLHTPMYMFLENFSFLEIWYVSS
17:707031-707031 C>T	1.0	4253	MELANOMA	-	-	-	-	NXN	ENST00000538650,p.G30E|uc010vqd.2,p.G30E	retained_intron, protein_coding, processed_transcript	uc010vqd.2	nonsynonymous SNV	exon3	c.G89A	p.G30E	NRLYGIQDSEDDGESEAAKQLIQPI	NRLYGIQDSEDDEESEAAKQLIQPI	8.0	5.0	unscreened	-	4253_17:707031-707031 C>T_NRLYGIQDSEDDEESEAAKQLIQPI
17:707031-707031 C>T	1.0	4253	MELANOMA	-	-	-	-	NXN	ENST00000336868,p.G339E|NM_022463,p.G339E|NM_001205319,p.G231E|uc010vqe.2,p.G231E|uc002fsa.3,p.G339E|ENST00000575801,p.G231E|ENST00000537628,p.G90E	retained_intron, protein_coding, processed_transcript	uc010vqe.2	nonsynonymous SNV	exon7	c.G692A	p.G231E	PCLVLFVDSEDDGESEAAKQLIQPI	PCLVLFVDSEDDEESEAAKQLIQPI	8.0	5.0	unscreened	-	4253_17:707031-707031 C>T_PCLVLFVDSEDDEESEAAKQLIQPI
X:149887130-149887130 G>A	1.0	4253	MELANOMA	-	-	-	-	MTMR1	NM_003828,p.E96K|ENST00000485376,p.E96K|ENST00000370390,p.E96K|ENST00000451863,p.E96K|ENST00000542156,p.E96K|uc004fei.3,p.E96K|uc004feg.1,p.E96K|ENST00000544228,p.E96K	retained_intron, protein_coding, nonsense_mediated_decay	uc004fei.3	nonsynonymous SNV	exon3	c.G286A	p.E96K	KALRDGNKLAQMEEAPLFPGESIKA	KALRDGNKLAQMKEAPLFPGESIKA	7.0	10.0	unscreened	-	4253_X:149887130-149887130 G>A_KALRDGNKLAQMKEAPLFPGESIKA
X:149887130-149887130 G>A	1.0	4253	MELANOMA	-	-	-	-	MTMR1	ENST00000445323,p.E104K|uc004feh.1,p.E104K	retained_intron, protein_coding, nonsense_mediated_decay	uc004feh.1	nonsynonymous SNV	exon4	c.G310A	p.E104K	RALRDGNKLAQMEEAPLFPGESIKA	RALRDGNKLAQMKEAPLFPGESIKA	7.0	10.0	unscreened	-	4253_X:149887130-149887130 G>A_RALRDGNKLAQMKEAPLFPGESIKA
X:149887130-149887130 G>A	1.0	4253	MELANOMA	-	-	-	-	MTMR1	ENST00000490316,p.E113K|ENST00000436701,p.E77K	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000490316	nonsynonymous SNV	exon4	c.G337A	p.E113K	QALRDGNKLAQMEEAPLFPGESIKA	QALRDGNKLAQMKEAPLFPGESIKA	7.0	10.0	unscreened	-	4253_X:149887130-149887130 G>A_QALRDGNKLAQMKEAPLFPGESIKA
X:149887130-149887130 G>A	1.0	4253	MELANOMA	-	-	-	-	MTMR1	ENST00000438018,p.E60K	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000438018	nonsynonymous SNV	exon4	c.G178A	p.E60K	LALRDGNKLAQMEEAPLFPGESIKA	LALRDGNKLAQMKEAPLFPGESIKA	7.0	10.0	unscreened	-	4253_X:149887130-149887130 G>A_LALRDGNKLAQMKEAPLFPGESIKA
3:37785482-37785482 A>C	1.0	4253	MELANOMA	-	-	-	-	ITGA9	uc003chd.3,p.D797A|ENST00000264741,p.D797A|NM_002207,p.D797A	retained_intron, protein_coding	uc003chd.3	nonsynonymous SNV	exon22	c.A2390C	p.D797A	GESVDAANFIQLDDLECHFQPINIT	GESVDAANFIQLADLECHFQPINIT	9.0	9.0	unscreened	-	4253_3:37785482-37785482 A>C_GESVDAANFIQLADLECHFQPINIT
1:79403949-79403949 C>T	0.0	4253	MELANOMA	-	-	-	-	ELTD1	NM_022159,p.E138K|uc001diq.4,p.E138K|ENST00000370742,p.E138K	protein_coding	uc001diq.4	nonsynonymous SNV	exon5	c.G412A	p.E138K	INKTLTKIRSIKEPVALLQEVYRNS	INKTLTKIRSIKKPVALLQEVYRNS	6.0	10.0	unscreened	-	4253_1:79403949-79403949 C>T_INKTLTKIRSIKKPVALLQEVYRNS
3:122003219-122003219 C>A	0.0	4253	MELANOMA	-	-	-	-	CASR	uc003eev.4,p.F806L|NM_000388,p.F806L|ENST00000498619,p.F816L|uc003eew.4,p.F816L|ENST00000490131,p.F806L|NM_001178065,p.F816L|ENST00000296154,p.F806L	retained_intron, protein_coding	uc003eew.4	nonsynonymous SNV	exon7	c.C2448A	p.F816L	SRKLPENFNEAKFITFSMLIFFIVW	SRKLPENFNEAKLITFSMLIFFIVW	1.0	3.0	unscreened	-	4253_3:122003219-122003219 C>A_SRKLPENFNEAKLITFSMLIFFIVW
20:62164940-62164940 C>T	1.0	4253	MELANOMA	-	-	-	1	PTK6	ENST00000217185,p.D212N|uc002yfg.4,p.D212N|NM_005975,p.D212N|ENST00000542869,p.D111N	protein_coding	uc002yfg.4	nonsynonymous SNV	exon4	c.G634A	p.D212N	GYFGEVFEGLWKDRVQVAIKVISRD	GYFGEVFEGLWKNRVQVAIKVISRD	5.0	8.0	unscreened	-	4253_20:62164940-62164940 C>T_GYFGEVFEGLWKNRVQVAIKVISRD
1:32627989-32627989 C>T	1.0	4253	MELANOMA	-	-	-	-	KPNA6	ENST00000373625,p.R259C|ENST00000446515,p.R166C|ENST00000545542,p.R264C|NM_012316,p.R259C|ENST00000537234,p.R256C|uc010ogx.2,p.R256C|uc010ogy.2,p.R264C|uc001bug.3,p.R259C|uc001buh.3,p.R34C	protein_coding, processed_transcript	uc010ogy.2	nonsynonymous SNV	exon9	c.C790T	p.R264C	FAKVSPCLPVLSRLLFSSDSDLLAD	FAKVSPCLPVLSCLLFSSDSDLLAD	9.0	7.0	unscreened	-	4253_1:32627989-32627989 C>T_FAKVSPCLPVLSCLLFSSDSDLLAD
1:203311479-203311479 C>T	0.0	4253	MELANOMA	-	-	-	-	FMOD	NM_002023,p.E375K|uc001gzr.3,p.E375K|ENST00000354955,p.E375K	protein_coding, processed_transcript	uc001gzr.3	nonsynonymous SNV	exon3	c.G1123A	p.E375K	DAPLCLRLASLIEI	DAPLCLRLASLIKI	8.0	4.0	unscreened	-	4253_1:203311479-203311479 C>T_DAPLCLRLASLIKI
21:10933918-10933918 C>T	1.0	4253	MELANOMA	-	-	-	-	TPTE	uc002yir.1,p.E283K|NM_199259,p.E303K|uc002yiq.1,p.E303K|ENST00000342420,p.E283K|ENST00000298232,p.E303K|NM_199261,p.E321K|uc010gkv.1,p.E183K|uc002yip.1,p.E321K|NM_001290224,p.E183K|ENST00000361285,p.E321K|NM_199260,p.E283K	protein_coding, processed_transcript	uc010gkv.1	nonsynonymous SNV	exon12	c.G547A	p.E183K	VPTLHQMVVFTKEVNEWMAQDLENI	VPTLHQMVVFTKKVNEWMAQDLENI	8.0	4.0	unscreened	-	4253_21:10933918-10933918 C>T_VPTLHQMVVFTKKVNEWMAQDLENI
22:46501485-46501485 C>T	1.0	4253	MELANOMA	-	-	-	-	MIRLET7BHG	uc003bgr.4,p.P135L|ENST00000381051,p.P135L	protein_coding, nonsense_mediated_decay	uc003bgr.4	nonsynonymous SNV	exon5	c.C404T	p.P135L	SGCHPTPRPDSSPCGSWTEHSVTTK	SGCHPTPRPDSSLCGSWTEHSVTTK	9.0	6.0	unscreened	-	4253_22:46501485-46501485 C>T_SGCHPTPRPDSSLCGSWTEHSVTTK
1:60302576-60302576 C>T	1.0	4253	MELANOMA	-	-	-	-	HOOK1	ENST00000371208,p.P169L|uc001czo.3,p.P169L|ENST00000395561,p.P127L|uc009wad.3,p.P169L|NM_015888,p.P169L|uc010oor.2,p.P127L	protein_coding, processed_transcript	uc010oor.2	nonsynonymous SNV	exon7	c.C380T	p.P127L	QELMSKEILSSPPNDAVGELEQQLK	QELMSKEILSSPLNDAVGELEQQLK	6.0	7.0	unscreened	-	4253_1:60302576-60302576 C>T_QELMSKEILSSPLNDAVGELEQQLK
2:102641012-102641012 C>T	1.0	4253	MELANOMA	-	-	-	-	IL1R2	uc002tbn.4,p.P257S|ENST00000441002,p.P257S|NM_004633,p.P257S|ENST00000332549,p.P257S|uc002tbo.2,p.P257S|ENST00000393414,p.P257S|NM_001261419,p.P257S|uc031rop.1,p.P172S|uc002tbm.3,p.P257S	retained_intron, protein_coding, processed_transcript	uc031rop.1	nonsynonymous SNV	exon6	c.C514T	p.P172S	TISASLGSRLTIPCKVFLGTGTPLT	TISASLGSRLTISCKVFLGTGTPLT	7.0	1.0	unscreened	-	4253_2:102641012-102641012 C>T_TISASLGSRLTISCKVFLGTGTPLT
12:96077481-96077481 G>A	0.0	4253	MELANOMA	-	-	-	-	NTN4	ENST00000538383,p.S359F|uc009ztf.3,p.S396F|uc001tei.3,p.S396F|ENST00000344911,p.S359F|ENST00000553059,p.S396F|uc009ztg.3,p.S359F|NM_021229,p.S396F|ENST00000343702,p.S396F	protein_coding, processed_transcript	uc009ztg.3	nonsynonymous SNV	exon6	c.C1076T	p.S359F	RPFSAPDACKPCSCHPVGSAVLPAN	RPFSAPDACKPCFCHPVGSAVLPAN	6.0	10.0	unscreened	-	4253_12:96077481-96077481 G>A_RPFSAPDACKPCFCHPVGSAVLPAN
11:118770668-118770668 G>A	1.0	4253	MELANOMA	-	-	-	1	BCL9L	uc001pug.3,p.P1122S|uc009zal.3,p.P1117S|NM_182557,p.P1122S|ENST00000334801,p.P1122S	protein_coding, processed_transcript	uc009zal.3	nonsynonymous SNV	exon7	c.C3349T	p.P1117S	IATSDDELLPDRPLLPPPPPPQGSG	IATSDDELLPDRSLLPPPPPPQGSG	7.0	9.0	unscreened	-	4253_11:118770668-118770668 G>A_IATSDDELLPDRSLLPPPPPPQGSG
19:10404461-10404461 G>A	0.0	4253	MELANOMA	-	-	-	-	ICAM5	NM_003259,p.G518E|uc002mnu.4,p.G518E|uc002mnv.4,p.G393E|ENST00000221980,p.G518E	retained_intron, protein_coding, processed_transcript	uc002mnv.4	nonsynonymous SNV	exon5	c.G1178A	p.G393E	EGTEASLSCVAHGVPPPDVICVRSG	EGTEASLSCVAHEVPPPDVICVRSG	5.0	3.0	unscreened	-	4253_19:10404461-10404461 G>A_EGTEASLSCVAHEVPPPDVICVRSG
16:90001586-90001586 C>T	1.0	4253	MELANOMA	-	-	-	-	TUBB3	ENST00000304984,p.P171S|uc002fph.2,p.P243S|uc010ciz.1,p.P171S|ENST00000556922,p.P590S|ENST00000555810,p.P171S|ENST00000554444,p.P171S|ENST00000315491,p.P243S|uc002fpf.2,p.P590S|NM_001197181,p.P171S|uc002fpj.1,p.P171S|NM_006086,p.P243S|uc002fpk.1,p.P97S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ciz.1	nonsynonymous SNV	exon4	c.C511T	p.P171S	ATMSGVTTSLRFPGQLNADLRKLAV	ATMSGVTTSLRFSGQLNADLRKLAV	10.0	5.0	unscreened	-	4253_16:90001586-90001586 C>T_ATMSGVTTSLRFSGQLNADLRKLAV
15:81180087-81180087 G>A	0.0	4253	MELANOMA	-	-	-	-	CEMIP	ENST00000220244,p.D284N|NM_001293298,p.D284N|uc002bfw.1,p.D284N|NM_001293304,p.D284N|NM_018689,p.D284N|ENST00000356249,p.D284N|uc010unn.1,p.D284N|ENST00000394685,p.D284N	retained_intron, protein_coding, nonsense_mediated_decay	uc010unn.1	nonsynonymous SNV	exon8	c.G850A	p.D284N	LTVKGNPSSSVEDHIEYHGHRGSAA	LTVKGNPSSSVENHIEYHGHRGSAA	5.0	8.0	unscreened	-	4253_15:81180087-81180087 G>A_LTVKGNPSSSVENHIEYHGHRGSAA
2:99720473-99720473 C>T	1.0	4253	MELANOMA	-	-	-	-	TSGA10	ENST00000393482,p.E190K|NM_182911,p.E190K|ENST00000539964,p.E190K|ENST00000355053,p.E190K|ENST00000409564,p.E190K|ENST00000393483,p.E190K|uc010fin.1,p.E190K|uc002szg.4,p.E190K|ENST00000542655,p.E190K|uc010yvn.1,p.E190K|NM_025244,p.E190K|uc002szh.4,p.E190K|ENST00000410001,p.E190K|uc002szi.4,p.E190K	retained_intron, protein_coding, processed_transcript	uc010yvn.1	nonsynonymous SNV	exon9	c.G568A	p.E190K	EMKSLARKAMDTESELGRQKAENNS	EMKSLARKAMDTKSELGRQKAENNS	6.0	8.0	unscreened	-	4253_2:99720473-99720473 C>T_EMKSLARKAMDTKSELGRQKAENNS
3:113300260-113300260 C>A	0.0	4253	MELANOMA	-	-	-	-	SIDT1	uc021xcn.1,p.S239Y|ENST00000264852,p.S239Y|NM_017699,p.S239Y|ENST00000393830,p.S239Y|uc003eak.3,p.S239Y	retained_intron, protein_coding, processed_transcript	uc021xcn.1	nonsynonymous SNV	exon6	c.C716A	p.S239Y	LDHNVEFNGVYQSMTKKAAITLQKK	LDHNVEFNGVYQYMTKKAAITLQKK	4.0	3.0	unscreened	-	4253_3:113300260-113300260 C>A_LDHNVEFNGVYQYMTKKAAITLQKK
11:614851-614851 C>T	1.0	4253	MELANOMA	-	-	-	-	IRF7	NM_004029,p.D114N|ENST00000469048,p.D114N|ENST00000397574,p.D114N|NM_004031,p.D127N|ENST00000532326,p.D114N|ENST00000330243,p.D127N|uc001lqi.3,p.D114N|ENST00000532788,p.D127N|uc001lqg.3,p.D127N|ENST00000533182,p.D114N|ENST00000348655,p.D114N|NM_001572,p.D114N|ENST00000397566,p.D127N|uc031pxz.1,p.D127N|ENST00000397570,p.D114N|uc010qwf.2,p.D114N|uc001lqh.3,p.D114N	retained_intron, protein_coding, nonsense_mediated_decay	uc031pxz.1	nonsynonymous SNV	exon2	c.G379A	p.D127N	TRRFVMLRDNSGDPADPHKVYALSR	TRRFVMLRDNSGNPADPHKVYALSR	10.0	8.0	unscreened	-	4253_11:614851-614851 C>T_TRRFVMLRDNSGNPADPHKVYALSR
15:58302966-58302966 G>C	0.0	4253	MELANOMA	-	-	-	-	ALDH1A2	uc002aex.3,p.S125C|ENST00000559517,p.S29C|ENST00000537372,p.S104C|uc010ugw.2,p.S96C|uc010ugv.2,p.S104C|ENST00000561070,p.S29C|ENST00000249750,p.S125C|ENST00000347587,p.S125C|NM_001206897,p.S104C|NM_170696,p.S125C|uc002aew.3,p.S29C|ENST00000558231,p.S96C|NM_003888,p.S125C|NM_170697,p.S29C|uc002aey.3,p.S125C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ugw.2	nonsynonymous SNV	exon4	c.C287G	p.S96C	VERDRAVLATMESLNGGKPFLQAFY	VERDRAVLATMECLNGGKPFLQAFY	6.0	10.0	unscreened	-	4253_15:58302966-58302966 G>C_VERDRAVLATMECLNGGKPFLQAFY
8:145773865-145773865 G>A	0.0	4253	MELANOMA	-	-	-	-	ARHGAP39	ENST00000377307,p.S202L|ENST00000540274,p.S202L|ENST00000276826,p.S202L|uc011llk.1,p.S202L|uc003zds.1,p.S202L|uc003zdt.1,p.S202L|NM_025251,p.S202L	protein_coding, processed_transcript	uc011llk.1	nonsynonymous SNV	exon5	c.C605T	p.S202L	SADGQLLHYRTSSLRWNSGAKERML	SADGQLLHYRTSLLRWNSGAKERML	7.0	1.0	unscreened	-	4253_8:145773865-145773865 G>A_SADGQLLHYRTSLLRWNSGAKERML
7:117251810-117251810 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1699246;OCCURENCE=1(skin)	-	CFTR	NM_000492,p.M1105I|uc011knq.2,p.M511I|uc003vjd.3,p.M1105I|ENST00000454343,p.M1044I|ENST00000426809,p.M1075I|ENST00000003084,p.M1105I	protein_coding, processed_transcript, nonsense_mediated_decay	uc011knq.2	nonsynonymous SNV	exon20	c.G1533A	p.M511I	LSTLRWFQMRIEMIFVIFFIAVTFI	LSTLRWFQMRIEIIFVIFFIAVTFI	1.0	5.0	unscreened	-	4253_7:117251810-117251810 G>A_LSTLRWFQMRIEIIFVIFFIAVTFI
14:45633685-45633685 C>T	1.0	4253	MELANOMA	-	-	ID=COSM170515;OCCURENCE=1(large_intestine),1(skin)	-	FANCM	NM_020937,p.R569C|uc001wwc.2,p.R569C|ENST00000267430,p.R569C|ENST00000542564,p.R543C|ENST00000556036,p.R569C|uc001wwd.4,p.R569C|uc010anf.3,p.R543C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010anf.3	nonsynonymous SNV	exon9	c.C1627T	p.R543C	LIICFDSQKSPIRLVQRMGRTGRKR	LIICFDSQKSPICLVQRMGRTGRKR	7.0	2.0	unscreened	-	4253_14:45633685-45633685 C>T_LIICFDSQKSPICLVQRMGRTGRKR
11:94318661-94318661 C>T	0.0	4253	MELANOMA	-	-	-	-	PIWIL4	ENST00000299001,p.P229L|ENST00000543336,p.P160L|ENST00000446230,p.P202L|NM_152431,p.P229L|uc001pfa.3,p.P229L	protein_coding, nonsense_mediated_decay	uc001pfa.3	nonsynonymous SNV	exon6	c.C686T	p.P229L	LSMYQIGRNFYNPSEPMEIPQHKLS	LSMYQIGRNFYNLSEPMEIPQHKLS	5.0	2.0	unscreened	-	4253_11:94318661-94318661 C>T_LSMYQIGRNFYNLSEPMEIPQHKLS
2:204305202-204305202 C>G	1.0	4253	MELANOMA	-	-	-	-	RAPH1	uc002vad.3,p.W904S|NM_213589,p.W904S|ENST00000319170,p.W904S|ENST00000374493,p.W956S	retained_intron, protein_coding	uc002vad.3	nonsynonymous SNV	exon14	c.G2711C	p.W904S	PQSPPAVKAKPKWQPSSIPVPSPDF	PQSPPAVKAKPKSQPSSIPVPSPDF	6.0	2.0	unscreened	-	4253_2:204305202-204305202 C>G_PQSPPAVKAKPKSQPSSIPVPSPDF
1:220805590-220805590 T>G	0.0	4253	MELANOMA	-	-	-	-	MARK1	NM_001286128,p.L331V|ENST00000366917,p.L353V|uc001hmm.4,p.L331V|ENST00000402574,p.L218V|NM_001286126,p.L353V|uc009xdw.3,p.L353V|uc010pun.2,p.L353V|ENST00000366918,p.L331V|uc001hmn.4,p.L353V|NM_001286124,p.L353V|NM_018650,p.L353V	protein_coding, processed_transcript	uc010pun.2	nonsynonymous SNV	exon11	c.T1057G	p.L353V	TMGFARDEINDALINQKYDEVMATY	TMGFARDEINDAVINQKYDEVMATY	6.0	9.0	unscreened	-	4253_1:220805590-220805590 T>G_TMGFARDEINDAVINQKYDEVMATY
2:152418643-152418643 G>A	0.0	4253	MELANOMA	-	-	-	-	NEB	uc021vrb.1,p.S4625L|uc031rpp.1,p.S6326L|ENST00000409198,p.S4625L|ENST00000427231,p.S6326L|NM_001271208,p.S6326L|uc002txr.3,p.S1091L|ENST00000604864,p.S6326L|ENST00000603639,p.S6326L|ENST00000172853,p.S4625L|NM_001164508,p.S6326L|uc021vrd.1,p.S4625L|uc021vrc.1,p.S6326L|ENST00000413693,p.S1056L|ENST00000397345,p.S6326L|uc002txu.3,p.S6326L|NM_001164507,p.S6326L	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon121	c.C18977T	p.S6326L	VWDTPQILHAKKSYDLQSQLQYTAA	VWDTPQILHAKKLYDLQSQLQYTAA	6.0	3.0	unscreened	-	4253_2:152418643-152418643 G>A_VWDTPQILHAKKLYDLQSQLQYTAA
13:102235598-102235598 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1737048;OCCURENCE=1(central_nervous_system)	-	ITGBL1	ENST00000376162,p.D161N|uc031qnc.1,p.D161N|uc010agb.4,p.D205N|ENST00000376180,p.D254N|ENST00000545560,p.D113N|NM_001271754,p.D113N|uc001vpc.5,p.D113N|NM_001271755,p.D205N|uc001vpb.4,p.D254N|NM_001271756,p.D161N|NM_004791,p.D254N	protein_coding, processed_transcript	uc031qnc.1	nonsynonymous SNV	exon5	c.G481A	p.D161N	RGTCVCGECTCHDVDPTGDWGDIHG	RGTCVCGECTCHNVDPTGDWGDIHG	8.0	4.0	unscreened	-	4253_13:102235598-102235598 G>A_RGTCVCGECTCHNVDPTGDWGDIHG
3:138738821-138738821 G>A	0.0	4253	MELANOMA	-	-	-	-	PRR23B	ENST00000329447,p.S228L|NM_001013650,p.S228L|uc003esy.1,p.S228L	protein_coding	uc003esy.1	nonsynonymous SNV	exon1	c.C683T	p.S228L	DLEFRLLEPVPSSPLQPLPPSPCVG	DLEFRLLEPVPSLPLQPLPPSPCVG	1.0	3.0	unscreened	-	4253_3:138738821-138738821 G>A_DLEFRLLEPVPSLPLQPLPPSPCVG
11:43775623-43775623 C>T	1.0	4253	MELANOMA	-	-	-	-	HSD17B12	ENST00000278353,p.L79F|NM_016142,p.L79F|ENST00000395700,p.L79F|uc001mxq.4,p.L79F	retained_intron, protein_coding, processed_transcript	uc001mxq.4	nonsynonymous SNV	exon3	c.C235T	p.L79F	AEELAKHGMKVVLISRSKDKLDQVS	AEELAKHGMKVVFISRSKDKLDQVS	9.0	8.0	unscreened	-	4253_11:43775623-43775623 C>T_AEELAKHGMKVVFISRSKDKLDQVS
12:18658367-18658367 C>T	0.0	4253	MELANOMA	-	-	-	-	PIK3C2G	ENST00000433979,p.H1058Y|NM_004570,p.H1058Y|ENST00000266497,p.H1058Y|uc001rdt.3,p.H1058Y|NM_001288774,p.H877Y|NM_001288772,p.H1099Y|ENST00000538779,p.H1099Y|uc010sib.2,p.H1099Y|uc010sic.2,p.H877Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sic.2	nonsynonymous SNV	exon23	c.C2629T	p.H877Y	HMFHIDFGKFLGHAQTFGGIKRDRA	HMFHIDFGKFLGYAQTFGGIKRDRA	1.0	9.0	unscreened	-	4253_12:18658367-18658367 C>T_HMFHIDFGKFLGYAQTFGGIKRDRA
1:25229151-25229151 G>A	1.0	4253	MELANOMA	-	-	-	-	RUNX3	uc010oen.2,p.S184L	protein_coding, processed_transcript	uc010oen.2	nonsynonymous SNV	exon4	c.C551T	p.S184L	VTVDGPREPRRTSELNPFSDPRQFD	VTVDGPREPRRTLELNPFSDPRQFD	8.0	6.0	unscreened	-	4253_1:25229151-25229151 G>A_VTVDGPREPRRTLELNPFSDPRQFD
2:167322392-167322392 C>T	0.0	4253	MELANOMA	-	-	-	-	SCN7A	ENST00000441411,p.G257E|ENST00000419992,p.G257E|ENST00000409855,p.G257E|uc002udu.2,p.G257E|NM_002976,p.G257E|ENST00000424326,p.G257E	retained_intron, protein_coding, nonsense_mediated_decay	uc002udu.2	nonsynonymous SNV	exon7	c.G770A	p.G257E	LFFLSIFSLIGMGLFMGNLKHKCFR	LFFLSIFSLIGMELFMGNLKHKCFR	5.0	2.0	unscreened	-	4253_2:167322392-167322392 C>T_LFFLSIFSLIGMELFMGNLKHKCFR
19:15852753-15852753 C>T	0.0	4253	MELANOMA	-	-	-	-	OR10H3	NM_013938,p.S184F|uc010xoq.2,p.S184F|ENST00000305892,p.S184F	protein_coding	uc010xoq.2	nonsynonymous SNV	exon1	c.C551T	p.S184F	SNVIHHFLCHVLSLLKLACGSKTSS	SNVIHHFLCHVLFLLKLACGSKTSS	1.0	8.0	unscreened	-	4253_19:15852753-15852753 C>T_SNVIHHFLCHVLFLLKLACGSKTSS
15:34159999-34159999 C>T	1.0	4253	MELANOMA	-	-	-	-	AVEN	ENST00000306730,p.G224R|NM_020371,p.G224R|uc001zhj.3,p.G224R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001zhj.3	nonsynonymous SNV	exon5	c.G670A	p.G224R	PQVKPKRTDDGKGLGMQLKGPLGPG	PQVKPKRTDDGKRLGMQLKGPLGPG	7.0	8.0	unscreened	-	4253_15:34159999-34159999 C>T_PQVKPKRTDDGKRLGMQLKGPLGPG
7:41729807-41729807 C>T	0.0	4253	MELANOMA	-	-	-	-	INHBA	ENST00000442711,p.R241Q|uc003thq.3,p.R241Q|NM_002192,p.R241Q|uc003thr.3,p.R241Q|ENST00000242208,p.R241Q	protein_coding, processed_transcript	uc003thr.3	nonsynonymous SNV	exon3	c.G722A	p.R241Q	RLLDQGKSSLDVRIACEQCQESGAS	RLLDQGKSSLDVQIACEQCQESGAS	8.0	1.0	unscreened	-	4253_7:41729807-41729807 C>T_RLLDQGKSSLDVQIACEQCQESGAS
3:3888178-3888178 C>T	1.0	4253	MELANOMA	-	-	-	-	LRRN1	NM_020873,p.A618V|uc021wsh.1,p.A618V|uc003bpt.4,p.A618V|ENST00000319331,p.A618V	retained_intron, protein_coding, processed_transcript	uc021wsh.1	nonsynonymous SNV	exon1	c.C1853T	p.A618V	QKSCVNVTTKNAAFAVDISDQETST	QKSCVNVTTKNAVFAVDISDQETST	6.0	1.0	unscreened	-	4253_3:3888178-3888178 C>T_QKSCVNVTTKNAVFAVDISDQETST
5:150429478-150429478 C>A	1.0	4253	MELANOMA	-	-	-	-	TNIP1	ENST00000524280,p.L251F|uc021ygb.1,p.L251F|uc003lti.4,p.L251F|uc010jhq.2,p.L198F|uc031slv.1,p.L251F|uc010jhp.2,p.L198F|uc003ltg.4,p.L198F|NM_001258456,p.L251F|ENST00000315050,p.L251F|NM_001252386,p.L198F|NM_001258455,p.L251F|ENST00000523200,p.L251F|NM_001258454,p.L251F|uc011dco.3,p.L251F|NM_001252390,p.L251F|NM_001252393,p.L251F|uc010jhn.4,p.L251F|ENST00000521591,p.L251F|ENST00000519339,p.L198F|NM_006058,p.L251F|NM_001252391,p.L251F|uc003ltj.3,p.L251F|ENST00000522100,p.L198F|ENST00000520931,p.L198F|ENST00000522226,p.L251F|ENST00000389378,p.L251F|uc003ltk.3,p.L251F|uc010jhr.3,p.L251F|NM_001252392,p.L251F|NM_001252385,p.L251F|ENST00000523338,p.L251F|ENST00000518977,p.L251F|uc010jhm.4,p.L251F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031slv.1	nonsynonymous SNV	exon8	c.G753T	p.L251F	RLREENLELKKLLMSNGNKEGASGR	RLREENLELKKLFMSNGNKEGASGR	10.0	4.0	unscreened	-	4253_5:150429478-150429478 C>A_RLREENLELKKLFMSNGNKEGASGR
7:20766738-20766738 G>A	1.0	4253	MELANOMA	-	-	-	-	ABCB5	NM_178559,p.E456K|ENST00000258738,p.E456K|uc010kuh.3,p.E901K|uc003suw.4,p.E456K|uc003sux.1,p.E79K|ENST00000404938,p.E901K|ENST00000441315,p.E68K|NM_001163941,p.E901K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kuh.3	nonsynonymous SNV	exon22	c.G2701A	p.E901K	SLTREKAFEQMYEEMLQTQHRNTSK	SLTREKAFEQMYKEMLQTQHRNTSK	8.0	1.0	unscreened	-	4253_7:20766738-20766738 G>A_SLTREKAFEQMYKEMLQTQHRNTSK
19:48845941-48845941 G>A	0.0	4253	MELANOMA	-	-	-	-	TMEM143	ENST00000377431,p.P174L|uc010xzo.1,p.P64L|uc010elw.1,p.P174L|NM_018273,p.P274L|ENST00000436660,p.P209L|ENST00000293261,p.P274L|uc010xzn.1,p.P209L|uc002piy.1,p.P239L|ENST00000435956,p.P239L|uc002pix.1,p.P274L|ENST00000541566,p.P164L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xzo.1	nonsynonymous SNV	exon4	c.C191T	p.P64L	LEQLLPELKVRTPTLQRALLNLMLV	LEQLLPELKVRTLTLQRALLNLMLV	7.0	3.0	unscreened	-	4253_19:48845941-48845941 G>A_LEQLLPELKVRTLTLQRALLNLMLV
X:128902444-128902444 C>T	0.0	4253	MELANOMA	-	-	-	-	XPNPEP2	ENST00000371106,p.L670F|uc004eut.1,p.L670F|NM_003399,p.L670F	protein_coding	uc004eut.1	nonsynonymous SNV	exon21	c.C2008T	p.L670F	WASVLVVSTLAILGWSV	WASVLVVSTLAIFGWSV	4.0	10.0	unscreened	-	4253_X:128902444-128902444 C>T_WASVLVVSTLAIFGWSV
14:100828194-100828194 C>T	1.0	4253	MELANOMA	-	-	-	-	WARS	ENST00000556435,p.G14E|uc001yhg.2,p.G55E|uc001yhh.1,p.G55E|ENST00000557297,p.G14E|ENST00000555410,p.G89E|NM_213645,p.G14E|ENST00000556645,p.G14E|ENST00000355338,p.G55E|ENST00000554820,p.G55E|uc010twz.1,p.G55E|ENST00000554605,p.G55E|ENST00000557135,p.G55E|ENST00000554509,p.G89E|ENST00000556338,p.G14E|uc001yhi.1,p.G14E|NM_173701,p.G55E|ENST00000556660,p.G55E|ENST00000553413,p.G55E|ENST00000554772,p.G55E|uc001yhl.1,p.G55E|uc001yhk.1,p.G14E|ENST00000556698,p.G55E|ENST00000358655,p.G14E|ENST00000553545,p.G55E|ENST00000553395,p.G14E|NM_004184,p.G55E|ENST00000344102,p.G14E|ENST00000553769,p.G55E|ENST00000556209,p.G55E|ENST00000553524,p.G55E|ENST00000557722,p.G55E|ENST00000392882,p.G55E|ENST00000556504,p.G14E|NM_213646,p.G14E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010twz.1	nonsynonymous SNV	exon3	c.G164A	p.G55E	LVSLKMSYKAAAGEDYKADCPPGNP	LVSLKMSYKAAAEEDYKADCPPGNP	10.0	10.0	unscreened	-	4253_14:100828194-100828194 C>T_LVSLKMSYKAAAEEDYKADCPPGNP
13:99127124-99127124 G>T	0.0	4253	MELANOMA	-	-	-	-	STK24	NM_001032296,p.P183Q|uc001vnm.1,p.P195Q|uc010tim.1,p.P164Q|NM_003576,p.P195Q|ENST00000539966,p.P164Q|uc001vnn.1,p.P183Q|NM_001286649,p.P164Q|ENST00000376547,p.P195Q|ENST00000397517,p.P183Q	protein_coding, processed_transcript	uc010tim.1	nonsynonymous SNV	exon4	c.C491A	p.P164Q	DTQIKRNTFVGTPFWMAPEVIKQSA	DTQIKRNTFVGTQFWMAPEVIKQSA	8.0	3.0	unscreened	-	4253_13:99127124-99127124 G>T_DTQIKRNTFVGTQFWMAPEVIKQSA
2:111408266-111408266 A>G	1.0	4253	MELANOMA	-	-	-	-	BUB1	ENST00000409311,p.L687P|ENST00000535254,p.L667P|NM_004336,p.L687P|NM_001278617,p.L687P|uc010yxh.2,p.L667P|uc002tgc.3,p.L687P|NM_001278616,p.L667P|ENST00000302759,p.L687P|uc010fkb.3,p.L687P	retained_intron, protein_coding, processed_transcript	uc010yxh.2	nonsynonymous SNV	exon17	c.T2000C	p.L667P	LLRLSQPAAGGVLTCEAELGVEACR	LLRLSQPAAGGVPTCEAELGVEACR	7.0	2.0	unscreened	-	4253_2:111408266-111408266 A>G_LLRLSQPAAGGVPTCEAELGVEACR
20:31670800-31670800 C>T	0.0	4253	MELANOMA	-	-	-	-	BPIFB4	NM_182519,p.P55S|uc010zue.2,p.P55S|ENST00000375483,p.P55S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zue.2	nonsynonymous SNV	exon2	c.C163T	p.P55S	QSDALHSALREVPLGVGDIPYNDFH	QSDALHSALREVSLGVGDIPYNDFH	7.0	6.0	unscreened	-	4253_20:31670800-31670800 C>T_QSDALHSALREVSLGVGDIPYNDFH
11:96125091-96125091 G>C	1.0	4253	MELANOMA	-	-	-	-	JRKL	ENST00000458427,p.E426D|NM_001261833,p.E426D|uc009ywu.4,p.E426D|NM_003772,p.E426D|ENST00000332349,p.E426D|uc001pfy.2,p.E426D	protein_coding, processed_transcript	uc009ywu.4	nonsynonymous SNV	exon2	c.G1278C	p.E426D	LQHTKGLENVTTENLEKWLEVDSTE	LQHTKGLENVTTDNLEKWLEVDSTE	7.0	8.0	unscreened	-	4253_11:96125091-96125091 G>C_LQHTKGLENVTTDNLEKWLEVDSTE
12:124415009-124415009 G>A	0.0	4253	MELANOMA	-	-	-	-	DNAH10	NM_207437,p.D4107N|uc001uft.4,p.D4107N|ENST00000409039,p.D4107N|uc001ufu.4,p.D20N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ufu.4	nonsynonymous SNV	exon5	c.G58A	p.D20N	DSFDRRILTIYMDEYLGDFIFDTFQ	DSFDRRILTIYMNEYLGDFIFDTFQ	4.0	6.0	unscreened	-	4253_12:124415009-124415009 G>A_DSFDRRILTIYMNEYLGDFIFDTFQ
8:23190942-23190942 G>A	1.0	4253	MELANOMA	-	-	-	-	LOXL2	ENST00000389131,p.S313L|uc003xdh.1,p.S313L|NM_002318,p.S313L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xdh.1	nonsynonymous SNV	exon5	c.C938T	p.S313L	CVPGQVFSPDGPSRFRKAYKPEQPL	CVPGQVFSPDGPLRFRKAYKPEQPL	9.0	4.0	unscreened	-	4253_8:23190942-23190942 G>A_CVPGQVFSPDGPLRFRKAYKPEQPL
19:3612054-3612054 G>A	1.0	4253	MELANOMA	-	-	-	-	CACTIN	uc021umw.1,p.G88E	retained_intron, protein_coding, nonsense_mediated_decay	uc021umw.1	nonsynonymous SNV	exon3	c.G263A	p.G88E	LAVDDLESDVLVGRPRVEAQDGEIL	LAVDDLESDVLVERPRVEAQDGEIL	9.0	10.0	unscreened	-	4253_19:3612054-3612054 G>A_LAVDDLESDVLVERPRVEAQDGEIL
2:196620988-196620988 C>T	0.0	4253	MELANOMA	-	-	-	-	DNAH7	ENST00000312428,p.D3819N|NM_018897,p.D3819N|uc002uti.4,p.D302N|ENST00000409063,p.D302N|uc002utj.4,p.D3819N	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon62	c.G11455A	p.D3819N	QKAIKGLAVMSTDLEEVVSSILNVK	QKAIKGLAVMSTNLEEVVSSILNVK	6.0	2.0	unscreened	-	4253_2:196620988-196620988 C>T_QKAIKGLAVMSTNLEEVVSSILNVK
12:101555823-101555823 G>A	0.0	4253	MELANOMA	-	-	-	-	SLC5A8	NM_145913,p.S520L|ENST00000536262,p.S520L|uc001thz.4,p.S520L	protein_coding	uc001thz.4	nonsynonymous SNV	exon13	c.C1559T	p.S520L	QRTPLMDNWYSLSYLYFSTVGTLVT	QRTPLMDNWYSLLYLYFSTVGTLVT	1.0	5.0	unscreened	-	4253_12:101555823-101555823 G>A_QRTPLMDNWYSLLYLYFSTVGTLVT
11:76867085-76867085 A>T	0.0	4253	MELANOMA	-	-	-	-	MYO7A	uc001oyb.2,p.N140Y|uc010rsl.2,p.N140Y|NM_000260,p.N140Y|NM_001127179,p.N140Y|ENST00000409619,p.N129Y|ENST00000409709,p.N140Y|NM_001127180,p.N140Y|ENST00000409893,p.N140Y|uc001oyc.2,p.N140Y|uc010rsm.1,p.N129Y|ENST00000458637,p.N140Y	retained_intron, protein_coding, processed_transcript	uc010rsm.1	nonsynonymous SNV	exon6	c.A385T	p.N129Y	GEMPPHIFAIADNCYFNMKRNSRDQ	GEMPPHIFAIADYCYFNMKRNSRDQ	7.0	9.0	unscreened	-	4253_11:76867085-76867085 A>T_GEMPPHIFAIADYCYFNMKRNSRDQ
13:99127125-99127125 G>A	0.0	4253	MELANOMA	-	-	-	-	STK24	NM_001286649,p.P164S|uc010tim.1,p.P164S|uc001vnn.1,p.P183S|ENST00000376547,p.P195S|ENST00000397517,p.P183S|ENST00000539966,p.P164S|NM_001032296,p.P183S|uc001vnm.1,p.P195S|NM_003576,p.P195S	protein_coding, processed_transcript	uc010tim.1	nonsynonymous SNV	exon4	c.C490T	p.P164S	DTQIKRNTFVGTPFWMAPEVIKQSA	DTQIKRNTFVGTSFWMAPEVIKQSA	8.0	3.0	unscreened	-	4253_13:99127125-99127125 G>A_DTQIKRNTFVGTSFWMAPEVIKQSA
1:226065157-226065157 G>C	1.0	4253	MELANOMA	-	-	-	-	TMEM63A	uc001hpm.2,p.L42V|ENST00000436966,p.L42V|NM_014698,p.L42V|uc010pvi.1,p.L42V|ENST00000366835,p.L42V	protein_coding, processed_transcript	uc010pvi.1	nonsynonymous SNV	exon1	c.C124G	p.L42V	SYCYNSAKNSTVLQGVTFGGIPTVL	SYCYNSAKNSTVVQGVTFGGIPTVL	8.0	8.0	unscreened	-	4253_1:226065157-226065157 G>C_SYCYNSAKNSTVVQGVTFGGIPTVL
5:140515474-140515474 C>T	0.0	4253	MELANOMA	-	-	-	-	PCDHB5	NM_015669,p.P153L|ENST00000231134,p.P153L|uc003liq.3,p.P153L	protein_coding	uc003liq.3	nonsynonymous SNV	exon1	c.C458T	p.P153L	KIPESTQPGTVFPLKIAQDFDIGSN	KIPESTQPGTVFLLKIAQDFDIGSN	7.0	5.0	unscreened	-	4253_5:140515474-140515474 C>T_KIPESTQPGTVFLLKIAQDFDIGSN
11:86159249-86159249 G>A	1.0	4253	MELANOMA	-	-	-	-	ME3	uc009yvk.3,p.P394S|uc001pbz.3,p.P394S|ENST00000393324,p.P394S|ENST00000359636,p.P394S|ENST00000524826,p.P394S|NM_001161586,p.P394S|uc001pca.3,p.P394S|NM_001014811,p.P394S|ENST00000543262,p.P394S|NM_006680,p.P394S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yvk.3	nonsynonymous SNV	exon11	c.C1180T	p.P394S	LNHEKEMFAQDHPEVNSLEEVVRLV	LNHEKEMFAQDHSEVNSLEEVVRLV	5.0	9.0	unscreened	-	4253_11:86159249-86159249 G>A_LNHEKEMFAQDHSEVNSLEEVVRLV
12:119966544-119966544 G>A	0.0	4253	MELANOMA	-	-	-	-	CCDC60	NM_178499,p.D452N|ENST00000327554,p.D452N|uc001txe.3,p.D452N	protein_coding, processed_transcript	uc001txe.3	nonsynonymous SNV	exon12	c.G1354A	p.D452N	ISVVKGDAEEIADHWYFDLLSKLPE	ISVVKGDAEEIANHWYFDLLSKLPE	1.0	7.0	unscreened	-	4253_12:119966544-119966544 G>A_ISVVKGDAEEIANHWYFDLLSKLPE
1:247752428-247752428 G>A	0.0	4253	MELANOMA	-	-	-	-	OR2G2	uc010pyy.2,p.G256E|NM_001001915,p.G256E|ENST00000320065,p.G256E	protein_coding	uc010pyy.2	nonsynonymous SNV	exon1	c.G767A	p.G256E	CFSHLTVVTIFYGTIIFMYLQPAKS	CFSHLTVVTIFYETIIFMYLQPAKS	1.0	4.0	unscreened	-	4253_1:247752428-247752428 G>A_CFSHLTVVTIFYETIIFMYLQPAKS
1:248551211-248551225 GCTTTCTCTACATGG>-	0.0	4253	MELANOMA	-	-	-	-	OR2T6	ENST00000355728,p.101_106del|NM_001005471,p.101_106del|uc001iei.1,p.101_106del	protein_coding	uc001iei.1	nonframeshift deletion	exon1	c.302_316del	p.101_106del	EGTISFIACTAQCFLYMGFMGAEFF	EGTISFIACTAQCFMGAEFFLLGLM	1.0	4.0	unscreened	-	4253_1:248551211-248551225 GCTTTCTCTACATGG>-_EGTISFIACTAQCFMGAEFFLLGLM
18:10677847-10677847 C>T	1.0	4253	MELANOMA	-	-	-	-	PIEZO2	uc002kos.2,p.E2547K|NM_022068,p.E2547K|ENST00000580640,p.E2572K|ENST00000285141,p.E339K|ENST00000302079,p.E2484K|ENST00000538948,p.E504K|ENST00000503781,p.E2547K|uc002koq.3,p.E339K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kos.2	nonsynonymous SNV	exon49	c.G7639A	p.E2547K	SIQRNLSLGAKSEIATDKLSFPLKN	SIQRNLSLGAKSKIATDKLSFPLKN	7.0	8.0	unscreened	-	4253_18:10677847-10677847 C>T_SIQRNLSLGAKSKIATDKLSFPLKN
1:225546313-225546313 G>A	1.0	4253	MELANOMA	-	-	-	-	DNAH14	ENST00000430092,p.G3819E|NM_001373,p.G3819E|uc001how.2,p.G3819E|ENST00000439375,p.G3819E|ENST00000445597,p.G3055E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon72	c.G11456A	p.G3819E	QRTGVNLKDAYKGSNARTPLILIQT	QRTGVNLKDAYKESNARTPLILIQT	8.0	1.0	unscreened	-	4253_1:225546313-225546313 G>A_QRTGVNLKDAYKESNARTPLILIQT
19:40384077-40384077 G>A	0.0	4253	MELANOMA	-	-	ID=COSM996461;OCCURENCE=1(endometrium)	-	FCGBP	NM_003890,p.A3178V|ENST00000221347,p.A3178V|uc002omp.4,p.A3178V	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon21	c.C9533T	p.A3178V	ASCPSPAPLTTPAVCEGPCVEGCQC	ASCPSPAPLTTPVVCEGPCVEGCQC	5.0	4.0	unscreened	-	4253_19:40384077-40384077 G>A_ASCPSPAPLTTPVVCEGPCVEGCQC
3:49213190-49213190 C>T	1.0	4253	MELANOMA	-	-	-	-	KLHDC8B	uc003cwh.3,p.P341S|NM_173546,p.P341S|ENST00000332780,p.P341S	retained_intron, protein_coding, processed_transcript	uc003cwh.3	nonsynonymous SNV	exon6	c.C1021T	p.P341S	PRLFVIGGVAQGPSQAVEALCLRDG	PRLFVIGGVAQGSSQAVEALCLRDG	10.0	9.0	unscreened	-	4253_3:49213190-49213190 C>T_PRLFVIGGVAQGSSQAVEALCLRDG
4:46066470-46066470 C>T	1.0	4253	MELANOMA	-	-	-	-	GABRG1	NM_173536,p.E205K|ENST00000295452,p.E205K|uc003gxb.3,p.E205K	protein_coding	uc003gxb.3	nonsynonymous SNV	exon5	c.G613A	p.E205K	HNFPMDEHSCPLEFSSYGYPKNEIE	HNFPMDEHSCPLKFSSYGYPKNEIE	3.0	7.0	-	-	4253_4:46066470-46066470 C>T_HNFPMDEHSCPLKFSSYGYPKNEIE
1:65095068-65095068 G>A	1.0	4253	MELANOMA	-	-	-	-	CACHD1	uc001dbo.1,p.G132E|ENST00000290039,p.G132E|NM_020925,p.G132E|ENST00000371073,p.G183E	retained_intron, protein_coding, processed_transcript	uc001dbo.1	nonsynonymous SNV	exon5	c.G395A	p.G132E	NSVLADNLKSNPGIKWQYFSSEEGI	NSVLADNLKSNPEIKWQYFSSEEGI	5.0	6.0	unscreened	-	4253_1:65095068-65095068 G>A_NSVLADNLKSNPEIKWQYFSSEEGI
9:113169965-113169965 C>T	0.0	4253	MELANOMA	-	-	-	-	SVEP1	uc010mty.3,p.D565N|ENST00000297826,p.D565N|NM_153366,p.D2639N|uc010mtz.3,p.D2639N|ENST00000401783,p.D2639N|ENST00000374469,p.D2616N	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon38	c.G7915A	p.D2639N	LKDDQGYFEQEDDMMEVPYVTPHPP	LKDDQGYFEQEDNMMEVPYVTPHPP	5.0	10.0	unscreened	-	4253_9:113169965-113169965 C>T_LKDDQGYFEQEDNMMEVPYVTPHPP
16:81249856-81249856 C>T	0.0	4253	MELANOMA	-	-	-	-	PKD1L2	ENST00000599697,p.E153K|ENST00000337114,p.E153K|uc002fgj.3,p.E153K|NM_001076780,p.E153K	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	uc002fgj.3	nonsynonymous SNV	exon2	c.G457A	p.E153K	TSDCAQTFAFMCEFRVGQSLACEGL	TSDCAQTFAFMCKFRVGQSLACEGL	7.0	6.0	unscreened	-	4253_16:81249856-81249856 C>T_TSDCAQTFAFMCKFRVGQSLACEGL
3:111672874-111672874 G>C	0.0	4253	MELANOMA	-	-	-	-	PHLDB2	ENST00000498699,p.R914T|ENST00000393923,p.R941T|uc003dyi.3,p.R448T|ENST00000481953,p.R914T|uc003dyd.3,p.R914T|uc003dyg.3,p.R957T|uc010hqa.3,p.R957T|ENST00000412622,p.R914T|ENST00000431670,p.R957T|NM_001134439,p.R957T|ENST00000495180,p.R448T|uc003dyh.3,p.R914T|NM_001134438,p.R957T|NM_001134437,p.R941T|uc003dyc.3,p.R941T|ENST00000393925,p.R957T|NM_145753,p.R914T	retained_intron, protein_coding, processed_transcript	uc010hqa.3	nonsynonymous SNV	exon12	c.G2870C	p.R957T	AMAKDSESRRMLRGYNHQQMSEGHR	AMAKDSESRRMLTGYNHQQMSEGHR	8.0	1.0	unscreened	-	4253_3:111672874-111672874 G>C_AMAKDSESRRMLTGYNHQQMSEGHR
4:110772818-110772818 C>T	0.0	4253	MELANOMA	-	-	-	-	LRIT3	uc031sgv.1,p.S92F|ENST00000379920,p.S47F|NM_198506,p.S92F|ENST00000594814,p.S92F	protein_coding	uc031sgv.1	nonsynonymous SNV	exon2	c.C275T	p.S92F	LVELQYLWVTYNSVASIDPSSFYNL	LVELQYLWVTYNFVASIDPSSFYNL	4.0	7.0	unscreened	-	4253_4:110772818-110772818 C>T_LVELQYLWVTYNFVASIDPSSFYNL
6:87968328-87968328 A>G	0.0	4253	MELANOMA	0.0005	-	-	-	ZNF292	ENST00000369577,p.S1661G|ENST00000339907,p.S1656G|NM_015021,p.S1661G|uc003plm.4,p.S1661G	protein_coding, processed_transcript	uc003plm.4	nonsynonymous SNV	exon8	c.A4981G	p.S1661G	TSDLTTMGLIAKSVEIPTTNLHSNV	TSDLTTMGLIAKGVEIPTTNLHSNV	9.0	1.0	unscreened	-	4253_6:87968328-87968328 A>G_TSDLTTMGLIAKGVEIPTTNLHSNV
1:13036500-13036500 C>T	0.0	4253	MELANOMA	-	-	-	-	LOC391003,PRAMEF22	ENST00000376187,p.S191L|NM_001099850,p.S189L|NM_001100631,p.S191L|uc009vnq.1,p.S191L	protein_coding	uc009vnq.1	nonsynonymous SNV	exon2	c.C572T	p.S191L	SVHLCCTKVVNYSMSILNFRNILET	SVHLCCTKVVNYLMSILNFRNILET	1.0	1.0	unscreened	-	4253_1:13036500-13036500 C>T_SVHLCCTKVVNYLMSILNFRNILET
6:47251767-47251767 C>T	1.0	4253	MELANOMA	-	-	-	-	TNFRSF21	uc003oyv.3,p.D384N|ENST00000296861,p.D384N|NM_014452,p.D384N	protein_coding	uc003oyv.3	nonsynonymous SNV	exon3	c.G1150A	p.D384N	KSSRTLKKGPRQDPSAIVEKAGLKK	KSSRTLKKGPRQNPSAIVEKAGLKK	9.0	4.0	unscreened	-	4253_6:47251767-47251767 C>T_KSSRTLKKGPRQNPSAIVEKAGLKK
1:162337117-162337117 G>A	0.0	4253	MELANOMA	-	-	-	-	NOS1AP	uc009wut.1,p.G166S|NM_001164757,p.G456S|uc001gbw.2,p.G456S|ENST00000361897,p.G461S|NM_001126060,p.G166S|ENST00000493151,p.G166S|ENST00000530878,p.G456S|NM_014697,p.G461S|uc001gbv.2,p.G461S	protein_coding, processed_transcript, nonsense_mediated_decay	uc009wut.1	nonsynonymous SNV	exon2	c.G496A	p.G166S	LGGLELIKFRESGIASEYESNTDES	LGGLELIKFRESSIASEYESNTDES	5.0	6.0	unscreened	-	4253_1:162337117-162337117 G>A_LGGLELIKFRESSIASEYESNTDES
14:23346589-23346589 C>A	1.0	4253	MELANOMA	-	-	-	-	LRP10	uc001whd.3,p.S665R|ENST00000359591,p.S665R|NM_014045,p.S665R	retained_intron, protein_coding, processed_transcript	uc001whd.3	nonsynonymous SNV	exon7	c.C1995A	p.S665R	GVVQALRGRLLPSLGPPGPTRSPPG	GVVQALRGRLLPRLGPPGPTRSPPG	8.0	3.0	unscreened	-	4253_14:23346589-23346589 C>A_GVVQALRGRLLPRLGPPGPTRSPPG
12:46601380-46601380 C>T	0.0	4253	MELANOMA	-	-	-	-	SLC38A1	ENST00000552197,p.G138E|uc009zkj.1,p.G138E|ENST00000546893,p.G138E|ENST00000439706,p.G138E|NM_001278389,p.G138E|NM_001278387,p.G138E|NM_001077484,p.G138E|NM_001278388,p.G138E|uc010slh.2,p.G111E|NM_001278390,p.G138E|ENST00000398637,p.G138E|uc001rpb.3,p.G138E|ENST00000549049,p.G138E|uc001rpd.3,p.G138E|uc001rpc.3,p.G138E|uc001rpe.3,p.G138E|uc001rpa.3,p.G138E|NM_030674,p.G138E	retained_intron, protein_coding, processed_transcript	uc010slh.2	nonsynonymous SNV	exon5	c.G332A	p.G111E	SKETGCMVYEKLGEQVFGTTGKFVI	SKETGCMVYEKLEEQVFGTTGKFVI	5.0	8.0	unscreened	-	4253_12:46601380-46601380 C>T_SKETGCMVYEKLEEQVFGTTGKFVI
17:5462554-5462554 C>T	0.0	4253	MELANOMA	-	-	-	-	NLRP1	uc002gcg.1,p.E488K|ENST00000345221,p.E488K|NM_033007,p.E488K|NM_033006,p.E488K|NM_033004,p.E488K|uc002gck.3,p.E488K|ENST00000269280,p.E488K|uc002gci.3,p.E488K|uc002gcl.3,p.E488K|uc010clh.3,p.E488K|uc002gcj.3,p.E488K|NM_001033053,p.E488K|ENST00000544378,p.E488K|NM_014922,p.E488K|ENST00000262467,p.E488K|ENST00000571451,p.E488K|ENST00000354411,p.E488K|ENST00000577119,p.E488K|uc002gch.4,p.E488K|ENST00000572272,p.E488K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010clh.3	nonsynonymous SNV	exon5	c.G1462A	p.E488K	VEVLGFSESSRKEYFYRYFTDERQA	VEVLGFSESSRKKYFYRYFTDERQA	9.0	7.0	-	-	4253_17:5462554-5462554 C>T_VEVLGFSESSRKKYFYRYFTDERQA
18:47438512-47438512 G>A	0.0	4253	MELANOMA	0.0005	-	-	-	MYO5B	uc002leb.2,p.R708W|NM_001080467,p.R708W|ENST00000285039,p.R708W	retained_intron, protein_coding, processed_transcript	uc002leb.2	nonsynonymous SNV	exon18	c.C2122T	p.R708W	SRWAYHDFFNRYRVLVKKRELANTD	SRWAYHDFFNRYWVLVKKRELANTD	8.0	9.0	unscreened	-	4253_18:47438512-47438512 G>A_SRWAYHDFFNRYWVLVKKRELANTD
19:36361899-36361899 C>T	0.0	4253	MELANOMA	-	-	-	-	APLP1	ENST00000590561,p.P104L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000590561	nonsynonymous SNV	exon3	c.C311T	p.P104L	GAGVPGAAAAPTPTTRLCPSAACLV	GAGVPGAAAAPTLTTRLCPSAACLV	9.0	3.0	unscreened	-	4253_19:36361899-36361899 C>T_GAGVPGAAAAPTLTTRLCPSAACLV
19:50099561-50099561 G>A	1.0	4253	MELANOMA	-	-	-	-	PRR12	NM_020719,p.G657R|ENST00000418929,p.G657R|uc002poo.4,p.G657R	retained_intron, protein_coding	uc002poo.4	nonsynonymous SNV	exon4	c.G1969A	p.G657R	HLLQAPSPPRTSGADGLVGEDGAAD	HLLQAPSPPRTSRADGLVGEDGAAD	6.0	1.0	unscreened	-	4253_19:50099561-50099561 G>A_HLLQAPSPPRTSRADGLVGEDGAAD
16:30779620-30779620 T>G	1.0	4253	MELANOMA	-	-	-	-	RNF40	NM_001207033,p.V583G|uc010caa.3,p.V583G|uc010vfb.2,p.V275G|uc010cab.3,p.V483G|NM_001286572,p.V583G|uc002dzq.3,p.V583G|NM_001207034,p.V483G|ENST00000563683,p.V543G|ENST00000324685,p.V583G|ENST00000357890,p.V483G|NM_014771,p.V583G|uc002dzr.3,p.V583G|ENST00000402121,p.V275G	retained_intron, protein_coding, processed_transcript	uc010vfb.2	nonsynonymous SNV	exon7	c.T824G	p.V275G	TTTTTSVKKEELVPSEEDFQGITPG	TTTTTSVKKEELGPSEEDFQGITPG	9.0	6.0	unscreened	-	4253_16:30779620-30779620 T>G_TTTTTSVKKEELGPSEEDFQGITPG
19:9069279-9069279 G>A	0.0	4253	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.S6056L|ENST00000397910,p.S6056L|NM_024690,p.S6056L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C18167T	p.S6056L	TGSMMEDAIVSTSTPGSPETKNVDR	TGSMMEDAIVSTLTPGSPETKNVDR	2.0	10.0	unscreened	-	4253_19:9069279-9069279 G>A_TGSMMEDAIVSTLTPGSPETKNVDR
5:140732195-140732195 G>A	1.0	4253	MELANOMA	-	-	-	-	PCDHGB1	NM_032095,p.E790K|uc003ljo.2,p.E790K|NM_018922,p.E790K|ENST00000523390,p.E790K|uc011daq.2,p.E790K	protein_coding	uc011daq.2	nonsynonymous SNV	exon1	c.G2368A	p.E790K	CDDPSMVVCASNEDHKIAYDPSLSS	CDDPSMVVCASNKDHKIAYDPSLSS	7.0	7.0	unscreened	-	4253_5:140732195-140732195 G>A_CDDPSMVVCASNKDHKIAYDPSLSS
12:4651073-4651073 C>T	1.0	4253	MELANOMA	-	-	-	-	RAD51AP1	NM_001130862,p.S14L|ENST00000228843,p.S14L|uc001qmw.3,p.S14L|ENST00000544927,p.S14L|ENST00000536886,p.S14L|ENST00000321524,p.S14L|uc001qmu.3,p.S14L|ENST00000398012,p.S14L|NM_006479,p.S14L|ENST00000538817,p.S14L|ENST00000352618,p.S14L|ENST00000535558,p.S14L|ENST00000544110,p.S14L|ENST00000536346,p.S14L|ENST00000442992,p.S14L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qmw.3	nonsynonymous SNV	exon2	c.C41T	p.S14L	VRPVRHKKPVNYSQFDHSDSDDDFV	VRPVRHKKPVNYLQFDHSDSDDDFV	9.0	3.0	-	-	4253_12:4651073-4651073 C>T_VRPVRHKKPVNYLQFDHSDSDDDFV
11:130339290-130339290 G>A	1.0	4253	MELANOMA	-	-	-	-	ADAMTS15	uc010scd.2,p.R559K|ENST00000299164,p.R559K|NM_139055,p.R559K	protein_coding	uc010scd.2	nonsynonymous SNV	exon5	c.G1676A	p.R559K	TPANGGKYCEGVRVKYRSCNLEPCP	TPANGGKYCEGVKVKYRSCNLEPCP	6.0	7.0	unscreened	-	4253_11:130339290-130339290 G>A_TPANGGKYCEGVKVKYRSCNLEPCP
18:21399949-21399949 G>A	0.0	4253	MELANOMA	-	-	-	-	LAMA3	ENST00000313654,p.M764I|ENST00000399516,p.M764I|uc002kur.3,p.M764I|NM_198129,p.M764I|uc002kuq.3,p.M764I|NM_001127717,p.M764I	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc002kur.3	nonsynonymous SNV	exon19	c.G2292A	p.M764I	AFPEFSWRGYAQMTSVQNDVRITLN	AFPEFSWRGYAQITSVQNDVRITLN	6.0	5.0	unscreened	-	4253_18:21399949-21399949 G>A_AFPEFSWRGYAQITSVQNDVRITLN
X:34962500-34962500 G>A	0.0	4253	MELANOMA	-	-	ID=COSM3736695;OCCURENCE=1(skin)	-	FAM47B	NM_152631,p.D518N|ENST00000329357,p.D518N|uc004ddi.2,p.D518N	protein_coding	uc004ddi.2	nonsynonymous SNV	exon1	c.G1552A	p.D518N	SRLMYGMELDDMDEVEFLRIKYWDR	SRLMYGMELDDMNEVEFLRIKYWDR	1.0	10.0	unscreened	-	4253_X:34962500-34962500 G>A_SRLMYGMELDDMNEVEFLRIKYWDR
7:81335633-81335633 C>T	0.0	4253	MELANOMA	-	-	-	-	HGF	NM_001010932,p.G571E|uc003uhl.3,p.G576E|ENST00000222390,p.G576E|ENST00000457544,p.G571E|NM_000601,p.G576E|uc003uhm.3,p.G571E	retained_intron, protein_coding	uc003uhm.3	nonsynonymous SNV	exon15	c.G1712A	p.G571E	VLNVSQLVYGPEGSDLVLMKLARPA	VLNVSQLVYGPEESDLVLMKLARPA	6.0	4.0	unscreened	-	4253_7:81335633-81335633 C>T_VLNVSQLVYGPEESDLVLMKLARPA
1:57499236-57499236 G>A	0.0	4253	MELANOMA	-	-	-	-	DAB1	uc001cyr.1,p.S126L|uc009vzw.1,p.S210L|ENST00000439789,p.S126L|ENST00000371231,p.S245L|ENST00000371232,p.S126L|uc001cyq.1,p.S210L|ENST00000420954,p.S210L|ENST00000414851,p.S210L	protein_coding, processed_transcript	uc009vzw.1	nonsynonymous SNV	exon8	c.C629T	p.S210L	DVPKSQPVSNGYSFEDFEERFAAAT	DVPKSQPVSNGYLFEDFEERFAAAT	1.0	5.0	unscreened	-	4253_1:57499236-57499236 G>A_DVPKSQPVSNGYLFEDFEERFAAAT
3:119428714-119428714 C>T	0.0	4253	MELANOMA	-	-	-	-	MAATS1	NM_033364,p.P158S|ENST00000273390,p.P158S|uc010hqz.3,p.P96S|uc011bjd.2,p.P32S|uc010hqy.2,p.P158S|uc003edc.2,p.P158S|uc011bje.2,p.P138S|ENST00000463700,p.P158S|uc003ede.4,p.P158S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bje.2	nonsynonymous SNV	exon5	c.C412T	p.P138S	FERPFLPFFQQMPFNVVYAVSKAEP	FERPFLPFFQQMSFNVVYAVSKAEP	4.0	1.0	unscreened	-	4253_3:119428714-119428714 C>T_FERPFLPFFQQMSFNVVYAVSKAEP
1:210329118-210329118 C>T	1.0	4253	MELANOMA	-	-	-	-	SYT14	uc010pso.3,p.S368F|NM_001256006,p.S368F|ENST00000472886,p.S406F|ENST00000367015,p.S368F|NM_153262,p.S406F|uc001hht.5,p.S406F|ENST00000537238,p.S368F|ENST00000367019,p.S406F|uc010psn.3,p.S451F|uc009xcv.4,p.S406F|NM_001146264,p.S451F|uc001hhs.5,p.S451F|ENST00000422431,p.S451F|NM_001146262,p.S406F|ENST00000399639,p.S406F|ENST00000534859,p.S406F|NM_001146261,p.S451F	protein_coding, processed_transcript	uc010pso.3	nonsynonymous SNV	exon8	c.C1103T	p.S368F	MSVSEMSCSESTSSCQSLEHGSVPE	MSVSEMSCSESTFSCQSLEHGSVPE	4.0	8.0	unscreened	-	4253_1:210329118-210329118 C>T_MSVSEMSCSESTFSCQSLEHGSVPE
17:6940088-6940088 C>T	1.0	4253	MELANOMA	-	-	-	-	SLC16A13	ENST00000308027,p.P81L|uc002geh.3,p.P81L|NM_201566,p.P81L	retained_intron, protein_coding	uc002geh.3	nonsynonymous SNV	exon2	c.C242T	p.P81L	VGSALSTKFGPRPVVMTGGILAALG	VGSALSTKFGPRLVVMTGGILAALG	5.0	6.0	unscreened	-	4253_17:6940088-6940088 C>T_VGSALSTKFGPRLVVMTGGILAALG
8:89068431-89068431 C>T	1.0	4253	MELANOMA	-	-	-	-	MMP16	NM_005941,p.G433E|ENST00000286614,p.G433E|uc003yeb.4,p.G433E	retained_intron, protein_coding, processed_transcript	uc003yeb.4	nonsynonymous SNV	exon8	c.G1298A	p.G433E	PGYPHDLITLGSGIPPHGIDSAIWW	PGYPHDLITLGSEIPPHGIDSAIWW	7.0	4.0	unscreened	-	4253_8:89068431-89068431 C>T_PGYPHDLITLGSEIPPHGIDSAIWW
16:31539830-31539830 G>A	0.0	4253	MELANOMA	-	-	-	-	AHSP	ENST00000564707,p.D43N|NM_016633,p.D43N|ENST00000302312,p.D43N|uc002ecj.3,p.D43N	protein_coding, processed_transcript	uc002ecj.3	nonsynonymous SNV	exon3	c.G127A	p.D43N	LVSEEDMVTVVEDWMNFYINYYRQQ	LVSEEDMVTVVENWMNFYINYYRQQ	3.0	7.0	unscreened	-	4253_16:31539830-31539830 G>A_LVSEEDMVTVVENWMNFYINYYRQQ
10:96745809-96745809 C>T	0.0	4253	MELANOMA	-	-	-	-	CYP2C9	NM_000771,p.S390F|ENST00000260682,p.S390F|uc009xut.3,p.S388F|uc001kka.4,p.S390F	protein_coding, processed_transcript	uc009xut.3	nonsynonymous SNV	exon8	c.C1163T	p.S388F	NYLIPKGTTILISLTSVLHDNKEFP	NYLIPKGTTILIFLTSVLHDNKEFP	3.0	10.0	unscreened	-	4253_10:96745809-96745809 C>T_NYLIPKGTTILIFLTSVLHDNKEFP
5:74100987-74100987 T>C	1.0	4253	MELANOMA	-	-	-	-	FAM169A	uc010izm.3,p.I205V|uc003kdm.4,p.I265V|NM_015566,p.I265V|ENST00000389156,p.I265V|uc003kdl.4,p.I83V|ENST00000510496,p.I205V	protein_coding, nonsense_mediated_decay	uc010izm.3	nonsynonymous SNV	exon7	c.A613G	p.I205V	PVTRALQREALKILALSQNEPKRPM	PVTRALQREALKVLALSQNEPKRPM	5.0	6.0	unscreened	-	4253_5:74100987-74100987 T>C_PVTRALQREALKVLALSQNEPKRPM
13:28608305-28608305 G>A	0.0	4253	MELANOMA	-	-	-	1	FLT3	uc001urw.3,p.S584F|ENST00000537084,p.S584F|ENST00000380982,p.S584F|ENST00000380987,p.S584F|NM_004119,p.S584F|uc010tdn.2,p.S584F|ENST00000241453,p.S584F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdn.2	nonsynonymous SNV	exon14	c.C1751T	p.S584F	YESQLQMVQVTGSSDNEYFYVDFRE	YESQLQMVQVTGFSDNEYFYVDFRE	2.0	2.0	unscreened	-	4253_13:28608305-28608305 G>A_YESQLQMVQVTGFSDNEYFYVDFRE
2:179611933-179611933 G>A	0.0	4253	MELANOMA	-	-	-	-	TTN	uc002unb.3,p.P5065L|ENST00000360870,p.P5065L|NM_133379,p.P5065L	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.C15194T	p.P5065L	TPPGETLERYSTPPGETLERYSTPP	TPPGETLERYSTLPGETLERYSTPP	5.0	7.0	unscreened	-	4253_2:179611933-179611933 G>A_TPPGETLERYSTLPGETLERYSTPP
5:118506547-118506547 G>A	0.0	4253	MELANOMA	-	-	-	-	DMXL1	uc021ycw.1,p.E1848K|ENST00000311085,p.E2021K|ENST00000539542,p.E2021K|uc010jcl.1,p.E2021K|NM_001290321,p.E2021K|uc003ksd.2,p.E2021K|NM_005509,p.E2021K|NM_001290322,p.E1848K	retained_intron, protein_coding, processed_transcript	uc021ycw.1	nonsynonymous SNV	exon24	c.G5542A	p.E1848K	STLDENDLLNPSEDIIAVQLKFRAC	STLDENDLLNPSKDIIAVQLKFRAC	8.0	5.0	unscreened	-	4253_5:118506547-118506547 G>A_STLDENDLLNPSKDIIAVQLKFRAC
8:23054699-23054699 C>T	1.0	4253	MELANOMA	-	-	-	-	TNFRSF10A	ENST00000221132,p.G345R|uc003xda.3,p.G345R|NM_003844,p.G345R	retained_intron, protein_coding	uc003xda.3	nonsynonymous SNV	exon9	c.G1033A	p.G345R	EAQCLLGPAEAEGSQRRRLLVPANG	EAQCLLGPAEAERSQRRRLLVPANG	6.0	7.0	unscreened	-	4253_8:23054699-23054699 C>T_EAQCLLGPAEAERSQRRRLLVPANG
19:56600204-56600204 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1681394;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	ZNF787	NM_001002836,p.R113W|uc010eth.1,p.R113W|ENST00000270459,p.R113W	protein_coding	uc010eth.1	nonsynonymous SNV	exon3	c.C337T	p.R113W	KTFSQSSHLVQHRRIHTGEKPYACL	KTFSQSSHLVQHWRIHTGEKPYACL	8.0	8.0	unscreened	-	4253_19:56600204-56600204 G>A_KTFSQSSHLVQHWRIHTGEKPYACL
8:3038676-3038676 G>A	0.0	4253	MELANOMA	-	-	-	-	CSMD1	ENST00000537824,p.S1894F|ENST00000602723,p.S1895F|NM_033225,p.S1894F|ENST00000602557,p.S1895F|ENST00000400186,p.S1895F|ENST00000539096,p.S1894F|uc003wqe.3,p.S1051F|uc022aqr.1,p.S1894F|ENST00000520002,p.S1895F|ENST00000542608,p.S1894F|uc011kwj.2,p.S1287F	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon37	c.C5681T	p.S1894F	NSTSNQLYLHFQSDISVAAAGFHLE	NSTSNQLYLHFQFDISVAAAGFHLE	2.0	7.0	unscreened	-	4253_8:3038676-3038676 G>A_NSTSNQLYLHFQFDISVAAAGFHLE
1:109365968-109365968 G>A	1.0	4253	MELANOMA	-	-	-	-	AKNAD1	ENST00000357393,p.P438S|uc010ovb.3,p.P438S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ovb.3	nonsynonymous SNV	exon12	c.C1312T	p.P438S	NSSPCKYISCMTPSISTT	NSSPCKYISCMTSSISTT	6.0	8.0	unscreened	-	4253_1:109365968-109365968 G>A_NSSPCKYISCMTSSISTT
4:126370212-126370212 A>T	0.0	4253	MELANOMA	-	-	-	1	FAT4	NM_001291303,p.N2683Y|uc003ifi.1,p.N159Y|NM_001291285,p.N2683Y|ENST00000335110,p.N979Y|NM_024582,p.N2681Y|uc003ifj.4,p.N2681Y|ENST00000394329,p.N2681Y|uc011cgp.2,p.N979Y	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.A2935T	p.N979Y	FKEDPFISEILENLSPRKILTVSAM	FKEDPFISEILEYLSPRKILTVSAM	4.0	5.0	unscreened	-	4253_4:126370212-126370212 A>T_FKEDPFISEILEYLSPRKILTVSAM
2:207041662-207041662 G>A	0.0	4253	MELANOMA	-	-	-	-	GPR1	ENST00000407325,p.P104S|ENST00000437420,p.P104S|NM_001261454,p.P104S|NM_001098199,p.P104S|ENST00000447845,p.P104S|NM_005279,p.P104S|ENST00000442134,p.P104S|NM_001261453,p.P104S|NM_001261452,p.P104S|uc021vvl.1,p.P104S|uc010fuf.3,p.P104S|uc031rqu.1,p.P104S|uc002vbl.4,p.P104S|NM_001261455,p.P104S|ENST00000451790,p.P104S|uc031rqw.1,p.P104S|uc031rqv.1,p.P104S|uc010fue.3,p.P104S	protein_coding	uc031rqw.1	nonsynonymous SNV	exon4	c.C310T	p.P104S	LYISYVAMNFHWPFGIWLCKANSFT	LYISYVAMNFHWSFGIWLCKANSFT	3.0	1.0	unscreened	-	4253_2:207041662-207041662 G>A_LYISYVAMNFHWSFGIWLCKANSFT
6:32012927-32012927 C>T	0.0	4253	MELANOMA	-	-	-	-	TNXB	uc003nzg.1,p.G24R|NM_032470,p.G24R|ENST00000451343,p.G24R|uc003nzh.1,p.G62R|ENST00000375244,p.G3595R|ENST00000375247,p.G3593R|NM_019105,p.G3593R|uc003nzl.2,p.G3593R	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon32	c.G10777A	p.G3593R	FDSFVVQYEDTNGQPQALLVDGDQS	FDSFVVQYEDTNRQPQALLVDGDQS	7.0	3.0	unscreened	-	4253_6:32012927-32012927 C>T_FDSFVVQYEDTNRQPQALLVDGDQS
9:38543312-38543312 C>T	0.0	4253	MELANOMA	-	-	-	-	FAM95C	uc010mmd.1,p.E198K|ENST00000566717,p.E203K|ENST00000313339,p.E186K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010mmd.1	nonsynonymous SNV	exon7	c.G592A	p.E198K	RPGGVRSPGLQLEGTSTLQWEQGPI	RPGGVRSPGLQLKGTSTLQWEQGPI	8.0	10.0	unscreened	-	4253_9:38543312-38543312 C>T_RPGGVRSPGLQLKGTSTLQWEQGPI
15:40915437-40915437 C>G	0.0	4253	MELANOMA	-	-	-	1	CASC5	uc010bbt.1,p.P992R|ENST00000399668,p.P992R|uc010bbs.1,p.P1018R|ENST00000346991,p.P1018R|uc001zme.3,p.P992R|NM_170589,p.P1018R|uc010ucq.1,p.P842R|NM_144508,p.P992R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ucq.1	nonsynonymous SNV	exon9	c.C2525G	p.P842R	RKSLGTPTVICTPTEESVFFPGNGE	RKSLGTPTVICTRTEESVFFPGNGE	7.0	2.0	unscreened	-	4253_15:40915437-40915437 C>G_RKSLGTPTVICTRTEESVFFPGNGE
12:113874597-113874597 C>-	0.0	4253	MELANOMA	-	-	-	-	SDSL	ENST00000345635,p.A238fs|uc001tvi.3,p.A238fs|NM_138432,p.A238fs|ENST00000551760,p.A31fs|ENST00000403593,p.A238fs|uc009zwh.3,p.A238fs	protein_coding	uc009zwh.3	frameshift deletion	exon7	c.713delC	p.A238fs	AKSLGAKTVAARALECMQVCKIHSE	AKSLGAKTVAARAWSACRCARFTLKWWRTPRL	9.0	1.0	unscreened	-	4253_12:113874597-113874597 C>-_AKSLGAKTVAARAWSACRCARFTLKWWRTPRL
4:129120736-129120736 C>T	1.0	4253	MELANOMA	0.0005	-	-	-	LARP1B	NM_018078,p.R716C|ENST00000326639,p.R716C|ENST00000441387,p.R716C|ENST00000354456,p.R135C|uc003iga.3,p.R716C|ENST00000264584,p.R657C|uc003igc.3,p.R135C	protein_coding, processed_transcript, nonsense_mediated_decay	uc003igc.3	nonsynonymous SNV	exon4	c.C403T	p.R135C	ENGFTQQVYHKYRRRCLSERKRLGI	ENGFTQQVYHKYCRRCLSERKRLGI	9.0	6.0	unscreened	-	4253_4:129120736-129120736 C>T_ENGFTQQVYHKYCRRCLSERKRLGI
12:129189675-129189675 C>T	0.0	4253	MELANOMA	-	-	-	-	TMEM132C	ENST00000315208,p.S337F|uc021rgn.1,p.S721F|ENST00000537538,p.S106F|NM_001136103,p.S721F|ENST00000435159,p.S721F	protein_coding	uc021rgn.1	nonsynonymous SNV	exon9	c.C2162T	p.S721F	AVFSTWLQFSDGSVTPLDIYDTKDF	AVFSTWLQFSDGFVTPLDIYDTKDF	1.0	6.0	unscreened	-	4253_12:129189675-129189675 C>T_AVFSTWLQFSDGFVTPLDIYDTKDF
3:44346790-44346790 C>T	0.0	4253	MELANOMA	-	-	-	-	TOPAZ1	uc003cna.4,p.P1339L|NM_001145030,p.P1339L|ENST00000309765,p.P1339L	protein_coding	uc003cna.4	nonsynonymous SNV	exon14	c.C4016T	p.P1339L	LTKNYEDERPDIPFCEFAETVSKDP	LTKNYEDERPDILFCEFAETVSKDP	1.0	9.0	unscreened	-	4253_3:44346790-44346790 C>T_LTKNYEDERPDILFCEFAETVSKDP
4:155256256-155256256 C>T	0.0	4253	MELANOMA	-	-	-	-	DCHS2	ENST00000339452,p.G826E|uc003inx.2,p.G826E|NM_001142552,p.G826E	protein_coding, processed_transcript	uc003inx.2	nonsynonymous SNV	exon4	c.G2477A	p.G826E	NVSSLFTIDSTTGIIYLTLPLSHLE	NVSSLFTIDSTTEIIYLTLPLSHLE	2.0	6.0	unscreened	-	4253_4:155256256-155256256 C>T_NVSSLFTIDSTTEIIYLTLPLSHLE
1:248436912-248436912 T>C	0.0	4253	MELANOMA	-	rs201497316	-	-	OR2T33	uc010pzi.2,p.M69V|NM_001004695,p.M69V|ENST00000318021,p.M69V	protein_coding	uc010pzi.2	nonsynonymous SNV	exon1	c.A205G	p.M69V	MYFLLSQLSLMDMMLVSTTVPKMAA	MYFLLSQLSLMDVMLVSTTVPKMAA	2.0	1.0	unscreened	-	4253_1:248436912-248436912 T>C_MYFLLSQLSLMDVMLVSTTVPKMAA
5:76621365-76621365 T>C	0.0	4253	MELANOMA	-	-	-	-	PDE8B	uc003kfd.3,p.V134A|NM_001029852,p.V134A|NM_001029851,p.V134A|NM_001029854,p.V134A|ENST00000340978,p.V134A|uc003kfe.3,p.V134A|ENST00000346042,p.V134A|uc003kfc.3,p.V134A|ENST00000333194,p.V134A|NM_003719,p.V134A|uc003kfa.3,p.V134A|ENST00000264917,p.V134A	protein_coding	uc003kfe.3	nonsynonymous SNV	exon3	c.T401C	p.V134A	IGPMRLTQDPIQVLLIFAKEDSQSD	IGPMRLTQDPIQALLIFAKEDSQSD	6.0	5.0	unscreened	-	4253_5:76621365-76621365 T>C_IGPMRLTQDPIQALLIFAKEDSQSD
1:233514958-233514958 G>A	0.0	4253	MELANOMA	-	-	-	-	KIAA1804	NM_032435,p.G736R|uc001hvt.4,p.G736R|ENST00000366624,p.G736R|uc001hvu.4,p.G182R|ENST00000366622,p.G182R	protein_coding	uc001hvu.4	nonsynonymous SNV	exon3	c.G544A	p.G182R	YGCTVLLASVALGLDLRELHKAQAA	YGCTVLLASVALRLDLRELHKAQAA	4.0	8.0	unscreened	-	4253_1:233514958-233514958 G>A_YGCTVLLASVALRLDLRELHKAQAA
16:16173244-16173244 C>T	0.0	4253	MELANOMA	-	-	-	-	ABCC1	ENST00000399408,p.A675V|uc010bvi.3,p.A675V|uc002del.4,p.A559V|ENST00000351154,p.A675V|ENST00000349029,p.A675V|ENST00000399410,p.A675V|ENST00000346370,p.A675V|ENST00000345148,p.A675V|NM_004996,p.A675V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bvi.3	nonsynonymous SNV	exon16	c.C2024T	p.A675V	GITFSIPEGALVAVVGQVGCGKSSL	GITFSIPEGALVVVVGQVGCGKSSL	7.0	6.0	unscreened	-	4253_16:16173244-16173244 C>T_GITFSIPEGALVVVVGQVGCGKSSL
8:77763460-77763460 C>A	0.0	4253	MELANOMA	-	-	-	-	ZFHX4	ENST00000521891,p.R1435S|ENST00000455469,p.R1390S|uc003yau.2,p.R1435S|uc003yaw.1,p.R1390S|ENST00000518282,p.R1409S|ENST00000050961,p.R1390S|NM_024721,p.R1435S	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon9	c.C4168A	p.R1390S	AATMCNLCQRSFRTFQALKKHLEAG	AATMCNLCQRSFSTFQALKKHLEAG	6.0	7.0	unscreened	-	4253_8:77763460-77763460 C>A_AATMCNLCQRSFSTFQALKKHLEAG
12:101333195-101333195 C>T	0.0	4253	MELANOMA	-	-	-	-	ANO4	ENST00000392977,p.S88L|ENST00000538618,p.S254L|ENST00000549155,p.S88L|NM_178826,p.S53L|uc001thw.2,p.S53L|NM_001286616,p.S88L|uc010svm.1,p.S88L|NM_001286615,p.S88L|uc001thx.2,p.S88L|ENST00000392979,p.S53L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010svm.1	nonsynonymous SNV	exon4	c.C263T	p.S88L	DSLLHPGNLTSTSDDASRLEAGGET	DSLLHPGNLTSTLDDASRLEAGGET	7.0	5.0	unscreened	-	4253_12:101333195-101333195 C>T_DSLLHPGNLTSTLDDASRLEAGGET
12:4881716-4881716 G>A	0.0	4253	MELANOMA	-	-	-	-	GALNT8	NM_017417,p.E623K|uc001qne.1,p.E623K|ENST00000252318,p.E623K	protein_coding, processed_transcript	uc001qne.1	nonsynonymous SNV	exon11	c.G1867A	p.E623K	VLVLQTCSTQVWEIQHTVRDWGQTN	VLVLQTCSTQVWKIQHTVRDWGQTN	6.0	2.0	unscreened	-	4253_12:4881716-4881716 G>A_VLVLQTCSTQVWKIQHTVRDWGQTN
19:40520846-40520846 G>A	0.0	4253	MELANOMA	-	-	-	-	ZNF546	uc002oms.2,p.E557K|ENST00000347077,p.E557K|NM_001297763,p.E531K|NM_178544,p.E557K|uc002omt.2,p.E531K|ENST00000600094,p.E531K	retained_intron, protein_coding, processed_transcript	uc002omt.2	nonsynonymous SNV	exon7	c.G1591A	p.E531K	RIHTCEKPYECKECGKAFIHSNQFI	RIHTCEKPYECKKCGKAFIHSNQFI	7.0	3.0	unscreened	-	4253_19:40520846-40520846 G>A_RIHTCEKPYECKKCGKAFIHSNQFI
14:94716540-94716540 G>A	0.0	4253	MELANOMA	-	-	ID=COSM107150;OCCURENCE=1(skin),1(large_intestine)	-	PPP4R4	ENST00000304338,p.R548Q|uc001ycs.1,p.R548Q|NM_058237,p.R548Q	protein_coding, processed_transcript	uc001ycs.1	nonsynonymous SNV	exon15	c.G1643A	p.R548Q	TNNVLPVQKAASRTLCIFLRYNRKQ	TNNVLPVQKAASQTLCIFLRYNRKQ	2.0	9.0	unscreened	-	4253_14:94716540-94716540 G>A_TNNVLPVQKAASQTLCIFLRYNRKQ
22:37260122-37260122 C>T	0.0	4253	MELANOMA	-	-	-	-	NCF4	ENST00000397147,p.S23L|NM_013416,p.S23L|uc003apy.4,p.S23L|ENST00000248899,p.S23L|uc003apz.4,p.S23L|NM_000631,p.S23L	protein_coding	uc003apz.4	nonsynonymous SNV	exon2	c.C68T	p.S23L	SDFEQLPDDVAISANIADIEEKRGF	SDFEQLPDDVAILANIADIEEKRGF	9.0	10.0	unscreened	-	4253_22:37260122-37260122 C>T_SDFEQLPDDVAILANIADIEEKRGF
19:12461072-12461072 G>A	0.0	4253	MELANOMA	0.04	rs10500210	ID=COSM1390563;OCCURENCE=1(large_intestine)	-	ZNF442	NM_030824,p.R443C|uc010xmk.1,p.R374C|ENST00000242804,p.R443C|uc002mtr.1,p.R443C|ENST00000438182,p.R374C	retained_intron, protein_coding	uc010xmk.1	nonsynonymous SNV	exon3	c.C1120T	p.R374C	KPYECKECGKAFRISSSLRRHETTH	KPYECKECGKAFCISSSLRRHETTH	5.0	1.0	unscreened	-	4253_19:12461072-12461072 G>A_KPYECKECGKAFCISSSLRRHETTH
3:172224329-172224329 C>T	0.0	4253	MELANOMA	-	-	-	-	TNFSF10	ENST00000241261,p.D267N|NM_003810,p.D267N|uc003fid.3,p.D267N	retained_intron, protein_coding, nonsense_mediated_decay	uc003fid.3	nonsynonymous SNV	exon5	c.G799A	p.D267N	RIFVSVTNEHLIDMDHEASFFGAFL	RIFVSVTNEHLINMDHEASFFGAFL	8.0	7.0	-	-	4253_3:172224329-172224329 C>T_RIFVSVTNEHLINMDHEASFFGAFL
9:106894390-106894390 A>T	0.0	4253	MELANOMA	-	-	-	-	SMC2	uc011lvl.2,p.N1031I|ENST00000303219,p.N1031I|ENST00000374793,p.N1031I|NM_001042550,p.N1031I|ENST00000493955,p.N98I|NM_006444,p.N1031I|ENST00000286398,p.N1031I|NM_001265602,p.N1031I|uc004bbx.3,p.N1031I|NM_001042551,p.N1031I|uc004bbv.3,p.N1031I|uc004bbw.3,p.N1031I|ENST00000374787,p.N1031I	protein_coding, nonsense_mediated_decay	uc011lvl.2	nonsynonymous SNV	exon22	c.A3092T	p.N1031I	IEDLDQKKNQALNIAWQKVNKDFGS	IEDLDQKKNQALIIAWQKVNKDFGS	9.0	1.0	unscreened	-	4253_9:106894390-106894390 A>T_IEDLDQKKNQALIIAWQKVNKDFGS
11:4825310-4825310 G>A	0.0	4253	MELANOMA	-	-	-	-	OR52R1	NM_001005177,p.L101F|ENST00000380382,p.L180F|uc021qcs.1,p.L101F|ENST00000356069,p.L101F	protein_coding	uc021qcs.1	nonsynonymous SNV	exon1	c.C301T	p.L101F	WFHAHEIQYHACLIQVFFIHAFSSV	WFHAHEIQYHACFIQVFFIHAFSSV	1.0	3.0	unscreened	-	4253_11:4825310-4825310 G>A_WFHAHEIQYHACFIQVFFIHAFSSV
12:79611333-79611333 G>A	0.0	4253	MELANOMA	-	-	-	-	SYT1	ENST00000261205,p.A12T|uc001sys.3,p.A12T|uc001syv.3,p.A12T|ENST00000552744,p.A12T|uc001syu.3,p.A12T|ENST00000552624,p.A12T|ENST00000552074,p.A12T|ENST00000551304,p.A12T|ENST00000393240,p.A12T|ENST00000446242,p.A12T|NM_001291901,p.A12T|ENST00000549671,p.A12T|ENST00000547046,p.A12T|ENST00000457153,p.A12T|uc001syt.3,p.A12T|NM_001135806,p.A12T|NM_001135805,p.A12T|NM_005639,p.A12T	protein_coding, processed_transcript	uc001syv.3	nonsynonymous SNV	exon3	c.G34A	p.A12T	MVSESHHEALAAPPVTTVATVLPS	MVSESHHEALATPPVTTVATVLPS	5.0	1.0	unscreened	-	4253_12:79611333-79611333 G>A_MVSESHHEALATPPVTTVATVLPS
12:40820351-40820351 C>T	0.0	4253	MELANOMA	-	-	-	-	MUC19	ENST00000425730,p.S110F	retained_intron, protein_coding, processed_transcript	ENST00000425730	nonsynonymous SNV	exon11	c.C329T	p.S110F	DKTSTCDTYSELSRLCASDGPGTFE	DKTSTCDTYSELFRLCASDGPGTFE	5.0	2.0	unscreened	-	4253_12:40820351-40820351 C>T_DKTSTCDTYSELFRLCASDGPGTFE
X:71864254-71864254 C>T	0.0	4253	MELANOMA	-	-	-	-	PHKA1	NM_002637,p.V473I|NM_001172436,p.V473I|uc004eax.4,p.V473I|NM_001122670,p.V473I|ENST00000541944,p.V473I|ENST00000373542,p.V473I|uc011mqi.2,p.V473I|ENST00000339490,p.V473I|ENST00000373539,p.V473I|uc004eay.4,p.V473I|ENST00000373545,p.V473I	protein_coding	uc011mqi.2	nonsynonymous SNV	exon14	c.G1417A	p.V473I	YVETIAEVYPIRVQPARILSHIYSS	YVETIAEVYPIRIQPARILSHIYSS	5.0	10.0	unscreened	-	4253_X:71864254-71864254 C>T_YVETIAEVYPIRIQPARILSHIYSS
4:6303939-6303939 C>G	1.0	4253	MELANOMA	-	-	-	-	WFS1	uc003giy.3,p.A806G|NM_006005,p.A806G|ENST00000226760,p.A806G|uc003giz.3,p.A624G|uc003gix.3,p.A806G|NM_001145853,p.A806G|ENST00000503569,p.A806G	retained_intron, protein_coding	uc003giz.3	nonsynonymous SNV	exon5	c.C1871G	p.A624G	EEDDVTKDIVLRASSEFKSVLLSLR	EEDDVTKDIVLRGSSEFKSVLLSLR	8.0	9.0	unscreened	-	4253_4:6303939-6303939 C>G_EEDDVTKDIVLRGSSEFKSVLLSLR
3:36526499-36526499 C>T	0.0	4253	MELANOMA	-	-	-	-	STAC	uc003cgh.1,p.P174S|ENST00000273183,p.P174S|NM_003149,p.P174S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cgh.1	nonsynonymous SNV	exon4	c.C520T	p.P174S	KLPKGFRRYYSSPLLIHEQFGCIKE	KLPKGFRRYYSSSLLIHEQFGCIKE	5.0	1.0	unscreened	-	4253_3:36526499-36526499 C>T_KLPKGFRRYYSSSLLIHEQFGCIKE
5:77511985-77511985 C>T	1.0	4253	MELANOMA	-	-	ID=COSM1438700;OCCURENCE=1(large_intestine),1(breast)	-	AP3B1	NM_001271769,p.R178H|NM_003664,p.R227H|uc031skl.1,p.R178H|ENST00000255194,p.R227H|uc003kfj.4,p.R227H|ENST00000519295,p.R178H	retained_intron, protein_coding, processed_transcript	uc031skl.1	nonsynonymous SNV	exon7	c.G533A	p.R178H	CPDRIDLIHKNYRKLCNLLVDVEEW	CPDRIDLIHKNYHKLCNLLVDVEEW	9.0	7.0	unscreened	-	4253_5:77511985-77511985 C>T_CPDRIDLIHKNYHKLCNLLVDVEEW
X:135428216-135428216 C>T	0.0	4253	MELANOMA	-	-	-	-	GPR112	uc004ezu.1,p.P784L|ENST00000394143,p.P784L|ENST00000287534,p.P721L|ENST00000370652,p.P784L|uc010nsc.1,p.P551L|ENST00000412101,p.P579L|NM_153834,p.P784L|uc010nsb.1,p.P579L|ENST00000394141,p.P579L	protein_coding	uc010nsc.1	nonsynonymous SNV	exon1	c.C1652T	p.P551L	NELPLTPRETVVPSVDIISTLACIQ	NELPLTPRETVVLSVDIISTLACIQ	1.0	10.0	unscreened	-	4253_X:135428216-135428216 C>T_NELPLTPRETVVLSVDIISTLACIQ
17:10544435-10544435 G>A	0.0	4253	MELANOMA	-	-	-	-	MYH3	ENST00000226209,p.P711L|NM_002470,p.P711L|uc002gmq.2,p.P711L|ENST00000583535,p.P711L	retained_intron, protein_coding	uc002gmq.2	nonsynonymous SNV	exon19	c.C2132T	p.P711L	VLEGIRICRKGFPNRILYGDFKQRY	VLEGIRICRKGFLNRILYGDFKQRY	7.0	4.0	unscreened	-	4253_17:10544435-10544435 G>A_VLEGIRICRKGFLNRILYGDFKQRY
7:27140395-27140395 A>C	0.0	4253	MELANOMA	-	-	-	-	HOXA2	NM_006735,p.F361V|uc003syh.3,p.F361V|ENST00000222718,p.F361V	protein_coding	uc003syh.3	nonsynonymous SNV	exon2	c.T1081G	p.F361V	DSPVDISADSLDFFTDTLTTIDLQH	DSPVDISADSLDVFTDTLTTIDLQH	5.0	1.0	unscreened	-	4253_7:27140395-27140395 A>C_DSPVDISADSLDVFTDTLTTIDLQH
11:55944259-55944259 C>T	0.0	4253	MELANOMA	-	-	-	-	OR5J2	NM_001005492,p.H56Y|uc010rjb.2,p.H56Y|ENST00000312298,p.H56Y	protein_coding	uc010rjb.2	nonsynonymous SNV	exon1	c.C166T	p.H56Y	GMILLIQITSKLHTPMYFLLSCLSF	GMILLIQITSKLYTPMYFLLSCLSF	1.0	2.0	unscreened	-	4253_11:55944259-55944259 C>T_GMILLIQITSKLYTPMYFLLSCLSF
19:58596107-58596107 G>A	1.0	4253	MELANOMA	-	-	-	-	ZSCAN18	ENST00000421612,p.P357L|NM_001145543,p.P493L|uc010yht.1,p.P549L|uc002qrj.3,p.P492L|NM_001145542,p.P549L|ENST00000600404,p.P549L|uc002qrh.2,p.P493L|ENST00000240727,p.P493L|ENST00000601144,p.P493L|ENST00000433686,p.P390L|uc010yhs.1,p.P357L|NM_023926,p.P493L|NM_001145544,p.P357L|uc002qri.2,p.P493L	retained_intron, protein_coding, processed_transcript	uc010yht.1	nonsynonymous SNV	exon7	c.C1646T	p.P549L	TREAQAGARAGGPPESVEGEAPPAP	TREAQAGARAGGLPESVEGEAPPAP	9.0	8.0	unscreened	-	4253_19:58596107-58596107 G>A_TREAQAGARAGGLPESVEGEAPPAP
20:40727111-40727111 C>T	0.0	4253	MELANOMA	-	-	ID=COSM228735;OCCURENCE=1(skin)	1	PTPRT	ENST00000373190,p.D1265N|ENST00000356100,p.D1275N|ENST00000373187,p.D1266N|uc002xkg.3,p.D1266N|ENST00000373198,p.D1288N|NM_007050,p.D1266N|uc010ggi.3,p.D469N|ENST00000373201,p.D1256N|NM_133170,p.D1285N|ENST00000373193,p.D1269N|uc010ggj.3,p.D1285N|ENST00000373184,p.D1276N	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon28	c.G3853A	p.D1285N	PNTVADFWRLVFDYNCSSVVMLNEM	PNTVADFWRLVFNYNCSSVVMLNEM	1.0	4.0	unscreened	-	4253_20:40727111-40727111 C>T_PNTVADFWRLVFNYNCSSVVMLNEM
12:55359876-55359876 G>A	0.0	4253	MELANOMA	-	-	-	-	TESPA1	NM_001136030,p.S136F|ENST00000449076,p.S136F|NM_001098815,p.S136F|ENST00000316577,p.S136F|uc010spd.2,p.S136F|uc001sgn.4,p.S136F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010spd.2	nonsynonymous SNV	exon7	c.C407T	p.S136F	PCQLLDLGCSLASSSMTGGTNKTSS	PCQLLDLGCSLAFSSMTGGTNKTSS	6.0	8.0	unscreened	-	4253_12:55359876-55359876 G>A_PCQLLDLGCSLAFSSMTGGTNKTSS
11:18028257-18028257 T>A	1.0	4253	MELANOMA	-	-	-	-	SERGEF	uc001mnn.3,p.D78V|NM_012139,p.D78V|ENST00000265965,p.D78V|ENST00000525422,p.D78V|ENST00000528200,p.D78V|uc001mnm.3,p.D78V	protein_coding, processed_transcript, nonsense_mediated_decay	uc001mnn.3	nonsynonymous SNV	exon3	c.A233T	p.D78V	DGGDLFVCGLNKDGQLGLGHTEDIP	DGGDLFVCGLNKVGQLGLGHTEDIP	10.0	3.0	unscreened	-	4253_11:18028257-18028257 T>A_DGGDLFVCGLNKVGQLGLGHTEDIP
21:41465764-41465764 G>A	0.0	4253	MELANOMA	-	-	ID=COSM137233;OCCURENCE=1(skin)	-	DSCAM	ENST00000404019,p.S997F|NM_001389,p.S1245F|uc031rvr.1,p.S1245F|NM_001271534,p.S1245F|uc002yyq.1,p.S1245F|ENST00000400454,p.S1245F	protein_coding	uc031rvr.1	nonsynonymous SNV	exon21	c.C3734T	p.S1245F	VISEFEASPDSFSYRIPNLSRNRQY	VISEFEASPDSFFYRIPNLSRNRQY	1.0	7.0	unscreened	-	4253_21:41465764-41465764 G>A_VISEFEASPDSFFYRIPNLSRNRQY
16:28354479-28354479 A>G	0.0	4253	MELANOMA	-	-	-	-	NPIPB6	uc010vcq.2,p.S225P|uc010vcr.2,p.S243P|ENST00000532254,p.S243P|NM_001282524,p.S243P|ENST00000533640,p.S225P	protein_coding	uc010vcr.2	nonsynonymous SNV	exon7	c.T727C	p.S243P	NWVRMVAAEHRHSSGLPYWPYLTAE	NWVRMVAAEHRHPSGLPYWPYLTAE	6.0	1.0	unscreened	-	4253_16:28354479-28354479 A>G_NWVRMVAAEHRHPSGLPYWPYLTAE
8:139815131-139815131 C>T	1.0	4253	MELANOMA	-	-	-	-	COL22A1	ENST00000303045,p.G514E|uc003yvd.3,p.G514E|NM_152888,p.G514E|ENST00000435777,p.G514E	protein_coding, processed_transcript	uc003yvd.3	nonsynonymous SNV	exon11	c.G1541A	p.G514E	GAIGPVGAPGPKGEKGDVGIGPFGQ	GAIGPVGAPGPKEEKGDVGIGPFGQ	9.0	5.0	unscreened	-	4253_8:139815131-139815131 C>T_GAIGPVGAPGPKEEKGDVGIGPFGQ
1:17294851-17294851 C>T	1.0	4253	MELANOMA	-	-	-	-	CROCC	ENST00000375541,p.L1672F|uc001azu.2,p.L975F|uc001azt.2,p.L1672F|NM_014675,p.L1672F	protein_coding, processed_transcript	uc001azu.2	nonsynonymous SNV	exon18	c.C2923T	p.L975F	SLEGELQRSRLGLSDREAQAQALQD	SLEGELQRSRLGFSDREAQAQALQD	7.0	5.0	unscreened	-	4253_1:17294851-17294851 C>T_SLEGELQRSRLGFSDREAQAQALQD
18:52265368-52265368 C>T	0.0	4253	MELANOMA	-	-	-	-	DYNAP	uc002lfq.1,p.H209Y|ENST00000585973,p.H157Y|NM_173629,p.H209Y|ENST00000321600,p.H209Y	protein_coding	uc002lfq.1	nonsynonymous SNV	exon3	c.C625T	p.H209Y	TSTEPITVAPTDHL	TSTEPITVAPTDYL	1.0	8.0	unscreened	-	4253_18:52265368-52265368 C>T_TSTEPITVAPTDYL
3:1415662-1415662 C>T	0.0	4253	MELANOMA	-	-	-	-	CNTN6	uc003bpa.3,p.P667L|NM_014461,p.P667L|ENST00000539053,p.P595L|NM_001289081,p.P595L|ENST00000446702,p.P667L|NM_001289080,p.P667L|uc011asj.2,p.P595L|uc003boz.3,p.P667L|ENST00000350110,p.P667L	retained_intron, protein_coding, nonsense_mediated_decay	uc011asj.2	nonsynonymous SNV	exon15	c.C1784T	p.P595L	GKTYNATVVGLSPWVEYEFRVVAGN	GKTYNATVVGLSLWVEYEFRVVAGN	3.0	1.0	unscreened	-	4253_3:1415662-1415662 C>T_GKTYNATVVGLSLWVEYEFRVVAGN
20:17605237-17605237 G>A	1.0	4253	MELANOMA	-	-	-	-	RRBP1	ENST00000377807,p.S611F|ENST00000455029,p.S385F|ENST00000377813,p.S1044F|uc002wpu.3,p.S385F|ENST00000246043,p.S1044F|ENST00000360807,p.S611F|uc010gcl.1,p.S385F	protein_coding, processed_transcript	uc010gcl.1	nonsynonymous SNV	exon12	c.C1154T	p.S385F	ATAEQACKEKLLSLTQAKEESEKQL	ATAEQACKEKLLFLTQAKEESEKQL	10.0	7.0	unscreened	-	4253_20:17605237-17605237 G>A_ATAEQACKEKLLFLTQAKEESEKQL
3:120347331-120347331 C>T	1.0	4253	MELANOMA	-	-	-	-	HGD	ENST00000283871,p.G412R|uc003edw.3,p.G412R|NM_000187,p.G412R|uc003edv.3,p.G271R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003edw.3	nonsynonymous SNV	exon14	c.G1234A	p.G412R	FESSLSLAVTKWGLKASRCLDENYH	FESSLSLAVTKWRLKASRCLDENYH	4.0	9.0	unscreened	-	4253_3:120347331-120347331 C>T_FESSLSLAVTKWRLKASRCLDENYH
3:192994600-192994600 G>A	0.0	4253	MELANOMA	-	-	-	-	ATP13A5	ENST00000342358,p.S1112L|NM_198505,p.S1112L|uc011bsq.2,p.S1112L	retained_intron, protein_coding, processed_transcript	uc011bsq.2	nonsynonymous SNV	exon29	c.C3335T	p.S1112L	IYRGMELIPTITSWRVLILVVALTQ	IYRGMELIPTITLWRVLILVVALTQ	2.0	8.0	unscreened	-	4253_3:192994600-192994600 G>A_IYRGMELIPTITLWRVLILVVALTQ
7:36552914-36552914 C>T	1.0	4253	MELANOMA	-	-	-	-	AOAH	uc003tfh.4,p.E558K|ENST00000258749,p.E558K|NM_001637,p.E558K|uc011kba.2,p.E526K|NM_001177507,p.E526K|ENST00000538464,p.E280K|ENST00000535891,p.E526K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kba.2	nonsynonymous SNV	exon20	c.G1576A	p.E526K	KVQLQWPQILGKENPFNPQIKQVFG	KVQLQWPQILGKKNPFNPQIKQVFG	9.0	9.0	unscreened	-	4253_7:36552914-36552914 C>T_KVQLQWPQILGKKNPFNPQIKQVFG
2:219499289-219499289 T>A	1.0	4253	MELANOMA	-	-	-	-	PLCD4	ENST00000450993,p.I611N|ENST00000417849,p.I611N|NM_032726,p.I611N|ENST00000432688,p.I643N|uc021vwx.1,p.I611N	retained_intron, protein_coding, nonsense_mediated_decay	uc021vwx.1	nonsynonymous SNV	exon13	c.T1832A	p.I611N	CGYVLKPDFLRDIQSSFHPEKPISP	CGYVLKPDFLRDNQSSFHPEKPISP	6.0	4.0	unscreened	-	4253_2:219499289-219499289 T>A_CGYVLKPDFLRDNQSSFHPEKPISP
1:156085043-156085043 G>A	1.0	4253	MELANOMA	-	-	-	1	LMNA	NM_170708,p.E112K|NM_170707,p.E112K|uc001fng.2,p.E112K|ENST00000368299,p.E112K|uc009wro.2,p.E112K|uc001fnf.1,p.E112K|ENST00000368301,p.E112K|NM_005572,p.E112K|ENST00000361308,p.E112K|NM_001282625,p.E112K|ENST00000347559,p.E112K|uc001fnh.3,p.E112K|NM_001282626,p.E112K|ENST00000368300,p.E112K|uc001fni.3,p.E112K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wro.2	nonsynonymous SNV	exon1	c.G334A	p.E112K	ARLQLELSKVREEFKELKARNTKKE	ARLQLELSKVREKFKELKARNTKKE	10.0	5.0	unscreened	-	4253_1:156085043-156085043 G>A_ARLQLELSKVREKFKELKARNTKKE
X:36324914-36324914 G>A	0.0	4253	MELANOMA	-	-	-	-	CXorf30	NM_001098843,p.E150K|uc011mkc.3,p.E150K|ENST00000378653,p.E435K|ENST00000378657,p.E150K	protein_coding	uc011mkc.3	nonsynonymous SNV	exon10	c.G448A	p.E150K	KSQLIISPHSTTELPVLFYPSALGR	KSQLIISPHSTTKLPVLFYPSALGR	4.0	10.0	unscreened	-	4253_X:36324914-36324914 G>A_KSQLIISPHSTTKLPVLFYPSALGR
7:136700538-136700538 C>T	0.0	4253	MELANOMA	-	-	-	-	CHRM2	uc003vtk.1,p.S309F|uc003vtf.1,p.S309F|uc003vtn.1,p.S309F|ENST00000453373,p.S309F|uc003vto.1,p.S309F|uc003vti.1,p.S309F|uc003vtg.1,p.S309F|ENST00000401861,p.S309F|NM_001006628,p.S309F|ENST00000402486,p.S309F|NM_001006629,p.S309F|NM_001006627,p.S309F|uc003vtl.1,p.S309F|NM_000739,p.S309F|ENST00000445907,p.S309F|uc003vtm.1,p.S309F|uc022ame.1,p.S309F|NM_001006632,p.S309F|NM_001006630,p.S309F|uc003vtj.1,p.S309F|ENST00000397608,p.S309F|NM_001006626,p.S309F|NM_001006631,p.S309F|ENST00000320658,p.S309F	protein_coding, processed_transcript	uc022ame.1	nonsynonymous SNV	exon1	c.C926T	p.S309F	RDDEITQDENTVSTSLGHSKDENSK	RDDEITQDENTVFTSLGHSKDENSK	2.0	5.0	unscreened	-	4253_7:136700538-136700538 C>T_RDDEITQDENTVFTSLGHSKDENSK
2:96799793-96799793 G>A	0.0	4253	MELANOMA	-	-	-	-	ASTL	ENST00000342380,p.P83L|NM_001002036,p.P83L|uc010yui.2,p.P83L	retained_intron, protein_coding	uc010yui.2	nonsynonymous SNV	exon4	c.C248T	p.P83L	SFLIEGDIIRPSPFRLLSATSNKWP	SFLIEGDIIRPSLFRLLSATSNKWP	2.0	2.0	unscreened	-	4253_2:96799793-96799793 G>A_SFLIEGDIIRPSLFRLLSATSNKWP
18:45396934-45396934 T>C	1.0	4253	MELANOMA	-	-	-	1	SMAD2	ENST00000587269,p.T80A|ENST00000262160,p.T80A|ENST00000589877,p.T80A|ENST00000587421,p.T80A|ENST00000586514,p.T80A|uc002lcz.4,p.T80A|NM_005901,p.T80A|ENST00000402690,p.T80A|NM_001003652,p.T80A|ENST00000585978,p.T80A|uc002lcy.4,p.T80A	protein_coding, processed_transcript	uc002lcz.4	nonsynonymous SNV	exon3	c.A238G	p.T80A	QNCNTKCVTIPSTCSEIWGLSTPNT	QNCNTKCVTIPSACSEIWGLSTPNT	9.0	1.0	unscreened	-	4253_18:45396934-45396934 T>C_QNCNTKCVTIPSACSEIWGLSTPNT
14:20389492-20389492 C>T	0.0	4253	MELANOMA	-	-	-	-	OR4K5	ENST00000315915,p.H243Y|NM_001005483,p.H243Y|uc010tkw.2,p.H243Y	protein_coding	uc010tkw.2	nonsynonymous SNV	exon1	c.C727T	p.H243Y	AAMAKAFSTLASHIAVVILFFGPCI	AAMAKAFSTLASYIAVVILFFGPCI	1.0	8.0	unscreened	-	4253_14:20389492-20389492 C>T_AAMAKAFSTLASYIAVVILFFGPCI
7:144015695-144015695 G>A	1.0	4253	MELANOMA	-	-	-	-	OR2A1,OR2A42	NM_001001802,p.V160I|uc011kud.2,p.V160I|NM_001005287,p.V160I|ENST00000408951,p.V160I	protein_coding	uc011kud.2	nonsynonymous SNV	exon1	c.G478A	p.V160I	WTCGSLLALAHVVLILRLPFSGPHE	WTCGSLLALAHVILILRLPFSGPHE	1.0	1.0	unscreened	-	4253_7:144015695-144015695 G>A_WTCGSLLALAHVILILRLPFSGPHE
11:4928687-4928687 C>T	0.0	4253	MELANOMA	-	-	-	-	OR51A7	uc010qyq.2,p.P30S|ENST00000359350,p.P30S|NM_001004749,p.P30S	protein_coding	uc010qyq.2	nonsynonymous SNV	exon1	c.C88T	p.P30S	PGLEHAHIWFSIPICLMYLLAIMGN	PGLEHAHIWFSISICLMYLLAIMGN	1.0	2.0	unscreened	-	4253_11:4928687-4928687 C>T_PGLEHAHIWFSISICLMYLLAIMGN
12:47629699-47629699 C>T	0.0	4253	MELANOMA	-	-	-	-	PCED1B	uc021qxi.1,p.H285Y|NM_001281429,p.H285Y|ENST00000546455,p.H285Y|uc001rpq.3,p.H285Y|ENST00000548348,p.H165Y|ENST00000432328,p.H285Y|uc001rpn.3,p.H285Y|NM_138371,p.H285Y	protein_coding	uc021qxi.1	nonsynonymous SNV	exon1	c.C853T	p.H285Y	PRVEGPPQANRNHPALPLSPPLPSP	PRVEGPPQANRNYPALPLSPPLPSP	7.0	2.0	unscreened	-	4253_12:47629699-47629699 C>T_PRVEGPPQANRNYPALPLSPPLPSP
1:45479302-45479302 G>A	1.0	4253	MELANOMA	-	-	-	-	UROD	uc001cnb.2,p.G70R|uc001cna.2,p.G105R|uc010olj.1,p.G49R|NM_000374,p.G105R|ENST00000434478,p.G84R|ENST00000246337,p.G105R	protein_coding, processed_transcript	uc010olj.1	nonsynonymous SNV	exon3	c.G145A	p.G49R	ALGMEVTMVPGKGPSFPEPLREEQD	ALGMEVTMVPGKRPSFPEPLREEQD	10.0	5.0	unscreened	-	4253_1:45479302-45479302 G>A_ALGMEVTMVPGKRPSFPEPLREEQD
8:103297853-103297853 A>T	0.0	4253	MELANOMA	-	-	-	1	UBR5	ENST00000521922,p.V1785D|NM_001282873,p.V1791D|NM_015902,p.V1791D|uc003ykr.2,p.V1791D|ENST00000520539,p.V1791D|ENST00000220959,p.V1791D|uc003yks.2,p.V1791D	retained_intron, protein_coding, processed_transcript	uc003yks.2	nonsynonymous SNV	exon39	c.T5372A	p.V1791D	TSASSLARAYSIVIRQISDLMGLIP	TSASSLARAYSIDIRQISDLMGLIP	9.0	3.0	unscreened	-	4253_8:103297853-103297853 A>T_TSASSLARAYSIDIRQISDLMGLIP
2:152490402-152490402 C>T	0.0	4253	MELANOMA	-	-	-	-	NEB	NM_001164508,p.M3060I|uc021vrc.1,p.M3060I|NM_001271208,p.M3060I|ENST00000604864,p.M3060I|ENST00000427231,p.M3060I|uc002txu.3,p.M3060I|ENST00000397345,p.M3060I|uc031rpp.1,p.M3060I|NM_001164507,p.M3060I|ENST00000603639,p.M3060I	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon65	c.G9180A	p.M3060I	HIGARNIEDDPKMMWSMHVAKIQSD	HIGARNIEDDPKIMWSMHVAKIQSD	6.0	8.0	unscreened	-	4253_2:152490402-152490402 C>T_HIGARNIEDDPKIMWSMHVAKIQSD
4:36189148-36189148 C>T	0.0	4253	MELANOMA	-	-	-	-	ARAP2	ENST00000303965,p.V535I|uc003gsr.1,p.V535I|NM_015230,p.V535I|uc003gsq.2,p.V535I	retained_intron, protein_coding, processed_transcript	uc003gsr.1	nonsynonymous SNV	exon8	c.G1603A	p.V535I	SKGIIPLSAISTVRVQGDNKFEVVT	SKGIIPLSAISTIRVQGDNKFEVVT	6.0	5.0	unscreened	-	4253_4:36189148-36189148 C>T_SKGIIPLSAISTIRVQGDNKFEVVT
2:220357324-220357324 C>T	0.0	4253	MELANOMA	-	-	-	-	SPEG	NM_005876,p.P3207L|ENST00000312358,p.P3207L|uc010fwg.3,p.P3207L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon41	c.C9620T	p.P3207L	LRKVLSVHPWSRPSLQDCLAHPWLQ	LRKVLSVHPWSRLSLQDCLAHPWLQ	8.0	3.0	unscreened	-	4253_2:220357324-220357324 C>T_LRKVLSVHPWSRLSLQDCLAHPWLQ
21:16337429-16337429 G>A	1.0	4253	MELANOMA	-	-	-	-	NRIP1	uc031ruz.1,p.L1029F|ENST00000400202,p.L1029F|ENST00000400199,p.L1029F|ENST00000318948,p.L1029F|NM_003489,p.L1029F|uc031ruy.1,p.L1029F|uc002yjx.2,p.L1029F|uc021whl.1,p.L1029F	protein_coding	uc031ruz.1	nonsynonymous SNV	exon3	c.C3085T	p.L1029F	HLGCAGSRPESGLLNGCSMPSEKGP	HLGCAGSRPESGFLNGCSMPSEKGP	6.0	2.0	unscreened	-	4253_21:16337429-16337429 G>A_HLGCAGSRPESGFLNGCSMPSEKGP
1:74834730-74834730 G>A	0.0	4253	MELANOMA	0.0005	-	-	-	FPGT-TNNI3K,TNNI3K	uc001dgf.2,p.R449K|NM_015978,p.R449K|NM_001199327,p.R563K|ENST00000326637,p.R449K|ENST00000370891,p.R550K|uc001dgd.3,p.R550K|NM_001112808,p.R563K|uc001dge.2,p.R550K|ENST00000370899,p.R550K|uc001dgc.2,p.R550K|ENST00000370895,p.R550K|ENST00000557284,p.R550K	retained_intron, protein_coding, processed_transcript	uc001dgf.2	nonsynonymous SNV	exon14	c.G1346A	p.R449K	SMTKEKADILLLRAGLPSHFHLQLS	SMTKEKADILLLKAGLPSHFHLQLS	6.0	7.0	unscreened	-	4253_1:74834730-74834730 G>A_SMTKEKADILLLKAGLPSHFHLQLS
2:190428468-190428468 C>T	1.0	4253	MELANOMA	-	-	-	-	SLC40A1	NM_014585,p.G415E|uc002uqp.4,p.G415E|ENST00000261024,p.G415E	retained_intron, protein_coding, processed_transcript	uc002uqp.4	nonsynonymous SNV	exon7	c.G1244A	p.G415E	SPFEDIRSRFIQGESITPTKIPEIT	SPFEDIRSRFIQEESITPTKIPEIT	7.0	3.0	unscreened	-	4253_2:190428468-190428468 C>T_SPFEDIRSRFIQEESITPTKIPEIT
3:123419583-123419583 G>A	0.0	4253	MELANOMA	-	-	-	-	MYLK	ENST00000360304,p.S911L|ENST00000475616,p.S911L|NM_053028,p.S842L|NM_053025,p.S911L|NM_053027,p.S911L|ENST00000359169,p.S911L|NM_053026,p.S842L|ENST00000346322,p.S842L|ENST00000360772,p.S911L|uc003egt.3,p.S102L|uc003ego.3,p.S911L|uc003egp.3,p.S842L|uc003egr.3,p.S842L|uc003egs.3,p.S735L|uc011bjw.2,p.S911L|uc003egq.3,p.S911L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bjw.2	nonsynonymous SNV	exon15	c.C2732T	p.S911L	DLLGKKVSTKTLSEDDLKEIPAEQM	DLLGKKVSTKTLLEDDLKEIPAEQM	9.0	2.0	unscreened	-	4253_3:123419583-123419583 G>A_DLLGKKVSTKTLLEDDLKEIPAEQM
2:179640923-179640923 G>A	0.0	4253	MELANOMA	-	-	ID=COSM228331,COSM228332,COSM228330,COSM228334,COSM228333;OCCURENCE=1(skin)	-	TTN	ENST00000591111,p.R1890C|ENST00000460472,p.R1844C|NM_001256850,p.R1890C|NM_133378,p.R1890C|NM_003319,p.R1844C|NM_001267550,p.R1890C|uc021vsy.2,p.R1890C|uc031rqd.1,p.R1890C|ENST00000589042,p.R1890C|NM_133432,p.R1844C|uc021vsz.2,p.R1844C|uc031rqc.1,p.R1890C|ENST00000342175,p.R1844C|ENST00000342992,p.R1890C|ENST00000360870,p.R1890C|NM_133379,p.R1890C|uc021vta.2,p.R1844C|uc021vtb.2,p.R1844C|ENST00000359218,p.R1844C|uc002unb.3,p.R1890C|NM_133437,p.R1844C	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon28	c.C5668T	p.R1890C	GQLIRKSKRFRVRYDGIHYLDIVDC	GQLIRKSKRFRVCYDGIHYLDIVDC	5.0	9.0	unscreened	-	4253_2:179640923-179640923 G>A_GQLIRKSKRFRVCYDGIHYLDIVDC
2:31573079-31573079 C>T	0.0	4253	MELANOMA	-	-	ID=COSM286557;OCCURENCE=1(large_intestine)	-	XDH	NM_000379,p.R881Q|ENST00000379416,p.R881Q|uc002rnv.1,p.R881Q	protein_coding, processed_transcript	uc002rnv.1	nonsynonymous SNV	exon25	c.G2642A	p.R881Q	GNTQDLSQSIMERALFHMDNCYKIP	GNTQDLSQSIMEQALFHMDNCYKIP	2.0	3.0	unscreened	-	4253_2:31573079-31573079 C>T_GNTQDLSQSIMEQALFHMDNCYKIP
1:94649742-94649742 C>T	0.0	4253	MELANOMA	-	-	-	-	ARHGAP29	NM_004815,p.D738N|ENST00000260526,p.D738N|ENST00000552844,p.D738N|uc001dqk.3,p.D304N|uc001dqj.4,p.D738N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dqk.3	nonsynonymous SNV	exon7	c.G910A	p.D304N	MHLVDISEFSSHDICDVLKLYLRQL	MHLVDISEFSSHNICDVLKLYLRQL	6.0	3.0	unscreened	-	4253_1:94649742-94649742 C>T_MHLVDISEFSSHNICDVLKLYLRQL
10:5416069-5416069 A>G	0.0	4253	MELANOMA	-	-	-	-	UCN3	uc001ihx.1,p.N129S|NM_053049,p.N129S|ENST00000380433,p.N129S	protein_coding	uc001ihx.1	nonsynonymous SNV	exon2	c.A386G	p.N129S	RTKFTLSLDVPTNIMNLLFNIAKAK	RTKFTLSLDVPTSIMNLLFNIAKAK	1.0	10.0	unscreened	-	4253_10:5416069-5416069 A>G_RTKFTLSLDVPTSIMNLLFNIAKAK
8:11188748-11188748 C>A	0.0	4253	MELANOMA	-	-	-	-	SLC35G5	uc003wtp.1,p.L45M|NM_054028,p.L45M|ENST00000382435,p.L45M	protein_coding	uc003wtp.1	nonsynonymous SNV	exon1	c.C133A	p.L45M	PSGATNGLLVALLGGGLPAGFVGPL	PSGATNGLLVALMGGGLPAGFVGPL	6.0	1.0	unscreened	-	4253_8:11188748-11188748 C>A_PSGATNGLLVALMGGGLPAGFVGPL
10:26800727-26800727 G>A	1.0	4253	MELANOMA	-	-	-	-	APBB1IP	ENST00000376236,p.D195N|NM_019043,p.D195N|uc009xks.1,p.D195N|uc001iss.3,p.D195N	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xks.1	nonsynonymous SNV	exon7	c.G583A	p.D195N	HMNDNSTKSLMVDERQLARDVLDNL	HMNDNSTKSLMVNERQLARDVLDNL	7.0	10.0	unscreened	-	4253_10:26800727-26800727 G>A_HMNDNSTKSLMVNERQLARDVLDNL
15:32450651-32450651 T>G	1.0	4253	MELANOMA	-	-	-	-	CHRNA7	NM_001190455,p.C242G|NM_000746,p.C213G|ENST00000455693,p.C32G|uc021sic.2,p.C242G|uc010baf.4,p.C32G|ENST00000454250,p.C242G|uc001zft.4,p.C213G|ENST00000306901,p.C213G|uc010bak.3,p.C128G|uc010baj.1,p.C73G	protein_coding, nonsense_mediated_decay	uc021sic.2	nonsynonymous SNV	exon7	c.T724G	p.C242G	IPGKRSERFYECCKEPYPDVTFTVT	IPGKRSERFYECGKEPYPDVTFTVT	5.0	1.0	unscreened	-	4253_15:32450651-32450651 T>G_IPGKRSERFYECGKEPYPDVTFTVT
7:82544905-82544905 G>A	0.0	4253	MELANOMA	-	-	-	-	PCLO	NM_033026,p.R4133C|uc003uhv.2,p.R4133C|ENST00000333891,p.R4133C|uc003uhx.2,p.R4133C|ENST00000437081,p.R853C|ENST00000423517,p.R4133C|uc010lec.3,p.R1098C|NM_014510,p.R4133C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon2	c.C3292T	p.R1098C	LKLLKHQIKQEFRRGTESLDHLAGL	LKLLKHQIKQEFCRGTESLDHLAGL	7.0	4.0	unscreened	-	4253_7:82544905-82544905 G>A_LKLLKHQIKQEFCRGTESLDHLAGL
8:55533983-55533983 C>T	0.0	4253	MELANOMA	-	-	-	-	RP1	ENST00000220676,p.P153S|uc011ldy.1,p.P153S|uc003xsd.1,p.P153S|NM_006269,p.P153S	protein_coding	uc011ldy.1	nonsynonymous SNV	exon1	c.C457T	p.P153S	PVAVAAPGMPRPPRSLVVFRNGDPK	PVAVAAPGMPRPSRSLVVFRNGDPK	1.0	8.0	unscreened	-	4253_8:55533983-55533983 C>T_PVAVAAPGMPRPSRSLVVFRNGDPK
6:32796709-32796709 T>G	1.0	4253	MELANOMA	-	-	-	-	TAP2	uc003ocd.3,p.K679Q	retained_intron, protein_coding, processed_transcript	uc003ocd.3	nonsynonymous SNV	exon12	c.A2035C	p.K679Q	QRAHQILVLQEGKLQKLAQLQEGQD	QRAHQILVLQEGQLQKLAQLQEGQD	9.0	2.0	unscreened	-	4253_6:32796709-32796709 T>G_QRAHQILVLQEGQLQKLAQLQEGQD
7:94055329-94055329 G>A	1.0	4253	MELANOMA	-	-	-	-	COL1A2	uc003ung.1,p.G988D|ENST00000297268,p.G988D|NM_000089,p.G988D	retained_intron, protein_coding	uc003ung.1	nonsynonymous SNV	exon45	c.G2963A	p.G988D	GNRGETGPSGPVGPAGAVGPRGPSG	GNRGETGPSGPVDPAGAVGPRGPSG	10.0	6.0	unscreened	-	4253_7:94055329-94055329 G>A_GNRGETGPSGPVDPAGAVGPRGPSG
5:171766065-171766065 C>T	0.0	4253	MELANOMA	-	-	-	-	SH3PXD2B	uc003mbr.3,p.D682N|NM_001017995,p.D682N|ENST00000311601,p.D682N	protein_coding, processed_transcript	uc003mbr.3	nonsynonymous SNV	exon13	c.G2044A	p.D682N	LRPAKSQDKSLLDGEGPQAVGGQDV	LRPAKSQDKSLLNGEGPQAVGGQDV	9.0	5.0	unscreened	-	4253_5:171766065-171766065 C>T_LRPAKSQDKSLLNGEGPQAVGGQDV
9:34372524-34372524 C>T	0.0	4253	MELANOMA	-	-	-	-	KIAA1161	ENST00000297625,p.G106R	protein_coding	ENST00000297625	nonsynonymous SNV	exon2	c.G316A	p.G106R	DGALLGCSLTADGLPLHFFIQTVRP	DGALLGCSLTADRLPLHFFIQTVRP	4.0	10.0	unscreened	-	4253_9:34372524-34372524 C>T_DGALLGCSLTADRLPLHFFIQTVRP
13:20010373-20010373 G>A	0.0	4253	MELANOMA	-	-	-	-	TPTE2	NM_001141968,p.P259L|NM_130785,p.P293L|ENST00000255310,p.P293L|ENST00000382975,p.P330L|ENST00000400230,p.P370L|NM_199254,p.P370L|uc010tcl.2,p.P41L|NM_001271850,p.P41L|ENST00000462409,p.P239L|ENST00000400103,p.P259L|uc009zzm.3,p.P41L|ENST00000457266,p.P259L|ENST00000382978,p.P330L|uc001ume.3,p.P293L|ENST00000390680,p.P293L|ENST00000382977,p.P370L|uc009zzl.3,p.P259L|uc001umd.3,p.P370L	protein_coding, nonsense_mediated_decay	uc010tcl.2	nonsynonymous SNV	exon2	c.C122T	p.P41L	KTHSNKFQGVETPSQNRYVGYFAQV	KTHSNKFQGVETLSQNRYVGYFAQV	5.0	4.0	unscreened	-	4253_13:20010373-20010373 G>A_KTHSNKFQGVETLSQNRYVGYFAQV
1:22834617-22834617 C>T	0.0	4253	MELANOMA	-	-	-	-	ZBTB40	uc001bft.2,p.P495L|ENST00000375647,p.P495L|NM_001083621,p.P495L|uc001bfu.2,p.P495L|ENST00000374651,p.P383L|uc009vqi.1,p.P383L|ENST00000404138,p.P495L|NM_014870,p.P495L|uc001bfv.1,p.P124L	protein_coding	uc009vqi.1	nonsynonymous SNV	exon5	c.C1148T	p.P383L	LLKMISHMTSLAPGEREVMEKLVKR	LLKMISHMTSLALGEREVMEKLVKR	7.0	3.0	unscreened	-	4253_1:22834617-22834617 C>T_LLKMISHMTSLALGEREVMEKLVKR
4:13605023-13605023 C>A	1.0	4253	MELANOMA	-	-	-	-	BOD1L1	ENST00000040738,p.L1167F|uc003gmz.1,p.L1167F|uc010idr.1,p.L504F|NM_148894,p.L1167F	retained_intron, protein_coding, nonsense_mediated_decay	uc010idr.1	nonsynonymous SNV	exon10	c.G1512T	p.L504F	KQKTSATVQKDELRTCTADSKATAP	KQKTSATVQKDEFRTCTADSKATAP	9.0	1.0	unscreened	-	4253_4:13605023-13605023 C>A_KQKTSATVQKDEFRTCTADSKATAP
10:48388104-48388104 G>A	0.0	4253	MELANOMA	-	-	-	-	RBP3	uc001jez.3,p.S925F|ENST00000224600,p.S925F|NM_002900,p.S925F	protein_coding	uc001jez.3	nonsynonymous SNV	exon1	c.C2774T	p.S925F	EPDITVPMSEALSIAQDIVALRAKV	EPDITVPMSEALFIAQDIVALRAKV	1.0	10.0	unscreened	-	4253_10:48388104-48388104 G>A_EPDITVPMSEALFIAQDIVALRAKV
1:33354869-33354869 A>T	0.0	4253	MELANOMA	-	-	-	-	HPCA	ENST00000373467,p.I124F|NM_002143,p.I124F|uc001bwh.3,p.I124F	protein_coding, processed_transcript	uc001bwh.3	nonsynonymous SNV	exon2	c.A370T	p.I124F	GNGYISREEMLEIVQAIYKMVSSVM	GNGYISREEMLEFVQAIYKMVSSVM	4.0	6.0	unscreened	-	4253_1:33354869-33354869 A>T_GNGYISREEMLEFVQAIYKMVSSVM
5:178548751-178548751 C>T	1.0	4253	MELANOMA	-	-	-	-	ADAMTS2	ENST00000251582,p.R1030Q|NM_014244,p.R1030Q|uc003mjw.3,p.R1030Q	retained_intron, protein_coding	uc003mjw.3	nonsynonymous SNV	exon21	c.G3089A	p.R1030Q	ETARTCRLGPCPRNISDPSKKSYVV	ETARTCRLGPCPQNISDPSKKSYVV	7.0	5.0	unscreened	-	4253_5:178548751-178548751 C>T_ETARTCRLGPCPQNISDPSKKSYVV
X:36385205-36385205 G>A	1.0	4253	MELANOMA	-	-	-	-	CXorf30	ENST00000446478,p.E101K|ENST00000378657,p.E496K|ENST00000378653,p.E781K|NM_001098843,p.E496K|uc011mkc.3,p.E496K	protein_coding	uc011mkc.3	nonsynonymous SNV	exon17	c.G1486A	p.E496K	AVIDIEGVGLFKESVFELRLKSQTR	AVIDIEGVGLFKKSVFELRLKSQTR	4.0	10.0	unscreened	-	4253_X:36385205-36385205 G>A_AVIDIEGVGLFKKSVFELRLKSQTR
16:71509414-71509414 G>A	1.0	4253	MELANOMA	-	-	-	-	ZNF19	uc002fak.1,p.R334W|uc010cgc.1,p.R346W|ENST00000565637,p.R304W|ENST00000564230,p.R346W|ENST00000565100,p.R276W|uc002fal.1,p.R334W|NM_006961,p.R346W|ENST00000288177,p.R346W|uc002fam.1,p.R346W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cgc.1	nonsynonymous SNV	exon6	c.C1036T	p.R346W	CGQAFNFHTKLTRHQRIHSEEKPFD	CGQAFNFHTKLTWHQRIHSEEKPFD	6.0	7.0	unscreened	-	4253_16:71509414-71509414 G>A_CGQAFNFHTKLTWHQRIHSEEKPFD
4:69811104-69811104 A>C	0.0	4253	MELANOMA	-	-	-	-	UGT2A3	ENST00000251566,p.F262V|ENST00000503012,p.F128V|uc003hef.2,p.F262V|NM_024743,p.F262V	protein_coding, nonsense_mediated_decay	uc003hef.2	nonsynonymous SNV	exon2	c.T784G	p.F262V	KAEIWLIRTYWDFEFPQPYQPNFEF	KAEIWLIRTYWDVEFPQPYQPNFEF	1.0	5.0	unscreened	-	4253_4:69811104-69811104 A>C_KAEIWLIRTYWDVEFPQPYQPNFEF
5:153026563-153026563 C>T	0.0	4253	MELANOMA	-	-	-	-	GRIA1	NM_001114183,p.S99F|uc003luy.4,p.S99F|uc003lva.4,p.S99F|NM_001258021,p.S109F|NM_000827,p.S99F|ENST00000518783,p.S109F|NM_001258023,p.S30F|NM_001258022,p.S109F|uc010jia.1,p.S79F|uc011dcy.2,p.S109F|uc011dcx.2,p.S30F|ENST00000448073,p.S109F|ENST00000285900,p.S99F|ENST00000521843,p.S30F|uc011dcz.2,p.S109F|ENST00000340592,p.S99F	retained_intron, protein_coding, processed_transcript	uc011dcz.2	nonsynonymous SNV	exon3	c.C326T	p.S109F	GFYERRTVNMLTSFCGALHVCFITP	GFYERRTVNMLTFFCGALHVCFITP	3.0	5.0	unscreened	-	4253_5:153026563-153026563 C>T_GFYERRTVNMLTFFCGALHVCFITP
1:170115351-170115351 C>T	0.0	4253	MELANOMA	-	-	ID=COSM2074112;OCCURENCE=1(pancreas)	-	METTL11B	uc009wvv.1,p.R35C|NM_001136107,p.R35C|ENST00000439373,p.R35C	protein_coding, processed_transcript	uc009wvv.1	nonsynonymous SNV	exon1	c.C103T	p.R35C	RHSMSFILHKAIRNDFFQSYLYLLE	RHSMSFILHKAICNDFFQSYLYLLE	2.0	8.0	unscreened	-	4253_1:170115351-170115351 C>T_RHSMSFILHKAICNDFFQSYLYLLE
5:43277278-43277278 G>A	0.0	4253	MELANOMA	-	-	ID=COSM449697;OCCURENCE=1(breast)	-	NIM1K	uc031sjg.1,p.E138K|uc003jno.4,p.E138K|NM_153361,p.E138K|ENST00000326035,p.E138K|ENST00000512796,p.E138K	protein_coding, processed_transcript	uc031sjg.1	nonsynonymous SNV	exon3	c.G412A	p.E138K	EKLHHPNIIRLYEVVETLSKLHLVM	EKLHHPNIIRLYKVVETLSKLHLVM	5.0	5.0	unscreened	-	4253_5:43277278-43277278 G>A_EKLHHPNIIRLYKVVETLSKLHLVM
5:140802947-140802947 G>-	0.0	4253	MELANOMA	-	-	-	-	PCDHGA11	ENST00000398587,p.W718fs|NM_032091,p.W718fs|uc003lko.1,p.W718fs|NM_018914,p.W718fs|uc003lkq.2,p.W718fs	protein_coding	uc003lkq.2	frameshift deletion	exon1	c.2153delG	p.W718fs	LVFVIVLLALRLWRWHKSRLLQASE	LVFVIVLLALRLCAGISHACCRLLKAGWQVCPRHIL	4.0	5.0	unscreened	-	4253_5:140802947-140802947 G>-_LVFVIVLLALRLCAGISHACCRLLKAGWQVCPRHIL
2:179511854-179511854 C>T	0.0	4253	MELANOMA	-	-	-	-	TTN	NM_001267550,p.E13387K|ENST00000589042,p.E13387K|uc031rqc.1,p.E13387K|uc002umx.1,p.E86K|ENST00000446966,p.E226K	retained_intron, protein_coding	uc031rqc.1	nonsynonymous SNV	exon215	c.G40159A	p.E13387K	EVPPAEVEETPEEIIYEEKASITIG	EVPPAEVEETPEKIIYEEKASITIG	5.0	9.0	unscreened	-	4253_2:179511854-179511854 C>T_EVPPAEVEETPEKIIYEEKASITIG
10:78785210-78785210 C>T	0.0	4253	MELANOMA	-	-	ID=COSN228677;OCCURENCE=1(large_intestine),1(skin),1(kidney)	-	KCNMA1	ENST00000604624,p.R506Q|uc021ptu.1,p.R591Q|NM_001014797,p.R645Q|NM_001271518,p.R591Q|uc001jxj.2,p.R645Q	protein_coding, processed_transcript	uc021ptu.1	nonsynonymous SNV	exon16	c.G1772A	p.R591Q	IEYKSANRESRSRKRILINPGNHLK	IEYKSANRESRSQKRILINPGNHLK	8.0	10.0	-	-	4253_10:78785210-78785210 C>T_IEYKSANRESRSQKRILINPGNHLK
1:248722659-248722659 C>T	0.0	4253	MELANOMA	-	rs201896684	-	-	OR2T29	ENST00000328570,p.G45E|uc001ieo.2,p.G45E|NM_001004694,p.G45E	protein_coding	uc001ieo.2	nonsynonymous SNV	exon1	c.G134A	p.G45E	VVIFVVFLKALSGNAVLILLIHCDA	VVIFVVFLKALSENAVLILLIHCDA	1.0	1.0	unscreened	-	4253_1:248722659-248722659 C>T_VVIFVVFLKALSENAVLILLIHCDA
2:216964985-216964985 C>T	0.0	4253	MELANOMA	-	-	-	-	TMEM169	ENST00000437356,p.S205L|uc010zjr.2,p.S205L|NM_001142310,p.S205L|NM_001142311,p.S205L|uc010zjs.2,p.S205L|ENST00000295658,p.S205L|ENST00000454545,p.S205L|uc002vfv.4,p.S205L|NM_001142312,p.S205L|NM_138390,p.S205L|ENST00000406027,p.S205L|uc002vfw.3,p.S205L	protein_coding	uc010zjs.2	nonsynonymous SNV	exon3	c.C614T	p.S205L	VYNEERTFWHKISYCPCLVLFYPVL	VYNEERTFWHKILYCPCLVLFYPVL	4.0	4.0	unscreened	-	4253_2:216964985-216964985 C>T_VYNEERTFWHKILYCPCLVLFYPVL
1:24201831-24201831 T>G	0.0	4253	MELANOMA	-	-	-	-	CNR2	uc001bif.3,p.N93H|ENST00000374472,p.N93H|NM_001841,p.N93H|ENST00000536471,p.N93H|uc021oij.1,p.N93H	protein_coding	uc021oij.1	nonsynonymous SNV	exon1	c.A277C	p.N93H	FLASVVFACSFVNFHVFHGVDSKAV	FLASVVFACSFVHFHVFHGVDSKAV	2.0	4.0	unscreened	-	4253_1:24201831-24201831 T>G_FLASVVFACSFVHFHVFHGVDSKAV
17:20799193-20799193 C>G	0.0	4253	MELANOMA	-	-	-	-	CCDC144NL	NM_001004306,p.L47F|uc002gyf.3,p.L47F|ENST00000327925,p.L47F	protein_coding, processed_transcript	uc002gyf.3	nonsynonymous SNV	exon1	c.G141C	p.L47F	QWYLDYPGDQWSLGFSYSWWKNSVG	QWYLDYPGDQWSFGFSYSWWKNSVG	3.0	5.0	unscreened	-	4253_17:20799193-20799193 C>G_QWYLDYPGDQWSFGFSYSWWKNSVG
20:17605237-17605237 G>A	1.0	4253	MELANOMA	-	-	-	-	RRBP1	NM_004587,p.S611F|uc002wpv.1,p.S611F|uc002wpw.1,p.S611F|NM_001042576,p.S611F	protein_coding, processed_transcript	uc002wpw.1	nonsynonymous SNV	exon13	c.C1832T	p.S611F	ATAEQACKEKLHSLTQAKEESEKQL	ATAEQACKEKLHFLTQAKEESEKQL	10.0	7.0	unscreened	-	4253_20:17605237-17605237 G>A_ATAEQACKEKLHFLTQAKEESEKQL
6:146126674-146126674 C>T	0.0	4253	MELANOMA	-	-	-	-	FBXO30	uc003qla.3,p.E290K|NM_032145,p.E290K|ENST00000237281,p.E290K	protein_coding	uc003qla.3	nonsynonymous SNV	exon2	c.G868A	p.E290K	YDTSALCNGFPLENICTQVIDQNQN	YDTSALCNGFPLKNICTQVIDQNQN	5.0	10.0	unscreened	-	4253_6:146126674-146126674 C>T_YDTSALCNGFPLKNICTQVIDQNQN
14:69392358-69392358 C>T	1.0	4253	MELANOMA	-	-	-	-	ACTN1	uc010ttd.1,p.R25Q|ENST00000556433,p.R25Q	retained_intron, protein_coding, processed_transcript	uc010ttd.1	nonsynonymous SNV	exon2	c.G74A	p.R25Q	GKTFTAWCNSHLRKAGTQIENIEED	GKTFTAWCNSHLQKAGTQIENIEED	10.0	1.0	unscreened	-	4253_14:69392358-69392358 C>T_GKTFTAWCNSHLQKAGTQIENIEED
14:69392358-69392358 C>T	1.0	4253	MELANOMA	-	-	-	-	ACTN1	ENST00000553659,p.R45Q	retained_intron, protein_coding, processed_transcript	ENST00000553659	nonsynonymous SNV	exon2	c.G134A	p.R45Q	CATFTAWCNSHLRKAGTQIENIEED	CATFTAWCNSHLQKAGTQIENIEED	10.0	1.0	unscreened	-	4253_14:69392358-69392358 C>T_CATFTAWCNSHLQKAGTQIENIEED
14:69392358-69392358 C>T	1.0	4253	MELANOMA	-	-	-	-	ACTN1	ENST00000394419,p.R46Q|uc001xkl.3,p.R46Q|NM_001102,p.R46Q|uc001xkn.3,p.R46Q|ENST00000538545,p.R46Q|ENST00000193403,p.R46Q|uc001xkm.3,p.R46Q|NM_001130004,p.R46Q|ENST00000438964,p.R46Q|NM_001130005,p.R46Q	retained_intron, protein_coding, processed_transcript	uc001xkn.3	nonsynonymous SNV	exon2	c.G137A	p.R46Q	RKTFTAWCNSHLRKAGTQIENIEED	RKTFTAWCNSHLQKAGTQIENIEED	10.0	1.0	unscreened	-	4253_14:69392358-69392358 C>T_RKTFTAWCNSHLQKAGTQIENIEED
14:69392358-69392358 C>T	1.0	4253	MELANOMA	-	-	-	-	ACTN1	ENST00000556571,p.R23Q	retained_intron, protein_coding, processed_transcript	ENST00000556571	nonsynonymous SNV	exon2	c.G68A	p.R23Q	EETFTAWCNSHLRKAGTQIENIEED	EETFTAWCNSHLQKAGTQIENIEED	10.0	1.0	unscreened	-	4253_14:69392358-69392358 C>T_EETFTAWCNSHLQKAGTQIENIEED
3:138725077-138725077 G>A	0.0	4253	MELANOMA	-	-	-	-	PRR23A	ENST00000383163,p.P12S|uc011bms.2,p.P12S|NM_001134659,p.P12S	protein_coding	uc011bms.2	nonsynonymous SNV	exon1	c.C34T	p.P12S	MGSRPRSPSAFPAPWWGQQPGGPG	MGSRPRSPSAFSAPWWGQQPGGPG	1.0	8.0	unscreened	-	4253_3:138725077-138725077 G>A_MGSRPRSPSAFSAPWWGQQPGGPG
5:135207320-135207320 C>T	0.0	4253	MELANOMA	-	-	-	-	SLC25A48	ENST00000433282,p.P144S|ENST00000420621,p.P198S|uc003laz.1,p.P198S|ENST00000274513,p.P198S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003laz.1	nonsynonymous SNV	exon5	c.C592T	p.P198S	LRDVPGYCLYFIPYVFLSEWITPEA	LRDVPGYCLYFISYVFLSEWITPEA	5.0	5.0	unscreened	-	4253_5:135207320-135207320 C>T_LRDVPGYCLYFISYVFLSEWITPEA
8:3216769-3216769 G>A	0.0	4253	MELANOMA	-	-	-	-	CSMD1	NM_033225,p.S1070F|uc022aqr.1,p.S1070F|ENST00000542608,p.S1070F|uc011kwj.2,p.S463F|ENST00000400186,p.S1071F|ENST00000537824,p.S1070F|ENST00000539096,p.S1070F|uc003wqe.3,p.S227F|ENST00000602723,p.S1071F|ENST00000602557,p.S1071F|ENST00000520002,p.S1071F	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon21	c.C3209T	p.S1070F	GFHFGVGDSLTFSCFLGYRLEGATK	GFHFGVGDSLTFFCFLGYRLEGATK	2.0	4.0	unscreened	-	4253_8:3216769-3216769 G>A_GFHFGVGDSLTFFCFLGYRLEGATK
1:12855024-12855024 C>T	0.0	4253	MELANOMA	-	-	-	-	PRAMEF1	NM_001294139,p.H13Y|ENST00000400814,p.H13Y	protein_coding	NM_001294139	nonsynonymous SNV	exon1	c.C37T	p.H13Y	MKGGKAHQTCPFHNRTSVLTGLVIT	MKGGKAHQTCPFYNRTSVLTGLVIT	1.0	9.0	unscreened	-	4253_1:12855024-12855024 C>T_MKGGKAHQTCPFYNRTSVLTGLVIT
1:77528664-77528664 C>T	0.0	4253	MELANOMA	-	-	-	-	ST6GALNAC5	NM_030965,p.P262S|ENST00000477717,p.P262S|uc001dhi.3,p.P262S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001dhi.3	nonsynonymous SNV	exon5	c.C784T	p.P262S	VYGMVPPDFCRDPNHPSVPYHYYEP	VYGMVPPDFCRDSNHPSVPYHYYEP	5.0	6.0	unscreened	-	4253_1:77528664-77528664 C>T_VYGMVPPDFCRDSNHPSVPYHYYEP
11:110450470-110450470 G>A	1.0	4253	MELANOMA	-	-	-	-	ARHGAP20	uc001pla.2,p.P1041L|ENST00000357139,p.P1041L|NM_020809,p.P1067L|NM_001258418,p.P1031L|ENST00000528829,p.P1031L|ENST00000527598,p.P1031L|NM_001258415,p.P1044L|uc001pky.2,p.P1044L|ENST00000533353,p.P1041L|ENST00000524756,p.P1044L|ENST00000529591,p.P610L|NM_001258416,p.P1041L|NM_001258417,p.P1031L|ENST00000260283,p.P1067L|uc009yyb.2,p.P1031L|uc031qdz.1,p.P1031L|uc001pkz.2,p.P1067L|uc001plb.2,p.P610L	protein_coding	uc031qdz.1	nonsynonymous SNV	exon15	c.C3092T	p.P1031L	KAARPEEEKIASPKGPLEPPPHASG	KAARPEEEKIASLKGPLEPPPHASG	6.0	2.0	unscreened	-	4253_11:110450470-110450470 G>A_KAARPEEEKIASLKGPLEPPPHASG
12:39998716-39998716 C>T	0.0	4253	MELANOMA	-	-	-	-	ABCD2	ENST00000308666,p.G418D|NM_005164,p.G418D|uc001rmb.2,p.G418D	protein_coding	uc001rmb.2	nonsynonymous SNV	exon4	c.G1253A	p.G418D	IMSSYKEVTELAGYTARVYNMFWVF	IMSSYKEVTELADYTARVYNMFWVF	2.0	2.0	unscreened	-	4253_12:39998716-39998716 C>T_IMSSYKEVTELADYTARVYNMFWVF
19:15794404-15794404 C>T	0.0	4253	MELANOMA	-	-	-	-	CYP4F12	uc002nbl.3,p.S250F|ENST00000550308,p.S250F|ENST00000324632,p.S250F|NM_023944,p.S250F	retained_intron, protein_coding, nonsense_mediated_decay	uc002nbl.3	nonsynonymous SNV	exon7	c.C749T	p.S250F	HILQHMDFLYYLSHDGRRFHRACRL	HILQHMDFLYYLFHDGRRFHRACRL	2.0	7.0	unscreened	-	4253_19:15794404-15794404 C>T_HILQHMDFLYYLFHDGRRFHRACRL
11:94533197-94533197 G>C	1.0	4253	MELANOMA	-	-	-	-	AMOTL1	NM_130847,p.G281R|ENST00000433060,p.G281R|uc001pfc.3,p.G231R|ENST00000317837,p.G281R|ENST00000317829,p.G231R|NM_001301007,p.G231R|uc001pfb.3,p.G281R	retained_intron, protein_coding, processed_transcript	uc001pfc.3	nonsynonymous SNV	exon2	c.G691C	p.G231R	SLERNGAKQHLPGSGNGKGFKVGGG	SLERNGAKQHLPRSGNGKGFKVGGG	8.0	8.0	unscreened	-	4253_11:94533197-94533197 G>C_SLERNGAKQHLPRSGNGKGFKVGGG
18:44775397-44775397 G>A	0.0	4253	MELANOMA	-	-	-	-	SKOR2	uc031rif.1,p.S53L|NM_001278063,p.S53L|NM_001037802,p.S53L|ENST00000425639,p.S53L|uc010dnt.2,p.S53L|ENST00000400404,p.S53L	protein_coding	uc031rif.1	nonsynonymous SNV	exon1	c.C158T	p.S53L	VGQVILYGIPIVSLVIDGQERLCLA	VGQVILYGIPIVLLVIDGQERLCLA	1.0	8.0	unscreened	-	4253_18:44775397-44775397 G>A_VGQVILYGIPIVLLVIDGQERLCLA
6:54186184-54186184 G>A	0.0	4253	MELANOMA	-	-	-	-	TINAG	NM_014464,p.G170E|uc003pcj.2,p.G170E|ENST00000370869,p.G166E|ENST00000259782,p.G170E|ENST00000370864,p.G152E	protein_coding, processed_transcript	uc003pcj.2	nonsynonymous SNV	exon3	c.G509A	p.G170E	SELIEQVNKGDYGWTAQNYSQFWGM	SELIEQVNKGDYEWTAQNYSQFWGM	1.0	3.0	unscreened	-	4253_6:54186184-54186184 G>A_SELIEQVNKGDYEWTAQNYSQFWGM
5:154297511-154297511 C>T	0.0	4253	MELANOMA	-	-	-	-	GEMIN5	uc011ddk.1,p.M550I|NM_015465,p.M551I|uc003lvx.3,p.M551I|ENST00000285873,p.M551I|NM_001252156,p.M550I	retained_intron, protein_coding	uc011ddk.1	nonsynonymous SNV	exon12	c.G1650A	p.M550I	HTEISWKADGKIMALGNEDGSIEIF	HTEISWKADGKIIALGNEDGSIEIF	7.0	5.0	unscreened	-	4253_5:154297511-154297511 C>T_HTEISWKADGKIIALGNEDGSIEIF
6:12749966-12749966 C>T	0.0	4253	MELANOMA	-	-	-	-	PHACTR1	uc003nag.2,p.S65F|uc003nah.2,p.S65F|ENST00000379350,p.S65F|uc010jpc.3,p.S65F|uc011dir.2,p.S65F|NM_030948,p.S65F|NM_001242648,p.S65F|ENST00000379348,p.S65F|uc003nai.3,p.S65F|ENST00000332995,p.S65F	protein_coding, processed_transcript	uc011dir.2	nonsynonymous SNV	exon4	c.C194T	p.S65F	DDIDRRPIRRVRSKSDTPYLAEARI	DDIDRRPIRRVRFKSDTPYLAEARI	10.0	2.0	unscreened	-	4253_6:12749966-12749966 C>T_DDIDRRPIRRVRFKSDTPYLAEARI
3:56468983-56468983 G>A	0.0	4253	MELANOMA	-	-	-	-	ERC2	ENST00000288221,p.S18F|ENST00000460849,p.S18F|uc021wzo.1,p.S18F|NM_015576,p.S18F|uc003dhr.1,p.S18F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wzo.1	nonsynonymous SNV	exon1	c.C53T	p.S18F	RTITNLEGSPSRSPRLPRSPRLGHR	RTITNLEGSPSRFPRLPRSPRLGHR	5.0	2.0	unscreened	-	4253_3:56468983-56468983 G>A_RTITNLEGSPSRFPRLPRSPRLGHR
1:157736695-157736695 C>T	0.0	4253	MELANOMA	-	-	-	-	FCRL2	NM_030764,p.G410D|ENST00000392274,p.G410D|uc001frd.2,p.G157D|uc009wsp.2,p.G126D|NM_001159488,p.G410D|ENST00000469986,p.G157D|ENST00000368181,p.G126D|uc010phz.1,p.G410D|ENST00000361516,p.G410D|uc001fre.2,p.G410D	retained_intron, protein_coding	uc010phz.1	nonsynonymous SNV	exon7	c.G1229A	p.G410D	TAGVLWGLFGVLGFTGVALLLYALF	TAGVLWGLFGVLDFTGVALLLYALF	1.0	4.0	unscreened	-	4253_1:157736695-157736695 C>T_TAGVLWGLFGVLDFTGVALLLYALF
1:201016365-201016365 C>T	0.0	4253	MELANOMA	-	-	-	-	CACNA1S	NM_000069,p.D1516N|ENST00000362061,p.D1516N|uc001gvv.3,p.D1516N|ENST00000367338,p.D1497N	protein_coding	uc001gvv.3	nonsynonymous SNV	exon38	c.G4546A	p.D1516N	KLLDQVIPPIGDDEVTVGKFYATFL	KLLDQVIPPIGDNEVTVGKFYATFL	1.0	8.0	unscreened	-	4253_1:201016365-201016365 C>T_KLLDQVIPPIGDNEVTVGKFYATFL
7:150500826-150500826 C>T	0.0	4253	MELANOMA	-	-	-	-	TMEM176A	ENST00000484928,p.S154F|ENST00000461345,p.S95F|ENST00000475536,p.S106F|ENST00000468689,p.S95F|ENST00000004103,p.S154F|uc003whx.1,p.S154F|NM_018487,p.S154F	retained_intron, protein_coding	uc003whx.1	nonsynonymous SNV	exon5	c.C461T	p.S154F	YGYSYYNSACRISSSSDWNTPAPTQ	YGYSYYNSACRIFSSSDWNTPAPTQ	10.0	4.0	-	-	4253_7:150500826-150500826 C>T_YGYSYYNSACRIFSSSDWNTPAPTQ
6:14135355-14135355 A>G	1.0	4253	MELANOMA	-	-	-	-	CD83	NM_001040280,p.Q168R|uc003nbh.3,p.Q168R	protein_coding	uc003nbh.3	nonsynonymous SNV	exon5	c.A503G	p.Q168R	LTLIIFTCFARLQSIFPDFSKAGME	LTLIIFTCFARLRSIFPDFSKAGME	8.0	4.0	unscreened	-	4253_6:14135355-14135355 A>G_LTLIIFTCFARLRSIFPDFSKAGME
5:130782276-130782276 C>T	0.0	4253	MELANOMA	-	-	-	-	RAPGEF6	uc003kvm.2,p.M30I|NM_001164386,p.M1115I|uc003kvp.2,p.M1157I|ENST00000507093,p.M1115I|NM_001164387,p.M1120I|ENST00000296859,p.M1115I|uc003kvn.2,p.M1107I|NM_016340,p.M1107I|ENST00000512052,p.M830I|ENST00000515170,p.M1107I|ENST00000509018,p.M1107I|ENST00000308008,p.M1107I|NM_001164388,p.M1115I|uc010jdj.2,p.M1115I|uc003kvq.3,p.M832I|uc003kvo.2,p.M1120I|ENST00000307984,p.M1120I|NM_001164389,p.M1107I|uc010jdi.2,p.M1115I|ENST00000514667,p.M1157I|uc003kvr.3,p.M1107I	 protein_coding,retained_intron,protein_coding, nonsense_mediated_decay, processed_transcript	uc010jdj.2	nonsynonymous SNV	exon23	c.G3345A	p.M1115I	LLNAKKLYEDAQMARKVKQYLSSLD	LLNAKKLYEDAQIARKVKQYLSSLD	6.0	4.0	unscreened	-	4253_5:130782276-130782276 C>T_LLNAKKLYEDAQIARKVKQYLSSLD
17:76456258-76456258 C>A	0.0	4253	MELANOMA	-	-	-	-	DNAH17	NM_173628,p.D3141Y|ENST00000585328,p.D3136Y|uc010dhp.2,p.D3141Y|ENST00000389840,p.D3127Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon59	c.G9421T	p.D3141Y	AEPALLAAQEALDTLNKNNLTELKS	AEPALLAAQEALYTLNKNNLTELKS	1.0	5.0	unscreened	-	4253_17:76456258-76456258 C>A_AEPALLAAQEALYTLNKNNLTELKS
X:123526195-123526195 G>A	0.0	4253	MELANOMA	-	-	-	-	TENM1	uc010nqy.3,p.H1799Y|NM_014253,p.H1792Y|NM_001163279,p.H1798Y|uc011muj.2,p.H1798Y|ENST00000371130,p.H1792Y|uc004euj.3,p.H1792Y|ENST00000422452,p.H1799Y|NM_001163278,p.H1799Y	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon28	c.C5392T	p.H1798Y	GNVSAFERRLRAHNRNLLSIDFDHI	GNVSAFERRLRAYNRNLLSIDFDHI	3.0	10.0	unscreened	-	4253_X:123526195-123526195 G>A_GNVSAFERRLRAYNRNLLSIDFDHI
3:121132117-121132117 C>T	0.0	4253	MELANOMA	-	-	-	-	STXBP5L	uc011bji.2,p.P1021S|NM_014980,p.P1045S|ENST00000273666,p.P1045S|uc003eec.4,p.P1045S|ENST00000471454,p.P1021S|ENST00000471262,p.P988S	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon24	c.C3061T	p.P1021S	FTNEGQALYLVSPTEIQRLTYSQEM	FTNEGQALYLVSSTEIQRLTYSQEM	1.0	3.0	unscreened	-	4253_3:121132117-121132117 C>T_FTNEGQALYLVSSTEIQRLTYSQEM
11:5275695-5275695 T>G	1.0	4253	MELANOMA	-	-	-	-	HBG2	uc001maj.1,p.N48H|ENST00000380259,p.N48H|uc001mai.1,p.N48H|NM_000184,p.N48H|ENST00000380252,p.N38H|ENST00000336906,p.N48H	protein_coding, processed_transcript, nonsense_mediated_decay	uc001maj.1	nonsynonymous SNV	exon2	c.A142C	p.N48H	YPWTQRFFDSFGNLSSASAIMGNPK	YPWTQRFFDSFGHLSSASAIMGNPK	7.0	2.0	unscreened	-	4253_11:5275695-5275695 T>G_YPWTQRFFDSFGHLSSASAIMGNPK
2:166929947-166929947 G>A	0.0	4253	MELANOMA	-	-	-	-	SCN1A	uc021vsb.1,p.P62L|uc010fpk.3,p.P62L|NM_001165964,p.P62L|NM_001202435,p.P62L|uc002udo.4,p.P62L|ENST00000423058,p.P62L|ENST00000303395,p.P62L|ENST00000409050,p.P62L|ENST00000375405,p.P62L|NM_006920,p.P62L|NM_001165963,p.P62L	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon1	c.C185T	p.P62L	KPNSDLEAGKNLPFIYGDIPPEMVS	KPNSDLEAGKNLLFIYGDIPPEMVS	3.0	8.0	unscreened	-	4253_2:166929947-166929947 G>A_KPNSDLEAGKNLLFIYGDIPPEMVS
13:36129194-36129194 G>A	0.0	4253	MELANOMA	-	-	-	2	NBEA	NM_001204197,p.E86K|NM_015678,p.E2293K|uc010abi.3,p.E949K|ENST00000400445,p.E2293K|uc010tef.2,p.E86K|ENST00000379939,p.E2290K|ENST00000540320,p.E2293K|uc010tee.1,p.E86K|ENST00000310336,p.E2293K|ENST00000537702,p.E86K|uc010teg.1,p.E86K|uc021rid.1,p.E2293K	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon44	c.G6877A	p.E2293K	KSSNMTQRWQRREISNFEYLMFLNT	KSSNMTQRWQRRKISNFEYLMFLNT	5.0	4.0	unscreened	-	4253_13:36129194-36129194 G>A_KSSNMTQRWQRRKISNFEYLMFLNT
19:7625996-7625996 G>A	0.0	4253	MELANOMA	-	-	-	-	PNPLA6	uc002mgq.2,p.G1267R|uc010xjq.2,p.G1315R|NM_001166111,p.G1315R|ENST00000221249,p.G1267R|NM_001166112,p.G1240R|NM_006702,p.G1267R|NM_001166113,p.G1267R|ENST00000545201,p.G1240R|ENST00000600737,p.G1305R|uc010xjp.2,p.G1240R|ENST00000450331,p.G1267R|uc002mgr.2,p.G1267R|ENST00000414982,p.G1315R|NM_001166114,p.G1305R|uc002mgs.3,p.G1305R	retained_intron, protein_coding, processed_transcript	uc010xjq.2	nonsynonymous SNV	exon32	c.G3943A	p.G1315R	PPTSYVSDGCADGEESDCLTEYEED	PPTSYVSDGCADREESDCLTEYEED	9.0	8.0	unscreened	-	4253_19:7625996-7625996 G>A_PPTSYVSDGCADREESDCLTEYEED
Y:14890050-14890050 A>G	0.0	4253	MELANOMA	-	-	-	-	USP9Y	NM_004654,p.I913V|uc004fst.1,p.I913V|ENST00000338981,p.I913V	protein_coding, processed_transcript	uc004fst.1	nonsynonymous SNV	exon20	c.A2737G	p.I913V	DELDIWSHTNDTIGSVRRCIVNRIK	DELDIWSHTNDTVGSVRRCIVNRIK	8.0	10.0	unscreened	-	4253_Y:14890050-14890050 A>G_DELDIWSHTNDTVGSVRRCIVNRIK
2:239057767-239057767 G>A	0.0	4253	MELANOMA	-	-	-	-	KLHL30	ENST00000305959,p.D469N|uc002vxr.2,p.D487N|NM_198582,p.D487N|ENST00000409223,p.D487N	protein_coding	uc002vxr.2	nonsynonymous SNV	exon7	c.G1459A	p.D487N	LIGDNTKKVYVYDPGANLWQKVQSQ	LIGDNTKKVYVYNPGANLWQKVQSQ	2.0	10.0	unscreened	-	4253_2:239057767-239057767 G>A_LIGDNTKKVYVYNPGANLWQKVQSQ
12:96131781-96131781 C>T	0.0	4253	MELANOMA	-	-	-	-	NTN4	ENST00000553059,p.E243K|NM_021229,p.E243K|uc009ztf.3,p.E243K|uc001tei.3,p.E243K|ENST00000344911,p.E206K|ENST00000538383,p.E206K|ENST00000343702,p.E243K|uc009ztg.3,p.E206K	protein_coding, processed_transcript	uc009ztg.3	nonsynonymous SNV	exon3	c.G616A	p.E206K	RQSCPCQRNDLNEEPQHFTHYAIYD	RQSCPCQRNDLNKEPQHFTHYAIYD	6.0	10.0	unscreened	-	4253_12:96131781-96131781 C>T_RQSCPCQRNDLNKEPQHFTHYAIYD
7:21609900-21609900 C>T	0.0	4253	MELANOMA	-	-	-	-	DNAH11	uc031swp.1,p.R470C|NM_001277115,p.R470C|ENST00000409508,p.R470C|ENST00000328843,p.R470C	retained_intron, protein_coding, processed_transcript	uc031swp.1	nonsynonymous SNV	exon7	c.C1408T	p.R470C	HLVFCRFDKFLDRLIKIEDIFATTL	HLVFCRFDKFLDCLIKIEDIFATTL	7.0	1.0	unscreened	-	4253_7:21609900-21609900 C>T_HLVFCRFDKFLDCLIKIEDIFATTL
17:5463136-5463136 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1589018,COSM981619,COSM1589019;OCCURENCE=1(endometrium)	-	NLRP1	ENST00000354411,p.P294S|NM_033007,p.P294S|NM_033006,p.P294S|NM_033004,p.P294S|ENST00000269280,p.P294S|ENST00000262467,p.P294S|uc002gci.3,p.P294S|ENST00000572272,p.P294S|ENST00000571451,p.P294S|ENST00000577119,p.P294S|ENST00000345221,p.P294S|NM_014922,p.P294S|uc002gcl.3,p.P294S|uc002gcg.1,p.P294S|uc002gcj.3,p.P294S|uc002gch.4,p.P294S|uc010clh.3,p.P294S|uc002gck.3,p.P294S|NM_001033053,p.P294S|ENST00000544378,p.P294S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010clh.3	nonsynonymous SNV	exon5	c.C880T	p.P294S	LLLQRPHPRSQDPLVKRSWPDYVEE	LLLQRPHPRSQDSLVKRSWPDYVEE	9.0	7.0	unscreened	-	4253_17:5463136-5463136 G>A_LLLQRPHPRSQDSLVKRSWPDYVEE
19:43523120-43523120 G>A	0.0	4253	MELANOMA	-	-	-	-	PSG11	NM_002785,p.P171S|ENST00000306322,p.P49S|NM_001113410,p.P49S|uc002ovp.1,p.P49S|NM_203287,p.P49S|uc002ovo.1,p.P49S|uc002ovm.1,p.P171S|ENST00000320078,p.P171S|ENST00000401740,p.P171S|ENST00000403486,p.P49S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ovp.1	nonsynonymous SNV	exon2	c.C145T	p.P49S	REAMETVILTCNPETPDASYLWWMN	REAMETVILTCNSETPDASYLWWMN	4.0	2.0	unscreened	-	4253_19:43523120-43523120 G>A_REAMETVILTCNSETPDASYLWWMN
12:110581249-110581249 C>T	1.0	4253	MELANOMA	-	-	-	-	IFT81	ENST00000361948,p.P282S|uc001tqh.3,p.P282S|NM_001143779,p.P282S|ENST00000546374,p.P252S|NM_014055,p.P282S|ENST00000242591,p.P282S|NM_031473,p.P282S|uc001tqg.3,p.P282S|ENST00000552912,p.P282S|uc001tqi.3,p.P282S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001tqi.3	nonsynonymous SNV	exon9	c.C844T	p.P282S	IKFNLYMVTEKFPKELENKKKELHF	IKFNLYMVTEKFSKELENKKKELHF	9.0	1.0	unscreened	-	4253_12:110581249-110581249 C>T_IKFNLYMVTEKFSKELENKKKELHF
8:134057325-134057325 T>G	0.0	4253	MELANOMA	-	-	-	-	SLA	uc003ytz.3,p.K130Q|ENST00000338087,p.K130Q|NM_006748,p.K170Q|NM_001282965,p.K22Q|NM_001045556,p.K130Q|uc011ljd.2,p.K170Q|NM_001045557,p.K147Q|ENST00000427060,p.K170Q|ENST00000395352,p.K147Q|ENST00000524345,p.K22Q|ENST00000522119,p.K130Q|uc011lje.2,p.K147Q|uc011ljf.2,p.K22Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ljf.2	nonsynonymous SNV	exon5	c.A64C	p.K22Q	GFYSLSVRHRQVKHYRIFRLPNNWY	GFYSLSVRHRQVQHYRIFRLPNNWY	8.0	4.0	-	-	4253_8:134057325-134057325 T>G_GFYSLSVRHRQVQHYRIFRLPNNWY
X:57405122-57405122 G>A	0.0	4253	MELANOMA	-	-	-	-	FAAH2	uc004dvc.3,p.G261R|NM_174912,p.G261R|ENST00000374900,p.G261R	protein_coding, processed_transcript	uc004dvc.3	nonsynonymous SNV	exon6	c.G781A	p.G261R	VVPNKGQFPLAVGAQELFLCTGPMC	VVPNKGQFPLAVRAQELFLCTGPMC	5.0	10.0	unscreened	-	4253_X:57405122-57405122 G>A_VVPNKGQFPLAVRAQELFLCTGPMC
12:4626253-4626253 C>T	1.0	4253	MELANOMA	-	-	-	-	C12orf4	ENST00000261250,p.R379H|uc001qmt.3,p.R379H|ENST00000545746,p.R379H|NM_020374,p.R379H|uc001qms.3,p.R379H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qmt.3	nonsynonymous SNV	exon9	c.G1136A	p.R379H	VVQQVVLYARTQRRSKLKESLDSGN	VVQQVVLYARTQHRSKLKESLDSGN	8.0	3.0	unscreened	-	4253_12:4626253-4626253 C>T_VVQQVVLYARTQHRSKLKESLDSGN
19:22486647-22486647 G>A	1.0	4253	MELANOMA	-	-	-	-	ZNF729	NM_001242680,p.D40N|ENST00000601693,p.D40N|uc021urs.1,p.D40N|ENST00000357491,p.D40N	protein_coding	uc021urs.1	nonsynonymous SNV	exon2	c.G118A	p.D40N	QCLDTVQQNLYRDVMLENYRNLVFL	QCLDTVQQNLYRNVMLENYRNLVFL	2.0	9.0	unscreened	-	4253_19:22486647-22486647 G>A_QCLDTVQQNLYRNVMLENYRNLVFL
X:1475206-1475206 C>T	0.0	4253	MELANOMA	-	-	-	-	IL3RA	uc011mhd.3,p.R159C|NM_002183,p.R237C|NM_001267713,p.R159C|ENST00000331035,p.R237C|ENST00000381469,p.R159C|uc004cps.3,p.R237C	protein_coding	uc011mhd.3	nonsynonymous SNV	exon5	c.C475T	p.R159C	HWKMRSHFNRKFRYELQIQKRMQPV	HWKMRSHFNRKFCYELQIQKRMQPV	6.0	5.0	unscreened	-	4253_X:1475206-1475206 C>T_HWKMRSHFNRKFCYELQIQKRMQPV
6:47649587-47649587 C>T	0.0	4253	MELANOMA	-	-	-	-	GPR111	ENST00000296862,p.S431F|uc010jzj.1,p.S431F|ENST00000398742,p.S363F|uc003oyy.3,p.S363F|ENST00000467205,p.S363F|NM_153839,p.S363F|ENST00000507065,p.S363F	protein_coding, nonsense_mediated_decay	uc010jzj.1	nonsynonymous SNV	exon6	c.C1292T	p.S431F	AVCKCRPSKLFTSFSILMSPHILES	AVCKCRPSKLFTFFSILMSPHILES	2.0	3.0	unscreened	-	4253_6:47649587-47649587 C>T_AVCKCRPSKLFTFFSILMSPHILES
6:11213861-11213861 C>T	1.0	4253	MELANOMA	-	-	-	-	NEDD9	ENST00000379433,p.G38R|ENST00000504387,p.G38R|uc003mzv.2,p.G38R|NM_006403,p.G38R|NM_001142393,p.G38R|uc010joz.2,p.G38R|uc003mzx.3,p.G38R|ENST00000379446,p.G38R|NM_182966,p.G38R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010joz.2	nonsynonymous SNV	exon3	c.G112A	p.G38R	KGDILTVIEQNTGGLEGWWLCSLHG	KGDILTVIEQNTRGLEGWWLCSLHG	8.0	2.0	unscreened	-	4253_6:11213861-11213861 C>T_KGDILTVIEQNTRGLEGWWLCSLHG
20:3674144-3674144 G>A	0.0	4253	MELANOMA	-	-	-	-	SIGLEC1	NM_023068,p.P1153L|ENST00000344754,p.P1153L|ENST00000202578,p.P1153L|uc002wiz.4,p.P1153L|uc002wja.3,p.P1153L	protein_coding	uc002wja.3	nonsynonymous SNV	exon13	c.C3458T	p.P1153L	VRDATSYRCGVGPPGRAPRLSRPIT	VRDATSYRCGVGLPGRAPRLSRPIT	8.0	1.0	unscreened	-	4253_20:3674144-3674144 G>A_VRDATSYRCGVGLPGRAPRLSRPIT
6:132892264-132892264 G>A	0.0	4253	MELANOMA	-	-	-	-	TAAR6	NM_175067,p.M268I|ENST00000275198,p.M268I|uc011eck.2,p.M268I	protein_coding	uc011eck.2	nonsynonymous SNV	exon1	c.G804A	p.M268I	AAKTLGVTVVAFMISWLPYSIDSLI	AAKTLGVTVVAFIISWLPYSIDSLI	1.0	10.0	unscreened	-	4253_6:132892264-132892264 G>A_AAKTLGVTVVAFIISWLPYSIDSLI
17:63537604-63537604 G>A	1.0	4253	MELANOMA	-	-	-	1	AXIN2	ENST00000307078,p.A343V|uc010den.1,p.A343V|ENST00000375702,p.A343V|uc002jfi.3,p.A343V|uc002jfh.3,p.A343V|NM_004655,p.A343V	retained_intron, protein_coding	uc010den.1	nonsynonymous SNV	exon6	c.C1028T	p.A343V	KQLQREMHRSVKANGQVSLPHFPRT	KQLQREMHRSVKVNGQVSLPHFPRT	6.0	6.0	unscreened	-	4253_17:63537604-63537604 G>A_KQLQREMHRSVKVNGQVSLPHFPRT
4:99807624-99807624 G>A	0.0	4253	MELANOMA	-	-	-	-	EIF4E	ENST00000505992,p.P158L|uc011ceb.1,p.P158L|NM_001130679,p.P158L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ceb.1	nonsynonymous SNV	exon6	c.C473T	p.P158L	NFWPQVILPLQPPKVLELQLLCLIG	NFWPQVILPLQPLKVLELQLLCLIG	8.0	7.0	unscreened	-	4253_4:99807624-99807624 G>A_NFWPQVILPLQPLKVLELQLLCLIG
14:105413561-105413561 C>T	0.0	4253	MELANOMA	-	-	-	-	AHNAK2	NM_138420,p.E2743K|uc001ypx.2,p.E2643K|uc010axc.1,p.E2743K|ENST00000333244,p.E2743K	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.G8227A	p.E2743K	LPKLQMPSFKMPEVDLKGPQIDVKG	LPKLQMPSFKMPKVDLKGPQIDVKG	7.0	1.0	unscreened	-	4253_14:105413561-105413561 C>T_LPKLQMPSFKMPKVDLKGPQIDVKG
19:40729369-40729369 C>T	0.0	4253	MELANOMA	-	-	-	-	CNTD2	ENST00000430325,p.D200N|NM_024877,p.D200N|ENST00000513948,p.D94N|uc010xvi.2,p.D200N|ENST00000599263,p.D31N	retained_intron, protein_coding, nonsense_mediated_decay	uc010xvi.2	nonsynonymous SNV	exon4	c.G598A	p.D200N	LLRAERRILSRLDFRLHHPGPLLCL	LLRAERRILSRLNFRLHHPGPLLCL	4.0	9.0	unscreened	-	4253_19:40729369-40729369 C>T_LLRAERRILSRLNFRLHHPGPLLCL
12:49434123-49434123 A>G	0.0	4253	MELANOMA	-	-	-	1	KMT2D	uc001rta.4,p.V2477A|NM_003482,p.V2477A|ENST00000301067,p.V2477A	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon31	c.T7430C	p.V2477A	PLHKPPRPQPPEVAFKAGSLAHTSL	PLHKPPRPQPPEAAFKAGSLAHTSL	8.0	8.0	unscreened	-	4253_12:49434123-49434123 A>G_PLHKPPRPQPPEAAFKAGSLAHTSL
5:140557665-140557665 C>T	0.0	4253	MELANOMA	-	-	-	-	PCDHB8	ENST00000239444,p.S17F|NM_019120,p.S17F|uc011dai.2,p.S17F	protein_coding	uc011dai.2	nonsynonymous SNV	exon1	c.C50T	p.S17F	GKLICRQRQVLFSFLLLGLSLAGAA	GKLICRQRQVLFFFLLLGLSLAGAA	3.0	1.0	unscreened	-	4253_5:140557665-140557665 C>T_GKLICRQRQVLFFFLLLGLSLAGAA
1:237982366-237982366 C>T	1.0	4253	MELANOMA	-	-	ID=COSM906281;OCCURENCE=1(endometrium),1(large_intestine)	-	RYR2	ENST00000366574,p.R4822C|ENST00000542537,p.R4806C|uc001hyl.1,p.R4822C|uc010pyb.1,p.R255C|ENST00000360064,p.R4828C|NM_001035,p.R4822C	protein_coding, processed_transcript	uc010pyb.1	nonsynonymous SNV	exon9	c.C763T	p.R255C	LTCYMFHMYVGVRAGGGIGDEIEDP	LTCYMFHMYVGVCAGGGIGDEIEDP	5.0	8.0	unscreened	-	4253_1:237982366-237982366 C>T_LTCYMFHMYVGVCAGGGIGDEIEDP
11:70653274-70653274 G>A	0.0	4253	MELANOMA	-	-	-	-	SHANK2	ENST00000423696,p.S120L|ENST00000338508,p.S500L|ENST00000294018,p.S130L	protein_coding, processed_transcript	ENST00000423696	nonsynonymous SNV	exon3	c.C359T	p.S120L	DGKRPQPLWHVGSPFALGANKDSLS	DGKRPQPLWHVGLPFALGANKDSLS	5.0	9.0	unscreened	-	4253_11:70653274-70653274 G>A_DGKRPQPLWHVGLPFALGANKDSLS
11:46388915-46388915 C>T	1.0	4253	MELANOMA	-	-	-	-	DGKZ	NM_201533,p.S84L|ENST00000532868,p.S84L|uc010rgr.2,p.S84L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rgr.2	nonsynonymous SNV	exon2	c.C251T	p.S84L	PPPPTPGAPCSESERQIRSTVDWSS	PPPPTPGAPCSELERQIRSTVDWSS	9.0	8.0	unscreened	-	4253_11:46388915-46388915 C>T_PPPPTPGAPCSELERQIRSTVDWSS
5:40937743-40937743 G>A	0.0	4253	MELANOMA	-	-	-	-	C7	uc003jmh.3,p.G173E|ENST00000313164,p.G173E|NM_000587,p.G173E	retained_intron, protein_coding, processed_transcript	uc003jmh.3	nonsynonymous SNV	exon6	c.G518A	p.G173E	FGGQCRKVFSGDGKDFYRLSGNVLS	FGGQCRKVFSGDEKDFYRLSGNVLS	7.0	5.0	unscreened	-	4253_5:40937743-40937743 G>A_FGGQCRKVFSGDEKDFYRLSGNVLS
12:12814591-12814591 C>T	1.0	4253	MELANOMA	-	-	-	-	GPR19	ENST00000540510,p.M264I|uc001raq.2,p.M264I|ENST00000332427,p.M264I|NM_006143,p.M264I|uc001rar.3,p.M264I|uc021qvj.1,p.M264I	protein_coding, processed_transcript	uc021qvj.1	nonsynonymous SNV	exon1	c.G792A	p.M264I	RIGTDGRTVRRTMNIVPRTKVKTIK	RIGTDGRTVRRTINIVPRTKVKTIK	7.0	10.0	unscreened	-	4253_12:12814591-12814591 C>T_RIGTDGRTVRRTINIVPRTKVKTIK
10:13494541-13494541 G>A	0.0	4253	MELANOMA	-	-	-	-	BEND7	uc001imm.2,p.S342L|ENST00000341083,p.S342L|NM_152751,p.S342L	protein_coding, processed_transcript	uc001imm.2	nonsynonymous SNV	exon7	c.C1025T	p.S342L	QIKLARRRLKRGSAEIADSDERLDG	QIKLARRRLKRGLAEIADSDERLDG	7.0	9.0	unscreened	-	4253_10:13494541-13494541 G>A_QIKLARRRLKRGLAEIADSDERLDG
11:55322738-55322738 C>T	0.0	4253	MELANOMA	-	-	-	-	OR4C15	ENST00000314644,p.S319F|NM_001001920,p.S319F|uc010rig.2,p.S319F	protein_coding	uc010rig.2	nonsynonymous SNV	exon1	c.C956T	p.S319F	CIFVYTRPPSAFSLDKMAAIFYIIL	CIFVYTRPPSAFFLDKMAAIFYIIL	1.0	3.0	unscreened	-	4253_11:55322738-55322738 C>T_CIFVYTRPPSAFFLDKMAAIFYIIL
6:70070998-70070998 G>A	0.0	4253	MELANOMA	-	-	-	-	BAI3	ENST00000546190,p.R242Q|uc010kak.3,p.R1278Q|ENST00000370598,p.R1278Q|ENST00000238918,p.R484Q|uc011dxx.2,p.R484Q|uc003pev.4,p.R1278Q|NM_001704,p.R1278Q	protein_coding	uc011dxx.2	nonsynonymous SNV	exon13	c.G1451A	p.R484Q	SNPCLKKENSELRRTVYLCTDDNLR	SNPCLKKENSELQRTVYLCTDDNLR	4.0	9.0	unscreened	-	4253_6:70070998-70070998 G>A_SNPCLKKENSELQRTVYLCTDDNLR
20:34022041-34022041 C>T	0.0	4253	MELANOMA	-	-	ID=COSM459769,COSM1134552,COSM1134553;OCCURENCE=1(cervix)	-	GDF5	uc002xcj.3,p.S151L	protein_coding	uc002xcj.3	nonsynonymous SNV	exon2	c.C452T	p.S151L	LPTAASLKVLAGSLALASGQWGPPF	LPTAASLKVLAGLLALASGQWGPPF	5.0	5.0	unscreened	-	4253_20:34022041-34022041 C>T_LPTAASLKVLAGLLALASGQWGPPF
2:186670748-186670748 C>T	0.0	4253	MELANOMA	-	-	-	-	FSIP2	ENST00000343098,p.P5661L|ENST00000424728,p.P5572L|NM_173651,p.P5661L|uc002upl.3,p.P5661L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.C16982T	p.P5661L	NNNEIEKKRNLIPTDKKGKDDEIYT	NNNEIEKKRNLILTDKKGKDDEIYT	5.0	2.0	unscreened	-	4253_2:186670748-186670748 C>T_NNNEIEKKRNLILTDKKGKDDEIYT
16:67029636-67029636 C>T	0.0	4253	MELANOMA	-	-	-	-	CES4A	NM_173815,p.P55L|uc002eqv.3,p.P78L|ENST00000338718,p.P78L|ENST00000541479,p.P78L|uc010vix.2,p.P55L|ENST00000398354,p.P55L|ENST00000326686,p.P55L|ENST00000540947,p.P55L|uc002eqw.3,p.P15L|ENST00000538199,p.P18L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vix.2	nonsynonymous SNV	exon2	c.C164T	p.P55L	VGKTPIQVFLGVPFSRPPLGILRFA	VGKTPIQVFLGVLFSRPPLGILRFA	5.0	6.0	unscreened	-	4253_16:67029636-67029636 C>T_VGKTPIQVFLGVLFSRPPLGILRFA
6:25773825-25773825 G>A	0.0	4253	MELANOMA	-	-	-	-	SLC17A4	ENST00000377905,p.E304K|uc003nfe.3,p.E304K|uc010jqa.3,p.E17K|uc003nff.1,p.E65K|NM_001286121,p.E250K|NM_005495,p.E304K|ENST00000397076,p.E74K|uc003nfg.3,p.E241K	protein_coding	uc010jqa.3	nonsynonymous SNV	exon1	c.G49A	p.E17K	LPLWAILVSYFCEYWLFYTIMAYTP	LPLWAILVSYFCKYWLFYTIMAYTP	1.0	9.0	unscreened	-	4253_6:25773825-25773825 G>A_LPLWAILVSYFCKYWLFYTIMAYTP
2:229890692-229890692 C>T	0.0	4253	MELANOMA	-	-	-	-	PID1	NM_017933,p.E135K|NM_001100818,p.E104K|ENST00000409462,p.E55K|uc002vpu.4,p.E55K|uc002vpt.4,p.E104K|ENST00000392055,p.E104K|ENST00000354069,p.E137K|ENST00000392054,p.E135K|uc002vpr.4,p.E137K|uc002vps.4,p.E135K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002vpu.4	nonsynonymous SNV	exon2	c.G163A	p.E55K	AREDVFPANALLEIRPFQVWLHHLD	AREDVFPANALLKIRPFQVWLHHLD	4.0	8.0	unscreened	-	4253_2:229890692-229890692 C>T_AREDVFPANALLKIRPFQVWLHHLD
6:46800870-46800870 C>T	0.0	4253	MELANOMA	-	-	ID=COSM189752;OCCURENCE=1(large_intestine)	-	MEP1A	uc011dwh.1,p.R430C|uc011dwg.1,p.R124C|uc010jzh.1,p.R402C|NM_005588,p.R402C|ENST00000230588,p.R402C|uc011dwi.1,p.R302C	protein_coding	uc011dwi.1	nonsynonymous SNV	exon9	c.C904T	p.R302C	IAHVVLKEEQKFRYLFQGTKGDPQN	IAHVVLKEEQKFCYLFQGTKGDPQN	1.0	2.0	unscreened	-	4253_6:46800870-46800870 C>T_IAHVVLKEEQKFCYLFQGTKGDPQN
17:6526285-6526285 G>A	0.0	4253	MELANOMA	-	-	-	-	KIAA0753	ENST00000572370,p.R42C|uc010clo.3,p.R42C|NM_014804,p.R341C|uc010vte.2,p.R42C|uc002gde.4,p.R341C|ENST00000361413,p.R341C|ENST00000542606,p.R42C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vte.2	nonsynonymous SNV	exon5	c.C124T	p.R42C	LPARCKELGSLIRQLSLCSVKLDAD	LPARCKELGSLICQLSLCSVKLDAD	7.0	6.0	unscreened	-	4253_17:6526285-6526285 G>A_LPARCKELGSLICQLSLCSVKLDAD
11:46388915-46388915 C>T	1.0	4253	MELANOMA	-	-	-	-	DGKZ	uc010rgq.2,p.S84L|ENST00000318201,p.S79L|NM_001199267,p.S79L|NM_001105540,p.S268L|ENST00000454345,p.S268L|ENST00000524984,p.S45L|uc001nci.2,p.S84L|NM_201532,p.S96L|ENST00000421244,p.S79L|uc001nch.2,p.S96L|NM_001199268,p.S79L|uc009yky.1,p.S79L|uc001ncn.1,p.S268L|ENST00000456247,p.S79L|ENST00000395574,p.S45L|NM_003646,p.S79L|uc010rgs.1,p.S79L|ENST00000343674,p.S96L|ENST00000527911,p.S79L|uc001ncl.2,p.S79L|NM_001199266,p.S79L|uc001ncm.2,p.S79L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rgs.1	nonsynonymous SNV	exon2	c.C236T	p.S79L	PPPPTPGAPCSESERQIRSTVDWSE	PPPPTPGAPCSELERQIRSTVDWSE	9.0	8.0	unscreened	-	4253_11:46388915-46388915 C>T_PPPPTPGAPCSELERQIRSTVDWSE
16:89352055-89352055 T>A	1.0	4253	MELANOMA	-	-	-	-	ANKRD11	NM_001256183,p.S299C|uc002fnb.1,p.S256C|NM_001256182,p.S299C|uc002fmy.2,p.S299C|NM_013275,p.S299C|uc002fnc.2,p.S299C|uc002fmx.2,p.S299C|ENST00000378330,p.S299C|ENST00000301030,p.S299C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc002fnc.2	nonsynonymous SNV	exon9	c.A895T	p.S299C	GTYTSSEESSTESSEEEDAPSFAPS	GTYTSSEESSTECSEEEDAPSFAPS	10.0	1.0	unscreened	-	4253_16:89352055-89352055 T>A_GTYTSSEESSTECSEEEDAPSFAPS
1:173907877-173907886 AGTAACTCCT>-	1.0	4253	MELANOMA	-	-	-	-	RC3H1	uc010pmt.2,p.S1126fs|NM_001300852,p.S1116fs|ENST00000258349,p.S1125fs|uc010pms.2,p.S1116fs|ENST00000367694,p.S1117fs|NM_172071,p.S1125fs|ENST00000367696,p.S1125fs|NM_001300850,p.S1126fs|uc001gju.4,p.S1125fs|uc001gjv.3,p.S1117fs|NM_001300851,p.S1117fs	retained_intron, protein_coding	uc010pmt.2	frameshift deletion	exon19	c.3378_3387del	p.S1126fs	PEGGGDNNDSQRSGVTPSSAP	PEGGGDNNDSQRSPVLLL	6.0	7.0	unscreened	-	4253_1:173907877-173907886 AGTAACTCCT>-_PEGGGDNNDSQRSPVLLL
20:51870856-51870856 C>T	0.0	4253	MELANOMA	-	-	-	-	TSHZ2	ENST00000371497,p.L287F|NM_173485,p.L287F|uc021wex.1,p.L284F|ENST00000329613,p.L284F|ENST00000603338,p.L284F|NM_001193421,p.L284F|uc002xwo.3,p.L287F	protein_coding, processed_transcript	uc021wex.1	nonsynonymous SNV	exon2	c.C850T	p.L284F	LKCMFCGDSFDSLQDLSVHMIKTKH	LKCMFCGDSFDSFQDLSVHMIKTKH	5.0	1.0	unscreened	-	4253_20:51870856-51870856 C>T_LKCMFCGDSFDSFQDLSVHMIKTKH
1:159277598-159277598 C>T	0.0	4253	MELANOMA	-	-	ID=COSM207145;OCCURENCE=1(large_intestine)	-	FCER1A	uc001ftq.3,p.A217V|ENST00000368115,p.A217V|ENST00000368114,p.A184V|NM_002001,p.A217V	protein_coding	uc001ftq.3	nonsynonymous SNV	exon6	c.C650T	p.A217V	QFFIPLLVVILFAVDTGLFISTQQQ	QFFIPLLVVILFVVDTGLFISTQQQ	4.0	5.0	unscreened	-	4253_1:159277598-159277598 C>T_QFFIPLLVVILFVVDTGLFISTQQQ
14:81609886-81609886 A>G	1.0	4253	MELANOMA	-	-	-	1	TSHR	NM_000369,p.N495S|uc001xvd.1,p.N495S|ENST00000541158,p.N495S|ENST00000298171,p.N495S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xvd.1	nonsynonymous SNV	exon10	c.A1484G	p.N495S	NHAIDWQTGPGCNTAGFFTVFASEL	NHAIDWQTGPGCSTAGFFTVFASEL	2.0	9.0	unscreened	-	4253_14:81609886-81609886 A>G_NHAIDWQTGPGCSTAGFFTVFASEL
12:6135200-6135200 C>T	0.0	4253	MELANOMA	-	-	-	-	VWF	NM_000552,p.G994S|uc001qnn.1,p.G994S|ENST00000261405,p.G994S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001qnn.1	nonsynonymous SNV	exon23	c.G2980A	p.G994S	VVLKQTYQEKVCGLCGNFDGIQNND	VVLKQTYQEKVCSLCGNFDGIQNND	7.0	8.0	unscreened	-	4253_12:6135200-6135200 C>T_VVLKQTYQEKVCSLCGNFDGIQNND
6:143081084-143081084 C>T	1.0	4253	MELANOMA	-	-	-	-	HIVEP2	ENST00000367604,p.R2114K|uc003qjd.3,p.R2114K|ENST00000367603,p.R2114K|NM_006734,p.R2114K|ENST00000012134,p.R2114K	protein_coding, processed_transcript	uc003qjd.3	nonsynonymous SNV	exon9	c.G6341A	p.R2114K	QRDVSPRRHLSPRRPVSPGKDITAR	QRDVSPRRHLSPKRPVSPGKDITAR	5.0	10.0	unscreened	-	4253_6:143081084-143081084 C>T_QRDVSPRRHLSPKRPVSPGKDITAR
4:55979539-55979539 C>T	0.0	4253	MELANOMA	-	-	-	1	KDR	NM_002253,p.G303E|uc003hat.1,p.G303E|ENST00000263923,p.G303E|uc003has.3,p.G303E|uc011bzx.2,p.G303E	retained_intron, protein_coding	uc011bzx.2	nonsynonymous SNV	exon7	c.G908A	p.G303E	TLTIDGVTRSDQGLYTCAASSGLMT	TLTIDGVTRSDQELYTCAASSGLMT	6.0	6.0	unscreened	-	4253_4:55979539-55979539 C>T_TLTIDGVTRSDQELYTCAASSGLMT
12:4479543-4479543 G>A	0.0	4253	MELANOMA	-	-	-	-	FGF23	uc001qmq.1,p.P241L|ENST00000237837,p.P241L|NM_020638,p.P241L	protein_coding	uc001qmq.1	nonsynonymous SNV	exon3	c.C722T	p.P241L	GGRVNTHAGGTGPEGCRPFAKFI	GGRVNTHAGGTGLEGCRPFAKFI	5.0	2.0	unscreened	-	4253_12:4479543-4479543 G>A_GGRVNTHAGGTGLEGCRPFAKFI
8:140630715-140630715 G>A	0.0	4253	MELANOMA	0.0005	-	-	-	KCNK9	uc003yvf.1,p.S304L|uc003yvg.1,p.S304L|NM_001282534,p.S304L|ENST00000303015,p.S304L|ENST00000520439,p.S304L|ENST00000522317,p.S304L	protein_coding, processed_transcript	uc003yvg.1	nonsynonymous SNV	exon2	c.C911T	p.S304L	DLQSVCSCTCYRSQDYGGRSVAPQN	DLQSVCSCTCYRLQDYGGRSVAPQN	5.0	6.0	unscreened	-	4253_8:140630715-140630715 G>A_DLQSVCSCTCYRLQDYGGRSVAPQN
8:24350629-24350629 C>T	0.0	4253	MELANOMA	-	-	-	-	ADAM7	uc003xeb.3,p.H577Y|ENST00000520720,p.H349Y|ENST00000380789,p.H577Y|ENST00000175238,p.H577Y|NM_003817,p.H577Y|uc003xec.3,p.H349Y	protein_coding	uc003xec.3	nonsynonymous SNV	exon10	c.C1045T	p.H349Y	ELSSLLGEDKTYHLKDPQKNATVKC	ELSSLLGEDKTYYLKDPQKNATVKC	1.0	4.0	unscreened	-	4253_8:24350629-24350629 C>T_ELSSLLGEDKTYYLKDPQKNATVKC
3:30769763-30769763 C>T	0.0	4253	MELANOMA	-	-	ID=COSM583212,COSM1143231;OCCURENCE=1(lung)	-	GADL1	ENST00000282538,p.E513K|uc003cep.2,p.E513K|NM_207359,p.E513K	protein_coding, processed_transcript	uc003cep.2	nonsynonymous SNV	exon15	c.G1537A	p.E513K	QVSREDMDFLLDEIDLLGKDM	QVSREDMDFLLDKIDLLGKDM	1.0	9.0	unscreened	-	4253_3:30769763-30769763 C>T_QVSREDMDFLLDKIDLLGKDM
17:7909882-7909882 G>A	0.0	4253	MELANOMA	-	-	-	-	GUCY2D	NM_000180,p.A410T|ENST00000254854,p.A410T|uc002gjt.2,p.A410T	retained_intron, protein_coding	uc002gjt.2	nonsynonymous SNV	exon4	c.G1228A	p.A410T	EEPPFVLLDTDAAGDRLFATYMLDP	EEPPFVLLDTDATGDRLFATYMLDP	3.0	5.0	unscreened	-	4253_17:7909882-7909882 G>A_EEPPFVLLDTDATGDRLFATYMLDP
7:88423505-88423505 G>A	0.0	4253	MELANOMA	-	-	-	-	C7orf62	uc003ujv.3,p.S251L|ENST00000297203,p.S251L|NM_152706,p.S251L|uc022ahc.1,p.S251L	protein_coding	uc022ahc.1	nonsynonymous SNV	exon1	c.C752T	p.S251L	ITLDSEVVWPAPSRF	ITLDSEVVWPAPLRF	1.0	5.0	unscreened	-	4253_7:88423505-88423505 G>A_ITLDSEVVWPAPLRF
3:48626191-48626191 C>T	0.0	4253	MELANOMA	-	-	-	-	COL7A1	uc003ctz.2,p.G824E|ENST00000454817,p.G824E|NM_000094,p.G824E|ENST00000328333,p.G824E	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon19	c.G2471A	p.G824E	SEGGPMRHQILPGNTDSAEIRGLEG	SEGGPMRHQILPENTDSAEIRGLEG	9.0	1.0	unscreened	-	4253_3:48626191-48626191 C>T_SEGGPMRHQILPENTDSAEIRGLEG
17:39190595-39190595 C>A	0.0	4253	MELANOMA	-	-	-	-	KRTAP1-3	uc002hvv.3,p.C160F|NM_030966,p.C160F|ENST00000344363,p.C160F	protein_coding	uc002hvv.3	nonsynonymous SNV	exon1	c.G479T	p.C160F	YCGQSCCRPVCCCYSCEPTC	YCGQSCCRPVCCFYSCEPTC	1.0	1.0	unscreened	-	4253_17:39190595-39190595 C>A_YCGQSCCRPVCCFYSCEPTC
8:39467040-39467040 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1686060;OCCURENCE=2(skin)	-	ADAM18	ENST00000520772,p.P102S|uc003xni.3,p.P102S|NM_001190956,p.P102S|uc010lwx.3,p.P102S|ENST00000520087,p.P102S|ENST00000265707,p.P102S|NM_014237,p.P102S|ENST00000379866,p.P102S|uc003xnh.3,p.P102S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lwx.3	nonsynonymous SNV	exon5	c.C304T	p.P102S	MHCHYQGYAAEFPNSFVTLSICSGL	MHCHYQGYAAEFSNSFVTLSICSGL	2.0	6.0	unscreened	-	4253_8:39467040-39467040 C>T_MHCHYQGYAAEFSNSFVTLSICSGL
16:72991400-72991400 G>A	0.0	4253	MELANOMA	0.0005	-	-	1	ZFHX3	uc002fck.3,p.S882L|NM_006885,p.S882L|ENST00000268489,p.S882L	retained_intron, protein_coding	uc002fck.3	nonsynonymous SNV	exon2	c.C2645T	p.S882L	MNLPNLKMDSAASDAQFMMSGFQLD	MNLPNLKMDSAALDAQFMMSGFQLD	7.0	1.0	unscreened	-	4253_16:72991400-72991400 G>A_MNLPNLKMDSAALDAQFMMSGFQLD
12:58001070-58001070 C>T	1.0	4253	MELANOMA	-	-	-	-	DTX3	NM_001286245,p.P145S|uc001sow.1,p.P142S|uc001sov.1,p.P135S|uc001sox.1,p.P135S|ENST00000549583,p.P145S|ENST00000548478,p.P135S|NM_001286246,p.P142S|ENST00000337737,p.P142S|ENST00000548198,p.P142S|NM_178502,p.P142S|uc001soy.1,p.P135S|ENST00000548804,p.P142S|ENST00000551632,p.P145S	protein_coding	uc001soy.1	nonsynonymous SNV	exon3	c.C403T	p.P135S	LLPPGARGLPPPPPPLPPPLPPRLR	LLPPGARGLPPPSPPLPPPLPPRLR	9.0	2.0	unscreened	-	4253_12:58001070-58001070 C>T_LLPPGARGLPPPSPPLPPPLPPRLR
2:189931135-189931135 G>A	1.0	4253	MELANOMA	-	-	-	-	COL5A2	uc010frx.3,p.P91L	retained_intron, protein_coding	uc010frx.3	nonsynonymous SNV	exon7	c.C272T	p.P91L	TGPMGDPGTVGPPGPVGERGAPGNR	TGPMGDPGTVGPLGPVGERGAPGNR	10.0	2.0	unscreened	-	4253_2:189931135-189931135 G>A_TGPMGDPGTVGPLGPVGERGAPGNR
12:125587238-125587238 G>A	0.0	4253	MELANOMA	-	-	-	-	AACS	ENST00000441247,p.R14Q	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000441247	nonsynonymous SNV	exon1	c.G41A	p.R14Q	MTFSSCFQGVLDRFSQIQPKLIFSV	MTFSSCFQGVLDQFSQIQPKLIFSV	8.0	5.0	unscreened	-	4253_12:125587238-125587238 G>A_MTFSSCFQGVLDQFSQIQPKLIFSV
11:123814283-123814283 C>T	0.0	4253	MELANOMA	-	-	-	-	OR6T1	NM_001005187,p.G88E|ENST00000321252,p.G88E|uc010sab.2,p.G88E	protein_coding	uc010sab.2	nonsynonymous SNV	exon1	c.G263A	p.G88E	VVVPKMLVVILTGDHTISFVSCIIQ	VVVPKMLVVILTEDHTISFVSCIIQ	2.0	8.0	unscreened	-	4253_11:123814283-123814283 C>T_VVVPKMLVVILTEDHTISFVSCIIQ
1:12186029-12186029 T>C	0.0	4253	MELANOMA	-	-	-	-	TNFRSF8	ENST00000417814,p.I281T|ENST00000263932,p.I392T|uc010obc.2,p.I281T|uc001atq.3,p.I392T|NM_001281430,p.I281T|NM_001243,p.I392T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010obc.2	nonsynonymous SNV	exon10	c.T842C	p.I281T	PVLDAGPVLFWVILVLVVVVGSSAF	PVLDAGPVLFWVTLVLVVVVGSSAF	4.0	3.0	unscreened	-	4253_1:12186029-12186029 T>C_PVLDAGPVLFWVTLVLVVVVGSSAF
6:32012926-32012926 C>T	0.0	4253	MELANOMA	-	-	-	-	TNXB	NM_032470,p.G24E|uc003nzh.1,p.G62E|ENST00000375247,p.G3593E|uc003nzl.2,p.G3593E|ENST00000375244,p.G3595E|ENST00000451343,p.G24E|uc003nzg.1,p.G24E|NM_019105,p.G3593E	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon32	c.G10778A	p.G3593E	FDSFVVQYEDTNGQPQALLVDGDQS	FDSFVVQYEDTNEQPQALLVDGDQS	7.0	3.0	unscreened	-	4253_6:32012926-32012926 C>T_FDSFVVQYEDTNEQPQALLVDGDQS
15:76630762-76630762 C>T	0.0	4253	MELANOMA	-	-	-	-	ISL2	ENST00000290759,p.R140C|uc002bbw.1,p.R140C|NM_145805,p.R140C	protein_coding, nonsense_mediated_decay	uc002bbw.1	nonsynonymous SNV	exon3	c.C418T	p.R140C	DEFSLREHELLCRADHGLLLERAAA	DEFSLREHELLCCADHGLLLERAAA	3.0	1.0	unscreened	-	4253_15:76630762-76630762 C>T_DEFSLREHELLCCADHGLLLERAAA
17:79425380-79425380 C>T	1.0	4253	MELANOMA	-	-	-	-	BAHCC1	uc002kaf.2,p.A1682V	retained_intron, protein_coding, processed_transcript	uc002kaf.2	nonsynonymous SNV	exon17	c.C5045T	p.A1682V	AKKKKERQGLLGACRLSSPESEVKI	AKKKKERQGLLGVCRLSSPESEVKI	6.0	7.0	unscreened	-	4253_17:79425380-79425380 C>T_AKKKKERQGLLGVCRLSSPESEVKI
14:72925062-72925062 G>A	0.0	4253	MELANOMA	-	-	-	-	RGS6	NM_001204418,p.D107N|uc021rvx.1,p.D107N|ENST00000355512,p.D107N|uc021rwa.1,p.D107N|uc010ttn.2,p.D107N|uc021rvy.1,p.D107N|NM_001204421,p.D107N|NM_001204420,p.D107N|ENST00000434263,p.D38N|uc021rvv.1,p.D72N|NM_004296,p.D107N|NM_001204422,p.D107N|uc001xna.4,p.D107N|ENST00000553525,p.D107N|NM_001204417,p.D107N|ENST00000554474,p.D107N|ENST00000556437,p.D107N|ENST00000553530,p.D107N|uc001xmy.4,p.D107N|NM_001204419,p.D107N|NM_001204416,p.D107N|ENST00000407322,p.D107N|NM_001204423,p.D72N|ENST00000402788,p.D107N|ENST00000343854,p.D107N|NM_001204424,p.D107N|uc001xmx.4,p.D107N|ENST00000555571,p.D107N|ENST00000404301,p.D107N|uc021rwb.1,p.D107N|ENST00000406236,p.D107N|uc021rvw.1,p.D107N|uc010ttp.1,p.D38N|uc021rvz.1,p.D107N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rwb.1	nonsynonymous SNV	exon5	c.G319A	p.D107N	FPISDHVLTMKDDGTFYRFQAPYFW	FPISDHVLTMKDNGTFYRFQAPYFW	4.0	9.0	unscreened	-	4253_14:72925062-72925062 G>A_FPISDHVLTMKDNGTFYRFQAPYFW
6:39040771-39040771 G>A	0.0	4253	MELANOMA	-	-	-	-	GLP1R	uc003ooj.4,p.D215N|ENST00000373256,p.D215N|NM_002062,p.D215N	protein_coding	uc003ooj.4	nonsynonymous SNV	exon6	c.G643A	p.D215N	WMYSTAAQQHQWDGLLSYQDSLSCR	WMYSTAAQQHQWNGLLSYQDSLSCR	2.0	3.0	unscreened	-	4253_6:39040771-39040771 G>A_WMYSTAAQQHQWNGLLSYQDSLSCR
15:50550632-50550632 G>A	0.0	4253	MELANOMA	-	-	-	-	HDC	uc001zxz.3,p.A96V|ENST00000543581,p.A96V|NM_002112,p.A96V|ENST00000559683,p.A90V|ENST00000267845,p.A96V|uc010uff.2,p.A96V|uc010beu.2,p.A96V	retained_intron, protein_coding	uc010uff.2	nonsynonymous SNV	exon3	c.C287T	p.A96V	LTSWPSLLGDMLADAINCLGFTWAS	LTSWPSLLGDMLVDAINCLGFTWAS	3.0	9.0	unscreened	-	4253_15:50550632-50550632 G>A_LTSWPSLLGDMLVDAINCLGFTWAS
3:7188344-7188344 C>T	0.0	4253	MELANOMA	-	-	-	-	GRM7	ENST00000357716,p.S242F|ENST00000403881,p.S242F|uc003bqm.2,p.S242F|ENST00000467425,p.S242F|NM_181874,p.S242F|ENST00000486284,p.S242F|ENST00000389336,p.S242F|ENST00000389335,p.S242F|uc010hcg.2,p.S242F|NM_000844,p.S242F|uc003bql.2,p.S242F|ENST00000402647,p.S242F|ENST00000440923,p.S242F|ENST00000448328,p.S34F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hcg.2	nonsynonymous SNV	exon2	c.C725T	p.S242F	YGEKGVESFTQISKEAGGLCIAQSV	YGEKGVESFTQIFKEAGGLCIAQSV	4.0	9.0	unscreened	-	4253_3:7188344-7188344 C>T_YGEKGVESFTQIFKEAGGLCIAQSV
5:140563062-140563062 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1062714;OCCURENCE=1(endometrium),1(large_intestine)	-	PCDHB16	NM_020957,p.E310K|uc003liv.3,p.E310K|ENST00000361016,p.E310K	protein_coding	uc003liv.3	nonsynonymous SNV	exon1	c.G928A	p.E310K	TGEVRLRKQVDFEMVTSYEVRIKAT	TGEVRLRKQVDFKMVTSYEVRIKAT	5.0	5.0	unscreened	-	4253_5:140563062-140563062 G>A_TGEVRLRKQVDFKMVTSYEVRIKAT
11:4566953-4566953 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1675740;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	OR52M1	ENST00000360213,p.S178F|uc010qyf.2,p.S178F|NM_001004137,p.S178F	protein_coding	uc010qyf.2	nonsynonymous SNV	exon1	c.C533T	p.S178F	RLRLPLYKTHVISHSYCEHMAVVAL	RLRLPLYKTHVIFHSYCEHMAVVAL	1.0	8.0	unscreened	-	4253_11:4566953-4566953 C>T_RLRLPLYKTHVIFHSYCEHMAVVAL
6:160679420-160679420 C>T	0.0	4253	MELANOMA	-	-	-	-	SLC22A2	NM_003058,p.D124N|uc003qth.2,p.D124N|uc003qtf.3,p.D124N|ENST00000366952,p.D103N|ENST00000366953,p.D124N	protein_coding, processed_transcript	uc003qth.2	nonsynonymous SNV	exon1	c.G370A	p.D124N	TNRSRLPLGPCRDGWVYETPGSSIV	TNRSRLPLGPCRNGWVYETPGSSIV	2.0	10.0	unscreened	-	4253_6:160679420-160679420 C>T_TNRSRLPLGPCRNGWVYETPGSSIV
19:55144535-55144535 A>T	0.0	4253	MELANOMA	-	-	-	-	LILRB1	NM_001081638,p.T343S|NM_001278398,p.T343S|ENST00000324602,p.T343S|ENST00000396321,p.T343S|ENST00000396332,p.T343S|ENST00000418536,p.T343S|ENST00000427581,p.T379S|uc002qgm.3,p.T343S|NM_006669,p.T343S|ENST00000396315,p.T343S|ENST00000396327,p.T343S|ENST00000421584,p.T343S|ENST00000396317,p.T343S|ENST00000396331,p.T343S|ENST00000448689,p.T343S|NM_001081637,p.T343S|NM_001081639,p.T343S|uc010erq.3,p.T343S|NM_001278399,p.T343S|uc002qgj.3,p.T343S|uc002qgl.3,p.T343S|uc002qgk.3,p.T343S|ENST00000434867,p.T343S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010erq.3	nonsynonymous SNV	exon6	c.A1027T	p.T343S	QPGPTVASGENVTLLCQSQGWMQTF	QPGPTVASGENVSLLCQSQGWMQTF	7.0	7.0	unscreened	-	4253_19:55144535-55144535 A>T_QPGPTVASGENVSLLCQSQGWMQTF
2:112578859-112578859 G>A	0.0	4253	MELANOMA	-	-	-	-	ANAPC1	NM_022662,p.P1055S|ENST00000341068,p.P1055S|uc002thi.3,p.P1055S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002thi.3	nonsynonymous SNV	exon26	c.C3163T	p.P1055S	SAHPVRVNVVQYPELSDHEFIEEKE	SAHPVRVNVVQYSELSDHEFIEEKE	8.0	3.0	unscreened	-	4253_2:112578859-112578859 G>A_SAHPVRVNVVQYSELSDHEFIEEKE
2:167298015-167298015 C>T	0.0	4253	MELANOMA	0.0014	-	-	-	SCN7A	uc002udu.2,p.R683Q|ENST00000419992,p.R683Q|NM_002976,p.R683Q|ENST00000409855,p.R683Q|ENST00000424326,p.R683Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002udu.2	nonsynonymous SNV	exon14	c.G2048A	p.R683Q	MHDFFHSFLNVFRILCGEWVETLWD	MHDFFHSFLNVFQILCGEWVETLWD	5.0	9.0	unscreened	-	4253_2:167298015-167298015 C>T_MHDFFHSFLNVFQILCGEWVETLWD
20:40944562-40944562 G>A	0.0	4253	MELANOMA	-	-	-	1	PTPRT	ENST00000356100,p.S647L|NM_133170,p.S647L|ENST00000373193,p.S647L|uc010ggj.3,p.S647L|NM_007050,p.S647L|uc002xkg.3,p.S647L|ENST00000373190,p.S647L|ENST00000373187,p.S647L|ENST00000373198,p.S647L|ENST00000373184,p.S647L|ENST00000373201,p.S647L	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon12	c.C1940T	p.S647L	KSRRAADIIECFSVPVSYRNASSLD	KSRRAADIIECFLVPVSYRNASSLD	1.0	4.0	unscreened	-	4253_20:40944562-40944562 G>A_KSRRAADIIECFLVPVSYRNASSLD
7:47933508-47933508 G>A	0.0	4253	MELANOMA	-	-	-	-	PKD1L1	ENST00000289672,p.S807F|uc003tny.2,p.S807F|NM_138295,p.S807F	retained_intron, protein_coding, processed_transcript	uc003tny.2	nonsynonymous SNV	exon15	c.C2420T	p.S807F	TTSSPIVLRGTQSFDPDDPGATLRY	TTSSPIVLRGTQFFDPDDPGATLRY	6.0	10.0	unscreened	-	4253_7:47933508-47933508 G>A_TTSSPIVLRGTQFFDPDDPGATLRY
14:56116531-56116531 T>C	1.0	4253	MELANOMA	-	-	-	1	KTN1	NM_004986,p.V802A|ENST00000438792,p.V802A|NM_001079522,p.V802A|uc001xcb.3,p.V802A|ENST00000554890,p.V88A|uc001xce.3,p.V802A|uc001xcd.3,p.V802A|ENST00000413890,p.V802A|NM_001079521,p.V802A|ENST00000459737,p.V802A|ENST00000553360,p.V82A|uc010trb.2,p.V802A|uc010aoq.3,p.V97A|ENST00000395309,p.V802A|ENST00000416613,p.V802A|ENST00000395308,p.V802A|uc001xcf.2,p.V802A|ENST00000395311,p.V802A|ENST00000554507,p.V97A|uc001xcc.3,p.V802A|NM_001271014,p.V802A|ENST00000395314,p.V802A	retained_intron, protein_coding, nonsense_mediated_decay	uc010trb.2	nonsynonymous SNV	exon23	c.T2405C	p.V802A	VSFASLVEELKKVIHEKDGKIKSVE	VSFASLVEELKKAIHEKDGKIKSVE	10.0	9.0	unscreened	-	4253_14:56116531-56116531 T>C_VSFASLVEELKKAIHEKDGKIKSVE
10:27335394-27335394 A>T	1.0	4253	MELANOMA	-	-	-	-	ANKRD26	NM_014915,p.S625T|uc009xku.1,p.S625T|uc001itg.2,p.S311T|NM_001256053,p.S624T|uc001ith.2,p.S624T|ENST00000436985,p.S641T|ENST00000376070,p.S182T|ENST00000376087,p.S625T	protein_coding, processed_transcript	uc009xku.1	nonsynonymous SNV	exon18	c.T1873A	p.S625T	KEVKSTEKEKRTSKESVNSPVFGKA	KEVKSTEKEKRTTKESVNSPVFGKA	8.0	10.0	unscreened	-	4253_10:27335394-27335394 A>T_KEVKSTEKEKRTTKESVNSPVFGKA
7:82581834-82581834 C>T	0.0	4253	MELANOMA	-	-	-	-	PCLO	ENST00000423517,p.S2812N|uc003uhx.2,p.S2812N|ENST00000333891,p.S2812N|uc003uhv.2,p.S2812N|NM_014510,p.S2812N|NM_033026,p.S2812N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G8435A	p.S2812N	CTASASYTTGTESLVGAEHAMTTPL	CTASASYTTGTENLVGAEHAMTTPL	7.0	5.0	unscreened	-	4253_7:82581834-82581834 C>T_CTASASYTTGTENLVGAEHAMTTPL
6:7565616-7565616 C>T	0.0	4253	MELANOMA	-	-	-	-	DSP	NM_001008844,p.H268Y|uc003mxq.1,p.H268Y|ENST00000379802,p.H268Y|uc003mxp.1,p.H268Y|NM_004415,p.H268Y|ENST00000418664,p.H268Y|uc021yle.1,p.H268Y	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon7	c.C802T	p.H268Y	ENLLKASFERMDHLRQLQNIIQATS	ENLLKASFERMDYLRQLQNIIQATS	4.0	2.0	unscreened	-	4253_6:7565616-7565616 C>T_ENLLKASFERMDYLRQLQNIIQATS
15:76630760-76630762 GCC>-	0.0	4253	MELANOMA	-	-	-	-	ISL2	uc002bbw.1,p.139_140del|NM_145805,p.139_140del|ENST00000290759,p.139_140del	protein_coding, nonsense_mediated_decay	uc002bbw.1	nonframeshift deletion	exon3	c.416_418del	p.139_140del	GDEFSLREHELLCRADHGLLLERAA	GDEFSLREHELLCADHGLLLERAAA	3.0	9.0	unscreened	-	4253_15:76630760-76630762 GCC>-_GDEFSLREHELLCADHGLLLERAAA
2:208986564-208986564 C>T	0.0	4253	MELANOMA	-	-	-	-	CRYGD	uc021vvu.1,p.E120K|ENST00000264376,p.E120K|NM_006891,p.E120K|uc002vcn.4,p.E120K	protein_coding	uc021vvu.1	nonsynonymous SNV	exon3	c.G358A	p.E120K	DCSCLQDRFRFNEIHSLNVLEGSWV	DCSCLQDRFRFNKIHSLNVLEGSWV	1.0	8.0	unscreened	-	4253_2:208986564-208986564 C>T_DCSCLQDRFRFNKIHSLNVLEGSWV
13:110853848-110853848 C>T	1.0	4253	MELANOMA	-	-	-	-	COL4A1	uc001vqw.4,p.G341R|ENST00000543140,p.G341R|ENST00000375820,p.G341R|NM_001845,p.G341R	protein_coding, processed_transcript	uc001vqw.4	nonsynonymous SNV	exon19	c.G1021A	p.G341R	GPPGIVIGTGPLGEKGERGYPGTPG	GPPGIVIGTGPLREKGERGYPGTPG	9.0	4.0	unscreened	-	4253_13:110853848-110853848 C>T_GPPGIVIGTGPLREKGERGYPGTPG
6:167708171-167708171 A>G	0.0	4253	MELANOMA	-	-	-	-	UNC93A	NM_001143947,p.N85S|ENST00000366829,p.N85S|ENST00000230256,p.N85S|uc003qvr.3,p.N85S|ENST00000503433,p.N85S|NM_018974,p.N85S|uc003qvq.3,p.N85S	retained_intron, protein_coding, processed_transcript	uc003qvr.3	nonsynonymous SNV	exon2	c.A254G	p.N85S	LSMCGYVAFSVGNFFASWYTLIPTS	LSMCGYVAFSVGSFFASWYTLIPTS	1.0	10.0	unscreened	-	4253_6:167708171-167708171 A>G_LSMCGYVAFSVGSFFASWYTLIPTS
5:13868086-13868086 G>A	0.0	4253	MELANOMA	-	-	-	-	DNAH5	uc003jfd.2,p.L1284F|NM_001369,p.L1284F|ENST00000265104,p.L1284F	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon25	c.C3850T	p.L1284F	FQVGPIEESYALLNRYGLLIAREEI	FQVGPIEESYALFNRYGLLIAREEI	3.0	7.0	unscreened	-	4253_5:13868086-13868086 G>A_FQVGPIEESYALFNRYGLLIAREEI
13:32911793-32911793 C>T	0.0	4253	MELANOMA	-	-	-	1	BRCA2	NM_000059,p.H1101Y|ENST00000544455,p.H1101Y|ENST00000380152,p.H1101Y|uc001uub.1,p.H1101Y	retained_intron, protein_coding, nonsense_mediated_decay	uc001uub.1	nonsynonymous SNV	exon11	c.C3301T	p.H1101Y	QMLFSKQDFNSNHNLTPSQKAEITE	QMLFSKQDFNSNYNLTPSQKAEITE	7.0	5.0	unscreened	-	4253_13:32911793-32911793 C>T_QMLFSKQDFNSNYNLTPSQKAEITE
19:47124748-47124748 C>T	1.0	4253	MELANOMA	-	-	-	-	PTGIR	ENST00000594275,p.G74E|ENST00000291294,p.G317E|ENST00000597185,p.G46E|NM_000960,p.G317E|uc002pex.3,p.G317E|ENST00000598865,p.G105E	retained_intron, protein_coding	uc002pex.3	nonsynonymous SNV	exon3	c.G950A	p.G317E	LWVCCLCLGPAHGDSQTPLSQLASG	LWVCCLCLGPAHEDSQTPLSQLASG	6.0	8.0	unscreened	-	4253_19:47124748-47124748 C>T_LWVCCLCLGPAHEDSQTPLSQLASG
X:27839605-27839605 C>T	0.0	4253	MELANOMA	-	-	-	-	MAGEB10	uc004dbw.3,p.P61L|NM_182506,p.P61L|uc022bud.1,p.P61L|ENST00000356790,p.P61L	protein_coding	uc022bud.1	nonsynonymous SNV	exon1	c.C182T	p.P61L	VFQSSLDGASNNPHGLREAQSTSTS	VFQSSLDGASNNLHGLREAQSTSTS	1.0	10.0	unscreened	-	4253_X:27839605-27839605 C>T_VFQSSLDGASNNLHGLREAQSTSTS
2:169791754-169791754 G>A	0.0	4253	MELANOMA	-	-	-	-	ABCB11	ENST00000263817,p.S999F|uc010zdb.1,p.S475F|uc010zda.1,p.S441F|NM_003742,p.S999F|uc002ueo.1,p.S999F	retained_intron, protein_coding, nonsense_mediated_decay	uc010zdb.1	nonsynonymous SNV	exon10	c.C1424T	p.S475F	FAQCIMFIANSASYRYGGYLISNEG	FAQCIMFIANSAFYRYGGYLISNEG	1.0	8.0	unscreened	-	4253_2:169791754-169791754 G>A_FAQCIMFIANSAFYRYGGYLISNEG
11:120989299-120989299 C>T	0.0	4253	MELANOMA	-	-	-	-	TECTA	NM_005422,p.P359S|uc010rzo.2,p.P359S|ENST00000392793,p.P359S|ENST00000264037,p.P359S	protein_coding, processed_transcript	uc010rzo.2	nonsynonymous SNV	exon6	c.C1075T	p.P359S	LLARQCLQTSSLPFFSVEAKNEHRR	LLARQCLQTSSLSFFSVEAKNEHRR	5.0	2.0	unscreened	-	4253_11:120989299-120989299 C>T_LLARQCLQTSSLSFFSVEAKNEHRR
2:108475744-108475744 A>T	0.0	4253	MELANOMA	-	-	-	-	RGPD4	uc010ywk.2,p.D484V|ENST00000354986,p.D484V|NM_182588,p.D484V|ENST00000408999,p.D484V	protein_coding	uc010ywk.2	nonsynonymous SNV	exon10	c.A1451T	p.D484V	LETNAPESICILDLEVFLLGVVYTS	LETNAPESICILVLEVFLLGVVYTS	3.0	1.0	unscreened	-	4253_2:108475744-108475744 A>T_LETNAPESICILVLEVFLLGVVYTS
10:50532520-50532520 C>A	0.0	4253	MELANOMA	-	-	-	-	C10orf71	ENST00000374144,p.H644N|uc021pqb.1,p.H644N|ENST00000323868,p.H644N|uc021pqa.2,p.H644N|NM_001135196,p.H644N	protein_coding, processed_transcript	uc021pqb.1	nonsynonymous SNV	exon1	c.C1930A	p.H644N	WCPDSREHRPRKHLSLRLCNRDPEP	WCPDSREHRPRKNLSLRLCNRDPEP	1.0	9.0	unscreened	-	4253_10:50532520-50532520 C>A_WCPDSREHRPRKNLSLRLCNRDPEP
18:44104486-44104486 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1711273,COSM1711272;OCCURENCE=1(skin)	-	LOXHD1	uc010xcw.1,p.D1607N|NM_144612,p.D1607N|ENST00000582408,p.D496N|ENST00000441551,p.D1401N|uc010xcv.2,p.D540N|uc002lce.4,p.D400N|ENST00000579038,p.D400N|ENST00000536736,p.D1607N|ENST00000398722,p.D1329N|NM_001145472,p.D496N|uc002lcg.1,p.D1329N|ENST00000300591,p.D496N|uc002lcf.4,p.D496N|ENST00000441893,p.D540N	retained_intron, protein_coding, nonsense_mediated_decay	uc010xcw.1	nonsynonymous SNV	exon31	c.G4819A	p.D1607N	DFWEIALSSKMADVDISTVTGPMAD	DFWEIALSSKMANVDISTVTGPMAD	3.0	2.0	unscreened	-	4253_18:44104486-44104486 C>T_DFWEIALSSKMANVDISTVTGPMAD
2:21233206-21233206 C>T	0.0	4253	MELANOMA	-	-	-	-	APOB	uc002red.3,p.M2178I|NM_000384,p.M2178I|ENST00000233242,p.M2178I	protein_coding	uc002red.3	nonsynonymous SNV	exon26	c.G6534A	p.M2178I	NFNEKLSQLQTYMIQFDQYIKDSYD	NFNEKLSQLQTYIIQFDQYIKDSYD	1.0	1.0	unscreened	-	4253_2:21233206-21233206 C>T_NFNEKLSQLQTYIIQFDQYIKDSYD
14:77492590-77492590 G>C	1.0	4253	MELANOMA	-	-	-	-	IRF2BPL	uc001xsy.4,p.R516G|NM_024496,p.R516G|ENST00000238647,p.R516G	protein_coding	uc001xsy.4	nonsynonymous SNV	exon1	c.C1546G	p.R516G	CPMLPTALVSLSRAPSAPPGTGALP	CPMLPTALVSLSGAPSAPPGTGALP	8.0	1.0	unscreened	-	4253_14:77492590-77492590 G>C_CPMLPTALVSLSGAPSAPPGTGALP
6:29627281-29627281 C>T	0.0	4253	MELANOMA	-	-	-	-	MOG	NM_002433,p.P92S|NM_206810,p.P92S|uc011dlt.2,p.P22S|uc003nnk.3,p.P92S|NM_206811,p.P92S|uc003nng.3,p.P92S|uc003nnf.3,p.P92S|ENST00000431798,p.P92S|uc003nnj.3,p.P92S|NM_206812,p.P92S|uc003nnh.3,p.P92S|NM_206809,p.P92S|uc003nni.3,p.P92S|ENST00000494692,p.P92S|ENST00000376898,p.P92S|ENST00000416766,p.P92S|NM_001008229,p.P92S|ENST00000533330,p.P92S|uc003nne.3,p.P92S|uc003qzk.2,p.P92S|ENST00000396704,p.P92S|ENST00000376917,p.P92S|ENST00000376891,p.P92S|NM_001008228,p.P92S|ENST00000396701,p.P92S|uc003nmy.2,p.P92S|ENST00000376902,p.P92S|ENST00000376894,p.P92S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dlt.2	nonsynonymous SNV	exon3	c.C64T	p.P22S	YRNGKDQDGDQAPEYRGRTELLKDA	YRNGKDQDGDQASEYRGRTELLKDA	6.0	6.0	unscreened	-	4253_6:29627281-29627281 C>T_YRNGKDQDGDQASEYRGRTELLKDA
8:119391834-119391834 C>T	0.0	4253	MELANOMA	-	-	-	-	SAMD12	uc003yom.2,p.R143Q|ENST00000314727,p.R143Q|NM_207506,p.R143Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yom.2	nonsynonymous SNV	exon4	c.G428A	p.R143Q	QHILQQVLQLKVREEVRNLQLLTQG	QHILQQVLQLKVQEEVRNLQLLTQG	6.0	8.0	unscreened	-	4253_8:119391834-119391834 C>T_QHILQQVLQLKVQEEVRNLQLLTQG
2:152483593-152483593 C>T	0.0	4253	MELANOMA	-	-	-	-	NEB	ENST00000427231,p.D3424N|uc021vrd.1,p.D3181N|uc031rpp.1,p.D3424N|NM_001164508,p.D3424N|ENST00000603639,p.D3424N|ENST00000409198,p.D3181N|ENST00000604864,p.D3424N|NM_001271208,p.D3424N|NM_001164507,p.D3424N|uc021vrc.1,p.D3424N|ENST00000397345,p.D3424N|uc021vrb.1,p.D3181N|ENST00000172853,p.D3181N|uc002txu.3,p.D3424N	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon70	c.G10270A	p.D3424N	EILSDNIYRQPPDKLKFTSVTDSLE	EILSDNIYRQPPNKLKFTSVTDSLE	6.0	8.0	unscreened	-	4253_2:152483593-152483593 C>T_EILSDNIYRQPPNKLKFTSVTDSLE
8:119391834-119391834 C>T	0.0	4253	MELANOMA	-	-	-	-	SAMD12	ENST00000524796,p.R135Q|ENST00000409003,p.R143Q|uc010mda.1,p.R143Q|NM_001101676,p.R143Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010mda.1	nonsynonymous SNV	exon4	c.G428A	p.R143Q	QHILQQVLQLKVREEVRNLQLLTQA	QHILQQVLQLKVQEEVRNLQLLTQA	6.0	8.0	unscreened	-	4253_8:119391834-119391834 C>T_QHILQQVLQLKVQEEVRNLQLLTQA
7:5401531-5401531 G>A	1.0	4253	MELANOMA	-	-	-	-	TNRC18	ENST00000399537,p.S1510F|NM_001080495,p.S1510F|ENST00000430969,p.S1510F|uc003soi.4,p.S1510F	retained_intron, protein_coding	uc003soi.4	nonsynonymous SNV	exon13	c.C4529T	p.S1510F	QRELVKLQRRRDSEDRREEPHRSLA	QRELVKLQRRRDFEDRREEPHRSLA	8.0	1.0	unscreened	-	4253_7:5401531-5401531 G>A_QRELVKLQRRRDFEDRREEPHRSLA
4:126241975-126241975 C>T	0.0	4253	MELANOMA	-	-	-	1	FAT4	NM_001291285,p.T1470I|ENST00000394329,p.T1470I|NM_024582,p.T1470I|NM_001291303,p.T1470I|uc003ifj.4,p.T1470I	retained_intron, protein_coding	uc003ifj.4	nonsynonymous SNV	exon1	c.C4409T	p.T1470I	TIIQQMPRGNHFTIDEVKGTIYTNA	TIIQQMPRGNHFIIDEVKGTIYTNA	4.0	6.0	unscreened	-	4253_4:126241975-126241975 C>T_TIIQQMPRGNHFIIDEVKGTIYTNA
12:18847951-18847951 T>G	0.0	4253	MELANOMA	-	-	-	-	PLCZ1	ENST00000539875,p.N259H|uc001rdu.2,p.N234H|uc001rdw.5,p.N193H|NM_033123,p.N452H|ENST00000435379,p.N257H|ENST00000541695,p.N315H|ENST00000447925,p.N450H|ENST00000266505,p.N452H|ENST00000538330,p.N234H|uc021qvx.2,p.N452H|uc001rdv.5,p.N348H|ENST00000540421,p.N187H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qvx.2	nonsynonymous SNV	exon12	c.A1354C	p.N452H	LPMDLQNGKFLDNGGSGYILKPHFL	LPMDLQNGKFLDHGGSGYILKPHFL	1.0	10.0	unscreened	-	4253_12:18847951-18847951 T>G_LPMDLQNGKFLDHGGSGYILKPHFL
15:51223077-51223077 C>T	0.0	4253	MELANOMA	-	-	-	-	AP4E1	NM_007347,p.P260S|uc001zyx.2,p.P260S|ENST00000561393,p.P185S|ENST00000560508,p.P185S|ENST00000561441,p.P260S|ENST00000261842,p.P260S|uc021skz.1,p.P185S|uc010ufi.2,p.P260S|ENST00000558439,p.P260S|NM_001252127,p.P185S	protein_coding, processed_transcript, nonsense_mediated_decay	uc021skz.1	nonsynonymous SNV	exon7	c.C553T	p.P185S	VTILKQVVGGKLPVEFNYHSVPAPW	VTILKQVVGGKLSVEFNYHSVPAPW	5.0	10.0	unscreened	-	4253_15:51223077-51223077 C>T_VTILKQVVGGKLSVEFNYHSVPAPW
17:2996169-2996169 C>T	0.0	4253	MELANOMA	-	-	-	-	OR1D2	uc010vrb.2,p.G41E|NM_002548,p.G41E|ENST00000331459,p.G41E	protein_coding	uc010vrb.2	nonsynonymous SNV	exon1	c.G122A	p.G41E	WMFLSMYLVTVVGNVLIILAISSDS	WMFLSMYLVTVVENVLIILAISSDS	2.0	4.0	unscreened	-	4253_17:2996169-2996169 C>T_WMFLSMYLVTVVENVLIILAISSDS
7:129909512-129909512 G>A	0.0	4253	MELANOMA	-	-	-	-	CPA2	ENST00000222481,p.D53N|NM_001869,p.D53N|uc003vpq.3,p.D53N|uc011kpc.1,p.D53N|ENST00000416698,p.D51N	retained_intron, protein_coding, nonsense_mediated_decay	uc011kpc.1	nonsynonymous SNV	exon3	c.G157A	p.D53N	LLQLEAQEHLQLDFWKSPTTPGETA	LLQLEAQEHLQLNFWKSPTTPGETA	6.0	4.0	unscreened	-	4253_7:129909512-129909512 G>A_LLQLEAQEHLQLNFWKSPTTPGETA
4:162307339-162307339 C>T	0.0	4253	MELANOMA	-	-	-	-	FSTL5	uc003iqi.4,p.D701N|NM_001128427,p.D701N|ENST00000427802,p.D692N|uc010iqv.4,p.D692N|uc003iqh.4,p.D702N|NM_020116,p.D702N|ENST00000536695,p.D701N|ENST00000379164,p.D701N|ENST00000306100,p.D702N|NM_001128428,p.D692N	protein_coding, processed_transcript	uc010iqv.4	nonsynonymous SNV	exon15	c.G2074A	p.D692N	NSDVTGTPYVSPDGHYLVSINDVKG	NSDVTGTPYVSPNGHYLVSINDVKG	2.0	1.0	unscreened	-	4253_4:162307339-162307339 C>T_NSDVTGTPYVSPNGHYLVSINDVKG
14:99183532-99183532 C>T	0.0	4253	MELANOMA	-	-	ID=COSM355766;OCCURENCE=1(lung)	-	C14orf177	uc001yfz.2,p.S100L|ENST00000325812,p.S100L|NM_182560,p.S100L	protein_coding, processed_transcript	uc001yfz.2	nonsynonymous SNV	exon4	c.C299T	p.S100L	SPGSCNHQIMSASTISAFCATPRFK	SPGSCNHQIMSALTISAFCATPRFK	1.0	1.0	unscreened	-	4253_14:99183532-99183532 C>T_SPGSCNHQIMSALTISAFCATPRFK
16:88495533-88495533 G>A	0.0	4253	MELANOMA	-	-	-	-	ZNF469	ENST00000565624,p.G552E|ENST00000437464,p.G552E|uc002fku.2,p.G552E|NM_001127464,p.G552E	protein_coding	uc002fku.2	nonsynonymous SNV	exon1	c.G1655A	p.G552E	SQGGSPALFTYNGMTDPGAQPLFFG	SQGGSPALFTYNEMTDPGAQPLFFG	5.0	4.0	unscreened	-	4253_16:88495533-88495533 G>A_SQGGSPALFTYNEMTDPGAQPLFFG
X:102339797-102339797 C>T	0.0	4253	MELANOMA	-	-	-	-	NXF3	NM_022052,p.V15I|uc011mrw.1,p.V15I|uc004eju.3,p.V15I|ENST00000395065,p.V15I	protein_coding, processed_transcript	uc011mrw.1	nonsynonymous SNV	exon2	c.G43A	p.V15I	LPSGHTTGHTDQVVQRRARCWDIYQ	LPSGHTTGHTDQIVQRRARCWDIYQ	6.0	10.0	unscreened	-	4253_X:102339797-102339797 C>T_LPSGHTTGHTDQIVQRRARCWDIYQ
2:71892420-71892420 C>T	0.0	4253	MELANOMA	-	-	-	-	DYSF	uc010fem.3,p.S1751F|ENST00000410041,p.S1747F|uc010feo.3,p.S1761F|uc010fek.3,p.S1747F|NM_001130979,p.S1760F|NM_001130985,p.S1747F|NM_001130982,p.S1761F|NM_001130981,p.S1767F|uc010fee.3,p.S1750F|uc002sie.3,p.S1729F|NM_003494,p.S1729F|ENST00000409744,p.S1737F|ENST00000409651,p.S1761F|uc010feg.3,p.S1760F|uc010feh.3,p.S1736F|uc002sif.3,p.S1730F|uc010fej.3,p.S1737F|NM_001130986,p.S1716F|ENST00000409762,p.S1746F|NM_001130976,p.S1715F|ENST00000409582,p.S1767F|uc010fei.3,p.S1746F|ENST00000429174,p.S1750F|NM_001130980,p.S1746F|ENST00000410020,p.S1768F|NM_001130983,p.S1751F|NM_001130455,p.S1730F|uc010yqz.2,p.S490F|uc002sig.4,p.S1715F|ENST00000409366,p.S1751F|ENST00000413539,p.S1760F|NM_001130978,p.S1750F|uc010yqy.2,p.S610F|NM_001130984,p.S1737F|uc010fen.3,p.S1768F|uc010fef.3,p.S1767F|ENST00000258104,p.S1729F|NM_001130987,p.S1768F|NM_001130977,p.S1736F|uc010fel.3,p.S1716F|ENST00000394120,p.S1730F	protein_coding, processed_transcript	uc010yqz.2	nonsynonymous SNV	exon13	c.C1469T	p.S490F	RTDRVMFQDKEYSIEEIEAGRIPNP	RTDRVMFQDKEYFIEEIEAGRIPNP	7.0	8.0	unscreened	-	4253_2:71892420-71892420 C>T_RTDRVMFQDKEYFIEEIEAGRIPNP
11:7981483-7981483 C>T	0.0	4253	MELANOMA	-	-	-	-	NLRP10	uc001mfv.1,p.R559K|ENST00000328600,p.R559K|NM_176821,p.R559K	protein_coding	uc001mfv.1	nonsynonymous SNV	exon2	c.G1676A	p.R559K	HFKEQMESMKHNRTWDLEFSLYEAK	HFKEQMESMKHNKTWDLEFSLYEAK	1.0	2.0	unscreened	-	4253_11:7981483-7981483 C>T_HFKEQMESMKHNKTWDLEFSLYEAK
11:120186091-120186091 G>T	0.0	4253	MELANOMA	-	-	-	-	POU2F3	NM_001244682,p.G366C|uc021qrk.1,p.G366C|ENST00000543440,p.G364C|NM_014352,p.G364C|ENST00000260264,p.G366C|uc010rzk.2,p.G318C|uc010rzl.2,p.G294C|uc001pxe.1,p.G149C|uc001pxc.3,p.G364C	retained_intron, protein_coding	uc021qrk.1	nonsynonymous SNV	exon11	c.G1096T	p.G366C	YNSRLVSPSGSLGPLSVPPVHSTMP	YNSRLVSPSGSLCPLSVPPVHSTMP	4.0	1.0	unscreened	-	4253_11:120186091-120186091 G>T_YNSRLVSPSGSLCPLSVPPVHSTMP
11:120186091-120186091 G>T	0.0	4253	MELANOMA	-	-	-	-	POU2F3	ENST00000532663,p.G101C	retained_intron, protein_coding	ENST00000532663	nonsynonymous SNV	exon3	c.G301T	p.G101C	KRFQDVSPSGSLGPLSVPPVHSTMP	KRFQDVSPSGSLCPLSVPPVHSTMP	4.0	1.0	unscreened	-	4253_11:120186091-120186091 G>T_KRFQDVSPSGSLCPLSVPPVHSTMP
7:141899757-141899757 G>A	0.0	4253	MELANOMA	-	-	-	-	LOC93432	NM_001293626,p.G1709E|ENST00000477922,p.G1709E	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon45	c.G5126A	p.G1709E	NGTAEGQVFWDDGQSIDTYENGNYF	NGTAEGQVFWDDEQSIDTYENGNYF	2.0	1.0	unscreened	-	4253_7:141899757-141899757 G>A_NGTAEGQVFWDDEQSIDTYENGNYF
2:80529644-80529644 G>A	0.0	4253	MELANOMA	-	-	ID=COSM177096,COSM177095;OCCURENCE=1(large_intestine)	-	LRRTM1	ENST00000417012,p.A434V|ENST00000409148,p.A434V|ENST00000433224,p.A434V|uc021vjt.1,p.A434V|ENST00000295057,p.A434V|NM_178839,p.A434V|uc002sok.1,p.A434V	protein_coding, nonsense_mediated_decay	uc021vjt.1	nonsynonymous SNV	exon1	c.C1301T	p.A434V	AVQIHKVVTGTMALIFSFLIVVLVL	AVQIHKVVTGTMVLIFSFLIVVLVL	3.0	1.0	unscreened	-	4253_2:80529644-80529644 G>A_AVQIHKVVTGTMVLIFSFLIVVLVL
11:64453278-64453278 C>G	0.0	4253	MELANOMA	-	-	-	-	NRXN2	ENST00000265459,p.G331A|NM_015080,p.G331A|ENST00000377551,p.G331A|ENST00000442300,p.G102A|ENST00000409571,p.G331A|uc021qkw.1,p.G331A|uc021qkx.1,p.G307A|uc001oas.3,p.G307A|NM_138732,p.G307A|ENST00000377559,p.G307A	retained_intron, protein_coding, processed_transcript	uc021qkx.1	nonsynonymous SNV	exon5	c.G920C	p.G307A	RTLQRNGLMLHTGKSADYVNLSLKS	RTLQRNGLMLHTAKSADYVNLSLKS	7.0	2.0	unscreened	-	4253_11:64453278-64453278 C>G_RTLQRNGLMLHTAKSADYVNLSLKS
11:123909561-123909561 C>T	0.0	4253	MELANOMA	-	-	-	-	OR10G7	uc001pzq.1,p.D50N|ENST00000330487,p.D50N|NM_001004463,p.D50N	protein_coding	uc001pzq.1	nonsynonymous SNV	exon1	c.G148A	p.D50N	LGNLLILLVIRVDSHLHTPMYYFLT	LGNLLILLVIRVNSHLHTPMYYFLT	2.0	2.0	unscreened	-	4253_11:123909561-123909561 C>T_LGNLLILLVIRVNSHLHTPMYYFLT
12:655854-655854 C>T	0.0	4253	MELANOMA	-	-	-	-	B4GALNT3	NM_173593,p.R228W|ENST00000266383,p.R228W|uc001qij.1,p.R130W|uc001qii.1,p.R228W|ENST00000322843,p.R130W	retained_intron, protein_coding, processed_transcript	uc001qij.1	nonsynonymous SNV	exon5	c.C388T	p.R130W	KEWTAPGEFGKFRSQISKPVSLSAS	KEWTAPGEFGKFWSQISKPVSLSAS	6.0	10.0	unscreened	-	4253_12:655854-655854 C>T_KEWTAPGEFGKFWSQISKPVSLSAS
7:27204833-27204833 C>T	0.0	4253	MELANOMA	-	-	-	1	HOXA9	ENST00000343483,p.V82M|NM_152739,p.V82M|ENST00000396345,p.V82M|uc003syt.3,p.V82M	protein_coding, processed_transcript	uc003syt.3	nonsynonymous SNV	exon1	c.G244A	p.V82M	VHAAGANAVPAAVYHHHHHHPYVHP	VHAAGANAVPAAMYHHHHHHPYVHP	2.0	1.0	unscreened	-	4253_7:27204833-27204833 C>T_VHAAGANAVPAAMYHHHHHHPYVHP
12:55968400-55968400 G>A	0.0	4253	MELANOMA	-	-	-	-	OR2AP1	NM_001258285,p.E68K|ENST00000321688,p.E68K|uc031qhr.1,p.E68K	protein_coding	uc031qhr.1	nonsynonymous SNV	exon1	c.G202A	p.E68K	PMYFFLRNFSFLEISFTNIFIPRVL	PMYFFLRNFSFLKISFTNIFIPRVL	1.0	9.0	unscreened	-	4253_12:55968400-55968400 G>A_PMYFFLRNFSFLKISFTNIFIPRVL
16:74748130-74748130 G>T	0.0	4253	MELANOMA	-	-	-	-	FA2H	ENST00000219368,p.F359L|ENST00000544337,p.F146L|uc002fde.2,p.F359L|uc002fdd.2,p.F132L|NM_024306,p.F359L	retained_intron, protein_coding, nonsense_mediated_decay	uc002fde.2	nonsynonymous SNV	exon7	c.C1077A	p.F359L	GFGISTKLWDYCFHTLTPEKPHLKT	GFGISTKLWDYCLHTLTPEKPHLKT	1.0	6.0	unscreened	-	4253_16:74748130-74748130 G>T_GFGISTKLWDYCLHTLTPEKPHLKT
6:105239450-105239450 G>A	0.0	4253	MELANOMA	-	-	-	-	HACE1	ENST00000262903,p.P335S|NM_020771,p.P335S|uc003pqu.1,p.P335S|uc010kcz.1,p.P335S|ENST00000369125,p.P335S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kcz.1	nonsynonymous SNV	exon11	c.C1003T	p.P335S	IVRMFCHVFRIGPSSPSNGIDMGYN	IVRMFCHVFRIGSSSPSNGIDMGYN	6.0	1.0	unscreened	-	4253_6:105239450-105239450 G>A_IVRMFCHVFRIGSSSPSNGIDMGYN
12:113874597-113874597 C>A	1.0	4253	MELANOMA	-	-	-	-	SDSL	ENST00000551760,p.A31D|NM_138432,p.A238D|uc001tvi.3,p.A238D|ENST00000403593,p.A238D|uc009zwh.3,p.A238D|ENST00000345635,p.A238D	protein_coding	uc009zwh.3	nonsynonymous SNV	exon7	c.C713A	p.A238D	AKSLGAKTVAARALECMQVCKIHSE	AKSLGAKTVAARDLECMQVCKIHSE	9.0	3.0	unscreened	-	4253_12:113874597-113874597 C>A_AKSLGAKTVAARDLECMQVCKIHSE
21:31654577-31654577 G>A	0.0	4253	MELANOMA	-	-	-	-	KRTAP24-1	uc002ynv.3,p.S225F|ENST00000340345,p.S225F|NM_001085455,p.S225F	protein_coding	uc002ynv.3	nonsynonymous SNV	exon1	c.C674T	p.S225F	YRPTSCRPLSYLSRSFRSLSYIPST	YRPTSCRPLSYLFRSFRSLSYIPST	2.0	2.0	unscreened	-	4253_21:31654577-31654577 G>A_YRPTSCRPLSYLFRSFRSLSYIPST
3:129290110-129290110 G>A	1.0	4253	MELANOMA	-	-	-	-	PLXND1	NM_015103,p.P1125S|ENST00000393239,p.P1125S|uc003emx.2,p.P1125S|ENST00000324093,p.P1125S	retained_intron, protein_coding, nonsense_mediated_decay	uc003emx.2	nonsynonymous SNV	exon18	c.C3373T	p.P1125S	LCKVLNSTLITCPSPGALSNASAPV	LCKVLNSTLITCSSPGALSNASAPV	10.0	8.0	unscreened	-	4253_3:129290110-129290110 G>A_LCKVLNSTLITCSSPGALSNASAPV
10:51464747-51464747 C>T	1.0	4253	MELANOMA	-	-	-	-	AGAP7P	uc001jio.4,p.R570Q|ENST00000374095,p.R570Q|NM_001077685,p.R570Q	protein_coding	uc001jio.4	nonsynonymous SNV	exon7	c.G1709A	p.R570Q	PCTELSLGQQLLRATADEDLQTAIL	PCTELSLGQQLLQATADEDLQTAIL	6.0	1.0	unscreened	-	4253_10:51464747-51464747 C>T_PCTELSLGQQLLQATADEDLQTAIL
1:75175931-75175931 C>T	1.0	4253	MELANOMA	-	-	-	-	CRYZ	NM_001130042,p.V161I|uc001dgm.3,p.V24I|ENST00000417775,p.V161I|ENST00000370872,p.V24I|NM_001134759,p.V24I|ENST00000340866,p.V161I|uc001dgk.3,p.V161I|ENST00000370870,p.V161I|uc001dgl.3,p.V161I|NM_001130043,p.V161I|uc001dgj.3,p.V161I|ENST00000441120,p.V161I|NM_001889,p.V161I|ENST00000370871,p.V161I	protein_coding, processed_transcript	uc001dgm.3	nonsynonymous SNV	exon4	c.G70A	p.V24I	GESVLVHGASGGVGLAACQIARAYG	GESVLVHGASGGIGLAACQIARAYG	7.0	6.0	unscreened	-	4253_1:75175931-75175931 C>T_GESVLVHGASGGIGLAACQIARAYG
2:166848851-166848851 C>T	0.0	4253	MELANOMA	-	-	-	-	SCN1A	NM_006920,p.R1634Q|ENST00000409050,p.R1617Q|ENST00000423058,p.R1645Q|ENST00000375405,p.R1634Q|NM_001165963,p.R1645Q|ENST00000303395,p.R1645Q|NM_001202435,p.R1645Q|uc010fpk.3,p.R1617Q|uc021vsb.1,p.R1634Q|uc002udo.4,p.R1645Q|NM_001165964,p.R1617Q	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon26	c.G4901A	p.R1634Q	TLFRVIRLARIGRILRLIKGAKGIR	TLFRVIRLARIGQILRLIKGAKGIR	3.0	8.0	unscreened	-	4253_2:166848851-166848851 C>T_TLFRVIRLARIGQILRLIKGAKGIR
16:812700-812700 G>A	0.0	4253	MELANOMA	-	-	ID=COSM3421188,COSM3421187;OCCURENCE=1(large_intestine)	-	MSLN	NM_001177355,p.R7Q|uc002cjt.1,p.R7Q|uc010brd.1,p.R7Q|uc002cju.1,p.R7Q|uc002cjw.2,p.R7Q|ENST00000566549,p.R7Q|ENST00000563941,p.R7Q|ENST00000563651,p.R7Q|NM_005823,p.R7Q|ENST00000545450,p.R7Q|ENST00000382862,p.R7Q|ENST00000569566,p.R7Q|NM_013404,p.R7Q	protein_coding	uc010brd.1	nonsynonymous SNV	exon2	c.G20A	p.R7Q	MALPTARPLLGSCGTPALG	MALPTAQPLLGSCGTPALG	5.0	9.0	unscreened	-	4253_16:812700-812700 G>A_MALPTAQPLLGSCGTPALG
6:158497800-158497800 C>T	0.0	4253	MELANOMA	-	-	-	-	SYNJ2	NM_001178088,p.P575L|uc003qqw.2,p.P812L|ENST00000367121,p.P812L|uc003qra.2,p.P155L|uc003qqz.2,p.P429L|ENST00000355585,p.P812L|uc003qqx.2,p.P812L|NM_003898,p.P812L|ENST00000367122,p.P812L|uc003qqy.2,p.P575L	protein_coding, nonsense_mediated_decay	uc003qra.2	nonsynonymous SNV	exon4	c.C464T	p.P155L	WTDRVLWWRKKHPFDKTAGELNLLD	WTDRVLWWRKKHLFDKTAGELNLLD	5.0	10.0	unscreened	-	4253_6:158497800-158497800 C>T_WTDRVLWWRKKHLFDKTAGELNLLD
7:87175262-87175262 C>T	0.0	4253	MELANOMA	0.0005	-	-	-	ABCB1	NM_000927,p.D602N|ENST00000543898,p.D538N|uc011khc.2,p.D538N|ENST00000265724,p.D602N|uc003uiz.2,p.D602N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011khc.2	nonsynonymous SNV	exon13	c.G1612A	p.D538N	STVRNADVIAGFDDGVIVEKGNHDE	STVRNADVIAGFNDGVIVEKGNHDE	6.0	5.0	unscreened	-	4253_7:87175262-87175262 C>T_STVRNADVIAGFNDGVIVEKGNHDE
3:108690227-108690227 G>A	0.0	4253	MELANOMA	-	-	-	-	MORC1	uc003dxl.3,p.P834S|ENST00000232603,p.P834S|ENST00000483760,p.P813S|uc011bhn.2,p.P813S|NM_014429,p.P834S	protein_coding	uc011bhn.2	nonsynonymous SNV	exon24	c.C2437T	p.P813S	KSKLREILLYFFPEHQLPSELEEPA	KSKLREILLYFFSEHQLPSELEEPA	3.0	8.0	unscreened	-	4253_3:108690227-108690227 G>A_KSKLREILLYFFSEHQLPSELEEPA
2:188216649-188216649 C>T	0.0	4253	MELANOMA	-	-	-	-	CALCRL	uc002upv.5,p.E390K|uc010frt.4,p.E390K|NM_001271751,p.E390K|ENST00000410068,p.E390K|ENST00000392370,p.E390K|NM_005795,p.E390K|ENST00000409998,p.E390K	retained_intron, protein_coding, processed_transcript	uc010frt.4	nonsynonymous SNV	exon13	c.G1168A	p.E390K	LLVSTIFCFFNGEVQAILRRNWNQY	LLVSTIFCFFNGKVQAILRRNWNQY	6.0	4.0	unscreened	-	4253_2:188216649-188216649 C>T_LLVSTIFCFFNGKVQAILRRNWNQY
2:119604182-119604182 C>T	0.0	4253	MELANOMA	-	-	-	-	EN1	ENST00000295206,p.A188T|uc002tlm.3,p.A188T|NM_001426,p.A188T	protein_coding, processed_transcript	uc002tlm.3	nonsynonymous SNV	exon1	c.G562A	p.A188T	NCGPPDGSQPAAAGAGASKAGNPAA	NCGPPDGSQPAATGAGASKAGNPAA	6.0	3.0	unscreened	-	4253_2:119604182-119604182 C>T_NCGPPDGSQPAATGAGASKAGNPAA
17:60501597-60501597 C>T	1.0	4253	MELANOMA	-	-	-	-	METTL2A	uc002izv.2,p.S43L|ENST00000311506,p.S43L|NM_181725,p.S43L	retained_intron, protein_coding	uc002izv.2	nonsynonymous SNV	exon2	c.C128T	p.S43L	VFHHNAWDNVEWSEEQAAAAERKVQ	VFHHNAWDNVEWLEEQAAAAERKVQ	8.0	5.0	unscreened	-	4253_17:60501597-60501597 C>T_VFHHNAWDNVEWLEEQAAAAERKVQ
3:108076972-108076972 G>A	0.0	4253	MELANOMA	-	-	-	-	HHLA2	NM_001282557,p.E323K|ENST00000467562,p.E259K|uc010hpu.3,p.E323K|ENST00000491820,p.E323K|ENST00000357759,p.E323K|uc011bhl.2,p.E259K|NM_001282558,p.E323K|uc003dwz.3,p.E323K|NM_001282559,p.E259K|uc003dwy.4,p.E323K|NM_007072,p.E323K|ENST00000489514,p.E323K|NM_001282556,p.E323K|ENST00000467761,p.E323K	protein_coding	uc011bhl.2	nonsynonymous SNV	exon7	c.G775A	p.E259K	DSGEYLCNISSDEYTLLTIHTVHVE	DSGEYLCNISSDKYTLLTIHTVHVE	2.0	9.0	unscreened	-	4253_3:108076972-108076972 G>A_DSGEYLCNISSDKYTLLTIHTVHVE
9:138557722-138557722 A>T	0.0	4253	MELANOMA	-	-	-	-	LCN9	uc004cgk.2,p.K164M|NM_001001676,p.K164M|uc031tfr.1,p.K164M|ENST00000277526,p.K164M	retained_intron, protein_coding, processed_transcript	uc031tfr.1	nonsynonymous SNV	exon6	c.A491T	p.K164M	IIDLTNKDPCYSKHYRSPPRPPMRW	IIDLTNKDPCYSMHYRSPPRPPMRW	1.0	10.0	unscreened	-	4253_9:138557722-138557722 A>T_IIDLTNKDPCYSMHYRSPPRPPMRW
6:41707559-41707559 G>A	0.0	4253	MELANOMA	-	-	-	-	PGC	NM_002630,p.A298V|ENST00000373025,p.A298V|uc003ora.2,p.A298V	protein_coding	uc003ora.2	nonsynonymous SNV	exon7	c.C893T	p.A298V	QQYMSALLQATGAQEDEYGQFLVNC	QQYMSALLQATGVQEDEYGQFLVNC	4.0	3.0	unscreened	-	4253_6:41707559-41707559 G>A_QQYMSALLQATGVQEDEYGQFLVNC
13:61986485-61986485 A>T	0.0	4253	MELANOMA	-	-	-	-	PCDH20	ENST00000409204,p.S583T|uc010thj.2,p.S583T|uc001vid.4,p.S583T|NM_022843,p.S583T|ENST00000409186,p.S583T	protein_coding, processed_transcript	uc010thj.2	nonsynonymous SNV	exon5	c.T1747A	p.S583T	SYFLGPDAPSYFSLDSVTGILTVST	SYFLGPDAPSYFTLDSVTGILTVST	2.0	3.0	unscreened	-	4253_13:61986485-61986485 A>T_SYFLGPDAPSYFTLDSVTGILTVST
X:5821284-5821284 C>T	1.0	4253	MELANOMA	-	-	-	-	NLGN4X	uc010ndj.3,p.E479K|uc004crp.3,p.E499K|NM_181332,p.E479K|ENST00000538097,p.E479K|ENST00000381093,p.E499K|NM_020742,p.E479K|ENST00000381092,p.E479K|uc010ndh.3,p.E479K|uc004crq.3,p.E479K|uc004crr.3,p.E479K|NM_001282145,p.E479K|ENST00000275857,p.E479K|ENST00000381095,p.E479K|NM_001282146,p.E479K|uc010ndi.3,p.E516K	protein_coding, processed_transcript	uc010ndj.3	nonsynonymous SNV	exon6	c.G1435A	p.E479K	TYFYAFYHHCQSEMKPSWADSAHGD	TYFYAFYHHCQSKMKPSWADSAHGD	7.0	10.0	unscreened	-	4253_X:5821284-5821284 C>T_TYFYAFYHHCQSKMKPSWADSAHGD
1:162351984-162351984 C>T	0.0	4253	MELANOMA	-	-	-	-	C1orf226	uc010pkt.1,p.P141L|uc001gby.2,p.P98L|NM_001135240,p.P141L|ENST00000426197,p.P141L|ENST00000420220,p.P98L|NM_001085375,p.P98L|ENST00000458626,p.P98L	protein_coding	uc010pkt.1	nonsynonymous SNV	exon2	c.C422T	p.P141L	AGAQLASGTDAAPEAWLEDERSVLQ	AGAQLASGTDAALEAWLEDERSVLQ	5.0	7.0	unscreened	-	4253_1:162351984-162351984 C>T_AGAQLASGTDAALEAWLEDERSVLQ
1:78432630-78432630 C>T	1.0	4253	MELANOMA	-	-	-	1	FUBP1	uc001dii.3,p.R118K|uc010orm.2,p.R139K|ENST00000421641,p.R138K|ENST00000370768,p.R118K|ENST00000436586,p.R139K|NM_003902,p.R118K|ENST00000294623,p.R117K|ENST00000370767,p.R118K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010orm.2	nonsynonymous SNV	exon7	c.G416A	p.R139K	KVPDGMVGFIIGRGGEQISRIQQES	KVPDGMVGFIIGKGGEQISRIQQES	10.0	10.0	unscreened	-	4253_1:78432630-78432630 C>T_KVPDGMVGFIIGKGGEQISRIQQES
8:133141732-133141732 T>G	0.0	4253	MELANOMA	-	-	-	-	KCNQ3	uc003yti.3,p.E679A|ENST00000521134,p.E679A|NM_001204824,p.E679A|uc003ytj.3,p.E799A|uc010mdt.3,p.E787A|ENST00000519445,p.E787A|ENST00000388996,p.E799A|NM_004519,p.E799A	retained_intron, protein_coding	uc010mdt.3	nonsynonymous SNV	exon15	c.A2360C	p.E787A	DTPLSLMSVNHEELERSPSGFSISQ	DTPLSLMSVNHEALERSPSGFSISQ	3.0	4.0	unscreened	-	4253_8:133141732-133141732 T>G_DTPLSLMSVNHEALERSPSGFSISQ
19:22155814-22155814 A>T	0.0	4253	MELANOMA	-	-	-	-	ZNF208	uc021urr.1,p.F674L|NM_007153,p.F674L|ENST00000397126,p.F674L	protein_coding	uc021urr.1	nonsynonymous SNV	exon4	c.T2022A	p.F674L	EKPYKCKECGKAFSKFSILTKHKVI	EKPYKCKECGKALSKFSILTKHKVI	7.0	6.0	unscreened	-	4253_19:22155814-22155814 A>T_EKPYKCKECGKALSKFSILTKHKVI
2:189931135-189931135 G>A	1.0	4253	MELANOMA	-	-	-	-	COL5A2	uc002uqk.3,p.P515L|ENST00000374866,p.P515L|NM_000393,p.P515L	retained_intron, protein_coding	uc002uqk.3	nonsynonymous SNV	exon23	c.C1544T	p.P515L	RGPRGDPGTVGPPGPVGERGAPGNR	RGPRGDPGTVGPLGPVGERGAPGNR	10.0	2.0	unscreened	-	4253_2:189931135-189931135 G>A_RGPRGDPGTVGPLGPVGERGAPGNR
15:22368652-22368652 T>A	0.0	4253	MELANOMA	-	-	-	-	OR4M2	NM_001004719,p.V26D|uc010tzu.2,p.V26D|ENST00000332663,p.V26D	protein_coding	uc010tzu.2	nonsynonymous SNV	exon1	c.T77A	p.V26D	LTGLSQTPEVQLVLFVIFLSFYLFI	LTGLSQTPEVQLDLFVIFLSFYLFI	1.0	7.0	unscreened	-	4253_15:22368652-22368652 T>A_LTGLSQTPEVQLDLFVIFLSFYLFI
1:196397273-196397273 C>T	0.0	4253	MELANOMA	-	-	-	-	KCNT2	NM_001287820,p.D316N|NM_198503,p.D316N|uc009wyv.1,p.D291N|uc009wyu.3,p.D316N|uc001gtd.1,p.D316N|ENST00000367431,p.D316N|ENST00000294725,p.D316N|uc001gte.1,p.D316N|uc001gtf.1,p.D316N|NM_001287819,p.D316N|ENST00000367433,p.D316N	protein_coding, processed_transcript	uc009wyv.1	nonsynonymous SNV	exon9	c.G871A	p.D291N	LCVSSLKIDLLMDFLNEFYAHPRLQ	LCVSSLKIDLLMNFLNEFYAHPRLQ	2.0	2.0	unscreened	-	4253_1:196397273-196397273 C>T_LCVSSLKIDLLMNFLNEFYAHPRLQ
12:81072785-81072785 G>A	0.0	4253	MELANOMA	-	-	-	-	PTPRQ	ENST00000266688,p.E2291K	retained_intron, protein_coding, processed_transcript	ENST00000266688	nonsynonymous SNV	exon50	c.G6871A	p.E2291K	LDAMEGDVELEWEETTM	LDAMEGDVELEWKETTM	3.0	10.0	unscreened	-	4253_12:81072785-81072785 G>A_LDAMEGDVELEWKETTM
1:248343753-248343753 G>A	0.0	4253	MELANOMA	-	-	-	-	OR2M2	uc010pzf.2,p.G156R|ENST00000359682,p.G156R|NM_001004688,p.G156R	protein_coding	uc010pzf.2	nonsynonymous SNV	exon1	c.G466A	p.G156R	MATFSWILGSTDGIIDAVATFSFSF	MATFSWILGSTDRIIDAVATFSFSF	1.0	4.0	unscreened	-	4253_1:248343753-248343753 G>A_MATFSWILGSTDRIIDAVATFSFSF
1:228402695-228402695 C>T	0.0	4253	MELANOMA	-	-	-	-	OBSCN	uc001hsq.2,p.T575I|ENST00000422127,p.T575I|NM_001271223,p.T575I|uc001hsn.4,p.T575I|NM_001098623,p.T575I|uc009xez.2,p.T575I|ENST00000284548,p.T575I|NM_052843,p.T575I|ENST00000570156,p.T575I	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon5	c.C1724T	p.T575I	CHEAEWVATPELTVADVAEEGNFQF	CHEAEWVATPELIVADVAEEGNFQF	8.0	3.0	unscreened	-	4253_1:228402695-228402695 C>T_CHEAEWVATPELIVADVAEEGNFQF
10:123970155-123970155 C>T	0.0	4253	MELANOMA	-	-	-	-	TACC2	ENST00000514539,p.S167F|ENST00000260733,p.S150F|ENST00000513429,p.S218F|NM_001291876,p.S2027F|uc001lgb.3,p.S107F|NM_206862,p.S2072F|ENST00000515603,p.S2027F|NM_206861,p.S218F|uc009xzx.3,p.S2027F|ENST00000369005,p.S2072F|ENST00000334433,p.S2072F|ENST00000453444,p.S2076F|uc010qtv.2,p.S2076F|NM_001291878,p.S150F|uc010qtw.1,p.S167F|NM_206860,p.S150F|uc001lfv.3,p.S2072F|NM_006997,p.S150F|ENST00000358010,p.S218F|uc001lga.3,p.S150F|uc001lfz.3,p.S150F|uc001lfw.3,p.S218F|ENST00000369004,p.S150F|NM_001291877,p.S2076F|uc009xzy.3,p.S150F|ENST00000360561,p.S150F|ENST00000368999,p.S150F|ENST00000515273,p.S2076F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qtw.1	nonsynonymous SNV	exon3	c.C500T	p.S167F	KNQEGKVNTRRKSTDSVPISKSTLS	KNQEGKVNTRRKFTDSVPISKSTLS	7.0	9.0	unscreened	-	4253_10:123970155-123970155 C>T_KNQEGKVNTRRKFTDSVPISKSTLS
11:20948939-20948939 A>G	1.0	4253	MELANOMA	-	-	-	-	NELL1	uc001mqf.3,p.D282G|uc001mqe.3,p.D282G|ENST00000357134,p.D282G|uc009yid.3,p.D310G|ENST00000532434,p.D282G|NM_001288714,p.D225G|NM_201551,p.D282G|ENST00000298925,p.D310G|NM_006157,p.D282G|uc010rdp.2,p.D42G|uc010rdo.2,p.D225G|NM_001288713,p.D310G|ENST00000325319,p.D225G	retained_intron, protein_coding, processed_transcript	uc010rdp.2	nonsynonymous SNV	exon5	c.A125G	p.D42G	EKTCQVSGLLYRDQDSWVDGDHCRN	EKTCQVSGLLYRGQDSWVDGDHCRN	6.0	8.0	unscreened	-	4253_11:20948939-20948939 A>G_EKTCQVSGLLYRGQDSWVDGDHCRN
2:54081461-54081461 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1021587;OCCURENCE=1(endometrium)	-	GPR75	ENST00000394705,p.R145W|NM_006794,p.R145W|uc002rxo.3,p.R145W|uc021vhn.1,p.R145W	protein_coding	uc021vhn.1	nonsynonymous SNV	exon1	c.C433T	p.R145W	LKTVAVIALHRLRMVLGKQPNRTAS	LKTVAVIALHRLWMVLGKQPNRTAS	4.0	8.0	unscreened	-	4253_2:54081461-54081461 G>A_LKTVAVIALHRLWMVLGKQPNRTAS
17:76167792-76167792 C>T	0.0	4253	MELANOMA	-	-	-	-	SYNGR2	uc002jut.3,p.T180I|ENST00000588282,p.T180I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jut.3	nonsynonymous SNV	exon3	c.C539T	p.T180I	WVKGGGGWGPPPTCTLLCSPCRVCW	WVKGGGGWGPPPICTLLCSPCRVCW	9.0	6.0	unscreened	-	4253_17:76167792-76167792 C>T_WVKGGGGWGPPPICTLLCSPCRVCW
7:25268056-25268056 C>T	0.0	4253	MELANOMA	-	-	-	-	NPVF	ENST00000222674,p.M1I|NM_022150,p.M1I|uc003sxo.3,p.M1I	protein_coding	uc003sxo.3	nonsynonymous SNV	exon1	c.G3A	p.M1I	MEIISSKLFILLT	IEIISSKLFILLT	1.0	1.0	unscreened	-	4253_7:25268056-25268056 C>T_IEIISSKLFILLT
12:21201723-21201723 G>A	0.0	4253	MELANOMA	-	-	-	-	SLCO1B7	uc010sin.2,p.V358I|uc010sim.2,p.V405I|ENST00000554957,p.V405I|NM_001009562,p.V358I|ENST00000421593,p.V358I|ENST00000381541,p.V405I	protein_coding, processed_transcript	uc010sin.2	nonsynonymous SNV	exon8	c.G1072A	p.V358I	GGYIIKKFKLSLVGLAKLAFCSATV	GGYIIKKFKLSLIGLAKLAFCSATV	2.0	10.0	unscreened	-	4253_12:21201723-21201723 G>A_GGYIIKKFKLSLIGLAKLAFCSATV
3:47455358-47455358 C>T	1.0	4253	MELANOMA	-	-	-	-	SCAP	uc011baz.1,p.E1020K|ENST00000545718,p.E883K|uc003crh.1,p.E1276K|NM_012235,p.E1276K|ENST00000441517,p.E1020K|uc003crg.2,p.E883K|ENST00000265565,p.E1276K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011baz.1	nonsynonymous SNV	exon20	c.G3058A	p.E1020K	SELSLVYVPSVLEKLD	SELSLVYVPSVLKKLD	9.0	9.0	unscreened	-	4253_3:47455358-47455358 C>T_SELSLVYVPSVLKKLD
1:110655340-110655340 G>A	0.0	4253	MELANOMA	-	-	-	-	UBL4B	ENST00000334179,p.G62R|NM_203412,p.G62R|uc001dzc.3,p.G62R	protein_coding	uc001dzc.3	nonsynonymous SNV	exon1	c.G184A	p.G62R	LEDDKHLSDYCIGPNASINVIMQPL	LEDDKHLSDYCIRPNASINVIMQPL	2.0	8.0	unscreened	-	4253_1:110655340-110655340 G>A_LEDDKHLSDYCIRPNASINVIMQPL
8:125061857-125061857 G>A	0.0	4253	MELANOMA	-	-	-	-	FER1L6	uc003yqw.3,p.E912K|ENST00000522917,p.E912K|ENST00000399018,p.E912K|NM_001039112,p.E912K	protein_coding	uc003yqw.3	nonsynonymous SNV	exon22	c.G2734A	p.E912K	VELYDSDAVGKPEYLGATVAAPVVK	VELYDSDAVGKPKYLGATVAAPVVK	1.0	5.0	unscreened	-	4253_8:125061857-125061857 G>A_VELYDSDAVGKPKYLGATVAAPVVK
13:75880554-75880554 C>T	1.0	4253	MELANOMA	-	-	-	-	TBC1D4	uc010aes.2,p.G820S|ENST00000431480,p.G875S|uc001vjl.1,p.G883S|NM_001286658,p.G875S|ENST00000377636,p.G883S|NM_001286659,p.G820S|uc010tht.1,p.G93S|NM_014832,p.G883S|ENST00000377625,p.G820S|uc010aer.2,p.G875S	protein_coding, processed_transcript	uc010tht.1	nonsynonymous SNV	exon4	c.G277A	p.G93S	QSRKVKLDYEEVGACQKEVLITWDK	QSRKVKLDYEEVSACQKEVLITWDK	8.0	3.0	unscreened	-	4253_13:75880554-75880554 C>T_QSRKVKLDYEEVSACQKEVLITWDK
1:209790772-209790772 C>T	1.0	4253	MELANOMA	-	-	-	-	LAMB3	uc009xco.3,p.A1071T|ENST00000391911,p.A1071T|ENST00000356082,p.A1071T|NM_001127641,p.A1071T|ENST00000455193,p.A140T|uc001hhg.3,p.A1071T|NM_000228,p.A1071T|ENST00000367030,p.A1071T|uc001hhh.3,p.A1071T|NM_001017402,p.A1071T	protein_coding	uc009xco.3	nonsynonymous SNV	exon21	c.G3211A	p.A1071T	QAQQLAEGASEQALSAQEGFERIKQ	QAQQLAEGASEQTLSAQEGFERIKQ	6.0	2.0	unscreened	-	4253_1:209790772-209790772 C>T_QAQQLAEGASEQTLSAQEGFERIKQ
11:128774331-128774331 G>A	0.0	4253	MELANOMA	-	-	-	-	C11orf45	uc001qeu.3,p.P44L|ENST00000524878,p.P44L|uc009zcl.4,p.P44L|NM_001256088,p.P44L|ENST00000310799,p.P44L|NM_145013,p.P44L|uc001qev.4,p.P44L	protein_coding, processed_transcript	uc009zcl.4	nonsynonymous SNV	exon2	c.C131T	p.P44L	LMPSPRIWPQVTPTGRSASVRSEGN	LMPSPRIWPQVTLTGRSASVRSEGN	5.0	2.0	unscreened	-	4253_11:128774331-128774331 G>A_LMPSPRIWPQVTLTGRSASVRSEGN
15:85147444-85147444 G>A	1.0	4253	MELANOMA	-	-	-	-	ZSCAN2	uc010uox.1,p.E95K|ENST00000327179,p.E96K|NM_001007072,p.E96K|ENST00000540894,p.E96K|ENST00000538076,p.E96K|ENST00000546148,p.E96K|uc002bkq.3,p.E96K|ENST00000485222,p.E96K|ENST00000448803,p.E96K|ENST00000334141,p.E96K|uc010uoz.1,p.E95K|ENST00000541040,p.E96K|uc002bkp.3,p.E96K|NM_017894,p.E96K|ENST00000379358,p.E96K|uc010uoy.1,p.E95K|uc002bkr.3,p.E96K|uc010bmz.1,p.E95K|NM_181877,p.E96K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010uoz.1	nonsynonymous SNV	exon1	c.G283A	p.E95K	CRRWLRPEVHTKEQMLTMLPKEIQA	CRRWLRPEVHTKKQMLTMLPKEIQA	7.0	2.0	unscreened	-	4253_15:85147444-85147444 G>A_CRRWLRPEVHTKKQMLTMLPKEIQA
12:18836253-18836253 G>A	0.0	4253	MELANOMA	-	-	ID=COSM937724;OCCURENCE=2(NS),1(endometrium)	-	PLCZ1	ENST00000435379,p.R388C|ENST00000447925,p.R581C|uc001rdu.2,p.R365C|ENST00000539875,p.R390C|ENST00000534932,p.R64C|uc001rdv.5,p.R479C|ENST00000538330,p.R365C|uc001rdw.5,p.R324C|uc021qvx.2,p.R583C|ENST00000266505,p.R583C|NM_033123,p.R583C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qvx.2	nonsynonymous SNV	exon15	c.C1747T	p.R583C	YTLPLLCMNKGYRRIPLFSRMGESL	YTLPLLCMNKGYCRIPLFSRMGESL	1.0	10.0	unscreened	-	4253_12:18836253-18836253 G>A_YTLPLLCMNKGYCRIPLFSRMGESL
2:179665353-179665353 C>T	0.0	4253	MELANOMA	-	-	-	-	TTN	ENST00000342992,p.G118R|uc021vta.2,p.G118R|uc021vsz.2,p.G118R|NM_133378,p.G118R|NM_133379,p.G118R|uc031rqc.1,p.G118R|NM_001267550,p.G118R|uc021vtb.2,p.G118R|uc021vsy.2,p.G118R|ENST00000342175,p.G118R|ENST00000359218,p.G118R|uc031rqd.1,p.G118R|uc002und.3,p.G118R|NM_001256850,p.G118R|ENST00000460472,p.G118R|ENST00000591111,p.G118R|ENST00000360870,p.G118R|NM_003319,p.G118R|NM_133437,p.G118R|uc002unb.3,p.G118R|NM_133432,p.G118R|ENST00000589042,p.G118R	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon4	c.G352A	p.G118R	FVQRLQSMTVRQGSQVRLQVRVTGI	FVQRLQSMTVRQRSQVRLQVRVTGI	5.0	9.0	unscreened	-	4253_2:179665353-179665353 C>T_FVQRLQSMTVRQRSQVRLQVRVTGI
6:27279063-27279063 G>A	0.0	4253	MELANOMA	-	-	-	-	POM121L2	NM_033482,p.S296F|ENST00000444565,p.S296F|ENST00000377451,p.S296F|uc011dku.1,p.S296F	protein_coding	uc011dku.1	nonsynonymous SNV	exon1	c.C887T	p.S296F	WPIKKEKSCHRPSSPVPLVSDFESL	WPIKKEKSCHRPFSPVPLVSDFESL	1.0	9.0	unscreened	-	4253_6:27279063-27279063 G>A_WPIKKEKSCHRPFSPVPLVSDFESL
4:41984609-41984609 T>C	0.0	4253	MELANOMA	-	-	ID=COSM1429732;OCCURENCE=1(large_intestine)	-	DCAF4L1	uc003gwk.2,p.L267P|ENST00000333141,p.L267P|NM_001029955,p.L267P	protein_coding	uc003gwk.2	nonsynonymous SNV	exon1	c.T800C	p.L267P	CRNRGKGWRATRLFHDSAVTSVQIL	CRNRGKGWRATRPFHDSAVTSVQIL	4.0	7.0	unscreened	-	4253_4:41984609-41984609 T>C_CRNRGKGWRATRPFHDSAVTSVQIL
11:45671831-45671831 C>T	0.0	4253	MELANOMA	-	-	-	-	CHST1	uc001mys.2,p.D215N|NM_003654,p.D215N|uc021qgn.1,p.D215N|ENST00000308064,p.D215N	retained_intron, protein_coding, processed_transcript	uc021qgn.1	nonsynonymous SNV	exon1	c.G643A	p.D215N	VAIKTVRVPEVNDLRALVEDPRLNL	VAIKTVRVPEVNNLRALVEDPRLNL	6.0	8.0	unscreened	-	4253_11:45671831-45671831 C>T_VAIKTVRVPEVNNLRALVEDPRLNL
8:145667676-145667676 T>G	1.0	4253	MELANOMA	-	-	-	-	TONSL	NM_013432,p.H233P|uc011llg.2,p.H233P|ENST00000409379,p.H233P	retained_intron, protein_coding	uc011llg.2	nonsynonymous SNV	exon6	c.A698C	p.H233P	AMRCLEGARECAHTMRKRFMESECC	AMRCLEGARECAPTMRKRFMESECC	7.0	7.0	unscreened	-	4253_8:145667676-145667676 T>G_AMRCLEGARECAPTMRKRFMESECC
14:74876243-74876243 G>A	0.0	4253	MELANOMA	-	-	-	-	SYNDIG1L	ENST00000331628,p.R69W|uc001xpx.2,p.R69W|ENST00000554823,p.R69W|NM_001105579,p.R69W	protein_coding	uc001xpx.2	nonsynonymous SNV	exon2	c.C205T	p.R69W	PGSLQLAVEAWYRPSCLLGRDKVKE	PGSLQLAVEAWYWPSCLLGRDKVKE	5.0	1.0	unscreened	-	4253_14:74876243-74876243 G>A_PGSLQLAVEAWYWPSCLLGRDKVKE
12:55523560-55523560 G>A	0.0	4253	MELANOMA	-	-	-	-	OR9K2	NM_001005243,p.G3E|uc010spe.2,p.G3E|ENST00000305377,p.G3E	protein_coding	uc010spe.2	nonsynonymous SNV	exon1	c.G8A	p.G3E	MLGSKPRVHLYILPC	MLESKPRVHLYILPC	1.0	8.0	unscreened	-	4253_12:55523560-55523560 G>A_MLESKPRVHLYILPC
17:39739536-39739536 C>T	1.0	4253	MELANOMA	-	-	-	-	KRT14	ENST00000167586,p.E409K|uc002hxf.2,p.E409K|NM_000526,p.E409K	retained_intron, protein_coding	uc002hxf.2	nonsynonymous SNV	exon6	c.G1225A	p.E409K	EYKILLDVKTRLEQEIATYRRLLEG	EYKILLDVKTRLKQEIATYRRLLEG	4.0	10.0	unscreened	-	4253_17:39739536-39739536 C>T_EYKILLDVKTRLKQEIATYRRLLEG
14:20404190-20404190 G>A	0.0	4253	MELANOMA	-	-	-	-	OR4K1	uc001vwj.2,p.R122K|ENST00000285600,p.R122K|NM_001004063,p.R122K	protein_coding	uc001vwj.2	nonsynonymous SNV	exon1	c.G365A	p.R122K	SEMMLLVAMAYDRFIAICKPLHYST	SEMMLLVAMAYDKFIAICKPLHYST	2.0	3.0	unscreened	-	4253_14:20404190-20404190 G>A_SEMMLLVAMAYDKFIAICKPLHYST
5:90070088-90070088 C>T	0.0	4253	MELANOMA	-	-	-	-	GPR98	NM_032119,p.S4124L|ENST00000405460,p.S4124L|uc003kju.3,p.S4124L	retained_intron, protein_coding, processed_transcript	uc003kju.3	nonsynonymous SNV	exon60	c.C12371T	p.S4124L	LEEDRRFTIQLISIDEVEISPVKGS	LEEDRRFTIQLILIDEVEISPVKGS	4.0	6.0	unscreened	-	4253_5:90070088-90070088 C>T_LEEDRRFTIQLILIDEVEISPVKGS
19:56539868-56539868 C>T	0.0	4253	MELANOMA	-	-	-	-	NLRP5	uc002qmi.3,p.P738S|ENST00000390649,p.P757S|NM_153447,p.P757S|uc002qmj.3,p.P757S	protein_coding, nonsense_mediated_decay	uc002qmj.3	nonsynonymous SNV	exon7	c.C2269T	p.P757S	PRDESAEACPVVPLWMRDKTLIEEQ	PRDESAEACPVVSLWMRDKTLIEEQ	3.0	1.0	unscreened	-	4253_19:56539868-56539868 C>T_PRDESAEACPVVSLWMRDKTLIEEQ
21:19687469-19687469 C>T	0.0	4253	MELANOMA	-	-	-	-	TMPRSS15	NM_002772,p.D676N|uc002ykw.3,p.D676N|ENST00000284885,p.D676N	protein_coding, processed_transcript	uc002ykw.3	nonsynonymous SNV	exon17	c.G2026A	p.D676N	GHLHCEDGSDEADCVRFFNGTTNNN	GHLHCEDGSDEANCVRFFNGTTNNN	2.0	7.0	unscreened	-	4253_21:19687469-19687469 C>T_GHLHCEDGSDEANCVRFFNGTTNNN
22:30857669-30857669 C>T	0.0	4253	MELANOMA	-	-	-	-	SEC14L3	uc003aib.3,p.G203R|NM_001257382,p.G203R|NM_001257379,p.G203R|uc003ahz.3,p.G185R|uc003aia.3,p.G203R|NM_174975,p.G262R|ENST00000403066,p.G203R|ENST00000215812,p.G262R|NM_001257378,p.G185R|ENST00000540910,p.G185R|ENST00000402286,p.G185R|uc003ahy.3,p.G262R|ENST00000415957,p.G203R|ENST00000539629,p.G203R|ENST00000401751,p.G203R	protein_coding, nonsense_mediated_decay	uc003aib.3	nonsynonymous SNV	exon11	c.G607A	p.G203R	GNPKCLTKINYGGEIPKSMYVRDQV	GNPKCLTKINYGREIPKSMYVRDQV	1.0	10.0	unscreened	-	4253_22:30857669-30857669 C>T_GNPKCLTKINYGREIPKSMYVRDQV
4:126369900-126369900 C>T	0.0	4253	MELANOMA	-	-	-	1	FAT4	NM_001291303,p.P2579S|uc011cgp.2,p.P875S|uc003ifj.4,p.P2577S|ENST00000335110,p.P875S|NM_024582,p.P2577S|NM_001291285,p.P2579S|uc003ifi.1,p.P55S|ENST00000394329,p.P2577S	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.C2623T	p.P875S	PKVRAKEQTFMFPENQPVSSLVTTI	PKVRAKEQTFMFSENQPVSSLVTTI	4.0	5.0	unscreened	-	4253_4:126369900-126369900 C>T_PKVRAKEQTFMFSENQPVSSLVTTI
1:158576636-158576636 G>A	0.0	4253	MELANOMA	-	-	-	-	OR10Z1	ENST00000361284,p.M136I|NM_001004478,p.M136I|uc010pio.2,p.M136I	protein_coding	uc010pio.2	nonsynonymous SNV	exon1	c.G408A	p.M136I	VAICAPLHYASHMNPTLCAQLVITS	VAICAPLHYASHINPTLCAQLVITS	1.0	7.0	unscreened	-	4253_1:158576636-158576636 G>A_VAICAPLHYASHINPTLCAQLVITS
11:123476185-123476185 C>T	0.0	4253	MELANOMA	-	-	-	-	GRAMD1B	ENST00000322282,p.S298L|NM_001286563,p.S305L|uc010rzw.2,p.S258L|uc010rzx.1,p.S258L|uc001pyx.2,p.S298L|uc009zbe.1,p.S294L|ENST00000534764,p.S294L|ENST00000529750,p.S298L|ENST00000529432,p.S258L|NM_001286564,p.S258L|NM_020716,p.S298L|uc001pyw.2,p.S305L|ENST00000456860,p.S305L	retained_intron, protein_coding	uc010rzx.1	nonsynonymous SNV	exon9	c.C773T	p.S258L	TLTSTGSSEAPVSFDGLPLEEEALE	TLTSTGSSEAPVLFDGLPLEEEALE	5.0	8.0	unscreened	-	4253_11:123476185-123476185 C>T_TLTSTGSSEAPVLFDGLPLEEEALE
18:70417436-70417436 G>A	0.0	4253	MELANOMA	-	-	-	-	NETO1	ENST00000583169,p.P468S|ENST00000299430,p.P467S|NM_138966,p.P468S|NM_001201465,p.P468S|uc002lkw.3,p.P468S|ENST00000327305,p.P468S|uc002lky.2,p.P468S	protein_coding, processed_transcript	uc002lky.2	nonsynonymous SNV	exon9	c.C1402T	p.P468S	TEMPTQPGKPLIPPMNRRNILVMKH	TEMPTQPGKPLISPMNRRNILVMKH	2.0	1.0	unscreened	-	4253_18:70417436-70417436 G>A_TEMPTQPGKPLISPMNRRNILVMKH
5:137219115-137219115 G>A	1.0	4253	MELANOMA	-	-	-	-	MYOT	uc003lbv.3,p.G287R|NM_001135940,p.G103R|ENST00000239926,p.G287R|ENST00000515645,p.G172R|uc011cyg.2,p.G103R|ENST00000421631,p.G103R|uc011cyh.2,p.G172R|NM_006790,p.G287R|NM_001300911,p.G172R|uc011cye.2,p.G287R	retained_intron, protein_coding, processed_transcript	uc011cyh.2	nonsynonymous SNV	exon8	c.G514A	p.G172R	GLPAPDVSWYLNGRTVQSDDLHKMI	GLPAPDVSWYLNRRTVQSDDLHKMI	7.0	7.0	unscreened	-	4253_5:137219115-137219115 G>A_GLPAPDVSWYLNRRTVQSDDLHKMI
13:46840920-46840920 G>A	0.0	4253	MELANOMA	-	-	-	-	LRRC63	ENST00000595396,p.G455R|uc001vbc.3,p.G455R|ENST00000446175,p.G455R|NM_001282460,p.G455R|ENST00000378805,p.G455R	protein_coding, non_stop_decay	uc001vbc.3	nonsynonymous SNV	exon9	c.G1363A	p.G455R	TVDGNELSFFPHGILKLNLTKIQFE	TVDGNELSFFPHRILKLNLTKIQFE	4.0	4.0	unscreened	-	4253_13:46840920-46840920 G>A_TVDGNELSFFPHRILKLNLTKIQFE
2:197298098-197298098 G>A	0.0	4253	MELANOMA	-	-	-	-	HECW2	uc002utm.1,p.P17L|ENST00000427457,p.P17L|NM_020760,p.P17L|ENST00000260983,p.P17L|ENST00000452031,p.P17L	retained_intron, protein_coding	uc002utm.1	nonsynonymous SNV	exon2	c.C50T	p.P17L	AREHLLFVRRRNPQMRYTLSPENLQ	AREHLLFVRRRNLQMRYTLSPENLQ	5.0	8.0	unscreened	-	4253_2:197298098-197298098 G>A_AREHLLFVRRRNLQMRYTLSPENLQ
8:113277772-113277772 C>T	1.0	4253	MELANOMA	-	-	-	2	CSMD3	uc003ynt.3,p.G3146R|ENST00000297405,p.G3186R|ENST00000455883,p.G3017R|ENST00000343508,p.G3146R|uc011lhx.2,p.G3017R|uc003yns.3,p.G2388R|NM_198123,p.G3186R|NM_052900,p.G3017R|ENST00000352409,p.G3116R|uc003ynu.3,p.G3186R|NM_198124,p.G3146R|ENST00000339701,p.G2456R	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon58	c.G9049A	p.G3017R	GDPGIPANGLRYGDDYVVGQNVSYM	GDPGIPANGLRYRDDYVVGQNVSYM	4.0	9.0	unscreened	-	4253_8:113277772-113277772 C>T_GDPGIPANGLRYRDDYVVGQNVSYM
8:70981783-70981783 G>A	0.0	4253	MELANOMA	-	-	-	-	PRDM14	uc003xym.3,p.P105S|ENST00000276594,p.P105S|NM_024504,p.P105S	protein_coding	uc003xym.3	nonsynonymous SNV	exon2	c.C313T	p.P105S	PWYSKLPPWYPIPHVPREVPPFLSS	PWYSKLPPWYPISHVPREVPPFLSS	1.0	7.0	unscreened	-	4253_8:70981783-70981783 G>A_PWYSKLPPWYPISHVPREVPPFLSS
1:228528839-228528839 C>A	0.0	4253	MELANOMA	-	-	-	-	OBSCN	ENST00000570156,p.P6871H|NM_052843,p.P5914H|uc009xez.2,p.P5914H|ENST00000366707,p.P3548H|uc001hsr.1,p.P543H|ENST00000284548,p.P5914H|uc001hsq.2,p.P6871H|NM_001271223,p.P6871H|ENST00000422127,p.P5914H|NM_001098623,p.P5914H|uc001hsn.4,p.P5914H|ENST00000366709,p.P3033H	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon73	c.C17741A	p.P5914H	FIVWEGAPGARMPWKGHNRHVFLFR	FIVWEGAPGARMHWKGHNRHVFLFR	8.0	2.0	unscreened	-	4253_1:228528839-228528839 C>A_FIVWEGAPGARMHWKGHNRHVFLFR
1:35652849-35652849 C>G	1.0	4253	MELANOMA	-	-	-	1	SFPQ	ENST00000470472,p.E161Q|uc001bys.3,p.E607Q|NM_005066,p.E607Q|ENST00000357214,p.E607Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bys.3	nonsynonymous SNV	exon8	c.G1819C	p.E607Q	ESYSRMGYMDPRERDMRMGGGGAMN	ESYSRMGYMDPRQRDMRMGGGGAMN	10.0	6.0	unscreened	-	4253_1:35652849-35652849 C>G_ESYSRMGYMDPRQRDMRMGGGGAMN
19:56531747-56531747 C>T	0.0	4253	MELANOMA	-	-	-	-	NLRP5	NM_153447,p.S210L|ENST00000390649,p.S210L|uc002qmj.3,p.S210L	protein_coding, nonsense_mediated_decay	uc002qmj.3	nonsynonymous SNV	exon6	c.C629T	p.S210L	GATAAETEEQEISQAMEQEGATAAE	GATAAETEEQEILQAMEQEGATAAE	3.0	8.0	unscreened	-	4253_19:56531747-56531747 C>T_GATAAETEEQEILQAMEQEGATAAE
2:165969421-165969421 A>G	0.0	4253	MELANOMA	-	-	-	-	SCN3A	uc002udb.1,p.C1093R|uc002ucx.3,p.C1273R|ENST00000360093,p.C1273R|uc002ucy.3,p.C1224R|NM_006922,p.C1273R|ENST00000440431,p.C1224R|NM_001081677,p.C1224R|uc002ucz.3,p.C1224R|NM_001081676,p.C1224R|uc002uda.1,p.C1093R|ENST00000283254,p.C1273R|ENST00000409101,p.C1224R	retained_intron, protein_coding, processed_transcript	uc002udb.1	nonsynonymous SNV	exon17	c.T3277C	p.C1093R	AYGFQTYFTNAWCWLDFLIVDVSLV	AYGFQTYFTNAWRWLDFLIVDVSLV	5.0	3.0	unscreened	-	4253_2:165969421-165969421 A>G_AYGFQTYFTNAWRWLDFLIVDVSLV
16:48173123-48173123 G>A	0.0	4253	MELANOMA	-	-	-	-	ABCC12	ENST00000533639,p.P261L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000533639	nonsynonymous SNV	exon6	c.C782T	p.P261L	VFCAAYAFFILGPTALIGISVCLWP	VFCAAYAFFILGLTALIGISVCLWP	1.0	6.0	unscreened	-	4253_16:48173123-48173123 G>A_VFCAAYAFFILGLTALIGISVCLWP
3:47284661-47284661 G>A	0.0	4253	MELANOMA	-	-	-	-	KIF9	ENST00000452770,p.T530I|uc010hjp.3,p.T530I|NM_182902,p.T530I|NM_001134878,p.T530I|ENST00000265529,p.T530I|uc003cqx.3,p.T530I|ENST00000335044,p.T530I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hjp.3	nonsynonymous SNV	exon17	c.C1589T	p.T530I	NGKDLDYVSTSKTQLVPSSKDGDVK	NGKDLDYVSTSKIQLVPSSKDGDVK	8.0	1.0	unscreened	-	4253_3:47284661-47284661 G>A_NGKDLDYVSTSKIQLVPSSKDGDVK
20:61951688-61951688 G>A	1.0	4253	MELANOMA	-	-	-	-	COL20A1	ENST00000435874,p.D1048N|NM_020882,p.D1041N|ENST00000455906,p.D49N|uc011aau.2,p.D1041N|ENST00000422202,p.D1048N|ENST00000415763,p.D144N|uc011aav.2,p.D862N|ENST00000358894,p.D1041N|ENST00000326996,p.D1041N	retained_intron, protein_coding, processed_transcript	uc011aav.2	nonsynonymous SNV	exon21	c.G2584A	p.D862N	QMLQIVCSDTWADEDRCCELPASRD	QMLQIVCSDTWANEDRCCELPASRD	10.0	8.0	unscreened	-	4253_20:61951688-61951688 G>A_QMLQIVCSDTWANEDRCCELPASRD
5:140802950-140802950 G>A	1.0	4253	MELANOMA	-	-	ID=COSM125217;OCCURENCE=1(upper_aerodigestive_tract),1(endometrium)	-	PCDHGA11	NM_032091,p.R719H|ENST00000398587,p.R719H|NM_018914,p.R719H|uc003lkq.2,p.R719H|uc003lko.1,p.R719H	protein_coding	uc003lkq.2	nonsynonymous SNV	exon1	c.G2156A	p.R719H	VFVIVLLALRLWRWHKSRLLQASEG	VFVIVLLALRLWHWHKSRLLQASEG	4.0	6.0	unscreened	-	4253_5:140802950-140802950 G>A_VFVIVLLALRLWHWHKSRLLQASEG
20:39832002-39832002 G>A	1.0	4253	MELANOMA	-	-	-	-	ZHX3	ENST00000432768,p.P519S|uc002xjw.1,p.P519S|ENST00000560361,p.P519S|ENST00000540170,p.P519S|ENST00000544979,p.P519S|ENST00000559234,p.P519S|uc002xjs.1,p.P519S|ENST00000309060,p.P519S|uc010ggg.1,p.P519S|uc002xjt.1,p.P519S|uc002xjr.1,p.P519S|uc002xjv.1,p.P519S|uc002xju.1,p.P519S|NM_015035,p.P519S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ggg.1	nonsynonymous SNV	exon1	c.C1555T	p.P519S	SALKGSFCRNQFPGQSEVEHLTKVT	SALKGSFCRNQFSGQSEVEHLTKVT	8.0	4.0	unscreened	-	4253_20:39832002-39832002 G>A_SALKGSFCRNQFSGQSEVEHLTKVT
1:47512192-47512192 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1639908;OCCURENCE=1(stomach)	-	CYP4X1	ENST00000371901,p.R376Q|uc001cqr.3,p.R375Q|uc001cqt.3,p.R376Q|ENST00000538609,p.R375Q|NM_178033,p.R376Q|uc001cqs.3,p.R311Q	protein_coding, processed_transcript	uc001cqt.3	nonsynonymous SNV	exon9	c.G1127A	p.R376Q	MSYTTMCIKETCRLIPAVPSISRDL	MSYTTMCIKETCQLIPAVPSISRDL	3.0	6.0	unscreened	-	4253_1:47512192-47512192 G>A_MSYTTMCIKETCQLIPAVPSISRDL
14:22133796-22133796 C>T	0.0	4253	MELANOMA	-	-	-	-	OR4E2	ENST00000408935,p.P167L|NM_001001912,p.P167L|uc010tmd.2,p.P167L	protein_coding	uc010tmd.2	nonsynonymous SNV	exon1	c.C500T	p.P167L	HSLGQTFLTIRLPYCGPNIIDSYFC	HSLGQTFLTIRLLYCGPNIIDSYFC	1.0	2.0	unscreened	-	4253_14:22133796-22133796 C>T_HSLGQTFLTIRLLYCGPNIIDSYFC
19:43519474-43519474 G>A	0.0	4253	MELANOMA	-	-	-	-	PSG11	uc002ovp.1,p.S131L|uc002ovm.1,p.S253L|ENST00000403486,p.S131L|NM_001113410,p.S131L|NM_002785,p.S253L|ENST00000320078,p.S253L|ENST00000598133,p.S253L|ENST00000306322,p.S131L|NM_203287,p.S131L|uc002ovo.1,p.S131L|ENST00000401740,p.S253L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ovp.1	nonsynonymous SNV	exon3	c.C392T	p.S131L	LPRIFPSVTSYYSGENLDLSCFANS	LPRIFPSVTSYYLGENLDLSCFANS	4.0	3.0	unscreened	-	4253_19:43519474-43519474 G>A_LPRIFPSVTSYYLGENLDLSCFANS
15:42434280-42434280 G>A	0.0	4253	MELANOMA	-	-	-	-	PLA2G4F	uc010bcq.3,p.L115F|ENST00000397272,p.L820F|uc010bcs.3,p.L605F|NM_213600,p.L818F|uc001zoz.3,p.L818F|uc010bcr.3,p.L569F|uc001zpa.3,p.L569F|ENST00000382396,p.L818F|uc001zoy.3,p.L450F	retained_intron, protein_coding, nonsense_mediated_decay	uc010bcs.3	nonsynonymous SNV	exon20	c.C1813T	p.L605F	TYEPQDFYRLVALSRYNVLNNVETL	TYEPQDFYRLVAFSRYNVLNNVETL	2.0	8.0	unscreened	-	4253_15:42434280-42434280 G>A_TYEPQDFYRLVAFSRYNVLNNVETL
17:50149693-50149693 C>T	0.0	4253	MELANOMA	-	-	-	-	CA10	uc002itz.2,p.G41E|NM_001082534,p.G41E|NM_001082533,p.G41E|uc002ity.4,p.G41E|ENST00000442502,p.G41E|uc002itv.4,p.G47E|ENST00000575181,p.G41E|NM_020178,p.G41E|ENST00000340813,p.G47E|ENST00000451037,p.G41E|ENST00000285273,p.G41E|uc002itx.4,p.G41E|uc002itw.4,p.G41E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002itz.2	nonsynonymous SNV	exon3	c.G122A	p.G41E	HEGWWAYKEVVQGSFVPVPSFWGLV	HEGWWAYKEVVQESFVPVPSFWGLV	4.0	7.0	unscreened	-	4253_17:50149693-50149693 C>T_HEGWWAYKEVVQESFVPVPSFWGLV
11:58477276-58477276 G>A	0.0	4253	MELANOMA	-	-	-	-	GLYAT	ENST00000344743,p.P285L|uc001nnb.3,p.P285L|NM_201648,p.P285L|ENST00000529732,p.P285L	retained_intron, protein_coding	uc001nnb.3	nonsynonymous SNV	exon6	c.C854T	p.P285L	QKMSYTLQHVPIPRSWNQWNCVPL	QKMSYTLQHVPILRSWNQWNCVPL	1.0	9.0	unscreened	-	4253_11:58477276-58477276 G>A_QKMSYTLQHVPILRSWNQWNCVPL
4:72631323-72631323 G>A	0.0	4253	MELANOMA	-	-	-	-	GC	NM_001204306,p.S100F|uc021xpb.1,p.S100F|NM_001204307,p.S119F|uc003hge.3,p.S100F|NM_000583,p.S100F|ENST00000504199,p.S119F|uc010iif.3,p.S119F|ENST00000509740,p.S100F|ENST00000273951,p.S100F|ENST00000506245,p.S100F|ENST00000513476,p.S100F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xpb.1	nonsynonymous SNV	exon5	c.C299T	p.S100F	TSALSAKSCESNSPFPVHPGTAECC	TSALSAKSCESNFPFPVHPGTAECC	1.0	6.0	unscreened	-	4253_4:72631323-72631323 G>A_TSALSAKSCESNFPFPVHPGTAECC
6:14135355-14135355 A>G	1.0	4253	MELANOMA	-	-	-	-	CD83	uc021ylz.1,p.Q110R|NM_001251901,p.Q110R|NM_004233,p.Q169R|ENST00000379153,p.Q169R|uc003nbi.3,p.Q169R	protein_coding	uc021ylz.1	nonsynonymous SNV	exon5	c.A329G	p.Q110R	TLIIFTCKFARLQSIFPDFSKAGME	TLIIFTCKFARLRSIFPDFSKAGME	8.0	4.0	unscreened	-	4253_6:14135355-14135355 A>G_TLIIFTCKFARLRSIFPDFSKAGME
1:196879546-196879546 G>A	0.0	4253	MELANOMA	-	-	-	-	CFHR4	uc009wyy.3,p.G311E|ENST00000367416,p.G311E|ENST00000367418,p.G65E|NM_001201551,p.G311E|NM_001201550,p.G312E|uc001gtp.3,p.G312E	protein_coding	uc009wyy.3	nonsynonymous SNV	exon6	c.G932A	p.G311E	SYYCDQNFVTPSGSYWDYIHCTQDG	SYYCDQNFVTPSESYWDYIHCTQDG	1.0	3.0	unscreened	-	4253_1:196879546-196879546 G>A_SYYCDQNFVTPSESYWDYIHCTQDG
1:176927601-176927601 C>T	0.0	4253	MELANOMA	-	-	-	-	ASTN1	ENST00000367654,p.G547E|uc009wwx.1,p.G539E|NM_207108,p.G539E|uc001gld.1,p.G539E|ENST00000424564,p.G539E|NM_004319,p.G539E|uc001glb.1,p.G539E|ENST00000361833,p.G539E|NM_001286164,p.G539E|uc001glc.3,p.G539E|ENST00000367657,p.G539E	protein_coding, processed_transcript	uc009wwx.1	nonsynonymous SNV	exon10	c.G1616A	p.G539E	PSDKIFRFTYTLGEGMWLPLSKSFV	PSDKIFRFTYTLEEGMWLPLSKSFV	4.0	9.0	unscreened	-	4253_1:176927601-176927601 C>T_PSDKIFRFTYTLEEGMWLPLSKSFV
19:53553262-53553262 G>A	0.0	4253	MELANOMA	-	-	-	-	ERVV-2	uc021uzd.1,p.G253D|ENST00000601417,p.G253D|NM_001191055,p.G253D|uc031rmt.1,p.G253D	protein_coding	uc031rmt.1	nonsynonymous SNV	exon1	c.G758A	p.G253D	DSHIPRWACTPPGYVFLCGPQKNKL	DSHIPRWACTPPDYVFLCGPQKNKL	3.0	7.0	unscreened	-	4253_19:53553262-53553262 G>A_DSHIPRWACTPPDYVFLCGPQKNKL
20:33874748-33874748 T>C	0.0	4253	MELANOMA	-	-	-	-	FAM83C	ENST00000374408,p.T612A|NM_178468,p.T612A|uc021wck.1,p.T612A|uc002xcb.1,p.T267A	protein_coding	uc021wck.1	nonsynonymous SNV	exon4	c.A1834G	p.T612A	YPKAQGSRVPLETNSSARPARRAPD	YPKAQGSRVPLEANSSARPARRAPD	1.0	8.0	unscreened	-	4253_20:33874748-33874748 T>C_YPKAQGSRVPLEANSSARPARRAPD
5:147209170-147209170 C>T	0.0	4253	MELANOMA	-	-	-	-	SPINK1	ENST00000510027,p.G27R|NM_003122,p.G27R|uc003los.2,p.G27R|ENST00000296695,p.G27R	retained_intron, protein_coding	uc003los.2	nonsynonymous SNV	exon2	c.G79A	p.G27R	LSLSGNTGADSLGREAKCYNELNGC	LSLSGNTGADSLRREAKCYNELNGC	8.0	1.0	unscreened	-	4253_5:147209170-147209170 C>T_LSLSGNTGADSLRREAKCYNELNGC
13:35770136-35770136 G>A	1.0	4253	MELANOMA	-	-	-	2	NBEA	uc021rid.1,p.G1688E|ENST00000310336,p.G1688E|ENST00000379939,p.G1685E|uc010abi.3,p.G344E|NM_015678,p.G1688E|ENST00000540320,p.G1688E|ENST00000400445,p.G1688E	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon31	c.G5063A	p.G1688E	GIGEEQVASILNGAELETSTGPDAM	GIGEEQVASILNEAELETSTGPDAM	5.0	4.0	unscreened	-	4253_13:35770136-35770136 G>A_GIGEEQVASILNEAELETSTGPDAM
12:55795052-55795052 C>T	0.0	4253	MELANOMA	-	-	-	-	OR6C65	uc010spl.2,p.S247F|NM_001005518,p.S247F|ENST00000379665,p.S247F	protein_coding	uc010spl.2	nonsynonymous SNV	exon1	c.C740T	p.S247F	AFSTCSSHMIVVSVSYGSCIFMCVK	AFSTCSSHMIVVFVSYGSCIFMCVK	1.0	8.0	unscreened	-	4253_12:55795052-55795052 C>T_AFSTCSSHMIVVFVSYGSCIFMCVK
11:125616221-125616221 G>A	0.0	4253	MELANOMA	-	-	-	-	PATE1	ENST00000437148,p.E8K|NM_138294,p.E8K|uc001qct.3,p.E8K|ENST00000305738,p.E8K|uc009zbr.3,p.E8K	retained_intron, protein_coding	uc009zbr.3	nonsynonymous SNV	exon1	c.G22A	p.E8K	MDKSLLLELPILLCCFRALS	MDKSLLLKLPILLCCFRALS	1.0	2.0	unscreened	-	4253_11:125616221-125616221 G>A_MDKSLLLKLPILLCCFRALS
10:13494541-13494541 G>A	0.0	4253	MELANOMA	-	-	-	-	BEND7	ENST00000396898,p.S407L|uc001imo.4,p.S355L|ENST00000440282,p.S98L|NM_001100912,p.S355L|uc001imn.3,p.S103L|ENST00000396900,p.S394L|ENST00000378605,p.S355L	protein_coding, processed_transcript	uc001imo.4	nonsynonymous SNV	exon6	c.C1064T	p.S355L	QIKLARRRLKRGSEIADSDERLDGI	QIKLARRRLKRGLEIADSDERLDGI	7.0	9.0	unscreened	-	4253_10:13494541-13494541 G>A_QIKLARRRLKRGLEIADSDERLDGI
1:11562019-11562019 G>A	0.0	4253	MELANOMA	-	-	-	-	PTCHD2	NM_020780,p.D324N|ENST00000389575,p.D324N|ENST00000294484,p.D324N|uc001asi.1,p.D324N|uc001ash.4,p.D324N	protein_coding, processed_transcript	uc001asi.1	nonsynonymous SNV	exon1	c.G970A	p.D324N	REFCWKPHEVLKDLPLGSYSYCSPP	REFCWKPHEVLKNLPLGSYSYCSPP	5.0	4.0	unscreened	-	4253_1:11562019-11562019 G>A_REFCWKPHEVLKNLPLGSYSYCSPP
2:31147002-31147002 C>T	1.0	4253	MELANOMA	-	-	-	-	GALNT14	NM_001253826,p.E460K|ENST00000349752,p.E455K|uc002rnq.3,p.E435K|uc010ymr.2,p.E420K|ENST00000356174,p.E422K|NM_024572,p.E455K|ENST00000406653,p.E435K|ENST00000324589,p.E460K|ENST00000420311,p.E420K|uc002rns.3,p.E460K|uc002rnr.3,p.E455K|NM_001253827,p.E435K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ymr.2	nonsynonymous SNV	exon14	c.G1258A	p.E420K	NLKLSPCAKVKGEDAKSQVWAFTYT	NLKLSPCAKVKGKDAKSQVWAFTYT	8.0	2.0	unscreened	-	4253_2:31147002-31147002 C>T_NLKLSPCAKVKGKDAKSQVWAFTYT
17:10310110-10310110 C>T	0.0	4253	MELANOMA	-	-	-	-	MYH8	ENST00000403437,p.E690K|uc002gmm.2,p.E690K|NM_002472,p.E690K	protein_coding	uc002gmm.2	nonsynonymous SNV	exon19	c.G2068A	p.E690K	PNETKTPGAMEHELVLHQLRCNGVL	PNETKTPGAMEHKLVLHQLRCNGVL	1.0	5.0	unscreened	-	4253_17:10310110-10310110 C>T_PNETKTPGAMEHKLVLHQLRCNGVL
22:16449030-16449030 G>A	0.0	4253	MELANOMA	-	-	-	-	OR11H1	NM_001005239,p.H259Y|ENST00000252835,p.H259Y|uc011agd.2,p.H259Y	protein_coding	uc011agd.2	nonsynonymous SNV	exon1	c.C775T	p.H259Y	TGRHKAFSTCGSHLAVVSLCYSSLM	TGRHKAFSTCGSYLAVVSLCYSSLM	1.0	7.0	unscreened	-	4253_22:16449030-16449030 G>A_TGRHKAFSTCGSYLAVVSLCYSSLM
16:15690690-15690690 G>A	1.0	4253	MELANOMA	-	-	-	-	KIAA0430	uc002ddr.3,p.P1697S|uc010uzw.2,p.P1697S|NM_001184999,p.P1694S|ENST00000540441,p.P1532S|NM_014647,p.P1697S|ENST00000551742,p.P1697S|ENST00000396368,p.P1697S|uc010uzv.2,p.P1694S|ENST00000344181,p.P1385S|uc002ddq.3,p.P1531S|ENST00000602337,p.P1694S|NM_001184998,p.P1697S|ENST00000548025,p.P1694S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uzw.2	nonsynonymous SNV	exon27	c.C5089T	p.P1697S	SDSSSSCISAAVPVPPCPSSETSES	SDSSSSCISAAVSVPPCPSSETSES	9.0	6.0	unscreened	-	4253_16:15690690-15690690 G>A_SDSSSSCISAAVSVPPCPSSETSES
2:131414992-131414992 G>A	0.0	4253	MELANOMA	-	-	-	-	POTEJ	ENST00000409602,p.E887K|NM_001277083,p.E887K|uc021vor.2,p.E887K	protein_coding	uc021vor.2	nonsynonymous SNV	exon15	c.G2659A	p.E887K	IKEKLCYVALDFEQEMAMVASSSSL	IKEKLCYVALDFKQEMAMVASSSSL	6.0	7.0	unscreened	-	4253_2:131414992-131414992 G>A_IKEKLCYVALDFKQEMAMVASSSSL
3:38739931-38739931 G>A	0.0	4253	MELANOMA	-	-	-	-	SCN10A	ENST00000449082,p.R1594C|NM_006514,p.R1594C|uc003ciq.3,p.R1594C|NM_001293307,p.R1496C|NM_001293306,p.R1593C	protein_coding	uc003ciq.3	nonsynonymous SNV	exon27	c.C4780T	p.R1594C	RILRLIRAAKGIRTLLFALMMSLPA	RILRLIRAAKGICTLLFALMMSLPA	1.0	9.0	unscreened	-	4253_3:38739931-38739931 G>A_RILRLIRAAKGICTLLFALMMSLPA
4:66356427-66356427 G>A	0.0	4253	MELANOMA	-	-	-	-	EPHA5	uc003hcx.3,p.P288L|NM_182472,p.P357L|NM_001281765,p.P357L|ENST00000273854,p.P357L|uc003hcz.3,p.P357L|uc003hda.2,p.P357L|NM_004439,p.P357L|ENST00000511294,p.P357L|uc011cah.2,p.P357L|ENST00000354839,p.P357L|NM_001281767,p.P357L|NM_001281766,p.P357L|uc003hcy.3,p.P357L|uc011cai.2,p.P357L	protein_coding	uc011cai.2	nonsynonymous SNV	exon5	c.C1070T	p.P357L	RESDPPTMACTRPPSAPRNAISNVN	RESDPPTMACTRLPSAPRNAISNVN	3.0	7.0	unscreened	-	4253_4:66356427-66356427 G>A_RESDPPTMACTRLPSAPRNAISNVN
2:186664717-186664717 G>A	0.0	4253	MELANOMA	-	-	-	-	FSIP2	uc002upl.3,p.E3651K|ENST00000343098,p.E3651K|ENST00000424728,p.E3562K|NM_173651,p.E3651K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.G10951A	p.E3651K	SISIGELALCISEIIIKILFNNKII	SISIGELALCISKIIIKILFNNKII	5.0	3.0	unscreened	-	4253_2:186664717-186664717 G>A_SISIGELALCISKIIIKILFNNKII
11:55541597-55541597 G>A	0.0	4253	MELANOMA	-	-	-	-	OR5D13	uc010ril.2,p.M228I|ENST00000361760,p.M228I|NM_001001967,p.M228I	protein_coding	uc010ril.2	nonsynonymous SNV	exon1	c.G684A	p.M228I	ILTSYMLIFTTIMKMRSASGRQKTF	ILTSYMLIFTTIIKMRSASGRQKTF	1.0	8.0	unscreened	-	4253_11:55541597-55541597 G>A_ILTSYMLIFTTIIKMRSASGRQKTF
1:156551638-156551638 G>A	0.0	4253	MELANOMA	-	-	-	-	TTC24	ENST00000368236,p.G161E|NM_001105669,p.G161E|uc021pbf.1,p.G161E|ENST00000368237,p.G161E	protein_coding, processed_transcript	uc021pbf.1	nonsynonymous SNV	exon2	c.G482A	p.G161E	PQGDQGEAWAKMGACYQALGQPELA	PQGDQGEAWAKMEACYQALGQPELA	2.0	7.0	unscreened	-	4253_1:156551638-156551638 G>A_PQGDQGEAWAKMEACYQALGQPELA
16:77398237-77398237 C>T	0.0	4253	MELANOMA	-	-	-	-	ADAMTS18	ENST00000282849,p.D274N|uc002ffc.4,p.D274N|NM_199355,p.D274N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ffc.4	nonsynonymous SNV	exon5	c.G820A	p.D274N	PKPPTEDTYLRFDEYGSSGRPRRSA	PKPPTEDTYLRFNEYGSSGRPRRSA	1.0	7.0	unscreened	-	4253_16:77398237-77398237 C>T_PKPPTEDTYLRFNEYGSSGRPRRSA
17:25965316-25965316 G>A	0.0	4253	MELANOMA	-	-	-	-	LGALS9	ENST00000467111,p.G23R|NM_009587,p.G23R|uc002gzq.3,p.G23R|NM_002308,p.G23R|ENST00000580779,p.G23R|uc002gzp.3,p.G23R|ENST00000577392,p.G23R|ENST00000313648,p.G23R|ENST00000310394,p.G23R|ENST00000302228,p.G23R|ENST00000395473,p.G23R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gzq.3	nonsynonymous SNV	exon2	c.G67A	p.G23R	LSPAVPFSGTIQGGLQDGLQITVNG	LSPAVPFSGTIQRGLQDGLQITVNG	9.0	1.0	unscreened	-	4253_17:25965316-25965316 G>A_LSPAVPFSGTIQRGLQDGLQITVNG
1:89849783-89849783 C>A	0.0	4253	MELANOMA	-	-	-	-	GBP6	uc001dnf.2,p.L534M|ENST00000535065,p.L404M|ENST00000370456,p.L534M|uc010ost.1,p.L404M|NM_198460,p.L534M	protein_coding, processed_transcript	uc010ost.1	nonsynonymous SNV	exon8	c.C1210A	p.L404M	SRKENIAQLKEKLQMEREHLLREQI	SRKENIAQLKEKMQMEREHLLREQI	2.0	10.0	unscreened	-	4253_1:89849783-89849783 C>A_SRKENIAQLKEKMQMEREHLLREQI
9:91686136-91686136 G>A	0.0	4253	MELANOMA	-	-	-	-	SHC3	ENST00000375835,p.S254F|NM_016848,p.S254F|uc004aqf.2,p.S254F	protein_coding	uc004aqf.2	nonsynonymous SNV	exon5	c.C761T	p.S254F	KQIIANHHMRSISFASGGDPDTTDY	KQIIANHHMRSIFFASGGDPDTTDY	5.0	10.0	unscreened	-	4253_9:91686136-91686136 G>A_KQIIANHHMRSIFFASGGDPDTTDY
4:6621746-6621746 G>C	1.0	4253	MELANOMA	-	-	-	-	MAN2B2	ENST00000285599,p.W969C|uc003gjf.1,p.W969C|NM_015274,p.W969C|NM_001292038,p.W918C|uc011bwf.1,p.W918C|ENST00000504248,p.W918C	protein_coding, processed_transcript	uc011bwf.1	nonsynonymous SNV	exon18	c.G2754C	p.W918C	GTWDLSMLHRWSWRTGPGRHRGDTT	GTWDLSMLHRWSCRTGPGRHRGDTT	8.0	3.0	unscreened	-	4253_4:6621746-6621746 G>C_GTWDLSMLHRWSCRTGPGRHRGDTT
17:4802610-4802610 G>A	0.0	4253	MELANOMA	-	-	-	-	CHRNE	ENST00000293780,p.P368S|uc002fzk.1,p.P368S|NM_000080,p.P368S	retained_intron, protein_coding, processed_transcript	uc002fzk.1	nonsynonymous SNV	exon10	c.C1102T	p.P368S	SPPPPEAPRAASPPRRASSVGLLLR	SPPPPEAPRAASSPRRASSVGLLLR	5.0	5.0	unscreened	-	4253_17:4802610-4802610 G>A_SPPPPEAPRAASSPRRASSVGLLLR
9:77378008-77378008 C>G	0.0	4253	MELANOMA	-	-	-	-	TRPM6	uc022bib.1,p.K1188N|ENST00000451710,p.K1193N|NM_001177310,p.K1188N|ENST00000449912,p.K1188N|NM_001177311,p.K1188N|ENST00000376864,p.K1193N|uc004ajk.1,p.K1188N|ENST00000361255,p.K1188N|NM_017662,p.K1193N|ENST00000360774,p.K1193N|uc004ajj.1,p.K149N|uc004ajl.1,p.K1193N	protein_coding, processed_transcript	uc022bib.1	nonsynonymous SNV	exon26	c.G3564C	p.K1188N	TEMYFQLKEMNEKVSFIKDSLLSLD	TEMYFQLKEMNENVSFIKDSLLSLD	3.0	10.0	unscreened	-	4253_9:77378008-77378008 C>G_TEMYFQLKEMNENVSFIKDSLLSLD
11:5529572-5529572 C>T	0.0	4253	MELANOMA	-	-	-	-	UBQLN3	ENST00000311659,p.R406K|uc021qcw.1,p.R406K|uc001may.1,p.R406K|NM_017481,p.R406K	protein_coding	uc021qcw.1	nonsynonymous SNV	exon1	c.G1217A	p.R406K	QPLPEESVAIKGRSSCPAFLRYPTE	QPLPEESVAIKGKSSCPAFLRYPTE	1.0	3.0	unscreened	-	4253_11:5529572-5529572 C>T_QPLPEESVAIKGKSSCPAFLRYPTE
1:85790454-85790454 C>T	0.0	4253	MELANOMA	-	-	-	-	DDAH1	ENST00000539042,p.R237Q|NM_001134445,p.R134Q|ENST00000542148,p.R137Q|uc001dlb.3,p.R237Q|ENST00000284031,p.R237Q|uc001dlc.3,p.R134Q|NM_012137,p.R237Q|uc010osb.2,p.R137Q|uc009wco.3,p.R134Q|ENST00000426972,p.R144Q|ENST00000535924,p.R134Q	protein_coding, processed_transcript	uc010osb.2	nonsynonymous SNV	exon5	c.G410A	p.R137Q	LNIPNKGHVLLHRTPEEYPESAKVY	LNIPNKGHVLLHQTPEEYPESAKVY	7.0	10.0	unscreened	-	4253_1:85790454-85790454 C>T_LNIPNKGHVLLHQTPEEYPESAKVY
11:5270771-5270771 T>G	1.0	4253	MELANOMA	-	-	-	-	HBG1	NM_000559,p.N48H|uc001mah.1,p.N48H|ENST00000330597,p.N48H	protein_coding	uc001mah.1	nonsynonymous SNV	exon2	c.A142C	p.N48H	YPWTQRFFDSFGNLSSASAIMGNPK	YPWTQRFFDSFGHLSSASAIMGNPK	5.0	3.0	unscreened	-	4253_11:5270771-5270771 T>G_YPWTQRFFDSFGHLSSASAIMGNPK
19:9072454-9072454 G>A	0.0	4253	MELANOMA	-	-	-	2	MUC16	NM_024690,p.P4998S|uc002mkp.3,p.P4998S|ENST00000397910,p.P4998S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C14992T	p.P4998S	QDTFTMDPSNTTPQAGIHSAMTHGF	QDTFTMDPSNTTSQAGIHSAMTHGF	2.0	10.0	unscreened	-	4253_19:9072454-9072454 G>A_QDTFTMDPSNTTSQAGIHSAMTHGF
1:167400947-167400947 G>A	0.0	4253	MELANOMA	-	-	-	-	CD247	NM_198053,p.L156F|uc001gei.4,p.L156F|uc001gej.4,p.L155F|ENST00000392122,p.L155F|NM_000734,p.L155F|ENST00000362089,p.L156F	protein_coding, processed_transcript	uc001gej.4	nonsynonymous SNV	exon8	c.C463T	p.L155F	GLSTATKDTYDALHMQALPPR	GLSTATKDTYDAFHMQALPPR	8.0	9.0	unscreened	-	4253_1:167400947-167400947 G>A_GLSTATKDTYDAFHMQALPPR
4:80328820-80328820 C>T	0.0	4253	MELANOMA	-	-	-	-	GK2	ENST00000358842,p.D179N|uc003hlu.3,p.D179N|NM_033214,p.D179N	protein_coding	uc003hlu.3	nonsynonymous SNV	exon1	c.G535A	p.D179N	AVEEGRALFGTIDSWLIWSLTGGVN	AVEEGRALFGTINSWLIWSLTGGVN	1.0	7.0	unscreened	-	4253_4:80328820-80328820 C>T_AVEEGRALFGTINSWLIWSLTGGVN
6:32012900-32012900 C>T	0.0	4253	MELANOMA	-	-	-	-	TNXB	ENST00000451343,p.G33S|ENST00000375244,p.G3604S|ENST00000375247,p.G3602S|NM_032470,p.G33S|uc003nzh.1,p.G71S|uc003nzl.2,p.G3602S|NM_019105,p.G3602S|uc003nzg.1,p.G33S	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon32	c.G10804A	p.G3602S	DTNGQPQALLVDGDQSKILISGLEP	DTNGQPQALLVDSDQSKILISGLEP	7.0	1.0	unscreened	-	4253_6:32012900-32012900 C>T_DTNGQPQALLVDSDQSKILISGLEP
18:77659106-77659106 T>C	0.0	4253	MELANOMA	-	-	-	-	KCNG2	ENST00000316249,p.F231L|uc010xfl.2,p.F231L|NM_012283,p.F231L	protein_coding, processed_transcript	uc010xfl.2	nonsynonymous SNV	exon2	c.T691C	p.F231L	FVLETVCVAWFSFEFLLRSLQAESK	FVLETVCVAWFSLEFLLRSLQAESK	3.0	3.0	unscreened	-	4253_18:77659106-77659106 T>C_FVLETVCVAWFSLEFLLRSLQAESK
11:55703114-55703114 C>T	0.0	4253	MELANOMA	-	-	-	-	OR5I1	ENST00000301532,p.G255R|NM_006637,p.G255R|uc010ris.2,p.G255R	protein_coding	uc010ris.2	nonsynonymous SNV	exon1	c.G763A	p.G255R	CASHLTSVTIYQGTLLFIYSRPSYL	CASHLTSVTIYQRTLLFIYSRPSYL	2.0	7.0	unscreened	-	4253_11:55703114-55703114 C>T_CASHLTSVTIYQRTLLFIYSRPSYL
16:1245468-1245468 G>A	0.0	4253	MELANOMA	-	-	-	-	CACNA1H	NM_021098,p.E150K|uc002cks.3,p.E150K|ENST00000358590,p.E150K|ENST00000348261,p.E150K|NM_001005407,p.E150K|uc002ckt.3,p.E150K|ENST00000565831,p.E150K	retained_intron, protein_coding	uc002ckt.3	nonsynonymous SNV	exon4	c.G448A	p.E150K	AFDAFIFAFFAVEMVIKMVALGLFG	AFDAFIFAFFAVKMVIKMVALGLFG	5.0	7.0	unscreened	-	4253_16:1245468-1245468 G>A_AFDAFIFAFFAVKMVIKMVALGLFG
19:55526144-55526144 G>A	0.0	4253	MELANOMA	-	-	-	-	GP6	ENST00000310373,p.S390F|NM_001083899,p.S390F|uc002qil.3,p.S390F	retained_intron, protein_coding	uc002qil.3	nonsynonymous SNV	exon8	c.C1169T	p.S390F	LWKRGHAASSWCSIREPFGQCLSVC	LWKRGHAASSWCFIREPFGQCLSVC	4.0	8.0	unscreened	-	4253_19:55526144-55526144 G>A_LWKRGHAASSWCFIREPFGQCLSVC
11:104757937-104757937 C>T	1.0	4253	MELANOMA	-	-	-	-	CASP12	NM_001191016,p.E305K|ENST00000508062,p.E221K|uc031qdp.1,p.E208K|ENST00000375726,p.E305K|uc031qdo.1,p.E305K|ENST00000422698,p.E305K	protein_coding, nonsense_mediated_decay	uc031qdp.1	nonsynonymous SNV	exon7	c.G622A	p.E208K	YFREYSWSHHLEEIFQKVQHSFETP	YFREYSWSHHLEKIFQKVQHSFETP	4.0	3.0	unscreened	-	4253_11:104757937-104757937 C>T_YFREYSWSHHLEKIFQKVQHSFETP
X:8763435-8763435 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1714611;OCCURENCE=1(skin)	-	FAM9A	NM_174951,p.R172Q|ENST00000381003,p.R172Q|ENST00000543214,p.R172Q|uc004csg.3,p.R172Q|uc022bsk.1,p.R172Q|NM_001171186,p.R172Q	protein_coding	uc022bsk.1	nonsynonymous SNV	exon7	c.G515A	p.R172Q	QLKRQKRDYRHTRKLLNVLKEYIAE	QLKRQKRDYRHTQKLLNVLKEYIAE	1.0	10.0	unscreened	-	4253_X:8763435-8763435 C>T_QLKRQKRDYRHTQKLLNVLKEYIAE
6:133078573-133078573 G>A	1.0	4253	MELANOMA	-	-	ID=COSM3410595;OCCURENCE=1(central_nervous_system)	-	VNN2	ENST00000528801,p.P109L	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000528801	nonsynonymous SNV	exon2	c.C326T	p.P109L	LEDIPDPQVNWIPCQDPHRSAHC	LEDIPDPQVNWILCQDPHRSAHC	7.0	10.0	unscreened	-	4253_6:133078573-133078573 G>A_LEDIPDPQVNWILCQDPHRSAHC
13:25356079-25356079 C>T	0.0	4253	MELANOMA	-	-	-	-	RNF17	ENST00000255325,p.S203F	protein_coding, processed_transcript	ENST00000255325	nonsynonymous SNV	exon6	c.C608T	p.S203F	EKQFDQLLAFFDSRRKKNLCEEFAR	EKQFDQLLAFFDFRRKKNLCEEFAR	1.0	4.0	unscreened	-	4253_13:25356079-25356079 C>T_EKQFDQLLAFFDFRRKKNLCEEFAR
19:54803141-54803141 C>T	0.0	4253	MELANOMA	0.0014	-	ID=COSM1526540;OCCURENCE=1(lung)	-	LILRA3	uc002qfd.3,p.R179Q|ENST00000391745,p.R196Q|NM_006865,p.R179Q|ENST00000251390,p.R179Q	protein_coding	uc002qfd.3	nonsynonymous SNV	exon4	c.G536A	p.R179Q	CLNSHSHARGSSRAIFSVGPVSPSR	CLNSHSHARGSSQAIFSVGPVSPSR	5.0	10.0	unscreened	-	4253_19:54803141-54803141 C>T_CLNSHSHARGSSQAIFSVGPVSPSR
X:3240095-3240095 T>C	0.0	4253	MELANOMA	-	-	-	-	MXRA5	NM_015419,p.N1211D|ENST00000217939,p.N1211D|uc004crg.4,p.N1211D	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.A3631G	p.N1211D	SLVPTAWVDNTVNTPKQLEMEKNAE	SLVPTAWVDNTVDTPKQLEMEKNAE	8.0	10.0	unscreened	-	4253_X:3240095-3240095 T>C_SLVPTAWVDNTVDTPKQLEMEKNAE
14:89151456-89151456 C>T	0.0	4253	MELANOMA	-	-	-	-	EML5	uc001xxh.1,p.R101H|ENST00000352093,p.R924H|ENST00000554922,p.R962H|uc021ryf.1,p.R962H|ENST00000380664,p.R962H|uc021ryg.1,p.R962H|NM_183387,p.R962H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ryg.1	nonsynonymous SNV	exon20	c.G2885A	p.R962H	SKGLLLEDNPSIRAISLGHGHILVG	SKGLLLEDNPSIHAISLGHGHILVG	2.0	2.0	unscreened	-	4253_14:89151456-89151456 C>T_SKGLLLEDNPSIHAISLGHGHILVG
11:31123825-31123825 C>T	0.0	4253	MELANOMA	-	-	-	-	DCDC5,DCDC1	uc001msu.2,p.E247K|ENST00000597505,p.E628K|uc009yjk.1,p.E76K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yjk.1	nonsynonymous SNV	exon3	c.G226A	p.E76K	PNAVLLPGCGNWEVCEGFPINFNCT	PNAVLLPGCGNWKVCEGFPINFNCT	4.0	3.0	unscreened	-	4253_11:31123825-31123825 C>T_PNAVLLPGCGNWKVCEGFPINFNCT
19:56459635-56459635 G>A	0.0	4253	MELANOMA	-	-	-	-	NLRP8	NM_176811,p.A123T|uc002qmh.3,p.A123T|ENST00000291971,p.A123T|ENST00000590542,p.A123T|uc010etg.3,p.A123T	protein_coding	uc010etg.3	nonsynonymous SNV	exon1	c.G367A	p.A123T	DKMCVVVRREINAILPTLEPEDLNV	DKMCVVVRREINTILPTLEPEDLNV	1.0	8.0	unscreened	-	4253_19:56459635-56459635 G>A_DKMCVVVRREINTILPTLEPEDLNV
12:4479544-4479544 G>A	0.0	4253	MELANOMA	-	-	-	-	FGF23	NM_020638,p.P241S|ENST00000237837,p.P241S|uc001qmq.1,p.P241S	protein_coding	uc001qmq.1	nonsynonymous SNV	exon3	c.C721T	p.P241S	GGRVNTHAGGTGPEGCRPFAKFI	GGRVNTHAGGTGSEGCRPFAKFI	5.0	2.0	unscreened	-	4253_12:4479544-4479544 G>A_GGRVNTHAGGTGSEGCRPFAKFI
17:62271023-62271023 C>T	1.0	4253	MELANOMA	-	-	-	-	TEX2	ENST00000583097,p.G691E|NM_001288732,p.G691E|uc002jed.3,p.G691E|NM_001288733,p.G691E|uc002jee.3,p.G691E|ENST00000258991,p.G691E|NM_018469,p.G691E|ENST00000584379,p.G691E|uc002jec.3,p.G691E	retained_intron, protein_coding, processed_transcript	uc002jee.3	nonsynonymous SNV	exon4	c.G2072A	p.G691E	RSSQRDQILYLFGRTGREKEEWFRR	RSSQRDQILYLFERTGREKEEWFRR	7.0	7.0	unscreened	-	4253_17:62271023-62271023 C>T_RSSQRDQILYLFERTGREKEEWFRR
5:140778884-140778884 C>T	0.0	4253	MELANOMA	-	-	-	-	PCDHGB5	NM_032099,p.S397L|uc003lkf.2,p.S397L|uc011daw.2,p.S397L|NM_018925,p.S397L	protein_coding	uc011daw.2	nonsynonymous SNV	exon1	c.C1190T	p.S397L	EVPFKIISSSKNSYKLVTDGTLDRE	EVPFKIISSSKNLYKLVTDGTLDRE	7.0	5.0	unscreened	-	4253_5:140778884-140778884 C>T_EVPFKIISSSKNLYKLVTDGTLDRE
6:133078573-133078573 G>A	1.0	4253	MELANOMA	-	-	ID=COSM3410595;OCCURENCE=1(central_nervous_system)	-	VNN2	ENST00000525270,p.P56L|ENST00000525674,p.P109L|NM_078488,p.P56L|ENST00000524919,p.P109L|ENST00000326499,p.P109L|NM_001242350,p.P109L|ENST00000532053,p.P109L|ENST00000525289,p.P109L|uc003qdv.3,p.P56L|ENST00000530536,p.P56L|ENST00000422400,p.P109L|uc003qdt.3,p.P109L|ENST00000418593,p.P109L|ENST00000392389,p.P109L|ENST00000533835,p.P109L|ENST00000531279,p.P56L|NM_004665,p.P109L|uc010kgb.3,p.P109L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kgb.3	nonsynonymous SNV	exon2	c.C326T	p.P109L	LEDIPDPQVNWIPCQDPHRFGHTPV	LEDIPDPQVNWILCQDPHRFGHTPV	7.0	10.0	unscreened	-	4253_6:133078573-133078573 G>A_LEDIPDPQVNWILCQDPHRFGHTPV
3:124839555-124839555 G>A	0.0	4253	MELANOMA	-	-	-	-	SLC12A8	uc003eht.4,p.H39Y|ENST00000430155,p.H39Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eht.4	nonsynonymous SNV	exon1	c.C115T	p.H39Y	LGKAMRGGGCSPHSPSGCLSGVMAG	LGKAMRGGGCSPYSPSGCLSGVMAG	6.0	1.0	unscreened	-	4253_3:124839555-124839555 G>A_LGKAMRGGGCSPYSPSGCLSGVMAG
16:48173123-48173123 G>A	0.0	4253	MELANOMA	-	-	-	-	ABCC12	ENST00000529504,p.P261L|ENST00000448542,p.P261L|NM_033226,p.P261L|uc002efc.1,p.P261L|ENST00000497206,p.P261L|ENST00000416054,p.P261L|ENST00000311303,p.P261L|ENST00000532494,p.P261L|ENST00000529084,p.P261L|uc002efe.1,p.P261L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002efe.1	nonsynonymous SNV	exon6	c.C782T	p.P261L	VFCAAYAFFILGPTALIGISVYVIF	VFCAAYAFFILGLTALIGISVYVIF	1.0	6.0	unscreened	-	4253_16:48173123-48173123 G>A_VFCAAYAFFILGLTALIGISVYVIF
2:136548333-136548333 G>A	0.0	4253	MELANOMA	-	-	-	-	LCT	ENST00000264162,p.P1744S|uc002tuu.1,p.P1744S|NM_002299,p.P1744S	protein_coding, nonsense_mediated_decay	uc002tuu.1	nonsynonymous SNV	exon15	c.C5230T	p.P1744S	ILNWLKEEYNDPPIYVTENGVSQRE	ILNWLKEEYNDPSIYVTENGVSQRE	1.0	8.0	unscreened	-	4253_2:136548333-136548333 G>A_ILNWLKEEYNDPSIYVTENGVSQRE
19:40886580-40886580 C>T	0.0	4253	MELANOMA	-	-	-	-	HIPK4	NM_144685,p.G440R|uc002onp.3,p.G440R|ENST00000291823,p.G440R	protein_coding	uc002onp.3	nonsynonymous SNV	exon3	c.G1318A	p.G440R	QLDDLSLQEAGHGLWGETCTNAVSD	QLDDLSLQEAGHRLWGETCTNAVSD	2.0	9.0	unscreened	-	4253_19:40886580-40886580 C>T_QLDDLSLQEAGHRLWGETCTNAVSD
3:159605542-159605542 G>A	1.0	4253	MELANOMA	-	-	-	-	IQCJ-SCHIP1,SCHIP1	uc003fcu.2,p.E105K|ENST00000460298,p.E308K|ENST00000337808,p.E348K|uc003fcs.2,p.E348K|ENST00000527095,p.E116K|uc003fcq.2,p.E424K|NM_001197109,p.E105K|NM_001197108,p.E116K|ENST00000412423,p.E335K|uc010hvz.1,p.E308K|NM_001197107,p.E335K|NM_001197113,p.E424K|ENST00000485419,p.E424K|uc003fct.2,p.E335K|NM_001197114,p.E397K|NM_014575,p.E348K|uc021xgm.1,p.E116K|uc003fcr.2,p.E397K|ENST00000476809,p.E397K|ENST00000482804,p.E121K|ENST00000445224,p.E105K	 protein_coding,retained_intron,protein_coding, nonsense_mediated_decay, processed_transcript	uc021xgm.1	nonsynonymous SNV	exon4	c.G346A	p.E116K	SSSYSDRDTTEEESESLDDMDFLTR	SSSYSDRDTTEEKSESLDDMDFLTR	8.0	1.0	unscreened	-	4253_3:159605542-159605542 G>A_SSSYSDRDTTEEKSESLDDMDFLTR
19:9046460-9046460 C>T	0.0	4253	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.R11724K|ENST00000397910,p.R11724K|NM_024690,p.R11724K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon5	c.G35171A	p.R11724K	SPDATPVMATSPRTEASSAVLTTIS	SPDATPVMATSPKTEASSAVLTTIS	2.0	8.0	unscreened	-	4253_19:9046460-9046460 C>T_SPDATPVMATSPKTEASSAVLTTIS
14:65262137-65262137 C>T	0.0	4253	MELANOMA	-	-	-	-	SPTB	NM_000347,p.R521H|uc001xhr.3,p.R521H|uc001xhs.3,p.R521H|ENST00000389722,p.R521H|ENST00000389721,p.R521H|uc001xhu.3,p.R521H|ENST00000556626,p.R521H|uc001xht.3,p.R521H|ENST00000542895,p.R521H|ENST00000389720,p.R521H|NM_001024858,p.R521H	retained_intron, protein_coding, processed_transcript	uc001xhu.3	nonsynonymous SNV	exon12	c.G1562A	p.R521H	LWSYLQELLQSRRQRLETTLALQKL	LWSYLQELLQSRHQRLETTLALQKL	4.0	1.0	unscreened	-	4253_14:65262137-65262137 C>T_LWSYLQELLQSRHQRLETTLALQKL
16:7657323-7657323 G>A	0.0	4253	MELANOMA	-	-	-	-	RBFOX1	NM_001142333,p.S220N|ENST00000553186,p.S220N|uc010uyc.1,p.S240N|uc002cyt.2,p.S220N	retained_intron, protein_coding, processed_transcript	uc010uyc.1	nonsynonymous SNV	exon7	c.G719A	p.S240N	GWKLNPVVGAVYSPEFYAVPGFPYP	GWKLNPVVGAVYNPEFYAVPGFPYP	4.0	7.0	unscreened	-	4253_16:7657323-7657323 G>A_GWKLNPVVGAVYNPEFYAVPGFPYP
2:179577239-179577239 C>T	0.0	4253	MELANOMA	-	-	-	-	TTN	ENST00000589042,p.G9137E|NM_001267550,p.G9137E|uc002umz.1,p.G4554E|uc031rqc.1,p.G9137E|ENST00000591111,p.G8820E|uc031rqd.1,p.G8820E|ENST00000342992,p.G7893E|NM_133378,p.G7893E|NM_001256850,p.G8820E|uc021vsy.2,p.G7893E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon93	c.G26459A	p.G8820E	KGKPLILEGTFTGTPPISVTWKKNG	KGKPLILEGTFTETPPISVTWKKNG	5.0	4.0	unscreened	-	4253_2:179577239-179577239 C>T_KGKPLILEGTFTETPPISVTWKKNG
11:118772198-118772198 G>A	0.0	4253	MELANOMA	-	-	-	1	BCL9L	ENST00000334801,p.P752S|uc001pug.3,p.P752S|NM_182557,p.P752S|uc009zal.3,p.P747S	protein_coding, processed_transcript	uc009zal.3	nonsynonymous SNV	exon6	c.C2239T	p.P747S	MEFGGGRGLLSPPMGQSGLREVDPP	MEFGGGRGLLSPSMGQSGLREVDPP	7.0	2.0	unscreened	-	4253_11:118772198-118772198 G>A_MEFGGGRGLLSPSMGQSGLREVDPP
11:55406375-55406375 C>A	0.0	4253	MELANOMA	-	-	-	-	OR4P4	ENST00000314612,p.P181H|uc010rij.2,p.P181H|NM_001004124,p.P181H	protein_coding	uc010rij.2	nonsynonymous SNV	exon1	c.C542A	p.P181H	PNEIDHYFCDVYPLLKLACSNIHMI	PNEIDHYFCDVYHLLKLACSNIHMI	1.0	3.0	unscreened	-	4253_11:55406375-55406375 C>A_PNEIDHYFCDVYHLLKLACSNIHMI
1:111216290-111216290 G>A	0.0	4253	MELANOMA	-	-	-	-	KCNA3	uc001dzv.1,p.S381F|ENST00000369769,p.S381F|NM_002232,p.S381F	protein_coding	uc001dzv.1	nonsynonymous SNV	exon1	c.C1142T	p.S381F	VRVFRIFKLSRHSKGLQILGQTLKA	VRVFRIFKLSRHFKGLQILGQTLKA	3.0	3.0	unscreened	-	4253_1:111216290-111216290 G>A_VRVFRIFKLSRHFKGLQILGQTLKA
7:100644745-100644745 T>A	0.0	4253	MELANOMA	-	-	-	-	MUC12	ENST00000536621,p.F3634Y|ENST00000379442,p.F3777Y|NM_001164462,p.F3634Y|uc003uxo.3,p.F3634Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.T10901A	p.F3634Y	STSPGLQGESTAFQTHPASTHTTPS	STSPGLQGESTAYQTHPASTHTTPS	5.0	1.0	unscreened	-	4253_7:100644745-100644745 T>A_STSPGLQGESTAYQTHPASTHTTPS
10:125514203-125514203 C>T	0.0	4253	MELANOMA	-	-	-	-	CPXM2	NM_198148,p.G665S|uc001lhk.1,p.G665S|ENST00000241305,p.G665S	protein_coding, processed_transcript	uc001lhk.1	nonsynonymous SNV	exon13	c.G1993A	p.G665S	GKGIPNAIISVEGINHDIRTANDGD	GKGIPNAIISVESINHDIRTANDGD	5.0	10.0	unscreened	-	4253_10:125514203-125514203 C>T_GKGIPNAIISVESINHDIRTANDGD
6:46851988-46851988 C>T	0.0	4253	MELANOMA	-	-	-	-	GPR116	uc003oyp.3,p.E117K|NM_001098518,p.E117K|ENST00000362015,p.E117K|ENST00000456426,p.E117K|ENST00000283296,p.E117K|NM_015234,p.E117K|ENST00000265417,p.E117K|uc003oyr.2,p.E117K|uc003oyo.3,p.E117K|uc003oyq.3,p.E117K	protein_coding, processed_transcript	uc003oyr.2	nonsynonymous SNV	exon5	c.G349A	p.E117K	INVTTVCRPAGNEIWCSCETGYGWP	INVTTVCRPAGNKIWCSCETGYGWP	6.0	4.0	unscreened	-	4253_6:46851988-46851988 C>T_INVTTVCRPAGNKIWCSCETGYGWP
19:10419003-10419003 G>A	1.0	4253	MELANOMA	-	-	-	-	ZGLP1	ENST00000403352,p.P35S|NM_001103167,p.P119S|uc002mnw.4,p.P119S|ENST00000403903,p.P119S	retained_intron, protein_coding	uc002mnw.4	nonsynonymous SNV	exon1	c.C355T	p.P119S	SQKGRRLQPPGTPSAPPQRRPRKQL	SQKGRRLQPPGTSSAPPQRRPRKQL	9.0	9.0	unscreened	-	4253_19:10419003-10419003 G>A_SQKGRRLQPPGTSSAPPQRRPRKQL
11:5013447-5013447 A>T	0.0	4253	MELANOMA	-	-	-	-	MMP26	ENST00000380390,p.E254V|ENST00000300762,p.E254V|uc001lzv.3,p.E254V|NM_021801,p.E254V	protein_coding, processed_transcript	uc001lzv.3	nonsynonymous SNV	exon6	c.A761T	p.E254V	ADDIQRIQHLYGEKCSSDIP	ADDIQRIQHLYGVKCSSDIP	3.0	10.0	unscreened	-	4253_11:5013447-5013447 A>T_ADDIQRIQHLYGVKCSSDIP
12:47163103-47163103 G>A	0.0	4253	MELANOMA	-	-	-	-	SLC38A4	ENST00000447411,p.L470F|NM_001143824,p.L470F|NM_018018,p.L470F|uc001rpi.2,p.L470F|ENST00000266579,p.L470F|uc001rpj.2,p.L470F	protein_coding	uc001rpj.2	nonsynonymous SNV	exon14	c.C1408T	p.L470F	AVLIALNNVLVILVPTIKYIFGFIG	AVLIALNNVLVIFVPTIKYIFGFIG	1.0	8.0	unscreened	-	4253_12:47163103-47163103 G>A_AVLIALNNVLVIFVPTIKYIFGFIG
6:161470592-161470592 C>T	1.0	4253	MELANOMA	-	-	-	-	MAP3K4	uc010kkc.2,p.P409S|ENST00000392142,p.P430S|ENST00000366919,p.P430S|ENST00000366920,p.P430S|uc003qto.3,p.P430S|uc003qtn.3,p.P430S|ENST00000544041,p.P430S|ENST00000348824,p.P430S|ENST00000490904,p.P430S|NM_006724,p.P430S|NM_001301072,p.P430S|NM_005922,p.P430S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kkc.2	nonsynonymous SNV	exon3	c.C1225T	p.P409S	NLSDIGWPVFEIPSPRPSKGNEPEY	NLSDIGWPVFEISSPRPSKGNEPEY	8.0	10.0	unscreened	-	4253_6:161470592-161470592 C>T_NLSDIGWPVFEISSPRPSKGNEPEY
12:21918682-21918682 C>T	1.0	4253	MELANOMA	-	-	-	-	KCNJ8	uc001rff.4,p.G417E|NM_004982,p.G417E|ENST00000240662,p.G417E	protein_coding	uc001rff.4	nonsynonymous SNV	exon3	c.G1250A	p.G417E	LMVPKVQFMTPEGNQNTSES	LMVPKVQFMTPEENQNTSES	7.0	10.0	unscreened	-	4253_12:21918682-21918682 C>T_LMVPKVQFMTPEENQNTSES
6:56382003-56382003 G>A	1.0	4253	MELANOMA	-	-	-	-	DST	NM_001144770,p.S3860L|ENST00000446842,p.S5582L|uc021zba.2,p.S3998L|uc021zay.2,p.S3860L|uc003pcy.4,p.S3494L|uc021zaz.2,p.S3820L|NM_015548,p.S3494L|ENST00000421834,p.S3820L|ENST00000370769,p.S5908L|ENST00000370754,p.S6086L|ENST00000370788,p.S3711L|ENST00000361203,p.S5797L|NM_183380,p.S3820L|NM_001144769,p.S3998L|ENST00000244364,p.S3494L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zba.2	nonsynonymous SNV	exon65	c.C11993T	p.S3998L	KIMTACSEEEKQSMKKKLDKVLKNY	KIMTACSEEEKQLMKKKLDKVLKNY	10.0	3.0	unscreened	-	4253_6:56382003-56382003 G>A_KIMTACSEEEKQLMKKKLDKVLKNY
6:53519575-53519575 C>T	0.0	4253	MELANOMA	-	-	-	-	KLHL31	ENST00000370905,p.E166K|ENST00000407079,p.E166K|NM_001003760,p.E166K|uc003pcb.4,p.E166K	protein_coding	uc003pcb.4	nonsynonymous SNV	exon2	c.G496A	p.E166K	TLVKMCSDFLIREMSVENCMYVVNI	TLVKMCSDFLIRKMSVENCMYVVNI	4.0	4.0	unscreened	-	4253_6:53519575-53519575 C>T_TLVKMCSDFLIRKMSVENCMYVVNI
5:140537261-140537261 C>T	1.0	4253	MELANOMA	-	-	-	-	PCDHB17	ENST00000539533,p.S562L|uc003lis.3,p.S561L	protein_coding	uc003lis.3	nonsynonymous SNV	exon1	c.C1682T	p.S561L	VLVCWTPTTTRPSCCTRCRTAPRPA	VLVCWTPTTTRPLCCTRCRTAPRPA	4.0	5.0	unscreened	-	4253_5:140537261-140537261 C>T_VLVCWTPTTTRPLCCTRCRTAPRPA
3:48658421-48658421 G>A	0.0	4253	MELANOMA	-	-	-	-	TMEM89	NM_001008269,p.R112W|uc011bbo.2,p.R112W|ENST00000330862,p.R112W	protein_coding	uc011bbo.2	nonsynonymous SNV	exon2	c.C334T	p.R112W	PQVTTEPCGPWKRRAPISDHTLLRG	PQVTTEPCGPWKWRAPISDHTLLRG	4.0	2.0	unscreened	-	4253_3:48658421-48658421 G>A_PQVTTEPCGPWKWRAPISDHTLLRG
10:20290895-20290895 G>A	0.0	4253	MELANOMA	-	-	-	-	PLXDC2	NM_032812,p.D102N|ENST00000377252,p.D102N|uc001iqg.1,p.D102N	protein_coding	uc001iqg.1	nonsynonymous SNV	exon2	c.G304A	p.D102N	RSFTDLLLDDGQDNNTQIEEDTDHN	RSFTDLLLDDGQNNNTQIEEDTDHN	7.0	10.0	unscreened	-	4253_10:20290895-20290895 G>A_RSFTDLLLDDGQNNNTQIEEDTDHN
18:61264374-61264374 G>A	0.0	4253	MELANOMA	-	-	-	-	SERPINB13	uc010xep.2,p.G327E|ENST00000344731,p.G318E|uc002ljc.3,p.G318E|ENST00000269489,p.G266E|uc002ljd.3,p.G182E|uc010xer.2,p.G139E|NM_012397,p.G318E|uc010xeq.2,p.G139E	retained_intron, protein_coding, nonsense_mediated_decay	uc010xer.2	nonsynonymous SNV	exon6	c.G416A	p.G139E	GDAFSEHKADYSGMSSGSGLYAQKF	GDAFSEHKADYSEMSSGSGLYAQKF	1.0	3.0	unscreened	-	4253_18:61264374-61264374 G>A_GDAFSEHKADYSEMSSGSGLYAQKF
4:123147970-123147970 C>T	0.0	4253	MELANOMA	-	-	-	-	KIAA1109	uc003iei.1,p.R721C|ENST00000388738,p.R968C|uc003ieh.3,p.R968C|ENST00000264501,p.R968C|NM_015312,p.R968C|ENST00000455637,p.R968C|uc010ins.1,p.R311C	retained_intron, protein_coding, processed_transcript	uc010ins.1	nonsynonymous SNV	exon13	c.C931T	p.R311C	PKSVIICQHGIDRRFCESKLSCIPG	PKSVIICQHGIDCRFCESKLSCIPG	7.0	8.0	unscreened	-	4253_4:123147970-123147970 C>T_PKSVIICQHGIDCRFCESKLSCIPG
6:39507890-39507890 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1487731,COSM1487732;OCCURENCE=1(breast)	-	KIF6	uc003oot.2,p.R512C|uc010jxa.1,p.R303C|ENST00000287152,p.R512C|ENST00000373213,p.R351C|ENST00000373216,p.R512C|ENST00000373215,p.R512C|NM_145027,p.R512C|NM_001289020,p.R512C|uc011dua.1,p.R512C	protein_coding, processed_transcript	uc011dua.1	nonsynonymous SNV	exon13	c.C1534T	p.R512C	RREFRQSQSPPFRLGNPEEGQRMRL	RREFRQSQSPPFCLGNPEEGQRMRL	6.0	1.0	unscreened	-	4253_6:39507890-39507890 G>A_RREFRQSQSPPFCLGNPEEGQRMRL
3:7494332-7494332 G>A	0.0	4253	MELANOMA	-	-	-	-	GRM7	ENST00000403881,p.E405K|uc003bql.2,p.E405K|NM_181874,p.E405K|ENST00000440923,p.E405K|ENST00000389336,p.E405K|ENST00000389335,p.E405K|ENST00000357716,p.E405K|ENST00000402647,p.E405K|uc003bqm.2,p.E405K|uc010hcg.2,p.E405K|ENST00000486284,p.E405K|ENST00000467425,p.E405K|NM_000844,p.E405K|ENST00000445087,p.E62K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hcg.2	nonsynonymous SNV	exon6	c.G1213A	p.E405K	QERIGKDSNYEQEGKVQFVIDAVYA	QERIGKDSNYEQKGKVQFVIDAVYA	4.0	9.0	unscreened	-	4253_3:7494332-7494332 G>A_QERIGKDSNYEQKGKVQFVIDAVYA
X:118892910-118892935 GCCGAGGAGCTGGGCGGGCCGAGTGG>-	0.0	4253	MELANOMA	-	-	-	-	SOWAHD	uc010nql.3,p.A94fs|NM_001105576,p.A94fs|ENST00000343905,p.A94fs	protein_coding	uc010nql.3	frameshift deletion	exon1	c.280_305del	p.A94fs	RAAPAGWLSEERAEELGGPSGPGSS	RAAPAGWLSEERAGQQQAVPGTAGARVDSGSRRGPL	6.0	9.0	unscreened	-	4253_X:118892910-118892935 GCCGAGGAGCTGGGCGGGCCGAGTGG>-_RAAPAGWLSEERAGQQQAVPGTAGARVDSGSRRGPL
14:64988812-64988812 C>T	1.0	4253	MELANOMA	-	-	ID=COSM698985,COSM698984;OCCURENCE=1(lung)	-	ZBTB1	ENST00000358738,p.S197F|NM_001123329,p.S197F|ENST00000554015,p.S197F|uc010aqg.3,p.S197F|NM_014950,p.S197F|ENST00000394712,p.S197F|uc001xhi.2,p.S197F|uc001xhh.4,p.S197F|uc021rul.1,p.S197F	protein_coding, processed_transcript	uc021rul.1	nonsynonymous SNV	exon1	c.C590T	p.S197F	FPEPLFDVCKKSSVSKLSTPKERVS	FPEPLFDVCKKSFVSKLSTPKERVS	8.0	1.0	unscreened	-	4253_14:64988812-64988812 C>T_FPEPLFDVCKKSFVSKLSTPKERVS
3:172835470-172835470 G>A	0.0	4253	MELANOMA	-	-	-	-	SPATA16	NM_031955,p.H18Y|ENST00000351008,p.H18Y|uc003fin.4,p.H18Y	protein_coding	uc003fin.4	nonsynonymous SNV	exon2	c.C52T	p.H18Y	SRSLENAVNRIYHDQLVPKINTSKK	SRSLENAVNRIYYDQLVPKINTSKK	2.0	9.0	unscreened	-	4253_3:172835470-172835470 G>A_SRSLENAVNRIYYDQLVPKINTSKK
6:30078433-30078433 T>C	0.0	4253	MELANOMA	-	-	-	-	TRIM31	NM_007028,p.Q179R|ENST00000540829,p.Q179R|ENST00000376734,p.Q179R|uc003npg.1,p.Q179R	retained_intron, protein_coding, processed_transcript	uc003npg.1	nonsynonymous SNV	exon4	c.A536G	p.Q179R	VDVFTDQVEHEKQRILTEFELLHQV	VDVFTDQVEHEKRRILTEFELLHQV	2.0	5.0	unscreened	-	4253_6:30078433-30078433 T>C_VDVFTDQVEHEKRRILTEFELLHQV
5:6449290-6449290 G>A	0.0	4253	MELANOMA	-	-	-	-	UBE2QL1	ENST00000399816,p.R95H|NM_001145161,p.R95H|uc003jdp.4,p.R95H	protein_coding	uc003jdp.4	nonsynonymous SNV	exon1	c.G284A	p.R95H	DGGAICMELLTPRGWSSAYTVEAVM	DGGAICMELLTPHGWSSAYTVEAVM	4.0	1.0	unscreened	-	4253_5:6449290-6449290 G>A_DGGAICMELLTPHGWSSAYTVEAVM
11:64545815-64545815 C>T	0.0	4253	MELANOMA	-	-	-	-	SF1	ENST00000377387,p.G17E|NM_001178030,p.G17E|uc001oaz.2,p.G17E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001oaz.2	nonsynonymous SNV	exon1	c.G50A	p.G17E	ANATPLGKLGPPGLPPLPGPKGGFE	ANATPLGKLGPPELPPLPGPKGGFE	9.0	2.0	unscreened	-	4253_11:64545815-64545815 C>T_ANATPLGKLGPPELPPLPGPKGGFE
10:95372582-95372582 G>A	0.0	4253	MELANOMA	-	-	-	-	PDE6C	NM_006204,p.G34R|uc001kiu.4,p.G34R|ENST00000371447,p.G34R	protein_coding, processed_transcript	uc001kiu.4	nonsynonymous SNV	exon1	c.G100A	p.G34R	EYFDRKLRVEVLGEIFKNSQVPVQS	EYFDRKLRVEVLREIFKNSQVPVQS	1.0	10.0	unscreened	-	4253_10:95372582-95372582 G>A_EYFDRKLRVEVLREIFKNSQVPVQS
16:67469901-67469901 G>A	0.0	4253	MELANOMA	-	-	-	-	HSD11B2	ENST00000326152,p.V174I|uc002etd.3,p.V174I|NM_000196,p.V174I	retained_intron, protein_coding, processed_transcript	uc002etd.3	nonsynonymous SNV	exon3	c.G520A	p.V174I	WGLVNNAGHNEVVADAELSPVATFR	WGLVNNAGHNEVIADAELSPVATFR	5.0	5.0	unscreened	-	4253_16:67469901-67469901 G>A_WGLVNNAGHNEVIADAELSPVATFR
5:13737534-13737534 T>A	0.0	4253	MELANOMA	-	-	-	-	DNAH5	ENST00000265104,p.E3761V|uc003jfd.2,p.E3761V|NM_001369,p.E3761V	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon66	c.A11282T	p.E3761V	DVTANKRRMKELEDNLLYRLTSTQG	DVTANKRRMKELVDNLLYRLTSTQG	3.0	6.0	unscreened	-	4253_5:13737534-13737534 T>A_DVTANKRRMKELVDNLLYRLTSTQG
X:69647167-69647167 G>A	0.0	4253	MELANOMA	-	-	-	-	GDPD2	uc004dyh.3,p.D264N|NM_001171192,p.D264N|NM_001171191,p.D185N|ENST00000536730,p.D185N|uc011mpl.2,p.D185N|ENST00000374382,p.D264N|uc010nky.2,p.D50N|NM_001171193,p.D185N|uc011mpm.2,p.D185N|ENST00000453994,p.D264N|ENST00000538649,p.D185N|NM_017711,p.D264N|uc011mpk.2,p.D264N	protein_coding, processed_transcript	uc011mpm.2	nonsynonymous SNV	exon8	c.G553A	p.D185N	ATVFETDVMVSSDGVPFLMHDEHLS	ATVFETDVMVSSNGVPFLMHDEHLS	3.0	1.0	unscreened	-	4253_X:69647167-69647167 G>A_ATVFETDVMVSSNGVPFLMHDEHLS
21:33719694-33719694 C>T	1.0	4253	MELANOMA	-	-	-	-	URB1	uc002ypn.2,p.E1147K|ENST00000382751,p.E1147K|NM_014825,p.E1147K	retained_intron, protein_coding, processed_transcript	uc002ypn.2	nonsynonymous SNV	exon22	c.G3439A	p.E1147K	LVTQQPTKSPGKERHLNALGKTLVQ	LVTQQPTKSPGKKRHLNALGKTLVQ	7.0	7.0	unscreened	-	4253_21:33719694-33719694 C>T_LVTQQPTKSPGKKRHLNALGKTLVQ
19:42383667-42383667 G>A	0.0	4253	MELANOMA	-	-	-	1	CD79A	NM_001783,p.E148K|NM_021601,p.E110K|uc002orv.3,p.E148K|ENST00000444740,p.E110K|ENST00000221972,p.E148K|uc002oru.3,p.E110K	protein_coding	uc002orv.3	nonsynonymous SNV	exon3	c.G442A	p.E148K	MGEGTKNRIITAEGIILLFCAVVPG	MGEGTKNRIITAKGIILLFCAVVPG	5.0	2.0	unscreened	-	4253_19:42383667-42383667 G>A_MGEGTKNRIITAKGIILLFCAVVPG
5:147928375-147928375 G>A	0.0	4253	MELANOMA	-	-	-	-	HTR4	ENST00000522588,p.S70L|ENST00000517929,p.S70L|uc021yfj.1,p.S70L|NM_000870,p.S70L|NM_001040169,p.S70L|ENST00000377888,p.S70L|uc021yfh.1,p.S70L|ENST00000362016,p.S70L|ENST00000520514,p.S70L|uc003lpn.3,p.S70L|uc021yfg.1,p.S70L|NM_001040172,p.S70L|ENST00000524063,p.S70L|uc021yfi.1,p.S70L|NM_001040173,p.S70L|NM_199453,p.S70L|ENST00000360693,p.S70L|uc011dby.1,p.S70L|ENST00000521735,p.S70L|uc021yfk.1,p.S70L|NM_001286410,p.S70L|ENST00000314512,p.S70L|ENST00000521530,p.S70L|ENST00000354217,p.S70L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021yfk.1	nonsynonymous SNV	exon3	c.C209T	p.S70L	FIVSLAFADLLVSVLVMPFGAIELV	FIVSLAFADLLVLVLVMPFGAIELV	1.0	7.0	unscreened	-	4253_5:147928375-147928375 G>A_FIVSLAFADLLVLVLVMPFGAIELV
3:11064062-11064062 G>T	0.0	4253	MELANOMA	-	-	-	-	SLC6A1	ENST00000536032,p.G30C|NM_003042,p.G208C|uc031ryl.1,p.G30C|uc010hdq.3,p.G208C|ENST00000287766,p.G208C	retained_intron, protein_coding, processed_transcript	uc031ryl.1	nonsynonymous SNV	exon4	c.G88T	p.G30C	NMHQMTDGLDKPGQIRWPLAITLAI	NMHQMTDGLDKPCQIRWPLAITLAI	2.0	1.0	unscreened	-	4253_3:11064062-11064062 G>T_NMHQMTDGLDKPCQIRWPLAITLAI
3:150661662-150661662 C>T	0.0	4253	MELANOMA	-	-	-	-	CLRN1	NM_001256819,p.G124S|uc031sbx.1,p.G124S	-	uc031sbx.1	nonsynonymous SNV	exon2	c.G370A	p.G124S	REHTSERVQEPAGCFSAVRSKLHAG	REHTSERVQEPASCFSAVRSKLHAG	3.0	1.0	unscreened	-	4253_3:150661662-150661662 C>T_REHTSERVQEPASCFSAVRSKLHAG
9:125551254-125551254 G>A	0.0	4253	MELANOMA	-	-	-	-	OR5C1	uc011lzd.2,p.E15K|ENST00000373680,p.E15K|NM_001001923,p.E15K	protein_coding	uc011lzd.2	nonsynonymous SNV	exon1	c.G43A	p.E15K	SENLTRAAVAPAEFVLLGITNRWDL	SENLTRAAVAPAKFVLLGITNRWDL	1.0	10.0	unscreened	-	4253_9:125551254-125551254 G>A_SENLTRAAVAPAKFVLLGITNRWDL
11:4843204-4843204 G>A	0.0	4253	MELANOMA	-	-	-	-	OR51F2	uc010qyn.2,p.D197N|ENST00000322110,p.D197N|NM_001004753,p.D197N	protein_coding	uc010qyn.2	nonsynonymous SNV	exon1	c.G589A	p.D197N	SMVLSHSYCYHVDLIQLSCTDNRIN	SMVLSHSYCYHVNLIQLSCTDNRIN	1.0	8.0	unscreened	-	4253_11:4843204-4843204 G>A_SMVLSHSYCYHVNLIQLSCTDNRIN
10:98817027-98817027 C>T	0.0	4253	MELANOMA	-	-	-	-	SLIT1	uc001kmw.2,p.G366E|NM_003061,p.G366E|ENST00000371070,p.G366E|uc009xvh.1,p.G376E|ENST00000314867,p.G359E|ENST00000266058,p.G366E	protein_coding, processed_transcript	uc009xvh.1	nonsynonymous SNV	exon12	c.G1127A	p.G376E	QGLRSLNSLVLYGNKITDLPRGVFG	QGLRSLNSLVLYENKITDLPRGVFG	4.0	10.0	unscreened	-	4253_10:98817027-98817027 C>T_QGLRSLNSLVLYENKITDLPRGVFG
17:38285836-38285836 T>C	1.0	4253	MELANOMA	-	-	-	-	MSL1	uc002huc.2,p.L181S|ENST00000579565,p.L181S|ENST00000582884,p.L118S|uc002hub.3,p.L243S|NM_001012241,p.L181S|ENST00000578648,p.L444S|ENST00000577454,p.L444S|ENST00000398532,p.L444S|uc002hua.4,p.L181S	retained_intron, protein_coding, nonsense_mediated_decay	uc002huc.2	nonsynonymous SNV	exon2	c.T542C	p.L181S	YLCRWHQPPPSPLPLRESSPKKEET	YLCRWHQPPPSPSPLRESSPKKEET	9.0	10.0	unscreened	-	4253_17:38285836-38285836 T>C_YLCRWHQPPPSPSPLRESSPKKEET
1:65099895-65099895 G>A	0.0	4253	MELANOMA	-	-	-	-	CACHD1	NM_001293274,p.A24T|ENST00000371073,p.A320T|uc001dbo.1,p.A269T|uc001dbq.1,p.A24T|ENST00000290039,p.A269T|NM_020925,p.A269T|uc001dbp.1,p.A24T	retained_intron, protein_coding, processed_transcript	uc001dbq.1	nonsynonymous SNV	exon7	c.G70A	p.A24T	DSPTQHAVGFQKAFQLIRSTNNNTK	DSPTQHAVGFQKTFQLIRSTNNNTK	5.0	5.0	unscreened	-	4253_1:65099895-65099895 G>A_DSPTQHAVGFQKTFQLIRSTNNNTK
1:86334481-86334481 C>T	1.0	4253	MELANOMA	-	-	-	-	COL24A1	uc001dli.3,p.G195E|ENST00000436319,p.G1059E|uc001dlj.3,p.G1059E|uc010osd.2,p.G359E|NM_152890,p.G1059E|ENST00000370571,p.G1059E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010osd.2	nonsynonymous SNV	exon36	c.G1076A	p.G359E	GEPGAPGEEGLQGKDGLKGVPGGRG	GEPGAPGEEGLQEKDGLKGVPGGRG	5.0	10.0	unscreened	-	4253_1:86334481-86334481 C>T_GEPGAPGEEGLQEKDGLKGVPGGRG
12:125587238-125587238 G>A	0.0	4253	MELANOMA	-	-	-	-	AACS	uc001uhd.3,p.R195Q|ENST00000537477,p.R26Q|ENST00000316519,p.R195Q|uc001uhc.3,p.R195Q|NM_023928,p.R195Q|ENST00000261686,p.R195Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc001uhd.3	nonsynonymous SNV	exon6	c.G584A	p.R195Q	TSPDFGVNGVLDRFSQIQPKLIFSV	TSPDFGVNGVLDQFSQIQPKLIFSV	8.0	5.0	unscreened	-	4253_12:125587238-125587238 G>A_TSPDFGVNGVLDQFSQIQPKLIFSV
6:146350952-146350952 C>T	0.0	4253	MELANOMA	-	-	-	-	GRM1	ENST00000282753,p.T100I|uc010khu.1,p.T100I|NM_001278064,p.T100I|uc003qll.3,p.T100I|ENST00000361719,p.T100I|ENST00000507907,p.T100I|NM_001278067,p.T100I|NM_001278066,p.T100I|ENST00000492807,p.T100I|uc011eea.2,p.T100I|ENST00000392299,p.T100I|ENST00000355289,p.T100I|NM_001278065,p.T100I|uc010khv.2,p.T100I|uc011edz.2,p.T100I|uc010khw.2,p.T100I	retained_intron, protein_coding	uc011eea.2	nonsynonymous SNV	exon1	c.C299T	p.T100I	KINADPVLLPNITLGSEIRDSCWHS	KINADPVLLPNIILGSEIRDSCWHS	3.0	10.0	unscreened	-	4253_6:146350952-146350952 C>T_KINADPVLLPNIILGSEIRDSCWHS
6:138642343-138642343 G>A	0.0	4253	MELANOMA	-	-	-	-	KIAA1244	uc003qhu.3,p.V1583M|ENST00000251691,p.V1583M|NM_020340,p.V1583M	protein_coding	uc003qhu.3	nonsynonymous SNV	exon29	c.G4747A	p.V1583M	ACVAKPTETISRVGCSCIRYVLVTA	ACVAKPTETISRMGCSCIRYVLVTA	5.0	9.0	unscreened	-	4253_6:138642343-138642343 G>A_ACVAKPTETISRMGCSCIRYVLVTA
20:61981703-61981703 G>A	0.0	4253	MELANOMA	-	-	-	-	CHRNA4	uc002yev.2,p.R178C|uc002yet.2,p.R178C|uc010gkf.2,p.R178C|NM_001256573,p.R178C|NM_000744,p.R354C|ENST00000370263,p.R354C|uc002yes.3,p.R354C|uc010gke.1,p.R283C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010gkf.2	nonsynonymous SNV	exon5	c.C532T	p.R178C	TWVRRVFLDIVPRLLLMKRPSVVKD	TWVRRVFLDIVPCLLLMKRPSVVKD	1.0	4.0	unscreened	-	4253_20:61981703-61981703 G>A_TWVRRVFLDIVPCLLLMKRPSVVKD
12:117768636-117768636 G>A	0.0	4253	MELANOMA	-	-	-	-	NOS1	NM_001204218,p.A80V|ENST00000344089,p.A80V|uc001twn.2,p.A80V|ENST00000317775,p.A80V|uc001twm.2,p.A80V|ENST00000338101,p.A80V|NM_000620,p.A80V	protein_coding, processed_transcript	uc001twn.2	nonsynonymous SNV	exon2	c.C239T	p.A80V	NGRPLVDLSYDSALEVLRGIASETH	NGRPLVDLSYDSVLEVLRGIASETH	1.0	7.0	unscreened	-	4253_12:117768636-117768636 G>A_NGRPLVDLSYDSVLEVLRGIASETH
19:54080271-54080271 C>T	0.0	4253	MELANOMA	-	-	-	1	ZNF331	uc002qby.1,p.H153Y|NM_001253799,p.H153Y|uc002qca.1,p.H153Y|ENST00000512387,p.H153Y|uc021uzh.1,p.H153Y|ENST00000513999,p.H153Y|NM_001253798,p.H153Y|uc002qbz.1,p.H153Y|ENST00000253144,p.H153Y|ENST00000511593,p.H153Y|ENST00000511154,p.H153Y|uc002qcd.1,p.H153Y|NM_001079906,p.H153Y|ENST00000449416,p.H153Y|NM_018555,p.H153Y|uc002qcc.1,p.H153Y|uc002qcb.1,p.H153Y|ENST00000411977,p.H153Y|NM_001079907,p.H153Y|NM_001253800,p.H153Y|uc021uzg.1,p.H153Y|uc010eqr.1,p.H153Y|uc002qbx.1,p.H153Y|ENST00000505949,p.H153Y|ENST00000514022,p.H153Y|NM_001253801,p.H153Y	retained_intron, protein_coding, processed_transcript	uc021uzh.1	nonsynonymous SNV	exon6	c.C457T	p.H153Y	SRGYQLSQHQKIHTGEKPYECKECK	SRGYQLSQHQKIYTGEKPYECKECK	8.0	1.0	unscreened	-	4253_19:54080271-54080271 C>T_SRGYQLSQHQKIYTGEKPYECKECK
18:28986090-28986090 G>A	0.0	4253	MELANOMA	-	-	-	-	DSG4	uc002kwr.2,p.E563K|uc002kwq.2,p.E563K|NM_001134453,p.E563K|ENST00000308128,p.E563K|ENST00000359747,p.E563K|NM_177986,p.E563K	protein_coding	uc002kwr.2	nonsynonymous SNV	exon12	c.G1687A	p.E563K	LTAKQVLSPGFYEIPILVKDSYNRA	LTAKQVLSPGFYKIPILVKDSYNRA	1.0	6.0	unscreened	-	4253_18:28986090-28986090 G>A_LTAKQVLSPGFYKIPILVKDSYNRA
22:38120776-38120776 C>T	0.0	4253	MELANOMA	-	-	-	-	TRIOBP	uc003atu.3,p.T566I|uc003atr.3,p.T738I|NM_001039141,p.T738I|uc003ats.1,p.T566I|ENST00000406386,p.T738I|uc003atq.1,p.T738I	retained_intron, protein_coding, nonsense_mediated_decay	uc003atu.3	nonsynonymous SNV	exon5	c.C1697T	p.T566I	RRDNPRASSRNRTIQRDNPRTSCAQ	RRDNPRASSRNRIIQRDNPRTSCAQ	9.0	10.0	unscreened	-	4253_22:38120776-38120776 C>T_RRDNPRASSRNRIIQRDNPRTSCAQ
2:234627728-234627728 G>A	0.0	4253	MELANOMA	-	-	-	-	UGT1A4	uc002vux.3,p.E88K|ENST00000373409,p.E88K|NM_007120,p.E88K|ENST00000450233,p.E88K|uc010zna.1,p.E88K	protein_coding, nonsense_mediated_decay	uc010zna.1	nonsynonymous SNV	exon1	c.G262A	p.E88K	TLTAYAVPWTQKEFDRVTLGYTQGF	TLTAYAVPWTQKKFDRVTLGYTQGF	1.0	10.0	unscreened	-	4253_2:234627728-234627728 G>A_TLTAYAVPWTQKKFDRVTLGYTQGF
16:20429384-20429384 G>A	0.0	4253	MELANOMA	-	-	-	-	ACSM5	uc002dhd.1,p.G70R|ENST00000575584,p.G70R|ENST00000331849,p.G70R|NM_017888,p.G70R|uc002dhe.3,p.G70R	retained_intron, protein_coding, nonsense_mediated_decay	uc002dhe.3	nonsynonymous SNV	exon3	c.G208A	p.G70R	DVLDVWSRLEEAGHRPPNPAFWWVN	DVLDVWSRLEEARHRPPNPAFWWVN	6.0	4.0	unscreened	-	4253_16:20429384-20429384 G>A_DVLDVWSRLEEARHRPPNPAFWWVN
16:18896426-18896426 G>A	0.0	4253	MELANOMA	-	-	-	-	SMG1	ENST00000389467,p.T336M|ENST00000565224,p.T310M|ENST00000532700,p.T310M|ENST00000565324,p.T226M|ENST00000446231,p.T336M|NM_015092,p.T336M|uc010bwb.3,p.T196M|uc002dfm.3,p.T336M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bwb.3	nonsynonymous SNV	exon6	c.C587T	p.T196M	GWHIDHTQKPSLTQQVSGWLQSLEP	GWHIDHTQKPSLMQQVSGWLQSLEP	7.0	4.0	unscreened	-	4253_16:18896426-18896426 G>A_GWHIDHTQKPSLMQQVSGWLQSLEP
6:33163200-33163200 C>T	1.0	4253	MELANOMA	-	-	-	-	RXRB	ENST00000374680,p.D430N|uc003odb.4,p.D430N|NM_021976,p.D430N	retained_intron, protein_coding, nonsense_mediated_decay	uc003odb.4	nonsynonymous SNV	exon8	c.G1288A	p.D430N	DRVLTELVSKMRDMRMDKTELGCLR	DRVLTELVSKMRNMRMDKTELGCLR	9.0	3.0	unscreened	-	4253_6:33163200-33163200 C>T_DRVLTELVSKMRNMRMDKTELGCLR
6:33163200-33163200 C>T	1.0	4253	MELANOMA	-	-	-	-	RXRB	NM_001270401,p.D434N|NM_001291989,p.D244N|uc003odc.4,p.D434N|uc011dqr.3,p.D244N|ENST00000374685,p.D434N|ENST00000544186,p.D244N	retained_intron, protein_coding, nonsense_mediated_decay	uc011dqr.3	nonsynonymous SNV	exon7	c.G730A	p.D244N	SRVLTELVSKMRDMRMDKTELGCLR	SRVLTELVSKMRNMRMDKTELGCLR	9.0	3.0	unscreened	-	4253_6:33163200-33163200 C>T_SRVLTELVSKMRNMRMDKTELGCLR
12:43887055-43887055 A>G	0.0	4253	MELANOMA	-	-	-	-	ADAMTS20	uc010skx.2,p.V290A|ENST00000389420,p.V290A|ENST00000553158,p.V290A|NM_025003,p.V290A	protein_coding	uc010skx.2	nonsynonymous SNV	exon5	c.T869C	p.V290A	NLQNYILTLMSIVATIYKDPSIGNL	NLQNYILTLMSIAATIYKDPSIGNL	4.0	9.0	unscreened	-	4253_12:43887055-43887055 A>G_NLQNYILTLMSIAATIYKDPSIGNL
11:58477363-58477363 T>A	0.0	4253	MELANOMA	-	-	-	-	GLYAT	ENST00000344743,p.K256I|ENST00000529732,p.K256I|uc001nnb.3,p.K256I|NM_201648,p.K256I	retained_intron, protein_coding	uc001nnb.3	nonsynonymous SNV	exon6	c.A767T	p.K256I	TYVIYSHAQKLGKLGFPVYSHVDYS	TYVIYSHAQKLGILGFPVYSHVDYS	1.0	8.0	unscreened	-	4253_11:58477363-58477363 T>A_TYVIYSHAQKLGILGFPVYSHVDYS
3:167250699-167250699 G>A	0.0	4253	MELANOMA	-	-	-	-	WDR49	ENST00000453925,p.P386L|NM_178824,p.P322L|uc003fev.1,p.P322L|uc011bpd.1,p.P386L|ENST00000476376,p.P147L|ENST00000308378,p.P322L|uc003feu.1,p.P147L	protein_coding, nonsense_mediated_decay	uc011bpd.1	nonsynonymous SNV	exon8	c.C1157T	p.P386L	NNSTENAHHVLHPDYQRLLKSKLDT	NNSTENAHHVLHLDYQRLLKSKLDT	1.0	2.0	unscreened	-	4253_3:167250699-167250699 G>A_NNSTENAHHVLHLDYQRLLKSKLDT
2:107460402-107460402 C>T	0.0	4253	MELANOMA	-	-	ID=COSM164617;OCCURENCE=1(endometrium),1(breast),2(skin)	-	ST6GAL2	ENST00000409087,p.R11Q|uc002tds.3,p.R11Q|ENST00000419159,p.R11Q|NM_032528,p.R11Q|ENST00000409382,p.R11Q|uc002tdq.3,p.R11Q|NM_001142351,p.R11Q|NM_001142352,p.R11Q|ENST00000361686,p.R11Q|uc002tdr.3,p.R11Q	protein_coding	uc002tds.3	nonsynonymous SNV	exon2	c.G32A	p.R11Q	MKPHLKQWRQRMLFGIFAWGLLF	MKPHLKQWRQQMLFGIFAWGLLF	4.0	1.0	unscreened	-	4253_2:107460402-107460402 C>T_MKPHLKQWRQQMLFGIFAWGLLF
11:117332199-117332199 G>A	0.0	4253	MELANOMA	-	-	-	-	DSCAML1	ENST00000527706,p.R917W|uc001prh.1,p.R1187W|ENST00000321322,p.R1187W|NM_020693,p.R1187W	protein_coding	uc001prh.1	nonsynonymous SNV	exon18	c.C3559T	p.R1187W	PRSTLNGVLKGYRVIFWSLYVDGEW	PRSTLNGVLKGYWVIFWSLYVDGEW	2.0	3.0	unscreened	-	4253_11:117332199-117332199 G>A_PRSTLNGVLKGYWVIFWSLYVDGEW
19:9065238-9065238 G>A	0.0	4253	MELANOMA	-	-	-	2	MUC16	NM_024690,p.S7403L|uc002mkp.3,p.S7403L|ENST00000397910,p.S7403L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C22208T	p.S7403L	PPSSQLSLSAMISPSPVSSTLPASS	PPSSQLSLSAMILPSPVSSTLPASS	2.0	3.0	unscreened	-	4253_19:9065238-9065238 G>A_PPSSQLSLSAMILPSPVSSTLPASS
2:84896426-84896426 G>A	0.0	4253	MELANOMA	-	-	-	-	DNAH6	ENST00000398278,p.G2033D|uc010fgb.3,p.G2033D|NM_001370,p.G2033D|ENST00000602588,p.G54D|ENST00000389394,p.G2033D|uc002sor.3,p.G54D|ENST00000237449,p.G2033D	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon38	c.G6098A	p.G2033D	FDDNPDARLPNSGDLWSIHMDFDTK	FDDNPDARLPNSDDLWSIHMDFDTK	4.0	1.0	unscreened	-	4253_2:84896426-84896426 G>A_FDDNPDARLPNSDDLWSIHMDFDTK
19:2986985-2986985 C>T	0.0	4253	MELANOMA	-	-	-	-	TLE6	uc002lwt.2,p.S97L|ENST00000453329,p.S97L|ENST00000246112,p.S97L|NM_001143986,p.S97L	retained_intron, protein_coding, processed_transcript	uc002lwt.2	nonsynonymous SNV	exon7	c.C290T	p.S97L	CSQLQGFQSEEVSPAEPASPGTPQQ	CSQLQGFQSEEVLPAEPASPGTPQQ	7.0	8.0	unscreened	-	4253_19:2986985-2986985 C>T_CSQLQGFQSEEVLPAEPASPGTPQQ
X:47106478-47106478 C>T	1.0	4253	MELANOMA	-	-	-	-	USP11	uc004dhp.3,p.P803S|uc004dhq.3,p.P529S|NM_004651,p.P803S|ENST00000218348,p.P803S|ENST00000377107,p.P760S	retained_intron, protein_coding	uc004dhq.3	nonsynonymous SNV	exon16	c.C1585T	p.P529S	VETLEKENPWYCPSCKQHQLATKKL	VETLEKENPWYCSSCKQHQLATKKL	10.0	10.0	unscreened	-	4253_X:47106478-47106478 C>T_VETLEKENPWYCSSCKQHQLATKKL
7:73459596-73459596 G>A	0.0	4253	MELANOMA	-	-	-	2	ELN	ENST00000429192,p.G177R|uc003tzn.3,p.G172R|ENST00000414324,p.G167R|uc011kff.2,p.G172R|uc003tzw.3,p.G172R|uc003tzt.3,p.G177R|NM_001278912,p.G172R|ENST00000358929,p.G172R|ENST00000445912,p.G172R|ENST00000380575,p.G162R|uc003tzs.3,p.G172R|uc003tzy.3,p.G167R|uc003tzv.3,p.G162R|ENST00000252034,p.G172R|ENST00000458204,p.G162R|NM_001278914,p.G167R|ENST00000380562,p.G172R|NM_001081754,p.G177R|NM_001081753,p.G177R|NM_000501,p.G172R|uc003tzx.3,p.G162R|NM_001278917,p.G162R|NM_001278939,p.G172R|ENST00000380584,p.G172R|ENST00000357036,p.G177R|NM_001278915,p.G172R|NM_001081752,p.G162R|NM_001081755,p.G172R|uc003tzu.3,p.G177R|ENST00000380576,p.G172R|NM_001278916,p.G172R|uc003tzo.3,p.G172R|ENST00000320399,p.G172R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kff.2	nonsynonymous SNV	exon10	c.G514A	p.G172R	FPGVGVLPGVPTGAGVKPKAPGVGG	FPGVGVLPGVPTRAGVKPKAPGVGG	6.0	4.0	unscreened	-	4253_7:73459596-73459596 G>A_FPGVGVLPGVPTRAGVKPKAPGVGG
7:73459596-73459596 G>A	0.0	4253	MELANOMA	-	-	-	2	ELN	NM_001278913,p.G160R|uc003tzz.3,p.G160R|ENST00000320492,p.G160R|ENST00000438906,p.G160R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tzz.3	nonsynonymous SNV	exon9	c.G478A	p.G160R	FPGVGVLPGVPTGAGVKPKAPGVGP	FPGVGVLPGVPTRAGVKPKAPGVGP	6.0	4.0	unscreened	-	4253_7:73459596-73459596 G>A_FPGVGVLPGVPTRAGVKPKAPGVGP
11:16816148-16816148 C>T	0.0	4253	MELANOMA	-	-	-	-	PLEKHA7	ENST00000448080,p.E878K|uc010rcv.2,p.E452K|ENST00000355661,p.E878K|uc010rcu.1,p.E878K|uc001mmo.3,p.E878K|uc001mmn.3,p.E586K|ENST00000531066,p.E878K|NM_175058,p.E878K	retained_intron, protein_coding, processed_transcript	uc010rcv.2	nonsynonymous SNV	exon9	c.G1354A	p.E452K	PSPPTSPVRTPLEVRLFPQLQTYVP	PSPPTSPVRTPLKVRLFPQLQTYVP	4.0	2.0	unscreened	-	4253_11:16816148-16816148 C>T_PSPPTSPVRTPLKVRLFPQLQTYVP
X:124028170-124028170 C>T	0.0	4253	MELANOMA	-	-	-	-	TENM1	uc011muj.2,p.M170I|ENST00000422452,p.M170I|NM_001163279,p.M170I|uc004euj.3,p.M170I|ENST00000371130,p.M170I|NM_014253,p.M170I|uc010nqy.3,p.M170I|NM_001163278,p.M170I	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon3	c.G510A	p.M170I	ENGFKFSPVCCDMEAQAGSTQDVQS	ENGFKFSPVCCDIEAQAGSTQDVQS	3.0	10.0	unscreened	-	4253_X:124028170-124028170 C>T_ENGFKFSPVCCDIEAQAGSTQDVQS
6:152770726-152770726 C>T	0.0	4253	MELANOMA	-	-	-	-	SYNE1	uc003qou.4,p.G1149E|ENST00000423061,p.G1156E|ENST00000367253,p.G1149E|ENST00000367248,p.G1139E|NM_033071,p.G1156E|uc003qow.3,p.G444E|NM_182961,p.G1149E|ENST00000367255,p.G1149E|ENST00000341594,p.G1215E|uc003qot.4,p.G1156E|uc010kjb.1,p.G1132E|ENST00000265368,p.G1149E|uc003qox.1,p.G665E|ENST00000413186,p.G1149E|ENST00000448038,p.G1156E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kjb.1	nonsynonymous SNV	exon26	c.G3395A	p.G1132E	SSWISTNETQLKGIKGEAIDTANHG	SSWISTNETQLKEIKGEAIDTANHG	8.0	10.0	unscreened	-	4253_6:152770726-152770726 C>T_SSWISTNETQLKEIKGEAIDTANHG
1:165175158-165175158 G>A	0.0	4253	MELANOMA	-	-	-	-	LMX1A	ENST00000294816,p.P311S|uc001gcw.2,p.P29S|uc021pdz.1,p.P311S|NM_177398,p.P311S|NM_001174069,p.P311S|uc021pdy.1,p.P62S|ENST00000367893,p.P311S|uc001gcz.2,p.P311S|ENST00000342310,p.P311S	protein_coding, processed_transcript	uc021pdz.1	nonsynonymous SNV	exon8	c.C931T	p.P311S	LLAIEQSVYSSDPFRQGLTPPQMPG	LLAIEQSVYSSDSFRQGLTPPQMPG	1.0	2.0	unscreened	-	4253_1:165175158-165175158 G>A_LLAIEQSVYSSDSFRQGLTPPQMPG
8:110450655-110450655 G>A	0.0	4253	MELANOMA	-	-	-	-	PKHD1L1	uc003yne.3,p.D1244N|ENST00000378402,p.D1244N|NM_177531,p.D1244N	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon31	c.G3730A	p.D1244N	FSYNCLQTPIITDFSPKVRTILGEV	FSYNCLQTPIITNFSPKVRTILGEV	1.0	7.0	unscreened	-	4253_8:110450655-110450655 G>A_FSYNCLQTPIITNFSPKVRTILGEV
1:197019857-197019857 C>T	0.0	4253	MELANOMA	-	-	-	-	F13B	NM_001994,p.G570R|ENST00000367412,p.G570R|uc001gtt.1,p.G570R	protein_coding, processed_transcript	uc001gtt.1	nonsynonymous SNV	exon10	c.G1708A	p.G570R	FLEGSREAYCLDGMWTTPPLCLEPC	FLEGSREAYCLDRMWTTPPLCLEPC	1.0	8.0	unscreened	-	4253_1:197019857-197019857 C>T_FLEGSREAYCLDRMWTTPPLCLEPC
1:86557985-86557985 C>T	0.0	4253	MELANOMA	-	-	-	-	COL24A1	ENST00000370571,p.G540R|uc009wcq.3,p.G540R|ENST00000436319,p.G540R|NM_152890,p.G540R|uc001dlj.3,p.G540R|ENST00000426639,p.G540R	protein_coding, processed_transcript, nonsense_mediated_decay	uc009wcq.3	nonsynonymous SNV	exon6	c.G1618A	p.G540R	GLPGPKGPKGDPGFSPGQPVPGEKG	GLPGPKGPKGDPRFSPGQPVPGEKG	5.0	10.0	unscreened	-	4253_1:86557985-86557985 C>T_GLPGPKGPKGDPRFSPGQPVPGEKG
14:65544622-65544622 G>A	1.0	4253	MELANOMA	-	-	-	1	MAX	uc001xij.2,p.P102S|ENST00000556443,p.P93S|ENST00000284165,p.P102S	retained_intron, protein_coding, nonsense_mediated_decay	uc001xij.2	nonsynonymous SNV	exon4	c.C304T	p.P102S	RQNALLEQQGEHPSSWGSWPCCAPA	RQNALLEQQGEHSSSWGSWPCCAPA	10.0	1.0	unscreened	-	4253_14:65544622-65544622 G>A_RQNALLEQQGEHSSSWGSWPCCAPA
19:17436045-17436045 C>T	1.0	4253	MELANOMA	-	-	-	-	ANO8	ENST00000159087,p.D938N|NM_020959,p.D938N|uc002ngf.2,p.D938N	retained_intron, protein_coding, nonsense_mediated_decay	uc002ngf.2	nonsynonymous SNV	exon17	c.G2812A	p.D938N	GREEARAEGSGLDPATSSEKASAKA	GREEARAEGSGLNPATSSEKASAKA	6.0	1.0	unscreened	-	4253_19:17436045-17436045 C>T_GREEARAEGSGLNPATSSEKASAKA
8:69058500-69058500 T>C	0.0	4253	MELANOMA	-	-	-	1	PREX2	NM_024870,p.Y1382H|ENST00000288368,p.Y1382H|uc003xxv.1,p.Y1382H	protein_coding, processed_transcript	uc003xxv.1	nonsynonymous SNV	exon34	c.T4144C	p.Y1382H	AEGSRQALKVYFYIDSYHFEQLPQR	AEGSRQALKVYFHIDSYHFEQLPQR	4.0	1.0	unscreened	-	4253_8:69058500-69058500 T>C_AEGSRQALKVYFHIDSYHFEQLPQR
19:52520226-52520226 C>T	1.0	4253	MELANOMA	-	-	-	-	ZNF614	uc002pyj.3,p.E209K|ENST00000270649,p.E209K|NM_025040,p.E209K	protein_coding, nonsense_mediated_decay	uc002pyj.3	nonsynonymous SNV	exon5	c.G625A	p.E209K	RTQKIEKPHACIECEQTFLRKSQLI	RTQKIEKPHACIKCEQTFLRKSQLI	6.0	9.0	unscreened	-	4253_19:52520226-52520226 C>T_RTQKIEKPHACIKCEQTFLRKSQLI
6:7585276-7585276 C>T	0.0	4253	MELANOMA	-	-	-	-	DSP	uc021yle.1,p.S2151F|ENST00000379802,p.S2594F|uc003mxq.1,p.S1995F|NM_004415,p.S2594F|uc003mxp.1,p.S2594F|ENST00000418664,p.S1995F|NM_001008844,p.S1995F	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon24	c.C6452T	p.S2151F	FSSSRHESVSKISTISSVRNLTIRS	FSSSRHESVSKIFTISSVRNLTIRS	4.0	6.0	unscreened	-	4253_6:7585276-7585276 C>T_FSSSRHESVSKIFTISSVRNLTIRS
14:93119060-93119060 G>A	1.0	4253	MELANOMA	-	-	-	-	RIN3	uc001yaq.3,p.E481K|ENST00000216487,p.E556K|uc010auk.3,p.E218K|uc001yas.1,p.E218K|uc001yap.3,p.E556K|NM_024832,p.E556K|uc001yar.1,p.E218K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010auk.3	nonsynonymous SNV	exon5	c.G652A	p.E218K	ATDQDSYSTSSTEEELEQFSSPSVK	ATDQDSYSTSSTKEELEQFSSPSVK	8.0	1.0	unscreened	-	4253_14:93119060-93119060 G>A_ATDQDSYSTSSTKEELEQFSSPSVK
18:61306433-61306433 C>T	0.0	4253	MELANOMA	0.0005	-	-	-	SERPINB4	ENST00000341074,p.D252N|NM_175041,p.D231N|uc002ljf.3,p.D252N|uc002lje.3,p.D231N|NM_002974,p.D252N	retained_intron, protein_coding	uc002ljf.3	nonsynonymous SNV	exon7	c.G754A	p.D252N	DLSMIVLLPNEIDGLQKLEEKLTAE	DLSMIVLLPNEINGLQKLEEKLTAE	1.0	9.0	unscreened	-	4253_18:61306433-61306433 C>T_DLSMIVLLPNEINGLQKLEEKLTAE
10:101373480-101373480 G>A	1.0	4253	MELANOMA	-	-	-	-	SLC25A28	uc009xwk.1,p.P165S	protein_coding, processed_transcript	uc009xwk.1	nonsynonymous SNV	exon2	c.C493T	p.P165S	EKLKKTLSDVIHPGGNSHIANGIEP	EKLKKTLSDVIHSGGNSHIANGIEP	10.0	10.0	unscreened	-	4253_10:101373480-101373480 G>A_EKLKKTLSDVIHSGGNSHIANGIEP
2:141643902-141643902 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1691114;OCCURENCE=1(skin)	1	LRP1B	ENST00000389484,p.P1257S|NM_018557,p.P1257S|ENST00000434794,p.P402S|uc002tvj.1,p.P1257S|uc010fnl.1,p.P439S	protein_coding, processed_transcript	uc010fnl.1	nonsynonymous SNV	exon9	c.C1315T	p.P439S	LDVDGESCTSVDPFEAFIIFSIRHE	LDVDGESCTSVDSFEAFIIFSIRHE	3.0	9.0	unscreened	-	4253_2:141643902-141643902 G>A_LDVDGESCTSVDSFEAFIIFSIRHE
7:100683702-100683702 C>T	0.0	4253	MELANOMA	-	-	-	-	MUC17	ENST00000379439,p.S3002F|NM_001040105,p.S3002F|uc003uxp.1,p.S3002F|ENST00000306151,p.S3002F	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C9005T	p.S3002F	TSMSVSTMPVASSEASTLSRTPADT	TSMSVSTMPVASFEASTLSRTPADT	1.0	4.0	unscreened	-	4253_7:100683702-100683702 C>T_TSMSVSTMPVASFEASTLSRTPADT
19:38126300-38126300 G>A	0.0	4253	MELANOMA	-	-	-	-	ZFP30	ENST00000392144,p.P381L|uc010xtt.1,p.P380L|uc002ogx.1,p.P381L|uc002ogv.1,p.P381L|NM_014898,p.P381L|uc002ogw.1,p.P381L|ENST00000351218,p.P381L|ENST00000514101,p.P381L	retained_intron, protein_coding, processed_transcript	uc010xtt.1	nonsynonymous SNV	exon6	c.C1139T	p.P380L	LTLHQRIHTGEKPYECKECQKFFRR	LTLHQRIHTGEKLYECKECQKFFRR	7.0	2.0	unscreened	-	4253_19:38126300-38126300 G>A_LTLHQRIHTGEKLYECKECQKFFRR
9:119094729-119094729 G>A	0.0	4253	MELANOMA	-	-	-	-	PAPPA	uc011lxp.1,p.D822N|ENST00000328252,p.D1127N|ENST00000534838,p.D165N|uc011lxq.2,p.D502N|NM_002581,p.D1127N|uc004bjn.3,p.D1127N	protein_coding, processed_transcript	uc011lxq.2	nonsynonymous SNV	exon6	c.G1504A	p.D502N	QETISVQLLDTKDQSHDLGLHVLSC	QETISVQLLDTKNQSHDLGLHVLSC	6.0	10.0	unscreened	-	4253_9:119094729-119094729 G>A_QETISVQLLDTKNQSHDLGLHVLSC
8:12956868-12956868 G>A	1.0	4253	MELANOMA	-	-	-	-	DLC1	uc003wwk.1,p.T556I|uc011kxx.1,p.T482I|ENST00000358919,p.T556I|NM_001164271,p.T482I|ENST00000520226,p.T482I|uc003wwm.2,p.T993I|NM_182643,p.T993I|ENST00000276297,p.T993I|ENST00000512044,p.T590I|NM_006094,p.T556I|uc003wwl.1,p.T590I	retained_intron, protein_coding, processed_transcript	uc011kxx.1	nonsynonymous SNV	exon5	c.C1445T	p.T482I	PERRDSGVGASLTRSNRHRLRWHSF	PERRDSGVGASLIRSNRHRLRWHSF	9.0	5.0	unscreened	-	4253_8:12956868-12956868 G>A_PERRDSGVGASLIRSNRHRLRWHSF
1:159410221-159410221 T>C	0.0	4253	MELANOMA	-	-	-	-	OR10J1	ENST00000423932,p.F225L|NM_012351,p.F225L|uc010piv.2,p.F225L	protein_coding	uc010piv.2	nonsynonymous SNV	exon1	c.T673C	p.F225L	SVLVLVVPMGLVFISYVLIISTILK	SVLVLVVPMGLVLISYVLIISTILK	1.0	7.0	unscreened	-	4253_1:159410221-159410221 T>C_SVLVLVVPMGLVLISYVLIISTILK
18:67563257-67563257 G>A	0.0	4253	MELANOMA	-	-	-	-	CD226	ENST00000280200,p.S136L|uc010dqo.3,p.S136L|NM_006566,p.S136L|ENST00000582621,p.S136L|ENST00000579496,p.S136L|uc002lkm.4,p.S136L	protein_coding, nonsense_mediated_decay	uc010dqo.3	nonsynonymous SNV	exon3	c.C407T	p.S136L	VVQSDSFEAAVPSNSHIVSEPGKNV	VVQSDSFEAAVPLNSHIVSEPGKNV	5.0	9.0	unscreened	-	4253_18:67563257-67563257 G>A_VVQSDSFEAAVPLNSHIVSEPGKNV
7:138603449-138603449 G>A	0.0	4253	MELANOMA	-	-	-	2	KIAA1549	uc011kqj.2,p.S308L|ENST00000242365,p.S258L|NM_020910,p.S308L|NM_001164665,p.S308L|uc011kql.2,p.S308L|ENST00000440172,p.S308L|ENST00000422774,p.S308L	protein_coding	uc011kql.2	nonsynonymous SNV	exon2	c.C923T	p.S308L	GITIPLPSLGEVSQPPEEVWATSAD	GITIPLPSLGEVLQPPEEVWATSAD	5.0	5.0	unscreened	-	4253_7:138603449-138603449 G>A_GITIPLPSLGEVLQPPEEVWATSAD
5:13717563-13717563 G>A	0.0	4253	MELANOMA	-	-	ID=COSM239605;OCCURENCE=1(prostate)	-	DNAH5	uc003jfc.2,p.A357V|ENST00000265104,p.A4189V|NM_001369,p.A4189V|uc003jfd.2,p.A4189V	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon73	c.C12566T	p.A4189V	SGSQWKPMLYAVAFLHSTVQERRKF	SGSQWKPMLYAVVFLHSTVQERRKF	3.0	5.0	unscreened	-	4253_5:13717563-13717563 G>A_SGSQWKPMLYAVVFLHSTVQERRKF
6:74123499-74123499 G>A	0.0	4253	MELANOMA	-	-	-	-	DDX43	NM_018665,p.R496Q|uc003pgw.3,p.R496Q|ENST00000370336,p.R496Q	retained_intron, protein_coding, processed_transcript	uc003pgw.3	nonsynonymous SNV	exon12	c.G1487A	p.R496Q	MSSTDKVIVFVSRKAVADHLSSDLI	MSSTDKVIVFVSQKAVADHLSSDLI	3.0	10.0	unscreened	-	4253_6:74123499-74123499 G>A_MSSTDKVIVFVSQKAVADHLSSDLI
1:197157484-197157484 T>A	1.0	4253	MELANOMA	-	-	-	-	ZBTB41	NM_194314,p.Y495F|ENST00000367405,p.Y495F|uc001gtx.1,p.Y495F	protein_coding, processed_transcript	uc001gtx.1	nonsynonymous SNV	exon4	c.A1484T	p.Y495F	ILHSQDKPFKCTYCEEHFKSRFARL	ILHSQDKPFKCTFCEEHFKSRFARL	4.0	1.0	unscreened	-	4253_1:197157484-197157484 T>A_ILHSQDKPFKCTFCEEHFKSRFARL
3:148925161-148925161 T>C	0.0	4253	MELANOMA	-	-	-	-	CP	ENST00000494544,p.N125S|uc003ewz.3,p.N342S|uc010hvf.1,p.N68S|ENST00000264613,p.N342S|uc003ewy.4,p.N342S|ENST00000481169,p.N342S|uc003ewx.4,p.N123S|NM_000096,p.N342S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hvf.1	nonsynonymous SNV	exon1	c.A203G	p.N68S	NPGEWMLSCQNLNHLKAGLQAFFQV	NPGEWMLSCQNLSHLKAGLQAFFQV	6.0	3.0	unscreened	-	4253_3:148925161-148925161 T>C_NPGEWMLSCQNLSHLKAGLQAFFQV
11:4790538-4790538 C>T	0.0	4253	MELANOMA	-	-	-	-	OR51F1	ENST00000380383,p.D211N|ENST00000343430,p.D204N|uc010qyl.2,p.D204N|NM_001004752,p.D204N	protein_coding	uc010qyl.2	nonsynonymous SNV	exon1	c.G610A	p.D204N	SDIRANSICGLIDLILTTGIDTPCI	SDIRANSICGLINLILTTGIDTPCI	1.0	9.0	unscreened	-	4253_11:4790538-4790538 C>T_SDIRANSICGLINLILTTGIDTPCI
7:130020396-130020396 G>A	0.0	4253	MELANOMA	-	-	-	-	CPA1	ENST00000604896,p.G21E	retained_intron, protein_coding	ENST00000604896	nonsynonymous SNV	exon1	c.G62A	p.G21E	SMRGLLVLSVLLGAVFGKEDFVGHQ	SMRGLLVLSVLLEAVFGKEDFVGHQ	3.0	7.0	unscreened	-	4253_7:130020396-130020396 G>A_SMRGLLVLSVLLEAVFGKEDFVGHQ
16:1488644-1488644 A>T	0.0	4253	MELANOMA	-	-	-	-	CCDC154	NM_001143980,p.V334D|ENST00000409671,p.V189D|uc010uve.2,p.V334D|ENST00000389176,p.V343D	retained_intron, protein_coding, nonsense_mediated_decay	uc010uve.2	nonsynonymous SNV	exon9	c.T1001A	p.V334D	KFVQQNQASLNRVLLAEEKAWDAKG	KFVQQNQASLNRDLLAEEKAWDAKG	8.0	1.0	unscreened	-	4253_16:1488644-1488644 A>T_KFVQQNQASLNRDLLAEEKAWDAKG
1:214826312-214826312 G>A	1.0	4253	MELANOMA	-	-	-	-	CENPF	ENST00000366955,p.E2768K|uc001hkm.3,p.E2768K|NM_016343,p.E2768K	protein_coding, processed_transcript	uc001hkm.3	nonsynonymous SNV	exon16	c.G8302A	p.E2768K	LNNSLKATTQILEELKKTKMDNLKY	LNNSLKATTQILKELKKTKMDNLKY	8.0	8.0	unscreened	-	4253_1:214826312-214826312 G>A_LNNSLKATTQILKELKKTKMDNLKY
19:43680223-43680223 C>T	0.0	4253	MELANOMA	-	-	-	-	PSG5	ENST00000342951,p.E170K|ENST00000366175,p.E170K|uc002ovu.3,p.E170K|NM_002781,p.E170K|ENST00000599812,p.E263K|uc002ovx.3,p.E170K|ENST00000404580,p.E170K|ENST00000407356,p.E170K|NM_001130014,p.E170K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ovx.3	nonsynonymous SNV	exon3	c.G508A	p.E170K	PRENKDVLAFTCEPKSENYTYIWWL	PRENKDVLAFTCKPKSENYTYIWWL	3.0	9.0	unscreened	-	4253_19:43680223-43680223 C>T_PRENKDVLAFTCKPKSENYTYIWWL
9:71836013-71836013 C>T	0.0	4253	MELANOMA	-	-	-	-	TJP2	uc011lrs.2,p.R162W|uc011lrt.1,p.R162W|NM_004817,p.R185W|NM_001170630,p.R185W|NM_001170415,p.R189W|ENST00000539225,p.R216W|ENST00000535702,p.R189W|ENST00000265384,p.R185W|NM_001170416,p.R216W|uc011lru.2,p.R189W|uc004ahd.3,p.R185W|uc011lrv.2,p.R216W|uc004ahb.1,p.R162W|NM_201629,p.R185W|ENST00000453658,p.R162W|ENST00000377245,p.R185W|uc004ahf.3,p.R185W|ENST00000348208,p.R185W|NM_001170414,p.R162W|uc004ahe.3,p.R185W	protein_coding, processed_transcript	uc011lrv.2	nonsynonymous SNV	exon5	c.C646T	p.R216W	DSPERGRPHERARSRERDLSRDRSR	DSPERGRPHERAWSRERDLSRDRSR	6.0	10.0	unscreened	-	4253_9:71836013-71836013 C>T_DSPERGRPHERAWSRERDLSRDRSR
1:19181137-19181137 G>A	0.0	4253	MELANOMA	-	-	-	-	TAS1R2	NM_152232,p.S276L|uc001bba.1,p.S276L|ENST00000375371,p.S276L	protein_coding	uc001bba.1	nonsynonymous SNV	exon3	c.C827T	p.S276L	LQQSTARVVVVFSPDLTLYHFFNEV	LQQSTARVVVVFLPDLTLYHFFNEV	1.0	4.0	unscreened	-	4253_1:19181137-19181137 G>A_LQQSTARVVVVFLPDLTLYHFFNEV
19:56369832-56369832 G>A	0.0	4253	MELANOMA	-	-	-	-	NLRP4	ENST00000301295,p.G358E|ENST00000587891,p.G283E|uc010etf.3,p.G189E|uc002qmf.3,p.G283E|NM_134444,p.G358E|uc002qmd.4,p.G358E|ENST00000346986,p.G358E	protein_coding	uc010etf.3	nonsynonymous SNV	exon1	c.G566A	p.G189E	ILCTSLKQEMQKGKDLALTCQSTTS	ILCTSLKQEMQKEKDLALTCQSTTS	6.0	2.0	unscreened	-	4253_19:56369832-56369832 G>A_ILCTSLKQEMQKEKDLALTCQSTTS
9:104239125-104239125 G>A	0.0	4253	MELANOMA	-	-	-	-	TMEM246	NM_032342,p.P84S|ENST00000374847,p.P84S|uc004bbm.3,p.P84S|uc022blf.1,p.P84S|ENST00000374851,p.P84S|ENST00000374848,p.P84S	protein_coding, processed_transcript	uc022blf.1	nonsynonymous SNV	exon1	c.C250T	p.P84S	EGEAALHYFEELPSANGSVPIVWQA	EGEAALHYFEELSSANGSVPIVWQA	3.0	10.0	unscreened	-	4253_9:104239125-104239125 G>A_EGEAALHYFEELSSANGSVPIVWQA
5:76621365-76621365 T>C	0.0	4253	MELANOMA	-	-	-	-	PDE8B	ENST00000342343,p.V114A|NM_001029853,p.V114A|uc003kfb.3,p.V114A	protein_coding	uc003kfb.3	nonsynonymous SNV	exon2	c.T341C	p.V114A	EAETQTCYTSVKVLLIFAKEDSQSD	EAETQTCYTSVKALLIFAKEDSQSD	6.0	5.0	unscreened	-	4253_5:76621365-76621365 T>C_EAETQTCYTSVKALLIFAKEDSQSD
2:186670412-186670412 G>A	1.0	4253	MELANOMA	-	-	-	-	FSIP2	ENST00000343098,p.S5549N|NM_173651,p.S5549N|ENST00000424728,p.S5460N|uc002upl.3,p.S5549N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.G16646A	p.S5549N	DTSSTPDCKNMMSTLEINRGTMNRK	DTSSTPDCKNMMNTLEINRGTMNRK	5.0	2.0	unscreened	-	4253_2:186670412-186670412 G>A_DTSSTPDCKNMMNTLEINRGTMNRK
10:118401631-118401631 C>T	0.0	4253	MELANOMA	-	-	-	-	PNLIPRP2	ENST00000537242,p.S394F	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	ENST00000537242	nonsynonymous SNV	exon13	c.C1181T	p.S394F	NENSKQYEIFKGSLKPDASHTCAID	NENSKQYEIFKGFLKPDASHTCAID	4.0	9.0	unscreened	-	4253_10:118401631-118401631 C>T_NENSKQYEIFKGFLKPDASHTCAID
2:179484786-179484786 C>T	0.0	4253	MELANOMA	-	-	-	-	TTN	NM_133437,p.R6580K|NM_001267550,p.R15453K|NM_003319,p.R6388K|NM_001256850,p.R13812K|uc021vsz.2,p.R6580K|uc031rqd.1,p.R13812K|uc021vta.2,p.R6513K|ENST00000591111,p.R13812K|uc031rqc.1,p.R15453K|uc021vsy.2,p.R12885K|ENST00000589042,p.R15453K|ENST00000342992,p.R12885K|ENST00000342175,p.R6580K|ENST00000359218,p.R6513K|uc021vtb.2,p.R6388K|NM_133378,p.R12885K|NM_133432,p.R6513K|ENST00000460472,p.R6388K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon199	c.G41435A	p.R13812K	DGSIHRLIIKDCRLDDECEYACGVE	DGSIHRLIIKDCKLDDECEYACGVE	5.0	7.0	unscreened	-	4253_2:179484786-179484786 C>T_DGSIHRLIIKDCKLDDECEYACGVE
18:61471661-61471661 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1711482;OCCURENCE=1(skin),1(large_intestine)	-	SERPINB7	ENST00000398019,p.S312L|ENST00000336429,p.S312L|uc002ljm.4,p.S312L|uc010xet.3,p.S295L|ENST00000546027,p.S312L|uc002ljl.4,p.S312L|NM_003784,p.S312L|uc010dqg.4,p.S312L|NM_001261831,p.S295L|NM_001261830,p.S312L|ENST00000540675,p.S295L|NM_001040147,p.S312L	protein_coding	uc010xet.3	nonsynonymous SNV	exon7	c.C884T	p.S295L	FDESKADLSGIASGGRLYISRMMHK	FDESKADLSGIALGGRLYISRMMHK	1.0	2.0	unscreened	-	4253_18:61471661-61471661 C>T_FDESKADLSGIALGGRLYISRMMHK
11:55111320-55111320 C>T	0.0	4253	MELANOMA	-	-	-	-	OR4A16	NM_001005274,p.S215F|ENST00000314721,p.S215F|uc010rie.2,p.S215F	protein_coding	uc010rie.2	nonsynonymous SNV	exon1	c.C644T	p.S215F	IICMVIFTFLLISCGVILNFLKTYS	IICMVIFTFLLIFCGVILNFLKTYS	1.0	8.0	unscreened	-	4253_11:55111320-55111320 C>T_IICMVIFTFLLIFCGVILNFLKTYS
11:58125758-58125758 G>A	0.0	4253	MELANOMA	-	-	-	-	OR5B17	uc010rke.2,p.S262F|ENST00000357377,p.S262F|NM_001005489,p.S262F	protein_coding	uc010rke.2	nonsynonymous SNV	exon1	c.C785T	p.S262F	YITVIIMYIRPSSSHSMDTDKIASV	YITVIIMYIRPSFSHSMDTDKIASV	2.0	2.0	unscreened	-	4253_11:58125758-58125758 G>A_YITVIIMYIRPSFSHSMDTDKIASV
7:141478347-141478347 G>A	0.0	4253	MELANOMA	-	-	-	-	TAS2R4	NM_016944,p.G20E|ENST00000247881,p.G20E|uc003vwq.1,p.G20E	protein_coding	uc003vwq.1	nonsynonymous SNV	exon1	c.G59A	p.G20E	SAIIASVILNFVGIIMNLFITVVNC	SAIIASVILNFVEIIMNLFITVVNC	3.0	4.0	unscreened	-	4253_7:141478347-141478347 G>A_SAIIASVILNFVEIIMNLFITVVNC
7:48391886-48391886 G>A	0.0	4253	MELANOMA	-	-	ID=COSM228097,COSM228096;OCCURENCE=1(skin),3(large_intestine)	-	ABCA13	uc031sxg.1,p.R1178Q|uc031sxh.1,p.R1178Q|uc003toq.2,p.R3497Q|NM_152701,p.R3497Q|uc003tos.1,p.R323Q|uc010kys.2,p.R1178Q|ENST00000435803,p.R3497Q	retained_intron, protein_coding, nonsense_mediated_decay	uc031sxh.1	nonsynonymous SNV	exon14	c.G3533A	p.R1178Q	SYTIRTNVLYSVRTDVVKNPSWKFH	SYTIRTNVLYSVQTDVVKNPSWKFH	4.0	9.0	unscreened	-	4253_7:48391886-48391886 G>A_SYTIRTNVLYSVQTDVVKNPSWKFH
16:31539914-31539914 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1182308;OCCURENCE=1(large_intestine)	-	AHSP	uc002ecj.3,p.R71W|NM_016633,p.R71W|ENST00000302312,p.R71W	protein_coding, processed_transcript	uc002ecj.3	nonsynonymous SNV	exon3	c.C211T	p.R71W	EPQERDKALQELRQELNTLANPFLA	EPQERDKALQELWQELNTLANPFLA	3.0	6.0	unscreened	-	4253_16:31539914-31539914 C>T_EPQERDKALQELWQELNTLANPFLA
10:101373480-101373480 G>A	1.0	4253	MELANOMA	-	-	-	-	SLC25A28	NM_031212,p.P165S|uc001kpx.2,p.P165S|ENST00000370495,p.P165S	protein_coding, processed_transcript	uc001kpx.2	nonsynonymous SNV	exon2	c.C493T	p.P165S	EKLKKTLSDVIHPGGNSHIANGAAG	EKLKKTLSDVIHSGGNSHIANGAAG	10.0	10.0	unscreened	-	4253_10:101373480-101373480 G>A_EKLKKTLSDVIHSGGNSHIANGAAG
19:8206604-8206604 C>T	0.0	4253	MELANOMA	-	-	-	-	FBN3	ENST00000270509,p.E288K|NM_032447,p.E288K|ENST00000601739,p.E288K|uc002mjf.3,p.E288K|ENST00000600128,p.E288K	retained_intron, protein_coding	uc002mjf.3	nonsynonymous SNV	exon7	c.G862A	p.E288K	VGHRLSDSSAACEDYRAGACFSVLF	VGHRLSDSSAACKDYRAGACFSVLF	3.0	8.0	unscreened	-	4253_19:8206604-8206604 C>T_VGHRLSDSSAACKDYRAGACFSVLF
14:94754631-94754631 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1707805;OCCURENCE=1(skin)	-	SERPINA10	ENST00000261994,p.M328I|NM_001100607,p.M328I|ENST00000554173,p.M328I|ENST00000393096,p.M328I|uc001yct.3,p.M328I|NM_016186,p.M328I|ENST00000554723,p.M368I|uc001ycu.5,p.M328I	protein_coding	uc001ycu.5	nonsynonymous SNV	exon3	c.G984A	p.M328I	LTTDLVETWLRNMKTRNMEVFFPKF	LTTDLVETWLRNIKTRNMEVFFPKF	2.0	2.0	unscreened	-	4253_14:94754631-94754631 C>T_LTTDLVETWLRNIKTRNMEVFFPKF
7:55912397-55912397 C>T	0.0	4253	MELANOMA	-	-	-	-	SEPT14	ENST00000388975,p.G64R|uc003tqz.2,p.G64R|NM_207366,p.G64R	protein_coding, processed_transcript	uc003tqz.2	nonsynonymous SNV	exon4	c.G190A	p.G64R	TFNILCVGETGIGKSTLIDTLFNTN	TFNILCVGETGIRKSTLIDTLFNTN	1.0	1.0	unscreened	-	4253_7:55912397-55912397 C>T_TFNILCVGETGIRKSTLIDTLFNTN
1:12835119-12835119 C>T	0.0	4253	MELANOMA	-	-	-	-	PRAMEF12	NM_001080830,p.P37S|uc001aui.3,p.P37S|ENST00000357726,p.P37S	protein_coding	uc001aui.3	nonsynonymous SNV	exon1	c.C109T	p.P37S	IPTLEELPRELFPPLFMEAFTRRCC	IPTLEELPRELFSPLFMEAFTRRCC	1.0	4.0	unscreened	-	4253_1:12835119-12835119 C>T_IPTLEELPRELFSPLFMEAFTRRCC
5:160047869-160047869 C>T	1.0	4253	MELANOMA	-	-	-	-	ATP10B	ENST00000520108,p.S242N|uc003lym.1,p.S634N|NM_025153,p.S634N|ENST00000327245,p.S634N|uc003lyn.3,p.S192N	retained_intron, protein_coding, processed_transcript	uc003lyn.3	nonsynonymous SNV	exon4	c.G575A	p.S192N	QQLFQKLKLLSLSQSFSSTAPSDTD	QQLFQKLKLLSLNQSFSSTAPSDTD	6.0	9.0	unscreened	-	4253_5:160047869-160047869 C>T_QQLFQKLKLLSLNQSFSSTAPSDTD
20:44005865-44005865 G>A	1.0	4253	MELANOMA	-	-	-	-	TP53TG5	uc002xny.3,p.R81C|NM_014477,p.R81C|ENST00000372726,p.R81C|ENST00000537995,p.R65C	protein_coding, processed_transcript	uc002xny.3	nonsynonymous SNV	exon3	c.C241T	p.R81C	CWHSLLSVPKILRISSGENSACNKT	CWHSLLSVPKILCISSGENSACNKT	4.0	4.0	unscreened	-	4253_20:44005865-44005865 G>A_CWHSLLSVPKILCISSGENSACNKT
14:19377916-19377916 C>T	0.0	4253	MELANOMA	-	-	-	-	OR11H12	uc010tkp.2,p.S108F|ENST00000550708,p.S108F|NM_001013354,p.S108F	protein_coding	uc010tkp.2	nonsynonymous SNV	exon1	c.C323T	p.S108F	MLVNFLSEKKNISFAGCFLQFYFFF	MLVNFLSEKKNIFFAGCFLQFYFFF	1.0	2.0	unscreened	-	4253_14:19377916-19377916 C>T_MLVNFLSEKKNIFFAGCFLQFYFFF
1:157494264-157494264 C>T	0.0	4253	MELANOMA	-	-	-	-	FCRL5	ENST00000368190,p.A682T|ENST00000356953,p.A682T|ENST00000361835,p.A682T|uc001fqu.3,p.A682T|uc010phv.1,p.A682T|uc010phw.1,p.A597T|uc009wsm.3,p.A682T|ENST00000368191,p.A597T|NM_031281,p.A682T|NM_001195388,p.A682T	protein_coding, processed_transcript	uc010phw.1	nonsynonymous SNV	exon9	c.G1789A	p.A597T	AVVGDLLELHCEALRGSSPILYWFY	AVVGDLLELHCETLRGSSPILYWFY	3.0	5.0	unscreened	-	4253_1:157494264-157494264 C>T_AVVGDLLELHCETLRGSSPILYWFY
17:63221202-63221202 C>T	0.0	4253	MELANOMA	-	-	-	-	RGS9	ENST00000262406,p.S497F|uc002jfe.3,p.S497F|ENST00000443584,p.S494F|uc002jfg.3,p.S268F|ENST00000449996,p.S494F|NM_003835,p.S497F|uc010dem.3,p.S494F|NM_001081955,p.S494F|uc002jfd.3,p.S494F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dem.3	nonsynonymous SNV	exon18	c.C1481T	p.S494F	GTCMPPSPSSPFSSSCRSPRKPFAS	GTCMPPSPSSPFFSSCRSPRKPFAS	6.0	5.0	unscreened	-	4253_17:63221202-63221202 C>T_GTCMPPSPSSPFFSSCRSPRKPFAS
16:9858549-9858549 C>T	1.0	4253	MELANOMA	-	-	-	1	GRIN2A	NM_000833,p.G951E|uc010uyn.2,p.G794E|uc002czr.4,p.G951E|uc002czo.4,p.G951E|ENST00000330684,p.G951E|NM_001134407,p.G951E|uc010uym.2,p.G951E|ENST00000396573,p.G951E|ENST00000562109,p.G951E|ENST00000404927,p.G951E|NM_001134408,p.G951E|ENST00000396575,p.G951E|ENST00000535259,p.G794E	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon12	c.G2381A	p.G794E	GNLMYSDNRSFQGKESIFGDNMNEL	GNLMYSDNRSFQEKESIFGDNMNEL	6.0	6.0	unscreened	-	4253_16:9858549-9858549 C>T_GNLMYSDNRSFQEKESIFGDNMNEL
10:20290895-20290895 G>A	0.0	4253	MELANOMA	-	-	-	-	PLXDC2	NM_001282736,p.D102N|ENST00000377242,p.D102N|uc001iqh.1,p.D102N	protein_coding	uc001iqh.1	nonsynonymous SNV	exon2	c.G304A	p.D102N	RSFTDLLLDDGQDNNTQIERVNLSF	RSFTDLLLDDGQNNNTQIERVNLSF	7.0	10.0	unscreened	-	4253_10:20290895-20290895 G>A_RSFTDLLLDDGQNNNTQIERVNLSF
5:140263655-140263655 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1165261;OCCURENCE=1(large_intestine)	-	PCDHA13	uc003lie.1,p.S601L|NM_031865,p.S601L|ENST00000409494,p.S601L|NM_018904,p.S601L|uc003lif.2,p.S601L|uc003lid.3,p.S601L|ENST00000289272,p.S601L	protein_coding	uc003lif.2	nonsynonymous SNV	exon1	c.C1802T	p.S601L	HVVAKVRAVDADSGYNAWLSYELQL	HVVAKVRAVDADLGYNAWLSYELQL	3.0	6.0	unscreened	-	4253_5:140263655-140263655 C>T_HVVAKVRAVDADLGYNAWLSYELQL
16:57847634-57847634 ->TGCAGGTG	0.0	4253	MELANOMA	-	-	-	-	LOC388282	NM_001278081,p.Q46fs|uc031qwi.1,p.Q46fs	protein_coding, processed_transcript	uc031qwi.1	frameshift insertion	exon2	c.137_138insTGCAGGTG	p.Q46fs	RVSSTSLHPGTTQLGILTASAACAF	RVSSTSLHPGTTHAGGLASSQPLQHVPSEGREPGTRETQGISRVTA	3.0	10.0	unscreened	-	4253_16:57847634-57847634 ->TGCAGGTG_RVSSTSLHPGTTHAGGLASSQPLQHVPSEGREPGTRETQGISRVTA
17:7813846-7813846 G>A	1.0	4253	MELANOMA	-	-	-	-	CHD3	ENST00000573936,p.D213N|ENST00000439235,p.D241N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000573936	nonsynonymous SNV	exon5	c.G637A	p.D213N	AVPNTPHRSPPSDVRAQHPQPAGQQ	AVPNTPHRSPPSNVRAQHPQPAGQQ	10.0	7.0	unscreened	-	4253_17:7813846-7813846 G>A_AVPNTPHRSPPSNVRAQHPQPAGQQ
14:21360170-21360170 C>T	0.0	4253	MELANOMA	-	-	-	-	RNASE3	uc001vyj.3,p.H109Y|NM_002935,p.H109Y|ENST00000304639,p.H109Y|uc021roq.1,p.H109Y	protein_coding	uc021roq.1	nonsynonymous SNV	exon1	c.C325T	p.H109Y	NCHRSRFRVPLLHCDLINPGAQNIS	NCHRSRFRVPLLYCDLINPGAQNIS	4.0	3.0	unscreened	-	4253_14:21360170-21360170 C>T_NCHRSRFRVPLLYCDLINPGAQNIS
6:32012899-32012899 C>T	0.0	4253	MELANOMA	-	-	-	-	TNXB	NM_032470,p.G33D|uc003nzg.1,p.G33D|NM_019105,p.G3602D|uc003nzh.1,p.G71D|ENST00000375247,p.G3602D|ENST00000451343,p.G33D|ENST00000375244,p.G3604D|uc003nzl.2,p.G3602D	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon32	c.G10805A	p.G3602D	DTNGQPQALLVDGDQSKILISGLEP	DTNGQPQALLVDDDQSKILISGLEP	7.0	1.0	unscreened	-	4253_6:32012899-32012899 C>T_DTNGQPQALLVDDDQSKILISGLEP
5:140256124-140256124 C>T	0.0	4253	MELANOMA	-	-	-	-	PCDHA12	NM_031864,p.S356L|uc011daf.2,p.S356L|ENST00000398631,p.S356L|uc003lic.2,p.S356L|NM_018903,p.S356L	protein_coding	uc011daf.2	nonsynonymous SNV	exon1	c.C1067T	p.S356L	NDNVPEVMVTSLSLPVQEDAQVGTV	NDNVPEVMVTSLLLPVQEDAQVGTV	4.0	6.0	unscreened	-	4253_5:140256124-140256124 C>T_NDNVPEVMVTSLLLPVQEDAQVGTV
19:44778596-44778596 G>A	1.0	4253	MELANOMA	-	-	-	-	ZNF233	NM_001207005,p.E595K|uc021uvi.1,p.E595K|ENST00000391958,p.E595K|NM_181756,p.E595K|ENST00000334152,p.E577K|uc002oyz.2,p.E595K|uc002oyy.2,p.E410K	protein_coding	uc021uvi.1	nonsynonymous SNV	exon5	c.G1783A	p.E595K	QRVHTGEKPYKCEECRKGFIWNSYL	QRVHTGEKPYKCKECRKGFIWNSYL	5.0	7.0	unscreened	-	4253_19:44778596-44778596 G>A_QRVHTGEKPYKCKECRKGFIWNSYL
11:5718497-5718497 T>A	1.0	4253	MELANOMA	-	-	-	-	TRIM22	ENST00000425490,p.L148Q|NM_001199573,p.L148Q|uc009yes.3,p.L148Q|NM_006074,p.L148Q|ENST00000379965,p.L148Q|ENST00000414641,p.L148Q|uc001mbr.3,p.L148Q	retained_intron, protein_coding, nonsense_mediated_decay	uc009yes.3	nonsynonymous SNV	exon3	c.T443A	p.L148Q	VVKECQEKLQVALQRLIKEDQEAEK	VVKECQEKLQVAQQRLIKEDQEAEK	9.0	3.0	unscreened	-	4253_11:5718497-5718497 T>A_VVKECQEKLQVAQQRLIKEDQEAEK
11:62570920-62570920 C>T	1.0	4253	MELANOMA	-	-	-	-	NXF1	ENST00000439713,p.G114R|ENST00000530875,p.G157R|ENST00000533671,p.G54R|ENST00000531709,p.G114R|uc001nvf.1,p.G114R|NM_001081491,p.G114R|uc001nvg.1,p.G114R|ENST00000532297,p.G114R|ENST00000294172,p.G114R|NM_006362,p.G114R|uc009yog.1,p.G157R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yog.1	nonsynonymous SNV	exon4	c.G469A	p.G157R	PPERGGAGTSQDGTSKNWFKITIPY	PPERGGAGTSQDRTSKNWFKITIPY	10.0	3.0	unscreened	-	4253_11:62570920-62570920 C>T_PPERGGAGTSQDRTSKNWFKITIPY
12:76424460-76424460 ->GGATGC	1.0	4253	MELANOMA	-	-	-	-	PHLDA1	uc001sxu.3,p.P354delinsPHP|ENST00000266671,p.P354delinsPHP|NM_007350,p.P354delinsPHP|ENST00000602540,p.P213delinsPHP|uc021rax.1,p.P354delinsPHP	protein_coding	uc021rax.1	nonframeshift insertion	exon1	c.1061_1062insGCATCC	p.P354delinsPHP	KPQPQQLHPYPHPHPHPHSHPHSHP	KPQPQQLHPYPHPHPHPHPHSHPHS	8.0	8.0	unscreened	-	4253_12:76424460-76424460 ->GGATGC_KPQPQQLHPYPHPHPHPHPHSHPHS
11:24750827-24750827 C>T	0.0	4253	MELANOMA	-	-	-	-	LUZP2	uc001mqs.3,p.L59F|ENST00000529015,p.L59F|ENST00000336930,p.L59F|NM_001009909,p.L59F|uc009yig.3,p.L59F|NM_001252010,p.L59F	protein_coding, processed_transcript	uc009yig.3	nonsynonymous SNV	exon2	c.C175T	p.L59F	KTSRELDGIKVNLQSLKNDEQSAKT	KTSRELDGIKVNFQSLKNDEQSAKT	1.0	1.0	unscreened	-	4253_11:24750827-24750827 C>T_KTSRELDGIKVNFQSLKNDEQSAKT
19:9091147-9091147 G>A	0.0	4253	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.P223L|NM_024690,p.P223L|uc002mkp.3,p.P223L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C668T	p.P223L	TPAETTVTDSHTPGRTNPSFGTLYS	TPAETTVTDSHTLGRTNPSFGTLYS	2.0	10.0	unscreened	-	4253_19:9091147-9091147 G>A_TPAETTVTDSHTLGRTNPSFGTLYS
19:13988561-13988561 G>A	0.0	4253	MELANOMA	-	-	-	-	NANOS3	ENST00000339133,p.G167R|NM_001098622,p.G167R|uc002mxj.4,p.G167R|ENST00000397555,p.G148R	protein_coding	uc002mxj.4	nonsynonymous SNV	exon1	c.G499A	p.G167R	DKAKTQDTGHRRGGGGGAGFRGAGK	DKAKTQDTGHRRRGGGGAGFRGAGK	7.0	3.0	unscreened	-	4253_19:13988561-13988561 G>A_DKAKTQDTGHRRRGGGGAGFRGAGK
19:56466635-56466635 C>T	0.0	4253	MELANOMA	-	-	-	-	NLRP8	uc002qmh.3,p.S404F|ENST00000590542,p.S404F|ENST00000291971,p.S404F|uc010etg.3,p.S404F|NM_176811,p.S404F	protein_coding	uc010etg.3	nonsynonymous SNV	exon3	c.C1211T	p.S404F	MCRVPVVCWMVCSGLKQQMERGNNL	MCRVPVVCWMVCFGLKQQMERGNNL	1.0	3.0	unscreened	-	4253_19:56466635-56466635 C>T_MCRVPVVCWMVCFGLKQQMERGNNL
5:31305407-31305407 G>A	0.0	4253	MELANOMA	-	-	-	-	CDH6	ENST00000265071,p.D376N|uc003jhd.2,p.D376N|uc003jhe.2,p.D376N|NM_004932,p.D376N|ENST00000514738,p.D321N	retained_intron, protein_coding	uc003jhe.2	nonsynonymous SNV	exon7	c.G1126A	p.D376N	FKDSATVRIVVEDVDEPPVFSKLAY	FKDSATVRIVVENVDEPPVFSKLAY	6.0	4.0	unscreened	-	4253_5:31305407-31305407 G>A_FKDSATVRIVVENVDEPPVFSKLAY
2:21237974-21237974 A>C	0.0	4253	MELANOMA	-	-	-	-	APOB	ENST00000233242,p.F1223V|NM_000384,p.F1223V|uc002red.3,p.F1223V	protein_coding	uc002red.3	nonsynonymous SNV	exon23	c.T3667G	p.F1223V	LLDHRVPQTDMTFRHVGSKLIVAMS	LLDHRVPQTDMTVRHVGSKLIVAMS	1.0	2.0	unscreened	-	4253_2:21237974-21237974 A>C_LLDHRVPQTDMTVRHVGSKLIVAMS
3:151155216-151155216 C>T	0.0	4253	MELANOMA	-	-	-	-	IGSF10	NM_001178146,p.R357Q|uc011bod.2,p.R2378Q|NM_001178145,p.R405Q|uc011bob.2,p.R405Q|NM_178822,p.R2378Q|uc011boc.2,p.R357Q|ENST00000282466,p.R2378Q	protein_coding, processed_transcript	uc011bod.2	nonsynonymous SNV	exon6	c.G7133A	p.R2378Q	PPEIIWILPNGTRFSNGPQSYQYLI	PPEIIWILPNGTQFSNGPQSYQYLI	4.0	9.0	unscreened	-	4253_3:151155216-151155216 C>T_PPEIIWILPNGTQFSNGPQSYQYLI
3:131442332-131442332 C>G	0.0	4253	MELANOMA	-	-	-	-	CPNE4	ENST00000512055,p.K106N|uc003eol.3,p.K124N|ENST00000502818,p.K124N|uc003eok.3,p.K106N|NM_130808,p.K106N|NM_001289112,p.K124N|ENST00000505881,p.K106N|uc003eom.3,p.K106N|ENST00000511604,p.K106N|ENST00000429747,p.K106N|NM_153429,p.K124N|uc011blq.2,p.K124N|ENST00000512332,p.K124N	retained_intron, protein_coding, processed_transcript	uc011blq.2	nonsynonymous SNV	exon3	c.G372C	p.K124N	EVHDISSNHNGLKEADFLGGMECTL	EVHDISSNHNGLNEADFLGGMECTL	1.0	4.0	unscreened	-	4253_3:131442332-131442332 C>G_EVHDISSNHNGLNEADFLGGMECTL
14:80271500-80271500 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1678163,COSM1678164;OCCURENCE=1(skin)	-	NRXN3	ENST00000281127,p.D319N|NM_138970,p.D319N|ENST00000555387,p.D349N|ENST00000554738,p.D1343N|uc001xur.5,p.D319N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xur.5	nonsynonymous SNV	exon5	c.G955A	p.D319N	DDLVSSAECSSDDEDFVECEPSTGR	DDLVSSAECSSDNEDFVECEPSTGR	7.0	10.0	unscreened	-	4253_14:80271500-80271500 G>A_DDLVSSAECSSDNEDFVECEPSTGR
21:43864719-43864719 G>A	0.0	4253	MELANOMA	-	-	-	-	UBASH3A	uc002zbe.3,p.R605Q|ENST00000291535,p.R567Q|NM_018961,p.R605Q|uc002zbf.3,p.R567Q|ENST00000319294,p.R605Q|NM_001001895,p.R567Q	retained_intron, protein_coding	uc002zbf.3	nonsynonymous SNV	exon13	c.G1700A	p.R567Q	DSCTRPLLGLPPRECGDFAQLVRKI	DSCTRPLLGLPPQECGDFAQLVRKI	5.0	7.0	unscreened	-	4253_21:43864719-43864719 G>A_DSCTRPLLGLPPQECGDFAQLVRKI
14:23790764-23790764 C>T	0.0	4253	MELANOMA	-	-	-	-	PABPN1	uc001wjk.3,p.P29L|ENST00000216727,p.P29L|ENST00000397276,p.P29L|NM_004643,p.P29L|uc001wjj.3,p.P29L	retained_intron, protein_coding	uc001wjk.3	nonsynonymous SNV	exon1	c.C86T	p.P29L	RGSGPGRRRHLVPGAGGEAGEGAPG	RGSGPGRRRHLVLGAGGEAGEGAPG	10.0	3.0	unscreened	-	4253_14:23790764-23790764 C>T_RGSGPGRRRHLVLGAGGEAGEGAPG
5:110820033-110820033 G>A	1.0	4253	MELANOMA	-	-	-	-	CAMK4	uc010jbv.3,p.E234K|uc003kpg.3,p.E122K|NM_001744,p.E431K|ENST00000512453,p.E431K|ENST00000282356,p.E431K|uc003kpf.3,p.E431K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jbv.3	nonsynonymous SNV	exon9	c.G700A	p.E234K	KAVEDGIKVADLELEEGLAEEKLKT	KAVEDGIKVADLKLEEGLAEEKLKT	5.0	5.0	unscreened	-	4253_5:110820033-110820033 G>A_KAVEDGIKVADLKLEEGLAEEKLKT
12:56712204-56712204 C>T	1.0	4253	MELANOMA	-	-	-	-	PAN2	uc001skw.3,p.G279R|ENST00000440411,p.G1127R|uc001skx.3,p.G1131R|ENST00000548043,p.G1131R|ENST00000425394,p.G1131R|NM_001127460,p.G1131R|ENST00000257931,p.G1130R|NM_001166279,p.G1130R|NM_014871,p.G1127R|uc001sky.3,p.G1127R|uc001skz.3,p.G1130R	retained_intron, protein_coding, processed_transcript	uc001skz.3	nonsynonymous SNV	exon25	c.G3388A	p.G1130R	FLAWYFLDLKIQGETHDSIEDARTA	FLAWYFLDLKIQRETHDSIEDARTA	9.0	2.0	unscreened	-	4253_12:56712204-56712204 C>T_FLAWYFLDLKIQRETHDSIEDARTA
7:100642746-100642746 C>T	0.0	4253	MELANOMA	-	-	-	-	MUC12	ENST00000379442,p.P3111S|ENST00000536621,p.P2968S|NM_001164462,p.P2968S|uc003uxo.3,p.P2968S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C8902T	p.P2968S	DTITSGLVEASTPTHSSTGSLHTTL	DTITSGLVEASTSTHSSTGSLHTTL	5.0	1.0	unscreened	-	4253_7:100642746-100642746 C>T_DTITSGLVEASTSTHSSTGSLHTTL
14:80271500-80271500 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1678163,COSM1678164;OCCURENCE=1(skin)	-	NRXN3	ENST00000428277,p.D349N|ENST00000335750,p.D951N|NM_001105250,p.D349N|uc001xun.4,p.D951N|uc010asw.4,p.D349N|NM_004796,p.D951N|ENST00000554719,p.D951N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010asw.4	nonsynonymous SNV	exon6	c.G1045A	p.D349N	DDLVSSAECSSDDEDFVECEPSTAN	DDLVSSAECSSDNEDFVECEPSTAN	7.0	10.0	unscreened	-	4253_14:80271500-80271500 G>A_DDLVSSAECSSDNEDFVECEPSTAN
2:166183405-166183405 C>T	0.0	4253	MELANOMA	-	-	-	-	SCN2A	NM_021007,p.S687F|ENST00000375437,p.S687F|ENST00000375427,p.S687F|ENST00000283256,p.S687F|NM_001040143,p.S687F|uc002ude.3,p.S687F|NM_001040142,p.S687F|uc002udc.3,p.S687F|ENST00000357398,p.S687F|uc002udd.3,p.S687F	retained_intron, protein_coding	uc002ude.3	nonsynonymous SNV	exon12	c.C2060T	p.S687F	TTETEIRKRRSSSYHVSMDLLEDPT	TTETEIRKRRSSFYHVSMDLLEDPT	3.0	8.0	unscreened	-	4253_2:166183405-166183405 C>T_TTETEIRKRRSSFYHVSMDLLEDPT
14:80271500-80271500 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1678163,COSM1678164;OCCURENCE=1(skin)	-	NRXN3	uc001xuq.3,p.D319N|NM_001272020,p.D319N|ENST00000557594,p.D319N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xuq.3	nonsynonymous SNV	exon5	c.G955A	p.D319N	DDLVSSAECSSDDEDFVECEPSTGG	DDLVSSAECSSDNEDFVECEPSTGG	7.0	10.0	unscreened	-	4253_14:80271500-80271500 G>A_DDLVSSAECSSDNEDFVECEPSTGG
4:94032071-94032071 G>A	1.0	4253	MELANOMA	-	-	-	-	GRID2	ENST00000502699,p.M149I	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000502699	nonsynonymous SNV	exon3	c.G447A	p.M149I	RYRDTLRRAILVMNPATAKSFITEM	RYRDTLRRAILVINPATAKSFITEM	5.0	6.0	unscreened	-	4253_4:94032071-94032071 G>A_RYRDTLRRAILVINPATAKSFITEM
6:117662790-117662790 C>T	0.0	4253	MELANOMA	-	-	-	1	ROS1	uc003pxp.1,p.E1559K|ENST00000368508,p.E1559K|ENST00000368507,p.E1553K|NM_002944,p.E1559K	protein_coding	uc003pxp.1	nonsynonymous SNV	exon29	c.G4675A	p.E1559K	KEIWGKTKNGVPEAVQLINTTVRSD	KEIWGKTKNGVPKAVQLINTTVRSD	2.0	9.0	unscreened	-	4253_6:117662790-117662790 C>T_KEIWGKTKNGVPKAVQLINTTVRSD
1:17410325-17410325 C>T	0.0	4253	MELANOMA	-	-	-	-	PADI2	ENST00000375486,p.D316N|ENST00000375481,p.D316N|uc001baf.3,p.D316N|NM_007365,p.D316N|uc001bag.1,p.D316N	protein_coding, processed_transcript	uc001bag.1	nonsynonymous SNV	exon9	c.G946A	p.D316N	LPPVSVFVCCMKDNYLFLKEVKNLV	LPPVSVFVCCMKNNYLFLKEVKNLV	4.0	4.0	unscreened	-	4253_1:17410325-17410325 C>T_LPPVSVFVCCMKNNYLFLKEVKNLV
2:231108472-231108472 G>A	0.0	4253	MELANOMA	-	-	-	-	SP140	uc010fxl.3,p.D173N|uc002vqn.3,p.D173N|ENST00000486687,p.D173N|ENST00000350136,p.D153N|ENST00000392045,p.D173N|NM_007237,p.D173N|ENST00000420434,p.D173N|ENST00000417495,p.D173N|uc002vqm.3,p.D173N|uc002vqk.2,p.D173N|NM_001278453,p.D173N|ENST00000343805,p.D173N|uc002vql.3,p.D173N|NM_001278451,p.D173N|NM_001278452,p.D173N	retained_intron, protein_coding, processed_transcript	uc010fxl.3	nonsynonymous SNV	exon5	c.G517A	p.D173N	GKQENSNACHEMDDIAVPQEALSSS	GKQENSNACHEMNDIAVPQEALSSS	7.0	7.0	unscreened	-	4253_2:231108472-231108472 G>A_GKQENSNACHEMNDIAVPQEALSSS
7:143453382-143453382 G>A	0.0	4253	MELANOMA	-	-	-	-	CTAGE6	NM_178561,p.S457F|ENST00000470691,p.S457F|uc003wdk.4,p.S457F	-	uc003wdk.4	nonsynonymous SNV	exon1	c.C1370T	p.S457F	ERTVHFYQKQVISYEKRGHDNWLAA	ERTVHFYQKQVIFYEKRGHDNWLAA	1.0	1.0	unscreened	-	4253_7:143453382-143453382 G>A_ERTVHFYQKQVIFYEKRGHDNWLAA
14:21793028-21793028 C>T	0.0	4253	MELANOMA	-	-	-	-	RPGRIP1	NM_020366,p.P672S|uc001wag.3,p.P672S|ENST00000557771,p.P634S|ENST00000206660,p.P672S|uc001waj.1,p.P137S|uc001wah.3,p.P314S|uc001wak.3,p.P147S|ENST00000400017,p.P672S|ENST00000555587,p.P147S|uc010aim.3,p.P55S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010aim.3	nonsynonymous SNV	exon3	c.C163T	p.P55S	DFETHCTPLSVGPQPLYDFTSQYVM	DFETHCTPLSVGSQPLYDFTSQYVM	4.0	8.0	unscreened	-	4253_14:21793028-21793028 C>T_DFETHCTPLSVGSQPLYDFTSQYVM
19:56531747-56531747 C>T	0.0	4253	MELANOMA	-	-	-	-	NLRP5	uc002qmi.3,p.S191L	protein_coding, nonsense_mediated_decay	uc002qmi.3	nonsynonymous SNV	exon5	c.C572T	p.S191L	SATAAETKEQEISQAMEQEGATAAE	SATAAETKEQEILQAMEQEGATAAE	3.0	8.0	unscreened	-	4253_19:56531747-56531747 C>T_SATAAETKEQEILQAMEQEGATAAE
X:142967233-142967233 G>A	0.0	4253	MELANOMA	-	-	-	-	UBE2NL	NM_001012989,p.E11K|ENST00000370494,p.E11K|uc004fca.3,p.E11K	protein_coding	uc004fca.3	nonsynonymous SNV	exon1	c.G31A	p.E11K	MAELPHRIIKETQRLLAEPVPGI	MAELPHRIIKKTQRLLAEPVPGI	4.0	10.0	unscreened	-	4253_X:142967233-142967233 G>A_MAELPHRIIKKTQRLLAEPVPGI
1:176564448-176564448 C>T	0.0	4253	MELANOMA	-	-	-	-	PAPPA2	uc001gky.1,p.H570Y|uc001gkz.3,p.H570Y|NM_021936,p.H570Y|ENST00000367662,p.H570Y|NM_020318,p.H570Y|ENST00000367661,p.H570Y	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon3	c.C1708T	p.H570Y	FSRYNISWQLSVHQVHNSTLRHRVV	FSRYNISWQLSVYQVHNSTLRHRVV	4.0	3.0	unscreened	-	4253_1:176564448-176564448 C>T_FSRYNISWQLSVYQVHNSTLRHRVV
7:26678807-26678807 C>T	0.0	4253	MELANOMA	-	-	-	-	C7orf71	ENST00000409974,p.P15L|uc003syb.3,p.P15L|NM_001145531,p.P15L	protein_coding	uc003syb.3	nonsynonymous SNV	exon2	c.C44T	p.P15L	SCGWALTQSDWCPFKKRKRHQRCAH	SCGWALTQSDWCLFKKRKRHQRCAH	1.0	2.0	unscreened	-	4253_7:26678807-26678807 C>T_SCGWALTQSDWCLFKKRKRHQRCAH
20:50769797-50769797 C>T	1.0	4253	MELANOMA	-	-	-	-	ZFP64	ENST00000216923,p.G312R|NM_199426,p.G310R|ENST00000371515,p.G310R|uc002xwl.3,p.G312R|NM_022088,p.G258R|uc002xwm.3,p.G310R|ENST00000346617,p.G258R|NM_018197,p.G312R|uc002xwn.3,p.G258R	protein_coding, processed_transcript	uc002xwn.3	nonsynonymous SNV	exon5	c.G772A	p.G258R	GNLKSHIRIKHSGNNFKCPHCDFLG	GNLKSHIRIKHSRNNFKCPHCDFLG	8.0	8.0	unscreened	-	4253_20:50769797-50769797 C>T_GNLKSHIRIKHSRNNFKCPHCDFLG
17:80050455-80050455 G>A	1.0	4253	MELANOMA	-	-	-	-	FASN	NM_004104,p.P302L|uc002kdu.3,p.P302L|ENST00000306749,p.P302L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kdu.3	nonsynonymous SNV	exon8	c.C905T	p.P302L	IEAHGTGTKVGDPQELNGITRALCA	IEAHGTGTKVGDLQELNGITRALCA	9.0	6.0	unscreened	-	4253_17:80050455-80050455 G>A_IEAHGTGTKVGDLQELNGITRALCA
8:113293451-113293451 G>C	0.0	4253	MELANOMA	-	-	-	2	CSMD3	uc011lhx.2,p.Q2985E|ENST00000339701,p.Q2424E|NM_198124,p.Q3114E|uc003ynu.3,p.Q3154E|NM_052900,p.Q2985E|ENST00000352409,p.Q3084E|ENST00000297405,p.Q3154E|ENST00000455883,p.Q2985E|uc003ynt.3,p.Q3114E|uc003yns.3,p.Q2356E|ENST00000343508,p.Q3114E|NM_198123,p.Q3154E	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon57	c.C8953G	p.Q2985E	MEGYILSGPSVRQCTANGTWSGTLP	MEGYILSGPSVRECTANGTWSGTLP	4.0	1.0	unscreened	-	4253_8:113293451-113293451 G>C_MEGYILSGPSVRECTANGTWSGTLP
18:50866115-50866115 C>T	0.0	4253	MELANOMA	-	-	-	2	DCC	ENST00000581580,p.H388Y|ENST00000442544,p.H733Y|NM_005215,p.H733Y|uc010dpf.2,p.H388Y|uc010xdr.1,p.H581Y|ENST00000412726,p.H581Y|uc002lfe.2,p.H733Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdr.1	nonsynonymous SNV	exon15	c.C1741T	p.H581Y	DESQVPDQPSSLHVRPQTNCIIMSW	DESQVPDQPSSLYVRPQTNCIIMSW	1.0	2.0	unscreened	-	4253_18:50866115-50866115 C>T_DESQVPDQPSSLYVRPQTNCIIMSW
8:30002021-30002021 C>T	0.0	4253	MELANOMA	-	-	-	-	MBOAT4	NM_001100916,p.D33N|uc010lvg.3,p.D33N|ENST00000320542,p.D33N	protein_coding	uc010lvg.3	nonsynonymous SNV	exon1	c.G97A	p.D33N	PFALLFNYLCIMDSFSTRARYLFLL	PFALLFNYLCIMNSFSTRARYLFLL	1.0	4.0	unscreened	-	4253_8:30002021-30002021 C>T_PFALLFNYLCIMNSFSTRARYLFLL
16:31087958-31087958 C>T	0.0	4253	MELANOMA	-	-	-	-	ZNF646	NM_014699,p.H105Y|ENST00000428260,p.H105Y|uc002eap.3,p.H105Y|ENST00000394979,p.H105Y|ENST00000300850,p.H105Y|uc021tgu.1,p.H105Y	protein_coding	uc021tgu.1	nonsynonymous SNV	exon1	c.C313T	p.H105Y	HMRTHAPEGRRRHRPPRPKEATPHL	HMRTHAPEGRRRYRPPRPKEATPHL	7.0	1.0	unscreened	-	4253_16:31087958-31087958 C>T_HMRTHAPEGRRRYRPPRPKEATPHL
3:151531964-151531964 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1040052;OCCURENCE=1(endometrium)	-	AADAC	ENST00000232892,p.S5L|NM_001086,p.S5L|ENST00000488869,p.S5L|uc003eze.3,p.S5L	protein_coding	uc003eze.3	nonsynonymous SNV	exon1	c.C14T	p.S5L	MGRKSLYLLIVGILIAY	MGRKLLYLLIVGILIAY	1.0	3.0	unscreened	-	4253_3:151531964-151531964 C>T_MGRKLLYLLIVGILIAY
X:69549315-69549315 A>G	0.0	4253	MELANOMA	-	-	-	-	KIF4A	uc010nkw.3,p.D280G|ENST00000374388,p.D280G|ENST00000374403,p.D280G|uc004dyf.2,p.D280G|NM_012310,p.D280G|uc004dyg.3,p.D280G	protein_coding, processed_transcript	uc010nkw.3	nonsynonymous SNV	exon7	c.A839G	p.D280G	LCLGNVISALGDDKKGGFVPYRDSK	LCLGNVISALGDGKKGGFVPYRDSK	7.0	7.0	unscreened	-	4253_X:69549315-69549315 A>G_LCLGNVISALGDGKKGGFVPYRDSK
9:72723364-72723364 G>A	0.0	4253	MELANOMA	-	-	-	-	MAMDC2	uc004ahm.2,p.S129N|NM_153267,p.S129N|ENST00000377182,p.S129N	protein_coding, processed_transcript	uc004ahm.2	nonsynonymous SNV	exon3	c.G386A	p.S129N	SAKEPSDSWLIASLDLQNSSKKFKI	SAKEPSDSWLIANLDLQNSSKKFKI	4.0	10.0	unscreened	-	4253_9:72723364-72723364 G>A_SAKEPSDSWLIANLDLQNSSKKFKI
6:29054544-29054544 G>A	0.0	4253	MELANOMA	-	-	-	-	OR2B3	ENST00000377173,p.S161F|uc003nlx.3,p.S161F|NM_001005226,p.S161F	protein_coding	uc003nlx.3	nonsynonymous SNV	exon1	c.C482T	p.S161F	WLIGFGNSVLQSSLTLNMPRCGHQE	WLIGFGNSVLQSFLTLNMPRCGHQE	1.0	3.0	unscreened	-	4253_6:29054544-29054544 G>A_WLIGFGNSVLQSFLTLNMPRCGHQE
11:67433114-67433114 C>T	0.0	4253	MELANOMA	-	-	-	-	ALDH3B2	uc009ysa.1,p.M116I|uc001oms.3,p.M116I|NM_001031615,p.M116I|ENST00000525827,p.M116I|ENST00000349015,p.M116I|NM_000695,p.M116I|uc001omr.3,p.M116I|ENST00000530069,p.M116I	retained_intron, protein_coding, processed_transcript	uc009ysa.1	nonsynonymous SNV	exon7	c.G348A	p.M116I	FFTGSPRVGKIVMTAATKHLTPVTL	FFTGSPRVGKIVITAATKHLTPVTL	3.0	8.0	unscreened	-	4253_11:67433114-67433114 C>T_FFTGSPRVGKIVITAATKHLTPVTL
12:6128185-6128185 G>A	0.0	4253	MELANOMA	-	-	-	-	VWF	uc001qnn.1,p.P1467S|NM_000552,p.P1467S|ENST00000261405,p.P1467S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001qnn.1	nonsynonymous SNV	exon28	c.C4399T	p.P1467S	SYLCDLAPEAPPPTLPPDMAQVTVG	SYLCDLAPEAPPSTLPPDMAQVTVG	7.0	8.0	unscreened	-	4253_12:6128185-6128185 G>A_SYLCDLAPEAPPSTLPPDMAQVTVG
4:48036995-48036995 C>T	0.0	4253	MELANOMA	-	-	-	-	NIPAL1	uc003gxw.3,p.H187Y|ENST00000295461,p.H187Y|NM_207330,p.H187Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc003gxw.3	nonsynonymous SNV	exon5	c.C559T	p.H187Y	ILSILGSTVMVIHAPQEEEVTSLHE	ILSILGSTVMVIYAPQEEEVTSLHE	5.0	6.0	unscreened	-	4253_4:48036995-48036995 C>T_ILSILGSTVMVIYAPQEEEVTSLHE
19:42191152-42191152 G>A	0.0	4253	MELANOMA	-	-	-	-	CEACAM7	uc010ehx.2,p.A22V|ENST00000602225,p.A22V|ENST00000401731,p.A22V|ENST00000006724,p.A22V|NM_006890,p.A22V|ENST00000338196,p.A22V|uc002ori.1,p.A22V|uc010ehy.1,p.A22V|NM_001291485,p.A22V	protein_coding, processed_transcript	uc010ehy.1	nonsynonymous SNV	exon2	c.C65T	p.A22V	RVCIPWQGLLLTASLLTFWNLPNSA	RVCIPWQGLLLTVSLLTFWNLPNSA	1.0	8.0	unscreened	-	4253_19:42191152-42191152 G>A_RVCIPWQGLLLTVSLLTFWNLPNSA
8:16007803-16007803 C>T	0.0	4253	MELANOMA	-	-	-	-	MSR1	uc010lsu.3,p.G324S|ENST00000355282,p.G306S|uc011kxz.2,p.G80S|NM_002445,p.G306S|ENST00000445506,p.G324S|uc003wxb.3,p.G306S|ENST00000262101,p.G306S|NM_138715,p.G306S|uc003wwz.3,p.G306S|ENST00000522672,p.G96S|ENST00000350896,p.G306S|uc003wxa.3,p.G306S|ENST00000381998,p.G306S|ENST00000536385,p.G80S|NM_138716,p.G306S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kxz.2	nonsynonymous SNV	exon5	c.G238A	p.G80S	GFPGPIGPPGLKGDRGAIGFPGSRG	GFPGPIGPPGLKSDRGAIGFPGSRG	7.0	5.0	unscreened	-	4253_8:16007803-16007803 C>T_GFPGPIGPPGLKSDRGAIGFPGSRG
19:33584350-33584350 A>C	0.0	4253	MELANOMA	-	-	-	-	GPATCH1	NM_018025,p.K127T|ENST00000170564,p.K127T|uc002nug.1,p.K127T	retained_intron, protein_coding, nonsense_mediated_decay	uc002nug.1	nonsynonymous SNV	exon4	c.A380C	p.K127T	DFASKTKDRIREKARQLAAATAPIP	DFASKTKDRIRETARQLAAATAPIP	8.0	3.0	unscreened	-	4253_19:33584350-33584350 A>C_DFASKTKDRIRETARQLAAATAPIP
21:19770530-19770530 C>T	0.0	4253	MELANOMA	-	-	-	-	TMPRSS15	uc002ykw.3,p.D88N|NM_002772,p.D88N|ENST00000422787,p.D43N|ENST00000284885,p.D88N	protein_coding, processed_transcript	uc002ykw.3	nonsynonymous SNV	exon2	c.G262A	p.D88N	DKLSVDFKVLAFDLQQMIDEIFLSS	DKLSVDFKVLAFNLQQMIDEIFLSS	2.0	9.0	unscreened	-	4253_21:19770530-19770530 C>T_DKLSVDFKVLAFNLQQMIDEIFLSS
5:79030719-79030719 C>T	0.0	4253	MELANOMA	-	-	-	-	CMYA5	ENST00000446378,p.P2044L|NM_153610,p.P2044L|uc003kgc.3,p.P2044L	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.C6131T	p.P2044L	SKEDSQEKIKLPPERFFQKPVSGLS	SKEDSQEKIKLPLERFFQKPVSGLS	5.0	6.0	unscreened	-	4253_5:79030719-79030719 C>T_SKEDSQEKIKLPLERFFQKPVSGLS
15:90274793-90274793 G>A	0.0	4253	MELANOMA	-	-	-	-	WDR93	uc010upz.2,p.G161R|ENST00000268130,p.G444R|uc002boj.3,p.G444R|ENST00000444934,p.G161R|NM_020212,p.G444R	protein_coding	uc010upz.2	nonsynonymous SNV	exon6	c.G481A	p.G161R	EDGVLTLWDLAKGFPLGVAALPQGC	EDGVLTLWDLAKRFPLGVAALPQGC	5.0	3.0	unscreened	-	4253_15:90274793-90274793 G>A_EDGVLTLWDLAKRFPLGVAALPQGC
20:39709819-39709819 C>T	1.0	4253	MELANOMA	-	-	-	1	TOP1	uc002xjl.3,p.P149L|ENST00000361337,p.P149L|NM_003286,p.P149L	protein_coding	uc002xjl.3	nonsynonymous SNV	exon7	c.C446T	p.P149L	KRPRDEDDADYKPKKIKTEDTKKEK	KRPRDEDDADYKLKKIKTEDTKKEK	9.0	4.0	unscreened	-	4253_20:39709819-39709819 C>T_KRPRDEDDADYKLKKIKTEDTKKEK
X:10163079-10163079 G>A	0.0	4253	MELANOMA	-	-	-	-	CLCN4	ENST00000380829,p.D125N|NM_001256944,p.D31N|ENST00000421085,p.D31N|ENST00000454850,p.D125N|NM_001830,p.D125N|uc011mid.3,p.D31N|uc004csy.4,p.D125N|ENST00000380833,p.D125N	protein_coding	uc011mid.3	nonsynonymous SNV	exon3	c.G91A	p.D31N	QCCWTSNETTFEDRDKCPLWQKWSE	QCCWTSNETTFENRDKCPLWQKWSE	5.0	10.0	unscreened	-	4253_X:10163079-10163079 G>A_QCCWTSNETTFENRDKCPLWQKWSE
4:94032071-94032071 G>A	1.0	4253	MELANOMA	-	-	-	-	GRID2	NM_001510,p.M234I|ENST00000510992,p.M139I|uc011cdu.2,p.M139I|NM_001286838,p.M139I|ENST00000282020,p.M234I|uc011cdt.2,p.M234I|uc010ikx.3,p.M234I	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cdu.2	nonsynonymous SNV	exon3	c.G417A	p.M139I	RYRDTLRRAILVMNPATAKSFITEV	RYRDTLRRAILVINPATAKSFITEV	5.0	6.0	unscreened	-	4253_4:94032071-94032071 G>A_RYRDTLRRAILVINPATAKSFITEV
6:36931308-36931308 C>T	0.0	4253	MELANOMA	-	-	-	-	PI16	uc021yzd.1,p.S397F|NM_153370,p.S397F|ENST00000373674,p.S397F|uc011dts.1,p.S168F|uc003ona.3,p.S397F|NM_001199159,p.S397F	protein_coding, processed_transcript	uc021yzd.1	nonsynonymous SNV	exon6	c.C1190T	p.S397F	ATLDHTGHTSSKSLPNFPNTSATAN	ATLDHTGHTSSKFLPNFPNTSATAN	4.0	3.0	unscreened	-	4253_6:36931308-36931308 C>T_ATLDHTGHTSSKFLPNFPNTSATAN
3:195507943-195507943 C>G	0.0	4253	MELANOMA	-	-	-	2	MUC4	ENST00000477086,p.S3503T|ENST00000470451,p.S3503T|ENST00000463781,p.S3503T|uc021xjp.1,p.S3503T|ENST00000480843,p.S3503T|ENST00000475231,p.S3503T|ENST00000477756,p.S3503T|ENST00000478156,p.S3503T|ENST00000466475,p.S3503T|NM_018406,p.S3503T|ENST00000479406,p.S3503T|ENST00000462323,p.S3503T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G10508C	p.S3503T	VTIPSSASTGDTSTLPVTGASSAST	VTIPSSASTGDTTTLPVTGASSAST	3.0	1.0	unscreened	-	4253_3:195507943-195507943 C>G_VTIPSSASTGDTTTLPVTGASSAST
10:48414222-48414222 G>A	0.0	4253	MELANOMA	-	-	-	-	GDF2	NM_016204,p.R216W|ENST00000249598,p.R216W|uc001jfa.1,p.R216W	protein_coding	uc001jfa.1	nonsynonymous SNV	exon2	c.C646T	p.R216W	TLEVSSAVKRWVRSDSTKSKNKLEV	TLEVSSAVKRWVWSDSTKSKNKLEV	1.0	10.0	unscreened	-	4253_10:48414222-48414222 G>A_TLEVSSAVKRWVWSDSTKSKNKLEV
6:78538691-78538691 G>A	0.0	4253	MELANOMA	-	-	-	-	MEI4	NM_001282136,p.G271E|ENST00000602452,p.G271E	-	NM_001282136	nonsynonymous SNV	exon3	c.G812A	p.G271E	VQHYVSQSLVTLGNCSLLRKSIISL	VQHYVSQSLVTLENCSLLRKSIISL	1.0	10.0	unscreened	-	4253_6:78538691-78538691 G>A_VQHYVSQSLVTLENCSLLRKSIISL
5:101627055-101627055 A>T	1.0	4253	MELANOMA	-	-	-	-	SLCO4C1	NM_180991,p.L204H|uc003knm.3,p.L204H|ENST00000310954,p.L204H	protein_coding	uc003knm.3	nonsynonymous SNV	exon2	c.T611A	p.L204H	PQFFSGEYKLGSLFEDTCVTTRNST	PQFFSGEYKLGSHFEDTCVTTRNST	2.0	5.0	unscreened	-	4253_5:101627055-101627055 A>T_PQFFSGEYKLGSHFEDTCVTTRNST
6:73904457-73904457 C>T	0.0	4253	MELANOMA	-	-	-	-	KCNQ5	ENST00000342056,p.P726S|uc011dyh.2,p.P726S|ENST00000403813,p.P698S|NM_001160133,p.P726S|uc011dyi.2,p.P717S|uc010kat.3,p.P698S|ENST00000355194,p.P707S|ENST00000355635,p.P708S|uc011dyj.2,p.P597S|NM_001160134,p.P597S|uc011dyk.2,p.P457S|NM_019842,p.P707S|ENST00000370398,p.P707S|NM_001160130,p.P698S|ENST00000414165,p.P597S|ENST00000402622,p.P717S|uc003pgk.3,p.P707S|NM_001160132,p.P717S	protein_coding	uc011dyk.2	nonsynonymous SNV	exon12	c.C1369T	p.P457S	NEFSAQTFYALSPTMHSQATQVPIS	NEFSAQTFYALSSTMHSQATQVPIS	3.0	10.0	unscreened	-	4253_6:73904457-73904457 C>T_NEFSAQTFYALSSTMHSQATQVPIS
12:104152987-104152987 C>T	0.0	4253	MELANOMA	-	-	-	-	STAB2	NM_017564,p.T2395I|ENST00000388887,p.T2395I|uc001tjw.3,p.T2395I	retained_intron, protein_coding, nonsense_mediated_decay	uc001tjw.3	nonsynonymous SNV	exon65	c.C7184T	p.T2395I	VSMFFYNDLVNGTTLQTRLGSKLLI	VSMFFYNDLVNGITLQTRLGSKLLI	2.0	7.0	unscreened	-	4253_12:104152987-104152987 C>T_VSMFFYNDLVNGITLQTRLGSKLLI
5:74400234-74400234 G>A	0.0	4253	MELANOMA	-	-	-	-	ANKRD31	ENST00000274361,p.S1660F|NM_001164443,p.S1660F|uc003kdo.2,p.S1660F	protein_coding, processed_transcript	uc003kdo.2	nonsynonymous SNV	exon21	c.C4979T	p.S1660F	VHQMKPYLKKSVSVVPCADDSQISS	VHQMKPYLKKSVFVVPCADDSQISS	4.0	7.0	unscreened	-	4253_5:74400234-74400234 G>A_VHQMKPYLKKSVFVVPCADDSQISS
X:152686818-152686818 C>T	0.0	4253	MELANOMA	-	-	-	-	ZFP92	NM_001136273,p.A328V|uc011myo.2,p.A328V|ENST00000338647,p.A328V	protein_coding	uc011myo.2	nonsynonymous SNV	exon4	c.C983T	p.A328V	GERPFACRECGKAFRGRSGLSQHRR	GERPFACRECGKVFRGRSGLSQHRR	2.0	10.0	unscreened	-	4253_X:152686818-152686818 C>T_GERPFACRECGKVFRGRSGLSQHRR
8:143998620-143998620 C>T	0.0	4253	MELANOMA	-	-	-	-	CYP11B2	NM_000498,p.G84R|ENST00000323110,p.G84R|uc003yxk.1,p.G84R	protein_coding	uc003yxk.1	nonsynonymous SNV	exon2	c.G250A	p.G84R	FQELGPIFRYNLGGPRMVCVMLPED	FQELGPIFRYNLRGPRMVCVMLPED	1.0	4.0	unscreened	-	4253_8:143998620-143998620 C>T_FQELGPIFRYNLRGPRMVCVMLPED
X:72092309-72092309 C>T	0.0	4253	MELANOMA	-	-	-	-	DMRTC1,DMRTC1B	ENST00000290273,p.G121R|uc010nln.3,p.G121R|uc004ebc.3,p.G186R|ENST00000373529,p.G186R|NM_033053,p.G186R|ENST00000373530,p.G121R|NM_001080851,p.G186R	protein_coding, nonsense_mediated_decay	uc010nln.3	nonsynonymous SNV	exon5	c.G361A	p.G121R	PASSISLPIGHLGCISLLS	PASSISLPIGHLRCISLLS	1.0	6.0	unscreened	-	4253_X:72092309-72092309 C>T_PASSISLPIGHLRCISLLS
6:96651713-96651713 G>A	0.0	4253	MELANOMA	-	-	-	-	FUT9	NM_006581,p.D228N|uc003pop.4,p.D228N|ENST00000302103,p.D228N|uc021zcw.1,p.D228N	protein_coding, processed_transcript	uc021zcw.1	nonsynonymous SNV	exon1	c.G682A	p.D228N	HTYGQAFGEYVNDKNLIPTISTCKF	HTYGQAFGEYVNNKNLIPTISTCKF	1.0	10.0	unscreened	-	4253_6:96651713-96651713 G>A_HTYGQAFGEYVNNKNLIPTISTCKF
4:156784886-156784886 G>A	0.0	4253	MELANOMA	-	-	-	-	ASIC5	ENST00000537611,p.L21F|uc003ipe.1,p.L21F|NM_017419,p.L21F	protein_coding	uc003ipe.1	nonsynonymous SNV	exon2	c.C61T	p.L21F	VYAENGLLEKIKLCLSKKPLPSPTE	VYAENGLLEKIKFCLSKKPLPSPTE	1.0	6.0	unscreened	-	4253_4:156784886-156784886 G>A_VYAENGLLEKIKFCLSKKPLPSPTE
11:62288822-62288822 G>A	0.0	4253	MELANOMA	-	-	-	-	AHNAK	uc001ntl.3,p.A4356V|ENST00000378024,p.A4356V|NM_001620,p.A4356V	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.C13067T	p.A4356V	DIEISGPKVDIDAPDVSIEGPDAKL	DIEISGPKVDIDVPDVSIEGPDAKL	8.0	9.0	unscreened	-	4253_11:62288822-62288822 G>A_DIEISGPKVDIDVPDVSIEGPDAKL
2:155098607-155098607 G>A	0.0	4253	MELANOMA	-	-	-	-	GALNT13	NM_001301627,p.E126K|uc002tyt.4,p.E126K|uc002tyr.4,p.E126K|NM_052917,p.E126K|ENST00000392825,p.E126K|ENST00000409237,p.E126K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tyt.4	nonsynonymous SNV	exon3	c.G376A	p.E126K	LPNTSVVIVFHNEAWSTLLRTVYSV	LPNTSVVIVFHNKAWSTLLRTVYSV	4.0	8.0	unscreened	-	4253_2:155098607-155098607 G>A_LPNTSVVIVFHNKAWSTLLRTVYSV
1:110293322-110293322 C>T	0.0	4253	MELANOMA	-	-	-	-	EPS8L3	uc001dyr.2,p.R577Q|uc001dys.2,p.R547Q|uc009wfm.2,p.R514Q|NM_133181,p.R577Q|NM_139053,p.R578Q|ENST00000369805,p.R578Q|ENST00000361852,p.R547Q|NM_024526,p.R547Q|ENST00000361965,p.R577Q|uc001dyq.2,p.R578Q	protein_coding, processed_transcript	uc009wfm.2	nonsynonymous SNV	exon17	c.G1541A	p.R514Q	GELQMLCPQEAPRILSRLEAVRRML	GELQMLCPQEAPQILSRLEAVRRML	1.0	9.0	unscreened	-	4253_1:110293322-110293322 C>T_GELQMLCPQEAPQILSRLEAVRRML
3:24003669-24003669 G>A	1.0	4253	MELANOMA	-	-	-	-	NR1D2	uc003ccs.2,p.S240N|ENST00000383773,p.S240N|NM_005126,p.S240N|NM_001145425,p.S165N|uc011awk.1,p.S165N|ENST00000312521,p.S240N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011awk.1	nonsynonymous SNV	exon5	c.G494A	p.S165N	RPKPQLEQENIKSSSPPSSDFAKEE	RPKPQLEQENIKNSSPPSSDFAKEE	6.0	1.0	unscreened	-	4253_3:24003669-24003669 G>A_RPKPQLEQENIKNSSPPSSDFAKEE
14:91770124-91770124 C>T	0.0	4253	MELANOMA	-	-	-	-	CCDC88C	NM_001080414,p.E1186K|ENST00000389857,p.E1186K|uc010aty.3,p.E1186K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010aty.3	nonsynonymous SNV	exon20	c.G3556A	p.E1186K	LGTLHERQSAEYEALIRQHSCLKTL	LGTLHERQSAEYKALIRQHSCLKTL	6.0	9.0	unscreened	-	4253_14:91770124-91770124 C>T_LGTLHERQSAEYKALIRQHSCLKTL
15:87097595-87097595 C>T	0.0	4253	MELANOMA	-	-	-	-	AGBL1	ENST00000421325,p.L895F|uc002blz.1,p.L895F|ENST00000441037,p.L895F|NM_152336,p.L895F|ENST00000389298,p.L626F	retained_intron, protein_coding	uc002blz.1	nonsynonymous SNV	exon20	c.C2683T	p.L895F	TSTILEEVNYRTLPKILDKLAPAFT	TSTILEEVNYRTFPKILDKLAPAFT	3.0	8.0	unscreened	-	4253_15:87097595-87097595 C>T_TSTILEEVNYRTFPKILDKLAPAFT
10:30317282-30317282 C>T	0.0	4253	MELANOMA	-	-	-	-	KIAA1462	uc001iuz.3,p.D461N|ENST00000375377,p.D599N|NM_020848,p.D599N|uc009xle.2,p.D599N|uc001iux.3,p.D599N	protein_coding, processed_transcript	uc009xle.2	nonsynonymous SNV	exon3	c.G1795A	p.D599N	VKSESHLPDRDMDNNDLKPSADQKN	VKSESHLPDRDMNNNDLKPSADQKN	8.0	10.0	unscreened	-	4253_10:30317282-30317282 C>T_VKSESHLPDRDMNNNDLKPSADQKN
5:151239436-151239436 G>A	0.0	4253	MELANOMA	-	-	-	-	GLRA1	NM_001292000,p.A46V|uc003lut.3,p.A129V|NM_000171,p.A129V|ENST00000545569,p.A46V|NM_001146040,p.A129V|ENST00000274576,p.A129V|uc003lus.3,p.A46V|uc003lur.3,p.A129V|ENST00000455880,p.A129V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003lut.3	nonsynonymous SNV	exon4	c.C386T	p.A129V	MLDSIWKPDLFFANEKGAHFHEITT	MLDSIWKPDLFFVNEKGAHFHEITT	1.0	6.0	unscreened	-	4253_5:151239436-151239436 G>A_MLDSIWKPDLFFVNEKGAHFHEITT
4:129100628-129100628 T>A	1.0	4253	MELANOMA	-	-	-	-	LARP1B	NM_018078,p.M655K|uc003igc.3,p.M74K|ENST00000326639,p.M655K|ENST00000264584,p.M596K|ENST00000441387,p.M655K|uc003iga.3,p.M655K|ENST00000354456,p.M74K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003igc.3	nonsynonymous SNV	exon3	c.T221A	p.M74K	TNPPLECHVGWVMDSRDRGPGTSSV	TNPPLECHVGWVKDSRDRGPGTSSV	9.0	5.0	unscreened	-	4253_4:129100628-129100628 T>A_TNPPLECHVGWVKDSRDRGPGTSSV
4:151773248-151773248 A>G	0.0	4253	MELANOMA	-	-	-	-	LRBA	NM_001199282,p.L1205P|uc003ilu.4,p.L1205P|ENST00000357115,p.L1205P|ENST00000507224,p.L1205P|NM_006726,p.L1205P|uc010ipj.3,p.L1205P|ENST00000510413,p.L1205P|ENST00000535741,p.L1205P	retained_intron, protein_coding, processed_transcript	uc010ipj.3	nonsynonymous SNV	exon23	c.T3614C	p.L1205P	ETTVSQIAVESDLGQMLEEGKKATN	ETTVSQIAVESDPGQMLEEGKKATN	8.0	5.0	unscreened	-	4253_4:151773248-151773248 A>G_ETTVSQIAVESDPGQMLEEGKKATN
3:121289589-121289589 C>T	0.0	4253	MELANOMA	-	-	-	-	ARGFX	uc003eef.3,p.P10L|ENST00000334384,p.P10L|NM_001012659,p.P10L	protein_coding	uc003eef.3	nonsynonymous SNV	exon2	c.C29T	p.P10L	MRNRMAPENPQPDPFINRNYSN	MRNRMAPENLQPDPFINRNYSN	1.0	2.0	unscreened	-	4253_3:121289589-121289589 C>T_MRNRMAPENLQPDPFINRNYSN
2:102957145-102957145 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1690835,COSM1690836;OCCURENCE=1(skin)	-	IL1RL1	ENST00000409584,p.G156E|NM_003856,p.G156E|ENST00000233954,p.G156E|uc002tbu.1,p.G156E|NM_016232,p.G156E|NM_001282408,p.G39E|ENST00000404917,p.G39E|uc002tbv.3,p.G156E|uc010ywa.2,p.G39E|ENST00000311734,p.G156E|ENST00000393393,p.G156E|ENST00000427077,p.G156E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ywa.2	nonsynonymous SNV	exon4	c.G116A	p.G39E	PLEWFKNCQALQGSRYRAHKSFLVI	PLEWFKNCQALQESRYRAHKSFLVI	3.0	1.0	unscreened	-	4253_2:102957145-102957145 G>A_PLEWFKNCQALQESRYRAHKSFLVI
5:140502733-140502733 C>T	0.0	4253	MELANOMA	0.01	-	-	-	PCDHB4	ENST00000194152,p.P385S|uc003lip.1,p.P385S|NM_018938,p.P385S	protein_coding	uc003lip.1	nonsynonymous SNV	exon1	c.C1153T	p.P385S	DSGENGKMICSIPDNLPFILKPTLK	DSGENGKMICSISDNLPFILKPTLK	4.0	6.0	unscreened	-	4253_5:140502733-140502733 C>T_DSGENGKMICSISDNLPFILKPTLK
5:1878175-1878175 G>A	0.0	4253	MELANOMA	-	-	-	-	IRX4	NM_016358,p.P490S|NM_001278633,p.P516S|NM_001278632,p.P490S|uc031sir.1,p.P490S|ENST00000231357,p.P490S|uc031siq.1,p.P516S|uc003jcz.2,p.P490S|NM_001278635,p.P516S|uc031sio.1,p.P516S|ENST00000513692,p.P490S|uc031sip.1,p.P490S|ENST00000505790,p.P490S|NM_001278634,p.P490S|uc011cmf.2,p.P351S	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sir.1	nonsynonymous SNV	exon6	c.C1468T	p.P490S	ANVLTAPLARAFPPAVPQDAPAAGA	ANVLTAPLARAFSPAVPQDAPAAGA	3.0	5.0	unscreened	-	4253_5:1878175-1878175 G>A_ANVLTAPLARAFSPAVPQDAPAAGA
1:74954873-74954873 G>A	0.0	4253	MELANOMA	-	-	-	-	FPGT-TNNI3K,TNNI3K	uc001dgf.2,p.G708R|ENST00000326637,p.G708R|uc001dge.2,p.G809R|NM_015978,p.G708R|ENST00000370891,p.G809R|NM_001112808,p.G822R|ENST00000557284,p.G809R	retained_intron, protein_coding, processed_transcript	uc001dgf.2	nonsynonymous SNV	exon22	c.G2122A	p.G708R	SLLIRGWNACPEGRPEFSEVVMKLE	SLLIRGWNACPERRPEFSEVVMKLE	6.0	6.0	unscreened	-	4253_1:74954873-74954873 G>A_SLLIRGWNACPERRPEFSEVVMKLE
8:135613971-135613971 G>A	1.0	4253	MELANOMA	-	-	-	-	ZFAT	uc010meh.3,p.S652L|uc003yup.3,p.S664L|NM_001029939,p.S652L|ENST00000520356,p.S652L|uc003yur.3,p.S652L|NM_001174157,p.S602L|NM_020863,p.S664L|NM_001174158,p.S652L|uc010mej.3,p.S602L|uc003yun.3,p.S652L|uc003yuq.3,p.S652L|ENST00000523243,p.S664L|ENST00000520727,p.S652L|ENST00000520214,p.S652L|NM_001167583,p.S652L|ENST00000377838,p.S664L|NM_001289394,p.S652L|ENST00000523399,p.S602L|uc003yuo.3,p.S652L|ENST00000429442,p.S652L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mej.3	nonsynonymous SNV	exon5	c.C1805T	p.S602L	SPLGEGQNMAVLSAGDPDPSRCLRS	SPLGEGQNMAVLLAGDPDPSRCLRS	7.0	4.0	unscreened	-	4253_8:135613971-135613971 G>A_SPLGEGQNMAVLLAGDPDPSRCLRS
10:123842391-123842391 G>A	0.0	4253	MELANOMA	-	-	-	-	TACC2	NM_001291877,p.A126T|ENST00000369005,p.A126T|ENST00000453444,p.A126T|ENST00000515273,p.A126T|uc010qtv.2,p.A126T|ENST00000334433,p.A126T|uc001lfv.3,p.A126T|uc009xzx.3,p.A126T|ENST00000515603,p.A126T|NM_001291876,p.A126T|NM_206862,p.A126T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qtv.2	nonsynonymous SNV	exon4	c.G376A	p.A126T	AECPPEGCLASPAAAPEDGPQTQSP	AECPPEGCLASPTAAPEDGPQTQSP	7.0	10.0	unscreened	-	4253_10:123842391-123842391 G>A_AECPPEGCLASPTAAPEDGPQTQSP
8:69380983-69380983 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1700214,COSM1700213;OCCURENCE=1(skin)	-	C8orf34	NM_052958,p.D222N|uc010lyy.2,p.D222N|ENST00000539993,p.D136N|uc010lyz.3,p.D222N|uc003xyb.3,p.D111N|ENST00000518698,p.D222N|ENST00000348340,p.D136N|ENST00000337103,p.D111N|ENST00000521406,p.D111N|NM_001195639,p.D222N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lyz.3	nonsynonymous SNV	exon4	c.G664A	p.D222N	PKWNWRTKPQSRDFDELNHILQESK	PKWNWRTKPQSRNFDELNHILQESK	4.0	10.0	unscreened	-	4253_8:69380983-69380983 G>A_PKWNWRTKPQSRNFDELNHILQESK
9:85677587-85677587 C>T	0.0	4253	MELANOMA	-	-	-	-	RASEF	ENST00000340717,p.E66K|NM_152573,p.E66K|ENST00000376447,p.E66K|uc004amo.2,p.E66K|uc004amp.1,p.E66K	protein_coding	uc004amp.1	nonsynonymous SNV	exon1	c.G196A	p.E66K	LDADRDGAITFQEFARGFLGSLRGG	LDADRDGAITFQKFARGFLGSLRGG	2.0	10.0	unscreened	-	4253_9:85677587-85677587 C>T_LDADRDGAITFQKFARGFLGSLRGG
10:75435733-75435733 G>A	0.0	4253	MELANOMA	-	-	-	-	AGAP5	uc001juu.4,p.P190S|ENST00000374094,p.P229S|ENST00000443782,p.P206S|uc009xri.3,p.P229S|NM_001144000,p.P229S	protein_coding	uc009xri.3	nonsynonymous SNV	exon8	c.C685T	p.P229S	SIPSTPSTSQEDPQFSVPPTANTPT	SIPSTPSTSQEDSQFSVPPTANTPT	6.0	9.0	unscreened	-	4253_10:75435733-75435733 G>A_SIPSTPSTSQEDSQFSVPPTANTPT
6:132938576-132938576 C>A	0.0	4253	MELANOMA	-	-	-	-	TAAR2	ENST00000275191,p.D212Y|NM_014626,p.D212Y|ENST00000367931,p.D257Y|uc010kfr.1,p.D212Y|NM_001033080,p.D257Y|uc003qdl.1,p.D257Y|ENST00000537809,p.D212Y	protein_coding	uc010kfr.1	nonsynonymous SNV	exon1	c.G634T	p.D212Y	NLRENQNNQVKKDKKAAKTLGIVIG	NLRENQNNQVKKYKKAAKTLGIVIG	1.0	10.0	unscreened	-	4253_6:132938576-132938576 C>A_NLRENQNNQVKKYKKAAKTLGIVIG
X:140335748-140335748 C>T	0.0	4253	MELANOMA	-	-	-	-	LDOC1,SPANXA2-OT1	ENST00000358993,p.E66K|uc004fbk.3,p.E66K	protein_coding	uc004fbk.3	nonsynonymous SNV	exon2	c.G196A	p.E66K	RYRRNVKRTSPEELLNDHARENRIN	RYRRNVKRTSPEKLLNDHARENRIN	4.0	10.0	unscreened	-	4253_X:140335748-140335748 C>T_RYRRNVKRTSPEKLLNDHARENRIN
1:158687196-158687196 A>T	0.0	4253	MELANOMA	-	-	-	-	OR6K3	ENST00000368145,p.F237Y|NM_001005327,p.F237Y|ENST00000368146,p.F253Y|uc021pbn.1,p.F237Y	protein_coding	uc021pbn.1	nonsynonymous SNV	exon1	c.T710A	p.F237Y	LRIPSSEGRQKAFSTCAGHLMVFPI	LRIPSSEGRQKAYSTCAGHLMVFPI	1.0	6.0	unscreened	-	4253_1:158687196-158687196 A>T_LRIPSSEGRQKAYSTCAGHLMVFPI
11:92531028-92531028 G>A	0.0	4253	MELANOMA	-	-	-	2	FAT3	ENST00000525166,p.E1467K|ENST00000298047,p.E1617K|ENST00000409404,p.E1617K|uc001pdj.4,p.E1617K|NM_001008781,p.E1617K	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon9	c.G4849A	p.E1617K	IEAGNTGNMFKIEPVLGIITICKEP	IEAGNTGNMFKIKPVLGIITICKEP	3.0	1.0	unscreened	-	4253_11:92531028-92531028 G>A_IEAGNTGNMFKIKPVLGIITICKEP
2:179472662-179472662 G>A	0.0	4253	MELANOMA	-	-	-	-	TTN	uc021vtb.2,p.R8553C|ENST00000591111,p.R15977C|uc021vsz.2,p.R8745C|NM_133378,p.R15050C|NM_001256850,p.R15977C|NM_133437,p.R8745C|uc021vta.2,p.R8678C|NM_003319,p.R8553C|NM_001267550,p.R17618C|ENST00000342175,p.R8745C|uc031rqd.1,p.R15977C|NM_133432,p.R8678C|ENST00000589042,p.R17618C|ENST00000460472,p.R8553C|ENST00000359218,p.R8678C|ENST00000342992,p.R15050C|uc021vsy.2,p.R15050C|uc031rqc.1,p.R17618C	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon226	c.C47929T	p.R15977C	VDKQLVGTNEWSRCTEKMIKVRQYT	VDKQLVGTNEWSCCTEKMIKVRQYT	5.0	2.0	unscreened	-	4253_2:179472662-179472662 G>A_VDKQLVGTNEWSCCTEKMIKVRQYT
7:141635690-141635690 G>A	0.0	4253	MELANOMA	-	-	-	-	CLEC5A	uc003vwv.1,p.S90L|uc011krm.1,p.S67L|uc010lnq.1,p.S67L|ENST00000546910,p.S90L|uc003vww.1,p.S90L|NM_013252,p.S90L|ENST00000551012,p.S67L|NM_001301167,p.S67L|ENST00000438351,p.S67L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011krm.1	nonsynonymous SNV	exon3	c.C200T	p.S67L	YQARCFFLSTSESSWNESRDFCKGK	YQARCFFLSTSELSWNESRDFCKGK	6.0	4.0	unscreened	-	4253_7:141635690-141635690 G>A_YQARCFFLSTSELSWNESRDFCKGK
7:50595879-50595879 C>T	0.0	4253	MELANOMA	-	-	-	-	DDC	NM_000790,p.E224K|ENST00000444124,p.E224K|uc022adf.1,p.E224K|uc022ade.1,p.E146K|ENST00000426377,p.E146K|NM_001242886,p.E186K|NM_001242890,p.E224K|uc022adb.1,p.E186K|NM_001082971,p.E224K|NM_001242888,p.E146K|uc003tpg.4,p.E224K|uc003tpf.4,p.E224K|ENST00000357936,p.E224K|ENST00000380984,p.E224K|ENST00000444733,p.E186K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022adf.1	nonsynonymous SNV	exon6	c.G670A	p.E224K	DGNFAMRASALQEALERDKAAGLIP	DGNFAMRASALQKALERDKAAGLIP	3.0	9.0	unscreened	-	4253_7:50595879-50595879 C>T_DGNFAMRASALQKALERDKAAGLIP
17:60024309-60024309 G>C	0.0	4253	MELANOMA	-	-	-	-	MED13	uc002izo.3,p.L2121V|NM_005121,p.L2121V|ENST00000397786,p.L2121V	retained_intron, protein_coding, processed_transcript	uc002izo.3	nonsynonymous SNV	exon29	c.C6361G	p.L2121V	SDELLHSKHSHPLDSNQTSDVLRFV	SDELLHSKHSHPVDSNQTSDVLRFV	7.0	1.0	unscreened	-	4253_17:60024309-60024309 G>C_SDELLHSKHSHPVDSNQTSDVLRFV
X:84526776-84526776 G>A	1.0	4253	MELANOMA	-	-	ID=COSM390958;OCCURENCE=1(lung)	-	ZNF711	ENST00000360700,p.R789Q|ENST00000395402,p.R751Q|ENST00000276123,p.R743Q|uc011mqy.1,p.R342Q|ENST00000373165,p.R743Q|uc004eep.3,p.R743Q|NM_021998,p.R743Q|uc004eeo.3,p.R743Q|ENST00000542798,p.R585Q|uc004eeq.3,p.R789Q	protein_coding	uc011mqy.1	nonsynonymous SNV	exon3	c.G1025A	p.R342Q	YPHRCEFCKKGFRRPSEKNQHIMRH	YPHRCEFCKKGFQRPSEKNQHIMRH	6.0	10.0	unscreened	-	4253_X:84526776-84526776 G>A_YPHRCEFCKKGFQRPSEKNQHIMRH
7:131888165-131888165 C>T	0.0	4253	MELANOMA	-	-	-	-	PLXNA4	uc003vra.4,p.G771E|ENST00000321063,p.G771E|ENST00000359827,p.G771E|NM_020911,p.G771E	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon11	c.G2312A	p.G771E	SVQCQNTSYSYEGMEINNLPVELTV	SVQCQNTSYSYEEMEINNLPVELTV	4.0	4.0	unscreened	-	4253_7:131888165-131888165 C>T_SVQCQNTSYSYEEMEINNLPVELTV
5:80363876-80363876 G>A	0.0	4253	MELANOMA	-	-	-	-	RASGRF2	NM_006909,p.E141K|ENST00000265080,p.E141K|uc003kha.2,p.E141K|ENST00000503795,p.E141K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kha.2	nonsynonymous SNV	exon3	c.G421A	p.E141K	HQASYADILIEREVLMQKYIHLVQI	HQASYADILIERKVLMQKYIHLVQI	5.0	8.0	unscreened	-	4253_5:80363876-80363876 G>A_HQASYADILIERKVLMQKYIHLVQI
3:49294627-49294627 G>A	0.0	4253	MELANOMA	-	-	-	-	CCDC36	NM_178173,p.G566E|ENST00000452691,p.G566E|NM_001135197,p.G566E|ENST00000438782,p.G566E|uc011bck.1,p.G566E|ENST00000296449,p.G566E|uc003cwk.2,p.G566E	protein_coding, processed_transcript	uc011bck.1	nonsynonymous SNV	exon8	c.G1697A	p.G566E	DHQMSWFSDLNLGCSETPLCKEAGK	DHQMSWFSDLNLECSETPLCKEAGK	6.0	9.0	unscreened	-	4253_3:49294627-49294627 G>A_DHQMSWFSDLNLECSETPLCKEAGK
3:57430533-57430533 G>A	0.0	4253	MELANOMA	-	-	-	-	DNAH12	ENST00000351747,p.S1456L|ENST00000495027,p.S1479L|uc003dit.2,p.S1456L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dit.2	nonsynonymous SNV	exon29	c.C4367T	p.S1456L	YPNENEDILLLRSIKDVNEPKFLSH	YPNENEDILLLRLIKDVNEPKFLSH	4.0	9.0	unscreened	-	4253_3:57430533-57430533 G>A_YPNENEDILLLRLIKDVNEPKFLSH
17:34192331-34192331 G>A	0.0	4253	MELANOMA	-	-	-	-	HEATR9	ENST00000587573,p.P36S|ENST00000589015,p.P36S|ENST00000587626,p.P70S|ENST00000592980,p.P70S|NM_152781,p.P70S|ENST00000585840,p.P70S|ENST00000311880,p.P70S|uc002hke.1,p.P70S|uc010wcl.1,p.P70S|uc010wcm.1,p.P36S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wcm.1	nonsynonymous SNV	exon4	c.C106T	p.P36S	CWRQHPSKPNSVPYCYFKKPEIYTH	CWRQHPSKPNSVSYCYFKKPEIYTH	3.0	9.0	unscreened	-	4253_17:34192331-34192331 G>A_CWRQHPSKPNSVSYCYFKKPEIYTH
19:41704514-41704514 C>T	0.0	4253	MELANOMA	-	-	-	-	CYP2S1	NM_030622,p.S214F|ENST00000310054,p.S214F|uc002opw.3,p.S214F	protein_coding, nonsense_mediated_decay	uc002opw.3	nonsynonymous SNV	exon4	c.C641T	p.S214F	VRAAGGTLLGVSSQGGQTYEMFSWF	VRAAGGTLLGVSFQGGQTYEMFSWF	3.0	9.0	unscreened	-	4253_19:41704514-41704514 C>T_VRAAGGTLLGVSFQGGQTYEMFSWF
5:150429477-150429477 T>G	1.0	4253	MELANOMA	-	-	-	-	TNIP1	uc010jhm.4,p.M252L|uc011dco.3,p.M252L|uc010jhr.3,p.M252L|NM_001252386,p.M199L|uc031slv.1,p.M252L|ENST00000519339,p.M199L|NM_001252392,p.M252L|uc003ltj.3,p.M252L|ENST00000520931,p.M199L|ENST00000389378,p.M252L|uc003ltk.3,p.M252L|ENST00000522226,p.M252L|ENST00000521591,p.M252L|NM_001252385,p.M252L|NM_001258455,p.M252L|uc003ltg.4,p.M199L|uc010jhq.2,p.M199L|ENST00000523200,p.M252L|ENST00000315050,p.M252L|ENST00000523338,p.M252L|NM_001258454,p.M252L|uc021ygb.1,p.M252L|NM_001258456,p.M252L|uc010jhn.4,p.M252L|NM_006058,p.M252L|NM_001252390,p.M252L|uc010jhp.2,p.M199L|NM_001252391,p.M252L|ENST00000522100,p.M199L|NM_001252393,p.M252L|uc003lti.4,p.M252L|ENST00000518977,p.M252L|ENST00000524280,p.M252L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031slv.1	nonsynonymous SNV	exon8	c.A754C	p.M252L	LREENLELKKLLMSNGNKEGASGRP	LREENLELKKLLLSNGNKEGASGRP	10.0	4.0	unscreened	-	4253_5:150429477-150429477 T>G_LREENLELKKLLLSNGNKEGASGRP
8:23118074-23118074 C>T	1.0	4253	MELANOMA	-	-	-	-	CHMP7	NM_152272,p.P442S|ENST00000397677,p.P442S|ENST00000313219,p.P442S|uc003xdc.2,p.P442S|uc003xdd.2,p.P332S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xdd.2	nonsynonymous SNV	exon10	c.C994T	p.P332S	LSEGGLVPSSKSPKRQLEPTLKPL	LSEGGLVPSSKSSKRQLEPTLKPL	9.0	5.0	unscreened	-	4253_8:23118074-23118074 C>T_LSEGGLVPSSKSSKRQLEPTLKPL
X:127185837-127185837 C>T	0.0	4253	MELANOMA	-	-	ID=COSM231702;OCCURENCE=1(skin)	-	ACTRT1	NM_138289,p.E117K|uc004eum.3,p.E117K|ENST00000371124,p.E117K	protein_coding	uc004eum.3	nonsynonymous SNV	exon1	c.G349A	p.E117K	PVLMTEPSLNPREIREKLAEMMFET	PVLMTEPSLNPRKIREKLAEMMFET	1.0	10.0	unscreened	-	4253_X:127185837-127185837 C>T_PVLMTEPSLNPRKIREKLAEMMFET
3:195507337-195507337 G>A	0.0	4253	MELANOMA	-	-	-	2	MUC4	ENST00000470451,p.S3705L|uc021xjp.1,p.S3705L|ENST00000475231,p.S3705L|ENST00000462323,p.S3705L|ENST00000478156,p.S3705L|ENST00000479406,p.S3705L|ENST00000477086,p.S3705L|NM_018406,p.S3705L|ENST00000477756,p.S3705L|ENST00000463781,p.S3705L|ENST00000466475,p.S3705L|ENST00000480843,p.S3705L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C11114T	p.S3705L	QATPLPVTIPSSSSSGHTTPLPVTS	QATPLPVTIPSSLSSGHTTPLPVTS	3.0	2.0	unscreened	-	4253_3:195507337-195507337 G>A_QATPLPVTIPSSLSSGHTTPLPVTS
1:243328014-243328014 G>C	0.0	4253	MELANOMA	-	-	-	-	CEP170	uc021plq.1,p.S985C|NM_014812,p.S1083C|ENST00000366544,p.S985C|uc021plp.1,p.S985C|ENST00000366543,p.S985C|NM_001042405,p.S985C|NM_001042404,p.S985C|ENST00000366542,p.S1083C|uc001hzv.1,p.S461C|uc021plo.1,p.S1083C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021plq.1	nonsynonymous SNV	exon12	c.C2954G	p.S985C	SKVTKSKTSPVVSGSSSKSTTLPRP	SKVTKSKTSPVVCGSSSKSTTLPRP	8.0	1.0	unscreened	-	4253_1:243328014-243328014 G>C_SKVTKSKTSPVVCGSSSKSTTLPRP
4:123374954-123374954 C>T	1.0	4253	MELANOMA	-	-	-	1	IL2	ENST00000226730,p.E88K|NM_000586,p.E88K|uc003ier.3,p.E88K	retained_intron, protein_coding	uc003ier.3	nonsynonymous SNV	exon3	c.G262A	p.E88K	LQCLEEELKPLEEVLNLAQSKNFHL	LQCLEEELKPLEKVLNLAQSKNFHL	4.0	5.0	unscreened	-	4253_4:123374954-123374954 C>T_LQCLEEELKPLEKVLNLAQSKNFHL
1:153312974-153312974 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1688630;OCCURENCE=1(skin)	-	PGLYRP4	NM_020393,p.G236D|uc001fbo.3,p.G236D|uc001fbp.3,p.G232D|ENST00000359650,p.G236D|ENST00000368739,p.G232D	protein_coding, processed_transcript	uc001fbp.3	nonsynonymous SNV	exon7	c.G695A	p.G232D	THCPRMTLPAKYGIIIHTAGRTCNI	THCPRMTLPAKYDIIIHTAGRTCNI	1.0	6.0	unscreened	-	4253_1:153312974-153312974 C>T_THCPRMTLPAKYDIIIHTAGRTCNI
20:55908803-55908803 C>A	0.0	4253	MELANOMA	-	-	-	-	SPO11	ENST00000371260,p.T94N|uc002xyf.3,p.T94N|uc002xye.3,p.T132N|ENST00000418127,p.T110N|NM_198265,p.T94N|ENST00000345868,p.T94N|ENST00000371263,p.T132N|NM_012444,p.T132N	protein_coding, nonsense_mediated_decay	uc002xyf.3	nonsynonymous SNV	exon3	c.C281A	p.T94N	MIYKLVQSNTYATKRDIYYTDSQLF	MIYKLVQSNTYANKRDIYYTDSQLF	1.0	7.0	unscreened	-	4253_20:55908803-55908803 C>A_MIYKLVQSNTYANKRDIYYTDSQLF
5:110818546-110818546 C>T	0.0	4253	MELANOMA	-	-	-	-	CAMK4	uc010jbv.3,p.P101S|ENST00000282356,p.P298S|NM_001744,p.P298S|uc003kpf.3,p.P298S|ENST00000512453,p.P298S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jbv.3	nonsynonymous SNV	exon8	c.C301T	p.P101S	KKRLTTFQALQHPWVTGKAANFVHM	KKRLTTFQALQHSWVTGKAANFVHM	5.0	6.0	unscreened	-	4253_5:110818546-110818546 C>T_KKRLTTFQALQHSWVTGKAANFVHM
17:21319702-21319702 G>A	0.0	4253	MELANOMA	-	-	-	-	KCNJ12,KCNJ18	ENST00000583088,p.E350K|ENST00000331718,p.E350K|uc021tst.1,p.E350K|uc021tss.1,p.E350K|NM_001194958,p.E350K|NM_021012,p.E350K|uc002gyv.1,p.E350K	protein_coding	uc021tst.1	nonsynonymous SNV	exon1	c.G1048A	p.E350K	YKIDYSHFHKTYEVPSTPRCSAKDL	YKIDYSHFHKTYKVPSTPRCSAKDL	5.0	1.0	unscreened	-	4253_17:21319702-21319702 G>A_YKIDYSHFHKTYKVPSTPRCSAKDL
11:6007865-6007865 G>A	0.0	4253	MELANOMA	-	-	-	-	OR52L1	uc001mcd.2,p.A99V|NM_001005173,p.A99V|ENST00000332249,p.A99V	protein_coding	uc001mcd.2	nonsynonymous SNV	exon1	c.C296T	p.A99V	IDLVLASSTAPKALAVLLVHAHEIG	IDLVLASSTAPKVLAVLLVHAHEIG	1.0	7.0	unscreened	-	4253_11:6007865-6007865 G>A_IDLVLASSTAPKVLAVLLVHAHEIG
11:5153596-5153596 C>T	0.0	4253	MELANOMA	-	-	-	-	OR52A5	uc010qyx.2,p.E93K|NM_001005160,p.E93K|ENST00000307388,p.E93K	protein_coding	uc010qyx.2	nonsynonymous SNV	exon1	c.G277A	p.E93K	PKMLGIFWFHLPEISFDACLFQMWL	PKMLGIFWFHLPKISFDACLFQMWL	1.0	4.0	unscreened	-	4253_11:5153596-5153596 C>T_PKMLGIFWFHLPKISFDACLFQMWL
19:16910800-16910800 C>T	0.0	4253	MELANOMA	-	-	-	-	NWD1	ENST00000523826,p.S982F|NM_001290355,p.S1053F|NM_001007525,p.S1188F|ENST00000524140,p.S1188F|uc002net.4,p.S1053F|uc002neu.4,p.S1188F|ENST00000552788,p.S1188F|uc002nev.4,p.S982F|ENST00000339803,p.S1053F|ENST00000379808,p.S1188F	protein_coding, nonsense_mediated_decay	uc002nev.4	nonsynonymous SNV	exon16	c.C2945T	p.S982F	LLARGGALVASASPQSSSFKVWDLS	LLARGGALVASAFPQSSSFKVWDLS	1.0	2.0	unscreened	-	4253_19:16910800-16910800 C>T_LLARGGALVASAFPQSSSFKVWDLS
12:54798522-54798522 C>T	0.0	4253	MELANOMA	-	-	-	-	ITGA5	ENST00000293379,p.R461Q|uc001sga.3,p.R461Q|NM_002205,p.R461Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sga.3	nonsynonymous SNV	exon13	c.G1382A	p.R461Q	ASHTPDFFGSALRGGRDLDGNGYPD	ASHTPDFFGSALQGGRDLDGNGYPD	8.0	3.0	unscreened	-	4253_12:54798522-54798522 C>T_ASHTPDFFGSALQGGRDLDGNGYPD
4:10447653-10447660 AAAATGAA>-	0.0	4253	MELANOMA	-	-	-	-	ZNF518B	uc003gmn.3,p.F98fs|uc021xme.1,p.F98fs|ENST00000326756,p.F98fs|NM_053042,p.F98fs	retained_intron, protein_coding, processed_transcript	uc021xme.1	frameshift deletion	exon1	c.293_300del	p.F98fs	CFQCSLGAAPPNFHFVSNNSSATHV	CFQCSLGAAPPNCEQ	8.0	2.0	unscreened	-	4253_4:10447653-10447660 AAAATGAA>-_CFQCSLGAAPPNCEQ
12:8982353-8982353 A>G	0.0	4253	MELANOMA	-	-	-	-	A2ML1	NM_144670,p.N147S|ENST00000299698,p.N147S|uc001quz.5,p.N147S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001quz.5	nonsynonymous SNV	exon4	c.A440G	p.N147S	QQVYFRIVTMDSNFVPVNDKYSMVE	QQVYFRIVTMDSSFVPVNDKYSMVE	3.0	8.0	unscreened	-	4253_12:8982353-8982353 A>G_QQVYFRIVTMDSSFVPVNDKYSMVE
15:33988541-33988541 G>A	0.0	4253	MELANOMA	-	-	-	-	RYR3	uc010bar.3,p.E1995K|NM_001036,p.E1995K|ENST00000415757,p.E1995K|NM_001243996,p.E1995K|uc001zhi.3,p.E1995K|ENST00000389232,p.E1995K	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon39	c.G5983A	p.E1995K	FNLLRRQYDSIGELLQALRKTYTIS	FNLLRRQYDSIGKLLQALRKTYTIS	4.0	8.0	unscreened	-	4253_15:33988541-33988541 G>A_FNLLRRQYDSIGKLLQALRKTYTIS
8:11406595-11406595 A>G	0.0	4253	MELANOMA	-	-	-	-	BLK	NM_001715,p.N111S|ENST00000529894,p.N40S|uc003wty.3,p.N111S|ENST00000259089,p.N111S	retained_intron, protein_coding, processed_transcript	uc003wty.3	nonsynonymous SNV	exon5	c.A332G	p.N111S	SLVTGREGYVPSNFVARVESLEMER	SLVTGREGYVPSSFVARVESLEMER	4.0	6.0	unscreened	-	4253_8:11406595-11406595 A>G_SLVTGREGYVPSSFVARVESLEMER
1:101004784-101004784 G>A	0.0	4253	MELANOMA	-	-	-	-	GPR88	uc021oqq.1,p.E88K|NM_022049,p.E88K|ENST00000315033,p.E88K|uc001dth.3,p.E88K	protein_coding	uc021oqq.1	nonsynonymous SNV	exon1	c.G262A	p.E88K	ADLSVCALWMPQEAVLGLLPTGSAE	ADLSVCALWMPQKAVLGLLPTGSAE	2.0	2.0	unscreened	-	4253_1:101004784-101004784 G>A_ADLSVCALWMPQKAVLGLLPTGSAE
10:55569228-55569228 C>T	0.0	4253	MELANOMA	0.0	-	-	-	PCDH15	ENST00000395440,p.E462K|ENST00000395445,p.E1528K|ENST00000395442,p.E393K|ENST00000395446,p.E724K|uc010qht.2,p.E1526K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qht.2	nonsynonymous SNV	exon35	c.G4576A	p.E1526K	EPSEEEEVVVTIEKPPAAEPTYTTW	EPSEEEEVVVTIKKPPAAEPTYTTW	3.0	10.0	unscreened	-	4253_10:55569228-55569228 C>T_EPSEEEEVVVTIKKPPAAEPTYTTW
3:55504271-55504271 C>T	0.0	4253	MELANOMA	-	-	-	-	WNT5A	uc003dhm.3,p.G316D|uc010hmw.4,p.G316D|NM_001256105,p.G316D|ENST00000497027,p.G316D|ENST00000474267,p.G331D|uc003dhn.4,p.G331D|NM_003392,p.G331D|uc010hmx.4,p.G242D|ENST00000264634,p.G331D	retained_intron, protein_coding, processed_transcript	uc010hmx.4	nonsynonymous SNV	exon5	c.G725A	p.G242D	GTQGRLCNKTSEGMDGCELMCCGRG	GTQGRLCNKTSEDMDGCELMCCGRG	5.0	9.0	unscreened	-	4253_3:55504271-55504271 C>T_GTQGRLCNKTSEDMDGCELMCCGRG
17:34192330-34192330 G>A	0.0	4253	MELANOMA	-	-	-	-	HEATR9	uc010wcl.1,p.P70L|NM_152781,p.P70L|ENST00000585840,p.P70L|ENST00000587626,p.P70L|uc010wcm.1,p.P36L|ENST00000587573,p.P36L|ENST00000592980,p.P70L|ENST00000311880,p.P70L|uc002hke.1,p.P70L|ENST00000589015,p.P36L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wcm.1	nonsynonymous SNV	exon4	c.C107T	p.P36L	CWRQHPSKPNSVPYCYFKKPEIYTH	CWRQHPSKPNSVLYCYFKKPEIYTH	3.0	9.0	unscreened	-	4253_17:34192330-34192330 G>A_CWRQHPSKPNSVLYCYFKKPEIYTH
5:168233583-168233583 G>A	0.0	4253	MELANOMA	0.0009	-	-	-	SLIT3	uc003mab.4,p.S268L|uc010jji.2,p.S268L|ENST00000332966,p.S268L|uc010jjg.4,p.S268L|ENST00000404867,p.S268L|ENST00000519560,p.S268L|NM_003062,p.S268L|NM_001271946,p.S268L|uc003mac.1,p.S65L	retained_intron, protein_coding, processed_transcript	uc010jji.2	nonsynonymous SNV	exon9	c.C803T	p.S268L	VQKKEYVCPAPHSEPPSCNANSISC	VQKKEYVCPAPHLEPPSCNANSISC	5.0	5.0	unscreened	-	4253_5:168233583-168233583 G>A_VQKKEYVCPAPHLEPPSCNANSISC
2:179400856-179400856 C>T	0.0	4253	MELANOMA	-	-	-	-	TTN	ENST00000460472,p.G24475R|ENST00000359218,p.G24600R|ENST00000342992,p.G30972R|NM_003319,p.G24475R|NM_001267550,p.G33540R|NM_133437,p.G24667R|NM_001256850,p.G31899R|uc021vta.2,p.G24600R|uc021vsy.2,p.G30972R|NM_133432,p.G24600R|NM_133378,p.G30972R|ENST00000591111,p.G31899R|uc021vtb.2,p.G24475R|uc031rqd.1,p.G31899R|uc031rqc.1,p.G33540R|ENST00000342175,p.G24667R|uc021vsz.2,p.G24667R	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon307	c.G95695A	p.G31899R	KWYRQGKEIIADGLKYRIQEFKGGY	KWYRQGKEIIADRLKYRIQEFKGGY	5.0	8.0	unscreened	-	4253_2:179400856-179400856 C>T_KWYRQGKEIIADRLKYRIQEFKGGY
9:78910261-78910261 G>A	0.0	4253	MELANOMA	-	-	-	-	PCSK5	ENST00000424854,p.D759N|uc004akc.2,p.D1086N|ENST00000545128,p.D1086N|NM_001190482,p.D1086N	protein_coding	uc004akc.2	nonsynonymous SNV	exon26	c.G3256A	p.D1086N	KTYSEEVECKACDSNCGSCDQNGCY	KTYSEEVECKACNSNCGSCDQNGCY	8.0	10.0	unscreened	-	4253_9:78910261-78910261 G>A_KTYSEEVECKACNSNCGSCDQNGCY
12:53207658-53207658 G>A	0.0	4253	MELANOMA	-	-	-	-	KRT4	ENST00000548097,p.S62F	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000548097	nonsynonymous SNV	exon1	c.C185T	p.S62F	RSLYNLRGNKSISMSVAGSRQGAVL	RSLYNLRGNKSIFMSVAGSRQGAVL	2.0	2.0	unscreened	-	4253_12:53207658-53207658 G>A_RSLYNLRGNKSIFMSVAGSRQGAVL
12:53207658-53207658 G>A	0.0	4253	MELANOMA	-	-	-	-	KRT4	ENST00000552668,p.S62F	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000552668	nonsynonymous SNV	exon1	c.C185T	p.S62F	RSLYNLRGNKSISMSVAGSRQGGHH	RSLYNLRGNKSIFMSVAGSRQGGHH	2.0	2.0	unscreened	-	4253_12:53207658-53207658 G>A_RSLYNLRGNKSIFMSVAGSRQGGHH
12:53207658-53207658 G>A	0.0	4253	MELANOMA	-	-	-	-	KRT4	uc031qhk.1,p.S62F|NM_002272,p.S62F|ENST00000551956,p.S62F|ENST00000293774,p.S136F	retained_intron, protein_coding, nonsense_mediated_decay	uc031qhk.1	nonsynonymous SNV	exon1	c.C185T	p.S62F	RSLYNLRGNKSISMSVAGSRQGACF	RSLYNLRGNKSIFMSVAGSRQGACF	2.0	2.0	unscreened	-	4253_12:53207658-53207658 G>A_RSLYNLRGNKSIFMSVAGSRQGACF
2:242794964-242794964 A>G	0.0	4253	MELANOMA	-	-	-	-	PDCD1	NM_005018,p.F82S|ENST00000334409,p.F82S|uc010fzs.3,p.F13S|uc002wcq.4,p.F82S	protein_coding, nonsense_mediated_decay	uc010fzs.3	nonsynonymous SNV	exon1	c.T38C	p.F13S	MSPSNQTDKLAAFPEDRSQPGQDCR	MSPSNQTDKLAASPEDRSQPGQDCR	7.0	10.0	unscreened	-	4253_2:242794964-242794964 A>G_MSPSNQTDKLAASPEDRSQPGQDCR
3:38961472-38961472 C>T	1.0	4253	MELANOMA	-	-	-	-	SCN11A	ENST00000302328,p.E305K|NM_014139,p.E305K|ENST00000450244,p.E305K|NM_001287223,p.E305K|ENST00000456224,p.E305K|uc021wvy.1,p.E305K|ENST00000444237,p.E305K	protein_coding	uc021wvy.1	nonsynonymous SNV	exon7	c.G913A	p.E305K	NPEAYDHCFEKKENSPEFKMCGIWM	NPEAYDHCFEKKKNSPEFKMCGIWM	3.0	9.0	unscreened	-	4253_3:38961472-38961472 C>T_NPEAYDHCFEKKKNSPEFKMCGIWM
11:4936874-4936874 C>T	0.0	4253	MELANOMA	-	-	-	-	OR51G2	uc001lzr.1,p.G7E|NM_001005238,p.G7E|ENST00000322013,p.G7E	protein_coding	uc001lzr.1	nonsynonymous SNV	exon1	c.G20A	p.G7E	MTLGSLGNSSSSVSATFLL	MTLGSLENSSSSVSATFLL	2.0	9.0	unscreened	-	4253_11:4936874-4936874 C>T_MTLGSLENSSSSVSATFLL
1:171085366-171085366 C>T	0.0	4253	MELANOMA	-	-	-	-	FMO3	NM_006894,p.S401F|uc001ghi.3,p.S401F|uc010pmb.2,p.S381F|ENST00000392085,p.S401F|uc010pmc.2,p.S338F|uc001ghh.3,p.S401F|ENST00000367755,p.S401F|ENST00000538429,p.S338F|ENST00000542847,p.S381F|NM_001002294,p.S401F	protein_coding, processed_transcript	uc010pmc.2	nonsynonymous SNV	exon7	c.C1013T	p.S338F	AAQVIKGTCTLPSMEDMMNDINEKM	AAQVIKGTCTLPFMEDMMNDINEKM	5.0	9.0	unscreened	-	4253_1:171085366-171085366 C>T_AAQVIKGTCTLPFMEDMMNDINEKM
6:100838908-100838908 C>T	0.0	4253	MELANOMA	-	-	-	-	SIM1	ENST00000262901,p.E544K|uc003pqj.4,p.E544K|uc021zdg.1,p.E544K|ENST00000369208,p.E544K|NM_005068,p.E544K|uc010kcu.3,p.E544K	retained_intron, protein_coding	uc021zdg.1	nonsynonymous SNV	exon11	c.G1630A	p.E544K	SVVSSPDPGSASESGDRYRTEQYQS	SVVSSPDPGSASKSGDRYRTEQYQS	1.0	10.0	unscreened	-	4253_6:100838908-100838908 C>T_SVVSSPDPGSASKSGDRYRTEQYQS
2:215835045-215835045 C>T	0.0	4253	MELANOMA	-	-	-	-	ABCA12	NM_173076,p.R1881Q|uc002vev.3,p.R1563Q|uc002vew.3,p.R1881Q|uc010zjn.2,p.R808Q|ENST00000389661,p.R1563Q|ENST00000272895,p.R1881Q|NM_015657,p.R1563Q	protein_coding	uc010zjn.2	nonsynonymous SNV	exon39	c.G2423A	p.R808Q	YSSQVIYNLTGQRVENYLISTANEF	YSSQVIYNLTGQQVENYLISTANEF	1.0	9.0	unscreened	-	4253_2:215835045-215835045 C>T_YSSQVIYNLTGQQVENYLISTANEF
7:150325766-150325766 C>T	0.0	4253	MELANOMA	-	-	-	-	GIMAP6	NM_001244072,p.G44R|uc022apv.1,p.G44R	protein_coding	uc022apv.1	nonsynonymous SNV	exon3	c.G130A	p.G44R	LALGENVQPHLQGCGPRMVAQRWFQ	LALGENVQPHLQRCGPRMVAQRWFQ	6.0	4.0	unscreened	-	4253_7:150325766-150325766 C>T_LALGENVQPHLQRCGPRMVAQRWFQ
2:137814683-137814683 C>T	0.0	4253	MELANOMA	-	-	-	-	THSD7B	ENST00000409968,p.T278I|ENST00000543459,p.T137I|uc002tva.1,p.T247I|ENST00000272643,p.T278I|uc002tvb.3,p.T137I|ENST00000413152,p.T247I	retained_intron, protein_coding, processed_transcript	uc002tvb.3	nonsynonymous SNV	exon1	c.C410T	p.T137I	VLDFNSDSNERVTFKHQSYKAHHHS	VLDFNSDSNERVIFKHQSYKAHHHS	2.0	3.0	unscreened	-	4253_2:137814683-137814683 C>T_VLDFNSDSNERVIFKHQSYKAHHHS
7:81335634-81335634 C>T	0.0	4253	MELANOMA	-	-	-	-	HGF	ENST00000457544,p.G571R|NM_000601,p.G576R|uc003uhm.3,p.G571R|NM_001010932,p.G571R|ENST00000222390,p.G576R|uc003uhl.3,p.G576R	retained_intron, protein_coding	uc003uhm.3	nonsynonymous SNV	exon15	c.G1711A	p.G571R	VLNVSQLVYGPEGSDLVLMKLARPA	VLNVSQLVYGPERSDLVLMKLARPA	6.0	4.0	unscreened	-	4253_7:81335634-81335634 C>T_VLNVSQLVYGPERSDLVLMKLARPA
6:76731900-76731900 G>A	0.0	4253	MELANOMA	-	-	-	-	IMPG1	NM_001282368,p.T122I|uc003pik.1,p.T200I|NM_001563,p.T200I|ENST00000369950,p.T200I	protein_coding	uc003pik.1	nonsynonymous SNV	exon6	c.C599T	p.T200I	DVANVSLGPFPLTPDDTLLNEILDN	DVANVSLGPFPLIPDDTLLNEILDN	1.0	9.0	unscreened	-	4253_6:76731900-76731900 G>A_DVANVSLGPFPLIPDDTLLNEILDN
5:94619798-94619798 G>A	0.0	4253	MELANOMA	-	-	-	-	MCTP1	NM_024717,p.S161F|uc003kkx.2,p.S161F|ENST00000515393,p.S161F	retained_intron, protein_coding, processed_transcript	uc003kkx.2	nonsynonymous SNV	exon1	c.C482T	p.S161F	GGRSPDSAPSSSSASSSLSSSPQPP	GGRSPDSAPSSSFASSSLSSSPQPP	5.0	5.0	unscreened	-	4253_5:94619798-94619798 G>A_GGRSPDSAPSSSFASSSLSSSPQPP
18:28584314-28584314 G>A	0.0	4253	MELANOMA	-	-	-	-	DSC3	ENST00000360428,p.S636L|uc002kwj.4,p.S636L|NM_024423,p.S636L|ENST00000434452,p.S636L|NM_001941,p.S636L|uc002kwi.4,p.S636L	protein_coding	uc002kwj.4	nonsynonymous SNV	exon13	c.C1907T	p.S636L	SLTKVNDTAARLSYQKNAGFQEYTI	SLTKVNDTAARLLYQKNAGFQEYTI	2.0	7.0	unscreened	-	4253_18:28584314-28584314 G>A_SLTKVNDTAARLLYQKNAGFQEYTI
18:44554910-44554910 C>T	0.0	4253	MELANOMA	-	-	-	-	TCEB3C,TCEB3CL	NM_145653,p.R435Q|uc010xdb.2,p.R435Q|ENST00000330682,p.R435Q|NM_001100817,p.R435Q	protein_coding	uc010xdb.2	nonsynonymous SNV	exon1	c.G1304A	p.R435Q	REQRLRVVTTKIRSARENKPSGRQT	REQRLRVVTTKIQSARENKPSGRQT	1.0	1.0	unscreened	-	4253_18:44554910-44554910 C>T_REQRLRVVTTKIQSARENKPSGRQT
12:45444346-45444346 G>A	0.0	4253	MELANOMA	-	-	-	-	DBX2	ENST00000332700,p.P122L|NM_001004329,p.P122L|uc001rok.1,p.P122L	protein_coding	uc001rok.1	nonsynonymous SNV	exon1	c.C365T	p.P122L	PSADSARLPGRAPGDRDCTFQPSAP	PSADSARLPGRALGDRDCTFQPSAP	1.0	2.0	unscreened	-	4253_12:45444346-45444346 G>A_PSADSARLPGRALGDRDCTFQPSAP
21:39772426-39772426 A>C	0.0	4253	MELANOMA	-	-	-	1	ERG	uc002yxc.4,p.L279R|NM_001291391,p.L279R	retained_intron, protein_coding, processed_transcript	uc002yxc.4	nonsynonymous SNV	exon8	c.T836G	p.L279R	ERHPRCPAEIRALSHVIQRELIPEL	ERHPRCPAEIRARSHVIQRELIPEL	5.0	8.0	unscreened	-	4253_21:39772426-39772426 A>C_ERHPRCPAEIRARSHVIQRELIPEL
5:79033551-79033551 C>T	0.0	4253	MELANOMA	-	-	-	-	CMYA5	uc003kgc.3,p.T2988I|NM_153610,p.T2988I|ENST00000446378,p.T2988I	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.C8963T	p.T2988I	KLEYLEEKASFKTIPLPDDSETVAC	KLEYLEEKASFKIIPLPDDSETVAC	5.0	5.0	unscreened	-	4253_5:79033551-79033551 C>T_KLEYLEEKASFKIIPLPDDSETVAC
2:179611763-179611763 C>T	0.0	4253	MELANOMA	-	-	-	-	TTN	uc002unb.3,p.G5122R|NM_133379,p.G5122R|ENST00000360870,p.G5122R	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.G15364A	p.G5122R	PGEALERYSIPTGGPNPTGTFKTYP	PGEALERYSIPTRGPNPTGTFKTYP	5.0	9.0	unscreened	-	4253_2:179611763-179611763 C>T_PGEALERYSIPTRGPNPTGTFKTYP
1:47398451-47398451 G>A	0.0	4253	MELANOMA	-	-	-	-	CYP4A11	ENST00000371904,p.P450L|ENST00000310638,p.P449L|uc001cqp.4,p.P449L|NM_000778,p.P449L	protein_coding, processed_transcript	uc001cqp.4	nonsynonymous SNV	exon11	c.C1346T	p.P449L	APGSAQHSHAFLPFSGGSRNCIGKQ	APGSAQHSHAFLLFSGGSRNCIGKQ	1.0	5.0	unscreened	-	4253_1:47398451-47398451 G>A_APGSAQHSHAFLLFSGGSRNCIGKQ
9:77473643-77473643 C>T	0.0	4253	MELANOMA	-	-	-	-	TRPM6	NM_001177310,p.G14R|ENST00000449912,p.G14R|uc022bib.1,p.G14R	protein_coding, processed_transcript	uc022bib.1	nonsynonymous SNV	exon2	c.G40A	p.G14R	IILSKSQKSWIKGVFDKRECSTIIP	IILSKSQKSWIKRVFDKRECSTIIP	3.0	10.0	unscreened	-	4253_9:77473643-77473643 C>T_IILSKSQKSWIKRVFDKRECSTIIP
9:77473643-77473643 C>T	0.0	4253	MELANOMA	-	-	-	-	TRPM6	NM_001177311,p.G14R|uc004ajk.1,p.G14R|ENST00000361255,p.G14R	protein_coding, processed_transcript	uc004ajk.1	nonsynonymous SNV	exon2	c.G40A	p.G14R	TAPVTSQKSWIKGVFDKRECSTIIP	TAPVTSQKSWIKRVFDKRECSTIIP	3.0	10.0	unscreened	-	4253_9:77473643-77473643 C>T_TAPVTSQKSWIKRVFDKRECSTIIP
9:77473643-77473643 C>T	0.0	4253	MELANOMA	-	-	-	-	TRPM6	ENST00000376871,p.G19R|uc010mpc.1,p.G19R|uc004ajn.1,p.G19R|ENST00000376872,p.G19R|ENST00000360774,p.G19R|ENST00000451710,p.G19R|ENST00000376864,p.G19R|ENST00000359047,p.G19R|uc010mpd.1,p.G19R|NM_017662,p.G19R|uc004ajl.1,p.G19R|uc010mpe.1,p.G19R	protein_coding, processed_transcript	uc010mpe.1	nonsynonymous SNV	exon2	c.G55A	p.G19R	LERLQSQKSWIKGVFDKRECSTIIP	LERLQSQKSWIKRVFDKRECSTIIP	3.0	10.0	unscreened	-	4253_9:77473643-77473643 C>T_LERLQSQKSWIKRVFDKRECSTIIP
X:53222406-53222406 C>T	1.0	4253	MELANOMA	-	-	-	1	KDM5C	uc004drz.3,p.E1476K|ENST00000404049,p.E1475K|NM_004187,p.E1476K|ENST00000375383,p.E1432K|ENST00000375401,p.E1476K|uc004dsa.3,p.E1475K|NM_001282622,p.E1475K|ENST00000375379,p.E1473K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004dsa.3	nonsynonymous SNV	exon26	c.G4423A	p.E1475K	DRGGEGDDPAREELEPKRVRSSGPE	DRGGEGDDPAREKLEPKRVRSSGPE	8.0	10.0	unscreened	-	4253_X:53222406-53222406 C>T_DRGGEGDDPAREKLEPKRVRSSGPE
17:11725332-11725332 G>A	0.0	4253	MELANOMA	-	-	-	-	DNAH9	uc010coo.3,p.E2229K|ENST00000454412,p.E2935K|NM_001372,p.E2935K|uc002gne.3,p.E2935K|ENST00000262442,p.E2935K	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon34	c.G6685A	p.E2229K	NEVKSQGLVDNRENCWKFFIDRIRR	NEVKSQGLVDNRKNCWKFFIDRIRR	7.0	5.0	unscreened	-	4253_17:11725332-11725332 G>A_NEVKSQGLVDNRKNCWKFFIDRIRR
10:64975111-64975111 G>C	1.0	4253	MELANOMA	-	-	-	-	JMJD1C	uc001jml.3,p.I90M|uc009xpi.3,p.I127M|uc001jmn.3,p.I309M|ENST00000399262,p.I309M|NM_001282948,p.I127M|uc001jmp.1,p.I21M|ENST00000402544,p.I90M|uc010qiq.2,p.I127M|NM_032776,p.I309M|ENST00000542921,p.I127M|ENST00000399251,p.I90M|uc001jmm.3,p.I21M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qiq.2	nonsynonymous SNV	exon6	c.C381G	p.I127M	KQNTHQQQQQRSIRPNKRKGSDSSI	KQNTHQQQQQRSMRPNKRKGSDSSI	10.0	9.0	unscreened	-	4253_10:64975111-64975111 G>C_KQNTHQQQQQRSMRPNKRKGSDSSI
10:21129747-21129747 A>T	1.0	4253	MELANOMA	-	-	-	-	NEBL	ENST00000377122,p.I420K|uc001iqi.3,p.I420K|NM_006393,p.I420K	retained_intron, protein_coding, processed_transcript	uc001iqi.3	nonsynonymous SNV	exon13	c.T1259A	p.I420K	REKEYKKDLENEIKGKGMELNSEVL	REKEYKKDLENEKKGKGMELNSEVL	5.0	10.0	unscreened	-	4253_10:21129747-21129747 A>T_REKEYKKDLENEKKGKGMELNSEVL
2:168103891-168103891 C>T	0.0	4253	MELANOMA	-	-	-	-	XIRP2	uc010fpq.3,p.L1775F|ENST00000409195,p.L1997F|uc002udx.3,p.L1997F|NM_001199144,p.L1775F|NM_152381,p.L1997F|ENST00000409273,p.L1775F|uc002udy.3,p.L1822F|ENST00000295237,p.L1997F	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C5323T	p.L1775F	EPAAKWQGGADTLSQTMGKSCHGNL	EPAAKWQGGADTFSQTMGKSCHGNL	2.0	1.0	unscreened	-	4253_2:168103891-168103891 C>T_EPAAKWQGGADTFSQTMGKSCHGNL
1:109265061-109265061 G>A	0.0	4253	MELANOMA	-	-	-	-	FNDC7	ENST00000370017,p.A235T|uc001dvx.3,p.A235T|NM_001144937,p.A235T|ENST00000271311,p.A236T	protein_coding	uc001dvx.3	nonsynonymous SNV	exon5	c.G703A	p.A235T	ARAEGAFNYTVMALSDSSELTCSTT	ARAEGAFNYTVMTLSDSSELTCSTT	2.0	4.0	unscreened	-	4253_1:109265061-109265061 G>A_ARAEGAFNYTVMTLSDSSELTCSTT
6:42071545-42071545 G>A	0.0	4253	MELANOMA	-	-	-	-	C6orf132	ENST00000341865,p.P1174L|NM_001164446,p.P1174L|uc003orw.2,p.P1174L	protein_coding	uc003orw.2	nonsynonymous SNV	exon5	c.C3521T	p.P1174L	INTFTVRPGTRHPISYVCSGAHRKA	INTFTVRPGTRHLISYVCSGAHRKA	4.0	3.0	unscreened	-	4253_6:42071545-42071545 G>A_INTFTVRPGTRHLISYVCSGAHRKA
6:132032067-132032067 T>C	0.0	4253	MELANOMA	-	-	-	-	CTAGE9	uc011ece.2,p.R31G|ENST00000314099,p.R31G|NM_001145659,p.R31G	protein_coding	uc011ece.2	nonsynonymous SNV	exon1	c.A91G	p.R31G	LGRVVAALPESMRPDENPYGFPSEL	LGRVVAALPESMGPDENPYGFPSEL	5.0	10.0	unscreened	-	4253_6:132032067-132032067 T>C_LGRVVAALPESMGPDENPYGFPSEL
18:28736079-28736079 T>A	0.0	4253	MELANOMA	-	-	-	-	DSC1	ENST00000257197,p.K133M|uc002kwm.3,p.K133M|NM_004948,p.K133M|NM_024421,p.K133M|uc002kwn.3,p.K133M|ENST00000257198,p.K133M	protein_coding	uc002kwn.3	nonsynonymous SNV	exon4	c.A398T	p.K133M	KRHTKDTALKRSKRRWAPIPASLME	KRHTKDTALKRSMRRWAPIPASLME	1.0	6.0	unscreened	-	4253_18:28736079-28736079 T>A_KRHTKDTALKRSMRRWAPIPASLME
7:87329760-87329760 G>A	0.0	4253	MELANOMA	-	-	-	-	RUNDC3B	uc003ujd.3,p.E10K	retained_intron, protein_coding, processed_transcript	uc003ujd.3	nonsynonymous SNV	exon2	c.G28A	p.E10K	MGQVTWFGYESPRSFWDYIRVA	MGQVTWFGYKSPRSFWDYIRVA	4.0	3.0	unscreened	-	4253_7:87329760-87329760 G>A_MGQVTWFGYKSPRSFWDYIRVA
7:87329760-87329760 G>A	0.0	4253	MELANOMA	-	-	-	-	RUNDC3B	NM_001134406,p.E88K|NM_001134405,p.E88K|uc011khd.1,p.E88K|ENST00000493037,p.E88K|uc003ujc.3,p.E88K|ENST00000394654,p.E88K|uc011khe.2,p.E88K	retained_intron, protein_coding, processed_transcript	uc011khe.2	nonsynonymous SNV	exon3	c.G262A	p.E88K	HRLKGQVTWFGYESPRSFWDYIRVA	HRLKGQVTWFGYKSPRSFWDYIRVA	4.0	3.0	unscreened	-	4253_7:87329760-87329760 G>A_HRLKGQVTWFGYKSPRSFWDYIRVA
7:87329760-87329760 G>A	0.0	4253	MELANOMA	-	-	-	-	RUNDC3B	uc003ujb.3,p.E105K|ENST00000338056,p.E105K|NM_138290,p.E105K	retained_intron, protein_coding, processed_transcript	uc003ujb.3	nonsynonymous SNV	exon4	c.G313A	p.E105K	IPLQGQVTWFGYESPRSFWDYIRVA	IPLQGQVTWFGYKSPRSFWDYIRVA	4.0	3.0	unscreened	-	4253_7:87329760-87329760 G>A_IPLQGQVTWFGYKSPRSFWDYIRVA
11:1262623-1262623 C>T	0.0	4253	MELANOMA	-	-	-	-	MUC5B	uc001lta.3,p.P1505S|ENST00000529681,p.P1505S|ENST00000447027,p.P1508S|NM_002458,p.P1505S	retained_intron, protein_coding, processed_transcript	uc001lta.3	nonsynonymous SNV	exon31	c.C4513T	p.P1505S	VTPSAPGTTTCQPRCQWTEWFDEDY	VTPSAPGTTTCQSRCQWTEWFDEDY	2.0	8.0	unscreened	-	4253_11:1262623-1262623 C>T_VTPSAPGTTTCQSRCQWTEWFDEDY
6:125397816-125397816 G>A	1.0	4253	MELANOMA	-	-	-	-	RNF217	NM_152553,p.R140Q|uc003pzr.3,p.R197Q|ENST00000275184,p.R76Q|ENST00000521654,p.R432Q|ENST00000359704,p.R140Q|NM_001286398,p.R432Q|ENST00000560949,p.R197Q|uc003pzs.3,p.R140Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pzs.3	nonsynonymous SNV	exon6	c.G419A	p.R140Q	AQKCPKCKIHIQRTEGCDHMTCSQC	AQKCPKCKIHIQQTEGCDHMTCSQC	6.0	10.0	unscreened	-	4253_6:125397816-125397816 G>A_AQKCPKCKIHIQQTEGCDHMTCSQC
11:58711032-58711032 G>A	0.0	4253	MELANOMA	-	-	-	-	GLYATL1	ENST00000530774,p.G14E|ENST00000527708,p.G14E|uc001nnh.2,p.G14E|NM_080661,p.G14E|ENST00000300079,p.G14E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nnh.2	nonsynonymous SNV	exon2	c.G41A	p.G14E	FKLCSNKMVSQEGSEVELLVSPGAR	FKLCSNKMVSQEESEVELLVSPGAR	2.0	3.0	unscreened	-	4253_11:58711032-58711032 G>A_FKLCSNKMVSQEESEVELLVSPGAR
7:31015433-31015433 G>A	0.0	4253	MELANOMA	-	-	-	-	GHRHR	ENST00000409316,p.E75K|uc003tbz.3,p.E75K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tbz.3	nonsynonymous SNV	exon7	c.G223A	p.E75K	LWAFSQYYPHPGEETGASSGQPPYP	LWAFSQYYPHPGKETGASSGQPPYP	1.0	9.0	unscreened	-	4253_7:31015433-31015433 G>A_LWAFSQYYPHPGKETGASSGQPPYP
2:228882640-228882640 C>T	0.0	4253	MELANOMA	-	-	ID=COSM241739,COSM241740;OCCURENCE=1(prostate)	-	SPHKAP	ENST00000392056,p.R977Q|ENST00000344657,p.R977Q|NM_001142644,p.R977Q|uc010zlx.1,p.R977Q|NM_030623,p.R977Q|uc002vpq.2,p.R977Q|uc002vpp.2,p.R977Q	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.G2930A	p.R977Q	GSEFLMTPNVPCRSLKRKKESQGSG	GSEFLMTPNVPCQSLKRKKESQGSG	1.0	8.0	unscreened	-	4253_2:228882640-228882640 C>T_GSEFLMTPNVPCQSLKRKKESQGSG
3:44943291-44943291 G>A	0.0	4253	MELANOMA	-	-	-	-	TGM4	uc003coc.4,p.R280K|NM_003241,p.R280K|ENST00000296125,p.R280K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003coc.4	nonsynonymous SNV	exon8	c.G839A	p.R280K	CWVFAGILTTVLRALGIPARSVTGF	CWVFAGILTTVLKALGIPARSVTGF	2.0	2.0	unscreened	-	4253_3:44943291-44943291 G>A_CWVFAGILTTVLKALGIPARSVTGF
6:12124019-12124019 G>A	0.0	4253	MELANOMA	-	-	-	-	HIVEP1	uc003nac.3,p.E1331K|NM_002114,p.E1331K|ENST00000379388,p.E1331K	protein_coding, nonsense_mediated_decay	uc003nac.3	nonsynonymous SNV	exon4	c.G3991A	p.E1331K	SASLDIEDVSKTEASPKIDFLNKAE	SASLDIEDVSKTKASPKIDFLNKAE	7.0	2.0	unscreened	-	4253_6:12124019-12124019 G>A_SASLDIEDVSKTKASPKIDFLNKAE
5:176827430-176827430 C>T	0.0	4253	MELANOMA	-	-	-	-	PFN3	NM_001029886,p.V50M|ENST00000358571,p.V50M|uc003mgl.2,p.V50M	protein_coding	uc003mgl.2	nonsynonymous SNV	exon1	c.G148A	p.V50M	GLLAAISPQEVGVLTGPDRHTFLQA	GLLAAISPQEVGMLTGPDRHTFLQA	1.0	1.0	unscreened	-	4253_5:176827430-176827430 C>T_GLLAAISPQEVGMLTGPDRHTFLQA
12:4554553-4554553 G>A	0.0	4253	MELANOMA	-	-	ID=COSM3812038;OCCURENCE=1(breast)	-	FGF6	ENST00000228837,p.R62C|uc001qmr.1,p.R62C|NM_020996,p.R62C	protein_coding, processed_transcript	uc001qmr.1	nonsynonymous SNV	exon1	c.C184T	p.R62C	DSRGWGTLLSRSRAGLAGEIAGVNW	DSRGWGTLLSRSCAGLAGEIAGVNW	3.0	3.0	unscreened	-	4253_12:4554553-4554553 G>A_DSRGWGTLLSRSCAGLAGEIAGVNW
6:44253887-44253887 C>T	0.0	4253	MELANOMA	-	-	-	-	TCTE1	uc003oxi.2,p.M220I|ENST00000371504,p.M67I|ENST00000371505,p.M220I|ENST00000371503,p.M67I|NM_182539,p.M220I	protein_coding	uc003oxi.2	nonsynonymous SNV	exon3	c.G660A	p.M220I	PGDQSDSGSEGEMEEPTVDHYQLGD	PGDQSDSGSEGEIEEPTVDHYQLGD	4.0	3.0	unscreened	-	4253_6:44253887-44253887 C>T_PGDQSDSGSEGEIEEPTVDHYQLGD
22:40367084-40367084 G>A	1.0	4253	MELANOMA	-	-	-	-	GRAP2	uc011aoq.2,p.R217Q|uc011aon.2,p.R264Q|uc010gya.2,p.R330Q|ENST00000544756,p.R258Q|uc003ayj.2,p.R330Q|uc011aoo.2,p.R258Q|uc003ayh.2,p.R330Q|NM_001291826,p.R258Q|NM_001291824,p.R330Q|NM_001291825,p.R330Q|uc011aop.2,p.R290Q|uc011aom.2,p.R304Q|ENST00000540310,p.R264Q|ENST00000344138,p.R330Q|NM_001291828,p.R217Q|NM_004810,p.R330Q|ENST00000407075,p.R330Q|ENST00000399090,p.R217Q|ENST00000543252,p.R278Q	retained_intron, protein_coding, processed_transcript	uc011aoq.2	nonsynonymous SNV	exon5	c.G650A	p.R217Q	GLFPANYVAPMTR	GLFPANYVAPMTQ	6.0	10.0	unscreened	-	4253_22:40367084-40367084 G>A_GLFPANYVAPMTQ
3:195507475-195507475 G>C	0.0	4253	MELANOMA	-	-	-	2	MUC4	ENST00000475231,p.T3659R|NM_018406,p.T3659R|ENST00000462323,p.T3659R|ENST00000479406,p.T3659R|ENST00000477756,p.T3659R|ENST00000477086,p.T3659R|ENST00000478156,p.T3659R|uc021xjp.1,p.T3659R|ENST00000466475,p.T3659R|ENST00000470451,p.T3659R|ENST00000463781,p.T3659R|ENST00000480843,p.T3659R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C10976G	p.T3659R	TPLLVTDASSVSTGHATPLPVTDTS	TPLLVTDASSVSRGHATPLPVTDTS	3.0	1.0	unscreened	-	4253_3:195507475-195507475 G>C_TPLLVTDASSVSRGHATPLPVTDTS
12:419090-419090 C>T	0.0	4253	MELANOMA	-	-	-	1	KDM5A	NM_001042603,p.G1086D|ENST00000382815,p.G1086D|uc001qif.1,p.G1086D|uc010sdn.1,p.G1045D|ENST00000399788,p.G1086D	retained_intron, protein_coding, processed_transcript	uc010sdn.1	nonsynonymous SNV	exon21	c.G3134A	p.G1045D	LSPRTDIGVYGSGKNRRKKVKELIE	LSPRTDIGVYGSDKNRRKKVKELIE	10.0	1.0	unscreened	-	4253_12:419090-419090 C>T_LSPRTDIGVYGSDKNRRKKVKELIE
16:20702413-20702413 G>A	0.0	4253	MELANOMA	-	-	-	-	ACSM1	ENST00000523065,p.S33L|NM_052956,p.S33L|uc002dhm.1,p.S33L|ENST00000519745,p.S33L|ENST00000307493,p.S33L|uc010bwg.1,p.S33L|ENST00000520010,p.S33L	retained_intron, protein_coding, nonsense_mediated_decay	uc010bwg.1	nonsynonymous SNV	exon2	c.C98T	p.S33L	HPAPSQLRCRSLSEFGAPRWNDYEV	HPAPSQLRCRSLLEFGAPRWNDYEV	2.0	6.0	unscreened	-	4253_16:20702413-20702413 G>A_HPAPSQLRCRSLLEFGAPRWNDYEV
5:140558546-140558546 G>A	0.0	4253	MELANOMA	-	-	ID=COSM107283;OCCURENCE=2(skin)	-	PCDHB8	ENST00000239444,p.E311K|NM_019120,p.E311K|uc011dai.2,p.E311K	protein_coding	uc011dai.2	nonsynonymous SNV	exon1	c.G931A	p.E311K	TGEIRLKKQLDFEKFQSYEVNIEAR	TGEIRLKKQLDFKKFQSYEVNIEAR	3.0	1.0	unscreened	-	4253_5:140558546-140558546 G>A_TGEIRLKKQLDFKKFQSYEVNIEAR
6:30994257-30994257 C>T	0.0	4253	MELANOMA	-	-	-	-	MUC22	ENST00000561890,p.S350F|uc021yug.1,p.S350F|NM_001198815,p.S350F|uc021yuh.1,p.S353F	protein_coding	uc021yuh.1	nonsynonymous SNV	exon3	c.C1058T	p.S353F	TTASMAGSETTVSTAGSETTTVSIT	TTASMAGSETTVFTAGSETTTVSIT	1.0	2.0	unscreened	-	4253_6:30994257-30994257 C>T_TTASMAGSETTVFTAGSETTTVSIT
19:9073638-9073638 C>T	0.0	4253	MELANOMA	-	-	ID=COSM75489,COSM75488,COSM715242;OCCURENCE=1(ovary),1(lung),1(haematopoietic_and_lymphoid_tissue)	2	MUC16	NM_024690,p.R4603Q|ENST00000397910,p.R4603Q|uc002mkp.3,p.R4603Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G13808A	p.R4603Q	IEGEPTSSLTAGRKENSTLQEMNST	IEGEPTSSLTAGQKENSTLQEMNST	2.0	10.0	unscreened	-	4253_19:9073638-9073638 C>T_IEGEPTSSLTAGQKENSTLQEMNST
2:21225528-21225528 C>T	0.0	4253	MELANOMA	0.0018	-	-	-	APOB	NM_000384,p.E4256K|ENST00000233242,p.E4256K|uc002red.3,p.E4256K	protein_coding	uc002red.3	nonsynonymous SNV	exon29	c.G12766A	p.E4256K	SYFQDLVITLPFELRKHKLIDVISM	SYFQDLVITLPFKLRKHKLIDVISM	1.0	2.0	unscreened	-	4253_2:21225528-21225528 C>T_SYFQDLVITLPFKLRKHKLIDVISM
19:22497109-22497109 G>A	0.0	4253	MELANOMA	-	-	-	-	ZNF729	ENST00000601693,p.C297Y|uc021urs.1,p.C297Y|NM_001242680,p.C297Y|ENST00000357491,p.C297Y	protein_coding	uc021urs.1	nonsynonymous SNV	exon4	c.G890A	p.C297Y	IHTGEKTYKCEECGKAFKGSSNFNA	IHTGEKTYKCEEYGKAFKGSSNFNA	2.0	2.0	unscreened	-	4253_19:22497109-22497109 G>A_IHTGEKTYKCEEYGKAFKGSSNFNA
2:179170964-179170964 C>T	0.0	4253	MELANOMA	-	-	-	-	OSBPL6	NM_001201480,p.T18I|uc002ulw.3,p.T18I|NM_032523,p.T18I|NM_001201482,p.T18I|uc002ulz.3,p.T18I|ENST00000409045,p.T18I|ENST00000359685,p.T18I|ENST00000190611,p.T18I|NM_001201481,p.T18I|ENST00000357080,p.T18I|uc002ulx.3,p.T18I|uc010zfe.2,p.T18I|uc002uly.3,p.T18I|ENST00000409631,p.T18I|ENST00000392505,p.T18I	protein_coding, processed_transcript	uc010zfe.2	nonsynonymous SNV	exon3	c.C53T	p.T18I	KGISPAHKTSTPTHRSASSSTSSQR	KGISPAHKTSTPIHRSASSSTSSQR	6.0	7.0	unscreened	-	4253_2:179170964-179170964 C>T_KGISPAHKTSTPIHRSASSSTSSQR
1:181745288-181745288 C>T	0.0	4253	MELANOMA	-	-	ID=COSM208782;OCCURENCE=1(large_intestine)	-	CACNA1E	NM_001205293,p.R1731W|ENST00000357570,p.R1682W|NM_000721,p.R1731W|ENST00000367570,p.R1731W|NM_001205294,p.R1712W|uc009wxt.3,p.R1731W|ENST00000358338,p.R1663W|uc009wxs.3,p.R1712W|ENST00000367573,p.R1731W|ENST00000360108,p.R1712W|uc001gow.3,p.R1731W|ENST00000526775,p.R1712W|uc001gox.1,p.R957W|ENST00000367567,p.R1338W	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon38	c.C5191T	p.R1731W	VAVIMDNFEYLTRDSSILGPHHLDE	VAVIMDNFEYLTWDSSILGPHHLDE	1.0	3.0	unscreened	-	4253_1:181745288-181745288 C>T_VAVIMDNFEYLTWDSSILGPHHLDE
7:86416228-86416228 G>A	1.0	4253	MELANOMA	-	-	-	2	GRM3	uc010lef.3,p.D372N|ENST00000439827,p.D374N|ENST00000394720,p.D372N|ENST00000536043,p.D246N|uc010leg.3,p.D246N|ENST00000361669,p.D374N|uc003uid.3,p.D374N|NM_000840,p.D374N	protein_coding	uc010leg.3	nonsynonymous SNV	exon2	c.G736A	p.D246N	SLQNKRNHRRVCDKHLAIDSSNYEQ	SLQNKRNHRRVCNKHLAIDSSNYEQ	1.0	3.0	unscreened	-	4253_7:86416228-86416228 G>A_SLQNKRNHRRVCNKHLAIDSSNYEQ
12:101560457-101560457 C>A	0.0	4253	MELANOMA	-	-	-	-	SLC5A8	ENST00000536262,p.M447I|NM_145913,p.M447I|uc001thz.4,p.M447I	protein_coding	uc001thz.4	nonsynonymous SNV	exon12	c.G1341T	p.M447I	PFANSIGALVGLMAGFAISLWVGIG	PFANSIGALVGLIAGFAISLWVGIG	1.0	5.0	unscreened	-	4253_12:101560457-101560457 C>A_PFANSIGALVGLIAGFAISLWVGIG
12:41966502-41966502 G>A	0.0	4253	MELANOMA	-	-	-	-	PDZRN4	NM_001164595,p.G641R|uc009zjz.3,p.G381R|ENST00000539469,p.G383R|ENST00000298919,p.G381R|uc001rmr.3,p.G268R|ENST00000402685,p.G641R|NM_013377,p.G383R|uc010skn.2,p.G641R|uc001rmq.4,p.G383R	retained_intron, protein_coding	uc010skn.2	nonsynonymous SNV	exon10	c.G1921A	p.G641R	QLLELKCKIRNHGEYDLYYSSSTIE	QLLELKCKIRNHREYDLYYSSSTIE	3.0	9.0	unscreened	-	4253_12:41966502-41966502 G>A_QLLELKCKIRNHREYDLYYSSSTIE
5:145428751-145428751 C>T	0.0	4253	MELANOMA	-	-	-	-	SH3RF2	ENST00000511217,p.S422F|uc011dbl.1,p.S422F|ENST00000359120,p.S422F|NM_152550,p.S422F|uc003lnt.3,p.S422F	retained_intron, protein_coding, processed_transcript	uc011dbl.1	nonsynonymous SNV	exon6	c.C1265T	p.S422F	LGKCQDGWLRGVSLVTGRVGIFPNN	LGKCQDGWLRGVFLVTGRVGIFPNN	4.0	5.0	unscreened	-	4253_5:145428751-145428751 C>T_LGKCQDGWLRGVFLVTGRVGIFPNN
1:248637593-248637593 G>A	0.0	4253	MELANOMA	-	-	-	-	OR2T3	NM_001005495,p.M314I|uc001iel.1,p.M314I|ENST00000359594,p.M314I	protein_coding	uc001iel.1	nonsynonymous SNV	exon1	c.G942A	p.M314I	VTRALRSMMQSRMNQEK	VTRALRSMMQSRINQEK	1.0	1.0	unscreened	-	4253_1:248637593-248637593 G>A_VTRALRSMMQSRINQEK
9:90502641-90502641 C>T	0.0	4253	MELANOMA	-	-	-	-	SPATA31E1	NM_178828,p.S1080L|ENST00000325643,p.S1080L|uc004app.4,p.S1080L	protein_coding	uc004app.4	nonsynonymous SNV	exon4	c.C3239T	p.S1080L	GALGTTGNPSASSVCVAQDPEQLHL	GALGTTGNPSASLVCVAQDPEQLHL	1.0	10.0	unscreened	-	4253_9:90502641-90502641 C>T_GALGTTGNPSASLVCVAQDPEQLHL
12:85450831-85450831 G>A	0.0	4253	MELANOMA	-	-	-	-	LRRIQ1	NM_001079910,p.E754K|ENST00000393217,p.E754K|uc001taa.1,p.E729K|uc001tac.3,p.E754K|uc021rbo.1,p.E632K	retained_intron, protein_coding, nonsense_mediated_decay	uc021rbo.1	nonsynonymous SNV	exon4	c.G1894A	p.E632K	RLAWIKSFKPWLEIFKQNQQKKIVR	RLAWIKSFKPWLKIFKQNQQKKIVR	7.0	6.0	unscreened	-	4253_12:85450831-85450831 G>A_RLAWIKSFKPWLKIFKQNQQKKIVR
1:152188496-152188496 C>T	0.0	4253	MELANOMA	-	-	-	-	HRNR	NM_001009931,p.G1870E|ENST00000368801,p.G1870E|uc001ezt.2,p.G1870E	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G5609A	p.G1870E	SGRHGSGSGQSSGFGHHESSSWQSS	SGRHGSGSGQSSEFGHHESSSWQSS	1.0	1.0	unscreened	-	4253_1:152188496-152188496 C>T_SGRHGSGSGQSSEFGHHESSSWQSS
16:814069-814069 G>C	0.0	4253	MELANOMA	-	-	-	-	MSLN	uc002cju.1,p.G76R|uc002cjw.2,p.G76R|ENST00000563651,p.G76R|NM_013404,p.G76R|ENST00000563941,p.G76R|ENST00000545450,p.G76R|ENST00000382862,p.G76R|NM_005823,p.G76R|ENST00000569566,p.G76R|uc002cjt.1,p.G76R|ENST00000566549,p.G76R|NM_001177355,p.G76R|uc010brd.1,p.G75R	protein_coding	uc010brd.1	nonsynonymous SNV	exon5	c.G223C	p.G75R	RQLLGFPCAEVSGLSTERVRELAVA	RQLLGFPCAEVSRLSTERVRELAVA	5.0	4.0	unscreened	-	4253_16:814069-814069 G>C_RQLLGFPCAEVSRLSTERVRELAVA
9:38596115-38596115 C>T	0.0	4253	MELANOMA	-	-	-	-	ANKRD18A	ENST00000399703,p.E408K|uc004abf.1,p.E85K|uc010mme.3,p.E407K|NM_147195,p.E408K|uc004abg.4,p.E408K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010mme.3	nonsynonymous SNV	exon9	c.G1219A	p.E407K	AENARLNSELEKEKHNKERLEAEVE	AENARLNSELEKKKHNKERLEAEVE	8.0	10.0	unscreened	-	4253_9:38596115-38596115 C>T_AENARLNSELEKKKHNKERLEAEVE
14:103395256-103395256 G>A	0.0	4253	MELANOMA	-	-	-	-	AMN	uc001ymg.4,p.G153R|uc001ymh.4,p.G99R|ENST00000299155,p.G153R|NM_030943,p.G153R	retained_intron, protein_coding	uc001ymh.4	nonsynonymous SNV	exon4	c.G295A	p.G99R	DVFFPPSASFRVGLGPGASPVRVRS	DVFFPPSASFRVRLGPGASPVRVRS	4.0	8.0	unscreened	-	4253_14:103395256-103395256 G>A_DVFFPPSASFRVRLGPGASPVRVRS
3:38938416-38938416 C>T	0.0	4253	MELANOMA	-	-	-	-	SCN11A	uc021wvy.1,p.E775K|ENST00000444237,p.E775K|ENST00000302328,p.E775K|NM_001287223,p.E775K|ENST00000456224,p.E775K|NM_014139,p.E775K|ENST00000450244,p.E775K	protein_coding	uc021wvy.1	nonsynonymous SNV	exon14	c.G2323A	p.E775K	RILCGEWIENMWECMQEANASSSLC	RILCGEWIENMWKCMQEANASSSLC	3.0	1.0	unscreened	-	4253_3:38938416-38938416 C>T_RILCGEWIENMWKCMQEANASSSLC
3:39374841-39374841 C>T	0.0	4253	MELANOMA	-	-	-	-	CCR8	uc003cjm.2,p.S257F|uc021wwe.1,p.S340F|uc010hhr.2,p.S340F|ENST00000326306,p.S340F|ENST00000545843,p.S257F|NM_005201,p.S340F	protein_coding	uc021wwe.1	nonsynonymous SNV	exon1	c.C1019T	p.S340F	RQMPRESCEKSSSCQQHSSRSSSVD	RQMPRESCEKSSFCQQHSSRSSSVD	3.0	1.0	unscreened	-	4253_3:39374841-39374841 C>T_RQMPRESCEKSSFCQQHSSRSSSVD
7:121653110-121653110 T>C	0.0	4253	MELANOMA	-	-	-	-	PTPRZ1	ENST00000393386,p.L1337S|NM_002851,p.L1337S|uc003vjy.3,p.L1337S	retained_intron, protein_coding, processed_transcript	uc003vjy.3	nonsynonymous SNV	exon12	c.T4010C	p.L1337S	TLINKLIHSDEILTSTKSSVTGKVF	TLINKLIHSDEISTSTKSSVTGKVF	9.0	4.0	unscreened	-	4253_7:121653110-121653110 T>C_TLINKLIHSDEISTSTKSSVTGKVF
14:71209302-71209302 G>A	0.0	4253	MELANOMA	-	-	-	-	MAP3K9	uc001xml.3,p.R445C|NM_001284230,p.R445C|NM_001284232,p.R139C|ENST00000553414,p.R139C|ENST00000381250,p.R445C|NM_033141,p.R445C|uc001xmk.3,p.R139C|ENST00000554146,p.R182C|NM_001284231,p.R182C|ENST00000555993,p.R445C|uc001xmm.3,p.R445C|uc010ttk.2,p.R182C|ENST00000554752,p.R445C	retained_intron, protein_coding	uc010ttk.2	nonsynonymous SNV	exon6	c.C544T	p.R182C	MFDQLRAKEKELRTWEEELTRAALQ	MFDQLRAKEKELCTWEEELTRAALQ	5.0	1.0	unscreened	-	4253_14:71209302-71209302 G>A_MFDQLRAKEKELCTWEEELTRAALQ
13:29599154-29599154 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1513825;OCCURENCE=1(upper_aerodigestive_tract),1(lung)	-	MTUS2	uc001usl.4,p.E117K|NM_001033602,p.E117K|ENST00000431530,p.E117K	retained_intron, protein_coding, processed_transcript	uc001usl.4	nonsynonymous SNV	exon1	c.G349A	p.E117K	LKDFRLSSTIQRELNEEHTVERGTD	LKDFRLSSTIQRKLNEEHTVERGTD	1.0	4.0	unscreened	-	4253_13:29599154-29599154 G>A_LKDFRLSSTIQRKLNEEHTVERGTD
12:8375200-8375200 C>T	0.0	4253	MELANOMA	-	-	-	-	FAM90A1	uc001quh.2,p.G205R|NM_018088,p.G205R|ENST00000538603,p.G205R|uc001qui.2,p.G205R|ENST00000307435,p.G205R	protein_coding	uc001qui.2	nonsynonymous SNV	exon7	c.G613A	p.G205R	SSSSLGPKERQTGAAADIPQTAVRH	SSSSLGPKERQTRAAADIPQTAVRH	3.0	1.0	unscreened	-	4253_12:8375200-8375200 C>T_SSSSLGPKERQTRAAADIPQTAVRH
X:20029094-20029094 C>T	0.0	4253	MELANOMA	-	-	-	-	MAP7D2	NM_152780,p.D676N|uc010nfo.2,p.D717N|ENST00000379643,p.D717N|NM_001168467,p.D624N|uc004czq.2,p.D561N|uc011mjj.2,p.D631N|NM_001168466,p.D631N|ENST00000452324,p.D624N|uc004czr.2,p.D676N|ENST00000543767,p.D561N|NM_001168465,p.D717N|ENST00000379651,p.D676N|uc011mji.2,p.D624N|ENST00000443379,p.D631N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mjj.2	nonsynonymous SNV	exon14	c.G1891A	p.D631N	SPVSEMIPGVSLDQNGTGNARALQD	SPVSEMIPGVSLNQNGTGNARALQD	4.0	10.0	unscreened	-	4253_X:20029094-20029094 C>T_SPVSEMIPGVSLNQNGTGNARALQD
1:247150546-247150546 G>T	0.0	4253	MELANOMA	-	-	-	-	ZNF695	ENST00000339986,p.T424N|NM_020394,p.T424N|uc009xgu.3,p.T424N	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xgu.3	nonsynonymous SNV	exon4	c.C1271A	p.T424N	ECGKAFTWFSYLTQHKRIHTGEKPY	ECGKAFTWFSYLNQHKRIHTGEKPY	5.0	1.0	unscreened	-	4253_1:247150546-247150546 G>T_ECGKAFTWFSYLNQHKRIHTGEKPY
9:137642675-137642675 C>T	1.0	4253	MELANOMA	-	-	-	-	COL5A1	ENST00000371817,p.P537S|uc004cfe.4,p.P537S|NM_000093,p.P537S|NM_001278074,p.P537S|uc031tfl.1,p.P537S	retained_intron, protein_coding, processed_transcript	uc031tfl.1	nonsynonymous SNV	exon13	c.C1609T	p.P537S	RFGGGGDAGSKGPMVSAQESQAQAI	RFGGGGDAGSKGSMVSAQESQAQAI	9.0	10.0	unscreened	-	4253_9:137642675-137642675 C>T_RFGGGGDAGSKGSMVSAQESQAQAI
7:130007750-130007750 G>A	0.0	4253	MELANOMA	-	-	ID=COSM137950;OCCURENCE=1(skin),1(endometrium)	-	CPA5	NM_080385,p.D348N|ENST00000355388,p.D348N|NM_001127441,p.D348N|uc003vpu.1,p.D348N|ENST00000485477,p.D348N|uc010lmd.1,p.D348N|ENST00000466363,p.D348N|ENST00000461828,p.D348N|uc010lme.1,p.D348N|ENST00000474905,p.D348N|uc003vps.2,p.D348N|ENST00000393213,p.D348N	retained_intron, protein_coding	uc010lme.1	nonsynonymous SNV	exon11	c.G1042A	p.D348N	LLEPVSNQRELYDLAKDAVEALYKV	LLEPVSNQRELYNLAKDAVEALYKV	3.0	6.0	unscreened	-	4253_7:130007750-130007750 G>A_LLEPVSNQRELYNLAKDAVEALYKV
9:113547266-113547266 G>A	1.0	4253	MELANOMA	-	-	ID=COSM124579;OCCURENCE=1(upper_aerodigestive_tract)	-	MUSK	NM_001166281,p.R423Q|ENST00000189978,p.R519Q|ENST00000374448,p.R519Q|NM_005592,p.R519Q|uc022blv.1,p.R519Q|NM_001166280,p.R433Q|ENST00000416899,p.R511Q	protein_coding	uc022blv.1	nonsynonymous SNV	exon12	c.G1556A	p.R519Q	FVLLTITTLYCCRRRKQWKNKKRES	FVLLTITTLYCCQRRKQWKNKKRES	6.0	10.0	unscreened	-	4253_9:113547266-113547266 G>A_FVLLTITTLYCCQRRKQWKNKKRES
11:40136731-40136731 G>A	0.0	4253	MELANOMA	-	-	-	-	LRRC4C	ENST00000528697,p.A371V|ENST00000530763,p.A371V|uc031pzt.1,p.A371V|ENST00000527150,p.A371V|uc021qgf.1,p.A371V|NM_020929,p.A371V|NM_001258419,p.A371V|ENST00000278198,p.A371V|uc031pzu.1,p.A371V|uc031pzs.1,p.A367V|uc001mxb.2,p.A367V	protein_coding, processed_transcript	uc031pzu.1	nonsynonymous SNV	exon5	c.C1112T	p.A371V	PPADLNVTEGMAAELKCRASTSLTS	PPADLNVTEGMAVELKCRASTSLTS	3.0	9.0	unscreened	-	4253_11:40136731-40136731 G>A_PPADLNVTEGMAVELKCRASTSLTS
1:39500140-39500140 A>C	1.0	4253	MELANOMA	0.0005	-	-	-	NDUFS5	uc001ccx.3,p.H98P|ENST00000372969,p.H98P|ENST00000372967,p.H98P|uc001ccy.3,p.H98P|NM_001184979,p.H98P|NM_004552,p.H98P	protein_coding	uc001ccy.3	nonsynonymous SNV	exon3	c.A293C	p.H98P	LIKEGKYTPPPHHIGKGEPRP	LIKEGKYTPPPHPIGKGEPRP	10.0	4.0	unscreened	-	4253_1:39500140-39500140 A>C_LIKEGKYTPPPHPIGKGEPRP
5:60050591-60050591 G>A	0.0	4253	MELANOMA	-	-	-	-	ELOVL7	ENST00000438340,p.P236S|uc011cqo.2,p.P149S|NM_001297618,p.P149S|NM_001297617,p.P223S|uc003jsj.4,p.P223S|ENST00000505959,p.P223S|uc010iwk.3,p.P236S|NM_024930,p.P236S|NM_001104558,p.P236S|ENST00000508821,p.P236S|ENST00000425382,p.P236S|uc003jsi.4,p.P236S	protein_coding, nonsense_mediated_decay	uc011cqo.2	nonsynonymous SNV	exon8	c.C445T	p.P149S	QFFFMEDCKYQFPVFACIIMSYSFM	QFFFMEDCKYQFSVFACIIMSYSFM	4.0	5.0	unscreened	-	4253_5:60050591-60050591 G>A_QFFFMEDCKYQFSVFACIIMSYSFM
20:56098213-56098213 G>A	0.0	4253	MELANOMA	-	-	-	-	CTCFL	uc010gjd.1,p.S222L|NM_001269047,p.S222L|NM_001269048,p.S222L|NM_001269042,p.S222L|uc010gje.3,p.S222L|ENST00000429804,p.S222L|uc031ruh.1,p.S222L|NM_001269043,p.S222L|ENST00000423479,p.S222L|NM_080618,p.S222L|ENST00000371196,p.S222L|NM_001269051,p.S222L|uc010gja.2,p.S222L|NM_001269049,p.S17L|uc021wfe.1,p.S222L|ENST00000539382,p.S17L|uc010gjj.2,p.S222L|uc010gji.2,p.S17L|NM_001269050,p.S17L|NM_001269052,p.S222L|ENST00000422109,p.S222L|uc010gjc.1,p.S222L|uc010gjk.2,p.S222L|uc031ruj.1,p.S222L|ENST00000426658,p.S222L|NM_001269040,p.S222L|ENST00000433949,p.S222L|uc010gjl.2,p.S222L|ENST00000432255,p.S222L|ENST00000243914,p.S222L|NM_001269045,p.S222L|NM_001269044,p.S222L|ENST00000422869,p.S222L|NM_001269046,p.S222L|uc010gjf.3,p.S17L|NM_001269041,p.S222L|uc010gix.1,p.S222L|uc010gjh.2,p.S222L|uc010giw.1,p.S222L|uc010gjb.2,p.S222L	protein_coding, processed_transcript	uc031ruj.1	nonsynonymous SNV	exon3	c.C665T	p.S222L	ERSDEIVLTVSNSNVEEQEDQPTAG	ERSDEIVLTVSNLNVEEQEDQPTAG	4.0	4.0	unscreened	-	4253_20:56098213-56098213 G>A_ERSDEIVLTVSNLNVEEQEDQPTAG
13:70314644-70314644 C>T	0.0	4253	MELANOMA	-	-	-	-	KLHL1	uc001vip.3,p.D562N|NM_001286725,p.D501N|uc010thm.2,p.D501N|ENST00000545028,p.D369N|NM_020866,p.D562N|ENST00000377844,p.D562N	protein_coding	uc010thm.2	nonsynonymous SNV	exon7	c.G1501A	p.D501N	VLEGPIYAVGGHDGWSYLNTVERWD	VLEGPIYAVGGHNGWSYLNTVERWD	1.0	2.0	unscreened	-	4253_13:70314644-70314644 C>T_VLEGPIYAVGGHNGWSYLNTVERWD
1:172001604-172001604 G>A	0.0	4253	MELANOMA	-	-	-	-	DNM3	ENST00000367733,p.D218N|ENST00000367731,p.D218N|ENST00000358155,p.D218N|NM_015569,p.D218N|ENST00000523513,p.D108N|NM_001136127,p.D218N|uc001gif.4,p.D218N|uc001gid.5,p.D218N|ENST00000355305,p.D218N|ENST00000520906,p.D218N|uc009wwb.3,p.D218N|NM_001278252,p.D218N|uc001gie.4,p.D218N	retained_intron, protein_coding	uc009wwb.3	nonsynonymous SNV	exon5	c.G652A	p.D218N	KLDLMDEGTDARDVLENKLLPLRRG	KLDLMDEGTDARNVLENKLLPLRRG	5.0	9.0	unscreened	-	4253_1:172001604-172001604 G>A_KLDLMDEGTDARNVLENKLLPLRRG
5:112179284-112179284 C>T	1.0	4253	MELANOMA	-	-	-	1	APC	uc011cvt.2,p.P2647S|NM_001127511,p.P2647S|uc010jbz.3,p.P2382S|NM_001127510,p.P2665S|ENST00000508376,p.P2665S|ENST00000457016,p.P2665S|uc003kpy.4,p.P2665S|uc003kpz.4,p.P2665S|NM_000038,p.P2665S|uc010jca.3,p.P1965S|ENST00000257430,p.P2665S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	nonsynonymous SNV	exon14	c.C7939T	p.P2647S	KTEDVWVRIEDCPINNPRSGRSPTG	KTEDVWVRIEDCSINNPRSGRSPTG	6.0	6.0	unscreened	-	4253_5:112179284-112179284 C>T_KTEDVWVRIEDCSINNPRSGRSPTG
1:215990352-215990352 G>A	0.0	4253	MELANOMA	-	-	-	-	USH2A	ENST00000366943,p.S3186F|ENST00000307340,p.S3186F|NM_206933,p.S3186F|uc001hku.1,p.S3186F	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon48	c.C9557T	p.S3186F	QKPESICGHICYSSEAKVCCNGVLY	QKPESICGHICYFSEAKVCCNGVLY	1.0	2.0	unscreened	-	4253_1:215990352-215990352 G>A_QKPESICGHICYFSEAKVCCNGVLY
14:31354716-31354716 G>A	0.0	4253	MELANOMA	-	-	-	-	COCH	ENST00000460581,p.E172K|ENST00000475087,p.E284K|NM_004086,p.E284K|ENST00000216361,p.E284K|uc001wqp.2,p.E284K|uc001wqt.1,p.E135K|NM_001135058,p.E284K|ENST00000555881,p.E166K|ENST00000382493,p.E135K|ENST00000396618,p.E284K|uc001wqr.2,p.E284K|uc001wqq.4,p.E284K	retained_intron, protein_coding, nonsense_mediated_decay	uc001wqt.1	nonsynonymous SNV	exon5	c.G403A	p.E135K	VFIDGWPSDDIEEAGIVAREFGVNV	VFIDGWPSDDIEKAGIVAREFGVNV	3.0	1.0	unscreened	-	4253_14:31354716-31354716 G>A_VFIDGWPSDDIEKAGIVAREFGVNV
7:82390075-82390075 C>T	0.0	4253	MELANOMA	-	-	-	-	PCLO	ENST00000333891,p.M5056I|uc003uhx.2,p.M5056I|NM_033026,p.M5056I	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon24	c.G15168A	p.M5056I	DHLPDLYVKIYVMNISTQKKVIKKK	DHLPDLYVKIYVINISTQKKVIKKK	7.0	6.0	unscreened	-	4253_7:82390075-82390075 C>T_DHLPDLYVKIYVINISTQKKVIKKK
6:7373470-7373470 T>C	0.0	4253	MELANOMA	-	-	-	-	CAGE1	uc003mxj.3,p.T283A|ENST00000379918,p.T528A|ENST00000512691,p.T540A|NM_001170692,p.T528A|NM_001170693,p.T528A|ENST00000458291,p.T528A|ENST00000512086,p.T528A|uc003mxk.2,p.T528A|NM_205864,p.T392A|ENST00000502583,p.T528A|ENST00000338150,p.T528A|ENST00000296742,p.T392A|uc021ylc.1,p.T392A|uc003mxl.2,p.T528A	protein_coding, processed_transcript, nonsense_mediated_decay	uc021ylc.1	nonsynonymous SNV	exon4	c.A1174G	p.T392A	VRNLQFMSENERTKNIKLQQQINEV	VRNLQFMSENERAKNIKLQQQINEV	1.0	9.0	unscreened	-	4253_6:7373470-7373470 T>C_VRNLQFMSENERAKNIKLQQQINEV
14:51338950-51338950 C>T	0.0	4253	MELANOMA	-	-	-	-	ABHD12B	uc001wyr.3,p.R20C|NM_181814,p.R20C|ENST00000382029,p.R20C|ENST00000557345,p.R20C|ENST00000353130,p.R20C|ENST00000337334,p.R20C|uc001wys.3,p.R20C|NM_001206673,p.R20C	protein_coding, processed_transcript, nonsense_mediated_decay	uc001wys.3	nonsynonymous SNV	exon1	c.C58T	p.R20C	AAASPEPPGPPARSCVAAWWDMVDR	AAASPEPPGPPACSCVAAWWDMVDR	2.0	9.0	unscreened	-	4253_14:51338950-51338950 C>T_AAASPEPPGPPACSCVAAWWDMVDR
17:79411513-79411513 C>T	0.0	4253	MELANOMA	-	-	-	-	BAHCC1	ENST00000307745,p.P811S	retained_intron, protein_coding, processed_transcript	ENST00000307745	nonsynonymous SNV	exon11	c.C2431T	p.P811S	HLMMQSGQLGGDPAPHTHPHPPWLP	HLMMQSGQLGGDSAPHTHPHPPWLP	6.0	3.0	unscreened	-	4253_17:79411513-79411513 C>T_HLMMQSGQLGGDSAPHTHPHPPWLP
12:8375199-8375199 C>T	0.0	4253	MELANOMA	-	-	-	-	FAM90A1	uc001quh.2,p.G205E|ENST00000538603,p.G205E|uc001qui.2,p.G205E|ENST00000307435,p.G205E|NM_018088,p.G205E	protein_coding	uc001qui.2	nonsynonymous SNV	exon7	c.G614A	p.G205E	SSSSLGPKERQTGAAADIPQTAVRH	SSSSLGPKERQTEAAADIPQTAVRH	3.0	1.0	unscreened	-	4253_12:8375199-8375199 C>T_SSSSLGPKERQTEAAADIPQTAVRH
1:207790112-207790112 G>A	0.0	4253	MELANOMA	-	-	-	-	CR1	ENST00000367049,p.S2285N|ENST00000400960,p.S1835N|uc001hfx.3,p.S2285N|uc021pij.1,p.S1835N|NM_000573,p.S1835N|NM_000651,p.S2285N|ENST00000367051,p.S1835N|uc001hfy.3,p.S1835N|ENST00000367052,p.S1835N|ENST00000367053,p.S1835N	retained_intron, protein_coding, processed_transcript	uc021pij.1	nonsynonymous SNV	exon33	c.G5504A	p.S1835N	CTSDPQGNGVWSSPAPRCELSVPAA	CTSDPQGNGVWSNPAPRCELSVPAA	5.0	8.0	unscreened	-	4253_1:207790112-207790112 G>A_CTSDPQGNGVWSNPAPRCELSVPAA
12:25243091-25243091 A>G	0.0	4253	MELANOMA	-	-	-	-	LRMP	ENST00000361433,p.N189S|NM_006152,p.N189S|uc010sjb.2,p.N136S|uc001rgh.3,p.N189S|NM_001204127,p.N189S|ENST00000536173,p.N136S|uc010sja.2,p.N189S|ENST00000548766,p.N189S|uc010sjd.2,p.N136S|uc010sjc.2,p.N189S|ENST00000547044,p.N189S|ENST00000354454,p.N189S|NM_001204126,p.N189S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sjd.2	nonsynonymous SNV	exon9	c.A407G	p.N136S	KLEERSRDLAEENLKKEITNCLKLL	KLEERSRDLAEESLKKEITNCLKLL	6.0	9.0	unscreened	-	4253_12:25243091-25243091 A>G_KLEERSRDLAEESLKKEITNCLKLL
5:41181565-41181565 C>T	0.0	4253	MELANOMA	-	-	-	-	C6	ENST00000337836,p.G275R|NM_001115131,p.G275R|ENST00000263413,p.G275R|uc003jml.2,p.G275R|uc003jmk.3,p.G275R|NM_000065,p.G275R	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon7	c.G823A	p.G275R	HNENQQGSFSSQGGSSFSVPIFYSS	HNENQQGSFSSQRGSSFSVPIFYSS	1.0	5.0	unscreened	-	4253_5:41181565-41181565 C>T_HNENQQGSFSSQRGSSFSVPIFYSS
6:129634186-129634186 G>A	0.0	4253	MELANOMA	-	-	-	-	LAMA2	uc021zfb.1,p.D1119N|ENST00000421865,p.D1119N|uc003qbo.3,p.D1119N|NM_001079823,p.D1119N|uc003qbn.3,p.D1119N|NM_000426,p.D1119N	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon23	c.G3355A	p.D1119N	DCFLPGTDATTCDSETKKCSCSDQT	DCFLPGTDATTCNSETKKCSCSDQT	1.0	10.0	unscreened	-	4253_6:129634186-129634186 G>A_DCFLPGTDATTCNSETKKCSCSDQT
21:39762917-39762917 C>T	0.0	4253	MELANOMA	-	-	-	1	ERG	ENST00000453032,p.G215S|NM_001136155,p.G215S|ENST00000398910,p.G291S|uc010gnw.3,p.G314S|NM_004449,p.G290S|NM_001136154,p.G314S|uc011aek.2,p.G215S|NM_182918,p.G307S|NM_001243429,p.G191S|uc010gnx.3,p.G290S|ENST00000398919,p.G314S|uc011ael.2,p.G314S|ENST00000442448,p.G290S|uc010gnv.3,p.G191S|ENST00000398907,p.G284S|uc002yxa.3,p.G307S|ENST00000417133,p.G314S|ENST00000398897,p.G191S|ENST00000288319,p.G307S|NM_001243428,p.G314S|ENST00000398905,p.G283S|ENST00000398911,p.G290S|uc002yxb.3,p.G290S	retained_intron, protein_coding, processed_transcript	uc011ael.2	nonsynonymous SNV	exon11	c.G940A	p.G314S	ILGPTSSRLANPGSGQIQLWQFLLE	ILGPTSSRLANPSSGQIQLWQFLLE	5.0	2.0	unscreened	-	4253_21:39762917-39762917 C>T_ILGPTSSRLANPSSGQIQLWQFLLE
7:127026134-127026134 A>G	0.0	4253	MELANOMA	-	-	-	-	ZNF800	uc010lla.2,p.I46T|ENST00000439506,p.I46T|uc003vlx.1,p.I46T|ENST00000434602,p.I46T|ENST00000265827,p.I46T|ENST00000393313,p.I46T|ENST00000393312,p.I46T|ENST00000436992,p.I46T|NM_176814,p.I46T|uc003vly.1,p.I46T	protein_coding, processed_transcript	uc010lla.2	nonsynonymous SNV	exon3	c.T137C	p.I46T	QPLQTSKSGIQQIIECFRSGTKQLK	QPLQTSKSGIQQTIECFRSGTKQLK	7.0	3.0	unscreened	-	4253_7:127026134-127026134 A>G_QPLQTSKSGIQQTIECFRSGTKQLK
13:27847566-27847566 G>A	1.0	4253	MELANOMA	-	-	-	-	RASL11A	uc001urd.1,p.D222N|NM_206827,p.D222N|ENST00000241463,p.D222N	protein_coding, processed_transcript	uc001urd.1	nonsynonymous SNV	exon4	c.G664A	p.D222N	SIIPRPRSPNMQDLKRRFKQALSPK	SIIPRPRSPNMQNLKRRFKQALSPK	6.0	4.0	unscreened	-	4253_13:27847566-27847566 G>A_SIIPRPRSPNMQNLKRRFKQALSPK
6:6305692-6305692 C>T	0.0	4253	MELANOMA	-	-	-	-	F13A1	ENST00000414279,p.E71K|uc003mwv.3,p.E71K|NM_000129,p.E71K|ENST00000264870,p.E71K|ENST00000431222,p.E125K	retained_intron, protein_coding	uc003mwv.3	nonsynonymous SNV	exon3	c.G211A	p.E71K	DTNKVDHHTDKYENNKLIVRRGQSF	DTNKVDHHTDKYKNNKLIVRRGQSF	8.0	2.0	unscreened	-	4253_6:6305692-6305692 C>T_DTNKVDHHTDKYKNNKLIVRRGQSF
11:134182363-134182366 CACG>-	0.0	4253	MELANOMA	-	-	-	-	GLB1L3	uc009zdf.3,p.H470fs|NM_001080407,p.H470fs|ENST00000431683,p.H470fs	retained_intron, protein_coding, nonsense_mediated_decay	uc009zdf.3	frameshift deletion	exon14	c.1408_1411del	p.H470fs	EKSICSGGRLRAHAHDVAQVFLDET	EKSICSGGRLRALMTWHRCFWMRQ	3.0	3.0	unscreened	-	4253_11:134182363-134182366 CACG>-_EKSICSGGRLRALMTWHRCFWMRQ
2:179579111-179579111 G>A	0.0	4253	MELANOMA	-	-	-	-	TTN	ENST00000342992,p.S7553L|uc031rqc.1,p.S8797L|NM_001256850,p.S8480L|ENST00000591111,p.S8480L|ENST00000589042,p.S8797L|uc031rqd.1,p.S8480L|NM_133378,p.S7553L|NM_001267550,p.S8797L|uc021vsy.2,p.S7553L|uc002umz.1,p.S4214L	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon89	c.C25439T	p.S8480L	ISYSENIATLQFSRVEPANAGKYTC	ISYSENIATLQFLRVEPANAGKYTC	5.0	2.0	unscreened	-	4253_2:179579111-179579111 G>A_ISYSENIATLQFLRVEPANAGKYTC
2:31595149-31595149 C>T	0.0	4253	MELANOMA	-	rs61731081	ID=COSM442807;OCCURENCE=1(breast)	-	XDH	ENST00000379416,p.E601K|NM_000379,p.E601K|uc002rnv.1,p.E601K	protein_coding, processed_transcript	uc002rnv.1	nonsynonymous SNV	exon17	c.G1801A	p.E601K	GEAVYCDDIPRYENELSLRLVTSTR	GEAVYCDDIPRYKNELSLRLVTSTR	2.0	2.0	unscreened	-	4253_2:31595149-31595149 C>T_GEAVYCDDIPRYKNELSLRLVTSTR
8:16021760-16021760 C>T	0.0	4253	MELANOMA	-	-	-	-	MSR1	uc003wwz.3,p.E211K|ENST00000355282,p.E211K|ENST00000381998,p.E211K|NM_138716,p.E211K|NM_138715,p.E211K|ENST00000262101,p.E211K|uc003wxb.3,p.E211K|uc003wxa.3,p.E211K|ENST00000350896,p.E211K|NM_002445,p.E211K|uc010lsu.3,p.E229K|ENST00000445506,p.E229K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lsu.3	nonsynonymous SNV	exon5	c.G685A	p.E229K	GKIQENTFKQQEEISKLEERVYNVS	GKIQENTFKQQEKISKLEERVYNVS	7.0	7.0	unscreened	-	4253_8:16021760-16021760 C>T_GKIQENTFKQQEKISKLEERVYNVS
20:47262552-47262552 C>T	1.0	4253	MELANOMA	-	-	-	-	PREX1	ENST00000396220,p.D1117N|uc002xtv.1,p.D414N|NM_020820,p.D1117N|ENST00000371941,p.D1117N|uc002xtw.1,p.D1117N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002xtw.1	nonsynonymous SNV	exon26	c.G3349A	p.D1117N	STITEPTSGGSCDASLAEEASSLPL	STITEPTSGGSCNASLAEEASSLPL	9.0	9.0	unscreened	-	4253_20:47262552-47262552 C>T_STITEPTSGGSCNASLAEEASSLPL
11:123477323-123477323 G>A	0.0	4253	MELANOMA	-	-	-	-	GRAMD1B	ENST00000529750,p.G301R|uc009zbe.1,p.G297R|ENST00000456860,p.G308R|uc010rzw.2,p.G261R|ENST00000322282,p.G301R|uc001pyw.2,p.G308R|ENST00000534764,p.G297R|ENST00000529432,p.G261R|NM_001286563,p.G308R|uc001pyx.2,p.G301R|uc010rzx.1,p.G261R|NM_001286564,p.G261R|NM_020716,p.G301R	retained_intron, protein_coding	uc010rzx.1	nonsynonymous SNV	exon10	c.G781A	p.G261R	STGSSEAPVSFDGLPLEEEALEGDG	STGSSEAPVSFDRLPLEEEALEGDG	5.0	8.0	unscreened	-	4253_11:123477323-123477323 G>A_STGSSEAPVSFDRLPLEEEALEGDG
7:150501930-150501930 G>A	0.0	4253	MELANOMA	-	-	-	-	TMEM176A	NM_018487,p.E228K|ENST00000461345,p.E169K|ENST00000484928,p.E228K|ENST00000004103,p.E228K|uc003whx.1,p.E228K	retained_intron, protein_coding	uc003whx.1	nonsynonymous SNV	exon7	c.G682A	p.E228K	RMFPTKGKRDQKEMLEVSGI	RMFPTKGKRDQKKMLEVSGI	10.0	5.0	unscreened	-	4253_7:150501930-150501930 G>A_RMFPTKGKRDQKKMLEVSGI
2:102808468-102808468 C>T	0.0	4253	MELANOMA	-	-	-	-	IL1RL2	ENST00000264257,p.P126L|uc002tbs.3,p.P126L|ENST00000539491,p.P126L|NM_003854,p.P126L|ENST00000421464,p.P126L	protein_coding, processed_transcript	uc002tbs.3	nonsynonymous SNV	exon4	c.C377T	p.P126L	EKHWCDTSIGGLPNLSDEYKQILHL	EKHWCDTSIGGLLNLSDEYKQILHL	2.0	4.0	unscreened	-	4253_2:102808468-102808468 C>T_EKHWCDTSIGGLLNLSDEYKQILHL
9:138377296-138377296 G>A	1.0	4253	MELANOMA	-	-	-	-	PPP1R26	ENST00000401470,p.E314K|ENST00000356818,p.E314K|NM_014811,p.E314K|ENST00000605286,p.E314K|uc004cfr.1,p.E314K|ENST00000604351,p.E314K|uc022bpi.1,p.E314K|ENST00000605660,p.E314K	protein_coding	uc022bpi.1	nonsynonymous SNV	exon1	c.G940A	p.E314K	PRSLRSKVTTTQENEGSTKPATPCR	PRSLRSKVTTTQKNEGSTKPATPCR	7.0	10.0	unscreened	-	4253_9:138377296-138377296 G>A_PRSLRSKVTTTQKNEGSTKPATPCR
X:105161574-105161574 C>T	0.0	4253	MELANOMA	-	-	-	-	NRK	NM_198465,p.P808S|ENST00000243300,p.P808S|uc010npc.1,p.P476S|uc004emd.3,p.P808S|ENST00000428173,p.P809S	protein_coding	uc010npc.1	nonsynonymous SNV	exon16	c.C1426T	p.P476S	DHAHHVKFSSSVPQRSLLEQAQKPI	DHAHHVKFSSSVSQRSLLEQAQKPI	3.0	10.0	unscreened	-	4253_X:105161574-105161574 C>T_DHAHHVKFSSSVSQRSLLEQAQKPI
19:47503883-47503883 A>C	1.0	4253	MELANOMA	-	-	-	-	ARHGAP35	NM_004491,p.T1480P|uc010ekv.3,p.T1480P|ENST00000404338,p.T1480P	retained_intron, protein_coding, processed_transcript	uc010ekv.3	nonsynonymous SNV	exon6	c.A4438C	p.T1480P	TSQPSPPQSPPPTPQSPMQPLLPSQ	TSQPSPPQSPPPPPQSPMQPLLPSQ	8.0	1.0	unscreened	-	4253_19:47503883-47503883 A>C_TSQPSPPQSPPPPPQSPMQPLLPSQ
21:31691870-31691870 C>T	0.0	4253	MELANOMA	-	-	-	-	KRTAP26-1	ENST00000360542,p.G162R|uc002ynw.3,p.G162R|NM_203405,p.G162R	protein_coding	uc002ynw.3	nonsynonymous SNV	exon1	c.G484A	p.G162R	SKSCQPQNLLTSGCQPSSCLAYRPQ	SKSCQPQNLLTSRCQPSSCLAYRPQ	1.0	8.0	unscreened	-	4253_21:31691870-31691870 C>T_SKSCQPQNLLTSRCQPSSCLAYRPQ
6:29080470-29080470 G>A	0.0	4253	MELANOMA	-	-	-	-	OR2J3	uc011dll.2,p.G268E|NM_001005216,p.G268E|ENST00000377169,p.G268E	protein_coding	uc011dll.2	nonsynonymous SNV	exon1	c.G803A	p.G268E	IPAMCMYLQPPSGNSQDQGKFIALF	IPAMCMYLQPPSENSQDQGKFIALF	1.0	10.0	unscreened	-	4253_6:29080470-29080470 G>A_IPAMCMYLQPPSENSQDQGKFIALF
10:104175875-104175875 C>T	0.0	4253	MELANOMA	-	-	-	-	PSD	ENST00000020673,p.G219E|uc009xxd.2,p.G219E|uc001kvg.2,p.G219E|NM_001270965,p.G219E|NM_002779,p.G219E|ENST00000406432,p.G219E	protein_coding, processed_transcript	uc009xxd.2	nonsynonymous SNV	exon4	c.G656A	p.G219E	FGGPADTGFLNQGDTWSSPREVSSH	FGGPADTGFLNQEDTWSSPREVSSH	6.0	9.0	unscreened	-	4253_10:104175875-104175875 C>T_FGGPADTGFLNQEDTWSSPREVSSH
7:7495697-7495697 C>T	0.0	4253	MELANOMA	-	-	-	-	COL28A1	uc003src.1,p.G450E|NM_001037763,p.G450E|ENST00000399429,p.G450E|uc011jxe.1,p.G133E	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxe.1	nonsynonymous SNV	exon17	c.G398A	p.G133E	GPVGPQGPMGIPGIGSQGEQGIQGP	GPVGPQGPMGIPEIGSQGEQGIQGP	5.0	1.0	unscreened	-	4253_7:7495697-7495697 C>T_GPVGPQGPMGIPEIGSQGEQGIQGP
8:53050002-53050002 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1673900;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	ST18	uc003xra.2,p.G737E|uc011ldq.1,p.G384E|NM_014682,p.G737E|uc011lds.1,p.G642E|uc003xqz.2,p.G737E|uc011ldr.1,p.G702E|ENST00000276480,p.G737E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lds.1	nonsynonymous SNV	exon13	c.G1925A	p.G642E	PTPGCDGSGHVTGNYASHRSVSGCP	PTPGCDGSGHVTENYASHRSVSGCP	3.0	5.0	unscreened	-	4253_8:53050002-53050002 C>T_PTPGCDGSGHVTENYASHRSVSGCP
17:43313535-43313535 G>A	0.0	4253	MELANOMA	0.0005	-	-	-	FMNL1	ENST00000331495,p.R216Q|ENST00000328118,p.R216Q|NM_005892,p.R216Q|uc002iin.3,p.R216Q	retained_intron, protein_coding, processed_transcript	uc002iin.3	nonsynonymous SNV	exon7	c.G647A	p.R216Q	IKLTPAHSRKALRNSRIVSQKDDVH	IKLTPAHSRKALQNSRIVSQKDDVH	8.0	5.0	unscreened	-	4253_17:43313535-43313535 G>A_IKLTPAHSRKALQNSRIVSQKDDVH
1:120438188-120438188 C>T	0.0	4253	MELANOMA	-	-	-	-	ADAM30	ENST00000369400,p.D258N|uc001eij.3,p.D258N|NM_021794,p.D258N	protein_coding	uc001eij.3	nonsynonymous SNV	exon1	c.G772A	p.D258N	MRIHLKALEVWTDFNKIRVGYPELA	MRIHLKALEVWTNFNKIRVGYPELA	1.0	2.0	unscreened	-	4253_1:120438188-120438188 C>T_MRIHLKALEVWTNFNKIRVGYPELA
11:34502425-34502425 C>T	0.0	4253	MELANOMA	-	-	-	-	ELF5	NM_001243081,p.E121K|uc021qft.1,p.E121K|uc001mvp.2,p.E189K|uc001mvo.1,p.E199K|ENST00000257832,p.E189K|uc009ykd.2,p.E94K|NM_001243080,p.E94K|ENST00000429939,p.E94K|ENST00000312319,p.E199K|NM_001422,p.E189K|NM_198381,p.E199K	protein_coding, processed_transcript	uc021qft.1	nonsynonymous SNV	exon5	c.G361A	p.E121K	EENCGILEWEDREQGIFRVVKSEAL	EENCGILEWEDRKQGIFRVVKSEAL	3.0	2.0	unscreened	-	4253_11:34502425-34502425 C>T_EENCGILEWEDRKQGIFRVVKSEAL
3:44303962-44303962 G>A	0.0	4253	MELANOMA	-	-	-	-	TOPAZ1	uc003cna.4,p.E1003K|ENST00000309765,p.E1003K|NM_001145030,p.E1003K	protein_coding	uc003cna.4	nonsynonymous SNV	exon5	c.G3007A	p.E1003K	KVITKEEKENIYEVCKSKDSRNADF	KVITKEEKENIYKVCKSKDSRNADF	1.0	9.0	unscreened	-	4253_3:44303962-44303962 G>A_KVITKEEKENIYKVCKSKDSRNADF
3:97167412-97167412 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1725620,COSM1725619,COSM1725618;OCCURENCE=1(liver)	-	EPHA6	NM_001080448,p.E578K|ENST00000389672,p.E578K|uc010how.1,p.E578K	protein_coding, nonsense_mediated_decay	uc010how.1	nonsynonymous SNV	exon7	c.G1732A	p.E578K	AILDYEIKYYEKEHEQLTYSSTRSK	AILDYEIKYYEKKHEQLTYSSTRSK	4.0	2.0	unscreened	-	4253_3:97167412-97167412 G>A_AILDYEIKYYEKKHEQLTYSSTRSK
7:131870220-131870220 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1085630,COSM1085629;OCCURENCE=1(endometrium),1(lung)	-	PLXNA4	ENST00000321063,p.R999Q|ENST00000359827,p.R999Q|uc003vra.4,p.R999Q|NM_020911,p.R999Q	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon16	c.G2996A	p.R999Q	VMFGKQPCLFHRRSPSYIVCNTTSS	VMFGKQPCLFHRQSPSYIVCNTTSS	4.0	4.0	unscreened	-	4253_7:131870220-131870220 C>T_VMFGKQPCLFHRQSPSYIVCNTTSS
1:202126924-202126924 C>T	0.0	4253	MELANOMA	-	-	-	-	PTPN7	ENST00000467283,p.E111K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000467283	nonsynonymous SNV	exon4	c.G331A	p.E111K	EEFLIPSNFVSPEDLDIPGHASKDR	EEFLIPSNFVSPKDLDIPGHASKDR	8.0	3.0	unscreened	-	4253_1:202126924-202126924 C>T_EEFLIPSNFVSPKDLDIPGHASKDR
2:231861174-231861174 G>A	0.0	4253	MELANOMA	-	-	-	-	SPATA3	NM_139073,p.E76K|uc010zmd.2,p.E76K|ENST00000424440,p.E76K|ENST00000433428,p.E76K|ENST00000455816,p.E76K|ENST00000440792,p.E42K|ENST00000452881,p.E76K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zmd.2	nonsynonymous SNV	exon1	c.G226A	p.E76K	SRQPAFQALPAPEIRRSSCCLLSPD	SRQPAFQALPAPKIRRSSCCLLSPD	1.0	1.0	unscreened	-	4253_2:231861174-231861174 G>A_SRQPAFQALPAPKIRRSSCCLLSPD
3:44284563-44284563 G>A	0.0	4253	MELANOMA	-	-	-	-	TOPAZ1	NM_001145030,p.E189K|ENST00000309765,p.E189K|uc003cna.4,p.E189K	protein_coding	uc003cna.4	nonsynonymous SNV	exon2	c.G565A	p.E189K	SLENPPLKITENEATQNIKVEFQDE	SLENPPLKITENKATQNIKVEFQDE	1.0	1.0	unscreened	-	4253_3:44284563-44284563 G>A_SLENPPLKITENKATQNIKVEFQDE
X:47272442-47272442 C>T	0.0	4253	MELANOMA	-	-	-	-	ZNF157	uc004dhr.1,p.H324Y|ENST00000377073,p.H324Y|NM_003446,p.H324Y	protein_coding	uc004dhr.1	nonsynonymous SNV	exon4	c.C970T	p.H324Y	RAKKSLNQHQRIHTGEKPYECGECG	RAKKSLNQHQRIYTGEKPYECGECG	3.0	10.0	unscreened	-	4253_X:47272442-47272442 C>T_RAKKSLNQHQRIYTGEKPYECGECG
15:33858888-33858888 C>T	1.0	4253	MELANOMA	-	-	-	-	RYR3	uc001zhi.3,p.H386Y|ENST00000389232,p.H386Y|NM_001036,p.H386Y|uc010bar.3,p.H386Y|NM_001243996,p.H386Y|ENST00000415757,p.H386Y	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon12	c.C1156T	p.H386Y	SRLGPLKRKVILHQEGHMDDGLTLQ	SRLGPLKRKVILYQEGHMDDGLTLQ	4.0	3.0	unscreened	-	4253_15:33858888-33858888 C>T_SRLGPLKRKVILYQEGHMDDGLTLQ
11:114393768-114393768 G>A	0.0	4253	MELANOMA	-	-	-	-	NXPE1	ENST00000424269,p.P314L|uc001ppa.3,p.P172L|uc010rxd.2,p.P21L|NM_152315,p.P172L|ENST00000536271,p.P30L|ENST00000251921,p.P172L	protein_coding	uc010rxd.2	nonsynonymous SNV	exon3	c.C62T	p.P21L	KIEETCQVGMKPPVPGGYTLQGKWI	KIEETCQVGMKPLVPGGYTLQGKWI	2.0	8.0	unscreened	-	4253_11:114393768-114393768 G>A_KIEETCQVGMKPLVPGGYTLQGKWI
17:7907019-7907019 G>A	0.0	4253	MELANOMA	-	-	-	-	GUCY2D	NM_000180,p.M218I|uc002gjt.2,p.M218I|ENST00000254854,p.M218I	retained_intron, protein_coding	uc002gjt.2	nonsynonymous SNV	exon2	c.G654A	p.M218I	RARGLPVASVTSMEPLDLSGAREAL	RARGLPVASVTSIEPLDLSGAREAL	3.0	6.0	unscreened	-	4253_17:7907019-7907019 G>A_RARGLPVASVTSIEPLDLSGAREAL
19:48305358-48305358 G>A	0.0	4253	MELANOMA	-	-	-	-	TPRX1	NM_198479,p.P304S|ENST00000322175,p.P304S|ENST00000535759,p.P401S|uc002php.2,p.P304S|ENST00000543508,p.P294S	protein_coding	uc002php.2	nonsynonymous SNV	exon2	c.C910T	p.P304S	RMRSPGSLPGLAPILGPGSGPGSGS	RMRSPGSLPGLASILGPGSGPGSGS	1.0	1.0	unscreened	-	4253_19:48305358-48305358 G>A_RMRSPGSLPGLASILGPGSGPGSGS
14:70990606-70990606 C>T	0.0	4253	MELANOMA	-	-	-	-	ADAM20	uc001xme.3,p.R340Q|ENST00000256389,p.R340Q|uc021rvs.1,p.R340Q|NM_003814,p.R340Q	protein_coding	uc021rvs.1	nonsynonymous SNV	exon1	c.G1019A	p.R340Q	DFSIWKNYNLNNRLQHDVAHLFIKD	DFSIWKNYNLNNQLQHDVAHLFIKD	4.0	2.0	unscreened	-	4253_14:70990606-70990606 C>T_DFSIWKNYNLNNQLQHDVAHLFIKD
5:79042932-79042932 G>A	0.0	4253	MELANOMA	-	-	-	-	CMYA5	ENST00000446378,p.E3663K|uc003kgc.3,p.E3663K|NM_153610,p.E3663K	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon5	c.G10987A	p.E3663K	EAVFLTSFEEINERLLSAMESTASL	EAVFLTSFEEINKRLLSAMESTASL	5.0	6.0	unscreened	-	4253_5:79042932-79042932 G>A_EAVFLTSFEEINKRLLSAMESTASL
2:228118304-228118304 G>A	0.0	4253	MELANOMA	-	-	-	-	COL4A3	NM_000091,p.G239R|uc002vom.2,p.G239R|ENST00000396578,p.G239R	retained_intron, protein_coding, processed_transcript	uc002vom.2	nonsynonymous SNV	exon13	c.G715A	p.G239R	GERGVKGLTGPPGPPGTVIVTLTGP	GERGVKGLTGPPRPPGTVIVTLTGP	1.0	2.0	unscreened	-	4253_2:228118304-228118304 G>A_GERGVKGLTGPPRPPGTVIVTLTGP
X:73965411-73965411 T>A	0.0	4253	MELANOMA	-	-	-	-	KIAA2022	NM_001008537,p.E25D|uc004eby.3,p.E25D|ENST00000055682,p.E25D|ENST00000373468,p.E25D	protein_coding	uc004eby.3	nonsynonymous SNV	exon2	c.A75T	p.E25D	ANGENTLINGVKENDSEDQDVAMKS	ANGENTLINGVKDNDSEDQDVAMKS	1.0	10.0	unscreened	-	4253_X:73965411-73965411 T>A_ANGENTLINGVKDNDSEDQDVAMKS
18:44101217-44101217 C>T	0.0	4253	MELANOMA	-	-	-	-	LOXHD1	uc002lce.4,p.S498N|NM_001145472,p.S594N|ENST00000300591,p.S594N|ENST00000398722,p.S1427N|ENST00000579038,p.S498N|ENST00000441551,p.S1499N|uc002lcf.4,p.S594N	retained_intron, protein_coding, nonsense_mediated_decay	uc002lcf.4	nonsynonymous SNV	exon15	c.G1781A	p.S594N	KIELGHDGASPESCWLVEELCLAVP	KIELGHDGASPENCWLVEELCLAVP	3.0	2.0	unscreened	-	4253_18:44101217-44101217 C>T_KIELGHDGASPENCWLVEELCLAVP
7:141755813-141755813 C>T	0.0	4253	MELANOMA	-	-	ID=COSM229084,COSM229083;OCCURENCE=1(skin)	-	MGAM	NM_004668,p.S1166F|ENST00000549489,p.S1166F|ENST00000475668,p.S1166F|uc003vwy.3,p.S1166F	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon29	c.C3497T	p.S1166F	FSRDQPPGYKKNSYGVHPYYMGLEE	FSRDQPPGYKKNFYGVHPYYMGLEE	2.0	4.0	unscreened	-	4253_7:141755813-141755813 C>T_FSRDQPPGYKKNFYGVHPYYMGLEE
1:202126924-202126924 C>T	0.0	4253	MELANOMA	-	-	-	-	PTPN7	NM_002832,p.E217K|uc010ppw.2,p.E60K|ENST00000308986,p.E112K|ENST00000367279,p.E151K|NM_080588,p.E151K|ENST00000309017,p.E217K|uc010ppx.2,p.E186K|ENST00000477554,p.E193K|ENST00000464870,p.E112K|uc001gxl.2,p.E151K|ENST00000486116,p.E112K|ENST00000476061,p.E111K|uc001gxm.2,p.E217K|NM_001199797,p.E186K|uc001gxo.1,p.E64K|uc001gxn.3,p.E217K|ENST00000495688,p.E112K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ppx.2	nonsynonymous SNV	exon4	c.G556A	p.E186K	EFLKIPSNFVSPEDLDIPGHASKDR	EFLKIPSNFVSPKDLDIPGHASKDR	8.0	3.0	unscreened	-	4253_1:202126924-202126924 C>T_EFLKIPSNFVSPKDLDIPGHASKDR
19:42213788-42213788 G>A	0.0	4253	MELANOMA	-	-	-	-	CEACAM5	ENST00000598976,p.G85E|ENST00000405816,p.G85E|ENST00000221992,p.G85E|uc002orl.3,p.G85E|ENST00000398599,p.G85E|uc002orj.1,p.G85E|uc010ehz.1,p.G85E|NM_004363,p.G85E|NM_001291484,p.G85E	 protein_coding,retained_intron,protein_coding	uc010ehz.1	nonsynonymous SNV	exon2	c.G254A	p.G85E	VDGNRQIIGYVIGTQQATPGPAYSG	VDGNRQIIGYVIETQQATPGPAYSG	1.0	8.0	unscreened	-	4253_19:42213788-42213788 G>A_VDGNRQIIGYVIETQQATPGPAYSG
8:28981619-28981619 G>A	0.0	4253	MELANOMA	-	-	-	-	KIF13B	ENST00000524189,p.R1092C|uc003xhh.4,p.R1092C|NM_015254,p.R1092C	retained_intron, protein_coding, nonsense_mediated_decay	uc003xhh.4	nonsynonymous SNV	exon27	c.C3274T	p.R1092C	MDSYQDRDLERLRRKWLNALTKRQE	MDSYQDRDLERLCRKWLNALTKRQE	6.0	5.0	unscreened	-	4253_8:28981619-28981619 G>A_MDSYQDRDLERLCRKWLNALTKRQE
X:73963233-73963233 C>T	0.0	4253	MELANOMA	-	-	-	-	KIAA2022	uc004eby.3,p.E387K|NM_001008537,p.E387K|ENST00000055682,p.E387K|ENST00000373468,p.E387K	protein_coding	uc004eby.3	nonsynonymous SNV	exon3	c.G1159A	p.E387K	EEDKNLDKKKGKEEGQEDKGVEKKD	EEDKNLDKKKGKKEGQEDKGVEKKD	1.0	10.0	unscreened	-	4253_X:73963233-73963233 C>T_EEDKNLDKKKGKKEGQEDKGVEKKD
19:50464043-50464043 C>T	0.0	4253	MELANOMA	-	-	-	-	SIGLEC11	NM_052884,p.G76R|uc010ybi.2,p.G76R|uc010ybh.2,p.G76R|ENST00000447370,p.G76R|NM_001135163,p.G76R|ENST00000426971,p.G76R	protein_coding, nonsense_mediated_decay	uc010ybi.2	nonsynonymous SNV	exon2	c.G226A	p.G76R	DESTAAYGYWFKGRTSPKTGAPVAT	DESTAAYGYWFKRRTSPKTGAPVAT	7.0	1.0	unscreened	-	4253_19:50464043-50464043 C>T_DESTAAYGYWFKRRTSPKTGAPVAT
20:2638797-2638797 G>A	1.0	4253	MELANOMA	-	-	-	-	NOP56	uc002wgi.3,p.E382K|NM_006392,p.E548K|ENST00000329276,p.E548K|uc002wgh.3,p.E548K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002wgi.3	nonsynonymous SNV	exon11	c.G1144A	p.E382K	KSTPKEETVNDPEEAGHRSGSKKKR	KSTPKEETVNDPKEAGHRSGSKKKR	10.0	6.0	unscreened	-	4253_20:2638797-2638797 G>A_KSTPKEETVNDPKEAGHRSGSKKKR
22:16277778-16277778 C>T	0.0	4253	MELANOMA	-	-	-	-	POTEH	NM_001136213,p.R379K|uc002zlh.1,p.R98K|ENST00000343518,p.R379K|uc010gqp.2,p.R379K|uc002zlj.1,p.R214K	protein_coding, nonsense_mediated_decay	uc010gqp.2	nonsynonymous SNV	exon5	c.G1136A	p.R379K	DVSSQDLSGQTAREYAVSSRHNVIC	DVSSQDLSGQTAKEYAVSSRHNVIC	4.0	1.0	unscreened	-	4253_22:16277778-16277778 C>T_DVSSQDLSGQTAKEYAVSSRHNVIC
8:105025705-105025705 G>A	1.0	4253	MELANOMA	-	-	-	-	RIMS2	uc003ylw.2,p.R841K|NM_014677,p.R841K|uc003ylr.3,p.R866K|NM_001282881,p.R866K|uc003ylp.3,p.R1027K|ENST00000507740,p.R841K|uc003ylq.3,p.R841K|ENST00000408894,p.R841K|ENST00000504942,p.R1027K|NM_001100117,p.R1027K|ENST00000406091,p.R1027K|ENST00000262231,p.R866K	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon16	c.G2522A	p.R841K	RDCEAADRQPYHRSRSTEQRPLLER	RDCEAADRQPYHKSRSTEQRPLLER	9.0	6.0	unscreened	-	4253_8:105025705-105025705 G>A_RDCEAADRQPYHKSRSTEQRPLLER
1:114442504-114442504 A>C	0.0	4253	MELANOMA	-	-	-	-	AP4B1-AS1	uc001edv.2,p.E49D	protein_coding, processed_transcript	uc001edv.2	nonsynonymous SNV	exon5	c.A147C	p.E49D	YKSTGLEPPGSQEGKGADTYLWQRW	YKSTGLEPPGSQDGKGADTYLWQRW	8.0	8.0	unscreened	-	4253_1:114442504-114442504 A>C_YKSTGLEPPGSQDGKGADTYLWQRW
2:125671849-125671849 G>A	0.0	4253	MELANOMA	-	-	-	-	CNTNAP5	NM_130773,p.R1302Q|uc002tno.3,p.R1302Q|ENST00000431078,p.R1302Q|uc010flu.3,p.R1303Q	retained_intron, protein_coding, processed_transcript	uc010flu.3	nonsynonymous SNV	exon24	c.G3908A	p.R1303Q	EIDLQNTVSECKREYFI	EIDLQNTVSECKQEYFI	3.0	1.0	unscreened	-	4253_2:125671849-125671849 G>A_EIDLQNTVSECKQEYFI
1:149877445-149877445 G>A	0.0	4253	MELANOMA	-	-	-	-	SV2A	uc009wlk.3,p.P130S|uc001etg.3,p.P678S|NM_014849,p.P678S|NM_001278719,p.P130S|ENST00000369146,p.P678S	protein_coding	uc009wlk.3	nonsynonymous SNV	exon2	c.C388T	p.P130S	WNALDVLTVELYPSDKRTTAFGFLN	WNALDVLTVELYSSDKRTTAFGFLN	4.0	7.0	unscreened	-	4253_1:149877445-149877445 G>A_WNALDVLTVELYSSDKRTTAFGFLN
7:43484659-43484659 C>T	0.0	4253	MELANOMA	-	-	-	-	HECW1	uc011kbi.1,p.P630S|uc003tid.1,p.P630S|ENST00000453890,p.P630S|NM_001287059,p.P630S|ENST00000395891,p.P630S|NM_015052,p.P630S	protein_coding, processed_transcript	uc011kbi.1	nonsynonymous SNV	exon10	c.C1888T	p.P630S	EEPEGATPGTAHPGHSGGHFPSLAN	EEPEGATPGTAHSGHSGGHFPSLAN	6.0	1.0	unscreened	-	4253_7:43484659-43484659 C>T_EEPEGATPGTAHSGHSGGHFPSLAN
16:7657323-7657323 G>A	0.0	4253	MELANOMA	-	-	-	-	RBFOX1	ENST00000547338,p.S220N|uc010uya.1,p.S177N|uc002cyx.2,p.S240N|ENST00000436368,p.S240N|ENST00000547372,p.S263N|uc002cyw.2,p.S240N|uc002cyy.2,p.S240N|NM_001142334,p.S220N|uc010uyb.1,p.S220N|uc002cyv.1,p.S220N|NM_145893,p.S240N|uc010buf.1,p.S220N|uc010uxz.1,p.S263N|ENST00000311745,p.S240N|uc002cyr.1,p.S219N|ENST00000535565,p.S177N|ENST00000552089,p.S237N|ENST00000547605,p.S219N|ENST00000340209,p.S225N|ENST00000422070,p.S263N|ENST00000550418,p.S220N|ENST00000355637,p.S240N|NM_018723,p.S220N|ENST00000551752,p.S220N|NM_145891,p.S240N|uc002cys.2,p.S220N|NM_145892,p.S240N	retained_intron, protein_coding, processed_transcript	uc010uyb.1	nonsynonymous SNV	exon8	c.G659A	p.S220N	GWKLNPVVGAVYSPEFYAGTVLLCQ	GWKLNPVVGAVYNPEFYAGTVLLCQ	4.0	7.0	unscreened	-	4253_16:7657323-7657323 G>A_GWKLNPVVGAVYNPEFYAGTVLLCQ
17:33875767-33875767 C>T	0.0	4253	MELANOMA	-	-	ID=COSM3421449;OCCURENCE=1(large_intestine)	-	SLFN14	uc010ctu.1,p.E744K|NM_001129820,p.E744K|ENST00000415846,p.E744K	protein_coding	uc010ctu.1	nonsynonymous SNV	exon4	c.G2230A	p.E744K	IHCALEIAKVMKEEMKRIKENPPSN	IHCALEIAKVMKKEMKRIKENPPSN	2.0	10.0	unscreened	-	4253_17:33875767-33875767 C>T_IHCALEIAKVMKKEMKRIKENPPSN
1:57341848-57341848 G>A	0.0	4253	MELANOMA	-	-	-	-	C8A	ENST00000361249,p.E144K|uc001cyo.2,p.E144K|NM_000562,p.E144K	protein_coding	uc001cyo.2	nonsynonymous SNV	exon4	c.G430A	p.E144K	DVRAIDEDCSQYEPIPGSQKAALGY	DVRAIDEDCSQYKPIPGSQKAALGY	2.0	6.0	unscreened	-	4253_1:57341848-57341848 G>A_DVRAIDEDCSQYKPIPGSQKAALGY
5:178506211-178506211 C>T	0.0	4253	MELANOMA	-	-	-	-	ZNF354C	uc003mju.3,p.L260F|ENST00000315475,p.L260F|NM_014594,p.L260F	protein_coding	uc003mju.3	nonsynonymous SNV	exon5	c.C778T	p.L260F	ECEKTFSHRSSLLSHQRIHTGEKPY	ECEKTFSHRSSLFSHQRIHTGEKPY	6.0	7.0	unscreened	-	4253_5:178506211-178506211 C>T_ECEKTFSHRSSLFSHQRIHTGEKPY
21:30329108-30329108 C>T	1.0	4253	MELANOMA	-	-	-	-	LTN1	uc002ymr.2,p.E1065K|ENST00000361371,p.E1019K|NM_015565,p.E1065K|ENST00000389194,p.E1065K	protein_coding, processed_transcript	uc002ymr.2	nonsynonymous SNV	exon16	c.G3193A	p.E1065K	MVLIALRKETVLENNELEKIIAELL	MVLIALRKETVLKNNELEKIIAELL	6.0	7.0	unscreened	-	4253_21:30329108-30329108 C>T_MVLIALRKETVLKNNELEKIIAELL
11:7847516-7847516 C>T	0.0	4253	MELANOMA	-	-	-	-	OR5P3	ENST00000328375,p.G2R|uc010rbg.2,p.G2R|NM_153445,p.G2R	protein_coding	uc010rbg.2	nonsynonymous SNV	exon1	c.G4A	p.G2R	MGTGNDTTVVEFTL	MRTGNDTTVVEFTL	1.0	7.0	unscreened	-	4253_11:7847516-7847516 C>T_MRTGNDTTVVEFTL
11:49055893-49055893 G>A	0.0	4253	MELANOMA	-	-	-	-	TRIM49B	uc021qix.1,p.E235K|NM_001206626,p.E235K|ENST00000332682,p.E235K	protein_coding	uc021qix.1	nonsynonymous SNV	exon3	c.G703A	p.E235K	REILRGMYEELNEMCHKPDVELLQA	REILRGMYEELNKMCHKPDVELLQA	3.0	3.0	unscreened	-	4253_11:49055893-49055893 G>A_REILRGMYEELNKMCHKPDVELLQA
16:20476980-20476980 G>A	0.0	4253	MELANOMA	-	-	-	-	ACSM2A	uc002dhf.4,p.D107N|uc010vay.2,p.D28N|ENST00000574251,p.D28N|ENST00000574692,p.D107N|uc010vax.1,p.D28N|ENST00000573854,p.D107N|uc002dhg.4,p.D107N|uc010bwe.3,p.D107N|ENST00000424070,p.D107N|ENST00000219054,p.D107N|ENST00000417235,p.D28N|NM_001010845,p.D107N|ENST00000396104,p.D107N|ENST00000575690,p.D107N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vay.2	nonsynonymous SNV	exon2	c.G82A	p.D28N	NVLSGACGLQRGDRVAVVLPRVPEW	NVLSGACGLQRGNRVAVVLPRVPEW	3.0	4.0	unscreened	-	4253_16:20476980-20476980 G>A_NVLSGACGLQRGNRVAVVLPRVPEW
13:101755534-101755534 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1722311;OCCURENCE=2(NS)	-	NALCN	ENST00000251127,p.E1016K|uc001vox.1,p.E1016K|NM_052867,p.E1016K	retained_intron, protein_coding, processed_transcript	uc001vox.1	nonsynonymous SNV	exon26	c.G3046A	p.E1016K	RKVVRELFSGFKEIFLVSILLLTLM	RKVVRELFSGFKKIFLVSILLLTLM	3.0	5.0	unscreened	-	4253_13:101755534-101755534 C>T_RKVVRELFSGFKKIFLVSILLLTLM
4:9784941-9784941 G>A	0.0	4253	MELANOMA	-	-	-	-	DRD5	ENST00000304374,p.E430K|NM_000798,p.E430K|uc003gmb.4,p.E430K	protein_coding	uc003gmb.4	nonsynonymous SNV	exon1	c.G1288A	p.E430K	VTPGNREVDNDEEEGPFDRMFQIYQ	VTPGNREVDNDEKEGPFDRMFQIYQ	1.0	9.0	unscreened	-	4253_4:9784941-9784941 G>A_VTPGNREVDNDEKEGPFDRMFQIYQ
12:25314100-25314100 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1676792,COSM1676791;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	CASC1	uc001rgl.3,p.A12V|NM_001082973,p.A12V|uc010sjg.1,p.A12V|ENST00000556467,p.A12V|ENST00000554533,p.A12V|ENST00000320267,p.A12V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sjg.1	nonsynonymous SNV	exon2	c.C35T	p.A12V	MSGSKKKKVTKAERLKLLQEEEER	MSGSKKKKVTKVERLKLLQEEEER	5.0	3.0	unscreened	-	4253_12:25314100-25314100 G>A_MSGSKKKKVTKVERLKLLQEEEER
12:25314100-25314100 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1676792,COSM1676791;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	CASC1	NM_018272,p.A18V|ENST00000354189,p.A76V|NM_001082972,p.A76V|uc001rgk.3,p.A18V|ENST00000395987,p.A18V|uc001rgm.4,p.A76V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rgm.4	nonsynonymous SNV	exon3	c.C227T	p.A76V	KKSGSKKKKVTKAERLKLLQEEEER	KKSGSKKKKVTKVERLKLLQEEEER	5.0	3.0	unscreened	-	4253_12:25314100-25314100 G>A_KKSGSKKKKVTKVERLKLLQEEEER
13:58298775-58298775 G>A	0.0	4253	MELANOMA	-	-	-	-	PCDH17	uc001vhr.1,p.E32K|uc010aec.1,p.E942K|NM_001040429,p.E943K|uc001vhq.1,p.E943K|ENST00000377918,p.E943K	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon4	c.G2824A	p.E942K	EQEPEECVNCTDECRVLGHSDRCWM	EQEPEECVNCTDKCRVLGHSDRCWM	6.0	6.0	unscreened	-	4253_13:58298775-58298775 G>A_EQEPEECVNCTDKCRVLGHSDRCWM
16:3254935-3254935 C>T	0.0	4253	MELANOMA	-	-	-	-	OR1F1	NM_012360,p.S230F|ENST00000304646,p.S230F|uc010uwu.2,p.S230F	protein_coding	uc010uwu.2	nonsynonymous SNV	exon1	c.C689T	p.S230F	YMHITCTVLKVPSTKGRWKAFSTCG	YMHITCTVLKVPFTKGRWKAFSTCG	1.0	8.0	unscreened	-	4253_16:3254935-3254935 C>T_YMHITCTVLKVPFTKGRWKAFSTCG
1:6529300-6529300 T>C	0.0	4253	MELANOMA	-	-	-	-	PLEKHG5	uc001anp.2,p.N761S|NM_001265593,p.N753S|uc001anl.2,p.N684S|ENST00000377737,p.N684S|uc001ano.1,p.N740S|uc001anq.2,p.N761S|uc001anm.2,p.N684S|ENST00000537245,p.N763S|NM_001265592,p.N763S|uc009vma.1,p.N524S|NM_198681,p.N761S|NM_020631,p.N684S|ENST00000340850,p.N684S|NM_001265594,p.N684S|NM_001042663,p.N740S|uc001ank.1,p.N684S|uc001anj.1,p.N245S|ENST00000377740,p.N761S|ENST00000377725,p.N684S|ENST00000544978,p.N684S|ENST00000377732,p.N721S|uc031plb.1,p.N763S|uc010nzr.1,p.N753S|uc009vmb.2,p.N684S|ENST00000400913,p.N684S|ENST00000377748,p.N761S|NM_001042665,p.N684S|NM_001042664,p.N684S|ENST00000400915,p.N740S|ENST00000377728,p.N684S|uc001ann.1,p.N721S|ENST00000535355,p.N753S	retained_intron, protein_coding	uc031plb.1	nonsynonymous SNV	exon20	c.A2288G	p.N763S	CRGWVDTIYNAQNQLQQLRAQEPPG	CRGWVDTIYNAQSQLQQLRAQEPPG	6.0	6.0	unscreened	-	4253_1:6529300-6529300 T>C_CRGWVDTIYNAQSQLQQLRAQEPPG
8:39564406-39564406 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1700007;OCCURENCE=2(skin)	-	ADAM18	uc003xni.3,p.G667E|uc010lwx.3,p.G643E|ENST00000541111,p.G81E|NM_014237,p.G667E|ENST00000379866,p.G643E|ENST00000265707,p.G667E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lwx.3	nonsynonymous SNV	exon17	c.G1928A	p.G643E	FQFGSPGGSIDDGNFQKSGDFYTEK	FQFGSPGGSIDDENFQKSGDFYTEK	2.0	6.0	unscreened	-	4253_8:39564406-39564406 G>A_FQFGSPGGSIDDENFQKSGDFYTEK
1:175113579-175113579 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1733603;OCCURENCE=1(pancreas)	-	TNN	uc001gkl.1,p.D1218N|ENST00000239462,p.D1218N|NM_022093,p.D1218N	protein_coding	uc001gkl.1	nonsynonymous SNV	exon18	c.G3652A	p.D1218N	NGWKFTTFDRDNDIALSNCALTHHG	NGWKFTTFDRDNNIALSNCALTHHG	4.0	9.0	unscreened	-	4253_1:175113579-175113579 G>A_NGWKFTTFDRDNNIALSNCALTHHG
6:136599723-136599723 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1073682;OCCURENCE=1(endometrium)	2	BCLAF1	NM_014739,p.R99K|uc003qgw.1,p.R99K|NM_001077441,p.R99K|uc003qgy.1,p.R97K|ENST00000534269,p.R97K|ENST00000531224,p.R99K|ENST00000530767,p.R99K|NM_001077440,p.R97K|ENST00000527759,p.R97K|ENST00000532384,p.R99K|ENST00000527613,p.R99K|ENST00000353331,p.R97K|ENST00000530429,p.R97K|ENST00000392348,p.R97K|ENST00000527536,p.R99K|NM_001301038,p.R97K|uc011ede.1,p.R97K|uc003qgx.1,p.R99K|ENST00000529826,p.R99K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ede.1	nonsynonymous SNV	exon4	c.G290A	p.R97K	RYHRGGYRPVWNRRHSRSPRRGRSR	RYHRGGYRPVWNKRHSRSPRRGRSR	10.0	2.0	unscreened	-	4253_6:136599723-136599723 C>T_RYHRGGYRPVWNKRHSRSPRRGRSR
X:150908188-150908188 G>A	0.0	4253	MELANOMA	-	-	-	-	CNGA2	uc004fey.1,p.E120K|ENST00000329903,p.E120K|NM_005140,p.E120K	protein_coding	uc004fey.1	nonsynonymous SNV	exon4	c.G358A	p.E120K	TQEGDGKGDKDGEDKGTKKKFELFV	TQEGDGKGDKDGKDKGTKKKFELFV	1.0	10.0	unscreened	-	4253_X:150908188-150908188 G>A_TQEGDGKGDKDGKDKGTKKKFELFV
1:34677952-34677952 G>A	0.0	4253	MELANOMA	-	-	-	-	C1orf94	NM_032884,p.D366N|ENST00000373374,p.D366N|uc001bxs.4,p.D366N|uc001bxt.3,p.D556N|ENST00000488417,p.D556N|NM_001134734,p.D556N	protein_coding	uc001bxt.3	nonsynonymous SNV	exon6	c.G1666A	p.D556N	QRTPPKMSANPRDPPLMAGDGPQYL	QRTPPKMSANPRNPPLMAGDGPQYL	1.0	6.0	unscreened	-	4253_1:34677952-34677952 G>A_QRTPPKMSANPRNPPLMAGDGPQYL
6:75828810-75828810 C>T	1.0	4253	MELANOMA	-	-	-	-	COL12A1	uc003phs.3,p.G2435S|ENST00000425443,p.G73S|NM_080645,p.G1271S|uc021zbw.1,p.G1271S|ENST00000483888,p.G2435S|ENST00000345356,p.G1271S|ENST00000416123,p.G2435S|NM_004370,p.G2435S|uc003pht.3,p.G1271S|ENST00000322507,p.G2435S|uc021zbv.1,p.G2435S	retained_intron, protein_coding, processed_transcript	uc021zbw.1	nonsynonymous SNV	exon30	c.G3811A	p.G1271S	KNVPKVLVVVTDGRSQDEVKKAALV	KNVPKVLVVVTDSRSQDEVKKAALV	8.0	9.0	unscreened	-	4253_6:75828810-75828810 C>T_KNVPKVLVVVTDSRSQDEVKKAALV
18:44559536-44559536 G>C	0.0	4253	MELANOMA	-	-	-	-	TCEB3B	NM_016427,p.S700R|ENST00000332567,p.S700R|uc002lcr.1,p.S700R	protein_coding	uc002lcr.1	nonsynonymous SNV	exon1	c.C2100G	p.S700R	QSSSGGGRDSSSSILRWLPEKRANP	QSSSGGGRDSSSRILRWLPEKRANP	1.0	9.0	unscreened	-	4253_18:44559536-44559536 G>C_QSSSGGGRDSSSRILRWLPEKRANP
3:89480412-89480412 G>A	0.0	4253	MELANOMA	-	-	ID=COSM198048;OCCURENCE=1(endometrium),1(large_intestine)	2	EPHA3	uc003dqy.3,p.R750Q|ENST00000494014,p.R750Q|NM_005233,p.R750Q|uc021xbf.1,p.R750Q|ENST00000336596,p.R750Q	protein_coding	uc021xbf.1	nonsynonymous SNV	exon13	c.G2249A	p.R750Q	SDMGYVHRDLAARNILINSNLVCKV	SDMGYVHRDLAAQNILINSNLVCKV	5.0	3.0	unscreened	-	4253_3:89480412-89480412 G>A_SDMGYVHRDLAAQNILINSNLVCKV
1:202126924-202126924 C>T	0.0	4253	MELANOMA	-	-	-	-	PTPN7	ENST00000435759,p.R118Q|ENST00000496197,p.R94Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000496197	nonsynonymous SNV	exon4	c.G281A	p.R94Q	RILEDPFKLCQPRRPGHPWPRLQGP	RILEDPFKLCQPQRPGHPWPRLQGP	8.0	3.0	unscreened	-	4253_1:202126924-202126924 C>T_RILEDPFKLCQPQRPGHPWPRLQGP
2:197086952-197086952 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1014374;OCCURENCE=1(endometrium)	-	HECW2	uc002utl.1,p.E1021K|uc002utm.1,p.E1377K|NM_020760,p.E1377K|ENST00000409111,p.E1021K|ENST00000260983,p.E1377K	retained_intron, protein_coding	uc002utm.1	nonsynonymous SNV	exon24	c.G4129A	p.E1377K	IHDILDLTFTVNEEVFGQITERELK	IHDILDLTFTVNKEVFGQITERELK	5.0	2.0	unscreened	-	4253_2:197086952-197086952 C>T_IHDILDLTFTVNKEVFGQITERELK
20:5294922-5294922 C>T	0.0	4253	MELANOMA	-	-	-	-	PROKR2	ENST00000217270,p.D32N|ENST00000546004,p.D32N|uc010zqy.2,p.D32N|uc010zqx.2,p.D32N|uc010zqw.2,p.D32N|NM_144773,p.D32N	protein_coding	uc010zqy.2	nonsynonymous SNV	exon2	c.G94A	p.D32N	HASSLSFNFSYGDYDLPMDEDEDMT	HASSLSFNFSYGNYDLPMDEDEDMT	2.0	5.0	unscreened	-	4253_20:5294922-5294922 C>T_HASSLSFNFSYGNYDLPMDEDEDMT
5:35759742-35759742 C>T	0.0	4253	MELANOMA	-	-	-	-	SPEF2	uc003jjo.3,p.P1181S|uc003jjp.1,p.P667S|ENST00000440995,p.P1176S|NM_024867,p.P1181S|ENST00000356031,p.P1181S	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjp.1	nonsynonymous SNV	exon15	c.C1999T	p.P667S	LQDYYWGMESKIPVEDNKRFTRIPL	LQDYYWGMESKISVEDNKRFTRIPL	8.0	5.0	unscreened	-	4253_5:35759742-35759742 C>T_LQDYYWGMESKISVEDNKRFTRIPL
2:179436346-179436346 C>T	0.0	4253	MELANOMA	-	-	-	-	TTN	uc021vta.2,p.G15898E|NM_001267550,p.G24838E|uc031rqc.1,p.G24838E|NM_133437,p.G15965E|ENST00000591111,p.G23197E|ENST00000342175,p.G15965E|ENST00000589042,p.G24838E|ENST00000359218,p.G15898E|NM_133378,p.G22270E|ENST00000460472,p.G15773E|ENST00000342992,p.G22270E|uc021vtb.2,p.G15773E|uc021vsz.2,p.G15965E|NM_003319,p.G15773E|NM_001256850,p.G23197E|uc021vsy.2,p.G22270E|uc031rqd.1,p.G23197E|NM_133432,p.G15898E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G69590A	p.G23197E	ITLSWGPPKYDGGSSINNYIVEKRD	ITLSWGPPKYDGESSINNYIVEKRD	5.0	3.0	unscreened	-	4253_2:179436346-179436346 C>T_ITLSWGPPKYDGESSINNYIVEKRD
6:136589395-136589395 C>T	0.0	4253	MELANOMA	-	-	-	2	BCLAF1	NM_001077441,p.E595K|uc003qgy.1,p.E766K|uc011ede.1,p.E766K|uc011edb.1,p.E96K|ENST00000531224,p.E768K|ENST00000527759,p.E766K|NM_001077440,p.E766K|ENST00000353331,p.E766K|ENST00000392348,p.E766K|ENST00000530767,p.E595K|ENST00000527536,p.E768K|uc003qgx.1,p.E768K|NM_014739,p.E768K|uc003qgw.1,p.E595K|NM_001301038,p.E766K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ede.1	nonsynonymous SNV	exon10	c.G2296A	p.E766K	ASPSSPSSREEKESKKEREEEFKTH	ASPSSPSSREEKKSKKEREEEFKTH	10.0	1.0	unscreened	-	4253_6:136589395-136589395 C>T_ASPSSPSSREEKKSKKEREEEFKTH
19:10206870-10206870 G>A	0.0	4253	MELANOMA	-	-	-	-	ANGPTL6	NM_031917,p.P124S|uc002mmx.2,p.P124S|ENST00000589181,p.P124S|uc002mmy.1,p.P124S|ENST00000592641,p.P124S|ENST00000253109,p.P124S	retained_intron, protein_coding	uc002mmy.1	nonsynonymous SNV	exon2	c.C370T	p.P124S	AQLQHEAGPGAGPGADLGAEPAAAL	AQLQHEAGPGAGSGADLGAEPAAAL	7.0	1.0	unscreened	-	4253_19:10206870-10206870 G>A_AQLQHEAGPGAGSGADLGAEPAAAL
2:116510803-116510803 G>A	1.0	4253	MELANOMA	-	-	-	-	DPP10	NM_001178037,p.R331K|uc002tlf.2,p.R328K|ENST00000409163,p.R285K|ENST00000393147,p.R339K|uc002tlc.2,p.R331K|uc002tlb.2,p.R285K|uc002tla.2,p.R335K|ENST00000410059,p.R335K|ENST00000310323,p.R328K|NM_020868,p.R335K|NM_001178036,p.R285K|NM_001004360,p.R328K|uc002tle.3,p.R339K|NM_001178034,p.R339K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tlf.2	nonsynonymous SNV	exon11	c.G983A	p.R328K	MVKWVSNTKTVVRWLNRAQNISILT	MVKWVSNTKTVVKWLNRAQNISILT	7.0	4.0	unscreened	-	4253_2:116510803-116510803 G>A_MVKWVSNTKTVVKWLNRAQNISILT
11:44297083-44297083 G>A	0.0	4253	MELANOMA	-	-	-	-	ALX4	NM_021926,p.L198F|uc001myb.3,p.L198F|ENST00000329255,p.L198F	protein_coding	uc001myb.3	nonsynonymous SNV	exon2	c.C592T	p.L198F	GVKGPQDRASSDLPSPLEKADSESN	GVKGPQDRASSDFPSPLEKADSESN	2.0	2.0	unscreened	-	4253_11:44297083-44297083 G>A_GVKGPQDRASSDFPSPLEKADSESN
8:17401110-17401110 G>A	0.0	4253	MELANOMA	-	-	-	-	SLC7A2	ENST00000522656,p.E88K|NM_001164771,p.E128K|ENST00000004531,p.E128K|NM_003046,p.E128K|ENST00000470360,p.E128K|NM_001008539,p.E88K|uc011kye.2,p.E128K|uc011kyc.2,p.E88K|uc011kyd.2,p.E128K|ENST00000398090,p.E128K|ENST00000494857,p.E88K	protein_coding	uc011kye.2	nonsynonymous SNV	exon2	c.G382A	p.E128K	ALASVMAGLCYAEFGARVPKTGSAY	ALASVMAGLCYAKFGARVPKTGSAY	3.0	4.0	unscreened	-	4253_8:17401110-17401110 G>A_ALASVMAGLCYAKFGARVPKTGSAY
8:139163782-139163782 T>C	0.0	4253	MELANOMA	-	-	-	2	FAM135B	NM_015912,p.K979R|ENST00000395297,p.K979R|uc003yva.3,p.K541R|uc003yuy.3,p.K979R|ENST00000467365,p.K289R|uc003yux.3,p.K880R|ENST00000276737,p.K979R|uc003yvb.3,p.K541R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yvb.3	nonsynonymous SNV	exon1	c.A1622G	p.K541R	AFNRGVNAFPEAKHKAGTVCPTVTH	AFNRGVNAFPEARHKAGTVCPTVTH	4.0	2.0	unscreened	-	4253_8:139163782-139163782 T>C_AFNRGVNAFPEARHKAGTVCPTVTH
X:47835882-47835882 A>T	0.0	4253	MELANOMA	-	-	-	-	ZNF182	ENST00000396965,p.I535N|ENST00000305127,p.I535N|uc004dir.3,p.I535N|ENST00000376943,p.I516N|NM_001178099,p.I535N|uc004dit.3,p.I535N|NM_001007088,p.I516N|uc004dis.3,p.I516N|NM_006962,p.I535N	protein_coding	uc004dit.3	nonsynonymous SNV	exon7	c.T1604A	p.I535N	FREKSKLIIHQRIHTGEKPYECPVC	FREKSKLIIHQRNHTGEKPYECPVC	6.0	1.0	unscreened	-	4253_X:47835882-47835882 A>T_FREKSKLIIHQRNHTGEKPYECPVC
1:197390354-197390354 G>A	0.0	4253	MELANOMA	-	-	-	-	CRB1	uc009wza.3,p.G354R|uc001gtz.3,p.G466R|NM_201253,p.G466R|ENST00000543483,p.G165R|uc010poz.2,p.G397R|ENST00000535699,p.G397R|ENST00000367400,p.G466R|uc010ppb.2,p.G466R|ENST00000367399,p.G354R|ENST00000538660,p.G466R|ENST00000484075,p.G466R|uc001gub.1,p.G115R|NM_001257966,p.G466R|NM_001193640,p.G354R|NM_001257965,p.G397R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ppb.2	nonsynonymous SNV	exon6	c.G1396A	p.G466R	GTCIPHFQDGQHGFSCLCPSGYTGS	GTCIPHFQDGQHRFSCLCPSGYTGS	3.0	2.0	unscreened	-	4253_1:197390354-197390354 G>A_GTCIPHFQDGQHRFSCLCPSGYTGS
2:166848612-166848612 C>T	0.0	4253	MELANOMA	-	-	-	-	SCN1A	uc002udo.4,p.G1725S|NM_001202435,p.G1725S|NM_001165964,p.G1697S|NM_006920,p.G1714S|ENST00000423058,p.G1725S|ENST00000409050,p.G1697S|uc021vsb.1,p.G1714S|ENST00000303395,p.G1725S|NM_001165963,p.G1725S|ENST00000375405,p.G1714S|uc010fpk.3,p.G1697S	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon26	c.G5140A	p.G1714S	SMICLFQITTSAGWDGLLAPILNSK	SMICLFQITTSASWDGLLAPILNSK	3.0	8.0	unscreened	-	4253_2:166848612-166848612 C>T_SMICLFQITTSASWDGLLAPILNSK
19:39694713-39694713 T>C	0.0	4253	MELANOMA	-	-	-	-	SYCN	NM_001080468,p.E61G|ENST00000318438,p.E61G|uc002okr.2,p.E61G	protein_coding	uc002okr.2	nonsynonymous SNV	exon1	c.A182G	p.E61G	YENCCGGAELSLESGADLPYLPSNW	YENCCGGAELSLGSGADLPYLPSNW	1.0	3.0	unscreened	-	4253_19:39694713-39694713 T>C_YENCCGGAELSLGSGADLPYLPSNW
12:103234234-103234234 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1706138;OCCURENCE=1(skin)	-	PAH	NM_000277,p.R420K|ENST00000307000,p.R415K|ENST00000553106,p.R420K|uc001tjq.1,p.R420K	retained_intron, protein_coding, processed_transcript	uc001tjq.1	nonsynonymous SNV	exon12	c.G1259A	p.R420K	RPFSVRYDPYTQRIEVLDNTQQLKI	RPFSVRYDPYTQKIEVLDNTQQLKI	3.0	7.0	unscreened	-	4253_12:103234234-103234234 C>T_RPFSVRYDPYTQKIEVLDNTQQLKI
14:62462832-62462832 G>A	0.0	4253	MELANOMA	-	-	-	-	SYT16	NM_031914,p.G32E|uc010tsd.1,p.G32E|ENST00000446982,p.G32E|ENST00000555409,p.G32E|uc001xfu.1,p.G32E|ENST00000430451,p.G32E	protein_coding, nonsense_mediated_decay	uc010tsd.1	nonsynonymous SNV	exon2	c.G95A	p.G32E	WISRVYEALQQAGDMLSASLVNISK	WISRVYEALQQAEDMLSASLVNISK	4.0	9.0	unscreened	-	4253_14:62462832-62462832 G>A_WISRVYEALQQAEDMLSASLVNISK
6:30917850-30917850 C>A	0.0	4253	MELANOMA	-	-	-	-	DPCR1	NM_080870,p.P537T|uc003nsg.2,p.P537T|ENST00000462446,p.P537T	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.C1609A	p.P537T	RTPLANENTTPSPAEPTENRERTAN	RTPLANENTTPSTAEPTENRERTAN	1.0	1.0	unscreened	-	4253_6:30917850-30917850 C>A_RTPLANENTTPSTAEPTENRERTAN
11:118765007-118765007 C>T	0.0	4253	MELANOMA	-	-	ID=COSM224410;OCCURENCE=1(skin)	-	CXCR5	ENST00000292174,p.P252S|NM_032966,p.P207S|uc001pue.4,p.P252S|NM_001716,p.P252S|uc001puf.3,p.P207S	protein_coding	uc001puf.3	nonsynonymous SNV	exon1	c.C619T	p.P207S	GVVHRLRQAQRRPQRQKAVRVAILV	GVVHRLRQAQRRSQRQKAVRVAILV	3.0	3.0	unscreened	-	4253_11:118765007-118765007 C>T_GVVHRLRQAQRRSQRQKAVRVAILV
8:3267100-3267100 G>A	0.0	4253	MELANOMA	-	-	-	-	CSMD1	ENST00000602557,p.P531L|uc022aqr.1,p.P530L|NM_033225,p.P530L|ENST00000400186,p.P531L|ENST00000542608,p.P530L|ENST00000537824,p.P530L|ENST00000520002,p.P531L|ENST00000539096,p.P530L|ENST00000602723,p.P531L	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon13	c.C1589T	p.P530L	VYQEIEKGGCGDPGIPAYGKRTGSS	VYQEIEKGGCGDLGIPAYGKRTGSS	2.0	4.0	unscreened	-	4253_8:3267100-3267100 G>A_VYQEIEKGGCGDLGIPAYGKRTGSS
6:32334079-32334079 C>T	0.0	4253	MELANOMA	-	-	-	-	C6orf10	ENST00000375007,p.G56E	protein_coding	ENST00000375007	nonsynonymous SNV	exon5	c.G167A	p.G56E	QSARLLDYEDGRGSRHAYSTQSGNL	QSARLLDYEDGRESRHAYSTQSGNL	2.0	5.0	unscreened	-	4253_6:32334079-32334079 C>T_QSARLLDYEDGRESRHAYSTQSGNL
6:93974318-93974318 C>T	0.0	4253	MELANOMA	-	-	-	2	EPHA7	NM_004440,p.G579E|uc003pof.3,p.G574E|NM_001288629,p.G574E|uc011eac.2,p.G579E|ENST00000369303,p.G579E|uc003poe.3,p.G579E	protein_coding	uc011eac.2	nonsynonymous SNV	exon8	c.G1736A	p.G579E	IILVFMVFGFIIGRRHCGYSKADQE	IILVFMVFGFIIERRHCGYSKADQE	3.0	9.0	unscreened	-	4253_6:93974318-93974318 C>T_IILVFMVFGFIIERRHCGYSKADQE
20:17639683-17639683 C>A	1.0	4253	MELANOMA	-	-	-	-	RRBP1	ENST00000246043,p.K490N|uc021waw.1,p.K490N|ENST00000377813,p.K490N	protein_coding, processed_transcript	uc021waw.1	nonsynonymous SNV	exon1	c.G1470T	p.K490N	QGKKAEGAQNQGKKAEGAQNQGKKA	QGKKAEGAQNQGNKAEGAQNQGKKA	10.0	1.0	unscreened	-	4253_20:17639683-17639683 C>A_QGKKAEGAQNQGNKAEGAQNQGKKA
4:126397404-126397404 G>A	0.0	4253	MELANOMA	-	-	-	1	FAT4	uc011cgp.2,p.D2359N|NM_001291303,p.D4098N|NM_024582,p.D4096N|uc003ifi.1,p.D1574N|ENST00000335110,p.D2359N|uc003ifj.4,p.D4096N|NM_001291285,p.D4098N|ENST00000394329,p.D4096N	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon11	c.G7075A	p.D2359N	PGYCTVSNVAVSDDWTLDVQPNRVT	PGYCTVSNVAVSNDWTLDVQPNRVT	4.0	6.0	unscreened	-	4253_4:126397404-126397404 G>A_PGYCTVSNVAVSNDWTLDVQPNRVT
11:93097398-93097398 G>A	0.0	4253	MELANOMA	-	-	-	-	CCDC67	uc001pdp.3,p.E124K|uc001pdq.3,p.E124K|NM_181645,p.E124K|ENST00000531792,p.E124K|ENST00000531448,p.E124K|ENST00000530862,p.E124K|uc001pdo.1,p.E124K|ENST00000532819,p.E124K|ENST00000534747,p.E124K|ENST00000298050,p.E124K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001pdq.3	nonsynonymous SNV	exon5	c.G370A	p.E124K	LHQMKQNKVPRKELPHLKEEIPFEL	LHQMKQNKVPRKKLPHLKEEIPFEL	5.0	9.0	unscreened	-	4253_11:93097398-93097398 G>A_LHQMKQNKVPRKKLPHLKEEIPFEL
13:37598504-37598504 G>A	1.0	4253	MELANOMA	-	-	-	-	SUPT20H	uc001uwh.3,p.P470S|NM_001278482,p.P470S|NM_017569,p.P470S|ENST00000360252,p.P470S|uc010tes.1,p.P433S|uc001uwl.1,p.P469S|ENST00000495071,p.P433S|NM_001014286,p.P469S|NM_001278481,p.P470S|ENST00000490716,p.P457S|uc001uwg.3,p.P469S|ENST00000475892,p.P469S|ENST00000464744,p.P470S|ENST00000356185,p.P470S|ENST00000350612,p.P469S|uc010abt.3,p.P470S|uc001uwk.3,p.P469S|uc001uwj.3,p.P470S|ENST00000542180,p.P433S|uc001uwi.3,p.P469S|NM_001278480,p.P469S|uc001uwf.3,p.P47S	retained_intron, protein_coding, processed_transcript	uc010tes.1	nonsynonymous SNV	exon16	c.C1297T	p.P433S	KGVKHRPPPIKLPSSSGNSSSGNYF	KGVKHRPPPIKLSSSSGNSSSGNYF	9.0	5.0	unscreened	-	4253_13:37598504-37598504 G>A_KGVKHRPPPIKLSSSSGNSSSGNYF
12:2764343-2764343 A>C	0.0	4253	MELANOMA	-	-	-	-	CACNA1C	NM_001129842,p.T1391P|uc001qkn.2,p.T1391P|uc001qku.2,p.T1391P|NM_000719,p.T1391P|ENST00000399634,p.T1391P|uc009zdw.1,p.T1413P|uc001qko.2,p.T1411P|ENST00000399641,p.T1391P|ENST00000399597,p.T1391P|uc001qkp.2,p.T1391P|NM_001129836,p.T1408P|ENST00000347598,p.T1439P|uc001qkr.2,p.T1408P|NM_001129829,p.T1413P|NM_001129827,p.T1439P|uc001qkf.2,p.T1380P|NM_001129833,p.T1391P|ENST00000399617,p.T1391P|uc001qks.2,p.T1391P|NM_001129844,p.T1388P|ENST00000402845,p.T1391P|uc001qjz.2,p.T1391P|ENST00000399621,p.T1391P|ENST00000399629,p.T1408P|uc009zdu.1,p.T1439P|uc001qkt.2,p.T1391P|uc001qkc.2,p.T1391P|ENST00000399606,p.T1411P|ENST00000399591,p.T1380P|ENST00000399637,p.T1391P|uc001qke.2,p.T1380P|uc001qkm.2,p.T1380P|ENST00000344100,p.T1413P|NM_001129839,p.T1378P|NM_001129830,p.T1391P|NM_001167625,p.T1380P|NM_001129831,p.T1419P|NM_001129843,p.T1391P|NM_001129838,p.T1380P|NM_001167624,p.T1391P|ENST00000399655,p.T1391P|uc009zdv.1,p.T1388P|uc001qkq.2,p.T1419P|ENST00000327702,p.T1391P|uc001qki.1,p.T1127P|ENST00000399601,p.T1391P|uc001qkk.2,p.T1391P|NM_001129837,p.T1380P|NM_001129846,p.T1380P|ENST00000399644,p.T1391P|NM_001129832,p.T1411P|uc001qkl.2,p.T1439P|uc001qkb.2,p.T1391P|ENST00000399603,p.T1391P|NM_001129835,p.T1391P|NM_001167623,p.T1391P|NM_001129840,p.T1391P|ENST00000399595,p.T1380P|ENST00000406454,p.T1391P|uc001qkd.2,p.T1391P|uc001qkj.2,p.T1391P|ENST00000399649,p.T1378P|uc001qkg.2,p.T1378P|uc010sea.1,p.T82P|ENST00000399638,p.T1419P|ENST00000335762,p.T1416P|NM_001129841,p.T1391P|NM_199460,p.T1439P|NM_001129834,p.T1391P|uc001qkh.2,p.T1380P	retained_intron, protein_coding, processed_transcript	uc010sea.1	nonsynonymous SNV	exon4	c.A244C	p.T82P	MQVFGKIALNDTTEINRNNNFQTFP	MQVFGKIALNDTPEINRNNNFQTFP	5.0	8.0	unscreened	-	4253_12:2764343-2764343 A>C_MQVFGKIALNDTPEINRNNNFQTFP
9:140772486-140772486 C>T	0.0	4253	MELANOMA	-	-	-	-	CACNA1B	uc031tfy.1,p.P34L|ENST00000371363,p.P34L|ENST00000371357,p.P34L|ENST00000371355,p.P34L|uc004cog.3,p.P34L|ENST00000371372,p.P34L|uc031tfz.1,p.P34L|NM_001243812,p.P34L|NM_000718,p.P34L|ENST00000277551,p.P34L|uc022bqn.1,p.P34L	protein_coding	uc031tfz.1	nonsynonymous SNV	exon1	c.C101T	p.P34L	RGGGAGGAGGPGPGGLQPGQRVLYK	RGGGAGGAGGPGLGGLQPGQRVLYK	6.0	2.0	unscreened	-	4253_9:140772486-140772486 C>T_RGGGAGGAGGPGLGGLQPGQRVLYK
1:179504035-179504040 AAGAAC>-	0.0	4253	MELANOMA	-	-	ID=COSM146262;OCCURENCE=2(haematopoietic_and_lymphoid_tissue)	-	AXDND1	uc021pfj.1,p.874_876del|ENST00000367618,p.990_992del|uc001gmo.3,p.990_992del|ENST00000434088,p.850_852del|NM_144696,p.990_992del	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pfj.1	nonframeshift deletion	exon21	c.2621_2626del	p.874_876del	KENQDEREVKEEEEQQEEEEVRSAE	KENQDEREVKEEEQEEEEVRSAENS	4.0	1.0	unscreened	-	4253_1:179504035-179504040 AAGAAC>-_KENQDEREVKEEEQEEEEVRSAENS
20:61470068-61470068 G>A	1.0	4253	MELANOMA	-	-	-	-	COL9A3	uc002ydn.3,p.A101T|uc002ydm.3,p.A607T|ENST00000343916,p.A607T|NM_001853,p.A607T	retained_intron, protein_coding, processed_transcript	uc002ydn.3	nonsynonymous SNV	exon3	c.G301A	p.A101T	RGNQGDRGDKGAAGAGLDGPEGDQG	RGNQGDRGDKGATGAGLDGPEGDQG	9.0	9.0	unscreened	-	4253_20:61470068-61470068 G>A_RGNQGDRGDKGATGAGLDGPEGDQG
2:169791926-169791926 C>T	0.0	4253	MELANOMA	-	-	-	-	ABCB11	uc010zda.1,p.E384K|ENST00000263817,p.E942K|uc010zdb.1,p.E418K|NM_003742,p.E942K|uc002ueo.1,p.E942K	retained_intron, protein_coding, nonsense_mediated_decay	uc010zdb.1	nonsynonymous SNV	exon10	c.G1252A	p.E418K	KQALEMVGQITNEALSNIRTVAGIG	KQALEMVGQITNKALSNIRTVAGIG	1.0	8.0	unscreened	-	4253_2:169791926-169791926 C>T_KQALEMVGQITNKALSNIRTVAGIG
10:95790892-95790892 G>A	0.0	4253	MELANOMA	-	-	-	-	PLCE1	ENST00000371380,p.S30N|NM_016341,p.S30N|NM_001288989,p.S30N|uc001kjk.3,p.S30N|uc010qnx.2,p.S30N|ENST00000260766,p.S30N	protein_coding, processed_transcript	uc010qnx.2	nonsynonymous SNV	exon1	c.G89A	p.S30N	KVVSAQSAADESSEKVSDINISKAH	KVVSAQSAADESNEKVSDINISKAH	7.0	9.0	unscreened	-	4253_10:95790892-95790892 G>A_KVVSAQSAADESNEKVSDINISKAH
1:145415560-145415560 C>T	0.0	4253	MELANOMA	-	-	-	-	HFE2	uc001enk.2,p.P14S|NM_213653,p.P127S|NM_145277,p.P14S|ENST00000336751,p.P127S|ENST00000357836,p.P14S|uc001eni.2,p.P127S	protein_coding	uc001enk.2	nonsynonymous SNV	exon2	c.C40T	p.P14S	IQHNCSRQGPTAPPPPRGPALPGAG	IQHNCSRQGPTASPPPRGPALPGAG	1.0	7.0	unscreened	-	4253_1:145415560-145415560 C>T_IQHNCSRQGPTASPPPRGPALPGAG
19:56466085-56466085 A>G	0.0	4253	MELANOMA	-	-	-	-	NLRP8	uc010etg.3,p.K221E|NM_176811,p.K221E|ENST00000291971,p.K221E|uc002qmh.3,p.K221E|ENST00000590542,p.K221E	protein_coding	uc010etg.3	nonsynonymous SNV	exon3	c.A661G	p.K221E	QGAPGIGKTILAKKVMFEWARNKFY	QGAPGIGKTILAEKVMFEWARNKFY	1.0	8.0	unscreened	-	4253_19:56466085-56466085 A>G_QGAPGIGKTILAEKVMFEWARNKFY
4:38776742-38776742 G>A	0.0	4253	MELANOMA	-	-	-	-	TLR10	NM_001195106,p.S157L|NM_001195107,p.S157L|uc021xnk.1,p.S143L|NM_001017388,p.S157L|uc003gtk.3,p.S157L|NM_001195108,p.S143L|uc021xnm.1,p.S157L|ENST00000506111,p.S157L|uc003gti.3,p.S157L|NM_030956,p.S157L|ENST00000308973,p.S157L|ENST00000361424,p.S157L|uc003gtj.3,p.S157L|ENST00000508334,p.S157L|uc021xnl.1,p.S157L	protein_coding, processed_transcript	uc021xnm.1	nonsynonymous SNV	exon1	c.C470T	p.S157L	EILGLSGAKIQKSDFQKIAHLHLNT	EILGLSGAKIQKLDFQKIAHLHLNT	4.0	6.0	unscreened	-	4253_4:38776742-38776742 G>A_EILGLSGAKIQKLDFQKIAHLHLNT
6:32334079-32334079 C>T	0.0	4253	MELANOMA	-	-	-	-	C6orf10	NM_001286474,p.G56E|NM_006781,p.G56E|uc011dpz.2,p.G56E|ENST00000533191,p.G56E|ENST00000447241,p.G56E|ENST00000375015,p.G56E|uc021yvt.1,p.G56E|uc021yvs.1,p.G56E|ENST00000534588,p.G56E|uc021yvu.1,p.G56E	protein_coding	uc021yvu.1	nonsynonymous SNV	exon5	c.G167A	p.G56E	QSARLLDYEDGRGSRHAYSTQSDTS	QSARLLDYEDGRESRHAYSTQSDTS	2.0	5.0	unscreened	-	4253_6:32334079-32334079 C>T_QSARLLDYEDGRESRHAYSTQSDTS
1:879365-879365 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1602747;OCCURENCE=2(liver)	-	SAMD11	uc031pjn.1,p.G131S|uc031pkj.1,p.G284S|uc031pjs.1,p.G569S|uc031pki.1,p.G283S	retained_intron, protein_coding, processed_transcript	uc031pkj.1	nonsynonymous SNV	exon8	c.G850A	p.G284S	PRGSATAATNPAGPGARTRHRRAAL	PRGSATAATNPASPGARTRHRRAAL	6.0	4.0	unscreened	-	4253_1:879365-879365 G>A_PRGSATAATNPASPGARTRHRRAAL
19:9073342-9073342 C>T	0.0	4253	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.E4702K|uc002mkp.3,p.E4702K|NM_024690,p.E4702K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G14104A	p.E4702K	SKIPLALDTSTLETSAGTPSVVTEG	SKIPLALDTSTLKTSAGTPSVVTEG	2.0	3.0	unscreened	-	4253_19:9073342-9073342 C>T_SKIPLALDTSTLKTSAGTPSVVTEG
12:50746236-50746236 G>T	0.0	4253	MELANOMA	-	-	-	-	FAM186A	ENST00000543111,p.T1460N|ENST00000327337,p.T1460N|NM_001145475,p.T1460N|uc001rwl.2,p.T1460N|uc010smt.1,p.T1238N	protein_coding, nonsense_mediated_decay	uc010smt.1	nonsynonymous SNV	exon1	c.C3713A	p.T1238N	TAQQAQELGITLTPQQAQELGIPLT	TAQQAQELGITLNPQQAQELGIPLT	1.0	1.0	unscreened	-	4253_12:50746236-50746236 G>T_TAQQAQELGITLNPQQAQELGIPLT
1:156551506-156551506 G>A	0.0	4253	MELANOMA	-	-	-	-	TTC24	uc021pbf.1,p.G117D|ENST00000368237,p.G117D|NM_001105669,p.G117D|ENST00000368236,p.G117D	protein_coding, processed_transcript	uc021pbf.1	nonsynonymous SNV	exon2	c.G350A	p.G117D	AHPEEKAQGRRHGDQCFNVALAYHA	AHPEEKAQGRRHDDQCFNVALAYHA	2.0	7.0	unscreened	-	4253_1:156551506-156551506 G>A_AHPEEKAQGRRHDDQCFNVALAYHA
3:48606818-48606818 G>A	1.0	4253	MELANOMA	-	-	-	-	COL7A1	ENST00000328333,p.P2559L|NM_000094,p.P2559L|ENST00000454817,p.P2527L|uc003ctz.2,p.P2559L	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon102	c.C7676T	p.P2559L	DGDKGPRGDNGDPGDKGSKGEPGDK	DGDKGPRGDNGDLGDKGSKGEPGDK	9.0	1.0	unscreened	-	4253_3:48606818-48606818 G>A_DGDKGPRGDNGDLGDKGSKGEPGDK
4:96762295-96762295 G>A	0.0	4253	MELANOMA	-	-	-	-	PDHA2	uc003htr.4,p.E332K|ENST00000295266,p.E332K|NM_005390,p.E332K	protein_coding	uc003htr.4	nonsynonymous SNV	exon1	c.G994A	p.E332K	DRMVNSKLATVEELKEIGAEVRKEI	DRMVNSKLATVEKLKEIGAEVRKEI	1.0	6.0	unscreened	-	4253_4:96762295-96762295 G>A_DRMVNSKLATVEKLKEIGAEVRKEI
7:150174830-150174830 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1449174;OCCURENCE=1(large_intestine)	-	GIMAP8	ENST00000307271,p.E654K|NM_175571,p.E654K|uc003whj.3,p.E654K	protein_coding	uc003whj.3	nonsynonymous SNV	exon5	c.G1960A	p.E654K	KLIKNVQEMSQAEKLLKNLIGILQ	KLIKNVQEMSQAKKLLKNLIGILQ	7.0	3.0	unscreened	-	4253_7:150174830-150174830 G>A_KLIKNVQEMSQAKKLLKNLIGILQ
14:104570699-104570699 G>A	0.0	4253	MELANOMA	-	-	-	-	ASPG	ENST00000455920,p.G271E|uc001yoo.2,p.G299E|uc001yoq.2,p.G271E|NM_001080464,p.G271E|uc001yor.2,p.G271E|ENST00000551177,p.G271E|ENST00000546892,p.G271E	retained_intron, protein_coding, processed_transcript	uc001yor.2	nonsynonymous SNV	exon8	c.G812A	p.G271E	PLKGVVMETFGSGNGPTKPDLLQEL	PLKGVVMETFGSENGPTKPDLLQEL	4.0	1.0	unscreened	-	4253_14:104570699-104570699 G>A_PLKGVVMETFGSENGPTKPDLLQEL
12:32975562-32975562 T>C	0.0	4253	MELANOMA	-	-	-	-	PKP2	uc001rlj.4,p.T604A|uc010skj.2,p.T560A|ENST00000070846,p.T604A|NM_004572,p.T604A|NM_001005242,p.T560A|ENST00000340811,p.T560A|uc001rlk.4,p.T560A	retained_intron, protein_coding, processed_transcript	uc010skj.2	nonsynonymous SNV	exon8	c.A1678G	p.T560A	GTIADYQPDDKATENCVCILHNLSY	GTIADYQPDDKAAENCVCILHNLSY	5.0	8.0	unscreened	-	4253_12:32975562-32975562 T>C_GTIADYQPDDKAAENCVCILHNLSY
6:32334079-32334079 C>T	0.0	4253	MELANOMA	-	-	-	-	C6orf10	NM_001286475,p.G56E|uc011dpx.2,p.G56E|ENST00000527965,p.G56E|ENST00000442822,p.G56E|uc021yvv.1,p.G56E	protein_coding	uc021yvv.1	nonsynonymous SNV	exon5	c.G167A	p.G56E	QSARLLDYEDGRGSRHAYSTQSERS	QSARLLDYEDGRESRHAYSTQSERS	2.0	5.0	unscreened	-	4253_6:32334079-32334079 C>T_QSARLLDYEDGRESRHAYSTQSERS
19:6754629-6754629 C>T	0.0	4253	MELANOMA	-	-	-	-	SH2D3A	ENST00000597687,p.E238K	retained_intron, protein_coding, processed_transcript	ENST00000597687	nonsynonymous SNV	exon6	c.G712A	p.E238K	SPWTPLEVGTAGE	SPWTPLEVGTAGK	4.0	10.0	unscreened	-	4253_19:6754629-6754629 C>T_SPWTPLEVGTAGK
1:206320276-206320276 G>A	0.0	4253	MELANOMA	-	-	ID=COSM3736713,COSM3736712;OCCURENCE=1(skin)	-	CTSE	NM_148964,p.G140E|uc001hdu.3,p.G140E|ENST00000358184,p.G140E|uc001hdv.3,p.G140E|NM_001910,p.G140E|ENST00000361052,p.G140E|ENST00000432969,p.G65E|uc010prs.2,p.G65E|ENST00000360218,p.G140E	protein_coding, processed_transcript	uc010prs.2	nonsynonymous SNV	exon3	c.G194A	p.G65E	YSQPGQSFSIQYGTGSLSGIIGADQ	YSQPGQSFSIQYETGSLSGIIGADQ	4.0	2.0	unscreened	-	4253_1:206320276-206320276 G>A_YSQPGQSFSIQYETGSLSGIIGADQ
19:50155208-50155208 G>A	1.0	4253	MELANOMA	-	-	-	-	SCAF1	ENST00000360565,p.R521Q|uc002poq.3,p.R521Q|NM_021228,p.R521Q	protein_coding	uc002poq.3	nonsynonymous SNV	exon7	c.G1562A	p.R521Q	AAAGPPTRKKSRRERKRSGEAKEAA	AAAGPPTRKKSRQERKRSGEAKEAA	8.0	1.0	unscreened	-	4253_19:50155208-50155208 G>A_AAAGPPTRKKSRQERKRSGEAKEAA
2:152409914-152409914 C>T	0.0	4253	MELANOMA	-	-	-	-	NEB	ENST00000397345,p.D6577N|NM_001164508,p.D6577N|NM_001164507,p.D6577N|ENST00000603639,p.D6577N|uc002txu.3,p.D6577N|ENST00000413693,p.D1307N|ENST00000409198,p.D4876N|uc031rpp.1,p.D6577N|uc021vrd.1,p.D4876N|ENST00000172853,p.D4876N|ENST00000427231,p.D6577N|ENST00000604864,p.D6577N|uc002txr.3,p.D1342N|uc021vrb.1,p.D4876N|NM_001271208,p.D6577N|uc021vrc.1,p.D6577N	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon127	c.G19729A	p.D6577N	ILHAKHAYDLRDDIKYKAHMLKTRN	ILHAKHAYDLRDNIKYKAHMLKTRN	6.0	7.0	unscreened	-	4253_2:152409914-152409914 C>T_ILHAKHAYDLRDNIKYKAHMLKTRN
3:54959123-54959123 C>T	0.0	4253	MELANOMA	0.0009	-	-	-	LRTM1	ENST00000273286,p.E43K|uc003dhl.3,p.E43K|NM_020678,p.E43K	protein_coding	uc003dhl.3	nonsynonymous SNV	exon2	c.G127A	p.E43K	TNFVDCSQQGLAEIPSHLPPQTRTL	TNFVDCSQQGLAKIPSHLPPQTRTL	1.0	9.0	unscreened	-	4253_3:54959123-54959123 C>T_TNFVDCSQQGLAKIPSHLPPQTRTL
8:39581405-39581405 G>A	0.0	4253	MELANOMA	-	-	-	-	ADAM18	uc003xni.3,p.R719K|ENST00000265707,p.R719K|ENST00000379866,p.R695K|ENST00000541111,p.R133K|uc010lwx.3,p.R695K|NM_014237,p.R719K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lwx.3	nonsynonymous SNV	exon18	c.G2084A	p.R695K	IFKRNEISKSCNRENAEYNRNSSVV	IFKRNEISKSCNKENAEYNRNSSVV	2.0	8.0	unscreened	-	4253_8:39581405-39581405 G>A_IFKRNEISKSCNKENAEYNRNSSVV
20:35261076-35261076 C>T	0.0	4253	MELANOMA	-	-	-	-	SLA2	uc002xfv.3,p.E102K|uc002xfu.3,p.E102K|ENST00000360672,p.E102K|NM_175077,p.E102K|ENST00000262866,p.E102K|NM_032214,p.E102K	protein_coding	uc002xfv.3	nonsynonymous SNV	exon5	c.G304A	p.E102K	VSHGWLYEGLSREKAEELLLLPGNP	VSHGWLYEGLSRKKAEELLLLPGNP	6.0	4.0	unscreened	-	4253_20:35261076-35261076 C>T_VSHGWLYEGLSRKKAEELLLLPGNP
16:82124590-82124590 C>T	0.0	4253	MELANOMA	-	-	-	-	HSD17B2	uc002fgv.3,p.L250F|ENST00000199936,p.L250F|ENST00000566838,p.L126F|NM_002153,p.L250F|ENST00000568090,p.L114F	protein_coding, TEC	uc002fgv.3	nonsynonymous SNV	exon4	c.C748T	p.L250F	AVTMFSSVMRLELSKWGIKVASIQP	AVTMFSSVMRLEFSKWGIKVASIQP	3.0	6.0	unscreened	-	4253_16:82124590-82124590 C>T_AVTMFSSVMRLEFSKWGIKVASIQP
19:22362856-22362856 G>A	0.0	4253	MELANOMA	-	-	-	-	ZNF676	NM_001001411,p.H555Y|uc002nqs.1,p.H555Y|ENST00000397121,p.H555Y	protein_coding	uc002nqs.1	nonsynonymous SNV	exon3	c.C1663T	p.H555Y	SRSSSLTRHKRIHTGEKPYKCEECG	SRSSSLTRHKRIYTGEKPYKCEECG	4.0	1.0	unscreened	-	4253_19:22362856-22362856 G>A_SRSSSLTRHKRIYTGEKPYKCEECG
6:7373469-7373469 G>A	0.0	4253	MELANOMA	-	-	-	-	CAGE1	uc003mxl.2,p.T528M|uc003mxj.3,p.T283M|NM_001170693,p.T528M|ENST00000512691,p.T540M|ENST00000458291,p.T528M|ENST00000338150,p.T528M|ENST00000379918,p.T528M|uc003mxk.2,p.T528M|ENST00000502583,p.T528M|uc021ylc.1,p.T392M|ENST00000512086,p.T528M|ENST00000296742,p.T392M|NM_001170692,p.T528M|NM_205864,p.T392M	protein_coding, processed_transcript, nonsense_mediated_decay	uc021ylc.1	nonsynonymous SNV	exon4	c.C1175T	p.T392M	VRNLQFMSENERTKNIKLQQQINEV	VRNLQFMSENERMKNIKLQQQINEV	1.0	9.0	unscreened	-	4253_6:7373469-7373469 G>A_VRNLQFMSENERMKNIKLQQQINEV
1:13036403-13036403 G>A	0.0	4253	MELANOMA	-	-	-	-	LOC391003,PRAMEF22	NM_001099850,p.E157K|ENST00000376187,p.E159K|uc009vnq.1,p.E159K|NM_001100631,p.E159K	protein_coding	uc009vnq.1	nonsynonymous SNV	exon2	c.G475A	p.E159K	QPLKVFMDVCLKEKFMDEDLSFFSG	QPLKVFMDVCLKKKFMDEDLSFFSG	1.0	1.0	unscreened	-	4253_1:13036403-13036403 G>A_QPLKVFMDVCLKKKFMDEDLSFFSG
2:155265500-155265500 G>A	0.0	4253	MELANOMA	-	-	-	-	GALNT13	uc010foc.1,p.R253K|uc010fod.3,p.R187K|uc002tyt.4,p.R434K|uc002tyr.4,p.R434K|NM_001301627,p.R434K|NM_052917,p.R434K|ENST00000392825,p.R434K|ENST00000409237,p.R434K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fod.3	nonsynonymous SNV	exon5	c.G560A	p.R187K	QIPRRYYSLGEIRNVETNQCLDNMG	QIPRRYYSLGEIKNVETNQCLDNMG	4.0	8.0	unscreened	-	4253_2:155265500-155265500 G>A_QIPRRYYSLGEIKNVETNQCLDNMG
5:70813158-70813158 C>A	1.0	4253	MELANOMA	-	-	-	-	BDP1	uc003kbo.3,p.Q1624K|uc003kbp.1,p.Q1624K|ENST00000358731,p.Q1624K|NM_018429,p.Q1624K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kbp.1	nonsynonymous SNV	exon22	c.C4870A	p.Q1624K	ETEKKVLTVSNSQIETEIEVPSSAV	ETEKKVLTVSNSKIETEIEVPSSAV	8.0	5.0	unscreened	-	4253_5:70813158-70813158 C>A_ETEKKVLTVSNSKIETEIEVPSSAV
5:13788900-13788900 C>G	0.0	4253	MELANOMA	-	-	-	-	DNAH5	uc003jfd.2,p.E2858Q|ENST00000265104,p.E2858Q|NM_001369,p.E2858Q	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon51	c.G8572C	p.E2858Q	ALVSLVEEEFGEEKKLLVDCGIDTY	ALVSLVEEEFGEQKKLLVDCGIDTY	3.0	1.0	unscreened	-	4253_5:13788900-13788900 C>G_ALVSLVEEEFGEQKKLLVDCGIDTY
1:247694910-247694926 GGGCGCTCTTCACCTCC>-	0.0	4253	MELANOMA	-	-	-	-	OR2C3	uc009xgy.3,p.T296fs|ENST00000366487,p.T296fs|NM_198074,p.T296fs|uc021pmb.1,p.T296fs	protein_coding	uc021pmb.1	frameshift deletion	exon1	c.888_904del	p.T296fs	PALNPLIYTLRNTEVKSALRHMVLE	PALNPLIYTLRNTPAHGIRELLWLCRQAGANL	1.0	3.0	unscreened	-	4253_1:247694910-247694926 GGGCGCTCTTCACCTCC>-_PALNPLIYTLRNTPAHGIRELLWLCRQAGANL
11:5067822-5067822 G>A	0.0	4253	MELANOMA	-	-	-	-	OR52J3	uc010qyv.2,p.E23K|NM_001001916,p.E23K|ENST00000380370,p.E23K	protein_coding	uc010qyv.2	nonsynonymous SNV	exon1	c.G67A	p.E23K	PVTFFLIGIPGLEDFHMWISGPFCS	PVTFFLIGIPGLKDFHMWISGPFCS	1.0	8.0	unscreened	-	4253_11:5067822-5067822 G>A_PVTFFLIGIPGLKDFHMWISGPFCS
19:35823575-35823575 G>A	0.0	4253	MELANOMA	-	-	-	-	CD22	NM_001185100,p.E54K|uc002nzb.4,p.E54K|NM_001185101,p.E54K|ENST00000599811,p.E54K|ENST00000600424,p.E52K|NM_001185099,p.E54K|uc010edu.3,p.E54K|NM_001771,p.E54K|ENST00000544992,p.E54K|ENST00000536635,p.E54K|ENST00000595780,p.E54K|uc010edv.3,p.E54K|ENST00000594250,p.E54K|ENST00000600131,p.E52K|ENST00000593867,p.E54K|ENST00000341773,p.E54K|uc010edt.3,p.E54K|ENST00000085219,p.E54K|ENST00000594349,p.E43K|ENST00000598537,p.E54K|ENST00000597916,p.E52K|ENST00000601769,p.E52K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010edv.3	nonsynonymous SNV	exon3	c.G160A	p.E54K	IPCTYRALDGDLESFILFHNPEYNK	IPCTYRALDGDLKSFILFHNPEYNK	5.0	3.0	unscreened	-	4253_19:35823575-35823575 G>A_IPCTYRALDGDLKSFILFHNPEYNK
11:4945121-4945121 G>A	0.0	4253	MELANOMA	-	-	-	-	OR51G1	ENST00000321961,p.S150L|NM_001005237,p.S150L|uc010qyr.2,p.S150L	protein_coding	uc010qyr.2	nonsynonymous SNV	exon1	c.C449T	p.S150L	LTPACIVKMGLSSVLRSALLILPLP	LTPACIVKMGLSLVLRSALLILPLP	2.0	8.0	unscreened	-	4253_11:4945121-4945121 G>A_LTPACIVKMGLSLVLRSALLILPLP
15:85400385-85400385 C>T	0.0	4253	MELANOMA	-	-	-	-	ALPK3	uc002ble.3,p.H1008Y|NM_020778,p.H1008Y|ENST00000258888,p.H1008Y	retained_intron, protein_coding	uc002ble.3	nonsynonymous SNV	exon6	c.C3022T	p.H1008Y	LSGNLMLPAQPPHEGSVEQVGGERC	LSGNLMLPAQPPYEGSVEQVGGERC	4.0	9.0	unscreened	-	4253_15:85400385-85400385 C>T_LSGNLMLPAQPPYEGSVEQVGGERC
17:3808567-3808567 G>A	0.0	4253	MELANOMA	-	-	-	-	P2RX1	uc002fww.3,p.P78S|NM_002558,p.P78S|ENST00000225538,p.P78S	retained_intron, protein_coding, nonsense_mediated_decay	uc002fww.3	nonsynonymous SNV	exon2	c.C232T	p.P78S	SVKLKGLAVTQLPGLGPQVWDVADY	SVKLKGLAVTQLSGLGPQVWDVADY	3.0	6.0	unscreened	-	4253_17:3808567-3808567 G>A_SVKLKGLAVTQLSGLGPQVWDVADY
6:136972135-136972135 A>T	0.0	4253	MELANOMA	-	-	-	-	MAP3K5	NM_005923,p.L592H|ENST00000359015,p.L592H|uc011edk.1,p.L437H|uc003qhc.3,p.L592H	protein_coding, processed_transcript	uc011edk.1	nonsynonymous SNV	exon11	c.T1310A	p.L437H	EVEEKTISIWHVLPDDKKGIHEWNF	EVEEKTISIWHVHPDDKKGIHEWNF	5.0	9.0	unscreened	-	4253_6:136972135-136972135 A>T_EVEEKTISIWHVHPDDKKGIHEWNF
17:48674270-48674270 G>A	0.0	4253	MELANOMA	-	-	-	-	CACNA1G	uc002irm.2,p.E1059K|ENST00000358244,p.E1059K|ENST00000502264,p.E1059K|NM_198380,p.E1082K|NM_198387,p.E1059K|NM_001256334,p.E1082K|NM_001256331,p.E1082K|ENST00000429973,p.E1082K|NM_001256333,p.E1082K|ENST00000507336,p.E1082K|NM_018896,p.E1082K|uc002iro.2,p.E1059K|ENST00000359106,p.E1082K|NM_001256324,p.E1082K|NM_001256332,p.E1059K|NM_198378,p.E1082K|ENST00000360761,p.E1059K|ENST00000513964,p.E1082K|uc002irx.2,p.E1082K|uc002isd.2,p.E1082K|NM_001256328,p.E1082K|ENST00000515165,p.E1082K|uc002isa.2,p.E1082K|NM_198384,p.E1082K|NM_198376,p.E1059K|NM_198382,p.E1059K|uc002ish.2,p.E1082K|ENST00000514079,p.E1082K|uc002irr.2,p.E1082K|uc031rde.1,p.E995K|uc002irw.2,p.E1059K|ENST00000507510,p.E1082K|ENST00000505165,p.E1082K|uc002isc.2,p.E1082K|NM_001256359,p.E1082K|NM_198383,p.E1059K|uc002irv.2,p.E1082K|ENST00000514717,p.E1059K|NM_198379,p.E1059K|ENST00000354983,p.E1059K|NM_001256361,p.E1082K|ENST00000416767,p.E1082K|ENST00000503485,p.E1082K|ENST00000515411,p.E1082K|ENST00000514181,p.E1082K|NM_001256360,p.E1082K|NM_001256326,p.E1082K|uc002isi.2,p.E1059K|uc002irp.2,p.E1082K|ENST00000512389,p.E1082K|uc002ise.2,p.E1082K|ENST00000510366,p.E1082K|ENST00000503436,p.E1059K|NM_198385,p.E1082K|ENST00000352832,p.E1059K|uc002irk.2,p.E1082K|uc002isg.2,p.E1082K|ENST00000515765,p.E1082K|NM_198388,p.E1059K|uc002irz.2,p.E1082K|ENST00000442258,p.E1059K|uc002iry.2,p.E1082K|uc002isf.2,p.E1082K|uc002irl.2,p.E1059K|uc002iru.2,p.E1059K|NM_198386,p.E1082K|ENST00000507609,p.E1082K|ENST00000511765,p.E1082K|NM_001256329,p.E1082K|ENST00000507896,p.E1082K|uc002irs.2,p.E1082K|ENST00000511768,p.E1059K|ENST00000503607,p.E1059K|uc002irt.2,p.E1082K|ENST00000506406,p.E1082K|uc002isb.2,p.E1082K|ENST00000510115,p.E1059K|NM_198377,p.E1082K|NM_198396,p.E1059K|NM_001256325,p.E1082K|uc002irj.2,p.E1059K|uc002irn.2,p.E1059K|ENST00000513689,p.E1082K|ENST00000504076,p.E1082K|NM_001256330,p.E1082K|NM_001256327,p.E1082K	protein_coding, nonsense_mediated_decay	uc031rde.1	nonsynonymous SNV	exon15	c.G2983A	p.E995K	SSSGSAEPGAAHEMKSPPSARSSPH	SSSGSAEPGAAHKMKSPPSARSSPH	3.0	9.0	unscreened	-	4253_17:48674270-48674270 G>A_SSSGSAEPGAAHKMKSPPSARSSPH
3:89259571-89259571 C>T	0.0	4253	MELANOMA	-	-	-	2	EPHA3	ENST00000452448,p.P239S|uc021xbf.1,p.P239S|uc003dqy.3,p.P239S|ENST00000494014,p.P239S|ENST00000336596,p.P239S|NM_182644,p.P239S|NM_005233,p.P239S|uc003dqx.1,p.P239S	protein_coding	uc021xbf.1	nonsynonymous SNV	exon3	c.C715T	p.P239S	RGSCVNNSKEEDPPRMYCSTEGEWL	RGSCVNNSKEEDSPRMYCSTEGEWL	5.0	2.0	unscreened	-	4253_3:89259571-89259571 C>T_RGSCVNNSKEEDSPRMYCSTEGEWL
4:160277065-160277065 C>T	1.0	4253	MELANOMA	-	-	-	-	RAPGEF2	NM_014247,p.P1410L|ENST00000264431,p.P1410L|uc003iqg.4,p.P1410L	retained_intron, protein_coding, processed_transcript	uc003iqg.4	nonsynonymous SNV	exon23	c.C4229T	p.P1410L	EPPPTPPGYIGIPITDFPEGHSHPA	EPPPTPPGYIGILITDFPEGHSHPA	7.0	5.0	unscreened	-	4253_4:160277065-160277065 C>T_EPPPTPPGYIGILITDFPEGHSHPA
6:49586938-49586938 C>T	0.0	4253	MELANOMA	-	-	-	-	RHAG	uc010jzl.3,p.G99R|ENST00000371175,p.G99R|NM_000324,p.G99R|ENST00000229810,p.G99R|uc010jzm.3,p.G99R|uc003ozk.4,p.G99R	protein_coding	uc010jzm.3	nonsynonymous SNV	exon2	c.G295A	p.G99R	AALGLQWGTIVQGILQSQGQKFNIG	AALGLQWGTIVQRILQSQGQKFNIG	1.0	3.0	unscreened	-	4253_6:49586938-49586938 C>T_AALGLQWGTIVQRILQSQGQKFNIG
18:76755307-76755307 C>T	0.0	4253	MELANOMA	-	-	-	-	SALL3	NM_171999,p.P1106S|uc002lmt.3,p.P1106S|uc010dra.3,p.P641S|ENST00000536229,p.P901S|ENST00000575389,p.P1034S|ENST00000537592,p.P1106S	protein_coding, processed_transcript	uc010dra.3	nonsynonymous SNV	exon2	c.C1921T	p.P641S	MGPGLAPMLAPPPRRTPKQHNCQSC	MGPGLAPMLAPPSRRTPKQHNCQSC	1.0	9.0	unscreened	-	4253_18:76755307-76755307 C>T_MGPGLAPMLAPPSRRTPKQHNCQSC
11:5809093-5809093 A>T	0.0	4253	MELANOMA	-	-	-	-	OR52N1	uc010qzo.2,p.H318Q|ENST00000317078,p.H318Q|NM_001001913,p.H318Q	protein_coding	uc010qzo.2	nonsynonymous SNV	exon1	c.T954A	p.H318Q	VIRFFLKGKDNSHNF	VIRFFLKGKDNSQNF	2.0	10.0	unscreened	-	4253_11:5809093-5809093 A>T_VIRFFLKGKDNSQNF
11:788290-788290 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1248066;OCCURENCE=1(oesophagus)	-	CEND1	NM_016564,p.G96D|uc021qbp.1,p.G96D|uc001lrh.1,p.G96D|ENST00000330106,p.G96D	protein_coding, processed_transcript	uc021qbp.1	nonsynonymous SNV	exon1	c.G287A	p.G96D	VPSSPDATPEPKGPGDGAEEDEAAS	VPSSPDATPEPKDPGDGAEEDEAAS	4.0	1.0	unscreened	-	4253_11:788290-788290 C>T_VPSSPDATPEPKDPGDGAEEDEAAS
17:41246073-41246073 A>T	1.0	4253	MELANOMA	-	-	-	1	BRCA1	NM_007297,p.I445K|uc010cyy.1,p.I492K|ENST00000354071,p.I492K|uc010whs.1,p.I492K|ENST00000493795,p.I445K|NM_007294,p.I492K|ENST00000470026,p.I492K|uc002icq.3,p.I492K|ENST00000477152,p.I466K|uc002ict.3,p.I492K|uc010cza.2,p.I466K|uc010cyz.2,p.I445K|ENST00000357654,p.I492K|ENST00000346315,p.I492K|uc002icp.4,p.I421K|uc010wht.1,p.I196K|ENST00000309486,p.I196K|uc010cyx.3,p.I445K|NM_007300,p.I492K|uc002ide.1,p.I323K|ENST00000471181,p.I492K|uc002idd.3,p.I492K	retained_intron, protein_coding, nonsense_mediated_decay, non_stop_decay	uc010wht.1	nonsynonymous SNV	exon2	c.T587A	p.I196K	NLIIGAFVTEPQIIQERPLTNKLKR	NLIIGAFVTEPQKIQERPLTNKLKR	8.0	4.0	-	-	4253_17:41246073-41246073 A>T_NLIIGAFVTEPQKIQERPLTNKLKR
7:142836670-142836670 G>A	0.0	4253	MELANOMA	-	-	-	-	PIP	ENST00000291009,p.D126N|NM_002652,p.D126N|uc003wcf.1,p.D126N	protein_coding	uc003wcf.1	nonsynonymous SNV	exon4	c.G376A	p.D126N	VDVIRELGICPDDAAVIPIKNNRFY	VDVIRELGICPDNAAVIPIKNNRFY	3.0	5.0	unscreened	-	4253_7:142836670-142836670 G>A_VDVIRELGICPDNAAVIPIKNNRFY
1:34052167-34052167 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1687377,COSM1687376;OCCURENCE=1(skin)	-	CSMD2	uc001bxm.1,p.E2330K|ENST00000241312,p.E2332K|NM_052896,p.E2332K|uc001bxn.1,p.E2332K|NM_001281956,p.E2330K|ENST00000373381,p.E2330K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon47	c.G6994A	p.E2332K	YRCLPGFTLVGNEILTCKLGTYLQF	YRCLPGFTLVGNKILTCKLGTYLQF	3.0	7.0	unscreened	-	4253_1:34052167-34052167 C>T_YRCLPGFTLVGNKILTCKLGTYLQF
5:131302212-131302212 C>T	0.0	4253	MELANOMA	-	-	-	2	ACSL6	NM_001205251,p.G437E|uc010jdn.2,p.G527E|ENST00000379246,p.G523E|ENST00000413683,p.G512E|ENST00000544770,p.G421E|ENST00000296869,p.G537E|NM_001009185,p.G537E|ENST00000431707,p.G492E|ENST00000379244,p.G512E|ENST00000379264,p.G537E|uc010jdo.2,p.G512E|uc003kwa.2,p.G523E|NM_001205250,p.G523E|ENST00000379240,p.G512E|ENST00000379272,p.G527E|ENST00000379249,p.G512E|uc021ydh.1,p.G437E|NM_001205248,p.G512E|ENST00000379255,p.G437E|uc003kwb.3,p.G502E|uc003kvx.2,p.G537E|NM_001205247,p.G502E|uc003kvy.2,p.G537E|NM_015256,p.G537E|uc003kvz.2,p.G437E|uc003kvw.2,p.G158E|ENST00000357096,p.G437E|ENST00000543479,p.G512E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ydh.1	nonsynonymous SNV	exon16	c.G1310A	p.G437E	WACKGEGEICVRGPNVFKGYLKDPD	WACKGEGEICVREPNVFKGYLKDPD	3.0	4.0	unscreened	-	4253_5:131302212-131302212 C>T_WACKGEGEICVREPNVFKGYLKDPD
16:23079393-23079393 C>A	1.0	4253	MELANOMA	-	-	-	-	USP31	uc002dlk.3,p.A617S|uc010vca.2,p.A648S|uc002dll.3,p.A1345S|ENST00000567975,p.A638S|ENST00000219689,p.A1345S|NM_020718,p.A1345S|uc010bxm.3,p.A633S	retained_intron, protein_coding	uc010vca.2	nonsynonymous SNV	exon3	c.G1942T	p.A648S	SSKKLSSSMQTSARPSQKPQ	SSKKLSSSMQTSSRPSQKPQ	7.0	1.0	unscreened	-	4253_16:23079393-23079393 C>A_SSKKLSSSMQTSSRPSQKPQ
3:40464489-40464489 G>A	0.0	4253	MELANOMA	-	-	-	-	ENTPD3	NM_001291960,p.G327E|NM_001291961,p.G327E|uc010hhy.3,p.G327E|uc003ckd.4,p.G327E|ENST00000445129,p.G327E|ENST00000456402,p.G327E|ENST00000301825,p.G327E|NM_001248,p.G327E	protein_coding	uc010hhy.3	nonsynonymous SNV	exon8	c.G980A	p.G327E	ESYNPNDVITFEGTGDPSLCKEKVA	ESYNPNDVITFEETGDPSLCKEKVA	3.0	1.0	unscreened	-	4253_3:40464489-40464489 G>A_ESYNPNDVITFEETGDPSLCKEKVA
12:40010937-40010937 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1361342;OCCURENCE=1(large_intestine)	-	ABCD2	ENST00000308666,p.A325T|NM_005164,p.A325T|uc001rmb.2,p.A325T	protein_coding	uc001rmb.2	nonsynonymous SNV	exon2	c.G973A	p.A325T	KVEMKQLQKSYKALADQMNLILSKR	KVEMKQLQKSYKTLADQMNLILSKR	2.0	4.0	unscreened	-	4253_12:40010937-40010937 C>T_KVEMKQLQKSYKTLADQMNLILSKR
1:113126647-113126647 T>G	1.0	4253	MELANOMA	-	-	-	-	ST7L	uc010owj.1,p.Y251S|ENST00000543570,p.Y251S|ENST00000490067,p.Y251S|ENST00000544629,p.Y203S|ENST00000538187,p.Y212S|NM_017744,p.Y268S|uc001ece.3,p.Y268S|NM_138729,p.Y268S|NM_138727,p.Y251S|ENST00000369668,p.Y268S|uc010owi.2,p.Y203S|ENST00000490715,p.Y268S|uc001ech.3,p.Y251S|ENST00000358039,p.Y268S|uc001ecc.3,p.Y85S|ENST00000369666,p.Y251S|ENST00000343210,p.Y268S|ENST00000369669,p.Y85S|ENST00000360743,p.Y268S|NM_138728,p.Y268S|uc001ecd.3,p.Y268S|ENST00000361846,p.Y268S|uc001ecf.3,p.Y251S|ENST00000369664,p.Y212S|uc001eci.3,p.Y268S|uc010owg.2,p.Y203S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010owj.1	nonsynonymous SNV	exon7	c.A752C	p.Y251S	LFKQALKAGETIYRQSQQCQHQSPQ	LFKQALKAGETISRQSQQCQHQSPQ	9.0	8.0	unscreened	-	4253_1:113126647-113126647 T>G_LFKQALKAGETISRQSQQCQHQSPQ
19:9063339-9063339 T>C	0.0	4253	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.E8036G|uc002mkp.3,p.E8036G|NM_024690,p.E8036G	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.A24107G	p.E8036G	TNSPANLSSTSVEILATSEVTTDTE	TNSPANLSSTSVGILATSEVTTDTE	2.0	3.0	unscreened	-	4253_19:9063339-9063339 T>C_TNSPANLSSTSVGILATSEVTTDTE
4:25664181-25664181 G>A	0.0	4253	MELANOMA	-	-	-	1	SLC34A2	uc010iev.3,p.G20E|ENST00000513204,p.G20E|uc003grr.3,p.G20E|NM_001177999,p.G20E|NM_001177998,p.G20E|ENST00000507530,p.G20E|NM_006424,p.G20E|ENST00000382051,p.G20E|ENST00000503434,p.G20E|uc003grs.3,p.G20E|ENST00000504570,p.G20E	protein_coding, processed_transcript	uc010iev.3	nonsynonymous SNV	exon2	c.G59A	p.G20E	GDAQPNPDKYLEGAAGQQPTAPDKS	GDAQPNPDKYLEEAAGQQPTAPDKS	4.0	9.0	unscreened	-	4253_4:25664181-25664181 G>A_GDAQPNPDKYLEEAAGQQPTAPDKS
4:37432288-37432288 A>G	0.0	4253	MELANOMA	-	-	-	-	NWD2	uc011bxz.2,p.K151R|ENST00000309447,p.K151R|NM_001144990,p.K151R	protein_coding	uc011bxz.2	nonsynonymous SNV	exon4	c.A452G	p.K151R	EFEMILDAAIEAKLETKLLEEWYCR	EFEMILDAAIEARLETKLLEEWYCR	1.0	6.0	unscreened	-	4253_4:37432288-37432288 A>G_EFEMILDAAIEARLETKLLEEWYCR
20:10258339-10258339 G>A	0.0	4253	MELANOMA	-	-	-	-	SNAP25	NM_130811,p.E27K|ENST00000430336,p.E27K|ENST00000254976,p.E27K|ENST00000304886,p.E27K|NM_003081,p.E27K|uc010gca.2,p.E27K|uc002wnq.2,p.E27K|uc002wnr.2,p.E27K	protein_coding, processed_transcript	uc010gca.2	nonsynonymous SNV	exon5	c.G79A	p.E27K	QRRADQLADESLESTRRMLQLVEES	QRRADQLADESLKSTRRMLQLVEES	6.0	6.0	unscreened	-	4253_20:10258339-10258339 G>A_QRRADQLADESLKSTRRMLQLVEES
13:25356079-25356079 C>T	0.0	4253	MELANOMA	-	-	-	-	RNF17	uc001ups.3,p.S142F|uc010tde.2,p.S203F|ENST00000381921,p.S203F|NM_031277,p.S203F|NM_001184993,p.S203F|uc010tdd.1,p.S62F|uc001upr.3,p.S203F|uc001upq.1,p.S203F|ENST00000255324,p.S203F	protein_coding, processed_transcript	uc010tde.2	nonsynonymous SNV	exon6	c.C608T	p.S203F	EKQFDQLLAFFDSRKKNLCEEFART	EKQFDQLLAFFDFRKKNLCEEFART	1.0	4.0	unscreened	-	4253_13:25356079-25356079 C>T_EKQFDQLLAFFDFRKKNLCEEFART
5:41381928-41381928 C>T	0.0	4253	MELANOMA	-	-	-	-	PLCXD3	NM_001005473,p.R271K|ENST00000328457,p.R271K|ENST00000377801,p.R271K|uc003jmm.1,p.R271K	protein_coding	uc003jmm.1	nonsynonymous SNV	exon2	c.G812A	p.R271K	GVASGLRETITERALPAMMQWVRTQ	GVASGLRETITEKALPAMMQWVRTQ	2.0	4.0	unscreened	-	4253_5:41381928-41381928 C>T_GVASGLRETITEKALPAMMQWVRTQ
1:152276590-152276590 G>C	0.0	4253	MELANOMA	-	-	-	-	FLG	ENST00000368799,p.S3591C|NM_002016,p.S3591C|uc001ezu.1,p.S3591C	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.C10772G	p.S3591C	TSHHEDRAGHGHSAESSRQSGTHHA	TSHHEDRAGHGHCAESSRQSGTHHA	1.0	1.0	unscreened	-	4253_1:152276590-152276590 G>C_TSHHEDRAGHGHCAESSRQSGTHHA
11:31123825-31123825 C>T	0.0	4253	MELANOMA	-	-	-	-	DCDC5,DCDC1	uc009yjl.1,p.E4K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yjl.1	nonsynonymous SNV	exon5	c.G10A	p.E4K	MCWEVCEGFPINFNCT	MCWKVCEGFPINFNCT	4.0	3.0	unscreened	-	4253_11:31123825-31123825 C>T_MCWKVCEGFPINFNCT
16:61687660-61687660 C>T	0.0	4253	MELANOMA	-	-	-	-	CDH8	uc002eog.2,p.G751D|NM_001796,p.G751D|ENST00000577390,p.G751D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eog.2	nonsynonymous SNV	exon12	c.G2252A	p.G751D	PPYDSIQIYGYEGRGSVAGSLSSLE	PPYDSIQIYGYEDRGSVAGSLSSLE	5.0	6.0	unscreened	-	4253_16:61687660-61687660 C>T_PPYDSIQIYGYEDRGSVAGSLSSLE
4:65145808-65145808 C>T	0.0	4253	MELANOMA	-	-	-	-	TECRL	NM_001010874,p.M358I|uc003hcv.3,p.M358I|ENST00000381210,p.M358I	retained_intron, protein_coding, processed_transcript	uc003hcv.3	nonsynonymous SNV	exon12	c.G1074A	p.M358I	RKFNSYIHRKSAMIPFIL	RKFNSYIHRKSAIIPFIL	1.0	6.0	unscreened	-	4253_4:65145808-65145808 C>T_RKFNSYIHRKSAIIPFIL
1:70225903-70225903 A>C	0.0	4253	MELANOMA	-	-	-	-	LRRC7	ENST00000310961,p.K11Q	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000310961	nonsynonymous SNV	exon4	c.A31C	p.K11Q	MQCLEMTTKRKIIGRLVPCRCFR	MQCLEMTTKRQIIGRLVPCRCFR	5.0	6.0	unscreened	-	4253_1:70225903-70225903 A>C_MQCLEMTTKRQIIGRLVPCRCFR
19:9049400-9049400 G>A	0.0	4253	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.S10744F|NM_024690,p.S10744F|uc002mkp.3,p.S10744F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon5	c.C32231T	p.S10744F	GAEDLVTSQVTSSGTDRNMTIPTLT	GAEDLVTSQVTSFGTDRNMTIPTLT	2.0	3.0	unscreened	-	4253_19:9049400-9049400 G>A_GAEDLVTSQVTSFGTDRNMTIPTLT
11:107299928-107299928 A>T	1.0	4253	MELANOMA	-	-	-	-	CWF19L2	ENST00000431778,p.L225I|ENST00000532251,p.L225I|uc010rvp.2,p.L344I|ENST00000282251,p.L344I|NM_152434,p.L344I|ENST00000433523,p.L344I	retained_intron, protein_coding, nonsense_mediated_decay	uc010rvp.2	nonsynonymous SNV	exon8	c.T1030A	p.L344I	FIGDEKDKRPGSLETCRRESNPRQN	FIGDEKDKRPGSIETCRRESNPRQN	9.0	8.0	unscreened	-	4253_11:107299928-107299928 A>T_FIGDEKDKRPGSIETCRRESNPRQN
14:92126199-92126199 C>T	0.0	4253	MELANOMA	-	-	-	-	CATSPERB	NM_024764,p.V472I|ENST00000256343,p.V472I|uc001xzs.1,p.V472I	retained_intron, protein_coding, nonsense_mediated_decay	uc001xzs.1	nonsynonymous SNV	exon15	c.G1414A	p.V472I	TSAITFVSQRGKVYSTKAGMGRYSA	TSAITFVSQRGKIYSTKAGMGRYSA	5.0	2.0	unscreened	-	4253_14:92126199-92126199 C>T_TSAITFVSQRGKIYSTKAGMGRYSA
4:23815737-23815737 C>T	0.0	4253	MELANOMA	-	-	-	-	PPARGC1A	uc031seb.1,p.E462K|NM_013261,p.E457K|ENST00000264867,p.E457K|uc031sdz.1,p.E445K|uc003gqs.3,p.E457K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031seb.1	nonsynonymous SNV	exon9	c.G1384A	p.E462K	SPCSTRKQLQDQEIRAELNKHFGHP	SPCSTRKQLQDQKIRAELNKHFGHP	5.0	9.0	unscreened	-	4253_4:23815737-23815737 C>T_SPCSTRKQLQDQKIRAELNKHFGHP
18:61170734-61170734 G>A	0.0	4253	MELANOMA	-	-	-	-	SERPINB5	ENST00000382771,p.D303N|NM_002639,p.D303N|uc002liz.4,p.D303N	retained_intron, protein_coding, processed_transcript	uc002liz.4	nonsynonymous SNV	exon7	c.G907A	p.D303N	LGLKHIFSEDTSDFSGMSETKGVAL	LGLKHIFSEDTSNFSGMSETKGVAL	1.0	2.0	unscreened	-	4253_18:61170734-61170734 G>A_LGLKHIFSEDTSNFSGMSETKGVAL
1:70225903-70225903 A>C	0.0	4253	MELANOMA	-	-	-	-	LRRC7	uc001deo.1,p.K44Q|ENST00000370958,p.K44Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc001deo.1	nonsynonymous SNV	exon3	c.A130C	p.K44Q	EELQCLEMTTKRKIIGRLVPCRCFR	EELQCLEMTTKRQIIGRLVPCRCFR	5.0	6.0	unscreened	-	4253_1:70225903-70225903 A>C_EELQCLEMTTKRQIIGRLVPCRCFR
1:166962073-166962073 A>G	0.0	4253	MELANOMA	-	-	-	-	MAEL	uc021peh.1,p.N103S|ENST00000367870,p.N128S|uc001gdz.1,p.N128S|NM_032858,p.N159S|uc001gdy.1,p.N159S|ENST00000367872,p.N159S|ENST00000447624,p.N128S|NM_001286377,p.N128S|NM_001286378,p.N103S	protein_coding, processed_transcript	uc021peh.1	nonsynonymous SNV	exon5	c.A308G	p.N103S	QEGIMADFHSFINPGEIPRGFRFHC	QEGIMADFHSFISPGEIPRGFRFHC	3.0	3.0	unscreened	-	4253_1:166962073-166962073 A>G_QEGIMADFHSFISPGEIPRGFRFHC
2:179614306-179614306 T>G	0.0	4253	MELANOMA	-	-	-	-	TTN	uc002unb.3,p.Q4274P|ENST00000360870,p.Q4274P|NM_133379,p.Q4274P	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.A12821C	p.Q4274P	IGEIYGKYSRDQQLQDQGESVRAHF	IGEIYGKYSRDQPLQDQGESVRAHF	5.0	9.0	unscreened	-	4253_2:179614306-179614306 T>G_IGEIYGKYSRDQPLQDQGESVRAHF
4:6863136-6863136 G>A	1.0	4253	MELANOMA	-	-	-	-	KIAA0232	NM_014743,p.E343K|uc003gjq.4,p.E343K|ENST00000425103,p.E343K|uc003gjr.4,p.E343K|NM_001100590,p.E343K|ENST00000307659,p.E343K	protein_coding, processed_transcript	uc003gjr.4	nonsynonymous SNV	exon7	c.G1027A	p.E343K	QSRLSLKHGEKAERNIHTGSSSSSS	QSRLSLKHGEKAKRNIHTGSSSSSS	7.0	9.0	unscreened	-	4253_4:6863136-6863136 G>A_QSRLSLKHGEKAKRNIHTGSSSSSS
2:168101167-168101167 G>A	0.0	4253	MELANOMA	-	-	-	-	XIRP2	ENST00000409195,p.G1089R|NM_152381,p.G1089R|ENST00000295237,p.G1089R|ENST00000409273,p.G867R|NM_001199144,p.G867R|uc010fpq.3,p.G867R|uc002udy.3,p.G914R|uc002udx.3,p.G1089R	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G2599A	p.G867R	ESKTEQTRDIVKGDVKTCKWLFETQ	ESKTEQTRDIVKRDVKTCKWLFETQ	2.0	9.0	unscreened	-	4253_2:168101167-168101167 G>A_ESKTEQTRDIVKRDVKTCKWLFETQ
12:52942565-52942565 A>C	0.0	4253	MELANOMA	-	-	-	-	KRT71	uc001sao.3,p.Y245D|ENST00000267119,p.Y245D|NM_033448,p.Y245D	protein_coding	uc001sao.3	nonsynonymous SNV	exon4	c.T733G	p.Y245D	EFVLLKKDVDAAYANKVELQAKVES	EFVLLKKDVDAADANKVELQAKVES	1.0	9.0	unscreened	-	4253_12:52942565-52942565 A>C_EFVLLKKDVDAADANKVELQAKVES
5:149630342-149630342 G>A	0.0	4253	MELANOMA	-	-	-	-	CAMK2A	ENST00000348628,p.P242L|NM_171825,p.P242L|uc010jhe.2,p.P222L|ENST00000398376,p.P242L|uc003lru.2,p.P242L|uc003lrt.2,p.P242L|NM_015981,p.P242L	retained_intron, protein_coding, processed_transcript	uc010jhe.2	nonsynonymous SNV	exon9	c.C665T	p.P222L	YDFPSPEWDTVTPEAKDLINKMLTI	YDFPSPEWDTVTLEAKDLINKMLTI	3.0	6.0	unscreened	-	4253_5:149630342-149630342 G>A_YDFPSPEWDTVTLEAKDLINKMLTI
19:51165586-51165586 C>T	0.0	4253	MELANOMA	-	-	-	-	SHANK1	uc002psw.1,p.G1425E|ENST00000391813,p.G1428E|ENST00000293441,p.G2041E|ENST00000391814,p.G2049E|ENST00000359082,p.G2032E|uc002psx.1,p.G2041E|NM_016148,p.G2041E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002psx.1	nonsynonymous SNV	exon23	c.G6122A	p.G2041E	YPGLFDIRGSPTGGAGGSADPFAPV	YPGLFDIRGSPTEGAGGSADPFAPV	4.0	2.0	unscreened	-	4253_19:51165586-51165586 C>T_YPGLFDIRGSPTEGAGGSADPFAPV
7:144096196-144096196 G>A	0.0	4253	MELANOMA	-	-	-	-	NOBOX	uc022aoj.1,p.T439I|ENST00000223140,p.T322I|ENST00000483238,p.T407I|ENST00000467773,p.T439I|NM_001080413,p.T439I	protein_coding	uc022aoj.1	nonsynonymous SNV	exon8	c.C1316T	p.T439I	PTQPSEGAQRVVTPPLFSPPPVRRA	PTQPSEGAQRVVIPPLFSPPPVRRA	1.0	5.0	unscreened	-	4253_7:144096196-144096196 G>A_PTQPSEGAQRVVIPPLFSPPPVRRA
11:56432039-56432039 G>T	0.0	4253	MELANOMA	-	-	-	-	OR5AR1	ENST00000302969,p.R293L|NM_001004730,p.R293L|uc010rjm.2,p.R293L	protein_coding	uc010rjm.2	nonsynonymous SNV	exon1	c.G878T	p.R293L	IIPMLNPLIYSLRNKDVKAAFKKLI	IIPMLNPLIYSLLNKDVKAAFKKLI	1.0	3.0	unscreened	-	4253_11:56432039-56432039 G>T_IIPMLNPLIYSLLNKDVKAAFKKLI
3:140277672-140277672 G>A	0.0	4253	MELANOMA	-	-	-	-	CLSTN2	NM_022131,p.E672K|uc003etn.3,p.E672K|ENST00000458420,p.E672K	retained_intron, protein_coding	uc003etn.3	nonsynonymous SNV	exon12	c.G2014A	p.E672K	PDIKIVSTFAKTEAPGDVKTTDPKS	PDIKIVSTFAKTKAPGDVKTTDPKS	2.0	9.0	unscreened	-	4253_3:140277672-140277672 G>A_PDIKIVSTFAKTKAPGDVKTTDPKS
X:48047142-48047142 C>A	0.0	4253	MELANOMA	-	-	-	-	SSX5	ENST00000311798,p.W205C|ENST00000376923,p.W164C|NM_175723,p.W164C|ENST00000403001,p.W104C|uc004diz.1,p.W205C|ENST00000347757,p.W164C|uc004dja.1,p.W164C|NM_021015,p.W205C	protein_coding	uc004dja.1	nonsynonymous SNV	exon7	c.G492T	p.W164C	NKTSGPKRGKHAWTHRVRERKQLVI	NKTSGPKRGKHACTHRVRERKQLVI	3.0	7.0	unscreened	-	4253_X:48047142-48047142 C>A_NKTSGPKRGKHACTHRVRERKQLVI
14:90725537-90725537 G>A	1.0	4253	MELANOMA	-	-	-	-	PSMC1	ENST00000261303,p.G13S|uc001xyf.3,p.G13S|NM_002802,p.G13S	retained_intron, protein_coding	uc001xyf.3	nonsynonymous SNV	exon2	c.G37A	p.G13S	MGQSQSGGHGPGGGKKDDKDKKKKY	MGQSQSGGHGPGSGKKDDKDKKKKY	10.0	9.0	unscreened	-	4253_14:90725537-90725537 G>A_MGQSQSGGHGPGSGKKDDKDKKKKY
5:63256645-63256645 G>A	0.0	4253	MELANOMA	-	-	-	-	HTR1A	ENST00000323865,p.S301F|uc011cqt.3,p.S301F|NM_000524,p.S301F	protein_coding	uc011cqt.3	nonsynonymous SNV	exon1	c.C902T	p.S301F	ALEVIEVHRVGNSKEHLPLPSEAGP	ALEVIEVHRVGNFKEHLPLPSEAGP	1.0	5.0	unscreened	-	4253_5:63256645-63256645 G>A_ALEVIEVHRVGNFKEHLPLPSEAGP
6:30917910-30917910 G>A	0.0	4253	MELANOMA	-	-	-	-	DPCR1	ENST00000462446,p.A557T|NM_080870,p.A557T|uc003nsg.2,p.A557T	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.G1669A	p.A557T	ERTANEKTTPSPAEPTENGDRTPLA	ERTANEKTTPSPTEPTENGDRTPLA	1.0	1.0	unscreened	-	4253_6:30917910-30917910 G>A_ERTANEKTTPSPTEPTENGDRTPLA
1:200870261-200870261 C>T	0.0	4253	MELANOMA	-	-	-	-	C1orf106	uc010ppm.2,p.P165L|ENST00000367342,p.P250L|uc001gvo.4,p.P264L|ENST00000413687,p.P165L|NM_001142569,p.P165L|NM_018265,p.P264L	protein_coding, processed_transcript	uc010ppm.2	nonsynonymous SNV	exon5	c.C494T	p.P165L	CLVERRRNSEPPPAAALPLGRELSA	CLVERRRNSEPPLAAALPLGRELSA	4.0	7.0	unscreened	-	4253_1:200870261-200870261 C>T_CLVERRRNSEPPLAAALPLGRELSA
12:11546665-11546665 C>T	0.0	4253	MELANOMA	-	-	-	-	PRB2	NM_006248,p.G116E|ENST00000389362,p.G116E|uc010shk.1,p.G116E	protein_coding, processed_transcript	uc010shk.1	nonsynonymous SNV	exon3	c.G347A	p.G116E	QGDKSRSPRSPPGKPQGPPPQGGNQ	QGDKSRSPRSPPEKPQGPPPQGGNQ	1.0	1.0	unscreened	-	4253_12:11546665-11546665 C>T_QGDKSRSPRSPPEKPQGPPPQGGNQ
7:100642569-100642569 G>A	0.0	4253	MELANOMA	-	-	-	-	MUC12	NM_001164462,p.E2909K|ENST00000536621,p.E2909K|ENST00000379442,p.E3052K|uc003uxo.3,p.E2909K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G8725A	p.E2909K	FPDSTTTSGLSQEPTASHSSQGSTE	FPDSTTTSGLSQKPTASHSSQGSTE	5.0	1.0	unscreened	-	4253_7:100642569-100642569 G>A_FPDSTTTSGLSQKPTASHSSQGSTE
12:57649830-57649830 G>A	1.0	4253	MELANOMA	-	-	-	-	R3HDM2	ENST00000429355,p.R610W|ENST00000393811,p.R572W|uc001snr.2,p.R572W|ENST00000358907,p.R845W|NM_014925,p.R845W|uc001sns.2,p.R845W|ENST00000402412,p.R859W|ENST00000403821,p.R879W|uc001snt.2,p.R859W|uc001snu.2,p.R540W|ENST00000347140,p.R845W|uc009zpm.1,p.R845W|ENST00000413953,p.R572W|ENST00000441731,p.R540W	retained_intron, protein_coding, processed_transcript	uc009zpm.1	nonsynonymous SNV	exon21	c.C2533T	p.R845W	VHQGQSGLKHGNRGKRQALKSASTD	VHQGQSGLKHGNWGKRQALKSASTD	9.0	2.0	unscreened	-	4253_12:57649830-57649830 G>A_VHQGQSGLKHGNWGKRQALKSASTD
19:39759328-39759328 G>A	0.0	4253	MELANOMA	-	-	-	-	IFNL2	NM_172138,p.D8N|ENST00000331982,p.D8N|uc002oku.1,p.D8N	protein_coding	uc002oku.1	nonsynonymous SNV	exon2	c.G22A	p.D8N	MKLDMTGDCTPVLVLMAAVL	MKLDMTGNCTPVLVLMAAVL	1.0	2.0	unscreened	-	4253_19:39759328-39759328 G>A_MKLDMTGNCTPVLVLMAAVL
12:57324215-57324215 C>T	0.0	4253	MELANOMA	-	-	-	-	SDR9C7	uc010sqw.2,p.E119K|ENST00000293502,p.E119K|NM_148897,p.E119K	protein_coding	uc010sqw.2	nonsynonymous SNV	exon2	c.G355A	p.E119K	NNAGVGLPSGPNEWLTKDDFVKVIN	NNAGVGLPSGPNKWLTKDDFVKVIN	2.0	9.0	unscreened	-	4253_12:57324215-57324215 C>T_NNAGVGLPSGPNKWLTKDDFVKVIN
11:118765008-118765008 C>T	0.0	4253	MELANOMA	-	-	-	-	CXCR5	uc001pue.4,p.P252L|ENST00000292174,p.P252L|NM_001716,p.P252L|uc001puf.3,p.P207L|NM_032966,p.P207L	protein_coding	uc001puf.3	nonsynonymous SNV	exon1	c.C620T	p.P207L	GVVHRLRQAQRRPQRQKAVRVAILV	GVVHRLRQAQRRLQRQKAVRVAILV	3.0	3.0	unscreened	-	4253_11:118765008-118765008 C>T_GVVHRLRQAQRRLQRQKAVRVAILV
7:127255558-127255558 C>T	0.0	4253	MELANOMA	-	-	-	-	PAX4	ENST00000338516,p.G14E	retained_intron, protein_coding	ENST00000338516	nonsynonymous SNV	exon2	c.G41A	p.G14E	HQDGISSMNQLGGLFVNGRPLPLDT	HQDGISSMNQLGELFVNGRPLPLDT	1.0	4.0	unscreened	-	4253_7:127255558-127255558 C>T_HQDGISSMNQLGELFVNGRPLPLDT
1:45479303-45479303 G>A	1.0	4253	MELANOMA	-	-	-	-	UROD	NM_000374,p.G105E|uc010olj.1,p.G49E|uc001cna.2,p.G105E|uc001cnb.2,p.G70E|ENST00000434478,p.G84E|ENST00000246337,p.G105E	protein_coding, processed_transcript	uc010olj.1	nonsynonymous SNV	exon3	c.G146A	p.G49E	ALGMEVTMVPGKGPSFPEPLREEQD	ALGMEVTMVPGKEPSFPEPLREEQD	10.0	5.0	unscreened	-	4253_1:45479303-45479303 G>A_ALGMEVTMVPGKEPSFPEPLREEQD
20:2411649-2411649 T>A	0.0	4253	MELANOMA	-	-	-	-	TGM6	NM_198994,p.L648H|ENST00000202625,p.L648H|uc002wfy.1,p.L648H	protein_coding, processed_transcript	uc002wfy.1	nonsynonymous SNV	exon12	c.T1943A	p.L648H	VKDCALMVEGSGLLQEQLSIDVPTL	VKDCALMVEGSGHLQEQLSIDVPTL	1.0	6.0	unscreened	-	4253_20:2411649-2411649 T>A_VKDCALMVEGSGHLQEQLSIDVPTL
2:135616857-135616857 G>A	0.0	4253	MELANOMA	-	-	-	-	ACMSD	ENST00000392928,p.G2E|ENST00000283054,p.G2E|uc002tua.3,p.G2E	retained_intron, protein_coding	uc002tua.3	nonsynonymous SNV	exon4	c.G5A	p.G2E	MGKSSEWCERIAGI	MEKSSEWCERIAGI	3.0	2.0	unscreened	-	4253_2:135616857-135616857 G>A_MEKSSEWCERIAGI
12:40827683-40827683 G>A	0.0	4253	MELANOMA	-	-	-	-	MUC19	ENST00000425730,p.G405E	retained_intron, protein_coding, processed_transcript	ENST00000425730	nonsynonymous SNV	exon18	c.G1214A	p.G405E	FANSWEMMSCPKGNPSSCISIEKEK	FANSWEMMSCPKENPSSCISIEKEK	5.0	7.0	unscreened	-	4253_12:40827683-40827683 G>A_FANSWEMMSCPKENPSSCISIEKEK
1:169586463-169586463 C>T	0.0	4253	MELANOMA	-	-	-	-	SELP	NM_003005,p.R95Q|uc009wvr.3,p.R95Q|ENST00000367794,p.R95Q|uc001ggi.4,p.R95Q|ENST00000426706,p.R94Q|ENST00000367792,p.R95Q|ENST00000367786,p.R95Q|ENST00000458599,p.R95Q|ENST00000367791,p.R95Q|ENST00000367795,p.R95Q|ENST00000367788,p.R95Q|ENST00000263686,p.R95Q|ENST00000367793,p.R95Q	protein_coding, processed_transcript	uc009wvr.3	nonsynonymous SNV	exon3	c.G284A	p.R95Q	LPYYSSYYWIGIRKNNKTWTWVGTK	LPYYSSYYWIGIQKNNKTWTWVGTK	4.0	9.0	unscreened	-	4253_1:169586463-169586463 C>T_LPYYSSYYWIGIQKNNKTWTWVGTK
3:167293784-167293784 C>T	0.0	4253	MELANOMA	-	-	-	-	WDR49	ENST00000479765,p.M477I|uc003fev.1,p.M136I|ENST00000308378,p.M136I|uc003few.1,p.M477I|uc011bpd.1,p.M189I|NM_178824,p.M136I|ENST00000453925,p.M189I	protein_coding, nonsense_mediated_decay	uc011bpd.1	nonsynonymous SNV	exon4	c.G567A	p.M189I	FISFNNQLALLAMKSEASKRVKSHE	FISFNNQLALLAIKSEASKRVKSHE	1.0	9.0	unscreened	-	4253_3:167293784-167293784 C>T_FISFNNQLALLAIKSEASKRVKSHE
11:788291-788291 C>T	0.0	4253	MELANOMA	-	-	-	-	CEND1	uc021qbp.1,p.G96S|uc001lrh.1,p.G96S|NM_016564,p.G96S|ENST00000330106,p.G96S	protein_coding, processed_transcript	uc021qbp.1	nonsynonymous SNV	exon1	c.G286A	p.G96S	VPSSPDATPEPKGPGDGAEEDEAAS	VPSSPDATPEPKSPGDGAEEDEAAS	4.0	1.0	unscreened	-	4253_11:788291-788291 C>T_VPSSPDATPEPKSPGDGAEEDEAAS
1:240071290-240071290 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1236719;OCCURENCE=1(pancreas)	-	CHRM3	NM_000740,p.R180Q|ENST00000255380,p.R180Q|uc001hyp.3,p.R180Q|uc021plc.1,p.R180Q	protein_coding, processed_transcript	uc021plc.1	nonsynonymous SNV	exon1	c.G539A	p.R180Q	FSITRPLTYRAKRTTKRAGVMIGLA	FSITRPLTYRAKQTTKRAGVMIGLA	4.0	9.0	unscreened	-	4253_1:240071290-240071290 G>A_FSITRPLTYRAKQTTKRAGVMIGLA
1:182026799-182026799 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1689347;OCCURENCE=1(skin)	-	ZNF648	uc021pfu.1,p.S116F|NM_001009992,p.S116F|uc001goz.3,p.S116F|ENST00000339948,p.S116F	protein_coding	uc021pfu.1	nonsynonymous SNV	exon1	c.C347T	p.S116F	SRDVTKINETQGSPGASRALGSLPS	SRDVTKINETQGFPGASRALGSLPS	3.0	2.0	unscreened	-	4253_1:182026799-182026799 G>A_SRDVTKINETQGFPGASRALGSLPS
19:22499202-22499202 G>A	0.0	4253	MELANOMA	-	-	-	-	ZNF729	uc021urs.1,p.E995K|ENST00000601693,p.E995K|NM_001242680,p.E995K|ENST00000357491,p.E967K	protein_coding	uc021urs.1	nonsynonymous SNV	exon4	c.G2983A	p.E995K	KAIHTGEKPYKCEECGKDFNNSSTL	KAIHTGEKPYKCKECGKDFNNSSTL	2.0	1.0	unscreened	-	4253_19:22499202-22499202 G>A_KAIHTGEKPYKCKECGKDFNNSSTL
12:40672040-40672040 G>A	0.0	4253	MELANOMA	-	-	-	-	LRRK2	NM_198578,p.E740K|uc001rmh.1,p.E362K|ENST00000298910,p.E740K|ENST00000343742,p.E740K|uc001rmg.4,p.E740K|ENST00000416796,p.E488K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rmh.1	nonsynonymous SNV	exon9	c.G1084A	p.E362K	LLLLGADANQAKEGSSLICQVCEKE	LLLLGADANQAKKGSSLICQVCEKE	5.0	1.0	unscreened	-	4253_12:40672040-40672040 G>A_LLLLGADANQAKKGSSLICQVCEKE
1:152188526-152188526 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1472630;OCCURENCE=1(breast)	-	HRNR	NM_001009931,p.R1860Q|ENST00000368801,p.R1860Q|uc001ezt.2,p.R1860Q	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G5579A	p.R1860Q	HGSGSGWSSSSGRHGSGSGQSSGFG	HGSGSGWSSSSGQHGSGSGQSSGFG	1.0	1.0	unscreened	-	4253_1:152188526-152188526 C>T_HGSGSGWSSSSGQHGSGSGQSSGFG
14:21771647-21771647 G>A	0.0	4253	MELANOMA	-	-	-	-	RPGRIP1	uc001wag.3,p.E249K|NM_020366,p.E249K|ENST00000400017,p.E249K|ENST00000206660,p.E249K|ENST00000556336,p.E222K|ENST00000557771,p.E222K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wag.3	nonsynonymous SNV	exon5	c.G745A	p.E249K	PPKSPEKMWPKDENFEQRSSLECAQ	PPKSPEKMWPKDKNFEQRSSLECAQ	4.0	9.0	unscreened	-	4253_14:21771647-21771647 G>A_PPKSPEKMWPKDKNFEQRSSLECAQ
2:179742782-179742782 G>A	0.0	4253	MELANOMA	-	-	-	-	CCDC141	ENST00000443758,p.S603F|uc002ung.3,p.S603F|uc002unf.1,p.S82F|uc002une.2,p.S603F|ENST00000420890,p.S603F|ENST00000409284,p.S603F|ENST00000295723,p.S28F|ENST00000343876,p.S47F|ENST00000446116,p.S538F|NM_173648,p.S603F	protein_coding, processed_transcript	uc002ung.3	nonsynonymous SNV	exon12	c.C1808T	p.S603F	QKEQDDAKAKHCSDSAEKQWQLFLK	QKEQDDAKAKHCFDSAEKQWQLFLK	3.0	9.0	unscreened	-	4253_2:179742782-179742782 G>A_QKEQDDAKAKHCFDSAEKQWQLFLK
4:111452385-111452385 G>A	0.0	4253	MELANOMA	-	-	-	-	ENPEP	ENST00000265162,p.E587K|uc003iab.4,p.E587K|NM_001977,p.E587K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003iab.4	nonsynonymous SNV	exon11	c.G1759A	p.E587K	LGYTWNIPVKWTEDNITSSVLFNRS	LGYTWNIPVKWTKDNITSSVLFNRS	5.0	8.0	unscreened	-	4253_4:111452385-111452385 G>A_LGYTWNIPVKWTKDNITSSVLFNRS
4:70455275-70455275 G>A	0.0	4253	MELANOMA	-	-	ID=COSM2149755,COSM2149756;OCCURENCE=1(central_nervous_system)	-	UGT2A1,UGT2A2	NM_006798,p.R467C|uc011caq.2,p.R633C|NM_001301233,p.R432C|NM_001252275,p.R467C|uc010ihu.3,p.R467C|ENST00000512704,p.R423C|ENST00000457664,p.R476C|ENST00000286604,p.R467C|NM_001301239,p.R423C|uc021xox.1,p.R432C|uc010ihs.3,p.R476C|NM_001252274,p.R633C|NM_001105677,p.R476C|ENST00000514019,p.R633C|ENST00000503640,p.R467C|uc003hem.4,p.R467C|uc010iht.3,p.R423C	retained_intron, protein_coding, processed_transcript	uc021xox.1	nonsynonymous SNV	exon5	c.C1294T	p.R432C	LDRAVFWIEFVMRHKGAKHLRVAAH	LDRAVFWIEFVMCHKGAKHLRVAAH	3.0	7.0	unscreened	-	4253_4:70455275-70455275 G>A_LDRAVFWIEFVMCHKGAKHLRVAAH
3:130110381-130110381 G>A	0.0	4253	MELANOMA	-	-	-	-	COL6A5	ENST00000265379,p.G926R|ENST00000312481,p.G926R|uc010htk.2,p.G926R|ENST00000432398,p.G926R|uc010htj.2,p.G926R|NM_153264,p.G926R|NM_001278298,p.G926R	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon7	c.G2776A	p.G926R	QNVKQMLIVITDGESHDHDQLNDTA	QNVKQMLIVITDRESHDHDQLNDTA	2.0	9.0	unscreened	-	4253_3:130110381-130110381 G>A_QNVKQMLIVITDRESHDHDQLNDTA
1:12785440-12785440 C>T	0.0	4253	MELANOMA	-	-	-	-	AADACL3	ENST00000332530,p.S107L|ENST00000359318,p.S177L|uc009vnn.1,p.S177L|uc001aug.1,p.S107L	protein_coding	uc009vnn.1	nonsynonymous SNV	exon4	c.C530T	p.S177L	YAILQALDLQTPSFQQRKNIPLLTW	YAILQALDLQTPLFQQRKNIPLLTW	1.0	4.0	unscreened	-	4253_1:12785440-12785440 C>T_YAILQALDLQTPLFQQRKNIPLLTW
19:4174709-4174709 C>T	1.0	4253	MELANOMA	-	-	-	-	SIRT6	NM_016539,p.G325S|ENST00000381935,p.G253S|ENST00000597896,p.G251S|ENST00000337491,p.G325S|uc002lzr.3,p.G226S|ENST00000305232,p.G298S|uc010xid.2,p.G253S|NM_001193285,p.G298S|uc002lzq.3,p.G298S|uc002lzo.3,p.G325S	retained_intron, protein_coding, nonsense_mediated_decay	uc010xid.2	nonsynonymous SNV	exon7	c.G757A	p.G253S	AGPKQEPCAQHNGSEPASPKRERPT	AGPKQEPCAQHNSSEPASPKRERPT	9.0	2.0	unscreened	-	4253_19:4174709-4174709 C>T_AGPKQEPCAQHNSSEPASPKRERPT
17:10408183-10408183 C>T	0.0	4253	MELANOMA	-	-	-	-	MYH1	uc002gmo.3,p.E879K|ENST00000226207,p.E879K|NM_005963,p.E879K	protein_coding	uc002gmo.3	nonsynonymous SNV	exon22	c.G2635A	p.E879K	LAKTEAKRKELEEKMVTLMQEKNDL	LAKTEAKRKELEKKMVTLMQEKNDL	1.0	5.0	unscreened	-	4253_17:10408183-10408183 C>T_LAKTEAKRKELEKKMVTLMQEKNDL
2:228881963-228881963 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1406009,COSM1406010;OCCURENCE=1(large_intestine)	-	SPHKAP	ENST00000344657,p.E1203K|ENST00000392056,p.E1203K|NM_030623,p.E1203K|NM_001142644,p.E1203K|uc010zlx.1,p.E1203K|uc002vpq.2,p.E1203K|uc002vpp.2,p.E1203K	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.G3607A	p.E1203K	TEEFYRYMLRDIERDSRESASSRRS	TEEFYRYMLRDIKRDSRESASSRRS	1.0	9.0	unscreened	-	4253_2:228881963-228881963 C>T_TEEFYRYMLRDIKRDSRESASSRRS
2:183291355-183291355 C>T	0.0	4253	MELANOMA	-	-	-	-	PDE1A	ENST00000409365,p.M1I|NM_001258313,p.M1I|uc002uor.4,p.M1I|ENST00000351439,p.M1I	protein_coding, processed_transcript	uc002uor.4	nonsynonymous SNV	exon1	c.G3A	p.M1I	MDDHVTIRKKHLQ	IDDHVTIRKKHLQ	5.0	9.0	unscreened	-	4253_2:183291355-183291355 C>T_IDDHVTIRKKHLQ
14:94079352-94079352 G>A	0.0	4253	MELANOMA	-	-	-	-	UNC79	uc001ybs.1,p.E1145K|NM_020818,p.E1145K|ENST00000393151,p.E1322K|ENST00000256339,p.E1145K|ENST00000555664,p.E1322K|ENST00000553484,p.E1344K|uc001ybv.1,p.E1167K	retained_intron, protein_coding	uc001ybv.1	nonsynonymous SNV	exon25	c.G3499A	p.E1167K	RHLYVLLGYDQQEGCFMIAPQKMRL	RHLYVLLGYDQQKGCFMIAPQKMRL	3.0	9.0	unscreened	-	4253_14:94079352-94079352 G>A_RHLYVLLGYDQQKGCFMIAPQKMRL
12:83290062-83290062 G>A	0.0	4253	MELANOMA	-	-	-	-	TMTC2	uc001szr.1,p.E374K|uc010suk.2,p.E129K|ENST00000321196,p.E374K|ENST00000548305,p.E374K|NM_152588,p.E374K|ENST00000549919,p.E368K|uc001szs.1,p.E374K|uc001szt.3,p.E374K	retained_intron, protein_coding	uc010suk.2	nonsynonymous SNV	exon2	c.G385A	p.E129K	NSETKSSFASKVENGIKNDVSQRTQ	NSETKSSFASKVKNGIKNDVSQRTQ	7.0	3.0	unscreened	-	4253_12:83290062-83290062 G>A_NSETKSSFASKVKNGIKNDVSQRTQ
3:113955792-113955792 G>A	0.0	4253	MELANOMA	-	-	ID=COSM225527;OCCURENCE=1(NS)	-	ZNF80	ENST00000482457,p.R44C|uc010hqo.3,p.R44C|ENST00000308095,p.R44C|NM_007136,p.R44C	protein_coding, nonsense_mediated_decay	uc010hqo.3	nonsynonymous SNV	exon1	c.C130T	p.R44C	CDSQGPSKDTLVREGKTYKCKECGS	CDSQGPSKDTLVCEGKTYKCKECGS	1.0	8.0	unscreened	-	4253_3:113955792-113955792 G>A_CDSQGPSKDTLVCEGKTYKCKECGS
2:179439899-179439899 C>T	0.0	4253	MELANOMA	-	-	-	-	TTN	uc031rqc.1,p.E23654K|uc021vtb.2,p.E14589K|uc031rqd.1,p.E22013K|ENST00000342992,p.E21086K|ENST00000591111,p.E22013K|ENST00000589042,p.E23654K|NM_133378,p.E21086K|uc021vsy.2,p.E21086K|uc021vsz.2,p.E14781K|NM_133437,p.E14781K|NM_001267550,p.E23654K|NM_001256850,p.E22013K|NM_133432,p.E14714K|uc021vta.2,p.E14714K|ENST00000359218,p.E14714K|ENST00000342175,p.E14781K|NM_003319,p.E14589K|ENST00000460472,p.E14589K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G66037A	p.E22013K	LVIAKAGDNIKVEIPVLGRPKPTVT	LVIAKAGDNIKVKIPVLGRPKPTVT	5.0	8.0	unscreened	-	4253_2:179439899-179439899 C>T_LVIAKAGDNIKVKIPVLGRPKPTVT
1:175372339-175372339 C>T	0.0	4253	MELANOMA	-	-	-	-	TNR	NM_003285,p.G305R|ENST00000263525,p.G305R|uc010pmz.1,p.G305R|uc009wwu.1,p.G305R|uc001gkp.1,p.G305R|ENST00000367674,p.G305R	protein_coding	uc010pmz.1	nonsynonymous SNV	exon4	c.G913A	p.G305R	GQRQCLNACSGRGQCEEGLCVCEEG	GQRQCLNACSGRRQCEEGLCVCEEG	1.0	2.0	unscreened	-	4253_1:175372339-175372339 C>T_GQRQCLNACSGRRQCEEGLCVCEEG
18:59166512-59166512 G>A	0.0	4253	MELANOMA	-	-	-	-	CDH20	uc002lif.2,p.G108R|ENST00000538374,p.G114R|uc010dps.1,p.G114R|ENST00000262717,p.G114R|NM_031891,p.G114R|ENST00000536675,p.G114R	protein_coding	uc010dps.1	nonsynonymous SNV	exon2	c.G340A	p.G114R	GAGIVFTIDDTTGDIHAIQRLDREE	GAGIVFTIDDTTRDIHAIQRLDREE	3.0	3.0	unscreened	-	4253_18:59166512-59166512 G>A_GAGIVFTIDDTTRDIHAIQRLDREE
11:8942928-8942928 C>T	0.0	4253	MELANOMA	-	-	-	-	C11orf16	ENST00000326053,p.E447K|NM_020643,p.E447K|uc001mhb.4,p.E447K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mhb.4	nonsynonymous SNV	exon6	c.G1339A	p.E447K	ATHMKPPRTPPGEAEHRKRSQSLAI	ATHMKPPRTPPGKAEHRKRSQSLAI	1.0	2.0	unscreened	-	4253_11:8942928-8942928 C>T_ATHMKPPRTPPGKAEHRKRSQSLAI
11:93097393-93097393 G>A	0.0	4253	MELANOMA	-	-	-	-	CCDC67	ENST00000532819,p.R122Q|ENST00000298050,p.R122Q|NM_181645,p.R122Q|ENST00000534747,p.R122Q|uc001pdp.3,p.R122Q|ENST00000530862,p.R122Q|ENST00000531792,p.R122Q|ENST00000531448,p.R122Q|uc001pdo.1,p.R122Q|uc001pdq.3,p.R122Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc001pdq.3	nonsynonymous SNV	exon5	c.G365A	p.R122Q	LRLHQMKQNKVPRKELPHLKEEIPF	LRLHQMKQNKVPQKELPHLKEEIPF	5.0	9.0	unscreened	-	4253_11:93097393-93097393 G>A_LRLHQMKQNKVPQKELPHLKEEIPF
4:25664180-25664180 G>A	0.0	4253	MELANOMA	-	-	-	1	SLC34A2	ENST00000504570,p.G20R|ENST00000513204,p.G20R|NM_001177998,p.G20R|ENST00000382051,p.G20R|ENST00000503434,p.G20R|uc003grs.3,p.G20R|uc003grr.3,p.G20R|ENST00000507530,p.G20R|uc010iev.3,p.G20R|NM_006424,p.G20R|NM_001177999,p.G20R	protein_coding, processed_transcript	uc010iev.3	nonsynonymous SNV	exon2	c.G58A	p.G20R	GDAQPNPDKYLEGAAGQQPTAPDKS	GDAQPNPDKYLERAAGQQPTAPDKS	4.0	9.0	unscreened	-	4253_4:25664180-25664180 G>A_GDAQPNPDKYLERAAGQQPTAPDKS
17:7907020-7907020 G>A	0.0	4253	MELANOMA	-	-	-	-	GUCY2D	NM_000180,p.E219K|ENST00000254854,p.E219K|uc002gjt.2,p.E219K	retained_intron, protein_coding	uc002gjt.2	nonsynonymous SNV	exon2	c.G655A	p.E219K	ARGLPVASVTSMEPLDLSGAREALR	ARGLPVASVTSMKPLDLSGAREALR	3.0	6.0	unscreened	-	4253_17:7907020-7907020 G>A_ARGLPVASVTSMKPLDLSGAREALR
1:160924188-160924188 C>T	0.0	4253	MELANOMA	-	-	-	-	ITLN2	uc009wts.3,p.G23E	protein_coding, processed_transcript	uc009wts.3	nonsynonymous SNV	exon2	c.G68A	p.G23E	LCFLLFFSVATSGCSAAASSLEMLS	LCFLLFFSVATSECSAAASSLEMLS	2.0	5.0	unscreened	-	4253_1:160924188-160924188 C>T_LCFLLFFSVATSECSAAASSLEMLS
11:43356901-43356901 T>C	1.0	4253	MELANOMA	-	-	-	-	API5	ENST00000455725,p.I440T|uc010rfi.1,p.I397T|uc001mxf.2,p.I451T|ENST00000420461,p.I397T|NM_001142931,p.I397T|uc021qgi.1,p.I278T|NM_006595,p.I451T|ENST00000378852,p.I451T|ENST00000526394,p.I266T|ENST00000531273,p.I451T|uc010rfg.1,p.I440T|ENST00000534600,p.I451T|NM_001142930,p.I451T|uc010rfh.1,p.I451T|NM_001243747,p.I278T|uc001mxg.3,p.I325T	retained_intron, protein_coding, processed_transcript	uc021qgi.1	nonsynonymous SNV	exon9	c.T833C	p.I278T	VTLSWKPVQKVEIGQKRASEDTTSG	VTLSWKPVQKVETGQKRASEDTTSG	8.0	2.0	unscreened	-	4253_11:43356901-43356901 T>C_VTLSWKPVQKVETGQKRASEDTTSG
20:5903718-5903718 G>A	1.0	4253	MELANOMA	-	-	-	-	CHGB	ENST00000378961,p.E310K|uc002wmg.3,p.E310K|NM_001819,p.E310K	protein_coding, processed_transcript	uc002wmg.3	nonsynonymous SNV	exon4	c.G928A	p.E310K	SLPSEEKGHPQEESEESNVSMASLG	SLPSEEKGHPQEKSEESNVSMASLG	4.0	7.0	unscreened	-	4253_20:5903718-5903718 G>A_SLPSEEKGHPQEKSEESNVSMASLG
8:55539813-55539813 C>T	0.0	4253	MELANOMA	-	-	-	-	RP1	uc003xsd.1,p.S1124L|ENST00000220676,p.S1124L|NM_006269,p.S1124L	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.C3371T	p.S1124L	LAGVPFHSAICNSSTNLLLAWLLVL	LAGVPFHSAICNLSTNLLLAWLLVL	1.0	4.0	unscreened	-	4253_8:55539813-55539813 C>T_LAGVPFHSAICNLSTNLLLAWLLVL
4:138452606-138452606 C>T	0.0	4253	MELANOMA	-	-	-	-	PCDH18	uc003ihf.4,p.E206K|NM_019035,p.E213K|ENST00000344876,p.E213K|uc003ihe.4,p.E213K|NM_001300828,p.E213K|ENST00000412923,p.E213K	protein_coding	uc003ihf.4	nonsynonymous SNV	exon1	c.G616A	p.E206K	VRELDRELKSSYELQLTASDMGVPQ	VRELDRELKSSYKLQLTASDMGVPQ	6.0	6.0	unscreened	-	4253_4:138452606-138452606 C>T_VRELDRELKSSYKLQLTASDMGVPQ
14:71444573-71444573 C>T	1.0	4253	MELANOMA	-	-	-	-	PCNX	NM_014982,p.P507S|ENST00000304743,p.P507S|ENST00000439984,p.P507S|uc001xmo.2,p.P507S|uc010are.1,p.P507S|ENST00000238570,p.P507S|uc001xmn.4,p.P507S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010are.1	nonsynonymous SNV	exon6	c.C1519T	p.P507S	HANEFTSQGDRPPGNTAENKEEKSD	HANEFTSQGDRPSGNTAENKEEKSD	9.0	2.0	unscreened	-	4253_14:71444573-71444573 C>T_HANEFTSQGDRPSGNTAENKEEKSD
21:45678417-45678417 C>T	0.0	4253	MELANOMA	-	-	-	-	DNMT3L	uc002zeh.2,p.D169N|ENST00000418993,p.D169N|uc002zeg.2,p.D169N|ENST00000431166,p.D154N|NM_013369,p.D169N|ENST00000270172,p.D169N|NM_175867,p.D169N	protein_coding	uc002zeh.2	nonsynonymous SNV	exon6	c.G505A	p.D169N	RRKWRSQLKAFYDRESENPLEMFET	RRKWRSQLKAFYNRESENPLEMFET	3.0	2.0	unscreened	-	4253_21:45678417-45678417 C>T_RRKWRSQLKAFYNRESENPLEMFET
19:4174708-4174708 C>T	1.0	4253	MELANOMA	-	-	-	-	SIRT6	uc010xid.2,p.G253D|NM_016539,p.G325D|uc002lzr.3,p.G226D|ENST00000597896,p.G251D|ENST00000337491,p.G325D|ENST00000381935,p.G253D|ENST00000305232,p.G298D|uc002lzo.3,p.G325D|uc002lzq.3,p.G298D|NM_001193285,p.G298D	retained_intron, protein_coding, nonsense_mediated_decay	uc010xid.2	nonsynonymous SNV	exon7	c.G758A	p.G253D	AGPKQEPCAQHNGSEPASPKRERPT	AGPKQEPCAQHNDSEPASPKRERPT	9.0	2.0	unscreened	-	4253_19:4174708-4174708 C>T_AGPKQEPCAQHNDSEPASPKRERPT
3:42573794-42573794 G>A	0.0	4253	MELANOMA	-	-	-	-	VIPR1	uc021wwl.1,p.D286N|NM_004624,p.D327N|uc011azn.2,p.D300N|uc011azm.1,p.D117N|ENST00000543411,p.D279N|NM_001251882,p.D286N|ENST00000433647,p.D286N|NM_001251885,p.D300N|ENST00000325123,p.D327N|ENST00000438259,p.D117N|NM_001251883,p.D117N|uc011azl.1,p.D279N|uc003clf.2,p.D327N|NM_001251884,p.D279N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wwl.1	nonsynonymous SNV	exon11	c.G856A	p.D286N	IIRILLQKLRPPDIRKSDSSPYSRL	IIRILLQKLRPPNIRKSDSSPYSRL	2.0	9.0	unscreened	-	4253_3:42573794-42573794 G>A_IIRILLQKLRPPNIRKSDSSPYSRL
7:64167982-64167982 C>T	0.0	4253	MELANOMA	-	-	-	-	ZNF107	ENST00000344930,p.H434Y|NM_016220,p.H434Y|NM_001282359,p.H503Y|NM_001013746,p.H434Y|ENST00000395391,p.H434Y|uc003ttd.3,p.H434Y|NM_001282360,p.H471Y|uc003tte.3,p.H434Y|ENST00000423627,p.H434Y	protein_coding	uc003tte.3	nonsynonymous SNV	exon5	c.C1300T	p.H434Y	NRSSTLTRHKKIHTGEKPYKCEECD	NRSSTLTRHKKIYTGEKPYKCEECD	6.0	5.0	unscreened	-	4253_7:64167982-64167982 C>T_NRSSTLTRHKKIYTGEKPYKCEECD
7:107417125-107417125 A>T	0.0	4253	MELANOMA	-	-	-	-	SLC26A3	ENST00000422236,p.I479N|uc003ves.2,p.I479N|ENST00000340010,p.I514N|NM_000111,p.I514N|uc003ver.2,p.I514N	retained_intron, protein_coding, nonsense_mediated_decay	uc003ves.2	nonsynonymous SNV	exon14	c.T1436A	p.I479N	RTQFPKCSTLANIGRTNIYKNKKDY	RTQFPKCSTLANNGRTNIYKNKKDY	1.0	4.0	unscreened	-	4253_7:107417125-107417125 A>T_RTQFPKCSTLANNGRTNIYKNKKDY
11:77921110-77921110 G>A	1.0	4253	MELANOMA	-	-	-	-	USP35	ENST00000526425,p.G468R|uc001ozd.3,p.G348R|ENST00000441408,p.G323R|uc001oze.2,p.G493R|NM_020798,p.G737R|uc001ozf.3,p.G468R|uc001ozc.3,p.G305R|uc021qny.1,p.G737R|uc010rsp.2,p.G169R|ENST00000529308,p.G737R|ENST00000530267,p.G305R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qny.1	nonsynonymous SNV	exon10	c.G2209A	p.G737R	KEAEQEKEEDSLGAGTHPDAAIPSG	KEAEQEKEEDSLRAGTHPDAAIPSG	6.0	8.0	unscreened	-	4253_11:77921110-77921110 G>A_KEAEQEKEEDSLRAGTHPDAAIPSG
20:9538288-9538288 T>A	0.0	4253	MELANOMA	-	-	-	-	PAK7	uc002wnk.2,p.K570N|uc002wnl.2,p.K570N|ENST00000378423,p.K570N|ENST00000353224,p.K570N|NM_020341,p.K570N|uc002wnj.2,p.K570N|NM_177990,p.K570N|ENST00000378429,p.K570N	protein_coding	uc002wnl.2	nonsynonymous SNV	exon8	c.A1710T	p.K570N	YLHNQGVIHRDIKSDSILLTSDGRI	YLHNQGVIHRDINSDSILLTSDGRI	4.0	7.0	unscreened	-	4253_20:9538288-9538288 T>A_YLHNQGVIHRDINSDSILLTSDGRI
3:167016230-167016230 G>A	0.0	4253	MELANOMA	-	-	-	-	ZBBX	uc003fep.3,p.A581V|NM_024687,p.A581V|ENST00000392764,p.A552V|ENST00000392766,p.A581V|NM_001199201,p.A581V|uc011bpc.2,p.A581V|ENST00000307529,p.A581V|uc003feq.3,p.A552V|NM_001199202,p.A552V|ENST00000392767,p.A581V|ENST00000455345,p.A581V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bpc.2	nonsynonymous SNV	exon18	c.C1742T	p.A581V	KTTKSSLLLQEIACRSKPITKQYQG	KTTKSSLLLQEIVCRSKPITKQYQG	1.0	8.0	unscreened	-	4253_3:167016230-167016230 G>A_KTTKSSLLLQEIVCRSKPITKQYQG
10:96827032-96827032 C>T	0.0	4253	MELANOMA	-	-	-	2	CYP2C8	ENST00000525991,p.E97K	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000525991	nonsynonymous SNV	exon2	c.G289A	p.E97K	LPHNLAEFWDGEEEH	LPHNLAEFWDGEKEH	2.0	9.0	unscreened	-	4253_10:96827032-96827032 C>T_LPHNLAEFWDGEKEH
20:9538288-9538288 T>A	0.0	4253	MELANOMA	-	-	-	-	PAK7	uc010gby.1,p.K570N	protein_coding	uc010gby.1	nonsynonymous SNV	exon7	c.A1710T	p.K570N	YLHNQGVIHRDIKSDSILLTSDGRV	YLHNQGVIHRDINSDSILLTSDGRV	4.0	7.0	unscreened	-	4253_20:9538288-9538288 T>A_YLHNQGVIHRDINSDSILLTSDGRV
5:156590023-156590023 G>A	0.0	4253	MELANOMA	-	-	-	-	FAM71B	ENST00000302938,p.S418F|uc003lwn.3,p.S418F|NM_130899,p.S418F	protein_coding	uc003lwn.3	nonsynonymous SNV	exon2	c.C1253T	p.S418F	GYMSERDGSQKVSQPSAEVWNENKE	GYMSERDGSQKVFQPSAEVWNENKE	1.0	4.0	unscreened	-	4253_5:156590023-156590023 G>A_GYMSERDGSQKVFQPSAEVWNENKE
10:28260037-28260037 C>T	0.0	4253	MELANOMA	-	-	-	-	ARMC4	uc010qdu.1,p.G73D|uc009xky.3,p.G381D|ENST00000434029,p.G275D|uc010qdt.2,p.G73D|ENST00000305242,p.G381D|NM_018076,p.G381D|uc001itz.3,p.G381D|ENST00000537576,p.G73D|NM_001290020,p.G381D|ENST00000239715,p.G238D	protein_coding, processed_transcript	uc010qdu.1	nonsynonymous SNV	exon3	c.G218A	p.G73D	PSLNWKTTVNYKGKGSAKEIQEDKH	PSLNWKTTVNYKDKGSAKEIQEDKH	1.0	9.0	unscreened	-	4253_10:28260037-28260037 C>T_PSLNWKTTVNYKDKGSAKEIQEDKH
11:129321199-129321199 G>A	0.0	4253	MELANOMA	-	-	-	-	BARX2	NM_003658,p.E248K|ENST00000526127,p.E103K|ENST00000281437,p.E248K|ENST00000531946,p.E126K|uc001qfc.4,p.E248K	protein_coding	uc001qfc.4	nonsynonymous SNV	exon4	c.G742A	p.E248K	PSQGQEELCEAQEPKARDVPLEMAE	PSQGQEELCEAQKPKARDVPLEMAE	2.0	2.0	unscreened	-	4253_11:129321199-129321199 G>A_PSQGQEELCEAQKPKARDVPLEMAE
19:14761944-14761944 T>C	0.0	4253	MELANOMA	-	-	-	-	EMR3	NM_032571,p.N217S|NM_001289158,p.N165S|ENST00000443157,p.N91S|uc010xnv.2,p.N91S|uc002mzi.4,p.N217S|NM_001289159,p.N91S|ENST00000253673,p.N217S|uc010dzp.3,p.N165S|ENST00000344373,p.N165S	protein_coding	uc010xnv.2	nonsynonymous SNV	exon4	c.A272G	p.N91S	EERKTFNLNVQMNSMDIRCSDIIQG	EERKTFNLNVQMSSMDIRCSDIIQG	1.0	2.0	unscreened	-	4253_19:14761944-14761944 T>C_EERKTFNLNVQMSSMDIRCSDIIQG
16:87417235-87417235 G>A	0.0	4253	MELANOMA	-	-	-	-	FBXO31	NM_024735,p.P39L|ENST00000311635,p.P39L|ENST00000565593,p.P39L|uc002fjw.3,p.P39L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002fjw.3	nonsynonymous SNV	exon1	c.C116T	p.P39L	ETAAADSEPDTDPEEERIEASAGVG	ETAAADSEPDTDLEEERIEASAGVG	8.0	4.0	unscreened	-	4253_16:87417235-87417235 G>A_ETAAADSEPDTDLEEERIEASAGVG
16:18896427-18896427 T>A	0.0	4253	MELANOMA	-	-	-	-	SMG1	uc010bwb.3,p.T196S|ENST00000389467,p.T336S|ENST00000565224,p.T310S|uc002dfm.3,p.T336S|ENST00000565324,p.T226S|ENST00000446231,p.T336S|ENST00000532700,p.T310S|NM_015092,p.T336S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bwb.3	nonsynonymous SNV	exon6	c.A586T	p.T196S	GWHIDHTQKPSLTQQVSGWLQSLEP	GWHIDHTQKPSLSQQVSGWLQSLEP	7.0	4.0	unscreened	-	4253_16:18896427-18896427 T>A_GWHIDHTQKPSLSQQVSGWLQSLEP
7:101844676-101844676 G>A	0.0	4253	MELANOMA	-	-	-	1	CUX1	uc003uyx.4,p.G700E|NM_001202543,p.G711E|ENST00000550008,p.G644E|ENST00000556210,p.G542E|ENST00000549414,p.G678E|ENST00000546411,p.G598E|ENST00000292535,p.G700E|ENST00000360264,p.G711E|uc003uys.4,p.G711E|NM_181552,p.G700E	retained_intron, protein_coding, processed_transcript	uc003uyx.4	nonsynonymous SNV	exon18	c.G2099A	p.G700E	AEPAQPSSASGSGNSDDAIRSILQQ	AEPAQPSSASGSENSDDAIRSILQQ	8.0	4.0	unscreened	-	4253_7:101844676-101844676 G>A_AEPAQPSSASGSENSDDAIRSILQQ
11:67190928-67190928 G>A	0.0	4253	MELANOMA	-	-	-	-	CARNS1	ENST00000531040,p.R544Q|uc001olc.4,p.R586Q|NM_001166222,p.R570Q|uc009yrp.3,p.R447Q|ENST00000445895,p.R570Q|uc010rpr.2,p.R570Q|ENST00000423745,p.R447Q|ENST00000307823,p.R447Q|NM_020811,p.R447Q	retained_intron, protein_coding, processed_transcript	uc010rpr.2	nonsynonymous SNV	exon10	c.G1709A	p.R570Q	VQTFIHFDMTEHRRDEENARLLAEL	VQTFIHFDMTEHQRDEENARLLAEL	3.0	2.0	unscreened	-	4253_11:67190928-67190928 G>A_VQTFIHFDMTEHQRDEENARLLAEL
3:150377822-150377822 G>A	0.0	4253	MELANOMA	-	-	-	-	ERICH6	uc003eyg.3,p.P617S|uc003eyh.3,p.P471S|ENST00000295910,p.P617S|NM_152394,p.P617S|ENST00000491361,p.P471S	retained_intron, protein_coding	uc003eyh.3	nonsynonymous SNV	exon14	c.C1411T	p.P471S	RLFHKLEGCVNFPSSQVWEKLKQPS	RLFHKLEGCVNFSSSQVWEKLKQPS	1.0	2.0	unscreened	-	4253_3:150377822-150377822 G>A_RLFHKLEGCVNFSSSQVWEKLKQPS
14:93264296-93264296 G>A	1.0	4253	MELANOMA	-	-	-	1	GOLGA5	NM_005113,p.E172K|ENST00000355976,p.E172K|uc001yaz.1,p.E172K|ENST00000163416,p.E172K	retained_intron, protein_coding	uc001yaz.1	nonsynonymous SNV	exon2	c.G514A	p.E172K	SVNPSVTTIKTIEENSFGSQTHEAA	SVNPSVTTIKTIKENSFGSQTHEAA	9.0	2.0	unscreened	-	4253_14:93264296-93264296 G>A_SVNPSVTTIKTIKENSFGSQTHEAA
16:82033749-82033749 C>T	0.0	4253	MELANOMA	-	-	-	-	SDR42E1	uc002fgu.3,p.G50E|ENST00000532128,p.G47E|ENST00000328945,p.G50E|NM_145168,p.G50E	protein_coding, ambiguous_orf	uc002fgu.3	nonsynonymous SNV	exon3	c.G149A	p.G50E	FDISSPAQTIPEGIKFIQGDIRHLS	FDISSPAQTIPEEIKFIQGDIRHLS	3.0	7.0	unscreened	-	4253_16:82033749-82033749 C>T_FDISSPAQTIPEEIKFIQGDIRHLS
1:160924188-160924188 C>T	0.0	4253	MELANOMA	-	-	-	-	ITLN2	NM_080878,p.G23E|ENST00000368029,p.G23E|uc001fxd.3,p.G23E	protein_coding, processed_transcript	uc001fxd.3	nonsynonymous SNV	exon2	c.G68A	p.G23E	LCFLLFFSVATSGCSAAAASSLEML	LCFLLFFSVATSECSAAAASSLEML	2.0	5.0	unscreened	-	4253_1:160924188-160924188 C>T_LCFLLFFSVATSECSAAAASSLEML
4:71068012-71068012 C>T	0.0	4253	MELANOMA	-	-	-	-	ODAM	uc003hfc.3,p.P205L|ENST00000510709,p.P191L|ENST00000514097,p.P142L|NM_017855,p.P205L|ENST00000396094,p.P205L	retained_intron, protein_coding, nonsense_mediated_decay	uc003hfc.3	nonsynonymous SNV	exon8	c.C614T	p.P205L	AISGGQQQLAFDPQLGTAPEIAVMS	AISGGQQQLAFDLQLGTAPEIAVMS	2.0	5.0	unscreened	-	4253_4:71068012-71068012 C>T_AISGGQQQLAFDLQLGTAPEIAVMS
19:39591485-39591485 G>A	0.0	4253	MELANOMA	-	-	-	-	PAPL	uc002oki.3,p.D267N|ENST00000331256,p.D267N|NM_001004318,p.D267N	protein_coding, nonsense_mediated_decay	uc002oki.3	nonsynonymous SNV	exon7	c.G799A	p.D267N	HLVQRQFRWLESDLQKANKNRAARP	HLVQRQFRWLESNLQKANKNRAARP	2.0	9.0	unscreened	-	4253_19:39591485-39591485 G>A_HLVQRQFRWLESNLQKANKNRAARP
18:61234236-61234236 T>C	0.0	4253	MELANOMA	-	-	-	-	SERPINB12	ENST00000382768,p.S424P|uc010xeo.2,p.S424P|ENST00000269491,p.S404P|NM_080474,p.S404P|uc010xen.2,p.S404P	protein_coding	uc010xeo.2	nonsynonymous SNV	exon7	c.T1270C	p.S424P	KTQTILFYGRVCSP	KTQTILFYGRVCPP	1.0	9.0	unscreened	-	4253_18:61234236-61234236 T>C_KTQTILFYGRVCPP
14:23862904-23862904 C>T	0.0	4253	MELANOMA	-	-	-	-	MYH6	uc001wjv.3,p.E967K|NM_002471,p.E967K|ENST00000356287,p.E967K|ENST00000405093,p.E967K	retained_intron, protein_coding	uc001wjv.3	nonsynonymous SNV	exon22	c.G2899A	p.E967K	DIDDLELTLAKVEKEKHATENKVKN	DIDDLELTLAKVKKEKHATENKVKN	1.0	9.0	unscreened	-	4253_14:23862904-23862904 C>T_DIDDLELTLAKVKKEKHATENKVKN
12:106461344-106461344 C>T	0.0	4253	MELANOMA	-	-	ID=COSM934338,COSM934339;OCCURENCE=1(endometrium)	-	NUAK1	NM_014840,p.E408K|ENST00000261402,p.E408K|uc001tlj.1,p.E408K	protein_coding	uc001tlj.1	nonsynonymous SNV	exon7	c.G1222A	p.E408K	RPKGILKKRSNSEHRSHSTGFIEGV	RPKGILKKRSNSKHRSHSTGFIEGV	6.0	8.0	unscreened	-	4253_12:106461344-106461344 C>T_RPKGILKKRSNSKHRSHSTGFIEGV
6:54805826-54805826 G>A	0.0	4253	MELANOMA	-	-	-	-	FAM83B	uc003pck.4,p.S686N|NM_001010872,p.S686N|ENST00000306858,p.S686N	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.G2057A	p.S686N	NLDPGNSKHYVYSTLTRNRVRQPEK	NLDPGNSKHYVYNTLTRNRVRQPEK	1.0	3.0	unscreened	-	4253_6:54805826-54805826 G>A_NLDPGNSKHYVYNTLTRNRVRQPEK
11:12315604-12315604 G>A	0.0	4253	MELANOMA	-	-	-	-	MICALCL	NM_032867,p.R209Q|ENST00000256186,p.R209Q|uc001mkg.1,p.R209Q	protein_coding, processed_transcript	uc001mkg.1	nonsynonymous SNV	exon3	c.G626A	p.R209Q	SIPESVHLKAGERISQKSAENGRGG	SIPESVHLKAGEQISQKSAENGRGG	1.0	9.0	unscreened	-	4253_11:12315604-12315604 G>A_SIPESVHLKAGEQISQKSAENGRGG
14:20389647-20389647 G>A	0.0	4253	MELANOMA	-	-	-	-	OR4K5	NM_001005483,p.M294I|uc010tkw.2,p.M294I|ENST00000315915,p.M294I	protein_coding	uc010tkw.2	nonsynonymous SNV	exon1	c.G882A	p.M294I	LNPIIYTLRNRDMKAAVRKIVNHYL	LNPIIYTLRNRDIKAAVRKIVNHYL	1.0	8.0	unscreened	-	4253_14:20389647-20389647 G>A_LNPIIYTLRNRDIKAAVRKIVNHYL
19:15839556-15839556 C>T	0.0	4253	MELANOMA	-	-	-	-	OR10H2	uc002nbm.2,p.R235W|ENST00000305899,p.R235W|NM_013939,p.R235W	protein_coding	uc002nbm.2	nonsynonymous SNV	exon1	c.C703T	p.R235W	VADILKIPSAEGRNKAFSTCASHLI	VADILKIPSAEGWNKAFSTCASHLI	1.0	8.0	unscreened	-	4253_19:15839556-15839556 C>T_VADILKIPSAEGWNKAFSTCASHLI
3:111899443-111899443 C>T	0.0	4253	MELANOMA	-	-	-	-	SLC9C1	uc010hqc.3,p.G858R|ENST00000305815,p.G906R|uc011bhu.2,p.G169R|uc003dyu.3,p.G906R|ENST00000487372,p.G858R|NM_183061,p.G906R	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bhu.2	nonsynonymous SNV	exon15	c.G505A	p.G169R	GNDIFEEGDEPKGIYIIISGMVKLE	GNDIFEEGDEPKRIYIIISGMVKLE	1.0	7.0	unscreened	-	4253_3:111899443-111899443 C>T_GNDIFEEGDEPKRIYIIISGMVKLE
2:162280641-162280641 C>T	0.0	4253	MELANOMA	-	-	-	-	TBR1	ENST00000410035,p.S364L|uc010foy.2,p.S364L|uc002ubw.1,p.S651L|ENST00000389554,p.S651L|NM_006593,p.S651L	retained_intron, protein_coding, processed_transcript	uc010foy.2	nonsynonymous SNV	exon5	c.C1091T	p.S364L	RISPADTPVSESSSPLKSEVLAQRD	RISPADTPVSESLSPLKSEVLAQRD	1.0	2.0	unscreened	-	4253_2:162280641-162280641 C>T_RISPADTPVSESLSPLKSEVLAQRD
7:107115392-107115392 G>A	0.0	4253	MELANOMA	-	-	-	-	GPR22	uc003vef.3,p.R296Q|NM_005295,p.R296Q|ENST00000304402,p.R296Q|uc022ajv.1,p.R296Q	retained_intron, protein_coding, processed_transcript	uc022ajv.1	nonsynonymous SNV	exon1	c.G887A	p.R296Q	VRTSVSVIIALRRAVKRHRERRERQ	VRTSVSVIIALRQAVKRHRERRERQ	1.0	3.0	unscreened	-	4253_7:107115392-107115392 G>A_VRTSVSVIIALRQAVKRHRERRERQ
8:38369985-38369985 G>A	0.0	4253	MELANOMA	-	-	-	-	C8orf86	ENST00000358138,p.P198S|uc003xlx.1,p.P198S|NM_207412,p.P198S	protein_coding	uc003xlx.1	nonsynonymous SNV	exon3	c.C592T	p.P198S	IGNAHSPAPPRTPELETLGWDKQAV	IGNAHSPAPPRTSELETLGWDKQAV	1.0	5.0	unscreened	-	4253_8:38369985-38369985 G>A_IGNAHSPAPPRTSELETLGWDKQAV
7:12391265-12391265 C>T	0.0	4253	MELANOMA	-	-	-	-	VWDE	NM_001135924,p.E1274K|uc011jxm.1,p.E728K|ENST00000275358,p.E1274K|uc003ssj.2,p.E1274K	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxm.1	nonsynonymous SNV	exon16	c.G2182A	p.E728K	VVLTRSDKSVNKEEDDKNAQGRKRH	VVLTRSDKSVNKKEDDKNAQGRKRH	1.0	9.0	unscreened	-	4253_7:12391265-12391265 C>T_VVLTRSDKSVNKKEDDKNAQGRKRH
7:147092758-147092758 G>A	0.0	4253	MELANOMA	-	-	-	2	CNTNAP2	uc003weu.2,p.G519E|NM_014141,p.G519E|ENST00000361727,p.G519E	protein_coding, processed_transcript	uc003weu.2	nonsynonymous SNV	exon10	c.G1556A	p.G519E	NSSHSVLQPSFQGCMQLIQVDDQLV	NSSHSVLQPSFQECMQLIQVDDQLV	1.0	4.0	unscreened	-	4253_7:147092758-147092758 G>A_NSSHSVLQPSFQECMQLIQVDDQLV
15:38805115-38805115 C>T	0.0	4253	MELANOMA	-	-	-	-	RASGRP1	ENST00000450598,p.E240K|ENST00000414708,p.E240K|ENST00000559830,p.E240K|uc001zkd.4,p.E240K|uc010bbf.3,p.E102K|ENST00000561180,p.E291K|ENST00000558432,p.E254K|uc010bbg.3,p.E102K|ENST00000558164,p.E240K|ENST00000539159,p.E192K|NM_005739,p.E240K|ENST00000310803,p.E240K|NM_001128602,p.E240K|uc001zke.4,p.E240K	protein_coding, nonsense_mediated_decay	uc010bbg.3	nonsynonymous SNV	exon4	c.G304A	p.E102K	DYQNYLVNSCVKENPTMERSIALCN	DYQNYLVNSCVKKNPTMERSIALCN	5.0	3.0	unscreened	-	4253_15:38805115-38805115 C>T_DYQNYLVNSCVKKNPTMERSIALCN
22:32330345-32330345 G>A	0.0	4253	MELANOMA	-	-	-	-	C22orf24	uc003aly.3,p.P81L|ENST00000543051,p.P148L|ENST00000248984,p.P81L|NM_015372,p.P81L	retained_intron, protein_coding, processed_transcript	uc003aly.3	nonsynonymous SNV	exon3	c.C242T	p.P81L	VGTCPSPQSWISPFLQSHREHHYAK	VGTCPSPQSWISLFLQSHREHHYAK	3.0	6.0	unscreened	-	4253_22:32330345-32330345 G>A_VGTCPSPQSWISLFLQSHREHHYAK
12:57649830-57649830 G>A	1.0	4253	MELANOMA	-	-	-	-	R3HDM2	ENST00000548161,p.R257W	retained_intron, protein_coding, processed_transcript	ENST00000548161	nonsynonymous SNV	exon6	c.C769T	p.R257W	MLKGQSGLKHGNRGKRQALKSAS	MLKGQSGLKHGNWGKRQALKSAS	9.0	2.0	unscreened	-	4253_12:57649830-57649830 G>A_MLKGQSGLKHGNWGKRQALKSAS
3:36527707-36527707 C>T	0.0	4253	MELANOMA	-	-	-	-	STAC	ENST00000273183,p.S218F|uc011aya.1,p.S157F|uc003cgh.1,p.S218F|NM_001292049,p.S157F|ENST00000434649,p.S146F|ENST00000457375,p.S157F|NM_003149,p.S218F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aya.1	nonsynonymous SNV	exon3	c.C470T	p.S157F	GTSLAQRTKKGSSGSGSDSPHRTST	GTSLAQRTKKGSFGSGSDSPHRTST	5.0	9.0	unscreened	-	4253_3:36527707-36527707 C>T_GTSLAQRTKKGSFGSGSDSPHRTST
4:166408685-166408685 T>C	1.0	4253	MELANOMA	-	-	-	-	CPE	NM_001873,p.Y357H|uc003irg.4,p.Y357H|ENST00000402744,p.Y357H	protein_coding, nonsense_mediated_decay	uc003irg.4	nonsynonymous SNV	exon6	c.T1069C	p.Y357H	CEKFPPEETLKTYWEDNKNSLISYL	CEKFPPEETLKTHWEDNKNSLISYL	7.0	7.0	unscreened	-	4253_4:166408685-166408685 T>C_CEKFPPEETLKTHWEDNKNSLISYL
7:87737546-87737546 T>C	0.0	4253	MELANOMA	-	-	-	-	ADAM22	ENST00000265727,p.V149A|ENST00000398203,p.V116A|uc003ujl.2,p.V149A|uc003ujk.2,p.V149A|NM_016351,p.V149A|uc003ujo.3,p.V149A|ENST00000398204,p.V149A|NM_021723,p.V149A|NM_004194,p.V149A|uc003ujp.1,p.V201A|NM_021722,p.V149A|NM_021721,p.V149A|ENST00000398209,p.V149A|uc003ujj.2,p.V149A|uc003ujm.3,p.V149A|ENST00000412441,p.V166A|ENST00000439864,p.V149A|uc003uji.2,p.V148A|uc003ujn.3,p.V149A|ENST00000398201,p.V149A|ENST00000315984,p.V149A	protein_coding, processed_transcript	uc003ujp.1	nonsynonymous SNV	exon4	c.T602C	p.V201A	YQGHIRGNPDSFVALSTCHGLHGMF	YQGHIRGNPDSFAALSTCHGLHGMF	5.0	4.0	unscreened	-	4253_7:87737546-87737546 T>C_YQGHIRGNPDSFAALSTCHGLHGMF
11:4594575-4594575 G>A	0.0	4253	MELANOMA	-	-	-	-	C11orf40	ENST00000307616,p.T90I|uc010qyg.2,p.T90I|NM_144663,p.T90I	protein_coding	uc010qyg.2	nonsynonymous SNV	exon2	c.C269T	p.T90I	VPSSVVMGDNGHTLAEDDKRPCFRV	VPSSVVMGDNGHILAEDDKRPCFRV	1.0	3.0	unscreened	-	4253_11:4594575-4594575 G>A_VPSSVVMGDNGHILAEDDKRPCFRV
6:30994058-30994058 G>A	0.0	4253	MELANOMA	-	-	-	-	MUC22	uc021yuh.1,p.A287T|NM_001198815,p.A284T|uc021yug.1,p.A284T|ENST00000561890,p.A284T	protein_coding	uc021yuh.1	nonsynonymous SNV	exon3	c.G859A	p.A287T	TTGSETTTILIKASETTTASTAGSE	TTGSETTTILIKTSETTTASTAGSE	1.0	3.0	unscreened	-	4253_6:30994058-30994058 G>A_TTGSETTTILIKTSETTTASTAGSE
17:10429125-10429125 G>A	0.0	4253	MELANOMA	-	-	-	-	MYH2	uc010coi.3,p.S1419F|NM_017534,p.S1419F|ENST00000397183,p.S1419F|uc002gmp.4,p.S1419F|ENST00000245503,p.S1419F|NM_001100112,p.S1419F	protein_coding	uc010coi.3	nonsynonymous SNV	exon31	c.C4256T	p.S1419F	EEHVEAVNAKCASLEKTKQRLQNEV	EEHVEAVNAKCAFLEKTKQRLQNEV	2.0	7.0	unscreened	-	4253_17:10429125-10429125 G>A_EEHVEAVNAKCAFLEKTKQRLQNEV
1:176992683-176992683 C>T	0.0	4253	MELANOMA	-	-	-	-	ASTN1	uc009wwx.1,p.G432E|ENST00000367657,p.G432E|uc001glb.1,p.G432E|NM_004319,p.G432E|ENST00000367654,p.G432E|NM_207108,p.G432E|NM_001286164,p.G432E|ENST00000361833,p.G432E|uc001glc.3,p.G432E|uc001gld.1,p.G432E|ENST00000424564,p.G432E	protein_coding, processed_transcript	uc009wwx.1	nonsynonymous SNV	exon7	c.G1295A	p.G432E	LIADGSRFILLEGSQLDASDWLNPA	LIADGSRFILLEESQLDASDWLNPA	4.0	3.0	unscreened	-	4253_1:176992683-176992683 C>T_LIADGSRFILLEESQLDASDWLNPA
20:2552871-2552871 G>A	0.0	4253	MELANOMA	-	-	-	-	TMC2	uc002wgg.1,p.G185R|NM_080751,p.G201R|uc010zpx.1,p.G32R|uc002wgf.1,p.G201R|ENST00000358864,p.G201R|uc010zpw.1,p.G33R	protein_coding, processed_transcript	uc010zpx.1	nonsynonymous SNV	exon3	c.G94A	p.G32R	EFVEKYEGALGKGKGKQLYAYKMLM	EFVEKYEGALGKRKGKQLYAYKMLM	1.0	7.0	unscreened	-	4253_20:2552871-2552871 G>A_EFVEKYEGALGKRKGKQLYAYKMLM
19:6897289-6897289 G>A	0.0	4253	MELANOMA	-	-	-	-	EMR1	ENST00000450315,p.G123E|NM_001256253,p.G123E|uc002mfw.4,p.G123E|ENST00000595026,p.G89E|uc010xjj.3,p.G123E|NM_001974,p.G123E|ENST00000312053,p.G123E|uc010dvc.4,p.G123E|NM_001256255,p.G123E|ENST00000250572,p.G123E	retained_intron, protein_coding, processed_transcript	uc010xjj.3	nonsynonymous SNV	exon4	c.G368A	p.G123E	GFSSPTGNDWVPGKPGNFSCTDINE	GFSSPTGNDWVPEKPGNFSCTDINE	5.0	2.0	unscreened	-	4253_19:6897289-6897289 G>A_GFSSPTGNDWVPEKPGNFSCTDINE
3:111899442-111899442 C>G	0.0	4253	MELANOMA	-	-	-	-	SLC9C1	uc011bhu.2,p.G169A|uc010hqc.3,p.G858A|ENST00000305815,p.G906A|ENST00000487372,p.G858A|NM_183061,p.G906A|uc003dyu.3,p.G906A	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bhu.2	nonsynonymous SNV	exon15	c.G506C	p.G169A	GNDIFEEGDEPKGIYIIISGMVKLE	GNDIFEEGDEPKAIYIIISGMVKLE	1.0	7.0	unscreened	-	4253_3:111899442-111899442 C>G_GNDIFEEGDEPKAIYIIISGMVKLE
18:31318915-31318915 A>G	0.0	4253	MELANOMA	-	-	-	-	ASXL3	NM_030632,p.E516G|ENST00000269197,p.E516G|uc010dmg.1,p.E516G|uc002kxq.2,p.E223G	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon11	c.A1547G	p.E516G	MMNDVLETLPHIEVKIEGKSESPQE	MMNDVLETLPHIGVKIEGKSESPQE	1.0	5.0	unscreened	-	4253_18:31318915-31318915 A>G_MMNDVLETLPHIGVKIEGKSESPQE
8:105478908-105478908 C>T	0.0	4253	MELANOMA	-	-	-	-	DPYS	ENST00000521573,p.D81N	retained_intron, protein_coding, processed_transcript	ENST00000521573	nonsynonymous SNV	exon1	c.G241A	p.D81N	HMQFPFMGSRSIDDFHQGTKVKEEM	HMQFPFMGSRSINDFHQGTKVKEEM	5.0	6.0	unscreened	-	4253_8:105478908-105478908 C>T_HMQFPFMGSRSINDFHQGTKVKEEM
1:214819292-214819292 C>T	1.0	4253	MELANOMA	-	-	-	-	CENPF	ENST00000366955,p.R2127C|uc001hkm.3,p.R2127C|NM_016343,p.R2127C	protein_coding, processed_transcript	uc001hkm.3	nonsynonymous SNV	exon13	c.C6379T	p.R2127C	HQLRRGIEKLRVRIEADEKKQLHIA	HQLRRGIEKLRVCIEADEKKQLHIA	8.0	3.0	unscreened	-	4253_1:214819292-214819292 C>T_HQLRRGIEKLRVCIEADEKKQLHIA
4:102984245-102984245 A>T	0.0	4253	MELANOMA	-	-	-	-	BANK1	ENST00000504592,p.Q706L|NM_001127507,p.Q588L|ENST00000428908,p.Q588L|uc003hvx.4,p.Q706L|uc010ill.3,p.Q588L|uc003hvz.4,p.Q691L|NM_017935,p.Q721L|uc003hvy.4,p.Q721L|NM_001083907,p.Q691L|ENST00000508653,p.Q588L|ENST00000322953,p.Q721L|ENST00000444316,p.Q691L	retained_intron, protein_coding, processed_transcript	uc010ill.3	nonsynonymous SNV	exon12	c.A1763T	p.Q588L	SGLEMIQQEKLRQLRDCIIGKRPEE	SGLEMIQQEKLRLLRDCIIGKRPEE	4.0	7.0	unscreened	-	4253_4:102984245-102984245 A>T_SGLEMIQQEKLRLLRDCIIGKRPEE
12:48723778-48723778 G>A	0.0	4253	MELANOMA	-	-	-	-	H1FNT	NM_181788,p.R235Q|uc001rrm.3,p.R235Q|ENST00000335017,p.R235Q	protein_coding	uc001rrm.3	nonsynonymous SNV	exon1	c.G704A	p.R235Q	EDTTPRSGKDKRRSSKPREEKQEPK	EDTTPRSGKDKRQSSKPREEKQEPK	1.0	9.0	unscreened	-	4253_12:48723778-48723778 G>A_EDTTPRSGKDKRQSSKPREEKQEPK
17:10359003-10359003 C>T	0.0	4253	MELANOMA	-	-	-	-	MYH4	ENST00000255381,p.G701D|NM_017533,p.G701D|uc002gmn.3,p.G701D	protein_coding	uc002gmn.3	nonsynonymous SNV	exon19	c.G2102A	p.G701D	EHELVLHQLRCNGVLEGIRICRKGF	EHELVLHQLRCNDVLEGIRICRKGF	1.0	6.0	unscreened	-	4253_17:10359003-10359003 C>T_EHELVLHQLRCNDVLEGIRICRKGF
1:43021842-43021842 A>T	0.0	4253	MELANOMA	-	-	-	-	CCDC30	ENST00000509712,p.E101D|uc009vwk.1,p.E147D|NM_001080850,p.E147D|ENST00000428554,p.E147D|ENST00000342022,p.E147D|ENST00000340612,p.E147D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vwk.1	nonsynonymous SNV	exon5	c.A441T	p.E147D	KEETEELCPKLGERKQKEIPEESVK	KEETEELCPKLGDRKQKEIPEESVK	8.0	5.0	unscreened	-	4253_1:43021842-43021842 A>T_KEETEELCPKLGDRKQKEIPEESVK
1:175375526-175375526 C>T	0.0	4253	MELANOMA	-	-	ID=COSM233624;OCCURENCE=1(skin)	-	TNR	ENST00000367674,p.E109K|uc001gkp.1,p.E109K|NM_003285,p.E109K|ENST00000263525,p.E109K|uc009wwu.1,p.E109K|uc010pmz.1,p.E109K	protein_coding	uc010pmz.1	nonsynonymous SNV	exon3	c.G325A	p.E109K	TLAEYMGQTSDHESQVTFTHRINFP	TLAEYMGQTSDHKSQVTFTHRINFP	1.0	3.0	unscreened	-	4253_1:175375526-175375526 C>T_TLAEYMGQTSDHKSQVTFTHRINFP
18:50592420-50592420 G>A	0.0	4253	MELANOMA	-	-	-	2	DCC	ENST00000581580,p.G37E|uc010dpf.2,p.G37E|ENST00000442544,p.G382E|NM_005215,p.G382E|ENST00000412726,p.G230E|uc002lfe.2,p.G382E|uc010xdr.1,p.G230E|ENST00000578949,p.G37E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdr.1	nonsynonymous SNV	exon7	c.G689A	p.G230E	VVIPSDYFQIVGGSNLRILGVVKSD	VVIPSDYFQIVGESNLRILGVVKSD	1.0	7.0	unscreened	-	4253_18:50592420-50592420 G>A_VVIPSDYFQIVGESNLRILGVVKSD
12:89916933-89916933 T>C	0.0	4253	MELANOMA	-	-	-	-	GALNT4,POC1B-GALNT4	NM_003774,p.N465S|ENST00000413530,p.N293S|NM_001199782,p.N293S|ENST00000529983,p.N465S|uc001tbe.3,p.N462S|uc001tbd.3,p.N465S|NM_001199781,p.N462S|ENST00000548729,p.N462S|uc010suo.2,p.N293S	protein_coding	uc010suo.2	nonsynonymous SNV	exon3	c.A878G	p.N293S	ISSECLDYNSPDNNPTGANLSLFGC	ISSECLDYNSPDSNPTGANLSLFGC	4.0	6.0	unscreened	-	4253_12:89916933-89916933 T>C_ISSECLDYNSPDSNPTGANLSLFGC
8:125081687-125081687 G>A	0.0	4253	MELANOMA	-	-	-	-	FER1L6	ENST00000522917,p.D1269N|ENST00000399018,p.D1269N|uc003yqw.3,p.D1269N|NM_001039112,p.D1269N	protein_coding	uc003yqw.3	nonsynonymous SNV	exon29	c.G3805A	p.D1269N	KKDKMLKKKPKDDGIPNLAILQIYD	KKDKMLKKKPKDNGIPNLAILQIYD	1.0	3.0	unscreened	-	4253_8:125081687-125081687 G>A_KKDKMLKKKPKDNGIPNLAILQIYD
6:40400075-40400075 C>T	0.0	4253	MELANOMA	-	-	ID=COSM3394179;OCCURENCE=1(pancreas)	-	LRFN2	NM_020737,p.D260N|uc003oph.1,p.D260N|ENST00000338305,p.D260N	protein_coding	uc003oph.1	nonsynonymous SNV	exon2	c.G778A	p.D260N	CELLWLRRLERDDDLETCGSPGGLK	CELLWLRRLERDNDLETCGSPGGLK	2.0	3.0	unscreened	-	4253_6:40400075-40400075 C>T_CELLWLRRLERDNDLETCGSPGGLK
21:32410635-32410635 C>G	0.0	4253	MELANOMA	-	-	-	-	KRTAP19-8	NM_001099219,p.G43A|uc010glt.3,p.G43A|ENST00000382822,p.G43A	protein_coding	uc010glt.3	nonsynonymous SNV	exon1	c.G128C	p.G43A	SFRRLGYGCGYGGYGFSCCRPLYYG	SFRRLGYGCGYGAYGFSCCRPLYYG	1.0	3.0	unscreened	-	4253_21:32410635-32410635 C>G_SFRRLGYGCGYGAYGFSCCRPLYYG
1:200870260-200870260 C>T	0.0	4253	MELANOMA	-	-	-	-	C1orf106	uc001gvo.4,p.P264S|ENST00000367342,p.P250S|NM_001142569,p.P165S|uc010ppm.2,p.P165S|ENST00000413687,p.P165S|NM_018265,p.P264S	protein_coding, processed_transcript	uc010ppm.2	nonsynonymous SNV	exon5	c.C493T	p.P165S	CLVERRRNSEPPPAAALPLGRELSA	CLVERRRNSEPPSAAALPLGRELSA	4.0	7.0	unscreened	-	4253_1:200870260-200870260 C>T_CLVERRRNSEPPSAAALPLGRELSA
8:105361802-105361802 A>G	0.0	4253	MELANOMA	-	-	-	-	DCSTAMP	ENST00000297581,p.H341R|NM_030788,p.H341R|uc003ylx.2,p.H341R	protein_coding, processed_transcript	uc003ylx.2	nonsynonymous SNV	exon2	c.A1022G	p.H341R	QSLPGFEVHLKLHGEKQGTQDIIHD	QSLPGFEVHLKLRGEKQGTQDIIHD	6.0	8.0	unscreened	-	4253_8:105361802-105361802 A>G_QSLPGFEVHLKLRGEKQGTQDIIHD
1:169483687-169483687 C>T	1.0	4253	MELANOMA	-	-	-	-	F5	ENST00000367796,p.G2185E|ENST00000367797,p.G2180E|NM_000130,p.G2180E|uc001ggg.1,p.G2180E	protein_coding, processed_transcript	uc001ggg.1	nonsynonymous SNV	exon25	c.G6539A	p.G2180E	RLKSSMVDKIFEGNTNTKGHVKNFF	RLKSSMVDKIFEENTNTKGHVKNFF	6.0	7.0	unscreened	-	4253_1:169483687-169483687 C>T_RLKSSMVDKIFEENTNTKGHVKNFF
4:146617754-146617754 G>A	0.0	4253	MELANOMA	-	-	-	-	C4orf51	NM_001080531,p.A93T|ENST00000438731,p.A93T|uc003ikk.3,p.A93T	protein_coding, processed_transcript	uc003ikk.3	nonsynonymous SNV	exon2	c.G277A	p.A93T	LTNSSACHLLCWAGTQETTDIKGLF	LTNSSACHLLCWTGTQETTDIKGLF	1.0	8.0	unscreened	-	4253_4:146617754-146617754 G>A_LTNSSACHLLCWTGTQETTDIKGLF
19:50881067-50881067 G>A	1.0	4253	MELANOMA	-	-	-	-	NR1H2	ENST00000597130,p.G41S|uc010enw.4,p.G41S|NM_001256647,p.G41S|uc002psa.5,p.G41S|ENST00000593532,p.G41S|ENST00000253727,p.G41S|ENST00000411902,p.G41S|ENST00000599105,p.G41S|ENST00000593926,p.G41S|NM_007121,p.G41S|ENST00000597790,p.G41S|ENST00000598168,p.G41S|ENST00000597157,p.G41S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010enw.4	nonsynonymous SNV	exon4	c.G121A	p.G41S	TVKEEGPEPWPGGPDPDVPGTDEAS	TVKEEGPEPWPGSPDPDVPGTDEAS	9.0	8.0	unscreened	-	4253_19:50881067-50881067 G>A_TVKEEGPEPWPGSPDPDVPGTDEAS
5:78329143-78329143 C>T	0.0	4253	MELANOMA	-	-	-	-	DMGDH	ENST00000255189,p.D428N|ENST00000523732,p.D267N|ENST00000380311,p.D227N|uc011cte.1,p.D278N|NM_013391,p.D428N|uc003kfs.3,p.D428N|uc011ctg.1,p.D48N|ENST00000540686,p.D48N|uc011ctf.1,p.D227N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ctg.1	nonsynonymous SNV	exon3	c.G142A	p.D48N	LHGEPPFDLIELDPNRYGKWTTTQY	LHGEPPFDLIELNPNRYGKWTTTQY	5.0	6.0	unscreened	-	4253_5:78329143-78329143 C>T_LHGEPPFDLIELNPNRYGKWTTTQY
8:2796184-2796184 C>T	0.0	4253	MELANOMA	-	-	-	-	CSMD1	ENST00000537824,p.D3540N|uc022aqr.1,p.D3540N|NM_033225,p.D3540N|ENST00000542608,p.D3363N|uc011kwj.2,p.D2855N|uc010lrg.3,p.D1432N|ENST00000520002,p.D3541N|ENST00000400186,p.D3364N|ENST00000602557,p.D3541N|ENST00000602723,p.D3364N	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon70	c.G10618A	p.D3540N	SNGQASFENPMYDTNLKPTEAKAVR	SNGQASFENPMYNTNLKPTEAKAVR	2.0	5.0	unscreened	-	4253_8:2796184-2796184 C>T_SNGQASFENPMYNTNLKPTEAKAVR
3:120998780-120998780 G>A	0.0	4253	MELANOMA	-	-	-	-	STXBP5L	uc003eec.4,p.R696Q|ENST00000471262,p.R696Q|ENST00000492541,p.R696Q|ENST00000497029,p.R696Q|ENST00000273666,p.R696Q|NM_014980,p.R696Q	protein_coding, nonsense_mediated_decay	uc003eec.4	nonsynonymous SNV	exon19	c.G2087A	p.R696Q	SSDLYQRQPRSPRKNKQFIADNFCM	SSDLYQRQPRSPQKNKQFIADNFCM	1.0	2.0	unscreened	-	4253_3:120998780-120998780 G>A_SSDLYQRQPRSPQKNKQFIADNFCM
7:100647720-100647720 C>T	0.0	4253	MELANOMA	-	-	-	-	MUC12	ENST00000379442,p.R4769C|ENST00000536621,p.R4626C|uc003uxo.3,p.R4626C|NM_001164462,p.R4626C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C13876T	p.R4626C	TMHFPESSTASGRSEESRTSHSSTT	TMHFPESSTASGCSEESRTSHSSTT	5.0	8.0	unscreened	-	4253_7:100647720-100647720 C>T_TMHFPESSTASGCSEESRTSHSSTT
12:8197399-8197399 C>T	0.0	4253	MELANOMA	-	-	-	-	FOXJ2	uc001qtt.1,p.S221L|ENST00000162391,p.S221L|NM_018416,p.S221L|ENST00000428177,p.S221L|uc001qtu.3,p.S221L	protein_coding, processed_transcript	uc001qtu.3	nonsynonymous SNV	exon6	c.C662T	p.S221L	GSVDGGAVAAGASGRESAEGPPPLY	GSVDGGAVAAGALGRESAEGPPPLY	7.0	3.0	unscreened	-	4253_12:8197399-8197399 C>T_GSVDGGAVAAGALGRESAEGPPPLY
1:181701998-181701998 G>A	0.0	4253	MELANOMA	-	-	ID=COSM424747,COSM1146082;OCCURENCE=1(breast),1(lung)	-	CACNA1E	ENST00000367570,p.V926I|ENST00000367573,p.V926I|uc001gow.3,p.V926I|NM_000721,p.V926I|NM_001205293,p.V926I|uc009wxs.3,p.V907I|ENST00000358338,p.V858I|uc001gox.1,p.V152I|NM_001205294,p.V907I|ENST00000526775,p.V907I|ENST00000360108,p.V907I|uc009wxt.3,p.V926I|ENST00000367567,p.V533I|ENST00000357570,p.V877I	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon20	c.G2776A	p.V926I	HRQSQRRSRHRRVRTEGKESSSASR	HRQSQRRSRHRRIRTEGKESSSASR	1.0	2.0	unscreened	-	4253_1:181701998-181701998 G>A_HRQSQRRSRHRRIRTEGKESSSASR
22:36920025-36920025 C>A	1.0	4253	MELANOMA	-	-	-	-	EIF3D	ENST00000541106,p.R54S|uc011amt.2,p.R54S	retained_intron, protein_coding, processed_transcript	uc011amt.2	nonsynonymous SNV	exon4	c.G162T	p.R54S	VADWTGATYQDKRNLRRDKDRRNML	VADWTGATYQDKSNLRRDKDRRNML	10.0	6.0	unscreened	-	4253_22:36920025-36920025 C>A_VADWTGATYQDKSNLRRDKDRRNML
21:39762917-39762917 C>T	0.0	4253	MELANOMA	-	-	-	1	ERG	uc021wjd.1,p.G314S|NM_001243432,p.G314S	retained_intron, protein_coding, processed_transcript	uc021wjd.1	nonsynonymous SNV	exon11	c.G940A	p.G314S	ILGPTSSRLANPGWTQ	ILGPTSSRLANPSWTQ	5.0	2.0	unscreened	-	4253_21:39762917-39762917 C>T_ILGPTSSRLANPSWTQ
7:143633023-143633023 G>A	0.0	4253	MELANOMA	0.0	-	-	-	OR2F2	ENST00000408955,p.G233E|NM_001004685,p.G233E|uc011ktv.2,p.G233E	protein_coding	uc011ktv.2	nonsynonymous SNV	exon1	c.G698A	p.G233E	IISTILKIQSREGRKKAFHTCASHL	IISTILKIQSREERKKAFHTCASHL	1.0	4.0	unscreened	-	4253_7:143633023-143633023 G>A_IISTILKIQSREERKKAFHTCASHL
3:120998780-120998780 G>A	0.0	4253	MELANOMA	-	-	-	-	STXBP5L	ENST00000471454,p.R696Q|uc011bji.2,p.R696Q|ENST00000472879,p.R696Q	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon19	c.G2087A	p.R696Q	SSDLYQRQPRSPRKNKQFIAGLTEL	SSDLYQRQPRSPQKNKQFIAGLTEL	1.0	2.0	unscreened	-	4253_3:120998780-120998780 G>A_SSDLYQRQPRSPQKNKQFIAGLTEL
3:168833430-168833430 G>A	0.0	4253	MELANOMA	-	-	-	1	MECOM	ENST00000464456,p.L556F|uc003ffk.2,p.L556F|ENST00000468789,p.L556F|uc003ffj.3,p.L621F|NM_004991,p.L744F|NM_001105077,p.L621F|uc010hwn.2,p.L744F|uc003ffl.2,p.L716F|uc011bpi.1,p.L557F|NM_001105078,p.L556F|uc010hwk.1,p.L579F|ENST00000492586,p.L207F|ENST00000433243,p.L557F|uc011bpk.1,p.L556F|uc003ffn.3,p.L556F|NM_005241,p.L556F|ENST00000392736,p.L556F|NM_001163999,p.L557F|ENST00000264674,p.L621F|uc011bpj.1,p.L744F|NM_001164000,p.L556F|ENST00000460814,p.L556F|uc003ffi.3,p.L556F|ENST00000472280,p.L557F|ENST00000494292,p.L744F|NM_001205194,p.L556F	retained_intron, protein_coding, processed_transcript	uc011bpk.1	nonsynonymous SNV	exon7	c.C1666T	p.L556F	KLQKGSSESPFDLTTKRKDEKPLTP	KLQKGSSESPFDFTTKRKDEKPLTP	5.0	8.0	unscreened	-	4253_3:168833430-168833430 G>A_KLQKGSSESPFDFTTKRKDEKPLTP
2:141093194-141093194 G>A	0.0	4253	MELANOMA	-	-	ID=COSM138322;OCCURENCE=1(skin)	1	LRP1B	NM_018557,p.P4036S|uc002tvj.1,p.P4036S|ENST00000389484,p.P4036S	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon78	c.C12106T	p.P4036S	NMAGEPYAIAVNPKRGMMYWTVVGD	NMAGEPYAIAVNSKRGMMYWTVVGD	3.0	3.0	unscreened	-	4253_2:141093194-141093194 G>A_NMAGEPYAIAVNSKRGMMYWTVVGD
7:82390765-82390765 C>T	0.0	4253	MELANOMA	-	-	-	-	PCLO	NM_033026,p.E5018K|ENST00000333891,p.E5018K|uc003uhx.2,p.E5018K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon23	c.G15052A	p.E5018K	QVMGEIKIALKKEMKTDGEQLIVEI	QVMGEIKIALKKKMKTDGEQLIVEI	7.0	5.0	unscreened	-	4253_7:82390765-82390765 C>T_QVMGEIKIALKKKMKTDGEQLIVEI
6:10802169-10802169 C>T	0.0	4253	MELANOMA	-	-	-	-	MAK	ENST00000536370,p.E263K|NM_005906,p.E263K|NM_001242957,p.E263K|uc021ylk.1,p.E263K|ENST00000538030,p.E263K|ENST00000474039,p.E263K|ENST00000313243,p.E263K|NM_001242385,p.E263K|uc021yll.1,p.E263K|ENST00000354489,p.E263K|uc003mzm.3,p.E263K	protein_coding, processed_transcript	uc021yll.1	nonsynonymous SNV	exon8	c.G787A	p.E263K	PNASNEAIQLMTEMLNWDPKKRPTA	PNASNEAIQLMTKMLNWDPKKRPTA	4.0	5.0	unscreened	-	4253_6:10802169-10802169 C>T_PNASNEAIQLMTKMLNWDPKKRPTA
16:20554243-20554243 C>T	0.0	4253	MELANOMA	-	-	-	-	ACSM2B	NM_001105069,p.R501Q|ENST00000565322,p.R422Q|uc002dhj.4,p.R501Q|ENST00000565232,p.R501Q|NM_182617,p.R501Q|uc002dhk.4,p.R501Q|ENST00000329697,p.R501Q|ENST00000567001,p.R501Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dhk.4	nonsynonymous SNV	exon12	c.G1502A	p.R501Q	VETAVISSPDPVRGEVVKAFVILAS	VETAVISSPDPVQGEVVKAFVILAS	3.0	4.0	unscreened	-	4253_16:20554243-20554243 C>T_VETAVISSPDPVQGEVVKAFVILAS
7:140154898-140154898 G>A	1.0	4253	MELANOMA	-	-	-	-	MKRN1	ENST00000463142,p.T64I	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000463142	nonsynonymous SNV	exon2	c.C191T	p.T64I	SHRDRKWEHQADTGPNEGTTSGNSL	SHRDRKWEHQADIGPNEGTTSGNSL	9.0	5.0	unscreened	-	4253_7:140154898-140154898 G>A_SHRDRKWEHQADIGPNEGTTSGNSL
11:31816213-31816213 G>A	0.0	4253	MELANOMA	-	-	-	-	PAX6	ENST00000379107,p.S230F|uc021qfl.1,p.S230F|ENST00000379109,p.S216F|uc001mth.5,p.S216F|uc001mtg.5,p.S230F|NM_001604,p.S230F|ENST00000379111,p.S216F|uc009yjr.3,p.S216F|uc001mtf.5,p.S216F|NM_001127612,p.S216F|NM_001258464,p.S216F|NM_001258463,p.S230F|ENST00000241001,p.S216F|uc001mte.5,p.S216F|ENST00000379115,p.S230F|uc021qfm.1,p.S230F|uc031pzk.1,p.S80F|NM_001258462,p.S230F|uc001mtd.4,p.S216F|NM_000280,p.S216F|ENST00000419022,p.S230F|uc021qfn.1,p.S216F|ENST00000379123,p.S216F|ENST00000379132,p.S216F|ENST00000379129,p.S230F|uc031pzl.1,p.S80F|NM_001258465,p.S216F	retained_intron, protein_coding, processed_transcript	uc031pzl.1	nonsynonymous SNV	exon5	c.C239T	p.S80F	LQLKRKLQRNRTSFTQEQIEALEKE	LQLKRKLQRNRTFFTQEQIEALEKE	4.0	8.0	unscreened	-	4253_11:31816213-31816213 G>A_LQLKRKLQRNRTFFTQEQIEALEKE
7:100856187-100856187 C>T	1.0	4253	MELANOMA	-	-	-	-	PLOD3	NM_001084,p.G272D|uc003uyd.3,p.G272D|ENST00000223127,p.G272D	retained_intron, protein_coding, nonsense_mediated_decay	uc003uyd.3	nonsynonymous SNV	exon8	c.G815A	p.G272D	LQLNYLGNYVPNGWTPEGGCGFCNQ	LQLNYLGNYVPNDWTPEGGCGFCNQ	10.0	4.0	unscreened	-	4253_7:100856187-100856187 C>T_LQLNYLGNYVPNDWTPEGGCGFCNQ
3:130284282-130284282 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1418943,COSM1418944;OCCURENCE=1(large_intestine)	-	COL6A6	ENST00000453409,p.G369D|NM_001102608,p.G369D|uc010htl.3,p.G369D|ENST00000358511,p.G369D	protein_coding, nonsense_mediated_decay	uc010htl.3	nonsynonymous SNV	exon3	c.G1106A	p.G369D	REGVTIFTLGIEGASDTQLEKIASH	REGVTIFTLGIEDASDTQLEKIASH	3.0	8.0	unscreened	-	4253_3:130284282-130284282 G>A_REGVTIFTLGIEDASDTQLEKIASH
1:236645585-236645585 C>T	1.0	4253	MELANOMA	-	-	-	-	EDARADD	NM_145861,p.S95F|ENST00000334232,p.S95F|uc001hxu.1,p.S95F|uc001hxv.1,p.S85F|NM_080738,p.S85F|ENST00000359362,p.S85F	protein_coding	uc001hxv.1	nonsynonymous SNV	exon6	c.C254T	p.S85F	TGDPLPEISKDNSCKENCTCSSCLL	TGDPLPEISKDNFCKENCTCSSCLL	6.0	2.0	unscreened	-	4253_1:236645585-236645585 C>T_TGDPLPEISKDNFCKENCTCSSCLL
3:113955906-113955906 C>T	0.0	4253	MELANOMA	-	-	ID=COSM580856;OCCURENCE=1(lung)	-	ZNF80	uc010hqo.3,p.D6N|ENST00000308095,p.D6N|NM_007136,p.D6N|ENST00000482457,p.D6N	protein_coding, nonsense_mediated_decay	uc010hqo.3	nonsynonymous SNV	exon1	c.G16A	p.D6N	MSPKRDGLGTGDGLHSQV	MSPKRNGLGTGDGLHSQV	1.0	2.0	unscreened	-	4253_3:113955906-113955906 C>T_MSPKRNGLGTGDGLHSQV
7:57188256-57188256 C>T	0.0	4253	MELANOMA	-	-	-	2	ZNF479	uc010kzo.3,p.R289K|NM_033273,p.R289K|ENST00000331162,p.R289K	protein_coding	uc010kzo.3	nonsynonymous SNV	exon5	c.G866A	p.R289K	AFRRSSALTNHKRIHTGERPYKCEE	AFRRSSALTNHKKIHTGERPYKCEE	1.0	2.0	unscreened	-	4253_7:57188256-57188256 C>T_AFRRSSALTNHKKIHTGERPYKCEE
17:18881493-18881493 C>T	0.0	4253	MELANOMA	-	-	-	-	FAM83G	ENST00000585154,p.G496R|ENST00000345041,p.G496R|NM_001039999,p.G496R|ENST00000388995,p.G496R|uc002guw.3,p.G496R	retained_intron, protein_coding	uc002guw.3	nonsynonymous SNV	exon5	c.G1486A	p.G496R	QDGVPAENGLPQGDPEPLPPVPKPR	QDGVPAENGLPQRDPEPLPPVPKPR	5.0	4.0	unscreened	-	4253_17:18881493-18881493 C>T_QDGVPAENGLPQRDPEPLPPVPKPR
2:167760210-167760210 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1008924,COSM1008923;OCCURENCE=1(endometrium),1(large_intestine)	-	XIRP2	ENST00000409195,p.S73L|uc010fpo.3,p.S73L|uc010fpn.3,p.S73L|ENST00000409728,p.S73L|ENST00000295237,p.S73L|ENST00000409756,p.S73L|ENST00000409043,p.S73L|uc002udx.3,p.S73L|ENST00000420519,p.S73L|NM_001079810,p.S73L|NM_152381,p.S73L|NM_001199143,p.S73L	protein_coding	uc010fpo.3	nonsynonymous SNV	exon2	c.C218T	p.S73L	SLPYSTGEEMWSSKPEEKDSVDKSN	SLPYSTGEEMWSLKPEEKDSVDKSN	2.0	3.0	unscreened	-	4253_2:167760210-167760210 C>T_SLPYSTGEEMWSLKPEEKDSVDKSN
6:46797219-46797219 G>A	0.0	4253	MELANOMA	-	-	-	-	MEP1A	uc011dwg.1,p.G74E|uc011dwi.1,p.G252E|NM_005588,p.G352E|ENST00000230588,p.G352E|uc010jzh.1,p.G352E|uc011dwh.1,p.G380E	protein_coding	uc011dwi.1	nonsynonymous SNV	exon8	c.G755A	p.G252E	KQQCLQFFYKMTGSPSDRLVVWVRR	KQQCLQFFYKMTESPSDRLVVWVRR	1.0	3.0	unscreened	-	4253_6:46797219-46797219 G>A_KQQCLQFFYKMTESPSDRLVVWVRR
2:227967522-227967522 C>T	0.0	4253	MELANOMA	-	-	-	-	COL4A4	ENST00000329662,p.G305R|NM_000092,p.G305R|uc021vxs.1,p.G305R|uc021vxr.1,p.G305R|ENST00000396625,p.G305R	protein_coding	uc021vxs.1	nonsynonymous SNV	exon15	c.G913A	p.G305R	SGIGAKGEKGIPGFPGPRGDPGSYG	SGIGAKGEKGIPRFPGPRGDPGSYG	1.0	2.0	unscreened	-	4253_2:227967522-227967522 C>T_SGIGAKGEKGIPRFPGPRGDPGSYG
3:128181580-128181580 C>T	0.0	4253	MELANOMA	-	-	-	-	DNAJB8	ENST00000469083,p.G170E|uc021xdk.1,p.G170E|uc003ekk.2,p.G170E|NM_153330,p.G170E|ENST00000319153,p.G170E	protein_coding	uc021xdk.1	nonsynonymous SNV	exon1	c.G509A	p.G170E	GGSHTTFSSTSFGGSSSGSSGFKSV	GGSHTTFSSTSFEGSSSGSSGFKSV	1.0	2.0	unscreened	-	4253_3:128181580-128181580 C>T_GGSHTTFSSTSFEGSSSGSSGFKSV
8:110417245-110417245 G>A	0.0	4253	MELANOMA	-	-	-	-	PKHD1L1	ENST00000378402,p.E519K|uc003yne.3,p.E519K|NM_177531,p.E519K	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon16	c.G1555A	p.E519K	LQEVQVITLENWETTNAINEVQKIK	LQEVQVITLENWKTTNAINEVQKIK	1.0	4.0	unscreened	-	4253_8:110417245-110417245 G>A_LQEVQVITLENWKTTNAINEVQKIK
7:140301537-140301537 C>T	0.0	4253	MELANOMA	-	-	-	-	DENND2A	uc010lnj.3,p.D221N|ENST00000461883,p.D221N|ENST00000496613,p.D221N|ENST00000537639,p.D221N|ENST00000492720,p.D221N|uc003vvx.3,p.D221N|uc010lnk.3,p.D221N|uc003vvw.3,p.D221N|NM_015689,p.D221N|ENST00000275884,p.D221N	protein_coding, nonsense_mediated_decay	uc010lnk.3	nonsynonymous SNV	exon3	c.G661A	p.D221N	SGSEVSQRVHPSDLEGREPTPELVE	SGSEVSQRVHPSNLEGREPTPELVE	6.0	4.0	unscreened	-	4253_7:140301537-140301537 C>T_SGSEVSQRVHPSNLEGREPTPELVE
3:109047910-109047910 C>T	0.0	4253	MELANOMA	-	-	-	-	DPPA4	uc011bho.2,p.E137K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bho.2	nonsynonymous SNV	exon5	c.G409A	p.E137K	AYPNQKVVCGPWEKSPCRHRWLGSP	AYPNQKVVCGPWKKSPCRHRWLGSP	2.0	2.0	unscreened	-	4253_3:109047910-109047910 C>T_AYPNQKVVCGPWKKSPCRHRWLGSP
19:52941015-52941015 G>A	1.0	4253	MELANOMA	-	-	-	-	ZNF534	ENST00000433050,p.G101E|ENST00000332323,p.G114E|NM_001143939,p.G114E|NM_001143938,p.G101E|uc002pzk.3,p.G114E|uc002pzl.3,p.G101E	protein_coding	uc002pzl.3	nonsynonymous SNV	exon4	c.G302A	p.G101E	NTEKSSKLGSSAGNKSLKNQHGLTL	NTEKSSKLGSSAENKSLKNQHGLTL	6.0	8.0	unscreened	-	4253_19:52941015-52941015 G>A_NTEKSSKLGSSAENKSLKNQHGLTL
1:45479302-45479302 G>A	1.0	4253	MELANOMA	-	-	-	-	UROD	uc031pmi.1,p.R95K|uc031pmj.1,p.R69K	protein_coding, processed_transcript	uc031pmj.1	nonsynonymous SNV	exon4	c.G206A	p.R69K	GTGHGGDHGTWQRTQLPRAIKRRAG	GTGHGGDHGTWQKTQLPRAIKRRAG	10.0	5.0	unscreened	-	4253_1:45479302-45479302 G>A_GTGHGGDHGTWQKTQLPRAIKRRAG
1:17410325-17410325 C>T	0.0	4253	MELANOMA	-	-	-	-	PADI2	uc010ocm.2,p.D200N|ENST00000444885,p.D200N	protein_coding, processed_transcript	uc010ocm.2	nonsynonymous SNV	exon6	c.G598A	p.D200N	MSACWSTWPSMKDNYLFLKEVKNLV	MSACWSTWPSMKNNYLFLKEVKNLV	4.0	4.0	unscreened	-	4253_1:17410325-17410325 C>T_MSACWSTWPSMKNNYLFLKEVKNLV
5:42762639-42762639 C>T	0.0	4253	MELANOMA	-	-	-	-	CCDC152	uc011cpr.1,p.S61F|ENST00000361970,p.S61F|ENST00000388827,p.S61F|NM_001134848,p.S61F|uc003jmx.3,p.S61F	protein_coding	uc011cpr.1	nonsynonymous SNV	exon3	c.C182T	p.S61F	NCLLKVMQAKEVSIKEECATLHNII	NCLLKVMQAKEVFIKEECATLHNII	3.0	7.0	unscreened	-	4253_5:42762639-42762639 C>T_NCLLKVMQAKEVFIKEECATLHNII
18:50592482-50592482 G>A	0.0	4253	MELANOMA	-	-	ID=COSM417825;OCCURENCE=1(urinary_tract)	2	DCC	uc002lfe.2,p.E403K|ENST00000578949,p.E58K|ENST00000442544,p.E403K|NM_005215,p.E403K|ENST00000581580,p.E58K|uc010dpf.2,p.E58K|ENST00000412726,p.E251K|uc010xdr.1,p.E251K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdr.1	nonsynonymous SNV	exon7	c.G751A	p.E251K	VKSDEGFYQCVAENEAGNAQTSAQL	VKSDEGFYQCVAKNEAGNAQTSAQL	1.0	2.0	unscreened	-	4253_18:50592482-50592482 G>A_VKSDEGFYQCVAKNEAGNAQTSAQL
8:88298887-88298887 C>T	0.0	4253	MELANOMA	-	-	-	2	CNBD1	NM_173538,p.P344S|ENST00000518476,p.P344S|uc003ydy.2,p.P344S	retained_intron, protein_coding, processed_transcript	uc003ydy.2	nonsynonymous SNV	exon8	c.C1030T	p.P344S	YELIALLKWKKFPPGHVIVESGNII	YELIALLKWKKFSPGHVIVESGNII	1.0	7.0	unscreened	-	4253_8:88298887-88298887 C>T_YELIALLKWKKFSPGHVIVESGNII
2:88125182-88125182 C>T	0.0	4253	MELANOMA	-	-	-	-	RGPD2	ENST00000398146,p.G23R|NM_001078170,p.G23R|uc010fhc.2,p.G23R	protein_coding, processed_transcript	uc010fhc.2	nonsynonymous SNV	exon1	c.G67A	p.G23R	YLASVQGSAPSPGKKLRGFYFAKLY	YLASVQGSAPSPRKKLRGFYFAKLY	4.0	3.0	unscreened	-	4253_2:88125182-88125182 C>T_YLASVQGSAPSPRKKLRGFYFAKLY
2:168101323-168101323 G>A	0.0	4253	MELANOMA	-	-	-	-	XIRP2	ENST00000409273,p.D919N|NM_001199144,p.D919N|ENST00000295237,p.D1141N|ENST00000409195,p.D1141N|uc002udx.3,p.D1141N|uc002udy.3,p.D966N|NM_152381,p.D1141N|uc010fpq.3,p.D919N	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G2755A	p.D919N	WLFETQPLDTIKDDSETAVKLQTVK	WLFETQPLDTIKNDSETAVKLQTVK	2.0	2.0	unscreened	-	4253_2:168101323-168101323 G>A_WLFETQPLDTIKNDSETAVKLQTVK
2:14774792-14774792 G>A	0.0	4253	MELANOMA	-	-	-	-	FAM84A	uc021ved.1,p.G230E|uc002rbz.2,p.G230E|ENST00000295092,p.G230E|NM_145175,p.G230E|ENST00000331243,p.G230E	protein_coding, processed_transcript	uc021ved.1	nonsynonymous SNV	exon1	c.G689A	p.G230E	WCRFGKREFKAGGEVPAGTQPPQQQ	WCRFGKREFKAGEEVPAGTQPPQQQ	4.0	8.0	unscreened	-	4253_2:14774792-14774792 G>A_WCRFGKREFKAGEEVPAGTQPPQQQ
1:20640975-20640975 C>T	0.0	4253	MELANOMA	-	-	-	-	VWA5B1	ENST00000485375,p.P133S	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000485375	nonsynonymous SNV	exon4	c.C397T	p.P133S	ECHHLHQHLLGAPNAAQRGCEGPSA	ECHHLHQHLLGASNAAQRGCEGPSA	1.0	4.0	unscreened	-	4253_1:20640975-20640975 C>T_ECHHLHQHLLGASNAAQRGCEGPSA
4:109765688-109765688 G>A	0.0	4253	MELANOMA	-	-	-	-	COL25A1	ENST00000399126,p.P539L|NM_001256074,p.P512L|uc003hzh.2,p.P512L|ENST00000399132,p.P539L|NM_198721,p.P539L|ENST00000399127,p.P512L|uc021xqp.2,p.P539L|uc003hzg.4,p.P539L|uc003hze.2,p.P539L|uc021xqo.1,p.P539L|NM_032518,p.P539L|uc003hzf.4,p.P512L	retained_intron, protein_coding, nonsense_mediated_decay	uc021xqp.2	nonsynonymous SNV	exon29	c.C1616T	p.P539L	IIGPPGPPGPHGPPGPMGPHGLPGP	IIGPPGPPGPHGLPGPMGPHGLPGP	4.0	7.0	unscreened	-	4253_4:109765688-109765688 G>A_IIGPPGPPGPHGLPGPMGPHGLPGP
4:68784890-68784890 C>T	0.0	4253	MELANOMA	-	-	-	-	TMPRSS11A	uc003hds.1,p.M251I|ENST00000334830,p.M254I|NM_001114387,p.M251I|ENST00000396188,p.M251I|uc003hdr.1,p.M254I|ENST00000508048,p.M250I|NM_182606,p.M254I|ENST00000513536,p.M218I	protein_coding	uc003hds.1	nonsynonymous SNV	exon8	c.G753A	p.M251I	TVSFGTKINPPLMKRNVRRFIIHEK	TVSFGTKINPPLIKRNVRRFIIHEK	1.0	6.0	unscreened	-	4253_4:68784890-68784890 C>T_TVSFGTKINPPLIKRNVRRFIIHEK
1:152748972-152748972 C>T	0.0	4253	MELANOMA	-	-	ID=COSM528573;OCCURENCE=1(lung)	-	LCE1F	NM_178354,p.S42F|uc010pdv.2,p.S42F|ENST00000334371,p.S42F	protein_coding	uc010pdv.2	nonsynonymous SNV	exon1	c.C125T	p.S42F	PPKCPPKCPPVSSCCSVSSGGCCGS	PPKCPPKCPPVSFCCSVSSGGCCGS	1.0	6.0	unscreened	-	4253_1:152748972-152748972 C>T_PPKCPPKCPPVSFCCSVSSGGCCGS
16:49412388-49412388 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1709136;OCCURENCE=1(skin)	-	C16orf78	ENST00000299191,p.G93E|NM_144602,p.G93E|uc002efr.3,p.G93E	protein_coding	uc002efr.3	nonsynonymous SNV	exon3	c.G278A	p.G93E	NRRDTETSQQALGKRFRKDAASYRS	NRRDTETSQQALEKRFRKDAASYRS	1.0	7.0	unscreened	-	4253_16:49412388-49412388 G>A_NRRDTETSQQALEKRFRKDAASYRS
3:121613333-121613333 T>G	0.0	4253	MELANOMA	-	-	-	-	SLC15A2	NM_001145998,p.F4V|uc011bjn.1,p.F4V|ENST00000489711,p.F4V|NM_021082,p.F4V|uc003eep.2,p.F4V|ENST00000295605,p.F4V	protein_coding, processed_transcript	uc011bjn.1	nonsynonymous SNV	exon1	c.T10G	p.F4V	MNPFQKNESKETLFSP	MNPVQKNESKETLFSP	6.0	2.0	unscreened	-	4253_3:121613333-121613333 T>G_MNPVQKNESKETLFSP
2:215852457-215852457 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1016113;OCCURENCE=1(endometrium),1(large_intestine)	-	ABCA12	ENST00000272895,p.R1297Q|NM_015657,p.R979Q|uc002vev.3,p.R979Q|NM_173076,p.R1297Q|uc002vew.3,p.R1297Q|uc010zjn.2,p.R224Q|ENST00000389661,p.R979Q	protein_coding	uc010zjn.2	nonsynonymous SNV	exon29	c.G671A	p.R224Q	WYFPILPSYWKERFGCAEVKPEKSN	WYFPILPSYWKEQFGCAEVKPEKSN	1.0	3.0	unscreened	-	4253_2:215852457-215852457 C>T_WYFPILPSYWKEQFGCAEVKPEKSN
2:163241236-163241236 C>T	0.0	4253	MELANOMA	-	-	-	-	KCNH7	uc002uch.2,p.G975E|NM_033272,p.G975E|ENST00000332142,p.G975E	protein_coding, processed_transcript	uc002uch.2	nonsynonymous SNV	exon13	c.G2924A	p.G975E	SGLDFEETVPTSGRMHIDKRSHSCK	SGLDFEETVPTSERMHIDKRSHSCK	1.0	7.0	unscreened	-	4253_2:163241236-163241236 C>T_SGLDFEETVPTSERMHIDKRSHSCK
4:41984866-41984866 C>T	0.0	4253	MELANOMA	-	-	-	-	DCAF4L1	ENST00000333141,p.P353S|NM_001029955,p.P353S|uc003gwk.2,p.P353S	protein_coding	uc003gwk.2	nonsynonymous SNV	exon1	c.C1057T	p.P353S	WSLHDAHLLRTIPSPYSASEDDIPS	WSLHDAHLLRTISSPYSASEDDIPS	4.0	5.0	unscreened	-	4253_4:41984866-41984866 C>T_WSLHDAHLLRTISSPYSASEDDIPS
12:55420497-55420497 G>A	0.0	4253	MELANOMA	-	-	-	-	NEUROD4	uc001sgp.4,p.A92T|uc021qyr.1,p.A92T|NM_021191,p.A92T|ENST00000242994,p.A92T	protein_coding	uc021qyr.1	nonsynonymous SNV	exon1	c.G274A	p.A92T	ARLERFRARRVKANARERTRMHGLN	ARLERFRARRVKTNARERTRMHGLN	1.0	8.0	unscreened	-	4253_12:55420497-55420497 G>A_ARLERFRARRVKTNARERTRMHGLN
19:56244557-56244557 C>T	0.0	4253	MELANOMA	-	-	ID=COSM26528;OCCURENCE=1(endometrium),1(skin)	-	NLRP9	ENST00000332836,p.E214K|NM_176820,p.E214K|uc002qly.3,p.E214K|ENST00000590200,p.E214K	protein_coding	uc002qly.3	nonsynonymous SNV	exon2	c.G640A	p.E214K	LSRDWPESSEKIEDIFSQPERILFI	LSRDWPESSEKIKDIFSQPERILFI	1.0	8.0	unscreened	-	4253_19:56244557-56244557 C>T_LSRDWPESSEKIKDIFSQPERILFI
18:31323162-31323162 G>A	0.0	4253	MELANOMA	0.0005	-	-	-	ASXL3	uc002kxq.2,p.R824Q|uc010dmg.1,p.R1117Q|ENST00000269197,p.R1117Q|NM_030632,p.R1117Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon12	c.G3350A	p.R1117Q	QTKAKLFAKHQARAHLFQTSKETRL	QTKAKLFAKHQAQAHLFQTSKETRL	1.0	5.0	unscreened	-	4253_18:31323162-31323162 G>A_QTKAKLFAKHQAQAHLFQTSKETRL
17:21731077-21731077 G>A	0.0	4253	MELANOMA	-	-	-	-	C17orf51,FAM27L	ENST00000584755,p.E127K|uc002gyy.3,p.E127K|ENST00000578713,p.E127K	protein_coding	uc002gyy.3	nonsynonymous SNV	exon2	c.G379A	p.E127K	DQQRLIFAGKQLEDGRSLSDYNIQK	DQQRLIFAGKQLKDGRSLSDYNIQK	8.0	5.0	unscreened	-	4253_17:21731077-21731077 G>A_DQQRLIFAGKQLKDGRSLSDYNIQK
16:67942662-67942662 G>A	1.0	4253	MELANOMA	-	-	-	-	PSKH1	uc010cet.2,p.G4R|uc002euv.3,p.G4R|ENST00000291041,p.G4R|NM_006742,p.G4R	protein_coding, processed_transcript	uc010cet.2	nonsynonymous SNV	exon2	c.G10A	p.G4R	MGCGTSKVLPEPPKDV	MGCRTSKVLPEPPKDV	9.0	6.0	unscreened	-	4253_16:67942662-67942662 G>A_MGCRTSKVLPEPPKDV
19:49001841-49001841 C>T	0.0	4253	MELANOMA	-	-	-	-	LMTK3	NM_001080434,p.D858N|uc002pjk.3,p.D858N|ENST00000600059,p.D829N|ENST00000270238,p.D858N	protein_coding	uc002pjk.3	nonsynonymous SNV	exon12	c.G2572A	p.D858N	GVPRPRAPPEPPDPGAPRPPPDPGP	GVPRPRAPPEPPNPGAPRPPPDPGP	3.0	2.0	unscreened	-	4253_19:49001841-49001841 C>T_GVPRPRAPPEPPNPGAPRPPPDPGP
8:55539324-55539324 C>T	0.0	4253	MELANOMA	-	-	-	-	RP1	ENST00000220676,p.S961F|NM_006269,p.S961F|uc003xsd.1,p.S961F	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.C2882T	p.S961F	NNSFSGNDPHTNSGKISNFVMESNK	NNSFSGNDPHTNFGKISNFVMESNK	1.0	4.0	unscreened	-	4253_8:55539324-55539324 C>T_NNSFSGNDPHTNFGKISNFVMESNK
19:14584295-14584295 G>A	0.0	4253	MELANOMA	-	-	-	-	PTGER1	NM_000955,p.R280W|ENST00000292513,p.R280W|uc002mys.3,p.R280W	protein_coding	uc002mys.3	nonsynonymous SNV	exon2	c.C838T	p.R280W	SIASASTFFGGSRSSGSARRARAHD	SIASASTFFGGSWSSGSARRARAHD	4.0	2.0	unscreened	-	4253_19:14584295-14584295 G>A_SIASASTFFGGSWSSGSARRARAHD
6:38791338-38791338 G>A	0.0	4253	MELANOMA	-	-	-	-	DNAH8	ENST00000359357,p.E1024K|uc021yzh.1,p.E1241K|ENST00000449981,p.E1241K|ENST00000441566,p.E1024K|NM_001206927,p.E1241K|uc003ooe.2,p.E1024K|ENST00000327475,p.E1229K	protein_coding	uc021yzh.1	nonsynonymous SNV	exon28	c.G3721A	p.E1241K	TLWTEDRDVKVKEFLANNPSLTEIR	TLWTEDRDVKVKKFLANNPSLTEIR	3.0	3.0	unscreened	-	4253_6:38791338-38791338 G>A_TLWTEDRDVKVKKFLANNPSLTEIR
1:176863829-176863829 C>T	0.0	4253	MELANOMA	-	-	-	-	ASTN1	ENST00000361833,p.G937R|ENST00000424564,p.G937R|uc001glb.1,p.G937R|NM_001286164,p.G937R|uc001glc.3,p.G937R|NM_004319,p.G937R|ENST00000367657,p.G937R|ENST00000367654,p.G945R|uc001gld.1,p.G937R|NM_207108,p.G937R	protein_coding, processed_transcript	uc001gld.1	nonsynonymous SNV	exon17	c.G2809A	p.G937R	MAAGVRMECHSKGRCPSSCPLCHVT	MAAGVRMECHSKRRCPSSCPLCHVT	4.0	2.0	unscreened	-	4253_1:176863829-176863829 C>T_MAAGVRMECHSKRRCPSSCPLCHVT
12:52885463-52885463 C>T	0.0	4253	MELANOMA	-	-	-	-	KRT6A	NM_005554,p.E200K|ENST00000330722,p.E200K|uc001sam.3,p.E200K	retained_intron, protein_coding	uc001sam.3	nonsynonymous SNV	exon2	c.G598A	p.E200K	NKVLETKWTLLQEQGTKTVRQNLEP	NKVLETKWTLLQKQGTKTVRQNLEP	1.0	8.0	unscreened	-	4253_12:52885463-52885463 C>T_NKVLETKWTLLQKQGTKTVRQNLEP
4:38879841-38879841 C>T	1.0	4253	MELANOMA	-	-	-	-	FAM114A1	uc011byg.2,p.P48S|ENST00000510213,p.P48S|uc003gtn.3,p.P48S|NM_138389,p.P48S|ENST00000358869,p.P48S	retained_intron, protein_coding, processed_transcript	uc011byg.2	nonsynonymous SNV	exon2	c.C142T	p.P48S	SAAVSHEPTPADPRGEGHENAAVQG	SAAVSHEPTPADSRGEGHENAAVQG	10.0	4.0	unscreened	-	4253_4:38879841-38879841 C>T_SAAVSHEPTPADSRGEGHENAAVQG
7:141883120-141883120 G>A	0.0	4253	MELANOMA	-	-	-	-	LOC93432	NM_001293626,p.E1291K|ENST00000477922,p.E1291K	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon33	c.G3871A	p.E1291K	NETQYLPFIRGQENNVFIKWPDTND	NETQYLPFIRGQKNNVFIKWPDTND	2.0	3.0	unscreened	-	4253_7:141883120-141883120 G>A_NETQYLPFIRGQKNNVFIKWPDTND
19:38912770-38912770 C>T	0.0	4253	MELANOMA	-	-	-	-	RASGRP4	NM_001146203,p.G16E|ENST00000426920,p.G16E|NM_001146205,p.G16E|uc021utz.1,p.G16E|uc021uub.1,p.G16E|uc021uua.1,p.G16E|uc021uuf.1,p.G16E|ENST00000589358,p.G16E|ENST00000587738,p.G16E|uc021uue.1,p.G16E|NM_001146202,p.G16E|ENST00000293062,p.G16E|ENST00000587753,p.G16E|NM_170604,p.G16E|NM_001146207,p.G16E|ENST00000454404,p.G16E|uc021uuc.1,p.G16E|NM_001146206,p.G16E|NM_001146204,p.G16E|ENST00000589474,p.G16E|ENST00000586305,p.G16E|ENST00000433821,p.G16E|uc021uud.1,p.G16E	retained_intron, protein_coding, nonsense_mediated_decay	uc021uuf.1	nonsynonymous SNV	exon2	c.G47A	p.G16E	KDSKRKSHQECTGKIGGRGRPRQVR	KDSKRKSHQECTEKIGGRGRPRQVR	5.0	2.0	unscreened	-	4253_19:38912770-38912770 C>T_KDSKRKSHQECTEKIGGRGRPRQVR
11:118827944-118827944 C>T	0.0	4253	MELANOMA	-	-	-	-	UPK2	NM_006760,p.P79S|uc001puh.3,p.P79S|ENST00000264031,p.P79S	protein_coding, processed_transcript	uc001puh.3	nonsynonymous SNV	exon3	c.C235T	p.P79S	DSKVVTSSFVVPPCRGRRELVSVVD	DSKVVTSSFVVPSCRGRRELVSVVD	4.0	3.0	unscreened	-	4253_11:118827944-118827944 C>T_DSKVVTSSFVVPSCRGRRELVSVVD
5:177688741-177688741 C>T	0.0	4253	MELANOMA	-	-	-	-	COL23A1	uc010jkt.2,p.R76K	protein_coding, processed_transcript	uc010jkt.2	nonsynonymous SNV	exon6	c.G227A	p.R76K	KESPDKTARWAQRDPQGPRVSLEYL	KESPDKTARWAQKDPQGPRVSLEYL	6.0	4.0	unscreened	-	4253_5:177688741-177688741 C>T_KESPDKTARWAQKDPQGPRVSLEYL
2:207171117-207171117 C>T	0.0	4253	MELANOMA	-	-	-	-	ZDBF2	NM_001285549,p.A620V|uc002vbp.2,p.A622V|uc031rqy.1,p.A620V|ENST00000374423,p.A622V|NM_020923,p.A622V	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.C1859T	p.A620V	VHLKHKKRKPSSAKAHLDCDVSLGT	VHLKHKKRKPSSVKAHLDCDVSLGT	4.0	8.0	unscreened	-	4253_2:207171117-207171117 C>T_VHLKHKKRKPSSVKAHLDCDVSLGT
20:744407-744407 C>T	0.0	4253	MELANOMA	-	-	-	-	SLC52A3	uc002wed.4,p.E270K|uc002wee.2,p.E270K|NM_033409,p.E270K|ENST00000217254,p.E270K|ENST00000381944,p.E270K	protein_coding, processed_transcript	uc002wee.2	nonsynonymous SNV	exon3	c.G808A	p.E270K	DQVTLHSIRPREENDLGPAGTVDSS	DQVTLHSIRPREKNDLGPAGTVDSS	4.0	5.0	unscreened	-	4253_20:744407-744407 C>T_DQVTLHSIRPREKNDLGPAGTVDSS
2:119735421-119735421 G>A	0.0	4253	MELANOMA	-	-	-	-	MARCO	uc002tln.1,p.G226R|NM_006770,p.G226R|ENST00000541757,p.G148R|uc010yyf.1,p.G148R|ENST00000327097,p.G226R	retained_intron, protein_coding	uc010yyf.1	nonsynonymous SNV	exon9	c.G442A	p.G148R	GKQGATGTPGPQGEKGSKGDGGLIG	GKQGATGTPGPQREKGSKGDGGLIG	10.0	9.0	unscreened	-	4253_2:119735421-119735421 G>A_GKQGATGTPGPQREKGSKGDGGLIG
9:105767375-105767375 G>T	0.0	4253	MELANOMA	-	-	-	-	CYLC2	uc004bbs.2,p.K154N|ENST00000374798,p.K154N|ENST00000487798,p.K154N|NM_001340,p.K154N	protein_coding, processed_transcript	uc004bbs.2	nonsynonymous SNV	exon5	c.G462T	p.K154N	KKGKDIEKGKEEKLDAKKDSKKGKK	KKGKDIEKGKEENLDAKKDSKKGKK	1.0	2.0	unscreened	-	4253_9:105767375-105767375 G>T_KKGKDIEKGKEENLDAKKDSKKGKK
1:201181477-201181477 G>A	0.0	4253	MELANOMA	-	-	-	-	IGFN1	ENST00000335211,p.G2486R|NM_001164586,p.G2486R|uc001gwc.3,p.G2486R	retained_intron, protein_coding, nonsense_mediated_decay	uc001gwc.3	nonsynonymous SNV	exon12	c.G7456A	p.G2486R	GIPEASEAAGAKGKPDVKEWQDSSG	GIPEASEAAGAKRKPDVKEWQDSSG	3.0	8.0	unscreened	-	4253_1:201181477-201181477 G>A_GIPEASEAAGAKRKPDVKEWQDSSG
4:88583183-88583183 T>C	0.0	4253	MELANOMA	-	-	-	-	DMP1	ENST00000282479,p.Y69H|uc003hqv.3,p.Y85H|NM_001079911,p.Y69H|ENST00000339673,p.Y85H|NM_004407,p.Y85H|uc003hqw.3,p.Y69H	protein_coding	uc003hqw.3	nonsynonymous SNV	exon5	c.T205C	p.Y69H	EEGLGSDDHQYIYRLAGGFSRSTGK	EEGLGSDDHQYIHRLAGGFSRSTGK	3.0	6.0	unscreened	-	4253_4:88583183-88583183 T>C_EEGLGSDDHQYIHRLAGGFSRSTGK
1:173499097-173499097 C>T	0.0	4253	MELANOMA	-	-	-	-	SLC9C2	uc009wwe.2,p.E312K|uc001giz.2,p.E754K|ENST00000367714,p.E754K|NM_178527,p.E754K	protein_coding, processed_transcript	uc009wwe.2	nonsynonymous SNV	exon11	c.G934A	p.E312K	MYSITKGYIKSQEDAKLLIKQIAVC	MYSITKGYIKSQKDAKLLIKQIAVC	2.0	2.0	unscreened	-	4253_1:173499097-173499097 C>T_MYSITKGYIKSQKDAKLLIKQIAVC
5:168098222-168098222 C>T	0.0	4253	MELANOMA	-	-	ID=COSM3410117,COSM3410116;OCCURENCE=1(central_nervous_system)	-	SLIT3	ENST00000332966,p.D1377N|uc003mab.4,p.D1370N|NM_001271946,p.D1377N|ENST00000519560,p.D1370N|NM_003062,p.D1370N|ENST00000404867,p.D1370N|uc010jjg.4,p.D1377N	retained_intron, protein_coding, processed_transcript	uc010jjg.4	nonsynonymous SNV	exon34	c.G4129A	p.D1377N	GWTGPLCDQEARDPCLGHRCHHGKC	GWTGPLCDQEARNPCLGHRCHHGKC	5.0	6.0	unscreened	-	4253_5:168098222-168098222 C>T_GWTGPLCDQEARNPCLGHRCHHGKC
19:2403181-2403181 G>A	0.0	4253	MELANOMA	-	-	-	-	TMPRSS9	uc010xgx.2,p.E186K|uc002lvv.1,p.E220K|ENST00000332578,p.E186K|NM_182973,p.E186K	retained_intron, protein_coding, processed_transcript	uc010xgx.2	nonsynonymous SNV	exon5	c.G556A	p.E186K	CDDQEDCSDGSDEAHCECGLQPAWR	CDDQEDCSDGSDKAHCECGLQPAWR	3.0	8.0	unscreened	-	4253_19:2403181-2403181 G>A_CDDQEDCSDGSDKAHCECGLQPAWR
11:100912815-100912815 C>T	0.0	4253	MELANOMA	-	-	ID=COSM276721;OCCURENCE=1(large_intestine)	-	PGR	NM_001271162,p.R242Q|NM_000926,p.R836Q|uc001pgi.3,p.R570Q|uc001pgg.2,p.R217Q|uc001pgh.2,p.R836Q|NM_001271161,p.R570Q|ENST00000534013,p.R242Q|NM_001202474,p.R672Q|ENST00000263463,p.R734Q|uc031qdi.1,p.R242Q|ENST00000325455,p.R836Q	retained_intron, protein_coding, nonsense_mediated_decay	uc031qdi.1	nonsynonymous SNV	exon7	c.G725A	p.R242Q	LLLLNTIPLEGLRSQTQFEEMRSSY	LLLLNTIPLEGLQSQTQFEEMRSSY	3.0	2.0	unscreened	-	4253_11:100912815-100912815 C>T_LLLLNTIPLEGLQSQTQFEEMRSSY
3:167078496-167078496 C>T	0.0	4253	MELANOMA	-	-	-	-	ZBBX	ENST00000474464,p.V97M|uc003fep.3,p.V97M|ENST00000455345,p.V97M|NM_001199201,p.V97M|ENST00000392764,p.V68M|NM_024687,p.V97M|ENST00000392766,p.V97M|ENST00000307529,p.V97M|uc011bpc.2,p.V97M|NM_001199202,p.V68M|uc003feq.3,p.V68M|ENST00000392767,p.V97M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bpc.2	nonsynonymous SNV	exon7	c.G289A	p.V97M	NKGNVVKFSAGKVKLKLLKEQIQEP	NKGNVVKFSAGKMKLKLLKEQIQEP	1.0	2.0	unscreened	-	4253_3:167078496-167078496 C>T_NKGNVVKFSAGKMKLKLLKEQIQEP
5:40950086-40950086 G>A	0.0	4253	MELANOMA	-	-	-	-	C7	uc003jmh.3,p.E355K|ENST00000313164,p.E355K|NM_000587,p.E355K	retained_intron, protein_coding, processed_transcript	uc003jmh.3	nonsynonymous SNV	exon9	c.G1063A	p.E355K	HFVVKFSSHGCKELENALKAASGTQ	HFVVKFSSHGCKKLENALKAASGTQ	7.0	5.0	unscreened	-	4253_5:40950086-40950086 G>A_HFVVKFSSHGCKKLENALKAASGTQ
2:163005686-163005686 C>T	0.0	4253	MELANOMA	-	-	-	-	GCG	NM_002054,p.M1I|ENST00000375497,p.M1I|uc002ucc.4,p.M1I|ENST00000418842,p.M1I	retained_intron, protein_coding	uc002ucc.4	nonsynonymous SNV	exon2	c.G3A	p.M1I	MKSIYFVAGLFVM	IKSIYFVAGLFVM	2.0	2.0	unscreened	-	4253_2:163005686-163005686 C>T_IKSIYFVAGLFVM
5:13763009-13763009 T>C	0.0	4253	MELANOMA	-	-	-	-	DNAH5	ENST00000265104,p.Q3368R|uc003jfd.2,p.Q3368R|NM_001369,p.Q3368R	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon60	c.A10103G	p.Q3368R	LMTAGNFLQNLQQFPKDTINEEVIE	LMTAGNFLQNLQRFPKDTINEEVIE	3.0	6.0	unscreened	-	4253_5:13763009-13763009 T>C_LMTAGNFLQNLQRFPKDTINEEVIE
18:40323576-40323576 C>T	0.0	4253	MELANOMA	-	-	ID=COSM709556;OCCURENCE=1(lung)	-	RIT2	NM_002930,p.R179K|ENST00000326695,p.R179K|uc002lav.4,p.R179K	retained_intron, protein_coding	uc002lav.4	nonsynonymous SNV	exon5	c.G536A	p.R179K	RFCIDDAFHGLVREIRKKESMPSLM	RFCIDDAFHGLVKEIRKKESMPSLM	1.0	8.0	unscreened	-	4253_18:40323576-40323576 C>T_RFCIDDAFHGLVKEIRKKESMPSLM
15:34150083-34150083 G>A	1.0	4253	MELANOMA	0.0023	-	-	-	RYR3	uc001zhi.3,p.E4704K|ENST00000389232,p.E4704K|ENST00000415757,p.E4699K|NM_001243996,p.E4699K|NM_001036,p.E4704K|uc010bar.3,p.E4699K	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon98	c.G14095A	p.E4699K	FRKFYNKSEDDDEPDMKCDDMMTCY	FRKFYNKSEDDDKPDMKCDDMMTCY	4.0	2.0	unscreened	-	4253_15:34150083-34150083 G>A_FRKFYNKSEDDDKPDMKCDDMMTCY
19:22487554-22487554 G>A	0.0	4253	MELANOMA	-	-	-	-	ZNF729	NM_001242680,p.M74I|ENST00000357491,p.M74I|ENST00000601693,p.M74I|uc021urs.1,p.M74I	protein_coding	uc021urs.1	nonsynonymous SNV	exon3	c.G222A	p.M74I	ITCLKQGKEPWNMKRHEMVTKPPVM	ITCLKQGKEPWNIKRHEMVTKPPVM	2.0	8.0	unscreened	-	4253_19:22487554-22487554 G>A_ITCLKQGKEPWNIKRHEMVTKPPVM
16:20554243-20554243 C>T	0.0	4253	MELANOMA	-	-	-	-	ACSM2B	uc010bwf.1,p.R501Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bwf.1	nonsynonymous SNV	exon12	c.G1502A	p.R501Q	VETAVISSPDPVRGEVMGKQ	VETAVISSPDPVQGEVMGKQ	3.0	4.0	unscreened	-	4253_16:20554243-20554243 C>T_VETAVISSPDPVQGEVMGKQ
16:31372420-31372420 G>A	0.0	4253	MELANOMA	-	-	-	-	ITGAX	uc002ebt.3,p.E300K|ENST00000268296,p.E300K|ENST00000562522,p.E300K|uc002ebu.1,p.E300K|NM_000887,p.E300K|NM_001286375,p.E300K	retained_intron, protein_coding, processed_transcript	uc002ebu.1	nonsynonymous SNV	exon9	c.G898A	p.E300K	VGLAFQNRNSWKELNDIASKPSQEH	VGLAFQNRNSWKKLNDIASKPSQEH	7.0	6.0	unscreened	-	4253_16:31372420-31372420 G>A_VGLAFQNRNSWKKLNDIASKPSQEH
12:7922720-7922720 G>A	0.0	4253	MELANOMA	0.01	-	-	-	NANOGNB	ENST00000382119,p.E82K|NM_001145465,p.E82K|uc009zfx.2,p.E82K	protein_coding	uc009zfx.2	nonsynonymous SNV	exon2	c.G244A	p.E82K	GRKREREKEEKNEKELQDEQENKRK	GRKREREKEEKNKKELQDEQENKRK	3.0	2.0	unscreened	-	4253_12:7922720-7922720 G>A_GRKREREKEEKNKKELQDEQENKRK
17:57043203-57043203 G>A	0.0	4253	MELANOMA	-	-	-	-	PPM1E	NM_014906,p.M244I|uc002iwx.4,p.M244I|ENST00000308249,p.M244I	protein_coding	uc002iwx.4	nonsynonymous SNV	exon3	c.G732A	p.M244I	TSIHAIKNMRRKMEDKHVCIPDFNM	TSIHAIKNMRRKIEDKHVCIPDFNM	1.0	7.0	unscreened	-	4253_17:57043203-57043203 G>A_TSIHAIKNMRRKIEDKHVCIPDFNM
1:157668363-157668363 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1252331;OCCURENCE=1(oesophagus)	-	FCRL3	ENST00000368186,p.G37R|ENST00000485028,p.G37R|uc001fqz.4,p.G37R|ENST00000368184,p.G37R|ENST00000492769,p.G37R|NM_052939,p.G37R|ENST00000496769,p.G37R|uc001frc.1,p.G37R|ENST00000477837,p.G37R|uc001frb.3,p.G37R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001frc.1	nonsynonymous SNV	exon4	c.G109A	p.G37R	LLLNPPWSTAFKGEKVALICSSISH	LLLNPPWSTAFKREKVALICSSISH	4.0	5.0	unscreened	-	4253_1:157668363-157668363 C>T_LLLNPPWSTAFKREKVALICSSISH
15:34649546-34649546 G>A	0.0	4253	MELANOMA	-	-	-	1	NUTM1	NM_001284292,p.E1113K|NM_001284293,p.E1103K|uc010ucd.2,p.E1103K|uc010ucc.2,p.E1113K|uc001zif.3,p.E1085K|ENST00000537011,p.E1113K|ENST00000438749,p.E1103K|ENST00000333756,p.E1085K|NM_175741,p.E1085K	protein_coding	uc010ucd.2	nonsynonymous SNV	exon7	c.G3307A	p.E1103K	GKRALAGGPAPTEKTPHSGAQLGVP	GKRALAGGPAPTKKTPHSGAQLGVP	1.0	8.0	unscreened	-	4253_15:34649546-34649546 G>A_GKRALAGGPAPTKKTPHSGAQLGVP
2:120849189-120849189 G>A	0.0	4253	MELANOMA	-	-	-	-	EPB41L5	ENST00000443902,p.E368K|uc010flk.3,p.E368K|NM_020909,p.E368K|ENST00000452780,p.E368K|uc010fll.3,p.E368K|uc002tmh.4,p.E368K|uc002tmg.3,p.E368K|ENST00000331393,p.E368K|ENST00000443124,p.E368K|uc010flm.3,p.E172K|NM_001184937,p.E368K|NM_001184938,p.E368K|ENST00000263713,p.E368K|NM_001184939,p.E368K	retained_intron, protein_coding, processed_transcript	uc010flm.3	nonsynonymous SNV	exon6	c.G514A	p.E172K	TKTNKARRSTSFERRPSKRYSRRTL	TKTNKARRSTSFKRRPSKRYSRRTL	6.0	4.0	unscreened	-	4253_2:120849189-120849189 G>A_TKTNKARRSTSFKRRPSKRYSRRTL
20:19261725-19261725 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1024927;OCCURENCE=1(endometrium)	-	SLC24A3	uc002wrl.3,p.E89K|NM_020689,p.E89K|ENST00000328041,p.E89K	protein_coding	uc002wrl.3	nonsynonymous SNV	exon2	c.G265A	p.E89K	EDAGLRNSKNCTEPALHEFPNDIFT	EDAGLRNSKNCTKPALHEFPNDIFT	4.0	6.0	unscreened	-	4253_20:19261725-19261725 G>A_EDAGLRNSKNCTKPALHEFPNDIFT
8:110100411-110100411 C>T	0.0	4253	MELANOMA	-	-	-	-	TRHR	uc003ymz.4,p.P224S|NM_003301,p.P224S|ENST00000311762,p.P224S|ENST00000518632,p.P224S	protein_coding	uc003ymz.4	nonsynonymous SNV	exon1	c.C670T	p.P224S	GFIARILFLNPIPSDPKENSKTWKN	GFIARILFLNPISSDPKENSKTWKN	1.0	7.0	unscreened	-	4253_8:110100411-110100411 C>T_GFIARILFLNPISSDPKENSKTWKN
5:13729648-13729648 T>A	0.0	4253	MELANOMA	-	-	-	-	DNAH5	uc003jfd.2,p.K3928I|NM_001369,p.K3928I|uc003jfc.2,p.K96I|ENST00000265104,p.K3928I	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon69	c.A11783T	p.K3928I	LTLIKGGASLDLKACPPKPSKWILD	LTLIKGGASLDLIACPPKPSKWILD	3.0	7.0	unscreened	-	4253_5:13729648-13729648 T>A_LTLIKGGASLDLIACPPKPSKWILD
1:34209013-34209013 C>T	0.0	4253	MELANOMA	-	-	-	-	CSMD2	NM_001281956,p.E681K|ENST00000241312,p.E641K|uc001bxn.1,p.E641K|NM_052896,p.E641K|uc001bxm.1,p.E681K|ENST00000373381,p.E681K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon14	c.G1921A	p.E641K	FDFLVIKDGATAEAPVLGTFSGNQL	FDFLVIKDGATAKAPVLGTFSGNQL	3.0	7.0	unscreened	-	4253_1:34209013-34209013 C>T_FDFLVIKDGATAKAPVLGTFSGNQL
16:15725313-15725313 C>T	1.0	4253	MELANOMA	-	-	ID=COSM1163106;OCCURENCE=1(pancreas)	-	KIAA0430	uc010uzw.2,p.D426N|ENST00000344181,p.D248N|NM_001184998,p.D426N|NM_001184999,p.D423N|uc002ddq.3,p.D425N|ENST00000552553,p.D426N|ENST00000396368,p.D426N|ENST00000548025,p.D423N|uc002ddr.3,p.D426N|NM_014647,p.D426N|ENST00000540441,p.D426N|ENST00000602337,p.D423N|ENST00000551742,p.D426N|uc010uzv.2,p.D423N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uzw.2	nonsynonymous SNV	exon6	c.G1276A	p.D426N	VAHINATAKNAADDKLRQSLRRFAN	VAHINATAKNAANDKLRQSLRRFAN	9.0	7.0	unscreened	-	4253_16:15725313-15725313 C>T_VAHINATAKNAANDKLRQSLRRFAN
19:362409-362409 C>T	0.0	4253	MELANOMA	-	-	-	-	THEG	NM_199202,p.D287N|ENST00000342640,p.D311N|uc002lol.3,p.D311N|ENST00000346878,p.D287N|uc002lom.3,p.D287N|NM_016585,p.D311N	retained_intron, protein_coding	uc002lom.3	nonsynonymous SNV	exon7	c.G859A	p.D287N	RLLHLARPKAQSDKCVPDRDPRWEV	RLLHLARPKAQSNKCVPDRDPRWEV	2.0	8.0	unscreened	-	4253_19:362409-362409 C>T_RLLHLARPKAQSNKCVPDRDPRWEV
1:151105750-151105750 G>A	1.0	4253	MELANOMA	-	-	-	-	SEMA6C	NM_001178061,p.S700F|ENST00000368912,p.S660F|uc001ewv.3,p.S700F|uc001ewu.3,p.S668F|NM_001178062,p.S660F|uc001eww.3,p.S660F|ENST00000368913,p.S700F|ENST00000341697,p.S668F|ENST00000368914,p.S668F|NM_030913,p.S668F	protein_coding, processed_transcript	uc001eww.3	nonsynonymous SNV	exon19	c.C1979T	p.S660F	RLHGGGPEPPPPSKDGDAVQTPQLY	RLHGGGPEPPPPFKDGDAVQTPQLY	7.0	5.0	unscreened	-	4253_1:151105750-151105750 G>A_RLHGGGPEPPPPFKDGDAVQTPQLY
19:9087718-9087718 C>T	0.0	4253	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.G1366E|NM_024690,p.G1366E|ENST00000397910,p.G1366E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G4097A	p.G1366E	PKTESATPAAYSGSPKISSSPNLTS	PKTESATPAAYSESPKISSSPNLTS	2.0	7.0	unscreened	-	4253_19:9087718-9087718 C>T_PKTESATPAAYSESPKISSSPNLTS
8:105478908-105478908 C>T	0.0	4253	MELANOMA	-	-	-	-	DPYS	NM_001385,p.D81N|uc003yly.4,p.D81N|ENST00000351513,p.D81N	retained_intron, protein_coding, processed_transcript	uc003yly.4	nonsynonymous SNV	exon1	c.G241A	p.D81N	HMQFPFMGSRSIDDFHQGTKAALSG	HMQFPFMGSRSINDFHQGTKAALSG	5.0	6.0	unscreened	-	4253_8:105478908-105478908 C>T_HMQFPFMGSRSINDFHQGTKAALSG
11:7960806-7960806 C>T	0.0	4253	MELANOMA	-	-	-	-	OR10A3	uc010rbi.2,p.E88K|NM_001003745,p.E88K|ENST00000360759,p.E88K	protein_coding	uc010rbi.2	nonsynonymous SNV	exon1	c.G262A	p.E88K	VITPEMLVVLSTEKTMISFVGCFAQ	VITPEMLVVLSTKKTMISFVGCFAQ	2.0	3.0	unscreened	-	4253_11:7960806-7960806 C>T_VITPEMLVVLSTKKTMISFVGCFAQ
16:81320951-81320951 G>A	0.0	4253	MELANOMA	-	-	-	-	BCO1	uc002fgn.1,p.D452N|uc010vnp.1,p.D383N|NM_017429,p.D452N|ENST00000258168,p.D452N|ENST00000425577,p.D383N	protein_coding, nonsense_mediated_decay	uc010vnp.1	nonsynonymous SNV	exon9	c.G1147A	p.D383N	ILTKSSLKWREDDCWPAEPLFVPAP	ILTKSSLKWREDNCWPAEPLFVPAP	3.0	4.0	unscreened	-	4253_16:81320951-81320951 G>A_ILTKSSLKWREDNCWPAEPLFVPAP
5:23521159-23521159 G>A	0.0	4253	MELANOMA	-	-	-	-	PRDM9	ENST00000296682,p.E127K|NM_020227,p.E127K|uc003jgo.3,p.E127K	protein_coding	uc003jgo.3	nonsynonymous SNV	exon6	c.G379A	p.E127K	HQKGMPKASFSNESSLKELSRTANL	HQKGMPKASFSNKSSLKELSRTANL	1.0	6.0	unscreened	-	4253_5:23521159-23521159 G>A_HQKGMPKASFSNKSSLKELSRTANL
20:60990889-60990889 C>T	0.0	4253	MELANOMA	-	-	-	-	RBBP8NL	NM_080833,p.E167K|ENST00000252998,p.E167K|uc002ycw.2,p.E167K	protein_coding	uc002ycw.2	nonsynonymous SNV	exon7	c.G499A	p.E167K	WKAITEKPPGGHEEAEEDHQGVGLR	WKAITEKPPGGHKEAEEDHQGVGLR	1.0	8.0	unscreened	-	4253_20:60990889-60990889 C>T_WKAITEKPPGGHKEAEEDHQGVGLR
2:185801846-185801846 G>A	0.0	4253	MELANOMA	-	-	ID=COSM140436;OCCURENCE=1(skin)	-	ZNF804A	uc002uph.3,p.E575K|ENST00000302277,p.E575K|NM_194250,p.E575K	protein_coding	uc002uph.3	nonsynonymous SNV	exon4	c.G1723A	p.E575K	FTKSQIKQDTLDEKYNKIRLKETHE	FTKSQIKQDTLDKKYNKIRLKETHE	3.0	9.0	unscreened	-	4253_2:185801846-185801846 G>A_FTKSQIKQDTLDKKYNKIRLKETHE
4:156651336-156651336 G>A	1.0	4253	MELANOMA	-	-	-	-	GUCY1A3	uc003iow.3,p.E676K|NM_001130682,p.E676K|uc003ipb.3,p.E676K|NM_000856,p.E676K|uc003iox.3,p.E676K|ENST00000393832,p.E418K|uc010iqe.3,p.E441K|ENST00000455639,p.E676K|uc003ioy.3,p.E676K|ENST00000513574,p.E676K|uc010iqd.3,p.E675K|NM_001130685,p.E441K|ENST00000511108,p.E676K|ENST00000506455,p.E676K|uc003iov.3,p.E676K|NM_001130683,p.E676K|ENST00000296518,p.E676K|NM_001256449,p.E676K|uc003ioz.3,p.E441K|NM_001130684,p.E676K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iqe.3	nonsynonymous SNV	exon10	c.G1321A	p.E441K	TNSKPCFQKKDVEDGNANFLGKASG	TNSKPCFQKKDVKDGNANFLGKASG	5.0	6.0	unscreened	-	4253_4:156651336-156651336 G>A_TNSKPCFQKKDVKDGNANFLGKASG
16:1129853-1129853 G>A	0.0	4253	MELANOMA	-	-	-	-	SSTR5	ENST00000397547,p.D329N|NM_001053,p.D329N|NM_001172560,p.D329N|uc021taf.1,p.D329N|uc002ckq.3,p.D329N|ENST00000293897,p.D329N	protein_coding	uc021taf.1	nonsynonymous SNV	exon2	c.G985A	p.D329N	KVLCLRKGSGAKDADATEPRPDRIR	KVLCLRKGSGAKNADATEPRPDRIR	1.0	8.0	unscreened	-	4253_16:1129853-1129853 G>A_KVLCLRKGSGAKNADATEPRPDRIR
19:8953527-8953527 G>A	0.0	4253	MELANOMA	-	-	-	-	MBD3L1	ENST00000305625,p.S58N|uc002mko.2,p.S58N|NM_145208,p.S58N|ENST00000595891,p.S58N	protein_coding	uc002mko.2	nonsynonymous SNV	exon1	c.G173A	p.S58N	PGNEVRYHQWEESLEKPQQVCWQRR	PGNEVRYHQWEENLEKPQQVCWQRR	1.0	3.0	unscreened	-	4253_19:8953527-8953527 G>A_PGNEVRYHQWEENLEKPQQVCWQRR
20:43837073-43837073 G>A	0.0	4253	MELANOMA	-	-	-	-	SEMG1	uc002xnj.2,p.E319K|ENST00000372781,p.E379K|uc002xni.2,p.E379K|ENST00000244069,p.E319K|NM_003007,p.E379K	protein_coding	uc002xnj.2	nonsynonymous SNV	exon3	c.G955A	p.E319K	KDVSQRSIYSQTEKLVAGKSQIQAP	KDVSQRSIYSQTKKLVAGKSQIQAP	1.0	8.0	unscreened	-	4253_20:43837073-43837073 G>A_KDVSQRSIYSQTKKLVAGKSQIQAP
12:100169374-100169374 C>T	0.0	4253	MELANOMA	-	-	-	-	ANKS1B	uc001tge.2,p.E305K|ENST00000549866,p.E271K|ENST00000547776,p.E305K|NM_152788,p.E305K|ENST00000329257,p.E305K|uc009ztt.1,p.E271K	protein_coding, processed_transcript, nonsense_mediated_decay	uc009ztt.1	nonsynonymous SNV	exon6	c.G811A	p.E271K	VLEEPVQEDATQETHISSPVESPSQ	VLEEPVQEDATQKTHISSPVESPSQ	7.0	6.0	unscreened	-	4253_12:100169374-100169374 C>T_VLEEPVQEDATQKTHISSPVESPSQ
7:89854439-89854439 G>A	0.0	4253	MELANOMA	-	-	-	-	STEAP2	uc003uka.3,p.E15K|ENST00000394629,p.E15K|NM_001040666,p.E15K|NM_001040665,p.E15K|uc003ukc.3,p.E15K|uc010len.3,p.E15K|ENST00000394621,p.E15K|uc003ujy.2,p.E57K|uc003ujz.3,p.E15K|NM_001244945,p.E15K|NM_001244946,p.E15K|ENST00000428074,p.E15K|NM_152999,p.E15K|ENST00000394626,p.E15K|NM_001244944,p.E15K|uc003ukd.3,p.E15K|ENST00000394632,p.E15K|ENST00000394622,p.E15K|ENST00000426158,p.E15K|ENST00000402625,p.E15K|uc003ukb.3,p.E15K|ENST00000287908,p.E15K	retained_intron, protein_coding	uc010len.3	nonsynonymous SNV	exon3	c.G43A	p.E15K	SISMMGSPKSLSETFLPNGINGIKD	SISMMGSPKSLSKTFLPNGINGIKD	5.0	4.0	unscreened	-	4253_7:89854439-89854439 G>A_SISMMGSPKSLSKTFLPNGINGIKD
2:229890359-229890359 C>T	0.0	4253	MELANOMA	-	-	-	-	PID1	NM_017933,p.D246N|uc002vps.4,p.D246N|NM_001100818,p.D215N|ENST00000392054,p.D246N|uc002vpt.4,p.D215N|ENST00000392055,p.D215N|ENST00000354069,p.D248N|uc002vpr.4,p.D248N|uc002vpu.4,p.D166N|ENST00000409462,p.D166N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002vpu.4	nonsynonymous SNV	exon2	c.G496A	p.D166N	SSSEEVSQELESDDG	SSSEEVSQELESNDG	4.0	2.0	unscreened	-	4253_2:229890359-229890359 C>T_SSSEEVSQELESNDG
5:79030063-79030063 A>T	0.0	4253	MELANOMA	-	-	-	-	CMYA5	NM_153610,p.E1825D|ENST00000446378,p.E1825D|uc003kgc.3,p.E1825D	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.A5475T	p.E1825D	APSDLLVEQKKTEKALHSDQTVKLP	APSDLLVEQKKTDKALHSDQTVKLP	5.0	7.0	unscreened	-	4253_5:79030063-79030063 A>T_APSDLLVEQKKTDKALHSDQTVKLP
2:119731998-119731998 G>A	0.0	4253	MELANOMA	-	-	-	-	MARCO	NM_006770,p.G184R|ENST00000327097,p.G184R|uc010yyf.1,p.G106R|uc002tln.1,p.G184R|ENST00000541757,p.G106R	retained_intron, protein_coding	uc010yyf.1	nonsynonymous SNV	exon6	c.G316A	p.G106R	GPPAEKGAKGAMGRDGATGPSGPQG	GPPAEKGAKGAMRRDGATGPSGPQG	10.0	3.0	unscreened	-	4253_2:119731998-119731998 G>A_GPPAEKGAKGAMRRDGATGPSGPQG
15:85400749-85400749 C>T	0.0	4253	MELANOMA	-	-	-	-	ALPK3	NM_020778,p.T1129I|uc002ble.3,p.T1129I|ENST00000258888,p.T1129I	retained_intron, protein_coding	uc002ble.3	nonsynonymous SNV	exon6	c.C3386T	p.T1129I	GLGTPTQSHPPETMATSSEGACAQV	GLGTPTQSHPPEIMATSSEGACAQV	4.0	3.0	unscreened	-	4253_15:85400749-85400749 C>T_GLGTPTQSHPPEIMATSSEGACAQV
2:74717843-74717843 G>A	1.0	4253	MELANOMA	-	-	-	-	TTC31	ENST00000442235,p.E31K|uc002slt.2,p.E175K|uc002slu.2,p.E31K|ENST00000233623,p.E175K|uc002sls.2,p.E104K|ENST00000410003,p.E175K|NM_022492,p.E175K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002slu.2	nonsynonymous SNV	exon4	c.G91A	p.E31K	LVAEEERMKQKAEKKRLKKKRQKER	LVAEEERMKQKAKKKRLKKKRQKER	8.0	2.0	unscreened	-	4253_2:74717843-74717843 G>A_LVAEEERMKQKAKKKRLKKKRQKER
5:149404188-149404188 C>T	1.0	4253	MELANOMA	-	-	-	-	HMGXB3	ENST00000503427,p.P437S|ENST00000502717,p.P469S|NM_014983,p.P469S|uc003lrk.4,p.P469S	retained_intron, protein_coding, nonsense_mediated_decay	uc003lrk.4	nonsynonymous SNV	exon7	c.C1405T	p.P469S	TDNDSPGADVPTPSEGTSTSSPLPA	TDNDSPGADVPTSSEGTSTSSPLPA	8.0	7.0	unscreened	-	4253_5:149404188-149404188 C>T_TDNDSPGADVPTSSEGTSTSSPLPA
5:13737447-13737447 C>T	0.0	4253	MELANOMA	-	-	-	-	DNAH5	ENST00000265104,p.R3790K|NM_001369,p.R3790K|uc003jfd.2,p.R3790K	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon66	c.G11369A	p.R3790K	DESLIVVLSNTKRTAEEVTQKLEIS	DESLIVVLSNTKKTAEEVTQKLEIS	3.0	5.0	unscreened	-	4253_5:13737447-13737447 C>T_DESLIVVLSNTKKTAEEVTQKLEIS
5:140202306-140202306 G>A	0.0	4253	MELANOMA	-	-	-	-	PCDHA5	ENST00000378126,p.E316K|uc003lhj.1,p.E316K|NM_018908,p.E316K|ENST00000529619,p.E316K|ENST00000529859,p.E316K|uc003lhl.2,p.E316K|NM_031501,p.E316K|uc003lhk.1,p.E316K	protein_coding	uc003lhl.2	nonsynonymous SNV	exon1	c.G946A	p.E316K	NGELDYEDYNSYEINIDAMDKSTFP	NGELDYEDYNSYKINIDAMDKSTFP	4.0	5.0	unscreened	-	4253_5:140202306-140202306 G>A_NGELDYEDYNSYKINIDAMDKSTFP
3:122003665-122003665 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1693321;OCCURENCE=1(skin)	-	CASR	ENST00000296154,p.R955Q|NM_001178065,p.R965Q|ENST00000498619,p.R965Q|uc003eev.4,p.R955Q|NM_000388,p.R955Q|uc003eew.4,p.R965Q|ENST00000490131,p.R955Q	retained_intron, protein_coding	uc003eew.4	nonsynonymous SNV	exon7	c.G2894A	p.R965Q	QQQQPLTLPQQQRSQQQPRCKQKVI	QQQQPLTLPQQQQSQQQPRCKQKVI	1.0	2.0	unscreened	-	4253_3:122003665-122003665 G>A_QQQQPLTLPQQQQSQQQPRCKQKVI
12:70004616-70004616 C>T	0.0	4253	MELANOMA	-	-	-	-	LRRC10	ENST00000361484,p.M1I|uc001svc.3,p.M1I|NM_201550,p.M1I	protein_coding	uc001svc.3	nonsynonymous SNV	exon1	c.G3A	p.M1I	MGNTIRALVAFIP	IGNTIRALVAFIP	1.0	3.0	unscreened	-	4253_12:70004616-70004616 C>T_IGNTIRALVAFIP
19:7678017-7678017 G>A	0.0	4253	MELANOMA	-	-	-	-	CAMSAP3	uc002mgu.4,p.E907K|NM_001080429,p.E907K|ENST00000160298,p.E880K|uc002mgv.4,p.E880K|ENST00000446248,p.E907K|NM_020902,p.E880K	retained_intron, protein_coding	uc002mgv.4	nonsynonymous SNV	exon11	c.G2638A	p.E880K	EDSLEEEASSEGEPRVGLGFFYKDE	EDSLEEEASSEGKPRVGLGFFYKDE	2.0	3.0	unscreened	-	4253_19:7678017-7678017 G>A_EDSLEEEASSEGKPRVGLGFFYKDE
4:166935656-166935656 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1131187;OCCURENCE=1(prostate)	-	TLL1	uc021xud.1,p.R329Q|NM_012464,p.R329Q|ENST00000513213,p.R329Q|ENST00000061240,p.R329Q|uc003irh.2,p.R329Q|NM_001204760,p.R329Q|ENST00000507499,p.R329Q|uc011cjn.2,p.R329Q|uc011cjo.2,p.R153Q	protein_coding, nonsense_mediated_decay	uc021xud.1	nonsynonymous SNV	exon8	c.G986A	p.R329Q	RDDNGIRPAIGQRTRLSKGDIAQAR	RDDNGIRPAIGQQTRLSKGDIAQAR	3.0	5.0	unscreened	-	4253_4:166935656-166935656 G>A_RDDNGIRPAIGQQTRLSKGDIAQAR
11:7982365-7982365 C>T	0.0	4253	MELANOMA	-	-	-	-	NLRP10	ENST00000328600,p.R265K|uc001mfv.1,p.R265K|NM_176821,p.R265K	protein_coding	uc001mfv.1	nonsynonymous SNV	exon2	c.G794A	p.R265K	ELQRPFEEKLKKRGLSPKESLLHLL	ELQRPFEEKLKKKGLSPKESLLHLL	1.0	8.0	unscreened	-	4253_11:7982365-7982365 C>T_ELQRPFEEKLKKKGLSPKESLLHLL
3:114070306-114070306 A>T	1.0	4253	MELANOMA	-	-	-	-	ZBTB20	NM_001164344,p.S134T|ENST00000474710,p.S207T|uc003ebn.3,p.S134T|uc010hqp.3,p.S134T|uc003ebm.3,p.S134T|uc003ebk.3,p.S134T|uc003ebl.3,p.S134T|ENST00000464560,p.S134T|NM_001164342,p.S207T|ENST00000393785,p.S134T|NM_001164343,p.S134T|uc003ebj.3,p.S134T|ENST00000357258,p.S134T|uc003ebi.3,p.S207T|NM_001164347,p.S134T|NM_001164345,p.S134T|NM_001164346,p.S134T|ENST00000471418,p.S134T|NM_015642,p.S134T|ENST00000462705,p.S134T|ENST00000481632,p.S134T	protein_coding, processed_transcript	uc010hqp.3	nonsynonymous SNV	exon5	c.T400A	p.S134T	QNVGDVFPGIQDSGQDTPRGTPESG	QNVGDVFPGIQDTGQDTPRGTPESG	9.0	3.0	unscreened	-	4253_3:114070306-114070306 A>T_QNVGDVFPGIQDTGQDTPRGTPESG
8:17198952-17198952 C>T	0.0	4253	MELANOMA	-	-	-	-	MTMR7	ENST00000180173,p.E218K|NM_004686,p.E218K|uc003wxm.3,p.E218K|ENST00000521857,p.E218K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wxm.3	nonsynonymous SNV	exon6	c.G652A	p.E218K	SQPLSGFSARCLEDEQMLQAIRKAN	SQPLSGFSARCLKDEQMLQAIRKAN	2.0	4.0	unscreened	-	4253_8:17198952-17198952 C>T_SQPLSGFSARCLKDEQMLQAIRKAN
2:163241233-163241233 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1691225;OCCURENCE=1(skin)	-	KCNH7	uc002uch.2,p.R976K|NM_033272,p.R976K|ENST00000332142,p.R976K	protein_coding, processed_transcript	uc002uch.2	nonsynonymous SNV	exon13	c.G2927A	p.R976K	GLDFEETVPTSGRMHIDKRSHSCKD	GLDFEETVPTSGKMHIDKRSHSCKD	1.0	4.0	unscreened	-	4253_2:163241233-163241233 C>T_GLDFEETVPTSGKMHIDKRSHSCKD
4:42895369-42895369 T>C	0.0	4253	MELANOMA	-	-	-	-	GRXCR1	ENST00000399770,p.L29P|NM_001080476,p.L29P|uc003gwt.3,p.L29P	protein_coding	uc003gwt.3	nonsynonymous SNV	exon1	c.T86C	p.L29P	RFRIASSHSGRVLKEVYEDGQPSGS	RFRIASSHSGRVPKEVYEDGQPSGS	1.0	6.0	unscreened	-	4253_4:42895369-42895369 T>C_RFRIASSHSGRVPKEVYEDGQPSGS
7:102574476-102574476 G>A	0.0	4253	MELANOMA	0.0009	-	-	-	LRRC17	uc003vau.3,p.R39Q|ENST00000249377,p.R39Q|NM_001031692,p.R39Q|NM_005824,p.R39Q|uc003vat.3,p.R39Q|ENST00000455453,p.R39Q|ENST00000339431,p.R39Q	protein_coding, processed_transcript	uc003vau.3	nonsynonymous SNV	exon2	c.G116A	p.R39Q	RSRVNHGRAGGGRRGSNPVKRYAPG	RSRVNHGRAGGGQRGSNPVKRYAPG	6.0	4.0	unscreened	-	4253_7:102574476-102574476 G>A_RSRVNHGRAGGGQRGSNPVKRYAPG
1:152279066-152279066 G>A	0.0	4253	MELANOMA	-	-	-	-	FLG	uc001ezu.1,p.R2766C|NM_002016,p.R2766C|ENST00000368799,p.R2766C	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.C8296T	p.R2766C	WTGPSTRGRQGSRHEQAQDSSRHSA	WTGPSTRGRQGSCHEQAQDSSRHSA	1.0	3.0	unscreened	-	4253_1:152279066-152279066 G>A_WTGPSTRGRQGSCHEQAQDSSRHSA
12:55945013-55945013 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1705776;OCCURENCE=1(skin)	-	OR6C4	ENST00000394256,p.M1I|NM_001005494,p.M1I|uc010spp.2,p.M1I	protein_coding	uc010spp.2	nonsynonymous SNV	exon1	c.G3A	p.M1I	MKNRTMFGEFILL	IKNRTMFGEFILL	1.0	7.0	unscreened	-	4253_12:55945013-55945013 G>A_IKNRTMFGEFILL
8:39442193-39442193 G>A	0.0	4253	MELANOMA	-	-	-	-	ADAM18	NM_001190956,p.E18K|NM_014237,p.E18K|ENST00000520087,p.E18K|ENST00000379866,p.E18K|ENST00000520001,p.E18K|uc003xnh.3,p.E18K|ENST00000520772,p.E18K|uc003xni.3,p.E18K|uc010lwx.3,p.E18K|ENST00000265707,p.E18K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lwx.3	nonsynonymous SNV	exon1	c.G52A	p.E18K	ALLTELGRLQAHEGSEGIFLHVTVP	ALLTELGRLQAHKGSEGIFLHVTVP	2.0	6.0	unscreened	-	4253_8:39442193-39442193 G>A_ALLTELGRLQAHKGSEGIFLHVTVP
12:29904702-29904702 A>G	0.0	4253	MELANOMA	-	-	-	-	TMTC1	uc001rjb.3,p.F171L|NM_175861,p.F171L|ENST00000539277,p.F279L|ENST00000551659,p.F279L|uc001rjc.1,p.F171L|ENST00000381224,p.F171L|uc021qwi.1,p.F279L|ENST00000552618,p.F279L|ENST00000256062,p.F171L|NM_001193451,p.F279L	retained_intron, protein_coding, processed_transcript	uc021qwi.1	nonsynonymous SNV	exon5	c.T835C	p.F279L	GHPHRENGKQQRFPHKGAWGGCHSP	GHPHRENGKQQRLPHKGAWGGCHSP	5.0	7.0	unscreened	-	4253_12:29904702-29904702 A>G_GHPHRENGKQQRLPHKGAWGGCHSP
2:227927285-227927285 G>A	0.0	4253	MELANOMA	-	-	-	-	COL4A4	uc021vxs.1,p.P673S|ENST00000329662,p.P673S|NM_000092,p.P673S|uc021vxr.1,p.P673S|ENST00000396625,p.P673S	protein_coding	uc021vxs.1	nonsynonymous SNV	exon26	c.C2017T	p.P673S	QKGDTISCNVTYPGRHGPPGFDGPP	QKGDTISCNVTYSGRHGPPGFDGPP	1.0	3.0	unscreened	-	4253_2:227927285-227927285 G>A_QKGDTISCNVTYSGRHGPPGFDGPP
17:18874752-18874752 C>T	0.0	4253	MELANOMA	-	-	-	-	FAM83G	NM_001039999,p.A798T|ENST00000388995,p.A798T|uc002guw.3,p.A798T|ENST00000345041,p.A798T|ENST00000585154,p.A798T	retained_intron, protein_coding	uc002guw.3	nonsynonymous SNV	exon6	c.G2392A	p.A798T	PYSKLSQSKHLKARTGGSQWASSDS	PYSKLSQSKHLKTRTGGSQWASSDS	5.0	7.0	unscreened	-	4253_17:18874752-18874752 C>T_PYSKLSQSKHLKTRTGGSQWASSDS
17:53155491-53155491 G>A	1.0	4253	MELANOMA	-	-	-	-	STXBP4	uc010dcd.1,p.R392Q|ENST00000376352,p.R414Q|ENST00000434978,p.R392Q|uc002iuf.1,p.R414Q|NM_178509,p.R414Q	retained_intron, protein_coding	uc010dcd.1	nonsynonymous SNV	exon13	c.G1175A	p.R392Q	LKKRIMVLDCQLRKSEMARKTFEAS	LKKRIMVLDCQLQKSEMARKTFEAS	7.0	6.0	unscreened	-	4253_17:53155491-53155491 G>A_LKKRIMVLDCQLQKSEMARKTFEAS
17:18881492-18881492 C>T	0.0	4253	MELANOMA	-	-	-	-	FAM83G	ENST00000585154,p.G496E|ENST00000345041,p.G496E|NM_001039999,p.G496E|ENST00000388995,p.G496E|uc002guw.3,p.G496E	retained_intron, protein_coding	uc002guw.3	nonsynonymous SNV	exon5	c.G1487A	p.G496E	QDGVPAENGLPQGDPEPLPPVPKPR	QDGVPAENGLPQEDPEPLPPVPKPR	5.0	4.0	unscreened	-	4253_17:18881492-18881492 C>T_QDGVPAENGLPQEDPEPLPPVPKPR
5:38406958-38406958 G>A	1.0	4253	MELANOMA	-	-	-	-	EGFLAM	NM_001205301,p.G286E|uc003jle.2,p.G52E|NM_182798,p.G52E|uc003jlb.2,p.G286E|ENST00000322350,p.G286E|NM_152403,p.G286E|ENST00000336740,p.G52E|ENST00000354891,p.G286E|uc003jlc.2,p.G286E	retained_intron, protein_coding, nonsense_mediated_decay	uc003jle.2	nonsynonymous SNV	exon3	c.G155A	p.G52E	FEEVKPLPATKGGNKKFLVESKKMS	FEEVKPLPATKGENKKFLVESKKMS	9.0	5.0	unscreened	-	4253_5:38406958-38406958 G>A_FEEVKPLPATKGENKKFLVESKKMS
5:89990474-89990474 G>A	0.0	4253	MELANOMA	-	-	-	-	GPR98	NM_032119,p.G2634D|uc003kjv.3,p.G234D|uc003kju.3,p.G2634D|ENST00000405460,p.G2634D	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon1	c.G701A	p.G234D	VEWRVVGGTATEGLDFIGAGEILTF	VEWRVVGGTATEDLDFIGAGEILTF	4.0	4.0	unscreened	-	4253_5:89990474-89990474 G>A_VEWRVVGGTATEDLDFIGAGEILTF
1:40769244-40769244 C>T	1.0	4253	MELANOMA	-	-	-	-	COL9A2	ENST00000427563,p.G106E	retained_intron, protein_coding, processed_transcript	ENST00000427563	nonsynonymous SNV	exon6	c.G317A	p.G106E	ATLVPPALEDWPGTEACQDSPGDRA	ATLVPPALEDWPETEACQDSPGDRA	7.0	6.0	unscreened	-	4253_1:40769244-40769244 C>T_ATLVPPALEDWPETEACQDSPGDRA
6:47678608-47678608 G>A	0.0	4253	MELANOMA	-	-	-	-	GPR115	NM_153838,p.E96K|uc003ozb.1,p.E96K|uc003oza.1,p.E96K|ENST00000371220,p.E153K|ENST00000327753,p.E96K|uc003oyz.1,p.E153K|ENST00000283303,p.E96K	protein_coding	uc003ozb.1	nonsynonymous SNV	exon4	c.G286A	p.E96K	QKSAETCTSLSVEKLFKDSTGASRL	QKSAETCTSLSVKKLFKDSTGASRL	2.0	4.0	unscreened	-	4253_6:47678608-47678608 G>A_QKSAETCTSLSVKKLFKDSTGASRL
4:165962195-165962195 G>A	0.0	4253	MELANOMA	-	-	ID=COSM173539;OCCURENCE=1(large_intestine)	-	TRIM60	ENST00000512596,p.R324Q|uc010iqx.2,p.R324Q|ENST00000341062,p.R324Q|NM_152620,p.R324Q|NM_001258025,p.R324Q|uc003iqy.1,p.R324Q|uc021xty.1,p.R324Q|ENST00000508504,p.R324Q	protein_coding	uc021xty.1	nonsynonymous SNV	exon1	c.G971A	p.R324Q	EDRKAVRYERKKRNICYDPRRFYVC	EDRKAVRYERKKQNICYDPRRFYVC	1.0	6.0	unscreened	-	4253_4:165962195-165962195 G>A_EDRKAVRYERKKQNICYDPRRFYVC
5:149630342-149630342 G>A	0.0	4253	MELANOMA	-	-	-	-	CAMK2A	uc010jhf.1,p.R80W	retained_intron, protein_coding, processed_transcript	uc010jhf.1	nonsynonymous SNV	exon4	c.C238T	p.R80W	MISHRRNGTLSPRKPRI	MISHRRNGTLSPWKPRI	3.0	6.0	unscreened	-	4253_5:149630342-149630342 G>A_MISHRRNGTLSPWKPRI
8:53126771-53126771 C>T	0.0	4253	MELANOMA	-	-	ID=COSM223262;OCCURENCE=1(skin)	-	ST18	ENST00000517580,p.G16E|uc003xrb.2,p.G16E|NM_014682,p.G16E|uc003xra.2,p.G16E|uc003xqz.2,p.G16E|ENST00000276480,p.G16E|ENST00000521582,p.G16E|ENST00000522251,p.G16E|ENST00000521824,p.G16E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xrb.2	nonsynonymous SNV	exon7	c.G47A	p.G16E	EAEDKTLRTRSKGTEVPMDSLIQEL	EAEDKTLRTRSKETEVPMDSLIQEL	3.0	7.0	unscreened	-	4253_8:53126771-53126771 C>T_EAEDKTLRTRSKETEVPMDSLIQEL
4:126328278-126328278 C>T	0.0	4253	MELANOMA	-	-	-	1	FAT4	uc003ifj.4,p.P1851S|ENST00000394329,p.P1851S|uc011cgp.2,p.P149S|NM_001291303,p.P1851S|NM_001291285,p.P1851S|NM_024582,p.P1851S|ENST00000335110,p.P149S	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon3	c.C445T	p.P149S	PKFSRPVYSFDIPEDTIPGSLVAAI	PKFSRPVYSFDISEDTIPGSLVAAI	4.0	6.0	unscreened	-	4253_4:126328278-126328278 C>T_PKFSRPVYSFDISEDTIPGSLVAAI
13:46358143-46358143 C>T	0.0	4253	MELANOMA	-	-	-	-	SIAH3	ENST00000400405,p.S62N|uc001vap.3,p.S62N|NM_198849,p.S62N	protein_coding, processed_transcript	uc001vap.3	nonsynonymous SNV	exon2	c.G185A	p.S62N	RRAVTQSAPEQGSFHPHHLSHHHCH	RRAVTQSAPEQGNFHPHHLSHHHCH	1.0	5.0	unscreened	-	4253_13:46358143-46358143 C>T_RRAVTQSAPEQGNFHPHHLSHHHCH
5:44305167-44305167 G>T	0.0	4253	MELANOMA	-	-	-	-	FGF10	ENST00000264664,p.P186Q|NM_004465,p.P186Q|uc003jog.1,p.P186Q	protein_coding	uc003jog.1	nonsynonymous SNV	exon3	c.C557A	p.P186Q	RQMYVALNGKGAPRRGQKTRRKNTS	RQMYVALNGKGAQRRGQKTRRKNTS	1.0	6.0	unscreened	-	4253_5:44305167-44305167 G>T_RQMYVALNGKGAQRRGQKTRRKNTS
4:74853298-74853298 G>A	0.0	4253	MELANOMA	-	-	-	-	PPBP	NM_002704,p.P74S|uc003hhj.3,p.P74S|ENST00000296028,p.P74S	protein_coding	uc003hhj.3	nonsynonymous SNV	exon2	c.C220T	p.P74S	RCMCIKTTSGIHPKNIQSLEVIGKG	RCMCIKTTSGIHSKNIQSLEVIGKG	4.0	6.0	unscreened	-	4253_4:74853298-74853298 G>A_RCMCIKTTSGIHSKNIQSLEVIGKG
6:55990399-55990399 C>T	0.0	4253	MELANOMA	-	-	-	-	COL21A1	ENST00000535941,p.G539E|ENST00000370819,p.G536E|NM_030820,p.G539E|uc003pcs.3,p.G539E|ENST00000244728,p.G539E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pcs.3	nonsynonymous SNV	exon14	c.G1616A	p.G539E	GMPGSKGEMGAKGDKGSPGFYGKKG	GMPGSKGEMGAKEDKGSPGFYGKKG	4.0	5.0	unscreened	-	4253_6:55990399-55990399 C>T_GMPGSKGEMGAKEDKGSPGFYGKKG
8:40532376-40532376 C>T	0.0	4253	MELANOMA	-	-	-	-	ZMAT4	uc003xnr.3,p.D142N|NM_024645,p.D142N|ENST00000297737,p.D142N|ENST00000519406,p.D142N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xnr.3	nonsynonymous SNV	exon5	c.G424A	p.D142N	TAPVVASPYQRRDSDRYCGLCAAWF	TAPVVASPYQRRNSDRYCGLCAAWF	5.0	5.0	unscreened	-	4253_8:40532376-40532376 C>T_TAPVVASPYQRRNSDRYCGLCAAWF
9:40705044-40705044 G>A	0.0	4253	MELANOMA	-	-	-	-	SPATA31A3	uc010mmj.3,p.G901R|NM_001083124,p.G901R|ENST00000356699,p.G901R	protein_coding, processed_transcript	uc010mmj.3	nonsynonymous SNV	exon4	c.G2701A	p.G901R	SPAWKQFQRAPRGIPSWNDHEPLKP	SPAWKQFQRAPRRIPSWNDHEPLKP	1.0	6.0	unscreened	-	4253_9:40705044-40705044 G>A_SPAWKQFQRAPRRIPSWNDHEPLKP
8:38369985-38369985 G>A	0.0	4253	MELANOMA	-	-	-	-	C8orf86	ENST00000437935,p.S140F	protein_coding	ENST00000437935	nonsynonymous SNV	exon2	c.C419T	p.S140F	DWKCTFSSPAQNS	DWKCTFSSPAQNF	1.0	5.0	unscreened	-	4253_8:38369985-38369985 G>A_DWKCTFSSPAQNF
17:1173951-1173951 G>A	0.0	4253	MELANOMA	-	-	-	-	BHLHA9	NM_001164405,p.G32S|ENST00000391429,p.G32S|uc021tnd.1,p.G32S	protein_coding	uc021tnd.1	nonsynonymous SNV	exon1	c.G94A	p.G32S	AEDLGGPCPEPGGDSGVLGANGASC	AEDLGGPCPEPGSDSGVLGANGASC	3.0	6.0	unscreened	-	4253_17:1173951-1173951 G>A_AEDLGGPCPEPGSDSGVLGANGASC
7:132169747-132169747 C>T	0.0	4253	MELANOMA	-	-	-	-	PLXNA4	ENST00000378539,p.G466E|uc003vrb.3,p.G466E|NM_181775,p.G466E	retained_intron, protein_coding	uc003vrb.3	nonsynonymous SNV	exon5	c.G1397A	p.G466E	KLKKSFGTGPQGGITQEWIGVEGDP	KLKKSFGTGPQGEITQEWIGVEGDP	4.0	4.0	unscreened	-	4253_7:132169747-132169747 C>T_KLKKSFGTGPQGEITQEWIGVEGDP
12:49392234-49392234 C>T	0.0	4253	MELANOMA	-	-	-	-	DDN	ENST00000421952,p.R142Q|NM_015086,p.R142Q|uc001rsv.1,p.R142Q	protein_coding	uc001rsv.1	nonsynonymous SNV	exon2	c.G425A	p.R142Q	RKAGGARRSPPGRPRPEPRNAPRVA	RKAGGARRSPPGQPRPEPRNAPRVA	3.0	7.0	unscreened	-	4253_12:49392234-49392234 C>T_RKAGGARRSPPGQPRPEPRNAPRVA
4:54347979-54347979 G>A	0.0	4253	MELANOMA	-	-	-	-	LNX1	ENST00000263925,p.R465W|uc003haf.4,p.R369W|NM_032622,p.R369W|NM_001126328,p.R465W|uc003hag.5,p.R465W|ENST00000306888,p.R369W	retained_intron, protein_coding, processed_transcript	uc003hag.5	nonsynonymous SNV	exon7	c.C1393T	p.R465W	ERRVHLVVSRQVRQRSPDIFQEAGW	ERRVHLVVSRQVWQRSPDIFQEAGW	4.0	7.0	unscreened	-	4253_4:54347979-54347979 G>A_ERRVHLVVSRQVWQRSPDIFQEAGW
7:154862682-154862682 G>A	0.0	4253	MELANOMA	-	-	-	-	HTR5A	NM_024012,p.G25S|uc003wlu.2,p.G25S|ENST00000287907,p.G25S	protein_coding, processed_transcript	uc003wlu.2	nonsynonymous SNV	exon1	c.G73A	p.G25S	STPSPLETNHSLGKDDLRPSSPLLS	STPSPLETNHSLSKDDLRPSSPLLS	3.0	3.0	unscreened	-	4253_7:154862682-154862682 G>A_STPSPLETNHSLSKDDLRPSSPLLS
7:154862683-154862683 G>A	0.0	4253	MELANOMA	-	-	-	-	HTR5A	uc003wlu.2,p.G25D|ENST00000287907,p.G25D|NM_024012,p.G25D	protein_coding, processed_transcript	uc003wlu.2	nonsynonymous SNV	exon1	c.G74A	p.G25D	STPSPLETNHSLGKDDLRPSSPLLS	STPSPLETNHSLDKDDLRPSSPLLS	3.0	3.0	unscreened	-	4253_7:154862683-154862683 G>A_STPSPLETNHSLDKDDLRPSSPLLS
5:121787256-121787256 G>A	1.0	4253	MELANOMA	-	-	-	-	SNCAIP	uc003ktc.1,p.G421E|uc011cwl.1,p.G463E|uc003ksx.1,p.G952E|ENST00000379538,p.G539E|NM_005460,p.G905E|ENST00000261368,p.G905E|uc003ksz.1,p.G539E|uc010jcx.1,p.G845E|ENST00000379533,p.G952E|uc010jcu.2,p.G501E|ENST00000509154,p.G845E|ENST00000261367,p.G952E|uc003kta.1,p.G537E|ENST00000542191,p.G463E|ENST00000414317,p.G507E|uc003ksw.1,p.G905E|ENST00000379536,p.G845E|NM_001242935,p.G539E|uc010jcw.1,p.G599E|uc003ksy.1,p.G539E|uc011cwm.1,p.G539E	retained_intron, protein_coding, nonsense_mediated_decay	uc011cwm.1	nonsynonymous SNV	exon8	c.G1616A	p.G539E	PLTSLGRKTDAKGNPASSASKGKNK	PLTSLGRKTDAKENPASSASKGKNK	5.0	6.0	unscreened	-	4253_5:121787256-121787256 G>A_PLTSLGRKTDAKENPASSASKGKNK
2:97505524-97505548 GCCGTGCCGCACGGCCTCGTGCAGA>-	0.0	4253	MELANOMA	-	-	-	-	ANKRD23	NM_144994,p.A246fs|ENST00000418232,p.A246fs|uc002sxc.3,p.A204fs|ENST00000318357,p.A246fs|ENST00000331001,p.A204fs|uc002sxa.3,p.A246fs	retained_intron, protein_coding, processed_transcript	uc002sxc.3	frameshift deletion	exon7	c.612_636del	p.A204fs	AHLNAQDKEGDTALHEAVRHGSYKA	AHLNAQDKEGDTAATKP	7.0	4.0	unscreened	-	4253_2:97505524-97505548 GCCGTGCCGCACGGCCTCGTGCAGA>-_AHLNAQDKEGDTAATKP
4:115856427-115856427 C>T	0.0	4253	MELANOMA	-	-	-	-	NDST4	ENST00000264363,p.G491R|uc003ibu.3,p.G491R|uc031sgw.1,p.G77R|ENST00000504854,p.G112R|NM_022569,p.G491R	retained_intron, protein_coding, nonsense_mediated_decay	uc031sgw.1	nonsynonymous SNV	exon6	c.G229A	p.G77R	FTHTIFYKEYPGGPQELDKSIRGGE	FTHTIFYKEYPGRPQELDKSIRGGE	3.0	6.0	unscreened	-	4253_4:115856427-115856427 C>T_FTHTIFYKEYPGRPQELDKSIRGGE
20:9438082-9438082 G>A	1.0	4253	MELANOMA	-	-	ID=COSM1713197;OCCURENCE=1(skin)	-	PLCB4	NM_000933,p.M994I|uc010gbw.1,p.M994I|uc002wnh.3,p.M841I|ENST00000378501,p.M994I|uc021wal.1,p.M994I|ENST00000414679,p.M1006I|ENST00000334005,p.M994I|ENST00000378493,p.M994I|uc010gbx.3,p.M1006I|NM_001172646,p.M1006I|ENST00000378473,p.M1006I|ENST00000278655,p.M994I|uc021wam.1,p.M994I|NM_182797,p.M994I	protein_coding, processed_transcript	uc021wam.1	nonsynonymous SNV	exon30	c.G2982A	p.M994I	AMKKKGGSNCLEMKKETEIKIQTLT	AMKKKGGSNCLEIKKETEIKIQTLT	4.0	6.0	unscreened	-	4253_20:9438082-9438082 G>A_AMKKKGGSNCLEIKKETEIKIQTLT
5:825296-825296 C>T	0.0	4253	MELANOMA	-	-	-	-	ZDHHC11	uc011cma.1,p.G336R|NM_024786,p.G336R|ENST00000283441,p.G336R|ENST00000424784,p.G336R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cma.1	nonsynonymous SNV	exon8	c.G1006A	p.G336R	HLCHFCTSVNQDGDSTAREGDEDPC	HLCHFCTSVNQDRDSTAREGDEDPC	6.0	6.0	unscreened	-	4253_5:825296-825296 C>T_HLCHFCTSVNQDRDSTAREGDEDPC
4:119978835-119978835 G>A	0.0	4253	MELANOMA	-	-	-	-	SYNPO2	uc010inb.3,p.E1178K|ENST00000307142,p.E1178K|uc010inc.3,p.E1048K|NM_001286754,p.E1147K|NM_133477,p.E1178K	protein_coding	uc010inc.3	nonsynonymous SNV	exon4	c.G3142A	p.E1048K	RKVLPGPPEDWNERLSYIPQTQKAY	RKVLPGPPEDWNKRLSYIPQTQKAY	4.0	6.0	unscreened	-	4253_4:119978835-119978835 G>A_RKVLPGPPEDWNKRLSYIPQTQKAY
5:55809725-55809725 C>T	1.0	4253	MELANOMA	-	-	-	1	LOC101928448	ENST00000438651,p.G78E|NM_001287053,p.G78E	protein_coding	NM_001287053	nonsynonymous SNV	exon5	c.G233A	p.G78E	KLPGDGGSVPEKGKHGILGAQGQEH	KLPGDGGSVPEKEKHGILGAQGQEH	4.0	7.0	unscreened	-	4253_5:55809725-55809725 C>T_KLPGDGGSVPEKEKHGILGAQGQEH
4:100235088-100235088 C>T	0.0	4253	MELANOMA	-	-	ID=COSM3775432;OCCURENCE=1(urinary_tract)	-	ADH1B	uc003hut.4,p.E200K|uc003hus.4,p.E240K|ENST00000305046,p.E240K|NM_001286650,p.E200K|NM_000668,p.E240K|ENST00000394887,p.E200K|uc011cei.1,p.E200K|uc011ceh.2,p.E85K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cei.1	nonsynonymous SNV	exon7	c.G598A	p.E200K	DKFAKAKELGATECINPQDYKKPIQ	DKFAKAKELGATKCINPQDYKKPIQ	3.0	5.0	unscreened	-	4253_4:100235088-100235088 C>T_DKFAKAKELGATKCINPQDYKKPIQ
4:71255498-71255498 G>A	0.0	4253	MELANOMA	-	-	ID=COSM36745;OCCURENCE=1(skin)	-	SMR3B	ENST00000504825,p.R58K|ENST00000304915,p.R58K|uc011cas.2,p.R58K|uc003hfh.3,p.R58K|NM_006685,p.R58K	retained_intron, protein_coding	uc011cas.2	nonsynonymous SNV	exon3	c.G173A	p.R58K	VPPPPPPPYGPGRIPPPPPAPYGPG	VPPPPPPPYGPGKIPPPPPAPYGPG	1.0	5.0	unscreened	-	4253_4:71255498-71255498 G>A_VPPPPPPPYGPGKIPPPPPAPYGPG
6:31084839-31084839 C>T	0.0	4253	MELANOMA	-	-	-	-	CDSN	uc003nsm.2,p.G185R|NM_001264,p.G185R|ENST00000376288,p.G185R	protein_coding	uc003nsm.2	nonsynonymous SNV	exon2	c.G553A	p.G185R	GSALPTNDNSYRGILNPSQPGQSSS	GSALPTNDNSYRRILNPSQPGQSSS	4.0	3.0	unscreened	-	4253_6:31084839-31084839 C>T_GSALPTNDNSYRRILNPSQPGQSSS
2:166852600-166852600 C>T	0.0	4253	MELANOMA	-	-	-	-	SCN1A	NM_001165964,p.E1474K|NM_001202435,p.E1502K|NM_006920,p.E1491K|ENST00000303395,p.E1502K|ENST00000409050,p.E1474K|uc021vsb.1,p.E1491K|NM_001165963,p.E1502K|uc010fpk.3,p.E1474K|uc002udo.4,p.E1502K|ENST00000423058,p.E1502K|ENST00000375405,p.E1491K	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon24	c.G4471A	p.E1491K	KKKFGGQDIFMTEEQKKYYNAMKKL	KKKFGGQDIFMTKEQKKYYNAMKKL	3.0	3.0	unscreened	-	4253_2:166852600-166852600 C>T_KKKFGGQDIFMTKEQKKYYNAMKKL
15:90274793-90274793 G>A	0.0	4253	MELANOMA	-	-	-	-	WDR93	uc010bnr.3,p.G444R|NM_001284395,p.G444R|ENST00000560294,p.G444R	protein_coding	uc010bnr.3	nonsynonymous SNV	exon12	c.G1330A	p.G444R	EDGVLTLWDLAKGQNMYPEGQVKSQ	EDGVLTLWDLAKRQNMYPEGQVKSQ	5.0	3.0	unscreened	-	4253_15:90274793-90274793 G>A_EDGVLTLWDLAKRQNMYPEGQVKSQ
2:27803407-27803407 G>A	0.0	4253	MELANOMA	-	-	-	-	C2orf16	uc002rkz.4,p.R1323K|NM_032266,p.R1323K|ENST00000408964,p.R1323K	protein_coding	uc002rkz.4	nonsynonymous SNV	exon1	c.G3968A	p.R1323K	IESPSRELAAHLRRKRIGATQTSTA	IESPSRELAAHLKRKRIGATQTSTA	3.0	7.0	unscreened	-	4253_2:27803407-27803407 G>A_IESPSRELAAHLKRKRIGATQTSTA
6:54805160-54805160 G>A	0.0	4253	MELANOMA	-	-	-	-	FAM83B	ENST00000306858,p.R464Q|NM_001010872,p.R464Q|uc003pck.4,p.R464Q	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.G1391A	p.R464Q	KTTNLADRNSNVRRSFNGTDNHIRF	KTTNLADRNSNVQRSFNGTDNHIRF	1.0	4.0	unscreened	-	4253_6:54805160-54805160 G>A_KTTNLADRNSNVQRSFNGTDNHIRF
3:161220841-161220841 G>A	0.0	4253	MELANOMA	-	-	-	-	OTOL1	uc011bpb.2,p.G182E|NM_001080440,p.G182E|ENST00000327928,p.G182E	protein_coding	uc011bpb.2	nonsynonymous SNV	exon4	c.G545A	p.G182E	GAQGEPGPKGDKGNIGLGGVKGQKG	GAQGEPGPKGDKENIGLGGVKGQKG	2.0	4.0	unscreened	-	4253_3:161220841-161220841 G>A_GAQGEPGPKGDKENIGLGGVKGQKG
20:62595508-62595508 G>A	1.0	4253	MELANOMA	-	-	-	-	ZNF512B	NM_020713,p.P466S|ENST00000369888,p.P466S|ENST00000217130,p.P466S|uc002yhl.2,p.P466S|ENST00000450537,p.P466S	protein_coding	uc002yhl.2	nonsynonymous SNV	exon8	c.C1396T	p.P466S	RVHRSKKQEGPGPEDARKKVPAAPI	RVHRSKKQEGPGSEDARKKVPAAPI	8.0	7.0	unscreened	-	4253_20:62595508-62595508 G>A_RVHRSKKQEGPGSEDARKKVPAAPI
3:108094635-108094635 G>A	0.0	4253	MELANOMA	-	-	-	-	HHLA2	NM_001282559,p.G319R|NM_007072,p.G383R|uc003dwy.4,p.G383R|NM_001282556,p.G383R|ENST00000357759,p.G383R|uc011bhl.2,p.G319R|ENST00000467761,p.G383R|uc003dwz.3,p.G383R|ENST00000467562,p.G319R|NM_001282557,p.G383R|ENST00000489514,p.G383R	protein_coding	uc011bhl.2	nonsynonymous SNV	exon9	c.G955A	p.G319R	QLEARRSRHPADGAQQERCCVPPGE	QLEARRSRHPADRAQQERCCVPPGE	2.0	3.0	unscreened	-	4253_3:108094635-108094635 G>A_QLEARRSRHPADRAQQERCCVPPGE
18:28934500-28934500 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1480286;OCCURENCE=1(breast)	-	DSG1	uc002kwp.3,p.E781K|uc010xbp.2,p.E140K|ENST00000257192,p.E781K|ENST00000462981,p.E140K|NM_001942,p.E781K	protein_coding	uc010xbp.2	nonsynonymous SNV	exon4	c.G418A	p.E140K	PDLDPSWPPQSTEPVCLPQETEPVV	PDLDPSWPPQSTKPVCLPQETEPVV	3.0	7.0	unscreened	-	4253_18:28934500-28934500 G>A_PDLDPSWPPQSTKPVCLPQETEPVV
5:143586581-143586581 G>A	0.0	4253	MELANOMA	-	-	-	-	KCTD16	ENST00000512467,p.E102K|uc003lnm.1,p.E102K|uc003lnn.1,p.E102K|ENST00000507359,p.E102K|NM_020768,p.E102K	protein_coding	uc003lnn.1	nonsynonymous SNV	exon2	c.G304A	p.E102K	RDRQVVLPDHFPEKGRLKREAEYFQ	RDRQVVLPDHFPKKGRLKREAEYFQ	3.0	7.0	unscreened	-	4253_5:143586581-143586581 G>A_RDRQVVLPDHFPKKGRLKREAEYFQ
8:16021760-16021760 C>T	0.0	4253	MELANOMA	-	-	-	-	MSR1	ENST00000519060,p.R35K	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000519060	nonsynonymous SNV	exon3	c.G104A	p.R35K	FDARSMTALLPPRNQ	FDARSMTALLPPKNQ	7.0	7.0	unscreened	-	4253_8:16021760-16021760 C>T_FDARSMTALLPPKNQ
17:10212622-10212622 C>T	0.0	4253	MELANOMA	-	-	-	-	MYH13	ENST00000252172,p.E1700K|ENST00000570743,p.E1700K|ENST00000418404,p.E1700K|NM_003802,p.E1700K|uc002gmk.1,p.E1700K	protein_coding	uc002gmk.1	nonsynonymous SNV	exon35	c.G5098A	p.E1700K	ELEEMKVALEQTERTRRLSEQELLD	ELEEMKVALEQTKRTRRLSEQELLD	1.0	7.0	unscreened	-	4253_17:10212622-10212622 C>T_ELEEMKVALEQTKRTRRLSEQELLD
5:132199847-132199847 G>A	0.0	4253	MELANOMA	-	-	ID=COSM106955;OCCURENCE=1(skin)	-	GDF9	uc031slb.1,p.P39S|uc003kxz.1,p.P127S|ENST00000378673,p.P127S|NM_001288827,p.P39S|NM_001288826,p.P39S|NM_001288828,p.P39S|NM_005260,p.P127S|ENST00000296875,p.P127S|uc011cxj.1,p.P39S|NM_001288824,p.P39S|NM_001288825,p.P39S	protein_coding, processed_transcript	uc031slb.1	nonsynonymous SNV	exon3	c.C115T	p.P39S	RLFTPCTRHKQAPGDQVTGILPSVE	RLFTPCTRHKQASGDQVTGILPSVE	5.0	6.0	unscreened	-	4253_5:132199847-132199847 G>A_RLFTPCTRHKQASGDQVTGILPSVE
16:9857935-9857935 C>T	0.0	4253	MELANOMA	-	-	-	1	GRIN2A	ENST00000404927,p.E1156K|uc002czo.4,p.E1156K|uc010uyn.2,p.E999K|ENST00000330684,p.E1156K|ENST00000562109,p.E1156K|ENST00000396575,p.E1156K|NM_000833,p.E1156K|ENST00000535259,p.E999K|NM_001134407,p.E1156K|uc010uym.2,p.E1156K|uc002czr.4,p.E1156K|ENST00000396573,p.E1156K|NM_001134408,p.E1156K	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon12	c.G2995A	p.E999K	NVDFPDPYQDPSENFRKGDSTLPMN	NVDFPDPYQDPSKNFRKGDSTLPMN	6.0	6.0	unscreened	-	4253_16:9857935-9857935 C>T_NVDFPDPYQDPSKNFRKGDSTLPMN
1:54360149-54360149 G>A	0.0	4253	MELANOMA	-	-	-	-	DIO1	uc009vzl.3,p.G89E|ENST00000388876,p.G89E|NM_001039715,p.G89E|ENST00000528946,p.G89E|uc001cwb.3,p.G89E|ENST00000532493,p.G89E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vzl.3	nonsynonymous SNV	exon1	c.G266A	p.G89E	VRWQRLEDTTELGGLAPNCPVVRLS	VRWQRLEDTTELEGLAPNCPVVRLS	2.0	6.0	unscreened	-	4253_1:54360149-54360149 G>A_VRWQRLEDTTELEGLAPNCPVVRLS
11:63078495-63078495 G>A	0.0	4253	MELANOMA	-	-	-	-	SLC22A10	ENST00000332793,p.E539K|NM_001039752,p.E539K|uc009yor.3,p.E539K	protein_coding, processed_transcript, nonsense_mediated_decay	uc009yor.3	nonsynonymous SNV	exon10	c.G1615A	p.E539K	IKDVENQKKNLKEKA	IKDVENQKKNLKKKA	5.0	9.0	unscreened	-	4253_11:63078495-63078495 G>A_IKDVENQKKNLKKKA
17:42336907-42336907 C>T	0.0	4253	MELANOMA	-	-	-	-	SLC4A1	uc021tyc.1,p.E218K|uc002igf.4,p.E218K|ENST00000262418,p.E218K|NM_000342,p.E218K	retained_intron, protein_coding, processed_transcript	uc021tyc.1	nonsynonymous SNV	exon7	c.G652A	p.E218K	GGTEGHSPSGILEKIPPDSEATLVL	GGTEGHSPSGILKKIPPDSEATLVL	1.0	6.0	unscreened	-	4253_17:42336907-42336907 C>T_GGTEGHSPSGILKKIPPDSEATLVL
3:161220867-161220867 G>A	0.0	4253	MELANOMA	-	-	-	-	OTOL1	NM_001080440,p.G191R|ENST00000327928,p.G191R|uc011bpb.2,p.G191R	protein_coding	uc011bpb.2	nonsynonymous SNV	exon4	c.G571A	p.G191R	GDKGNIGLGGVKGQKGSKGDTCGNC	GDKGNIGLGGVKRQKGSKGDTCGNC	2.0	7.0	unscreened	-	4253_3:161220867-161220867 G>A_GDKGNIGLGGVKRQKGSKGDTCGNC
8:55540918-55540918 A>C	0.0	4253	MELANOMA	-	-	-	-	RP1	ENST00000220676,p.E1492D|NM_006269,p.E1492D|uc003xsd.1,p.E1492D	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.A4476C	p.E1492D	NTVVNGGEQATEELIQEEVEASKTL	NTVVNGGEQATEDLIQEEVEASKTL	1.0	7.0	unscreened	-	4253_8:55540918-55540918 A>C_NTVVNGGEQATEDLIQEEVEASKTL
21:31973449-31973449 G>A	0.0	4253	MELANOMA	-	-	-	-	KRTAP22-1	uc011add.2,p.D4N|ENST00000334680,p.D4N|NM_181620,p.D4N	protein_coding	uc011add.2	nonsynonymous SNV	exon1	c.G10A	p.D4N	MSFDNNYHGGQGYAKG	MSFNNNYHGGQGYAKG	1.0	7.0	unscreened	-	4253_21:31973449-31973449 G>A_MSFNNNYHGGQGYAKG
5:74096850-74096850 C>T	0.0	4253	MELANOMA	-	-	-	-	FAM169A	uc003kdm.4,p.D320N|ENST00000389156,p.D320N|uc010izm.3,p.D260N|uc003kdl.4,p.D138N|ENST00000510496,p.D260N|NM_015566,p.D320N	protein_coding, nonsense_mediated_decay	uc010izm.3	nonsynonymous SNV	exon10	c.G778A	p.D260N	LKDAFASTSEGHDKTSVSTHTRSGN	LKDAFASTSEGHNKTSVSTHTRSGN	5.0	5.0	unscreened	-	4253_5:74096850-74096850 C>T_LKDAFASTSEGHNKTSVSTHTRSGN
1:181765831-181765831 G>A	0.0	4253	MELANOMA	-	-	-	-	CACNA1E	ENST00000357570,p.G2030E|NM_001205293,p.G2079E|ENST00000526775,p.G2017E|ENST00000367567,p.G1643E|ENST00000367570,p.G2036E|NM_000721,p.G2036E|ENST00000367573,p.G2079E|uc009wxs.3,p.G2017E|ENST00000360108,p.G2060E|ENST00000358338,p.G1968E|uc009wxt.3,p.G2079E|uc001gow.3,p.G2036E|NM_001205294,p.G2017E	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon47	c.G6236A	p.G2079E	SDSGHKSDTHRSGGRERGRSKERKH	SDSGHKSDTHRSEGRERGRSKERKH	1.0	3.0	unscreened	-	4253_1:181765831-181765831 G>A_SDSGHKSDTHRSEGRERGRSKERKH
11:124189174-124189174 C>T	0.0	4253	MELANOMA	-	-	-	-	OR8D2	NM_001002918,p.G307E|uc010sah.2,p.G307E|ENST00000357438,p.G307E	protein_coding	uc010sah.2	nonsynonymous SNV	exon1	c.G920A	p.G307E	KDVKNALKKMTRGRQSS	KDVKNALKKMTRERQSS	1.0	8.0	unscreened	-	4253_11:124189174-124189174 C>T_KDVKNALKKMTRERQSS
4:69528857-69528857 C>T	0.0	4253	MELANOMA	-	-	-	-	UGT2B15	ENST00000338206,p.E292K|uc021xow.1,p.E292K|NM_001076,p.E292K	protein_coding	uc021xow.1	nonsynonymous SNV	exon3	c.G874A	p.E292K	GLHCKPAKPLPKEMEEFVQSSGENG	GLHCKPAKPLPKKMEEFVQSSGENG	1.0	7.0	unscreened	-	4253_4:69528857-69528857 C>T_GLHCKPAKPLPKKMEEFVQSSGENG
17:59465991-59465991 G>A	1.0	4253	MELANOMA	-	-	-	-	BCAS3	uc002iyw.4,p.G887E|ENST00000589222,p.G891E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002iyw.4	nonsynonymous SNV	exon25	c.G2660A	p.G887E	RHVAVKCFGKKKGKKKQCQQPSVRE	RHVAVKCFGKKKEKKKQCQQPSVRE	8.0	3.0	unscreened	-	4253_17:59465991-59465991 G>A_RHVAVKCFGKKKEKKKQCQQPSVRE
5:825296-825296 C>T	0.0	4253	MELANOMA	-	-	-	-	ZDHHC11	ENST00000507800,p.G197R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000507800	nonsynonymous SNV	exon6	c.G589A	p.G197R	HLCHFCTSVNQDGDSTARGHLTTLP	HLCHFCTSVNQDRDSTARGHLTTLP	6.0	6.0	unscreened	-	4253_5:825296-825296 C>T_HLCHFCTSVNQDRDSTARGHLTTLP
11:63078495-63078495 G>A	0.0	4253	MELANOMA	-	-	-	-	SLC22A10	ENST00000526800,p.E203K	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000526800	nonsynonymous SNV	exon5	c.G607A	p.E203K	CILVFLRKKNLKEKA	CILVFLRKKNLKKKA	5.0	9.0	unscreened	-	4253_11:63078495-63078495 G>A_CILVFLRKKNLKKKA
13:25745357-25745357 C>T	0.0	4253	MELANOMA	-	-	-	-	AMER2	NM_152704,p.G134E|ENST00000381853,p.G134E|uc001uqa.3,p.G134E|uc001uqb.3,p.G134E|ENST00000515384,p.G134E|ENST00000357816,p.G134E|uc001uqc.3,p.G134E|NM_199138,p.G134E	protein_coding	uc001uqc.3	nonsynonymous SNV	exon2	c.G401A	p.G134E	EPRGGGDSGGGGGGRPNPGPPRAAG	EPRGGGDSGGGGEGRPNPGPPRAAG	1.0	7.0	unscreened	-	4253_13:25745357-25745357 C>T_EPRGGGDSGGGGEGRPNPGPPRAAG
20:57466824-57466824 G>A	1.0	4253	MELANOMA	-	-	-	1	GNAS	uc021wfo.1,p.E15K|ENST00000371095,p.E15K|ENST00000306090,p.E15K|NM_001077488,p.E15K|NM_001077489,p.E15K|uc021wfn.1,p.E15K|uc002yaa.3,p.E15K|ENST00000371085,p.E15K|ENST00000354359,p.E15K|ENST00000265620,p.E15K|NM_080426,p.E15K|ENST00000371081,p.E15K|NM_000516,p.E15K|uc021wfp.1,p.E15K	retained_intron, protein_coding, processed_transcript	uc021wfp.1	nonsynonymous SNV	exon1	c.G43A	p.E15K	CLGNSKTEDQRNEEKAQREANKKIE	CLGNSKTEDQRNKEKAQREANKKIE	10.0	6.0	unscreened	-	4253_20:57466824-57466824 G>A_CLGNSKTEDQRNKEKAQREANKKIE
16:12996124-12996124 C>G	0.0	4253	MELANOMA	-	-	-	-	SHISA9	uc002dcd.2,p.A68G|ENST00000424107,p.A68G|ENST00000423335,p.A68G|NM_001145204,p.A68G|NM_001145205,p.A68G|uc010uyy.2,p.A68G|ENST00000558583,p.A109G|ENST00000558318,p.A109G	protein_coding, processed_transcript	uc010uyy.2	nonsynonymous SNV	exon1	c.C203G	p.A68G	EGAEASDAPPTRAPTPDFCRGYFDV	EGAEASDAPPTRGPTPDFCRGYFDV	5.0	4.0	unscreened	-	4253_16:12996124-12996124 C>G_EGAEASDAPPTRGPTPDFCRGYFDV
5:121786790-121786790 C>T	1.0	4253	MELANOMA	-	-	-	-	SNCAIP	uc010jcu.2,p.P346S|uc011cwl.1,p.P308S|uc003ksw.1,p.P750S|ENST00000261367,p.P797S|ENST00000379533,p.P797S|NM_001242935,p.P384S|uc003ktc.1,p.P266S|ENST00000509154,p.P690S|uc003ksz.1,p.P384S|uc003kta.1,p.P382S|ENST00000542191,p.P308S|NM_005460,p.P750S|ENST00000379536,p.P690S|uc011cwm.1,p.P384S|uc010jcw.1,p.P444S|uc003ksy.1,p.P384S|uc003ksx.1,p.P797S|uc010jcx.1,p.P690S|ENST00000414317,p.P352S|ENST00000261368,p.P750S|ENST00000379538,p.P384S	retained_intron, protein_coding, nonsense_mediated_decay	uc011cwm.1	nonsynonymous SNV	exon8	c.C1150T	p.P384S	KASKSLDGHSPSPTSESSEPDLESQ	KASKSLDGHSPSSTSESSEPDLESQ	5.0	7.0	unscreened	-	4253_5:121786790-121786790 C>T_KASKSLDGHSPSSTSESSEPDLESQ
17:51902277-51902277 G>A	0.0	4253	MELANOMA	-	-	-	-	KIF2B	NM_032559,p.G628D|uc002iua.2,p.G628D|ENST00000268919,p.G628D	protein_coding	uc002iua.2	nonsynonymous SNV	exon1	c.G1883A	p.G628D	SSQWLENIQERAGGVHHDIDFCIAR	SSQWLENIQERADGVHHDIDFCIAR	1.0	6.0	unscreened	-	4253_17:51902277-51902277 G>A_SSQWLENIQERADGVHHDIDFCIAR
7:6006567-6006567 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1643363;OCCURENCE=1(stomach)	-	RSPH10B,RSPH10B2	NM_001099697,p.R61C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_001099697	nonsynonymous SNV	exon3	c.C181T	p.R61C	GMQLNEVKPKKDRQNVQQNEDASQY	GMQLNEVKPKKDCQNVQQNEDASQY	4.0	4.0	unscreened	-	4253_7:6006567-6006567 G>A_GMQLNEVKPKKDCQNVQQNEDASQY
7:6006567-6006567 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1643363;OCCURENCE=1(stomach)	-	RSPH10B,RSPH10B2	ENST00000337579,p.R61C|ENST00000404406,p.R61C|uc010ktd.1,p.R61C|NM_173565,p.R61C|uc003sph.1,p.R61C|ENST00000441023,p.R61C|ENST00000405415,p.R61C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ktd.1	nonsynonymous SNV	exon2	c.C181T	p.R61C	GMQLNEVKPKKDRQNVQQNEDATQY	GMQLNEVKPKKDCQNVQQNEDATQY	4.0	4.0	unscreened	-	4253_7:6006567-6006567 G>A_GMQLNEVKPKKDCQNVQQNEDATQY
15:38228527-38228527 G>A	0.0	4253	MELANOMA	-	-	-	-	TMCO5A	ENST00000319669,p.M1I|uc010bbc.1,p.M1I|ENST00000558158,p.M1I|ENST00000558148,p.M1I|uc001zjv.1,p.M1I|ENST00000560653,p.M1I|uc001zjw.3,p.M1I|ENST00000560841,p.M1I|ENST00000559502,p.M1I|ENST00000540944,p.M1I|ENST00000558625,p.M1I|NM_152453,p.M1I	retained_intron, protein_coding, nonsense_mediated_decay	uc010bbc.1	nonsynonymous SNV	exon2	c.G3A	p.M1I	MEISRLAQSKRNI	IEISRLAQSKRNI	1.0	7.0	unscreened	-	4253_15:38228527-38228527 G>A_IEISRLAQSKRNI
1:26751942-26751942 G>A	0.0	4253	MELANOMA	-	-	ID=COSM1687256;OCCURENCE=1(skin)	-	LIN28A	NM_024674,p.G126E|ENST00000254231,p.G126E|ENST00000326279,p.G126E|uc001bmj.3,p.G126E	protein_coding	uc001bmj.3	nonsynonymous SNV	exon3	c.G377A	p.G126E	GVFCIGSERRPKGKSMQKRRSKGDR	GVFCIGSERRPKEKSMQKRRSKGDR	2.0	3.0	unscreened	-	4253_1:26751942-26751942 G>A_GVFCIGSERRPKEKSMQKRRSKGDR
2:1946871-1946871 C>T	0.0	4253	MELANOMA	-	-	-	-	MYT1L	uc002qxe.3,p.E130K|ENST00000399161,p.E130K|NM_015025,p.E130K|ENST00000428368,p.E130K|uc002qxd.3,p.E130K	retained_intron, protein_coding, processed_transcript	uc002qxe.3	nonsynonymous SNV	exon9	c.G388A	p.E130K	GDEDEEDEEGDREEEEEIEEEDEDD	GDEDEEDEEGDRKEEEEIEEEDEDD	2.0	7.0	unscreened	-	4253_2:1946871-1946871 C>T_GDEDEEDEEGDRKEEEEIEEEDEDD
7:331299-331299 C>T	0.0	4253	MELANOMA	-	-	-	-	WI2-2373I1.2	uc021zyg.1,p.P183S|NM_001195127,p.P183S	-	uc021zyg.1	nonsynonymous SNV	exon3	c.C547T	p.P183S	GAPGREPPASPAPPGKEHPRDLKFS	GAPGREPPASPASPGKEHPRDLKFS	1.0	6.0	unscreened	-	4253_7:331299-331299 C>T_GAPGREPPASPASPGKEHPRDLKFS
16:77398203-77398203 G>A	0.0	4253	MELANOMA	-	-	-	-	ADAMTS18	NM_199355,p.S285L|ENST00000282849,p.S285L|uc002ffc.4,p.S285L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ffc.4	nonsynonymous SNV	exon5	c.C854T	p.S285L	FDEYGSSGRPRRSAGKSQKGLNVET	FDEYGSSGRPRRLAGKSQKGLNVET	1.0	6.0	unscreened	-	4253_16:77398203-77398203 G>A_FDEYGSSGRPRRLAGKSQKGLNVET
7:123296267-123296267 G>A	0.0	4253	MELANOMA	-	-	-	-	LMOD2	NM_207163,p.E84K|uc003vky.2,p.E84K|ENST00000458573,p.E84K	protein_coding	uc003vky.2	nonsynonymous SNV	exon1	c.G250A	p.E84K	YWEKESQKLLEKERLGECGKVAEDK	YWEKESQKLLEKKRLGECGKVAEDK	1.0	4.0	unscreened	-	4253_7:123296267-123296267 G>A_YWEKESQKLLEKKRLGECGKVAEDK
5:129037265-129037265 G>A	0.0	4253	MELANOMA	-	-	-	-	ADAMTS19	uc003kvb.1,p.E1041K|NM_133638,p.E1041K|ENST00000274487,p.E1041K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kvb.1	nonsynonymous SNV	exon20	c.G3121A	p.E1041K	QRCEGQDCMTVWEAGVWSECSVKCG	QRCEGQDCMTVWKAGVWSECSVKCG	1.0	6.0	unscreened	-	4253_5:129037265-129037265 G>A_QRCEGQDCMTVWKAGVWSECSVKCG
5:154397107-154397107 G>A	0.0	4253	MELANOMA	-	-	-	-	KIF4B	ENST00000435029,p.E1230K|uc010jih.1,p.E1230K|NM_001099293,p.E1230K	protein_coding	uc010jih.1	nonsynonymous SNV	exon1	c.G3688A	p.E1230K	SNTSFFSGCSPIEEEAH	SNTSFFSGCSPIKEEAH	2.0	7.0	unscreened	-	4253_5:154397107-154397107 G>A_SNTSFFSGCSPIKEEAH
8:93017381-93017381 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1102436,COSM1102437,COSM1102438;OCCURENCE=1(endometrium),1(skin)	1	RUNX1T1	NM_175635,p.D198N|NM_175634,p.D235N|NM_001198631,p.D235N|ENST00000422361,p.D198N|uc010mam.3,p.D208N|NM_001198632,p.D208N|uc003yfb.2,p.D198N|NM_001198625,p.D208N|uc010mao.3,p.D208N|NM_004349,p.D208N|NM_001198628,p.D235N|ENST00000523629,p.D235N|ENST00000521553,p.D198N|ENST00000396218,p.D208N|NM_001198629,p.D235N|NM_175636,p.D198N|NM_001198633,p.D215N|ENST00000436581,p.D246N|ENST00000265814,p.D235N|uc003yfd.3,p.D235N|uc022axr.1,p.D235N|NM_001198679,p.D294N|uc022axs.1,p.D294N|NM_001198634,p.D246N|ENST00000360348,p.D198N|uc022axu.1,p.D215N|uc022axp.1,p.D235N|uc022axq.1,p.D235N|ENST00000518844,p.D208N|uc011lgi.2,p.D246N|uc003yff.1,p.D198N|uc022axo.1,p.D235N|uc022axv.1,p.D235N|uc003yfc.2,p.D208N|uc022axt.1,p.D235N|NM_001198626,p.D235N|uc003yfe.2,p.D198N|NM_001198627,p.D235N|ENST00000520724,p.D198N|NM_001198630,p.D235N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022axv.1	nonsynonymous SNV	exon6	c.G703A	p.D235N	TTSPVDSSELLLDVNENGKRRTPDR	TTSPVDSSELLLNVNENGKRRTPDR	7.0	5.0	unscreened	-	4253_8:93017381-93017381 C>T_TTSPVDSSELLLNVNENGKRRTPDR
8:27326896-27326896 C>T	0.0	4253	MELANOMA	-	-	-	-	CHRNA2	uc011lal.2,p.D84N|NM_001282455,p.D84N|ENST00000240132,p.D84N	retained_intron, protein_coding, nonsense_mediated_decay	uc011lal.2	nonsynonymous SNV	exon4	c.G250A	p.D84N	RWARPVPNTSDVDEKNQMMTTNVWL	RWARPVPNTSDVNEKNQMMTTNVWL	1.0	6.0	unscreened	-	4253_8:27326896-27326896 C>T_RWARPVPNTSDVNEKNQMMTTNVWL
5:156590315-156590315 G>A	0.0	4253	MELANOMA	-	-	-	-	FAM71B	ENST00000302938,p.P321S|uc003lwn.3,p.P321S|NM_130899,p.P321S	protein_coding	uc003lwn.3	nonsynonymous SNV	exon2	c.C961T	p.P321S	VTTALAGAAIKNPGENESSKSMAGA	VTTALAGAAIKNSGENESSKSMAGA	1.0	7.0	unscreened	-	4253_5:156590315-156590315 G>A_VTTALAGAAIKNSGENESSKSMAGA
21:39087396-39087396 C>T	0.0	4253	MELANOMA	0.0005	-	-	-	KCNJ6	uc011aej.2,p.E22K|ENST00000400482,p.E22K|ENST00000288309,p.E22K|uc002ywo.3,p.E22K|NM_002240,p.E22K	protein_coding	uc011aej.2	nonsynonymous SNV	exon3	c.G64A	p.E22K	NVLEGDSMDQDVESPVAIHQPKLPK	NVLEGDSMDQDVKSPVAIHQPKLPK	4.0	4.0	unscreened	-	4253_21:39087396-39087396 C>T_NVLEGDSMDQDVKSPVAIHQPKLPK
4:162307093-162307093 C>T	0.0	4253	MELANOMA	-	-	-	-	FSTL5	NM_001128427,p.E783K|ENST00000427802,p.E774K|ENST00000379164,p.E783K|ENST00000306100,p.E784K|ENST00000536695,p.E783K|NM_001128428,p.E774K|NM_020116,p.E784K|uc010iqv.4,p.E774K|uc003iqi.4,p.E783K|uc003iqh.4,p.E784K	protein_coding, processed_transcript	uc010iqv.4	nonsynonymous SNV	exon15	c.G2320A	p.E774K	SSGKVKMIKSLKEPLKAEEWPWNRK	SSGKVKMIKSLKKPLKAEEWPWNRK	2.0	6.0	unscreened	-	4253_4:162307093-162307093 C>T_SSGKVKMIKSLKKPLKAEEWPWNRK
7:103280997-103280997 C>T	0.0	4253	MELANOMA	-	-	-	-	RELN	ENST00000343529,p.G688S|ENST00000424685,p.G688S|uc022ajq.1,p.G688S|uc022ajr.1,p.G688S|NM_173054,p.G688S|ENST00000428762,p.G688S|NM_005045,p.G688S|uc010liz.3,p.G688S	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon17	c.G2062A	p.G688S	KFCSGRGQCTRHGCKCDPGFSGPAC	KFCSGRGQCTRHSCKCDPGFSGPAC	5.0	4.0	unscreened	-	4253_7:103280997-103280997 C>T_KFCSGRGQCTRHSCKCDPGFSGPAC
20:10030094-10030094 G>A	0.0	4253	MELANOMA	-	-	-	-	ANKEF1	uc002wnp.3,p.E293K|uc010gbz.3,p.E104K|ENST00000378392,p.E293K|uc002wno.3,p.E293K|NM_022096,p.E293K|ENST00000378380,p.E293K|NM_198798,p.E293K	protein_coding, processed_transcript	uc010gbz.3	nonsynonymous SNV	exon7	c.G310A	p.E104K	NLDHKTPRAVAKEGGFKAASKEIRR	NLDHKTPRAVAKKGGFKAASKEIRR	5.0	5.0	unscreened	-	4253_20:10030094-10030094 G>A_NLDHKTPRAVAKKGGFKAASKEIRR
5:158750104-158750104 C>T	0.0	4253	MELANOMA	-	-	-	-	IL12B	uc003lxr.1,p.E108K|NM_002187,p.E108K|ENST00000231228,p.E108K	protein_coding	uc003lxr.1	nonsynonymous SNV	exon3	c.G322A	p.E108K	VLSHSLLLLHKKEDGIWSTDILKDQ	VLSHSLLLLHKKKDGIWSTDILKDQ	2.0	6.0	unscreened	-	4253_5:158750104-158750104 C>T_VLSHSLLLLHKKKDGIWSTDILKDQ
18:55143701-55143701 G>A	0.0	4253	MELANOMA	-	-	-	-	ONECUT2	ENST00000491143,p.D421N|NM_004852,p.D421N|uc002lgo.3,p.D421N	protein_coding	uc002lgo.3	nonsynonymous SNV	exon2	c.G1261A	p.D421N	AACKRKEQEPNKDRNNSQKKSRLVF	AACKRKEQEPNKNRNNSQKKSRLVF	4.0	3.0	unscreened	-	4253_18:55143701-55143701 G>A_AACKRKEQEPNKNRNNSQKKSRLVF
8:27326896-27326896 C>T	0.0	4253	MELANOMA	-	-	-	-	CHRNA2	ENST00000407991,p.D99N|uc010lur.3,p.D99N|NM_000742,p.D99N|ENST00000523695,p.D99N|ENST00000520933,p.D99N	retained_intron, protein_coding, nonsense_mediated_decay	uc010lur.3	nonsynonymous SNV	exon4	c.G295A	p.D99N	RFGLSIAQLIDVDEKNQMMTTNVWL	RFGLSIAQLIDVNEKNQMMTTNVWL	1.0	6.0	unscreened	-	4253_8:27326896-27326896 C>T_RFGLSIAQLIDVNEKNQMMTTNVWL
5:139739891-139739891 G>A	0.0	4253	MELANOMA	-	-	-	-	SLC4A9	ENST00000506757,p.E24K|uc003lfj.2,p.E24K|uc003lfl.2,p.E24K|uc011czg.2,p.E24K|NM_001258428,p.E24K|ENST00000506545,p.E24K|NM_031467,p.E24K|ENST00000230993,p.E24K|NM_001258426,p.E24K|uc003lfk.2,p.E24K|uc003lfm.3,p.E24K|NM_001258427,p.E24K|ENST00000507527,p.E24K|ENST00000432095,p.E24K	retained_intron, protein_coding	uc011czg.2	nonsynonymous SNV	exon1	c.G70A	p.E24K	EASSAPRNIPSGELDSNPDPGTGPS	EASSAPRNIPSGKLDSNPDPGTGPS	3.0	6.0	unscreened	-	4253_5:139739891-139739891 G>A_EASSAPRNIPSGKLDSNPDPGTGPS
6:32334079-32334079 C>T	0.0	4253	MELANOMA	-	-	-	-	C6orf10	ENST00000532023,p.G67E	protein_coding	ENST00000532023	nonsynonymous SNV	exon6	c.G200A	p.G67E	RDFSSQRSKRGRGSRHAYSTQSERS	RDFSSQRSKRGRESRHAYSTQSERS	2.0	5.0	unscreened	-	4253_6:32334079-32334079 C>T_RDFSSQRSKRGRESRHAYSTQSERS
5:16478196-16478196 C>T	1.0	4253	MELANOMA	-	-	-	-	FAM134B	uc003jfr.3,p.E133K|NM_001034850,p.E274K|NM_019000,p.E133K|ENST00000306320,p.E274K|ENST00000399793,p.E133K|uc003jfs.3,p.E274K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jfs.3	nonsynonymous SNV	exon7	c.G820A	p.E274K	NQKKRERSEADKEKSHKDDSELDFS	NQKKRERSEADKKKSHKDDSELDFS	9.0	5.0	unscreened	-	4253_5:16478196-16478196 C>T_NQKKRERSEADKKKSHKDDSELDFS
12:126138492-126138492 G>A	0.0	4253	MELANOMA	-	-	-	-	TMEM132B	ENST00000299308,p.E825K|ENST00000535886,p.E337K|uc001uhf.1,p.E337K|uc001uhe.1,p.E825K|NM_052907,p.E825K|NM_001286219,p.E337K	retained_intron, protein_coding, processed_transcript	uc001uhf.1	nonsynonymous SNV	exon5	c.G1009A	p.E337K	HLSNSIEREGNQERAVQEWFHRGTP	HLSNSIEREGNQKRAVQEWFHRGTP	3.0	6.0	unscreened	-	4253_12:126138492-126138492 G>A_HLSNSIEREGNQKRAVQEWFHRGTP
12:128899900-128899900 G>A	0.0	4253	MELANOMA	-	-	-	-	TMEM132C	uc021rgn.1,p.E237K|NM_001136103,p.E237K|ENST00000435159,p.E237K	protein_coding	uc021rgn.1	nonsynonymous SNV	exon2	c.G709A	p.E237K	PVELYYTVHPGNERGDCAGGDFRKG	PVELYYTVHPGNKRGDCAGGDFRKG	1.0	6.0	unscreened	-	4253_12:128899900-128899900 G>A_PVELYYTVHPGNKRGDCAGGDFRKG
4:162463822-162463822 G>A	0.0	4253	MELANOMA	-	-	-	-	FSTL5	uc010iqv.4,p.P346S|uc003iqi.4,p.P346S|NM_020116,p.P347S|ENST00000536695,p.P346S|ENST00000427802,p.P346S|NM_001128428,p.P346S|ENST00000306100,p.P347S|uc003iqh.4,p.P347S|NM_001128427,p.P346S|ENST00000379164,p.P346S	protein_coding, processed_transcript	uc010iqv.4	nonsynonymous SNV	exon9	c.C1036T	p.P346S	FQVNVPPVIRVYPESQAREPGVTAS	FQVNVPPVIRVYSESQAREPGVTAS	2.0	5.0	unscreened	-	4253_4:162463822-162463822 G>A_FQVNVPPVIRVYSESQAREPGVTAS
5:13766162-13766162 C>T	0.0	4253	MELANOMA	-	-	-	-	DNAH5	ENST00000265104,p.E3342K|NM_001369,p.E3342K|uc003jfd.2,p.E3342K	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon59	c.G10024A	p.E3342K	FQRKVSAVKIDLEKSCTMPSWQESL	FQRKVSAVKIDLKKSCTMPSWQESL	3.0	7.0	unscreened	-	4253_5:13766162-13766162 C>T_FQRKVSAVKIDLKKSCTMPSWQESL
5:54429297-54429297 C>T	0.0	4253	MELANOMA	-	-	-	-	CDC20B	uc010ivv.2,p.D214N|ENST00000322374,p.D214N|uc010ivu.2,p.D214N|uc003jpn.2,p.D214N|NM_152623,p.D214N|NM_001170402,p.D214N|NM_001145734,p.D214N|ENST00000513180,p.D214N|ENST00000381375,p.D214N|ENST00000296733,p.D214N|ENST00000334206,p.D214N|uc003jpo.2,p.D214N	protein_coding, nonsense_mediated_decay	uc010ivv.2	nonsynonymous SNV	exon6	c.G640A	p.D214N	ESFHLKSSGDINDSILQPEVKIHIT	ESFHLKSSGDINNSILQPEVKIHIT	2.0	5.0	unscreened	-	4253_5:54429297-54429297 C>T_ESFHLKSSGDINNSILQPEVKIHIT
12:123200180-123200180 C>T	0.0	4253	MELANOMA	-	-	-	-	HCAR3	uc001ucy.4,p.G369R|NM_006018,p.G369R|ENST00000528880,p.G369R	protein_coding	uc001ucy.4	nonsynonymous SNV	exon1	c.G1105A	p.G369R	YLGPTSNNHSKKGHCHQEPASLEKQ	YLGPTSNNHSKKRHCHQEPASLEKQ	3.0	6.0	unscreened	-	4253_12:123200180-123200180 C>T_YLGPTSNNHSKKRHCHQEPASLEKQ
4:88732680-88732680 G>A	1.0	4253	MELANOMA	-	-	-	-	IBSP	NM_004967,p.G191D|uc003hqx.4,p.G191D|ENST00000226284,p.G191D	protein_coding	uc003hqx.4	nonsynonymous SNV	exon7	c.G572A	p.G191D	TSTNSTEAENGNGSSGGDNGEEGEE	TSTNSTEAENGNDSSGGDNGEEGEE	3.0	7.0	unscreened	-	4253_4:88732680-88732680 G>A_TSTNSTEAENGNDSSGGDNGEEGEE
4:175898183-175898183 G>A	0.0	4253	MELANOMA	-	-	ID=COSM142149;OCCURENCE=1(skin)	-	ADAM29	uc031shv.1,p.E503K|NM_001130703,p.E503K|uc003iuc.3,p.E503K|NM_001278127,p.E503K|ENST00000445694,p.E503K|NM_001130704,p.E503K|ENST00000404450,p.E503K|uc010irr.3,p.E503K|uc003iud.3,p.E503K|ENST00000359240,p.E503K|uc011cki.2,p.E503K|NM_001278125,p.E503K|NM_001278126,p.E503K|uc031shu.1,p.E503K|uc031shw.1,p.E503K|NM_014269,p.E503K|NM_001130705,p.E503K|uc021xuo.1,p.E503K|ENST00000514159,p.E503K	retained_intron, protein_coding, processed_transcript	uc031shw.1	nonsynonymous SNV	exon2	c.G1507A	p.E503K	GYCYEKSCHDRNEQCRRIFGAGANT	GYCYEKSCHDRNKQCRRIFGAGANT	1.0	6.0	unscreened	-	4253_4:175898183-175898183 G>A_GYCYEKSCHDRNKQCRRIFGAGANT
17:10212982-10212982 C>T	0.0	4253	MELANOMA	-	-	-	-	MYH13	ENST00000570743,p.E1608K|NM_003802,p.E1608K|uc002gmk.1,p.E1608K|ENST00000418404,p.E1608K|ENST00000252172,p.E1608K	protein_coding	uc002gmk.1	nonsynonymous SNV	exon34	c.G4822A	p.E1608K	RAAEALQSVLDAEIRSRNDALRLKK	RAAEALQSVLDAKIRSRNDALRLKK	1.0	5.0	unscreened	-	4253_17:10212982-10212982 C>T_RAAEALQSVLDAKIRSRNDALRLKK
5:140774836-140774836 C>T	0.0	4253	MELANOMA	-	-	-	-	PCDHGA8	uc003lkb.4,p.S819F|NM_014004,p.S819F	protein_coding	uc003lkb.4	nonsynonymous SNV	exon1	c.C2456T	p.S819F	GQVSLVLCLLLISR	GQVSLVLCLLLIFR	7.0	5.0	unscreened	-	4253_5:140774836-140774836 C>T_GQVSLVLCLLLIFR
20:1963624-1963624 C>T	0.0	4253	MELANOMA	-	-	-	-	PDYN	uc002wfv.3,p.G36D|NM_024411,p.G36D|uc021vzt.1,p.G36D|ENST00000540134,p.G36D|ENST00000217305,p.G36D|uc021vzs.1,p.G36D|NM_001190898,p.G36D|NM_001190900,p.G36D|ENST00000539905,p.G36D|uc021vzu.1,p.G36D|uc010gaj.3,p.G36D|NM_001190899,p.G36D|NM_001190892,p.G36D	protein_coding	uc021vzu.1	nonsynonymous SNV	exon2	c.G107A	p.G36D	SRCSLCAVKTQDGPKPINPLICSLQ	SRCSLCAVKTQDDPKPINPLICSLQ	1.0	6.0	unscreened	-	4253_20:1963624-1963624 C>T_SRCSLCAVKTQDDPKPINPLICSLQ
4:100212058-100212058 C>T	0.0	4253	MELANOMA	-	-	-	-	ADH1A	uc003hur.2,p.G5E|ENST00000209668,p.G5E|uc010ilg.2,p.G5E|NM_000667,p.G5E	retained_intron, protein_coding, processed_transcript	uc010ilg.2	nonsynonymous SNV	exon1	c.G14A	p.G5E	MSTAGKVIKCKAAVLWE	MSTAEKVIKCKAAVLWE	1.0	5.0	unscreened	-	4253_4:100212058-100212058 C>T_MSTAEKVIKCKAAVLWE
7:75890884-75890884 G>A	0.0	4253	MELANOMA	-	-	-	-	SRRM3	ENST00000388802,p.R220K|NM_001291831,p.R220K|ENST00000326382,p.R220K|uc010ldi.2,p.R220K	retained_intron, protein_coding, processed_transcript	uc010ldi.2	nonsynonymous SNV	exon8	c.G659A	p.R220K	KHRRDRSDSGSRRKRRHRSRSSKCK	KHRRDRSDSGSRKKRRHRSRSSKCK	6.0	6.0	unscreened	-	4253_7:75890884-75890884 G>A_KHRRDRSDSGSRKKRRHRSRSSKCK
17:6387541-6387541 T>C	0.0	4253	MELANOMA	-	-	-	-	PITPNM3	uc010cln.3,p.S80G|NM_031220,p.S116G|NM_001165966,p.S80G|ENST00000262483,p.S116G|uc002gdd.4,p.S116G|ENST00000421306,p.S80G	retained_intron, protein_coding, processed_transcript	uc010cln.3	nonsynonymous SNV	exon4	c.A238G	p.S80G	FPAQGSIEIHEDSEEGCPQRSCKTH	FPAQGSIEIHEDGEEGCPQRSCKTH	4.0	6.0	unscreened	-	4253_17:6387541-6387541 T>C_FPAQGSIEIHEDGEEGCPQRSCKTH
8:57354379-57354379 C>T	1.0	4253	MELANOMA	-	-	-	-	PENK	ENST00000451791,p.E86K|ENST00000518974,p.E86K|ENST00000314922,p.E86K|uc003xta.3,p.E86K|uc003xsz.2,p.E86K|NM_001135690,p.E86K|NM_006211,p.E86K	retained_intron, protein_coding, processed_transcript	uc003xta.3	nonsynonymous SNV	exon4	c.G256A	p.E86K	PELPQDGTSTLRENSKPEESHLLAK	PELPQDGTSTLRKNSKPEESHLLAK	7.0	5.0	unscreened	-	4253_8:57354379-57354379 C>T_PELPQDGTSTLRKNSKPEESHLLAK
1:26670946-26670946 C>T	0.0	4253	MELANOMA	-	-	-	-	AIM1L	ENST00000374207,p.E80K|NM_001039775,p.E735K|uc001bmd.4,p.E735K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001bmd.4	nonsynonymous SNV	exon2	c.G2203A	p.E735K	PAPVPTGAEASTESQLVSDPTEGKT	PAPVPTGAEASTKSQLVSDPTEGKT	5.0	5.0	unscreened	-	4253_1:26670946-26670946 C>T_PAPVPTGAEASTKSQLVSDPTEGKT
8:55538627-55538627 G>A	0.0	4253	MELANOMA	-	-	ID=COSM233277;OCCURENCE=1(skin)	-	RP1	ENST00000220676,p.E729K|NM_006269,p.E729K|uc003xsd.1,p.E729K	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.G2185A	p.E729K	SDSPLKGGILCEEDLQKSDTVIESN	SDSPLKGGILCEKDLQKSDTVIESN	1.0	4.0	unscreened	-	4253_8:55538627-55538627 G>A_SDSPLKGGILCEKDLQKSDTVIESN
1:152128229-152128229 G>A	0.0	4253	MELANOMA	-	-	-	-	RPTN	ENST00000316073,p.S449F|NM_001122965,p.S449F|uc001ezs.1,p.S449F	protein_coding	uc001ezs.1	nonsynonymous SNV	exon3	c.C1346T	p.S449F	SHYGQPDRQGQNSHYGQTDRQGQSS	SHYGQPDRQGQNFHYGQTDRQGQSS	1.0	4.0	unscreened	-	4253_1:152128229-152128229 G>A_SHYGQPDRQGQNFHYGQTDRQGQSS
X:1315011-1315011 G>A	0.0	4253	MELANOMA	-	-	-	1	CRLF2	ENST00000381567,p.A217V|ENST00000400841,p.A217V|uc004cpk.2,p.A217V|uc022brs.1,p.A217V|uc022brt.1,p.A217V|uc004cpl.2,p.A105V|NM_022148,p.A217V|NM_001012288,p.A105V	protein_coding, processed_transcript	uc022brt.1	nonsynonymous SNV	exon7	c.C650T	p.A217V	EVTCWQRGEIRDACAETPTPPKPKL	EVTCWQRGEIRDVCAETPTPPKPKL	1.0	5.0	unscreened	-	4253_X:1315011-1315011 G>A_EVTCWQRGEIRDVCAETPTPPKPKL
17:78169377-78169377 A>-	1.0	4253	MELANOMA	-	-	-	-	CARD14	ENST00000575500,p.G484fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000575500	frameshift deletion	exon12	c.1452delA	p.G484fs	RTLVFQQLPGDPGGRPGSPAGS	RTLVFQQLPGDPGGDPGALPGA	5.0	5.0	unscreened	-	4253_17:78169377-78169377 A>-_RTLVFQQLPGDPGGDPGALPGA
5:41015542-41015542 C>T	0.0	4253	MELANOMA	-	-	-	-	MROH2B	ENST00000399564,p.E975K|ENST00000506092,p.E530K|uc003jmi.4,p.E530K|NM_173489,p.E975K|uc003jmj.4,p.E975K	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon29	c.G2923A	p.E975K	IHLEVERLQGLQEGLESDDVQVQIK	IHLEVERLQGLQKGLESDDVQVQIK	1.0	6.0	unscreened	-	4253_5:41015542-41015542 C>T_IHLEVERLQGLQKGLESDDVQVQIK
5:140778962-140778962 G>A	0.0	4253	MELANOMA	-	-	-	-	PCDHGB5	NM_018925,p.R423K|uc011daw.2,p.R423K|uc003lkf.2,p.R423K|NM_032099,p.R423K	protein_coding	uc011daw.2	nonsynonymous SNV	exon1	c.G1268A	p.R423K	TPEYNVTITATDRGKPPLSSSISVI	TPEYNVTITATDKGKPPLSSSISVI	7.0	5.0	unscreened	-	4253_5:140778962-140778962 G>A_TPEYNVTITATDKGKPPLSSSISVI
4:115997694-115997694 C>T	0.0	4253	MELANOMA	-	-	-	-	NDST4	ENST00000264363,p.A167T|uc003ibu.3,p.A167T|NM_022569,p.A167T	retained_intron, protein_coding, nonsense_mediated_decay	uc003ibu.3	nonsynonymous SNV	exon2	c.G499A	p.A167T	VEYSVSIIGFHKANENSLPSTQLKG	VEYSVSIIGFHKTNENSLPSTQLKG	3.0	5.0	unscreened	-	4253_4:115997694-115997694 C>T_VEYSVSIIGFHKTNENSLPSTQLKG
12:111747847-111747847 G>A	0.0	4253	MELANOMA	-	-	-	-	CUX2	NM_015267,p.E421K|uc001tsa.2,p.E421K|ENST00000261726,p.E421K	protein_coding, processed_transcript	uc001tsa.2	nonsynonymous SNV	exon15	c.G1261A	p.E421K	LLEKPSLLASPEEDPSEDDSIKDSL	LLEKPSLLASPEKDPSEDDSIKDSL	3.0	6.0	unscreened	-	4253_12:111747847-111747847 G>A_LLEKPSLLASPEKDPSEDDSIKDSL
7:123296267-123296267 G>A	0.0	4253	MELANOMA	-	-	-	-	LMOD2	ENST00000456238,p.E84K	protein_coding	ENST00000456238	nonsynonymous SNV	exon1	c.G250A	p.E84K	YWEKESQKLLEKERLGECGKVKKQP	YWEKESQKLLEKKRLGECGKVKKQP	1.0	4.0	unscreened	-	4253_7:123296267-123296267 G>A_YWEKESQKLLEKKRLGECGKVKKQP
8:80575879-80575879 G>A	0.0	4253	MELANOMA	-	-	-	-	STMN2	uc022awk.1,p.R182K|NM_001199214,p.R182K|ENST00000518111,p.R182K	protein_coding	uc022awk.1	nonsynonymous SNV	exon5	c.G545A	p.R182K	KESIESQFLELQREGEKQ	KESIESQFLELQKEGEKQ	4.0	4.0	unscreened	-	4253_8:80575879-80575879 G>A_KESIESQFLELQKEGEKQ
7:117232394-117232394 G>A	0.0	4253	MELANOMA	0.0	-	-	-	CFTR	ENST00000454343,p.E664K|uc003vjd.3,p.E725K|ENST00000003084,p.E725K|ENST00000426809,p.E695K|NM_000492,p.E725K|uc011knq.2,p.E131K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011knq.2	nonsynonymous SNV	exon14	c.G391A	p.E131K	IVQKTPLQMNGIEEDSDEPLERRLS	IVQKTPLQMNGIKEDSDEPLERRLS	1.0	5.0	unscreened	-	4253_7:117232394-117232394 G>A_IVQKTPLQMNGIKEDSDEPLERRLS
1:152059095-152059095 C>T	0.0	4253	MELANOMA	-	-	-	-	TCHHL1	ENST00000368806,p.D355N|NM_001008536,p.D355N|uc001ezo.1,p.D355N	protein_coding	uc001ezo.1	nonsynonymous SNV	exon3	c.G1063A	p.D355N	TPAKTKNLGEPEDYGRTSETQEKEC	TPAKTKNLGEPENYGRTSETQEKEC	1.0	6.0	unscreened	-	4253_1:152059095-152059095 C>T_TPAKTKNLGEPENYGRTSETQEKEC
16:57918204-57918204 C>T	0.0	4253	MELANOMA	-	-	-	-	CNGB1	uc002emt.2,p.R1207K|NM_001286130,p.R1201K|NM_001297,p.R1207K|uc010cdh.2,p.R1201K|ENST00000251102,p.R1207K|ENST00000564448,p.R1201K	retained_intron, protein_coding, processed_transcript	uc010cdh.2	nonsynonymous SNV	exon33	c.G3602A	p.R1201K	SPPSSPPPASLGRPEGEEEGPAEPE	SPPSSPPPASLGKPEGEEEGPAEPE	1.0	4.0	unscreened	-	4253_16:57918204-57918204 C>T_SPPSSPPPASLGKPEGEEEGPAEPE
20:34022041-34022041 C>T	0.0	4253	MELANOMA	-	-	ID=COSM459769,COSM1134552,COSM1134553;OCCURENCE=1(cervix)	-	GDF5	NM_000557,p.R391Q|uc010gfc.1,p.R391Q|uc002xck.1,p.R391Q|ENST00000374372,p.R391Q|ENST00000374369,p.R391Q	protein_coding	uc010gfc.1	nonsynonymous SNV	exon2	c.G1172A	p.R391Q	KRRAPLATRQGKRPSKNLKARCSRK	KRRAPLATRQGKQPSKNLKARCSRK	5.0	5.0	unscreened	-	4253_20:34022041-34022041 C>T_KRRAPLATRQGKQPSKNLKARCSRK
1:152057913-152057913 C>T	0.0	4253	MELANOMA	-	-	-	-	TCHHL1	ENST00000368806,p.E749K|NM_001008536,p.E749K|uc001ezo.1,p.E749K	protein_coding	uc001ezo.1	nonsynonymous SNV	exon3	c.G2245A	p.E749K	ETKEPVTSEEEDESPQELAGEGGDQ	ETKEPVTSEEEDKSPQELAGEGGDQ	1.0	5.0	unscreened	-	4253_1:152057913-152057913 C>T_ETKEPVTSEEEDKSPQELAGEGGDQ
19:49564629-49564629 C>T	0.0	4253	MELANOMA	-	-	-	-	NTF4	uc021uxg.1,p.R209Q|ENST00000593537,p.R209Q|NM_006179,p.R209Q|uc002pmf.4,p.R209Q|ENST00000301411,p.R209Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc021uxg.1	nonsynonymous SNV	exon1	c.G626A	p.R209Q	TACVCTLLSRTGRA	TACVCTLLSRTGQA	3.0	6.0	unscreened	-	4253_19:49564629-49564629 C>T_TACVCTLLSRTGQA
8:28384783-28384783 ->A	1.0	4253	MELANOMA	-	-	-	-	FZD3	ENST00000240093,p.L169fs|NM_017412,p.L169fs|uc003xgx.3,p.L169fs|uc010lvb.3,p.L169fs|NM_145866,p.L169fs|ENST00000537916,p.L169fs	protein_coding, processed_transcript	uc010lvb.3	frameshift insertion	exon4	c.507dupA	p.L169fs	VQRDYGFWCPRELKIDPDLGYSFLH	VQRDYGFWCPRELKN	7.0	6.0	unscreened	-	4253_8:28384783-28384783 ->A_VQRDYGFWCPRELKN
1:48999879-48999879 G>A	0.0	4253	MELANOMA	-	-	-	-	AGBL4	NM_032785,p.S493L|uc010omx.1,p.S496L|ENST00000371839,p.S493L|ENST00000334103,p.S217L|uc010omw.1,p.S217L|uc001cru.2,p.S493L	protein_coding, processed_transcript	uc010omx.1	nonsynonymous SNV	exon13	c.C1487T	p.S496L	SNYPNSKGDKKSSVNHKDPSTPF	SNYPNSKGDKKSLVNHKDPSTPF	4.0	5.0	unscreened	-	4253_1:48999879-48999879 G>A_SNYPNSKGDKKSLVNHKDPSTPF
3:167051674-167051674 C>T	0.0	4253	MELANOMA	-	-	-	-	ZBBX	NM_024687,p.E210K|ENST00000392764,p.E181K|NM_001199202,p.E181K|ENST00000392767,p.E210K|ENST00000307529,p.E210K|uc011bpc.2,p.E210K|ENST00000455345,p.E210K|ENST00000392766,p.E210K|uc003feq.3,p.E181K|NM_001199201,p.E210K|uc003fep.3,p.E210K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bpc.2	nonsynonymous SNV	exon10	c.G628A	p.E210K	PDEPKEENNSTKETSKIQHKPKSVL	PDEPKEENNSTKKTSKIQHKPKSVL	1.0	7.0	unscreened	-	4253_3:167051674-167051674 C>T_PDEPKEENNSTKKTSKIQHKPKSVL
18:14787055-14787055 G>A	0.0	4253	MELANOMA	-	-	-	-	ANKRD30B	ENST00000447268,p.E564K|NM_001145029,p.E564K|ENST00000580206,p.E564K|uc010dlo.2,p.E564K|ENST00000358984,p.E564K|uc021uhy.1,p.E564K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uhy.1	nonsynonymous SNV	exon15	c.G1690A	p.E564K	EQTLRAAQMFPSESKQKDDEENSWD	EQTLRAAQMFPSKSKQKDDEENSWD	6.0	6.0	unscreened	-	4253_18:14787055-14787055 G>A_EQTLRAAQMFPSKSKQKDDEENSWD
18:3188820-3188820 C>T	0.0	4253	MELANOMA	-	-	-	-	MYOM1	NM_003803,p.E233K|uc002klq.3,p.E233K|uc002klp.3,p.E233K|NM_019856,p.E233K|ENST00000400569,p.E233K|ENST00000261606,p.E233K|ENST00000356443,p.E233K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002klq.3	nonsynonymous SNV	exon4	c.G697A	p.E233K	VVSKQATSALQQEETSEKKSRKVVI	VVSKQATSALQQKETSEKKSRKVVI	5.0	6.0	unscreened	-	4253_18:3188820-3188820 C>T_VVSKQATSALQQKETSEKKSRKVVI
1:153177241-153177241 G>A	0.0	4253	MELANOMA	-	-	-	-	LELP1	uc021ozv.1,p.D20N|NM_001010857,p.D20N|uc001fbl.4,p.D20N|ENST00000368747,p.D20N	protein_coding	uc021ozv.1	nonsynonymous SNV	exon1	c.G58A	p.D20N	KSNDPKTEPKNCDPKCEQKCESKCQ	KSNDPKTEPKNCNPKCEQKCESKCQ	1.0	5.0	unscreened	-	4253_1:153177241-153177241 G>A_KSNDPKTEPKNCNPKCEQKCESKCQ
5:180424335-180424335 G>A	0.0	4253	MELANOMA	-	-	-	-	BTNL3	uc003mmr.3,p.D174N|ENST00000342868,p.D174N|NM_197975,p.D174N	protein_coding	uc003mmr.3	nonsynonymous SNV	exon3	c.G520A	p.D174N	QPTAKWKGPQGQDLSSDSRANADGY	QPTAKWKGPQGQNLSSDSRANADGY	1.0	4.0	unscreened	-	4253_5:180424335-180424335 G>A_QPTAKWKGPQGQNLSSDSRANADGY
1:248059823-248059823 G>A	1.0	4253	MELANOMA	-	-	-	-	OR2W3	NM_001001957,p.G312E|uc001idp.1,p.G312E|ENST00000360358,p.G312E|uc010pzb.2,p.G312E|ENST00000537741,p.G312E	protein_coding	uc010pzb.2	nonsynonymous SNV	exon1	c.G935A	p.G312E	ALGRLLLGKRELGKE	ALGRLLLGKRELEKE	6.0	4.0	unscreened	-	4253_1:248059823-248059823 G>A_ALGRLLLGKRELEKE
8:93017381-93017381 C>T	0.0	4253	MELANOMA	-	-	ID=COSM1102436,COSM1102437,COSM1102438;OCCURENCE=1(endometrium),1(skin)	1	RUNX1T1	ENST00000518361,p.R3Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000518361	nonsynonymous SNV	exon1	c.G8A	p.R3Q	ASRCERKREEANSRQ	ASQCERKREEANSRQ	7.0	5.0	unscreened	-	4253_8:93017381-93017381 C>T_ASQCERKREEANSRQ
12:65449826-65449826 C>T	0.0	4253	MELANOMA	-	-	-	1	WIF1	uc001ssk.3,p.D303N|NM_007191,p.D303N|ENST00000286574,p.D303N	protein_coding	uc001ssk.3	nonsynonymous SNV	exon8	c.G907A	p.D303N	KSKCKCSKGYQGDLCSKPVCEPGCG	KSKCKCSKGYQGNLCSKPVCEPGCG	4.0	5.0	unscreened	-	4253_12:65449826-65449826 C>T_KSKCKCSKGYQGNLCSKPVCEPGCG
5:43245953-43245953 G>A	0.0	4253	MELANOMA	-	-	-	-	NIM1K	uc031sjg.1,p.E26K|ENST00000326035,p.E26K|uc003jno.4,p.E26K|ENST00000512796,p.E26K|NM_153361,p.E26K	protein_coding, processed_transcript	uc031sjg.1	nonsynonymous SNV	exon2	c.G76A	p.E26K	PHYARWDRRDSVESGCQTESSKEGE	PHYARWDRRDSVKSGCQTESSKEGE	5.0	6.0	unscreened	-	4253_5:43245953-43245953 G>A_PHYARWDRRDSVKSGCQTESSKEGE
5:74441830-74441830 C>T	0.0	4253	MELANOMA	-	-	-	-	ANKRD31	ENST00000274361,p.E1136K|NM_001164443,p.E1136K|uc003kdo.2,p.E1136K	protein_coding, processed_transcript	uc003kdo.2	nonsynonymous SNV	exon14	c.G3406A	p.E1136K	ANISKLSQREKKEISHKPGMKAGRI	ANISKLSQREKKKISHKPGMKAGRI	4.0	5.0	unscreened	-	4253_5:74441830-74441830 C>T_ANISKLSQREKKKISHKPGMKAGRI
7:141921854-141921854 C>T	0.0	4253	MELANOMA	-	-	-	-	LOC93432	ENST00000477922,p.P2515S|NM_001293626,p.P2515S	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon48	c.C7543T	p.P2515S	TYIANAINATQVP	TYIANAINATQVS	2.0	4.0	unscreened	-	4253_7:141921854-141921854 C>T_TYIANAINATQVS
6:33690504-33690504 C>T	0.0	4253	MELANOMA	-	-	-	-	IP6K3	ENST00000451316,p.G409E|uc010jvf.2,p.G409E|ENST00000293756,p.G409E|NM_054111,p.G409E|NM_001142883,p.G409E|uc003ofb.2,p.G409E	protein_coding	uc010jvf.2	nonsynonymous SNV	exon7	c.G1226A	p.G409E	ENLIRILQDIQEGE	ENLIRILQDIQEEE	2.0	4.0	unscreened	-	4253_6:33690504-33690504 C>T_ENLIRILQDIQEEE
12:86373544-86373544 C>T	1.0	4253	MELANOMA	-	-	-	-	MGAT4C	ENST00000552435,p.D109N	protein_coding, processed_transcript	ENST00000552435	nonsynonymous SNV	exon5	c.G325A	p.D109N	RKPHGLLFIIQRDGE	RKPHGLLFIIQRNGE	4.0	5.0	unscreened	-	4253_12:86373544-86373544 C>T_RKPHGLLFIIQRNGE
5:112203086-112203118 ACTTCTGGTTCCTAGGTAAGTCAGTAATGTTGT>-	0.0	4253	MELANOMA	-	-	-	-	SRP19	uc021yck.1,p.V76fs|ENST00000515463,p.V76fs|NM_001204196,p.V76fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021yck.1	frameshift deletion	exon4	c.226_426del	p.V76fs	KMGASALYSSHHVSQ	KMGASALYSSHH	10.0	1.0	unscreened	-	4253_5:112203086-112203118 ACTTCTGGTTCCTAGGTAAGTCAGTAATGTTGT>-_KMGASALYSSHH
5:112203086-112203118 ACTTCTGGTTCCTAGGTAAGTCAGTAATGTTGT>-	0.0	4253	MELANOMA	-	-	-	-	SRP19	uc003kqb.2,p.T107fs|NM_001204193,p.T107fs|ENST00000282999,p.T107fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kqb.2	frameshift deletion	exon5	c.319_522del	p.T107fs	LVQFPSHYTLSLTSGS	LVQFPSHYTLSL	10.0	1.0	unscreened	-	4253_5:112203086-112203118 ACTTCTGGTTCCTAGGTAAGTCAGTAATGTTGT>-_LVQFPSHYTLSL
X:46713034-46713034 G>T	1.0	4262	COLON	-	-	-	-	RP2	NM_006915,p.D76Y|uc004dgw.4,p.D76Y|ENST00000218340,p.D76Y	protein_coding	uc004dgw.4	nonsynonymous SNV	exon2	c.G226T	p.D76Y	IQDCENCNIYIFDHSATVTIDDCTN	IQDCENCNIYIFYHSATVTIDDCTN	8.0	6.0	-	-	4262_X:46713034-46713034 G>T_IQDCENCNIYIFYHSATVTIDDCTN
17:4841528-4841528 A>C	1.0	4262	COLON	-	-	-	-	SLC25A11	uc021toe.1,p.L169V|uc002fzo.2,p.L220V|ENST00000225665,p.L220V|NM_001165418,p.L169V|ENST00000576951,p.L209V|uc021tod.1,p.L209V|NM_003562,p.L220V|NM_001165417,p.L209V|ENST00000544061,p.L169V|uc002fzp.2,p.L216V	retained_intron, protein_coding	uc021toe.1	nonsynonymous SNV	exon5	c.T505G	p.L169V	FLLDSGYFSDNILCHFCASMISGLV	FLLDSGYFSDNIVCHFCASMISGLV	9.0	4.0	-	-	4262_17:4841528-4841528 A>C_FLLDSGYFSDNIVCHFCASMISGLV
7:138921831-138921835 TGAAA>-	1.0	4262	COLON	-	-	-	-	UBN2	ENST00000473989,p.F183fs|uc011kqr.2,p.F183fs|ENST00000288561,p.F100fs|NM_173569,p.F183fs	protein_coding	uc011kqr.2	frameshift deletion	exon2	c.549_553del	p.F183fs	QERQEVEMLAKKFEMKYGGKPRKHR	QERQEVEMLAKKFEIWWETP	7.0	9.0	-	-	4262_7:138921831-138921835 TGAAA>-_QERQEVEMLAKKFEIWWETP
4:367209-367209 A>T	1.0	4262	COLON	-	-	-	-	ZNF141	uc003gaa.2,p.K328I|ENST00000240499,p.K328I|NM_003441,p.K328I	protein_coding, processed_transcript	uc003gaa.2	nonsynonymous SNV	exon4	c.A983T	p.K328I	CGKAFNRSTTLTKHKRIHTGEKPYT	CGKAFNRSTTLTIHKRIHTGEKPYT	10.0	8.0	unscreened	-	4262_4:367209-367209 A>T_CGKAFNRSTTLTIHKRIHTGEKPYT
2:179393655-179393655 T>G	1.0	4262	COLON	-	-	-	-	TTN	ENST00000359218,p.E26668A|uc021vta.2,p.E26668A|uc031rqc.1,p.E35608A|NM_133437,p.E26735A|uc002umq.4,p.E57A|uc021vsz.2,p.E26735A|uc021vtb.2,p.E26543A|NM_001256850,p.E33967A|uc021vsy.2,p.E33040A|ENST00000460472,p.E26543A|NM_133432,p.E26668A|NM_001267550,p.E35608A|NM_133378,p.E33040A|ENST00000342175,p.E26735A|NM_003319,p.E26543A|uc031rqd.1,p.E33967A	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon310	c.A101900C	p.E33967A	TSQASEEVRTHAEIKAFSTQMSINE	TSQASEEVRTHAAIKAFSTQMSINE	6.0	3.0	-	-	4262_2:179393655-179393655 T>G_TSQASEEVRTHAAIKAFSTQMSINE
6:90415845-90415845 C>T	1.0	4262	COLON	-	-	-	-	MDN1	ENST00000369393,p.C2694Y|NM_014611,p.C2694Y|ENST00000428876,p.C2694Y|uc003pnn.1,p.C2694Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pnn.1	nonsynonymous SNV	exon53	c.G8081A	p.C2694Y	EIVVNLAAFFELCDALVLLWVQSSQ	EIVVNLAAFFELYDALVLLWVQSSQ	8.0	7.0	-	-	4262_6:90415845-90415845 C>T_EIVVNLAAFFELYDALVLLWVQSSQ
10:96998405-96998405 T>G	1.0	4262	COLON	-	-	-	-	PDLIM1	uc001kkh.4,p.K241N|NM_020992,p.K241N|ENST00000329399,p.K241N	protein_coding, processed_transcript	uc001kkh.4	nonsynonymous SNV	exon6	c.A723C	p.K241N	GDPNKPSGFRSVKAPVTKVAASIGN	GDPNKPSGFRSVNAPVTKVAASIGN	9.0	2.0	-	-	4262_10:96998405-96998405 T>G_GDPNKPSGFRSVNAPVTKVAASIGN
7:105904013-105904013 A>G	1.0	4262	COLON	-	-	-	-	NAMPT	uc003vdr.1,p.I265T|ENST00000354289,p.I265T|uc011klu.1,p.I178T|NM_005746,p.I265T|uc003vdq.3,p.I265T|ENST00000222553,p.I265T	retained_intron, protein_coding, processed_transcript	uc011klu.1	nonsynonymous SNV	exon5	c.T533C	p.I178T	WGKDHEKDAFEHIVTQFSSVPVSVV	WGKDHEKDAFEHTVTQFSSVPVSVV	10.0	9.0	CD8	-	4262_7:105904013-105904013 A>G_WGKDHEKDAFEHTVTQFSSVPVSVV
1:145330827-145330827 G>C	1.0	4262	COLON	-	-	-	-	NBPF20	NM_001278267,p.Q2247H	protein_coding, processed_transcript	NM_001278267	nonsynonymous SNV	exon64	c.G6741C	p.Q2247H	QPYRSAFYVLEQQRVGLAVDMDEIE	QPYRSAFYVLEQHRVGLAVDMDEIE	10.0	2.0	unscreened	-	4262_1:145330827-145330827 G>C_QPYRSAFYVLEQHRVGLAVDMDEIE
19:12154915-12154915 A>C	1.0	4262	COLON	-	-	-	-	ZNF878	uc021upl.1,p.V434G|ENST00000547628,p.V434G|ENST00000602107,p.V481G|NM_001080404,p.V434G	protein_coding	uc021upl.1	nonsynonymous SNV	exon4	c.T1301G	p.V434G	PYGCKQCGKVFRVASQLKMHERTHT	PYGCKQCGKVFRGASQLKMHERTHT	6.0	5.0	unscreened	-	4262_19:12154915-12154915 A>C_PYGCKQCGKVFRGASQLKMHERTHT
19:15473045-15473045 G>A	1.0	4262	COLON	-	-	-	-	AKAP8	ENST00000269701,p.S393F|uc010xog.2,p.S207F|NM_005858,p.S393F|uc002nav.3,p.S393F	retained_intron, protein_coding, nonsense_mediated_decay	uc010xog.2	nonsynonymous SNV	exon7	c.C620T	p.S207F	RDRAADRIQFACSVCKFRSFDDEEI	RDRAADRIQFACFVCKFRSFDDEEI	7.0	6.0	-	-	4262_19:15473045-15473045 G>A_RDRAADRIQFACFVCKFRSFDDEEI
17:46670956-46670986 AGAGAGCTGCCACTGCCATAATTTAGCAACT>-	0.0	4262	COLON	-	-	-	-	HOXB5	NM_002147,p.Q20fs|uc002inr.3,p.Q20fs|ENST00000239151,p.Q20fs	protein_coding	uc002inr.3	frameshift deletion	exon1	c.59_89del	p.Q20fs	SFSGRYPNGPDYQLLNYGSGSSLSG	SFSGRYPNGPDYRAALTGIPLPCTPALTATITMGWTSASTAPRPPPATLGRWARARAPSPRPPRSPASGKRLRAAPCPRPSPCPAPTATATAPSPLLRPPPTRRPQPAPAPISPK	7.0	3.0	-	-	4262_17:46670956-46670986 AGAGAGCTGCCACTGCCATAATTTAGCAACT>-_SFSGRYPNGPDYRAALTGIPLPCTPALTATITMGWTSASTAPRPPPATLGRWARARAPSPRPPRSPASGKRLRAAPCPRPSPCPAPTATATAPSPLLRPPPTRRPQPAPAPISPK
1:145330827-145330827 G>C	1.0	4262	COLON	-	-	-	-	NBPF20	uc021oul.2,p.Q1569H|uc021oun.1,p.Q481H|ENST00000342960,p.Q1569H	protein_coding, processed_transcript	uc021oun.1	nonsynonymous SNV	exon13	c.G1443C	p.Q481H	QPYRSAFYVLEQQHVGLAVDMDEIE	QPYRSAFYVLEQHHVGLAVDMDEIE	10.0	2.0	-	-	4262_1:145330827-145330827 G>C_QPYRSAFYVLEQHHVGLAVDMDEIE
2:25039569-25039569 T>G	1.0	4262	COLON	-	-	-	-	CENPO	ENST00000473706,p.L211V|uc002rfq.2,p.L217V|NM_001199803,p.L211V|NM_024322,p.L217V|ENST00000380834,p.L217V|uc002rfp.2,p.L211V|ENST00000260662,p.L217V	retained_intron, protein_coding, processed_transcript	uc002rfq.2	nonsynonymous SNV	exon6	c.T649G	p.L217V	LTGPLQRNPLCNLLSFTYKLDPGGQ	LTGPLQRNPLCNVLSFTYKLDPGGQ	6.0	1.0	-	-	4262_2:25039569-25039569 T>G_LTGPLQRNPLCNVLSFTYKLDPGGQ
7:30915239-30915239 T>G	1.0	4262	COLON	-	-	-	-	FAM188B	ENST00000265299,p.L647V|uc003tbu.3,p.L167V|NM_032222,p.L647V|uc010kwe.3,p.L618V|uc003tbt.3,p.L647V|ENST00000509504,p.L110V	retained_intron, protein_coding	uc010kwe.3	nonsynonymous SNV	exon17	c.T1852G	p.L618V	LRGIAARSDIGFLSLFEHYNMCQVG	LRGIAARSDIGFVSLFEHYNMCQVG	7.0	1.0	-	-	4262_7:30915239-30915239 T>G_LRGIAARSDIGFVSLFEHYNMCQVG
2:86297197-86297197 C>A	1.0	4262	COLON	-	-	-	-	POLR1A	uc002sqs.3,p.G604C|ENST00000263857,p.G604C|ENST00000409681,p.G604C|NM_015425,p.G604C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sqs.3	nonsynonymous SNV	exon13	c.G1810T	p.G604C	DEMNAHFPQSELGRAEAYVLACTDQ	DEMNAHFPQSELCRAEAYVLACTDQ	9.0	4.0	-	-	4262_2:86297197-86297197 C>A_DEMNAHFPQSELCRAEAYVLACTDQ
19:14854284-14854284 T>A	1.0	4262	COLON	-	-	-	-	EMR2	uc010dzs.2,p.E263V|ENST00000594294,p.E755V|ENST00000595839,p.E662V|ENST00000353005,p.E662V|ENST00000601345,p.E793V|ENST00000315576,p.E804V|uc031rjt.1,p.E804V|ENST00000346057,p.E755V|uc031rju.1,p.E793V|NM_013447,p.E804V|ENST00000392965,p.E746V|uc002mzp.2,p.E804V|ENST00000594076,p.E711V|ENST00000392967,p.E793V|ENST00000596991,p.E793V|ENST00000353876,p.E711V|uc010xnw.2,p.E746V|uc031rjs.1,p.E532V|NM_001271052,p.E746V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rju.1	nonsynonymous SNV	exon19	c.A2378T	p.E793V	WSKGIRKLKTESEMHTLSSSAKADT	WSKGIRKLKTESVMHTLSSSAKADT	7.0	2.0	-	-	4262_19:14854284-14854284 T>A_WSKGIRKLKTESVMHTLSSSAKADT
17:67094167-67094167 C>T	0.0	4262	COLON	-	-	-	-	ABCA6	NM_080284,p.S1005N|ENST00000284425,p.S1005N|uc002jhw.1,p.S1005N	retained_intron, protein_coding, processed_transcript	uc002jhw.1	nonsynonymous SNV	exon23	c.G3014A	p.S1005N	QHIRIESSPFPLSHIGLWTGLPDGS	QHIRIESSPFPLNHIGLWTGLPDGS	6.0	5.0	unscreened	-	4262_17:67094167-67094167 C>T_QHIRIESSPFPLNHIGLWTGLPDGS
12:101715289-101715289 T>G	1.0	4262	COLON	-	-	-	-	UTP20	ENST00000261637,p.L975V|uc001tia.1,p.L975V|NM_014503,p.L975V	retained_intron, protein_coding	uc001tia.1	nonsynonymous SNV	exon25	c.T2923G	p.L975V	YKHPHVLPYRENLQRLLEDRSFKEE	YKHPHVLPYRENVQRLLEDRSFKEE	8.0	5.0	-	-	4262_12:101715289-101715289 T>G_YKHPHVLPYRENVQRLLEDRSFKEE
20:44589143-44589143 G>A	1.0	4262	COLON	-	-	-	-	ZNF335	ENST00000322927,p.R602C|uc002xqw.3,p.R602C|uc010zxk.2,p.R447C|ENST00000426788,p.R447C|NM_022095,p.R602C	protein_coding, processed_transcript	uc010zxk.2	nonsynonymous SNV	exon10	c.C1339T	p.R447C	HMCDKCGKSFKKRYTFKMHLLTHIQ	HMCDKCGKSFKKCYTFKMHLLTHIQ	7.0	9.0	-	-	4262_20:44589143-44589143 G>A_HMCDKCGKSFKKCYTFKMHLLTHIQ
20:21336789-21336789 G>C	1.0	4262	COLON	-	-	-	-	XRN2	uc010zsk.1,p.E644Q|ENST00000377191,p.E698Q|uc002wsg.1,p.E622Q|ENST00000539513,p.E644Q|uc002wsf.1,p.E698Q|NM_012255,p.E698Q|ENST00000430571,p.E622Q	protein_coding	uc010zsk.1	nonsynonymous SNV	exon22	c.G1930C	p.E644Q	VGKHHPLHDFILELYQTGSTEPVEV	VGKHHPLHDFILQLYQTGSTEPVEV	10.0	6.0	-	-	4262_20:21336789-21336789 G>C_VGKHHPLHDFILQLYQTGSTEPVEV
2:203974886-203974886 A>C	0.0	4262	COLON	-	-	-	-	NBEAL1	ENST00000449802,p.S626R|NM_001114132,p.S626R|uc002uzt.3,p.S626R	retained_intron, protein_coding, processed_transcript	uc002uzt.3	nonsynonymous SNV	exon14	c.A1876C	p.S626R	GKRKQLYSFFTGSGMGFEAFITHSG	GKRKQLYSFFTGRGMGFEAFITHSG	8.0	2.0	-	-	4262_2:203974886-203974886 A>C_GKRKQLYSFFTGRGMGFEAFITHSG
5:137802835-137802835 C>G	1.0	4262	COLON	-	-	-	-	EGR1	NM_001964,p.L233V|uc003ldb.1,p.L233V|ENST00000239938,p.L233V	protein_coding	uc003ldb.1	nonsynonymous SNV	exon2	c.C697G	p.L233V	QSQAFPGSAGTALQYPPPAYPAAKG	QSQAFPGSAGTAVQYPPPAYPAAKG	7.0	6.0	-	-	4262_5:137802835-137802835 C>G_QSQAFPGSAGTAVQYPPPAYPAAKG
3:57132542-57132542 A>G	1.0	4262	COLON	-	-	-	-	IL17RD	uc003dil.3,p.F397L|ENST00000463523,p.F253L|ENST00000427856,p.F373L|NM_017563,p.F397L|ENST00000320057,p.F253L|uc011bex.1,p.F253L|uc003dik.3,p.F373L|uc010hna.3,p.F253L|ENST00000296318,p.F397L	retained_intron, protein_coding, processed_transcript	uc011bex.1	nonsynonymous SNV	exon12	c.T757C	p.F253L	CGCEVALDLWEDFSLCREGQREWVI	CGCEVALDLWEDLSLCREGQREWVI	7.0	2.0	-	-	4262_3:57132542-57132542 A>G_CGCEVALDLWEDLSLCREGQREWVI
17:63200387-63200387 G>A	0.0	4262	COLON	-	-	ID=COSM1264129;OCCURENCE=1(oesophagus)	-	RGS9	uc010dem.3,p.A388T|uc002jfe.3,p.A391T|uc021ubw.1,p.A388T|uc002jfd.3,p.A388T|ENST00000584234,p.A391T|ENST00000449996,p.A388T|ENST00000443584,p.A388T|uc002jfg.3,p.A162T|NM_001165933,p.A388T|NM_003835,p.A391T|ENST00000262406,p.A391T|NM_001081955,p.A388T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ubw.1	nonsynonymous SNV	exon15	c.G1162A	p.A388T	GLKHPHRYVLDAAQTHIYMLMKKDS	GLKHPHRYVLDATQTHIYMLMKKDS	6.0	8.0	-	-	4262_17:63200387-63200387 G>A_GLKHPHRYVLDATQTHIYMLMKKDS
6:26199423-26199423 T>C	1.0	4262	COLON	-	-	-	-	HIST1H2AD	uc003ngw.4,p.T17A|ENST00000341023,p.T17A|NM_021065,p.T17A	protein_coding	uc003ngw.4	nonsynonymous SNV	exon1	c.A49G	p.T17A	GKQGGKARAKAKTRSSRAGLQFPVG	GKQGGKARAKAKARSSRAGLQFPVG	10.0	6.0	-	-	4262_6:26199423-26199423 T>C_GKQGGKARAKAKARSSRAGLQFPVG
7:99786481-99786481 A>C	0.0	4262	COLON	-	-	-	-	STAG3	ENST00000317296,p.K186T|ENST00000426455,p.K186T|ENST00000439782,p.K128T|ENST00000394018,p.K128T|NM_001282717,p.K186T|uc011kjk.1,p.K128T|uc003utx.1,p.K186T|NM_001282718,p.K128T|NM_012447,p.K186T|NM_001282716,p.K186T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kjk.1	nonsynonymous SNV	exon5	c.A383C	p.K128T	DYPLIAPGPSWKKFQGSFCEFVRTL	DYPLIAPGPSWKTFQGSFCEFVRTL	6.0	7.0	-	-	4262_7:99786481-99786481 A>C_DYPLIAPGPSWKTFQGSFCEFVRTL
17:25633913-25633913 G>A	1.0	4262	COLON	-	-	-	-	WSB1	uc010vzy.1,p.R239H|ENST00000581185,p.R239H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vzy.1	nonsynonymous SNV	exon5	c.G716A	p.R239H	SMLCSVGASKAVRVKVLVHSL	SMLCSVGASKAVHVKVLVHSL	9.0	5.0	-	-	4262_17:25633913-25633913 G>A_SMLCSVGASKAVHVKVLVHSL
1:21546615-21546615 A>C	1.0	4262	COLON	-	-	-	-	ECE1	ENST00000436918,p.S684A|uc010odl.1,p.S684A	retained_intron, protein_coding, processed_transcript	uc010odl.1	nonsynonymous SNV	exon18	c.T2050G	p.S684A	NGGLKAAYRVWCSVRTPESSHEGLI	NGGLKAAYRVWCAVRTPESSHEGLI	9.0	3.0	-	-	4262_1:21546615-21546615 A>C_NGGLKAAYRVWCAVRTPESSHEGLI
20:35317084-35317084 T>A	1.0	4262	COLON	-	-	-	-	NDRG3	uc002xfw.3,p.N66I|NM_032013,p.N66I|uc002xfx.3,p.N54I|ENST00000373803,p.N66I|NM_022477,p.N54I|ENST00000422536,p.N57I|ENST00000359675,p.N54I|ENST00000349004,p.N66I	protein_coding	uc002xfx.3	nonsynonymous SNV	exon3	c.A161T	p.N54I	RPVILTYHDIGLNHKSCFNAFFNFE	RPVILTYHDIGLIHKSCFNAFFNFE	9.0	2.0	-	-	4262_20:35317084-35317084 T>A_RPVILTYHDIGLIHKSCFNAFFNFE
8:17612325-17612325 T>A	1.0	4262	COLON	-	-	-	-	MTUS1	uc003wxw.3,p.K331M|uc010lsz.3,p.K331M|uc003wxv.3,p.K331M|ENST00000519263,p.K331M|ENST00000262102,p.K331M|ENST00000381869,p.K331M|NM_001001925,p.K331M|ENST00000381862,p.K331M|NM_001001924,p.K331M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lsz.3	nonsynonymous SNV	exon2	c.A992T	p.K331M	NSEPHSQSSYRHKEMGQNLRETVSY	NSEPHSQSSYRHMEMGQNLRETVSY	8.0	8.0	-	-	4262_8:17612325-17612325 T>A_NSEPHSQSSYRHMEMGQNLRETVSY
5:141008128-141008134 TGGTCAT>-	1.0	4262	COLON	-	-	-	-	HDAC3	uc003lle.1,p.D171fs|uc003llf.2,p.D228fs|NM_003883,p.D228fs|ENST00000523088,p.D153fs|ENST00000305264,p.D228fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003llf.2	frameshift deletion	exon8	c.683_689del	p.D228fs	YYCLNVPLRDGIDDQSYKHLFQPVI	YYCLNVPLRDGIGVTSTFSSRLSTR	9.0	6.0	-	-	4262_5:141008128-141008134 TGGTCAT>-_YYCLNVPLRDGIGVTSTFSSRLSTR
7:32909817-32909817 T>A	1.0	4262	COLON	-	-	-	-	KBTBD2	ENST00000304056,p.S338C|uc003tdb.2,p.S338C|NM_015483,p.S338C	retained_intron, protein_coding, processed_transcript	uc003tdb.2	nonsynonymous SNV	exon4	c.A1012T	p.S338C	PLKNTKTNHSKTSKLQTAFRTVNCF	PLKNTKTNHSKTCKLQTAFRTVNCF	7.0	7.0	-	-	4262_7:32909817-32909817 T>A_PLKNTKTNHSKTCKLQTAFRTVNCF
17:74396565-74396565 C>T	1.0	4262	COLON	-	-	ID=COSM1269629,COSM1269628;OCCURENCE=1(oesophagus)	-	UBE2O	ENST00000319380,p.V321I|uc002jrm.4,p.V321I|uc002jrn.4,p.V321I|NM_022066,p.V321I	retained_intron, protein_coding, processed_transcript	uc002jrn.4	nonsynonymous SNV	exon7	c.G961A	p.V321I	ITKSFCPGGTDSVSPPPSVITQENL	ITKSFCPGGTDSISPPPSVITQENL	7.0	10.0	-	-	4262_17:74396565-74396565 C>T_ITKSFCPGGTDSISPPPSVITQENL
14:76012998-76012998 C>T	1.0	4262	COLON	-	-	-	-	BATF	NM_006399,p.P121L|uc001xrr.3,p.P121L|ENST00000286639,p.P121L	protein_coding, processed_transcript	uc001xrr.3	nonsynonymous SNV	exon3	c.C362T	p.P121L	SAHAFHQPHVSSPRFQP	SAHAFHQPHVSSLRFQP	6.0	10.0	-	-	4262_14:76012998-76012998 C>T_SAHAFHQPHVSSLRFQP
X:153215710-153215710 T>G	1.0	4262	COLON	-	-	-	-	HCFC1	uc004fjp.3,p.Q1996H|NM_005334,p.Q1996H|ENST00000310441,p.Q1996H|ENST00000354233,p.Q1927H|ENST00000369984,p.Q2041H	protein_coding, processed_transcript	uc004fjp.3	nonsynonymous SNV	exon24	c.A5988C	p.Q1996H	AARNEKGYGPATQVRWLQETSKDSS	AARNEKGYGPATHVRWLQETSKDSS	7.0	1.0	-	-	4262_X:153215710-153215710 T>G_AARNEKGYGPATHVRWLQETSKDSS
16:71772846-71772846 T>C	0.0	4262	COLON	-	-	-	-	AP1G1	uc002faz.3,p.K173R|ENST00000569748,p.K756R|ENST00000299980,p.K756R|uc021tky.1,p.K759R|ENST00000393512,p.K759R|ENST00000564155,p.K181R|uc002fbb.3,p.K779R|NM_001030007,p.K759R|ENST00000423132,p.K759R|ENST00000433195,p.K779R|uc010cgg.3,p.K756R|NM_001128,p.K756R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tky.1	nonsynonymous SNV	exon21	c.A2276G	p.K759R	DMTDFVFQAAVPKTFQLQLLSPSSS	DMTDFVFQAAVPRTFQLQLLSPSSS	10.0	7.0	unscreened	-	4262_16:71772846-71772846 T>C_DMTDFVFQAAVPRTFQLQLLSPSSS
4:76857384-76857384 A>T	1.0	4262	COLON	-	-	-	-	NAAA	ENST00000505594,p.C25S|uc003hjc.4,p.C126S|uc011cbq.2,p.C25S|ENST00000507187,p.C126S|ENST00000399497,p.C126S|ENST00000286733,p.C126S|NM_001042402,p.C126S|NM_014435,p.C126S|uc003hjb.3,p.C126S|uc003hja.3,p.C126S|uc010iiz.1,p.C126S|ENST00000507956,p.C126S	retained_intron, protein_coding, processed_transcript	uc011cbq.2	nonsynonymous SNV	exon2	c.T73A	p.C25S	LLVNLAYESSVFCTSIVAQDSRGHI	LLVNLAYESSVFSTSIVAQDSRGHI	10.0	1.0	-	-	4262_4:76857384-76857384 A>T_LLVNLAYESSVFSTSIVAQDSRGHI
17:41165868-41165868 C>T	1.0	4262	COLON	-	-	-	-	IFI35	NM_005533,p.P215L|ENST00000415816,p.P213L|uc021txx.1,p.P215L|ENST00000438323,p.P215L	retained_intron, protein_coding, processed_transcript	uc021txx.1	nonsynonymous SNV	exon6	c.C644T	p.P215L	PLGGQQVPLRVSPYVNGEIQKAEIR	PLGGQQVPLRVSLYVNGEIQKAEIR	8.0	10.0	-	-	4262_17:41165868-41165868 C>T_PLGGQQVPLRVSLYVNGEIQKAEIR
16:71772845-71772845 C>A	0.0	4262	COLON	-	-	-	-	AP1G1	NM_001128,p.K756N|uc002faz.3,p.K173N|ENST00000569748,p.K756N|uc010cgg.3,p.K756N|NM_001030007,p.K759N|ENST00000393512,p.K759N|uc021tky.1,p.K759N|ENST00000423132,p.K759N|uc002fbb.3,p.K779N|ENST00000433195,p.K779N|ENST00000564155,p.K181N|ENST00000299980,p.K756N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tky.1	nonsynonymous SNV	exon21	c.G2277T	p.K759N	DMTDFVFQAAVPKTFQLQLLSPSSS	DMTDFVFQAAVPNTFQLQLLSPSSS	10.0	8.0	unscreened	-	4262_16:71772845-71772845 C>A_DMTDFVFQAAVPNTFQLQLLSPSSS
13:97485133-97485133 G>T	0.0	4262	COLON	-	-	-	-	HS6ST3	NM_153456,p.R366I|uc001vmw.4,p.R366I|ENST00000376705,p.R366I	protein_coding	uc001vmw.4	nonsynonymous SNV	exon2	c.G1097T	p.R366I	TEFQRKTQFLFERTFNLKFISPFTQ	TEFQRKTQFLFEITFNLKFISPFTQ	1.0	10.0	-	-	4262_13:97485133-97485133 G>T_TEFQRKTQFLFEITFNLKFISPFTQ
14:30102151-30102151 C>T	0.0	4262	COLON	-	-	-	-	PRKD1	NM_002742,p.R439Q|ENST00000331968,p.R439Q|ENST00000415220,p.R447Q|uc001wqh.3,p.R439Q|ENST00000546371,p.R20Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wqh.3	nonsynonymous SNV	exon9	c.G1316A	p.R439Q	GWMVHYTSKDTLRKRHYWRLDSKCI	GWMVHYTSKDTLQKRHYWRLDSKCI	6.0	9.0	-	-	4262_14:30102151-30102151 C>T_GWMVHYTSKDTLQKRHYWRLDSKCI
21:46900432-46900432 C>T	0.0	4262	COLON	-	-	-	-	COL18A1	NM_030582,p.R664W|ENST00000359759,p.R899W|NM_130445,p.R484W|ENST00000355480,p.R664W|uc002zhg.3,p.R484W|uc002zhi.3,p.R664W|ENST00000400337,p.R484W	retained_intron, protein_coding, processed_transcript	uc002zhi.3	nonsynonymous SNV	exon11	c.C1990T	p.R664W	EGSGFGGDLEALRGPRGFPGPPGPP	EGSGFGGDLEALWGPRGFPGPPGPP	9.0	1.0	-	-	4262_21:46900432-46900432 C>T_EGSGFGGDLEALWGPRGFPGPPGPP
13:38237643-38237643 C>A	0.0	4262	COLON	-	-	-	-	TRPC4	NM_001135956,p.G533V|uc001uws.3,p.G533V|NM_016179,p.G533V|ENST00000338947,p.G360V|uc001uwt.3,p.G533V|ENST00000358477,p.G533V|ENST00000447043,p.G533V|NM_001135955,p.G533V|ENST00000355779,p.G533V|uc010aby.3,p.G533V|NM_003306,p.G533V|uc010abx.3,p.G533V|uc010tey.2,p.G533V|uc010abv.3,p.G113V|ENST00000379705,p.G533V|ENST00000379681,p.G533V|ENST00000379673,p.G533V|uc010abw.3,p.G360V|NM_001135957,p.G533V|NM_001135958,p.G360V|ENST00000379679,p.G360V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tey.2	nonsynonymous SNV	exon6	c.G1598T	p.G533V	FIYCLVLLAFANGLNQLYFYYEETK	FIYCLVLLAFANVLNQLYFYYEETK	5.0	1.0	-	-	4262_13:38237643-38237643 C>A_FIYCLVLLAFANVLNQLYFYYEETK
1:84971714-84971714 C>T	1.0	4262	COLON	-	-	-	-	GNG5	ENST00000370645,p.A21T|NM_005274,p.A21T|ENST00000370641,p.A21T|uc001djw.4,p.A21T	protein_coding, processed_transcript	uc001djw.4	nonsynonymous SNV	exon2	c.G61A	p.A21T	AMKKVVQQLRLEAGLNRVKVSQAAA	AMKKVVQQLRLETGLNRVKVSQAAA	9.0	8.0	-	-	4262_1:84971714-84971714 C>T_AMKKVVQQLRLETGLNRVKVSQAAA
2:220432851-220432851 T>G	0.0	4262	COLON	-	-	-	-	OBSL1	NM_001173408,p.K403T|uc010fwl.2,p.K403T|ENST00000603926,p.K403T|ENST00000373876,p.K403T|NM_015311,p.K403T|ENST00000265318,p.K403T|ENST00000404537,p.K403T|uc010fwk.3,p.K403T|ENST00000373873,p.K403T|uc002vmi.3,p.K403T|NM_001173431,p.K403T	retained_intron, protein_coding, processed_transcript	uc010fwl.2	nonsynonymous SNV	exon2	c.A1208C	p.K403T	EGTVRRLIIHRLKADDDGIYLCEMR	EGTVRRLIIHRLTADDDGIYLCEMR	8.0	2.0	-	-	4262_2:220432851-220432851 T>G_EGTVRRLIIHRLTADDDGIYLCEMR
21:39775441-39775441 G>C	0.0	4262	COLON	-	-	-	1	ERG	uc002yxc.4,p.H200Q|ENST00000453032,p.H101Q|NM_001136155,p.H101Q|ENST00000417133,p.H200Q|NM_182918,p.H193Q|NM_001243429,p.H101Q|ENST00000398897,p.H101Q|uc010gnw.3,p.H200Q|uc010gnx.3,p.H200Q|NM_001291391,p.H200Q|ENST00000398910,p.H200Q|uc021wjd.1,p.H200Q|NM_004449,p.H200Q|NM_001136154,p.H200Q|ENST00000398907,p.H193Q|uc002yxb.3,p.H200Q|uc002yxa.3,p.H193Q|ENST00000398911,p.H200Q|uc010gnv.3,p.H101Q|uc011aek.2,p.H101Q|ENST00000442448,p.H200Q|ENST00000398919,p.H200Q|NM_001243428,p.H200Q|uc011ael.2,p.H200Q|ENST00000398905,p.H193Q|NM_001243432,p.H200Q|ENST00000288319,p.H193Q	retained_intron, protein_coding, processed_transcript	uc021wjd.1	nonsynonymous SNV	exon6	c.C600G	p.H200Q	PSYNADILLSHLHYLRETPLPHLTS	PSYNADILLSHLQYLRETPLPHLTS	6.0	3.0	-	-	4262_21:39775441-39775441 G>C_PSYNADILLSHLQYLRETPLPHLTS
12:133732778-133732778 A>T	1.0	4262	COLON	-	-	-	-	ZNF10	NM_015394,p.T316S|ENST00000426665,p.T316S|uc009zzb.3,p.T316S|ENST00000402932,p.T182S|ENST00000248211,p.T316S|uc001ulq.3,p.T316S	protein_coding, processed_transcript	uc009zzb.3	nonsynonymous SNV	exon5	c.A946T	p.T316S	RSSHLIGHQKTHTGEEPYECKECGK	RSSHLIGHQKTHSGEEPYECKECGK	6.0	6.0	-	-	4262_12:133732778-133732778 A>T_RSSHLIGHQKTHSGEEPYECKECGK
X:5821388-5821388 A>T	0.0	4262	COLON	-	-	-	-	NLGN4X	NM_001282146,p.F444Y|uc004crr.3,p.F444Y|ENST00000381092,p.F444Y|uc010ndh.3,p.F444Y|ENST00000275857,p.F444Y|NM_001282145,p.F444Y|ENST00000381095,p.F444Y|uc004crq.3,p.F444Y|uc010ndj.3,p.F444Y|NM_181332,p.F444Y|ENST00000538097,p.F444Y|ENST00000381093,p.F464Y|uc010ndi.3,p.F481Y|uc004crp.3,p.F464Y|NM_020742,p.F444Y	protein_coding, processed_transcript	uc010ndj.3	nonsynonymous SNV	exon6	c.T1331A	p.F444Y	NPETRRKTLVALFTDHQWVAPAVAT	NPETRRKTLVALYTDHQWVAPAVAT	5.0	6.0	-	-	4262_X:5821388-5821388 A>T_NPETRRKTLVALYTDHQWVAPAVAT
2:100171183-100171183 T>G	0.0	4262	COLON	-	-	-	1	AFF3	NM_001025108,p.K1124N|ENST00000317233,p.K1099N|uc002taf.3,p.K1124N|ENST00000409236,p.K1099N|ENST00000356421,p.K1124N|ENST00000445815,p.K141N|uc002tag.3,p.K1099N|NM_002285,p.K1099N|ENST00000409579,p.K1124N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tag.3	nonsynonymous SNV	exon22	c.A3297C	p.K1099N	SKALIDYFKNSSKAAQAPSPWGASG	SKALIDYFKNSSNAAQAPSPWGASG	6.0	3.0	-	-	4262_2:100171183-100171183 T>G_SKALIDYFKNSSNAAQAPSPWGASG
11:5686131-5686131 A>C	1.0	4262	COLON	-	-	-	-	TRIM5	uc001mbm.2,p.F464V|ENST00000305836,p.F464V|NM_033034,p.F464V|ENST00000380034,p.F464V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mbm.2	nonsynonymous SNV	exon8	c.T1390G	p.F464V	FNITNHGFLIYKFSHCSFSQPVFPY	FNITNHGFLIYKVSHCSFSQPVFPY	6.0	3.0	-	-	4262_11:5686131-5686131 A>C_FNITNHGFLIYKVSHCSFSQPVFPY
1:154950506-154950506 A>C	1.0	4262	COLON	-	-	-	-	CKS1B	ENST00000368436,p.T35P|NM_001826,p.T35P|ENST00000368439,p.T19P|uc001fgb.3,p.T35P|ENST00000308987,p.T35P	protein_coding, processed_transcript	uc001fgb.3	nonsynonymous SNV	exon2	c.A103C	p.T35P	MLPKDIAKLVPKTHLMSESEWRNLG	MLPKDIAKLVPKPHLMSESEWRNLG	10.0	1.0	-	-	4262_1:154950506-154950506 A>C_MLPKDIAKLVPKPHLMSESEWRNLG
1:205238340-205238342 AGA>-	0.0	4262	COLON	-	-	-	-	TMCC2	NM_001297613,p.97_98del|NM_001297611,p.112_113del|ENST00000367159,p.141_142del|uc001hcb.2,p.97_98del|ENST00000330675,p.112_113del|uc021pia.1,p.337_338del|ENST00000358024,p.337_338del|NM_014858,p.337_338del|NM_001242925,p.259_260del|ENST00000329800,p.97_98del|uc010prf.2,p.259_260del|uc001hcd.3,p.104_105del|ENST00000545499,p.259_260del|uc001hca.3,p.112_113del	protein_coding, processed_transcript	uc021pia.1	nonframeshift deletion	exon3	c.1010_1012del	p.337_338del	DKQQVSRIKQVFEKKNQKSAQTIAQ	DKQQVSRIKQVFEKNQKSAQTIAQL	5.0	7.0	-	-	4262_1:205238340-205238342 AGA>-_DKQQVSRIKQVFEKNQKSAQTIAQL
14:21550028-21550028 C>T	1.0	4262	COLON	-	-	-	-	ARHGEF40	NM_018071,p.R1001W|ENST00000298693,p.R1001W|NM_001278529,p.R287W|uc010tln.2,p.R287W|NM_001278530,p.R287W|ENST00000298694,p.R1001W|uc001vzo.1,p.R80W|uc001vzp.3,p.R1001W	retained_intron, protein_coding, nonsense_mediated_decay	uc010tln.2	nonsynonymous SNV	exon14	c.C859T	p.R287W	LSSLLLPSSPGPRPAPSHCSLAPCG	LSSLLLPSSPGPWPAPSHCSLAPCG	7.0	1.0	-	-	4262_14:21550028-21550028 C>T_LSSLLLPSSPGPWPAPSHCSLAPCG
9:70999369-70999369 G>T	0.0	4262	COLON	-	-	-	-	PGM5	NM_021965,p.E160D|uc004agr.3,p.E160D|ENST00000396396,p.E160D|ENST00000396392,p.E160D	retained_intron, protein_coding, processed_transcript	uc004agr.3	nonsynonymous SNV	exon3	c.G480T	p.E160D	VSDKIYQISKTIEEYAICPDLRIDL	VSDKIYQISKTIDEYAICPDLRIDL	6.0	3.0	unscreened	-	4262_9:70999369-70999369 G>T_VSDKIYQISKTIDEYAICPDLRIDL
X:8555927-8555927 T>A	0.0	4262	COLON	-	-	-	-	KAL1	ENST00000262648,p.I212F|NM_000216,p.I212F|uc004csf.3,p.I212F	protein_coding, processed_transcript	uc004csf.3	nonsynonymous SNV	exon5	c.A634T	p.I212F	LEVKWSSKFNISIEPVIYVVQRRWN	LEVKWSSKFNISFEPVIYVVQRRWN	5.0	6.0	-	-	4262_X:8555927-8555927 T>A_LEVKWSSKFNISFEPVIYVVQRRWN
21:26965184-26965184 T>G	1.0	4262	COLON	-	-	-	-	MRPL39	ENST00000352957,p.Q287H|ENST00000307301,p.Q287H|uc002ylo.3,p.Q287H|uc002yln.3,p.Q287H|NM_017446,p.Q287H|NM_080794,p.Q287H|ENST00000419219,p.Q277H	protein_coding	uc002ylo.3	nonsynonymous SNV	exon8	c.A861C	p.Q287H	CFQYEVSAVHNLQPTQPSLIRRFQG	CFQYEVSAVHNLHPTQPSLIRRFQG	9.0	4.0	-	-	4262_21:26965184-26965184 T>G_CFQYEVSAVHNLHPTQPSLIRRFQG
20:42788547-42788547 C>T	0.0	4262	COLON	-	-	-	-	JPH2	uc002xli.1,p.E294K|NM_020433,p.E294K|ENST00000372980,p.E294K	protein_coding	uc002xli.1	nonsynonymous SNV	exon2	c.G880A	p.E294K	DIDATTTETYMGEWKNDKRSGFGVS	DIDATTTETYMGKWKNDKRSGFGVS	5.0	1.0	-	-	4262_20:42788547-42788547 C>T_DIDATTTETYMGKWKNDKRSGFGVS
7:92734435-92734435 ->CAT	0.0	4262	COLON	-	-	-	-	SAMD9	uc003umg.3,p.Q326delinsMQ|ENST00000446617,p.Q326delinsMQ|NM_017654,p.Q326delinsMQ|uc003umf.3,p.Q326delinsMQ|uc022ahg.1,p.Q326delinsMQ|NM_001193307,p.Q326delinsMQ|ENST00000379958,p.Q326delinsMQ	protein_coding	uc022ahg.1	nonframeshift insertion	exon1	c.975_976insATG	p.Q326delinsMQ	SECQYDYFQIKMQNYNNKIWEQSKK	SECQYDYFQIKMMQNYNNKIWEQSK	6.0	4.0	-	-	4262_7:92734435-92734435 ->CAT_SECQYDYFQIKMMQNYNNKIWEQSK
9:70999368-70999368 A>G	0.0	4262	COLON	-	-	-	-	PGM5	uc004agr.3,p.E160G|ENST00000396396,p.E160G|ENST00000396392,p.E160G|NM_021965,p.E160G	retained_intron, protein_coding, processed_transcript	uc004agr.3	nonsynonymous SNV	exon3	c.A479G	p.E160G	VSDKIYQISKTIEEYAICPDLRIDL	VSDKIYQISKTIGEYAICPDLRIDL	6.0	3.0	-	-	4262_9:70999368-70999368 A>G_VSDKIYQISKTIGEYAICPDLRIDL
19:39228145-39228145 A>C	1.0	4262	COLON	-	-	-	-	CAPN12	NM_144691,p.F367V|ENST00000601953,p.F218V|ENST00000328867,p.F367V|uc002ojd.1,p.F367V	retained_intron, protein_coding, nonsense_mediated_decay	uc002ojd.1	nonsynonymous SNV	exon9	c.T1099G	p.F367V	HVHTFQGRWVRGFNSGGSQPNAETF	HVHTFQGRWVRGVNSGGSQPNAETF	7.0	3.0	-	-	4262_19:39228145-39228145 A>C_HVHTFQGRWVRGVNSGGSQPNAETF
13:42303767-42303767 T>G	1.0	4262	COLON	-	-	-	-	VWA8	ENST00000379310,p.D850A|ENST00000281496,p.D850A|NM_001009814,p.D850A|NM_015058,p.D850A|uc001uyk.3,p.D850A|uc001uyj.3,p.D850A	protein_coding, processed_transcript	uc001uyk.3	nonsynonymous SNV	exon23	c.A2549C	p.D850A	VKLGHILVVDEADKAPTNVTCILKT	VKLGHILVVDEAAKAPTNVTCILKT	9.0	2.0	-	-	4262_13:42303767-42303767 T>G_VKLGHILVVDEAAKAPTNVTCILKT
14:39555055-39555055 G>T	1.0	4262	COLON	-	-	-	-	SEC23A	ENST00000545328,p.L218I|ENST00000537403,p.L45I|ENST00000307712,p.L247I|uc010tqa.1,p.L109I|uc010tqb.1,p.L218I|ENST00000536508,p.L121I|uc010tqc.1,p.L109I|NM_006364,p.L247I|uc001wup.1,p.L247I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tqc.1	nonsynonymous SNV	exon3	c.C325A	p.L109I	KIDMNLTDLLGELQRDPWPVPQGKR	KIDMNLTDLLGEIQRDPWPVPQGKR	10.0	5.0	-	-	4262_14:39555055-39555055 G>T_KIDMNLTDLLGEIQRDPWPVPQGKR
6:51920413-51920413 T>G	0.0	4262	COLON	-	-	-	-	PKHD1	uc003pai.3,p.K603T|uc003pah.1,p.K603T|ENST00000371117,p.K603T|NM_170724,p.K603T|ENST00000340994,p.K603T|NM_138694,p.K603T	protein_coding	uc003pai.3	nonsynonymous SNV	exon19	c.A1808C	p.K603T	PRHLVLTPPAAQKGYRLDQYTHLCL	PRHLVLTPPAAQTGYRLDQYTHLCL	6.0	6.0	-	-	4262_6:51920413-51920413 T>G_PRHLVLTPPAAQTGYRLDQYTHLCL
5:13792113-13792113 T>G	0.0	4262	COLON	-	-	-	-	DNAH5	ENST00000265104,p.K2813T|uc003jfd.2,p.K2813T|NM_001369,p.K2813T	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon50	c.A8438C	p.K2813T	WQGMLNTTSEVIKEPNDLLKLWKHE	WQGMLNTTSEVITEPNDLLKLWKHE	5.0	3.0	-	-	4262_5:13792113-13792113 T>G_WQGMLNTTSEVITEPNDLLKLWKHE
21:46888614-46888614 G>A	0.0	4262	COLON	-	-	-	-	COL18A1	ENST00000400337,p.A189T|uc002zhi.3,p.A369T|ENST00000355480,p.A369T|uc002zhg.3,p.A189T|ENST00000359759,p.A604T|NM_130445,p.A189T|NM_030582,p.A369T	retained_intron, protein_coding, processed_transcript	uc002zhi.3	nonsynonymous SNV	exon2	c.G1105A	p.A369T	YVDCEEFQRMPLARSSRGLELEPGA	YVDCEEFQRMPLTRSSRGLELEPGA	9.0	6.0	-	-	4262_21:46888614-46888614 G>A_YVDCEEFQRMPLTRSSRGLELEPGA
1:6662448-6662448 A>C	1.0	4262	COLON	-	-	-	-	KLHL21	NM_014851,p.F144V|ENST00000377663,p.F144V|ENST00000377658,p.F144V|uc001anz.1,p.F144V|uc001aoa.3,p.F144V	protein_coding	uc001aoa.3	nonsynonymous SNV	exon1	c.T430G	p.F144V	QLDLANCLDMQDFAEAFSCSGLASA	QLDLANCLDMQDVAEAFSCSGLASA	6.0	2.0	-	-	4262_1:6662448-6662448 A>C_QLDLANCLDMQDVAEAFSCSGLASA
11:1782580-1782580 T>C	1.0	4262	COLON	-	-	-	-	CTSD	ENST00000236671,p.T63A|uc001luc.2,p.T63A|ENST00000438213,p.T48A|ENST00000433655,p.T63A|ENST00000367196,p.T28A|NM_001909,p.T63A	retained_intron, protein_coding, nonsense_mediated_decay	uc001luc.2	nonsynonymous SNV	exon2	c.A187G	p.T63A	PVSKYSQAVPAVTEGPIPEVLKNYM	PVSKYSQAVPAVAEGPIPEVLKNYM	10.0	10.0	-	-	4262_11:1782580-1782580 T>C_PVSKYSQAVPAVAEGPIPEVLKNYM
12:8926130-8926130 C>T	0.0	4262	COLON	-	-	-	-	RIMKLB	ENST00000357529,p.A304V|uc010sgl.1,p.A304V|ENST00000538135,p.A304V|NM_020734,p.A304V|uc001qux.2,p.A304V|NM_001297776,p.A304V|ENST00000535829,p.A304V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgl.1	nonsynonymous SNV	exon6	c.C911T	p.A304V	NLDVAGIIADYAASLLPSGRLTRRM	NLDVAGIIADYAVSLLPSGRLTRRM	7.0	8.0	-	-	4262_12:8926130-8926130 C>T_NLDVAGIIADYAVSLLPSGRLTRRM
3:32032373-32032373 A>T	1.0	4262	COLON	-	-	-	-	ZNF860	uc011axg.2,p.K601I|ENST00000360311,p.K601I|NM_001137674,p.K601I|uc021wuv.1,p.K601I	protein_coding, processed_transcript	uc021wuv.1	nonsynonymous SNV	exon1	c.A1802T	p.K601I	MGEKHHKCDDCGKAFTSHSHRIRHQ	MGEKHHKCDDCGIAFTSHSHRIRHQ	7.0	6.0	unscreened	-	4262_3:32032373-32032373 A>T_MGEKHHKCDDCGIAFTSHSHRIRHQ
6:109837170-109837170 G>A	1.0	4262	COLON	-	-	ID=COSM1072018;OCCURENCE=1(endometrium)	-	AK9	NM_001145128,p.R1319C|uc003ptn.2,p.R1319C|ENST00000424296,p.R1319C	retained_intron, protein_coding	uc003ptn.2	nonsynonymous SNV	exon31	c.C3955T	p.R1319C	TLNMKLKPLVENRASIFEKCHPIPA	TLNMKLKPLVENCASIFEKCHPIPA	8.0	10.0	-	-	4262_6:109837170-109837170 G>A_TLNMKLKPLVENCASIFEKCHPIPA
16:31050919-31050919 C>T	1.0	4262	COLON	-	-	-	-	STX4	uc002eal.4,p.R254C|ENST00000313843,p.R254C|uc002eak.4,p.R252C|uc002eam.4,p.R176C|NM_001272095,p.R176C|NM_001272096,p.R252C|ENST00000394998,p.R252C|NM_004604,p.R254C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eam.4	nonsynonymous SNV	exon8	c.C526T	p.R176C	EKNILSSADYVERGQEHVKTALENQ	EKNILSSADYVECGQEHVKTALENQ	9.0	10.0	-	-	4262_16:31050919-31050919 C>T_EKNILSSADYVECGQEHVKTALENQ
X:114082601-114082601 G>A	0.0	4262	COLON	-	-	-	-	HTR2C	uc004epu.1,p.V129I|uc010nqc.1,p.V129I|uc004epv.1,p.V129I|NM_000868,p.V129I|NM_001256761,p.V129I|ENST00000276198,p.V129I|ENST00000371951,p.V129I|NM_001256760,p.V129I|ENST00000371950,p.V129I	protein_coding	uc010nqc.1	nonsynonymous SNV	exon6	c.G385A	p.V129I	DYVWPLPRYLCPVWISLDVLFSTAS	DYVWPLPRYLCPIWISLDVLFSTAS	3.0	10.0	-	-	4262_X:114082601-114082601 G>A_DYVWPLPRYLCPIWISLDVLFSTAS
10:33496607-33496607 A>C	0.0	4262	COLON	-	-	-	-	NRP1	uc001iww.4,p.L370R|uc001ixa.2,p.L551R|ENST00000374816,p.L551R|ENST00000265371,p.L551R|uc001iwz.2,p.L551R|ENST00000374821,p.L551R|ENST00000374875,p.L370R|uc001ixb.2,p.L551R|NM_001244973,p.L551R|ENST00000374822,p.L551R|NM_001024629,p.L551R|ENST00000395995,p.L551R|NM_001024628,p.L551R|uc001iwy.4,p.L551R|NM_001244972,p.L551R|ENST00000374823,p.L551R|NM_003873,p.L551R|uc001iwv.4,p.L551R|uc009xlz.3,p.L551R|uc001iwx.4,p.L551R|ENST00000374867,p.L551R	protein_coding, processed_transcript	uc009xlz.3	nonsynonymous SNV	exon10	c.T1652G	p.L551R	SFEGNNNYDTPELRTFPALSTRFIR	SFEGNNNYDTPERRTFPALSTRFIR	8.0	1.0	-	-	4262_10:33496607-33496607 A>C_SFEGNNNYDTPERRTFPALSTRFIR
7:26232981-26232981 C>G	1.0	4262	COLON	-	-	-	1	HNRNPA2B1	uc003sxs.4,p.S285T|NM_031243,p.S297T|ENST00000354667,p.S297T|NM_002137,p.S285T|ENST00000356674,p.S285T|ENST00000360787,p.S297T|uc003sxr.4,p.S297T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003sxs.4	nonsynonymous SNV	exon9	c.G854C	p.S285T	GGYDNYGGGNYGSGNYNDFGNYNQQ	GGYDNYGGGNYGTGNYNDFGNYNQQ	10.0	8.0	-	-	4262_7:26232981-26232981 C>G_GGYDNYGGGNYGTGNYNDFGNYNQQ
19:11624639-11624639 A>C	1.0	4262	COLON	-	-	-	-	ECSIT	ENST00000591104,p.L165R|NM_001142464,p.L165R|ENST00000592665,p.L49R|NM_016581,p.L165R|ENST00000592312,p.L49R|uc010dyc.2,p.L165R|ENST00000585318,p.L49R|uc002msb.3,p.L165R|ENST00000252440,p.L165R|uc010dyd.3,p.L165R|ENST00000590480,p.L165R|NM_001243204,p.L165R|ENST00000270517,p.L165R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dyd.3	nonsynonymous SNV	exon3	c.T494G	p.L165R	HYPRQQECGIAVLEQMENHGVMPNK	HYPRQQECGIAVREQMENHGVMPNK	8.0	5.0	-	-	4262_19:11624639-11624639 A>C_HYPRQQECGIAVREQMENHGVMPNK
4:15575899-15575899 T>G	0.0	4262	COLON	-	-	-	-	CC2D2A	ENST00000503292,p.F1241V|NM_001080522,p.F1241V|uc010idv.2,p.F1241V|ENST00000424120,p.F1241V|ENST00000413206,p.F1241V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010idv.2	nonsynonymous SNV	exon30	c.T3721G	p.F1241V	VRSLSEGSYITLFITIEPQLVPGES	VRSLSEGSYITLVITIEPQLVPGES	7.0	3.0	-	-	4262_4:15575899-15575899 T>G_VRSLSEGSYITLVITIEPQLVPGES
4:84379532-84379532 C>G	1.0	4262	COLON	-	-	-	-	MRPS18C	uc003hor.4,p.L62V|ENST00000295491,p.L62V|NM_016067,p.L62V|NM_001297769,p.L62V|ENST00000505719,p.L58V	retained_intron, protein_coding, processed_transcript	uc003hor.4	nonsynonymous SNV	exon3	c.C184G	p.L62V	LPISMENPYKEPLKKCILCGKHVDY	LPISMENPYKEPVKKCILCGKHVDY	10.0	9.0	-	-	4262_4:84379532-84379532 C>G_LPISMENPYKEPVKKCILCGKHVDY
15:78635947-78635947 T>G	0.0	4262	COLON	-	-	-	-	CRABP1	NM_004378,p.L119R|uc002bdp.2,p.L119R|ENST00000299529,p.L119R	retained_intron, protein_coding, nonsense_mediated_decay	uc002bdp.2	nonsynonymous SNV	exon3	c.T356G	p.L119R	KTYWTRELANDELILTFGADDVVCT	KTYWTRELANDERILTFGADDVVCT	5.0	1.0	-	-	4262_15:78635947-78635947 T>G_KTYWTRELANDERILTFGADDVVCT
6:132892125-132892125 T>G	0.0	4262	COLON	-	-	-	-	TAAR6	NM_175067,p.L222R|uc011eck.2,p.L222R|ENST00000275198,p.L222R	protein_coding	uc011eck.2	nonsynonymous SNV	exon1	c.T665G	p.L222R	TFIMIILYGNIFLVARRQAKKIENT	TFIMIILYGNIFRVARRQAKKIENT	5.0	3.0	-	-	4262_6:132892125-132892125 T>G_TFIMIILYGNIFRVARRQAKKIENT
20:53092543-53092543 C>T	0.0	4262	COLON	-	-	ID=COSM3740188;OCCURENCE=1(liver)	-	DOK5	ENST00000262593,p.R20C|uc002xwy.3,p.R20C|NM_018431,p.R20C	protein_coding, processed_transcript	uc002xwy.3	nonsynonymous SNV	exon1	c.C58T	p.R20C	IVKQGYVRIRSRRLGIYQRCWLVFK	IVKQGYVRIRSRCLGIYQRCWLVFK	4.0	5.0	-	-	4262_20:53092543-53092543 C>T_IVKQGYVRIRSRCLGIYQRCWLVFK
9:1051854-1051854 ->G	0.0	4262	COLON	-	-	-	-	DMRT2	NM_006557,p.R81fs|ENST00000358146,p.R81fs|NM_181872,p.R81fs|uc022bcw.1,p.R81fs|ENST00000412350,p.R81fs|uc003zha.3,p.R81fs|ENST00000382251,p.R81fs|ENST00000382255,p.R81fs|NM_001130865,p.R81fs|uc011llv.2,p.R81fs|uc003zhb.4,p.R81fs|uc011llt.2,p.R81fs|ENST00000259622,p.R81fs|ENST00000302441,p.R81fs	protein_coding	uc022bcw.1	frameshift insertion	exon2	c.242dupG	p.R81fs	GASPGMPGQPEQRGGPQPRPPLAPQ	GASPGMPGQPEQRGGTAAEAAARASGLTRRHRSPRALHSRGRRRGAAQAEPHAQVRALPQPRRGVLPEGPQALLSLARLPVRQLPAGGGAAARHGRPGGAPEAAGHRGQEGAFRETE	4.0	10.0	-	-	4262_9:1051854-1051854 ->G_GASPGMPGQPEQRGGTAAEAAARASGLTRRHRSPRALHSRGRRRGAAQAEPHAQVRALPQPRRGVLPEGPQALLSLARLPVRQLPAGGGAAARHGRPGGAPEAAGHRGQEGAFRETE
11:6190646-6190646 C>A	0.0	4262	COLON	-	-	-	-	OR52B2	uc010qzy.2,p.G304V|NM_001004052,p.G304V|ENST00000530810,p.G304V	protein_coding	uc010qzy.2	nonsynonymous SNV	exon1	c.G911T	p.G304V	IVYGVKTKQIREGVAHRFFDIKTWC	IVYGVKTKQIREVVAHRFFDIKTWC	1.0	2.0	-	-	4262_11:6190646-6190646 C>A_IVYGVKTKQIREVVAHRFFDIKTWC
X:22266056-22266056 T>G	0.0	4262	COLON	-	-	-	-	PHEX	uc011mjs.2,p.C649G|NM_000444,p.C746G|ENST00000418858,p.C449G|ENST00000379374,p.C746G|uc004dah.3,p.C746G|ENST00000535894,p.C649G	protein_coding, processed_transcript	uc011mjs.2	nonsynonymous SNV	exon21	c.T1945G	p.C649G	PPNSTMNRGMDSCRLW	PPNSTMNRGMDSGRLW	5.0	4.0	-	-	4262_X:22266056-22266056 T>G_PPNSTMNRGMDSGRLW
1:228529858-228529858 G>A	0.0	4262	COLON	-	-	-	-	OBSCN	ENST00000366707,p.A3659T|NM_001271223,p.A6982T|NM_001098623,p.A6025T|uc001hsn.4,p.A6025T|ENST00000284548,p.A6025T|uc001hsr.1,p.A654T|ENST00000422127,p.A6025T|NM_052843,p.A6025T|uc009xez.2,p.A6025T|uc001hsq.2,p.A6982T|ENST00000570156,p.A6982T|ENST00000366709,p.A3144T	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon75	c.G18073A	p.A6025T	PPDFEEELADCTAELGETVKLACRV	PPDFEEELADCTTELGETVKLACRV	8.0	5.0	-	-	4262_1:228529858-228529858 G>A_PPDFEEELADCTTELGETVKLACRV
16:705456-705456 C>T	1.0	4262	COLON	-	-	-	-	WDR90	ENST00000293879,p.S569L|uc002cik.1,p.S96L|uc002cig.1,p.S569L|NM_145294,p.S569L|uc002cii.1,p.S569L|ENST00000549091,p.S569L|uc002cih.1,p.S570L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cik.1	nonsynonymous SNV	exon1	c.C287T	p.S96L	AFKQARDGCPEPSAAMLFVCSRSGH	AFKQARDGCPEPLAAMLFVCSRSGH	9.0	8.0	-	-	4262_16:705456-705456 C>T_AFKQARDGCPEPLAAMLFVCSRSGH
11:67432027-67432027 G>A	0.0	4262	COLON	-	-	-	-	ALDH3B2	NM_001031615,p.T238M|uc001oms.3,p.T238M|uc001omr.3,p.T238M|uc009ysa.1,p.T238M|ENST00000530069,p.T238M|ENST00000349015,p.T238M|NM_000695,p.T238M	retained_intron, protein_coding, processed_transcript	uc009ysa.1	nonsynonymous SNV	exon8	c.C713T	p.T238M	GQSNESDRYIAPTVLVDVQETEPVM	GQSNESDRYIAPMVLVDVQETEPVM	3.0	9.0	-	-	4262_11:67432027-67432027 G>A_GQSNESDRYIAPMVLVDVQETEPVM
2:96780729-96780729 C>G	0.0	4262	COLON	-	-	-	-	ADRA2B	ENST00000409345,p.S387T	protein_coding	ENST00000409345	nonsynonymous SNV	exon1	c.G1160C	p.S387T	GVFVLCWFPFFFSYSLGAICPKHCK	GVFVLCWFPFFFTYSLGAICPKHCK	3.0	6.0	-	-	4262_2:96780729-96780729 C>G_GVFVLCWFPFFFTYSLGAICPKHCK
9:78790139-78790158 AATGGAATGGAATGAAATGG>-	0.0	4262	COLON	-	-	-	-	PCSK5	uc004ajy.2,p.K665fs|ENST00000376767,p.K665fs	protein_coding	uc004ajy.2	frameshift deletion	exon14	c.1994_2013del	p.K665fs	TTWENRMEWNGMKWNGMKWNGMEWN	TTWENRMEWNGMKWNGMEWNGMESNRIESNRI	6.0	9.0	unscreened	-	4262_9:78790139-78790158 AATGGAATGGAATGAAATGG>-_TTWENRMEWNGMKWNGMEWNGMESNRIESNRI
12:70004116-70004116 T>G	0.0	4262	COLON	-	-	-	-	LRRC10	ENST00000361484,p.E168A|NM_201550,p.E168A|uc001svc.3,p.E168A	protein_coding	uc001svc.3	nonsynonymous SNV	exon1	c.A503C	p.E168A	LRLLPGQLRRLQELRTIWLSGNRLT	LRLLPGQLRRLQALRTIWLSGNRLT	1.0	10.0	-	-	4262_12:70004116-70004116 T>G_LRLLPGQLRRLQALRTIWLSGNRLT
9:125154674-125154674 G>A	0.0	4262	COLON	-	-	-	-	PTGS1	uc011lys.2,p.G489S|NM_001271367,p.G405S|ENST00000362012,p.G551S|NM_001271166,p.G405S|NM_001271165,p.G442S|ENST00000540753,p.G489S|NM_001271164,p.G503S|ENST00000373698,p.G442S|uc004bmh.2,p.G442S|uc011lyt.2,p.G442S|uc031tey.1,p.G503S|NM_001271368,p.G489S|ENST00000223423,p.G514S|uc004bmg.2,p.G551S|uc010mwb.2,p.G405S|NM_000962,p.G551S|NM_080591,p.G514S|uc004bmf.2,p.G514S|uc031tez.1,p.G405S	protein_coding	uc031tez.1	nonsynonymous SNV	exon11	c.G1213A	p.G405S	CSPEYWKPSTFGGEVGFNIVKTATL	CSPEYWKPSTFGSEVGFNIVKTATL	5.0	7.0	-	-	4262_9:125154674-125154674 G>A_CSPEYWKPSTFGSEVGFNIVKTATL
6:155774562-155774562 C>T	0.0	4262	COLON	-	-	-	-	NOX3	ENST00000159060,p.A106T|uc003qqm.3,p.A106T|NM_015718,p.A106T	protein_coding	uc003qqm.3	nonsynonymous SNV	exon4	c.G316A	p.A106T	QLDKNLRFHKLVAYGIAVNATIHIV	QLDKNLRFHKLVTYGIAVNATIHIV	1.0	10.0	-	-	4262_6:155774562-155774562 C>T_QLDKNLRFHKLVTYGIAVNATIHIV
18:6301928-6301928 T>A	1.0	4262	COLON	-	-	-	-	L3MBTL4	ENST00000581231,p.K34M|ENST00000400104,p.K34M|uc010dkt.3,p.K34M|ENST00000400105,p.K34M|uc002kmy.4,p.K34M|ENST00000583054,p.K34M|ENST00000317931,p.K34M|NM_173464,p.K34M|ENST00000583809,p.K34M|uc002kmz.4,p.K34M|ENST00000284898,p.K34M	protein_coding, processed_transcript	uc010dkt.3	nonsynonymous SNV	exon4	c.A101T	p.K34M	GRLEQAEEEKKPKDSTTPLSHVPSA	GRLEQAEEEKKPMDSTTPLSHVPSA	6.0	1.0	-	-	4262_18:6301928-6301928 T>A_GRLEQAEEEKKPMDSTTPLSHVPSA
3:132423190-132423190 T>G	1.0	4262	COLON	-	-	-	-	NPHP3	uc003epf.2,p.D214A|ENST00000326682,p.D459A|ENST00000337331,p.D459A|ENST00000465756,p.D361A|uc003epe.2,p.D459A|ENST00000471702,p.D459A|NM_153240,p.D459A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003epf.2	nonsynonymous SNV	exon10	c.A641C	p.D214A	IIKQDILGFENTDLETKDLGSEDSI	IIKQDILGFENTALETKDLGSEDSI	8.0	4.0	-	-	4262_3:132423190-132423190 T>G_IIKQDILGFENTALETKDLGSEDSI
16:67318938-67318938 T>A	1.0	4262	COLON	-	-	-	-	PLEKHG4	uc002ess.4,p.L672Q|ENST00000379344,p.L672Q|NM_001129731,p.L591Q|uc002esq.4,p.L672Q|NM_015432,p.L672Q|uc010cef.3,p.L672Q|uc002esp.4,p.L479Q|NM_001129729,p.L672Q|NM_001129728,p.L672Q|ENST00000450733,p.L591Q|ENST00000427155,p.L672Q|ENST00000360461,p.L672Q|NM_001129727,p.L672Q|uc010ceg.3,p.L591Q|uc002eso.4,p.L672Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010ceg.3	nonsynonymous SNV	exon11	c.T1772A	p.L591Q	VSQVPAAPAHPPLRKAYSFDRNLGQ	VSQVPAAPAHPPQRKAYSFDRNLGQ	8.0	10.0	-	-	4262_16:67318938-67318938 T>A_VSQVPAAPAHPPQRKAYSFDRNLGQ
7:43482197-43482197 C>A	0.0	4262	COLON	-	-	-	-	HECW1	NM_001287059,p.F338L|uc003tid.1,p.F338L|NM_015052,p.F338L|uc011kbi.1,p.F338L|ENST00000395891,p.F338L|ENST00000453890,p.F338L	protein_coding, processed_transcript	uc011kbi.1	nonsynonymous SNV	exon9	c.C1014A	p.F338L	RLPTDHVSGQLQFRFEITSSIHPDD	RLPTDHVSGQLQLRFEITSSIHPDD	4.0	5.0	-	-	4262_7:43482197-43482197 C>A_RLPTDHVSGQLQLRFEITSSIHPDD
11:111784288-111784288 A>C	0.0	4262	COLON	-	-	-	-	HSPB2	uc001pmg.2,p.K73T|ENST00000304298,p.K73T|NM_001541,p.K73T|ENST00000527616,p.K73T|ENST00000537382,p.K73T	protein_coding	uc001pmg.2	nonsynonymous SNV	exon2	c.A218C	p.K73T	RAGASELRLSEGKFQAFLDVSHFTP	RAGASELRLSEGTFQAFLDVSHFTP	5.0	2.0	-	-	4262_11:111784288-111784288 A>C_RAGASELRLSEGTFQAFLDVSHFTP
12:25398284-25398284 C>G	1.0	4262	COLON	-	-	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	ENST00000256078,p.G12A|NM_033360,p.G12A|ENST00000557334,p.G12A|ENST00000556131,p.G12A|uc001rgq.1,p.G12A|ENST00000311936,p.G12A|uc001rgp.1,p.G12A|NM_004985,p.G12A	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35C	p.G12A	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGAAGVGKSALTIQLI	7.0	10.0	-	-	4262_12:25398284-25398284 C>G_MTEYKLVVVGAAGVGKSALTIQLI
8:24772237-24772237 C>T	0.0	4262	COLON	-	-	-	-	NEFM	NM_005382,p.R311C|ENST00000221166,p.R311C|uc011lac.1,p.R311C|ENST00000518131,p.R311C|ENST00000437366,p.R311C|uc003xed.4,p.R311C	protein_coding, processed_transcript	uc011lac.1	nonsynonymous SNV	exon1	c.C931T	p.R311C	LTEAAEQNKEAIRSAKEEIAEYRRQ	LTEAAEQNKEAICSAKEEIAEYRRQ	4.0	8.0	-	-	4262_8:24772237-24772237 C>T_LTEAAEQNKEAICSAKEEIAEYRRQ
8:114186064-114186064 T>C	0.0	4262	COLON	-	-	-	2	CSMD3	NM_198123,p.K199R|ENST00000455883,p.K199R|NM_052900,p.K199R|uc003ynt.3,p.K159R|ENST00000297405,p.K199R|uc003ynu.3,p.K199R|uc011lhx.2,p.K199R|ENST00000343508,p.K159R|NM_198124,p.K159R|uc010mcx.1,p.K199R|ENST00000352409,p.K199R	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon4	c.A596G	p.K199R	GVLYGTRFDVGDKIRYSCVTGYILD	GVLYGTRFDVGDRIRYSCVTGYILD	4.0	1.0	-	-	4262_8:114186064-114186064 T>C_GVLYGTRFDVGDRIRYSCVTGYILD
3:126708479-126708479 G>A	1.0	4262	COLON	-	-	-	-	PLXNA1	NM_032242,p.R348H|ENST00000393409,p.R348H|uc003ejg.3,p.R348H|ENST00000251772,p.R325H	retained_intron, protein_coding, processed_transcript	uc003ejg.3	nonsynonymous SNV	exon1	c.G1043A	p.R348H	VLFTVFAQGQKNRVKPPKESALCLF	VLFTVFAQGQKNHVKPPKESALCLF	8.0	10.0	-	-	4262_3:126708479-126708479 G>A_VLFTVFAQGQKNHVKPPKESALCLF
19:3907815-3907815 G>A	0.0	4262	COLON	-	-	ID=COSM1183866,COSM1183867;OCCURENCE=1(large_intestine)	-	ATCAY	ENST00000450849,p.A148T|ENST00000600960,p.A148T|NM_033064,p.A148T|ENST00000398448,p.A154T|uc002lyy.4,p.A148T|ENST00000301260,p.A148T|uc010xhz.2,p.A154T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xhz.2	nonsynonymous SNV	exon6	c.G460A	p.A154T	DLFGDGTTEDGSAANGRLWRTVIIG	DLFGDGTTEDGSTANGRLWRTVIIG	1.0	6.0	-	-	4262_19:3907815-3907815 G>A_DLFGDGTTEDGSTANGRLWRTVIIG
3:154146783-154146783 G>A	0.0	4262	COLON	-	-	-	-	GPR149	NM_001038705,p.L208F|ENST00000389740,p.L208F|uc003faa.3,p.L208F	protein_coding	uc003faa.3	nonsynonymous SNV	exon1	c.C622T	p.L208F	IVYALAFGLLVGLSVPLTHRLLCSE	IVYALAFGLLVGFSVPLTHRLLCSE	3.0	9.0	-	-	4262_3:154146783-154146783 G>A_IVYALAFGLLVGFSVPLTHRLLCSE
9:113538240-113538240 C>A	0.0	4262	COLON	-	-	-	-	MUSK	ENST00000374438,p.S44Y	protein_coding	ENST00000374438	nonsynonymous SNV	exon1	c.C131A	p.S44Y	ALGPHGLCQTATSRESAAVTLTTLP	ALGPHGLCQTATYRESAAVTLTTLP	2.0	4.0	unscreened	-	4262_9:113538240-113538240 C>A_ALGPHGLCQTATYRESAAVTLTTLP
16:15835402-15835402 T>A	0.0	4262	COLON	-	-	-	1	MYH11	uc002ddy.3,p.E926V|uc010bvg.3,p.E758V|ENST00000300036,p.E926V|ENST00000452625,p.E933V|ENST00000396324,p.E933V|NM_001040113,p.E933V|uc002ddv.3,p.E933V|uc002ddx.3,p.E933V|NM_002474,p.E926V|ENST00000576790,p.E926V|ENST00000338282,p.E926V|NM_022844,p.E926V|uc002ddw.3,p.E926V|NM_001040114,p.E933V	retained_intron, protein_coding, processed_transcript	uc010bvg.3	nonsynonymous SNV	exon23	c.A2273T	p.E758V	AAKKQELEEILHEMEARLEEEEDRG	AAKKQELEEILHVMEARLEEEEDRG	8.0	7.0	-	-	4262_16:15835402-15835402 T>A_AAKKQELEEILHVMEARLEEEEDRG
14:24550761-24550761 G>C	1.0	4262	COLON	-	-	-	-	NRL	uc021rrk.1,p.F40L	protein_coding	uc021rrk.1	nonsynonymous SNV	exon2	c.C120G	p.F40L	RPPDWSNAGRAVFRRGAGLDVCAGA	RPPDWSNAGRAVLRRGAGLDVCAGA	4.0	8.0	-	-	4262_14:24550761-24550761 G>C_RPPDWSNAGRAVLRRGAGLDVCAGA
4:138453013-138453013 A>C	0.0	4262	COLON	-	-	-	-	PCDH18	NM_019035,p.L77R|NM_001300828,p.L77R|ENST00000344876,p.L77R|uc003ihf.4,p.L70R|ENST00000412923,p.L77R|uc003ihe.4,p.L77R	protein_coding	uc003ihf.4	nonsynonymous SNV	exon1	c.T209G	p.L70R	RFRAMQRGNSPLLVVNEDNGEISIG	RFRAMQRGNSPLRVVNEDNGEISIG	6.0	1.0	-	-	4262_4:138453013-138453013 A>C_RFRAMQRGNSPLRVVNEDNGEISIG
17:7577090-7577090 C>G	1.0	4262	COLON	-	-	ID=COSM10743,COSM99941,COSM1646817;OCCURENCE=3(urinary_tract),1(pancreas),2(liver),2(breast),10(lung),1(oesophagus),4(upper_aerodigestive_tract),1(central_nervous_system)	1	TP53	NM_001276698,p.R124P|NM_001126117,p.R151P|ENST00000269305,p.R283P|NM_001276696,p.R244P|NM_001276699,p.R124P|NM_001276760,p.R244P|NM_001126113,p.R283P|uc002gii.2,p.R124P|NM_001126114,p.R283P|ENST00000420246,p.R283P|NM_001276761,p.R244P|ENST00000359597,p.R283P|uc031qyq.1,p.R244P|NM_000546,p.R283P|uc002gih.3,p.R283P|NM_001126118,p.R244P|NM_001126112,p.R283P|ENST00000509690,p.R151P|NM_001276695,p.R244P|uc010cng.2,p.R124P|NM_001126116,p.R151P|uc002gij.3,p.R244P|NM_001126115,p.R151P|ENST00000445888,p.R283P|uc010cnf.2,p.R124P|NM_001276697,p.R124P|ENST00000455263,p.R283P	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon7	c.G731C	p.R244P	EVRVCACPGRDRRTEEENLRKKGEP	EVRVCACPGRDRPTEEENLRKKGEP	10.0	10.0	-	-	4262_17:7577090-7577090 C>G_EVRVCACPGRDRPTEEENLRKKGEP
2:179613530-179613530 T>G	0.0	4262	COLON	-	-	-	-	TTN	NM_133379,p.K4533Q|uc002unb.3,p.K4533Q|ENST00000360870,p.K4533Q	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.A13597C	p.K4533Q	TESDSSNIAINLKLLSSQTHKEFDA	TESDSSNIAINLQLLSSQTHKEFDA	6.0	1.0	-	-	4262_2:179613530-179613530 T>G_TESDSSNIAINLQLLSSQTHKEFDA
1:243328110-243328110 G>A	0.0	4262	COLON	-	rs77699926	-	-	CEP170	uc021plq.1,p.P953L|ENST00000366542,p.P1051L|uc021plp.1,p.P953L|uc021plo.1,p.P1051L|NM_001042405,p.P953L|ENST00000366544,p.P953L|NM_014812,p.P1051L|ENST00000366543,p.P953L|NM_001042404,p.P953L|uc001hzv.1,p.P429L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021plq.1	nonsynonymous SNV	exon12	c.C2858T	p.P953L	IMSSDQETYSCKPHGRTPLTSADEH	IMSSDQETYSCKLHGRTPLTSADEH	8.0	5.0	unscreened	-	4262_1:243328110-243328110 G>A_IMSSDQETYSCKLHGRTPLTSADEH
2:210786348-210786348 C>T	0.0	4262	COLON	-	-	-	-	UNC80	uc010zjc.1,p.P1757L|NM_032504,p.P1757L|uc002vdk.2,p.P918L|NM_182587,p.P1752L|ENST00000272845,p.P1752L|uc021vvx.1,p.P1752L|ENST00000439458,p.P1757L	retained_intron, protein_coding, processed_transcript	uc021vvx.1	nonsynonymous SNV	exon33	c.C5255T	p.P1752L	RLGREASLITAIPITQEACYEPTCT	RLGREASLITAILITQEACYEPTCT	2.0	8.0	-	-	4262_2:210786348-210786348 C>T_RLGREASLITAILITQEACYEPTCT
6:46659250-46659250 G>C	0.0	4262	COLON	-	-	-	-	TDRD6	uc003oyj.3,p.V1129L|ENST00000316081,p.V1129L|ENST00000544460,p.V1129L|uc010jze.3,p.V1129L|NM_001168359,p.V1129L|NM_001010870,p.V1129L	protein_coding	uc010jze.3	nonsynonymous SNV	exon1	c.G3385C	p.V1129L	ETILDKSLKALVVAKDPDGTLIIEL	ETILDKSLKALVLAKDPDGTLIIEL	4.0	9.0	-	-	4262_6:46659250-46659250 G>C_ETILDKSLKALVLAKDPDGTLIIEL
20:23966379-23966379 C>A	0.0	4262	COLON	-	-	-	-	GGTLC1	ENST00000335694,p.K152N|uc002wts.3,p.K152N|NM_178312,p.K152N|ENST00000286890,p.K152N|NM_178311,p.K152N|ENST00000278765,p.K152N|uc002wtu.3,p.K152N	protein_coding	uc002wtu.3	nonsynonymous SNV	exon5	c.G456T	p.K152N	AIIYNLWFGYDVKWAVEEPRLHNQL	AIIYNLWFGYDVNWAVEEPRLHNQL	5.0	5.0	-	-	4262_20:23966379-23966379 C>A_AIIYNLWFGYDVNWAVEEPRLHNQL
4:144618224-144618224 T>G	0.0	4262	COLON	-	-	-	-	FREM3	NM_001168235,p.K1202T|ENST00000329798,p.K1202T|uc021xsj.1,p.K1202T	protein_coding, processed_transcript	uc021xsj.1	nonsynonymous SNV	exon1	c.A3605C	p.K1202T	NDEQPKLFAHEFKVLEGMSLVIDTQ	NDEQPKLFAHEFTVLEGMSLVIDTQ	2.0	6.0	-	-	4262_4:144618224-144618224 T>G_NDEQPKLFAHEFTVLEGMSLVIDTQ
1:27875132-27875132 C>G	1.0	4262	COLON	-	-	-	-	AHDC1	NM_001029882,p.E1165D|uc009vsy.3,p.E1165D|ENST00000374011,p.E1165D|ENST00000247087,p.E1165D|uc021ojw.1,p.E1165D|uc009vsz.1,p.E1165D	protein_coding, processed_transcript	uc021ojw.1	nonsynonymous SNV	exon1	c.G3495C	p.E1165D	VKQQTAVSETFSESSSDSTQFNQPV	VKQQTAVSETFSDSSSDSTQFNQPV	5.0	8.0	-	-	4262_1:27875132-27875132 C>G_VKQQTAVSETFSDSSSDSTQFNQPV
7:123269106-123269106 C>T	0.0	4262	COLON	-	-	ID=COSM1319036;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	ASB15	ENST00000434204,p.A353V|ENST00000540573,p.A353V|ENST00000451558,p.A353V|ENST00000275699,p.A353V|NM_001290258,p.A353V|NM_080928,p.A353V|uc003vku.1,p.A353V|uc003vkw.1,p.A353V|ENST00000451215,p.A353V	protein_coding	uc003vkw.1	nonsynonymous SNV	exon8	c.C1058T	p.A353V	HISQSYDDERKTALYFGVSNNDVHC	HISQSYDDERKTVLYFGVSNNDVHC	1.0	1.0	unscreened	-	4262_7:123269106-123269106 C>T_HISQSYDDERKTVLYFGVSNNDVHC
10:124594329-124594329 T>G	0.0	4262	COLON	-	-	-	-	CUZD1	ENST00000545804,p.Q425H|uc001lgs.3,p.Q425H|uc001lgp.3,p.Q144H|uc009yaf.3,p.Q59H|uc001lgr.3,p.Q144H|ENST00000392790,p.Q425H|uc010qtz.2,p.Q425H|NM_022034,p.Q425H|uc009yae.3,p.Q144H|uc010qty.2,p.Q144H|uc009yad.3,p.Q144H|ENST00000368904,p.Q425H	protein_coding	uc010qtz.2	nonsynonymous SNV	exon9	c.A1275C	p.Q425H	PYYVDLNQTLFVQVSLHTSDPNLVV	PYYVDLNQTLFVHVSLHTSDPNLVV	2.0	1.0	-	-	4262_10:124594329-124594329 T>G_PYYVDLNQTLFVHVSLHTSDPNLVV
11:69589723-69589723 C>T	0.0	4262	COLON	-	-	-	-	FGF4	ENST00000168712,p.E44K|NM_002007,p.E44K|uc001opg.1,p.E44K|uc010rqj.1,p.E44K	protein_coding, processed_transcript	uc010rqj.1	nonsynonymous SNV	exon1	c.G130A	p.E44K	PTAPNGTLEAELERRWESLVALSLA	PTAPNGTLEAELKRRWESLVALSLA	1.0	9.0	-	-	4262_11:69589723-69589723 C>T_PTAPNGTLEAELKRRWESLVALSLA
5:56778248-56778248 C>T	0.0	4262	COLON	-	-	-	-	ACTBL2	NM_001017992,p.R96H|uc003jrm.3,p.R96H|ENST00000423391,p.R96H	protein_coding	uc003jrm.3	nonsynonymous SNV	exon1	c.G287A	p.R96H	EKIWYHTFYNELRVAPDEHPILLTE	EKIWYHTFYNELHVAPDEHPILLTE	4.0	9.0	-	-	4262_5:56778248-56778248 C>T_EKIWYHTFYNELHVAPDEHPILLTE
1:65068578-65068578 G>A	1.0	4262	COLON	-	-	-	-	CACHD1	ENST00000290039,p.G116E|uc001dbo.1,p.G116E|NM_020925,p.G116E|ENST00000371073,p.G167E	retained_intron, protein_coding, processed_transcript	uc001dbo.1	nonsynonymous SNV	exon4	c.G347A	p.G116E	LSTTVNSRAFNPGRDLNSVLADNLK	LSTTVNSRAFNPERDLNSVLADNLK	5.0	9.0	-	-	4262_1:65068578-65068578 G>A_LSTTVNSRAFNPERDLNSVLADNLK
5:140229753-140229753 A>G	1.0	4262	COLON	-	-	-	-	PCDHA9	NM_014005,p.E558G|ENST00000532602,p.E558G|ENST00000378122,p.E558G|NM_031857,p.E558G|uc003lhu.2,p.E558G|uc003lht.1,p.E558G	protein_coding	uc003lhu.2	nonsynonymous SNV	exon1	c.A1673G	p.E558G	GSNVTLQVFVLDENDNAPALLTPRM	GSNVTLQVFVLDGNDNAPALLTPRM	5.0	10.0	-	-	4262_5:140229753-140229753 A>G_GSNVTLQVFVLDGNDNAPALLTPRM
20:53092543-53092543 C>T	0.0	4262	COLON	-	-	ID=COSM3740188;OCCURENCE=1(liver)	-	DOK5	NM_001294161,p.R20C	protein_coding, processed_transcript	NM_001294161	nonsynonymous SNV	exon1	c.C58T	p.R20C	IVKQGYVRIRSRRLGVLILRALRSE	IVKQGYVRIRSRCLGVLILRALRSE	4.0	5.0	-	-	4262_20:53092543-53092543 C>T_IVKQGYVRIRSRCLGVLILRALRSE
14:62536447-62536447 A>T	0.0	4262	COLON	-	-	-	-	SYT16	NM_031914,p.K217M|ENST00000446982,p.K217M|uc010tsd.1,p.K217M|ENST00000555409,p.K217M|uc001xfu.1,p.K217M|ENST00000430451,p.K217M	protein_coding, nonsense_mediated_decay	uc010tsd.1	nonsynonymous SNV	exon3	c.A650T	p.K217M	SQSFRSVTSEKGKQTGLEQKPKFSR	SQSFRSVTSEKGMQTGLEQKPKFSR	1.0	1.0	-	-	4262_14:62536447-62536447 A>T_SQSFRSVTSEKGMQTGLEQKPKFSR
9:103213122-103213122 G>T	1.0	4262	COLON	-	-	ID=COSM1103280;OCCURENCE=1(endometrium)	-	MSANTD3	NM_080655,p.E234D|NM_001198806,p.E234D|uc004baw.3,p.E234D|NM_001198805,p.E234D|ENST00000395067,p.E234D|uc022bla.1,p.E234D|uc022blb.1,p.E234D	protein_coding, processed_transcript	uc022blb.1	nonsynonymous SNV	exon3	c.G702T	p.E234D	KIQQIERECEMAEEEHRIKMEVLNK	KIQQIERECEMADEEHRIKMEVLNK	7.0	6.0	-	-	4262_9:103213122-103213122 G>T_KIQQIERECEMADEEHRIKMEVLNK
1:21546615-21546615 A>C	1.0	4262	COLON	-	-	-	-	ECE1	NM_001113349,p.S713A|ENST00000357071,p.S704A|ENST00000264205,p.S713A|ENST00000415912,p.S700A|uc001bei.2,p.S713A|NM_001113348,p.S700A|uc001bej.2,p.S704A|ENST00000374893,p.S716A|NM_001113347,p.S704A|uc001bek.2,p.S716A|NM_001397,p.S716A|uc001bem.2,p.S700A	retained_intron, protein_coding, processed_transcript	uc001bem.2	nonsynonymous SNV	exon19	c.T2098G	p.S700A	QLFFLGFAQVWCSVRTPESSHEGLI	QLFFLGFAQVWCAVRTPESSHEGLI	9.0	3.0	-	-	4262_1:21546615-21546615 A>C_QLFFLGFAQVWCAVRTPESSHEGLI
8:113662424-113662424 G>T	0.0	4262	COLON	-	-	-	2	CSMD3	ENST00000343508,p.N1013K|ENST00000455883,p.N949K|uc003yns.3,p.N325K|uc011lhx.2,p.N949K|ENST00000297405,p.N1053K|ENST00000352409,p.N1053K|NM_052900,p.N949K|NM_198124,p.N1013K|NM_198123,p.N1053K|ENST00000339701,p.N393K|uc003ynt.3,p.N1013K|uc003ynu.3,p.N1053K	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon18	c.C2847A	p.N949K	RLSHEEPLLCEKNHWWSHPLPTCDA	RLSHEEPLLCEKKHWWSHPLPTCDA	4.0	8.0	-	-	4262_8:113662424-113662424 G>T_RLSHEEPLLCEKKHWWSHPLPTCDA
4:10446824-10446824 C>A	0.0	4262	COLON	-	-	-	-	ZNF518B	uc003gmn.3,p.D377Y|ENST00000326756,p.D377Y|NM_053042,p.D377Y|uc021xme.1,p.D377Y	retained_intron, protein_coding, processed_transcript	uc021xme.1	nonsynonymous SNV	exon1	c.G1129T	p.D377Y	PLEENNCLEAGRDNGGNSERMVKEK	PLEENNCLEAGRYNGGNSERMVKEK	4.0	9.0	-	-	4262_4:10446824-10446824 C>A_PLEENNCLEAGRYNGGNSERMVKEK
5:160721324-160721324 C>T	0.0	4262	COLON	-	-	-	-	GABRB2	uc011deh.1,p.D236N|ENST00000274547,p.D435N|ENST00000520240,p.D397N|ENST00000353437,p.D397N|ENST00000393959,p.D435N|uc003lyt.1,p.D397N|NM_000813,p.D397N|ENST00000517901,p.D334N|uc003lys.1,p.D435N|NM_021911,p.D435N|ENST00000517547,p.D237N|uc003lyr.1,p.D397N	retained_intron, protein_coding, processed_transcript	uc011deh.1	nonsynonymous SNV	exon7	c.G706A	p.D236N	GLGDPRSTMLAYDASSIQYRKAGLP	GLGDPRSTMLAYNASSIQYRKAGLP	4.0	8.0	-	-	4262_5:160721324-160721324 C>T_GLGDPRSTMLAYNASSIQYRKAGLP
1:34684294-34684294 T>G	0.0	4262	COLON	-	-	-	-	C1orf94	ENST00000373374,p.S387A|ENST00000488417,p.S577A|NM_032884,p.S387A|uc001bxt.3,p.S577A|uc001bxs.4,p.S387A|NM_001134734,p.S577A	protein_coding	uc001bxt.3	nonsynonymous SNV	exon7	c.T1729G	p.S577A	PQYLFPQGYGFGSTSGGPLMHSPYF	PQYLFPQGYGFGATSGGPLMHSPYF	1.0	1.0	-	-	4262_1:34684294-34684294 T>G_PQYLFPQGYGFGATSGGPLMHSPYF
14:23858092-23858092 C>T	0.0	4262	COLON	-	-	ID=COSM1369201;OCCURENCE=1(large_intestine),1(pancreas)	-	MYH6	NM_002471,p.R1384Q|ENST00000405093,p.R1384Q|uc001wjv.3,p.R1384Q|ENST00000356287,p.R1384Q	retained_intron, protein_coding	uc001wjv.3	nonsynonymous SNV	exon29	c.G4151A	p.R1384Q	QWRTKYETDAIQRTEELEEAKKKLA	QWRTKYETDAIQQTEELEEAKKKLA	3.0	10.0	-	-	4262_14:23858092-23858092 C>T_QWRTKYETDAIQQTEELEEAKKKLA
1:212238337-212238337 A>C	1.0	4262	COLON	-	-	-	-	DTL	ENST00000542077,p.K160T|NM_001286230,p.K160T|NM_016448,p.K202T|uc010ptb.2,p.K160T|uc009xdc.3,p.K202T|ENST00000366991,p.K202T	protein_coding, processed_transcript	uc010ptb.2	nonsynonymous SNV	exon6	c.A479C	p.K160T	NTSDKQTPSKPKKKQNSKGLAPSVD	NTSDKQTPSKPKTKQNSKGLAPSVD	8.0	1.0	-	-	4262_1:212238337-212238337 A>C_NTSDKQTPSKPKTKQNSKGLAPSVD
9:39149853-39149853 C>-	0.0	4262	COLON	-	-	-	-	CNTNAP3	ENST00000377659,p.A533fs|uc004abk.1,p.A533fs|uc004abi.3,p.A533fs|ENST00000377656,p.A533fs|ENST00000297668,p.A533fs|ENST00000358144,p.A445fs|NM_033655,p.A533fs|uc004abj.3,p.A533fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc004abk.1	frameshift deletion	exon10	c.1599delG	p.A533fs	DKAVDPILVQQGALGSFRDLQIDSC	DKAVDPILVQQGAWGVSGTSR	5.0	7.0	unscreened	-	4262_9:39149853-39149853 C>-_DKAVDPILVQQGAWGVSGTSR
16:51174064-51174064 T>G	0.0	4262	COLON	-	-	-	-	SALL1	NM_001127892,p.K593T|uc021tie.1,p.K690T|ENST00000440970,p.K593T|uc021tid.1,p.K593T|ENST00000570206,p.K593T|uc021tif.1,p.K593T|ENST00000251020,p.K690T|NM_002968,p.K690T	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon2	c.A1778C	p.K593T	GLLDSAQASETSKLQQLVENIDKKA	GLLDSAQASETSTLQQLVENIDKKA	6.0	2.0	-	-	4262_16:51174064-51174064 T>G_GLLDSAQASETSTLQQLVENIDKKA
16:70866761-70866761 G>A	0.0	4262	COLON	-	-	-	-	HYDIN	NM_001270974,p.A4630V|ENST00000393567,p.A4630V|uc031qwy.1,p.A4630V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon80	c.C13889T	p.A4630V	SLTLSGVCVGPPAVKEVVNFTCQVR	SLTLSGVCVGPPVVKEVVNFTCQVR	5.0	9.0	-	-	4262_16:70866761-70866761 G>A_SLTLSGVCVGPPVVKEVVNFTCQVR
22:37603733-37603733 G>A	0.0	4262	COLON	0.0032	-	-	-	SSTR3	uc003arb.3,p.P37L|uc003ara.3,p.P37L|NM_001051,p.P37L|ENST00000328544,p.P37L|ENST00000402501,p.P37L|NM_001278687,p.P37L|uc021wos.1,p.P37L	protein_coding	uc021wos.1	nonsynonymous SNV	exon1	c.C110T	p.P37L	DATLGNVSAGPSPAGLAVSGVLIPL	DATLGNVSAGPSLAGLAVSGVLIPL	3.0	7.0	-	-	4262_22:37603733-37603733 G>A_DATLGNVSAGPSLAGLAVSGVLIPL
19:39734754-39734754 G>A	0.0	4262	COLON	-	-	ID=COSM302420;OCCURENCE=1(central_nervous_system)	-	IFNL3	NM_172139,p.T101M|uc010xut.2,p.T101M|uc010xuu.2,p.T101M|ENST00000413851,p.T101M	protein_coding	uc010xuu.2	nonsynonymous SNV	exon3	c.C302T	p.T101M	ERPVALEAELALTLKVLEATADTDP	ERPVALEAELALMLKVLEATADTDP	1.0	10.0	-	-	4262_19:39734754-39734754 G>A_ERPVALEAELALMLKVLEATADTDP
12:117768418-117768418 A>T	0.0	4262	COLON	-	-	-	-	NOS1	ENST00000344089,p.S153T|NM_001204218,p.S153T|ENST00000317775,p.S153T|NM_000620,p.S153T|ENST00000338101,p.S153T|uc001twm.2,p.S153T|uc001twn.2,p.S153T	protein_coding, processed_transcript	uc001twn.2	nonsynonymous SNV	exon2	c.T457A	p.S153T	AGKEQPLAVDGASGPGNGPQHAYDD	AGKEQPLAVDGATGPGNGPQHAYDD	3.0	1.0	-	-	4262_12:117768418-117768418 A>T_AGKEQPLAVDGATGPGNGPQHAYDD
13:109438031-109438031 G>C	0.0	4262	COLON	-	-	-	-	MYO16	ENST00000357550,p.D164H|uc001vqt.1,p.D164H|uc010agk.2,p.D186H|NM_015011,p.D164H|ENST00000356711,p.D164H|NM_001198950,p.D186H|ENST00000251041,p.D164H	protein_coding, processed_transcript	uc010agk.2	nonsynonymous SNV	exon5	c.G556C	p.D186H	VLLQDVNGNIPLDYAVEGTESSSIL	VLLQDVNGNIPLHYAVEGTESSSIL	3.0	4.0	-	-	4262_13:109438031-109438031 G>C_VLLQDVNGNIPLHYAVEGTESSSIL
3:32032374-32032374 A>T	1.0	4262	COLON	-	-	-	-	ZNF860	NM_001137674,p.K601N|ENST00000360311,p.K601N|uc011axg.2,p.K601N|uc021wuv.1,p.K601N	protein_coding, processed_transcript	uc021wuv.1	nonsynonymous SNV	exon1	c.A1803T	p.K601N	MGEKHHKCDDCGKAFTSHSHRIRHQ	MGEKHHKCDDCGNAFTSHSHRIRHQ	7.0	6.0	unscreened	-	4262_3:32032374-32032374 A>T_MGEKHHKCDDCGNAFTSHSHRIRHQ
20:14665540-14665540 G>A	1.0	4262	COLON	-	-	-	-	MACROD2	uc002wot.3,p.R118H|ENST00000217246,p.R118H|NM_080676,p.R118H|ENST00000310348,p.R118H|uc002wou.3,p.R118H	protein_coding, processed_transcript	uc002wou.3	nonsynonymous SNV	exon5	c.G353A	p.R118H	HRAAGPCLLAECRNLNGCDTGHAKI	HRAAGPCLLAECHNLNGCDTGHAKI	7.0	9.0	-	-	4262_20:14665540-14665540 G>A_HRAAGPCLLAECHNLNGCDTGHAKI
9:113538240-113538240 C>A	0.0	4262	COLON	-	-	-	-	MUSK	ENST00000374448,p.L453I|NM_005592,p.L453I|ENST00000189978,p.L453I|uc022blv.1,p.L453I	protein_coding	uc022blv.1	nonsynonymous SNV	exon10	c.C1357A	p.L453I	HWDPTACARLPHLDYNKENLKTFPP	HWDPTACARLPHIDYNKENLKTFPP	2.0	4.0	-	-	4262_9:113538240-113538240 C>A_HWDPTACARLPHIDYNKENLKTFPP
14:24550761-24550761 G>C	1.0	4262	COLON	-	-	-	-	NRL	uc001wlq.3,p.S133C|ENST00000561028,p.S133C|NM_006177,p.S133C|ENST00000397002,p.S133C|uc001wlo.3,p.S133C|ENST00000396997,p.S133C|uc001wlp.3,p.S133C	protein_coding	uc001wlq.3	nonsynonymous SNV	exon3	c.C398G	p.S133C	TGAQHVQLAERFSDAALVSMSVREL	TGAQHVQLAERFCDAALVSMSVREL	4.0	8.0	-	-	4262_14:24550761-24550761 G>C_TGAQHVQLAERFCDAALVSMSVREL
16:31419146-31419146 G>A	0.0	4262	COLON	-	-	-	-	ITGAD	uc010vfl.1,p.A339T	retained_intron, protein_coding	uc010vfl.1	nonsynonymous SNV	exon8	c.G1015A	p.A339T	HCQAGAEYHQLSASAGPRVQGGQLC	HCQAGAEYHQLSTSAGPRVQGGQLC	3.0	10.0	-	-	4262_16:31419146-31419146 G>A_HCQAGAEYHQLSTSAGPRVQGGQLC
16:31447764-31447764 G>A	0.0	4262	COLON	-	-	-	-	ZNF843	NM_001136509,p.A136V|ENST00000315678,p.A136V|ENST00000564218,p.A136V|uc010vfm.1,p.A136V|uc021tgw.1,p.A136V	protein_coding	uc021tgw.1	nonsynonymous SNV	exon1	c.C407T	p.A136V	GFWGPVEADRPPANSHRRVCPFCCC	GFWGPVEADRPPVNSHRRVCPFCCC	4.0	10.0	-	-	4262_16:31447764-31447764 G>A_GFWGPVEADRPPVNSHRRVCPFCCC
2:21232139-21232139 C>T	0.0	4262	COLON	-	-	-	-	APOB	ENST00000233242,p.R2534Q|uc002red.3,p.R2534Q|NM_000384,p.R2534Q	protein_coding	uc002red.3	nonsynonymous SNV	exon26	c.G7601A	p.R2534Q	RMYQMDIQQELQRYLSLVGQVYSTL	RMYQMDIQQELQQYLSLVGQVYSTL	2.0	9.0	-	-	4262_2:21232139-21232139 C>T_RMYQMDIQQELQQYLSLVGQVYSTL
11:119216564-119216564 T>G	0.0	4262	COLON	-	-	-	-	MFRP	ENST00000555262,p.T116P|NM_031433,p.T116P|ENST00000530681,p.T116P|ENST00000360167,p.T116P|uc010rzg.1,p.T116P|ENST00000449574,p.T116P	nonsense_mediated_decay,retained_intron, protein_coding, processed_transcript	uc010rzg.1	nonsynonymous SNV	exon4	c.A346C	p.T116P	PLPAGGLTTTTTTPTITTSQAAGTP	PLPAGGLTTTTTPPTITTSQAAGTP	1.0	10.0	-	-	4262_11:119216564-119216564 T>G_PLPAGGLTTTTTPPTITTSQAAGTP
3:195508476-195508476 G>C	0.0	4262	COLON	-	-	-	2	MUC4	ENST00000475231,p.H3325Q|ENST00000470451,p.H3325Q|ENST00000463781,p.H3325Q|uc021xjp.1,p.H3325Q|ENST00000477086,p.H3325Q|ENST00000479406,p.H3325Q|ENST00000477756,p.H3325Q|NM_018406,p.H3325Q|ENST00000478156,p.H3325Q|ENST00000462323,p.H3325Q|ENST00000466475,p.H3325Q|ENST00000480843,p.H3325Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C9975G	p.H3325Q	LLVTDASSASTGHATPLHVTSPSSA	LLVTDASSASTGQATPLHVTSPSSA	6.0	3.0	-	-	4262_3:195508476-195508476 G>C_LLVTDASSASTGQATPLHVTSPSSA
21:15599276-15599276 G>A	0.0	4262	COLON	-	-	-	-	RBM11	uc002yjn.4,p.V56M|uc002yjo.4,p.V170M|uc002yjp.4,p.V56M|NM_144770,p.V170M|ENST00000400577,p.V170M	retained_intron, protein_coding, processed_transcript	uc002yjp.4	nonsynonymous SNV	exon4	c.G166A	p.V56M	YEMTAPLPNSASVSSSLNHVPDLEA	YEMTAPLPNSASMSSSLNHVPDLEA	4.0	7.0	-	-	4262_21:15599276-15599276 G>A_YEMTAPLPNSASMSSSLNHVPDLEA
16:30750387-30750387 G>A	1.0	4262	COLON	-	-	-	-	SRCAP	NM_006662,p.R3009Q|uc002dzg.1,p.R2804Q|ENST00000262518,p.R3009Q|ENST00000395059,p.R2947Q|ENST00000344771,p.R2851Q|uc002dze.1,p.R3009Q|ENST00000380361,p.R2832Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002dzg.1	nonsynonymous SNV	exon29	c.G8411A	p.R2804Q	TISTSPPKRKRGRPPKNPPSPRPSQ	TISTSPPKRKRGQPPKNPPSPRPSQ	8.0	10.0	-	-	4262_16:30750387-30750387 G>A_TISTSPPKRKRGQPPKNPPSPRPSQ
13:93879843-93879843 C>T	0.0	4262	COLON	-	-	-	-	GPC6	uc010tig.1,p.A45V|NM_005708,p.A45V|ENST00000377047,p.A45V|uc001vlt.3,p.A45V	protein_coding	uc010tig.1	nonsynonymous SNV	exon1	c.C134T	p.A45V	VRQAYGAKGFSLADIPYQEIAGEHL	VRQAYGAKGFSLVDIPYQEIAGEHL	5.0	9.0	-	-	4262_13:93879843-93879843 C>T_VRQAYGAKGFSLVDIPYQEIAGEHL
1:179462076-179462076 A>T	0.0	4262	COLON	-	-	-	-	AXDND1	uc001gmo.3,p.D793V|ENST00000367618,p.D793V|NM_144696,p.D793V	protein_coding, processed_transcript, nonsense_mediated_decay	uc001gmo.3	nonsynonymous SNV	exon20	c.A2378T	p.D793V	SHKNATEDLYEVDKLKKECYEWINT	SHKNATEDLYEVVKLKKECYEWINT	6.0	7.0	-	-	4262_1:179462076-179462076 A>T_SHKNATEDLYEVVKLKKECYEWINT
5:140263408-140263408 G>A	1.0	4262	COLON	-	-	-	-	PCDHA13	uc003lid.3,p.A519T|ENST00000289272,p.A519T|ENST00000409494,p.A519T|NM_031865,p.A519T|NM_018904,p.A519T|uc003lif.2,p.A519T|uc003lie.1,p.A519T	protein_coding	uc003lif.2	nonsynonymous SNV	exon1	c.G1555A	p.A519T	YVSVHAESGKVYALQPLDHEELELL	YVSVHAESGKVYTLQPLDHEELELL	5.0	9.0	-	-	4262_5:140263408-140263408 G>A_YVSVHAESGKVYTLQPLDHEELELL
19:467703-467703 A>C	0.0	4262	COLON	-	-	-	-	ODF3L2	ENST00000315489,p.F99V|ENST00000382696,p.F63V|uc010drp.3,p.F63V|uc002lor.3,p.F99V|NM_182577,p.F99V	retained_intron, protein_coding	uc010drp.3	nonsynonymous SNV	exon2	c.T187G	p.F63V	GPIYFLDPKVTRFGRSCTPAYSMQG	GPIYFLDPKVTRVGRSCTPAYSMQG	3.0	8.0	-	-	4262_19:467703-467703 A>C_GPIYFLDPKVTRVGRSCTPAYSMQG
13:103346751-103346751 G>A	0.0	4262	COLON	-	-	ID=COSM289342;OCCURENCE=1(large_intestine)	-	METTL21C	NM_001010977,p.P33L|uc001vpj.4,p.P33L|ENST00000267273,p.P33L	protein_coding	uc001vpj.4	nonsynonymous SNV	exon1	c.C98T	p.P33L	PGGWLEAEKKGAPQKDSTGGVLEES	PGGWLEAEKKGALQKDSTGGVLEES	1.0	10.0	-	-	4262_13:103346751-103346751 G>A_PGGWLEAEKKGALQKDSTGGVLEES
9:113538240-113538240 C>A	0.0	4262	COLON	-	-	-	-	MUSK	uc004bez.2,p.L372I|uc022blu.1,p.L362I	protein_coding	uc022blu.1	nonsynonymous SNV	exon9	c.C1084A	p.L362I	PSMHWDPTACARLPHLAFPPMTSSK	PSMHWDPTACARIPHLAFPPMTSSK	2.0	4.0	unscreened	-	4262_9:113538240-113538240 C>A_PSMHWDPTACARIPHLAFPPMTSSK
19:6754872-6754872 G>A	1.0	4262	COLON	-	-	-	-	SH2D3A	ENST00000597687,p.R190C	retained_intron, protein_coding, processed_transcript	ENST00000597687	nonsynonymous SNV	exon5	c.C568T	p.R190C	PWPVPGAPSWEHRPSPAIGRLPGHR	PWPVPGAPSWEHCPSPAIGRLPGHR	6.0	9.0	-	-	4262_19:6754872-6754872 G>A_PWPVPGAPSWEHCPSPAIGRLPGHR
9:113538240-113538240 C>A	0.0	4262	COLON	-	-	-	-	MUSK	NM_001166281,p.L365I|ENST00000416899,p.L453I|NM_001166280,p.L375I	protein_coding	NM_001166281	nonsynonymous SNV	exon8	c.C1093A	p.L365I	HWDPTACARLPHLAFPPMTSSKPSV	HWDPTACARLPHIAFPPMTSSKPSV	2.0	4.0	-	-	4262_9:113538240-113538240 C>A_HWDPTACARLPHIAFPPMTSSKPSV
8:41530389-41530389 G>T	0.0	4262	COLON	-	-	-	2	ANK1	uc003xoi.3,p.L1527M|NM_000037,p.L1527M|ENST00000352337,p.L1527M|ENST00000265709,p.L1568M|uc003xom.3,p.L1568M|ENST00000289734,p.L1527M|ENST00000379758,p.L1527M|NM_020475,p.L1527M|NM_001142446,p.L1568M|NM_020476,p.L1527M|ENST00000396942,p.L1527M|ENST00000347528,p.L1527M|uc003xoj.3,p.L1527M|uc003xok.3,p.L1527M|ENST00000396945,p.L1527M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xom.3	nonsynonymous SNV	exon39	c.C4702A	p.L1568M	SSLQDELLSPASLGCALSSPLRADQ	SSLQDELLSPASMGCALSSPLRADQ	6.0	8.0	-	-	4262_8:41530389-41530389 G>T_SSLQDELLSPASMGCALSSPLRADQ
13:86370334-86370334 C>G	0.0	4262	COLON	-	-	-	-	SLITRK6	NM_032229,p.E104Q|uc021rla.1,p.E104Q|ENST00000400286,p.E104Q|uc001vll.1,p.E104Q	protein_coding	uc021rla.1	nonsynonymous SNV	exon1	c.G310C	p.E104Q	SIHLGFNNIADIEIGAFNGLGLLKQ	SIHLGFNNIADIQIGAFNGLGLLKQ	4.0	2.0	-	-	4262_13:86370334-86370334 C>G_SIHLGFNNIADIQIGAFNGLGLLKQ
2:138373808-138373808 A>G	0.0	4262	COLON	-	-	-	-	THSD7B	ENST00000413152,p.R1135G|ENST00000272643,p.R1166G|ENST00000409968,p.R1163G	retained_intron, protein_coding, processed_transcript	ENST00000413152	nonsynonymous SNV	exon18	c.A3403G	p.R1135G	RTRHLLRPSLNSRTCAEDSQVQPCL	RTRHLLRPSLNSGTCAEDSQVQPCL	4.0	1.0	-	-	4262_2:138373808-138373808 A>G_RTRHLLRPSLNSGTCAEDSQVQPCL
1:152081064-152081111 CTGGCGGCGCAGCTGCTGTTCCTCCTGGAGGAATTTTCTCTGCCGTTG>-	0.0	4262	COLON	-	-	-	-	TCHH	NM_007113,p.1528_1543del|ENST00000368804,p.1528_1543del|uc001ezp.3,p.1528_1543del|uc009wne.1,p.1528_1543del	protein_coding	uc009wne.1	nonframeshift deletion	exon3	c.4582_4629del	p.1528_1543del	KFLEEEQQLHRQQRQRKFLQEEQQL	KFLEEEQQLHRQERGQQRRQDRDRK	6.0	9.0	-	-	4262_1:152081064-152081111 CTGGCGGCGCAGCTGCTGTTCCTCCTGGAGGAATTTTCTCTGCCGTTG>-_KFLEEEQQLHRQERGQQRRQDRDRK
3:9956211-9956211 T>G	0.0	4262	COLON	-	-	-	-	IL17RE	ENST00000454190,p.V450G|uc010hcq.3,p.V450G|NM_001193380,p.V450G	retained_intron, protein_coding, nonsense_mediated_decay	uc010hcq.3	nonsynonymous SNV	exon14	c.T1349G	p.V450G	SSPGGEDAWLIGVGGSVPSGVAVRC	SSPGGEDAWLIGGGGSVPSGVAVRC	8.0	8.0	-	-	4262_3:9956211-9956211 T>G_SSPGGEDAWLIGGGGSVPSGVAVRC
9:43816739-43816739 C>T	0.0	4262	COLON	-	-	-	-	CNTNAP3B	ENST00000479351,p.T282M|ENST00000276974,p.T282M|NM_001201380,p.T282M|uc004ada.2,p.T282M|ENST00000377564,p.T282M	protein_coding, processed_transcript, nonsense_mediated_decay	uc004ada.2	nonsynonymous SNV	exon6	c.C845T	p.T282M	QHWHSVLIELLDTQVNFTVDKHTHH	QHWHSVLIELLDMQVNFTVDKHTHH	5.0	4.0	-	-	4262_9:43816739-43816739 C>T_QHWHSVLIELLDMQVNFTVDKHTHH
14:70990054-70990054 A>G	0.0	4262	COLON	-	-	-	-	ADAM20	NM_003814,p.L524P|uc001xme.3,p.L524P|uc021rvs.1,p.L524P|ENST00000256389,p.L524P	protein_coding	uc021rvs.1	nonsynonymous SNV	exon1	c.T1571C	p.L524P	GTLCRQQVGECDLPEWCNGTSHQCP	GTLCRQQVGECDPPEWCNGTSHQCP	5.0	4.0	-	-	4262_14:70990054-70990054 A>G_GTLCRQQVGECDPPEWCNGTSHQCP
11:55653678-55653678 G>A	0.0	4262	COLON	-	-	-	-	TRIM51	ENST00000244891,p.R21K|uc010rip.2,p.R164K|uc010riq.2,p.R21K|NM_032681,p.R164K|ENST00000449290,p.R164K	protein_coding	uc010riq.2	nonsynonymous SNV	exon1	c.G62A	p.R21K	CENLRNLNMETTRTRCWKDYVSLRI	CENLRNLNMETTKTRCWKDYVSLRI	4.0	6.0	unscreened	-	4262_11:55653678-55653678 G>A_CENLRNLNMETTKTRCWKDYVSLRI
10:20335850-20335850 C>G	0.0	4262	COLON	-	-	-	-	PLXDC2	NM_032812,p.S126C|ENST00000377252,p.S126C|uc001iqg.1,p.S126C	protein_coding	uc001iqg.1	nonsynonymous SNV	exon3	c.C377G	p.S126C	NYYISRIYGPSDSASRDLWVNIDQM	NYYISRIYGPSDCASRDLWVNIDQM	7.0	5.0	-	-	4262_10:20335850-20335850 C>G_NYYISRIYGPSDCASRDLWVNIDQM
7:73929810-73929810 A>C	1.0	4262	COLON	-	-	-	-	GTF2IRD1	uc010lbq.3,p.K134T|NM_016328,p.K102T|NM_005685,p.K102T|NM_001199207,p.K134T|ENST00000455841,p.K134T|uc003uap.3,p.K102T|ENST00000424337,p.K102T|uc003uar.1,p.K102T|ENST00000265755,p.K102T|uc003uaq.3,p.K102T|ENST00000476977,p.K102T	retained_intron, protein_coding, processed_transcript	uc010lbq.3	nonsynonymous SNV	exon4	c.A401C	p.K134T	GPPWKDPEAEHPKKVQRGEGGGRSL	GPPWKDPEAEHPTKVQRGEGGGRSL	9.0	2.0	-	-	4262_7:73929810-73929810 A>C_GPPWKDPEAEHPTKVQRGEGGGRSL
11:55653679-55653679 A>T	0.0	4262	COLON	-	-	-	-	TRIM51	ENST00000449290,p.R164S|uc010rip.2,p.R164S|ENST00000244891,p.R21S|uc010riq.2,p.R21S|NM_032681,p.R164S	protein_coding	uc010riq.2	nonsynonymous SNV	exon1	c.A63T	p.R21S	CENLRNLNMETTRTRCWKDYVSLRI	CENLRNLNMETTSTRCWKDYVSLRI	4.0	6.0	unscreened	-	4262_11:55653679-55653679 A>T_CENLRNLNMETTSTRCWKDYVSLRI
1:179462076-179462076 A>T	0.0	4262	COLON	-	-	-	-	AXDND1	uc021pfj.1,p.D751V|ENST00000434088,p.D727V	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pfj.1	nonsynonymous SNV	exon18	c.A2252T	p.D751V	SHKNATEDLYEVDKLKQPSTSTEKE	SHKNATEDLYEVVKLKQPSTSTEKE	6.0	7.0	-	-	4262_1:179462076-179462076 A>T_SHKNATEDLYEVVKLKQPSTSTEKE
2:189862076-189862076 G>T	0.0	4262	COLON	-	-	-	2	COL3A1	ENST00000317840,p.K610N|ENST00000304636,p.K610N|NM_000090,p.K610N|uc002uqj.1,p.K610N	retained_intron, protein_coding	uc002uqj.1	nonsynonymous SNV	exon26	c.G1830T	p.K610N	GPGGPGPQGPPGKNGETGPQGPPGP	GPGGPGPQGPPGNNGETGPQGPPGP	10.0	9.0	-	-	4262_2:189862076-189862076 G>T_GPGGPGPQGPPGNNGETGPQGPPGP
2:239010750-239010750 C>T	0.0	4262	COLON	-	-	-	-	ESPNL	ENST00000409169,p.L155F|ENST00000343063,p.L155F|NM_194312,p.L155F|uc002vxq.4,p.L155F	protein_coding, processed_transcript	uc002vxq.4	nonsynonymous SNV	exon2	c.C463T	p.L155F	HAAVSGDLTCLKLLTAAHGSSVNRR	HAAVSGDLTCLKFLTAAHGSSVNRR	3.0	7.0	-	-	4262_2:239010750-239010750 C>T_HAAVSGDLTCLKFLTAAHGSSVNRR
2:178705042-178705042 A>C	0.0	4262	COLON	-	-	-	-	PDE11A	NM_001077358,p.V121G|uc002ult.1,p.V229G|ENST00000449286,p.V121G|uc002ulu.1,p.V121G|ENST00000286063,p.V479G|NM_001077197,p.V229G|uc002uls.1,p.V121G|uc002ulp.3,p.V35G|ENST00000389683,p.V35G|uc002ulq.3,p.V479G|NM_001077196,p.V35G|ENST00000409504,p.V121G|NM_016953,p.V479G|ENST00000358450,p.V229G|uc002ulr.3,p.V229G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ulu.1	nonsynonymous SNV	exon5	c.T362G	p.V121G	SDWLINNSIAELVASTGLPVNISDA	SDWLINNSIAELGASTGLPVNISDA	5.0	2.0	-	-	4262_2:178705042-178705042 A>C_SDWLINNSIAELGASTGLPVNISDA
10:135438635-135438635 T>G	1.0	4262	COLON	-	rs74762197	-	-	FRG2B	NM_001080998,p.T269P|ENST00000425520,p.T269P|ENST00000443774,p.T270P|uc010qvg.2,p.T269P	protein_coding, processed_transcript	uc010qvg.2	nonsynonymous SNV	exon4	c.A805C	p.T269P	EAHPFPGQEITETVSGSDEAKL	EAHPFPGQEITEPVSGSDEAKL	5.0	7.0	-	-	4262_10:135438635-135438635 T>G_EAHPFPGQEITEPVSGSDEAKL
6:35287395-35287395 G>A	1.0	4262	COLON	-	-	-	-	DEF6	uc010jvt.3,p.R182Q|NM_022047,p.R437Q|ENST00000316637,p.R437Q|ENST00000542066,p.R182Q|uc003okk.3,p.R437Q|uc010jvs.3,p.R412Q	protein_coding, processed_transcript	uc010jvt.3	nonsynonymous SNV	exon7	c.G545A	p.R182Q	RQRIKELEEMQQRLQEALQLEVKAR	RQRIKELEEMQQQLQEALQLEVKAR	7.0	5.0	-	-	4262_6:35287395-35287395 G>A_RQRIKELEEMQQQLQEALQLEVKAR
X:35971836-35971836 A>C	0.0	4262	COLON	-	-	ID=COSM186482,COSM186481;OCCURENCE=1(large_intestine)	-	CXorf22	ENST00000493930,p.S392R|ENST00000297866,p.S392R|NM_152632,p.S392R|uc004ddj.3,p.S392R	protein_coding, nonsense_mediated_decay	uc004ddj.3	nonsynonymous SNV	exon7	c.A1174C	p.S392R	GFLRDDDYKTIKSERFQKVELALTG	GFLRDDDYKTIKRERFQKVELALTG	4.0	5.0	-	-	4262_X:35971836-35971836 A>C_GFLRDDDYKTIKRERFQKVELALTG
12:31579256-31579256 C>T	0.0	4262	COLON	-	-	-	-	DENND5B	ENST00000536562,p.E772K|ENST00000389082,p.E737K|uc001rkh.1,p.E772K|ENST00000306833,p.E772K|uc001rki.1,p.E737K|NM_144973,p.E737K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rki.1	nonsynonymous SNV	exon9	c.G2209A	p.E737K	PAVIAQTNCKFVEGLLKECRMKTKR	PAVIAQTNCKFVKGLLKECRMKTKR	6.0	2.0	-	-	4262_12:31579256-31579256 C>T_PAVIAQTNCKFVKGLLKECRMKTKR
1:34677966-34677966 G>A	0.0	4262	COLON	-	-	-	-	C1orf94	NM_032884,p.M370I|ENST00000488417,p.M560I|NM_001134734,p.M560I|uc001bxt.3,p.M560I|ENST00000373374,p.M370I|uc001bxs.4,p.M370I	protein_coding	uc001bxt.3	nonsynonymous SNV	exon6	c.G1680A	p.M560I	PKMSANPRDPPLMAGDGPQYLFPQG	PKMSANPRDPPLIAGDGPQYLFPQG	1.0	5.0	-	-	4262_1:34677966-34677966 G>A_PKMSANPRDPPLIAGDGPQYLFPQG
19:5713181-5713181 C>T	1.0	4262	COLON	-	-	-	-	LONP1	ENST00000590558,p.G114E|ENST00000593119,p.G137E|ENST00000590729,p.G87E|ENST00000360614,p.G201E|uc031riz.1,p.G87E|ENST00000585374,p.G87E|NM_004793,p.G201E|uc031rja.1,p.G135E|uc002mcy.3,p.G137E|NM_001276479,p.G137E|uc002mcx.4,p.G201E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rja.1	nonsynonymous SNV	exon4	c.G404A	p.G135E	GTFAQIHEMQDLGDKLRMIVMGHRR	GTFAQIHEMQDLEDKLRMIVMGHRR	8.0	5.0	-	-	4262_19:5713181-5713181 C>T_GTFAQIHEMQDLEDKLRMIVMGHRR
20:55908294-55908294 A>T	0.0	4262	COLON	-	-	-	-	SPO11	NM_198265,p.K61M|NM_012444,p.K99M|ENST00000371260,p.K61M|ENST00000371263,p.K99M|ENST00000345868,p.K61M|uc002xye.3,p.K99M|ENST00000418127,p.K77M|uc002xyf.3,p.K61M	protein_coding, nonsense_mediated_decay	uc002xyf.3	nonsynonymous SNV	exon2	c.A182T	p.K61M	VGLQMVSHCTTRKIKSDSPKSAQKF	VGLQMVSHCTTRMIKSDSPKSAQKF	1.0	5.0	-	-	4262_20:55908294-55908294 A>T_VGLQMVSHCTTRMIKSDSPKSAQKF
5:151046042-151046042 C>T	0.0	4262	COLON	-	-	-	-	SPARC	uc003lui.4,p.R205H|ENST00000231061,p.R205H|uc003lug.4,p.R39H|ENST00000538026,p.R114H|NM_003118,p.R205H	retained_intron, protein_coding, processed_transcript	uc003lui.4	nonsynonymous SNV	exon8	c.G614A	p.R205H	KLRVKKIHENEKRLEAGDHPVELLA	KLRVKKIHENEKHLEAGDHPVELLA	10.0	6.0	-	-	4262_5:151046042-151046042 C>T_KLRVKKIHENEKHLEAGDHPVELLA
3:31665244-31665244 A>-	1.0	4262	COLON	-	-	-	-	STT3B	NM_178862,p.T540fs|uc011axe.2,p.T540fs|ENST00000295770,p.T540fs	retained_intron, protein_coding, processed_transcript	uc011axe.2	frameshift deletion	exon11	c.1618delA	p.T540fs	EEGLGPNIKSIVTMLMLMLLMMFAV	EEGLGPNIKSIVPC	10.0	9.0	-	-	4262_3:31665244-31665244 A>-_EEGLGPNIKSIVPC
14:74523868-74523868 T>G	1.0	4262	COLON	-	-	-	-	CCDC176	NM_025057,p.D495E|ENST00000492247,p.D39E|ENST00000394009,p.D495E|uc010tup.2,p.D495E|ENST00000553773,p.D220E	retained_intron, protein_coding, processed_transcript	uc010tup.2	nonsynonymous SNV	exon11	c.T1485G	p.D495E	ETKEFGDESKLQDKIFITQQIAISD	ETKEFGDESKLQEKIFITQQIAISD	5.0	3.0	-	-	4262_14:74523868-74523868 T>G_ETKEFGDESKLQEKIFITQQIAISD
9:124855577-124855582 CAGCGG>-	0.0	4262	COLON	-	-	-	-	TTLL11	uc004blt.1,p.39_41del|ENST00000373776,p.39_41del|NM_194252,p.39_41del|ENST00000321582,p.39_41del|NM_001139442,p.39_41del|uc004blu.1,p.39_41del|uc011lyl.2,p.39_41del	protein_coding, processed_transcript	uc011lyl.2	nonframeshift deletion	exon1	c.116_121del	p.39_41del	LSLPGPRLDAVTAAVNPSLSDHGNG	LSLPGPRLDAVTVNPSLSDHGNGLG	6.0	5.0	-	-	4262_9:124855577-124855582 CAGCGG>-_LSLPGPRLDAVTVNPSLSDHGNGLG
17:74288298-74288298 A>T	0.0	4262	COLON	-	-	-	-	QRICH2	NM_032134,p.V671D|ENST00000262765,p.V671D|uc002jrd.1,p.V671D	protein_coding, nonsense_mediated_decay	uc002jrd.1	nonsynonymous SNV	exon4	c.T2012A	p.V671D	GVDQRGLVQPGAVQRGLVQPGAVQH	GVDQRGLVQPGADQRGLVQPGAVQH	5.0	8.0	unscreened	-	4262_17:74288298-74288298 A>T_GVDQRGLVQPGADQRGLVQPGAVQH
1:196227371-196227371 A>G	0.0	4262	COLON	-	-	ID=COSM1255428;OCCURENCE=1(oesophagus)	-	KCNT2	NM_001287819,p.L1031P|ENST00000294725,p.L1055P|NM_001287820,p.L988P|ENST00000367433,p.L1031P|uc001gtf.1,p.L1031P|uc001gth.1,p.L559P|ENST00000367431,p.L989P|NM_198503,p.L1055P|uc001gte.1,p.L988P|uc001gtd.1,p.L1055P	protein_coding, processed_transcript	uc001gth.1	nonsynonymous SNV	exon12	c.T1676C	p.L559P	LYRRSERQELAELVKNRMKHLGLST	LYRRSERQELAEPVKNRMKHLGLST	5.0	2.0	-	-	4262_1:196227371-196227371 A>G_LYRRSERQELAEPVKNRMKHLGLST
17:36717933-36717933 G>A	0.0	4262	COLON	-	-	-	-	SRCIN1	uc002hqf.1,p.P361L|ENST00000264659,p.P489L|ENST00000578925,p.P523L|NM_025248,p.P489L|uc002hqd.3,p.P489L|uc002hqe.2,p.P343L|uc002hqh.1,p.P549L	retained_intron, protein_coding, processed_transcript	uc002hqh.1	nonsynonymous SNV	exon7	c.C1646T	p.P549L	KLADVAAPPGGPPPPHSPYSGPPSR	KLADVAAPPGGPLPPHSPYSGPPSR	5.0	8.0	-	-	4262_17:36717933-36717933 G>A_KLADVAAPPGGPLPPHSPYSGPPSR
6:30954122-30954122 T>C	0.0	4262	COLON	-	-	-	-	MUC21	NM_001010909,p.V57A|uc003nsh.2,p.V57A|uc021yuf.1,p.V41A|ENST00000376296,p.V57A	protein_coding	uc021yuf.1	nonsynonymous SNV	exon1	c.T122C	p.V41A	ATNSGSSVTSSGVSTATISGSSVTS	ATNSGSSVTSSGASTATISGSSVTS	2.0	3.0	-	-	4262_6:30954122-30954122 T>C_ATNSGSSVTSSGASTATISGSSVTS
19:53612164-53612164 G>T	0.0	4262	COLON	-	-	-	-	ZNF415	ENST00000601493,p.H148Q|uc002qau.3,p.H365Q|uc010yds.2,p.H378Q|NM_001136038,p.H378Q|uc002qav.3,p.H390Q|ENST00000440291,p.H365Q|ENST00000421033,p.H390Q|NM_001164309,p.H378Q|ENST00000500065,p.H378Q|ENST00000448501,p.H426Q|uc002qaw.3,p.H378Q|uc002qay.3,p.H365Q|uc002qba.3,p.H148Q|ENST00000455735,p.H426Q|uc002qaz.3,p.H426Q|uc002qax.3,p.H426Q|ENST00000243643,p.H378Q|NM_018355,p.H378Q|uc010ydt.2,p.H378Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ydt.2	nonsynonymous SNV	exon4	c.C1134A	p.H378Q	SQTSSLATHQRIHTGEKPYKCNECG	SQTSSLATHQRIQTGEKPYKCNECG	5.0	2.0	-	-	4262_19:53612164-53612164 G>T_SQTSSLATHQRIQTGEKPYKCNECG
X:153881600-153881600 G>T	0.0	4262	COLON	-	-	-	-	CTAG2	NM_172377,p.P64T|ENST00000247306,p.P64T|uc004fmi.2,p.P64T|ENST00000369585,p.P64T|NM_020994,p.P64T|uc004fmh.2,p.P64T	protein_coding	uc004fmi.2	nonsynonymous SNV	exon1	c.C190A	p.P64T	RASGPRGGAPRGPHGGAASAQDGRC	RASGPRGGAPRGTHGGAASAQDGRC	4.0	2.0	-	-	4262_X:153881600-153881600 G>T_RASGPRGGAPRGTHGGAASAQDGRC
8:37728941-37728941 G>C	1.0	4262	COLON	-	-	-	-	RAB11FIP1	uc003xko.1,p.Q456E|ENST00000330843,p.Q1127E|NM_001002814,p.Q1127E|uc003xkm.2,p.Q1127E|uc003xkl.2,p.Q456E	retained_intron, protein_coding, processed_transcript	uc003xko.1	nonsynonymous SNV	exon1	c.C1366G	p.Q456E	HSDTHHTSTAESQKKATAEGSAGRV	HSDTHHTSTAESEKKATAEGSAGRV	8.0	8.0	-	-	4262_8:37728941-37728941 G>C_HSDTHHTSTAESEKKATAEGSAGRV
3:129695797-129695797 G>C	0.0	4262	COLON	-	-	-	-	TRH	uc003enc.4,p.R156T|ENST00000507066,p.R152T|NM_007117,p.R156T|ENST00000302649,p.R156T	protein_coding	uc003enc.4	nonsynonymous SNV	exon3	c.G467C	p.R156T	LAYAVPKRQHPGRRLADPKAQRSWE	LAYAVPKRQHPGTRLADPKAQRSWE	4.0	6.0	-	-	4262_3:129695797-129695797 G>C_LAYAVPKRQHPGTRLADPKAQRSWE
11:128786618-128786618 T>G	0.0	4262	COLON	-	-	-	1	KCNJ5	NM_000890,p.S418A|uc001qew.3,p.S418A|ENST00000533599,p.S418A|uc009zck.3,p.S418A|ENST00000338350,p.S418A|ENST00000529694,p.S418A|uc001qet.3,p.S418A	protein_coding	uc009zck.3	nonsynonymous SNV	exon4	c.T1252G	p.S418A	PKGLGGSREARGSV	PKGLGGSREARGAV	6.0	2.0	-	-	4262_11:128786618-128786618 T>G_PKGLGGSREARGAV
5:35955933-35955933 C>G	0.0	4262	COLON	-	-	-	-	UGT3A1	ENST00000274278,p.G370A|NM_152404,p.G370A|uc011cor.2,p.G336A|uc011coq.2,p.G370A|uc003jjv.2,p.G370A|ENST00000507113,p.G336A|ENST00000503189,p.G370A	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cor.2	nonsynonymous SNV	exon5	c.G1007C	p.G336A	LAHPSIRLFVTHGGQNSVMEAIRHG	LAHPSIRLFVTHAGQNSVMEAIRHG	1.0	3.0	-	-	4262_5:35955933-35955933 C>G_LAHPSIRLFVTHAGQNSVMEAIRHG
17:74015622-74015622 A>G	1.0	4262	COLON	-	-	-	-	EVPL	uc002jqi.2,p.L375P|NM_001988,p.L375P|ENST00000301607,p.L375P|ENST00000586740,p.L375P|uc010wss.1,p.L375P	retained_intron, protein_coding	uc010wss.1	nonsynonymous SNV	exon10	c.T1124C	p.L375P	APGGPPGAPTELLQQLEAEEKRLAV	APGGPPGAPTELPQQLEAEEKRLAV	7.0	3.0	-	-	4262_17:74015622-74015622 A>G_APGGPPGAPTELPQQLEAEEKRLAV
2:11354499-11354499 A>C	1.0	4262	COLON	-	-	-	-	ROCK2	uc002rbd.1,p.F676C|ENST00000315872,p.F676C|ENST00000401753,p.F433C|NM_004850,p.F676C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rbd.1	nonsynonymous SNV	exon17	c.T2027G	p.F676C	KVELEKRQLQERFTDLEKEKSNMEI	KVELEKRQLQERCTDLEKEKSNMEI	9.0	7.0	-	-	4262_2:11354499-11354499 A>C_KVELEKRQLQERCTDLEKEKSNMEI
18:60036534-60036534 G>T	1.0	4262	COLON	-	-	-	-	TNFRSF11A	ENST00000586569,p.G462C|NM_001278268,p.G448C|uc031rim.1,p.G448C|NM_003839,p.G462C|uc002lin.4,p.G462C	retained_intron, protein_coding	uc031rim.1	nonsynonymous SNV	exon9	c.G1342T	p.G448C	RNPPGEDCEPLVGSPKRGPLPQCAY	RNPPGEDCEPLVCSPKRGPLPQCAY	7.0	8.0	-	-	4262_18:60036534-60036534 G>T_RNPPGEDCEPLVCSPKRGPLPQCAY
1:154456689-154456689 T>G	0.0	4262	COLON	-	-	-	-	SHE	NM_001010846,p.K475T|ENST00000304760,p.K475T|uc001ffb.3,p.K475T	protein_coding	uc001ffb.3	nonsynonymous SNV	exon6	c.A1424C	p.K475T	SIPEVVHYYSNEKLPFKGAEHMTLL	SIPEVVHYYSNETLPFKGAEHMTLL	3.0	4.0	-	-	4262_1:154456689-154456689 T>G_SIPEVVHYYSNETLPFKGAEHMTLL
11:83497820-83497820 G>T	0.0	4262	COLON	-	-	-	-	DLG2	uc001pal.1,p.L475I|uc021qof.1,p.L514I|ENST00000330014,p.L414I|uc001paj.2,p.L475I|ENST00000532653,p.L475I|uc010rta.1,p.L475I|NM_001142699,p.L580I|NM_001206769,p.L514I|ENST00000418306,p.L372I|ENST00000543673,p.L580I|NM_001300983,p.L475I|uc010rtb.1,p.L442I|ENST00000398301,p.L514I|ENST00000524982,p.L475I|uc010rsy.1,p.L442I|uc001pam.2,p.L514I|ENST00000376104,p.L580I|uc010rsz.1,p.L475I|ENST00000280241,p.L514I|ENST00000537455,p.L229I|ENST00000398309,p.L475I|uc001pak.2,p.L580I|NM_001142700,p.L372I|NM_001364,p.L475I|ENST00000531015,p.L442I|uc001pai.2,p.L372I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qof.1	nonsynonymous SNV	exon12	c.C1540A	p.L514I	RGDQILSVNGIDLRGASHEQAAAAL	RGDQILSVNGIDIRGASHEQAAAAL	6.0	7.0	-	-	4262_11:83497820-83497820 G>T_RGDQILSVNGIDIRGASHEQAAAAL
10:50340343-50340343 T>A	0.0	4262	COLON	-	-	-	-	FAM170B	NM_001164484,p.E56V|uc001jhj.3,p.E56V|ENST00000311787,p.E56V	protein_coding	uc001jhj.3	nonsynonymous SNV	exon2	c.A167T	p.E56V	GSSPRPGPAIPREEGLYFAARDRGM	GSSPRPGPAIPRVEGLYFAARDRGM	1.0	3.0	-	-	4262_10:50340343-50340343 T>A_GSSPRPGPAIPRVEGLYFAARDRGM
21:19770567-19770567 T>G	0.0	4262	COLON	-	-	-	-	TMPRSS15	uc002ykw.3,p.Q75H|ENST00000284885,p.Q75H|NM_002772,p.Q75H|ENST00000422787,p.Q30H	protein_coding, processed_transcript	uc002ykw.3	nonsynonymous SNV	exon2	c.A225C	p.Q75H	KITSGVTYNPNLQDKLSVDFKVLAF	KITSGVTYNPNLHDKLSVDFKVLAF	2.0	4.0	unscreened	-	4262_21:19770567-19770567 T>G_KITSGVTYNPNLHDKLSVDFKVLAF
13:98116580-98116580 T>C	1.0	4262	COLON	-	-	-	-	RAP2A	ENST00000245304,p.S146P|uc001vnd.3,p.S146P|NM_021033,p.S146P	protein_coding, nonsense_mediated_decay	uc001vnd.3	nonsynonymous SNV	exon2	c.T436C	p.S146P	LAEEWGCPFMETSAKSKTMVDELFA	LAEEWGCPFMETPAKSKTMVDELFA	8.0	3.0	-	-	4262_13:98116580-98116580 T>C_LAEEWGCPFMETPAKSKTMVDELFA
4:119948372-119948372 G>A	0.0	4262	COLON	-	-	ID=COSM241822,COSM241821;OCCURENCE=1(prostate)	-	SYNPO2	NM_001128933,p.R283Q|uc003icm.4,p.R283Q|NM_001128934,p.R283Q|ENST00000429713,p.R283Q|NM_133477,p.R283Q|NM_001286754,p.R252Q|uc010inc.3,p.R211Q|ENST00000307142,p.R283Q|uc010inb.3,p.R283Q|uc010ina.3,p.R283Q|ENST00000434046,p.R283Q	protein_coding	uc010inc.3	nonsynonymous SNV	exon2	c.G632A	p.R211Q	IQESEAGDAGLPRVEVILDCSDRQK	IQESEAGDAGLPQVEVILDCSDRQK	5.0	4.0	unscreened	-	4262_4:119948372-119948372 G>A_IQESEAGDAGLPQVEVILDCSDRQK
11:614180-614180 C>T	1.0	4262	COLON	-	-	-	-	IRF7	uc009ycb.3,p.A119T|uc001lqg.3,p.A238T|ENST00000525445,p.A119T|ENST00000397566,p.A238T|NM_001572,p.A225T|ENST00000397574,p.A225T|uc010qwf.2,p.A224T|uc001lqh.3,p.A225T|NM_004031,p.A238T|ENST00000330243,p.A238T	retained_intron, protein_coding, nonsense_mediated_decay	uc010qwf.2	nonsynonymous SNV	exon5	c.G670A	p.A224T	EGQEGLPLTGACAGGPGLPAGELYG	EGQEGLPLTGACTGGPGLPAGELYG	6.0	5.0	-	-	4262_11:614180-614180 C>T_EGQEGLPLTGACTGGPGLPAGELYG
20:43727273-43727273 C>T	0.0	4262	COLON	-	-	-	-	KCNS1	ENST00000306117,p.R47Q|uc002xnd.3,p.R47Q|NM_002251,p.R47Q|uc002xnc.3,p.R47Q|ENST00000537075,p.R47Q	protein_coding	uc002xnd.3	nonsynonymous SNV	exon3	c.G140A	p.R47Q	EFPGPDTGIRWRRSDEALRVNVGGV	EFPGPDTGIRWRQSDEALRVNVGGV	3.0	4.0	-	-	4262_20:43727273-43727273 C>T_EFPGPDTGIRWRQSDEALRVNVGGV
10:37451723-37451723 A>C	0.0	4262	COLON	-	-	-	-	ANKRD30A	ENST00000602533,p.K594T|uc021ppc.1,p.K594T|ENST00000361713,p.K594T|NM_052997,p.K594T|ENST00000374660,p.K594T|uc001iza.1,p.K594T	protein_coding, processed_transcript	uc021ppc.1	nonsynonymous SNV	exon17	c.A1781C	p.K594T	KPSAFEPATEMQKSVPNKALELKNE	KPSAFEPATEMQTSVPNKALELKNE	4.0	4.0	-	-	4262_10:37451723-37451723 A>C_KPSAFEPATEMQTSVPNKALELKNE
11:404557-404563 CCTGGGC>-	1.0	4262	COLON	-	-	-	-	PKP3	uc021qbk.1,p.F809fs|NM_007183,p.F794fs|ENST00000331563,p.F794fs|uc001lpc.3,p.F794fs	retained_intron, protein_coding, processed_transcript	uc021qbk.1	frameshift deletion	exon14	c.2427_2433del	p.F809fs	RDFRAKGYRKEDFLGP	RDFRAKGYRKEDFH	8.0	7.0	-	-	4262_11:404557-404563 CCTGGGC>-_RDFRAKGYRKEDFH
19:58017744-58017744 A>C	1.0	4262	COLON	-	-	-	-	ZNF773	uc002qoy.3,p.K93T|uc002qox.3,p.K94T|NM_198542,p.K94T|ENST00000598770,p.K93T|ENST00000282292,p.K94T	retained_intron, protein_coding, nonsense_mediated_decay	uc002qoy.3	nonsynonymous SNV	exon4	c.A278C	p.K93T	TSAILRGSWQGAKAEAAAEQSASVE	TSAILRGSWQGATAEAAAEQSASVE	6.0	4.0	-	-	4262_19:58017744-58017744 A>C_TSAILRGSWQGATAEAAAEQSASVE
22:24891408-24891408 T>A	0.0	4262	COLON	-	-	-	-	UPB1	NM_016327,p.L13M|ENST00000326010,p.L13M|ENST00000415388,p.L13M|uc003aaf.3,p.L13M|ENST00000382760,p.L13M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003aaf.3	nonsynonymous SNV	exon1	c.T37A	p.L13M	MAGAEWKSLEECLEKHLPLPDLQEV	MAGAEWKSLEECMEKHLPLPDLQEV	3.0	7.0	-	-	4262_22:24891408-24891408 T>A_MAGAEWKSLEECMEKHLPLPDLQEV
9:39149855-39149855 C>A	0.0	4262	COLON	-	-	-	-	CNTNAP3	uc004abi.3,p.A533S|uc004abj.3,p.A533S|uc004abk.1,p.A533S|ENST00000377656,p.A533S|ENST00000358144,p.A445S|ENST00000297668,p.A533S|NM_033655,p.A533S|ENST00000377659,p.A533S	protein_coding, processed_transcript, nonsense_mediated_decay	uc004abk.1	nonsynonymous SNV	exon10	c.G1597T	p.A533S	DKAVDPILVQQGALGSFRDLQIDSC	DKAVDPILVQQGSLGSFRDLQIDSC	5.0	7.0	unscreened	-	4262_9:39149855-39149855 C>A_DKAVDPILVQQGSLGSFRDLQIDSC
6:84233632-84233632 C>A	0.0	4262	COLON	-	-	-	-	PRSS35	ENST00000369700,p.L158I|ENST00000536636,p.L158I|NM_153362,p.L158I|uc010kbm.3,p.L158I|uc003pjz.3,p.L158I|uc021zce.1,p.L158I|NM_001170423,p.L158I	protein_coding	uc021zce.1	nonsynonymous SNV	exon1	c.C472A	p.L158I	TAVKLSTGCSGILISPQHVLTAAHC	TAVKLSTGCSGIIISPQHVLTAAHC	4.0	5.0	-	-	4262_6:84233632-84233632 C>A_TAVKLSTGCSGIIISPQHVLTAAHC
X:35989999-35989999 T>G	0.0	4262	COLON	-	-	-	-	CXorf22	uc004ddj.3,p.L724R|ENST00000493930,p.L724R|NM_152632,p.L724R|ENST00000297866,p.L724R	protein_coding, nonsense_mediated_decay	uc004ddj.3	nonsynonymous SNV	exon13	c.T2171G	p.L724R	EEESVRRKVLKGLKSEPSTPQEKHD	EEESVRRKVLKGRKSEPSTPQEKHD	4.0	3.0	-	-	4262_X:35989999-35989999 T>G_EEESVRRKVLKGRKSEPSTPQEKHD
7:147926800-147926800 C>A	0.0	4262	COLON	-	-	-	2	CNTNAP2	ENST00000538075,p.H163N|NM_014141,p.H1104N|ENST00000361727,p.H1104N|uc003weu.2,p.H1104N	protein_coding, processed_transcript	uc003weu.2	nonsynonymous SNV	exon20	c.C3310A	p.H1104N	GGTREPYNIDVDHRNMANGQPHSVN	GGTREPYNIDVDNRNMANGQPHSVN	5.0	4.0	-	-	4262_7:147926800-147926800 C>A_GGTREPYNIDVDNRNMANGQPHSVN
2:141625218-141625218 T>G	0.0	4262	COLON	-	-	-	1	LRP1B	ENST00000389484,p.Q1507P|NM_018557,p.Q1507P|ENST00000434794,p.Q652P|uc010fnl.1,p.Q689P|uc002tvj.1,p.Q1507P	protein_coding, processed_transcript	uc010fnl.1	nonsynonymous SNV	exon12	c.A2066C	p.Q689P	ANKWTGQNVSVIQKTSAQPFDLQIY	ANKWTGQNVSVIPKTSAQPFDLQIY	4.0	8.0	-	-	4262_2:141625218-141625218 T>G_ANKWTGQNVSVIPKTSAQPFDLQIY
10:51562354-51562354 A>C	0.0	4262	COLON	-	-	-	-	MSMB	uc001jiq.3,p.K100T|ENST00000358559,p.K100T|NM_002443,p.K100T	protein_coding, processed_transcript	uc001jiq.3	nonsynonymous SNV	exon4	c.A299C	p.K100T	FKKEDCKYIVVEKKDPKKTCSVSEW	FKKEDCKYIVVETKDPKKTCSVSEW	4.0	3.0	-	-	4262_10:51562354-51562354 A>C_FKKEDCKYIVVETKDPKKTCSVSEW
6:43306982-43306982 C>T	1.0	4262	COLON	-	-	-	-	ZNF318	ENST00000361428,p.G1585E|NM_014345,p.G1585E|uc003oux.3,p.G1585E	protein_coding	uc003oux.3	nonsynonymous SNV	exon10	c.G4754A	p.G1585E	YSSGGKGAPETKGAPETKLSGGPLA	YSSGGKGAPETKEAPETKLSGGPLA	7.0	5.0	-	-	4262_6:43306982-43306982 C>T_YSSGGKGAPETKEAPETKLSGGPLA
22:24891408-24891408 T>A	0.0	4262	COLON	-	-	-	-	UPB1	ENST00000413389,p.L2H|uc003aae.3,p.L2H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003aae.3	nonsynonymous SNV	exon2	c.T5A	p.L2H	MLGEAPAAPRLAGS	MHGEAPAAPRLAGS	3.0	7.0	-	-	4262_22:24891408-24891408 T>A_MHGEAPAAPRLAGS
1:110200397-110200397 G>A	1.0	4262	COLON	-	-	-	-	GSTM4	ENST00000369836,p.G88E|ENST00000326729,p.G88E|uc001dyf.3,p.G88E|NM_000850,p.G88E|NM_147148,p.G88E|ENST00000369833,p.G47E|uc001dyh.2,p.G88E	protein_coding, processed_transcript	uc001dyh.2	nonsynonymous SNV	exon5	c.G263A	p.G88E	ILCYIARKHNLCGETEEEKIRVDIL	ILCYIARKHNLCEETEEEKIRVDIL	10.0	5.0	-	-	4262_1:110200397-110200397 G>A_ILCYIARKHNLCEETEEEKIRVDIL
9:105767823-105767823 G>A	0.0	4262	COLON	-	-	ID=COSM486848;OCCURENCE=1(kidney)	-	CYLC2	ENST00000487798,p.A304T|NM_001340,p.A304T|ENST00000374798,p.A304T|uc004bbs.2,p.A304T	protein_coding, processed_transcript	uc004bbs.2	nonsynonymous SNV	exon5	c.G910A	p.A304T	SKKDATKDAKKVAKKDTEKESADSK	SKKDATKDAKKVTKKDTEKESADSK	4.0	3.0	-	-	4262_9:105767823-105767823 G>A_SKKDATKDAKKVTKKDTEKESADSK
2:99443475-99443475 C>T	1.0	4262	COLON	-	-	-	-	KIAA1211L	ENST00000397899,p.R233H|uc002szf.1,p.R233H|NM_207362,p.R233H	protein_coding, processed_transcript	uc002szf.1	nonsynonymous SNV	exon6	c.G698A	p.R233H	NSAAKHKLQVKPRNQRSSKMRRLSS	NSAAKHKLQVKPHNQRSSKMRRLSS	6.0	4.0	-	-	4262_2:99443475-99443475 C>T_NSAAKHKLQVKPHNQRSSKMRRLSS
6:130505670-130505670 G>A	0.0	4262	COLON	-	-	-	-	SAMD3	uc003qbx.4,p.A161V|ENST00000531544,p.A161V|ENST00000439090,p.A161V|ENST00000532763,p.A159V|uc003qby.4,p.A161V|ENST00000324172,p.A161V|uc003qbz.1,p.A120V|uc003qbw.4,p.A161V|NM_001277185,p.A185V|ENST00000437477,p.A161V|ENST00000368134,p.A161V|ENST00000457563,p.A185V|NM_001258275,p.A161V|uc010kfg.2,p.A161V|ENST00000532309,p.A160V|uc031spp.1,p.A185V|NM_001017373,p.A161V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031spp.1	nonsynonymous SNV	exon5	c.C554T	p.A185V	LPEFPYDVKCMLAEQKCPDHSMRIR	LPEFPYDVKCMLVEQKCPDHSMRIR	4.0	7.0	-	-	4262_6:130505670-130505670 G>A_LPEFPYDVKCMLVEQKCPDHSMRIR
11:614180-614180 C>T	1.0	4262	COLON	-	-	-	-	IRF7	NM_004029,p.A225T|uc001lqi.3,p.A225T|ENST00000348655,p.A225T|uc031pxz.1,p.A238T|ENST00000397570,p.A225T	retained_intron, protein_coding, nonsense_mediated_decay	uc031pxz.1	nonsynonymous SNV	exon4	c.G712A	p.A238T	EGQEGLPLTGACAGGEAAAPESPHQ	EGQEGLPLTGACTGGEAAAPESPHQ	6.0	5.0	-	-	4262_11:614180-614180 C>T_EGQEGLPLTGACTGGEAAAPESPHQ
19:52090216-52090216 T>G	0.0	4262	COLON	-	-	-	-	ZNF175	NM_007147,p.V211G|uc002pxb.3,p.V211G|ENST00000262259,p.V211G	protein_coding	uc002pxb.3	nonsynonymous SNV	exon5	c.T632G	p.V211G	CLFTESLKLNLEVNGQNESNDTEQL	CLFTESLKLNLEGNGQNESNDTEQL	6.0	4.0	-	-	4262_19:52090216-52090216 T>G_CLFTESLKLNLEGNGQNESNDTEQL
16:66592095-66592098 ACTA>-	1.0	4262	COLON	-	-	-	-	CKLF,CKLF-CMTM1	uc002eot.3,p.A27fs|ENST00000417030,p.A27fs|uc002eow.3,p.A27fs|uc002eox.2,p.A27fs|ENST00000264001,p.A27fs|NM_001204099,p.A27fs|ENST00000345436,p.A27fs|NM_181641,p.A27fs|NM_016951,p.A27fs|uc021tjt.1,p.A27fs|NM_001040138,p.A27fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tjt.1	frameshift deletion	exon2	c.81_84del	p.A27fs	FSVKGHVKMLRLALTVTSMTFFIIA	FSVKGHVKMLRLAL	10.0	7.0	-	-	4262_16:66592095-66592098 ACTA>-_FSVKGHVKMLRLAL
11:3735086-3735132 TGAATTGAGCTCCCTGTTTCCTTGAAACTGCTTCCAATCTTCCTTCA>-	0.0	4262	COLON	-	-	-	1	NUP98	ENST00000397004,p.Y831fs|ENST00000324932,p.Y831fs|uc001lyh.3,p.Y831fs|NM_005387,p.Y848fs|uc001lyk.2,p.Y848fs|NM_139132,p.Y831fs|NM_139131,p.Y831fs|NM_016320,p.Y831fs|ENST00000359171,p.Y831fs|ENST00000397007,p.Y848fs|ENST00000355260,p.Y831fs|uc001lyj.2,p.Y831fs|uc001lyi.3,p.Y831fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lyk.2	frameshift deletion	exon19	c.2544_2590del	p.Y848fs	LIKSPDRLADINYEGRLEAVSRKQG	LIKSPDRLADIN	9.0	1.0	-	-	4262_11:3735086-3735132 TGAATTGAGCTCCCTGTTTCCTTGAAACTGCTTCCAATCTTCCTTCA>-_LIKSPDRLADIN
5:115141133-115141135 GTT>-	0.0	4262	COLON	-	-	-	-	CDO1	uc003krg.3,p.200_200del|NM_001801,p.200_200del|ENST00000250535,p.200_200del	protein_coding, processed_transcript	uc003krg.3	nonframeshift deletion	exon5	c.598_600del	p.200_200del	RTPNATSGSLENN	RTPNATSGSLEN	3.0	2.0	-	-	4262_5:115141133-115141135 GTT>-_RTPNATSGSLEN
12:26276018-26276018 G>C	1.0	4264	ESOPHAGEAL	-	-	-	-	BHLHE41	uc001rhb.3,p.Q144E|NM_030762,p.Q144E|ENST00000242728,p.Q144E	retained_intron, protein_coding	uc001rhb.3	nonsynonymous SNV	exon5	c.C430G	p.Q144E	HSGFQTCAKEVLQYLSRFESWTPRE	HSGFQTCAKEVLEYLSRFESWTPRE	7.0	5.0	-	-	4264_12:26276018-26276018 G>C_HSGFQTCAKEVLEYLSRFESWTPRE
11:615180-615180 C>G	1.0	4264	ESOPHAGEAL	-	-	-	-	IRF7	NM_004031,p.D47H|ENST00000469048,p.D34H|ENST00000397566,p.D47H|ENST00000532326,p.D34H|uc031pxz.1,p.D47H|ENST00000533182,p.D34H|ENST00000348655,p.D34H|uc001lqi.3,p.D34H|ENST00000533190,p.D34H|ENST00000330243,p.D47H|NM_001572,p.D34H|NM_004029,p.D34H|uc001lqg.3,p.D47H|ENST00000397574,p.D34H|uc010qwf.2,p.D34H|uc001lqh.3,p.D34H|ENST00000397570,p.D34H|ENST00000532788,p.D47H	retained_intron, protein_coding, nonsense_mediated_decay	uc031pxz.1	nonsynonymous SNV	exon1	c.G139C	p.D47H	ISSGCYEGLQWLDEARTCFRVPWKH	ISSGCYEGLQWLHEARTCFRVPWKH	9.0	7.0	-	-	4264_11:615180-615180 C>G_ISSGCYEGLQWLHEARTCFRVPWKH
12:105570784-105570784 G>T	1.0	4264	ESOPHAGEAL	-	-	ID=COSM1183286;OCCURENCE=1(large_intestine)	-	APPL2	ENST00000551662,p.T567N|ENST00000258530,p.T561N|uc010swt.2,p.T518N|uc001tlg.1,p.T315N|ENST00000553109,p.T92N|ENST00000539978,p.T518N|NM_018171,p.T561N|uc001tlf.1,p.T561N|uc010swu.1,p.T567N|NM_001251905,p.T518N|NM_001251904,p.T567N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010swu.1	nonsynonymous SNV	exon19	c.C1700A	p.T567N	PQTQVSRANFELTSVTQFAAHQENK	PQTQVSRANFELNSVTQFAAHQENK	9.0	7.0	-	-	4264_12:105570784-105570784 G>T_PQTQVSRANFELNSVTQFAAHQENK
14:24664027-24664027 A>G	1.0	4264	ESOPHAGEAL	-	-	-	-	TM9SF1	ENST00000525592,p.C67R|NM_001014842,p.C67R|ENST00000396854,p.C67R|uc010tob.1,p.C302R|NM_006405,p.C67R|ENST00000261789,p.C67R|ENST00000530468,p.C67R|uc001wnc.3,p.C67R|ENST00000528895,p.C67R|ENST00000528669,p.C67R|ENST00000556387,p.C276R|uc001wnb.1,p.C67R|ENST00000528010,p.C67R|ENST00000529332,p.C67R|ENST00000530611,p.C276R	retained_intron, protein_coding, nonsense_mediated_decay,protein_coding	uc010tob.1	nonsynonymous SNV	exon6	c.T904C	p.C302R	PQETYHYYQLPVCCPEKIRHKSLSL	PQETYHYYQLPVRCPEKIRHKSLSL	9.0	6.0	-	-	4264_14:24664027-24664027 A>G_PQETYHYYQLPVRCPEKIRHKSLSL
7:87027887-87027887 C>T	1.0	4264	ESOPHAGEAL	-	-	-	-	CROT	NM_001143935,p.A617V|uc003uit.3,p.A589V|NM_021151,p.A589V|ENST00000419147,p.A617V|ENST00000331536,p.A589V|uc003uiu.3,p.A617V	retained_intron, protein_coding	uc003uiu.3	nonsynonymous SNV	exon19	c.C1850T	p.A617V	ACSAWKSCPETDAEKLVQLTFCAFH	ACSAWKSCPETDVEKLVQLTFCAFH	8.0	3.0	-	-	4264_7:87027887-87027887 C>T_ACSAWKSCPETDVEKLVQLTFCAFH
10:100179804-100179804 T>A	1.0	4264	ESOPHAGEAL	-	-	-	-	HPS1	ENST00000361490,p.M619L|ENST00000325103,p.M619L|NM_000195,p.M619L|uc021pwv.1,p.M619L	protein_coding, processed_transcript	uc021pwv.1	nonsynonymous SNV	exon18	c.A1855T	p.M619L	FYCSYFLWFENDMGYKLQMIEVPVL	FYCSYFLWFENDLGYKLQMIEVPVL	9.0	7.0	-	-	4264_10:100179804-100179804 T>A_FYCSYFLWFENDLGYKLQMIEVPVL
1:1325866-1325866 C>G	1.0	4264	ESOPHAGEAL	-	-	-	-	CCNL2	ENST00000408952,p.K57N|uc001aff.1,p.K57N|uc001afi.2,p.K279N|ENST00000400809,p.K279N|uc001afj.2,p.K57N|NM_030937,p.K279N|uc001afg.1,p.K57N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001afj.2	nonsynonymous SNV	exon8	c.G171C	p.K57N	GATEEEIQEICLKILQLYARKKVDL	GATEEEIQEICLNILQLYARKKVDL	9.0	8.0	-	-	4264_1:1325866-1325866 C>G_GATEEEIQEICLNILQLYARKKVDL
14:64520247-64520247 A>T	1.0	4264	ESOPHAGEAL	-	-	-	-	SYNE2	ENST00000358025,p.I3206F|NM_015180,p.I3206F|uc021ruh.1,p.I3239F|ENST00000554584,p.I3239F|ENST00000344113,p.I3206F|uc001xgm.3,p.I3206F|NM_182914,p.I3206F|uc001xgl.3,p.I3206F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ruh.1	nonsynonymous SNV	exon48	c.A9715T	p.I3239F	AFQEQVWAEMCSIKAVTAIEKQREE	AFQEQVWAEMCSFKAVTAIEKQREE	9.0	10.0	-	-	4264_14:64520247-64520247 A>T_AFQEQVWAEMCSFKAVTAIEKQREE
6:8422725-8422725 ->A	1.0	4264	ESOPHAGEAL	-	-	-	-	SLC35B3	uc011did.2,p.M184fs|NM_001142541,p.M184fs|ENST00000379660,p.M184fs|uc003myb.3,p.M184fs|ENST00000339306,p.M184fs|NM_015948,p.M184fs|uc010joe.3,p.M184fs	protein_coding	uc011did.2	frameshift insertion	exon5	c.551dupT	p.M184fs	QVIFKCCKLIPVMLGGVFIQGKRYN	QVIFKCCKLIPVIARRSFYSRKAL	8.0	8.0	-	-	4264_6:8422725-8422725 ->A_QVIFKCCKLIPVIARRSFYSRKAL
7:55268045-55268045 G>A	1.0	4264	ESOPHAGEAL	0.0009	-	-	1	EGFR	uc010kzg.2,p.R917H|uc011kco.2,p.R909H|uc022adm.1,p.R962H|NM_005228,p.R962H|ENST00000455089,p.R917H|ENST00000275493,p.R962H|ENST00000454757,p.R909H|uc022adn.1,p.R917H|uc003tqk.3,p.R962H	retained_intron, protein_coding, processed_transcript	uc022adn.1	nonsynonymous SNV	exon23	c.G2750A	p.R917H	CWMIDADSRPKFRELIIEFSKMARD	CWMIDADSRPKFHELIIEFSKMARD	9.0	4.0	-	-	4264_7:55268045-55268045 G>A_CWMIDADSRPKFHELIIEFSKMARD
11:46678662-46678662 G>T	1.0	4264	ESOPHAGEAL	-	-	-	-	ATG13	ENST00000528494,p.V173F|uc001nda.3,p.V173F|ENST00000529655,p.V173F|NM_001205119,p.V173F|ENST00000451945,p.V173F|ENST00000312040,p.V173F|ENST00000395549,p.V173F|NM_001205122,p.V94F|ENST00000524625,p.V173F|uc001ncz.3,p.V173F|ENST00000434074,p.V173F|NM_001205121,p.V173F|ENST00000526508,p.V173F|uc001ndb.3,p.V173F|uc001ndc.3,p.V173F|uc009yld.3,p.V173F|NM_001142673,p.V173F|uc010rgv.2,p.V94F|ENST00000530500,p.V94F|NM_001205120,p.V173F|ENST00000359513,p.V173F|NM_014741,p.V173F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rgv.2	nonsynonymous SNV	exon7	c.G280T	p.V94F	LSGLGEGFQTVRVGTVGTPVGTITL	LSGLGEGFQTVRFGTVGTPVGTITL	9.0	6.0	-	-	4264_11:46678662-46678662 G>T_LSGLGEGFQTVRFGTVGTPVGTITL
3:169999735-169999735 A>C	1.0	4264	ESOPHAGEAL	-	-	-	-	PRKCI	ENST00000295797,p.K349T|NM_002740,p.K349T|uc003fgs.2,p.K349T	retained_intron, protein_coding	uc003fgs.2	nonsynonymous SNV	exon11	c.A1046C	p.K349T	GGDLMFHMQRQRKLPEEHARFYSAE	GGDLMFHMQRQRTLPEEHARFYSAE	9.0	1.0	-	-	4264_3:169999735-169999735 A>C_GGDLMFHMQRQRTLPEEHARFYSAE
7:121731897-121731897 T>A	1.0	4264	ESOPHAGEAL	-	-	-	-	AASS	ENST00000417368,p.I626F|ENST00000358954,p.I626F|uc011knw.2,p.I114F|NM_005763,p.I626F|uc003vkb.3,p.I626F|ENST00000393376,p.I626F|uc003vka.3,p.I626F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011knw.2	nonsynonymous SNV	exon7	c.A340T	p.I114F	ETIDKAKEVGATIESYISYCGGLPA	ETIDKAKEVGATFESYISYCGGLPA	6.0	4.0	-	-	4264_7:121731897-121731897 T>A_ETIDKAKEVGATFESYISYCGGLPA
10:17271776-17271776 G>A	1.0	4264	ESOPHAGEAL	-	-	-	-	VIM	uc001iou.2,p.D119N|NM_003380,p.D119N|ENST00000544301,p.D119N|ENST00000487938,p.D119N|ENST00000224237,p.D119N	protein_coding, processed_transcript, nonsense_mediated_decay	uc001iou.2	nonsynonymous SNV	exon2	c.G355A	p.D119N	LQELNDRFANYIDKVRFLEQQNKIL	LQELNDRFANYINKVRFLEQQNKIL	10.0	9.0	-	-	4264_10:17271776-17271776 G>A_LQELNDRFANYINKVRFLEQQNKIL
5:132161381-132161381 C>T	1.0	4264	ESOPHAGEAL	-	-	-	-	SHROOM1	uc003kxy.2,p.R151Q|ENST00000319854,p.R151Q|ENST00000378676,p.R151Q|NM_133456,p.R151Q|ENST00000440118,p.R151Q|NM_001172700,p.R151Q|uc003kxx.3,p.R151Q|ENST00000378679,p.R151Q	protein_coding, processed_transcript	uc003kxy.2	nonsynonymous SNV	exon1	c.G452A	p.R151Q	AAYRQRLQGAQRRVLRETSFQRKEL	AAYRQRLQGAQRQVLRETSFQRKEL	6.0	6.0	-	-	4264_5:132161381-132161381 C>T_AAYRQRLQGAQRQVLRETSFQRKEL
12:1025578-1025578 T>A	1.0	4264	ESOPHAGEAL	-	-	-	-	RAD52	ENST00000358495,p.Q266L|uc001qit.2,p.Q55L|uc001qis.1,p.Q266L|uc010sdt.1,p.Q189L|NM_001297421,p.Q189L|uc001qiu.1,p.Q266L|uc001qiw.2,p.Q55L|NM_001297419,p.Q266L|ENST00000430095,p.Q266L|NM_134424,p.Q266L|ENST00000539046,p.Q189L|uc031qfl.1,p.Q55L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qfl.1	nonsynonymous SNV	exon8	c.A164T	p.Q55L	THQRKLRQKQLQQQFRERMEKQQVR	THQRKLRQKQLQLQFRERMEKQQVR	7.0	9.0	-	-	4264_12:1025578-1025578 T>A_THQRKLRQKQLQLQFRERMEKQQVR
16:77775680-77775680 G>A	1.0	4264	ESOPHAGEAL	-	-	-	-	NUDT7	NM_001243661,p.V131I|ENST00000268533,p.V184I|ENST00000437314,p.V131I|uc021tlq.1,p.V169I|uc010chd.3,p.V184I|NM_001105663,p.V184I|uc010vnj.2,p.V131I|NM_001243660,p.V169I	protein_coding, processed_transcript	uc021tlq.1	nonsynonymous SNV	exon4	c.G505A	p.V169I	NHIFEYTNPEDGVTYQIKGMTANLA	NHIFEYTNPEDGITYQIKGMTANLA	8.0	4.0	-	-	4264_16:77775680-77775680 G>A_NHIFEYTNPEDGITYQIKGMTANLA
6:87970554-87970556 ATA>-	1.0	4264	ESOPHAGEAL	-	-	-	-	ZNF292	ENST00000339907,p.2398_2398del|uc003plm.4,p.2403_2403del|ENST00000369577,p.2403_2403del|NM_015021,p.2403_2403del	protein_coding, processed_transcript	uc003plm.4	nonframeshift deletion	exon8	c.7207_7209del	p.2403_2403del	KGCTSVVTSESNIIRHYKCHKLSKA	KGCTSVVTSESNIRHYKCHKLSKAF	9.0	8.0	-	-	4264_6:87970554-87970556 ATA>-_KGCTSVVTSESNIRHYKCHKLSKAF
13:111992261-111992263 TCA>-	1.0	4264	ESOPHAGEAL	-	-	-	-	TEX29	NM_152324,p.74_75del|uc001vsa.3,p.74_75del|ENST00000283547,p.74_75del	protein_coding, nonsense_mediated_decay	uc001vsa.3	nonframeshift deletion	exon4	c.221_223del	p.74_75del	FSALIVIIAGAFVITIIYRVIQESR	FSALIVIIAGAFVTIIYRVIQESRK	6.0	10.0	-	-	4264_13:111992261-111992263 TCA>-_FSALIVIIAGAFVTIIYRVIQESRK
17:6945707-6945707 A>G	1.0	4264	ESOPHAGEAL	-	-	-	-	SLC16A11	ENST00000308009,p.L265S|ENST00000447225,p.L241S|NM_153357,p.L265S|uc002gei.1,p.L265S	retained_intron, protein_coding	uc002gei.1	nonsynonymous SNV	exon3	c.T794C	p.L265S	LVGGGYFVPYVHLAPHALDRGLGGY	LVGGGYFVPYVHSAPHALDRGLGGY	8.0	9.0	-	-	4264_17:6945707-6945707 A>G_LVGGGYFVPYVHSAPHALDRGLGGY
19:10960997-10960997 G>A	1.0	4264	ESOPHAGEAL	-	-	-	-	C19orf38	uc010dxm.1,p.D32N|ENST00000397820,p.D32N|ENST00000592854,p.D32N|NM_001136482,p.D32N	retained_intron, protein_coding	uc010dxm.1	nonsynonymous SNV	exon2	c.G94A	p.D32N	IRLVPPYPSSQEDPIHIACMAPGNF	IRLVPPYPSSQENPIHIACMAPGNF	7.0	5.0	-	-	4264_19:10960997-10960997 G>A_IRLVPPYPSSQENPIHIACMAPGNF
5:145393458-145393458 A>G	1.0	4264	ESOPHAGEAL	-	-	-	-	SH3RF2	ENST00000359120,p.Q298R|uc003lnt.3,p.Q298R|NM_152550,p.Q298R|uc011dbl.1,p.Q298R|ENST00000511217,p.Q298R	retained_intron, protein_coding, processed_transcript	uc011dbl.1	nonsynonymous SNV	exon4	c.A893G	p.Q298R	RRGPGSRRKVPGQFSITTALNTLNR	RRGPGSRRKVPGRFSITTALNTLNR	6.0	6.0	-	-	4264_5:145393458-145393458 A>G_RRGPGSRRKVPGRFSITTALNTLNR
17:7193037-7193037 G>A	1.0	4264	ESOPHAGEAL	-	-	-	-	YBX2	ENST00000007699,p.R286C|uc002gfq.2,p.R286C|NM_015982,p.R286C	retained_intron, protein_coding, processed_transcript	uc002gfq.2	nonsynonymous SNV	exon7	c.C856T	p.R286C	PPRFRPRYRRPFRPRPRQQPTTEGG	PPRFRPRYRRPFCPRPRQQPTTEGG	7.0	9.0	-	-	4264_17:7193037-7193037 G>A_PPRFRPRYRRPFCPRPRQQPTTEGG
3:146239645-146239645 C>A	1.0	4264	ESOPHAGEAL	-	-	-	-	PLSCR1	ENST00000472349,p.C184F|uc003evx.4,p.C184F|ENST00000462666,p.C160F|uc011bnn.2,p.C103F|ENST00000342435,p.C184F|NM_021105,p.C184F|ENST00000487389,p.C177F|ENST00000486631,p.C103F|ENST00000448787,p.C103F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bnn.2	nonsynonymous SNV	exon5	c.G308T	p.C103F	VITLERPLRCSSCCCPCCLQEIEIQ	VITLERPLRCSSFCCPCCLQEIEIQ	9.0	3.0	-	-	4264_3:146239645-146239645 C>A_VITLERPLRCSSFCCPCCLQEIEIQ
3:137796346-137796346 T>A	1.0	4264	ESOPHAGEAL	-	-	-	-	DZIP1L	ENST00000327532,p.R473W|NM_001170538,p.R473W|uc003err.1,p.R473W|NM_173543,p.R473W|ENST00000469243,p.R473W|uc003erq.3,p.R473W	retained_intron, protein_coding, processed_transcript	uc003err.1	nonsynonymous SNV	exon12	c.A1417T	p.R473W	DTLEEKLESMGIRKDAKGISIQTLR	DTLEEKLESMGIWKDAKGISIQTLR	9.0	3.0	-	-	4264_3:137796346-137796346 T>A_DTLEEKLESMGIWKDAKGISIQTLR
7:121731896-121731896 A>G	1.0	4264	ESOPHAGEAL	-	-	-	-	AASS	ENST00000417368,p.I626T|uc003vkb.3,p.I626T|ENST00000393376,p.I626T|ENST00000358954,p.I626T|uc003vka.3,p.I626T|NM_005763,p.I626T|uc011knw.2,p.I114T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011knw.2	nonsynonymous SNV	exon7	c.T341C	p.I114T	ETIDKAKEVGATIESYISYCGGLPA	ETIDKAKEVGATTESYISYCGGLPA	6.0	4.0	-	-	4264_7:121731896-121731896 A>G_ETIDKAKEVGATTESYISYCGGLPA
2:178098953-178098953 C>A	1.0	4264	ESOPHAGEAL	-	-	ID=COSM1259060;OCCURENCE=1(oesophagus)	1	NFE2L2	uc002ulg.5,p.G15V|NM_001145413,p.G15V|uc002ulh.5,p.G31V|NM_001145412,p.G15V|ENST00000423513,p.G15V|ENST00000397062,p.G31V|ENST00000464747,p.G15V|uc010frb.3,p.G15V|ENST00000446151,p.G15V|uc010fra.3,p.G15V|uc010zfa.3,p.G15V|NM_006164,p.G31V|ENST00000588123,p.G15V|ENST00000586532,p.G30V|ENST00000397063,p.G15V|ENST00000448782,p.G15V|ENST00000421929,p.G15V|ENST00000449627,p.G15V|uc002uli.5,p.G15V	retained_intron, protein_coding	uc010zfa.3	nonsynonymous SNV	exon2	c.G44T	p.G15V	LIDILWRQDIDLGVSREVFDFSQRR	LIDILWRQDIDLVVSREVFDFSQRR	10.0	10.0	-	-	4264_2:178098953-178098953 C>A_LIDILWRQDIDLVVSREVFDFSQRR
1:148751854-148751854 C>T	1.0	4264	ESOPHAGEAL	-	-	-	-	NBPF25P	uc010pba.1,p.R396C|ENST00000417839,p.R396C|uc009wkt.1,p.R176C	protein_coding	uc010pba.1	nonsynonymous SNV	exon10	c.C1186T	p.R396C	PYRSAFYVLEQQRVGLAIDMDEIEK	PYRSAFYVLEQQCVGLAIDMDEIEK	8.0	2.0	unscreened	-	4264_1:148751854-148751854 C>T_PYRSAFYVLEQQCVGLAIDMDEIEK
9:139887147-139887147 G>A	1.0	4264	ESOPHAGEAL	-	-	-	-	C9orf142	ENST00000371620,p.A59T|uc004cki.3,p.A59T|NM_183241,p.A59T	protein_coding, processed_transcript	uc004cki.3	nonsynonymous SNV	exon2	c.G175A	p.A59T	LWSTCFTPDSLAALKARFGLSAAED	LWSTCFTPDSLATLKARFGLSAAED	10.0	9.0	-	-	4264_9:139887147-139887147 G>A_LWSTCFTPDSLATLKARFGLSAAED
5:150922402-150922402 C>G	1.0	4264	ESOPHAGEAL	-	-	-	-	FAT2	NM_001447,p.L2762F|uc003lue.4,p.L2762F|ENST00000261800,p.L2762F	protein_coding	uc003lue.4	nonsynonymous SNV	exon9	c.G8286C	p.L2762F	KVRKPMDHESTKLYQIDVMAHCLQN	KVRKPMDHESTKFYQIDVMAHCLQN	7.0	6.0	-	-	4264_5:150922402-150922402 C>G_KVRKPMDHESTKFYQIDVMAHCLQN
17:7466865-7466865 C>T	1.0	4264	ESOPHAGEAL	-	-	-	-	SENP3	ENST00000429205,p.R158W|uc002ghm.3,p.R158W|ENST00000321337,p.R158W|NM_015670,p.R158W	retained_intron, protein_coding, processed_transcript	uc002ghm.3	nonsynonymous SNV	exon2	c.C472T	p.R158W	FHWKLWGRHRGRRRGLAHPKNHLSP	FHWKLWGRHRGRWRGLAHPKNHLSP	10.0	9.0	-	-	4264_17:7466865-7466865 C>T_FHWKLWGRHRGRWRGLAHPKNHLSP
X:9728809-9728809 G>A	1.0	4264	ESOPHAGEAL	-	-	-	-	GPR143	ENST00000380929,p.S123L|NM_000273,p.S103L|ENST00000431126,p.S19L|ENST00000467482,p.S103L|uc004cst.2,p.S103L	protein_coding, processed_transcript	uc004cst.2	nonsynonymous SNV	exon2	c.C308T	p.S103L	VWLGFPNFVDSVSDMNHTEIWPAAF	VWLGFPNFVDSVLDMNHTEIWPAAF	7.0	9.0	-	-	4264_X:9728809-9728809 G>A_VWLGFPNFVDSVLDMNHTEIWPAAF
19:7686077-7686077 C>T	1.0	4264	ESOPHAGEAL	-	-	-	-	XAB2	ENST00000534844,p.R572Q|NM_020196,p.R575Q|uc002mgx.3,p.R575Q|ENST00000358368,p.R575Q	retained_intron, protein_coding	uc002mgx.3	nonsynonymous SNV	exon13	c.G1724A	p.R575Q	KFIARYGGRKLERARDLFEQALDGC	KFIARYGGRKLEQARDLFEQALDGC	8.0	3.0	-	-	4264_19:7686077-7686077 C>T_KFIARYGGRKLEQARDLFEQALDGC
19:39233142-39233142 C>T	0.0	4264	ESOPHAGEAL	0.0014	-	ID=COSM996140;OCCURENCE=1(endometrium)	-	CAPN12	uc002ojd.1,p.A112T|NM_144691,p.A112T|ENST00000328867,p.A112T	retained_intron, protein_coding, nonsense_mediated_decay	uc002ojd.1	nonsynonymous SNV	exon3	c.G334A	p.A112T	GSLGNCWFLAAAASLTLYPRLLRRV	GSLGNCWFLAAATSLTLYPRLLRRV	9.0	3.0	-	-	4264_19:39233142-39233142 C>T_GSLGNCWFLAAATSLTLYPRLLRRV
19:39233142-39233142 C>T	0.0	4264	ESOPHAGEAL	0.0014	-	ID=COSM996140;OCCURENCE=1(endometrium)	-	CAPN12	ENST00000598684,p.A105T	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000598684	nonsynonymous SNV	exon3	c.G313A	p.A105T	SRTDVCQGSLAAASLTLYPRLLRRV	SRTDVCQGSLAATSLTLYPRLLRRV	9.0	3.0	-	-	4264_19:39233142-39233142 C>T_SRTDVCQGSLAATSLTLYPRLLRRV
11:126136466-126136466 C>T	1.0	4264	ESOPHAGEAL	-	-	-	-	SRPR	ENST00000332118,p.E249K|NM_003139,p.E249K|uc010sbm.2,p.E221K|ENST00000532259,p.E221K|NM_001177842,p.E221K|uc001qdh.3,p.E249K	retained_intron, protein_coding, processed_transcript	uc010sbm.2	nonsynonymous SNV	exon5	c.G661A	p.E221K	PKEKGKKAPRVWELGGCANKEVLDY	PKEKGKKAPRVWKLGGCANKEVLDY	9.0	5.0	-	-	4264_11:126136466-126136466 C>T_PKEKGKKAPRVWKLGGCANKEVLDY
17:7577085-7577085 C>T	1.0	4264	ESOPHAGEAL	-	-	ID=COSM137087,COSM1649345,COSM10722,COSM3717625;OCCURENCE=1(eye),5(liver),2(pancreas),1(adrenal_gland),43(urinary_tract),3(biliary_tract),9(large_intestine),2(prostate),15(breast),4(skin),2(ovary),1(soft_tissue),5(haematopoietic_and_lymphoid_tissue),5(lung),1(thyroid),2(upper_aerodigestive_tract),4(oesophagus),3(central_nervous_system),5(stomach)	1	TP53	ENST00000359597,p.E285K|uc002gij.3,p.E246K|NM_001276760,p.E246K|ENST00000509690,p.E153K|NM_001126114,p.E285K|uc002gii.2,p.E126K|uc010cnf.2,p.E126K|NM_000546,p.E285K|NM_001276761,p.E246K|NM_001126115,p.E153K|ENST00000445888,p.E285K|NM_001126118,p.E246K|NM_001276695,p.E246K|ENST00000269305,p.E285K|NM_001276698,p.E126K|uc010cng.2,p.E126K|NM_001276696,p.E246K|ENST00000455263,p.E285K|uc031qyq.1,p.E246K|NM_001126116,p.E153K|NM_001126112,p.E285K|NM_001126113,p.E285K|NM_001276699,p.E126K|uc002gih.3,p.E285K|ENST00000420246,p.E285K|NM_001276697,p.E126K|NM_001126117,p.E153K	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon7	c.G736A	p.E246K	RVCACPGRDRRTEEENLRKKGEPHH	RVCACPGRDRRTKEENLRKKGEPHH	9.0	10.0	-	-	4264_17:7577085-7577085 C>T_RVCACPGRDRRTKEENLRKKGEPHH
6:161514868-161514868 A>G	1.0	4264	ESOPHAGEAL	-	-	-	-	MAP3K4	ENST00000348824,p.T1138A|uc010kkc.2,p.T1117A|NM_001301072,p.T1138A|ENST00000366920,p.T1138A|uc003qtp.3,p.T128A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kkc.2	nonsynonymous SNV	exon15	c.A3349G	p.T1117A	IGHVIGKPHSPVTAIHRNSPRPMKV	IGHVIGKPHSPVAAIHRNSPRPMKV	8.0	7.0	-	-	4264_6:161514868-161514868 A>G_IGHVIGKPHSPVAAIHRNSPRPMKV
2:208589553-208589553 C>T	1.0	4264	ESOPHAGEAL	-	-	-	-	CCNYL1	ENST00000392209,p.H14Y|NM_001142300,p.H84Y|uc002vch.3,p.H14Y|ENST00000339882,p.H84Y|NM_152523,p.H14Y|uc002vci.3,p.H84Y|ENST00000295414,p.H84Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc002vci.3	nonsynonymous SNV	exon2	c.C250T	p.H84Y	PEDLALESNPSDHPRASTIFLSKSQ	PEDLALESNPSDYPRASTIFLSKSQ	7.0	10.0	CD8	-	4264_2:208589553-208589553 C>T_PEDLALESNPSDYPRASTIFLSKSQ
1:161953697-161953697 C>T	1.0	4264	ESOPHAGEAL	-	-	-	-	OLFML2B	NM_015441,p.G674D|ENST00000294794,p.G674D|uc001gbu.3,p.G674D|ENST00000367940,p.G675D|NM_001297713,p.G675D|uc010pkq.2,p.G675D|ENST00000367938,p.G157D|ENST00000533556,p.G14D|uc001gbt.3,p.G157D	protein_coding, processed_transcript, nonsense_mediated_decay	uc010pkq.2	nonsynonymous SNV	exon8	c.G2024A	p.G675D	TTWRTGLRRNFYGNCFVICGVLYAV	TTWRTGLRRNFYDNCFVICGVLYAV	10.0	9.0	-	-	4264_1:161953697-161953697 C>T_TTWRTGLRRNFYDNCFVICGVLYAV
3:179460051-179460051 T>G	1.0	4264	ESOPHAGEAL	-	-	-	-	USP13	ENST00000497155,p.C129G|uc003fkh.3,p.C483G|NM_003940,p.C483G|ENST00000263966,p.C483G|ENST00000496897,p.C418G	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fkh.3	nonsynonymous SNV	exon12	c.T1447G	p.C483G	DVFRFLVEERIQCCQTRKVRYTERV	DVFRFLVEERIQGCQTRKVRYTERV	7.0	2.0	-	-	4264_3:179460051-179460051 T>G_DVFRFLVEERIQGCQTRKVRYTERV
19:41092713-41092713 G>T	1.0	4264	ESOPHAGEAL	-	-	-	-	SHKBP1	uc010xvl.1,p.G323V|uc010xvn.2,p.G278V|ENST00000291842,p.G400V|uc002ooe.3,p.G237V|ENST00000593764,p.G48V|NM_138392,p.G400V|uc002oob.3,p.G400V|uc002ooc.3,p.G375V|ENST00000600733,p.G375V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xvn.2	nonsynonymous SNV	exon7	c.G833T	p.G278V	TSDSGNWIEIAYGTSSGGVRVIVQH	TSDSGNWIEIAYVTSSGGVRVIVQH	10.0	2.0	-	-	4264_19:41092713-41092713 G>T_TSDSGNWIEIAYVTSSGGVRVIVQH
9:88261247-88261247 G>C	1.0	4264	ESOPHAGEAL	-	-	-	-	AGTPBP1	NM_001286715,p.Q444E|ENST00000376083,p.Q352E|NM_015239,p.Q352E|ENST00000357081,p.Q392E|uc011lte.2,p.Q404E|uc011ltd.2,p.Q392E|ENST00000376109,p.Q404E|uc011ltc.2,p.Q290E|ENST00000432218,p.Q230E|NM_001286717,p.Q404E|uc010mqc.3,p.Q352E	protein_coding, processed_transcript	uc011lte.2	nonsynonymous SNV	exon11	c.C1210G	p.Q404E	AENETENEDDLDQNFKNDDIETDIN	AENETENEDDLDENFKNDDIETDIN	7.0	1.0	unscreened	-	4264_9:88261247-88261247 G>C_AENETENEDDLDENFKNDDIETDIN
4:40809128-40809128 C>G	0.0	4264	ESOPHAGEAL	-	-	-	-	NSUN7	NM_024677,p.S484C|uc003gvj.4,p.S484C|ENST00000381782,p.S484C	retained_intron, protein_coding, processed_transcript	uc003gvj.4	nonsynonymous SNV	exon11	c.C1451G	p.S484C	VLPLCSLKEIQLSTDKFFRMEPSEI	VLPLCSLKEIQLCTDKFFRMEPSEI	6.0	8.0	-	-	4264_4:40809128-40809128 C>G_VLPLCSLKEIQLCTDKFFRMEPSEI
11:64786068-64786068 G>T	1.0	4264	ESOPHAGEAL	-	-	-	-	ARL2	uc001och.4,p.G68C|NM_001667,p.G68C|ENST00000533729,p.G68C|uc010rnu.2,p.G68C|ENST00000529384,p.G68C|ENST00000246747,p.G68C|NM_001199745,p.G68C|uc021qlc.1,p.G68C	retained_intron, protein_coding	uc021qlc.1	nonsynonymous SNV	exon3	c.G202T	p.G68C	EHRGFKLNIWDVGGQKSLRSYWRNY	EHRGFKLNIWDVCGQKSLRSYWRNY	10.0	6.0	-	-	4264_11:64786068-64786068 G>T_EHRGFKLNIWDVCGQKSLRSYWRNY
19:13220395-13220395 C>T	1.0	4264	ESOPHAGEAL	-	-	-	-	TRMT1	ENST00000437766,p.R427Q|NM_001136035,p.R427Q|ENST00000357720,p.R427Q|uc002mwj.2,p.R427Q|NM_017722,p.R427Q|ENST00000221504,p.R398Q|uc010xmz.1,p.R213Q|uc002mwk.2,p.R398Q|NM_001142554,p.R398Q|uc010xmy.1,p.R31Q|uc002mwl.3,p.R427Q|ENST00000592062,p.R427Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xmz.1	nonsynonymous SNV	exon11	c.G638A	p.R213Q	VSANPGRFHTSERIRGVLSVITEEL	VSANPGRFHTSEQIRGVLSVITEEL	9.0	6.0	-	-	4264_19:13220395-13220395 C>T_VSANPGRFHTSEQIRGVLSVITEEL
19:38573113-38573113 G>A	1.0	4264	ESOPHAGEAL	-	-	-	-	SIPA1L3	NM_015073,p.R303Q|ENST00000222345,p.R303Q|uc002ohk.3,p.R303Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ohk.3	nonsynonymous SNV	exon3	c.G908A	p.R303Q	LGGGDTVDSSIFRKLRSSKPEGEAG	LGGGDTVDSSIFQKLRSSKPEGEAG	8.0	2.0	-	-	4264_19:38573113-38573113 G>A_LGGGDTVDSSIFQKLRSSKPEGEAG
3:49760097-49760097 C>A	1.0	4264	ESOPHAGEAL	-	-	-	-	GMPPB	NM_021971,p.V165L|ENST00000480687,p.V165L|uc003cxl.1,p.V165L|NM_013334,p.V165L|uc003cxk.1,p.V165L|ENST00000308388,p.V165L|ENST00000308375,p.V165L	retained_intron, protein_coding	uc003cxl.1	nonsynonymous SNV	exon5	c.G493T	p.V165L	TGRIHRFVEKPQVFVSNKINAGMYI	TGRIHRFVEKPQLFVSNKINAGMYI	8.0	8.0	-	-	4264_3:49760097-49760097 C>A_TGRIHRFVEKPQLFVSNKINAGMYI
6:161514868-161514868 A>G	1.0	4264	ESOPHAGEAL	-	-	-	-	MAP3K4	uc003qto.3,p.T1138A|uc003qtn.3,p.T1138A|ENST00000366919,p.T1138A|NM_006724,p.T1138A|ENST00000392142,p.T1138A|NM_001291958,p.T591A|NM_005922,p.T1138A|uc011ega.2,p.T591A|ENST00000544041,p.T1138A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ega.2	nonsynonymous SNV	exon16	c.A1771G	p.T591A	IGHVIGKPHSPVTGLYLAIHRNSPR	IGHVIGKPHSPVAGLYLAIHRNSPR	8.0	7.0	-	-	4264_6:161514868-161514868 A>G_IGHVIGKPHSPVAGLYLAIHRNSPR
3:93643105-93643105 A>T	0.0	4264	ESOPHAGEAL	-	-	-	-	PROS1	NM_000313,p.Y80N|uc003drb.4,p.Y80N|ENST00000348974,p.Y112N|ENST00000394236,p.Y80N	retained_intron, protein_coding	uc003drb.4	nonsynonymous SNV	exon3	c.T238A	p.Y80N	AREVFENDPETDYFYPKYLVCLRSF	AREVFENDPETDNFYPKYLVCLRSF	8.0	1.0	unscreened	-	4264_3:93643105-93643105 A>T_AREVFENDPETDNFYPKYLVCLRSF
2:132021954-132021954 G>A	0.0	4264	ESOPHAGEAL	-	-	-	-	POTEE	uc010fmy.1,p.E440K|uc002tsn.2,p.E976K|uc002tsk.2,p.E576K|ENST00000356920,p.E976K|NM_001083538,p.E976K|uc002tsl.2,p.E558K	protein_coding	uc010fmy.1	nonsynonymous SNV	exon4	c.G1318A	p.E440K	PCFLGMESCGIHETTFNSIMKSDVD	PCFLGMESCGIHKTTFNSIMKSDVD	6.0	1.0	-	-	4264_2:132021954-132021954 G>A_PCFLGMESCGIHKTTFNSIMKSDVD
7:157959937-157959937 G>A	0.0	4264	ESOPHAGEAL	0.0005	-	-	-	PTPRN2	ENST00000389416,p.T182M|uc003wnp.3,p.T182M|uc003wno.3,p.T199M|ENST00000409483,p.T161M|uc011kwa.2,p.T222M|uc003wnq.3,p.T199M|uc003wnr.3,p.T161M|ENST00000389413,p.T199M|ENST00000404321,p.T222M|NM_130843,p.T199M|ENST00000389418,p.T199M|NM_130842,p.T182M|NM_002847,p.T199M	protein_coding	uc011kwa.2	nonsynonymous SNV	exon6	c.C665T	p.T222M	RFSESILTYVAHTSALTYPPGSRTQ	RFSESILTYVAHMSALTYPPGSRTQ	6.0	5.0	-	-	4264_7:157959937-157959937 G>A_RFSESILTYVAHMSALTYPPGSRTQ
18:672867-672867 G>A	1.0	4264	ESOPHAGEAL	-	-	ID=COSM1240594;OCCURENCE=1(oesophagus)	-	TYMS	uc010dkb.1,p.R237Q|ENST00000323274,p.R271Q|NM_001071,p.R271Q|uc010dkc.1,p.R188Q|ENST00000323224,p.R237Q|ENST00000323250,p.R188Q|uc010dka.1,p.R271Q	retained_intron, protein_coding, processed_transcript	uc010dkc.1	nonsynonymous SNV	exon5	c.G563A	p.R188Q	LNHIEPLKIQLQREPRPFPKLRILR	LNHIEPLKIQLQQEPRPFPKLRILR	9.0	3.0	-	-	4264_18:672867-672867 G>A_LNHIEPLKIQLQQEPRPFPKLRILR
17:58967104-58967104 G>A	0.0	4264	ESOPHAGEAL	-	-	-	-	BCAS3	NM_017679,p.S237N|uc002iyu.4,p.S237N|uc002iyw.4,p.S233N|ENST00000588462,p.S237N|uc002iyx.1,p.S52N|uc002iyv.4,p.S237N|ENST00000407086,p.S237N|ENST00000589222,p.S237N|NM_001099432,p.S237N|ENST00000408905,p.S237N|ENST00000390652,p.S237N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002iyx.1	nonsynonymous SNV	exon2	c.G155A	p.S52N	CPGPNMNPIALGSRWLAYAENKLIR	CPGPNMNPIALGNRWLAYAENKLIR	9.0	10.0	-	-	4264_17:58967104-58967104 G>A_CPGPNMNPIALGNRWLAYAENKLIR
7:48375020-48375020 C>A	1.0	4264	ESOPHAGEAL	-	-	-	-	ABCA13	uc003toq.2,p.A3334D|uc031sxh.1,p.A1015D|uc031sxg.1,p.A1015D|NM_152701,p.A3334D|uc003tos.1,p.A160D|ENST00000435803,p.A3334D|uc010kys.2,p.A1015D	retained_intron, protein_coding, nonsense_mediated_decay	uc031sxh.1	nonsynonymous SNV	exon11	c.C3044A	p.A1015D	PNTPEINKVIQKANYTFYIVDKLKT	PNTPEINKVIQKDNYTFYIVDKLKT	8.0	4.0	-	-	4264_7:48375020-48375020 C>A_PNTPEINKVIQKDNYTFYIVDKLKT
1:237863746-237863746 C>G	0.0	4264	ESOPHAGEAL	-	-	-	-	RYR2	uc010pxz.1,p.Q71E|ENST00000360064,p.Q3114E|uc001hyl.1,p.Q3116E|NM_001035,p.Q3116E|ENST00000366574,p.Q3116E|ENST00000542537,p.Q3100E	protein_coding, processed_transcript	uc010pxz.1	nonsynonymous SNV	exon4	c.C211G	p.Q71E	MLSSLFEHIGQHQFGEDLILEDVQV	MLSSLFEHIGQHEFGEDLILEDVQV	5.0	3.0	-	-	4264_1:237863746-237863746 C>G_MLSSLFEHIGQHEFGEDLILEDVQV
12:21453400-21453400 ->A	1.0	4264	ESOPHAGEAL	-	-	-	-	SLCO1A2	ENST00000458504,p.F132fs|NM_134431,p.F264fs|ENST00000307378,p.F264fs|uc010sio.2,p.F132fs|uc001ret.3,p.F262fs|uc001rer.3,p.F264fs|ENST00000390670,p.F262fs|uc010sip.2,p.F132fs|ENST00000537524,p.F132fs|ENST00000452078,p.F264fs|uc001reu.2,p.F244fs|NM_021094,p.F264fs|uc001res.3,p.F264fs|uc010siq.2,p.F132fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010siq.2	frameshift insertion	exon7	c.395dupT	p.F132fs	CAGVNVLTAIPFFFLPNTLPKEGLE	CAGVNVLTAIPFFLFAQHTSKGRTRD	5.0	7.0	-	-	4264_12:21453400-21453400 ->A_CAGVNVLTAIPFFLFAQHTSKGRTRD
12:101739333-101739333 G>C	1.0	4264	ESOPHAGEAL	-	-	-	-	UTP20	NM_014503,p.S1536T|ENST00000261637,p.S1536T|uc001tia.1,p.S1536T	retained_intron, protein_coding	uc001tia.1	nonsynonymous SNV	exon37	c.G4607C	p.S1536T	EKLRKGLKSQTESIQQDYTTILSCL	EKLRKGLKSQTETIQQDYTTILSCL	6.0	4.0	-	-	4264_12:101739333-101739333 G>C_EKLRKGLKSQTETIQQDYTTILSCL
11:64953448-64953448 G>A	1.0	4264	ESOPHAGEAL	0.0009	-	-	-	CAPN1	uc001odf.2,p.G173R|NM_005186,p.G173R|ENST00000279247,p.G173R|ENST00000526954,p.G173R|uc001odg.2,p.G173R|ENST00000533820,p.G173R|NM_001198868,p.G173R|ENST00000527323,p.G173R|ENST00000529133,p.G173R|ENST00000524773,p.G173R|NM_001198869,p.G173R|ENST00000533129,p.G173R|uc009yqd.2,p.G173R|ENST00000526468,p.G68R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yqd.2	nonsynonymous SNV	exon5	c.G517A	p.G173R	DVVVDDLLPIKDGKLVFVHSAEGNE	DVVVDDLLPIKDRKLVFVHSAEGNE	10.0	5.0	-	-	4264_11:64953448-64953448 G>A_DVVVDDLLPIKDRKLVFVHSAEGNE
7:102047913-102047913 A>C	1.0	4264	ESOPHAGEAL	-	-	-	-	PRKRIP1	NM_024653,p.K142T|ENST00000496391,p.K142T|uc003uzh.2,p.K142T|uc031syq.1,p.K46T|uc011kkq.1,p.K85T|ENST00000397912,p.K142T|ENST00000462601,p.K85T	retained_intron, protein_coding, processed_transcript	uc031syq.1	nonsynonymous SNV	exon2	c.A137C	p.K46T	KRQKLKEKKLLAKKMKLEQKKQEGP	KRQKLKEKKLLATKMKLEQKKQEGP	9.0	2.0	-	-	4264_7:102047913-102047913 A>C_KRQKLKEKKLLATKMKLEQKKQEGP
15:75650862-75650862 G>A	1.0	4264	ESOPHAGEAL	0.0005	-	-	-	MAN2C1	ENST00000563622,p.R683W|NM_006715,p.R782W|ENST00000569482,p.R782W|uc002bag.4,p.R782W|uc002baf.4,p.R782W|NM_001256495,p.R782W|uc002bah.4,p.R799W|ENST00000267978,p.R782W|uc010bkk.4,p.R683W|ENST00000565683,p.R799W|NM_001256494,p.R799W|NM_001256496,p.R683W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bkk.4	nonsynonymous SNV	exon18	c.C2047T	p.R683W	SAWFLLQISPNSRLSQEVVLDVGCP	SAWFLLQISPNSWLSQEVVLDVGCP	10.0	10.0	-	-	4264_15:75650862-75650862 G>A_SAWFLLQISPNSWLSQEVVLDVGCP
5:64867698-64867698 G>C	1.0	4264	ESOPHAGEAL	-	-	-	-	PPWD1	NM_001278929,p.C29S|uc003jtv.5,p.C185S|NM_001278927,p.C45S|NM_001278926,p.C155S|ENST00000505380,p.C104S|ENST00000502703,p.C89S|NM_015342,p.C185S|ENST00000535264,p.C155S|ENST00000261308,p.C185S|ENST00000538977,p.C29S|uc011cqw.3,p.C29S|uc011cqv.3,p.C155S	retained_intron, protein_coding, nonsense_mediated_decay	uc011cqw.3	nonsynonymous SNV	exon4	c.G86C	p.C29S	LGYFPGQCEWIYCPGDAISSVAASE	LGYFPGQCEWIYSPGDAISSVAASE	8.0	7.0	-	-	4264_5:64867698-64867698 G>C_LGYFPGQCEWIYSPGDAISSVAASE
19:7796645-7796645 C>T	0.0	4264	ESOPHAGEAL	-	-	-	-	CLEC4G	uc021uny.1,p.R11H|NM_001244856,p.R11H	protein_coding, processed_transcript	uc021uny.1	nonsynonymous SNV	exon2	c.G32A	p.R11H	MDTTRYRPWGRWVHWSRRPLFLA	MDTTRYRPWGHWVHWSRRPLFLA	5.0	5.0	-	-	4264_19:7796645-7796645 C>T_MDTTRYRPWGHWVHWSRRPLFLA
X:65417531-65417531 C>G	0.0	4264	ESOPHAGEAL	-	-	-	-	HEPH	NM_138737,p.S557C|uc011moz.2,p.S557C|ENST00000441993,p.S506C|ENST00000374727,p.S506C|uc004dwn.3,p.S506C|ENST00000343002,p.S503C|NM_014799,p.S236C|ENST00000336279,p.S236C|uc004dwo.3,p.S236C|ENST00000519389,p.S557C|NM_001130860,p.S506C|uc011mpa.2,p.S506C	retained_intron, protein_coding, nonsense_mediated_decay	uc011mpa.2	nonsynonymous SNV	exon9	c.C1517G	p.S506C	KDYEGTVYNDGSSYPGLVAKPFEKV	KDYEGTVYNDGSCYPGLVAKPFEKV	7.0	10.0	-	-	4264_X:65417531-65417531 C>G_KDYEGTVYNDGSCYPGLVAKPFEKV
19:7796645-7796645 C>T	0.0	4264	ESOPHAGEAL	-	-	-	-	CLEC4G	ENST00000599020,p.R65H|ENST00000328853,p.R23H|NM_198492,p.R23H|uc002mhp.4,p.R23H	protein_coding, processed_transcript	uc002mhp.4	nonsynonymous SNV	exon2	c.G68A	p.R23H	GSSEEVPGGPWGRWVHWSRRPLFLA	GSSEEVPGGPWGHWVHWSRRPLFLA	5.0	5.0	-	-	4264_19:7796645-7796645 C>T_GSSEEVPGGPWGHWVHWSRRPLFLA
5:145464072-145464072 C>T	1.0	4264	ESOPHAGEAL	-	-	-	-	PLAC8L1	NM_001029869,p.A153T|uc003lnv.3,p.A153T|ENST00000311450,p.A153T	protein_coding, nonsense_mediated_decay	uc003lnv.3	nonsynonymous SNV	exon4	c.G457A	p.A153T	VHCCWAFSICQVARELKMRTSQVYE	VHCCWAFSICQVTRELKMRTSQVYE	4.0	9.0	-	-	4264_5:145464072-145464072 C>T_VHCCWAFSICQVTRELKMRTSQVYE
3:73024167-73024167 C>T	1.0	4264	ESOPHAGEAL	-	-	-	-	GXYLT2	ENST00000389617,p.P397S|uc003dpg.3,p.P397S|NM_001080393,p.P397S	protein_coding	uc003dpg.3	nonsynonymous SNV	exon7	c.C1189T	p.P397S	PFQDNLFQSMYYPLQLKFLETVHTL	PFQDNLFQSMYYSLQLKFLETVHTL	7.0	3.0	-	-	4264_3:73024167-73024167 C>T_PFQDNLFQSMYYSLQLKFLETVHTL
3:137822709-137822709 C>G	1.0	4264	ESOPHAGEAL	-	-	-	-	DZIP1L	ENST00000469243,p.W35C|uc003erq.3,p.W35C|NM_173543,p.W35C|ENST00000467030,p.W35C|NM_001170538,p.W35C|uc003err.1,p.W35C|ENST00000327532,p.W35C	retained_intron, protein_coding, processed_transcript	uc003err.1	nonsynonymous SNV	exon3	c.G105C	p.W35C	TFKFQPRHDSMDWRRISTLDVDRVA	TFKFQPRHDSMDCRRISTLDVDRVA	9.0	2.0	-	-	4264_3:137822709-137822709 C>G_TFKFQPRHDSMDCRRISTLDVDRVA
6:32549580-32549580 G>-	0.0	4264	ESOPHAGEAL	-	-	ID=COSM1443628;OCCURENCE=2(large_intestine)	-	HLA-DRB1	ENST00000360004,p.Q136fs|NM_002124,p.Q136fs|uc003obp.4,p.Q136fs	protein_coding	uc003obp.4	frameshift deletion	exon3	c.406delC	p.Q136fs	VQPKVTVYPSKTQPLQHHNLLVCSV	VQPKVTVYPSKTSPCSTTTSWSAL	10.0	1.0	unscreened	-	4264_6:32549580-32549580 G>-_VQPKVTVYPSKTSPCSTTTSWSAL
3:31725507-31725507 C>G	1.0	4264	ESOPHAGEAL	-	-	-	-	OSBPL10	ENST00000396556,p.A449P|NM_017784,p.A449P|uc003ceu.1,p.A206P|ENST00000438237,p.A385P|uc021wuu.1,p.A449P|NM_001174060,p.A385P|uc011axf.2,p.A385P	retained_intron, protein_coding, processed_transcript	uc021wuu.1	nonsynonymous SNV	exon8	c.G1345C	p.A449P	AHPDLLLAITAGATPEERVICFVEY	AHPDLLLAITAGPTPEERVICFVEY	6.0	10.0	-	-	4264_3:31725507-31725507 C>G_AHPDLLLAITAGPTPEERVICFVEY
10:85992155-85992155 C>T	0.0	4264	ESOPHAGEAL	-	-	-	-	LRIT1	NM_015613,p.G467E|ENST00000372105,p.G467E|uc001kcz.1,p.G467E	protein_coding	uc001kcz.1	nonsynonymous SNV	exon4	c.G1400A	p.G467E	NTTAFSVLYAVFGQHSMRRVIVQPG	NTTAFSVLYAVFEQHSMRRVIVQPG	1.0	8.0	-	-	4264_10:85992155-85992155 C>T_NTTAFSVLYAVFEQHSMRRVIVQPG
1:12091779-12091779 G>T	1.0	4264	ESOPHAGEAL	-	-	-	-	MIIP	uc001ato.2,p.A361S|ENST00000235332,p.A361S|NM_021933,p.A361S	protein_coding, processed_transcript	uc001ato.2	nonsynonymous SNV	exon10	c.G1081T	p.A361S	QKLSGTSSPFHPASPMQMLPPTPTW	QKLSGTSSPFHPSSPMQMLPPTPTW	9.0	8.0	-	-	4264_1:12091779-12091779 G>T_QKLSGTSSPFHPSSPMQMLPPTPTW
19:36884206-36884206 C>T	0.0	4264	ESOPHAGEAL	-	-	-	-	ZFP82	ENST00000392171,p.A346T|uc002ody.1,p.A346T|ENST00000392161,p.A346T|NM_133466,p.A346T	retained_intron, protein_coding	uc002ody.1	nonsynonymous SNV	exon5	c.G1036A	p.A346T	GEKPYECKECGKAFRVRQQLTLHQR	GEKPYECKECGKTFRVRQQLTLHQR	5.0	10.0	unscreened	-	4264_19:36884206-36884206 C>T_GEKPYECKECGKTFRVRQQLTLHQR
3:155200339-155200343 TGTAG>-	0.0	4264	ESOPHAGEAL	-	-	-	-	PLCH1	uc021xgf.1,p.L1128fs|NM_014996,p.L1128fs|uc021xge.1,p.L1166fs|ENST00000340059,p.L1166fs|ENST00000414191,p.L1128fs|ENST00000460012,p.L1128fs|ENST00000334686,p.L1128fs|NM_001130960,p.L1166fs	retained_intron, protein_coding	uc021xgf.1	frameshift deletion	exon22	c.3382_3386del	p.L1128fs	SDVSMLCSDIPDLHSTAILQESVIS	SDVSMLCSDIPDFNCNSAGECNFPSY	5.0	2.0	-	-	4264_3:155200339-155200343 TGTAG>-_SDVSMLCSDIPDFNCNSAGECNFPSY
X:32509569-32509569 C>G	0.0	4264	ESOPHAGEAL	-	-	-	-	DMD	NM_004009,p.C812S|NM_004010,p.C693S|uc004dcy.1,p.C812S|ENST00000378677,p.C812S|ENST00000357033,p.C816S|uc004dda.1,p.C816S|NM_004006,p.C816S|uc004ddb.1,p.C808S|NM_000109,p.C808S|uc004dcz.2,p.C693S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddb.1	nonsynonymous SNV	exon20	c.G2423C	p.C808S	ASEQLNSRWIEFCQLLSERLNWLEY	ASEQLNSRWIEFSQLLSERLNWLEY	5.0	10.0	-	-	4264_X:32509569-32509569 C>G_ASEQLNSRWIEFSQLLSERLNWLEY
4:126408566-126408566 C>T	0.0	4264	ESOPHAGEAL	-	-	-	1	FAT4	uc003ifj.4,p.P4295S|NM_001291285,p.P4297S|uc011cgp.2,p.P2536S|uc003ifi.1,p.P1773S|ENST00000335110,p.P2536S|NM_001291303,p.P4297S|ENST00000394329,p.P4295S|NM_024582,p.P4295S	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon14	c.C7606T	p.P2536S	DAGIAGKVERNIPEVYVADGHWHTF	DAGIAGKVERNISEVYVADGHWHTF	4.0	7.0	-	-	4264_4:126408566-126408566 C>T_DAGIAGKVERNISEVYVADGHWHTF
1:233313564-233313564 T>G	0.0	4264	ESOPHAGEAL	-	-	-	-	PCNXL2	ENST00000258229,p.K1086T|uc001hvl.2,p.K1086T|NM_014801,p.K1086T|ENST00000488780,p.K219T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hvl.2	nonsynonymous SNV	exon17	c.A3257C	p.K1086T	NLAESAADPLPKKMKDSVTDVLKWD	NLAESAADPLPKTMKDSVTDVLKWD	8.0	5.0	-	-	4264_1:233313564-233313564 T>G_NLAESAADPLPKTMKDSVTDVLKWD
1:160168790-160168790 A>G	0.0	4264	ESOPHAGEAL	-	-	-	-	CASQ1	NM_001231,p.T311A|uc010pja.2,p.T311A|ENST00000467691,p.T32A|ENST00000368078,p.T311A|ENST00000368079,p.T305A	retained_intron, protein_coding	uc010pja.2	nonsynonymous SNV	exon9	c.A931G	p.T311A	FLETLKAVAQDNTENPDLSIIWIDP	FLETLKAVAQDNAENPDLSIIWIDP	4.0	9.0	-	-	4264_1:160168790-160168790 A>G_FLETLKAVAQDNAENPDLSIIWIDP
11:1578275-1578275 G>T	0.0	4264	ESOPHAGEAL	-	-	-	-	DUSP8	ENST00000397374,p.P451T|ENST00000331588,p.P451T|uc001lts.2,p.P451T|NM_004420,p.P451T	protein_coding, processed_transcript	uc001lts.2	nonsynonymous SNV	exon7	c.C1351A	p.P451T	SPDSPDAAPEARPRPRRRPRPPAGS	SPDSPDAAPEARTRPRRRPRPPAGS	5.0	8.0	-	-	4264_11:1578275-1578275 G>T_SPDSPDAAPEARTRPRRRPRPPAGS
8:139163695-139163695 G>A	0.0	4264	ESOPHAGEAL	-	-	ID=COSM1721903,COSM1721904;OCCURENCE=2(NS)	2	FAM135B	uc003yvb.3,p.S570F|ENST00000276737,p.S1008F|uc003yux.3,p.S909F|ENST00000467365,p.S318F|NM_015912,p.S1008F|ENST00000395297,p.S1008F|uc003yuy.3,p.S1008F|uc003yva.3,p.S570F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yvb.3	nonsynonymous SNV	exon1	c.C1709T	p.S570F	QVLKNQELKAGTSIMGSHLTSAETF	QVLKNQELKAGTFIMGSHLTSAETF	2.0	1.0	-	-	4264_8:139163695-139163695 G>A_QVLKNQELKAGTFIMGSHLTSAETF
19:8389412-8389412 G>C	0.0	4264	ESOPHAGEAL	-	-	-	-	KANK3	uc010dwa.3,p.A768G|ENST00000330915,p.A768G|ENST00000593649,p.A768G|NM_198471,p.A768G	retained_intron, protein_coding	uc010dwa.3	nonsynonymous SNV	exon10	c.C2303G	p.A768G	PAILDNEGTSALAIALEAEQDEVAA	PAILDNEGTSALGIALEAEQDEVAA	6.0	6.0	-	-	4264_19:8389412-8389412 G>C_PAILDNEGTSALGIALEAEQDEVAA
15:22382608-22382608 ->T	0.0	4264	ESOPHAGEAL	-	-	ID=COSM1372011;OCCURENCE=1(large_intestine)	-	OR4N4	uc010tzv.2,p.I46fs|NM_001005241,p.I46fs|uc001yuc.1,p.I46fs|ENST00000328795,p.I46fs	protein_coding	uc010tzv.2	frameshift insertion	exon1	c.137dupT	p.I46fs	FYLIILPGNFLIIFTIRSDPGLTAP	FYLIILPGNFLIIFHHKVRPWAHSPPLFISGQLGLPGCILLLHCGSQDVGGLPL	1.0	1.0	-	-	4264_15:22382608-22382608 ->T_FYLIILPGNFLIIFHHKVRPWAHSPPLFISGQLGLPGCILLLHCGSQDVGGLPL
2:179412815-179412815 T>C	0.0	4264	ESOPHAGEAL	-	-	-	-	TTN	NM_001267550,p.T31180A|uc021vsz.2,p.T22307A|ENST00000589042,p.T31180A|uc021vsy.2,p.T28612A|NM_133437,p.T22307A|NM_133432,p.T22240A|ENST00000342992,p.T28612A|NM_003319,p.T22115A|ENST00000460472,p.T22115A|uc031rqc.1,p.T31180A|ENST00000591111,p.T29539A|NM_001256850,p.T29539A|ENST00000359218,p.T22240A|ENST00000342175,p.T22307A|uc021vta.2,p.T22240A|uc021vtb.2,p.T22115A|uc031rqd.1,p.T29539A|NM_133378,p.T28612A	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon289	c.A88615G	p.T29539A	QLTFTVERLVEKTEYEFRVKAKNDA	QLTFTVERLVEKAEYEFRVKAKNDA	5.0	10.0	-	-	4264_2:179412815-179412815 T>C_QLTFTVERLVEKAEYEFRVKAKNDA
14:65520052-65520055 TGGA>-	0.0	4264	ESOPHAGEAL	-	-	-	-	CHURC1-FNTB,FNTB	uc010tso.2,p.L266fs|ENST00000542227,p.L305fs|ENST00000549987,p.L386fs|uc010tsm.2,p.L305fs|NM_002028,p.L351fs|ENST00000246166,p.L351fs|uc001xid.3,p.L107fs|NM_001202558,p.L305fs|ENST00000447296,p.L385fs|uc001xia.3,p.L351fs|NM_001202559,p.L412fs|uc010tsl.2,p.L412fs	protein_coding, nonsense_mediated_decay	uc010tso.2	frameshift deletion	exon7	c.797_800del	p.L266fs	ILMCCQCPAGGLLDKPGKSRDFYHT	ILMCCQCPAGGLLNLASRVISTTPATA	9.0	1.0	-	-	4264_14:65520052-65520055 TGGA>-_ILMCCQCPAGGLLNLASRVISTTPATA
9:101798641-101798641 C>T	0.0	4264	ESOPHAGEAL	-	-	-	-	COL15A1	NM_001855,p.P791L|ENST00000375001,p.P791L|uc004azb.2,p.P791L	retained_intron, protein_coding, processed_transcript	uc004azb.2	nonsynonymous SNV	exon21	c.C2372T	p.P791L	GMDGASIVGPPGPRGPPGHIKVLSN	GMDGASIVGPPGLRGPPGHIKVLSN	7.0	1.0	unscreened	-	4264_9:101798641-101798641 C>T_GMDGASIVGPPGLRGPPGHIKVLSN
5:140431180-140431180 G>A	0.0	4264	ESOPHAGEAL	-	-	-	-	PCDHB1	NM_013340,p.G42D|uc003lik.1,p.G42D|ENST00000306549,p.G42D	protein_coding	uc003lik.1	nonsynonymous SNV	exon1	c.G125A	p.G42D	TIRYSVAEEMESGSFVANVAKDLGL	TIRYSVAEEMESDSFVANVAKDLGL	1.0	9.0	-	-	4264_5:140431180-140431180 G>A_TIRYSVAEEMESDSFVANVAKDLGL
10:129867993-129867993 G>A	1.0	4264	ESOPHAGEAL	-	-	-	-	PTPRE	uc009yat.3,p.D360N|ENST00000306042,p.D291N|uc009yau.2,p.D349N|ENST00000479896,p.D291N|NM_006504,p.D349N|NM_130435,p.D291N|uc001lkb.3,p.D349N|ENST00000419012,p.D349N|uc010quq.1,p.D250N|uc001lkd.3,p.D291N|ENST00000254667,p.D349N	protein_coding, processed_transcript	uc010quq.1	nonsynonymous SNV	exon8	c.G748A	p.D250N	AGVGRTGTFIVIDAMMAMMHAEQKV	AGVGRTGTFIVINAMMAMMHAEQKV	7.0	7.0	-	-	4264_10:129867993-129867993 G>A_AGVGRTGTFIVINAMMAMMHAEQKV
1:146453155-146453155 T>C	0.0	4264	ESOPHAGEAL	-	-	-	-	NBPF10	ENST00000442909,p.L2600P|ENST00000438411,p.L26P	protein_coding	ENST00000442909	nonsynonymous SNV	exon66	c.T7799C	p.L2600P	QDPSCPRLSRELLAEKEPEVLQDSL	QDPSCPRLSRELPAEKEPEVLQDSL	7.0	1.0	unscreened	-	4264_1:146453155-146453155 T>C_QDPSCPRLSRELPAEKEPEVLQDSL
5:122506648-122506648 G>C	0.0	4264	ESOPHAGEAL	-	-	-	-	PRDM6	ENST00000407847,p.V448L|NM_001136239,p.V448L|uc003kti.3,p.V448L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kti.3	nonsynonymous SNV	exon6	c.G1342C	p.V448L	SGPIESGFNQINVKNQRVLASPTST	SGPIESGFNQINLKNQRVLASPTST	6.0	6.0	-	-	4264_5:122506648-122506648 G>C_SGPIESGFNQINLKNQRVLASPTST
1:12251127-12251127 T>C	0.0	4264	ESOPHAGEAL	-	-	-	-	TNFRSF1B	ENST00000536782,p.S98P|uc001att.3,p.S98P|ENST00000376259,p.S98P|NM_001066,p.S98P	protein_coding, processed_transcript	uc001att.3	nonsynonymous SNV	exon3	c.T292C	p.S98P	LWNWVPECLSCGSRCSSDQVETQAC	LWNWVPECLSCGPRCSSDQVETQAC	8.0	6.0	unscreened	-	4264_1:12251127-12251127 T>C_LWNWVPECLSCGPRCSSDQVETQAC
3:180334375-180334375 C>T	1.0	4264	ESOPHAGEAL	-	-	-	-	CCDC39	uc010hxe.3,p.D839N|NM_181426,p.D839N|ENST00000442201,p.D839N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hxe.3	nonsynonymous SNV	exon18	c.G2515A	p.D839N	KLREMKQFHKVIDEMLVDIIEENTE	KLREMKQFHKVINEMLVDIIEENTE	4.0	2.0	-	-	4264_3:180334375-180334375 C>T_KLREMKQFHKVINEMLVDIIEENTE
16:20975773-20975773 C>T	0.0	4264	ESOPHAGEAL	-	-	-	-	DNAH3	NM_017539,p.A3145T|uc010vbe.2,p.A3145T|uc010vbd.2,p.A580T|ENST00000261383,p.A3145T	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon53	c.G9433A	p.A3145T	ELDASIEPILLKATFKQQGVEYMRL	ELDASIEPILLKTTFKQQGVEYMRL	3.0	10.0	-	-	4264_16:20975773-20975773 C>T_ELDASIEPILLKTTFKQQGVEYMRL
18:63489346-63489346 G>A	0.0	4264	ESOPHAGEAL	-	-	ID=COSM989580,COSM989581;OCCURENCE=1(endometrium)	-	CDH7	ENST00000397968,p.D219N|ENST00000323011,p.D219N|NM_004361,p.D219N|uc002ljz.3,p.D219N|NM_033646,p.D219N|uc002lka.3,p.D219N|ENST00000536984,p.D219N|uc002lkb.3,p.D219N	protein_coding, processed_transcript	uc002lkb.3	nonsynonymous SNV	exon5	c.G655A	p.D219N	KTGVIKTALPNMDREAKDQYLLVIQ	KTGVIKTALPNMNREAKDQYLLVIQ	2.0	1.0	-	-	4264_18:63489346-63489346 G>A_KTGVIKTALPNMNREAKDQYLLVIQ
2:48026161-48026161 G>A	1.0	4264	ESOPHAGEAL	-	-	-	1	MSH6	ENST00000540021,p.E217K|NM_001281492,p.E217K|NM_001281494,p.E45K|uc010fbj.3,p.E45K|uc002rwd.4,p.E347K|NM_001281493,p.E45K|NM_000179,p.E347K|ENST00000538136,p.E45K|uc010yoj.2,p.E45K|uc002rwc.2,p.E347K|ENST00000234420,p.E347K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010yoj.2	nonsynonymous SNV	exon4	c.G133A	p.E45K	NTLRAFSAPQNSESQAHVSGGGDDS	NTLRAFSAPQNSKSQAHVSGGGDDS	9.0	5.0	-	-	4264_2:48026161-48026161 G>A_NTLRAFSAPQNSKSQAHVSGGGDDS
2:130832119-130832119 C>T	0.0	4264	ESOPHAGEAL	-	-	-	-	POTEF	ENST00000357462,p.E976K|NM_001099771,p.E976K|uc010fmh.2,p.E976K|ENST00000409914,p.E976K	protein_coding	uc010fmh.2	nonsynonymous SNV	exon17	c.G2926A	p.E976K	PCFLGMESCGIHETTFNSIMKSDVD	PCFLGMESCGIHKTTFNSIMKSDVD	4.0	2.0	unscreened	-	4264_2:130832119-130832119 C>T_PCFLGMESCGIHKTTFNSIMKSDVD
19:34949824-34949824 G>A	1.0	4264	ESOPHAGEAL	-	-	-	-	UBA2	uc002nvl.3,p.D370N|NM_005499,p.D466N|uc002nvk.3,p.D466N|uc010xrx.1,p.D339N|ENST00000439527,p.D370N|ENST00000246548,p.D466N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xrx.1	nonsynonymous SNV	exon10	c.G1015A	p.D339N	LNVHKVTVLTLQDKIVKEKFAMVAP	LNVHKVTVLTLQNKIVKEKFAMVAP	10.0	4.0	-	-	4264_19:34949824-34949824 G>A_LNVHKVTVLTLQNKIVKEKFAMVAP
3:119338454-119338454 G>A	0.0	4264	ESOPHAGEAL	-	-	-	-	PLA1A	uc011bjc.2,p.E150K|NM_015900,p.E323K|uc003ecv.3,p.E307K|NM_001206961,p.E150K|NM_001206960,p.E307K|NM_001293225,p.E307K|uc003ecu.3,p.E323K|ENST00000495992,p.E307K|ENST00000494440,p.E307K|ENST00000488919,p.E150K|ENST00000273371,p.E323K|ENST00000475963,p.E189K	retained_intron, protein_coding	uc011bjc.2	nonsynonymous SNV	exon7	c.G448A	p.E150K	EQGGVKIEPLPKEVKVYLLTTSSAP	EQGGVKIEPLPKKVKVYLLTTSSAP	7.0	1.0	-	-	4264_3:119338454-119338454 G>A_EQGGVKIEPLPKKVKVYLLTTSSAP
6:43268947-43268947 G>C	0.0	4264	ESOPHAGEAL	-	-	-	-	SLC22A7	NM_153320,p.C301S|ENST00000372585,p.C301S|ENST00000372574,p.C299S|NM_006672,p.C299S|uc010jyl.1,p.C302S|uc003ous.3,p.C299S|ENST00000372589,p.C299S|uc021yzt.1,p.C301S	protein_coding, processed_transcript, nonsense_mediated_decay	uc021yzt.1	nonsynonymous SNV	exon6	c.G902C	p.C301S	GHVKEAHRYLLHCARLNGRPVCEDS	GHVKEAHRYLLHSARLNGRPVCEDS	1.0	3.0	-	-	4264_6:43268947-43268947 G>C_GHVKEAHRYLLHSARLNGRPVCEDS
9:134361521-134361526 GCCCCG>-	1.0	4264	ESOPHAGEAL	-	-	-	-	PRRC2B	ENST00000458550,p.1242_1244del|uc004cap.4,p.81_83del|uc004cao.4,p.1293_1295del|ENST00000357304,p.1936_1938del|NM_013318,p.1936_1938del|ENST00000405995,p.1242_1244del|ENST00000372249,p.33_35del|uc004can.4,p.1936_1938del	protein_coding, processed_transcript	uc004cap.4	nonframeshift deletion	exon2	c.243_248del	p.81_83del	PPLYLDGHVFASQPRLVPQTIPQQQ	PPLYLDGHVFASQLVPQTIPQQQSY	10.0	3.0	-	-	4264_9:134361521-134361526 GCCCCG>-_PPLYLDGHVFASQLVPQTIPQQQSY
19:52659532-52659532 T>G	0.0	4264	ESOPHAGEAL	-	-	-	-	ZNF836	ENST00000322146,p.K468N|ENST00000597252,p.K468N|uc010ydj.2,p.K468N|NM_001102657,p.K468N|uc010ydi.2,p.K468N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ydj.2	nonsynonymous SNV	exon5	c.A1404C	p.K468N	QLARHQRSHTGEKPYKCNECGKVFS	QLARHQRSHTGENPYKCNECGKVFS	7.0	8.0	-	-	4264_19:52659532-52659532 T>G_QLARHQRSHTGENPYKCNECGKVFS
20:17640510-17640510 C>A	1.0	4264	ESOPHAGEAL	-	-	-	-	RRBP1	ENST00000246043,p.A215S|ENST00000377813,p.A215S|ENST00000398782,p.A215S|uc021waw.1,p.A215S|uc010zrr.1,p.A215S|uc010zrq.1,p.A215S	protein_coding, processed_transcript	uc021waw.1	nonsynonymous SNV	exon1	c.G643T	p.A215S	EGTQNQSKKAEGAPNQGRKAEGTPN	EGTQNQSKKAEGSPNQGRKAEGTPN	10.0	9.0	-	-	4264_20:17640510-17640510 C>A_EGTQNQSKKAEGSPNQGRKAEGTPN
X:123654543-123654543 A>C	0.0	4264	ESOPHAGEAL	-	-	-	-	TENM1	uc004euj.3,p.I1042S|uc011muj.2,p.I1041S|uc010nqy.3,p.I1042S|ENST00000371130,p.I1042S|NM_001163279,p.I1041S|NM_001163278,p.I1042S|ENST00000422452,p.I1042S|NM_014253,p.I1042S	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon18	c.T3122G	p.I1041S	SSRTPGYKTLLRILLTHSTIPVGMI	SSRTPGYKTLLRSLLTHSTIPVGMI	2.0	10.0	-	-	4264_X:123654543-123654543 A>C_SSRTPGYKTLLRSLLTHSTIPVGMI
6:129775387-129775387 G>C	0.0	4264	ESOPHAGEAL	-	-	-	-	LAMA2	NM_001079823,p.D2221H|uc021zfb.1,p.D2221H|ENST00000421865,p.D2221H|NM_000426,p.D2221H	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon47	c.G6661C	p.D2221H	DVGSGVGRVEYPDLTIDDSYWYRIV	DVGSGVGRVEYPHLTIDDSYWYRIV	1.0	7.0	-	-	4264_6:129775387-129775387 G>C_DVGSGVGRVEYPHLTIDDSYWYRIV
16:68225424-68225424 C>T	1.0	4264	ESOPHAGEAL	-	-	-	-	NFATC3	uc010vkn.2,p.P472L|uc002evm.2,p.P951L|uc010vkx.2,p.P472L|uc002evl.3,p.P472L|uc010vkl.2,p.P472L|uc010vkq.2,p.P472L|uc010vks.2,p.P472L|ENST00000349223,p.P951L|uc010vkr.2,p.P472L|uc002evk.3,p.P951L|uc010vkt.2,p.P472L|uc002evn.2,p.P951L|uc010vko.2,p.P472L|NM_173163,p.P951L|ENST00000575270,p.P951L|uc010vlb.2,p.P472L|uc002evo.2,p.P951L|ENST00000346183,p.P951L|uc010vkp.2,p.P472L|uc010vkv.2,p.P472L|uc010vkw.2,p.P472L|uc010vlc.2,p.P472L|NM_173165,p.P951L|uc010vky.2,p.P472L|uc010vla.2,p.P472L|uc010vkz.2,p.P472L|uc010vku.2,p.P472L|NM_004555,p.P951L|uc010vkm.2,p.P472L|ENST00000329524,p.P951L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vlc.2	nonsynonymous SNV	exon9	c.C1415T	p.P472L	LSGPPSPQLQPMPYQSPSSGTASSP	LSGPPSPQLQPMLYQSPSSGTASSP	8.0	2.0	-	-	4264_16:68225424-68225424 C>T_LSGPPSPQLQPMLYQSPSSGTASSP
10:100242405-100242405 C>A	0.0	4264	ESOPHAGEAL	-	-	-	-	HPSE2	ENST00000370546,p.G534V|uc009xwc.2,p.G534V|NM_001166246,p.G534V	protein_coding	uc009xwc.2	nonsynonymous SNV	exon11	c.G1601T	p.G534V	VHQYLLQPYGQEGLKSKTQRCQYCG	VHQYLLQPYGQEVLKSKTQRCQYCG	5.0	8.0	-	-	4264_10:100242405-100242405 C>A_VHQYLLQPYGQEVLKSKTQRCQYCG
11:128709103-128709103 C>T	0.0	4264	ESOPHAGEAL	-	-	-	-	KCNJ1	uc021qsb.1,p.V346I|ENST00000324036,p.V346I|NM_000220,p.V365I|ENST00000392666,p.V346I|ENST00000392664,p.V365I|uc001qer.2,p.V346I|NM_153764,p.V346I|uc001qep.2,p.V346I|NM_153766,p.V346I|ENST00000440599,p.V346I|NM_153765,p.V363I|uc001qeq.2,p.V363I|NM_153767,p.V346I|uc001qes.2,p.V346I|uc001qeo.2,p.V365I|ENST00000392665,p.V346I	retained_intron, protein_coding	uc021qsb.1	nonsynonymous SNV	exon1	c.G1036A	p.V346I	PHCAMCLYNEKDVRARMKRGYDNPN	PHCAMCLYNEKDIRARMKRGYDNPN	2.0	5.0	-	-	4264_11:128709103-128709103 C>T_PHCAMCLYNEKDIRARMKRGYDNPN
1:12251125-12251125 G>A	0.0	4264	ESOPHAGEAL	-	-	-	-	TNFRSF1B	ENST00000376259,p.G97D|NM_001066,p.G97D|ENST00000536782,p.G97D|uc001att.3,p.G97D	protein_coding, processed_transcript	uc001att.3	nonsynonymous SNV	exon3	c.G290A	p.G97D	QLWNWVPECLSCGSRCSSDQVETQA	QLWNWVPECLSCDSRCSSDQVETQA	8.0	6.0	unscreened	-	4264_1:12251125-12251125 G>A_QLWNWVPECLSCDSRCSSDQVETQA
2:149541214-149541214 G>A	0.0	4264	ESOPHAGEAL	-	-	-	-	EPC2	NM_015630,p.A636T|ENST00000258484,p.A636T|uc010zbt.2,p.A636T	retained_intron, protein_coding	uc010zbt.2	nonsynonymous SNV	exon12	c.G1906A	p.A636T	SDCMSKTLDSASAHFAASAVVSAPV	SDCMSKTLDSASTHFAASAVVSAPV	7.0	1.0	unscreened	-	4264_2:149541214-149541214 G>A_SDCMSKTLDSASTHFAASAVVSAPV
8:117783955-117783955 G>C	1.0	4264	ESOPHAGEAL	-	-	-	-	UTP23	NM_032334,p.L208F|uc003yoc.3,p.L208F|ENST00000309822,p.L208F	retained_intron, protein_coding, nonsense_mediated_decay	uc003yoc.3	nonsynonymous SNV	exon3	c.G624C	p.L208F	RKKISGPNPLSCLKKKKKAPDTQSS	RKKISGPNPLSCFKKKKKAPDTQSS	9.0	3.0	-	-	4264_8:117783955-117783955 G>C_RKKISGPNPLSCFKKKKKAPDTQSS
2:111881391-111881391 G>C	1.0	4264	ESOPHAGEAL	-	-	-	-	BCL2L11	uc002tgw.2,p.E23D|NM_138626,p.E23D|ENST00000308659,p.E23D|uc010fkd.2,p.E23D|NM_001204110,p.E23D|uc021vmq.1,p.E23D|uc002thb.2,p.E23D|NM_001204113,p.E23D|ENST00000439718,p.E23D|uc021vmp.1,p.E23D|uc002tha.2,p.E23D|uc002thc.2,p.E23D|NM_138627,p.E23D|uc002tgz.2,p.E23D|ENST00000438054,p.E21D|NM_138623,p.E23D|NM_207002,p.E23D|uc002tgy.2,p.E23D|NM_001204106,p.E23D|uc021vms.1,p.E23D|ENST00000431217,p.E23D|ENST00000361493,p.E23D|NM_001204111,p.E23D|uc021vmo.1,p.E23D|ENST00000436733,p.E23D|ENST00000433098,p.E23D|NM_001204107,p.E23D|NM_001204112,p.E23D|uc002thd.2,p.E23D|uc002tgu.1,p.E23D|NM_138622,p.E23D|ENST00000437029,p.E23D|NM_138624,p.E23D|ENST00000393252,p.E23D|NM_138621,p.E23D|ENST00000393253,p.E23D|ENST00000432179,p.E23D|ENST00000415458,p.E23D|NM_001204109,p.E23D|NM_138625,p.E23D|uc002tgx.2,p.E23D|NM_001204108,p.E23D|ENST00000452231,p.E23D|uc021vmr.1,p.E23D|ENST00000393256,p.E23D|ENST00000405953,p.E23D|ENST00000357757,p.E23D|ENST00000337565,p.E23D|NM_207003,p.E23D|NM_006538,p.E23D|uc002tgt.1,p.E23D|uc010fke.2,p.E23D|uc002tgv.1,p.E23D	protein_coding, nonsense_mediated_decay	uc021vms.1	nonsynonymous SNV	exon2	c.G69C	p.E23D	ECDREGRQLQPAERPPQLRPGAPTS	ECDREGRQLQPADRPPQLRPGAPTS	7.0	4.0	-	-	4264_2:111881391-111881391 G>C_ECDREGRQLQPADRPPQLRPGAPTS
1:238050853-238050853 G>T	0.0	4264	ESOPHAGEAL	-	-	-	-	ZP4	uc001hym.3,p.H188N|ENST00000366570,p.H188N|NM_021186,p.H188N	protein_coding	uc001hym.3	nonsynonymous SNV	exon5	c.C562A	p.H188N	VNSCYYGNTVTLHCTREGHFSIAVS	VNSCYYGNTVTLNCTREGHFSIAVS	1.0	3.0	-	-	4264_1:238050853-238050853 G>T_VNSCYYGNTVTLNCTREGHFSIAVS
1:75072447-75072447 T>C	0.0	4264	ESOPHAGEAL	-	-	-	-	ERICH3	ENST00000420661,p.N246D|NM_001002912,p.N443D|uc001dgi.4,p.N237D|ENST00000326665,p.N443D|uc001dgg.3,p.N443D	protein_coding, processed_transcript	uc001dgi.4	nonsynonymous SNV	exon5	c.A709G	p.N237D	VRKEREYVIPKRNEIKENKTSVSAK	VRKEREYVIPKRDEIKENKTSVSAK	1.0	10.0	-	-	4264_1:75072447-75072447 T>C_VRKEREYVIPKRDEIKENKTSVSAK
3:147123164-147123164 G>A	0.0	4264	ESOPHAGEAL	-	-	-	-	ZIC4	NM_001168379,p.S32F|uc021xff.1,p.S32F|ENST00000425731,p.S32F	retained_intron, protein_coding, processed_transcript	uc021xff.1	nonsynonymous SNV	exon1	c.C95T	p.S32F	SAVTVFRKLPLDSKAQSQKMRYKTS	SAVTVFRKLPLDFKAQSQKMRYKTS	1.0	10.0	-	-	4264_3:147123164-147123164 G>A_SAVTVFRKLPLDFKAQSQKMRYKTS
18:56205072-56205072 C>G	0.0	4264	ESOPHAGEAL	-	-	-	-	ALPK2	NM_052947,p.D783H|uc002lhk.1,p.D114H|ENST00000361673,p.D783H|uc002lhj.4,p.D783H	retained_intron, protein_coding, processed_transcript	uc002lhk.1	nonsynonymous SNV	exon1	c.G340C	p.D114H	PVAVSVASPEPTDTALTLENVCDEP	PVAVSVASPEPTHTALTLENVCDEP	4.0	9.0	-	-	4264_18:56205072-56205072 C>G_PVAVSVASPEPTHTALTLENVCDEP
4:105412681-105412681 G>T	0.0	4264	ESOPHAGEAL	-	-	-	-	CXXC4	ENST00000394767,p.N93K|NM_025212,p.N93K|uc003hxf.2,p.N93K	protein_coding, processed_transcript	uc003hxf.2	nonsynonymous SNV	exon2	c.C279A	p.N93K	AARIGMSPWNCDNAATAAAATAMLW	AARIGMSPWNCDKAATAAAATAMLW	5.0	10.0	-	-	4264_4:105412681-105412681 G>T_AARIGMSPWNCDKAATAAAATAMLW
20:1292981-1292981 C>G	0.0	4264	ESOPHAGEAL	-	-	-	-	SDCBP2	NM_015685,p.K159N|ENST00000381808,p.K159N|uc021vzo.1,p.K244N|ENST00000381812,p.K244N|uc021vzn.1,p.K244N|ENST00000339987,p.K244N|ENST00000360779,p.K244N|NM_080489,p.K244N|NM_001199784,p.K244N|uc002weu.4,p.K159N|uc002wev.4,p.K244N	protein_coding, processed_transcript	uc021vzo.1	nonsynonymous SNV	exon8	c.G732C	p.K244N	VCEVDGQNVIGLKDKKIMEILATAG	VCEVDGQNVIGLNDKKIMEILATAG	10.0	1.0	-	-	4264_20:1292981-1292981 C>G_VCEVDGQNVIGLNDKKIMEILATAG
12:50186672-50186672 C>G	1.0	4264	ESOPHAGEAL	-	-	-	-	NCKAP5L	uc001rvc.3,p.K350N|NM_001037806,p.K1146N|ENST00000335999,p.K1146N|uc001rvb.2,p.K739N|uc009zlk.2,p.K1146N	retained_intron, protein_coding, processed_transcript	uc009zlk.2	nonsynonymous SNV	exon11	c.G3438C	p.K1146N	HGSSGTPSKNLPKTKPPRLDPPPGV	HGSSGTPSKNLPNTKPPRLDPPPGV	6.0	6.0	-	-	4264_12:50186672-50186672 C>G_HGSSGTPSKNLPNTKPPRLDPPPGV
1:238053432-238053432 C>T	0.0	4264	ESOPHAGEAL	-	-	-	-	ZP4	ENST00000366570,p.G74S|NM_021186,p.G74S|uc001hym.3,p.G74S	protein_coding	uc001hym.3	nonsynonymous SNV	exon2	c.G220A	p.G74S	GLLHELQNDSDCGTWIRKGPGSSVV	GLLHELQNDSDCSTWIRKGPGSSVV	1.0	2.0	-	-	4264_1:238053432-238053432 C>T_GLLHELQNDSDCSTWIRKGPGSSVV
9:104375660-104375660 C>T	0.0	4264	ESOPHAGEAL	-	-	-	-	GRIN3A	ENST00000361820,p.E922K|uc004bbp.2,p.E922K|NM_133445,p.E922K|uc004bbq.1,p.E922K	protein_coding, processed_transcript	uc004bbq.1	nonsynonymous SNV	exon6	c.G2764A	p.E922K	VVPCGKRSFAVTETLQMGIKHFSGL	VVPCGKRSFAVTKTLQMGIKHFSGL	3.0	6.0	-	-	4264_9:104375660-104375660 C>T_VVPCGKRSFAVTKTLQMGIKHFSGL
17:48545667-48545667 C>T	0.0	4264	ESOPHAGEAL	-	-	-	-	CHAD	ENST00000508540,p.A170T|uc010dbr.3,p.A170T|NM_001267,p.A170T|uc010dbs.3,p.A170T|ENST00000258969,p.A170T	protein_coding	uc010dbs.3	nonsynonymous SNV	exon1	c.G508A	p.A170T	KIRELRAGAFQGAKDLRWLYLSENA	KIRELRAGAFQGTKDLRWLYLSENA	1.0	9.0	-	-	4264_17:48545667-48545667 C>T_KIRELRAGAFQGTKDLRWLYLSENA
12:8618147-8618147 G>C	0.0	4264	ESOPHAGEAL	-	-	-	-	CLEC6A	uc001qum.1,p.E97D|NM_001007033,p.E97D|ENST00000382073,p.E97D	protein_coding	uc001qum.1	nonsynonymous SNV	exon4	c.G291C	p.E97D	SFGSSCYFISSEEKVWSKSEQNCVE	SFGSSCYFISSEDKVWSKSEQNCVE	2.0	5.0	-	-	4264_12:8618147-8618147 G>C_SFGSSCYFISSEDKVWSKSEQNCVE
4:41984230-41984230 C>G	0.0	4264	ESOPHAGEAL	-	-	-	-	DCAF4L1	NM_001029955,p.H141D|ENST00000333141,p.H141D|uc003gwk.2,p.H141D	protein_coding	uc003gwk.2	nonsynonymous SNV	exon1	c.C421G	p.H141D	SLCWASLNQLDSHVLLCFEGITDAP	SLCWASLNQLDSDVLLCFEGITDAP	3.0	7.0	-	-	4264_4:41984230-41984230 C>G_SLCWASLNQLDSDVLLCFEGITDAP
1:153409614-153409614 G>C	0.0	4264	ESOPHAGEAL	-	-	-	-	S100A7L2	ENST00000368725,p.L87V|uc010pdx.2,p.L87V|NM_001045479,p.L87V	protein_coding	uc010pdx.2	nonsynonymous SNV	exon3	c.C259G	p.L87V	DNKDKKVNYSEFLSLLGDITIDHHK	DNKDKKVNYSEFVSLLGDITIDHHK	1.0	4.0	-	-	4264_1:153409614-153409614 G>C_DNKDKKVNYSEFVSLLGDITIDHHK
1:159770403-159770403 G>C	0.0	4264	ESOPHAGEAL	-	-	-	-	FCRL6	NM_001284217,p.G6R|uc001fuc.2,p.G6R|ENST00000321935,p.G6R	retained_intron, protein_coding	uc001fuc.2	nonsynonymous SNV	exon1	c.G16C	p.G6R	MLPSLGPMLLWTAVLLFV	MLPSLRPMLLWTAVLLFV	5.0	3.0	-	-	4264_1:159770403-159770403 G>C_MLPSLRPMLLWTAVLLFV
1:161197758-161197758 C>G	1.0	4264	ESOPHAGEAL	-	-	-	-	TOMM40L	NM_032174,p.P155A|ENST00000367987,p.P155A|uc010pkl.1,p.P121A|uc001fzd.3,p.P155A|uc001fze.3,p.P155A|ENST00000545897,p.P121A|uc009wue.3,p.P37A|NM_001286373,p.P121A|NM_001286374,p.P90A|ENST00000367988,p.P155A	protein_coding, processed_transcript	uc010pkl.1	nonsynonymous SNV	exon5	c.C361G	p.P121A	GDDYTATLTLGNPDLIGESVIMVAH	GDDYTATLTLGNADLIGESVIMVAH	7.0	2.0	-	-	4264_1:161197758-161197758 C>G_GDDYTATLTLGNADLIGESVIMVAH
4:55592085-55592085 G>A	0.0	4264	ESOPHAGEAL	-	-	-	1	KIT	ENST00000288135,p.G470E|uc010igr.3,p.G470E|NM_000222,p.G470E|ENST00000412167,p.G470E|uc010igs.3,p.G470E|NM_001093772,p.G470E	retained_intron, protein_coding	uc010igs.3	nonsynonymous SNV	exon9	c.G1409A	p.G470E	DVQTLNSSGPPFGKLVVQSSIDSSA	DVQTLNSSGPPFEKLVVQSSIDSSA	6.0	7.0	-	-	4264_4:55592085-55592085 G>A_DVQTLNSSGPPFEKLVVQSSIDSSA
1:103380292-103380292 G>T	0.0	4264	ESOPHAGEAL	-	-	-	-	COL11A1	ENST00000358392,p.P1310T|uc001duk.3,p.P494T|ENST00000512756,p.P1182T|ENST00000353414,p.P1259T|NM_001854,p.P1298T|uc001dul.3,p.P1298T|NM_001190709,p.P1259T|uc009weh.3,p.P1182T|NM_080630,p.P1182T|ENST00000370096,p.P1298T|uc001dun.3,p.P1259T|NM_080629,p.P1310T|uc001dum.3,p.P1310T	retained_intron, protein_coding, processed_transcript	uc009weh.3	nonsynonymous SNV	exon49	c.C3544A	p.P1182T	PPGAAGPPGAKGPPGDDGPKGNPGP	PPGAAGPPGAKGTPGDDGPKGNPGP	7.0	9.0	-	-	4264_1:103380292-103380292 G>T_PPGAAGPPGAKGTPGDDGPKGNPGP
15:98417271-98417271 C>A	0.0	4264	ESOPHAGEAL	-	-	-	-	LINC00923	uc002buh.1,p.G82V|ENST00000503768,p.G82V|ENST00000503874,p.G82V	protein_coding, processed_transcript, nonsense_mediated_decay	uc002buh.1	nonsynonymous SNV	exon1	c.G245T	p.G82V	ASLHFEIGKRQFGAVAGPVHHLLPP	ASLHFEIGKRQFVAVAGPVHHLLPP	1.0	5.0	unscreened	-	4264_15:98417271-98417271 C>A_ASLHFEIGKRQFVAVAGPVHHLLPP
1:248457927-248457927 C>A	0.0	4264	ESOPHAGEAL	-	-	ID=COSM680425;OCCURENCE=1(lung)	-	OR2T12	ENST00000317996,p.R318S|NM_001004692,p.R318S|uc010pzj.2,p.R318S	protein_coding	uc010pzj.2	nonsynonymous SNV	exon1	c.G954T	p.R318S	CVNLKHQQNEAHRSR	CVNLKHQQNEAHSSR	1.0	2.0	-	-	4264_1:248457927-248457927 C>A_CVNLKHQQNEAHSSR
12:4479909-4479909 G>A	0.0	4264	ESOPHAGEAL	-	-	ID=COSM939403;OCCURENCE=1(endometrium),1(large_intestine)	-	FGF23	uc001qmq.1,p.T119M|ENST00000237837,p.T119M|NM_020638,p.T119M	protein_coding	uc001qmq.1	nonsynonymous SNV	exon3	c.C356T	p.T119M	YFDPENCRFQHQTLENGYDVYHSPQ	YFDPENCRFQHQMLENGYDVYHSPQ	2.0	5.0	-	-	4264_12:4479909-4479909 G>A_YFDPENCRFQHQMLENGYDVYHSPQ
18:10705713-10705713 G>A	0.0	4264	ESOPHAGEAL	-	-	-	-	PIEZO2	uc002kos.2,p.R1761C|NM_022068,p.R1761C	-	uc002kos.2	nonsynonymous SNV	exon37	c.C5281T	p.R1761C	SSEPTQCTMLYSRQGTTETIEEVEA	SSEPTQCTMLYSCQGTTETIEEVEA	6.0	9.0	-	-	4264_18:10705713-10705713 G>A_SSEPTQCTMLYSCQGTTETIEEVEA
1:159770403-159770403 G>C	0.0	4264	ESOPHAGEAL	-	-	-	-	FCRL6	ENST00000536257,p.V6L|uc010pix.1,p.V6L	retained_intron, protein_coding	uc010pix.1	nonsynonymous SNV	exon1	c.G16C	p.V6L	MLPSLVPCVGKTVWLYLQ	MLPSLLPCVGKTVWLYLQ	5.0	3.0	-	-	4264_1:159770403-159770403 G>C_MLPSLLPCVGKTVWLYLQ
1:196227339-196227339 A>G	0.0	4264	ESOPHAGEAL	-	-	-	-	KCNT2	NM_001287820,p.S999P|ENST00000294725,p.S1066P|NM_198503,p.S1066P|uc001gtf.1,p.S1042P|uc001gte.1,p.S999P|NM_001287819,p.S1042P|ENST00000367431,p.S1000P|ENST00000367433,p.S1042P|uc001gtd.1,p.S1066P	protein_coding, processed_transcript	uc001gtf.1	nonsynonymous SNV	exon25	c.T3124C	p.S1042P	ELVKNRMKHLGLSTVGYDEMNDHQS	ELVKNRMKHLGLPTVGYDEMNDHQS	3.0	4.0	-	-	4264_1:196227339-196227339 A>G_ELVKNRMKHLGLPTVGYDEMNDHQS
10:81471597-81471597 C>G	0.0	4264	ESOPHAGEAL	-	rs434960	-	1	NUTM2B	NM_001278495,p.Q665E|ENST00000429828,p.Q665E	protein_coding, processed_transcript	NM_001278495	nonsynonymous SNV	exon7	c.C1993G	p.Q665E	GQGAERDVPDPQQGVGMETCPPQMT	GQGAERDVPDPQEGVGMETCPPQMT	5.0	1.0	unscreened	-	4264_10:81471597-81471597 C>G_GQGAERDVPDPQEGVGMETCPPQMT
3:44286424-44286424 C>T	0.0	4264	ESOPHAGEAL	-	-	-	-	TOPAZ1	ENST00000309765,p.S809F|uc003cna.4,p.S809F|NM_001145030,p.S809F	protein_coding	uc003cna.4	nonsynonymous SNV	exon2	c.C2426T	p.S809F	EVASLTVENNAFSCDPGYVEKSPSF	EVASLTVENNAFFCDPGYVEKSPSF	1.0	7.0	-	-	4264_3:44286424-44286424 C>T_EVASLTVENNAFFCDPGYVEKSPSF
1:145328389-145328389 C>G	0.0	4264	ESOPHAGEAL	-	-	ID=COSM1191916;OCCURENCE=1(central_nervous_system)	-	NBPF25P	ENST00000342960,p.Q1413E|uc021oul.2,p.Q1413E	protein_coding, processed_transcript	uc021oul.2	nonsynonymous SNV	exon33	c.C4237G	p.Q1413E	GLALDVDRIKKDQEEEEDEDQDPPC	GLALDVDRIKKDEEEEEDEDQDPPC	8.0	1.0	unscreened	-	4264_1:145328389-145328389 C>G_GLALDVDRIKKDEEEEEDEDQDPPC
10:55566796-55566796 C>T	0.0	4264	ESOPHAGEAL	-	-	ID=COSM1219447;OCCURENCE=1(large_intestine)	-	PCDH15	uc010qhr.2,p.R1524H|uc010qhq.2,p.R1529H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qhr.2	nonsynonymous SNV	exon34	c.G4571A	p.R1524H	SSTGEDSAPECQRNRLHHPSIHSNI	SSTGEDSAPECQHNRLHHPSIHSNI	4.0	7.0	unscreened	-	4264_10:55566796-55566796 C>T_SSTGEDSAPECQHNRLHHPSIHSNI
19:4202061-4202061 C>G	0.0	4264	ESOPHAGEAL	-	-	-	-	ANKRD24	ENST00000597689,p.P99A|ENST00000600132,p.P128A|ENST00000262970,p.P218A|uc002lzt.2,p.P100A|NM_133475,p.P128A|uc002lzs.2,p.P99A|ENST00000318934,p.P128A|uc010dtt.1,p.P128A	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dtt.1	nonsynonymous SNV	exon6	c.C382G	p.P128A	YNALHLAAKYGHPQCLKQLLQASCV	YNALHLAAKYGHAQCLKQLLQASCV	4.0	2.0	-	-	4264_19:4202061-4202061 C>G_YNALHLAAKYGHAQCLKQLLQASCV
9:33558174-33558174 C>G	0.0	4264	ESOPHAGEAL	-	-	-	-	ANKRD18B	uc010mjw.2,p.L754V|ENST00000290943,p.L755V|ENST00000357927,p.L136V|NM_001244752,p.L754V	retained_intron, protein_coding, processed_transcript	uc010mjw.2	nonsynonymous SNV	exon12	c.C2260G	p.L754V	TDQLKMDILFKKLKQKFDDLMAEKE	TDQLKMDILFKKVKQKFDDLMAEKE	7.0	8.0	-	-	4264_9:33558174-33558174 C>G_TDQLKMDILFKKVKQKFDDLMAEKE
1:78207113-78207113 C>G	1.0	4264	ESOPHAGEAL	-	-	-	-	USP33	uc001dhu.4,p.G28A|ENST00000370793,p.G59A|uc001dhw.4,p.G59A|ENST00000370792,p.G59A|ENST00000357428,p.G59A|ENST00000530709,p.G59A|NM_201626,p.G59A|NM_015017,p.G59A|ENST00000524536,p.G59A|ENST00000370794,p.G28A|uc001dht.4,p.G59A|NM_201624,p.G28A|ENST00000524778,p.G28A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dhw.4	nonsynonymous SNV	exon4	c.G176C	p.G59A	EITKEDLIQKSLGTCQDCKVQGPNL	EITKEDLIQKSLATCQDCKVQGPNL	8.0	7.0	-	-	4264_1:78207113-78207113 C>G_EITKEDLIQKSLATCQDCKVQGPNL
5:24493016-24493016 C>T	0.0	4264	ESOPHAGEAL	-	-	-	2	CDH10	ENST00000264463,p.A512T|NM_006727,p.A512T|uc003jgr.2,p.A512T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jgr.2	nonsynonymous SNV	exon10	c.G1534A	p.A512T	NARPGQLIQTISAVDKDDPLGGQKF	NARPGQLIQTISTVDKDDPLGGQKF	3.0	9.0	-	-	4264_5:24493016-24493016 C>T_NARPGQLIQTISTVDKDDPLGGQKF
10:100242405-100242405 C>A	0.0	4264	ESOPHAGEAL	-	-	-	-	HPSE2	ENST00000404542,p.G422V|ENST00000370552,p.G534V|uc001kpo.2,p.G476V|NM_001166245,p.G422V|NM_021828,p.G534V|uc009xwd.2,p.G422V|ENST00000370549,p.G476V|NM_001166244,p.G476V|uc001kpn.2,p.G534V	protein_coding	uc009xwd.2	nonsynonymous SNV	exon9	c.G1265T	p.G422V	VHQYLLQPYGQEGLKSKSVQLNGQP	VHQYLLQPYGQEVLKSKSVQLNGQP	5.0	8.0	-	-	4264_10:100242405-100242405 C>A_VHQYLLQPYGQEVLKSKSVQLNGQP
11:46747520-46747520 G>T	0.0	4264	ESOPHAGEAL	-	-	-	-	F2	ENST00000311907,p.R224L|ENST00000442468,p.R214L|NM_000506,p.R224L|ENST00000530231,p.R224L|uc001ndf.4,p.R224L	retained_intron, protein_coding	uc001ndf.4	nonsynonymous SNV	exon7	c.G671T	p.R224L	QCVPDRGQQYQGRLAVTTHGLPCLA	QCVPDRGQQYQGLLAVTTHGLPCLA	1.0	8.0	-	-	4264_11:46747520-46747520 G>T_QCVPDRGQQYQGLLAVTTHGLPCLA
1:196227339-196227339 A>G	0.0	4264	ESOPHAGEAL	-	-	-	-	KCNT2	uc001gth.1,p.S570P	protein_coding, processed_transcript	uc001gth.1	nonsynonymous SNV	exon12	c.T1708C	p.S570P	ELVKNRMKHLGLSTVGYGMLFKNYC	ELVKNRMKHLGLPTVGYGMLFKNYC	3.0	4.0	-	-	4264_1:196227339-196227339 A>G_ELVKNRMKHLGLPTVGYGMLFKNYC
16:53504046-53504046 A>T	1.0	4264	ESOPHAGEAL	-	-	-	-	RBL2	uc010vgv.1,p.T658S|NM_005611,p.T732S|ENST00000262133,p.T732S|uc002ehj.3,p.T442S|uc002ehi.4,p.T732S	retained_intron, protein_coding, processed_transcript	uc010vgv.1	nonsynonymous SNV	exon15	c.A1972T	p.T658S	TPVPGQTLVTMATATVTANNGQTVT	TPVPGQTLVTMASATVTANNGQTVT	8.0	4.0	-	-	4264_16:53504046-53504046 A>T_TPVPGQTLVTMASATVTANNGQTVT
9:97087707-97087707 T>C	0.0	4264	ESOPHAGEAL	0.66	rs190275133	ID=COSM3849130,COSM3849129;OCCURENCE=1(breast),1(thyroid)	-	NUTM2F	ENST00000253262,p.R176G|ENST00000341207,p.R176G|ENST00000335456,p.R176G|NM_017561,p.R176G|uc004aup.1,p.R176G	protein_coding	uc004aup.1	nonsynonymous SNV	exon2	c.A526G	p.R176G	AQVAPIVSPGNARPWPQGAHGEGSL	AQVAPIVSPGNAGPWPQGAHGEGSL	3.0	2.0	-	-	4264_9:97087707-97087707 T>C_AQVAPIVSPGNAGPWPQGAHGEGSL
4:72319376-72319376 A>G	1.0	4264	ESOPHAGEAL	-	-	-	-	SLC4A4	NM_001134742,p.D496G|uc003hgb.3,p.D452G|uc010iib.3,p.D496G|NM_003759,p.D452G|NM_001098484,p.D496G|ENST00000512686,p.D452G|uc003hga.2,p.D374G|ENST00000340595,p.D452G|ENST00000351898,p.D496G|uc003hfz.3,p.D496G|ENST00000425175,p.D496G|ENST00000264485,p.D496G|uc010iic.3,p.D496G|uc003hgc.4,p.D452G|uc003hfy.3,p.D496G	protein_coding, processed_transcript	uc010iic.3	nonsynonymous SNV	exon12	c.A1487G	p.D496G	AITFGGLLGDATDNMQGVLESFLGT	AITFGGLLGDATGNMQGVLESFLGT	4.0	8.0	-	-	4264_4:72319376-72319376 A>G_AITFGGLLGDATGNMQGVLESFLGT
22:43608561-43608561 G>T	0.0	4264	ESOPHAGEAL	-	-	-	-	SCUBE1	ENST00000360835,p.F697L|NM_173050,p.F697L|uc003bdt.2,p.F697L	protein_coding, processed_transcript	uc003bdt.2	nonsynonymous SNV	exon17	c.C2091A	p.F697L	GQCSPGFFSADGFKPCQACPVGTYQ	GQCSPGFFSADGLKPCQACPVGTYQ	4.0	5.0	-	-	4264_22:43608561-43608561 G>T_GQCSPGFFSADGLKPCQACPVGTYQ
11:124440641-124440641 C>T	0.0	4264	ESOPHAGEAL	-	-	-	-	OR8A1	ENST00000284287,p.T226M|uc010san.2,p.T226M|NM_001005194,p.T226M	protein_coding	uc010san.2	nonsynonymous SNV	exon1	c.C677T	p.T226M	TVFFSAGFNIIVTSLTVLVSYTFIL	TVFFSAGFNIIVMSLTVLVSYTFIL	1.0	6.0	unscreened	-	4264_11:124440641-124440641 C>T_TVFFSAGFNIIVMSLTVLVSYTFIL
3:97583292-97583292 G>C	0.0	4264	ESOPHAGEAL	-	-	-	-	CRYBG3	uc021xbn.2,p.D150H|ENST00000419587,p.D150H|NM_153605,p.D150H	protein_coding	uc021xbn.2	nonsynonymous SNV	exon3	c.G448C	p.D150H	GEAKQSSFKDDQDKTEKDLQNPSDH	GEAKQSSFKDDQHKTEKDLQNPSDH	3.0	2.0	-	-	4264_3:97583292-97583292 G>C_GEAKQSSFKDDQHKTEKDLQNPSDH
1:159032486-159032486 ->T	1.0	4264	ESOPHAGEAL	-	-	-	-	AIM2	NM_004833,p.T343fs|uc001ftj.1,p.T343fs|ENST00000368130,p.T343fs	protein_coding, processed_transcript	uc001ftj.1	frameshift insertion	exon6	c.1027dupA	p.T343fs	HSTIKVIKAKKKT	HSTIKVIKAKKKNI	7.0	2.0	unscreened	-	4264_1:159032486-159032486 ->T_HSTIKVIKAKKKNI
6:148664277-148664277 C>G	1.0	4264	ESOPHAGEAL	-	-	-	-	SASH1	ENST00000367467,p.P25R|NM_015278,p.P25R|uc003qme.1,p.P25R	protein_coding, processed_transcript	uc003qme.1	nonsynonymous SNV	exon1	c.C74G	p.P25R	PEPEPEPEPEPAPEPEPEPKPGAGT	PEPEPEPEPEPAREPEPEPKPGAGT	6.0	8.0	-	-	4264_6:148664277-148664277 C>G_PEPEPEPEPEPAREPEPEPKPGAGT
19:17397500-17397501 TT>-	0.0	4264	ESOPHAGEAL	-	-	-	-	ANKLE1	uc010xpn.1,p.C644fs|NM_001278444,p.C644fs|ENST00000598347,p.C590fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010xpn.1	frameshift deletion	exon8	c.1932_1933del	p.C644fs	CVCVCVCVCVCVCLCVCVCV	CVCVCVCVCVCVCVCVCVCV	5.0	8.0	unscreened	-	4264_19:17397500-17397501 TT>-_CVCVCVCVCVCVCVCVCVCV
10:55566796-55566796 C>T	0.0	4264	ESOPHAGEAL	-	-	ID=COSM1219447;OCCURENCE=1(large_intestine)	-	PCDH15	ENST00000414778,p.R1530H|ENST00000373965,p.R1533H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000414778	nonsynonymous SNV	exon35	c.G4589A	p.R1530H	TGEDSAPECQRNRLHHPSIHSNING	TGEDSAPECQRNHLHHPSIHSNING	4.0	7.0	-	-	4264_10:55566796-55566796 C>T_TGEDSAPECQRNHLHHPSIHSNING
12:13768485-13768485 A>G	0.0	4264	ESOPHAGEAL	-	-	-	-	GRIN2B	ENST00000279593,p.V481A|NM_000834,p.V481A|uc001rbt.2,p.V481A	protein_coding	uc001rbt.2	nonsynonymous SNV	exon6	c.T1442C	p.V481A	SKSVKFTYDLYLVTNGKHGKKINGT	SKSVKFTYDLYLATNGKHGKKINGT	1.0	5.0	-	-	4264_12:13768485-13768485 A>G_SKSVKFTYDLYLATNGKHGKKINGT
1:159779218-159779218 C>G	0.0	4264	ESOPHAGEAL	-	-	-	-	FCRL6	uc009wsz.1,p.L116V|ENST00000392235,p.L116V	retained_intron, protein_coding	uc009wsz.1	nonsynonymous SNV	exon4	c.C346G	p.L116V	QVQAPVSRPVLTLHHGPADPAVGDM	QVQAPVSRPVLTVHHGPADPAVGDM	5.0	6.0	-	-	4264_1:159779218-159779218 C>G_QVQAPVSRPVLTVHHGPADPAVGDM
11:120852818-120852818 T>G	0.0	4264	ESOPHAGEAL	-	-	-	-	GRIK4	uc009zax.1,p.L800R|ENST00000527524,p.L800R|NM_001282470,p.L800R|NM_014619,p.L800R|uc009zaw.1,p.L800R|ENST00000438375,p.L800R|uc001pxn.2,p.L800R	retained_intron, protein_coding, processed_transcript	uc009zax.1	nonsynonymous SNV	exon18	c.T2399G	p.L800R	KCPKEEDHRAKGLGMENIGGIFVVL	KCPKEEDHRAKGRGMENIGGIFVVL	3.0	4.0	-	-	4264_11:120852818-120852818 T>G_KCPKEEDHRAKGRGMENIGGIFVVL
1:159779218-159779218 C>G	0.0	4264	ESOPHAGEAL	-	-	-	-	FCRL6	ENST00000339348,p.L211V|NM_001004310,p.L211V|uc001fuc.2,p.L218V|uc009wta.3,p.L211V|NM_001284217,p.L218V|ENST00000368106,p.L211V|ENST00000321935,p.L218V|uc001fud.4,p.L211V	retained_intron, protein_coding	uc009wta.3	nonsynonymous SNV	exon5	c.C631G	p.L211V	RVQAPVSRPVLTLHHGPADPAVGDM	RVQAPVSRPVLTVHHGPADPAVGDM	5.0	6.0	unscreened	-	4264_1:159779218-159779218 C>G_RVQAPVSRPVLTVHHGPADPAVGDM
1:158450650-158450667 AAGGTTCTCTAAAACTAT>-	0.0	4264	ESOPHAGEAL	-	-	-	-	OR10R2	NM_001004472,p.328_334del|uc010pik.2,p.328_334del|ENST00000368152,p.328_334del	protein_coding	uc010pik.2	nonframeshift deletion	exon1	c.983_1000del	p.328_334del	DVQLAIRKVLGKKGSLKLYN	DVQLAIRKVLGKNN	1.0	3.0	-	-	4264_1:158450650-158450667 AAGGTTCTCTAAAACTAT>-_DVQLAIRKVLGKNN
16:27818855-27818855 C>T	0.0	4264	ESOPHAGEAL	-	-	-	-	GSG1L	uc010bxz.1,p.S147N|ENST00000569166,p.S147N|ENST00000380898,p.S147N	protein_coding, nonsense_mediated_decay	uc010bxz.1	nonsynonymous SNV	exon5	c.G440A	p.S147N	PRSHSWMEKRDGSEEDFHLDCRHER	PRSHSWMEKRDGNEEDFHLDCRHER	2.0	4.0	-	-	4264_16:27818855-27818855 C>T_PRSHSWMEKRDGNEEDFHLDCRHER
16:27818855-27818855 C>T	0.0	4264	ESOPHAGEAL	-	-	-	-	GSG1L	ENST00000395724,p.S233N|ENST00000380897,p.S129N|uc002doy.2,p.S129N|uc010bya.1,p.S233N|uc002doz.2,p.S284N|NM_001109763,p.S284N|ENST00000447459,p.S284N|NM_144675,p.S129N	protein_coding, nonsense_mediated_decay	uc010bya.1	nonsynonymous SNV	exon5	c.G698A	p.S233N	KYFRERMEKRDGSEEDFHLDCRHER	KYFRERMEKRDGNEEDFHLDCRHER	2.0	4.0	-	-	4264_16:27818855-27818855 C>T_KYFRERMEKRDGNEEDFHLDCRHER
2:231359131-231359131 ->A	1.0	4264	ESOPHAGEAL	-	-	-	-	SP100	uc002vqt.3,p.R534fs|NM_001206701,p.R534fs|uc002vqs.3,p.R534fs|NM_001080391,p.R534fs|uc002vqu.1,p.R534fs|ENST00000340126,p.R534fs|NM_003113,p.R534fs|ENST00000409112,p.R534fs|ENST00000264052,p.R534fs|ENST00000452345,p.R179fs	retained_intron, protein_coding	uc002vqu.1	frameshift insertion	exon18	c.1602dupA	p.R534fs	NNSTLEKHSGKRRKKRRHRSKVNGL	NNSTLEKHSGKRRKKEKA	9.0	7.0	-	-	4264_2:231359131-231359131 ->A_NNSTLEKHSGKRRKKEKA
7:100684392-100684392 C>T	0.0	4264	ESOPHAGEAL	-	-	ID=COSM1330225;OCCURENCE=1(ovary)	-	MUC17	ENST00000306151,p.T3232M|ENST00000379439,p.T3232M|uc003uxp.1,p.T3232M|NM_001040105,p.T3232M	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C9695T	p.T3232M	GMTPLTSVPVSNTPVASSEASILST	GMTPLTSVPVSNMPVASSEASILST	1.0	5.0	unscreened	-	4264_7:100684392-100684392 C>T_GMTPLTSVPVSNMPVASSEASILST
12:11545925-11545925 G>A	0.0	4264	ESOPHAGEAL	-	-	-	-	PRB2	NM_006248,p.P363S|uc010shk.1,p.P363S|ENST00000389362,p.P363S	protein_coding, processed_transcript	uc010shk.1	nonsynonymous SNV	exon3	c.C1087T	p.P363S	QGGSKSRSARSPPGKPQGPPQQEGN	QGGSKSRSARSPSGKPQGPPQQEGN	3.0	6.0	-	-	4264_12:11545925-11545925 G>A_QGGSKSRSARSPSGKPQGPPQQEGN
10:16967296-16967296 G>C	0.0	4264	ESOPHAGEAL	-	-	-	-	CUBN	uc001ioo.3,p.S2197C|ENST00000377833,p.S2197C|NM_001081,p.S2197C	protein_coding	uc001ioo.3	nonsynonymous SNV	exon43	c.C6590G	p.S2197C	FTSDNQMFVQFISDHSNEGQGFKIK	FTSDNQMFVQFICDHSNEGQGFKIK	3.0	5.0	-	-	4264_10:16967296-16967296 G>C_FTSDNQMFVQFICDHSNEGQGFKIK
7:123302018-123302018 G>T	0.0	4264	ESOPHAGEAL	-	-	ID=COSM1622275;OCCURENCE=2(liver)	-	LMOD2	ENST00000458573,p.Q126H|NM_207163,p.Q126H|uc003vky.2,p.Q126H	protein_coding	uc003vky.2	nonsynonymous SNV	exon2	c.G378T	p.Q126H	EEVYTEEEEEESQEEEEEEDSDEEE	EEVYTEEEEEESHEEEEEEDSDEEE	1.0	4.0	-	-	4264_7:123302018-123302018 G>T_EEVYTEEEEEESHEEEEEEDSDEEE
1:151006446-151006446 G>T	1.0	4265	PANCREATIC	-	-	-	-	PRUNE	uc001ewj.1,p.M81I|ENST00000368936,p.M184I|ENST00000271620,p.M366I|ENST00000271619,p.M154I|uc001ewi.1,p.M184I|uc010pco.1,p.M134I|ENST00000368937,p.M131I|uc001ewh.1,p.M366I|ENST00000368935,p.M81I|ENST00000368934,p.M131I|uc001ewk.1,p.M131I|NM_021222,p.M366I|ENST00000431193,p.M131I	protein_coding, processed_transcript	uc010pco.1	nonsynonymous SNV	exon5	c.G402T	p.M134I	LLQEALSAYFDSMKIPSGQPETADV	LLQEALSAYFDSIKIPSGQPETADV	7.0	5.0	-	-	4265_1:151006446-151006446 G>T_LLQEALSAYFDSIKIPSGQPETADV
3:168819975-168819975 A>G	1.0	4265	PANCREATIC	-	-	-	1	MECOM	NM_001163999,p.F686L|uc003ffn.3,p.F694L|NM_001105078,p.F694L|ENST00000464456,p.F685L|ENST00000472280,p.F695L|ENST00000460814,p.F685L|uc010hwk.1,p.F708L|uc011bpi.1,p.F686L|ENST00000264674,p.F759L|uc003ffl.2,p.F845L|ENST00000433243,p.F695L|ENST00000468789,p.F694L|ENST00000392736,p.F694L|uc011bpk.1,p.F694L|uc003ffj.3,p.F759L|NM_001164000,p.F685L|NM_005241,p.F694L|NM_001205194,p.F694L|NM_001105077,p.F759L|uc003ffk.2,p.F685L|NM_004991,p.F882L|uc010hwn.2,p.F873L|uc003ffi.3,p.F694L|uc011bpj.1,p.F882L|ENST00000494292,p.F873L	retained_intron, protein_coding, processed_transcript	uc011bpk.1	nonsynonymous SNV	exon10	c.T2080C	p.F694L	SAIENMAEKLESFSALKPEASELLQ	SAIENMAEKLESLSALKPEASELLQ	9.0	4.0	-	-	4265_3:168819975-168819975 A>G_SAIENMAEKLESLSALKPEASELLQ
16:3786138-3786138 C>T	1.0	4265	PANCREATIC	-	-	-	1	CREBBP	ENST00000262367,p.D1543N|NM_004380,p.D1543N|ENST00000382070,p.D1505N|uc002cvw.3,p.D1505N|NM_001079846,p.D1505N|uc002cvv.3,p.D1543N	retained_intron, protein_coding	uc002cvw.3	nonsynonymous SNV	exon27	c.G4513A	p.D1505N	LTSAKELPYFEGDFWPNVLEESIKE	LTSAKELPYFEGNFWPNVLEESIKE	10.0	2.0	-	-	4265_16:3786138-3786138 C>T_LTSAKELPYFEGNFWPNVLEESIKE
19:7527109-7527109 G>T	1.0	4265	PANCREATIC	-	-	-	-	ARHGEF18	NM_015318,p.A496S|NM_001130955,p.A654S|ENST00000319670,p.A496S|uc010xjm.1,p.A496S|uc002mgi.3,p.A654S|ENST00000359920,p.A654S|uc002mgj.1,p.A297S|uc002mgh.3,p.A496S	protein_coding, protein_coding,retained_intron	uc010xjm.1	nonsynonymous SNV	exon13	c.G1486T	p.A496S	SLLEKQQIYLEMAEMGGLEDLPQPR	SLLEKQQIYLEMSEMGGLEDLPQPR	6.0	8.0	-	-	4265_19:7527109-7527109 G>T_SLLEKQQIYLEMSEMGGLEDLPQPR
9:21974699-21974699 C>-	1.0	4265	PANCREATIC	-	-	-	1	CDKN2A	ENST00000380151,p.S43fs|uc003zpj.3,p.S43fs|NM_058197,p.S43fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zpj.3	frameshift deletion	exon1	c.128delG	p.S43fs	LLEAGALPNAPNSYGRRPIQVGRGS	LLEAGALPNAPNITVGGRSRWVEGLQREQGMAGDSGGRSLQGNWNQVALRFSGKRGGFLGSFQKGFVITDLLLATPWGLGKPRKRNEEPARYTSLEC	7.0	8.0	-	translated beyond stop codon reached end of cDNA PR	4265_9:21974699-21974699 C>-_LLEAGALPNAPNITVGGRSRWVEGLQREQGMAGDSGGRSLQGNWNQVALRFSGKRGGFLGSFQKGFVITDLLLATPWGLGKPRKRNEEPARYTSLEC
4:169157404-169157404 T>A	1.0	4265	PANCREATIC	-	-	-	-	DDX60	uc003irp.3,p.K1511M|NM_017631,p.K1511M|ENST00000393743,p.K1511M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003irp.3	nonsynonymous SNV	exon33	c.A4532T	p.K1511M	KFQDAHFEFYQSKVFLDDLPEDFSD	KFQDAHFEFYQSMVFLDDLPEDFSD	8.0	1.0	-	-	4265_4:169157404-169157404 T>A_KFQDAHFEFYQSMVFLDDLPEDFSD
9:21974699-21974699 C>-	1.0	4265	PANCREATIC	-	-	-	1	CDKN2A	ENST00000304494,p.S43fs|ENST00000579122,p.S43fs|uc003zpk.3,p.S43fs|uc010miu.3,p.S43fs|ENST00000498124,p.S43fs|ENST00000446177,p.S43fs|NM_001195132,p.S43fs|NM_000077,p.S43fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010miu.3	frameshift deletion	exon1	c.128delG	p.S43fs	LLEAGALPNAPNSYGRRPIQVMMMG	LLEAGALPNAPNITVGGRSRS	7.0	8.0	-	-	4265_9:21974699-21974699 C>-_LLEAGALPNAPNITVGGRSRS
5:10410309-10410309 G>A	1.0	4265	PANCREATIC	-	-	-	-	MARCH6	ENST00000274140,p.A538T|uc011cmu.2,p.A490T|uc003jeu.2,p.A236T|NM_001270661,p.A433T|NM_005885,p.A538T|uc011cmv.2,p.A433T|ENST00000503788,p.A433T|uc003jet.2,p.A538T|ENST00000510792,p.A236T|NM_001270660,p.A490T|ENST00000449913,p.A490T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmv.2	nonsynonymous SNV	exon15	c.G1297A	p.A433T	SLELLLLQVVLPALLEQGHTRQWLK	SLELLLLQVVLPTLLEQGHTRQWLK	10.0	2.0	-	-	4265_5:10410309-10410309 G>A_SLELLLLQVVLPTLLEQGHTRQWLK
X:18966942-18966942 A>C	1.0	4265	PANCREATIC	-	-	-	-	PHKA2	uc004cyv.4,p.L153V|uc010nfi.1,p.L95V|NM_000292,p.L153V|ENST00000379942,p.L153V	protein_coding, processed_transcript	uc010nfi.1	nonsynonymous SNV	exon4	c.T283G	p.L95V	FLLFLAQMTASGLRIIFTLDEVAFI	FLLFLAQMTASGVRIIFTLDEVAFI	8.0	1.0	-	-	4265_X:18966942-18966942 A>C_FLLFLAQMTASGVRIIFTLDEVAFI
22:30824500-30824500 G>A	1.0	4265	PANCREATIC	-	-	-	-	MTFP1	NM_001003704,p.G83R|ENST00000355143,p.G83R	 nonsense_mediated_decay, protein_coding,retained_intron	NM_001003704	nonsynonymous SNV	exon3	c.G247A	p.G83R	PGLQPAQALPNSGEAQLLLIILWYL	PGLQPAQALPNSREAQLLLIILWYL	8.0	9.0	unscreened	-	4265_22:30824500-30824500 G>A_PGLQPAQALPNSREAQLLLIILWYL
12:25380276-25380276 T>C	1.0	4265	PANCREATIC	-	-	ID=COSM1158660,COSM552;OCCURENCE=1(skin),9(pancreas),1(genital_tract),27(large_intestine),1(prostate),1(central_nervous_system),2(stomach),1(upper_aerodigestive_tract),10(lung),9(thyroid),3(haematopoietic_and_lymphoid_tissue),1(cervix)	1	KRAS	NM_033360,p.Q61R|ENST00000311936,p.Q61R|NM_004985,p.Q61R|ENST00000256078,p.Q61R|uc001rgq.1,p.Q61R|uc001rgp.1,p.Q61R	protein_coding	uc001rgq.1	nonsynonymous SNV	exon3	c.A182G	p.Q61R	ETCLLDILDTAGQEEYSAMRDQYMR	ETCLLDILDTAGREEYSAMRDQYMR	6.0	9.0	-	-	4265_12:25380276-25380276 T>C_ETCLLDILDTAGREEYSAMRDQYMR
X:9682960-9682960 A>G	1.0	4265	PANCREATIC	-	-	-	-	TBL1X	NM_001139467,p.S491G|NM_005647,p.S542G|uc010ndr.3,p.S491G|uc004css.3,p.S493G|uc010ndq.3,p.S542G|NM_001139468,p.S491G|ENST00000380961,p.S491G|ENST00000536365,p.S491G|uc004csq.4,p.S491G|uc004csr.3,p.S542G|ENST00000407597,p.S542G|ENST00000424279,p.S491G|ENST00000217964,p.S542G|NM_001139466,p.S542G	protein_coding, processed_transcript	uc010ndr.3	nonsynonymous SNV	exon16	c.A1471G	p.S491G	HIWNTQSGNLVHSYRGTGGIFEVCW	HIWNTQSGNLVHGYRGTGGIFEVCW	9.0	5.0	-	-	4265_X:9682960-9682960 A>G_HIWNTQSGNLVHGYRGTGGIFEVCW
9:102722420-102722420 T>G	1.0	4265	PANCREATIC	-	-	-	-	STX17	NM_017919,p.F189V|uc004bal.4,p.F189V|ENST00000534052,p.F189V|ENST00000259400,p.F189V|ENST00000525640,p.F189V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004bal.4	nonsynonymous SNV	exon6	c.T565G	p.F189V	ADLIELSQLVTDFSLLVNSQQEKID	ADLIELSQLVTDVSLLVNSQQEKID	8.0	5.0	-	-	4265_9:102722420-102722420 T>G_ADLIELSQLVTDVSLLVNSQQEKID
20:62630407-62630407 T>A	1.0	4265	PANCREATIC	-	-	-	-	PRPF6	ENST00000266079,p.S261T|uc002yho.3,p.S261T|NM_012469,p.S261T|ENST00000535781,p.S261T|uc002yhp.3,p.S261T	protein_coding	uc002yhp.3	nonsynonymous SNV	exon7	c.T781A	p.S261T	TLMDMRLSQVSDSVSGQTVVDPKGY	TLMDMRLSQVSDTVSGQTVVDPKGY	10.0	7.0	CD8	-	4265_20:62630407-62630407 T>A_TLMDMRLSQVSDTVSGQTVVDPKGY
9:116931642-116931642 C>T	1.0	4265	PANCREATIC	-	-	ID=COSM1459500;OCCURENCE=1(large_intestine)	-	COL27A1	uc011lxl.2,p.R603W|ENST00000356083,p.R603W|NM_032888,p.R603W|ENST00000451716,p.R550W|uc010mvd.2,p.R453W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lxl.2	nonsynonymous SNV	exon3	c.C1807T	p.R603W	VLAPAQFLSSSPRPTSSGYSIFHLA	VLAPAQFLSSSPWPTSSGYSIFHLA	7.0	8.0	-	-	4265_9:116931642-116931642 C>T_VLAPAQFLSSSPWPTSSGYSIFHLA
5:179044915-179044915 ->A	1.0	4265	PANCREATIC	-	-	-	-	HNRNPH1	ENST00000442819,p.S269fs|uc003mkh.4,p.S269fs|uc021yjd.1,p.S269fs|NM_005520,p.S269fs|uc003mkg.5,p.S177fs|ENST00000329433,p.S269fs|uc003mke.4,p.S269fs|ENST00000519033,p.S25fs|ENST00000393432,p.S269fs|NM_001257293,p.S269fs|ENST00000523921,p.S83fs|uc003mkf.5,p.S269fs|ENST00000356731,p.S269fs|ENST00000510411,p.S269fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021yjd.1	frameshift insertion	exon7	c.805dupT	p.S269fs	SDRFGRDLNYCFSGMSDHRYGDGGS	SDRFGRDLNYCFFRNV	10.0	1.0	-	-	4265_5:179044915-179044915 ->A_SDRFGRDLNYCFFRNV
12:52370177-52370177 ->C	1.0	4265	PANCREATIC	-	-	-	-	ACVR1B	ENST00000257963,p.G133fs|ENST00000542485,p.G81fs|ENST00000415850,p.G133fs|NM_020328,p.G133fs|ENST00000426655,p.G133fs|uc001rzl.3,p.G133fs|NM_020327,p.G81fs|uc021qya.1,p.G81fs|ENST00000541224,p.G133fs|uc001rzn.3,p.G133fs|NM_004302,p.G133fs|uc010snn.2,p.G133fs|uc001rzm.3,p.G133fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc021qya.1	frameshift insertion	exon3	c.243dupC	p.G81fs	MWGPVELVGIIAGPVFLLFLIIIIV	MWGPVELVGIIAGPGVPPVPHHHHCFPCH	6.0	10.0	-	-	4265_12:52370177-52370177 ->C_MWGPVELVGIIAGPGVPPVPHHHHCFPCH
2:232028374-232028374 A>T	1.0	4265	PANCREATIC	-	-	-	-	PSMD1	ENST00000308696,p.N805I|uc010fxu.2,p.N669I|NM_002807,p.N805I|uc002vrn.2,p.N805I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fxu.2	nonsynonymous SNV	exon20	c.A2006T	p.N669I	KDLKMPKVQYKSNCKPSTFAYPAPL	KDLKMPKVQYKSICKPSTFAYPAPL	10.0	8.0	-	-	4265_2:232028374-232028374 A>T_KDLKMPKVQYKSICKPSTFAYPAPL
5:139889285-139889285 C>A	1.0	4265	PANCREATIC	-	-	-	-	ANKHD1,ANKHD1-EIF4EBP3	uc003lfs.2,p.L1277I|uc003lfv.1,p.L354I|ENST00000532219,p.L1277I|uc003lfu.1,p.L757I|ENST00000297183,p.L1277I|uc003lfq.2,p.L1296I|uc003lfr.3,p.L1277I|uc003lft.1,p.L488I|ENST00000360839,p.L1277I|ENST00000412116,p.L430I|NM_017747,p.L1277I|ENST00000421134,p.L1296I|NM_020690,p.L1277I|uc011czh.1,p.L16I	retained_intron, protein_coding, processed_transcript	uc011czh.1	nonsynonymous SNV	exon1	c.C46A	p.L16I	ASGGYAEVGRVLLDKGADVNAPPVP	ASGGYAEVGRVLIDKGADVNAPPVP	10.0	4.0	-	-	4265_5:139889285-139889285 C>A_ASGGYAEVGRVLIDKGADVNAPPVP
2:100021093-100021093 T>G	1.0	4265	PANCREATIC	-	-	-	-	REV1	NM_001037872,p.Q952H|uc002tad.3,p.Q953H|ENST00000258428,p.Q953H|uc002tac.3,p.Q952H|ENST00000393445,p.Q952H|NM_016316,p.Q953H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tad.3	nonsynonymous SNV	exon18	c.A2859C	p.Q953H	SVLEALPPDLREQVEQVCAVQQAES	SVLEALPPDLREHVEQVCAVQQAES	8.0	7.0	-	-	4265_2:100021093-100021093 T>G_SVLEALPPDLREHVEQVCAVQQAES
8:120629795-120629795 C>T	0.0	4265	PANCREATIC	-	-	-	-	ENPP2	uc003yot.2,p.R163H|ENST00000522826,p.R163H|ENST00000427067,p.R159H|NM_001130863,p.R163H|NM_006209,p.R163H|NM_001040092,p.R163H|ENST00000520066,p.R145H|uc010mdd.2,p.R163H|ENST00000075322,p.R163H|uc003yos.2,p.R163H|ENST00000259486,p.R163H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mdd.2	nonsynonymous SNV	exon6	c.G488A	p.R163H	EIKAAECPAGFVRPPLIIFSVDGFR	EIKAAECPAGFVHPPLIIFSVDGFR	9.0	3.0	-	-	4265_8:120629795-120629795 C>T_EIKAAECPAGFVHPPLIIFSVDGFR
8:95262653-95262653 T>G	1.0	4265	PANCREATIC	-	-	-	-	GEM	uc003ygi.3,p.K259T|NM_005261,p.K259T|uc003ygj.3,p.K259T|ENST00000396194,p.K259T|NM_181702,p.K259T|ENST00000297596,p.K259T	retained_intron, protein_coding	uc003ygj.3	nonsynonymous SNV	exon5	c.A776C	p.K259T	EKNERRLAYQKRKESMPRKARRFWG	EKNERRLAYQKRTESMPRKARRFWG	7.0	1.0	-	-	4265_8:95262653-95262653 T>G_EKNERRLAYQKRTESMPRKARRFWG
4:169325170-169325170 A>C	0.0	4265	PANCREATIC	-	-	-	-	DDX60L	NM_001012967,p.L1101V|uc003irq.4,p.L1101V|ENST00000505890,p.L1101V|ENST00000505863,p.L797V|ENST00000511577,p.L1101V|uc003irr.1,p.L1101V|ENST00000260184,p.L1101V|NM_001291510,p.L1101V|uc021xuh.1,p.L1101V|uc003irs.1,p.L796V	retained_intron, protein_coding, processed_transcript	uc021xuh.1	nonsynonymous SNV	exon24	c.T3301G	p.L1101V	DMVKMFPLLVEKLRQMDKLPAIFFL	DMVKMFPLLVEKVRQMDKLPAIFFL	8.0	6.0	-	-	4265_4:169325170-169325170 A>C_DMVKMFPLLVEKVRQMDKLPAIFFL
5:141336678-141336678 T>C	0.0	4265	PANCREATIC	-	-	-	-	PCDH12	ENST00000231484,p.S247G|NM_016580,p.S247G|uc003llx.3,p.S247G	protein_coding, processed_transcript	uc003llx.3	nonsynonymous SNV	exon1	c.A739G	p.S247G	LDSNDNSPAFAESSLALEIQEDAAP	LDSNDNSPAFAEGSLALEIQEDAAP	6.0	6.0	-	-	4265_5:141336678-141336678 T>C_LDSNDNSPAFAEGSLALEIQEDAAP
6:29796579-29796579 G>T	1.0	4265	PANCREATIC	-	-	-	-	HLA-G	uc003nnw.2,p.E201D|ENST00000428701,p.E201D|ENST00000360323,p.E201D|uc011dmb.3,p.E153D|uc003raj.3,p.E206D|ENST00000376828,p.E206D|NM_002127,p.E201D|uc031snb.1,p.E80D	retained_intron, protein_coding, nonsense_mediated_decay	uc031snb.1	nonsynonymous SNV	exon3	c.G240T	p.E80D	VEWLHRYLENGKEMLQRADPPKTHV	VEWLHRYLENGKDMLQRADPPKTHV	9.0	3.0	-	-	4265_6:29796579-29796579 G>T_VEWLHRYLENGKDMLQRADPPKTHV
10:403773-403773 G>C	1.0	4265	PANCREATIC	-	-	-	-	DIP2C	uc010pzz.1,p.R288G|NM_014974,p.R967G|ENST00000280886,p.R967G|uc009xhi.1,p.R353G|uc001ifp.3,p.R967G|ENST00000540204,p.R288G	protein_coding	uc010pzz.1	nonsynonymous SNV	exon7	c.C862G	p.R288G	RDLGQIEDNDQARKFLFLSEVLQWR	RDLGQIEDNDQAGKFLFLSEVLQWR	7.0	2.0	-	-	4265_10:403773-403773 G>C_RDLGQIEDNDQAGKFLFLSEVLQWR
6:54735088-54735088 A>C	1.0	4265	PANCREATIC	-	-	-	-	FAM83B	ENST00000306858,p.K15T|uc003pck.4,p.K15T|NM_001010872,p.K15T	protein_coding	uc003pck.4	nonsynonymous SNV	exon2	c.A44C	p.K15T	TSSMLSSLNDECKSDNYIEPHYKEW	TSSMLSSLNDECTSDNYIEPHYKEW	4.0	3.0	-	-	4265_6:54735088-54735088 A>C_TSSMLSSLNDECTSDNYIEPHYKEW
7:5331358-5331358 C>G	0.0	4265	PANCREATIC	-	-	-	-	SLC29A4	NM_153247,p.I150M|uc003sod.3,p.I150M|ENST00000396872,p.I150M|NM_001040661,p.I150M|ENST00000297195,p.I150M|uc003soc.3,p.I150M|ENST00000434816,p.I150M	protein_coding, processed_transcript	uc003sod.3	nonsynonymous SNV	exon5	c.C450G	p.I150M	AGYLLALGPLLFISICDVWLQLFSR	AGYLLALGPLLFMSICDVWLQLFSR	5.0	7.0	-	-	4265_7:5331358-5331358 C>G_AGYLLALGPLLFMSICDVWLQLFSR
14:77269815-77269815 T>C	1.0	4265	PANCREATIC	-	-	-	-	ANGEL1	NM_015305,p.K506R|uc001xsv.3,p.K506R|ENST00000557179,p.K71R|ENST00000251089,p.K506R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xsv.3	nonsynonymous SNV	exon7	c.A1517G	p.K506R	VTSCHPKRSERRKYGRDFLLRFRFC	VTSCHPKRSERRRYGRDFLLRFRFC	6.0	9.0	-	-	4265_14:77269815-77269815 T>C_VTSCHPKRSERRRYGRDFLLRFRFC
8:17074701-17074701 A>T	0.0	4265	PANCREATIC	-	-	-	-	ZDHHC2	NM_016353,p.T362S|uc003wxe.3,p.T362S|ENST00000262096,p.T362S	retained_intron, protein_coding	uc003wxe.3	nonsynonymous SNV	exon12	c.A1084T	p.T362S	GKCKAGMSNPALTMENET	GKCKAGMSNPALSMENET	7.0	8.0	-	-	4265_8:17074701-17074701 A>T_GKCKAGMSNPALSMENET
22:25750745-25750745 A>T	1.0	4265	PANCREATIC	-	-	-	-	LRP5L	uc011ajz.2,p.L158H|uc010guw.1,p.L158H|ENST00000402859,p.L158H|ENST00000402785,p.L158H|uc003abs.3,p.L158H|ENST00000444995,p.L158H|NM_182492,p.L158H|NM_001135772,p.L158H	retained_intron, protein_coding, nonsense_mediated_decay	uc011ajz.2	nonsynonymous SNV	exon5	c.T473A	p.L158H	EAISVDETKRQTLLKDKLPHIFRFT	EAISVDETKRQTHLKDKLPHIFRFT	6.0	3.0	-	-	4265_22:25750745-25750745 A>T_EAISVDETKRQTHLKDKLPHIFRFT
7:39612146-39612146 C>G	1.0	4265	PANCREATIC	-	-	-	-	YAE1D1	NM_020192,p.S174R|uc003thc.4,p.S174R|ENST00000223273,p.S174R	retained_intron, protein_coding, processed_transcript	uc003thc.4	nonsynonymous SNV	exon3	c.C522G	p.S174R	ENNAEFNKNCSKSHSGIDCSYVECC	ENNAEFNKNCSKRHSGIDCSYVECC	8.0	10.0	-	-	4265_7:39612146-39612146 C>G_ENNAEFNKNCSKRHSGIDCSYVECC
5:93752931-93752931 T>G	0.0	4265	PANCREATIC	-	-	-	-	KIAA0825	uc011cuk.2,p.L879F|ENST00000427991,p.L879F|NM_001145678,p.L879F|ENST00000513200,p.L879F	retained_intron, protein_coding, processed_transcript	uc011cuk.2	nonsynonymous SNV	exon15	c.A2637C	p.L879F	ANVFVSYMEEEQLWDFLYNIPVSTC	ANVFVSYMEEEQFWDFLYNIPVSTC	5.0	7.0	-	-	4265_5:93752931-93752931 T>G_ANVFVSYMEEEQFWDFLYNIPVSTC
8:120435230-120435230 C>A	1.0	4265	PANCREATIC	-	-	-	-	NOV	uc003yoq.2,p.A311E|ENST00000259526,p.A311E|NM_002514,p.A311E	retained_intron, protein_coding	uc003yoq.2	nonsynonymous SNV	exon5	c.C932A	p.A311E	RCCTPHNTKTIQAEFQCSPGQIVKK	RCCTPHNTKTIQEEFQCSPGQIVKK	5.0	6.0	-	-	4265_8:120435230-120435230 C>A_RCCTPHNTKTIQEEFQCSPGQIVKK
6:131917288-131917288 A>C	1.0	4265	PANCREATIC	-	-	-	-	MED23	NM_004830,p.L932V|NM_001270522,p.L932V|uc031spr.1,p.L932V|ENST00000403834,p.L938V|uc011eca.1,p.L573V|NM_015979,p.L938V|NM_001270521,p.L932V|uc031spq.1,p.L932V|ENST00000368060,p.L932V|ENST00000368068,p.L932V|uc003qcq.4,p.L938V|uc003qcs.2,p.L932V|ENST00000354577,p.L938V|ENST00000545957,p.L573V|ENST00000368058,p.L938V	protein_coding, processed_transcript	uc031spr.1	nonsynonymous SNV	exon22	c.T2794G	p.L932V	KHMNYHKKYPEKLYFEGLAEQVDPP	KHMNYHKKYPEKVYFEGLAEQVDPP	9.0	1.0	-	-	4265_6:131917288-131917288 A>C_KHMNYHKKYPEKVYFEGLAEQVDPP
6:37611632-37611632 T>C	0.0	4265	PANCREATIC	-	-	-	-	MDGA1	uc003onv.1,p.K99R|ENST00000297153,p.K834R|ENST00000505425,p.K830R|uc003onu.1,p.K830R|NM_153487,p.K830R|ENST00000434837,p.K830R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003onv.1	nonsynonymous SNV	exon5	c.A296G	p.K99R	ARLVSPLYNASAKFYCVSFFYHMYG	ARLVSPLYNASARFYCVSFFYHMYG	5.0	2.0	-	-	4265_6:37611632-37611632 T>C_ARLVSPLYNASARFYCVSFFYHMYG
3:38519392-38519392 T>G	1.0	4265	PANCREATIC	-	-	-	-	ACVR2B	ENST00000352511,p.F101V|uc003cif.3,p.F101V|NM_001106,p.F101V	retained_intron, protein_coding	uc003cif.3	nonsynonymous SNV	exon3	c.T301G	p.F101V	ECVATEENPQVYFCCCEGNFCNERF	ECVATEENPQVYVCCCEGNFCNERF	6.0	5.0	-	-	4265_3:38519392-38519392 T>G_ECVATEENPQVYVCCCEGNFCNERF
5:132560969-132560969 C>T	0.0	4265	PANCREATIC	-	-	ID=COSM1252846;OCCURENCE=1(oesophagus)	-	FSTL4	uc003kym.1,p.G2E	retained_intron, protein_coding, processed_transcript	uc003kym.1	nonsynonymous SNV	exon2	c.G5A	p.G2E	MGANSTSAVFGMKT	MEANSTSAVFGMKT	3.0	9.0	-	-	4265_5:132560969-132560969 C>T_MEANSTSAVFGMKT
11:17408699-17408699 G>A	0.0	4265	PANCREATIC	-	-	-	-	KCNJ11	uc001mnb.4,p.R227C|NM_001166290,p.R227C|NM_000525,p.R314C|uc001mna.3,p.R314C|ENST00000339994,p.R314C|ENST00000528731,p.R227C	protein_coding, processed_transcript	uc001mnb.4	nonsynonymous SNV	exon2	c.C679T	p.R227C	TSYLADEILWGQRFVPIVAEEDGRY	TSYLADEILWGQCFVPIVAEEDGRY	3.0	9.0	-	-	4265_11:17408699-17408699 G>A_TSYLADEILWGQCFVPIVAEEDGRY
17:72233533-72233533 A>G	0.0	4265	PANCREATIC	-	-	-	-	TTYH2	uc010wqw.2,p.K151R|NM_032646,p.K172R|uc002jkc.3,p.K172R|ENST00000529107,p.K151R|ENST00000269346,p.K172R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wqw.2	nonsynonymous SNV	exon4	c.A452G	p.K151R	IFAARGDYLQTLKFIQQMAGSVVVQ	IFAARGDYLQTLRFIQQMAGSVVVQ	7.0	6.0	-	-	4265_17:72233533-72233533 A>G_IFAARGDYLQTLRFIQQMAGSVVVQ
4:96127916-96127916 T>G	0.0	4265	PANCREATIC	-	-	-	-	UNC5C	uc003hto.3,p.T589P|ENST00000513796,p.T608P|ENST00000453304,p.T589P|NM_003728,p.T589P|uc010ilc.2,p.T608P	protein_coding	uc010ilc.2	nonsynonymous SNV	exon12	c.A1822C	p.T608P	MRPPMDDSQTLLTPVVSCGPPGALL	MRPPMDDSQTLLPPVVSCGPPGALL	8.0	3.0	-	-	4265_4:96127916-96127916 T>G_MRPPMDDSQTLLPPVVSCGPPGALL
5:140720540-140720540 A>G	1.0	4265	PANCREATIC	-	-	-	-	PCDHGA2	uc003ljk.2,p.I668V|NM_018915,p.I668V|ENST00000394576,p.I668V|NM_032009,p.I668V|uc011dao.2,p.I668V	retained_intron, protein_coding	uc011dao.2	nonsynonymous SNV	exon1	c.A2002G	p.I668V	ATVTLTVAVADRIPDILADLGSLEP	ATVTLTVAVADRVPDILADLGSLEP	5.0	10.0	-	-	4265_5:140720540-140720540 A>G_ATVTLTVAVADRVPDILADLGSLEP
7:48375085-48375085 A>G	0.0	4265	PANCREATIC	-	-	-	-	ABCA13	ENST00000435803,p.S3356G|uc010kys.2,p.S1037G|uc003toq.2,p.S3356G|uc003tos.1,p.S182G|uc031sxg.1,p.S1037G|uc031sxh.1,p.S1037G|NM_152701,p.S3356G	retained_intron, protein_coding, nonsense_mediated_decay	uc031sxh.1	nonsynonymous SNV	exon11	c.A3109G	p.S1037G	LKTLSETLLEMSSLFQRSGSGQMFN	LKTLSETLLEMSGLFQRSGSGQMFN	5.0	3.0	-	-	4265_7:48375085-48375085 A>G_LKTLSETLLEMSGLFQRSGSGQMFN
3:196089246-196089246 C>T	1.0	4265	PANCREATIC	-	-	-	-	UBXN7	uc010iae.3,p.G221R|NM_015562,p.G383R|ENST00000428095,p.G221R|ENST00000296328,p.G383R|uc003fwm.4,p.G383R|ENST00000535858,p.G235R|uc003fwn.4,p.G235R	retained_intron, protein_coding, nonsense_mediated_decay	uc010iae.3	nonsynonymous SNV	exon5	c.G661A	p.G221R	VRTDPGTATNHQGLPAVDSEILEMP	VRTDPGTATNHQRLPAVDSEILEMP	9.0	5.0	-	-	4265_3:196089246-196089246 C>T_VRTDPGTATNHQRLPAVDSEILEMP
6:90428719-90428719 A>G	1.0	4265	PANCREATIC	-	-	-	-	MDN1	uc003pnn.1,p.C2030R|ENST00000428876,p.C2030R|ENST00000369393,p.C2030R|NM_014611,p.C2030R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pnn.1	nonsynonymous SNV	exon42	c.T6088C	p.C2030R	VQLGYSVLSRGSCVPHPSRHPLLLL	VQLGYSVLSRGSRVPHPSRHPLLLL	7.0	7.0	-	-	4265_6:90428719-90428719 A>G_VQLGYSVLSRGSRVPHPSRHPLLLL
4:162307506-162307506 T>G	0.0	4265	PANCREATIC	-	-	-	-	FSTL5	ENST00000427802,p.K636T|NM_020116,p.K646T|uc003iqi.4,p.K645T|ENST00000536695,p.K645T|ENST00000379164,p.K645T|NM_001128428,p.K636T|uc010iqv.4,p.K636T|uc003iqh.4,p.K646T|NM_001128427,p.K645T|ENST00000306100,p.K646T	protein_coding, processed_transcript	uc010iqv.4	nonsynonymous SNV	exon15	c.A1907C	p.K636T	MSYIKTINLKDYKCVPQSLAYTHLG	MSYIKTINLKDYTCVPQSLAYTHLG	1.0	7.0	-	-	4265_4:162307506-162307506 T>G_MSYIKTINLKDYTCVPQSLAYTHLG
2:21227311-21227311 T>C	0.0	4265	PANCREATIC	-	-	-	-	APOB	NM_000384,p.K3973E|uc002red.3,p.K3973E|ENST00000233242,p.K3973E	protein_coding	uc002red.3	nonsynonymous SNV	exon28	c.A11917G	p.K3973E	DGKYEGLQEWEGKAHLNIKSPAFTD	DGKYEGLQEWEGEAHLNIKSPAFTD	3.0	8.0	-	-	4265_2:21227311-21227311 T>C_DGKYEGLQEWEGEAHLNIKSPAFTD
7:73470732-73470732 G>A	1.0	4265	PANCREATIC	0.0005	-	-	2	ELN	uc003tzt.3,p.G433R|ENST00000380576,p.G428R|ENST00000380562,p.G428R|ENST00000380584,p.G414R|NM_001081755,p.G428R|uc003tzs.3,p.G428R|NM_001278939,p.G428R|uc011kff.2,p.G428R|NM_000501,p.G428R|NM_001081752,p.G418R|NM_001278914,p.G423R|uc003tzw.3,p.G428R|uc003tzq.3,p.G311R|ENST00000445912,p.G428R|uc003tzy.3,p.G423R|ENST00000380575,p.G418R|uc003tzv.3,p.G418R|ENST00000458204,p.G418R|uc003tzx.3,p.G418R|uc003tzo.3,p.G414R|NM_001278915,p.G428R|ENST00000414324,p.G423R|NM_001081753,p.G433R|ENST00000429192,p.G433R|uc003tzu.3,p.G433R|NM_001278912,p.G428R|NM_001278917,p.G418R|ENST00000380553,p.G311R|ENST00000357036,p.G433R|uc003tzn.3,p.G428R|ENST00000320399,p.G428R|ENST00000358929,p.G428R|NM_001081754,p.G433R|NM_001278916,p.G414R|ENST00000252034,p.G428R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kff.2	nonsynonymous SNV	exon20	c.G1282A	p.G428R	GVAGVPGVGGVPGVGGVPGVGISPE	GVAGVPGVGGVPRVGGVPGVGISPE	10.0	6.0	-	-	4265_7:73470732-73470732 G>A_GVAGVPGVGGVPRVGGVPGVGISPE
14:60938287-60938287 A>C	0.0	4265	PANCREATIC	-	-	-	-	C14orf39	uc001xez.4,p.I165S|ENST00000321731,p.I165S|NM_174978,p.I165S	protein_coding, nonsense_mediated_decay	uc001xez.4	nonsynonymous SNV	exon6	c.T494G	p.I165S	LACTEQLKMNETIFMKFRVPAPFPS	LACTEQLKMNETSFMKFRVPAPFPS	5.0	9.0	-	-	4265_14:60938287-60938287 A>C_LACTEQLKMNETSFMKFRVPAPFPS
6:132910587-132910587 T>G	0.0	4265	PANCREATIC	-	-	-	-	TAAR5	ENST00000258034,p.D80A|uc003qdk.2,p.D80A|NM_003967,p.D80A	protein_coding	uc003qdk.2	nonsynonymous SNV	exon1	c.A239C	p.D80A	PTNFLLLSLALADMFLGLLVLPLST	PTNFLLLSLALAAMFLGLLVLPLST	1.0	3.0	-	-	4265_6:132910587-132910587 T>G_PTNFLLLSLALAAMFLGLLVLPLST
2:160876669-160876669 T>A	0.0	4265	PANCREATIC	-	-	-	-	PLA2R1	uc002ubf.3,p.E467V|uc010zcp.2,p.E467V|NM_001195641,p.E467V|NM_007366,p.E467V|ENST00000283243,p.E467V|NM_001007267,p.E467V|uc002ube.2,p.E467V|ENST00000392771,p.E467V	protein_coding, processed_transcript	uc010zcp.2	nonsynonymous SNV	exon8	c.A1400T	p.E467V	DSSVIFTNWHTLEPHIFPNRSQLCV	DSSVIFTNWHTLVPHIFPNRSQLCV	5.0	3.0	-	-	4265_2:160876669-160876669 T>A_DSSVIFTNWHTLVPHIFPNRSQLCV
12:20896283-20896283 C>A	0.0	4265	PANCREATIC	-	-	-	-	SLCO1C1	NM_001145946,p.T593K|ENST00000545102,p.T475K|ENST00000540354,p.T544K|NM_001145944,p.T475K|ENST00000545604,p.T593K|NM_017435,p.T593K|uc001rei.3,p.T593K|uc010sij.2,p.T544K|uc010sik.2,p.T475K|uc010sii.2,p.T593K|ENST00000266509,p.T593K|ENST00000381552,p.T593K|NM_001145945,p.T544K|uc009zip.3,p.T427K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sik.2	nonsynonymous SNV	exon11	c.C1424A	p.T475K	KPQLKSFALGIYTLAIRVLAGIPAP	KPQLKSFALGIYKLAIRVLAGIPAP	2.0	9.0	-	-	4265_12:20896283-20896283 C>A_KPQLKSFALGIYKLAIRVLAGIPAP
3:182631691-182631691 T>C	1.0	4265	PANCREATIC	-	-	-	-	ATP11B	uc003flc.3,p.C705R|NM_014616,p.C1121R|ENST00000323116,p.C1121R|uc003flb.3,p.C1121R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003flc.3	nonsynonymous SNV	exon17	c.T2113C	p.C705R	ETNAGIKCLDSMCCFPEGEAACASV	ETNAGIKCLDSMRCFPEGEAACASV	9.0	7.0	-	-	4265_3:182631691-182631691 T>C_ETNAGIKCLDSMRCFPEGEAACASV
17:3336968-3336968 G>T	0.0	4265	PANCREATIC	-	-	-	-	OR1E2	NM_003554,p.H56Q|ENST00000248384,p.H56Q|uc010vre.2,p.H56Q	protein_coding	uc010vre.2	nonsynonymous SNV	exon1	c.C168A	p.H56Q	LIIVLIRLDSHLHTPVYLFLSNLSF	LIIVLIRLDSHLQTPVYLFLSNLSF	1.0	8.0	-	-	4265_17:3336968-3336968 G>T_LIIVLIRLDSHLQTPVYLFLSNLSF
17:39658626-39658626 T>G	0.0	4265	PANCREATIC	-	-	-	-	KRT13	ENST00000246635,p.K415T|uc002hwu.1,p.K415T|NM_153490,p.K415T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hwu.1	nonsynonymous SNV	exon6	c.A1244C	p.K415T	ATYRSLLEGQDAKMIGFPSSAGSVS	ATYRSLLEGQDATMIGFPSSAGSVS	2.0	10.0	-	-	4265_17:39658626-39658626 T>G_ATYRSLLEGQDATMIGFPSSAGSVS
9:138798987-138798987 G>A	0.0	4265	PANCREATIC	-	-	-	-	CAMSAP1	uc004cgr.4,p.R7C|NM_015447,p.R7C|ENST00000389532,p.R7C|ENST00000409386,p.R7C	retained_intron, protein_coding, processed_transcript	uc004cgr.4	nonsynonymous SNV	exon1	c.C19T	p.R7C	MVDASGRAAAEGWRKMEAP	MVDASGCAAAEGWRKMEAP	7.0	10.0	-	-	4265_9:138798987-138798987 G>A_MVDASGCAAAEGWRKMEAP
8:27905105-27905105 C>A	0.0	4265	PANCREATIC	-	-	-	-	NUGGC	ENST00000413272,p.V411F|uc003xgm.4,p.V411F|NM_001010906,p.V411F|ENST00000341513,p.V411F	protein_coding	uc003xgm.4	nonsynonymous SNV	exon11	c.G1231T	p.V411F	EKLKRKLPADFKVLEASDLVYTVSA	EKLKRKLPADFKFLEASDLVYTVSA	3.0	3.0	-	-	4265_8:27905105-27905105 C>A_EKLKRKLPADFKFLEASDLVYTVSA
1:158670405-158670405 A>G	0.0	4265	PANCREATIC	-	-	-	-	OR6K2	NM_001005279,p.I13T|uc001fsu.1,p.I13T|ENST00000359610,p.I13T	protein_coding	uc001fsu.1	nonsynonymous SNV	exon1	c.T38C	p.I13T	MESPNRTTIQEFIFSAFPYSWVKSV	MESPNRTTIQEFTFSAFPYSWVKSV	1.0	5.0	-	-	4265_1:158670405-158670405 A>G_MESPNRTTIQEFTFSAFPYSWVKSV
5:154179550-154179550 A>G	1.0	4265	PANCREATIC	-	-	-	-	LARP1	ENST00000518742,p.E153G|ENST00000336314,p.E478G|ENST00000523163,p.E263G|ENST00000518297,p.E555G|uc021ygh.2,p.E350G|NM_015315,p.E478G|uc010jie.1,p.E350G|ENST00000524248,p.E350G|uc021ygi.1,p.E555G|uc003lvo.4,p.E478G	retained_intron, protein_coding, nonsense_mediated_decay	uc021ygi.1	nonsynonymous SNV	exon10	c.A1664G	p.E555G	KGLSASLPDLDSENWIEVKKRPRPS	KGLSASLPDLDSGNWIEVKKRPRPS	10.0	1.0	-	-	4265_5:154179550-154179550 A>G_KGLSASLPDLDSGNWIEVKKRPRPS
8:113259278-113259278 G>A	0.0	4265	PANCREATIC	0.0	-	-	2	CSMD3	uc003ynt.3,p.T3358M|ENST00000343508,p.T3358M|uc011lhx.2,p.T3229M|ENST00000352409,p.T3328M|ENST00000339701,p.T2668M|NM_052900,p.T3229M|ENST00000455883,p.T3229M|ENST00000297405,p.T3398M|uc003yns.3,p.T2600M|uc003ynu.3,p.T3398M|NM_198124,p.T3358M|NM_198123,p.T3398M	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon62	c.C9686T	p.T3229M	QGSTTRTCLPDLTWSGIQPECIPHS	QGSTTRTCLPDLMWSGIQPECIPHS	3.0	4.0	-	-	4265_8:113259278-113259278 G>A_QGSTTRTCLPDLMWSGIQPECIPHS
2:197531529-197531529 A>T	0.0	4265	PANCREATIC	-	-	-	-	CCDC150	uc002uto.1,p.K283N|ENST00000389175,p.K283N|NM_001080539,p.K283N|uc002utp.1,p.K283N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002utp.1	nonsynonymous SNV	exon7	c.A849T	p.K283N	SAQELLAQEQKKKEELEIATSQLKS	SAQELLAQEQKKNEELEIATSQLKS	5.0	10.0	-	-	4265_2:197531529-197531529 A>T_SAQELLAQEQKKNEELEIATSQLKS
4:36121340-36121340 C>A	0.0	4265	PANCREATIC	-	-	-	-	ARAP2	uc003gsq.2,p.V1299F|ENST00000303965,p.V1299F|NM_015230,p.V1299F	retained_intron, protein_coding, processed_transcript	uc003gsq.2	nonsynonymous SNV	exon24	c.G3895T	p.V1299F	EDLINNYVEIFEVKEDQVKQMDIEN	EDLINNYVEIFEFKEDQVKQMDIEN	7.0	6.0	-	-	4265_4:36121340-36121340 C>A_EDLINNYVEIFEFKEDQVKQMDIEN
1:159683693-159683693 T>A	0.0	4265	PANCREATIC	-	-	-	-	CRP	NM_000567,p.E99D|ENST00000255030,p.E99D|uc001ftw.3,p.E99D	protein_coding, processed_transcript	uc001ftw.3	nonsynonymous SNV	exon2	c.A297T	p.E99D	KDIGYSFTVGGSEILFEVPEVTVAP	KDIGYSFTVGGSDILFEVPEVTVAP	1.0	6.0	-	-	4265_1:159683693-159683693 T>A_KDIGYSFTVGGSDILFEVPEVTVAP
3:30713757-30713757 T>G	1.0	4265	PANCREATIC	-	-	-	1	TGFBR2	uc021wut.1,p.L239R|ENST00000359013,p.L386R|NM_001024847,p.L386R|ENST00000295754,p.L361R|NM_003242,p.L361R|uc003cen.3,p.L386R|uc003ceo.3,p.L361R	protein_coding	uc021wut.1	nonsynonymous SNV	exon4	c.T716G	p.L239R	KLGSSLARGIAHLHSDHTPCGRPKM	KLGSSLARGIAHRHSDHTPCGRPKM	9.0	10.0	-	-	4265_3:30713757-30713757 T>G_KLGSSLARGIAHRHSDHTPCGRPKM
17:7577149-7577149 A>T, 17:7577147-7577148 AG>-	1.0	4265	PANCREATIC	-	-	-	1	TP53	NM_001126112,p.N263K|NM_001126118,p.N224K|uc031qyq.1,p.N224K|NM_001276699,p.N104K|NM_001276695,p.N224K|ENST00000509690,p.N131K|NM_001276698,p.N104K|uc002gij.3,p.N224K|ENST00000359597,p.N263K|NM_001276696,p.N224K|ENST00000420246,p.N263K|NM_001126115,p.N131K|NM_001126116,p.N131K|NM_001276760,p.N224K|NM_001276761,p.N224K|uc010cnf.2,p.N104K|uc002gih.3,p.N263K|uc010cng.2,p.N104K|NM_001276697,p.N104K|uc002gii.2,p.N104K|NM_001126114,p.N263K|ENST00000445888,p.N263K|NM_000546,p.N263K|ENST00000455263,p.N263K|ENST00000269305,p.N263K|NM_001126113,p.N263K|NM_001126117,p.N131K	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon7	c.T672A, c.673_674del	p.N224K, p.L225fs	ILTIITLEDSSGNLLGRNSFEVRVC	ILTIITLEDSSGKTGTEQL	8.0	10.0	-	Additional variant within region, 17:7577147-7577148 AG>- PR	4265_17:7577149-7577149 A>T, 17:7577147-7577148 AG>-_ILTIITLEDSSGKTGTEQL
5:161113984-161113984 T>C	0.0	4265	PANCREATIC	-	-	-	-	GABRA6	NM_000811,p.F67S|uc003lyu.2,p.F67S|ENST00000274545,p.F67S	retained_intron, protein_coding, processed_transcript	uc003lyu.2	nonsynonymous SNV	exon3	c.T200C	p.F67S	VTEVKTDIYVTSFGPVSDVEMEYTM	VTEVKTDIYVTSSGPVSDVEMEYTM	1.0	9.0	-	-	4265_5:161113984-161113984 T>C_VTEVKTDIYVTSSGPVSDVEMEYTM
17:39658626-39658626 T>G	0.0	4265	PANCREATIC	-	-	-	-	KRT13	NM_002274,p.K415T|uc002hwv.1,p.K415T|ENST00000336861,p.K415T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hwv.1	nonsynonymous SNV	exon6	c.A1244C	p.K415T	ATYRSLLEGQDAKKRQPP	ATYRSLLEGQDATKRQPP	2.0	10.0	-	-	4265_17:39658626-39658626 T>G_ATYRSLLEGQDATKRQPP
20:33567510-33567510 G>A	0.0	4265	PANCREATIC	-	-	-	-	MYH7B	uc010gfa.1,p.R82H|uc002xbi.2,p.R124H|NM_020884,p.R124H|ENST00000262873,p.R124H	retained_intron, protein_coding, processed_transcript	uc010gfa.1	nonsynonymous SNV	exon4	c.G245A	p.R82H	VREAELQPMNPPRFDLLEDMAMMTH	VREAELQPMNPPHFDLLEDMAMMTH	3.0	6.0	-	-	4265_20:33567510-33567510 G>A_VREAELQPMNPPHFDLLEDMAMMTH
14:94931183-94931183 T>G	0.0	4265	PANCREATIC	-	-	-	-	SERPINA9	uc001ydf.3,p.E322A|NM_001284276,p.E173A|uc001ydg.3,p.E286A|NM_001284275,p.E286A|ENST00000337425,p.E322A|ENST00000448305,p.E224A|NM_175739,p.E322A|uc001ydh.1,p.E322A|uc001yde.3,p.E222A|ENST00000546329,p.E286A|ENST00000298845,p.E222A|ENST00000380365,p.E304A|uc010avc.3,p.E173A|NM_001042518,p.E222A|ENST00000424550,p.E173A|uc001ydi.1,p.E286A	protein_coding, processed_transcript, nonsense_mediated_decay	uc010avc.3	nonsynonymous SNV	exon5	c.A518C	p.E173A	RKWSHSLQKRWIEVFIPRFSISASY	RKWSHSLQKRWIAVFIPRFSISASY	1.0	6.0	-	-	4265_14:94931183-94931183 T>G_RKWSHSLQKRWIAVFIPRFSISASY
19:50099331-50099331 T>A	1.0	4265	PANCREATIC	-	-	-	-	PRR12	uc002poo.4,p.V580D|ENST00000418929,p.V580D|NM_020719,p.V580D	retained_intron, protein_coding	uc002poo.4	nonsynonymous SNV	exon4	c.T1739A	p.V580D	LQSPPATGRPPGVGSPGAPGKYLSS	LQSPPATGRPPGDGSPGAPGKYLSS	6.0	9.0	-	-	4265_19:50099331-50099331 T>A_LQSPPATGRPPGDGSPGAPGKYLSS
2:49190500-49190500 G>T	0.0	4265	PANCREATIC	-	-	-	-	FSHR	uc010fbn.3,p.A461D|ENST00000406846,p.A487D|uc002rww.3,p.A487D|ENST00000346173,p.A425D|uc002rwx.3,p.A425D|ENST00000541117,p.A223D|ENST00000304421,p.A461D|NM_000145,p.A487D|NM_181446,p.A461D	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fbn.3	nonsynonymous SNV	exon9	c.C1382A	p.A461D	MQLDCKVQLRHAASVMVMGWIFAFA	MQLDCKVQLRHADSVMVMGWIFAFA	4.0	7.0	-	-	4265_2:49190500-49190500 G>T_MQLDCKVQLRHADSVMVMGWIFAFA
5:179223002-179223002 A>C	0.0	4265	PANCREATIC	-	-	-	-	LTC4S	NM_145867,p.Y97S|uc003mko.3,p.Y97S|ENST00000401985,p.Y40S|ENST00000292596,p.Y97S	retained_intron, protein_coding, nonsense_mediated_decay	uc003mko.3	nonsynonymous SNV	exon4	c.A290C	p.Y97S	VYLFARLRYFQGYARSAQLRLAPLY	VYLFARLRYFQGSARSAQLRLAPLY	7.0	1.0	-	-	4265_5:179223002-179223002 A>C_VYLFARLRYFQGSARSAQLRLAPLY
9:138660729-138660729 C>A	0.0	4265	PANCREATIC	-	-	-	-	KCNT1	uc011mdq.2,p.P486T|ENST00000298480,p.P486T|ENST00000491806,p.P453T|ENST00000487664,p.P441T|ENST00000263604,p.P467T|uc004cgo.1,p.P235T|NM_020822,p.P486T|NM_001272003,p.P441T|ENST00000488444,p.P467T|ENST00000486577,p.P447T|ENST00000371757,p.P486T|uc011mdr.2,p.P313T|uc010nbf.3,p.P441T|ENST00000490355,p.P467T	retained_intron, protein_coding, nonsense_mediated_decay	uc011mdr.2	nonsynonymous SNV	exon15	c.C937A	p.P313T	RAWAVKDFAPNCPLYVQILKPENKF	RAWAVKDFAPNCTLYVQILKPENKF	3.0	7.0	-	-	4265_9:138660729-138660729 C>A_RAWAVKDFAPNCTLYVQILKPENKF
1:152278434-152278434 T>G	1.0	4265	PANCREATIC	-	-	-	-	FLG	uc001ezu.1,p.E2976D|NM_002016,p.E2976D|ENST00000368799,p.E2976D	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.A8928C	p.E2976D	ASSHEQARSSAGERHGSHHQQSADS	ASSHEQARSSAGDRHGSHHQQSADS	4.0	10.0	-	-	4265_1:152278434-152278434 T>G_ASSHEQARSSAGDRHGSHHQQSADS
3:169514545-169514545 A>C	0.0	4265	PANCREATIC	-	-	-	-	LRRC34	ENST00000522526,p.L267R|uc003ffx.3,p.L267R|uc003ffy.3,p.L299R|ENST00000446859,p.L299R|NM_001172779,p.L299R|uc021xhd.1,p.L299R|NM_001172780,p.L299R|ENST00000316515,p.L254R|ENST00000522830,p.L238R|NM_153353,p.L267R|uc003fga.4,p.L238R	retained_intron, protein_coding, processed_transcript	uc021xhd.1	nonsynonymous SNV	exon8	c.T896G	p.L299R	CDALYLNSSLRYLDVSCNKITHDGM	CDALYLNSSLRYRDVSCNKITHDGM	4.0	8.0	-	-	4265_3:169514545-169514545 A>C_CDALYLNSSLRYRDVSCNKITHDGM
1:185109312-185109312 A>-	1.0	4265	PANCREATIC	-	-	-	-	TRMT1L	uc001grf.4,p.V301fs|NM_030934,p.V301fs|uc010pon.2,p.V145fs|ENST00000367504,p.V145fs|NM_001202423,p.V145fs|ENST00000367506,p.V301fs	protein_coding, processed_transcript	uc010pon.2	frameshift deletion	exon8	c.434delT	p.V145fs	MGLQWAKHLGNAVKVTINDLNENSV	MGLQWAKHLGNAAKLQSMT	7.0	2.0	-	-	4265_1:185109312-185109312 A>-_MGLQWAKHLGNAAKLQSMT
2:179621123-179621123 T>G	0.0	4265	PANCREATIC	-	-	-	-	TTN	ENST00000589042,p.T3694P|NM_001267550,p.T3694P|NM_133437,p.T3523P|uc031rqc.1,p.T3694P|ENST00000342175,p.T3523P|uc021vsz.2,p.T3523P	retained_intron, protein_coding	uc031rqc.1	nonsynonymous SNV	exon46	c.A11080C	p.T3694P	VLKDDSFIDVTWTHEGAKIEESERL	VLKDDSFIDVTWPHEGAKIEESERL	6.0	4.0	-	-	4265_2:179621123-179621123 T>G_VLKDDSFIDVTWPHEGAKIEESERL
7:5983574-5983574 T>C	0.0	4265	PANCREATIC	-	-	-	-	RSPH10B,RSPH10B2	NM_001099697,p.E526G|uc003sph.1,p.E526G|NM_173565,p.E526G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003sph.1	nonsynonymous SNV	exon14	c.A1577G	p.E526G	PSLFLCFTKLMTENIRPNACQIKGN	PSLFLCFTKLMTGNIRPNACQIKGN	3.0	2.0	-	-	4265_7:5983574-5983574 T>C_PSLFLCFTKLMTGNIRPNACQIKGN
19:9086253-9086253 G>C	0.0	4265	PANCREATIC	-	-	-	2	MUC16	ENST00000397910,p.S1854R|uc002mkp.3,p.S1854R|NM_024690,p.S1854R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C5562G	p.S1854R	TDSLDLSHGVHTSSAGTLATDRSLN	TDSLDLSHGVHTRSAGTLATDRSLN	6.0	6.0	-	-	4265_19:9086253-9086253 G>C_TDSLDLSHGVHTRSAGTLATDRSLN
7:94035598-94035598 G>A	0.0	4265	PANCREATIC	-	-	-	-	COL1A2	uc003ung.1,p.G193S|NM_000089,p.G193S|ENST00000297268,p.G193S	retained_intron, protein_coding	uc003ung.1	nonsynonymous SNV	exon12	c.G577A	p.G193S	GHNGLDGLKGQPGAPGVKGEPGAPG	GHNGLDGLKGQPSAPGVKGEPGAPG	1.0	9.0	-	-	4265_7:94035598-94035598 G>A_GHNGLDGLKGQPSAPGVKGEPGAPG
2:21249725-21249725 G>T	0.0	4265	PANCREATIC	-	-	-	-	APOB	NM_000384,p.P727T|ENST00000233242,p.P727T|uc002red.3,p.P727T|ENST00000399256,p.P727T	protein_coding	uc002red.3	nonsynonymous SNV	exon15	c.C2179A	p.P727T	VNKALYWVNGQVPDGVSKVLVDHFG	VNKALYWVNGQVTDGVSKVLVDHFG	3.0	1.0	-	-	4265_2:21249725-21249725 G>T_VNKALYWVNGQVTDGVSKVLVDHFG
3:183225848-183225848 T>C	0.0	4265	PANCREATIC	-	-	-	-	KLHL6	uc003flr.3,p.E303G|ENST00000341319,p.E303G|ENST00000468734,p.E292G|NM_130446,p.E303G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003flr.3	nonsynonymous SNV	exon3	c.A908G	p.E303G	LQEARMYHLSGNEIISERTKPRMHE	LQEARMYHLSGNGIISERTKPRMHE	5.0	4.0	-	-	4265_3:183225848-183225848 T>C_LQEARMYHLSGNGIISERTKPRMHE
7:5983574-5983574 T>C	0.0	4265	PANCREATIC	-	-	-	-	RSPH10B,RSPH10B2	ENST00000404406,p.E526G|ENST00000405415,p.E526G|ENST00000337579,p.E526G|uc010ktd.1,p.E526G|ENST00000441023,p.E526G|uc003spg.1,p.E373G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ktd.1	nonsynonymous SNV	exon13	c.A1577G	p.E526G	PSLFLCFTKLMTENIRPNAFQIKGN	PSLFLCFTKLMTGNIRPNAFQIKGN	3.0	2.0	-	-	4265_7:5983574-5983574 T>C_PSLFLCFTKLMTGNIRPNAFQIKGN
15:79748875-79748875 G>T	0.0	4265	PANCREATIC	-	-	-	-	KIAA1024	NM_015206,p.C129F|uc002bew.1,p.C129F|uc010unk.1,p.C129F|ENST00000559272,p.C129F|ENST00000305428,p.C129F	protein_coding, nonsense_mediated_decay	uc010unk.1	nonsynonymous SNV	exon1	c.G386T	p.C129F	ASFESCRSDTEICNAAECEPLNCEL	ASFESCRSDTEIFNAAECEPLNCEL	3.0	4.0	-	-	4265_15:79748875-79748875 G>T_ASFESCRSDTEIFNAAECEPLNCEL
10:108448026-108448026 T>C	0.0	4265	PANCREATIC	-	-	-	-	SORCS1	uc021pxw.1,p.Y495C|uc001kyl.3,p.Y495C|uc009xxs.3,p.Y495C|ENST00000263054,p.Y495C|NM_052918,p.Y495C|uc001kym.3,p.Y495C|NM_001206569,p.Y495C|ENST00000369698,p.Y30C|NM_001206571,p.Y495C|NM_001206572,p.Y495C|uc001kyn.2,p.Y495C|ENST00000344440,p.Y495C|NM_001206570,p.Y495C|uc001kyo.3,p.Y495C|NM_001013031,p.Y495C	protein_coding, processed_transcript	uc021pxw.1	nonsynonymous SNV	exon10	c.A1484G	p.Y495C	KKIDNQVKTFITYNKGRDWRLLQAP	KKIDNQVKTFITCNKGRDWRLLQAP	2.0	8.0	-	-	4265_10:108448026-108448026 T>C_KKIDNQVKTFITCNKGRDWRLLQAP
3:183225848-183225848 T>C	0.0	4265	PANCREATIC	-	-	-	-	KLHL6	uc003flt.1,p.E301G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003flt.1	nonsynonymous SNV	exon3	c.A902G	p.E301G	LQEARMYHLSGNEVAKKHSMMFGNI	LQEARMYHLSGNGVAKKHSMMFGNI	5.0	4.0	-	-	4265_3:183225848-183225848 T>C_LQEARMYHLSGNGVAKKHSMMFGNI
5:150663656-150663656 T>G	0.0	4265	PANCREATIC	-	-	-	-	SLC36A3	uc003ltv.2,p.K293T|ENST00000377713,p.K349T|uc003ltw.2,p.K308T|ENST00000335230,p.K308T|NM_001145017,p.K349T|uc003ltx.2,p.K349T|NM_181774,p.K308T	retained_intron, protein_coding	uc003ltx.2	nonsynonymous SNV	exon9	c.A1046C	p.K349T	ILYILLGTLGYMKFGSDTQASITLN	ILYILLGTLGYMTFGSDTQASITLN	1.0	5.0	-	-	4265_5:150663656-150663656 T>G_ILYILLGTLGYMTFGSDTQASITLN
6:155450524-155450524 A>C	0.0	4265	PANCREATIC	-	-	-	-	TIAM2	ENST00000461783,p.K56T|uc003qqb.3,p.K56T|ENST00000529824,p.K56T|ENST00000538270,p.K56T|ENST00000456144,p.K56T|ENST00000360366,p.K56T|uc003qqe.3,p.K56T|NM_012454,p.K56T|ENST00000528535,p.K56T|ENST00000535583,p.K56T|ENST00000318981,p.K56T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qqe.3	nonsynonymous SNV	exon3	c.A167C	p.K56T	HGWGHGSNGAGYKSRSLARSCLSHF	HGWGHGSNGAGYTSRSLARSCLSHF	5.0	5.0	-	-	4265_6:155450524-155450524 A>C_HGWGHGSNGAGYTSRSLARSCLSHF
14:23587928-23587928 G>A	0.0	4265	PANCREATIC	-	-	-	-	CEBPE	uc001wiv.2,p.R125W|ENST00000206513,p.R125W|NM_001805,p.R125W	protein_coding	uc001wiv.2	nonsynonymous SNV	exon1	c.C373T	p.R125W	YDPRAVAVKEEPRGPEGSRAASRGS	YDPRAVAVKEEPWGPEGSRAASRGS	2.0	5.0	-	-	4265_14:23587928-23587928 G>A_YDPRAVAVKEEPWGPEGSRAASRGS
X:21875119-21875119 C>A	0.0	4265	PANCREATIC	-	-	-	-	YY2	ENST00000429584,p.Q173K|NM_206923,p.Q173K|uc011mjp.2,p.Q173K	protein_coding	uc011mjp.2	nonsynonymous SNV	exon1	c.C517A	p.Q173K	SSSLGTRKWEQKQMQVKTLEGEFSV	SSSLGTRKWEQKKMQVKTLEGEFSV	3.0	4.0	-	-	4265_X:21875119-21875119 C>A_SSSLGTRKWEQKKMQVKTLEGEFSV
1:161018668-161018668 C>A	1.0	4265	PANCREATIC	-	-	-	-	ARHGAP30	NM_001025598,p.A715S|NM_001287602,p.A538S|uc001fxm.3,p.A561S|uc001fxl.3,p.A715S|uc009wtx.3,p.A388S|ENST00000368015,p.A538S|ENST00000368013,p.A715S|NM_001287600,p.A567S	retained_intron, protein_coding, nonsense_mediated_decay	uc009wtx.3	nonsynonymous SNV	exon10	c.G1162T	p.A388S	VRLREGSREETEAKEEKSKGQKKAD	VRLREGSREETESKEEKSKGQKKAD	7.0	5.0	-	-	4265_1:161018668-161018668 C>A_VRLREGSREETESKEEKSKGQKKAD
2:44507868-44507868 A>C	0.0	4265	PANCREATIC	-	-	-	-	SLC3A1	ENST00000409229,p.K148N|uc002rub.2,p.K148N|NM_000341,p.K148N|uc002rty.3,p.K148N|ENST00000410056,p.K148N|uc002rtz.2,p.K148N|ENST00000409741,p.K148N|ENST00000260649,p.K148N|ENST00000409387,p.K148N|uc002rua.3,p.K148N|uc002ruc.4,p.K148N	protein_coding	uc002ruc.4	nonsynonymous SNV	exon2	c.A444C	p.K148N	KDGNGDLKGIQDKLDYITALNIKTV	KDGNGDLKGIQDNLDYITALNIKTV	3.0	1.0	-	-	4265_2:44507868-44507868 A>C_KDGNGDLKGIQDNLDYITALNIKTV
16:11362795-11362795 A>C	0.0	4265	PANCREATIC	-	-	-	-	TNP2	NM_005425,p.L109V|uc002das.3,p.L109V|ENST00000312693,p.L109V	retained_intron, protein_coding	uc002das.3	nonsynonymous SNV	exon1	c.T325G	p.L109V	ILHCRCPKNRKNLEGKLKKKKMAKR	ILHCRCPKNRKNVEGKLKKKKMAKR	1.0	2.0	-	-	4265_16:11362795-11362795 A>C_ILHCRCPKNRKNVEGKLKKKKMAKR
22:37261049-37261049 T>C	1.0	4265	PANCREATIC	-	-	-	-	NCF4	uc003apz.4,p.L69P|ENST00000248899,p.L69P|ENST00000397147,p.L69P|uc003apy.4,p.L69P|NM_013416,p.L69P|NM_000631,p.L69P	protein_coding	uc003apz.4	nonsynonymous SNV	exon3	c.T206C	p.L69P	RRYRQFHALQSKLEERFGPDSKSSA	RRYRQFHALQSKPEERFGPDSKSSA	9.0	3.0	-	-	4265_22:37261049-37261049 T>C_RRYRQFHALQSKPEERFGPDSKSSA
12:80749532-80749532 A>C	0.0	4265	PANCREATIC	-	-	-	-	OTOGL	ENST00000547103,p.E1849D|ENST00000458043,p.E1861D|NM_173591,p.E1861D|uc001szd.3,p.E1861D	protein_coding, nonsense_mediated_decay	uc001szd.3	nonsynonymous SNV	exon46	c.A5583C	p.E1861D	CIPEKECACTDSEDQPRTAGEIWNG	CIPEKECACTDSDDQPRTAGEIWNG	4.0	4.0	-	-	4265_12:80749532-80749532 A>C_CIPEKECACTDSDDQPRTAGEIWNG
3:121591449-121591449 A>C	1.0	4265	PANCREATIC	-	-	ID=COSM1037038;OCCURENCE=1(endometrium)	-	EAF2	ENST00000273668,p.S184R|ENST00000451944,p.S184R|uc003een.3,p.S184R|NM_018456,p.S184R|uc003eeo.3,p.S54R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003eeo.3	nonsynonymous SNV	exon4	c.A160C	p.S54R	QMSSCDSSSDSKSSSSSSSEDSSSD	QMSSCDSSSDSKRSSSSSSEDSSSD	6.0	2.0	-	-	4265_3:121591449-121591449 A>C_QMSSCDSSSDSKRSSSSSSEDSSSD
16:348230-348230 C>T	1.0	4265	PANCREATIC	-	-	-	1	AXIN1	uc002cgp.2,p.D426N|uc002cgq.2,p.D426N|NM_003502,p.D426N|ENST00000262320,p.D426N|NM_181050,p.D426N|ENST00000354866,p.D426N	retained_intron, protein_coding, processed_transcript	uc002cgq.2	nonsynonymous SNV	exon6	c.G1276A	p.D426N	KRVRMEEEGEDGDPSSGPPGPCHKL	KRVRMEEEGEDGNPSSGPPGPCHKL	7.0	2.0	-	-	4265_16:348230-348230 C>T_KRVRMEEEGEDGNPSSGPPGPCHKL
20:62119710-62119710 T>C	1.0	4265	PANCREATIC	-	-	-	-	EEF1A2	ENST00000298049,p.S445G|ENST00000217182,p.S445G|NM_001958,p.S445G|uc002yfe.2,p.S445G	protein_coding	uc002yfe.2	nonsynonymous SNV	exon8	c.A1333G	p.S445G	VAVGVIKNVEKKSGGAGKVTKSAQK	VAVGVIKNVEKKGGGAGKVTKSAQK	10.0	1.0	-	-	4265_20:62119710-62119710 T>C_VAVGVIKNVEKKGGGAGKVTKSAQK
2:219418306-219418306 C>A	1.0	4268	COLON	-	-	-	-	USP37	ENST00000454775,p.D100Y|uc010zkf.1,p.D100Y|NM_020935,p.D100Y|ENST00000415516,p.D28Y|uc010fvs.1,p.D100Y|uc010zkg.2,p.D100Y|ENST00000258399,p.D100Y|ENST00000338465,p.D100Y|uc002vig.2,p.D28Y|uc002vie.2,p.D100Y|ENST00000418019,p.D100Y|uc002vif.2,p.D100Y	protein_coding, processed_transcript	uc010zkg.2	nonsynonymous SNV	exon5	c.G298T	p.D100Y	PSKDAEEMRLFLDAVHQNRLPAAMK	PSKDAEEMRLFLYAVHQNRLPAAMK	6.0	3.0	CD8	-	4268_2:219418306-219418306 C>A_PSKDAEEMRLFLYAVHQNRLPAAMK
10:89690811-89690811 A>-	1.0	4268	COLON	-	-	ID=COSM921078;OCCURENCE=1(endometrium)	1	PTEN	uc001kfb.3,p.E73fs|ENST00000371953,p.E73fs|NM_000314,p.E73fs	protein_coding, processed_transcript	uc001kfb.3	frameshift deletion	exon4	c.218delA	p.E73fs	HKNHYKIYNLCAERHYDTAKFNCRV	HKNHYKIYNLCAEDIMTPPNLIAELHNILLKTITHHS	10.0	3.0	-	-	4268_10:89690811-89690811 A>-_HKNHYKIYNLCAEDIMTPPNLIAELHNILLKTITHHS
4:673757-673757 G>A	1.0	4268	COLON	-	-	-	-	MYL5	NM_002477,p.G81E|uc003gav.3,p.G81E|ENST00000511290,p.G40E|ENST00000506838,p.G40E|ENST00000400159,p.G81E|ENST00000505477,p.G40E|ENST00000507804,p.G86E	retained_intron, protein_coding, nonsense_mediated_decay	uc003gav.3	nonsynonymous SNV	exon4	c.G242A	p.G81E	DDELDAMLKEASGPINFTMFLNLFG	DDELDAMLKEASEPINFTMFLNLFG	5.0	4.0	-	-	4268_4:673757-673757 G>A_DDELDAMLKEASEPINFTMFLNLFG
20:40118570-40118570 C>T	1.0	4268	COLON	-	-	-	-	CHD6	ENST00000373233,p.G510S|uc002xka.1,p.G510S|NM_032221,p.G510S|ENST00000309279,p.G510S|uc002xkd.2,p.G488S	protein_coding, processed_transcript	uc002xkd.2	nonsynonymous SNV	exon11	c.G1462A	p.G488S	TFLSEIFLRGIHGPFLIIAPLSTIT	TFLSEIFLRGIHSPFLIIAPLSTIT	9.0	10.0	-	-	4268_20:40118570-40118570 C>T_TFLSEIFLRGIHSPFLIIAPLSTIT
5:64766962-64766962 G>C	1.0	4268	COLON	-	-	-	-	ADAMTS6	ENST00000381055,p.F35L|ENST00000381052,p.F35L|NM_197941,p.F35L|ENST00000536360,p.F35L|ENST00000464680,p.F35L|uc003jtp.3,p.F35L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jtp.3	nonsynonymous SNV	exon3	c.C105G	p.F35L	SDHRLSYSSQEEFLTYLEHYQLTIP	SDHRLSYSSQEELLTYLEHYQLTIP	5.0	8.0	-	-	4268_5:64766962-64766962 G>C_SDHRLSYSSQEELLTYLEHYQLTIP
6:131921281-131921281 G>A	1.0	4268	COLON	-	-	-	-	MED23	ENST00000403834,p.S712L|ENST00000368058,p.S712L|NM_015979,p.S712L|uc003qcq.4,p.S712L|NM_001270521,p.S706L|NM_001270522,p.S706L|uc011eca.1,p.S347L|uc031spq.1,p.S706L|NM_004830,p.S706L|ENST00000368068,p.S706L|ENST00000354577,p.S712L|ENST00000368060,p.S706L|ENST00000545957,p.S347L|ENST00000368053,p.S712L|uc003qct.2,p.S712L|uc003qcs.2,p.S706L|uc031spr.1,p.S706L|ENST00000540546,p.S712L	protein_coding, processed_transcript	uc031spr.1	nonsynonymous SNV	exon18	c.C2117T	p.S706L	ATHVTDFFTGSDSIQGTWCKDILQT	ATHVTDFFTGSDLIQGTWCKDILQT	9.0	8.0	-	-	4268_6:131921281-131921281 G>A_ATHVTDFFTGSDLIQGTWCKDILQT
14:45535798-45535798 G>A	1.0	4268	COLON	-	-	-	-	FAM179B	uc001wvv.3,p.R1473H|uc001wvw.3,p.R1526H|NM_015091,p.R1473H|ENST00000361462,p.R1526H|ENST00000361577,p.R1473H	retained_intron, protein_coding, nonsense_mediated_decay	uc001wvw.3	nonsynonymous SNV	exon17	c.G4577A	p.R1526H	AFNSAERAVTEVREVTRKSVPRNSL	AFNSAERAVTEVHEVTRKSVPRNSL	7.0	10.0	-	-	4268_14:45535798-45535798 G>A_AFNSAERAVTEVHEVTRKSVPRNSL
3:57678737-57678737 C>A	1.0	4268	COLON	-	-	-	-	DENND6A	ENST00000311128,p.L3F|uc003dja.3,p.L3F|NM_152678,p.L3F	retained_intron, protein_coding	uc003dja.3	nonsynonymous SNV	exon1	c.G9T	p.L3F	MALRGPAGLGPGSRR	MAFRGPAGLGPGSRR	9.0	4.0	-	-	4268_3:57678737-57678737 C>A_MAFRGPAGLGPGSRR
10:7679346-7679346 C>T	1.0	4268	COLON	-	-	-	-	ITIH5	ENST00000256861,p.R166H|uc001ijr.2,p.R166H|NM_001001851,p.R166H|uc021pmv.1,p.R166H|ENST00000397145,p.R166H|NM_030569,p.R166H|ENST00000397146,p.R166H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pmv.1	nonsynonymous SNV	exon5	c.G497A	p.R166H	AFFLSYEELLQRRLGKYEHSISVRP	AFFLSYEELLQRHLGKYEHSISVRP	6.0	8.0	-	-	4268_10:7679346-7679346 C>T_AFFLSYEELLQRHLGKYEHSISVRP
2:101898366-101898366 C>G	1.0	4268	COLON	-	-	-	-	RNF149	uc002taz.2,p.D372H|ENST00000295317,p.D372H|ENST00000424632,p.D372H|NM_173647,p.D372H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002taz.2	nonsynonymous SNV	exon6	c.G1114C	p.D372H	PSASPAESEPQCDPSFKGDAGENTA	PSASPAESEPQCHPSFKGDAGENTA	9.0	3.0	CD8	-	4268_2:101898366-101898366 C>G_PSASPAESEPQCHPSFKGDAGENTA
15:74219621-74219621 C>T	0.0	4268	COLON	-	-	-	-	LOXL1	NM_005576,p.T166I|uc002awc.1,p.T166I|ENST00000261921,p.T166I|ENST00000566011,p.T166I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002awc.1	nonsynonymous SNV	exon1	c.C497T	p.T166I	SASSVSASAFASTYRQQPSYPQQFP	SASSVSASAFASIYRQQPSYPQQFP	7.0	4.0	-	-	4268_15:74219621-74219621 C>T_SASSVSASAFASIYRQQPSYPQQFP
11:46397405-46397405 C>A	1.0	4268	COLON	-	-	-	-	DGKZ	uc010rgr.2,p.Q643K|ENST00000528615,p.Q417K|uc001ncm.2,p.Q638K|ENST00000456247,p.Q638K|uc001nck.2,p.Q417K|ENST00000395574,p.Q605K|NM_201532,p.Q655K|uc001nch.2,p.Q655K|NM_003646,p.Q639K|ENST00000527911,p.Q639K|NM_001199268,p.Q616K|uc009yky.1,p.Q639K|uc010rgq.2,p.Q621K|uc001ncl.2,p.Q639K|NM_201533,p.Q643K|NM_001105540,p.Q827K|ENST00000532868,p.Q643K|NM_001199267,p.Q638K|ENST00000454345,p.Q827K|ENST00000343674,p.Q655K|NM_001199266,p.Q639K|ENST00000421244,p.Q639K|uc010rgs.1,p.Q616K|ENST00000318201,p.Q616K|uc001ncn.1,p.Q827K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rgs.1	nonsynonymous SNV	exon20	c.C1846A	p.Q616K	KRRSAAPLHSDQQPVPEQLRIQVSR	KRRSAAPLHSDQKPVPEQLRIQVSR	9.0	8.0	-	-	4268_11:46397405-46397405 C>A_KRRSAAPLHSDQKPVPEQLRIQVSR
10:71835493-71835493 A>T	0.0	4268	COLON	-	-	-	-	H2AFY2	uc001jqm.3,p.R27W|NM_018649,p.R27W|ENST00000455786,p.R27W|ENST00000373255,p.R27W	protein_coding, processed_transcript	uc001jqm.3	nonsynonymous SNV	exon2	c.A79T	p.R27W	RSARAGVIFPVGRLMRYLKKGTFKY	RSARAGVIFPVGWLMRYLKKGTFKY	6.0	1.0	-	-	4268_10:71835493-71835493 A>T_RSARAGVIFPVGWLMRYLKKGTFKY
17:7577538-7577538 C>T	1.0	4268	COLON	-	-	ID=COSM99021,COSM99020,COSM10662,COSM99602,COSM3356964,COSM1640830;OCCURENCE=37(urinary_tract),1(adrenal_gland),2(kidney),17(pancreas),8(liver),5(prostate),154(large_intestine),4(biliary_tract),72(breast),13(skin),7(small_intestine),12(endometrium),1(pituitary),32(ovary),3(cervix),58(haematopoietic_and_lymphoid_tissue),1(pleura),5(thyroid),1(peritoneum),18(lung),37(upper_aerodigestive_tract),2(NS),4(bone),3(vulva),37(oesophagus),45(central_nervous_system),37(stomach)	1	TP53	NM_001276698,p.R89Q|uc002gij.3,p.R209Q|NM_001276696,p.R209Q|ENST00000509690,p.R116Q|NM_001126116,p.R116Q|NM_001126114,p.R248Q|ENST00000445888,p.R248Q|NM_001126112,p.R248Q|NM_001276695,p.R209Q|ENST00000455263,p.R248Q|uc031qyq.1,p.R209Q|ENST00000413465,p.R248Q|ENST00000269305,p.R248Q|NM_001126118,p.R209Q|uc002gio.3,p.R116Q|uc002gig.1,p.R248Q|uc002gin.3,p.R155Q|uc002gii.2,p.R89Q|ENST00000420246,p.R248Q|NM_001126113,p.R248Q|uc010cng.2,p.R89Q|NM_001276760,p.R209Q|NM_001126115,p.R116Q|NM_000546,p.R248Q|uc002gih.3,p.R248Q|NM_001126117,p.R116Q|ENST00000359597,p.R248Q|uc010cnf.2,p.R89Q|NM_001276697,p.R89Q|NM_001276699,p.R89Q|NM_001276761,p.R209Q	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon6	c.G626A	p.R209Q	YMCNSSCMGGMNRRPILTIITLEDS	YMCNSSCMGGMNQRPILTIITLEDS	10.0	9.0	-	-	4268_17:7577538-7577538 C>T_YMCNSSCMGGMNQRPILTIITLEDS
1:209800227-209800227 C>T	1.0	4268	COLON	-	-	-	-	LAMB3	uc009xco.3,p.A528T|ENST00000356082,p.A528T|ENST00000391911,p.A528T|uc001hhh.3,p.A528T|NM_001017402,p.A528T|NM_000228,p.A528T|NM_001127641,p.A528T|ENST00000367030,p.A528T|uc001hhg.3,p.A528T	protein_coding	uc009xco.3	nonsynonymous SNV	exon13	c.G1582A	p.A528T	IRQCPDRTYGDVATGCRACDCDFRG	IRQCPDRTYGDVTTGCRACDCDFRG	9.0	6.0	-	-	4268_1:209800227-209800227 C>T_IRQCPDRTYGDVTTGCRACDCDFRG
22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	0.0	4268	COLON	-	-	-	1	LZTR1	ENST00000215739,p.216_217del|uc002zto.3,p.216_217del|uc002ztn.3,p.175_176del|uc010gsr.1,p.87_88del|ENST00000389355,p.197_198del|uc011ahy.2,p.197_198del|NM_006767,p.216_217del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahy.2	nonframeshift deletion	exon6	c.589_594del	p.197_198del	TIGLQDRELTCWEEVAQSGEIPPSC	TIGLQDRELTCWVAQSGEIPPSCCN	9.0	2.0	unscreened	-	4268_22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-_TIGLQDRELTCWVAQSGEIPPSCCN
3:48631083-48631083 G>A	1.0	4268	COLON	-	-	ID=COSM1235992;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(large_intestine)	-	COL7A1	ENST00000328333,p.R105C|NM_000094,p.R105C|ENST00000454817,p.R105C|uc003ctz.2,p.R105C	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon3	c.C313T	p.R105C	GLDALGSGGDVIRAIRELSYKGGNT	GLDALGSGGDVICAIRELSYKGGNT	6.0	7.0	-	-	4268_3:48631083-48631083 G>A_GLDALGSGGDVICAIRELSYKGGNT
15:35192917-35192917 T>C	1.0	4268	COLON	-	-	-	-	AQR	ENST00000156471,p.T717A|NM_014691,p.T717A|uc001ziv.3,p.T717A	retained_intron, protein_coding, nonsense_mediated_decay	uc001ziv.3	nonsynonymous SNV	exon20	c.A2149G	p.T717A	MPNQIATLDFNDTFLSIEHLKASFP	MPNQIATLDFNDAFLSIEHLKASFP	7.0	7.0	-	-	4268_15:35192917-35192917 T>C_MPNQIATLDFNDAFLSIEHLKASFP
10:26792169-26792169 C>T	1.0	4268	COLON	-	-	-	-	APBB1IP	uc009xks.1,p.A166V|ENST00000376236,p.A166V|uc001iss.3,p.A166V|NM_019043,p.A166V	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xks.1	nonsynonymous SNV	exon6	c.C497T	p.A166V	EEAQAKADKIKLALEKLKEAKVKKL	EEAQAKADKIKLVLEKLKEAKVKKL	8.0	6.0	-	-	4268_10:26792169-26792169 C>T_EEAQAKADKIKLVLEKLKEAKVKKL
12:25398285-25398285 C>G	1.0	4268	COLON	-	-	ID=COSM518,COSM1157797;OCCURENCE=2(cervix),4(testis),13(haematopoietic_and_lymphoid_tissue),2(gastrointestinal_tract_(site_indeterminate)),10(thyroid),1(peritoneum),86(lung),2(upper_aerodigestive_tract),4(bone),1(oesophagus),2(central_nervous_system),1(stomach),5(urinary_tract),591(pancreas),1(prostate),24(biliary_tract),223(large_intestine),3(skin),5(breast),2(small_intestine),3(endometrium),23(ovary)	1	KRAS	NM_004985,p.G12R|ENST00000311936,p.G12R|uc001rgp.1,p.G12R|ENST00000256078,p.G12R|ENST00000557334,p.G12R|ENST00000556131,p.G12R|NM_033360,p.G12R|uc001rgq.1,p.G12R	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G34C	p.G12R	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGARGVGKSALTIQLI	6.0	9.0	-	-	4268_12:25398285-25398285 C>G_MTEYKLVVVGARGVGKSALTIQLI
20:57429837-57429837 G>A	0.0	4268	COLON	-	-	-	1	GNAS	uc002xzw.3,p.R506Q|NM_080425,p.R506Q|ENST00000371100,p.R506Q|ENST00000371102,p.R506Q|ENST00000371099,p.R506Q	retained_intron, protein_coding, processed_transcript	uc002xzw.3	nonsynonymous SNV	exon1	c.G1517A	p.R506Q	AGAPTAPAASATRAAQVRRAASAAP	AGAPTAPAASATQAAQVRRAASAAP	10.0	9.0	-	-	4268_20:57429837-57429837 G>A_AGAPTAPAASATQAAQVRRAASAAP
16:422649-422649 G>A	1.0	4268	COLON	-	-	-	-	TMEM8A	ENST00000448854,p.P209S|ENST00000431232,p.P661S|NM_021259,p.P661S|uc002cgu.4,p.P661S|ENST00000250930,p.P468S|uc002cgv.4,p.P468S	retained_intron, protein_coding, processed_transcript	uc002cgv.4	nonsynonymous SNV	exon12	c.C1402T	p.P468S	QLDRRGMWNMLGPCLFAFVIMASMW	QLDRRGMWNMLGSCLFAFVIMASMW	9.0	8.0	-	-	4268_16:422649-422649 G>A_QLDRRGMWNMLGSCLFAFVIMASMW
7:100549730-100549730 C>A	1.0	4268	COLON	-	-	-	-	MUC3A	ENST00000379458,p.P104Q|NM_005960,p.P104Q	protein_coding	NM_005960	nonsynonymous SNV	exon2	c.C311A	p.P104Q	LNSPVSSNTSTTPTSKFAFKVETTP	LNSPVSSNTSTTQTSKFAFKVETTP	4.0	2.0	-	-	4268_7:100549730-100549730 C>A_LNSPVSSNTSTTQTSKFAFKVETTP
19:16625452-16625452 A>G	1.0	4268	COLON	-	-	-	-	C19orf44	uc002neg.3,p.H595R|ENST00000594035,p.H595R|ENST00000221671,p.H627R|NM_001288834,p.H595R|NM_032207,p.H627R|uc002neh.1,p.H627R	protein_coding, nonsense_mediated_decay	uc002neh.1	nonsynonymous SNV	exon7	c.A1880G	p.H627R	LLRSLDADSFHYHTLEEAKEYIRCH	LLRSLDADSFHYRTLEEAKEYIRCH	4.0	4.0	-	-	4268_19:16625452-16625452 A>G_LLRSLDADSFHYRTLEEAKEYIRCH
19:53007950-53007950 G>C	1.0	4268	COLON	-	-	-	-	ZNF578	ENST00000601120,p.A36P|uc002pzp.4,p.A36P|ENST00000421239,p.A36P|NM_001099694,p.A36P	protein_coding, processed_transcript	uc002pzp.4	nonsynonymous SNV	exon5	c.G106C	p.A36P	LTFRDVAIEFSLAEWKFLNPAQRAL	LTFRDVAIEFSLPEWKFLNPAQRAL	4.0	8.0	-	-	4268_19:53007950-53007950 G>C_LTFRDVAIEFSLPEWKFLNPAQRAL
16:2136218-2136218 T>G	1.0	4268	COLON	-	-	-	1	TSC2	uc002con.3,p.S1563A|uc010bsd.3,p.S1540A|uc010uvv.2,p.S1460A|uc002coq.3,p.S338A|ENST00000401874,p.S1496A|ENST00000219476,p.S1563A|uc010uvw.2,p.S1448A|ENST00000568454,p.S1507A|NM_001114382,p.S1540A|ENST00000439673,p.S1460A|uc002coo.3,p.S1496A|ENST00000350773,p.S1540A|NM_000548,p.S1563A|ENST00000353929,p.S1520A|uc002cop.3,p.S1319A|NM_001077183,p.S1496A|ENST00000382538,p.S1448A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uvw.2	nonsynonymous SNV	exon34	c.T4342G	p.S1448A	GEGQSNSELAILSNEHGSYRYTEFL	GEGQSNSELAILANEHGSYRYTEFL	10.0	2.0	-	-	4268_16:2136218-2136218 T>G_GEGQSNSELAILANEHGSYRYTEFL
1:156499994-156499994 T>C	1.0	4268	COLON	-	-	-	-	IQGAP3	NM_178229,p.K1436R|ENST00000491900,p.K1393R|uc001fpf.3,p.K1436R|ENST00000361170,p.K1436R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001fpf.3	nonsynonymous SNV	exon34	c.A4307G	p.K1436R	SLTAHSLLPLAEKQRRVLRNLRRLE	SLTAHSLLPLAERQRRVLRNLRRLE	6.0	6.0	-	-	4268_1:156499994-156499994 T>C_SLTAHSLLPLAERQRRVLRNLRRLE
20:43955934-43955934 C>A	1.0	4268	COLON	-	-	-	1	SDC4	uc002xnu.3,p.K189N|uc010zws.2,p.K117N|NM_002999,p.K189N|ENST00000372733,p.K189N|ENST00000537976,p.K117N	protein_coding	uc010zws.2	nonsynonymous SNV	exon4	c.G351T	p.K117N	EGSYDLGKKPIYKKAPTNEFYA	EGSYDLGKKPIYNKAPTNEFYA	9.0	1.0	-	-	4268_20:43955934-43955934 C>A_EGSYDLGKKPIYNKAPTNEFYA
1:245851803-245851803 G>A	1.0	4268	COLON	-	-	-	-	KIF26B	uc001ibg.1,p.E1458K|ENST00000407071,p.E1840K|NM_018012,p.E1840K|uc001ibf.1,p.E1840K|uc001ibh.1,p.E1082K|ENST00000366518,p.E1459K	retained_intron, protein_coding, processed_transcript	uc001ibh.1	nonsynonymous SNV	exon3	c.G3244A	p.E1082K	EAEARGGALAEDEPAAAHLLPSPYS	EAEARGGALAEDKPAAAHLLPSPYS	6.0	9.0	-	-	4268_1:245851803-245851803 G>A_EAEARGGALAEDKPAAAHLLPSPYS
22:41077807-41077807 G>A	0.0	4268	COLON	-	-	-	-	MCHR1	uc003ayz.3,p.V382M|NM_005297,p.V382M|uc003aza.3,p.V271M|ENST00000249016,p.V382M|ENST00000381433,p.V256M	protein_coding, processed_transcript	uc003aza.3	nonsynonymous SNV	exon2	c.G811A	p.V271M	YANSCLNPFVYIVLCETFRKRLVLS	YANSCLNPFVYIMLCETFRKRLVLS	5.0	3.0	-	-	4268_22:41077807-41077807 G>A_YANSCLNPFVYIMLCETFRKRLVLS
15:89402303-89402303 G>A	0.0	4268	COLON	-	-	-	-	ACAN	ENST00000352105,p.A2163T|ENST00000559004,p.A2163T|NM_001135,p.A2163T|uc010upp.1,p.A2163T|ENST00000439576,p.A2163T|uc010upo.1,p.A2163T|NM_013227,p.A2163T|ENST00000561243,p.A2163T	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.G6487A	p.A2163T	GSTLTFQEGEASAAPEVSGESTTTS	GSTLTFQEGEASTAPEVSGESTTTS	6.0	8.0	-	-	4268_15:89402303-89402303 G>A_GSTLTFQEGEASTAPEVSGESTTTS
2:197105275-197105275 C>T	1.0	4268	COLON	-	-	ID=COSM281664;OCCURENCE=1(large_intestine)	-	HECW2	ENST00000260983,p.R1221Q|NM_020760,p.R1221Q|uc002utm.1,p.R1221Q|ENST00000409111,p.R865Q|uc002utl.1,p.R865Q	retained_intron, protein_coding	uc002utm.1	nonsynonymous SNV	exon21	c.G3662A	p.R1221Q	YGQGPGKLKLIIRRDHLLEDAFNQI	YGQGPGKLKLIIQRDHLLEDAFNQI	6.0	3.0	-	-	4268_2:197105275-197105275 C>T_YGQGPGKLKLIIQRDHLLEDAFNQI
2:188216992-188216992 G>T	0.0	4268	COLON	-	-	-	-	CALCRL	ENST00000410068,p.A326E|ENST00000409998,p.A326E|NM_005795,p.A326E|uc002upv.5,p.A326E|ENST00000392370,p.A326E|uc010frt.4,p.A326E|NM_001271751,p.A326E	retained_intron, protein_coding, processed_transcript	uc010frt.4	nonsynonymous SNV	exon12	c.C977A	p.A326E	RVLITKLKVTHQAESNLYMKAVRAT	RVLITKLKVTHQEESNLYMKAVRAT	8.0	10.0	-	-	4268_2:188216992-188216992 G>T_RVLITKLKVTHQEESNLYMKAVRAT
10:75551918-75551918 C>T	0.0	4268	COLON	-	-	-	-	ZSWIM8	ENST00000605216,p.R541W|NM_001242487,p.R541W|uc001jve.3,p.R541W|ENST00000492395,p.R160W|ENST00000604729,p.R541W|ENST00000604524,p.R541W|ENST00000603114,p.R541W|ENST00000398706,p.R541W|uc001jvf.3,p.R541W|uc009xrl.3,p.R541W|uc001jvj.3,p.R541W|ENST00000433366,p.R541W|NM_001242488,p.R541W|NM_015037,p.R541W	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xrl.3	nonsynonymous SNV	exon10	c.C1621T	p.R541W	DRPRPLPTEPAVRPKEPGTKRKGLG	DRPRPLPTEPAVWPKEPGTKRKGLG	9.0	9.0	-	-	4268_10:75551918-75551918 C>T_DRPRPLPTEPAVWPKEPGTKRKGLG
12:123473381-123473381 C>T	1.0	4268	COLON	-	-	-	-	PITPNM2	NM_001300801,p.A918T|ENST00000280562,p.A918T|uc001uek.1,p.A918T|ENST00000392428,p.A645T|uc001uej.1,p.A924T|ENST00000320201,p.A924T|ENST00000542749,p.A924T|NM_020845,p.A924T	retained_intron, protein_coding, processed_transcript	uc001uek.1	nonsynonymous SNV	exon19	c.G2752A	p.A918T	AAKWWGQKRIDYALYCPDALTAFPT	AAKWWGQKRIDYTLYCPDALTAFPT	5.0	10.0	-	-	4268_12:123473381-123473381 C>T_AAKWWGQKRIDYTLYCPDALTAFPT
3:195507172-195507172 G>T	1.0	4268	COLON	-	-	-	2	MUC4	ENST00000478156,p.P3760H|ENST00000479406,p.P3760H|ENST00000462323,p.P3760H|ENST00000470451,p.P3760H|ENST00000477756,p.P3760H|ENST00000475231,p.P3760H|ENST00000463781,p.P3760H|ENST00000480843,p.P3760H|ENST00000477086,p.P3760H|ENST00000466475,p.P3760H|NM_018406,p.P3760H|uc021xjp.1,p.P3760H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C11279A	p.P3760H	TSTSSASTGHATPLLVTDASSVSTG	TSTSSASTGHATHLLVTDASSVSTG	6.0	1.0	unscreened	-	4268_3:195507172-195507172 G>T_TSTSSASTGHATHLLVTDASSVSTG
21:43710186-43710186 G>A	1.0	4268	COLON	-	-	-	-	ABCG1	uc010gpb.2,p.A70T	retained_intron, protein_coding, processed_transcript	uc010gpb.2	nonsynonymous SNV	exon3	c.G208A	p.A70T	EGLGPDTPAHHLAHWDRPPHWPAVL	EGLGPDTPAHHLTHWDRPPHWPAVL	9.0	7.0	-	-	4268_21:43710186-43710186 G>A_EGLGPDTPAHHLTHWDRPPHWPAVL
13:43659906-43659906 ->A	0.0	4268	COLON	-	-	-	-	DNAJC15	ENST00000379221,p.P105fs|NM_013238,p.P105fs|uc001uyy.3,p.P105fs	protein_coding, processed_transcript	uc001uyy.3	frameshift insertion	exon5	c.315dupA	p.P105fs	SRREAGLILGVSPSAGKAKIRTAHR	SRREAGLILGVSPICWQG	9.0	4.0	-	-	4268_13:43659906-43659906 ->A_SRREAGLILGVSPICWQG
19:51890427-51890427 G>A	0.0	4268	COLON	-	-	-	-	LIM2	NM_030657,p.R91W|uc002pwl.2,p.R91W|ENST00000221973,p.R91W	protein_coding	uc002pwl.2	nonsynonymous SNV	exon2	c.C271T	p.R91W	AQGHLYSRWRTLRLKEGKGATQAYW	AQGHLYSRWRTLWLKEGKGATQAYW	1.0	2.0	-	-	4268_19:51890427-51890427 G>A_AQGHLYSRWRTLWLKEGKGATQAYW
16:89351191-89351191 C>-	1.0	4268	COLON	-	-	-	-	ANKRD11	ENST00000301030,p.E587fs|uc002fmy.2,p.E587fs|uc002fnb.1,p.E544fs|NM_013275,p.E587fs|NM_001256182,p.E587fs|ENST00000378330,p.E587fs|uc002fmx.2,p.E587fs|NM_001256183,p.E587fs|uc002fnc.2,p.E587fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc002fnc.2	frameshift deletion	exon9	c.1759delG	p.E587fs	SESDYSSEGSSVESLKPVRKRQEHR	SESDYSSEGSSVNR	9.0	2.0	-	-	4268_16:89351191-89351191 C>-_SESDYSSEGSSVNR
15:77327856-77327856 G>A	0.0	4268	COLON	-	-	-	-	PSTPIP1	uc010bkw.1,p.G294R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bkw.1	nonsynonymous SNV	exon12	c.G880A	p.G294R	VRLADSAASRFSGLLHGSPKTTSLA	VRLADSAASRFSRLLHGSPKTTSLA	6.0	5.0	-	-	4268_15:77327856-77327856 G>A_VRLADSAASRFSRLLHGSPKTTSLA
19:58490706-58490706 G>A	0.0	4268	COLON	-	-	-	-	ZNF606	NM_025027,p.R448W|ENST00000536132,p.R358W|uc010yhp.2,p.R358W|uc002qqw.3,p.R448W|ENST00000341164,p.R448W|ENST00000551380,p.R448W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yhp.2	nonsynonymous SNV	exon6	c.C1072T	p.R358W	VFRNRSALTKHERTHTGIKPYECNK	VFRNRSALTKHEWTHTGIKPYECNK	4.0	3.0	-	-	4268_19:58490706-58490706 G>A_VFRNRSALTKHEWTHTGIKPYECNK
X:34148570-34148570 C>T	0.0	4268	COLON	-	-	-	-	FAM47A	NM_203408,p.R609H|uc004ddg.3,p.R609H|ENST00000346193,p.R609H	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.G1826A	p.R609H	DSLQYRYTSEKLREFFKWAGDLGAD	DSLQYRYTSEKLHEFFKWAGDLGAD	1.0	10.0	-	-	4268_X:34148570-34148570 C>T_DSLQYRYTSEKLHEFFKWAGDLGAD
X:67942333-67942333 G>T	0.0	4268	COLON	-	-	-	-	STARD8	NM_014725,p.A802S|ENST00000374599,p.A882S|uc004dxa.3,p.A802S|uc004dxc.4,p.A802S|uc004dxb.3,p.A882S|NM_001142503,p.A882S|ENST00000252336,p.A802S|NM_001142504,p.A802S|ENST00000374597,p.A802S	protein_coding, processed_transcript, nonsense_mediated_decay	uc004dxc.4	nonsynonymous SNV	exon11	c.G2404T	p.A802S	SYSAAELSPPGPALAELRQAQAAGV	SYSAAELSPPGPSLAELRQAQAAGV	5.0	10.0	-	-	4268_X:67942333-67942333 G>T_SYSAAELSPPGPSLAELRQAQAAGV
X:49098573-49098573 G>A	0.0	4268	COLON	-	-	-	-	CCDC22	uc004dnd.2,p.R107H|NM_014008,p.R107H|uc011mna.2,p.R107H|ENST00000376227,p.R107H	protein_coding, processed_transcript	uc011mna.2	nonsynonymous SNV	exon3	c.G320A	p.R107H	PDLRDLLLFLAERLPTDASEDADQP	PDLRDLLLFLAEHLPTDASEDADQP	8.0	2.0	-	-	4268_X:49098573-49098573 G>A_PDLRDLLLFLAEHLPTDASEDADQP
5:1244346-1244346 T>C	0.0	4268	COLON	-	-	-	-	SLC6A18	uc003jby.2,p.C452R|NM_182632,p.C452R|ENST00000324642,p.C452R	retained_intron, protein_coding	uc003jby.2	nonsynonymous SNV	exon10	c.T1354C	p.C452R	PKEALTGLVCLVCFLSATCFTLQSG	PKEALTGLVCLVRFLSATCFTLQSG	1.0	7.0	-	-	4268_5:1244346-1244346 T>C_PKEALTGLVCLVRFLSATCFTLQSG
15:65688501-65688501 G>A	0.0	4268	COLON	-	-	-	-	IGDCC4	ENST00000352385,p.A333V|uc002aou.1,p.A333V|NM_020962,p.A333V	retained_intron, protein_coding, processed_transcript	uc002aou.1	nonsynonymous SNV	exon7	c.C998T	p.A333V	DFATAAAELRVLAAPAITQAPEALS	DFATAAAELRVLVAPAITQAPEALS	3.0	7.0	-	-	4268_15:65688501-65688501 G>A_DFATAAAELRVLVAPAITQAPEALS
19:37487513-37487513 A>C	0.0	4268	COLON	-	-	-	-	ZNF568	NM_001204839,p.H243P|NM_001204838,p.H307P|ENST00000455427,p.H243P|uc010xtn.2,p.H243P|uc010efj.2,p.H111P|uc010efg.3,p.H307P|ENST00000444991,p.H307P|ENST00000433993,p.H175P|uc010efi.2,p.H111P	retained_intron, protein_coding	uc010xtn.2	nonsynonymous SNV	exon9	c.A728C	p.H243P	RYQSCPIQHEIIHNKEKEPECGECR	RYQSCPIQHEIIPNKEKEPECGECR	5.0	1.0	-	-	4268_19:37487513-37487513 A>C_RYQSCPIQHEIIPNKEKEPECGECR
12:40114642-40114642 G>A	0.0	4268	COLON	-	-	-	-	C12orf40	uc001rmc.3,p.M516I|NM_001031748,p.M516I|ENST00000324616,p.M516I	protein_coding, processed_transcript	uc001rmc.3	nonsynonymous SNV	exon13	c.G1548A	p.M516I	DQISQQIEDSNRMTIKTKEKMNNFY	DQISQQIEDSNRITIKTKEKMNNFY	1.0	2.0	-	-	4268_12:40114642-40114642 G>A_DQISQQIEDSNRITIKTKEKMNNFY
3:4767263-4767263 G>A	0.0	4268	COLON	-	-	-	-	ITPR1	uc003bqc.3,p.E1709K|NM_001168272,p.E1709K|ENST00000443694,p.E1709K|ENST00000302640,p.E1709K	retained_intron, protein_coding, processed_transcript	uc003bqc.3	nonsynonymous SNV	exon40	c.G5125A	p.E1709K	ELPPAPDSENATEELEPSPPLRQLE	ELPPAPDSENATKELEPSPPLRQLE	7.0	6.0	-	-	4268_3:4767263-4767263 G>A_ELPPAPDSENATKELEPSPPLRQLE
19:52942173-52942173 T>C	0.0	4268	COLON	-	-	-	-	ZNF534	uc002pzk.3,p.I500T|NM_001143939,p.I500T|NM_001143938,p.I487T|uc002pzl.3,p.I487T|ENST00000332323,p.I500T|ENST00000433050,p.I487T	protein_coding	uc002pzl.3	nonsynonymous SNV	exon4	c.T1460C	p.I487T	FSQNSNLQRHRKIHTGEKLYKCNEC	FSQNSNLQRHRKTHTGEKLYKCNEC	1.0	4.0	-	-	4268_19:52942173-52942173 T>C_FSQNSNLQRHRKTHTGEKLYKCNEC
2:26798950-26798950 C>T	1.0	4268	COLON	-	-	-	-	C2orf70	ENST00000409392,p.R73C	retained_intron, protein_coding	ENST00000409392	nonsynonymous SNV	exon3	c.C217T	p.R73C	LLHQPQPPADGARQHPGPLAAQAQL	LLHQPQPPADGACQHPGPLAAQAQL	4.0	10.0	-	-	4268_2:26798950-26798950 C>T_LLHQPQPPADGACQHPGPLAAQAQL
15:77327856-77327856 G>A	0.0	4268	COLON	-	-	-	-	PSTPIP1	NM_003978,p.G313R|uc002bcf.2,p.G313R|uc010bku.1,p.G304R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bku.1	nonsynonymous SNV	exon14	c.G910A	p.G304R	IQPSCGMIKRFSGLLHGSPKTTSLA	IQPSCGMIKRFSRLLHGSPKTTSLA	6.0	5.0	-	-	4268_15:77327856-77327856 G>A_IQPSCGMIKRFSRLLHGSPKTTSLA
19:15905697-15905697 C>T	0.0	4268	COLON	-	-	-	-	OR10H5	ENST00000308940,p.T280M|NM_001004466,p.T280M|uc010xos.2,p.T280M	protein_coding	uc010xos.2	nonsynonymous SNV	exon1	c.C839T	p.T280M	SPEGDTLMGITYTVLTPFLSPIIFS	SPEGDTLMGITYMVLTPFLSPIIFS	1.0	5.0	-	-	4268_19:15905697-15905697 C>T_SPEGDTLMGITYMVLTPFLSPIIFS
13:39541095-39541095 C>T	0.0	4268	COLON	-	-	-	-	STOML3	uc010tez.2,p.R239H|NM_145286,p.R248H|ENST00000379631,p.R248H|ENST00000423210,p.R239H|NM_001144033,p.R239H|uc001uwx.3,p.R248H	protein_coding	uc010tez.2	nonsynonymous SNV	exon8	c.G716A	p.R239H	MVLAESPIALQLRYLQTLSTVATEK	MVLAESPIALQLHYLQTLSTVATEK	4.0	2.0	-	-	4268_13:39541095-39541095 C>T_MVLAESPIALQLHYLQTLSTVATEK
20:57429837-57429837 G>A	0.0	4268	COLON	-	-	-	1	GNAS	ENST00000306120,p.G443R|NM_001077490,p.G444R	retained_intron, protein_coding, processed_transcript	NM_001077490	nonsynonymous SNV	exon1	c.G1330A	p.G444R	QGLPLPQPLLPPGQPKSAGRPLQPL	QGLPLPQPLLPPRQPKSAGRPLQPL	10.0	9.0	unscreened	-	4268_20:57429837-57429837 G>A_QGLPLPQPLLPPRQPKSAGRPLQPL
11:100999477-100999477 C>T	0.0	4268	COLON	-	-	ID=COSM3687053;OCCURENCE=1(large_intestine)	-	PGR	ENST00000526300,p.G109R|ENST00000528960,p.G109R|ENST00000325455,p.G109R|ENST00000263463,p.G109R|NM_000926,p.G109R|uc001pgh.2,p.G109R|ENST00000534780,p.G109R	retained_intron, protein_coding, nonsense_mediated_decay	uc001pgh.2	nonsynonymous SNV	exon1	c.G325A	p.G109R	GGSSSSPPEKDSGLLDSVLDTLLAP	GGSSSSPPEKDSRLLDSVLDTLLAP	3.0	1.0	-	-	4268_11:100999477-100999477 C>T_GGSSSSPPEKDSRLLDSVLDTLLAP
1:186136000-186136000 C>T	0.0	4268	COLON	-	-	-	-	HMCN1	uc001grs.1,p.T736M|ENST00000367492,p.T5167M|uc001grq.1,p.T5167M|NM_031935,p.T5167M|ENST00000271588,p.T5167M	protein_coding, processed_transcript	uc001grs.1	nonsynonymous SNV	exon18	c.C2207T	p.T736M	RHTCHAGQDCDNTIGSYRCVVRCGS	RHTCHAGQDCDNMIGSYRCVVRCGS	9.0	5.0	-	-	4268_1:186136000-186136000 C>T_RHTCHAGQDCDNMIGSYRCVVRCGS
2:31167751-31167751 C>T	0.0	4268	COLON	-	-	-	-	GALNT14	ENST00000406653,p.R247Q|uc002rns.3,p.R272Q|ENST00000420311,p.R232Q|ENST00000324589,p.R272Q|uc002rnq.3,p.R247Q|ENST00000430167,p.R234Q|uc010ymr.2,p.R232Q|NM_001253826,p.R272Q|uc002rnr.3,p.R267Q|uc010ezo.2,p.R234Q|NM_001253827,p.R247Q|ENST00000356174,p.R234Q|ENST00000349752,p.R267Q|NM_024572,p.R267Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ymr.2	nonsynonymous SNV	exon9	c.G695A	p.R232Q	FQWEQLSPEQKARRLDPTEPIRTPI	FQWEQLSPEQKAQRLDPTEPIRTPI	4.0	10.0	-	-	4268_2:31167751-31167751 C>T_FQWEQLSPEQKAQRLDPTEPIRTPI
1:175355288-175355288 G>T	0.0	4268	COLON	-	-	-	-	TNR	uc001gkp.1,p.Q553K|NM_003285,p.Q553K|ENST00000367674,p.Q553K|ENST00000263525,p.Q553K|uc009wwu.1,p.Q553K	protein_coding	uc009wwu.1	nonsynonymous SNV	exon8	c.C1657A	p.Q553K	VGGEGGRTTFRLQPPLSQYSVQALR	VGGEGGRTTFRLKPPLSQYSVQALR	2.0	6.0	-	-	4268_1:175355288-175355288 G>T_VGGEGGRTTFRLKPPLSQYSVQALR
19:55450836-55450836 C>T	0.0	4268	COLON	-	-	-	-	NLRP7	ENST00000586379,p.G451R|ENST00000448121,p.G451R|uc002qii.4,p.G451R|ENST00000592784,p.G451R|ENST00000588756,p.G451R|NM_206828,p.G451R|ENST00000446217,p.G479R|NM_001127255,p.G451R|ENST00000340844,p.G451R|uc002qig.4,p.G451R|uc010esl.3,p.G479R|ENST00000328092,p.G451R|uc010esk.3,p.G451R|NM_139176,p.G451R|ENST00000590030,p.G451R|uc002qih.4,p.G451R	protein_coding, nonsense_mediated_decay	uc010esl.3	nonsynonymous SNV	exon6	c.G1435A	p.G479R	GVQESDLRLFLDGDILRQDRVSKGC	GVQESDLRLFLDRDILRQDRVSKGC	3.0	1.0	-	-	4268_19:55450836-55450836 C>T_GVQESDLRLFLDRDILRQDRVSKGC
1:248366832-248366832 G>C	0.0	4268	COLON	-	-	-	-	OR2M3	uc010pzg.2,p.D155H|NM_001004689,p.D155H|ENST00000456743,p.D155H	protein_coding	uc010pzg.2	nonsynonymous SNV	exon1	c.G463C	p.D155H	LMTAFSWILGSTDGIIDVVATFSFS	LMTAFSWILGSTHGIIDVVATFSFS	1.0	7.0	-	-	4268_1:248366832-248366832 G>C_LMTAFSWILGSTHGIIDVVATFSFS
2:186603386-186603386 G>A	0.0	4268	COLON	-	-	-	-	FSIP2	uc002upl.3,p.R11K|NM_173651,p.R11K|ENST00000343098,p.R11K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon1	c.G32A	p.R11K	MKFQLWSSQIRPLGPIFPALRAL	MKFQLWSSQIKPLGPIFPALRAL	1.0	9.0	-	-	4268_2:186603386-186603386 G>A_MKFQLWSSQIKPLGPIFPALRAL
19:17032769-17032769 C>T	0.0	4268	COLON	-	-	ID=COSM1391348;OCCURENCE=1(large_intestine)	-	CPAMD8	NM_015692,p.R1239H|ENST00000443236,p.R1239H|uc002nfb.3,p.R1239H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nfb.3	nonsynonymous SNV	exon27	c.G3716A	p.R1239H	LVQGYQRQLTYKRQDGSYSAFGERD	LVQGYQRQLTYKHQDGSYSAFGERD	4.0	8.0	-	-	4268_19:17032769-17032769 C>T_LVQGYQRQLTYKHQDGSYSAFGERD
3:49200495-49200495 G>C	1.0	4268	COLON	-	-	-	-	CCDC71	uc003cwg.4,p.P383A|NM_022903,p.P383A|ENST00000321895,p.P383A|uc021wxs.1,p.P383A	protein_coding	uc021wxs.1	nonsynonymous SNV	exon1	c.C1147G	p.P383A	KARTTRKGQKNRPETVGQKRKRAEE	KARTTRKGQKNRAETVGQKRKRAEE	6.0	7.0	-	-	4268_3:49200495-49200495 G>C_KARTTRKGQKNRAETVGQKRKRAEE
19:17397488-17397501 TGTGTGTGTGTGTT>-	0.0	4268	COLON	-	-	-	-	ANKLE1	NM_001278444,p.C640fs|ENST00000598347,p.C586fs|uc010xpn.1,p.C640fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010xpn.1	frameshift deletion	exon8	c.1920_1933del	p.C640fs	RRGVCVCVCVCVCVCVCLCVCVCV	RRGVCVCVCVCVCVCVCVCV	2.0	10.0	unscreened	-	4268_19:17397488-17397501 TGTGTGTGTGTGTT>-_RRGVCVCVCVCVCVCVCVCV
1:152190656-152190656 C>A	0.0	4268	COLON	-	-	-	-	HRNR	NM_001009931,p.R1150L|ENST00000368801,p.R1150L|uc001ezt.2,p.R1150L	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G3449T	p.R1150L	SPSYGRHGSGSGRSSSSGQHGSGLG	SPSYGRHGSGSGLSSSSGQHGSGLG	1.0	6.0	-	-	4268_1:152190656-152190656 C>A_SPSYGRHGSGSGLSSSSGQHGSGLG
X:7811725-7811725 G>A	0.0	4268	COLON	-	-	-	-	VCX	ENST00000381059,p.E97K|NM_013452,p.E97K|ENST00000341408,p.E97K|uc004crz.3,p.E97K	protein_coding	uc004crz.3	nonsynonymous SNV	exon3	c.G289A	p.E97K	PQHELPPEEPVSEGTQHDPLSQEAE	PQHELPPEEPVSKGTQHDPLSQEAE	3.0	10.0	-	-	4268_X:7811725-7811725 G>A_PQHELPPEEPVSKGTQHDPLSQEAE
22:26270359-26270359 G>A	0.0	4268	COLON	-	-	-	-	MYO18B	ENST00000335473,p.R1353H|NM_032608,p.R1353H|uc011aka.1,p.R507H|uc003abz.1,p.R1353H|uc003aca.1,p.R1234H|uc010guy.1,p.R1235H|uc010guz.1,p.R1234H|ENST00000536101,p.R1353H|ENST00000407587,p.R1354H|uc011akb.1,p.R866H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akb.1	nonsynonymous SNV	exon19	c.G2597A	p.R866H	VLFQAACKGFLSRQEFKKLKIRRLA	VLFQAACKGFLSHQEFKKLKIRRLA	2.0	5.0	-	-	4268_22:26270359-26270359 G>A_VLFQAACKGFLSHQEFKKLKIRRLA
7:84628896-84628896 C>T	0.0	4268	COLON	-	-	-	-	SEMA3D	uc010led.3,p.E732K|uc003uib.3,p.E371K|NM_152754,p.E732K|ENST00000284136,p.E732K|uc003uic.3,p.E732K	retained_intron, protein_coding, processed_transcript	uc010led.3	nonsynonymous SNV	exon18	c.G2194A	p.E732K	LSSPNFSLDQYCEQMWHREKRRQRN	LSSPNFSLDQYCKQMWHREKRRQRN	5.0	4.0	-	-	4268_7:84628896-84628896 C>T_LSSPNFSLDQYCKQMWHREKRRQRN
7:103368613-103368613 G>A	0.0	4268	COLON	-	-	-	-	RELN	NM_173054,p.A233V|uc022ajq.1,p.A233V|NM_005045,p.A233V|ENST00000343529,p.A233V|uc022ajr.1,p.A233V|uc010liz.3,p.A233V|ENST00000424685,p.A233V|ENST00000428762,p.A233V	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon7	c.C698T	p.A233V	ECNNCETGEQCGAIMHGNAVTFCEP	ECNNCETGEQCGVIMHGNAVTFCEP	5.0	5.0	-	-	4268_7:103368613-103368613 G>A_ECNNCETGEQCGVIMHGNAVTFCEP
8:72975173-72975173 T>C	0.0	4268	COLON	-	-	-	-	TRPA1	ENST00000262209,p.E223G|uc003xza.3,p.E223G|ENST00000523582,p.E75G|NM_007332,p.E223G	retained_intron, protein_coding, processed_transcript	uc003xza.3	nonsynonymous SNV	exon6	c.A668G	p.E223G	KECMEIILRFGEEHGYSRQLHINFM	KECMEIILRFGEGHGYSRQLHINFM	4.0	9.0	-	-	4268_8:72975173-72975173 T>C_KECMEIILRFGEGHGYSRQLHINFM
10:13693924-13693924 T>G	1.0	4268	COLON	-	-	-	-	FRMD4A	uc009xjf.1,p.H1034P|uc001ims.3,p.H1034P|ENST00000357447,p.H1034P|ENST00000378503,p.H1034P|ENST00000358621,p.H1019P|NM_018027,p.H1034P	protein_coding, processed_transcript	uc009xjf.1	nonsynonymous SNV	exon24	c.A3101C	p.H1034P	NSPILDGSESPPHQSTDE	NSPILDGSESPPPQSTDE	6.0	8.0	-	-	4268_10:13693924-13693924 T>G_NSPILDGSESPPPQSTDE
12:48920301-48920301 A>G	0.0	4268	COLON	-	-	-	-	OR8S1	uc010slu.2,p.K296R|NM_001005203,p.K296R|ENST00000310194,p.K296R	protein_coding, processed_transcript	uc010slu.2	nonsynonymous SNV	exon1	c.A887G	p.K296R	NSLIYSLKNKEVKGERSLRDSSHLP	NSLIYSLKNKEVRGERSLRDSSHLP	1.0	1.0	-	-	4268_12:48920301-48920301 A>G_NSLIYSLKNKEVRGERSLRDSSHLP
8:143961228-143961228 A>C	0.0	4268	COLON	-	-	-	-	CYP11B1	uc003yxi.3,p.M1R|uc010mey.3,p.M1R|ENST00000292427,p.M1R|NM_000497,p.M1R|ENST00000377675,p.M1R|ENST00000517471,p.M1R|NM_001026213,p.M1R|uc003yxj.3,p.M1R	retained_intron, protein_coding	uc010mey.3	nonsynonymous SNV	exon1	c.T2G	p.M1R	MALRAKAEVCMAV	RALRAKAEVCMAV	1.0	1.0	unscreened	-	4268_8:143961228-143961228 A>C_RALRAKAEVCMAV
5:140536697-140536697 C>T	0.0	4268	COLON	-	-	-	-	PCDHB17	uc003lis.3,p.P373L|ENST00000539533,p.P374L	protein_coding	uc003lis.3	nonsynonymous SNV	exon1	c.C1118T	p.P373L	PETVVAVFGISDPDSGNNGKMMCSI	PETVVAVFGISDLDSGNNGKMMCSI	3.0	1.0	unscreened	-	4268_5:140536697-140536697 C>T_PETVVAVFGISDLDSGNNGKMMCSI
12:128899277-128899277 T>C	0.0	4268	COLON	-	-	-	-	TMEM132C	NM_001136103,p.V29A|ENST00000435159,p.V29A|uc021rgn.1,p.V29A	protein_coding	uc021rgn.1	nonsynonymous SNV	exon2	c.T86C	p.V29A	ALSLLLGALLGKVIEGHGVTDNIQR	ALSLLLGALLGKAIEGHGVTDNIQR	2.0	1.0	-	-	4268_12:128899277-128899277 T>C_ALSLLLGALLGKAIEGHGVTDNIQR
12:53074020-53074020 C>T	0.0	4268	COLON	0.0023	-	-	-	KRT1	uc001sav.1,p.R38H|ENST00000252244,p.R38H|NM_006121,p.R38H|uc001sau.1,p.R38H	retained_intron, protein_coding	uc001sav.1	nonsynonymous SNV	exon1	c.G113A	p.R38H	NYQRRTTSSSTRRSGGGGGRFSSCG	NYQRRTTSSSTRHSGGGGGRFSSCG	4.0	2.0	-	-	4268_12:53074020-53074020 C>T_NYQRRTTSSSTRHSGGGGGRFSSCG
1:206944257-206944257 G>A	0.0	4268	COLON	-	-	ID=COSM209673;OCCURENCE=1(large_intestine),1(prostate),1(endometrium)	-	IL10	uc001hen.1,p.R125C|ENST00000423557,p.R125C|NM_000572,p.R125C	retained_intron, protein_coding, processed_transcript	uc001hen.1	nonsynonymous SNV	exon3	c.C373T	p.R125C	GENLKTLRLRLRRCHRFLPCENKSK	GENLKTLRLRLRCCHRFLPCENKSK	4.0	5.0	-	-	4268_1:206944257-206944257 G>A_GENLKTLRLRLRCCHRFLPCENKSK
3:4767263-4767263 G>A	0.0	4268	COLON	-	-	-	-	ITPR1	ENST00000354582,p.E1724K	retained_intron, protein_coding, processed_transcript	ENST00000354582	nonsynonymous SNV	exon41	c.G5170A	p.E1724K	ELPPAPDSENATEKGEALRQVLVNR	ELPPAPDSENATKKGEALRQVLVNR	7.0	6.0	-	-	4268_3:4767263-4767263 G>A_ELPPAPDSENATKKGEALRQVLVNR
4:81188235-81188235 G>A	0.0	4268	COLON	-	-	-	-	FGF5	uc003hme.3,p.R86H|NM_033143,p.R86H|ENST00000312465,p.R86H|ENST00000507780,p.R47H|ENST00000456523,p.R86H|NM_004464,p.R86H|uc003hmd.3,p.R86H	protein_coding, processed_transcript, nonsense_mediated_decay	uc003hme.3	nonsynonymous SNV	exon1	c.G257A	p.R86H	LEQSSFQWSPSGRRTGSLYCRVGIG	LEQSSFQWSPSGHRTGSLYCRVGIG	1.0	8.0	-	-	4268_4:81188235-81188235 G>A_LEQSSFQWSPSGHRTGSLYCRVGIG
2:179615314-179615314 C>T	0.0	4268	COLON	-	-	ID=COSM3724029;OCCURENCE=1(upper_aerodigestive_tract)	-	TTN	uc002unb.3,p.R3938H|ENST00000360870,p.R3938H|NM_133379,p.R3938H	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.G11813A	p.R3938H	ENMRFFENSFRKRPQRCPPSFLQEI	ENMRFFENSFRKHPQRCPPSFLQEI	5.0	3.0	-	-	4268_2:179615314-179615314 C>T_ENMRFFENSFRKHPQRCPPSFLQEI
22:37964409-37964429 CAGCGCCTGCTGCAAACCCCT>-	1.0	4268	COLON	0.39	rs200195385	ID=COSM298066;OCCURENCE=4(upper_aerodigestive_tract),1(haematopoietic_and_lymphoid_tissue),1(endometrium),1(liver),6(large_intestine),2(skin),3(breast)	-	CDC42EP1	NM_152243,p.253_260del|uc003asz.4,p.253_260del|ENST00000249014,p.253_260del	protein_coding	uc003asz.4	nonframeshift deletion	exon3	c.758_778del	p.253_260del	PAANPPATTANPPAPAANPSAPAAT	PAANPPATTANPPAPAATPTGPAAN	5.0	9.0	unscreened	-	4268_22:37964409-37964429 CAGCGCCTGCTGCAAACCCCT>-_PAANPPATTANPPAPAATPTGPAAN
1:158592846-158592846 C>T	0.0	4268	COLON	-	-	ID=COSM529575;OCCURENCE=1(large_intestine),1(lung)	-	SPTA1	ENST00000368147,p.R2013H|ENST00000368148,p.R2016H|uc001fst.1,p.R2016H|NM_003126,p.R2016H	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon43	c.G6047A	p.R2016H	KAIEERYAALLKRWEQLLEASAVHR	KAIEERYAALLKHWEQLLEASAVHR	1.0	6.0	-	-	4268_1:158592846-158592846 C>T_KAIEERYAALLKHWEQLLEASAVHR
10:125601962-125601962 C>T	0.0	4268	COLON	-	-	-	-	CPXM2	NM_198148,p.A186T|ENST00000241305,p.A186T|uc001lhk.1,p.A186T	protein_coding, processed_transcript	uc001lhk.1	nonsynonymous SNV	exon4	c.G556A	p.A186T	INENDFYDGAWCAGRNDLQQWIEVD	INENDFYDGAWCTGRNDLQQWIEVD	6.0	3.0	-	-	4268_10:125601962-125601962 C>T_INENDFYDGAWCTGRNDLQQWIEVD
6:40399669-40399669 C>T	0.0	4268	COLON	-	-	-	-	LRFN2	NM_020737,p.R395H|ENST00000338305,p.R395H|uc003oph.1,p.R395H	protein_coding	uc003oph.1	nonsynonymous SNV	exon2	c.G1184A	p.R395H	SNSTSRTAPPKSRLSDITGSSKTSR	SNSTSRTAPPKSHLSDITGSSKTSR	1.0	5.0	-	-	4268_6:40399669-40399669 C>T_SNSTSRTAPPKSHLSDITGSSKTSR
22:26688840-26688840 G>A	0.0	4268	COLON	0.01	-	-	-	SEZ6L	NM_021115,p.R188Q|uc011akc.2,p.R188Q|uc003acc.3,p.R188Q|uc003acd.3,p.R188Q|uc011akd.2,p.R188Q|NM_001184773,p.R188Q|ENST00000529632,p.R188Q|ENST00000404234,p.R188Q|ENST00000343706,p.R188Q|NM_001184777,p.R188Q|NM_001184774,p.R188Q|NM_001184776,p.R188Q|ENST00000248933,p.R188Q|uc003ace.3,p.R188Q|uc003acb.3,p.R188Q|NM_001184775,p.R188Q|ENST00000360929,p.R188Q	retained_intron, protein_coding, processed_transcript	uc011akd.2	nonsynonymous SNV	exon2	c.G563A	p.R188Q	SEEASEVPLWLDRKESAVPTTPAPL	SEEASEVPLWLDQKESAVPTTPAPL	2.0	4.0	-	-	4268_22:26688840-26688840 G>A_SEEASEVPLWLDQKESAVPTTPAPL
15:26026198-26026198 G>A	0.0	4268	COLON	-	-	ID=COSM1678307;OCCURENCE=1(large_intestine)	-	ATP10A	uc010ayu.3,p.R208W|ENST00000555815,p.R208W|ENST00000356865,p.R208W|NM_024490,p.R208W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ayu.3	nonsynonymous SNV	exon2	c.C622T	p.R208W	ETANLDGETNLKRRQVVRGFSELVS	ETANLDGETNLKWRQVVRGFSELVS	5.0	6.0	-	-	4268_15:26026198-26026198 G>A_ETANLDGETNLKWRQVVRGFSELVS
X:51150192-51150192 A>C	0.0	4268	COLON	-	-	-	-	CXorf67	NM_203407,p.E108D|ENST00000342995,p.E108D	protein_coding	NM_203407	nonsynonymous SNV	exon1	c.A324C	p.E108D	RHSDRQDCRSPHEVFGCVVPEGGSQ	RHSDRQDCRSPHDVFGCVVPEGGSQ	1.0	3.0	-	-	4268_X:51150192-51150192 A>C_RHSDRQDCRSPHDVFGCVVPEGGSQ
19:35941517-35941517 C>T	0.0	4268	COLON	-	-	ID=COSM3404127;OCCURENCE=1(central_nervous_system)	-	FFAR2	ENST00000599180,p.R301C|uc002nzg.2,p.R301C|NM_005306,p.R301C|uc010eea.3,p.R301C|ENST00000246549,p.R301C	protein_coding, processed_transcript	uc010eea.3	nonsynonymous SNV	exon1	c.C901T	p.R301C	QVLRNQGSSLLGRRGKDTAEGTNED	QVLRNQGSSLLGCRGKDTAEGTNED	2.0	5.0	-	-	4268_19:35941517-35941517 C>T_QVLRNQGSSLLGCRGKDTAEGTNED
11:85396086-85396086 C>G	0.0	4268	COLON	-	-	-	-	CCDC89	ENST00000316398,p.R363T|NM_152723,p.R363T|uc001pau.1,p.R363T	protein_coding	uc001pau.1	nonsynonymous SNV	exon1	c.G1088C	p.R363T	FKKHSLDLLSKERELNGKLRHLSP	FKKHSLDLLSKETELNGKLRHLSP	3.0	7.0	-	-	4268_11:85396086-85396086 C>G_FKKHSLDLLSKETELNGKLRHLSP
10:49658553-49658553 C>T	0.0	4268	COLON	-	-	-	-	ARHGAP22	ENST00000435790,p.R546H|ENST00000417912,p.R556H|NM_021226,p.R540H|NM_001256025,p.R546H|ENST00000477708,p.R373H|uc001jgt.4,p.R540H|uc001jgs.4,p.R450H|ENST00000374170,p.R381H|ENST00000249601,p.R540H|uc010qgm.3,p.R546H|uc010qgl.3,p.R497H|uc001jgr.4,p.R257H|NM_001256024,p.R556H|uc001jgv.4,p.R238H|NM_001256026,p.R450H|ENST00000417247,p.R450H|ENST00000374172,p.R431H|uc001jgu.4,p.R556H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qgm.3	nonsynonymous SNV	exon9	c.G1637A	p.R546H	SCTACRASDSSARSSLHTDWALEPS	SCTACRASDSSAHSSLHTDWALEPS	5.0	4.0	-	-	4268_10:49658553-49658553 C>T_SCTACRASDSSAHSSLHTDWALEPS
15:90321497-90321497 C>T	0.0	4268	COLON	-	-	-	-	MESP2	uc002bon.3,p.R376W|NM_001039958,p.R376W|uc010uqa.2,p.R78W|ENST00000341735,p.R376W|ENST00000560219,p.R78W	protein_coding, processed_transcript	uc010uqa.2	nonsynonymous SNV	exon3	c.C232T	p.R78W	LSEASPPQSSGLRFSGCPELWQEDL	LSEASPPQSSGLWFSGCPELWQEDL	2.0	7.0	-	-	4268_15:90321497-90321497 C>T_LSEASPPQSSGLWFSGCPELWQEDL
7:100647281-100647281 C>A	0.0	4268	COLON	-	-	-	-	MUC12	NM_001164462,p.D4479E|ENST00000536621,p.D4479E|uc003uxo.3,p.D4479E|ENST00000379442,p.D4622E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C13437A	p.D4479E	SSPGSTATTHFPDSSTTSGRSEEST	SSPGSTATTHFPESSTTSGRSEEST	1.0	3.0	unscreened	-	4268_7:100647281-100647281 C>A_SSPGSTATTHFPESSTTSGRSEEST
16:1536149-1536149 C>T	0.0	4268	COLON	0.0037	-	-	-	PTX4	uc010uvf.2,p.V405M|ENST00000293922,p.V405M|NM_001013658,p.V405M|ENST00000447419,p.V410M	protein_coding	uc010uvf.2	nonsynonymous SNV	exon3	c.G1213A	p.V405M	GGSLVLGQEQDSVGGGFDSSEAFVG	GGSLVLGQEQDSMGGGFDSSEAFVG	1.0	5.0	-	-	4268_16:1536149-1536149 C>T_GGSLVLGQEQDSMGGGFDSSEAFVG
3:27233635-27233635 G>A	1.0	4270	PANCREATIC	-	-	-	-	LRRC3B,NEK10	ENST00000357467,p.S194F|ENST00000383770,p.S109F|uc003cds.1,p.S194F|ENST00000383771,p.S109F|uc010hfk.3,p.S109F|uc010hfj.3,p.S109F|ENST00000295720,p.S109F|ENST00000429845,p.S797F	retained_intron, protein_coding, processed_transcript	uc010hfk.3	nonsynonymous SNV	exon5	c.C326T	p.S109F	DVMMKYLDNLSTSQLSLEKKLERER	DVMMKYLDNLSTFQLSLEKKLERER	6.0	9.0	-	-	4270_3:27233635-27233635 G>A_DVMMKYLDNLSTFQLSLEKKLERER
10:104416597-104416597 C>T	1.0	4270	PANCREATIC	-	-	-	-	TRIM8	ENST00000302424,p.T381M|NM_030912,p.T381M|uc001kvz.2,p.T381M	protein_coding, processed_transcript	uc001kvz.2	nonsynonymous SNV	exon6	c.C1142T	p.T381M	VSSSGAEKRKHSTAFPEASFLETSS	VSSSGAEKRKHSMAFPEASFLETSS	9.0	10.0	-	-	4270_10:104416597-104416597 C>T_VSSSGAEKRKHSMAFPEASFLETSS
11:95546186-95546186 C>A	1.0	4270	PANCREATIC	-	-	-	-	CEP57	ENST00000544522,p.S89Y|uc010ruh.2,p.S89Y|NM_001243777,p.S98Y|ENST00000541150,p.S89Y|ENST00000538658,p.S98Y|ENST00000325486,p.S98Y|NM_014679,p.S98Y|uc001pfo.2,p.S98Y|ENST00000325542,p.S98Y|uc001pfp.2,p.S98Y|ENST00000537677,p.S71Y|uc001pfq.2,p.S98Y|NM_001243776,p.S89Y|ENST00000541365,p.S71Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ruh.2	nonsynonymous SNV	exon4	c.C266A	p.S89Y	ERIQAEESVKTLSRETIEYKKVLDE	ERIQAEESVKTLYRETIEYKKVLDE	10.0	4.0	-	-	4270_11:95546186-95546186 C>A_ERIQAEESVKTLYRETIEYKKVLDE
15:99500555-99500555 G>A	1.0	4270	PANCREATIC	0.0005	-	-	-	IGF1R	uc002bul.3,p.G1330S|ENST00000558762,p.G1329S|NM_001291858,p.G1329S|ENST00000268035,p.G1330S|NM_000875,p.G1330S|uc010bon.3,p.G1329S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bon.3	nonsynonymous SNV	exon21	c.G3985A	p.G1329S	DRHSGHKAENGPGPGVLVLRASFDE	DRHSGHKAENGPSPGVLVLRASFDE	10.0	2.0	-	-	4270_15:99500555-99500555 G>A_DRHSGHKAENGPSPGVLVLRASFDE
7:98634742-98634742 T>C	1.0	4270	PANCREATIC	-	-	-	-	SMURF1	uc003upv.2,p.N586S|NM_181349,p.N586S|uc003upt.3,p.N586S|ENST00000361125,p.N612S|NM_020429,p.N612S|NM_001199847,p.N586S|ENST00000361368,p.N586S|uc003upu.2,p.N612S	protein_coding, processed_transcript	uc003upv.2	nonsynonymous SNV	exon15	c.A1757G	p.N586S	IEAQFLALQKGFNELIPQHLLKPFD	IEAQFLALQKGFSELIPQHLLKPFD	8.0	4.0	-	-	4270_7:98634742-98634742 T>C_IEAQFLALQKGFSELIPQHLLKPFD
12:25398285-25398285 C>G	1.0	4270	PANCREATIC	-	-	ID=COSM518,COSM1157797;OCCURENCE=2(cervix),4(testis),13(haematopoietic_and_lymphoid_tissue),2(gastrointestinal_tract_(site_indeterminate)),10(thyroid),1(peritoneum),86(lung),2(upper_aerodigestive_tract),4(bone),1(oesophagus),2(central_nervous_system),1(stomach),5(urinary_tract),591(pancreas),1(prostate),24(biliary_tract),223(large_intestine),3(skin),5(breast),2(small_intestine),3(endometrium),23(ovary)	1	KRAS	uc001rgq.1,p.G12R|uc001rgp.1,p.G12R|ENST00000311936,p.G12R|ENST00000256078,p.G12R|NM_004985,p.G12R|NM_033360,p.G12R|ENST00000557334,p.G12R|ENST00000556131,p.G12R	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G34C	p.G12R	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGARGVGKSALTIQLI	7.0	9.0	-	-	4270_12:25398285-25398285 C>G_MTEYKLVVVGARGVGKSALTIQLI
4:186380165-186380165 C>G	1.0	4270	PANCREATIC	-	-	-	-	CCDC110	uc003ixv.4,p.E489Q|NM_001145411,p.E489Q|ENST00000510617,p.E526Q|ENST00000393540,p.E489Q|NM_152775,p.E526Q|uc011ckt.1,p.E526Q|uc003ixu.4,p.E526Q|ENST00000307588,p.E526Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ckt.1	nonsynonymous SNV	exon6	c.G1576C	p.E526Q	KYNVLQGQNKTLEEKNIQLSLEKQQ	KYNVLQGQNKTLQEKNIQLSLEKQQ	6.0	3.0	-	-	4270_4:186380165-186380165 C>G_KYNVLQGQNKTLQEKNIQLSLEKQQ
7:100639540-100639540 C>T	1.0	4270	PANCREATIC	-	rs56147919	-	-	MUC12	ENST00000536621,p.T1899M|ENST00000379442,p.T2042M|NM_001164462,p.T1899M|uc003uxo.3,p.T1899M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C5696T	p.T1899M	SMETTALPGSTTTPGLSEKSTTFHS	SMETTALPGSTTMPGLSEKSTTFHS	7.0	4.0	unscreened	-	4270_7:100639540-100639540 C>T_SMETTALPGSTTMPGLSEKSTTFHS
7:100683156-100683156 C>T	1.0	4270	PANCREATIC	0.04	rs79046921	ID=COSM3358068;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	MUC17	NM_001040105,p.T2820M|ENST00000306151,p.T2820M|ENST00000379439,p.T2820M|uc003uxp.1,p.T2820M	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C8459T	p.T2820M	TSTPLTSMPVNHTPVASSEAGTLST	TSTPLTSMPVNHMPVASSEAGTLST	9.0	7.0	-	-	4270_7:100683156-100683156 C>T_TSTPLTSMPVNHMPVASSEAGTLST
1:12322009-12322009 A>T	1.0	4270	PANCREATIC	-	-	-	-	VPS13D	uc001atw.3,p.Y489F|NM_018156,p.Y489F|NM_015378,p.Y489F|ENST00000356315,p.Y489F|uc001atv.3,p.Y489F|ENST00000358136,p.Y489F	protein_coding, processed_transcript	uc001atw.3	nonsynonymous SNV	exon13	c.A1466T	p.Y489F	FDPTADASCMNTYTKRDHVFAKLNL	FDPTADASCMNTFTKRDHVFAKLNL	9.0	6.0	-	-	4270_1:12322009-12322009 A>T_FDPTADASCMNTFTKRDHVFAKLNL
19:41071331-41071331 A>G	1.0	4270	PANCREATIC	-	-	-	-	SPTBN4	NM_020971,p.D1973G|ENST00000392025,p.D716G|uc002onz.3,p.D1973G|ENST00000598249,p.D1973G|uc010egx.3,p.D716G|ENST00000338932,p.D1973G|ENST00000352632,p.D1973G|uc002ony.3,p.D1973G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010egx.3	nonsynonymous SNV	exon16	c.A2147G	p.D716G	IASQIGAADKPRDVSSVEVLMNYHQ	IASQIGAADKPRGVSSVEVLMNYHQ	5.0	7.0	-	-	4270_19:41071331-41071331 A>G_IASQIGAADKPRGVSSVEVLMNYHQ
6:100006296-100006296 A>-	1.0	4270	PANCREATIC	-	-	-	2	CCNC	ENST00000482541,p.F141fs|uc003pqf.3,p.F141fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pqf.3	frameshift deletion	exon5	c.423delT	p.F141fs	LKKAPEYIDFFFFSL	LKKAPEYIDFFFLVY	9.0	3.0	-	-	4270_6:100006296-100006296 A>-_LKKAPEYIDFFFLVY
22:43538994-43538994 G>T	1.0	4270	PANCREATIC	-	-	-	-	MCAT	ENST00000290429,p.Q121K|uc003bdm.1,p.Q121K|ENST00000327555,p.Q121K|NM_014507,p.Q121K|NM_173467,p.Q121K|uc003bdl.1,p.Q121K	protein_coding, processed_transcript	uc003bdm.1	nonsynonymous SNV	exon1	c.C361A	p.Q121K	GPQETLDRTVHCQPAIFVASLAAVE	GPQETLDRTVHCKPAIFVASLAAVE	7.0	2.0	CD8	-	4270_22:43538994-43538994 G>T_GPQETLDRTVHCKPAIFVASLAAVE
15:49584620-49584620 G>T	1.0	4270	PANCREATIC	-	-	-	-	GALK2	ENST00000560031,p.V285F|NM_001001556,p.V274F|uc001zxi.1,p.V274F|uc010ufc.1,p.V261F|uc010ufb.1,p.V261F|NM_001289030,p.V261F|ENST00000396509,p.V261F|uc001zxj.1,p.V285F|NM_001289031,p.V261F|NM_002044,p.V285F|ENST00000327171,p.V274F|ENST00000543495,p.V156F|ENST00000559454,p.V261F|ENST00000544523,p.V261F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ufc.1	nonsynonymous SNV	exon8	c.G781T	p.V261F	AKLGISLEEMLLVTEDALHPEPYNP	AKLGISLEEMLLFTEDALHPEPYNP	9.0	3.0	-	-	4270_15:49584620-49584620 G>T_AKLGISLEEMLLFTEDALHPEPYNP
19:7083132-7083132 A>T	1.0	4270	PANCREATIC	-	-	-	-	ZNF557	ENST00000439035,p.T217S|uc002mgb.3,p.T217S|ENST00000252840,p.T224S|NM_024341,p.T224S|uc002mgc.3,p.T224S|NM_001044388,p.T217S|ENST00000414706,p.T224S|uc002mga.3,p.T224S|NM_001044387,p.T224S	protein_coding	uc002mgc.3	nonsynonymous SNV	exon8	c.A670T	p.T224S	DCGKTFSSRSYLTVHKRIHNGEKPY	DCGKTFSSRSYLSVHKRIHNGEKPY	7.0	1.0	unscreened	-	4270_19:7083132-7083132 A>T_DCGKTFSSRSYLSVHKRIHNGEKPY
8:17400978-17400978 G>A	1.0	4270	PANCREATIC	0.01	-	-	-	SLC7A2	ENST00000494857,p.V44I|NM_001008539,p.V44I|uc011kyc.2,p.V44I|ENST00000004531,p.V84I|uc011kye.2,p.V84I|ENST00000522656,p.V44I|uc011kyd.2,p.V84I|ENST00000398090,p.V84I|ENST00000470360,p.V84I|NM_001164771,p.V84I|NM_003046,p.V84I	protein_coding	uc011kye.2	nonsynonymous SNV	exon2	c.G250A	p.V84I	RCLSTMDLIALGVGSTLGAGVYVLA	RCLSTMDLIALGIGSTLGAGVYVLA	7.0	10.0	-	-	4270_8:17400978-17400978 G>A_RCLSTMDLIALGIGSTLGAGVYVLA
22:44107425-44107426 AA>-	1.0	4270	PANCREATIC	-	-	-	-	EFCAB6	uc003bea.2,p.N317fs|uc010gzi.2,p.N168fs|uc003bdy.2,p.N320fs|NM_198856,p.N168fs|ENST00000396231,p.N168fs|ENST00000262726,p.N320fs|NM_022785,p.N320fs|uc003bdz.2,p.N168fs	retained_intron, protein_coding, processed_transcript	uc010gzi.2	frameshift deletion	exon8	c.504_505del	p.N168fs	AGDPCKGGYVSFNYLKIVLDTFVYQ	AGDPCKGGYVSFKSKDCPRHFCIPNTKKNFYPVNEKIWT	6.0	3.0	-	-	4270_22:44107425-44107426 AA>-_AGDPCKGGYVSFKSKDCPRHFCIPNTKKNFYPVNEKIWT
19:55698901-55698901 C>T	1.0	4270	PANCREATIC	-	-	ID=COSM1001418;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(endometrium)	-	PTPRH	uc010esv.3,p.R671H|NM_002842,p.R849H|NM_001161440,p.R671H|uc002qjq.3,p.R849H|ENST00000376350,p.R849H|ENST00000263434,p.R671H	protein_coding, processed_transcript	uc010esv.3	nonsynonymous SNV	exon12	c.G2012A	p.R671H	MVASASENNAKNRYRNVLPYDWSRV	MVASASENNAKNHYRNVLPYDWSRV	10.0	2.0	-	-	4270_19:55698901-55698901 C>T_MVASASENNAKNHYRNVLPYDWSRV
7:100681040-100681040 G>A	1.0	4270	PANCREATIC	-	-	-	-	MUC17	NM_001040105,p.A2115T|uc003uxp.1,p.A2115T|ENST00000379439,p.A2115T|ENST00000306151,p.A2115T	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G6343A	p.A2115T	LLTSIPLSTTPVASPEASTLSTTPV	LLTSIPLSTTPVTSPEASTLSTTPV	9.0	7.0	unscreened	-	4270_7:100681040-100681040 G>A_LLTSIPLSTTPVTSPEASTLSTTPV
1:151139474-151139474 C>T	1.0	4270	PANCREATIC	-	-	-	-	SCNM1,TNFAIP8L2-SCNM1	uc010pcs.2,p.R63C|NM_001204848,p.R28C|ENST00000368905,p.R63C|ENST00000368902,p.R28C|uc021oyk.1,p.R28C|uc001ewz.3,p.R63C|NM_024041,p.R63C|uc021oyn.1,p.R28C|NM_001204856,p.R28C|ENST00000602841,p.R28C	protein_coding, processed_transcript	uc021oyn.1	nonsynonymous SNV	exon3	c.C82T	p.R28C	PVLDTLAMLTAHRAGKKHLSSLQLF	PVLDTLAMLTAHCAGKKHLSSLQLF	9.0	9.0	-	-	4270_1:151139474-151139474 C>T_PVLDTLAMLTAHCAGKKHLSSLQLF
13:110839489-110839489 G>A	0.0	4270	PANCREATIC	-	-	-	-	COL4A1	NM_001845,p.S575L|ENST00000375820,p.S575L|uc001vqw.4,p.S575L	protein_coding, processed_transcript	uc001vqw.4	nonsynonymous SNV	exon25	c.C1724T	p.S575L	RDGHPGLPGPKGSPGSVGLKGERGP	RDGHPGLPGPKGLPGSVGLKGERGP	10.0	8.0	-	-	4270_13:110839489-110839489 G>A_RDGHPGLPGPKGLPGSVGLKGERGP
1:186099220-186099220 G>T	0.0	4270	PANCREATIC	-	-	-	-	HMCN1	NM_031935,p.V4343F|uc001grq.1,p.V4343F|ENST00000367492,p.V4343F|ENST00000271588,p.V4343F	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon84	c.G13027T	p.V4343F	ENSVGFVKAIGFVYVKEPPVFKGDY	ENSVGFVKAIGFFYVKEPPVFKGDY	9.0	7.0	-	-	4270_1:186099220-186099220 G>T_ENSVGFVKAIGFFYVKEPPVFKGDY
12:109017578-109017578 G>T	1.0	4270	PANCREATIC	-	-	-	-	SELPLG	NM_003006,p.T169K|uc031qjj.1,p.T169K|NM_001206609,p.T185K|ENST00000228463,p.T185K|ENST00000388962,p.T159K|uc010sxe.2,p.T185K|uc001tni.3,p.T169K|ENST00000550948,p.T169K|uc001tnh.4,p.T159K	protein_coding	uc031qjj.1	nonsynonymous SNV	exon1	c.C506A	p.T169K	TATEAQTTPLAATEAQTTPPAATEA	TATEAQTTPLAAKEAQTTPPAATEA	8.0	8.0	unscreened	-	4270_12:109017578-109017578 G>T_TATEAQTTPLAAKEAQTTPPAATEA
12:63964599-63964599 T>C	0.0	4270	PANCREATIC	-	-	ID=COSM1128502;OCCURENCE=2(liver),1(prostate)	-	DPY19L2	NM_173812,p.I647V|ENST00000324472,p.I647V|ENST00000413230,p.I94V|uc001srp.1,p.I647V|uc010sso.1,p.I94V	retained_intron, protein_coding, nonsense_mediated_decay	uc010sso.1	nonsynonymous SNV	exon4	c.A280G	p.I94V	AVFAGAMPTMASIKLSTLHPIVNHP	AVFAGAMPTMASVKLSTLHPIVNHP	7.0	4.0	-	-	4270_12:63964599-63964599 T>C_AVFAGAMPTMASVKLSTLHPIVNHP
21:44524456-44524456 G>A	1.0	4270	PANCREATIC	-	-	ID=COSM166866,COSM1142948;OCCURENCE=3(urinary_tract),3(liver),4(pancreas),3(endometrium),14(lung),36(haematopoietic_and_lymphoid_tissue),1(stomach)	1	U2AF1	uc010gpi.1,p.S34F|uc002zda.1,p.S34F|ENST00000380276,p.S34F|uc002zdc.1,p.S34F|NM_006758,p.S34F|NM_001025203,p.S34F|ENST00000291552,p.S34F|uc002zdb.1,p.S34F|ENST00000464750,p.S34F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010gpi.1	nonsynonymous SNV	exon2	c.C101T	p.S34F	FKIGACRHGDRCSRLHNKPTFSQTI	FKIGACRHGDRCFRLHNKPTFSQTI	10.0	7.0	-	-	4270_21:44524456-44524456 G>A_FKIGACRHGDRCFRLHNKPTFSQTI
22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	0.0	4270	PANCREATIC	-	-	-	1	LZTR1	ENST00000389355,p.197_198del|ENST00000215739,p.216_217del|NM_006767,p.216_217del|uc010gsr.1,p.87_88del|uc002ztn.3,p.175_176del|uc002zto.3,p.216_217del|uc011ahy.2,p.197_198del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahy.2	nonframeshift deletion	exon6	c.589_594del	p.197_198del	TIGLQDRELTCWEEVAQSGEIPPSC	TIGLQDRELTCWVAQSGEIPPSCCN	10.0	1.0	unscreened	-	4270_22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-_TIGLQDRELTCWVAQSGEIPPSCCN
1:28319919-28319919 T>A	1.0	4270	PANCREATIC	-	-	ID=COSM320192;OCCURENCE=1(lung)	-	EYA3	NM_001282560,p.N386I|NM_001282561,p.N386I|ENST00000373864,p.N275I|uc010ofs.2,p.N379I|uc001bpj.3,p.N386I|NM_001282562,p.N379I|ENST00000545175,p.N379I|uc010oft.2,p.N386I|ENST00000373863,p.N386I|NM_001990,p.N432I|uc001bpi.2,p.N432I|ENST00000540618,p.N386I|ENST00000373871,p.N432I|ENST00000436342,p.N306I	protein_coding, processed_transcript	uc010oft.2	nonsynonymous SNV	exon13	c.A1157T	p.N386I	RKVREIYDKHKSNVGGLLSPQRKEA	RKVREIYDKHKSIVGGLLSPQRKEA	9.0	2.0	-	-	4270_1:28319919-28319919 T>A_RKVREIYDKHKSIVGGLLSPQRKEA
11:44129405-44129405 A>G	1.0	4270	PANCREATIC	-	-	-	1	EXT2	uc010rfo.2,p.H76R|NM_001178083,p.H48R|uc009ykt.3,p.H48R|NM_207122,p.H48R|ENST00000343631,p.H48R|ENST00000533608,p.H48R|ENST00000527014,p.H48R|uc001mya.3,p.H81R|ENST00000395673,p.H81R|NM_000401,p.H81R|uc001mxz.3,p.H48R|ENST00000358681,p.H48R	retained_intron, protein_coding, processed_transcript	uc010rfo.2	nonsynonymous SNV	exon2	c.A227G	p.H76R	GLIATGMFQFWPHSIESSNDWNVEK	GLIATGMFQFWPRSIESSNDWNVEK	9.0	4.0	-	-	4270_11:44129405-44129405 A>G_GLIATGMFQFWPRSIESSNDWNVEK
17:73910892-73910892 C>T	0.0	4270	PANCREATIC	-	-	-	-	FBF1	uc010wsp.2,p.R893H|uc002jqc.3,p.R902H|ENST00000389570,p.R903H|NM_001080542,p.R902H|uc010dgr.2,p.R213H|ENST00000586717,p.R903H|ENST00000319129,p.R902H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wsp.2	nonsynonymous SNV	exon23	c.G2678A	p.R893H	SAQQKLSKERAEREAERALQVDTQR	SAQQKLSKERAEHEAERALQVDTQR	7.0	2.0	-	-	4270_17:73910892-73910892 C>T_SAQQKLSKERAEHEAERALQVDTQR
7:94039047-94039047 G>A	0.0	4270	PANCREATIC	-	-	-	-	COL1A2	uc003ung.1,p.V317I|NM_000089,p.V317I|ENST00000297268,p.V317I	retained_intron, protein_coding	uc003ung.1	nonsynonymous SNV	exon19	c.G949A	p.V317I	LTGAKGAAGLPGVAGAPGLPGPRGI	LTGAKGAAGLPGIAGAPGLPGPRGI	10.0	6.0	-	-	4270_7:94039047-94039047 G>A_LTGAKGAAGLPGIAGAPGLPGPRGI
20:19565661-19565661 C>T	1.0	4270	PANCREATIC	-	-	-	-	SLC24A3	ENST00000328041,p.A157V|uc002wrl.3,p.A157V|NM_020689,p.A157V	protein_coding	uc002wrl.3	nonsynonymous SNV	exon5	c.C470T	p.A157V	LSEDVAGATFMAAGSSAPELFTSVI	LSEDVAGATFMAVGSSAPELFTSVI	6.0	2.0	-	-	4270_20:19565661-19565661 C>T_LSEDVAGATFMAVGSSAPELFTSVI
4:74964580-74964580 G>C	1.0	4270	PANCREATIC	-	-	-	-	CXCL2	uc003hhm.4,p.L54V|NM_002089,p.L54V|ENST00000508487,p.L54V	retained_intron, protein_coding, processed_transcript	uc003hhm.4	nonsynonymous SNV	exon2	c.C160G	p.L54V	RCQCLQTLQGIHLKNIQSVKVKSPG	RCQCLQTLQGIHVKNIQSVKVKSPG	8.0	4.0	-	-	4270_4:74964580-74964580 G>C_RCQCLQTLQGIHVKNIQSVKVKSPG
7:105135679-105135679 G>T	1.0	4270	PANCREATIC	-	-	-	-	PUS7	ENST00000356362,p.P251Q|uc003vcz.1,p.P251Q|NM_019042,p.P251Q|ENST00000481939,p.P251Q|ENST00000469408,p.P251Q|uc003vcx.3,p.P251Q|uc003vcy.3,p.P251Q	retained_intron, protein_coding, nonsense_mediated_decay	uc003vcz.1	nonsynonymous SNV	exon6	c.C752A	p.P251Q	KKALANPRKHSWPKSRGSYCHFVLY	KKALANPRKHSWQKSRGSYCHFVLY	8.0	1.0	-	-	4270_7:105135679-105135679 G>T_KKALANPRKHSWQKSRGSYCHFVLY
5:150946029-150946029 G>C	0.0	4270	PANCREATIC	-	-	-	-	FAT2	ENST00000261800,p.P822A|uc003lue.4,p.P822A|uc010jhx.1,p.P822A|NM_001447,p.P822A	protein_coding	uc010jhx.1	nonsynonymous SNV	exon1	c.C2464G	p.P822A	VKDWNDNAPRFPPGGYQLTISEDTE	VKDWNDNAPRFPAGGYQLTISEDTE	4.0	9.0	-	-	4270_5:150946029-150946029 G>C_VKDWNDNAPRFPAGGYQLTISEDTE
11:117166049-117166049 C>T	1.0	4270	PANCREATIC	-	-	ID=COSM1351511;OCCURENCE=1(large_intestine)	-	BACE1	uc001pra.1,p.R122Q	retained_intron, protein_coding, processed_transcript	uc001pra.1	nonsynonymous SNV	exon3	c.G365A	p.R122Q	HRYYQRQLSSTYRDLRKA	HRYYQRQLSSTYQDLRKA	7.0	6.0	unscreened	-	4270_11:117166049-117166049 C>T_HRYYQRQLSSTYQDLRKA
12:121622550-121622550 G>A	0.0	4270	PANCREATIC	0.0032	-	-	-	P2RX7	NM_002562,p.R578Q|uc001tzm.3,p.R578Q	retained_intron, protein_coding, nonsense_mediated_decay	uc001tzm.3	nonsynonymous SNV	exon13	c.G1733A	p.R578Q	FAILPSCCRWRIRKEFPKSEGQYSG	FAILPSCCRWRIQKEFPKSEGQYSG	9.0	10.0	-	-	4270_12:121622550-121622550 G>A_FAILPSCCRWRIQKEFPKSEGQYSG
12:121622550-121622550 G>A	0.0	4270	PANCREATIC	0.0032	-	-	-	P2RX7	ENST00000535250,p.R488Q|ENST00000328963,p.R408Q|uc001tzq.3,p.R408Q|uc001tzn.3,p.R488Q|uc001tzp.3,p.R289Q|ENST00000546057,p.R578Q|ENST00000541446,p.R289Q	retained_intron, protein_coding, nonsense_mediated_decay	uc001tzq.3	nonsynonymous SNV	exon12	c.G1223A	p.R408Q	FANLPSCCRWRIRKEFPKSEGQYSG	FANLPSCCRWRIQKEFPKSEGQYSG	9.0	10.0	unscreened	-	4270_12:121622550-121622550 G>A_FANLPSCCRWRIQKEFPKSEGQYSG
22:44107425-44107426 AA>-	1.0	4270	PANCREATIC	-	-	-	-	EFCAB6	uc011aqa.2,p.N214fs|ENST00000358439,p.N214fs	retained_intron, protein_coding, processed_transcript	uc011aqa.2	frameshift deletion	exon8	c.642_643del	p.N214fs	AGDPCKGGYVSFNYLKIVLDTFVYQ	AGDPCKGGYVSFKSKDCPRHFCIPNTKKNFYPVNEKKPDGPI	6.0	3.0	-	-	4270_22:44107425-44107426 AA>-_AGDPCKGGYVSFKSKDCPRHFCIPNTKKNFYPVNEKKPDGPI
3:171965485-171965485 C>A	1.0	4270	PANCREATIC	-	-	-	-	FNDC3B	uc003fhy.3,p.P143T|ENST00000415807,p.P143T|ENST00000416957,p.P143T|uc003fhz.4,p.P143T|ENST00000443501,p.P116T|ENST00000336824,p.P143T|uc003fia.3,p.P74T|NM_001135095,p.P143T|NM_022763,p.P143T	retained_intron, protein_coding, processed_transcript	uc003fia.3	nonsynonymous SNV	exon3	c.C220A	p.P74T	PHFIHNSHTAYYPPVTGPGDMPPQF	PHFIHNSHTAYYTPVTGPGDMPPQF	10.0	5.0	-	-	4270_3:171965485-171965485 C>A_PHFIHNSHTAYYTPVTGPGDMPPQF
18:13048894-13048894 A>C	1.0	4270	PANCREATIC	-	-	-	-	CEP192	uc010xad.2,p.K227Q|ENST00000506447,p.K702Q|ENST00000430049,p.K227Q|ENST00000589596,p.K443Q|uc010xac.2,p.K702Q|NM_032142,p.K702Q|uc002krs.1,p.K443Q|ENST00000510237,p.K302Q|ENST00000325971,p.K106Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xad.2	nonsynonymous SNV	exon6	c.A679C	p.K227Q	DTFFMSNKPQRYKDKLPDSGDSMLR	DTFFMSNKPQRYQDKLPDSGDSMLR	8.0	8.0	-	-	4270_18:13048894-13048894 A>C_DTFFMSNKPQRYQDKLPDSGDSMLR
16:49671793-49671793 C>T	0.0	4270	PANCREATIC	-	-	ID=COSM1316078,COSM1316079;OCCURENCE=2(pancreas),1(haematopoietic_and_lymphoid_tissue)	-	ZNF423	ENST00000562871,p.V364M|ENST00000563137,p.V364M|ENST00000561648,p.V424M|NM_015069,p.V424M|ENST00000562520,p.V364M|uc031qwe.1,p.V364M|ENST00000567169,p.V307M|ENST00000262383,p.V424M|uc031qwd.1,p.V424M|ENST00000535559,p.V307M|uc010vgn.3,p.V307M|NM_001271620,p.V364M	retained_intron, protein_coding	uc031qwe.1	nonsynonymous SNV	exon4	c.G1090A	p.V364M	PYCSKRDFNSLAVLEIHLKTIHADK	PYCSKRDFNSLAMLEIHLKTIHADK	6.0	6.0	-	-	4270_16:49671793-49671793 C>T_PYCSKRDFNSLAMLEIHLKTIHADK
9:33960838-33960838 C>A	0.0	4270	PANCREATIC	-	-	-	-	UBAP2	ENST00000418786,p.D209Y|ENST00000412543,p.D209Y|uc011loc.1,p.D171Y|NM_018449,p.D262Y|uc011log.1,p.D208Y|uc003ztr.2,p.D134Y|uc011lof.1,p.D187Y|ENST00000360802,p.D262Y|uc003ztq.1,p.D262Y|ENST00000379238,p.D262Y|ENST00000449054,p.D262Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc011log.1	nonsynonymous SNV	exon8	c.G622T	p.D208Y	AWKNSVEEWTTEDWTEDLSETKVFT	AWKNSVEEWTTEYWTEDLSETKVFT	9.0	5.0	-	-	4270_9:33960838-33960838 C>A_AWKNSVEEWTTEYWTEDLSETKVFT
17:7577094-7577094 G>A	1.0	4270	PANCREATIC	-	-	ID=COSM3378339,COSM99925,COSM1636702,COSM10704;OCCURENCE=17(ovary),3(endometrium),1(salivary_gland),9(skin),22(breast),2(prostate),148(large_intestine),4(biliary_tract),12(urinary_tract),5(liver),17(pancreas),1(thymus),36(central_nervous_system),34(stomach),4(vulva),55(oesophagus),37(upper_aerodigestive_tract),2(bone),2(thyroid),20(lung),2(peritoneum),7(haematopoietic_and_lymphoid_tissue)	1	TP53	ENST00000445888,p.R282W|NM_001276697,p.R123W|NM_001276696,p.R243W|NM_001276760,p.R243W|uc002gih.3,p.R282W|NM_001276699,p.R123W|ENST00000359597,p.R282W|ENST00000269305,p.R282W|uc002gij.3,p.R243W|uc031qyq.1,p.R243W|NM_001126116,p.R150W|uc002gii.2,p.R123W|uc010cnf.2,p.R123W|NM_001276695,p.R243W|NM_001126114,p.R282W|NM_001126113,p.R282W|NM_000546,p.R282W|ENST00000509690,p.R150W|NM_001276698,p.R123W|NM_001276761,p.R243W|NM_001126112,p.R282W|uc010cng.2,p.R123W|ENST00000455263,p.R282W|ENST00000420246,p.R282W|NM_001126118,p.R243W|NM_001126117,p.R150W|NM_001126115,p.R150W	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon7	c.C727T	p.R243W	FEVRVCACPGRDRRTEEENLRKKGE	FEVRVCACPGRDWRTEEENLRKKGE	9.0	9.0	-	-	4270_17:7577094-7577094 G>A_FEVRVCACPGRDWRTEEENLRKKGE
19:58601483-58601483 C>T	0.0	4270	PANCREATIC	-	-	ID=COSM1590350,COSM1002652;OCCURENCE=1(endometrium)	-	ZSCAN18	uc010yht.1,p.R107H|ENST00000601144,p.R51H|uc002qrh.2,p.R51H|ENST00000600897,p.R51H|ENST00000600404,p.R107H|uc002qrj.3,p.R51H|uc002qri.2,p.R51H|uc002qrl.2,p.R51H|NM_001145543,p.R51H|ENST00000600845,p.R51H|ENST00000240727,p.R51H|NM_023926,p.R51H|uc002qrk.1,p.R51H|NM_001145542,p.R107H	retained_intron, protein_coding, processed_transcript	uc010yht.1	nonsynonymous SNV	exon2	c.G320A	p.R107H	ERTPADLEFSRLRFREFVYQEAAGP	ERTPADLEFSRLHFREFVYQEAAGP	7.0	7.0	-	-	4270_19:58601483-58601483 C>T_ERTPADLEFSRLHFREFVYQEAAGP
2:179647140-179647140 C>T	1.0	4270	PANCREATIC	-	-	-	-	TTN	NM_003319,p.R1014K|uc031rqc.1,p.R1060K|uc021vsy.2,p.R1060K|NM_001256850,p.R1060K|uc021vtb.2,p.R1014K|NM_133379,p.R1060K|uc002unb.3,p.R1060K|uc031rqd.1,p.R1060K|NM_001267550,p.R1060K|uc021vsz.2,p.R1014K|ENST00000591111,p.R1060K|uc021vta.2,p.R1014K|ENST00000342175,p.R1014K|ENST00000589042,p.R1060K|NM_133432,p.R1014K|ENST00000460472,p.R1014K|ENST00000342992,p.R1060K|NM_133378,p.R1060K|NM_133437,p.R1014K|ENST00000360870,p.R1060K|ENST00000359218,p.R1014K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon20	c.G3179A	p.R1060K	KFTTEEKRFVESRDVVMTDTSLTEE	KFTTEEKRFVESKDVVMTDTSLTEE	7.0	10.0	-	-	4270_2:179647140-179647140 C>T_KFTTEEKRFVESKDVVMTDTSLTEE
4:82031690-82031690 C>T	0.0	4270	PANCREATIC	-	-	-	-	PRKG2	ENST00000395578,p.A618T|uc011cch.1,p.A589T|uc011ccf.1,p.A198T|NM_006259,p.A618T|ENST00000545647,p.A198T|NM_001282485,p.A589T|NM_001282480,p.A198T|ENST00000264399,p.A618T|uc011ccg.1,p.A198T|NM_001282483,p.A138T|NM_001282481,p.A198T|uc003hmh.2,p.A618T|NM_001282482,p.A169T|ENST00000418486,p.A589T	protein_coding, processed_transcript	uc011cch.1	nonsynonymous SNV	exon15	c.G1765A	p.A589T	KTWTFCGTPEYVAPEVILNKGHDFS	KTWTFCGTPEYVTPEVILNKGHDFS	6.0	1.0	-	-	4270_4:82031690-82031690 C>T_KTWTFCGTPEYVTPEVILNKGHDFS
1:161166435-161166435 C>T	0.0	4270	PANCREATIC	-	-	-	-	ADAMTS4	ENST00000367995,p.R290H|uc001fyt.4,p.R290H|NM_005099,p.R290H|uc001fyu.2,p.R290H|ENST00000367996,p.R290H	protein_coding, processed_transcript	uc001fyu.2	nonsynonymous SNV	exon2	c.G869A	p.R290H	GPQVGPSAAQTLRSFCAWQRGLNTP	GPQVGPSAAQTLHSFCAWQRGLNTP	6.0	10.0	-	-	4270_1:161166435-161166435 C>T_GPQVGPSAAQTLHSFCAWQRGLNTP
5:121187798-121187798 G>A	0.0	4270	PANCREATIC	-	-	-	-	FTMT	uc003kss.3,p.R47H|NM_177478,p.R47H|ENST00000321339,p.R47H	protein_coding	uc003kss.3	nonsynonymous SNV	exon1	c.G140A	p.R47H	GRPLDPRQIAPRRPLAAAASSRDPT	GRPLDPRQIAPRHPLAAAASSRDPT	3.0	7.0	-	-	4270_5:121187798-121187798 G>A_GRPLDPRQIAPRHPLAAAASSRDPT
18:72343783-72343783 C>T	1.0	4270	PANCREATIC	-	-	-	-	ZNF407	uc010dqu.2,p.R270C|NM_001146189,p.R270C|uc010xfc.2,p.R270C|NM_001146190,p.R270C|ENST00000582337,p.R270C|NM_017757,p.R270C|ENST00000577538,p.R270C|uc002llu.2,p.R269C|ENST00000309902,p.R270C|ENST00000299687,p.R270C|uc002llw.2,p.R270C	retained_intron, protein_coding, processed_transcript	uc010xfc.2	nonsynonymous SNV	exon1	c.C808T	p.R270C	LLNAHYLGKTHLRRQNLAARGGFVQ	LLNAHYLGKTHLCRQNLAARGGFVQ	7.0	9.0	-	-	4270_18:72343783-72343783 C>T_LLNAHYLGKTHLCRQNLAARGGFVQ
1:55076217-55076217 G>A	1.0	4270	PANCREATIC	-	-	ID=COSM1206132;OCCURENCE=1(large_intestine)	-	FAM151A	ENST00000302250,p.R318W|NM_176782,p.R318W|uc001cxn.3,p.R318W	protein_coding	uc001cxn.3	nonsynonymous SNV	exon7	c.C952T	p.R318W	LSQFKQLALNATRKPMYYTGGSLIP	LSQFKQLALNATWKPMYYTGGSLIP	4.0	5.0	-	-	4270_1:55076217-55076217 G>A_LSQFKQLALNATWKPMYYTGGSLIP
7:100644090-100644090 G>A	1.0	4270	PANCREATIC	-	rs149265838	-	-	MUC12	NM_001164462,p.A3416T|uc003uxo.3,p.A3416T|ENST00000379442,p.A3559T|ENST00000536621,p.A3416T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G10246A	p.A3416T	SEESTASHSSQDATGTIVLPARSTT	SEESTASHSSQDTTGTIVLPARSTT	7.0	4.0	unscreened	-	4270_7:100644090-100644090 G>A_SEESTASHSSQDTTGTIVLPARSTT
19:22575088-22575088 C>A	1.0	4270	PANCREATIC	-	-	-	-	ZNF98	ENST00000357774,p.A317S|NM_001098626,p.A317S|uc002nqt.2,p.A317S	protein_coding, processed_transcript	uc002nqt.2	nonsynonymous SNV	exon4	c.G949T	p.A317S	QSSTLTAHKIIHAGEKPYKCEECGK	QSSTLTAHKIIHSGEKPYKCEECGK	6.0	4.0	-	-	4270_19:22575088-22575088 C>A_QSSTLTAHKIIHSGEKPYKCEECGK
11:117166049-117166049 C>T	1.0	4270	PANCREATIC	-	-	ID=COSM1351511;OCCURENCE=1(large_intestine)	-	BACE1	uc001pqy.3,p.R122Q|uc001pqw.3,p.R122Q|ENST00000313005,p.R122Q|uc001pqz.3,p.R122Q|NM_012104,p.R122Q|ENST00000513780,p.R122Q|NM_138972,p.R122Q|NM_138973,p.R122Q|ENST00000528053,p.R122Q|ENST00000445823,p.R122Q|ENST00000428381,p.R122Q|uc001pqx.3,p.R122Q|NM_138971,p.R122Q	retained_intron, protein_coding, processed_transcript	uc001pqz.3	nonsynonymous SNV	exon3	c.G365A	p.R122Q	HRYYQRQLSSTYRDLRKGVYVPYTQ	HRYYQRQLSSTYQDLRKGVYVPYTQ	7.0	6.0	-	-	4270_11:117166049-117166049 C>T_HRYYQRQLSSTYQDLRKGVYVPYTQ
1:43779556-43779556 A>G	0.0	4270	PANCREATIC	-	-	-	-	TIE1	uc010oke.2,p.I731V|NM_001253357,p.I731V|uc010okf.1,p.I421V|NM_005424,p.I776V|uc001ciu.3,p.I776V|ENST00000433781,p.I421V|uc009vwq.3,p.I732V|uc010okg.2,p.I421V|ENST00000372476,p.I776V	protein_coding, processed_transcript	uc010okg.2	nonsynonymous SNV	exon9	c.A1261G	p.I421V	AVVGSVSATCLTILAALLTLVCIRR	AVVGSVSATCLTVLAALLTLVCIRR	9.0	3.0	-	-	4270_1:43779556-43779556 A>G_AVVGSVSATCLTVLAALLTLVCIRR
7:105135679-105135679 G>T	1.0	4270	PANCREATIC	-	-	-	-	PUS7	uc010lji.3,p.P257Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010lji.3	nonsynonymous SNV	exon6	c.C770A	p.P257Q	VRTAADPRKHSWPKSRGSYCHFVLY	VRTAADPRKHSWQKSRGSYCHFVLY	8.0	1.0	-	-	4270_7:105135679-105135679 G>T_VRTAADPRKHSWQKSRGSYCHFVLY
8:13425120-13425120 C>T	0.0	4270	PANCREATIC	-	-	ID=COSM1455021;OCCURENCE=1(large_intestine)	-	C8orf48	ENST00000297324,p.A207V|uc003wwp.3,p.A207V|NM_001007090,p.A207V	protein_coding	uc003wwp.3	nonsynonymous SNV	exon1	c.C620T	p.A207V	ISYQCPYCNRKRAELALSAFLKQKK	ISYQCPYCNRKRVELALSAFLKQKK	4.0	1.0	-	-	4270_8:13425120-13425120 C>T_ISYQCPYCNRKRVELALSAFLKQKK
3:11070432-11070432 G>A	0.0	4270	PANCREATIC	-	-	-	-	SLC6A1	ENST00000287766,p.A364T|ENST00000536032,p.A186T|uc031ryl.1,p.A186T|NM_003042,p.A364T|uc010hdq.3,p.A364T	retained_intron, protein_coding, processed_transcript	uc031ryl.1	nonsynonymous SNV	exon8	c.G556A	p.A186T	SIADVAASGPGLAFLAYPEAVTQLP	SIADVAASGPGLTFLAYPEAVTQLP	5.0	10.0	-	-	4270_3:11070432-11070432 G>A_SIADVAASGPGLTFLAYPEAVTQLP
11:117166049-117166049 C>T	1.0	4270	PANCREATIC	-	-	ID=COSM1351511;OCCURENCE=1(large_intestine)	-	BACE1	uc010rxg.2,p.R22Q|ENST00000510630,p.R22Q|NM_001207049,p.R22Q|ENST00000392937,p.R22Q|uc010rxh.2,p.R22Q|NM_001207048,p.R22Q	retained_intron, protein_coding, processed_transcript	uc010rxh.2	nonsynonymous SNV	exon2	c.G65A	p.R22Q	HFTLCSGWSSTYRDLRKGVYVPYTQ	HFTLCSGWSSTYQDLRKGVYVPYTQ	7.0	6.0	-	-	4270_11:117166049-117166049 C>T_HFTLCSGWSSTYQDLRKGVYVPYTQ
17:39394711-39394725 GACCACCTGCTGCAG>-	0.0	4270	PANCREATIC	-	-	ID=COSM1383118;OCCURENCE=4(large_intestine)	-	KRTAP9-8	ENST00000254072,p.136_141del|uc002hwh.4,p.136_141del|NM_031963,p.136_141del	protein_coding	uc002hwh.4	nonframeshift deletion	exon1	c.408_422del	p.136_141del	NCCQPCCRPACCETTCCRTTCFQPT	NCCQPCCRPACCETTCFQPTCVSSC	5.0	5.0	-	-	4270_17:39394711-39394725 GACCACCTGCTGCAG>-_NCCQPCCRPACCETTCFQPTCVSSC
11:61959649-61959649 G>C	0.0	4270	PANCREATIC	-	-	-	-	SCGB1D1	NM_006552,p.K59N|uc001nsz.1,p.K59N|ENST00000306238,p.K59N	protein_coding	uc001nsz.1	nonsynonymous SNV	exon2	c.G177C	p.K59N	AKFKAPLEAVAAKMEVKKCVDTMAY	AKFKAPLEAVAANMEVKKCVDTMAY	1.0	8.0	-	-	4270_11:61959649-61959649 G>C_AKFKAPLEAVAANMEVKKCVDTMAY
12:55846835-55846835 G>A	0.0	4270	PANCREATIC	0.0005	-	-	-	OR6C2	NM_054105,p.A280T|uc001sgz.1,p.A280T|ENST00000322678,p.A280T	protein_coding	uc001sgz.1	nonsynonymous SNV	exon1	c.G838A	p.A280T	INKGVSVLTTSVAPLLNPFIYTLRN	INKGVSVLTTSVTPLLNPFIYTLRN	2.0	1.0	-	-	4270_12:55846835-55846835 G>A_INKGVSVLTTSVTPLLNPFIYTLRN
15:52628714-52628714 G>A	0.0	4270	PANCREATIC	-	-	-	1	MYO5A	NM_000259,p.R1427C|uc002aby.2,p.R1427C|uc010ugd.1,p.R149C|ENST00000399231,p.R1427C|ENST00000356338,p.R1400C|ENST00000399229,p.R157C|ENST00000399233,p.R1424C|ENST00000358212,p.R1452C|NM_001142495,p.R1400C|ENST00000553916,p.R1425C|uc002abx.3,p.R1400C	retained_intron, protein_coding, nonsense_mediated_decay	uc010ugd.1	nonsynonymous SNV	exon4	c.C445T	p.R149C	LMEQLEKQDKTVRKLKKQLKVFAKK	LMEQLEKQDKTVCKLKKQLKVFAKK	9.0	2.0	-	-	4270_15:52628714-52628714 G>A_LMEQLEKQDKTVCKLKKQLKVFAKK
9:33960838-33960838 C>A	0.0	4270	PANCREATIC	-	-	-	-	UBAP2	ENST00000379239,p.K17N|uc011lod.1,p.K17N|NM_001282529,p.K17N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lod.1	nonsynonymous SNV	exon7	c.G51T	p.K17N	GLGRILWKSGQQKTGLKIIDLVALL	GLGRILWKSGQQNTGLKIIDLVALL	9.0	5.0	-	-	4270_9:33960838-33960838 C>A_GLGRILWKSGQQNTGLKIIDLVALL
14:25101099-25101099 C>T	0.0	4270	PANCREATIC	-	-	-	-	GZMB	uc001wps.2,p.V189M|ENST00000382540,p.V144M|uc010ama.2,p.V177M|ENST00000382542,p.V223M|ENST00000216341,p.V189M|NM_004131,p.V189M|ENST00000415355,p.V177M	protein_coding, nonsense_mediated_decay	uc010ama.2	nonsynonymous SNV	exon4	c.G529A	p.V177M	LRHYYDSTIELCVGDPEIKKTSFKG	LRHYYDSTIELCMGDPEIKKTSFKG	7.0	7.0	-	-	4270_14:25101099-25101099 C>T_LRHYYDSTIELCMGDPEIKKTSFKG
5:146258290-146258290 ->GCTGCTGCT	0.0	4270	PANCREATIC	-	-	-	-	PPP2R2B	NM_181675,p.C20delinsSSSC|uc003log.5,p.C20delinsSSSC	protein_coding, processed_transcript, nonsense_mediated_decay	uc003log.5	nonframeshift insertion	exon1	c.57_58insAGCAGCAGC	p.C20delinsSSSC	SCSSSSSSSSSSCECARVGVRVSAL	SCSSSSSSSSSSSSSCECARVGVRV	5.0	10.0	unscreened	-	4270_5:146258290-146258290 ->GCTGCTGCT_SCSSSSSSSSSSSSSCECARVGVRV
20:44683610-44683610 G>A	0.0	4270	PANCREATIC	-	-	ID=COSM1326702;OCCURENCE=1(ovary)	-	SLC12A5	uc002xrb.2,p.R912H|ENST00000243964,p.R912H|uc010zxl.1,p.R935H|NM_001134771,p.R935H|ENST00000454036,p.R935H|NM_020708,p.R912H	protein_coding	uc010zxl.1	nonsynonymous SNV	exon21	c.G2804A	p.R935H	AYTYEKTLVMEQRSQILKQMHLTKN	AYTYEKTLVMEQHSQILKQMHLTKN	4.0	9.0	-	-	4270_20:44683610-44683610 G>A_AYTYEKTLVMEQHSQILKQMHLTKN
3:195506414-195506414 G>C	1.0	4270	PANCREATIC	-	-	-	2	MUC4	ENST00000470451,p.H4013D|ENST00000477756,p.H4013D|uc021xjp.1,p.H4013D|ENST00000462323,p.H4013D|ENST00000480843,p.H4013D|ENST00000463781,p.H4013D|NM_018406,p.H4013D|ENST00000479406,p.H4013D|ENST00000466475,p.H4013D|ENST00000478156,p.H4013D|ENST00000477086,p.H4013D|ENST00000475231,p.H4013D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C12037G	p.H4013D	LPVTSTSSVSTGHATPLPVTSPSSA	LPVTSTSSVSTGDATPLPVTSPSSA	8.0	3.0	unscreened	-	4270_3:195506414-195506414 G>C_LPVTSTSSVSTGDATPLPVTSPSSA
1:53925373-53925373 ->CCGCCC	0.0	4270	PANCREATIC	-	-	-	-	DMRTB1	ENST00000371445,p.A83delinsAAP|uc001cvq.1,p.A83delinsAAP|NM_033067,p.A83delinsAAP	protein_coding, processed_transcript	uc001cvq.1	nonframeshift insertion	exon1	c.247_248insCCGCCC	p.A83delinsAAP	AQGPKQASGAAAAAPAPVPVPAASL	AQGPKQASGAAAAAPAPAPVPVPAA	2.0	5.0	unscreened	-	4270_1:53925373-53925373 ->CCGCCC_AQGPKQASGAAAAAPAPAPVPVPAA
8:10465727-10465727 T>A	0.0	4270	PANCREATIC	-	-	-	-	RP1L1	ENST00000382483,p.I1961L|NM_178857,p.I1961L|uc003wtc.3,p.I1961L	protein_coding, processed_transcript	uc003wtc.3	nonsynonymous SNV	exon4	c.A5881T	p.I1961L	EAEGQTQPESEVIESQEAEEEAQPE	EAEGQTQPESEVLESQEAEEEAQPE	5.0	2.0	-	-	4270_8:10465727-10465727 T>A_EAEGQTQPESEVLESQEAEEEAQPE
17:41994814-41994814 G>A	0.0	4270	PANCREATIC	-	-	-	-	FAM215A	ENST00000588043,p.G46S|uc010wiq.1,p.G46S	protein_coding	uc010wiq.1	nonsynonymous SNV	exon1	c.G136A	p.G46S	ASSEPTPEDALGGSAVPVRFHLHPE	ASSEPTPEDALGSSAVPVRFHLHPE	1.0	1.0	unscreened	-	4270_17:41994814-41994814 G>A_ASSEPTPEDALGSSAVPVRFHLHPE
9:35811497-35811497 ->CCAGGA	0.0	4270	PANCREATIC	-	-	-	-	SPAG8	ENST00000340291,p.G182delinsGPG|uc003zye.3,p.G182delinsGPG|NM_001039592,p.G182delinsGPG|ENST00000475644,p.G182delinsGPG|ENST00000396638,p.G182delinsGPG|NM_172312,p.G182delinsGPG|uc003zyg.3,p.G182delinsGPG|ENST00000484764,p.G180delinsGPG	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zyg.3	nonframeshift insertion	exon2	c.545_546insTCCTGG	p.G182delinsGPG	GSGSGPGPGSGPGSGPGHGSGSHPG	GSGSGPGPGSGPGPGSGPGHGSGSH	5.0	1.0	unscreened	-	4270_9:35811497-35811497 ->CCAGGA_GSGSGPGPGSGPGPGSGPGHGSGSH
7:19184714-19184714 C>T	0.0	4270	PANCREATIC	-	-	-	-	FERD3L	NM_152898,p.R91H|ENST00000275461,p.R91H|uc003suo.1,p.R91H	protein_coding	uc003suo.1	nonsynonymous SNV	exon1	c.G272A	p.R91H	EEERGRGVSLLGRPKRKRVITYAQR	EEERGRGVSLLGHPKRKRVITYAQR	1.0	6.0	-	-	4270_7:19184714-19184714 C>T_EEERGRGVSLLGHPKRKRVITYAQR
17:15477465-15477465 G>T	0.0	4270	PANCREATIC	-	-	-	-	CDRT1	uc002gor.1,p.A937E|ENST00000455584,p.A937E	protein_coding	uc002gor.1	nonsynonymous SNV	exon17	c.C2810A	p.A937E	PKLELNNQSKCLAHSQGSTALPCTS	PKLELNNQSKCLEHSQGSTALPCTS	1.0	3.0	-	-	4270_17:15477465-15477465 G>T_PKLELNNQSKCLEHSQGSTALPCTS
19:36002421-36002421 ->CTGCTGCTG	0.0	4270	PANCREATIC	-	-	-	-	DMKN	ENST00000418261,p.G270delinsGSSS|NM_001190349,p.G270delinsGSSS|uc002oaa.4,p.G270delinsGSSS|NM_001126057,p.G270delinsGSSS|NM_033317,p.G270delinsGSSS|uc002oab.4,p.G270delinsGSSS|ENST00000451297,p.G270delinsGSSS|ENST00000339686,p.G270delinsGSSS|uc002oac.4,p.G270delinsGSSS|ENST00000440396,p.G270delinsGSSS|ENST00000424570,p.G270delinsGSSS|NM_001190348,p.G270delinsGSSS|NM_001126058,p.G270delinsGSSS|uc002nzm.4,p.G270delinsGSSS|ENST00000447113,p.G270delinsGSSS|uc002nzz.3,p.G270delinsGSSS	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oac.4	nonframeshift insertion	exon5	c.809_810insCAGCAGCAG	p.G270delinsGSSS	GSNGDNNNGSSSGGSSSGSSSGGSS	GSNGDNNNGSSSGSSSGSSSGSSSG	8.0	10.0	unscreened	-	4270_19:36002421-36002421 ->CTGCTGCTG_GSNGDNNNGSSSGSSSGSSSGSSSG
5:176868823-176868823 C>T	1.0	4270	PANCREATIC	-	-	-	-	GRK6	ENST00000528793,p.R589W|uc021yiu.1,p.R589W|NM_002082,p.R589W	retained_intron, protein_coding, nonsense_mediated_decay	uc021yiu.1	nonsynonymous SNV	exon16	c.C1765T	p.R589W	SSPQPEAPTSSWR	SSPQPEAPTSSWW	9.0	9.0	-	-	4270_5:176868823-176868823 C>T_SSPQPEAPTSSWW
19:37100905-37100905 C>T	0.0	4270	PANCREATIC	-	-	ID=COSM213331;OCCURENCE=1(breast)	-	ZNF382	ENST00000439428,p.A29V|NM_001256838,p.A29V|uc002oel.3,p.A30V|NM_032825,p.A30V|ENST00000435416,p.A30V|ENST00000292928,p.A30V|uc002oek.4,p.A30V|uc010efb.4,p.A29V	retained_intron, protein_coding	uc010efb.4	nonsynonymous SNV	exon3	c.C86T	p.A29V	QEEWQQLDPAQKALYRDVMLENYCH	QEEWQQLDPAQKVLYRDVMLENYCH	5.0	8.0	-	-	4270_19:37100905-37100905 C>T_QEEWQQLDPAQKVLYRDVMLENYCH
14:20404693-20404693 A>T	0.0	4270	PANCREATIC	-	-	-	-	OR4K1	uc001vwj.2,p.R290W|ENST00000285600,p.R290W|NM_001004063,p.R290W	protein_coding	uc001vwj.2	nonsynonymous SNV	exon1	c.A868T	p.R290W	CTPLLNPIIYSLRNEDVKAAMWKLR	CTPLLNPIIYSLWNEDVKAAMWKLR	3.0	8.0	-	-	4270_14:20404693-20404693 A>T_CTPLLNPIIYSLWNEDVKAAMWKLR
6:49931814-49931814 C>T	0.0	4270	PANCREATIC	-	-	-	-	DEFB114	uc011dwp.2,p.R2K|NM_001037499,p.R2K|ENST00000322066,p.R2K	protein_coding	uc011dwp.2	nonsynonymous SNV	exon1	c.G5A	p.R2K	MRIFYYLHFLCYVT	MKIFYYLHFLCYVT	1.0	8.0	-	-	4270_6:49931814-49931814 C>T_MKIFYYLHFLCYVT
16:66972111-66972111 G>A	1.0	4270	PANCREATIC	-	-	-	-	CES2	uc002eqq.3,p.S147N|ENST00000417689,p.S147N|uc002eqr.3,p.S147N|NM_198061,p.S147N|ENST00000317091,p.S147N|NM_003869,p.S147N	retained_intron, protein_coding, nonsense_mediated_decay	uc002eqr.3	nonsynonymous SNV	exon2	c.G440A	p.S147N	LRFAPPEPPESWSGVRDGTTHPAMC	LRFAPPEPPESWNGVRDGTTHPAMC	10.0	6.0	-	-	4270_16:66972111-66972111 G>A_LRFAPPEPPESWNGVRDGTTHPAMC
12:53069243-53069243 T>C	0.0	4270	PANCREATIC	-	-	-	-	KRT1	uc001sau.1,p.S557G|ENST00000252244,p.S557G|NM_006121,p.S557G	retained_intron, protein_coding	uc001sau.1	nonsynonymous SNV	exon9	c.A1669G	p.S557G	GGGGRGSYGSGGSSYGSGGGSYGSG	GGGGRGSYGSGGGSYGSGGGSYGSG	5.0	5.0	unscreened	-	4270_12:53069243-53069243 T>C_GGGGRGSYGSGGGSYGSGGGSYGSG
8:55540163-55540163 G>T	0.0	4270	PANCREATIC	-	-	-	-	RP1	NM_006269,p.A1241S|ENST00000220676,p.A1241S|uc003xsd.1,p.A1241S	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.G3721T	p.A1241S	TQGISSLDGGCSASEACAPEVCVLE	TQGISSLDGGCSSSEACAPEVCVLE	5.0	8.0	-	-	4270_8:55540163-55540163 G>T_TQGISSLDGGCSSSEACAPEVCVLE
4:188924822-188924825 TCAG>-	0.0	4270	PANCREATIC	-	-	-	-	ZFP42	uc003izh.1,p.I287fs|uc003izi.1,p.I287fs|ENST00000326866,p.I287fs|uc021xvm.1,p.I287fs|ENST00000509524,p.I287fs|NM_174900,p.I287fs	protein_coding	uc021xvm.1	frameshift deletion	exon1	c.861_864del	p.I287fs	FVCPFQGCNRRFIQSNNLKAHILTH	FVCPFQGCNRRFIQIT	2.0	5.0	-	-	4270_4:188924822-188924825 TCAG>-_FVCPFQGCNRRFIQIT
5:180377222-180377222 G>A	1.0	4271	COLON	-	-	-	-	BTNL8	uc003mmp.3,p.R394H|NM_001040462,p.R394H|ENST00000511704,p.R278H|uc011dhg.2,p.R269H|ENST00000400707,p.R269H|ENST00000533815,p.R210H|ENST00000340184,p.R394H|uc010jlm.3,p.R278H|uc011dhh.2,p.R210H|NM_001159710,p.R210H|NM_001159709,p.R269H|ENST00000505126,p.R187H|NM_001159707,p.R278H	retained_intron, protein_coding, nonsense_mediated_decay	uc011dhh.2	nonsynonymous SNV	exon7	c.G629A	p.R210H	LNGEHLYFTLNPRFISVFPRTPPTK	LNGEHLYFTLNPHFISVFPRTPPTK	8.0	8.0	-	-	4271_5:180377222-180377222 G>A_LNGEHLYFTLNPHFISVFPRTPPTK
1:233297042-233297042 G>A	1.0	4271	COLON	-	-	-	-	PCNXL2	ENST00000488780,p.A247V|ENST00000258229,p.A1114V|uc001hvl.2,p.A1114V|NM_014801,p.A1114V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hvl.2	nonsynonymous SNV	exon18	c.C3341T	p.A1114V	CAVVAVLSFAVSASTVFLSLRPFLS	CAVVAVLSFAVSVSTVFLSLRPFLS	8.0	5.0	-	-	4271_1:233297042-233297042 G>A_CAVVAVLSFAVSVSTVFLSLRPFLS
1:43893309-43893309 G>A	1.0	4271	COLON	-	-	-	-	SZT2	NM_015284,p.R1179Q|ENST00000562955,p.R1179Q|uc001cjk.3,p.R1179Q|ENST00000372442,p.R337Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001cjk.3	nonsynonymous SNV	exon25	c.G3536A	p.R1179Q	ASQTESADGPRTRCPVYIYSCSLEA	ASQTESADGPRTQCPVYIYSCSLEA	7.0	4.0	-	-	4271_1:43893309-43893309 G>A_ASQTESADGPRTQCPVYIYSCSLEA
19:15223193-15223193 G>A	1.0	4271	COLON	-	-	-	-	SYDE1	NM_001300910,p.V472I|uc002naj.1,p.V196I|uc002nai.1,p.V472I|ENST00000342784,p.V539I|NM_033025,p.V539I|ENST00000600252,p.V196I|uc002nah.1,p.V539I|ENST00000600440,p.V472I	protein_coding	uc002naj.1	nonsynonymous SNV	exon4	c.G586A	p.V196I	ATLTLLLDHLRLVSSFHAYNRMTPQ	ATLTLLLDHLRLISSFHAYNRMTPQ	6.0	9.0	-	-	4271_19:15223193-15223193 G>A_ATLTLLLDHLRLISSFHAYNRMTPQ
10:12148275-12148275 G>A	1.0	4271	COLON	-	-	ID=COSM77578;OCCURENCE=1(ovary),1(large_intestine)	-	DHTKD1	ENST00000263035,p.V643I|uc001ild.5,p.V643I|NM_018706,p.V643I	protein_coding, processed_transcript	uc001ild.5	nonsynonymous SNV	exon11	c.G1927A	p.V643I	LEVSNSPLSEEAVLGFEYGMSIESP	LEVSNSPLSEEAILGFEYGMSIESP	9.0	1.0	CD8	-	4271_10:12148275-12148275 G>A_LEVSNSPLSEEAILGFEYGMSIESP
10:12214821-12214821 C>T	1.0	4271	COLON	-	-	-	-	NUDT5	uc001ilj.3,p.V144M|ENST00000378927,p.V144M|ENST00000537776,p.V144M|NM_014142,p.V144M|ENST00000378937,p.V157M|ENST00000491614,p.V144M|ENST00000378940,p.V144M	protein_coding, processed_transcript, nonsense_mediated_decay	uc001ilj.3	nonsynonymous SNV	exon7	c.G430A	p.V144M	MDPGLSNCTIHIVTVTINGDDAENA	MDPGLSNCTIHIMTVTINGDDAENA	10.0	5.0	-	-	4271_10:12214821-12214821 C>T_MDPGLSNCTIHIMTVTINGDDAENA
17:7578526-7578526 C>A	1.0	4271	COLON	-	-	ID=COSM303851,COSM303852,COSM2744945,COSM303850,COSM10647,COSM3820723,COSM303849;OCCURENCE=4(large_intestine),1(prostate),1(eye),1(kidney),1(liver),1(urinary_tract),3(breast),3(soft_tissue),2(ovary),1(pituitary),2(haematopoietic_and_lymphoid_tissue),5(lung),11(oesophagus),6(upper_aerodigestive_tract),3(stomach)	1	TP53	ENST00000514944,p.C42F|uc002gin.3,p.C42F	retained_intron, protein_coding, processed_transcript	uc002gin.3	nonsynonymous SNV	exon4	c.G125T	p.C42F	NVLYSPALNKMFCQLAKTCPVQLWV	NVLYSPALNKMFFQLAKTCPVQLWV	10.0	10.0	-	-	4271_17:7578526-7578526 C>A_NVLYSPALNKMFFQLAKTCPVQLWV
17:7578526-7578526 C>A	1.0	4271	COLON	-	-	ID=COSM303851,COSM303852,COSM2744945,COSM303850,COSM10647,COSM3820723,COSM303849;OCCURENCE=4(large_intestine),1(prostate),1(eye),1(kidney),1(liver),1(urinary_tract),3(breast),3(soft_tissue),2(ovary),1(pituitary),2(haematopoietic_and_lymphoid_tissue),5(lung),11(oesophagus),6(upper_aerodigestive_tract),3(stomach)	1	TP53	uc002gij.3,p.C96F|NM_001126113,p.C135F|ENST00000445888,p.C135F|ENST00000420246,p.C135F|NM_001276761,p.C96F|NM_001126118,p.C96F|NM_001126112,p.C135F|NM_001276695,p.C96F|uc002gih.3,p.C135F|NM_001126114,p.C135F|NM_001276760,p.C96F|uc010vug.3,p.C96F|ENST00000269305,p.C135F|NM_001276696,p.C96F|ENST00000455263,p.C135F|uc002gig.1,p.C135F|uc031qyq.1,p.C96F|NM_000546,p.C135F|ENST00000508793,p.C135F|ENST00000413465,p.C135F|ENST00000359597,p.C135F	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon4	c.G287T	p.C96F	TCTYSPALNKMFCQLAKTCPVQLWV	TCTYSPALNKMFFQLAKTCPVQLWV	10.0	10.0	-	-	4271_17:7578526-7578526 C>A_TCTYSPALNKMFFQLAKTCPVQLWV
1:148017573-148017573 G>A	1.0	4271	COLON	-	-	ID=COSM1498151;OCCURENCE=1(lung)	-	NBPF8	NM_001037501,p.S577L|uc021owe.1,p.S116L|ENST00000369219,p.S237L|uc021owd.1,p.S116L|uc001eqf.4,p.S577L|uc001eqq.3,p.S237L	protein_coding	uc021owe.1	nonsynonymous SNV	exon3	c.C347T	p.S116L	YSTLSIPPEMLASYKSYSSTFHSLE	YSTLSIPPEMLALYKSYSSTFHSLE	10.0	1.0	-	-	4271_1:148017573-148017573 G>A_YSTLSIPPEMLALYKSYSSTFHSLE
4:728815-728815 G>A	1.0	4271	COLON	-	-	-	-	PCGF3	ENST00000433814,p.G69S|uc010ibh.3,p.G69S|NM_006315,p.G69S|uc011bva.1,p.G69S|ENST00000521023,p.G35S|ENST00000362003,p.G69S|ENST00000505655,p.G69S|uc003gbh.3,p.G35S|ENST00000470161,p.G69S|uc003gbe.3,p.G69S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bva.1	nonsynonymous SNV	exon6	c.G205A	p.G69S	IVIHQSHPLQYIGHDRTMQDIVYKL	IVIHQSHPLQYISHDRTMQDIVYKL	7.0	10.0	-	-	4271_4:728815-728815 G>A_IVIHQSHPLQYISHDRTMQDIVYKL
7:23383458-23383458 G>A	1.0	4271	COLON	-	-	-	-	IGF2BP3	uc003swg.3,p.T319M|ENST00000258729,p.T319M|NM_006547,p.T319M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003swg.3	nonsynonymous SNV	exon9	c.C956T	p.T319M	DTKITISPLQELTLYNPERTITVKG	DTKITISPLQELMLYNPERTITVKG	10.0	2.0	-	-	4271_7:23383458-23383458 G>A_DTKITISPLQELMLYNPERTITVKG
6:105224663-105224663 T>A	1.0	4271	COLON	-	-	-	-	HACE1	ENST00000262903,p.N606I|uc003pqt.1,p.N259I|uc010kcy.1,p.N88I|uc010kcx.1,p.N15I|NM_020771,p.N606I|uc003pqu.1,p.N606I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kcy.1	nonsynonymous SNV	exon19	c.A263T	p.N88I	QGVVREWFDILSNEIVNPDYALFTQ	QGVVREWFDILSIEIVNPDYALFTQ	7.0	7.0	-	-	4271_6:105224663-105224663 T>A_QGVVREWFDILSIEIVNPDYALFTQ
7:81591768-81591768 G>A	0.0	4271	COLON	-	-	-	-	CACNA2D1	ENST00000356860,p.L942F|ENST00000535308,p.L154F|uc003uhr.1,p.L942F|NM_000722,p.L942F|uc011kgy.1,p.L154F|ENST00000356253,p.L954F	retained_intron, protein_coding, processed_transcript	uc011kgy.1	nonsynonymous SNV	exon7	c.C460T	p.L154F	LQQFLLSLTFPRLLEAVEMEDDDFT	LQQFLLSLTFPRFLEAVEMEDDDFT	7.0	3.0	-	-	4271_7:81591768-81591768 G>A_LQQFLLSLTFPRFLEAVEMEDDDFT
10:94366464-94366464 C>G	1.0	4271	COLON	-	-	-	-	KIF11	ENST00000260731,p.T100S|NM_004523,p.T100S|uc001kic.3,p.T100S	protein_coding	uc001kic.3	nonsynonymous SNV	exon3	c.C299G	p.T100S	PILDEVIMGYNCTIFAYGQTGTGKT	PILDEVIMGYNCSIFAYGQTGTGKT	8.0	2.0	-	-	4271_10:94366464-94366464 C>G_PILDEVIMGYNCSIFAYGQTGTGKT
6:52663989-52663989 G>A	1.0	4271	COLON	-	-	-	-	GSTA1	uc003paz.3,p.A26V|NM_145740,p.A26V|ENST00000334575,p.A26V|uc021zan.1,p.A26V	protein_coding, processed_transcript	uc021zan.1	nonsynonymous SNV	exon2	c.C77T	p.A26V	GRMESTRWLLAAAGVEFEEKFIKSA	GRMESTRWLLAAVGVEFEEKFIKSA	6.0	1.0	-	-	4271_6:52663989-52663989 G>A_GRMESTRWLLAAVGVEFEEKFIKSA
12:53877440-53877440 G>A	1.0	4271	COLON	-	-	-	-	MAP3K12	ENST00000547488,p.L476F|ENST00000547035,p.L476F|uc001sdn.2,p.L476F|ENST00000267079,p.L443F|uc001sdm.2,p.L443F|NM_006301,p.L443F|NM_001193511,p.L476F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sdn.2	nonsynonymous SNV	exon9	c.C1426T	p.L476F	RKLERANNLYMELNALMLQLELKER	RKLERANNLYMEFNALMLQLELKER	5.0	1.0	-	-	4271_12:53877440-53877440 G>A_RKLERANNLYMEFNALMLQLELKER
9:34402709-34402709 C>T	1.0	4271	COLON	-	-	-	-	FAM219A	NM_001184945,p.R58Q|ENST00000379080,p.R74Q|ENST00000379081,p.R57Q|NM_001184942,p.R75Q|ENST00000379084,p.R68Q|uc022bgd.1,p.R69Q|NM_001184940,p.R86Q|ENST00000422409,p.R85Q|NM_147202,p.R69Q|uc003zuk.3,p.R58Q|uc022bgc.1,p.R86Q|ENST00000379089,p.R85Q|NM_001184943,p.R69Q|ENST00000297620,p.R69Q|ENST00000445726,p.R86Q|NM_001184941,p.R86Q|ENST00000379078,p.R85Q|ENST00000379087,p.R68Q|uc003zul.3,p.R58Q|uc011lol.2,p.R75Q|uc003zuj.3,p.R69Q|uc011lok.2,p.R86Q	protein_coding	uc022bgd.1	nonsynonymous SNV	exon3	c.G206A	p.R69Q	VNQQPKKNNVMARTRLVVPNKGYSS	VNQQPKKNNVMAQTRLVVPNKGYSS	6.0	6.0	-	-	4271_9:34402709-34402709 C>T_VNQQPKKNNVMAQTRLVVPNKGYSS
16:598273-598273 G>A	1.0	4271	COLON	-	-	-	-	CAPN15	NM_005632,p.A479T|ENST00000219611,p.A479T|uc002chi.3,p.A479T	retained_intron, protein_coding, processed_transcript	uc002chi.3	nonsynonymous SNV	exon4	c.G1435A	p.A479T	EGEAKALWENIVAFCRENNVSFVDD	EGEAKALWENIVTFCRENNVSFVDD	7.0	6.0	-	-	4271_16:598273-598273 G>A_EGEAKALWENIVTFCRENNVSFVDD
12:7173274-7173274 C>T	1.0	4271	COLON	-	-	ID=COSM108691;OCCURENCE=1(skin)	-	C1S	ENST00000402681,p.P124S|uc009zfr.3,p.P124S|uc001qsj.3,p.P291S|ENST00000360817,p.P291S|ENST00000542978,p.P124S|ENST00000328916,p.P291S|uc001qsl.3,p.P291S|NM_001734,p.P291S|NM_201442,p.P291S|ENST00000406697,p.P291S|uc001qsk.3,p.P291S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zfr.3	nonsynonymous SNV	exon6	c.C370T	p.P124S	QKKGWKLRYHGDPMPCPKEDTPNSV	QKKGWKLRYHGDSMPCPKEDTPNSV	10.0	6.0	-	-	4271_12:7173274-7173274 C>T_QKKGWKLRYHGDSMPCPKEDTPNSV
5:147928270-147928270 G>A	1.0	4271	COLON	-	-	ID=COSM1064062,COSM1064064,COSM1064063;OCCURENCE=1(oesophagus),1(endometrium)	-	HTR4	ENST00000520514,p.T105M|NM_001040169,p.T105M|NM_001040172,p.T105M|ENST00000521735,p.T105M|NM_001286410,p.T105M|ENST00000521530,p.T105M|NM_199453,p.T105M|ENST00000377888,p.T105M|uc021yfh.1,p.T105M|uc003lpn.3,p.T105M|ENST00000354217,p.T105M|ENST00000522588,p.T105M|NM_001040173,p.T105M|ENST00000362016,p.T105M|ENST00000360693,p.T105M|uc021yfg.1,p.T105M|uc011dby.1,p.T105M|uc021yfi.1,p.T105M|uc021yfj.1,p.T105M|ENST00000314512,p.T105M|ENST00000517929,p.T105M|uc021yfk.1,p.T105M|ENST00000524063,p.T105M|NM_000870,p.T105M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021yfk.1	nonsynonymous SNV	exon3	c.C314T	p.T105M	CLVRTSLDVLLTTASIFHLCCISLD	CLVRTSLDVLLTMASIFHLCCISLD	2.0	5.0	-	-	4271_5:147928270-147928270 G>A_CLVRTSLDVLLTMASIFHLCCISLD
16:89603178-89603178 T>G	1.0	4271	COLON	-	-	-	-	SPG7	NM_199367,p.S444A|uc002fni.3,p.S444A|ENST00000341316,p.S444A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fni.3	nonsynonymous SNV	exon10	c.T1330G	p.S444A	TLNQLLVEMDGASLDQLPSQGTMRK	TLNQLLVEMDGAALDQLPSQGTMRK	10.0	3.0	-	-	4271_16:89603178-89603178 T>G_TLNQLLVEMDGAALDQLPSQGTMRK
7:100841484-100841484 G>A	1.0	4271	COLON	-	-	-	-	MOGAT3	ENST00000440203,p.A219V|ENST00000223114,p.A219V|NM_178176,p.A219V|uc003uyc.3,p.A219V	protein_coding	uc003uyc.3	nonsynonymous SNV	exon5	c.C656T	p.A219V	LTLQKRKGFVRLALRHGASLVPVYS	LTLQKRKGFVRLVLRHGASLVPVYS	6.0	5.0	-	-	4271_7:100841484-100841484 G>A_LTLQKRKGFVRLVLRHGASLVPVYS
7:63720645-63720645 A>G	1.0	4271	COLON	-	-	-	-	ZNF679	NM_153363,p.E29G|ENST00000421025,p.E29G|ENST00000255746,p.E29G|uc003tsx.3,p.E29G	protein_coding	uc003tsx.3	nonsynonymous SNV	exon3	c.A86G	p.E29G	TFRDVVIEFSLEEWQCLDHAQQNLY	TFRDVVIEFSLEGWQCLDHAQQNLY	5.0	6.0	-	-	4271_7:63720645-63720645 A>G_TFRDVVIEFSLEGWQCLDHAQQNLY
7:26396727-26396727 T>A	1.0	4271	COLON	-	-	-	-	SNX10	ENST00000416246,p.S28T|ENST00000412416,p.S28T|ENST00000446848,p.S28T|uc011jzg.2,p.S25T	protein_coding, processed_transcript	uc011jzg.2	nonsynonymous SNV	exon3	c.T73A	p.S25T	TRQPKLPYRSLASARGGLQEFVSVW	TRQPKLPYRSLATARGGLQEFVSVW	8.0	3.0	unscreened	-	4271_7:26396727-26396727 T>A_TRQPKLPYRSLATARGGLQEFVSVW
11:76890920-76890920 G>A	0.0	4271	COLON	-	-	-	-	MYO7A	uc001oyc.2,p.R836H|NM_001127180,p.R836H|ENST00000409619,p.R825H|uc010rsm.1,p.R825H|uc010rsl.2,p.R836H|uc001oyb.2,p.R836H|ENST00000409709,p.R836H|ENST00000458637,p.R836H|uc001oyd.3,p.R176H|NM_000260,p.R836H|ENST00000409893,p.R836H|NM_001127179,p.R836H|ENST00000458169,p.R17H|uc009yut.1,p.R47H	retained_intron, protein_coding, processed_transcript	uc010rsm.1	nonsynonymous SNV	exon22	c.G2474A	p.R825H	CRAYLVRKAFRHRLWAVLTVQAYAR	CRAYLVRKAFRHHLWAVLTVQAYAR	6.0	9.0	-	-	4271_11:76890920-76890920 G>A_CRAYLVRKAFRHHLWAVLTVQAYAR
2:220283467-220283467 G>A	0.0	4271	COLON	-	-	-	-	DES	uc002vll.3,p.D95N|NM_001927,p.D95N|ENST00000373960,p.D95N	retained_intron, protein_coding	uc002vll.3	nonsynonymous SNV	exon1	c.G283A	p.D95N	YGAGELLDFSLADAVNQEFLTTRTN	YGAGELLDFSLANAVNQEFLTTRTN	10.0	8.0	-	-	4271_2:220283467-220283467 G>A_YGAGELLDFSLANAVNQEFLTTRTN
7:100841484-100841484 G>A	1.0	4271	COLON	-	-	-	-	MOGAT3	ENST00000379423,p.A219V|uc010lhr.3,p.A219V|NM_001287147,p.A219V	protein_coding	uc010lhr.3	nonsynonymous SNV	exon5	c.C656T	p.A219V	LTLQKRKGFVRLALRHGGPPHPRPP	LTLQKRKGFVRLVLRHGGPPHPRPP	6.0	5.0	-	-	4271_7:100841484-100841484 G>A_LTLQKRKGFVRLVLRHGGPPHPRPP
12:66563697-66563697 G>A	1.0	4271	COLON	-	-	-	-	TMBIM4	uc001stc.3,p.S12L|ENST00000398033,p.S12L|NM_016056,p.S12L|NM_001282609,p.S12L|ENST00000358230,p.S12L|uc009zqs.3,p.S12L|uc009zqr.3,p.S12L|ENST00000286424,p.S12L|ENST00000545504,p.S12L|ENST00000539652,p.S12L|ENST00000556010,p.S12L|NM_001282606,p.S12L|ENST00000534930,p.S12L|uc001stf.3,p.S12L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zqs.3	nonsynonymous SNV	exon1	c.C35T	p.S12L	MADPDPRYPRSSIEDDFNYGSSVA	MADPDPRYPRSLIEDDFNYGSSVA	10.0	3.0	-	-	4271_12:66563697-66563697 G>A_MADPDPRYPRSLIEDDFNYGSSVA
19:46347345-46347345 C>T	1.0	4271	COLON	-	-	-	-	SYMPK	uc002pdq.2,p.A264T|uc002pdn.3,p.A264T|NM_004819,p.A264T|ENST00000600237,p.A264T|ENST00000245934,p.A264T|uc002pdp.1,p.A264T|uc002pdo.1,p.A264T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002pdq.2	nonsynonymous SNV	exon8	c.G790A	p.A264T	NLTTALGSLANIARQRPMFMSEVIQ	NLTTALGSLANITRQRPMFMSEVIQ	10.0	2.0	-	-	4271_19:46347345-46347345 C>T_NLTTALGSLANITRQRPMFMSEVIQ
12:46211602-46211602 G>A	1.0	4271	COLON	-	-	-	1	ARID2	ENST00000334344,p.V190I|ENST00000422737,p.V41I|NM_152641,p.V190I|uc001ros.1,p.V190I|uc001ror.3,p.V190I	retained_intron, protein_coding, processed_transcript	uc001ros.1	nonsynonymous SNV	exon5	c.G568A	p.V190I	NVCTLLSNESKHVMQLEKDPKIITL	NVCTLLSNESKHIMQLEKDPKIITL	8.0	5.0	-	-	4271_12:46211602-46211602 G>A_NVCTLLSNESKHIMQLEKDPKIITL
17:33802300-33802300 T>A	0.0	4271	COLON	-	-	-	-	SLFN12L	ENST00000260908,p.K470M|uc002hjn.3,p.K499M|uc021tuy.1,p.K470M|ENST00000361112,p.K499M|ENST00000449046,p.K501M|NM_001195790,p.K470M	retained_intron, protein_coding	uc021tuy.1	nonsynonymous SNV	exon4	c.A1409T	p.K470M	KVLCDALLISQDKPPVLYTFHMVQD	KVLCDALLISQDMPPVLYTFHMVQD	5.0	1.0	-	-	4271_17:33802300-33802300 T>A_KVLCDALLISQDMPPVLYTFHMVQD
22:18355604-18355604 T>A	0.0	4271	COLON	-	-	-	-	MICAL3	ENST00000585038,p.Y841F|NM_001136004,p.Y841F|ENST00000429452,p.Y841F|uc010grf.3,p.Y841F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010grf.3	nonsynonymous SNV	exon20	c.A2522T	p.Y841F	SSDSLRQKYIKMYTGGVSSLAEQIA	SSDSLRQKYIKMFTGGVSSLAEQIA	9.0	3.0	-	-	4271_22:18355604-18355604 T>A_SSDSLRQKYIKMFTGGVSSLAEQIA
12:8374858-8374858 C>T	1.0	4271	COLON	-	-	-	-	FAM90A1	uc001quh.2,p.A319T|NM_018088,p.A319T|uc001qui.2,p.A319T|ENST00000538603,p.A319T|ENST00000307435,p.A319T	protein_coding	uc001qui.2	nonsynonymous SNV	exon7	c.G955A	p.A319T	KPRLGPFQIPESAIQGGELGAPENL	KPRLGPFQIPESTIQGGELGAPENL	7.0	1.0	-	-	4271_12:8374858-8374858 C>T_KPRLGPFQIPESTIQGGELGAPENL
17:47009015-47009015 C>T	1.0	4271	COLON	-	-	-	-	SNF8	ENST00000502492,p.R210Q|ENST00000290330,p.R209Q|NM_007241,p.R210Q|uc002ioj.3,p.R210Q|uc002iok.3,p.R209Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002iok.3	nonsynonymous SNV	exon7	c.G626A	p.R209Q	IKASLKWETERARQVLEHLLKEGLA	IKASLKWETERAQQVLEHLLKEGLA	10.0	4.0	-	-	4271_17:47009015-47009015 C>T_IKASLKWETERAQQVLEHLLKEGLA
6:132966948-132966948 C>T	0.0	4271	COLON	-	-	-	-	TAAR1	NM_138327,p.M65I|ENST00000275216,p.M65I|uc003qdm.1,p.M65I	protein_coding	uc003qdm.1	nonsynonymous SNV	exon1	c.G195A	p.M65I	QLHTPTNWLIHSMATVDFLLGCLVM	QLHTPTNWLIHSIATVDFLLGCLVM	1.0	9.0	-	-	4271_6:132966948-132966948 C>T_QLHTPTNWLIHSIATVDFLLGCLVM
3:47891477-47891477 G>A	1.0	4271	COLON	-	-	-	-	DHX30	NM_014966,p.R1112Q|NM_138615,p.R1151Q|ENST00000457607,p.R1179Q|ENST00000446256,p.R1112Q|ENST00000348968,p.R1123Q|uc003cru.3,p.R1151Q|uc003crt.3,p.R1112Q|ENST00000445061,p.R1151Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cru.3	nonsynonymous SNV	exon22	c.G3452A	p.R1151Q	KELRRALGRMVERSLRSELAALPPS	KELRRALGRMVEQSLRSELAALPPS	9.0	9.0	-	-	4271_3:47891477-47891477 G>A_KELRRALGRMVEQSLRSELAALPPS
19:56363654-56363654 A>T	1.0	4271	COLON	-	-	-	-	NLRP4	ENST00000301295,p.N70Y|ENST00000587464,p.N70Y|uc002qmd.4,p.N70Y|ENST00000346986,p.N70Y|NM_134444,p.N70Y	protein_coding	uc002qmd.4	nonsynonymous SNV	exon2	c.A208T	p.N70Y	LLIKHYEEQQAWNITLRIFQKMDRK	LLIKHYEEQQAWYITLRIFQKMDRK	1.0	10.0	-	-	4271_19:56363654-56363654 A>T_LLIKHYEEQQAWYITLRIFQKMDRK
11:801358-801358 C>T	0.0	4271	COLON	-	-	-	-	PIDD1	ENST00000347755,p.R497H|uc001lrn.2,p.R351H|uc001lrm.1,p.R184H|uc001lrl.1,p.R351H|uc001lro.2,p.R497H|ENST00000411829,p.R497H|NM_145887,p.R497H|uc001lrp.2,p.R135H|uc001lrk.2,p.R497H|NM_145886,p.R497H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lrp.2	nonsynonymous SNV	exon6	c.G404A	p.R135H	TEEPRRVSMQVVRMAGRELQALLGE	TEEPRRVSMQVVHMAGRELQALLGE	6.0	4.0	-	-	4271_11:801358-801358 C>T_TEEPRRVSMQVVHMAGRELQALLGE
6:136599586-136599586 G>A	1.0	4271	COLON	-	-	-	2	BCLAF1	ENST00000532384,p.R145C|ENST00000531224,p.R145C|ENST00000527613,p.R145C|uc003qgy.1,p.R143C|ENST00000530429,p.R143C|uc011ede.1,p.R143C|NM_001301038,p.R143C|ENST00000534269,p.R143C|ENST00000529826,p.R145C|uc003qgw.1,p.R145C|NM_001077440,p.R143C|ENST00000353331,p.R143C|ENST00000392348,p.R143C|NM_014739,p.R145C|ENST00000530767,p.R145C|ENST00000527759,p.R143C|ENST00000527536,p.R145C|uc003qgx.1,p.R145C|NM_001077441,p.R145C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ede.1	nonsynonymous SNV	exon4	c.C427T	p.R143C	YRSSRSPRSSSSRSSSPYSKSPVSK	YRSSRSPRSSSSCSSSPYSKSPVSK	10.0	2.0	-	-	4271_6:136599586-136599586 G>A_YRSSRSPRSSSSCSSSPYSKSPVSK
5:93294611-93294611 A>T	1.0	4271	COLON	-	-	-	-	FAM172A	NM_001163417,p.N100K|NM_032042,p.N146K|uc011cuf.2,p.N100K|ENST00000502503,p.N63K|uc003kkm.4,p.N146K|uc010jbd.3,p.N146K|ENST00000395965,p.N146K|ENST00000509163,p.N100K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cuf.2	nonsynonymous SNV	exon5	c.T300A	p.N100K	KSFIFMSEDALTNPQKLMVLIHGSG	KSFIFMSEDALTKPQKLMVLIHGSG	8.0	9.0	-	-	4271_5:93294611-93294611 A>T_KSFIFMSEDALTKPQKLMVLIHGSG
12:69651524-69651524 G>A	1.0	4271	COLON	-	-	-	-	CPSF6	ENST00000266679,p.G178E|NM_001300947,p.G178E|ENST00000435070,p.G178E|ENST00000456847,p.G178E|uc001suu.4,p.G178E|NM_007007,p.G178E|uc001sut.4,p.G178E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001suu.4	nonsynonymous SNV	exon5	c.G533A	p.G178E	QFEMQSRKTTQSGQMSGEGKAGPPG	QFEMQSRKTTQSEQMSGEGKAGPPG	9.0	3.0	CD8	-	4271_12:69651524-69651524 G>A_QFEMQSRKTTQSEQMSGEGKAGPPG
3:196865195-196865195 C>T	1.0	4271	COLON	-	-	-	-	DLG1	ENST00000357674,p.E261K|NM_004087,p.E294K|ENST00000422288,p.E243K|ENST00000346964,p.E294K|uc011bue.2,p.E261K|ENST00000392381,p.E294K|ENST00000392382,p.E261K|uc003fxo.4,p.E294K|uc003fxn.4,p.E294K|uc011bub.2,p.E178K|NM_001204388,p.E178K|uc011buc.2,p.E178K|ENST00000419227,p.E243K|NM_001204387,p.E178K|uc010ial.3,p.E294K|uc010iam.1,p.E261K|uc010ian.2,p.E161K|ENST00000452595,p.E178K|ENST00000448528,p.E294K|NM_001204386,p.E261K|ENST00000443183,p.E178K|NM_001098424,p.E294K|ENST00000447466,p.E103K|ENST00000419354,p.E294K|ENST00000450955,p.E261K|ENST00000314062,p.E243K|NM_001290983,p.E294K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bue.2	nonsynonymous SNV	exon9	c.G781A	p.E261K	VDVRDVTHSKAVEALKEAGSIVRLY	VDVRDVTHSKAVKALKEAGSIVRLY	10.0	9.0	-	-	4271_3:196865195-196865195 C>T_VDVRDVTHSKAVKALKEAGSIVRLY
19:51840627-51840627 G>A	1.0	4271	COLON	-	-	-	-	VSIG10L	NM_001163922,p.L724F|ENST00000335624,p.L724F|uc002pwf.3,p.L724F	protein_coding, nonsense_mediated_decay	uc002pwf.3	nonsynonymous SNV	exon7	c.C2170T	p.L724F	GRTSTYRDWVSLLILGPQERSAVVP	GRTSTYRDWVSLFILGPQERSAVVP	4.0	1.0	-	-	4271_19:51840627-51840627 G>A_GRTSTYRDWVSLFILGPQERSAVVP
14:23818622-23818622 C>T	0.0	4271	COLON	-	-	-	-	SLC22A17	ENST00000206544,p.G129R|uc010akl.1,p.G129R|NM_016609,p.G129R|uc001wjm.3,p.G129R|NM_020372,p.G129R|uc001wjl.3,p.G129R|ENST00000354772,p.G129R|ENST00000397267,p.G129R	retained_intron, protein_coding, processed_transcript	uc010akl.1	nonsynonymous SNV	exon3	c.G385A	p.G129R	FLGYPADRFGRRGIVLLTLGLVGPC	FLGYPADRFGRRRIVLLTLGLVGPC	4.0	7.0	-	-	4271_14:23818622-23818622 C>T_FLGYPADRFGRRRIVLLTLGLVGPC
10:125804305-125804305 C>T	0.0	4271	COLON	-	-	ID=COSM1346560,COSM1346561;OCCURENCE=1(large_intestine)	-	CHST15	NM_001270765,p.R226H|ENST00000421115,p.R226H|NM_015892,p.R226H|uc010que.3,p.R226H|uc001lhm.4,p.R226H|ENST00000346248,p.R226H|uc001lhn.4,p.R226H|NM_014863,p.R226H|ENST00000435907,p.R226H|NM_001270764,p.R226H|uc001lho.4,p.R226H	protein_coding, processed_transcript	uc010que.3	nonsynonymous SNV	exon3	c.G677A	p.R226H	LTNSYVLYSKRFRSTFDALRKAFWG	LTNSYVLYSKRFHSTFDALRKAFWG	5.0	7.0	-	-	4271_10:125804305-125804305 C>T_LTNSYVLYSKRFHSTFDALRKAFWG
14:22038379-22038379 C>T	0.0	4271	COLON	-	-	ID=COSM1369060;OCCURENCE=1(large_intestine)	-	OR10G3	uc010tmb.2,p.R166H|NM_001005465,p.R166H|ENST00000303532,p.R166H	protein_coding	uc010tmb.2	nonsynonymous SNV	exon1	c.G497A	p.R166H	SIHGALQAILTFRLPYCGPNQVDYF	SIHGALQAILTFHLPYCGPNQVDYF	3.0	7.0	-	-	4271_14:22038379-22038379 C>T_SIHGALQAILTFHLPYCGPNQVDYF
17:13503906-13503906 C>T	0.0	4271	COLON	-	-	-	-	HS3ST3A1	ENST00000284110,p.V181M|uc002gob.1,p.V181M|NM_006042,p.V181M	protein_coding	uc002gob.1	nonsynonymous SNV	exon1	c.G541A	p.V181M	LEFLRVHPDVRAVGAEPHFFDRSYD	LEFLRVHPDVRAMGAEPHFFDRSYD	6.0	2.0	-	-	4271_17:13503906-13503906 C>T_LEFLRVHPDVRAMGAEPHFFDRSYD
21:39086663-39086663 G>A	0.0	4271	COLON	-	-	-	-	KCNJ6	NM_002240,p.T266M|uc002ywo.3,p.T266M|uc011aej.2,p.T266M|ENST00000400482,p.T266M|ENST00000288309,p.T266M	protein_coding	uc011aej.2	nonsynonymous SNV	exon3	c.C797T	p.T266M	PLNQTDINVGYYTGDDRLFLVSPLI	PLNQTDINVGYYMGDDRLFLVSPLI	2.0	9.0	-	-	4271_21:39086663-39086663 G>A_PLNQTDINVGYYMGDDRLFLVSPLI
12:25398284-25398284 C>T	1.0	4271	COLON	-	-	ID=COSM521,COSM1135366;OCCURENCE=1(salivary_gland),171(endometrium),265(ovary),20(soft_tissue),19(urinary_tract),1(kidney),2323(pancreas),15(liver),3(eye),22(prostate),321(biliary_tract),6237(large_intestine),18(breast),24(skin),58(small_intestine),25(upper_aerodigestive_tract),10(oesophagus),4(central_nervous_system),93(stomach),2(testis),19(cervix),114(haematopoietic_and_lymphoid_tissue),15(gastrointestinal_tract_(site_indeterminate)),37(thyroid),737(lung),25(peritoneum)	1	KRAS	ENST00000256078,p.G12D|NM_004985,p.G12D|ENST00000311936,p.G12D|uc001rgq.1,p.G12D|ENST00000556131,p.G12D|uc001rgp.1,p.G12D|NM_033360,p.G12D|ENST00000557334,p.G12D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35A	p.G12D	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGADGVGKSALTIQLI	7.0	4.0	-	-	4271_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI
5:38496589-38496589 C>T	1.0	4271	COLON	-	-	-	1	LIFR	NM_002310,p.A594T|ENST00000453190,p.A594T|ENST00000263409,p.A594T|uc003jli.2,p.A594T|NM_001127671,p.A594T|uc010ive.1,p.A594T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ive.1	nonsynonymous SNV	exon13	c.G1780A	p.A594T	QSLSEIPDPQHKAEIRLDKNDYIIS	QSLSEIPDPQHKTEIRLDKNDYIIS	6.0	1.0	-	-	4271_5:38496589-38496589 C>T_QSLSEIPDPQHKTEIRLDKNDYIIS
14:23511607-23511607 G>T	0.0	4271	COLON	-	-	-	-	PSMB11	ENST00000408907,p.R58L|NM_001099780,p.R58L|uc010ake.1,p.R58L	protein_coding	uc010ake.1	nonsynonymous SNV	exon1	c.G173T	p.R58L	LAHGTTTLAFRFRHGVIAAADTRSS	LAHGTTTLAFRFLHGVIAAADTRSS	2.0	5.0	-	-	4271_14:23511607-23511607 G>T_LAHGTTTLAFRFLHGVIAAADTRSS
6:83832690-83832690 A>C	1.0	4271	COLON	-	-	-	-	DOPEY1	NM_015018,p.E443D|uc010kbl.1,p.E434D|uc011dyy.2,p.E434D|ENST00000369739,p.E434D|ENST00000349129,p.E443D|NM_001199942,p.E434D|ENST00000237163,p.E434D|uc003pjs.1,p.E443D	retained_intron, protein_coding, processed_transcript	uc011dyy.2	nonsynonymous SNV	exon12	c.A1302C	p.E434D	PYYMWDYVARWFEECCRRTLHVRLQ	PYYMWDYVARWFDECCRRTLHVRLQ	7.0	4.0	-	-	4271_6:83832690-83832690 A>C_PYYMWDYVARWFDECCRRTLHVRLQ
1:247921392-247921392 G>T	0.0	4271	COLON	-	-	-	-	OR1C1	NM_012353,p.S106Y|ENST00000408896,p.S106Y|uc010pza.2,p.S106Y	protein_coding	uc010pza.2	nonsynonymous SNV	exon1	c.C317A	p.S106Y	FAGCLTQLFFFVSFVNMDSLLLCVM	FAGCLTQLFFFVYFVNMDSLLLCVM	3.0	5.0	-	-	4271_1:247921392-247921392 G>T_FAGCLTQLFFFVYFVNMDSLLLCVM
11:11971912-11971912 T>C	1.0	4271	COLON	-	-	-	-	USP47	uc001mjs.3,p.F1156L|ENST00000399455,p.F1176L|ENST00000339865,p.F1088L|NM_001282659,p.F1156L|uc001mjr.3,p.F1088L|NM_017944,p.F1088L|ENST00000527733,p.F1156L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mjs.3	nonsynonymous SNV	exon24	c.T3466C	p.F1156L	REQCGLELSIDRFRLRKKTWKNPGT	REQCGLELSIDRLRLRKKTWKNPGT	8.0	7.0	-	-	4271_11:11971912-11971912 T>C_REQCGLELSIDRLRLRKKTWKNPGT
19:39663886-39663886 G>A	1.0	4271	COLON	-	-	-	-	PAK4	ENST00000360442,p.R178H|uc002okn.1,p.R178H|NM_001014831,p.R178H|ENST00000358301,p.R178H|uc002okl.1,p.R178H|NM_005884,p.R178H|ENST00000593690,p.R178H|uc002okj.1,p.R178H|NM_001014832,p.R178H|ENST00000435673,p.R178H	retained_intron, protein_coding, processed_transcript	uc002okn.1	nonsynonymous SNV	exon3	c.G533A	p.R178H	GSGGPQESSRDKRPLSGPDVGTPQP	GSGGPQESSRDKHPLSGPDVGTPQP	10.0	6.0	-	-	4271_19:39663886-39663886 G>A_GSGGPQESSRDKHPLSGPDVGTPQP
18:12678185-12678186 CA>-	0.0	4271	COLON	-	-	-	-	CEP76	ENST00000262127,p.C515fs|uc002kri.4,p.C515fs|ENST00000423709,p.C440fs|uc010wzz.3,p.C440fs|uc002krh.4,p.C337fs|NM_024899,p.C515fs|NM_001271989,p.C440fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010wzz.3	frameshift deletion	exon9	c.1320_1321del	p.C440fs	GATTSLPPFPPLCASTIDASVTSNE	GATTSLPPFPPLCIHN	6.0	9.0	-	-	4271_18:12678185-12678186 CA>-_GATTSLPPFPPLCIHN
11:48347376-48347376 A>C	0.0	4271	COLON	-	-	-	-	OR4C3	uc010rhv.2,p.N295T|ENST00000319856,p.N295T|NM_001004702,p.N295T	protein_coding	uc010rhv.2	nonsynonymous SNV	exon1	c.A884C	p.N295T	YVHPFSTLPIDKNMALFYGILTPML	YVHPFSTLPIDKTMALFYGILTPML	2.0	1.0	unscreened	-	4271_11:48347376-48347376 A>C_YVHPFSTLPIDKTMALFYGILTPML
2:224809872-224809872 C>T	1.0	4271	COLON	-	-	-	-	WDFY1	uc002vnq.3,p.E44K|ENST00000429915,p.E44K|NM_020830,p.E44K|ENST00000233055,p.E44K	retained_intron, protein_coding, processed_transcript	uc002vnq.3	nonsynonymous SNV	exon1	c.G130A	p.E44K	LIPKEDGVITASEDRTIRVWLKRDS	LIPKEDGVITASKDRTIRVWLKRDS	10.0	6.0	CD8	-	4271_2:224809872-224809872 C>T_LIPKEDGVITASKDRTIRVWLKRDS
11:100061963-100061963 T>G	0.0	4271	COLON	-	-	-	-	CNTN5	ENST00000524871,p.I562M|uc021qpc.1,p.I488M|ENST00000527185,p.I562M|ENST00000418526,p.I488M|uc001pga.3,p.I562M|NM_001243270,p.I562M|ENST00000279463,p.I562M|NM_014361,p.I562M|uc021qpb.1,p.I562M|uc001pfz.3,p.I562M|ENST00000528682,p.I562M|uc009ywv.2,p.I562M|NM_175566,p.I488M|NM_001243271,p.I562M	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon11	c.T1464G	p.I488M	VCRGENVFGSAEIIASLSVKEPTRI	VCRGENVFGSAEMIASLSVKEPTRI	1.0	7.0	-	-	4271_11:100061963-100061963 T>G_VCRGENVFGSAEMIASLSVKEPTRI
5:140741254-140741254 C>T	0.0	4271	COLON	-	-	-	-	PCDHGB2	uc003ljs.2,p.R518C|NM_018923,p.R518C|NM_032096,p.R518C|ENST00000522605,p.R518C|uc011dar.2,p.R518C	protein_coding	uc011dar.2	nonsynonymous SNV	exon1	c.C1552T	p.R518C	SVSAQSGVVFAQRAFDHEQLRAFEL	SVSAQSGVVFAQCAFDHEQLRAFEL	3.0	10.0	-	-	4271_5:140741254-140741254 C>T_SVSAQSGVVFAQCAFDHEQLRAFEL
14:23518455-23518455 G>A	0.0	4271	COLON	-	-	-	-	CDH24	NM_022478,p.R581C|ENST00000554034,p.R543C|ENST00000267383,p.R581C|uc010akf.3,p.R543C|ENST00000487137,p.R543C|ENST00000397359,p.R581C|uc001wil.3,p.R581C|NM_144985,p.R543C	protein_coding, processed_transcript	uc010akf.3	nonsynonymous SNV	exon11	c.C1627T	p.R543C	NRDGSASLLLPSRPAPPRHAPYLVP	NRDGSASLLLPSCPAPPRHAPYLVP	6.0	10.0	-	-	4271_14:23518455-23518455 G>A_NRDGSASLLLPSCPAPPRHAPYLVP
3:39230071-39230071 C>T	0.0	4271	COLON	-	-	-	-	XIRP1	uc003cji.3,p.R289Q|uc003cjk.2,p.R289Q|NM_001198621,p.R289Q|ENST00000340369,p.R289Q|uc021wvz.1,p.R289Q|NM_194293,p.R289Q|ENST00000396251,p.R289Q	protein_coding	uc021wvz.1	nonsynonymous SNV	exon1	c.G866A	p.R289Q	PLDAINQDPSQVRVIRGISLEEGAR	PLDAINQDPSQVQVIRGISLEEGAR	4.0	4.0	-	-	4271_3:39230071-39230071 C>T_PLDAINQDPSQVQVIRGISLEEGAR
11:78381322-78381322 G>A	0.0	4271	COLON	-	-	-	-	TENM4	uc001ozl.4,p.T2023M|uc001ozk.4,p.T248M|NM_001098816,p.T2023M|ENST00000278550,p.T2023M|ENST00000530738,p.T487M	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon32	c.C6068T	p.T2023M	IYKYGKLSKLAETLYDTTKVSFTYD	IYKYGKLSKLAEMLYDTTKVSFTYD	3.0	3.0	-	-	4271_11:78381322-78381322 G>A_IYKYGKLSKLAEMLYDTTKVSFTYD
7:143633137-143633137 A>G	0.0	4271	COLON	-	-	-	-	OR2F2	ENST00000408955,p.E271G|uc011ktv.2,p.E271G|NM_001004685,p.E271G	protein_coding	uc011ktv.2	nonsynonymous SNV	exon1	c.A812G	p.E271G	YIQPHSGPSVLQEKLISVFYAIVMP	YIQPHSGPSVLQGKLISVFYAIVMP	3.0	7.0	-	-	4271_7:143633137-143633137 A>G_YIQPHSGPSVLQGKLISVFYAIVMP
15:34113561-34113561 G>A	0.0	4271	COLON	-	-	-	-	RYR3	uc010bar.3,p.A3631T|NM_001036,p.A3636T|NM_001243996,p.A3631T|ENST00000389232,p.A3636T|uc001zhi.3,p.A3636T|ENST00000415757,p.A3631T	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon78	c.G10891A	p.A3631T	RGAAEMVLQMISASKGEMSPMVVET	RGAAEMVLQMISTSKGEMSPMVVET	2.0	10.0	-	-	4271_15:34113561-34113561 G>A_RGAAEMVLQMISTSKGEMSPMVVET
3:33216480-33216480 C>T	0.0	4271	COLON	-	-	-	-	SUSD5	ENST00000309558,p.V166M|NM_015551,p.V166M|uc003cfo.1,p.V166M	protein_coding	uc003cfo.1	nonsynonymous SNV	exon4	c.G496A	p.V166M	RTGLEMGDELLYVCAPGHIMGHRET	RTGLEMGDELLYMCAPGHIMGHRET	1.0	5.0	-	-	4271_3:33216480-33216480 C>T_RTGLEMGDELLYMCAPGHIMGHRET
7:43548590-43548590 C>T	0.0	4271	COLON	-	-	-	-	HECW1	uc011kbi.1,p.R1263W|ENST00000453890,p.R1263W|NM_015052,p.R1297W|NM_001287059,p.R1263W|ENST00000395891,p.R1297W|uc003tid.1,p.R1297W	protein_coding, processed_transcript	uc011kbi.1	nonsynonymous SNV	exon22	c.C3787T	p.R1263W	VGEEGLDYSGPSREFFFLLSQELFN	VGEEGLDYSGPSWEFFFLLSQELFN	2.0	9.0	-	-	4271_7:43548590-43548590 C>T_VGEEGLDYSGPSWEFFFLLSQELFN
16:9923443-9923443 T>G	0.0	4271	COLON	-	-	-	1	GRIN2A	uc010uyn.2,p.N458T|ENST00000404927,p.N615T|ENST00000396575,p.N615T|ENST00000562109,p.N615T|uc010uym.2,p.N615T|ENST00000330684,p.N615T|NM_001134408,p.N615T|uc002czr.4,p.N615T|NM_000833,p.N615T|uc002czo.4,p.N615T|ENST00000396573,p.N615T|ENST00000535259,p.N458T|NM_001134407,p.N615T	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon8	c.A1373C	p.N458T	KAIWLLWGLVFNNSVPVQNPKGTTS	KAIWLLWGLVFNTSVPVQNPKGTTS	3.0	8.0	-	-	4271_16:9923443-9923443 T>G_KAIWLLWGLVFNTSVPVQNPKGTTS
15:93543785-93543785 A>G	1.0	4271	COLON	-	-	-	2	CHD2	NM_001271,p.K1351R|uc002bso.1,p.K1351R|uc002bsp.3,p.K1351R|ENST00000557381,p.K1351R|ENST00000394196,p.K1351R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bsp.3	nonsynonymous SNV	exon32	c.A4052G	p.K1351R	LKKRKPRVKKENKVPRLKEEHGIEL	LKKRKPRVKKENRVPRLKEEHGIEL	10.0	10.0	-	-	4271_15:93543785-93543785 A>G_LKKRKPRVKKENRVPRLKEEHGIEL
8:143614726-143614726 G>A	0.0	4271	COLON	-	-	ID=COSM3432173;OCCURENCE=1(large_intestine)	-	BAI1	uc003ywm.3,p.V1157I|ENST00000323289,p.V1157I|NM_001702,p.V1157I|ENST00000517894,p.V1157I	retained_intron, protein_coding, nonsense_mediated_decay	uc003ywm.3	nonsynonymous SNV	exon24	c.G3469A	p.V1157I	LLALTWMSAVLAVTDRRSALFQILF	LLALTWMSAVLAITDRRSALFQILF	2.0	6.0	-	-	4271_8:143614726-143614726 G>A_LLALTWMSAVLAITDRRSALFQILF
11:113105875-113105875 C>T	0.0	4271	COLON	-	-	ID=COSM201370;OCCURENCE=1(large_intestine)	-	NCAM1	NM_001076682,p.T595M|ENST00000531817,p.T105M	retained_intron, protein_coding, processed_transcript	NM_001076682	nonsynonymous SNV	exon14	c.C1784T	p.T595M	GLGEISAASEFKTQPVHSPPPPASA	GLGEISAASEFKMQPVHSPPPPASA	4.0	8.0	-	-	4271_11:113105875-113105875 C>T_GLGEISAASEFKMQPVHSPPPPASA
3:44816756-44816756 G>A	1.0	4271	COLON	-	-	-	-	KIF15	uc003cnx.4,p.D25N|ENST00000326047,p.D25N|NM_020242,p.D25N	retained_intron, protein_coding, nonsense_mediated_decay	uc003cnx.4	nonsynonymous SNV	exon3	c.G73A	p.D25N	TNGQSNQPSNEGDAIKVFVRIRPPA	TNGQSNQPSNEGNAIKVFVRIRPPA	8.0	9.0	-	-	4271_3:44816756-44816756 G>A_TNGQSNQPSNEGNAIKVFVRIRPPA
5:140235694-140235694 G>A	0.0	4271	COLON	-	-	ID=COSM1130900,COSM1130899;OCCURENCE=1(prostate)	-	PCDHA10	NM_018901,p.A21T|uc003lhw.2,p.A21T|uc011dad.2,p.A21T|uc003lhx.2,p.A21T|ENST00000506939,p.A21T|NM_031860,p.A21T|NM_031859,p.A21T|ENST00000307360,p.A21T	protein_coding	uc011dad.2	nonsynonymous SNV	exon1	c.G61A	p.A21T	GVQCLLLSLLLLAAWEVGSGQLHYS	GVQCLLLSLLLLTAWEVGSGQLHYS	3.0	3.0	-	-	4271_5:140235694-140235694 G>A_GVQCLLLSLLLLTAWEVGSGQLHYS
15:45393011-45393011 G>A	1.0	4271	COLON	-	-	-	-	DUOX2	uc001zun.3,p.P983S|ENST00000389039,p.P983S|ENST00000603300,p.P983S|NM_014080,p.P983S|uc010bea.3,p.P983S	retained_intron, protein_coding	uc010bea.3	nonsynonymous SNV	exon23	c.C2947T	p.P983S	PGERSHPQGLGPPAPEAPELGGPGL	PGERSHPQGLGPSAPEAPELGGPGL	7.0	9.0	-	-	4271_15:45393011-45393011 G>A_PGERSHPQGLGPSAPEAPELGGPGL
X:99551559-99551559 C>A	1.0	4271	COLON	-	-	-	-	PCDH19	NM_001184880,p.A1055S|ENST00000420881,p.A1007S|uc010nmz.3,p.A1055S|uc004efx.4,p.A1008S|NM_020766,p.A1007S|uc004efw.4,p.A1007S|NM_001105243,p.A1008S|ENST00000255531,p.A1008S|ENST00000373034,p.A1055S	protein_coding, processed_transcript	uc010nmz.3	nonsynonymous SNV	exon6	c.G3163T	p.A1055S	ICSPKVNSVIREAGNGCEAISPVTS	ICSPKVNSVIRESGNGCEAISPVTS	3.0	10.0	-	-	4271_X:99551559-99551559 C>A_ICSPKVNSVIRESGNGCEAISPVTS
20:45170117-45170117 T>G	0.0	4271	COLON	-	-	-	-	OCSTAMP	NM_080721,p.K499N|ENST00000279028,p.K499N|uc010zxu.2,p.K499N	protein_coding	uc010zxu.2	nonsynonymous SNV	exon3	c.A1497C	p.K499N	DALRTESSEGEGKELWSCRDLSCNL	DALRTESSEGEGNELWSCRDLSCNL	3.0	10.0	-	-	4271_20:45170117-45170117 T>G_DALRTESSEGEGNELWSCRDLSCNL
16:67670716-67670716 G>A	1.0	4271	COLON	-	-	-	1	CTCF	uc010cek.3,p.R326Q|NM_001191022,p.R326Q|uc002etl.3,p.R654Q|ENST00000264010,p.R654Q|ENST00000401394,p.R326Q|NM_006565,p.R654Q|uc002etm.1,p.R143Q	retained_intron, protein_coding	uc010cek.3	nonsynonymous SNV	exon9	c.G977A	p.R326Q	TPAPPPAKKRRGRPPGRTNQPKQNQ	TPAPPPAKKRRGQPPGRTNQPKQNQ	9.0	10.0	-	-	4271_16:67670716-67670716 G>A_TPAPPPAKKRRGQPPGRTNQPKQNQ
3:85932471-85932471 G>A	0.0	4271	COLON	-	-	ID=COSM3767580,COSM3767579;OCCURENCE=1(liver)	-	CADM2	ENST00000405615,p.R83H|uc003dqk.3,p.R90H|ENST00000383699,p.R90H|NM_153184,p.R83H|uc003dql.3,p.R83H|ENST00000407528,p.R81H|NM_001167675,p.R90H|NM_001167674,p.R81H|uc003dqj.3,p.R81H	protein_coding, processed_transcript	uc003dql.3	nonsynonymous SNV	exon3	c.G248A	p.R83H	KKALRDNRIELVRASWHELSISVSD	KKALRDNRIELVHASWHELSISVSD	2.0	8.0	-	-	4271_3:85932471-85932471 G>A_KKALRDNRIELVHASWHELSISVSD
18:25573555-25573555 C>T	0.0	4271	COLON	-	-	-	-	CDH2	uc002kwg.2,p.G356D|ENST00000399380,p.G325D|NM_001792,p.G356D|ENST00000269141,p.G356D|uc010xbn.1,p.G325D	protein_coding	uc010xbn.1	nonsynonymous SNV	exon7	c.G974A	p.G325D	QYTLIIQATDMEGNPTYGLSNTATA	QYTLIIQATDMEDNPTYGLSNTATA	4.0	2.0	-	-	4271_18:25573555-25573555 C>T_QYTLIIQATDMEDNPTYGLSNTATA
7:97823021-97823021 ->A	1.0	4271	COLON	-	-	-	-	LMTK2	uc003upd.2,p.H1082fs|ENST00000297293,p.H1082fs|NM_014916,p.H1082fs	protein_coding, processed_transcript	uc003upd.2	frameshift insertion	exon11	c.3245dupA	p.H1082fs	NPVIVISDAGDGHRGTEVTPETFTA	NPVIVISDAGDGQQRHRSDP	8.0	3.0	-	-	4271_7:97823021-97823021 ->A_NPVIVISDAGDGQQRHRSDP
15:41227207-41227207 C>T	1.0	4271	COLON	-	-	ID=COSM433811;OCCURENCE=1(breast)	-	DLL4	NM_019074,p.R378W|ENST00000249749,p.R378W|uc001zng.2,p.R378W	retained_intron, protein_coding	uc001zng.2	nonsynonymous SNV	exon8	c.C1132T	p.R378W	CADSPCFNGGSCRERNQGANYACEC	CADSPCFNGGSCWERNQGANYACEC	7.0	6.0	-	-	4271_15:41227207-41227207 C>T_CADSPCFNGGSCWERNQGANYACEC
17:39458381-39458381 A>C	0.0	4271	COLON	-	-	-	-	KRTAP29-1	uc031rai.1,p.C241W|NM_001257309,p.C241W|ENST00000391353,p.C241W	protein_coding	uc031rai.1	nonsynonymous SNV	exon1	c.T723G	p.C241W	STCVFSSCNTTCCVPSHCQPPHCQL	STCVFSSCNTTCWVPSHCQPPHCQL	3.0	7.0	-	-	4271_17:39458381-39458381 A>C_STCVFSSCNTTCWVPSHCQPPHCQL
11:113105875-113105875 C>T	0.0	4271	COLON	-	-	ID=COSM201370;OCCURENCE=1(large_intestine)	-	NCAM1	ENST00000533760,p.T477M|NM_000615,p.T595M|NM_001242607,p.T631M|ENST00000524665,p.T654M|NM_001242608,p.T595M|NM_181351,p.T605M	retained_intron, protein_coding, processed_transcript	NM_181351	nonsynonymous SNV	exon15	c.C1814T	p.T605M	GLGEISAASEFKTQPVQGEPSAPKL	GLGEISAASEFKMQPVQGEPSAPKL	4.0	8.0	-	-	4271_11:113105875-113105875 C>T_GLGEISAASEFKMQPVQGEPSAPKL
7:12409831-12409831 ->T	0.0	4271	COLON	-	-	ID=COSM1568649;OCCURENCE=1(liver),1(large_intestine)	-	VWDE	ENST00000452576,p.H701fs|ENST00000275358,p.H701fs|uc003ssj.2,p.H701fs|uc011jxm.1,p.H155fs|NM_001135924,p.H701fs	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxm.1	frameshift insertion	exon9	c.462dupA	p.H155fs	EYNLNLFLQEKKHINLTKLGLNVQK	EYNLNLFLQEKKTHKPD	3.0	10.0	-	-	4271_7:12409831-12409831 ->T_EYNLNLFLQEKKTHKPD
3:78719317-78719317 C>A	0.0	4271	COLON	-	-	-	-	ROBO1	NM_002941,p.V493F|ENST00000467549,p.V457F|uc003dqc.2,p.V457F|uc003dqe.2,p.V493F|ENST00000464233,p.V493F|uc003dqb.2,p.V454F|uc003dqd.2,p.V457F|NM_133631,p.V457F|ENST00000495961,p.V26F|ENST00000436010,p.V454F|uc003dqf.1,p.V172F|NM_001145845,p.V457F|uc011bgl.1,p.V65F|ENST00000495273,p.V457F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bgl.1	nonsynonymous SNV	exon1	c.G193T	p.V65F	SPVPTILWRKDGVLVSTQDSRIKQL	SPVPTILWRKDGFLVSTQDSRIKQL	6.0	4.0	-	-	4271_3:78719317-78719317 C>A_SPVPTILWRKDGFLVSTQDSRIKQL
11:17574951-17574951 C>T	0.0	4271	COLON	-	-	-	-	OTOG	uc031pzc.1,p.A154V|NM_001277269,p.A154V|ENST00000399397,p.A81V|ENST00000428619,p.A80V|ENST00000399391,p.A154V|NM_001292063,p.A142V	retained_intron, protein_coding, processed_transcript	uc031pzc.1	nonsynonymous SNV	exon5	c.C461T	p.A154V	YNAGPERDSICRAWGQHHVETFDGL	YNAGPERDSICRVWGQHHVETFDGL	1.0	8.0	-	-	4271_11:17574951-17574951 C>T_YNAGPERDSICRVWGQHHVETFDGL
3:130368395-130368395 C>T	0.0	4271	COLON	-	-	-	-	COL6A6	ENST00000453409,p.R1908C|NM_001102608,p.R1908C|uc010htl.3,p.R1908C|ENST00000358511,p.R1908C	protein_coding, nonsense_mediated_decay	uc010htl.3	nonsynonymous SNV	exon32	c.C5722T	p.R1908C	VVITFSNVPSVRRAFAIDDTGTFQV	VVITFSNVPSVRCAFAIDDTGTFQV	2.0	8.0	-	-	4271_3:130368395-130368395 C>T_VVITFSNVPSVRCAFAIDDTGTFQV
19:39694705-39694705 C>T	0.0	4271	COLON	-	-	-	-	SYCN	NM_001080468,p.A64T|uc002okr.2,p.A64T|ENST00000318438,p.A64T	protein_coding	uc002okr.2	nonsynonymous SNV	exon1	c.G190A	p.A64T	CCGGAELSLESGADLPYLPSNWANT	CCGGAELSLESGTDLPYLPSNWANT	2.0	1.0	-	-	4271_19:39694705-39694705 C>T_CCGGAELSLESGTDLPYLPSNWANT
1:228333736-228333736 G>A	1.0	4271	COLON	-	-	-	-	GUK1	ENST00000412265,p.R107K|NM_001242839,p.R41K|ENST00000366726,p.R41K|ENST00000391865,p.R62K|ENST00000366730,p.R41K|NM_001242840,p.R62K|NM_001159391,p.R41K|uc010pvv.2,p.R41K|uc021pke.1,p.R41K|uc001hsh.3,p.R41K|ENST00000366728,p.R62K|ENST00000453943,p.R62K|NM_000858,p.R41K|NM_001159390,p.R62K|uc021pkf.1,p.R62K|ENST00000312726,p.R41K|ENST00000366716,p.R41K|ENST00000366722,p.R41K|uc001hsi.3,p.R62K|ENST00000366718,p.R41K|ENST00000366723,p.R62K	protein_coding, processed_transcript	uc021pkf.1	nonsynonymous SNV	exon3	c.G185A	p.R62K	SGIFGFSVSHTTRNPRPGEENGKDY	SGIFGFSVSHTTKNPRPGEENGKDY	10.0	9.0	-	-	4271_1:228333736-228333736 G>A_SGIFGFSVSHTTKNPRPGEENGKDY
2:40657237-40657237 G>A	1.0	4271	COLON	-	-	-	-	SLC8A1	ENST00000332839,p.P62S|NM_001252624,p.P62S|ENST00000405269,p.P62S|uc002rry.3,p.P62S|uc002rsc.1,p.P62S|uc002rrx.3,p.P62S|ENST00000542756,p.P62S|uc002rrz.3,p.P62S|ENST00000402441,p.P62S|NM_021097,p.P62S|uc010fan.1,p.P62S|ENST00000455476,p.P62S|uc002rsd.4,p.P62S|NM_001112801,p.P62S|ENST00000542024,p.P62S|ENST00000406785,p.P62S|NM_001112802,p.P62S|uc002rsb.2,p.P62S|ENST00000403092,p.P62S|ENST00000408028,p.P62S|ENST00000407929,p.P59S|ENST00000448531,p.P62S|uc002rsa.3,p.P62S|ENST00000406391,p.P62S|NM_001112800,p.P62S|ENST00000405901,p.P62S	protein_coding, nonsense_mediated_decay	uc010fan.1	nonsynonymous SNV	exon3	c.C184T	p.P62S	TGSYYCKKGVILPIWEPQDPSFGDK	TGSYYCKKGVILSIWEPQDPSFGDK	6.0	7.0	-	-	4271_2:40657237-40657237 G>A_TGSYYCKKGVILSIWEPQDPSFGDK
22:37769741-37769741 G>T	0.0	4271	COLON	-	-	-	-	ELFN2	NM_052906,p.H612N|uc003asq.4,p.H612N|uc021wph.1,p.H612N|ENST00000349653,p.H612N|ENST00000402918,p.H612N	protein_coding	uc021wph.1	nonsynonymous SNV	exon1	c.C1834A	p.H612N	SFLSPPYKESSHHPLQRQLSADAAV	SFLSPPYKESSHNPLQRQLSADAAV	2.0	8.0	-	-	4271_22:37769741-37769741 G>T_SFLSPPYKESSHNPLQRQLSADAAV
10:78868281-78868281 C>T	0.0	4271	COLON	-	-	-	-	KCNMA1	uc001jxl.1,p.R48H|uc021ptu.1,p.R340H|ENST00000286628,p.R394H|uc001jxq.3,p.R394H|NM_002247,p.R394H|ENST00000372437,p.R329H|ENST00000604624,p.R255H|uc009xrt.1,p.R214H|ENST00000406533,p.R394H|ENST00000404857,p.R394H|uc001jxm.3,p.R394H|ENST00000354353,p.R394H|NM_001161353,p.R394H|uc001jxo.3,p.R394H|ENST00000457953,p.R368H|ENST00000372440,p.R394H|NM_001014797,p.R394H|uc001jxn.3,p.R394H|NM_001271519,p.R394H|ENST00000372443,p.R394H|ENST00000404771,p.R394H|NM_001271518,p.R340H|ENST00000286627,p.R394H|uc001jxj.2,p.R394H|NM_001161352,p.R394H|ENST00000372408,p.R331H	protein_coding, processed_transcript	uc021ptu.1	nonsynonymous SNV	exon8	c.G1019A	p.R340H	SYVPEIIELIGNRKKYGGSYSAVSG	SYVPEIIELIGNHKKYGGSYSAVSG	5.0	7.0	-	-	4271_10:78868281-78868281 C>T_SYVPEIIELIGNHKKYGGSYSAVSG
7:123152211-123152211 C>T	0.0	4271	COLON	-	-	-	-	IQUB	ENST00000466202,p.E62K|uc003vkq.2,p.E62K|ENST00000434450,p.E62K|uc003vkp.1,p.E62K|uc003vkn.3,p.E62K|ENST00000469057,p.E62K|uc003vko.3,p.E62K|NM_001282855,p.E62K|ENST00000484508,p.E62K|ENST00000324698,p.E62K|NM_178827,p.E62K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vkq.2	nonsynonymous SNV	exon2	c.G184A	p.E62K	EQFSESHAIHVEEQSDQSFSSLEPD	EQFSESHAIHVEKQSDQSFSSLEPD	1.0	8.0	-	-	4271_7:123152211-123152211 C>T_EQFSESHAIHVEKQSDQSFSSLEPD
5:93753059-93753059 C>T	0.0	4271	COLON	-	-	-	-	KIAA0825	uc011cuk.2,p.D837N|ENST00000427991,p.D837N|NM_001145678,p.D837N|ENST00000513200,p.D837N	retained_intron, protein_coding, processed_transcript	uc011cuk.2	nonsynonymous SNV	exon15	c.G2509A	p.D837N	LRILLKSSKQVSDTENNLNQGPSLM	LRILLKSSKQVSNTENNLNQGPSLM	4.0	8.0	-	-	4271_5:93753059-93753059 C>T_LRILLKSSKQVSNTENNLNQGPSLM
11:93844124-93844124 C>T	0.0	4271	COLON	-	-	-	-	HEPHL1	uc001pep.2,p.T1034I|ENST00000315765,p.T1034I|NM_001098672,p.T1034I	protein_coding	uc001pep.2	nonsynonymous SNV	exon18	c.C3101T	p.T1034I	EDVYDLFPGTFQTIELFADHPGTWL	EDVYDLFPGTFQIIELFADHPGTWL	1.0	2.0	-	-	4271_11:93844124-93844124 C>T_EDVYDLFPGTFQIIELFADHPGTWL
17:3658467-3658467 A>G	0.0	4271	COLON	-	-	-	-	ITGAE	NM_002208,p.L443P|ENST00000263087,p.L443P|uc002fwo.4,p.L443P	retained_intron, protein_coding, processed_transcript	uc002fwo.4	nonsynonymous SNV	exon12	c.T1328C	p.L443P	LLYDTRSRRGRFLNQTAAAAADAEA	LLYDTRSRRGRFPNQTAAAAADAEA	7.0	1.0	-	-	4271_17:3658467-3658467 A>G_LLYDTRSRRGRFPNQTAAAAADAEA
14:88477845-88477845 C>A	0.0	4271	COLON	-	-	-	-	GPR65	uc021rxh.1,p.N218K|uc001xvv.3,p.N218K|NM_003608,p.N218K|ENST00000267549,p.N218K	protein_coding	uc021rxh.1	nonsynonymous SNV	exon1	c.C654A	p.N218K	VYQAVRHNKATENKEKKRIIKLLVS	VYQAVRHNKATEKKEKKRIIKLLVS	5.0	8.0	-	-	4271_14:88477845-88477845 C>A_VYQAVRHNKATEKKEKKRIIKLLVS
22:16277824-16277824 G>T	1.0	4271	COLON	-	-	-	-	POTEH	uc010gqp.2,p.Q364K|uc002zlh.1,p.Q83K|uc002zlj.1,p.Q199K|ENST00000343518,p.Q364K|NM_001136213,p.Q364K	protein_coding, nonsense_mediated_decay	uc010gqp.2	nonsynonymous SNV	exon5	c.C1090A	p.Q364K	CGSASIVSLLLEQNIDVSSQDLSGQ	CGSASIVSLLLEKNIDVSSQDLSGQ	4.0	2.0	-	-	4271_22:16277824-16277824 G>T_CGSASIVSLLLEKNIDVSSQDLSGQ
9:35736659-35736659 G>A	1.0	4271	COLON	-	-	-	-	CREB3	ENST00000353704,p.R351K|NM_006368,p.R351K|uc003zxv.3,p.R351K|uc010mla.3,p.R270K	protein_coding, processed_transcript	uc010mla.3	nonsynonymous SNV	exon8	c.G809A	p.R270K	RGPILPLQANLTRKGGWLPTGSPSV	RGPILPLQANLTKKGGWLPTGSPSV	7.0	2.0	-	-	4271_9:35736659-35736659 G>A_RGPILPLQANLTKKGGWLPTGSPSV
12:29630073-29630073 G>T	0.0	4271	COLON	-	-	-	-	OVCH1	NM_183378,p.H447N|uc001rix.1,p.H447N|ENST00000318184,p.H447N	protein_coding, nonsense_mediated_decay	uc001rix.1	nonsynonymous SNV	exon12	c.C1339A	p.H447N	KYPDLYPSNIRCHWFICAPEKHIIK	KYPDLYPSNIRCNWFICAPEKHIIK	1.0	5.0	-	Snp within 36 nucleotides, 12:29630081-29630081 C>T, residue 10 T>I PR	4271_12:29630073-29630073 G>T_KYPDLYPSNIRCNWFICAPEKHIIK
11:134182283-134182283 C>T	0.0	4271	COLON	-	-	-	-	GLB1L3	NM_001080407,p.P443L|uc009zdf.3,p.P443L|ENST00000431683,p.P443L	retained_intron, protein_coding, nonsense_mediated_decay	uc009zdf.3	nonsynonymous SNV	exon14	c.C1328T	p.P443L	VRSRQPVNMENLPINNGSGQSYGLV	VRSRQPVNMENLLINNGSGQSYGLV	4.0	7.0	-	-	4271_11:134182283-134182283 C>T_VRSRQPVNMENLLINNGSGQSYGLV
3:123419230-123419230 C>T	1.0	4271	COLON	-	-	-	-	MYLK	ENST00000359169,p.A1029T|NM_053026,p.A960T|uc011bjw.2,p.A1029T|NM_053025,p.A1029T|ENST00000360772,p.A1029T|uc003ego.3,p.A1029T|ENST00000475616,p.A1029T|uc003egs.3,p.A853T|uc003egq.3,p.A1029T|uc003egr.3,p.A960T|uc003egt.3,p.A220T|ENST00000346322,p.A960T|NM_053028,p.A960T|ENST00000360304,p.A1029T|uc003egp.3,p.A960T|NM_053027,p.A1029T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bjw.2	nonsynonymous SNV	exon15	c.G3085A	p.A1029T	AQPSGPLKPVGNAKPAETLKPMGNA	AQPSGPLKPVGNTKPAETLKPMGNA	8.0	7.0	-	-	4271_3:123419230-123419230 C>T_AQPSGPLKPVGNTKPAETLKPMGNA
16:2230664-2230664 G>A	0.0	4271	COLON	-	-	-	-	CASKIN1	ENST00000343516,p.A902V|uc010bsg.1,p.A902V|NM_020764,p.A902V	retained_intron, protein_coding, processed_transcript	uc010bsg.1	nonsynonymous SNV	exon18	c.C2705T	p.A902V	DSEPERDELLVPAAAGPYATVQRRV	DSEPERDELLVPVAAGPYATVQRRV	3.0	6.0	-	-	4271_16:2230664-2230664 G>A_DSEPERDELLVPVAAGPYATVQRRV
10:116045754-116045754 G>A	0.0	4271	COLON	-	-	-	-	VWA2	ENST00000603594,p.A352T|uc009xyf.2,p.A48T|uc031pxh.1,p.A352T|uc001lbl.2,p.A352T|ENST00000392982,p.A352T|uc001lbk.2,p.A352T|NM_001272046,p.A352T	protein_coding	uc031pxh.1	nonsynonymous SNV	exon10	c.G1054A	p.A352T	CRVDLLFLLDSSAGTTLDGFLRAKV	CRVDLLFLLDSSTGTTLDGFLRAKV	4.0	5.0	-	-	4271_10:116045754-116045754 G>A_CRVDLLFLLDSSTGTTLDGFLRAKV
14:69792727-69792727 G>A	1.0	4271	COLON	0.0005	-	ID=COSM957303;OCCURENCE=1(endometrium)	-	GALNT16	ENST00000553471,p.R184H|ENST00000337827,p.R184H|uc010aqu.2,p.R184H|ENST00000448469,p.R184H|uc001xlb.2,p.R184H|ENST00000553669,p.R184H|uc001xla.2,p.R184H|NM_001168368,p.R184H|NM_020692,p.R184H	protein_coding, processed_transcript, nonsense_mediated_decay	uc010aqu.2	nonsynonymous SNV	exon5	c.G551A	p.R184H	LLLTRIPKVKCLRNDRREGLIRSRV	LLLTRIPKVKCLHNDRREGLIRSRV	5.0	4.0	-	-	4271_14:69792727-69792727 G>A_LLLTRIPKVKCLHNDRREGLIRSRV
22:32546985-32546985 C>T	1.0	4271	COLON	-	-	-	-	C22orf42	NM_001010859,p.D163N|ENST00000382097,p.D163N|uc003amd.3,p.D163N	retained_intron, protein_coding, processed_transcript	uc003amd.3	nonsynonymous SNV	exon6	c.G487A	p.D163N	ITSDIEISEAKHDHHLVEDLSESLS	ITSDIEISEAKHNHHLVEDLSESLS	2.0	4.0	-	-	4271_22:32546985-32546985 C>T_ITSDIEISEAKHNHHLVEDLSESLS
5:36971097-36971097 A>G	1.0	4271	COLON	-	-	-	-	NIPBL	ENST00000448238,p.S244G|uc003jkm.1,p.S123G|uc003jkk.4,p.S244G|NM_015384,p.S244G|ENST00000282516,p.S244G|uc003jkl.4,p.S244G|NM_133433,p.S244G	retained_intron, protein_coding, processed_transcript	uc003jkm.1	nonsynonymous SNV	exon3	c.A367G	p.S123G	ANHHADNPRHGSSEDYLHMVHRLSS	ANHHADNPRHGSGEDYLHMVHRLSS	9.0	2.0	-	-	4271_5:36971097-36971097 A>G_ANHHADNPRHGSGEDYLHMVHRLSS
5:112154725-112154725 A>-	1.0	4271	COLON	-	-	-	1	APC	ENST00000508376,p.R332fs|uc010jbz.3,p.R49fs|ENST00000257430,p.R332fs|uc003kpy.4,p.R332fs|NM_000038,p.R332fs|ENST00000507379,p.R314fs|ENST00000512211,p.R332fs|NM_001127510,p.R332fs|uc003kpz.4,p.R332fs|ENST00000457016,p.R332fs|uc011cvt.2,p.R314fs|NM_001127511,p.R314fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	frameshift deletion	exon8	c.942delA	p.R314fs	SMLGTHDKDDMSRTLLAMSSSQDSC	SMLGTHDKDDMSRLC	7.0	6.0	-	-	4271_5:112154725-112154725 A>-_SMLGTHDKDDMSRLC
7:142832313-142832313 A>G	0.0	4271	COLON	-	-	-	-	PIP	uc003wcf.1,p.D41G|ENST00000291009,p.D41G|NM_002652,p.D41G	protein_coding	uc003wcf.1	nonsynonymous SNV	exon2	c.A122G	p.D41G	QDNTRKIIIKNFDIPKSVRPNDEVT	QDNTRKIIIKNFGIPKSVRPNDEVT	3.0	5.0	-	-	4271_7:142832313-142832313 A>G_QDNTRKIIIKNFGIPKSVRPNDEVT
19:9069660-9069662 GAA>-	0.0	4271	COLON	-	-	-	2	MUC16	uc002mkp.3,p.5928_5929del|ENST00000397910,p.5928_5929del|NM_024690,p.5928_5929del	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonframeshift deletion	exon3	c.17784_17786del	p.5928_5929del	QSPPSVEETSSPSSPVPLPAITSHS	QSPPSVEETSSPSPVPLPAITSHSS	4.0	2.0	-	-	4271_19:9069660-9069662 GAA>-_QSPPSVEETSSPSPVPLPAITSHSS
11:18050780-18050780 A>T	0.0	4271	COLON	-	-	-	-	TPH1	NM_004179,p.L200H|ENST00000341556,p.L200H|uc001mnp.2,p.L200H|ENST00000250018,p.L200H	protein_coding, processed_transcript, nonsense_mediated_decay	uc001mnp.2	nonsynonymous SNV	exon5	c.T599A	p.L200H	HACREYLKNLPLLSKYCGYREDNIP	HACREYLKNLPLHSKYCGYREDNIP	5.0	3.0	-	-	4271_11:18050780-18050780 A>T_HACREYLKNLPLHSKYCGYREDNIP
19:7696615-7696615 C>T	0.0	4271	COLON	0.0005	-	-	-	PCP2	uc031rjd.1,p.R108H|NM_174895,p.R124H|ENST00000598935,p.R108H|uc002mgz.4,p.R124H|ENST00000311069,p.R124H|NM_001271830,p.R108H	protein_coding	uc031rjd.1	nonsynonymous SNV	exon4	c.G323A	p.R108H	LLTPQDPTALGFRRNSSPQPPTQAP	LLTPQDPTALGFHRNSSPQPPTQAP	2.0	5.0	-	-	4271_19:7696615-7696615 C>T_LLTPQDPTALGFHRNSSPQPPTQAP
20:61637750-61637750 C>T	0.0	4271	COLON	-	-	-	-	BHLHE23	NM_080606,p.R126Q|ENST00000370346,p.R110Q|uc002yeb.2,p.R110Q	protein_coding	uc002yeb.2	nonsynonymous SNV	exon1	c.G329A	p.R110Q	QRSLRLSINARERRRMHDLNDALDG	QRSLRLSINAREQRRMHDLNDALDG	2.0	4.0	-	-	4271_20:61637750-61637750 C>T_QRSLRLSINAREQRRMHDLNDALDG
7:128355600-128355600 A>C	0.0	4271	COLON	-	-	-	-	FAM71F1	ENST00000471558,p.E35D|ENST00000483459,p.E35D|uc003vnp.1,p.E35D|ENST00000315184,p.E35D|NM_032599,p.E35D|NM_001282788,p.E35D|uc003vno.1,p.E35D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vnp.1	nonsynonymous SNV	exon1	c.A105C	p.E35D	SYPTFPSLNAWEEFRGLLPVDGEPN	SYPTFPSLNAWEDFRGLLPVDGEPN	1.0	2.0	-	-	4271_7:128355600-128355600 A>C_SYPTFPSLNAWEDFRGLLPVDGEPN
5:154396783-154396783 C>T	1.0	4271	COLON	0.0005	-	-	-	KIF4B	ENST00000435029,p.R1122C|NM_001099293,p.R1122C|uc010jih.1,p.R1122C	protein_coding	uc010jih.1	nonsynonymous SNV	exon1	c.C3364T	p.R1122C	VDCSCDPTKCRNRQQGKDSLGTVEQ	VDCSCDPTKCRNCQQGKDSLGTVEQ	4.0	3.0	-	-	4271_5:154396783-154396783 C>T_VDCSCDPTKCRNCQQGKDSLGTVEQ
12:118199228-118199228 G>A	0.0	4271	COLON	-	-	-	-	KSR2	ENST00000425217,p.R163C|ENST00000339824,p.R192C|uc001two.2,p.R163C|NM_173598,p.R163C	retained_intron, protein_coding, processed_transcript	uc001two.2	nonsynonymous SNV	exon4	c.C487T	p.R163C	NPVCPPEPTPWIRTHLSQSPRVPSK	NPVCPPEPTPWICTHLSQSPRVPSK	4.0	1.0	-	-	4271_12:118199228-118199228 G>A_NPVCPPEPTPWICTHLSQSPRVPSK
21:47581957-47581957 T>C	0.0	4271	COLON	-	-	-	-	SPATC1L	NM_001142854,p.E190G|ENST00000291672,p.E190G|NM_032261,p.E36G|uc011afu.2,p.E190G|uc002zii.3,p.E36G|ENST00000330205,p.E36G	protein_coding	uc011afu.2	nonsynonymous SNV	exon4	c.A569G	p.E190G	YYLNEIQSFAGAEKDARVVGEIAFQ	YYLNEIQSFAGAGKDARVVGEIAFQ	5.0	2.0	-	-	4271_21:47581957-47581957 T>C_YYLNEIQSFAGAGKDARVVGEIAFQ
X:70368701-70368701 C>T	0.0	4271	COLON	-	-	-	-	NLGN3	NM_181303,p.R155W|ENST00000358741,p.R155W|uc004dzd.2,p.R155W	protein_coding, processed_transcript	uc004dzd.2	nonsynonymous SNV	exon3	c.C463T	p.R155W	YLNVYVPTEDVKRISKECARKPNKK	YLNVYVPTEDVKWISKECARKPNKK	4.0	3.0	-	-	4271_X:70368701-70368701 C>T_YLNVYVPTEDVKWISKECARKPNKK
2:166246309-166246309 A>C	0.0	4271	COLON	-	-	-	-	SCN2A	uc002udc.3,p.K1998T|NM_001040142,p.K1998T|ENST00000283256,p.K1998T|ENST00000375427,p.K1998T|uc002udd.3,p.K1998T|ENST00000357398,p.K1998T|NM_021007,p.K1998T|uc002ude.3,p.K1998T|uc021vry.1,p.K498T|ENST00000375437,p.K1998T|NM_001040143,p.K1998T	retained_intron, protein_coding	uc021vry.1	nonsynonymous SNV	exon3	c.A1493C	p.K498T	FEKDKSEKEDKGKDIRESKK	FEKDKSEKEDKGTDIRESKK	4.0	4.0	-	-	4271_2:166246309-166246309 A>C_FEKDKSEKEDKGTDIRESKK
X:106186368-106186368 T>C	1.0	4283	COLON	-	-	-	-	MORC4	ENST00000355610,p.T585A|uc004emu.4,p.T585A|uc004emw.4,p.T333A|NM_001085354,p.T585A|NM_024657,p.T585A|uc004emv.4,p.T585A|ENST00000255495,p.T585A|ENST00000535534,p.T333A	retained_intron, protein_coding	uc004emw.4	nonsynonymous SNV	exon14	c.A997G	p.T333A	VEKRRRLQNEMTTPSLDYSMPAPYR	VEKRRRLQNEMTAPSLDYSMPAPYR	8.0	3.0	-	-	4283_X:106186368-106186368 T>C_VEKRRRLQNEMTAPSLDYSMPAPYR
1:42660609-42660609 A>C	1.0	4283	COLON	-	-	-	-	FOXJ3	uc001chg.3,p.F296V|ENST00000361346,p.F296V|NM_014947,p.F296V|uc001chh.2,p.F262V|ENST00000372573,p.F296V|NM_001198851,p.F296V|ENST00000545068,p.F296V|uc001chf.3,p.F296V|uc001che.3,p.F296V|ENST00000372572,p.F296V|NM_001198850,p.F296V|NM_001198852,p.F262V|ENST00000361776,p.F262V|ENST00000445886,p.F262V	protein_coding	uc001chh.2	nonsynonymous SNV	exon7	c.T784G	p.F262V	FSEYNFEDLSASFRSLYKSVFEQSL	FSEYNFEDLSASVRSLYKSVFEQSL	8.0	6.0	-	-	4283_1:42660609-42660609 A>C_FSEYNFEDLSASVRSLYKSVFEQSL
11:62415025-62415025 G>A	1.0	4283	COLON	-	-	-	-	INTS5	ENST00000330574,p.R843W|NM_030628,p.R843W|uc001nud.3,p.R843W	protein_coding	uc001nud.3	nonsynonymous SNV	exon2	c.C2527T	p.R843W	WPPEEHARATVERDLRIGRRFREQP	WPPEEHARATVEWDLRIGRRFREQP	7.0	7.0	-	-	4283_11:62415025-62415025 G>A_WPPEEHARATVEWDLRIGRRFREQP
19:21910281-21910281 G>A	1.0	4283	COLON	-	-	-	-	ZNF100	uc002nqh.3,p.T214I|ENST00000358296,p.T278I|ENST00000305570,p.T214I|uc002nqi.3,p.T278I|NM_173531,p.T278I	protein_coding, processed_transcript	uc002nqi.3	nonsynonymous SNV	exon5	c.C833T	p.T278I	CGKAFNRSSHLTTHKIIHTGEKPYR	CGKAFNRSSHLTIHKIIHTGEKPYR	10.0	2.0	unscreened	-	4283_19:21910281-21910281 G>A_CGKAFNRSSHLTIHKIIHTGEKPYR
10:123549781-123549781 C>A	1.0	4283	COLON	-	-	-	-	ATE1	uc010qtt.2,p.L420F|ENST00000369043,p.L427F|uc001lfp.3,p.L427F|ENST00000540606,p.L420F|uc001lfq.3,p.L427F|NM_007041,p.L427F|ENST00000535655,p.L128F|ENST00000369040,p.L331F|NM_001001976,p.L427F|uc010qts.2,p.L331F|ENST00000543447,p.L312F|uc010qtr.2,p.L312F|ENST00000224652,p.L427F|NM_001288736,p.L420F|NM_001288734,p.L312F|NM_001288735,p.L331F	protein_coding, processed_transcript	uc010qtt.2	nonsynonymous SNV	exon11	c.G1260T	p.L420F	KMKYKGQYRPSDLLCPETYVWVPIE	KMKYKGQYRPSDFLCPETYVWVPIE	8.0	6.0	-	-	4283_10:123549781-123549781 C>A_KMKYKGQYRPSDFLCPETYVWVPIE
5:178310910-178310910 G>A	1.0	4283	COLON	-	-	-	-	ZNF354B	ENST00000322434,p.R486K|uc003mjm.3,p.R486K|uc003mjl.3,p.R486K|NM_058230,p.R486K	protein_coding, processed_transcript	uc003mjm.3	nonsynonymous SNV	exon4	c.G1457A	p.R486K	AFRQSSALIQHQRMHTGERPYKCNE	AFRQSSALIQHQKMHTGERPYKCNE	6.0	5.0	-	-	4283_5:178310910-178310910 G>A_AFRQSSALIQHQKMHTGERPYKCNE
4:42457393-42457393 C>G	1.0	4283	COLON	-	-	-	-	ATP8A1	ENST00000381668,p.R913T|uc003gwr.2,p.R913T|NM_006095,p.R913T|NM_001105529,p.R898T|uc003gwq.2,p.R139T|ENST00000264449,p.R898T|uc003gws.2,p.R898T	retained_intron, protein_coding, nonsense_mediated_decay	uc003gws.2	nonsynonymous SNV	exon28	c.G2693C	p.R898T	TAMPPLTLGIFERSCRKENMLKYPE	TAMPPLTLGIFETSCRKENMLKYPE	7.0	5.0	-	-	4283_4:42457393-42457393 C>G_TAMPPLTLGIFETSCRKENMLKYPE
18:12363848-12363848 C>A	1.0	4283	COLON	-	-	-	-	AFG3L2	NM_006796,p.R187I|uc002kqz.2,p.R187I|ENST00000269143,p.R187I	retained_intron, protein_coding	uc002kqz.2	nonsynonymous SNV	exon6	c.G560T	p.R187I	FVNNYLSKGVVDRLEVVNKRFVRVT	FVNNYLSKGVVDILEVVNKRFVRVT	10.0	3.0	-	-	4283_18:12363848-12363848 C>A_FVNNYLSKGVVDILEVVNKRFVRVT
16:81944246-81944246 G>A	1.0	4283	COLON	-	-	-	-	PLCG2	NM_002661,p.E619K|uc010chg.1,p.E619K|uc002fgt.3,p.E619K|ENST00000359376,p.E619K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010chg.1	nonsynonymous SNV	exon17	c.G1855A	p.E619K	FSSIYALIQHYRETHLRCAEFELRL	FSSIYALIQHYRKTHLRCAEFELRL	7.0	9.0	-	-	4283_16:81944246-81944246 G>A_FSSIYALIQHYRKTHLRCAEFELRL
12:57484937-57484937 G>T	1.0	4283	COLON	-	-	-	1	NAB2	ENST00000300131,p.R38L|uc001smz.3,p.R38L|ENST00000342556,p.R38L|NM_005967,p.R38L|ENST00000357680,p.R38L	retained_intron, protein_coding, processed_transcript	uc001smz.3	nonsynonymous SNV	exon2	c.G113T	p.R38L	RLKPSARAMALPRTLGELQLYRVLQ	RLKPSARAMALPLTLGELQLYRVLQ	5.0	9.0	-	-	4283_12:57484937-57484937 G>T_RLKPSARAMALPLTLGELQLYRVLQ
14:24658900-24658900 G>A	1.0	4283	COLON	-	-	-	-	TM9SF1	ENST00000532632,p.H82Y	 nonsense_mediated_decay,retained_intron,protein_coding, protein_coding	ENST00000532632	nonsynonymous SNV	exon4	c.C244T	p.H82Y	LCLRHPAECGGLHLHCTHLLPVVWG	LCLRHPAECGGLYLHCTHLLPVVWG	8.0	7.0	unscreened	-	4283_14:24658900-24658900 G>A_LCLRHPAECGGLYLHCTHLLPVVWG
2:25470917-25470917 G>A	1.0	4283	COLON	-	-	-	1	DNMT3A	ENST00000402667,p.P59S|ENST00000380746,p.P93S|uc002rgd.4,p.P282S|ENST00000321117,p.P282S|ENST00000264709,p.P282S|uc002rgb.4,p.P93S|ENST00000380756,p.P282S|NM_153759,p.P93S|NM_175629,p.P282S|NM_022552,p.P282S|uc002rgc.4,p.P282S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rgd.4	nonsynonymous SNV	exon7	c.C844T	p.P282S	GDKNATKAGDDEPEYEDGRGFGIGE	GDKNATKAGDDESEYEDGRGFGIGE	8.0	9.0	CD8	-	4283_2:25470917-25470917 G>A_GDKNATKAGDDESEYEDGRGFGIGE
1:119575701-119575701 C>T	1.0	4283	COLON	-	-	ID=COSM1270336;OCCURENCE=1(oesophagus)	-	WARS2	uc010oxg.2,p.V249M|ENST00000235521,p.V306M|uc001ehn.3,p.V306M|NM_015836,p.V306M|uc010oxf.2,p.V212M|ENST00000537870,p.V212M	protein_coding, processed_transcript	uc010oxg.2	nonsynonymous SNV	exon6	c.G745A	p.V249M	SAGMNTARYKLAVADAVIEKFAPIK	SAGMNTARYKLAMADAVIEKFAPIK	8.0	7.0	-	-	4283_1:119575701-119575701 C>T_SAGMNTARYKLAMADAVIEKFAPIK
14:57051728-57051728 T>A	1.0	4283	COLON	-	-	-	-	TMEM260	ENST00000556810,p.I20N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000556810	nonsynonymous SNV	exon3	c.T59A	p.I20N	PDPAKDHCNGELITAAHELGVAHPP	PDPAKDHCNGELNTAAHELGVAHPP	8.0	1.0	-	-	4283_14:57051728-57051728 T>A_PDPAKDHCNGELNTAAHELGVAHPP
14:57051728-57051728 T>A	1.0	4283	COLON	-	-	-	-	TMEM260	NM_017799,p.I57N|uc010aot.1,p.I57N|ENST00000539559,p.I57N|ENST00000261556,p.I57N|ENST00000555497,p.I57N|uc001xcm.3,p.I57N|ENST00000538838,p.I57N|uc001xck.3,p.I57N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010aot.1	nonsynonymous SNV	exon2	c.T170A	p.I57N	PPSVPGGDSGELITAAHELGVAHPP	PPSVPGGDSGELNTAAHELGVAHPP	8.0	1.0	-	-	4283_14:57051728-57051728 T>A_PPSVPGGDSGELNTAAHELGVAHPP
2:231331882-231331882 C>T	1.0	4283	COLON	-	-	-	-	SP100	uc002vqq.2,p.P415S|NM_001080391,p.P415S|ENST00000341950,p.P415S|ENST00000340126,p.P415S|NM_001206702,p.P415S|ENST00000264052,p.P415S|uc002vqs.3,p.P415S|uc002vqv.2,p.P380S|NM_001206701,p.P415S|NM_001206703,p.P390S|NM_003113,p.P415S|ENST00000409824,p.P390S|ENST00000409112,p.P415S|ENST00000427101,p.P390S|ENST00000409341,p.P415S|uc010zmc.2,p.P390S|uc002vqt.3,p.P415S|uc002vqu.1,p.P415S|NM_001206704,p.P380S|ENST00000452345,p.P80S|ENST00000409897,p.P380S	retained_intron, protein_coding	uc010zmc.2	nonsynonymous SNV	exon12	c.C1168T	p.P390S	DHDFSESSEEEAPAEASSGALRSKH	DHDFSESSEEEASAEASSGALRSKH	9.0	4.0	-	-	4283_2:231331882-231331882 C>T_DHDFSESSEEEASAEASSGALRSKH
16:4855283-4855283 T>G	1.0	4283	COLON	-	-	-	-	GLYR1	NM_032569,p.Q539P|ENST00000381983,p.Q522P|uc002cxz.1,p.Q453P|uc010uxv.1,p.Q458P|ENST00000591451,p.Q533P|uc002cya.2,p.Q533P|uc002cxx.4,p.Q539P|ENST00000436648,p.Q458P|ENST00000321919,p.Q539P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uxv.1	nonsynonymous SNV	exon15	c.A1373C	p.Q458P	ANEVYKRAKALDQSDNDMSAVYRAY	ANEVYKRAKALDPSDNDMSAVYRAY	10.0	1.0	-	-	4283_16:4855283-4855283 T>G_ANEVYKRAKALDPSDNDMSAVYRAY
17:7578406-7578406 C>T	1.0	4283	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	uc002gih.3,p.R175H|uc010vug.3,p.R136H|ENST00000269305,p.R175H|NM_001276697,p.R16H|NM_001126117,p.R43H|NM_001126112,p.R175H|ENST00000445888,p.R175H|ENST00000514944,p.R82H|NM_001126114,p.R175H|NM_001276695,p.R136H|NM_001276698,p.R16H|NM_001276760,p.R136H|uc002gig.1,p.R175H|uc031qyq.1,p.R136H|ENST00000359597,p.R175H|ENST00000413465,p.R175H|NM_001276699,p.R16H|uc002gin.3,p.R82H|NM_001126115,p.R43H|ENST00000509690,p.R43H|ENST00000420246,p.R175H|NM_000546,p.R175H|NM_001126118,p.R136H|NM_001276696,p.R136H|NM_001276761,p.R136H|uc010cnf.2,p.R16H|ENST00000455263,p.R175H|NM_001126116,p.R43H|uc010cng.2,p.R16H|uc002gij.3,p.R136H|uc002gio.3,p.R43H|NM_001126113,p.R175H|uc002gii.2,p.R16H	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon4	c.G407A	p.R136H	YKQSQHMTEVVRRCPHHERCSDSDG	YKQSQHMTEVVRHCPHHERCSDSDG	10.0	10.0	-	-	4283_17:7578406-7578406 C>T_YKQSQHMTEVVRHCPHHERCSDSDG
7:139060859-139060859 ->TCACCT	0.0	4283	COLON	-	-	-	-	C7orf55-LUC7L2,LUC7L2	ENST00000456182,p.V62delinsVTF	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000456182	nonframeshift insertion	exon3	c.184_185insTCACCT	p.V62delinsVTF	NESNSVMTEYARVTFSTVVLMMSFL	NESNSVMTEYARVTFTFSTVVLMMS	9.0	1.0	-	-	4283_7:139060859-139060859 ->TCACCT_NESNSVMTEYARVTFTFSTVVLMMS
4:85731265-85731265 T>G	1.0	4283	COLON	-	-	-	-	WDFY3	uc003hpd.3,p.K707T|NM_014991,p.K707T|uc003hpf.3,p.K707T|ENST00000295888,p.K707T|ENST00000322366,p.K707T	retained_intron, protein_coding, processed_transcript	uc003hpf.3	nonsynonymous SNV	exon12	c.A2120C	p.K707T	AMRYEPANSHFFKTEIQYEKLADAV	AMRYEPANSHFFTTEIQYEKLADAV	8.0	10.0	-	-	4283_4:85731265-85731265 T>G_AMRYEPANSHFFTTEIQYEKLADAV
16:19471563-19471563 A>C	1.0	4283	COLON	-	-	-	-	TMC5	ENST00000381414,p.K352T|uc002dgb.4,p.K352T|uc010vaq.2,p.K352T|NM_001261841,p.K352T|NM_001105248,p.K352T|uc010var.2,p.K352T|uc002dgc.4,p.K352T|ENST00000396229,p.K352T|NM_001105249,p.K352T|ENST00000541464,p.K352T|ENST00000542583,p.K352T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010var.2	nonsynonymous SNV	exon6	c.A1055C	p.K352T	SECDWHKSPQGQKLIASLIPMTSRD	SECDWHKSPQGQTLIASLIPMTSRD	9.0	3.0	-	-	4283_16:19471563-19471563 A>C_SECDWHKSPQGQTLIASLIPMTSRD
3:64133270-64133270 G>T	0.0	4283	COLON	-	-	-	-	PRICKLE2	uc003dmf.3,p.P299Q|NM_198859,p.P299Q|ENST00000295902,p.P299Q|ENST00000564377,p.P355Q	protein_coding	uc003dmf.3	nonsynonymous SNV	exon7	c.C896A	p.P299Q	HCKKSLLGRPFLPKQGQIFCSRACS	HCKKSLLGRPFLQKQGQIFCSRACS	6.0	7.0	-	-	4283_3:64133270-64133270 G>T_HCKKSLLGRPFLQKQGQIFCSRACS
16:19471563-19471563 A>C	1.0	4283	COLON	-	-	-	-	TMC5	uc002dgf.4,p.K14T|ENST00000564959,p.K14T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dgf.4	nonsynonymous SNV	exon2	c.A41C	p.K14T	LSDDHVNEIIIQKLIASLIPMTSRD	LSDDHVNEIIIQTLIASLIPMTSRD	9.0	3.0	-	-	4283_16:19471563-19471563 A>C_LSDDHVNEIIIQTLIASLIPMTSRD
7:140453136-140453136 A>T	1.0	4283	COLON	-	-	ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system)	1	BRAF	uc003vwc.4,p.V600E|NM_004333,p.V600E|ENST00000479537,p.V28E|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	-	-	4283_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ
11:118133173-118133173 C>T	1.0	4283	COLON	0.01	-	ID=COSM2150713;OCCURENCE=1(central_nervous_system)	-	MPZL2	NM_005797,p.R139Q|uc001psn.3,p.R139Q|ENST00000438295,p.R139Q|ENST00000278937,p.R139Q|uc001pso.3,p.R139Q|NM_144765,p.R139Q	retained_intron, protein_coding, processed_transcript	uc001pso.3	nonsynonymous SNV	exon3	c.G416A	p.R139Q	NPPDVDGVIGEIRLSVVHTVRFSEI	NPPDVDGVIGEIQLSVVHTVRFSEI	10.0	10.0	-	-	4283_11:118133173-118133173 C>T_NPPDVDGVIGEIQLSVVHTVRFSEI
17:38243028-38243028 C>G	1.0	4283	COLON	-	-	-	-	THRA	uc021twy.1,p.F215L|NM_199334,p.F215L|ENST00000546243,p.F215L|uc002htx.3,p.F215L|NM_003250,p.F215L|uc010cwp.1,p.F215L|ENST00000450525,p.F215L|ENST00000584985,p.F215L|uc002htw.3,p.F215L|ENST00000264637,p.F215L|uc002htv.3,p.F215L|NM_001190918,p.F215L|NM_001190919,p.F215L|ENST00000394121,p.F215L	retained_intron, protein_coding	uc021twy.1	nonsynonymous SNV	exon7	c.C645G	p.F215L	SMPDGDKVDLEAFSEFTKIITPAIT	SMPDGDKVDLEALSEFTKIITPAIT	8.0	1.0	-	-	4283_17:38243028-38243028 C>G_SMPDGDKVDLEALSEFTKIITPAIT
16:70817010-70817010 T>C	1.0	4283	COLON	-	-	-	-	VAC14	ENST00000261776,p.E246G|NM_018052,p.E246G|uc002ezm.3,p.E246G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ezm.3	nonsynonymous SNV	exon7	c.A737G	p.E246G	KMCEVVLGEFLKEIKKNPSSVKFAE	KMCEVVLGEFLKGIKKNPSSVKFAE	9.0	6.0	-	-	4283_16:70817010-70817010 T>C_KMCEVVLGEFLKGIKKNPSSVKFAE
1:104233944-104233944 C>T	0.0	4283	COLON	-	-	-	-	AMY1A,AMY1B,AMY1C	uc001dux.1,p.R358H|uc001duw.1,p.R358H|NM_004038,p.R358H|ENST00000370080,p.R358H|NM_001008218,p.R358H|ENST00000330330,p.R358H|NM_001008221,p.R358H|NM_001008219,p.R358H	protein_coding, processed_transcript	uc001dux.1	nonsynonymous SNV	exon8	c.G1073A	p.R358H	HPYGFTRVMSSYRWPRYFENGKDVN	HPYGFTRVMSSYHWPRYFENGKDVN	10.0	6.0	-	-	4283_1:104233944-104233944 C>T_HPYGFTRVMSSYHWPRYFENGKDVN
6:26056308-26056308 T>C	1.0	4283	COLON	-	-	-	-	HIST1H1C	uc003nfw.3,p.K117E|ENST00000343677,p.K117E|NM_005319,p.K117E	protein_coding	uc003nfw.3	nonsynonymous SNV	exon1	c.A349G	p.K117E	FKLNKKAASGEAKPKVKKAGGTKPK	FKLNKKAASGEAEPKVKKAGGTKPK	10.0	2.0	-	-	4283_6:26056308-26056308 T>C_FKLNKKAASGEAEPKVKKAGGTKPK
3:195507097-195507097 G>A	1.0	4283	COLON	-	-	-	2	MUC4	ENST00000475231,p.A3785V|ENST00000462323,p.A3785V|ENST00000479406,p.A3785V|ENST00000466475,p.A3785V|NM_018406,p.A3785V|ENST00000480843,p.A3785V|uc021xjp.1,p.A3785V|ENST00000477086,p.A3785V|ENST00000463781,p.A3785V|ENST00000478156,p.A3785V|ENST00000477756,p.A3785V|ENST00000470451,p.A3785V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C11354T	p.A3785V	HATPLPVTDASSASTGDTTPLPVTD	HATPLPVTDASSVSTGDTTPLPVTD	8.0	5.0	unscreened	-	4283_3:195507097-195507097 G>A_HATPLPVTDASSVSTGDTTPLPVTD
16:19471563-19471563 A>C	1.0	4283	COLON	-	-	-	-	TMC5	uc002dgd.1,p.K106T|ENST00000219821,p.K106T|NM_024780,p.K106T|uc002dge.4,p.K106T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dge.4	nonsynonymous SNV	exon2	c.A317C	p.K106T	TPGSSHETVQGQKLIASLIPMTSRD	TPGSSHETVQGQTLIASLIPMTSRD	9.0	3.0	-	-	4283_16:19471563-19471563 A>C_TPGSSHETVQGQTLIASLIPMTSRD
19:20229754-20229754 G>A	1.0	4283	COLON	-	-	-	-	ZNF90	NM_007138,p.R464H|uc002nor.2,p.R464H|ENST00000418063,p.R464H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nor.2	nonsynonymous SNV	exon4	c.G1391A	p.R464H	PYKCEECGKAFKRSSNLTTHKISHT	PYKCEECGKAFKHSSNLTTHKISHT	9.0	7.0	-	-	4283_19:20229754-20229754 G>A_PYKCEECGKAFKHSSNLTTHKISHT
1:184702028-184702028 C>A	1.0	4283	COLON	-	-	-	-	EDEM3	uc010pom.2,p.Q185H|ENST00000318130,p.Q185H|uc001gqy.3,p.Q108H|ENST00000367512,p.Q142H|NM_025191,p.Q185H|uc010pok.2,p.Q185H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pom.2	nonsynonymous SNV	exon6	c.G555T	p.Q185H	QWYNDELLQMAKQLGYKLLPAFNTT	QWYNDELLQMAKHLGYKLLPAFNTT	8.0	6.0	-	-	4283_1:184702028-184702028 C>A_QWYNDELLQMAKHLGYKLLPAFNTT
6:159457247-159457247 G>A	1.0	4283	COLON	-	-	-	-	TAGAP	uc003qsa.3,p.P425L|NM_054114,p.P603L|uc003qrz.3,p.P603L|uc011eft.2,p.P540L|NM_152133,p.P425L|ENST00000367066,p.P603L|ENST00000326965,p.P425L|NM_001278733,p.P540L	protein_coding	uc011eft.2	nonsynonymous SNV	exon6	c.C1619T	p.P540L	GSPPSYEEAMQGPAARLVASESQTV	GSPPSYEEAMQGLAARLVASESQTV	6.0	8.0	-	-	4283_6:159457247-159457247 G>A_GSPPSYEEAMQGLAARLVASESQTV
11:64572092-64572092 ->G	1.0	4283	COLON	-	-	ID=COSM23051;OCCURENCE=1(breast),1(large_intestine),3(parathyroid)	1	MEN1	uc001obn.3,p.R521fs|NM_130804,p.R521fs|NM_130802,p.R521fs|ENST00000443283,p.R521fs|ENST00000377313,p.R521fs|ENST00000377326,p.R516fs|uc001obm.3,p.R516fs|ENST00000394374,p.R521fs|uc001obk.3,p.R521fs|NM_130799,p.R516fs|uc001obj.3,p.R521fs|ENST00000394376,p.R521fs|ENST00000337652,p.R521fs|uc001obr.3,p.R521fs|NM_130800,p.R521fs|uc001obl.3,p.R481fs|uc001obq.3,p.R521fs|NM_000244,p.R521fs|ENST00000377321,p.R481fs|uc001obo.3,p.R521fs|ENST00000315422,p.R516fs|ENST00000312049,p.R516fs|NM_130803,p.R521fs|ENST00000377316,p.R461fs|NM_130801,p.R521fs	protein_coding, processed_transcript	uc001obr.3	frameshift insertion	exon10	c.1561dupC	p.R521fs	LGTGQGAVSGPPRKPPGTVAGTARG	LGTGQGAVSGPPPEASWDCRWHSPRP	9.0	5.0	-	-	4283_11:64572092-64572092 ->G_LGTGQGAVSGPPPEASWDCRWHSPRP
1:6150487-6150487 G>A	1.0	4283	COLON	-	-	-	-	KCNAB2	ENST00000352527,p.V138M|ENST00000428161,p.V138M|ENST00000378092,p.V138M|uc001alu.3,p.V152M|ENST00000341524,p.V152M|NM_001199861,p.V152M|NM_003636,p.V152M|uc009vlv.2,p.V152M|ENST00000378083,p.V185M|uc001alv.2,p.V152M|NM_001199863,p.V85M|ENST00000164247,p.V152M|uc001alx.2,p.V152M|uc009vlw.2,p.V85M|ENST00000458166,p.V85M|ENST00000602612,p.V152M|ENST00000389632,p.V152M|NM_001199862,p.V185M|uc001aly.2,p.V185M|NM_172130,p.V138M|ENST00000378097,p.V152M|uc001alw.2,p.V138M|NM_001199860,p.V152M	retained_intron, protein_coding, processed_transcript	uc009vlw.2	nonsynonymous SNV	exon8	c.G253A	p.V85M	LKASLERLQLEYVDVVFANRPDPNT	LKASLERLQLEYMDVVFANRPDPNT	9.0	9.0	-	-	4283_1:6150487-6150487 G>A_LKASLERLQLEYMDVVFANRPDPNT
6:66044987-66044987 C>T	1.0	4283	COLON	-	-	-	-	EYS	NM_198283,p.R551Q|NM_001142800,p.R551Q|uc021zbn.1,p.R551Q|ENST00000370616,p.R551Q|uc003peq.3,p.R551Q|ENST00000370621,p.R551Q|ENST00000393380,p.R551Q|NM_001142801,p.R551Q|ENST00000370618,p.R551Q|uc011dxu.1,p.R551Q|ENST00000342421,p.R551Q|NM_001292009,p.R551Q|uc003per.1,p.R551Q|ENST00000503581,p.R551Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zbn.1	nonsynonymous SNV	exon11	c.G1652A	p.R551Q	CSCLSEEDSQEYRYLCFLRWAGNMY	CSCLSEEDSQEYQYLCFLRWAGNMY	3.0	8.0	-	-	4283_6:66044987-66044987 C>T_CSCLSEEDSQEYQYLCFLRWAGNMY
11:73057974-73057974 C>T	0.0	4283	COLON	-	-	-	-	ARHGEF17	uc001otu.3,p.S1080L|NM_014786,p.S1080L|ENST00000263674,p.S1080L	retained_intron, protein_coding, processed_transcript	uc001otu.3	nonsynonymous SNV	exon2	c.C3239T	p.S1080L	KHVAMTLLDTEQSYVESLRTLMQGY	KHVAMTLLDTEQLYVESLRTLMQGY	6.0	2.0	-	-	4283_11:73057974-73057974 C>T_KHVAMTLLDTEQLYVESLRTLMQGY
9:130941617-130941617 G>A	1.0	4283	COLON	-	-	-	-	CIZ1	uc011mas.2,p.P320L|ENST00000277465,p.P290L|ENST00000415526,p.P212L|ENST00000538431,p.P290L|uc011maq.2,p.P285L|ENST00000393608,p.P290L|uc004bts.3,p.P261L|NM_001131017,p.P285L|NM_001131018,p.P266L|uc004btv.3,p.P290L|NM_001131016,p.P290L|uc004btt.3,p.P290L|NM_001131015,p.P290L|uc004btw.3,p.P290L|ENST00000325721,p.P261L|ENST00000541172,p.P189L|uc004btr.3,p.P290L|uc004btu.3,p.P266L|ENST00000372954,p.P266L|NM_001257975,p.P320L|NM_012127,p.P290L|ENST00000372948,p.P290L|ENST00000357558,p.P290L|ENST00000372938,p.P290L|uc011mar.2,p.P189L|uc004btx.2,p.P266L|NM_001257976,p.P189L	protein_coding, processed_transcript	uc011mas.2	nonsynonymous SNV	exon8	c.C959T	p.P320L	QVKAQPQARMTVPKQTQTPDLLPEA	QVKAQPQARMTVLKQTQTPDLLPEA	9.0	3.0	-	-	4283_9:130941617-130941617 G>A_QVKAQPQARMTVLKQTQTPDLLPEA
X:136649197-136649197 G>A	1.0	4283	COLON	-	-	-	-	ZIC3	NM_003413,p.R116H|uc004fak.3,p.R116H|ENST00000370606,p.R116H|ENST00000287538,p.R116H	protein_coding, processed_transcript	uc004fak.3	nonsynonymous SNV	exon1	c.G347A	p.R116H	YGGAASAAFNSTREFLFRQRSSGLS	YGGAASAAFNSTHEFLFRQRSSGLS	2.0	10.0	-	-	4283_X:136649197-136649197 G>A_YGGAASAAFNSTHEFLFRQRSSGLS
3:97593234-97593234 T>C	1.0	4283	COLON	-	-	-	-	CRYBG3	uc021xbn.2,p.Y1066H|ENST00000419587,p.Y1066H|NM_153605,p.Y1066H	protein_coding	uc021xbn.2	nonsynonymous SNV	exon4	c.T3196C	p.Y1066H	NGGIDSVSSSSSYPEEVSMIVNSHK	NGGIDSVSSSSSHPEEVSMIVNSHK	6.0	9.0	-	-	4283_3:97593234-97593234 T>C_NGGIDSVSSSSSHPEEVSMIVNSHK
16:47117434-47117434 G>A	1.0	4283	COLON	-	-	ID=COSM300096;OCCURENCE=2(large_intestine)	-	NETO2	NM_001201477,p.R419W|ENST00000562435,p.R426W|ENST00000303155,p.R419W|NM_018092,p.R426W|uc010vgf.2,p.R419W|uc002eeq.2,p.R161W|uc002eer.2,p.R426W	protein_coding	uc010vgf.2	nonsynonymous SNV	exon9	c.C1255T	p.R419W	DLSEELDNYQKMRRSSTASRCIHDH	DLSEELDNYQKMWRSSTASRCIHDH	8.0	2.0	-	-	4283_16:47117434-47117434 G>A_DLSEELDNYQKMWRSSTASRCIHDH
19:42799030-42799047 TTTGTCTGCAGTTGAAGA>-	1.0	4283	COLON	-	-	-	1	CIC	uc002otf.1,p.1505_1511del|NM_015125,p.1505_1511del|ENST00000160740,p.1503_1509del|ENST00000575354,p.1505_1511del|ENST00000573349,p.232_238del|ENST00000572681,p.2411_2417del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002otf.1	nonframeshift deletion	exon20	c.4514_4531del	p.1505_1511del	FQARYADIFPSKVCLQLKIREVRQK	FQARYADIFPSKVREVRQKIMQAAT	8.0	1.0	-	-	4283_19:42799030-42799047 TTTGTCTGCAGTTGAAGA>-_FQARYADIFPSKVREVRQKIMQAAT
2:242004801-242004801 G>A	1.0	4283	COLON	-	-	-	-	SNED1	uc002waj.1,p.A21T|ENST00000405547,p.A934T|uc002wak.3,p.A21T|ENST00000310397,p.A934T|uc002wai.1,p.A169T|NM_001080437,p.A934T|ENST00000342631,p.A934T|ENST00000401884,p.A934T|uc002wah.1,p.A934T	retained_intron, protein_coding, processed_transcript	uc002wak.3	nonsynonymous SNV	exon1	c.G61A	p.A21T	VSISWNPPNGPAARQMLDGYAVTYV	VSISWNPPNGPATRQMLDGYAVTYV	6.0	8.0	-	-	4283_2:242004801-242004801 G>A_VSISWNPPNGPATRQMLDGYAVTYV
5:32780917-32780917 C>A	0.0	4283	COLON	-	-	-	-	NPR3	uc010iuo.3,p.Q213K|ENST00000509104,p.Q206K|ENST00000415167,p.Q429K|NM_001204376,p.Q213K|ENST00000265074,p.Q429K|uc003jhv.3,p.Q429K|uc003jhw.2,p.Q213K|ENST00000415685,p.Q213K|NM_001204375,p.Q429K|ENST00000434067,p.Q213K|uc003jhu.3,p.Q429K|NM_000908,p.Q429K	retained_intron, protein_coding	uc010iuo.3	nonsynonymous SNV	exon5	c.C637A	p.Q213K	SVIAMTDVEAGTQEVIGDYFGKEGR	SVIAMTDVEAGTKEVIGDYFGKEGR	6.0	8.0	-	-	4283_5:32780917-32780917 C>A_SVIAMTDVEAGTKEVIGDYFGKEGR
7:64167727-64167727 A>C	1.0	4283	COLON	-	-	-	-	ZNF107	uc003ttd.3,p.I349L|ENST00000423627,p.I349L|uc003tte.3,p.I349L|NM_001013746,p.I349L|ENST00000344930,p.I349L|ENST00000395391,p.I349L|NM_001282360,p.I386L|NM_016220,p.I349L|NM_001282359,p.I418L	protein_coding	uc003tte.3	nonsynonymous SNV	exon5	c.A1045C	p.I349L	FNQFSTLTRHKIIHTGEKPYKCKEC	FNQFSTLTRHKILHTGEKPYKCKEC	8.0	6.0	-	-	4283_7:64167727-64167727 A>C_FNQFSTLTRHKILHTGEKPYKCKEC
10:11784657-11784657 G>A	1.0	4283	COLON	-	-	-	-	ECHDC3	uc001ikw.4,p.A28T|ENST00000379215,p.A28T|NM_024693,p.A28T|ENST00000420401,p.A28T	protein_coding, processed_transcript	uc001ikw.4	nonsynonymous SNV	exon1	c.G82A	p.A28T	MCLRRGPWAQLPARFCSRDPAGAGR	MCLRRGPWAQLPTRFCSRDPAGAGR	6.0	9.0	-	-	4283_10:11784657-11784657 G>A_MCLRRGPWAQLPTRFCSRDPAGAGR
X:8504856-8504856 A>C	0.0	4283	COLON	-	-	-	-	KAL1	ENST00000262648,p.L526R|NM_000216,p.L526R|uc004csf.3,p.L526R	protein_coding, processed_transcript	uc004csf.3	nonsynonymous SNV	exon11	c.T1577G	p.L526R	EAVFFTTPPCSALKGKSHKPVGCLG	EAVFFTTPPCSARKGKSHKPVGCLG	6.0	3.0	unscreened	-	4283_X:8504856-8504856 A>C_EAVFFTTPPCSARKGKSHKPVGCLG
18:50683800-50683800 C>T	0.0	4283	COLON	-	-	-	2	DCC	ENST00000581580,p.R101C|NM_005215,p.R446C|ENST00000442544,p.R446C|ENST00000412726,p.R294C|uc002lfe.2,p.R446C|uc010xdr.1,p.R294C|uc010dpf.2,p.R101C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdr.1	nonsynonymous SNV	exon8	c.C880T	p.R294C	DVVPVLVSSRFVRLSWRPPAEAKGN	DVVPVLVSSRFVCLSWRPPAEAKGN	6.0	10.0	-	-	4283_18:50683800-50683800 C>T_DVVPVLVSSRFVCLSWRPPAEAKGN
11:100863334-100863334 T>A	1.0	4283	COLON	-	-	-	-	TMEM133	uc001pgf.3,p.F99I|NM_032021,p.F99I|ENST00000303130,p.F99I	protein_coding	uc001pgf.3	nonsynonymous SNV	exon1	c.T295A	p.F99I	EYSSTGLNFLNTFTVSLIVTVIPLL	EYSSTGLNFLNTITVSLIVTVIPLL	4.0	10.0	-	-	4283_11:100863334-100863334 T>A_EYSSTGLNFLNTITVSLIVTVIPLL
12:43944935-43944935 C>A	0.0	4283	COLON	-	-	ID=COSM1511836,COSM1511835;OCCURENCE=1(lung)	-	ADAMTS20	ENST00000389420,p.R77L|uc010skx.2,p.R77L|NM_025003,p.R77L|ENST00000553158,p.R77L	protein_coding	uc010skx.2	nonsynonymous SNV	exon2	c.G230T	p.R77L	KRSSEALEPMPFRTHYRFTAYGQLF	KRSSEALEPMPFLTHYRFTAYGQLF	1.0	2.0	-	-	4283_12:43944935-43944935 C>A_KRSSEALEPMPFLTHYRFTAYGQLF
20:34087901-34087901 G>T	1.0	4283	COLON	-	-	-	-	CEP250	ENST00000342580,p.Q1211H|uc010zve.2,p.Q635H|NM_007186,p.Q1267H|ENST00000397527,p.Q1267H|uc021wco.1,p.Q1267H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wco.1	nonsynonymous SNV	exon28	c.G3801T	p.Q1267H	TQQTRDVLRDQVQKLEERLTDTEAE	TQQTRDVLRDQVHKLEERLTDTEAE	8.0	1.0	-	-	4283_20:34087901-34087901 G>T_TQQTRDVLRDQVHKLEERLTDTEAE
19:45412007-45412007 C>T	0.0	4283	COLON	-	-	-	-	APOE	NM_000041,p.R152W|ENST00000252486,p.R152W|ENST00000425718,p.R152W|ENST00000434152,p.R178W|uc002pab.3,p.R152W|ENST00000446996,p.R152W	retained_intron, protein_coding	uc002pab.3	nonsynonymous SNV	exon4	c.C454T	p.R152W	VQAMLGQSTEELRVRLASHLRKLRK	VQAMLGQSTEELWVRLASHLRKLRK	10.0	7.0	-	-	4283_19:45412007-45412007 C>T_VQAMLGQSTEELWVRLASHLRKLRK
8:67488324-67488324 A>C	1.0	4283	COLON	-	-	-	-	MYBL1	ENST00000517885,p.L121R|NM_001080416,p.L463R|uc003xwk.3,p.L462R|ENST00000524176,p.L463R|ENST00000522677,p.L463R|NM_001144755,p.L463R|uc003xwl.3,p.L463R|NM_001294282,p.L462R|uc003xwj.3,p.L463R	retained_intron, protein_coding, processed_transcript	uc003xwl.3	nonsynonymous SNV	exon10	c.T1388G	p.L463R	RKMRVGHSPGSELRDGSLNDGGNMA	RKMRVGHSPGSERRDGSLNDGGNMA	5.0	1.0	-	-	4283_8:67488324-67488324 A>C_RKMRVGHSPGSERRDGSLNDGGNMA
17:7417327-7417327 C>A	1.0	4283	COLON	-	-	-	-	POLR2A	ENST00000322644,p.T1915N|NM_000937,p.T1915N|uc002ghf.4,p.T1915N	retained_intron, protein_coding	uc002ghf.4	nonsynonymous SNV	exon29	c.C5744A	p.T1915N	TPTSPKYSPTSPTYSPTSPKYSPTS	TPTSPKYSPTSPNYSPTSPKYSPTS	10.0	5.0	unscreened	-	4283_17:7417327-7417327 C>A_TPTSPKYSPTSPNYSPTSPKYSPTS
10:54048563-54048563 A>C	0.0	4283	COLON	-	-	-	-	PRKG1	ENST00000373980,p.K596T|NM_001098512,p.K581T|uc001jjm.3,p.K581T|ENST00000373985,p.K569T|uc001jjo.3,p.K596T|ENST00000373975,p.K299T|NM_006258,p.K596T|ENST00000401604,p.K581T|uc009xow.2,p.K299T	protein_coding	uc009xow.2	nonsynonymous SNV	exon12	c.A896C	p.K299T	IILRGIDMIEFPKKIAKNAANLIKK	IILRGIDMIEFPTKIAKNAANLIKK	6.0	5.0	-	-	4283_10:54048563-54048563 A>C_IILRGIDMIEFPTKIAKNAANLIKK
1:249141790-249141790 G>A	1.0	4283	COLON	-	-	-	-	ZNF672	uc021pme.1,p.R106Q|uc001iex.3,p.R106Q|ENST00000306562,p.R106Q|NM_024836,p.R106Q	protein_coding, processed_transcript	uc021pme.1	nonsynonymous SNV	exon1	c.G317A	p.R106Q	QRCRTCPCRTCGRRFPHLPALLLHR	QRCRTCPCRTCGQRFPHLPALLLHR	7.0	3.0	-	-	4283_1:249141790-249141790 G>A_QRCRTCPCRTCGQRFPHLPALLLHR
12:66800178-66800178 C>A	1.0	4283	COLON	-	-	-	-	GRIP1	uc001stl.1,p.L463F|uc001stj.3,p.L353F|uc010sta.1,p.L515F|ENST00000538211,p.L571F|uc001stm.3,p.L571F|ENST00000398016,p.L571F|uc001stk.3,p.L571F|ENST00000286445,p.L623F|ENST00000540433,p.L515F|ENST00000536215,p.L463F|ENST00000359742,p.L623F|NM_001178074,p.L571F|NM_021150,p.L571F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sta.1	nonsynonymous SNV	exon14	c.G1545T	p.L515F	AHRTGTLELGDKLLAIDNIRLDNCS	AHRTGTLELGDKFLAIDNIRLDNCS	5.0	8.0	-	-	4283_12:66800178-66800178 C>A_AHRTGTLELGDKFLAIDNIRLDNCS
9:34493200-34493200 C>G	0.0	4283	COLON	-	-	-	-	DNAI1	NM_001281428,p.I234M|ENST00000242317,p.I230M|uc003zum.3,p.I230M|ENST00000437363,p.I219M|NM_012144,p.I230M	protein_coding, processed_transcript, nonsense_mediated_decay	uc003zum.3	nonsynonymous SNV	exon9	c.C690G	p.I230M	RTNFSATANQWEIYDAYVEELEKQE	RTNFSATANQWEMYDAYVEELEKQE	3.0	10.0	-	-	4283_9:34493200-34493200 C>G_RTNFSATANQWEMYDAYVEELEKQE
7:139060859-139060859 ->TCACCT	0.0	4283	COLON	-	-	-	-	C7orf55-LUC7L2,LUC7L2	uc011kqs.2,p.S35delinsSHL|uc003vux.4,p.S38delinsSHL|ENST00000263545,p.S37delinsSHL|ENST00000354926,p.S38delinsSHL|uc011kqt.3,p.S104delinsSHL|NM_001244584,p.S104delinsSHL|ENST00000541170,p.S35delinsSHL|NM_001270643,p.S37delinsSHL|uc003vuy.4,p.S37delinsSHL|ENST00000541515,p.S104delinsSHL|NM_016019,p.S38delinsSHL|NM_001244585,p.S35delinsSHL	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kqt.3	nonframeshift insertion	exon3	c.311_312insTCACCT	p.S104delinsSHL	QRIKFSDDRVCKSHLLNCCPHDVLS	QRIKFSDDRVCKSHLHLLNCCPHDV	9.0	1.0	-	-	4283_7:139060859-139060859 ->TCACCT_QRIKFSDDRVCKSHLHLLNCCPHDV
14:53150506-53150506 C>A	0.0	4283	COLON	-	-	ID=COSM348947;OCCURENCE=1(lung)	-	ERO1L	NM_014584,p.K78N|ENST00000556039,p.K78N|ENST00000554019,p.K78N|uc001wzv.3,p.K78N|ENST00000556223,p.K78N|ENST00000395686,p.K78N	retained_intron, protein_coding, nonsense_mediated_decay	uc001wzv.3	nonsynonymous SNV	exon2	c.G234T	p.K78N	QKLLESDYFRYYKVNLKRPCPFWND	QKLLESDYFRYYNVNLKRPCPFWND	10.0	4.0	-	-	4283_14:53150506-53150506 C>A_QKLLESDYFRYYNVNLKRPCPFWND
1:41327789-41327789 ->GGTC	0.0	4283	COLON	-	-	-	-	CITED4	uc001cgj.3,p.H4fs|ENST00000372638,p.H4fs|NM_133467,p.H4fs	protein_coding	uc001cgj.3	frameshift insertion	exon1	c.10_11insGACC	p.H4fs	MADHLMLAEGYRLVQR	MADRPPDARRGLPPGAEAAVRRGRPWPSCAPDSAAVRGPGPGQWAEAAGGSAGAAAAPPTRGPGVRGLRAAVLLPALSGRASAGRGHRAPAACGDAVPRPRGRAPQRSGRPPGPAAGAKRRSPAAARARPGRHGRRTHRRGGADVAGAGARAAPRARAARALPGPERVRLLLGLGVRAARRLRELL	4.0	1.0	unscreened	-	4283_1:41327789-41327789 ->GGTC_MADRPPDARRGLPPGAEAAVRRGRPWPSCAPDSAAVRGPGPGQWAEAAGGSAGAAAAPPTRGPGVRGLRAAVLLPALSGRASAGRGHRAPAACGDAVPRPRGRAPQRSGRPPGPAAGAKRRSPAAARARPGRHGRRTHRRGGADVAGAGARAAPRARAARALPGPERVRLLLGLGVRAARRLRELL
11:92568115-92568115 C>-	0.0	4283	COLON	-	-	-	2	FAT3	ENST00000525166,p.G3167fs|uc001pdj.4,p.G3317fs|ENST00000409404,p.G3317fs|NM_001008781,p.G3317fs|ENST00000298047,p.G3317fs	retained_intron, protein_coding, processed_transcript	uc001pdj.4	frameshift deletion	exon14	c.9951delC	p.G3317fs	KRFYLVVEAKDGGTPALSAVATVNI	KRFYLVVEAKDGGPQLSALWPLSTSTSQMLMTTLPSSAKTSTVRLSVKTPWWETLSFC	4.0	10.0	unscreened	-	4283_11:92568115-92568115 C>-_KRFYLVVEAKDGGPQLSALWPLSTSTSQMLMTTLPSSAKTSTVRLSVKTPWWETLSFC
11:66982850-66982850 C>A	1.0	4283	COLON	-	-	-	-	KDM2A	ENST00000398645,p.H176N|ENST00000529006,p.H176N|uc031qbr.1,p.H159N|uc001ojw.3,p.H176N|NM_012308,p.H176N	protein_coding, processed_transcript	uc031qbr.1	nonsynonymous SNV	exon7	c.C475A	p.H159N	DFIDWVDNMWPRHLKESQTESTNAI	DFIDWVDNMWPRNLKESQTESTNAI	8.0	8.0	-	-	4283_11:66982850-66982850 C>A_DFIDWVDNMWPRNLKESQTESTNAI
7:102194965-102194965 A>G	1.0	4283	COLON	-	-	-	-	SPDYE2,SPDYE2B	NM_001166339,p.K107R|uc011kkx.2,p.K107R	protein_coding	uc011kkx.2	nonsynonymous SNV	exon3	c.A320G	p.K107R	VVEMLCGLKMKLKQQRVSSILPEHH	VVEMLCGLKMKLRQQRVSSILPEHH	5.0	2.0	unscreened	-	4283_7:102194965-102194965 A>G_VVEMLCGLKMKLRQQRVSSILPEHH
14:42360614-42360614 G>A	1.0	4283	COLON	-	-	-	-	LRFN5	ENST00000298119,p.R516H|uc001wvm.3,p.R516H|NM_152447,p.R516H	protein_coding, processed_transcript	uc001wvm.3	nonsynonymous SNV	exon4	c.G1547A	p.R516H	GCIQFTTEQDYVRCHFMQSQFLGGT	GCIQFTTEQDYVHCHFMQSQFLGGT	3.0	6.0	-	-	4283_14:42360614-42360614 G>A_GCIQFTTEQDYVHCHFMQSQFLGGT
17:39742714-39742714 G>A	1.0	4283	COLON	-	-	-	-	KRT14	NM_000526,p.R125C|ENST00000167586,p.R125C|uc002hxf.2,p.R125C	retained_intron, protein_coding	uc002hxf.2	nonsynonymous SNV	exon1	c.C373T	p.R125C	GSEKVTMQNLNDRLASYLDKVRALE	GSEKVTMQNLNDCLASYLDKVRALE	4.0	4.0	-	-	4283_17:39742714-39742714 G>A_GSEKVTMQNLNDCLASYLDKVRALE
4:184930940-184930940 C>T	0.0	4283	COLON	-	-	-	-	STOX2	NM_020225,p.R317C|ENST00000438269,p.R317C|ENST00000308497,p.R317C|uc003ivz.1,p.R317C	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ivz.1	nonsynonymous SNV	exon3	c.C949T	p.R317C	TIPREVEMEIIRRINPDLTVENVMR	TIPREVEMEIIRCINPDLTVENVMR	4.0	10.0	-	-	4283_4:184930940-184930940 C>T_TIPREVEMEIIRCINPDLTVENVMR
11:105923888-105923888 T>C	0.0	4283	COLON	-	-	ID=COSM275631;OCCURENCE=1(large_intestine)	-	KBTBD3	uc009yxm.3,p.T431A|NM_198439,p.T510A|ENST00000526793,p.T510A|uc001pjb.3,p.T510A|uc001pja.3,p.T510A|NM_152433,p.T510A|ENST00000534815,p.T431A|ENST00000531837,p.T510A	retained_intron, protein_coding, processed_transcript	uc009yxm.3	nonsynonymous SNV	exon2	c.A1291G	p.T431A	HATLIKAVPVNCTLYICDLSTYKVY	HATLIKAVPVNCALYICDLSTYKVY	4.0	1.0	-	-	4283_11:105923888-105923888 T>C_HATLIKAVPVNCALYICDLSTYKVY
14:71206774-71206774 G>T	0.0	4283	COLON	-	-	-	-	MAP3K9	uc010ttk.2,p.L296I|uc001xmm.3,p.L559I|NM_033141,p.L559I|ENST00000554752,p.L559I|ENST00000554146,p.L296I|ENST00000381250,p.L559I|uc001xml.3,p.L559I|NM_001284230,p.L559I|ENST00000555993,p.L559I	retained_intron, protein_coding	uc010ttk.2	nonsynonymous SNV	exon7	c.C886A	p.L296I	SSPPASPTIIPRLRAIQLTPGESSK	SSPPASPTIIPRIRAIQLTPGESSK	6.0	3.0	-	-	4283_14:71206774-71206774 G>T_SSPPASPTIIPRIRAIQLTPGESSK
19:14066727-14066727 C>T	1.0	4283	COLON	-	-	-	-	DCAF15	uc002mxt.3,p.R124W|ENST00000254337,p.R124W|NM_138353,p.R124W	retained_intron, protein_coding, nonsense_mediated_decay	uc002mxt.3	nonsynonymous SNV	exon4	c.C370T	p.R124W	WEFNVHSKLKLVRQVRLFQDEEIYS	WEFNVHSKLKLVWQVRLFQDEEIYS	8.0	6.0	-	-	4283_19:14066727-14066727 C>T_WEFNVHSKLKLVWQVRLFQDEEIYS
7:102194965-102194965 A>G	1.0	4283	COLON	-	-	-	-	SPDYE2,SPDYE2B	NM_001031618,p.K107R|ENST00000507918,p.K107R	protein_coding	NM_001031618	nonsynonymous SNV	exon3	c.A320G	p.K107R	VVEMLCGLKMKLKQQRVSPILPEHH	VVEMLCGLKMKLRQQRVSPILPEHH	5.0	2.0	-	-	4283_7:102194965-102194965 A>G_VVEMLCGLKMKLRQQRVSPILPEHH
19:40095984-40095984 A>G	0.0	4283	COLON	-	-	-	-	LGALS13	ENST00000221797,p.K87E|uc002omb.3,p.K87E|NM_013268,p.K87E|ENST00000600141,p.K57E	retained_intron, protein_coding	uc002omb.3	nonsynonymous SNV	exon3	c.A259G	p.K87E	EETTDYVPFEDGKQFELCIYVHYNE	EETTDYVPFEDGEQFELCIYVHYNE	3.0	6.0	-	-	4283_19:40095984-40095984 A>G_EETTDYVPFEDGEQFELCIYVHYNE
19:39440743-39440743 C>T	0.0	4283	COLON	-	-	-	-	FBXO17	uc002okf.1,p.A82T|NM_024907,p.A73T|ENST00000596025,p.A73T|ENST00000601394,p.A22T|ENST00000595329,p.A73T|ENST00000292852,p.A73T|NM_148169,p.A82T|uc002okg.1,p.A73T	retained_intron, protein_coding, nonsense_mediated_decay	uc002okg.1	nonsynonymous SNV	exon2	c.G217A	p.A73T	LQLARDRSAEGRALYAVAQRCLPSN	LQLARDRSAEGRTLYAVAQRCLPSN	4.0	7.0	-	-	4283_19:39440743-39440743 C>T_LQLARDRSAEGRTLYAVAQRCLPSN
6:22569940-22569940 C>T	0.0	4283	COLON	-	-	-	-	HDGFL1	NM_138574,p.H46Y|ENST00000510882,p.H46Y|ENST00000230012,p.H46Y|uc003nds.3,p.H46Y	protein_coding	uc003nds.3	nonsynonymous SNV	exon1	c.C136T	p.H46Y	QPNRYQVFFFGTHETAFLSPKRLFP	QPNRYQVFFFGTYETAFLSPKRLFP	1.0	6.0	-	-	4283_6:22569940-22569940 C>T_QPNRYQVFFFGTYETAFLSPKRLFP
7:94039813-94039813 G>A	0.0	4283	COLON	-	-	-	-	COL1A2	uc003ung.1,p.G391S|NM_000089,p.G391S|ENST00000297268,p.G391S	retained_intron, protein_coding	uc003ung.1	nonsynonymous SNV	exon21	c.G1171A	p.G391S	GKRGPNGEAGSAGPPGPPGLRGSPG	GKRGPNGEAGSASPPGPPGLRGSPG	10.0	8.0	-	-	4283_7:94039813-94039813 G>A_GKRGPNGEAGSASPPGPPGLRGSPG
20:1285982-1285982 G>A	1.0	4283	COLON	-	-	-	-	SNPH	ENST00000381867,p.A301T|uc002wet.3,p.A301T|ENST00000381873,p.A257T|uc002wes.3,p.A257T|NM_014723,p.A257T	protein_coding	uc002wet.3	nonsynonymous SNV	exon7	c.G901A	p.A301T	FAAADDTLSRTDALEASSLLSSGVD	FAAADDTLSRTDTLEASSLLSSGVD	4.0	10.0	-	-	4283_20:1285982-1285982 G>A_FAAADDTLSRTDTLEASSLLSSGVD
12:2794921-2794921 G>A	0.0	4283	COLON	-	rs71458011	-	-	CACNA1C	uc001qkm.2,p.E1925K|uc001qky.1,p.E183K|NM_001167625,p.E1925K|uc001qku.2,p.E1900K|ENST00000399644,p.E1865K|ENST00000399617,p.E1900K|ENST00000347598,p.E1913K|ENST00000399638,p.E1893K|NM_001129843,p.E1865K|ENST00000335762,p.E1890K|ENST00000406454,p.E1936K|NM_001129831,p.E1893K|NM_001129830,p.E1900K|uc009zdv.1,p.E1862K|uc001qjz.2,p.E1865K|NM_001129837,p.E1873K|uc001qkg.2,p.E1871K|uc001qkr.2,p.E1882K|uc001qkd.2,p.E1884K|uc001qkk.2,p.E1865K|NM_001167624,p.E1900K|NM_001129841,p.E1865K|NM_001129840,p.E1865K|NM_000719,p.E1865K|ENST00000399597,p.E1865K|ENST00000399634,p.E1936K|ENST00000399655,p.E1865K|ENST00000399601,p.E1865K|uc010sea.1,p.E556K|uc001qkn.2,p.E1865K|uc001qkj.2,p.E1900K|uc001qkc.2,p.E1884K|uc001qkl.2,p.E1913K|ENST00000399637,p.E1884K|NM_001129842,p.E1865K|NM_199460,p.E1948K|NM_001129836,p.E1882K|ENST00000399603,p.E1865K|uc009zdw.1,p.E1906K|ENST00000399649,p.E1871K|uc001qkp.2,p.E1865K|uc001qks.2,p.E1865K|uc001qki.1,p.E1672K|uc001qkq.2,p.E1893K|NM_001129838,p.E1873K|NM_001129835,p.E1884K|NM_001129834,p.E1884K|ENST00000399591,p.E1873K|NM_001129844,p.E1862K|ENST00000402845,p.E1884K|ENST00000327702,p.E1900K|NM_001129829,p.E1906K|ENST00000399629,p.E1882K|ENST00000399621,p.E1884K|ENST00000399641,p.E1865K|uc001qke.2,p.E1854K|NM_001129827,p.E1913K|uc001qkf.2,p.E1873K|uc001qkb.2,p.E1865K|ENST00000399595,p.E1873K|NM_001167623,p.E1865K|uc009zdu.1,p.E1948K|NM_001129833,p.E1884K|ENST00000399606,p.E1885K|uc001qko.2,p.E1885K|ENST00000344100,p.E1906K|uc001qkh.2,p.E1873K|NM_001129846,p.E1854K|NM_001129839,p.E1871K|NM_001129832,p.E1885K|uc001qkt.2,p.E1884K	retained_intron, protein_coding, processed_transcript	uc010sea.1	nonsynonymous SNV	exon14	c.G1666A	p.E556K	LLSTEMLSYQDDENRQLTLPEEDKR	LLSTEMLSYQDDKNRQLTLPEEDKR	6.0	4.0	unscreened	-	4283_12:2794921-2794921 G>A_LLSTEMLSYQDDKNRQLTLPEEDKR
18:44559972-44559972 A>C	0.0	4283	COLON	-	-	-	-	TCEB3B	NM_016427,p.L555R|ENST00000332567,p.L555R|uc002lcr.1,p.L555R	protein_coding	uc002lcr.1	nonsynonymous SNV	exon1	c.T1664G	p.L555R	ALSDVGEVPYWVLEPVLEGWRPDQL	ALSDVGEVPYWVREPVLEGWRPDQL	2.0	4.0	-	-	4283_18:44559972-44559972 A>C_ALSDVGEVPYWVREPVLEGWRPDQL
X:104464156-104464156 C>A	0.0	4283	COLON	-	-	-	-	TEX13A	ENST00000413579,p.K240N|NM_001291277,p.K240N|NM_031274,p.K240N	protein_coding	NM_031274	nonsynonymous SNV	exon5	c.G720T	p.K240N	VEARAASMETTEKLERILLQLLGDA	VEARAASMETTENLERILLQLLGDA	1.0	10.0	unscreened	-	4283_X:104464156-104464156 C>A_VEARAASMETTENLERILLQLLGDA
14:71206774-71206774 G>T	0.0	4283	COLON	-	-	-	-	MAP3K9	NM_001284231,p.L296I|uc001xmk.3,p.L253I|ENST00000553414,p.L253I|NM_001284232,p.L253I	retained_intron, protein_coding	uc001xmk.3	nonsynonymous SNV	exon6	c.C757A	p.L253I	SSPPASPTIIPRLRAIQCETVSQIS	SSPPASPTIIPRIRAIQCETVSQIS	6.0	3.0	-	-	4283_14:71206774-71206774 G>T_SSPPASPTIIPRIRAIQCETVSQIS
3:195512027-195512027 T>A	1.0	4283	COLON	-	-	-	2	MUC4	ENST00000470451,p.T2142S|ENST00000477756,p.T2142S|ENST00000480843,p.T2142S|ENST00000475231,p.T2142S|uc021xjp.1,p.T2142S|ENST00000478156,p.T2142S|ENST00000463781,p.T2142S|ENST00000466475,p.T2142S|ENST00000477086,p.T2142S|ENST00000462323,p.T2142S|ENST00000479406,p.T2142S|NM_018406,p.T2142S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A6424T	p.T2142S	PVTSPSSTSTGDTTPLPVTETSSVS	PVTSPSSTSTGDSTPLPVTETSSVS	8.0	1.0	unscreened	-	4283_3:195512027-195512027 T>A_PVTSPSSTSTGDSTPLPVTETSSVS
19:55449440-55449440 G>A	0.0	4283	COLON	-	-	-	-	NLRP7	NM_139176,p.R673C|ENST00000590030,p.R701C|uc002qii.4,p.R701C|uc010esk.3,p.R701C|ENST00000340844,p.R701C|ENST00000446217,p.R729C|ENST00000328092,p.R673C|NM_001127255,p.R701C|NM_206828,p.R701C|ENST00000586379,p.R701C|uc002qig.4,p.R673C|ENST00000592784,p.R701C|uc010esl.3,p.R729C|uc002qih.4,p.R701C|ENST00000588756,p.R701C|ENST00000448121,p.R673C	protein_coding, nonsense_mediated_decay	uc010esl.3	nonsynonymous SNV	exon7	c.C2185T	p.R729C	DSSVRILCDHVTRSTCHLQKVEIKN	DSSVRILCDHVTCSTCHLQKVEIKN	3.0	2.0	-	-	4283_19:55449440-55449440 G>A_DSSVRILCDHVTCSTCHLQKVEIKN
5:140554316-140554316 G>A	0.0	4283	COLON	-	-	-	-	PCDHB7	NM_018940,p.D634N|uc003lit.3,p.D634N|ENST00000231137,p.D634N	protein_coding	uc003lit.3	nonsynonymous SNV	exon1	c.G1900A	p.D634N	GEVRTARLLSERDAAKQRLVVLVKD	GEVRTARLLSERNAAKQRLVVLVKD	6.0	2.0	-	-	4283_5:140554316-140554316 G>A_GEVRTARLLSERNAAKQRLVVLVKD
X:86773235-86773235 G>T	0.0	4283	COLON	0.0006	-	ID=COSM257248,COSM1126237;OCCURENCE=1(endometrium),1(large_intestine)	-	KLHL4	NM_057162,p.K113N|uc004efb.2,p.K113N|NM_019117,p.K113N|uc004efa.2,p.K113N|ENST00000373119,p.K113N|ENST00000373114,p.K113N	protein_coding	uc004efb.2	nonsynonymous SNV	exon1	c.G339T	p.K113N	QANEDTPKSVPEKNLFKEACEKRAQ	QANEDTPKSVPENNLFKEACEKRAQ	4.0	5.0	-	-	4283_X:86773235-86773235 G>T_QANEDTPKSVPENNLFKEACEKRAQ
3:150404092-150404092 C>A	1.0	4283	COLON	-	-	-	-	ERICH6	uc003eyg.3,p.K201N|NM_152394,p.K201N|ENST00000491361,p.K55N|ENST00000295910,p.K201N|uc003eyh.3,p.K55N	retained_intron, protein_coding	uc003eyh.3	nonsynonymous SNV	exon4	c.G165T	p.K55N	SKEKAEPECLASKLREKWVINPEES	SKEKAEPECLASNLREKWVINPEES	1.0	10.0	-	-	4283_3:150404092-150404092 C>A_SKEKAEPECLASNLREKWVINPEES
5:49701686-49701686 A>T	0.0	4283	COLON	-	-	-	-	EMB	uc003jol.3,p.V89D|ENST00000303221,p.V158D|NM_198449,p.V158D|uc003jom.3,p.V158D|uc011cpy.2,p.V108D|ENST00000508934,p.V104D|ENST00000514111,p.V108D	retained_intron, protein_coding, processed_transcript	uc011cpy.2	nonsynonymous SNV	exon5	c.T323A	p.V108D	EEKEQRGTFNFKVPELHGKNKPLIS	EEKEQRGTFNFKDPELHGKNKPLIS	7.0	1.0	-	-	4283_5:49701686-49701686 A>T_EEKEQRGTFNFKDPELHGKNKPLIS
21:31798094-31798094 C>A	0.0	4283	COLON	-	-	-	-	KRTAP13-3	ENST00000390690,p.C46F|uc002yob.1,p.C46F|NM_181622,p.C46F	protein_coding	uc002yob.1	nonsynonymous SNV	exon1	c.G137T	p.C46F	LVYSTDLCSPSTCQLGSSLYRGCQE	LVYSTDLCSPSTFQLGSSLYRGCQE	1.0	8.0	-	-	4283_21:31798094-31798094 C>A_LVYSTDLCSPSTFQLGSSLYRGCQE
13:35770254-35770254 G>T	0.0	4283	COLON	-	-	-	2	NBEA	ENST00000540320,p.K1727N|ENST00000379939,p.K1724N|uc010abi.3,p.K383N|ENST00000310336,p.K1727N|NM_015678,p.K1727N|ENST00000400445,p.K1727N|uc021rid.1,p.K1727N	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon31	c.G5181T	p.K1727N	QESLTENPSETLKPATSISSISQTK	QESLTENPSETLNPATSISSISQTK	4.0	1.0	-	-	4283_13:35770254-35770254 G>T_QESLTENPSETLNPATSISSISQTK
X:151358252-151358252 G>A	0.0	4283	COLON	-	-	ID=COSM1556695;OCCURENCE=1(lung)	-	GABRA3	ENST00000370314,p.R365W|NM_000808,p.R365W|ENST00000535043,p.R365W|uc010ntk.1,p.R365W|ENST00000370311,p.R365W	protein_coding, processed_transcript	uc010ntk.1	nonsynonymous SNV	exon9	c.C1093T	p.R365W	LIEFATVNYFTKRSWAWEGKKVPEA	LIEFATVNYFTKWSWAWEGKKVPEA	2.0	4.0	-	-	4283_X:151358252-151358252 G>A_LIEFATVNYFTKWSWAWEGKKVPEA
8:31498179-31498179 T>C	0.0	4283	COLON	-	-	-	1	NRG1	ENST00000523534,p.F80L|ENST00000520407,p.F227L|uc003xip.3,p.F227L|NM_013962,p.F227L	retained_intron, protein_coding, processed_transcript	uc003xip.3	nonsynonymous SNV	exon1	c.T679C	p.F227L	STSRAPAAFRASFPPLETGRNLKKE	STSRAPAAFRASLPPLETGRNLKKE	5.0	2.0	-	-	4283_8:31498179-31498179 T>C_STSRAPAAFRASLPPLETGRNLKKE
7:71571150-71571150 C>T	0.0	4283	COLON	-	-	ID=COSM2153081,COSM2153080;OCCURENCE=2(central_nervous_system)	-	CALN1	uc003twa.4,p.R83H|ENST00000395275,p.R125H|ENST00000431984,p.R83H|ENST00000395276,p.R83H|uc003twb.4,p.R125H|ENST00000446128,p.R83H|uc003twc.4,p.R83H|NM_031468,p.R125H|ENST00000405452,p.R83H|ENST00000329008,p.R83H|ENST00000412588,p.R125H|NM_001017440,p.R83H	protein_coding, nonsense_mediated_decay	uc003twc.4	nonsynonymous SNV	exon4	c.G248A	p.R83H	MPSEVELAIIMQRLDMDGDGQVDFD	MPSEVELAIIMQHLDMDGDGQVDFD	1.0	8.0	-	-	4283_7:71571150-71571150 C>T_MPSEVELAIIMQHLDMDGDGQVDFD
1:207782839-207782839 G>A	0.0	4283	COLON	-	-	-	-	CR1	uc001hfx.3,p.R2034Q|ENST00000367049,p.R2034Q|ENST00000400960,p.R1584Q|uc001hfy.3,p.R1584Q|NM_000573,p.R1584Q|uc021pij.1,p.R1584Q|ENST00000367051,p.R1584Q|uc009xcl.1,p.R1134Q|ENST00000367053,p.R1584Q|NM_000651,p.R2034Q|ENST00000367052,p.R1584Q|ENST00000534202,p.R1134Q	retained_intron, protein_coding, processed_transcript	uc021pij.1	nonsynonymous SNV	exon29	c.G4751A	p.R1584Q	DDQVGVWSSPPPRCISTNKCTAPEV	DDQVGVWSSPPPQCISTNKCTAPEV	8.0	7.0	-	-	4283_1:207782839-207782839 G>A_DDQVGVWSSPPPQCISTNKCTAPEV
20:33583232-33583232 C>T	1.0	4283	COLON	-	-	-	-	MYH7B	ENST00000262873,p.R974W|NM_020884,p.R974W|uc002xbi.2,p.R974W	retained_intron, protein_coding, processed_transcript	uc002xbi.2	nonsynonymous SNV	exon28	c.C2920T	p.R974W	VQLEGKVKELSERLEDEEEVNADLA	VQLEGKVKELSEWLEDEEEVNADLA	4.0	9.0	-	-	4283_20:33583232-33583232 C>T_VQLEGKVKELSEWLEDEEEVNADLA
X:153040741-153040741 C>T	0.0	4283	COLON	-	-	-	-	PLXNB3	uc010nuk.2,p.S1429L|uc011mzd.2,p.S1059L|NM_005393,p.S1406L|uc004fii.2,p.S1406L|ENST00000538966,p.S1429L|NM_001163257,p.S1429L|ENST00000538776,p.S1059L|ENST00000361971,p.S1406L	protein_coding, processed_transcript	uc011mzd.2	nonsynonymous SNV	exon24	c.C3176T	p.S1059L	PSFSQRDRCHVASLLSLALHGKLEY	PSFSQRDRCHVALLLSLALHGKLEY	4.0	10.0	-	-	4283_X:153040741-153040741 C>T_PSFSQRDRCHVALLLSLALHGKLEY
4:8229270-8229270 C>T	0.0	4283	COLON	0.01	-	-	-	SH3TC1	uc003gkv.4,p.R617W|ENST00000245105,p.R617W|NM_018986,p.R617W|ENST00000539824,p.R541W|uc003gkw.4,p.R541W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.C1621T	p.R541W	ANLASIYRKQKNREKCAQVVPKAMA	ANLASIYRKQKNWEKCAQVVPKAMA	6.0	3.0	-	-	4283_4:8229270-8229270 C>T_ANLASIYRKQKNWEKCAQVVPKAMA
8:143614739-143614739 G>A	0.0	4283	COLON	-	-	-	-	BAI1	NM_001702,p.R1161H|ENST00000517894,p.R1161H|ENST00000323289,p.R1161H|uc003ywm.3,p.R1161H	retained_intron, protein_coding, nonsense_mediated_decay	uc003ywm.3	nonsynonymous SNV	exon24	c.G3482A	p.R1161H	TWMSAVLAVTDRRSALFQILFAVFD	TWMSAVLAVTDRHSALFQILFAVFD	4.0	5.0	-	-	4283_8:143614739-143614739 G>A_TWMSAVLAVTDRHSALFQILFAVFD
10:69948774-69948774 C>T	0.0	4283	COLON	-	-	-	-	MYPN	ENST00000354393,p.T664M|uc001jnm.5,p.T939M|uc001jnn.5,p.T664M|uc001jno.4,p.T939M|uc010qit.3,p.T645M|NM_001256268,p.T645M|NM_032578,p.T939M|ENST00000540630,p.T939M|ENST00000358913,p.T939M|NM_001256267,p.T939M|uc009xpt.3,p.T939M	protein_coding	uc010qit.3	nonsynonymous SNV	exon17	c.C1934T	p.T645M	ESDDEIQHDEIPTGKCIAPIFDKRL	ESDDEIQHDEIPMGKCIAPIFDKRL	2.0	9.0	-	-	4283_10:69948774-69948774 C>T_ESDDEIQHDEIPMGKCIAPIFDKRL
22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	0.0	4283	COLON	-	-	-	1	LZTR1	uc002ztn.3,p.175_176del|uc010gsr.1,p.87_88del|uc002zto.3,p.216_217del|NM_006767,p.216_217del|ENST00000215739,p.216_217del|uc011ahy.2,p.197_198del|ENST00000389355,p.197_198del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahy.2	nonframeshift deletion	exon6	c.589_594del	p.197_198del	TIGLQDRELTCWEEVAQSGEIPPSC	TIGLQDRELTCWVAQSGEIPPSCCN	9.0	4.0	unscreened	-	4283_22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-_TIGLQDRELTCWVAQSGEIPPSCCN
3:51315068-51315068 G>A	0.0	4283	COLON	-	-	-	-	DOCK3	NM_004947,p.M902I|ENST00000266037,p.M902I|uc011bds.2,p.M902I	protein_coding	uc011bds.2	nonsynonymous SNV	exon26	c.G2706A	p.M902I	SSLEADVMEEVEMMVESLLDVLLQT	SSLEADVMEEVEIMVESLLDVLLQT	3.0	9.0	-	-	4283_3:51315068-51315068 G>A_SSLEADVMEEVEIMVESLLDVLLQT
7:86468989-86468989 C>T	0.0	4283	COLON	-	-	-	2	GRM3	ENST00000536043,p.A592V|ENST00000546348,p.A312V|ENST00000361669,p.A720V|uc010leg.3,p.A592V|uc010leh.3,p.A312V|NM_000840,p.A720V|uc003uid.3,p.A720V	protein_coding	uc010leh.3	nonsynonymous SNV	exon2	c.C935T	p.A312V	ILEAPGTRRYTLAEKRETVILKCNV	ILEAPGTRRYTLVEKRETVILKCNV	1.0	5.0	-	-	4283_7:86468989-86468989 C>T_ILEAPGTRRYTLVEKRETVILKCNV
X:103498908-103498908 C>T	0.0	4283	COLON	-	-	-	-	ESX1	NM_153448,p.A145T|uc004ely.3,p.A145T|ENST00000372588,p.A145T	protein_coding	uc004ely.3	nonsynonymous SNV	exon2	c.G433A	p.A145T	PQPPERKRRRRTAFTQFQLQELENF	PQPPERKRRRRTTFTQFQLQELENF	2.0	10.0	-	-	4283_X:103498908-103498908 C>T_PQPPERKRRRRTTFTQFQLQELENF
9:18574215-18574215 C>T	0.0	4283	COLON	-	-	ID=COSM182261,COSM182260;OCCURENCE=1(large_intestine)	-	ADAMTSL1	ENST00000380548,p.T142M|ENST00000431052,p.T142M|NM_001040272,p.T142M|uc003znc.4,p.T142M|ENST00000380570,p.T142M|ENST00000380566,p.T142M|NM_052866,p.T142M|ENST00000327883,p.T142M|uc003znb.3,p.T142M|ENST00000276935,p.T142M|uc003zne.4,p.T142M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zne.4	nonsynonymous SNV	exon4	c.C425T	p.T142M	LVVELAPKVLDGTRCYTESLDMCIS	LVVELAPKVLDGMRCYTESLDMCIS	5.0	2.0	-	-	4283_9:18574215-18574215 C>T_LVVELAPKVLDGMRCYTESLDMCIS
2:139537787-139537787 C>T	0.0	4283	COLON	-	-	-	-	NXPH2	ENST00000272641,p.V9M|NM_007226,p.V9M|uc002tvi.3,p.V9M	protein_coding	uc002tvi.3	nonsynonymous SNV	exon1	c.G25A	p.V9M	MRLRPLPLVVVPGLLQLLFCD	MRLRPLPLMVVPGLLQLLFCD	1.0	2.0	-	-	4283_2:139537787-139537787 C>T_MRLRPLPLMVVPGLLQLLFCD
7:12417546-12417546 G>T	0.0	4283	COLON	-	-	-	-	VWDE	ENST00000521169,p.L294I|ENST00000452576,p.L294I|uc003ssj.2,p.L294I|NM_001135924,p.L294I|ENST00000275358,p.L294I	retained_intron, protein_coding, nonsense_mediated_decay	uc003ssj.2	nonsynonymous SNV	exon7	c.C880A	p.L294I	AIESQEFFAGFKLQPELSTISEDGK	AIESQEFFAGFKIQPELSTISEDGK	4.0	2.0	-	-	4283_7:12417546-12417546 G>T_AIESQEFFAGFKIQPELSTISEDGK
11:613096-613096 C>T	1.0	4283	COLON	-	-	-	-	IRF7	uc010qwh.2,p.R127Q|uc001lqg.3,p.R433Q|ENST00000397574,p.R420Q|ENST00000330243,p.R433Q|uc009ycb.3,p.R314Q|ENST00000397570,p.R391Q|ENST00000525445,p.R314Q|uc010qwg.2,p.R127Q|ENST00000397562,p.R127Q|ENST00000397566,p.R433Q|NM_004029,p.R391Q|uc031pxz.1,p.R404Q|NM_004031,p.R433Q|ENST00000348655,p.R391Q|uc001lqf.3,p.R127Q|NM_001572,p.R420Q|uc001lqh.3,p.R420Q|uc010qwf.2,p.R419Q|uc001lqi.3,p.R391Q	retained_intron, protein_coding, nonsense_mediated_decay	uc031pxz.1	nonsynonymous SNV	exon7	c.G1211A	p.R404Q	RVFFQELVEFRARQRRGSPRYTIYL	RVFFQELVEFRAQQRRGSPRYTIYL	7.0	4.0	-	-	4283_11:613096-613096 C>T_RVFFQELVEFRAQQRRGSPRYTIYL
11:92568117-92568117 C>A	0.0	4283	COLON	-	-	-	2	FAT3	ENST00000298047,p.T3318N|ENST00000409404,p.T3318N|NM_001008781,p.T3318N|ENST00000525166,p.T3168N|uc001pdj.4,p.T3318N	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon14	c.C9953A	p.T3318N	RFYLVVEAKDGGTPALSAVATVNIN	RFYLVVEAKDGGNPALSAVATVNIN	4.0	10.0	unscreened	-	4283_11:92568117-92568117 C>A_RFYLVVEAKDGGNPALSAVATVNIN
2:179434979-179434979 C>G	0.0	4283	COLON	-	-	-	-	TTN	uc031rqd.1,p.E23653Q|ENST00000591111,p.E23653Q|ENST00000342992,p.E22726Q|ENST00000460472,p.E16229Q|uc021vta.2,p.E16354Q|uc021vsz.2,p.E16421Q|NM_003319,p.E16229Q|NM_001267550,p.E25294Q|uc021vsy.2,p.E22726Q|NM_133432,p.E16354Q|uc031rqc.1,p.E25294Q|uc021vtb.2,p.E16229Q|ENST00000589042,p.E25294Q|ENST00000359218,p.E16354Q|ENST00000342175,p.E16421Q|NM_001256850,p.E23653Q|NM_133378,p.E22726Q|NM_133437,p.E16421Q	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G70957C	p.E23653Q	VNKYGVGEPLESEPVVAKNPFVVPD	VNKYGVGEPLESQPVVAKNPFVVPD	5.0	2.0	-	-	4283_2:179434979-179434979 C>G_VNKYGVGEPLESQPVVAKNPFVVPD
X:56292043-56292043 A>C	0.0	4283	COLON	-	-	-	-	KLF8	NM_001159296,p.K171T|ENST00000374928,p.K171T|ENST00000468660,p.K171T|ENST00000358094,p.K171T|uc011mop.2,p.K171T|uc031tjr.1,p.K166T|uc004dur.3,p.K171T|uc010nkg.2,p.K166T|uc031tjs.1,p.K171T|NM_007250,p.K171T	retained_intron, protein_coding, nonsense_mediated_decay	uc031tjs.1	nonsynonymous SNV	exon3	c.A512C	p.K171T	VIHTIPSVSLPNKMGGLKTIPVVVQ	VIHTIPSVSLPNTMGGLKTIPVVVQ	5.0	3.0	-	-	4283_X:56292043-56292043 A>C_VIHTIPSVSLPNTMGGLKTIPVVVQ
2:71148374-71148374 C>T	0.0	4283	COLON	-	-	ID=COSM1240629;OCCURENCE=1(oesophagus)	-	VAX2	ENST00000234392,p.R132C|uc002shh.3,p.R132C|NM_012476,p.R132C	protein_coding	uc002shh.3	nonsynonymous SNV	exon2	c.C394T	p.R132C	EFQRCQYVVGRERTELARQLNLSET	EFQRCQYVVGRECTELARQLNLSET	1.0	8.0	-	-	4283_2:71148374-71148374 C>T_EFQRCQYVVGRECTELARQLNLSET
2:80529911-80529911 G>A	0.0	4283	COLON	-	-	-	-	LRRTM1	NM_178839,p.P345L|ENST00000295057,p.P345L|ENST00000433224,p.P345L|ENST00000409148,p.P345L|uc021vjt.1,p.P345L|ENST00000417012,p.P345L|uc002sok.1,p.P345L	protein_coding, nonsense_mediated_decay	uc021vjt.1	nonsynonymous SNV	exon1	c.C1034T	p.P345L	QGRYDGNLQCASPEYAQGEDVLDAV	QGRYDGNLQCASLEYAQGEDVLDAV	2.0	4.0	-	-	4283_2:80529911-80529911 G>A_QGRYDGNLQCASLEYAQGEDVLDAV
X:99662665-99662665 C>T	0.0	4283	COLON	-	-	-	-	PCDH19	NM_001184880,p.V311M|ENST00000373034,p.V311M|ENST00000255531,p.V311M|uc004efw.4,p.V311M|ENST00000420881,p.V311M|NM_020766,p.V311M|NM_001105243,p.V311M|uc004efx.4,p.V311M|uc010nmz.3,p.V311M	protein_coding, processed_transcript	uc010nmz.3	nonsynonymous SNV	exon1	c.G931A	p.V311M	TVTGALDYEEGHVYELDVQAKDLGP	TVTGALDYEEGHMYELDVQAKDLGP	3.0	5.0	-	-	4283_X:99662665-99662665 C>T_TVTGALDYEEGHMYELDVQAKDLGP
8:52321554-52321554 G>A	0.0	4283	COLON	-	-	-	-	PXDNL	NM_144651,p.T877M|uc003xqu.4,p.T877M|ENST00000522628,p.T143M|ENST00000543296,p.T877M|ENST00000356297,p.T877M	retained_intron, protein_coding, nonsense_mediated_decay	uc003xqu.4	nonsynonymous SNV	exon17	c.C2630T	p.T877M	SSPACASGRPSATVDSVYAREQINQ	SSPACASGRPSAMVDSVYAREQINQ	3.0	9.0	-	-	4283_8:52321554-52321554 G>A_SSPACASGRPSAMVDSVYAREQINQ
22:23653975-23653975 ->CCGG	0.0	4283	COLON	-	-	-	1	BCR	NM_004327,p.S1092fs|uc002zww.3,p.S1092fs|ENST00000359540,p.S1048fs|ENST00000305877,p.S1092fs|uc002zwx.3,p.S1048fs|NM_021574,p.S1048fs|uc011aiy.2,p.S681fs	retained_intron, protein_coding, processed_transcript	uc011aiy.2	frameshift insertion	exon19	c.2041_2042insCCGG	p.S681fs	RRGMEEVGIYRVSGVATDIQALKAA	RRGMEEVGIYRVSGRCGHGHPGTEGSLRRQ	10.0	7.0	-	-	4283_22:23653975-23653975 ->CCGG_RRGMEEVGIYRVSGRCGHGHPGTEGSLRRQ
19:56196948-56196948 C>T	1.0	4283	COLON	-	-	-	-	EPN1	NM_001130071,p.R250W|uc002qlw.3,p.R139W|ENST00000085079,p.R139W|ENST00000270460,p.R139W|uc002qlx.3,p.R250W|NM_013333,p.R139W|NM_001130072,p.R139W|ENST00000411543,p.R250W|uc002qlv.3,p.R139W|uc010etd.3,p.R139W	retained_intron, protein_coding, processed_transcript	uc010etd.3	nonsynonymous SNV	exon3	c.C415T	p.R139W	AKQLVALLRDEDRLREERAHALKTK	AKQLVALLRDEDWLREERAHALKTK	10.0	7.0	-	-	4283_19:56196948-56196948 C>T_AKQLVALLRDEDWLREERAHALKTK
11:15247244-15247244 C>T	0.0	4283	COLON	-	-	ID=COSM1581048;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	INSC	uc001mmc.4,p.A305V|NM_001278315,p.A347V|NM_001278314,p.A382V|ENST00000424273,p.A305V|ENST00000379556,p.A347V|ENST00000379554,p.A394V|uc001mma.4,p.A347V|ENST00000528567,p.A347V|NM_001278313,p.A347V|uc010rcs.3,p.A382V|uc001mlz.4,p.A347V|uc001mly.4,p.A394V|uc001mmb.4,p.A347V|NM_001031853,p.A394V|ENST00000530161,p.A347V|NM_001042536,p.A347V|ENST00000525218,p.A305V|NM_001278316,p.A305V	protein_coding, processed_transcript	uc010rcs.3	nonsynonymous SNV	exon9	c.C1145T	p.A382V	EASSGEVFLLASAALANITFFDTMA	EASSGEVFLLASVALANITFFDTMA	4.0	9.0	-	-	4283_11:15247244-15247244 C>T_EASSGEVFLLASVALANITFFDTMA
X:104464156-104464156 C>A	0.0	4283	COLON	-	-	-	-	TEX13A	uc004emb.3,p.S241I|ENST00000372578,p.S241I|ENST00000372575,p.S241I	protein_coding	uc004emb.3	nonsynonymous SNV	exon3	c.G722T	p.S241I	WRPGLPPWRPQRSWRESSCSSLEML	WRPGLPPWRPQRIWRESSCSSLEML	1.0	10.0	-	-	4283_X:104464156-104464156 C>A_WRPGLPPWRPQRIWRESSCSSLEML
1:169096481-169096481 A>C	1.0	4283	COLON	-	-	-	-	ATP1B1	ENST00000367813,p.K126N|NM_001677,p.K134N|ENST00000367816,p.K134N|ENST00000367815,p.K134N|ENST00000499679,p.K78N|uc001gfr.1,p.K134N	protein_coding, processed_transcript	uc001gfr.1	nonsynonymous SNV	exon4	c.A402C	p.K134N	IFEDCGDVPSEPKERGDFNHERGER	IFEDCGDVPSEPNERGDFNHERGER	10.0	2.0	-	-	4283_1:169096481-169096481 A>C_IFEDCGDVPSEPNERGDFNHERGER
11:57971400-57971400 G>A	0.0	4283	COLON	-	-	-	-	OR1S2	uc010rkb.2,p.S85F|ENST00000302592,p.S85F|NM_001004459,p.S85F	protein_coding	uc010rkb.2	nonsynonymous SNV	exon1	c.C254T	p.S85F	YLFLAYLSFADISSISNSVPKMLVN	YLFLAYLSFADIFSISNSVPKMLVN	1.0	3.0	-	-	4283_11:57971400-57971400 G>A_YLFLAYLSFADIFSISNSVPKMLVN
8:35542115-35542115 C>A	0.0	4283	COLON	-	-	-	-	UNC5D	ENST00000416672,p.S256Y|uc003xjt.1,p.S25Y|ENST00000453357,p.S251Y|NM_080872,p.S256Y|uc003xjr.2,p.S256Y|ENST00000404895,p.S256Y|uc003xjs.2,p.S251Y	retained_intron, protein_coding	uc003xjt.1	nonsynonymous SNV	exon2	c.C74A	p.S25Y	SATVVVYVNGGWSSWTEWSACNVRC	SATVVVYVNGGWYSWTEWSACNVRC	1.0	9.0	-	-	4283_8:35542115-35542115 C>A_SATVVVYVNGGWYSWTEWSACNVRC
11:7982089-7982089 C>A	0.0	4283	COLON	-	-	ID=COSM1217441;OCCURENCE=2(large_intestine)	-	NLRP10	NM_176821,p.C357F|uc001mfv.1,p.C357F|ENST00000328600,p.C357F	protein_coding	uc001mfv.1	nonsynonymous SNV	exon2	c.G1070T	p.C357F	DILYKACQVPGICWVVCSWLQGQME	DILYKACQVPGIFWVVCSWLQGQME	1.0	7.0	-	-	4283_11:7982089-7982089 C>A_DILYKACQVPGIFWVVCSWLQGQME
18:67531657-67531657 T>G	0.0	4283	COLON	-	-	-	-	CD226	ENST00000280200,p.S302R|uc010dqo.3,p.S302R|ENST00000577287,p.S147R|ENST00000582621,p.S302R|ENST00000581982,p.S147R|NM_006566,p.S302R|uc021uli.1,p.S147R|uc002lkm.4,p.S302R	protein_coding, nonsense_mediated_decay	uc021uli.1	nonsynonymous SNV	exon5	c.A439C	p.S147R	SWDTQKAPNNYRSPISTSQPTNQSM	SWDTQKAPNNYRRPISTSQPTNQSM	6.0	2.0	unscreened	-	4283_18:67531657-67531657 T>G_SWDTQKAPNNYRRPISTSQPTNQSM
8:145557259-145557259 G>A	1.0	4283	COLON	-	-	-	-	SCRT1	uc003zbw.1,p.T212M|ENST00000332135,p.T212M|NM_031309,p.T212M	protein_coding	uc003zbw.1	nonsynonymous SNV	exon2	c.C635T	p.T212M	YATSSNLSRHKQTHRSLDSQLARRC	YATSSNLSRHKQMHRSLDSQLARRC	2.0	10.0	-	-	4283_8:145557259-145557259 G>A_YATSSNLSRHKQMHRSLDSQLARRC
11:1030309-1030309 C>T	0.0	4283	COLON	-	-	-	-	MUC6	NM_005961,p.V307M|ENST00000421673,p.V307M|uc001lsw.2,p.V307M	protein_coding	uc001lsw.2	nonsynonymous SNV	exon8	c.G919A	p.V307M	GLCSVGQCPANQVYQECGSACVKTC	GLCSVGQCPANQMYQECGSACVKTC	2.0	9.0	-	-	4283_11:1030309-1030309 C>T_GLCSVGQCPANQMYQECGSACVKTC
1:176833572-176833572 G>A	0.0	4283	COLON	-	-	-	-	ASTN1	uc001glc.3,p.R1245C|ENST00000361833,p.R1245C|ENST00000367654,p.R1253C|NM_004319,p.R1245C	protein_coding, processed_transcript	uc001glc.3	nonsynonymous SNV	exon23	c.C3733T	p.R1245C	NGLLQEPKISLRRSSLKYLGCRYSE	NGLLQEPKISLRCSSLKYLGCRYSE	1.0	7.0	-	-	4283_1:176833572-176833572 G>A_NGLLQEPKISLRCSSLKYLGCRYSE
1:60505825-60505825 T>A	0.0	4283	COLON	-	-	-	-	C1orf87	ENST00000371201,p.T171S|NM_152377,p.T171S|uc001czs.2,p.T171S	protein_coding, processed_transcript	uc001czs.2	nonsynonymous SNV	exon5	c.A511T	p.T171S	QPEDIGQSPSGTTNEDAFLLALVRR	QPEDIGQSPSGTSNEDAFLLALVRR	2.0	1.0	-	-	4283_1:60505825-60505825 T>A_QPEDIGQSPSGTSNEDAFLLALVRR
19:38379432-38379432 ->T	0.0	4283	COLON	-	-	ID=COSM1393291;OCCURENCE=1(large_intestine)	-	WDR87	uc002ohj.2,p.R1627fs|ENST00000447313,p.R1627fs|uc010efu.2,p.R1588fs|NM_001291088,p.R1627fs|ENST00000303868,p.R1588fs|NM_031951,p.R1588fs	retained_intron, protein_coding	uc010efu.2	frameshift insertion	exon6	c.4761dupA	p.R1588fs	RIHRKRARAEKKRAQEERKLAQEEE	RIHRKRARAEKKTSPRREEISTRRRETCTRRETVGPGREKTGPGIRENNPG	1.0	7.0	unscreened	-	4283_19:38379432-38379432 ->T_RIHRKRARAEKKTSPRREEISTRRRETCTRRETVGPGREKTGPGIRENNPG
1:247200764-247200764 G>T	1.0	4283	COLON	-	-	-	-	ZNF670	ENST00000366503,p.A386D|uc021plz.1,p.A385D|uc001icd.2,p.A386D|NM_001204220,p.A385D|NM_033213,p.A386D	protein_coding, nonsense_mediated_decay	uc021plz.1	nonsynonymous SNV	exon4	c.C1154A	p.A385D	FSCSSSLRKHERAYMW	FSCSSSLRKHERDYMW	6.0	5.0	-	-	4283_1:247200764-247200764 G>T_FSCSSSLRKHERDYMW
8:94747059-94747083 AAGTTTTCAAAAGCACCAACTGAGT>-	0.0	4283	COLON	-	-	-	-	RBM12B	uc003yfz.3,p.Y519fs|uc022aye.1,p.Y519fs|ENST00000399300,p.Y519fs|NM_203390,p.Y519fs|ENST00000517700,p.Y519fs	protein_coding, processed_transcript	uc022aye.1	frameshift deletion	exon1	c.1556_1580del	p.Y519fs	HSHLFDSKDPPIYSVGAFENFRHQL	HSHLFDSKDPPILDIS	6.0	5.0	-	-	4283_8:94747059-94747083 AAGTTTTCAAAAGCACCAACTGAGT>-_HSHLFDSKDPPILDIS
10:131671836-131671836 C>T	0.0	4283	COLON	-	-	-	-	EBF3	ENST00000355311,p.V221M|uc001lki.2,p.V221M|ENST00000368648,p.V221M|uc021qav.2,p.V221M|NM_001005463,p.V221M	protein_coding, processed_transcript	uc021qav.2	nonsynonymous SNV	exon8	c.G661A	p.V221M	RRFQVVVSTTVNVDGHVLAVSDNMF	RRFQVVVSTTVNMDGHVLAVSDNMF	1.0	9.0	-	-	4283_10:131671836-131671836 C>T_RRFQVVVSTTVNMDGHVLAVSDNMF
7:71177084-71177084 C>T	0.0	4283	COLON	-	-	ID=COSM1451919;OCCURENCE=1(large_intestine)	-	WBSCR17	NM_022479,p.R584C|uc003tvz.4,p.R283C|ENST00000333538,p.R584C|uc003tvy.4,p.R584C	protein_coding, processed_transcript	uc003tvz.4	nonsynonymous SNV	exon11	c.C847T	p.R283C	ENRGLAGIDLILRSCTGQRWTIKNS	ENRGLAGIDLILCSCTGQRWTIKNS	4.0	9.0	-	-	4283_7:71177084-71177084 C>T_ENRGLAGIDLILCSCTGQRWTIKNS
6:25727338-25727338 G>A	0.0	4283	COLON	-	-	-	-	HIST1H2BA	ENST00000274764,p.V68I|uc003nfd.3,p.V68I|NM_170610,p.V68I	protein_coding	uc003nfd.3	nonsynonymous SNV	exon1	c.G202A	p.V68I	ISSKAMSIMNSFVTDIFERIASEAS	ISSKAMSIMNSFITDIFERIASEAS	2.0	9.0	-	-	4283_6:25727338-25727338 G>A_ISSKAMSIMNSFITDIFERIASEAS
8:116632185-116632185 T>G	0.0	4283	COLON	-	-	-	-	TRPS1	NM_001282902,p.N38T|NM_001282903,p.N40T|uc003ynz.3,p.N34T|ENST00000519674,p.N34T|ENST00000220888,p.N34T|ENST00000519815,p.N47T|ENST00000519076,p.N34T|ENST00000422939,p.N47T|uc011lhy.2,p.N38T|uc010mcy.3,p.N34T|ENST00000520276,p.N38T|ENST00000395715,p.N47T|uc003yny.3,p.N47T|ENST00000395713,p.N47T|NM_014112,p.N47T|ENST00000517323,p.N38T	protein_coding, nonsense_mediated_decay	uc011lhy.2	nonsynonymous SNV	exon2	c.A113C	p.N38T	EPIGTESKVSGKNKEFSADQMSENT	EPIGTESKVSGKTKEFSADQMSENT	7.0	3.0	-	-	4283_8:116632185-116632185 T>G_EPIGTESKVSGKTKEFSADQMSENT
20:30037928-30037928 G>T	0.0	4283	COLON	-	-	-	-	DEFB123	uc002wvy.3,p.C52F|NM_153324,p.C52F|ENST00000376309,p.C52F	protein_coding	uc002wvy.3	nonsynonymous SNV	exon2	c.G155T	p.C52F	ERVYVYCINNKMCCVKPKYQPKERW	ERVYVYCINNKMFCVKPKYQPKERW	1.0	1.0	-	-	4283_20:30037928-30037928 G>T_ERVYVYCINNKMFCVKPKYQPKERW
9:39078720-39078720 G>A	0.0	4283	COLON	-	rs75327168	-	-	CNTNAP3	ENST00000297668,p.R1214W|NM_033655,p.R1214W|uc004abi.3,p.R1214W|uc004abj.3,p.R1133W|ENST00000377656,p.R1133W	protein_coding, processed_transcript, nonsense_mediated_decay	uc004abj.3	nonsynonymous SNV	exon21	c.C3397T	p.R1133W	RCAAGAASGSPARELAPRLAGGAGR	RCAAGAASGSPAWELAPRLAGGAGR	5.0	6.0	unscreened	-	4283_9:39078720-39078720 G>A_RCAAGAASGSPAWELAPRLAGGAGR
19:6664966-6664966 G>A	0.0	4283	COLON	-	-	-	-	TNFSF14	ENST00000599359,p.R232W|uc002mfj.2,p.R196W|ENST00000245912,p.R196W|uc002mfk.2,p.R232W|ENST00000326176,p.R196W|NM_003807,p.R232W|NM_172014,p.R196W	protein_coding	uc002mfk.2	nonsynonymous SNV	exon5	c.C694T	p.R232W	LDERLVRLRDGTRSYFGAFMV	LDERLVRLRDGTWSYFGAFMV	4.0	7.0	-	-	4283_19:6664966-6664966 G>A_LDERLVRLRDGTWSYFGAFMV
14:24040238-24040238 C>T	0.0	4283	COLON	-	-	ID=COSM954821;OCCURENCE=1(endometrium),1(large_intestine)	-	JPH4	uc001wkr.2,p.A568T|NM_032452,p.A568T|uc001wkq.2,p.A568T|ENST00000544177,p.A233T|ENST00000397118,p.A568T|ENST00000356300,p.A568T|uc010tnr.1,p.A233T|NM_001146028,p.A568T	retained_intron, protein_coding	uc010tnr.1	nonsynonymous SNV	exon3	c.G697A	p.A233T	LRAPAGTEPEPIAMLVLRGSSSRGP	LRAPAGTEPEPITMLVLRGSSSRGP	3.0	4.0	-	-	4283_14:24040238-24040238 C>T_LRAPAGTEPEPITMLVLRGSSSRGP
15:22833543-22833543 C>T	0.0	4283	COLON	-	-	-	-	TUBGCP5	ENST00000453949,p.P7S|NM_052903,p.P7S|uc001yur.4,p.P7S|ENST00000283645,p.P7S|NM_001102610,p.P7S|uc001yuq.2,p.P7S	retained_intron, protein_coding, processed_transcript	uc001yur.4	nonsynonymous SNV	exon1	c.C19T	p.P7S	MARHGPPWSRLDAQQERDV	MARHGPSWSRLDAQQERDV	7.0	4.0	-	-	4283_15:22833543-22833543 C>T_MARHGPSWSRLDAQQERDV
5:179563511-179563511 C>T	0.0	4283	COLON	-	-	-	-	RASGEF1C	ENST00000393371,p.R102Q|uc003mlr.3,p.R102Q|ENST00000361132,p.R102Q|uc003mlq.3,p.R102Q|NM_175062,p.R102Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc003mlr.3	nonsynonymous SNV	exon4	c.G305A	p.R102Q	QQQLDKPVLDKARVRKFGPKLLQLL	QQQLDKPVLDKAQVRKFGPKLLQLL	1.0	7.0	-	-	4283_5:179563511-179563511 C>T_QQQLDKPVLDKAQVRKFGPKLLQLL
10:134015483-134015483 G>A	0.0	4283	COLON	-	-	-	-	DPYSL4	ENST00000338492,p.A382T|ENST00000368629,p.A282T|uc009ybb.3,p.A382T|NM_006426,p.A382T|ENST00000368627,p.A282T	protein_coding, processed_transcript	uc009ybb.3	nonsynonymous SNV	exon11	c.G1144A	p.A382T	VASGKMDENEFVAVTSTNAAKIFNF	VASGKMDENEFVTVTSTNAAKIFNF	4.0	7.0	-	-	4283_10:134015483-134015483 G>A_VASGKMDENEFVTVTSTNAAKIFNF
5:154135395-154135397 GAA>-	0.0	4283	COLON	-	-	-	-	LARP1	uc021ygi.1,p.26_27del	retained_intron, protein_coding, nonsense_mediated_decay	uc021ygi.1	nonframeshift deletion	exon1	c.78_80del	p.26_27del	TLLQAEEHGGLVRKKPPPAPEGKGE	TLLQAEEHGGLVRKPPPAPEGKGEP	10.0	3.0	-	-	4283_5:154135395-154135397 GAA>-_TLLQAEEHGGLVRKPPPAPEGKGEP
2:29222115-29222115 G>A	1.0	4283	COLON	-	-	-	-	FAM179A	uc010ezl.3,p.G70R|ENST00000403861,p.G70R|uc010ymm.2,p.G70R|NM_199280,p.G70R|ENST00000379558,p.G70R	retained_intron, protein_coding, processed_transcript	uc010ymm.2	nonsynonymous SNV	exon4	c.G208A	p.G70R	NNEEPSQLLRGLGQLGGLKLDTPSK	NNEEPSQLLRGLRQLGGLKLDTPSK	4.0	8.0	-	-	4283_2:29222115-29222115 G>A_NNEEPSQLLRGLRQLGGLKLDTPSK
X:120181713-120181713 G>A	0.0	4283	COLON	-	-	-	-	GLUD2	ENST00000328078,p.D59N|NM_012084,p.D59N|uc004eto.3,p.D59N	protein_coding	uc004eto.3	nonsynonymous SNV	exon1	c.G175A	p.D59N	LAARRHYSELVADREDDPNFFKMVE	LAARRHYSELVANREDDPNFFKMVE	5.0	6.0	-	-	4283_X:120181713-120181713 G>A_LAARRHYSELVANREDDPNFFKMVE
13:114150292-114150292 G>C	1.0	4283	COLON	-	-	-	-	TMCO3	ENST00000434316,p.K132N|NM_017905,p.K132N|ENST00000375391,p.K132N|uc001vtu.4,p.K132N|uc001vtt.4,p.K132N	protein_coding, processed_transcript	uc001vtu.4	nonsynonymous SNV	exon2	c.G396C	p.K132N	ALQGDYKDVVNMKESSRQRLEALRE	ALQGDYKDVVNMNESSRQRLEALRE	8.0	6.0	-	-	4283_13:114150292-114150292 G>C_ALQGDYKDVVNMNESSRQRLEALRE
5:80626307-80626307 A>C	0.0	4283	COLON	-	-	-	-	ACOT12	NM_130767,p.L525R|uc003khl.4,p.L525R|ENST00000307624,p.L525R	retained_intron, protein_coding, processed_transcript	uc003khl.4	nonsynonymous SNV	exon15	c.T1574G	p.L525R	MSASILPYFAGNLGGWSKSIEETAA	MSASILPYFAGNRGGWSKSIEETAA	1.0	3.0	-	-	4283_5:80626307-80626307 A>C_MSASILPYFAGNRGGWSKSIEETAA
5:76926558-76926558 C>T	0.0	4283	COLON	-	-	-	-	OTP	uc003kfg.3,p.R170H|NM_032109,p.R170H|ENST00000306422,p.R170H	protein_coding, processed_transcript	uc003kfg.3	nonsynonymous SNV	exon3	c.G509A	p.R170H	KWKKRKKTTNVFRAPGTLLPTPGLP	KWKKRKKTTNVFHAPGTLLPTPGLP	1.0	5.0	-	-	4283_5:76926558-76926558 C>T_KWKKRKKTTNVFHAPGTLLPTPGLP
18:14513663-14513663 C>T	0.0	4283	COLON	-	rs1949282	ID=COSM473638;OCCURENCE=1(kidney),1(NS)	-	POTEC	uc010dln.3,p.E511K|ENST00000358970,p.E511K|NM_001137671,p.E511K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dln.3	nonsynonymous SNV	exon10	c.G1531A	p.E511K	KQIEVAEKKMNSELSLSHKKEEDLL	KQIEVAEKKMNSKLSLSHKKEEDLL	2.0	2.0	-	-	4283_18:14513663-14513663 C>T_KQIEVAEKKMNSKLSLSHKKEEDLL
12:132834406-132834406 G>A	0.0	4283	COLON	-	-	-	-	GALNT9	NM_001122636,p.R261W|uc001ukb.3,p.R118W|ENST00000328957,p.R261W|uc001ukc.4,p.R261W|uc009zys.3,p.R261W	retained_intron, protein_coding, processed_transcript	uc009zys.3	nonsynonymous SNV	exon5	c.C781T	p.R261W	EFNTGWAEPALSRIREDRRRIVLPA	EFNTGWAEPALSWIREDRRRIVLPA	1.0	8.0	-	-	4283_12:132834406-132834406 G>A_EFNTGWAEPALSWIREDRRRIVLPA
1:24669505-24669505 G>A	1.0	4283	COLON	-	-	-	-	GRHL3	ENST00000236255,p.R475H|ENST00000342072,p.R377H|NM_198174,p.R470H|uc001biy.3,p.R475H|NM_021180,p.R475H|ENST00000350501,p.R470H|ENST00000356046,p.R424H|NM_001195010,p.R424H|uc001biz.3,p.R377H|uc021oix.1,p.R424H|uc001bix.3,p.R470H|uc021oiw.1,p.R470H|ENST00000361548,p.R470H|NM_198173,p.R470H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021oix.1	nonsynonymous SNV	exon11	c.G1271A	p.R424H	LFIPNVHFSSLQRSGGAAPSAGPSS	LFIPNVHFSSLQHSGGAAPSAGPSS	5.0	9.0	-	-	4283_1:24669505-24669505 G>A_LFIPNVHFSSLQHSGGAAPSAGPSS
1:205308335-205308335 G>T	0.0	4283	COLON	-	-	-	-	KLHDC8A	ENST00000367155,p.F248L|NM_001271864,p.F248L|uc010prg.2,p.F114L|uc001hcg.2,p.F248L|NM_001271863,p.F248L|uc031prw.1,p.F248L|NM_018203,p.F248L|uc001hcf.2,p.F248L|ENST00000606181,p.F114L|NM_001271865,p.F248L|ENST00000539253,p.F248L|uc031prx.1,p.F248L|ENST00000537168,p.F135L|ENST00000460687,p.F114L|ENST00000367156,p.F248L	protein_coding, processed_transcript	uc031prx.1	nonsynonymous SNV	exon5	c.C744A	p.F248L	YRQPKFLRTMDVFDMEQGGWLKMER	YRQPKFLRTMDVLDMEQGGWLKMER	3.0	3.0	-	-	4283_1:205308335-205308335 G>T_YRQPKFLRTMDVLDMEQGGWLKMER
1:34238173-34238173 C>T	0.0	4283	COLON	-	-	-	-	CSMD2	ENST00000338325,p.V223M	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000338325	nonsynonymous SNV	exon7	c.G667A	p.V223M	KNNQWSAKKPGCVCK	KNNQWSAKKPGCMCK	4.0	8.0	unscreened	-	4283_1:34238173-34238173 C>T_KNNQWSAKKPGCMCK
X:123514957-123514957 G>T	0.0	4283	COLON	-	-	-	-	TENM1	uc010nqy.3,p.T2543K|ENST00000371130,p.T2536K|uc011muj.2,p.T2542K|NM_001163279,p.T2542K|NM_001163278,p.T2543K|NM_014253,p.T2536K|uc004euj.3,p.T2536K|ENST00000422452,p.T2543K	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon32	c.C7625A	p.T2542K	KGIKFAIKDGIVTADIIGVANEDSR	KGIKFAIKDGIVKADIIGVANEDSR	3.0	5.0	-	-	4283_X:123514957-123514957 G>T_KGIKFAIKDGIVKADIIGVANEDSR
5:140723941-140723941 T>G	0.0	4283	COLON	-	-	-	-	PCDHGA3	NM_018916,p.L114W|NM_032011,p.L114W|uc011dap.2,p.L114W|uc003ljm.2,p.L114W|ENST00000253812,p.L114W	protein_coding	uc011dap.2	nonsynonymous SNV	exon1	c.T341G	p.L114W	CLVKINILVEDKLKIFEVEIEIKDI	CLVKINILVEDKWKIFEVEIEIKDI	4.0	8.0	-	-	4283_5:140723941-140723941 T>G_CLVKINILVEDKWKIFEVEIEIKDI
1:34238173-34238173 C>T	0.0	4283	COLON	-	-	-	-	CSMD2	ENST00000241312,p.V575M|NM_001281956,p.V615M|NM_052896,p.V575M|ENST00000373381,p.V615M|uc001bxm.1,p.V615M|uc001bxn.1,p.V575M	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon13	c.G1723A	p.V575M	KNNQWSAKKPGCVFSCFFNFTSPSG	KNNQWSAKKPGCMFSCFFNFTSPSG	4.0	8.0	-	-	4283_1:34238173-34238173 C>T_KNNQWSAKKPGCMFSCFFNFTSPSG
12:53004589-53004589 C>T	0.0	4283	COLON	-	-	ID=COSM1728226;OCCURENCE=1(liver)	-	KRT73	uc001sas.3,p.A381T|ENST00000305748,p.A381T|NM_175068,p.A381T|ENST00000552855,p.A126T	retained_intron, protein_coding	uc001sas.3	nonsynonymous SNV	exon7	c.G1141A	p.A381T	KQCANLETAIADAEQRGDCALKDAR	KQCANLETAIADTEQRGDCALKDAR	3.0	8.0	-	-	4283_12:53004589-53004589 C>T_KQCANLETAIADTEQRGDCALKDAR
2:206480391-206480391 G>T	0.0	4283	COLON	-	-	-	-	PARD3B	ENST00000358768,p.D1096Y|NM_205863,p.D1057Y|uc002vao.2,p.D1057Y|NM_057177,p.D1089Y|uc002var.2,p.D1158Y|ENST00000351153,p.D1089Y|ENST00000406610,p.D1158Y|ENST00000349953,p.D1057Y|uc002vap.2,p.D1096Y|uc002vaq.2,p.D1089Y|NM_152526,p.D1096Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc002var.2	nonsynonymous SNV	exon23	c.G3472T	p.D1158Y	PPAPQHKGPFRQDVPPSPPQHQRMP	PPAPQHKGPFRQYVPPSPPQHQRMP	7.0	5.0	-	-	4283_2:206480391-206480391 G>T_PPAPQHKGPFRQYVPPSPPQHQRMP
10:78729774-78729774 C>G	0.0	4283	COLON	-	-	-	-	KCNMA1	ENST00000604624,p.G580A|ENST00000372437,p.G708A|NM_001271518,p.G665A|uc001jxk.1,p.G391A|uc001jxm.3,p.G715A|uc001jxq.3,p.G718A|ENST00000372440,p.G715A|uc001jxo.3,p.G715A|ENST00000354353,p.G776A|ENST00000286627,p.G715A|NM_001161353,p.G715A|uc009xrt.1,p.G564A|uc001jxj.2,p.G719A|ENST00000404771,p.G773A|uc001jxl.1,p.G398A|NM_001161352,p.G773A|ENST00000286628,p.G773A|ENST00000406533,p.G777A|NM_001271519,p.G718A|ENST00000457953,p.G747A|ENST00000404857,p.G715A|NM_001014797,p.G719A|uc001jxn.3,p.G773A|uc021ptu.1,p.G665A|NM_002247,p.G715A|ENST00000372408,p.G652A|ENST00000372443,p.G715A	protein_coding, processed_transcript	uc021ptu.1	nonsynonymous SNV	exon19	c.G1994C	p.G665A	PSTLSPKKKQRNGGMRNSPNTSPKL	PSTLSPKKKQRNAGMRNSPNTSPKL	7.0	4.0	-	-	4283_10:78729774-78729774 C>G_PSTLSPKKKQRNAGMRNSPNTSPKL
14:70634343-70634343 C>T	0.0	4283	COLON	-	-	ID=COSM1370816,COSM673575;OCCURENCE=1(endometrium),1(large_intestine),1(pancreas)	-	SLC8A3	uc001xlw.3,p.R266H|ENST00000534137,p.R266H|ENST00000356921,p.R266H|uc001xly.3,p.R266H|NM_182932,p.R266H|uc001xlz.3,p.R266H|NM_033262,p.R266H|ENST00000494208,p.R266H|NM_058240,p.R266H|uc001xlx.3,p.R266H|ENST00000528359,p.R266H|ENST00000381269,p.R266H|ENST00000357887,p.R266H|NM_183002,p.R266H	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xlz.3	nonsynonymous SNV	exon2	c.G797A	p.R266H	RLLFYKYMHKKYRTDKHRGIIIETE	RLLFYKYMHKKYHTDKHRGIIIETE	3.0	4.0	-	-	4283_14:70634343-70634343 C>T_RLLFYKYMHKKYHTDKHRGIIIETE
11:78780961-78780961 C>T	0.0	4283	COLON	-	-	-	-	TENM4	uc009yvc.3,p.R10H|uc021qnz.1,p.R10H|uc001ozl.4,p.R10H|ENST00000278550,p.R10H|NM_001098816,p.R10H	retained_intron, protein_coding, processed_transcript	uc021qnz.1	nonsynonymous SNV	exon1	c.G29A	p.R10H	MDVKERKPYRSLTRRRDAERRY	MDVKERKPYHSLTRRRDAERRY	5.0	6.0	-	-	4283_11:78780961-78780961 C>T_MDVKERKPYHSLTRRRDAERRY
4:144545459-144545459 ->T	0.0	4283	COLON	-	-	-	-	FREM3	ENST00000329798,p.D1819fs|NM_001168235,p.D1819fs|uc021xsj.1,p.D1819fs	protein_coding, processed_transcript	uc021xsj.1	frameshift insertion	exon4	c.5454dupA	p.D1819fs	ISIGTKDETAKKDKDFKWKTNKQIQ	ISIGTKDETAKKRQRFQMEDQ	2.0	4.0	-	-	4283_4:144545459-144545459 ->T_ISIGTKDETAKKRQRFQMEDQ
7:100028067-100028067 ->G	0.0	4283	COLON	-	-	-	-	MEPCE	uc003uuw.3,p.P142fs|ENST00000310512,p.P142fs|NM_019606,p.P142fs	retained_intron, protein_coding, processed_transcript	uc003uuw.3	frameshift insertion	exon1	c.427dupG	p.P142fs	PRPRNGYQPHRPPGGGGGKRRNSCN	PRPRNGYQPHRPPGGGRGQEEK	9.0	4.0	-	-	4283_7:100028067-100028067 ->G_PRPRNGYQPHRPPGGGRGQEEK
11:5529447-5529447 G>T	0.0	4283	COLON	-	-	-	-	UBQLN3	uc001may.1,p.L448M|uc021qcw.1,p.L448M|ENST00000311659,p.L448M|NM_017481,p.L448M	protein_coding	uc021qcw.1	nonsynonymous SNV	exon1	c.C1342A	p.L448M	GHSTNLPDLVSGLGDSANRVPFAPL	GHSTNLPDLVSGMGDSANRVPFAPL	2.0	6.0	-	-	4283_11:5529447-5529447 G>T_GHSTNLPDLVSGMGDSANRVPFAPL
5:111519756-111519756 G>C	0.0	4283	COLON	-	-	-	-	EPB41L4A	NM_022140,p.Q527E|uc003kpp.1,p.Q154E|ENST00000261486,p.Q527E|uc003kpv.1,p.Q527E	retained_intron, protein_coding, processed_transcript	uc003kpv.1	nonsynonymous SNV	exon18	c.C1579G	p.Q527E	WEAVLRRQKEKNQADPNNRRSRHRS	WEAVLRRQKEKNEADPNNRRSRHRS	6.0	6.0	unscreened	-	4283_5:111519756-111519756 G>C_WEAVLRRQKEKNEADPNNRRSRHRS
12:25055902-25055902 G>A	0.0	4283	COLON	-	-	-	-	BCAT1	ENST00000599478,p.G127R	 processed_transcript,protein_coding	ENST00000599478	nonsynonymous SNV	exon1	c.G379A	p.G127R	PGSRYLAGKGRSGAKRAGHGEAAGT	PGSRYLAGKGRSRAKRAGHGEAAGT	7.0	6.0	unscreened	-	4283_12:25055902-25055902 G>A_PGSRYLAGKGRSRAKRAGHGEAAGT
17:38519325-38519325 G>T	0.0	4283	COLON	-	-	-	-	GJD3	uc010cwz.3,p.P248Q|ENST00000578689,p.P248Q|NM_152219,p.P248Q	protein_coding	uc010cwz.3	nonsynonymous SNV	exon1	c.C743A	p.P248Q	KLLPPPPPPPPPPALPSRRPGPEPC	KLLPPPPPPPPPQALPSRRPGPEPC	4.0	5.0	-	-	4283_17:38519325-38519325 G>T_KLLPPPPPPPPPQALPSRRPGPEPC
15:85360739-85360739 C>G	0.0	4283	COLON	-	-	-	-	ALPK3	ENST00000258888,p.A221G|NM_020778,p.A221G|uc002ble.3,p.A221G	retained_intron, protein_coding	uc002ble.3	nonsynonymous SNV	exon1	c.C662G	p.A221G	PSRGWGAGGRSGAGGDGEDDGPVWI	PSRGWGAGGRSGGGGDGEDDGPVWI	5.0	5.0	-	-	4283_15:85360739-85360739 C>G_PSRGWGAGGRSGGGGDGEDDGPVWI
13:108518715-108518715 C>T	1.0	4283	COLON	-	rs141699731	-	-	FAM155A	ENST00000375915,p.R77Q|NM_001080396,p.R77Q|uc001vql.3,p.R77Q	protein_coding	uc001vql.3	nonsynonymous SNV	exon1	c.G230A	p.R77Q	TRARDKEHQQQQRQQQQQQQQQRQR	TRARDKEHQQQQQQQQQQQQQQRQR	5.0	4.0	unscreened	-	4283_13:108518715-108518715 C>T_TRARDKEHQQQQQQQQQQQQQQRQR
9:114145531-114145541 TGTCCAGAAGG>-	1.0	4283	COLON	-	-	-	-	KIAA0368	ENST00000259335,p.C1429fs|uc004bfe.1,p.C1429fs|NM_001080398,p.C1429fs|ENST00000338205,p.C1251fs	protein_coding, processed_transcript	uc004bfe.1	frameshift deletion	exon36	c.4287_4297del	p.C1429fs	AAGQRTIAALLPCLLDKGMMSTVTE	AAGQRTIAALLP	9.0	1.0	-	-	4283_9:114145531-114145541 TGTCCAGAAGG>-_AAGQRTIAALLP
8:100523397-100523397 A>T	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	VPS13B	ENST00000357162,p.K1430N|ENST00000358544,p.K1455N|uc003yiw.4,p.K1430N|uc003yiv.4,p.K1455N|NM_152564,p.K1430N|uc003yix.1,p.K925N|NM_017890,p.K1455N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yix.1	nonsynonymous SNV	exon18	c.A2775T	p.K925N	HQQHGFLSLTYTKAVTKNVRHKLTS	HQQHGFLSLTYTNAVTKNVRHKLTS	9.0	3.0	-	-	4309_8:100523397-100523397 A>T_HQQHGFLSLTYTNAVTKNVRHKLTS
4:72205081-72205081 C>T	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	SLC4A4	uc003hgc.4,p.S39F|ENST00000340595,p.S39F|uc003hgb.3,p.S39F|NM_003759,p.S39F|ENST00000512686,p.S39F	protein_coding, processed_transcript	uc003hgc.4	nonsynonymous SNV	exon1	c.C116T	p.S39F	VVQPMFNHSIFTSAVSPAAERIRFI	VVQPMFNHSIFTFAVSPAAERIRFI	9.0	8.0	-	-	4309_4:72205081-72205081 C>T_VVQPMFNHSIFTFAVSPAAERIRFI
1:11184589-11184589 C>G	1.0	4309	CHOLANGIOCARCINOMA	-	-	ID=COSM462592;OCCURENCE=1(kidney)	1	MTOR	ENST00000361445,p.A2210P|uc001asd.3,p.A2210P|uc001asc.3,p.A415P|ENST00000376838,p.A415P|NM_004958,p.A2210P	protein_coding, processed_transcript	uc001asd.3	nonsynonymous SNV	exon47	c.G6628C	p.A2210P	VMQLFGLVNTLLANDPTSLRKNLSI	VMQLFGLVNTLLPNDPTSLRKNLSI	7.0	9.0	-	-	4309_1:11184589-11184589 C>G_VMQLFGLVNTLLPNDPTSLRKNLSI
19:21366515-21366515 T>A	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	ZNF431	ENST00000311048,p.I470N|NM_133473,p.I470N|uc010ecq.2,p.I379N|uc002npp.2,p.I470N|uc010ecr.2,p.I471N	protein_coding, processed_transcript	uc010ecr.2	nonsynonymous SNV	exon5	c.T1412A	p.I471N	CEECGKAFSQSSILTTHKRIHTGEK	CEECGKAFSQSSNLTTHKRIHTGEK	10.0	4.0	unscreened	-	4309_19:21366515-21366515 T>A_CEECGKAFSQSSNLTTHKRIHTGEK
3:195508940-195508940 C>G	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	2	MUC4	ENST00000480843,p.V3171L|ENST00000477086,p.V3171L|ENST00000479406,p.V3171L|ENST00000463781,p.V3171L|NM_018406,p.V3171L|ENST00000470451,p.V3171L|uc021xjp.1,p.V3171L|ENST00000478156,p.V3171L|ENST00000466475,p.V3171L|ENST00000462323,p.V3171L|ENST00000475231,p.V3171L|ENST00000477756,p.V3171L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G9511C	p.V3171L	SSASTGQATPLPVTSLSSVSTGDTT	SSASTGQATPLPLTSLSSVSTGDTT	6.0	3.0	unscreened	-	4309_3:195508940-195508940 C>G_SSASTGQATPLPLTSLSSVSTGDTT
3:52443745-52443745 G>A	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	1	BAP1	uc003ddx.4,p.L18F|ENST00000490917,p.L18F|NM_004656,p.L18F|ENST00000296288,p.L18F|ENST00000460680,p.L18F	retained_intron, protein_coding, nonsense_mediated_decay	uc003ddx.4	nonsynonymous SNV	exon2	c.C52T	p.L18F	LELESDPGLFTLLVEDFGVKGVQVE	LELESDPGLFTLFVEDFGVKGVQVE	8.0	10.0	-	-	4309_3:52443745-52443745 G>A_LELESDPGLFTLFVEDFGVKGVQVE
7:30634583-30634585 CTG>-	1.0	4309	CHOLANGIOCARCINOMA	-	-	ID=COSM1724763;OCCURENCE=2(NS)	-	GARS	uc003tbm.3,p.16_16del|ENST00000454308,p.16_16del|NM_002047,p.16_16del|ENST00000389266,p.16_16del	retained_intron, protein_coding, nonsense_mediated_decay	uc003tbm.3	nonframeshift deletion	exon1	c.46_48del	p.16_16del	PRPVLLRGARAALLLLLPPRLLARP	PRPVLLRGARAALLLLPPRLLARPS	10.0	1.0	-	-	4309_7:30634583-30634585 CTG>-_PRPVLLRGARAALLLLPPRLLARPS
17:40270030-40270068 CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG>-	0.0	4309	CHOLANGIOCARCINOMA	-	-	ID=COSM979421;OCCURENCE=1(endometrium)	-	KAT2A	NM_021078,p.394_396del|ENST00000225916,p.394_396del|uc002hyx.2,p.394_396del	retained_intron, protein_coding, nonsense_mediated_decay	uc002hyx.2	nonframeshift deletion	exon8	c.1181_1186del	p.394_396del	PPSEGTQLVPRPASVSAAVVPSTPI	PPSEGTQLVPRPVSAAVVPSTPIFS	8.0	3.0	unscreened	-	4309_17:40270030-40270068 CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG>-_PPSEGTQLVPRPVSAAVVPSTPIFS
1:200818536-200818536 A>T	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	CAMSAP2	ENST00000236925,p.Y891F|NM_203459,p.Y880F|NM_001297707,p.Y891F|ENST00000358823,p.Y880F|ENST00000413307,p.Y864F|NM_001297708,p.Y864F|uc001gvl.3,p.Y891F|uc001gvm.3,p.Y864F|uc001gvk.3,p.Y880F	retained_intron, protein_coding, nonsense_mediated_decay	uc001gvm.3	nonsynonymous SNV	exon11	c.A2591T	p.Y864F	SEETLNEGEILEYTKSIEKLNSSLH	SEETLNEGEILEFTKSIEKLNSSLH	9.0	8.0	-	-	4309_1:200818536-200818536 A>T_SEETLNEGEILEFTKSIEKLNSSLH
2:171906620-171906620 C>A	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	TLK1	NM_001136554,p.R218L|uc002ugp.2,p.R218L|ENST00000521943,p.R218L|NM_012290,p.R266L|ENST00000434911,p.R170L|ENST00000442919,p.R218L|ENST00000409443,p.R266L|ENST00000360843,p.R287L|uc002ugn.2,p.R266L|uc010zdn.1,p.R170L|uc002ugo.2,p.R287L|NM_001136555,p.R170L|uc002ugr.1,p.R49L|ENST00000431350,p.R266L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zdn.1	nonsynonymous SNV	exon7	c.G509T	p.R170L	DEQQKLLEKYKERLNKCISMSKKLL	DEQQKLLEKYKELLNKCISMSKKLL	10.0	9.0	CD8	-	4309_2:171906620-171906620 C>A_DEQQKLLEKYKELLNKCISMSKKLL
19:19916881-19916881 G>A	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	ZNF506	ENST00000587452,p.P62L|uc010ecj.3,p.P62L|uc010eci.2,p.P62L|ENST00000443905,p.P62L|ENST00000590766,p.P62L|ENST00000587461,p.P62L|NM_001099269,p.P62L|ENST00000545006,p.P62L|ENST00000540806,p.P62L|ENST00000591639,p.P62L|ENST00000586260,p.P62L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ecj.3	nonsynonymous SNV	exon3	c.C185T	p.P62L	PNLITCLEQGKKPLTMKRHEMIAKP	PNLITCLEQGKKLLTMKRHEMIAKP	10.0	5.0	-	-	4309_19:19916881-19916881 G>A_PNLITCLEQGKKLLTMKRHEMIAKP
10:111883975-111883975 A>C	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	ADD3	ENST00000360162,p.K448N|uc001kys.4,p.K448N|uc001kyv.3,p.K448N|uc001kyw.3,p.K448N|ENST00000277900,p.K448N|ENST00000356080,p.K448N|uc001kyx.3,p.K21N|NM_001121,p.K448N|uc001kyt.4,p.K448N|uc001kyu.3,p.K448N|NM_016824,p.K448N|NM_019903,p.K448N	protein_coding, processed_transcript	uc001kyx.3	nonsynonymous SNV	exon1	c.A63C	p.K21N	KTRWLNSPNTYMKVNVPEESRNGET	KTRWLNSPNTYMNVNVPEESRNGET	9.0	1.0	-	-	4309_10:111883975-111883975 A>C_KTRWLNSPNTYMNVNVPEESRNGET
11:34988333-34988334 TA>-	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	PDHX	NM_001135024,p.V248fs|ENST00000227868,p.V263fs|uc001mvt.3,p.V263fs|uc010rep.2,p.V248fs|NM_003477,p.V263fs|ENST00000448838,p.V248fs	retained_intron, protein_coding, processed_transcript	uc010rep.2	frameshift deletion	exon6	c.743_744del	p.V248fs	AGPSYPRPVIPPVSTPGQPNAVGTF	AGPSYPRPVIPPVNSWTTQCSGHIH	9.0	10.0	-	-	4309_11:34988333-34988334 TA>-_AGPSYPRPVIPPVNSWTTQCSGHIH
10:46342668-46342688 GCTCCTGCCATCCTGTCCCCA>-	0.0	4309	CHOLANGIOCARCINOMA	-	-	ID=COSM301646;OCCURENCE=1(central_nervous_system),1(NS)	-	AGAP4	NM_133446,p.36_43del|uc010qfl.2,p.36_43del|uc021pps.1,p.36_43del|NM_001276343,p.36_43del|uc001jcx.4,p.36_43del	retained_intron, protein_coding, processed_transcript	uc021pps.1	nonframeshift deletion	exon1	c.108_128del	p.36_43del	VCPSESEIYEAGAGDRMAGAPMAAA	VCPSESEIYEAGAPMAAAVQPAEVT	10.0	6.0	unscreened	-	4309_10:46342668-46342688 GCTCCTGCCATCCTGTCCCCA>-_VCPSESEIYEAGAPMAAAVQPAEVT
19:54849267-54849267 C>T	0.0	4309	CHOLANGIOCARCINOMA	-	-	ID=COSM1712801;OCCURENCE=1(skin)	-	LILRA4	uc002qfj.3,p.E199K|ENST00000291759,p.E199K|uc002qfi.3,p.E133K|NM_012276,p.E199K	retained_intron, protein_coding, non_stop_decay	uc002qfj.3	nonsynonymous SNV	exon4	c.G595A	p.E199K	FSNRGTFRCYGYENNTPYVWSEPSD	FSNRGTFRCYGYKNNTPYVWSEPSD	7.0	1.0	-	-	4309_19:54849267-54849267 C>T_FSNRGTFRCYGYKNNTPYVWSEPSD
12:51135235-51135235 A>G	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	DIP2B	uc009zlt.3,p.D894G|uc001rwv.3,p.D1464G|ENST00000301180,p.D1464G|NM_173602,p.D1464G	retained_intron, protein_coding, nonsense_mediated_decay	uc009zlt.3	nonsynonymous SNV	exon26	c.A2681G	p.D894G	ERHDALYVVGALDETLELRGLRYHP	ERHDALYVVGALGETLELRGLRYHP	9.0	9.0	-	-	4309_12:51135235-51135235 A>G_ERHDALYVVGALGETLELRGLRYHP
16:87724047-87724047 A>G	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	JPH3	NM_020655,p.D694G|uc002fkd.4,p.D694G|ENST00000284262,p.D694G	protein_coding, processed_transcript	uc002fkd.4	nonsynonymous SNV	exon4	c.A2081G	p.D694G	RLGGAEPRLLRWDLTFSPPQKSLPV	RLGGAEPRLLRWGLTFSPPQKSLPV	5.0	2.0	-	-	4309_16:87724047-87724047 A>G_RLGGAEPRLLRWGLTFSPPQKSLPV
16:55857576-55857576 C>A	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	CES1	ENST00000422046,p.G141V|NM_001025195,p.G142V|uc002ein.3,p.G141V|NM_001266,p.G141V|NM_001025194,p.G141V|ENST00000360526,p.G142V|uc002eim.3,p.G141V|ENST00000361503,p.G141V|uc002eil.3,p.G142V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ein.3	nonsynonymous SNV	exon4	c.G422T	p.G141V	KKNRLPVMVWIHGGGLMVGAASTYD	KKNRLPVMVWIHVGGLMVGAASTYD	8.0	5.0	unscreened	-	4309_16:55857576-55857576 C>A_KKNRLPVMVWIHVGGLMVGAASTYD
3:195509476-195509476 A>G	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	2	MUC4	ENST00000480843,p.L2992P|ENST00000477086,p.L2992P|ENST00000475231,p.L2992P|uc021xjp.1,p.L2992P|ENST00000462323,p.L2992P|NM_018406,p.L2992P|ENST00000466475,p.L2992P|ENST00000478156,p.L2992P|ENST00000463781,p.L2992P|ENST00000479406,p.L2992P|ENST00000470451,p.L2992P|ENST00000477756,p.L2992P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.T8975C	p.L2992P	TDTSSASTGHATLLPVTDTSSASIG	TDTSSASTGHATPLPVTDTSSASIG	6.0	3.0	unscreened	-	4309_3:195509476-195509476 A>G_TDTSSASTGHATPLPVTDTSSASIG
3:195506531-195506531 G>T	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	2	MUC4	uc021xjp.1,p.R3974S|NM_018406,p.R3974S|ENST00000479406,p.R3974S|ENST00000477756,p.R3974S|ENST00000477086,p.R3974S|ENST00000478156,p.R3974S|ENST00000462323,p.R3974S|ENST00000466475,p.R3974S|ENST00000463781,p.R3974S|ENST00000475231,p.R3974S|ENST00000470451,p.R3974S|ENST00000480843,p.R3974S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C11920A	p.R3974S	STGHATSLPVTSRSSASTGHATPLP	STGHATSLPVTSSSSASTGHATPLP	6.0	2.0	unscreened	-	4309_3:195506531-195506531 G>T_STGHATSLPVTSSSSASTGHATPLP
1:98039508-98039508 C>T	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	DPYD	ENST00000370192,p.E383K|NM_000110,p.E383K|uc001drv.3,p.E383K	protein_coding, processed_transcript	uc001drv.3	nonsynonymous SNV	exon11	c.G1147A	p.E383K	RAVPEEMELAKEEKCEFLPFLSPRK	RAVPEEMELAKEKKCEFLPFLSPRK	10.0	7.0	-	-	4309_1:98039508-98039508 C>T_RAVPEEMELAKEKKCEFLPFLSPRK
8:17872266-17872266 G>A	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	1	PCM1	ENST00000325083,p.E1920K|uc022asj.1,p.E1959K|uc011kyh.2,p.E1912K|ENST00000519253,p.E1912K|ENST00000327578,p.E619K|uc011kyk.2,p.E536K|uc011kyi.2,p.E719K|NM_006197,p.E1920K|uc003wyi.4,p.E1920K|uc003wyk.4,p.E602K|uc011kyj.2,p.E676K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022asj.1	nonsynonymous SNV	exon35	c.G5875A	p.E1959K	LPEMEPLVPRVKEVKSAQETPESSL	LPEMEPLVPRVKKVKSAQETPESSL	10.0	2.0	-	-	4309_8:17872266-17872266 G>A_LPEMEPLVPRVKKVKSAQETPESSL
20:58482440-58482440 C>T	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	SYCP2	ENST00000371001,p.V338I|NM_014258,p.V338I|ENST00000446834,p.V338I|ENST00000357552,p.V338I|uc002yaz.3,p.V338I|uc010gju.1,p.V239I	retained_intron, protein_coding, processed_transcript	uc010gju.1	nonsynonymous SNV	exon10	c.G715A	p.V239I	HQWEAVTVPEEKVQIYSIEVRESKK	HQWEAVTVPEEKIQIYSIEVRESKK	5.0	1.0	-	-	4309_20:58482440-58482440 C>T_HQWEAVTVPEEKIQIYSIEVRESKK
5:115298783-115298783 G>A	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	AQPEP	ENST00000357872,p.E157K|uc003kro.3,p.E157K|ENST00000504467,p.E157K|NM_173800,p.E157K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kro.3	nonsynonymous SNV	exon1	c.G469A	p.E157K	LLHSLFQDCERAEVRGPLSPGTGNA	LLHSLFQDCERAKVRGPLSPGTGNA	4.0	8.0	-	-	4309_5:115298783-115298783 G>A_LLHSLFQDCERAKVRGPLSPGTGNA
12:57859468-57859468 A>C	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	2	GLI1	ENST00000546141,p.T164P|ENST00000532291,p.T77P|ENST00000228682,p.T205P|NM_005269,p.T205P|ENST00000543426,p.T77P|uc021qzi.1,p.T164P|uc009zpq.3,p.T77P|uc001snx.3,p.T205P|NM_001160045,p.T77P|ENST00000528467,p.T164P|NM_001167609,p.T164P	retained_intron, protein_coding	uc021qzi.1	nonsynonymous SNV	exon5	c.A490C	p.T164P	EPLEGDMSSPNSTGIQDPLLGMLDG	EPLEGDMSSPNSPGIQDPLLGMLDG	5.0	7.0	unscreened	-	4309_12:57859468-57859468 A>C_EPLEGDMSSPNSPGIQDPLLGMLDG
16:745058-745061 GTCC>-	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	FBXL16	uc002cja.3,p.R138fs	retained_intron, protein_coding, processed_transcript	uc002cja.3	frameshift deletion	exon1	c.413_416del	p.R138fs	VPSGATTGVYASRTLASAICPPCRP	VPSGATTGVYASHWPQLSVHHVVPPQPLPAMVLPGARLRA	2.0	7.0	unscreened	-	4309_16:745058-745061 GTCC>-_VPSGATTGVYASHWPQLSVHHVVPPQPLPAMVLPGARLRA
1:171310599-171310599 A>G	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	FMO4	NM_002022,p.Y433C|uc001gho.3,p.Y433C|ENST00000367749,p.Y433C	protein_coding, processed_transcript	uc001gho.3	nonsynonymous SNV	exon10	c.A1298G	p.Y433C	KDTSKDKFDYIAYMDDIAACIGTKP	KDTSKDKFDYIACMDDIAACIGTKP	6.0	6.0	-	-	4309_1:171310599-171310599 A>G_KDTSKDKFDYIACMDDIAACIGTKP
14:73712397-73712397 G>A	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	PAPLN	uc010ttx.2,p.R75H|ENST00000381166,p.R75H|uc010tty.2,p.R75H|ENST00000427855,p.R75H|ENST00000555123,p.R75H|uc001xnw.4,p.R75H|NM_173462,p.R75H|ENST00000216658,p.R75H|ENST00000340738,p.R75H|ENST00000555445,p.R75H|ENST00000554301,p.R75H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tty.2	nonsynonymous SNV	exon3	c.G224A	p.R75H	SCVGPARSHRSCRTESCPDGARDFR	SCVGPARSHRSCHTESCPDGARDFR	8.0	9.0	-	-	4309_14:73712397-73712397 G>A_SCVGPARSHRSCHTESCPDGARDFR
1:186039785-186039785 C>A	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	HMCN1	NM_031935,p.L2679I|ENST00000271588,p.L2679I|ENST00000367492,p.L2679I|uc001grq.1,p.L2679I	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon52	c.C8035A	p.L2679I	PIINKGDLWGPGLSPKEVKIKVNNT	PIINKGDLWGPGISPKEVKIKVNNT	8.0	3.0	-	-	4309_1:186039785-186039785 C>A_PIINKGDLWGPGISPKEVKIKVNNT
4:54231995-54231995 C>A	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	SCFD2	uc010igm.3,p.W38C|uc003gzu.3,p.W38C|NM_152540,p.W38C|ENST00000388940,p.W38C|ENST00000401642,p.W38C	protein_coding	uc010igm.3	nonsynonymous SNV	exon1	c.G114T	p.W38C	VYLDAACAESLHWGCGSTRLLEAVG	VYLDAACAESLHCGCGSTRLLEAVG	7.0	8.0	-	-	4309_4:54231995-54231995 C>A_VYLDAACAESLHCGCGSTRLLEAVG
3:192635423-192635423 C>A	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	2	MB21D2	NM_178496,p.M69I|ENST00000392452,p.M69I|uc011bsp.2,p.M69I	protein_coding	uc011bsp.2	nonsynonymous SNV	exon1	c.G207T	p.M69I	LEIHTAKDFIFSMLGMVQKLDQKLP	LEIHTAKDFIFSILGMVQKLDQKLP	4.0	9.0	-	-	4309_3:192635423-192635423 C>A_LEIHTAKDFIFSILGMVQKLDQKLP
22:29622517-29622517 C>T	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	EMID1	ENST00000429226,p.R148W|uc003aem.4,p.R148W|ENST00000334018,p.R148W|ENST00000404755,p.R148W|ENST00000430127,p.R120W|NM_133455,p.R148W|ENST00000404820,p.R148W|NM_001267895,p.R146W|uc003aen.4,p.R146W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003aen.4	nonsynonymous SNV	exon5	c.C436T	p.R146W	CLNCSKVSELTERLKVLEAKMTMLT	CLNCSKVSELTEWLKVLEAKMTMLT	4.0	10.0	-	-	4309_22:29622517-29622517 C>T_CLNCSKVSELTEWLKVLEAKMTMLT
17:65822206-65822206 ->A	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	BPTF	NM_182641,p.N122fs|ENST00000321892,p.N122fs|uc002jge.3,p.N122fs|NM_004459,p.N122fs|uc010wqm.1,p.N122fs|ENST00000306378,p.N122fs|ENST00000335221,p.N122fs|ENST00000544778,p.N122fs|uc002jgf.3,p.N122fs	retained_intron, protein_coding, processed_transcript	uc010wqm.1	frameshift insertion	exon1	c.367dupA	p.N122fs	HLARTTAARRAVNKVVYDDHESEEE	HLARTTAARRAVNKSGVR	9.0	6.0	-	-	4309_17:65822206-65822206 ->A_HLARTTAARRAVNKSGVR
12:56604199-56604199 C>T	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	RNF41	NM_005785,p.A82T|uc010sqg.2,p.A17T|NM_194359,p.A82T|NM_001242826,p.A82T|ENST00000552656,p.A82T|uc001skg.2,p.A82T|uc001skf.2,p.A82T|ENST00000549038,p.A82T|ENST00000552244,p.A82T|ENST00000345093,p.A82T|uc021qyz.1,p.A82T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qyz.1	nonsynonymous SNV	exon4	c.G244A	p.A82T	RIMRNMLSKLQIACDNAVFGCSAVV	RIMRNMLSKLQITCDNAVFGCSAVV	9.0	9.0	-	-	4309_12:56604199-56604199 C>T_RIMRNMLSKLQITCDNAVFGCSAVV
19:55284986-55284986 C>T	0.0	4309	CHOLANGIOCARCINOMA	-	rs687485	ID=COSM3404605;OCCURENCE=1(central_nervous_system)	-	KIR2DL1	ENST00000336077,p.T91M|NM_014218,p.T91M|uc002qhb.1,p.T91M|ENST00000291633,p.T91M|uc010erz.1,p.T91M	protein_coding	uc010erz.1	nonsynonymous SNV	exon3	c.C272T	p.T91M	GVSKANFSISRMTQDLAGTYRCYGS	GVSKANFSISRMMQDLAGTYRCYGS	1.0	6.0	-	-	4309_19:55284986-55284986 C>T_GVSKANFSISRMMQDLAGTYRCYGS
2:60688951-60688951 C>G	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	1	BCL11A	ENST00000358510,p.A332P|ENST00000335712,p.A366P|uc002saf.1,p.A332P|ENST00000538214,p.A332P|ENST00000356842,p.A366P|NM_022893,p.A366P|NM_018014,p.A366P|uc002sad.1,p.A214P|uc002sae.1,p.A366P|uc002sab.3,p.A366P|uc010ypj.2,p.A332P	protein_coding, processed_transcript	uc010ypj.2	nonsynonymous SNV	exon3	c.G994C	p.A332P	FLATPPLPPLQSAPPPSQPPVKSKS	FLATPPLPPLQSPPPPSQPPVKSKS	6.0	1.0	-	-	4309_2:60688951-60688951 C>G_FLATPPLPPLQSPPPPSQPPVKSKS
10:135438635-135438635 T>G	0.0	4309	CHOLANGIOCARCINOMA	-	rs74762197	-	-	FRG2B	uc010qvg.2,p.T269P|ENST00000443774,p.T270P|NM_001080998,p.T269P|ENST00000425520,p.T269P	protein_coding, processed_transcript	uc010qvg.2	nonsynonymous SNV	exon4	c.A805C	p.T269P	EAHPFPGQEITETVSGSDEAKL	EAHPFPGQEITEPVSGSDEAKL	3.0	10.0	-	-	4309_10:135438635-135438635 T>G_EAHPFPGQEITEPVSGSDEAKL
14:29261309-29261309 A>C	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	LINC01551	uc001wqf.3,p.K116Q|ENST00000399387,p.K116Q	protein_coding, processed_transcript	uc001wqf.3	nonsynonymous SNV	exon3	c.A346C	p.K116Q	DVSPEKVTSALKKTNKQTTTINNFP	DVSPEKVTSALKQTNKQTTTINNFP	1.0	10.0	unscreened	-	4309_14:29261309-29261309 A>C_DVSPEKVTSALKQTNKQTTTINNFP
1:145302775-145302775 T>G	1.0	4309	CHOLANGIOCARCINOMA	-	rs71241610	-	-	NBPF10	ENST00000342960,p.Y405D|NM_001039703,p.Y405D|uc031poc.1,p.Y405D|uc021oul.2,p.Y405D|ENST00000369339,p.Y134D|ENST00000369338,p.Y134D|uc001emq.1,p.Y134D|ENST00000490598,p.Y405D|uc021ouk.1,p.Y405D	protein_coding, processed_transcript	uc031poc.1	nonsynonymous SNV	exon8	c.T1213G	p.Y405D	SLNEHLQALLTPYEPDKSQGQDLQE	SLNEHLQALLTPDEPDKSQGQDLQE	10.0	4.0	-	-	4309_1:145302775-145302775 T>G_SLNEHLQALLTPDEPDKSQGQDLQE
14:23828951-23828951 C>T	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	EFS	NM_032459,p.G153R|uc001wjo.4,p.G246R|ENST00000216733,p.G246R|ENST00000351354,p.G153R|NM_005864,p.G246R|uc001wjp.4,p.G153R	protein_coding	uc001wjp.4	nonsynonymous SNV	exon3	c.G457A	p.G153R	EAPEELLADGEGGGTDEGIYDVPLL	EAPEELLADGEGRGTDEGIYDVPLL	2.0	10.0	-	-	4309_14:23828951-23828951 C>T_EAPEELLADGEGRGTDEGIYDVPLL
12:57859469-57859469 C>A	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	2	GLI1	ENST00000543426,p.T77K|ENST00000528467,p.T164K|uc001snx.3,p.T205K|NM_001160045,p.T77K|ENST00000546141,p.T164K|uc009zpq.3,p.T77K|NM_005269,p.T205K|NM_001167609,p.T164K|uc021qzi.1,p.T164K|ENST00000228682,p.T205K|ENST00000532291,p.T77K	retained_intron, protein_coding	uc021qzi.1	nonsynonymous SNV	exon5	c.C491A	p.T164K	EPLEGDMSSPNSTGIQDPLLGMLDG	EPLEGDMSSPNSKGIQDPLLGMLDG	5.0	7.0	unscreened	-	4309_12:57859469-57859469 C>A_EPLEGDMSSPNSKGIQDPLLGMLDG
5:176939332-176939332 T>C	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	DDX41	uc003mhp.3,p.K407E|ENST00000507955,p.K538E|uc003mho.3,p.K538E|ENST00000330503,p.K556E|NM_016222,p.K538E|uc003mhn.3,p.K407E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mhp.3	nonsynonymous SNV	exon14	c.A1219G	p.K407E	SGNTGIATTFINKACDESVLMDLKA	SGNTGIATTFINEACDESVLMDLKA	9.0	8.0	-	-	4309_5:176939332-176939332 T>C_SGNTGIATTFINEACDESVLMDLKA
22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	1	LZTR1	uc011ahy.2,p.197_198del|ENST00000389355,p.197_198del|uc002zto.3,p.216_217del|uc002ztn.3,p.175_176del|uc010gsr.1,p.87_88del|NM_006767,p.216_217del|ENST00000215739,p.216_217del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahy.2	nonframeshift deletion	exon6	c.589_594del	p.197_198del	TIGLQDRELTCWEEVAQSGEIPPSC	TIGLQDRELTCWVAQSGEIPPSCCN	9.0	2.0	unscreened	-	4309_22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-_TIGLQDRELTCWVAQSGEIPPSCCN
16:745058-745061 GTCC>-	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	FBXL16	ENST00000562563,p.T174fs|ENST00000397621,p.T386fs|uc002cjb.3,p.T174fs|NM_153350,p.T386fs|uc021taa.1,p.T386fs|ENST00000324361,p.T386fs	retained_intron, protein_coding, processed_transcript	uc021taa.1	frameshift deletion	exon4	c.1158_1161del	p.T386fs	LEELVLDRCVRITDTGLSYLSTMSS	LEELVLDRCVRITLASAICPPCRPSAASTCDGAARCKTSG	2.0	7.0	-	-	4309_16:745058-745061 GTCC>-_LEELVLDRCVRITLASAICPPCRPSAASTCDGAARCKTSG
14:60007434-60007434 G>C	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	CCDC175	uc021rtw.1,p.I438M|ENST00000537690,p.I438M|NM_001164399,p.I438M|ENST00000281581,p.I438M	protein_coding	uc021rtw.1	nonsynonymous SNV	exon11	c.C1314G	p.I438M	LQQATKTVYQQQIKILSANLERESQ	LQQATKTVYQQQMKILSANLERESQ	1.0	7.0	-	-	4309_14:60007434-60007434 G>C_LQQATKTVYQQQMKILSANLERESQ
15:99456310-99456310 G>A	1.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	IGF1R	NM_001291858,p.A543T|uc010bon.3,p.A543T|ENST00000268035,p.A543T|uc002bul.3,p.A543T|NM_000875,p.A543T|ENST00000558762,p.A543T|uc010urq.2,p.A543T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010urq.2	nonsynonymous SNV	exon8	c.G1627A	p.A543T	PFKNVTEYDGQDACGSNSWNMVDVD	PFKNVTEYDGQDTCGSNSWNMVDVD	8.0	2.0	-	-	4309_15:99456310-99456310 G>A_PFKNVTEYDGQDTCGSNSWNMVDVD
20:43438909-43438909 C>G	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	RIMS4	NM_182970,p.E2Q|uc002xms.3,p.E2Q|ENST00000541604,p.E2Q|NM_001205317,p.E2Q|uc010ggu.3,p.E2Q|ENST00000372851,p.E2Q	protein_coding	uc010ggu.3	nonsynonymous SNV	exon1	c.G4C	p.E2Q	MERSQSRLSLSASF	MQRSQSRLSLSASF	1.0	5.0	-	-	4309_20:43438909-43438909 C>G_MQRSQSRLSLSASF
19:55258790-55258790 A>G	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	KIR2DL3	NM_015868,p.N223S|ENST00000342376,p.N223S|uc002qgz.1,p.N133S|uc010erw.1,p.N223S|uc002qgx.3,p.N223S	protein_coding	uc010erw.1	nonsynonymous SNV	exon5	c.A668G	p.N223S	NSSDPLLVSVTGNPSNSWPSPTEPS	NSSDPLLVSVTGSPSNSWPSPTEPS	2.0	1.0	-	-	4309_19:55258790-55258790 A>G_NSSDPLLVSVTGSPSNSWPSPTEPS
1:55081725-55081725 C>A	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	FAM151A	NM_176782,p.W128L|uc001cxn.3,p.W128L|ENST00000371304,p.W128L|ENST00000302250,p.W128L	protein_coding	uc001cxn.3	nonsynonymous SNV	exon3	c.G383T	p.W128L	PPTIYSDNTLEQWLDAVLGSSQKGI	PPTIYSDNTLEQLLDAVLGSSQKGI	1.0	4.0	-	-	4309_1:55081725-55081725 C>A_PPTIYSDNTLEQLLDAVLGSSQKGI
2:186669449-186669449 T>A	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	FSIP2	ENST00000424728,p.L5139Q|NM_173651,p.L5228Q|ENST00000343098,p.L5228Q|uc002upl.3,p.L5228Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.T15683A	p.L5228Q	GHVFPSTHTENELKEKKFPPDDEFV	GHVFPSTHTENEQKEKKFPPDDEFV	1.0	2.0	-	-	4309_2:186669449-186669449 T>A_GHVFPSTHTENEQKEKKFPPDDEFV
X:37028662-37028662 T>A	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	2	FAM47C	NM_001013736,p.C727S|uc004ddl.2,p.C727S|ENST00000358047,p.C727S	protein_coding	uc004ddl.2	nonsynonymous SNV	exon1	c.T2179A	p.C727S	HAEPPESRVSHLCPEPPETGVSHLR	HAEPPESRVSHLSPEPPETGVSHLR	3.0	5.0	-	-	4309_X:37028662-37028662 T>A_HAEPPESRVSHLSPEPPETGVSHLR
20:34060516-34060516 G>A	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	CEP250	ENST00000342580,p.D357N|ENST00000425934,p.D356N|uc021wco.1,p.D357N|NM_007186,p.D357N|ENST00000397527,p.D357N|ENST00000461386,p.D357N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wco.1	nonsynonymous SNV	exon12	c.G1069A	p.D357N	IKDITQVMVEEGDNIAQGSGHENSL	IKDITQVMVEEGNNIAQGSGHENSL	8.0	5.0	-	-	4309_20:34060516-34060516 G>A_IKDITQVMVEEGNNIAQGSGHENSL
4:8869663-8869663 G>A	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	HMX1	NM_018942,p.A268V|uc003izz.1,p.A268V|ENST00000400677,p.A268V	protein_coding	uc003izz.1	nonsynonymous SNV	exon2	c.C803T	p.A268V	NKWKRQLAAELEAASLSPPGAQRLV	NKWKRQLAAELEVASLSPPGAQRLV	3.0	6.0	-	-	4309_4:8869663-8869663 G>A_NKWKRQLAAELEVASLSPPGAQRLV
19:41351227-41351227 G>C	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	CYP2A6	uc010ehe.1,p.T174S	retained_intron, protein_coding, nonsense_mediated_decay	uc010ehe.1	nonsynonymous SNV	exon6	c.C521G	p.T174S	IPMSLARRVKKDTKFRDFFLPKVLS	IPMSLARRVKKDSKFRDFFLPKVLS	1.0	4.0	-	-	4309_19:41351227-41351227 G>C_IPMSLARRVKKDSKFRDFFLPKVLS
19:41351227-41351227 G>C	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	CYP2A6	NM_000762,p.T378S|ENST00000301141,p.T378S|uc002opl.4,p.T378S	retained_intron, protein_coding, nonsense_mediated_decay	uc002opl.4	nonsynonymous SNV	exon7	c.C1133G	p.T378S	IPMSLARRVKKDTKFRDFFLPKGTE	IPMSLARRVKKDSKFRDFFLPKGTE	1.0	4.0	-	-	4309_19:41351227-41351227 G>C_IPMSLARRVKKDSKFRDFFLPKGTE
12:11461706-11461706 G>T	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	PRB4	ENST00000445719,p.P71T|uc031qgh.1,p.P71T|uc001qzt.4,p.P71T|uc001qzf.2,p.P71T|NM_002723,p.P71T|ENST00000279575,p.P71T|ENST00000535904,p.P71T|NM_001261399,p.P71T	protein_coding	uc031qgh.1	nonsynonymous SNV	exon3	c.C211A	p.P71T	GPPPQGGNQSQGPPPPPGKPEGRPP	GPPPQGGNQSQGTPPPPGKPEGRPP	1.0	4.0	-	-	4309_12:11461706-11461706 G>T_GPPPQGGNQSQGTPPPPGKPEGRPP
12:11546572-11546572 C>T	0.0	4309	CHOLANGIOCARCINOMA	-	-	-	-	PRB2	ENST00000389362,p.G147D|NM_006248,p.G147D|uc010shk.1,p.G147D	protein_coding, processed_transcript	uc010shk.1	nonsynonymous SNV	exon3	c.G440A	p.G147D	PPGKPQGPPPQGGNKPQGPPPPGKP	PPGKPQGPPPQGDNKPQGPPPPGKP	1.0	5.0	-	-	4309_12:11546572-11546572 C>T_PPGKPQGPPPQGDNKPQGPPPPGKP
3:184059664-184059664 C>T	1.0	4310	MELANOMA	-	-	-	-	FAM131A	ENST00000310585,p.P15S|uc003fog.3,p.P15S	protein_coding, processed_transcript	uc003fog.3	nonsynonymous SNV	exon1	c.C43T	p.P15S	LATLSFLLPFAHPFGTVSCEYMLGS	LATLSFLLPFAHSFGTVSCEYMLGS	7.0	7.0	unscreened	-	4310_3:184059664-184059664 C>T_LATLSFLLPFAHSFGTVSCEYMLGS
12:110983760-110983760 T>A	1.0	4310	MELANOMA	-	-	-	-	PPTC7	uc001trh.1,p.Q176L|NM_139283,p.Q176L|ENST00000354300,p.Q176L	retained_intron, protein_coding	uc001trh.1	nonsynonymous SNV	exon3	c.A527T	p.Q176L	VRGGEVVHRSDEQQHYFNTPFQLSI	VRGGEVVHRSDELQHYFNTPFQLSI	6.0	3.0	-	-	4310_12:110983760-110983760 T>A_VRGGEVVHRSDELQHYFNTPFQLSI
19:11348450-11348450 G>A	1.0	4310	MELANOMA	-	-	-	-	DOCK6	ENST00000294618,p.P613L|NM_020812,p.P613L|uc002mqs.5,p.P613L	retained_intron, protein_coding, processed_transcript	uc002mqs.5	nonsynonymous SNV	exon17	c.C1838T	p.P613L	EAFTPVVYHNKSPEFYEEFKLHLPA	EAFTPVVYHNKSLEFYEEFKLHLPA	8.0	7.0	CD8	-	4310_19:11348450-11348450 G>A_EAFTPVVYHNKSLEFYEEFKLHLPA
22:20077647-20077647 C>T	1.0	4310	MELANOMA	-	-	-	2	DGCR8	uc010grz.3,p.P391L|uc002zri.3,p.P391L|NM_001190326,p.P391L|NM_022720,p.P391L|uc002zrj.3,p.P34L|ENST00000383024,p.P391L|ENST00000351989,p.P391L|ENST00000407755,p.P391L	retained_intron, protein_coding	uc010grz.3	nonsynonymous SNV	exon5	c.C1172T	p.P391L	VKPLSRSAELEFPLDEPDSMGADPG	VKPLSRSAELEFLLDEPDSMGADPG	7.0	10.0	-	-	4310_22:20077647-20077647 C>T_VKPLSRSAELEFLLDEPDSMGADPG
19:42880646-42880646 C>T	1.0	4310	MELANOMA	-	-	-	-	MEGF8	ENST00000334370,p.P2686S|ENST00000378073,p.P347S|NM_001410,p.P2686S|uc002otm.5,p.P2753S|uc002otl.4,p.P2686S|ENST00000251268,p.P2753S|uc002otn.4,p.P347S|NM_001271938,p.P2753S	retained_intron, protein_coding	uc002otn.4	nonsynonymous SNV	exon4	c.C1039T	p.P347S	GGPWGPMGGGCCPPAIPATTAGLRA	GGPWGPMGGGCCSPAIPATTAGLRA	6.0	2.0	-	-	4310_19:42880646-42880646 C>T_GGPWGPMGGGCCSPAIPATTAGLRA
7:83592579-83592579 G>A	1.0	4310	MELANOMA	-	-	-	-	SEMA3A	ENST00000265362,p.S601L|ENST00000436949,p.S601L|NM_006080,p.S601L|uc003uhz.3,p.S601L	protein_coding, processed_transcript	uc003uhz.3	nonsynonymous SNV	exon16	c.C1802T	p.S601L	ENSSTFLECSPKSQRALVYWQFQRR	ENSSTFLECSPKLQRALVYWQFQRR	8.0	9.0	-	-	4310_7:83592579-83592579 G>A_ENSSTFLECSPKLQRALVYWQFQRR
7:100463458-100463458 C>T	1.0	4310	MELANOMA	-	-	-	-	SLC12A9	uc003uwr.3,p.S395F|uc003uws.3,p.S190F|uc003uwt.3,p.S395F|NM_020246,p.S659F|uc011kki.2,p.S190F|ENST00000354161,p.S659F|uc003uwv.3,p.S190F|uc003uwp.4,p.S659F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kki.2	nonsynonymous SNV	exon9	c.C569T	p.S190F	FSEPADSTREGSSPALSTLFPPPRA	FSEPADSTREGSFPALSTLFPPPRA	7.0	10.0	-	-	4310_7:100463458-100463458 C>T_FSEPADSTREGSFPALSTLFPPPRA
1:63084483-63084483 G>A	1.0	4310	MELANOMA	-	-	-	-	DOCK7	NM_001272002,p.P526S|ENST00000404627,p.P526S|uc001dan.4,p.P526S|NM_001272001,p.P526S|uc001dap.4,p.P526S|uc001daq.4,p.P526S|NM_033407,p.P526S|ENST00000340370,p.P526S|ENST00000251157,p.P526S|uc001dao.4,p.P526S|NM_001271999,p.P526S|NM_001272000,p.P526S|uc009wah.2,p.P526S	protein_coding, processed_transcript	uc009wah.2	nonsynonymous SNV	exon14	c.C1576T	p.P526S	SPAPENPHYCLTPELLQVKLYPDSR	SPAPENPHYCLTSELLQVKLYPDSR	7.0	8.0	-	-	4310_1:63084483-63084483 G>A_SPAPENPHYCLTSELLQVKLYPDSR
16:31927690-31927690 G>T	1.0	4310	MELANOMA	-	-	-	-	ZNF267	ENST00000300870,p.R707L|uc031qvx.1,p.R675L|uc002ecs.5,p.R707L|uc031qvw.1,p.R451L|NM_001265588,p.R675L|NM_003414,p.R707L	protein_coding, nonsense_mediated_decay	uc031qvx.1	nonsynonymous SNV	exon5	c.G2024T	p.R675L	KAFSYRSYLTTHRRSHSGERPYKCE	KAFSYRSYLTTHLRSHSGERPYKCE	9.0	1.0	unscreened	-	4310_16:31927690-31927690 G>T_KAFSYRSYLTTHLRSHSGERPYKCE
1:228594171-228594171 C>A	1.0	4310	MELANOMA	-	-	-	-	TRIM11	ENST00000284551,p.C31F|ENST00000366699,p.C31F|uc001hst.1,p.C31F|uc001hss.3,p.C31F|NM_145214,p.C31F|uc010pvx.2,p.C31F	protein_coding, processed_transcript	uc010pvx.2	nonsynonymous SNV	exon1	c.G92T	p.C31F	CLDYFTDPVMTDCGHNFCRECIRRC	CLDYFTDPVMTDFGHNFCRECIRRC	5.0	10.0	-	-	4310_1:228594171-228594171 C>A_CLDYFTDPVMTDFGHNFCRECIRRC
1:208205080-208205080 C>T	1.0	4310	MELANOMA	-	-	-	-	PLXNA2	NM_025179,p.D1694N|uc001hgz.3,p.D1694N|ENST00000367033,p.D1694N	protein_coding, processed_transcript	uc001hgz.3	nonsynonymous SNV	exon29	c.G5080A	p.D1694N	LATKGTLQKFVDDLFETLFSTVHRG	LATKGTLQKFVDNLFETLFSTVHRG	8.0	1.0	-	-	4310_1:208205080-208205080 C>T_LATKGTLQKFVDNLFETLFSTVHRG
15:100247016-100247016 C>T	1.0	4310	MELANOMA	-	-	-	-	MEF2A	ENST00000354410,p.P316L|ENST00000453228,p.P314L|uc010urw.2,p.P324L|ENST00000449277,p.P246L|uc002bvf.3,p.P316L|uc002bvi.3,p.P314L|NM_001130926,p.P314L|NM_001130928,p.P246L|ENST00000558812,p.P254L|uc010urv.2,p.P254L|NM_001130927,p.P254L|NM_005587,p.P316L|uc010bos.3,p.P314L|uc002bve.3,p.P322L|NM_001171894,p.P314L|ENST00000557785,p.P314L|ENST00000338042,p.P323L|ENST00000557942,p.P322L|uc002bvg.3,p.P314L|uc010bot.3,p.P246L	retained_intron, protein_coding, processed_transcript	uc010urw.2	nonsynonymous SNV	exon9	c.C971T	p.P324L	TPVVSVTTPSLPPQGLVYSAMPTAY	TPVVSVTTPSLPLQGLVYSAMPTAY	10.0	5.0	-	-	4310_15:100247016-100247016 C>T_TPVVSVTTPSLPLQGLVYSAMPTAY
16:23456437-23456437 C>T	1.0	4310	MELANOMA	-	-	-	-	COG7	NM_153603,p.E123K|uc002dlo.3,p.E123K|ENST00000307149,p.E123K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dlo.3	nonsynonymous SNV	exon3	c.G367A	p.E123K	IDQVKSRMQLAAESLQEADKWSTLS	IDQVKSRMQLAAKSLQEADKWSTLS	8.0	6.0	CD8	-	4310_16:23456437-23456437 C>T_IDQVKSRMQLAAKSLQEADKWSTLS
19:13184271-13184271 G>A	1.0	4310	MELANOMA	-	-	-	-	NFIX	uc010xmx.2,p.G228R|ENST00000587260,p.G219R|NM_001271043,p.G228R|ENST00000360105,p.G223R|ENST00000585575,p.G212R|ENST00000587760,p.G212R|ENST00000397661,p.G220R|uc002mwd.3,p.G220R|NM_002501,p.G220R|ENST00000358552,p.G219R|uc002mwf.3,p.G223R|uc002mwg.2,p.G219R|ENST00000592199,p.G220R|NM_001271044,p.G212R|uc002mwe.4,p.G212R|ENST00000588228,p.G173R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xmx.2	nonsynonymous SNV	exon4	c.G682A	p.G228R	GHLSFQDCFVTSGVWNVTELVRVSQ	GHLSFQDCFVTSRVWNVTELVRVSQ	8.0	3.0	-	-	4310_19:13184271-13184271 G>A_GHLSFQDCFVTSRVWNVTELVRVSQ
15:100247015-100247015 C>T	1.0	4310	MELANOMA	-	-	-	-	MEF2A	uc010bot.3,p.P246S|uc010urw.2,p.P324S|NM_001130927,p.P254S|NM_001130926,p.P314S|ENST00000558812,p.P254S|ENST00000338042,p.P323S|uc010urv.2,p.P254S|ENST00000354410,p.P316S|uc010bos.3,p.P314S|uc002bvi.3,p.P314S|ENST00000557785,p.P314S|NM_005587,p.P316S|uc002bvf.3,p.P316S|NM_001171894,p.P314S|NM_001130928,p.P246S|uc002bve.3,p.P322S|uc002bvg.3,p.P314S|ENST00000557942,p.P322S|ENST00000453228,p.P314S|ENST00000449277,p.P246S	retained_intron, protein_coding, processed_transcript	uc010urw.2	nonsynonymous SNV	exon9	c.C970T	p.P324S	TPVVSVTTPSLPPQGLVYSAMPTAY	TPVVSVTTPSLPSQGLVYSAMPTAY	10.0	5.0	unscreened	-	4310_15:100247015-100247015 C>T_TPVVSVTTPSLPSQGLVYSAMPTAY
17:40936457-40936457 G>A	1.0	4310	MELANOMA	-	-	-	-	WNK4	ENST00000591448,p.A344T|NM_032387,p.A344T|ENST00000246914,p.A344T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_032387	nonsynonymous SNV	exon4	c.G1030A	p.A344T	FAKSVIGTPEFMAPEMYEEKYDEAV	FAKSVIGTPEFMTPEMYEEKYDEAV	9.0	6.0	unscreened	-	4310_17:40936457-40936457 G>A_FAKSVIGTPEFMTPEMYEEKYDEAV
16:75203298-75203298 T>A	1.0	4310	MELANOMA	-	-	-	-	ZFP1	uc010cgs.3,p.V42D|NM_153688,p.V97D|ENST00000393430,p.V97D|ENST00000570010,p.V97D|uc010cgt.3,p.V64D|uc002fdq.3,p.V97D|uc002fdo.3,p.V97D|ENST00000332307,p.V64D|uc002fdp.3,p.V42D	protein_coding, processed_transcript	uc010cgt.3	nonsynonymous SNV	exon3	c.T191A	p.V64D	LFGKALNLNTDFVSLRQVPYKYDLY	LFGKALNLNTDFDSLRQVPYKYDLY	6.0	5.0	-	-	4310_16:75203298-75203298 T>A_LFGKALNLNTDFDSLRQVPYKYDLY
9:131670194-131670194 C>T	1.0	4310	MELANOMA	-	-	-	-	LRRC8A	uc004bwl.4,p.R251W|uc010myq.3,p.R251W|NM_019594,p.R251W|ENST00000372600,p.R251W|NM_001127245,p.R251W|NM_001127244,p.R251W|ENST00000259324,p.R251W|ENST00000372599,p.R251W|uc010myp.3,p.R251W	protein_coding, processed_transcript	uc010myq.3	nonsynonymous SNV	exon3	c.C751T	p.R251W	QAKALFEKVKKFRTHVEEGDIVYRL	QAKALFEKVKKFWTHVEEGDIVYRL	7.0	7.0	-	-	4310_9:131670194-131670194 C>T_QAKALFEKVKKFWTHVEEGDIVYRL
6:30457327-30457327 C>T	1.0	4310	MELANOMA	-	-	ID=COSM1634698;OCCURENCE=1(liver)	-	HLA-E	ENST00000376630,p.L7F|uc003nqg.3,p.L7F|NM_005516,p.L7F	retained_intron, protein_coding	uc003nqg.3	nonsynonymous SNV	exon1	c.C19T	p.L7F	MVDGTLLLLLSEALALTQT	MVDGTLFLLLSEALALTQT	10.0	5.0	-	-	4310_6:30457327-30457327 C>T_MVDGTLFLLLSEALALTQT
3:184059665-184059665 C>T	1.0	4310	MELANOMA	-	-	-	-	FAM131A	uc003fog.3,p.P15L|ENST00000310585,p.P15L	protein_coding, processed_transcript	uc003fog.3	nonsynonymous SNV	exon1	c.C44T	p.P15L	LATLSFLLPFAHPFGTVSCEYMLGS	LATLSFLLPFAHLFGTVSCEYMLGS	7.0	7.0	unscreened	-	4310_3:184059665-184059665 C>T_LATLSFLLPFAHLFGTVSCEYMLGS
9:21974760-21974760 C>A	1.0	4310	MELANOMA	-	-	-	1	CDKN2A	NM_001195132,p.G23C|ENST00000498124,p.G23C|uc003zpk.3,p.G23C|ENST00000446177,p.G23C|NM_000077,p.G23C|ENST00000304494,p.G23C|ENST00000380151,p.G23C|uc003zpj.3,p.G23C|NM_058197,p.G23C|uc010miu.3,p.G23C|ENST00000579122,p.G23C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010miu.3	nonsynonymous SNV	exon1	c.G67T	p.G23C	PSADWLATAAARGRVEEVRALLEAG	PSADWLATAAARCRVEEVRALLEAG	10.0	10.0	-	-	4310_9:21974760-21974760 C>A_PSADWLATAAARCRVEEVRALLEAG
1:231954120-231954120 C>T	1.0	4310	MELANOMA	-	-	-	-	DISC1	NM_001164545,p.H579Y|ENST00000539444,p.H579Y|uc010pwk.1,p.H568Y|uc010pws.1,p.H579Y	retained_intron, protein_coding	uc010pws.1	nonsynonymous SNV	exon8	c.C1735T	p.H579Y	SGRLKTSPRRLDH	SGRLKTSPRRLDY	8.0	10.0	-	-	4310_1:231954120-231954120 C>T_SGRLKTSPRRLDY
1:117156503-117156503 G>A	1.0	4310	MELANOMA	-	-	-	-	IGSF3	uc031pnr.1,p.S239F|ENST00000369486,p.S239F|uc001egr.2,p.S239F|NM_001542,p.S239F|ENST00000369483,p.S239F|NM_001007237,p.S239F|ENST00000318837,p.S239F	protein_coding, processed_transcript	uc031pnr.1	nonsynonymous SNV	exon3	c.C716T	p.S239F	TTFRLTIFHLQPSDQGEFYCEAAEW	TTFRLTIFHLQPFDQGEFYCEAAEW	8.0	8.0	-	-	4310_1:117156503-117156503 G>A_TTFRLTIFHLQPFDQGEFYCEAAEW
12:39756955-39756955 G>A	1.0	4310	MELANOMA	-	-	-	-	KIF21A	NM_001173463,p.P322S|uc001rly.3,p.P322S|NM_017641,p.P322S|NM_001173464,p.P322S|ENST00000395670,p.P322S|uc010skl.2,p.P322S|ENST00000361961,p.P322S|ENST00000361418,p.P322S|uc001rlz.3,p.P322S|NM_001173465,p.P322S|ENST00000541463,p.P322S|ENST00000552908,p.P145S|uc001rlx.3,p.P322S|ENST00000544797,p.P322S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010skl.2	nonsynonymous SNV	exon7	c.C964T	p.P322S	ALGDKSKRATHVPYRDSKLTRLLQD	ALGDKSKRATHVSYRDSKLTRLLQD	6.0	1.0	-	-	4310_12:39756955-39756955 G>A_ALGDKSKRATHVSYRDSKLTRLLQD
17:40936456-40936456 G>A	1.0	4310	MELANOMA	-	-	-	-	WNK4	ENST00000246914,p.M343I|NM_032387,p.M343I|ENST00000591448,p.M343I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_032387	nonsynonymous SNV	exon4	c.G1029A	p.M343I	SFAKSVIGTPEFMAPEMYEEKYDEA	SFAKSVIGTPEFIAPEMYEEKYDEA	9.0	6.0	-	-	4310_17:40936456-40936456 G>A_SFAKSVIGTPEFIAPEMYEEKYDEA
4:151199033-151199033 G>A	1.0	4310	MELANOMA	0.0005	-	ID=COSM385946;OCCURENCE=1(lung)	-	LRBA	NM_006726,p.R2825W|uc003ilr.4,p.R245W|uc003ilu.4,p.R2813W|NM_001199282,p.R2813W|uc010ipj.3,p.R2825W|uc003ilt.4,p.R1473W|ENST00000357115,p.R2825W|uc003ils.4,p.R720W|ENST00000510413,p.R2813W|uc010ipi.3,p.R347W|ENST00000535741,p.R2814W	retained_intron, protein_coding, processed_transcript	uc010ipj.3	nonsynonymous SNV	exon57	c.C8473T	p.R2825W	QLFAYPGCDAGIRAMALSYDQRCII	QLFAYPGCDAGIWAMALSYDQRCII	7.0	5.0	-	-	4310_4:151199033-151199033 G>A_QLFAYPGCDAGIWAMALSYDQRCII
19:21720411-21720411 T>A	1.0	4310	MELANOMA	-	-	-	2	ZNF429	uc002nqd.1,p.I519N|ENST00000358491,p.I519N|NM_001001415,p.I519N	protein_coding, processed_transcript	uc002nqd.1	nonsynonymous SNV	exon4	c.T1556A	p.I519N	KPYKCEECGKAFILSSRLTQHKKIH	KPYKCEECGKAFNLSSRLTQHKKIH	10.0	1.0	unscreened	-	4310_19:21720411-21720411 T>A_KPYKCEECGKAFNLSSRLTQHKKIH
17:39976691-39976691 G>A	1.0	4310	MELANOMA	-	-	-	-	FKBP10	uc002hxv.2,p.D412N|uc002hxw.1,p.D176N|ENST00000321562,p.D412N|NM_021939,p.D412N|ENST00000544340,p.D185N	retained_intron, protein_coding, nonsense_mediated_decay	uc002hxw.1	nonsynonymous SNV	exon4	c.G526A	p.D176N	DFVRYHYNCSLLDGTQLFTSHDYGA	DFVRYHYNCSLLNGTQLFTSHDYGA	10.0	8.0	-	-	4310_17:39976691-39976691 G>A_DFVRYHYNCSLLNGTQLFTSHDYGA
4:187539164-187539164 G>A	1.0	4310	MELANOMA	-	-	-	1	FAT1	NM_005245,p.S2859F|uc003izf.3,p.S2859F|ENST00000441802,p.S2859F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003izf.3	nonsynonymous SNV	exon10	c.C8576T	p.S2859F	SLDQSQSVEVIESFAINMETGWITT	SLDQSQSVEVIEFFAINMETGWITT	9.0	5.0	-	-	4310_4:187539164-187539164 G>A_SLDQSQSVEVIEFFAINMETGWITT
3:13538269-13538269 C>T	1.0	4310	MELANOMA	-	-	-	-	HDAC11	ENST00000458642,p.P96S|ENST00000405478,p.P68S|NM_024827,p.P96S|ENST00000416248,p.P68S|ENST00000455904,p.P68S|ENST00000295757,p.P96S|ENST00000437379,p.P68S|uc003bxy.3,p.P96S|ENST00000433119,p.P68S|uc010heb.3,p.P68S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010heb.3	nonsynonymous SNV	exon4	c.C202T	p.P68S	KWSFAVATITEIPPVIFLPNFLVQR	KWSFAVATITEISPVIFLPNFLVQR	7.0	6.0	-	-	4310_3:13538269-13538269 C>T_KWSFAVATITEISPVIFLPNFLVQR
1:33415235-33415235 G>C	1.0	4310	MELANOMA	-	-	-	-	RNF19B	NM_001300826,p.A259G|uc010oho.2,p.A259G|uc001bwm.4,p.A259G|ENST00000373456,p.A259G|NM_001127361,p.A259G|NM_153341,p.A259G|ENST00000356990,p.A259G|ENST00000235150,p.A259G|uc010ohp.2,p.A259G	protein_coding	uc010ohp.2	nonsynonymous SNV	exon2	c.C776G	p.A259G	PNQTCDMARQQRAQTLRVRTKHTSG	PNQTCDMARQQRGQTLRVRTKHTSG	7.0	3.0	-	-	4310_1:33415235-33415235 G>C_PNQTCDMARQQRGQTLRVRTKHTSG
12:56355488-56355488 ->AC	0.0	4310	MELANOMA	-	-	-	-	PMEL	ENST00000546543,p.V35fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000546543	frameshift insertion	exon2	c.104_105insGT	p.V35fs	ATKVPRNQDWLGVSRQLRTKAWNRQ	ATKVPRNQDWLGVSQGNSEPKPGTGSCIQSGQKPRDLTAGEGARCGEDSQCIPRKLTMPASSLMVDLAHLALGLRREALFMSGRPGANTGKF	10.0	2.0	unscreened	-	4310_12:56355488-56355488 ->AC_ATKVPRNQDWLGVSQGNSEPKPGTGSCIQSGQKPRDLTAGEGARCGEDSQCIPRKLTMPASSLMVDLAHLALGLRREALFMSGRPGANTGKF
12:56355488-56355488 ->AC	0.0	4310	MELANOMA	-	-	-	-	PMEL	ENST00000549233,p.V38fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000549233	frameshift insertion	exon4	c.113_114insGT	p.V38fs	TVKVPRNQDWLGVSRQLRTKAWNRQ	TVKVPRNQDWLGVSQGNSEPKPGTGSCIQSGQKPRDLTAGEVVKCPSRSVMMGLH	10.0	2.0	unscreened	-	4310_12:56355488-56355488 ->AC_TVKVPRNQDWLGVSQGNSEPKPGTGSCIQSGQKPRDLTAGEVVKCPSRSVMMGLH
12:56355488-56355488 ->AC	0.0	4310	MELANOMA	-	-	-	-	PMEL	ENST00000536427,p.V35fs|ENST00000548747,p.V35fs|ENST00000360714,p.V35fs|uc001siq.3,p.V35fs|uc001sip.3,p.V35fs|ENST00000548493,p.V35fs|NM_001200054,p.V35fs|ENST00000552882,p.V35fs|uc001sir.3,p.V35fs|ENST00000449260,p.V35fs|ENST00000549418,p.V35fs|ENST00000548803,p.V35fs|NM_006928,p.V35fs|ENST00000547137,p.V35fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sir.3	frameshift insertion	exon2	c.104_105insGT	p.V35fs	ATKVPRNQDWLGVSRQLRTKAWNRQ	ATKVPRNQDWLGVSQGNSEPKPGTGSCIQSGQKPRDLTAGEVVKCPSRSVMMGLH	10.0	2.0	-	-	4310_12:56355488-56355488 ->AC_ATKVPRNQDWLGVSQGNSEPKPGTGSCIQSGQKPRDLTAGEVVKCPSRSVMMGLH
1:201970859-201970859 C>T	1.0	4310	MELANOMA	-	-	-	-	RNPEP	uc001gxd.3,p.P464S|ENST00000295640,p.P464S|ENST00000367286,p.P425S|NM_020216,p.P464S|uc001gxe.3,p.P165S	protein_coding, processed_transcript	uc001gxe.3	nonsynonymous SNV	exon7	c.C493T	p.P165S	ADDFLDFYLEYFPELKKKRVDIIPG	ADDFLDFYLEYFSELKKKRVDIIPG	9.0	2.0	-	-	4310_1:201970859-201970859 C>T_ADDFLDFYLEYFSELKKKRVDIIPG
17:56382451-56382451 C>T	1.0	4310	MELANOMA	-	-	-	-	BZRAP1	uc002ivv.3,p.E69K	retained_intron, protein_coding	uc002ivv.3	nonsynonymous SNV	exon1	c.G205A	p.E69K	EGPGPEAGGLDREPRTPQAESQVSE	EGPGPEAGGLDRKPRTPQAESQVSE	5.0	6.0	unscreened	-	4310_17:56382451-56382451 C>T_EGPGPEAGGLDRKPRTPQAESQVSE
5:7757623-7757623 C>T	1.0	4310	MELANOMA	-	-	-	-	ADCY2	uc003jdz.1,p.A673V|ENST00000537121,p.A493V|NM_020546,p.A673V|uc011cmo.1,p.A493V|ENST00000338316,p.A673V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmo.1	nonsynonymous SNV	exon13	c.C1478T	p.A493V	LLMWLLKSSGIIANRPWPRISLTII	LLMWLLKSSGIIVNRPWPRISLTII	8.0	9.0	-	-	4310_5:7757623-7757623 C>T_LLMWLLKSSGIIVNRPWPRISLTII
3:113002327-113002327 C>T	1.0	4310	MELANOMA	-	-	-	-	BOC	ENST00000273395,p.P835L|NM_001301861,p.P835L|uc003eab.3,p.P535L|NM_033254,p.P834L|uc003dzy.3,p.P834L|uc003dzx.3,p.P834L|uc003eac.3,p.P149L|ENST00000495514,p.P834L|ENST00000355385,p.P834L|uc003dzz.3,p.P835L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eac.3	nonsynonymous SNV	exon4	c.C446T	p.P149L	PPPTLAPPQPPLPETIERPVGTGAM	PPPTLAPPQPPLLETIERPVGTGAM	5.0	5.0	-	-	4310_3:113002327-113002327 C>T_PPPTLAPPQPPLLETIERPVGTGAM
3:148895647-148895647 C>T	0.0	4310	MELANOMA	0.0009	-	-	-	CP	uc003ewz.3,p.G1000S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ewz.3	nonsynonymous SNV	exon17	c.G2998A	p.G1000S	GNEIDLHTVHFHGHSFQYKVRAIHG	GNEIDLHTVHFHSHSFQYKVRAIHG	6.0	6.0	-	-	4310_3:148895647-148895647 C>T_GNEIDLHTVHFHSHSFQYKVRAIHG
2:228395813-228395813 A>C	1.0	4310	MELANOMA	-	-	-	-	AGFG1	uc002vpe.2,p.N234T|NM_001135188,p.N234T|uc002vpd.2,p.N234T|uc002vpc.2,p.N234T|ENST00000409979,p.N234T|ENST00000409315,p.N234T|NM_001135187,p.N234T|ENST00000456594,p.N156T|NM_004504,p.N234T|ENST00000310078,p.N234T|ENST00000409171,p.N234T	protein_coding, processed_transcript	uc002vpe.2	nonsynonymous SNV	exon6	c.A701C	p.N234T	ANFAHFNSHAAQNSANADFANFDAF	ANFAHFNSHAAQTSANADFANFDAF	10.0	10.0	-	-	4310_2:228395813-228395813 A>C_ANFAHFNSHAAQTSANADFANFDAF
10:89118074-89118074 G>A	1.0	4310	MELANOMA	-	-	-	-	NUTM2D	ENST00000381697,p.G18R|uc001kes.3,p.G18R|uc009xte.1,p.G18R|ENST00000412718,p.G18R	protein_coding, processed_transcript	uc009xte.1	nonsynonymous SNV	exon1	c.G52A	p.G18R	VYFQIFLFQLDSGASGEPGHSLGLT	VYFQIFLFQLDSRASGEPGHSLGLT	6.0	3.0	-	-	4310_10:89118074-89118074 G>A_VYFQIFLFQLDSRASGEPGHSLGLT
15:56686970-56686970 C>T	1.0	4310	MELANOMA	-	-	-	-	TEX9	uc002adq.1,p.L181F|uc002adp.3,p.L256F|ENST00000561221,p.L256F|NM_198524,p.L256F|ENST00000537232,p.L181F|ENST00000352903,p.L256F|ENST00000558083,p.L181F|uc010ugl.2,p.L181F|NM_001286449,p.L181F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ugl.2	nonsynonymous SNV	exon9	c.C541T	p.L181F	NMQQSQVEKYKTLFEEANKKYDGLQ	NMQQSQVEKYKTFFEEANKKYDGLQ	6.0	5.0	-	-	4310_15:56686970-56686970 C>T_NMQQSQVEKYKTFFEEANKKYDGLQ
17:80037056-80037056 G>A	1.0	4310	MELANOMA	-	-	-	-	FASN	uc002kdu.3,p.S2500F|ENST00000306749,p.S2500F|NM_004104,p.S2500F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kdu.3	nonsynonymous SNV	exon43	c.C7499T	p.S2500F	SGLESIISIIHSSLAEPRVSVREG	SGLESIISIIHSFLAEPRVSVREG	10.0	8.0	-	-	4310_17:80037056-80037056 G>A_SGLESIISIIHSFLAEPRVSVREG
3:50211769-50211769 G>A	1.0	4310	MELANOMA	-	-	-	-	SEMA3F	ENST00000450338,p.G148R|ENST00000414301,p.G148R|ENST00000420831,p.G112R|ENST00000413852,p.G80R|uc003cyk.3,p.G148R|ENST00000434342,p.G148R	retained_intron, protein_coding	uc003cyk.3	nonsynonymous SNV	exon5	c.G442A	p.G148R	GAYNPMCTYVNRGRRAQDYIFYLEP	GAYNPMCTYVNRRRRAQDYIFYLEP	8.0	5.0	-	-	4310_3:50211769-50211769 G>A_GAYNPMCTYVNRRRRAQDYIFYLEP
X:48763617-48763617 C>T	0.0	4310	MELANOMA	-	-	-	-	SLC35A2	ENST00000376512,p.G160R|uc011mmo.1,p.G173R	protein_coding	uc011mmo.1	nonsynonymous SNV	exon3	c.G517A	p.G173R	SMAPEELTGLGTGVWE	SMAPEELTGLGTRVWE	8.0	1.0	unscreened	-	4310_X:48763617-48763617 C>T_SMAPEELTGLGTRVWE
14:24112420-24112420 G>A	1.0	4310	MELANOMA	-	-	-	-	DHRS2	NM_182908,p.M160I|ENST00000432832,p.M160I|uc001wku.4,p.M160I|ENST00000250383,p.M160I|uc001wkt.4,p.M160I|ENST00000344777,p.M160I|ENST00000553600,p.M60I|NM_005794,p.M160I	retained_intron, protein_coding, processed_transcript	uc001wku.4	nonsynonymous SNV	exon5	c.G480A	p.M160I	SPALLLSQLLPYMENRRGAVILVSS	SPALLLSQLLPYIENRRGAVILVSS	6.0	8.0	-	-	4310_14:24112420-24112420 G>A_SPALLLSQLLPYIENRRGAVILVSS
2:129026328-129026328 G>A	1.0	4310	MELANOMA	-	-	-	-	HS6ST1	uc002tpt.4,p.T215M|NM_004807,p.T215M|ENST00000259241,p.T215M	protein_coding, processed_transcript	uc002tpt.4	nonsynonymous SNV	exon2	c.C644T	p.T215M	TWKTSLHMCDGRTPTPEELPPCYEG	TWKTSLHMCDGRMPTPEELPPCYEG	6.0	2.0	-	-	4310_2:129026328-129026328 G>A_TWKTSLHMCDGRMPTPEELPPCYEG
X:118968987-118968987 G>A	1.0	4310	MELANOMA	-	-	-	-	UPF3B	ENST00000345865,p.R423C|NM_080632,p.R436C|uc004esa.2,p.R423C|NM_023010,p.R423C|uc004erz.2,p.R436C|ENST00000276201,p.R436C	protein_coding, processed_transcript	uc004esa.2	nonsynonymous SNV	exon10	c.C1267T	p.R423C	EVVKRDRIRNKDRPAMQLYQPGARS	EVVKRDRIRNKDCPAMQLYQPGARS	7.0	8.0	-	-	4310_X:118968987-118968987 G>A_EVVKRDRIRNKDCPAMQLYQPGARS
22:43608457-43608457 G>A	1.0	4310	MELANOMA	-	-	-	-	SCUBE1	uc003bdt.2,p.T732I|ENST00000360835,p.T732I|NM_173050,p.T732I	protein_coding, processed_transcript	uc003bdt.2	nonsynonymous SNV	exon17	c.C2195T	p.T732I	CGGGLLTKHEGTTSFQDCEAKVHCS	CGGGLLTKHEGTISFQDCEAKVHCS	6.0	5.0	-	-	4310_22:43608457-43608457 G>A_CGGGLLTKHEGTISFQDCEAKVHCS
3:148895647-148895647 C>T	0.0	4310	MELANOMA	0.0009	-	-	-	CP	ENST00000264613,p.G1000S|uc003ewx.4,p.G781S|NM_000096,p.G1000S|ENST00000494544,p.G783S|uc003ewy.4,p.G1000S|ENST00000479771,p.G135S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ewy.4	nonsynonymous SNV	exon17	c.G2998A	p.G1000S	GNEIDLHTVHFHGHSFQYKHRGVYS	GNEIDLHTVHFHSHSFQYKHRGVYS	6.0	6.0	-	-	4310_3:148895647-148895647 C>T_GNEIDLHTVHFHSHSFQYKHRGVYS
3:148895647-148895647 C>T	0.0	4310	MELANOMA	0.0009	-	-	-	CP	ENST00000481169,p.G929S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000481169	nonsynonymous SNV	exon16	c.G2785A	p.G929S	GNEIDLHTVHFHGHSFQYKHLLRLT	GNEIDLHTVHFHSHSFQYKHLLRLT	6.0	6.0	unscreened	-	4310_3:148895647-148895647 C>T_GNEIDLHTVHFHSHSFQYKHLLRLT
17:45663749-45663749 G>A	0.0	4310	MELANOMA	-	rs1809279	-	-	NPEPPS	uc002ilr.4,p.G322D|ENST00000322157,p.G322D|ENST00000530173,p.G318D|ENST00000544660,p.G242D|uc010wkt.2,p.G318D|uc010wku.2,p.G286D|NM_006310,p.G322D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wku.2	nonsynonymous SNV	exon7	c.G857A	p.G286D	IADFAAGAMENWGLVTYRETALLID	IADFAAGAMENWDLVTYRETALLID	10.0	3.0	-	-	4310_17:45663749-45663749 G>A_IADFAAGAMENWDLVTYRETALLID
7:135080541-135080541 G>A	1.0	4310	MELANOMA	-	-	-	-	CNOT4	NM_001190849,p.P322L|uc003vst.3,p.P325L|uc011kpz.2,p.P322L|NM_001190850,p.P325L|ENST00000423368,p.P325L|uc011kpy.2,p.P325L|ENST00000361528,p.P322L|ENST00000356162,p.P325L|NM_001008225,p.P322L|NM_013316,p.P322L|ENST00000315544,p.P325L|ENST00000541284,p.P325L|uc003vsu.2,p.P322L|uc003vsv.2,p.P325L|uc003vss.3,p.P322L|ENST00000428680,p.P322L|ENST00000414802,p.P325L|ENST00000451834,p.P322L|NM_001190847,p.P325L|NM_001190848,p.P325L	protein_coding, processed_transcript	uc011kpz.2	nonsynonymous SNV	exon9	c.C965T	p.P322L	IPISSSNHSARSPFEGAVTESQSLF	IPISSSNHSARSLFEGAVTESQSLF	7.0	10.0	-	-	4310_7:135080541-135080541 G>A_IPISSSNHSARSLFEGAVTESQSLF
3:52730300-52730300 A>C	1.0	4310	MELANOMA	-	-	-	-	GLT8D1	NM_001278281,p.V161G|ENST00000266014,p.V161G|NM_001010983,p.V161G|uc003dfi.4,p.V161G|NM_001278280,p.V161G|uc003dfk.3,p.V161G|ENST00000478968,p.V161G|ENST00000407584,p.V161G|uc003dfn.3,p.V161G|uc003dfl.3,p.V161G|ENST00000394783,p.V161G|NM_152932,p.V161G|NM_018446,p.V161G|uc003dfm.3,p.V161G|ENST00000479553,p.V161G|ENST00000491606,p.V161G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dfn.3	nonsynonymous SNV	exon7	c.T482G	p.V161G	PLTFARFYLPILVPSAKKAIYMDDD	PLTFARFYLPILGPSAKKAIYMDDD	9.0	8.0	-	-	4310_3:52730300-52730300 A>C_PLTFARFYLPILGPSAKKAIYMDDD
15:41229043-41229043 G>A	0.0	4310	MELANOMA	-	-	-	-	DLL4	NM_019074,p.G620R|ENST00000249749,p.G620R|uc001zng.2,p.G620R	retained_intron, protein_coding	uc001zng.2	nonsynonymous SNV	exon9	c.G1858A	p.G620R	QQNHTLDYNLAPGPLGRGTMPGKFP	QQNHTLDYNLAPRPLGRGTMPGKFP	5.0	7.0	unscreened	-	4310_15:41229043-41229043 G>A_QQNHTLDYNLAPRPLGRGTMPGKFP
3:148895647-148895647 C>T	0.0	4310	MELANOMA	0.0009	-	-	-	CP	uc003eww.4,p.G152S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eww.4	nonsynonymous SNV	exon3	c.G454A	p.G152S	GNEIDLHTVHFHGHSFQYKKCFQEH	GNEIDLHTVHFHSHSFQYKKCFQEH	6.0	6.0	-	-	4310_3:148895647-148895647 C>T_GNEIDLHTVHFHSHSFQYKKCFQEH
19:41198269-41198269 C>T	1.0	4310	MELANOMA	-	-	-	-	ADCK4	uc002oor.2,p.D436N|NM_001142555,p.D395N|ENST00000243583,p.D395N|NM_024876,p.D436N|uc002oop.1,p.D113N|ENST00000450541,p.D395N|uc002ooq.2,p.D395N|ENST00000324464,p.D436N	retained_intron, protein_coding, nonsense_mediated_decay	uc002oor.2	nonsynonymous SNV	exon15	c.G1306A	p.D436N	KFLTGFETKAFSDAHVEAVMILGEP	KFLTGFETKAFSNAHVEAVMILGEP	7.0	7.0	-	-	4310_19:41198269-41198269 C>T_KFLTGFETKAFSNAHVEAVMILGEP
3:430945-430945 C>T	1.0	4310	MELANOMA	-	-	-	-	CHL1	ENST00000256509,p.S753F|ENST00000397491,p.S737F|NM_001253388,p.S753F|NM_006614,p.S753F|uc003bou.3,p.S737F|uc003bow.2,p.S737F|NM_001253387,p.S737F|uc011asi.2,p.S753F|uc003bot.3,p.S753F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011asi.2	nonsynonymous SNV	exon18	c.C2258T	p.S753F	PKEMIIKWEPLKSMEQNGPGLEYRV	PKEMIIKWEPLKFMEQNGPGLEYRV	10.0	7.0	-	-	4310_3:430945-430945 C>T_PKEMIIKWEPLKFMEQNGPGLEYRV
10:61835231-61835231 G>A	0.0	4310	MELANOMA	-	-	-	-	ANK3	NM_020987,p.S1803F|ENST00000280772,p.S1803F|uc001jky.3,p.S1803F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.C5408T	p.S1803F	SLRTPSASALYTSLGSSISATTSSV	SLRTPSASALYTFLGSSISATTSSV	6.0	6.0	-	-	4310_10:61835231-61835231 G>A_SLRTPSASALYTFLGSSISATTSSV
7:140453136-140453136 A>T	1.0	4310	MELANOMA	-	-	ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system)	1	BRAF	ENST00000479537,p.V28E|uc003vwc.4,p.V600E|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	-	-	4310_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ
13:32808837-32808837 C>T	1.0	4310	MELANOMA	-	-	-	-	FRY	uc001utx.3,p.A1885V|uc010tdw.3,p.A611V|NM_023037,p.A1885V|ENST00000380250,p.A1885V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdw.3	nonsynonymous SNV	exon42	c.C1832T	p.A611V	IFRALKQPLSAHALSDLLSRLVEVI	IFRALKQPLSAHVLSDLLSRLVEVI	5.0	5.0	-	-	4310_13:32808837-32808837 C>T_IFRALKQPLSAHVLSDLLSRLVEVI
6:129963080-129963080 G>A	1.0	4310	MELANOMA	-	-	-	-	ARHGAP18	uc021zfe.1,p.S63F|ENST00000368149,p.S66F|NM_033515,p.S66F|uc003qbr.3,p.S66F|uc011ebw.2,p.S66F	protein_coding, processed_transcript	uc021zfe.1	nonsynonymous SNV	exon4	c.C188T	p.S63F	KVMEKPPFDRSISQDSLDELSMEDY	KVMEKPPFDRSIFQDSLDELSMEDY	1.0	4.0	-	-	4310_6:129963080-129963080 G>A_KVMEKPPFDRSIFQDSLDELSMEDY
19:54721287-54721287 A>T	0.0	4310	MELANOMA	-	-	-	-	LILRB3	ENST00000419410,p.S551R|uc002qes.1,p.S551R|ENST00000391750,p.S550R|ENST00000440558,p.S550R|uc002qeq.1,p.S550R|uc002qee.1,p.S551R|ENST00000407860,p.S567R|uc002qel.1,p.S550R|uc002qei.1,p.S550R|ENST00000346401,p.S562R|uc010erh.1,p.S567R|uc002qep.1,p.S551R|uc002qeo.1,p.S551R|uc002qeh.1,p.S550R|NM_006864,p.S550R|NM_001081450,p.S551R|uc002qef.1,p.S550R|ENST00000270464,p.S551R|uc002qek.1,p.S551R|ENST00000245620,p.S551R|ENST00000424807,p.S550R	retained_intron, protein_coding, nonsense_mediated_decay	uc010erh.1	nonsynonymous SNV	exon13	c.T1701A	p.S567R	PQAVTYAPVKHSSPRREMASPPSSL	PQAVTYAPVKHSRPRREMASPPSSL	8.0	1.0	-	-	4310_19:54721287-54721287 A>T_PQAVTYAPVKHSRPRREMASPPSSL
13:109792770-109792770 G>A	1.0	4310	MELANOMA	-	-	-	-	MYO16	uc010agk.2,p.A1404T|ENST00000357550,p.A1382T|NM_015011,p.A1382T|ENST00000356711,p.A1382T|uc001vqt.1,p.A1382T|NM_001198950,p.A1404T	protein_coding, processed_transcript	uc010agk.2	nonsynonymous SNV	exon32	c.G4210A	p.A1404T	RPGDARPAGAPGAAARVLTPGTPQC	RPGDARPAGAPGTAARVLTPGTPQC	3.0	9.0	-	-	4310_13:109792770-109792770 G>A_RPGDARPAGAPGTAARVLTPGTPQC
20:58567522-58567522 C>A	1.0	4310	MELANOMA	-	-	-	-	CDH26	uc002ybe.3,p.S458Y|NM_177980,p.S458Y|ENST00000244047,p.S458Y|uc002ybf.1,p.S38Y|ENST00000348616,p.S458Y	protein_coding, processed_transcript	uc002ybf.1	nonsynonymous SNV	exon2	c.C113A	p.S38Y	GVVITVEPIDRESPHVNNSFYVIII	GVVITVEPIDREYPHVNNSFYVIII	4.0	7.0	-	-	4310_20:58567522-58567522 C>A_GVVITVEPIDREYPHVNNSFYVIII
11:9990014-9990014 G>A	1.0	4310	MELANOMA	-	-	-	-	SBF2	uc001mih.4,p.P21S|NM_030962,p.P492S|uc001mib.2,p.P492S|ENST00000256190,p.P492S|uc001mif.3,p.P248S	retained_intron, protein_coding, processed_transcript	uc001mih.4	nonsynonymous SNV	exon1	c.C61T	p.P21S	PTEGSHLRVHILPFPEINEARVQEL	PTEGSHLRVHILSFPEINEARVQEL	8.0	5.0	-	-	4310_11:9990014-9990014 G>A_PTEGSHLRVHILSFPEINEARVQEL
17:77984032-77984032 G>A	1.0	4310	MELANOMA	-	-	-	-	TBC1D16	ENST00000310924,p.P236S|uc002jxj.4,p.P236S|NM_019020,p.P236S	protein_coding, processed_transcript	uc002jxj.4	nonsynonymous SNV	exon3	c.C706T	p.P236S	SSFDSDSDTFSSPFCLSPISAALAE	SSFDSDSDTFSSSFCLSPISAALAE	9.0	6.0	-	-	4310_17:77984032-77984032 G>A_SSFDSDSDTFSSSFCLSPISAALAE
1:152279147-152279147 G>A	1.0	4310	MELANOMA	-	-	-	-	FLG	uc001ezu.1,p.L2739F|ENST00000368799,p.L2739F|NM_002016,p.L2739F	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.C8215T	p.L2739F	RSGETSGHSGSFLYQVSTHEQSESS	RSGETSGHSGSFFYQVSTHEQSESS	3.0	1.0	-	-	4310_1:152279147-152279147 G>A_RSGETSGHSGSFFYQVSTHEQSESS
2:220497122-220497122 T>A	0.0	4310	MELANOMA	-	-	-	-	SLC4A3	NM_201574,p.S394T|NM_005070,p.S367T|ENST00000358055,p.S367T|uc002vmo.4,p.S394T|ENST00000273063,p.S394T|uc002vmp.4,p.S367T|ENST00000317151,p.S367T|ENST00000373760,p.S367T|ENST00000425141,p.S367T|ENST00000373762,p.S394T|ENST00000413743,p.S169T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002vmp.4	nonsynonymous SNV	exon8	c.T1099A	p.S367T	TERWGKPHVASLSFRSLLELRRTIA	TERWGKPHVASLTFRSLLELRRTIA	4.0	9.0	-	-	4310_2:220497122-220497122 T>A_TERWGKPHVASLTFRSLLELRRTIA
2:27804607-27804607 G>T	1.0	4310	MELANOMA	-	-	-	-	C2orf16	ENST00000408964,p.R1723L|NM_032266,p.R1723L|uc002rkz.4,p.R1723L	protein_coding	uc002rkz.4	nonsynonymous SNV	exon1	c.G5168T	p.R1723L	HSPSKRSHRSPARRSHRSPSERSHH	HSPSKRSHRSPALRSHRSPSERSHH	1.0	2.0	unscreened	-	4310_2:27804607-27804607 G>T_HSPSKRSHRSPALRSHRSPSERSHH
16:30594461-30594461 C>T	1.0	4310	MELANOMA	-	-	-	-	ZNF785	NM_152458,p.R213K|uc002dyv.2,p.R198K|ENST00000395216,p.R213K|ENST00000470110,p.R198K|uc010vez.2,p.R178K|uc002dyw.2,p.R213K	protein_coding, nonsense_mediated_decay	uc010vez.2	nonsynonymous SNV	exon3	c.G533A	p.R178K	SCGQCQARFSQRRYLLQHQFIHTGE	SCGQCQARFSQRKYLLQHQFIHTGE	6.0	2.0	-	-	4310_16:30594461-30594461 C>T_SCGQCQARFSQRKYLLQHQFIHTGE
11:30253573-30253573 A>G	0.0	4310	MELANOMA	-	-	-	-	FSHB	NM_001018080,p.N42D|uc001msl.3,p.N42D|ENST00000533718,p.N42D|ENST00000254122,p.N42D|ENST00000417547,p.N42D|uc001msm.3,p.N42D|uc001msn.3,p.N42D|NM_000510,p.N42D	protein_coding	uc001msn.3	nonsynonymous SNV	exon1	c.A124G	p.N42D	IEKEECRFCISINTTWCAGYCYTRD	IEKEECRFCISIDTTWCAGYCYTRD	1.0	4.0	-	-	4310_11:30253573-30253573 A>G_IEKEECRFCISIDTTWCAGYCYTRD
10:49658841-49658841 C>T	0.0	4310	MELANOMA	-	-	-	-	ARHGAP22	uc001jgr.4,p.G161E|uc001jgu.4,p.G460E|ENST00000374172,p.G335E|NM_001256025,p.G450E|ENST00000249601,p.G444E|uc001jgv.4,p.G142E|NM_001256026,p.G354E|ENST00000417247,p.G354E|ENST00000374170,p.G285E|NM_021226,p.G444E|ENST00000477708,p.G277E|ENST00000417912,p.G460E|uc010qgm.3,p.G450E|uc010qgl.3,p.G401E|ENST00000435790,p.G450E|uc001jgs.4,p.G354E|NM_001256024,p.G460E|uc001jgt.4,p.G444E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qgm.3	nonsynonymous SNV	exon9	c.G1349A	p.G450E	FRQPRSLSGSPKGGGSSLEVPIISS	FRQPRSLSGSPKEGGSSLEVPIISS	4.0	9.0	-	-	4310_10:49658841-49658841 C>T_FRQPRSLSGSPKEGGSSLEVPIISS
17:6555433-6555433 C>T	1.0	4310	MELANOMA	-	-	-	-	C17orf100	NM_001105520,p.S67F|uc010clp.1,p.S67F|ENST00000391428,p.S67F	protein_coding	uc010clp.1	nonsynonymous SNV	exon1	c.C200T	p.S67F	PSGKRLPRILEASSRHVESSSQRTE	PSGKRLPRILEAFSRHVESSSQRTE	1.0	4.0	-	-	4310_17:6555433-6555433 C>T_PSGKRLPRILEAFSRHVESSSQRTE
11:9068907-9068907 T>A	1.0	4310	MELANOMA	-	-	-	-	SCUBE2	ENST00000450649,p.Q511H|ENST00000309263,p.Q637H|NM_001170690,p.Q511H|uc021qdk.1,p.Q85H|uc001mhj.2,p.Q511H|ENST00000457346,p.Q666H	retained_intron, protein_coding, processed_transcript	uc021qdk.1	nonsynonymous SNV	exon3	c.A255T	p.Q85H	ESCGVGQGHAENQCVSCRAGTYYDG	ESCGVGQGHAENHCVSCRAGTYYDG	9.0	8.0	-	-	4310_11:9068907-9068907 T>A_ESCGVGQGHAENHCVSCRAGTYYDG
1:145330834-145330834 G>T	1.0	4310	MELANOMA	-	-	-	-	NBPF20	NM_001278267,p.G2250C	protein_coding, processed_transcript	NM_001278267	nonsynonymous SNV	exon64	c.G6748T	p.G2250C	RSAFYVLEQQRVGLAVDMDEIEKYQ	RSAFYVLEQQRVCLAVDMDEIEKYQ	10.0	1.0	unscreened	-	4310_1:145330834-145330834 G>T_RSAFYVLEQQRVCLAVDMDEIEKYQ
8:101271113-101271113 C>T	1.0	4310	MELANOMA	-	-	-	-	RNF19A	uc003yjk.2,p.E730K|uc003yjj.1,p.E730K|ENST00000341084,p.E730K|NM_183419,p.E730K|ENST00000519449,p.E730K|NM_015435,p.E730K|NM_001280539,p.E730K	retained_intron, protein_coding, processed_transcript	uc003yjk.2	nonsynonymous SNV	exon10	c.G2188A	p.E730K	PSVADSHSSHFSEFSCSDLESMKTS	PSVADSHSSHFSKFSCSDLESMKTS	9.0	4.0	-	-	4310_8:101271113-101271113 C>T_PSVADSHSSHFSKFSCSDLESMKTS
7:104752472-104752472 T>A	1.0	4310	MELANOMA	-	-	-	-	KMT2E	ENST00000334877,p.N1381K|ENST00000334914,p.N478K|uc003vcm.3,p.N1423K|NM_182931,p.N1423K|uc010ljg.3,p.N157K|ENST00000311117,p.N1423K|uc010ljc.3,p.N1423K|ENST00000257745,p.N1423K|NM_018682,p.N1423K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ljg.3	nonsynonymous SNV	exon4	c.T471A	p.N157K	LSKNHPPQTHVRNSSEQLSQKLPSV	LSKNHPPQTHVRKSSEQLSQKLPSV	9.0	10.0	-	-	4310_7:104752472-104752472 T>A_LSKNHPPQTHVRKSSEQLSQKLPSV
1:152284940-152284940 C>T	1.0	4310	MELANOMA	-	-	-	-	FLG	ENST00000368799,p.G808R|NM_002016,p.G808R|uc001ezu.1,p.G808R	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G2422A	p.G808R	QVSTHKQSESSHGWTGPSTGVRQGS	QVSTHKQSESSHRWTGPSTGVRQGS	3.0	5.0	-	-	4310_1:152284940-152284940 C>T_QVSTHKQSESSHRWTGPSTGVRQGS
3:53844099-53844099 C>T	0.0	4310	MELANOMA	-	-	-	1	CACNA1D	ENST00000288139,p.P2009L|NM_001128840,p.P1989L|uc003dgv.5,p.P1989L|uc003dgu.5,p.P2009L|uc003dgy.5,p.P1965L|ENST00000481478,p.P1682L|ENST00000422281,p.P1965L|ENST00000350061,p.P1989L|NM_001128839,p.P1965L|NM_000720,p.P2009L|uc003dgw.4,p.P1656L	retained_intron, protein_coding, processed_transcript	uc003dgy.5	nonsynonymous SNV	exon45	c.C5894T	p.P1965L	STRSWATPPATPPYRDWTPCYTPLI	STRSWATPPATPLYRDWTPCYTPLI	5.0	6.0	-	-	4310_3:53844099-53844099 C>T_STRSWATPPATPLYRDWTPCYTPLI
21:44836882-44836882 G>A	0.0	4310	MELANOMA	-	-	-	-	SIK1	NM_173354,p.P698S|uc002zdf.2,p.P698S|ENST00000270162,p.P698S	retained_intron, protein_coding	uc002zdf.2	nonsynonymous SNV	exon14	c.C2092T	p.P698S	IAPCDGPGAAPLPSTLLTSGLPLLP	IAPCDGPGAAPLSSTLLTSGLPLLP	7.0	8.0	-	-	4310_21:44836882-44836882 G>A_IAPCDGPGAAPLSSTLLTSGLPLLP
1:3740113-3740113 G>A	1.0	4310	MELANOMA	-	-	-	-	CEP104	uc031pky.1,p.S331F|ENST00000461667,p.S112F|uc001aky.2,p.S793F|ENST00000378230,p.S793F|NM_014704,p.S793F	retained_intron, protein_coding, processed_transcript	uc031pky.1	nonsynonymous SNV	exon10	c.C992T	p.S331F	TRCDHCKQVVEISSLTEHLLTECDK	TRCDHCKQVVEIFSLTEHLLTECDK	8.0	2.0	-	-	4310_1:3740113-3740113 G>A_TRCDHCKQVVEIFSLTEHLLTECDK
1:145330834-145330834 G>T	1.0	4310	MELANOMA	-	-	-	-	NBPF20	uc021oun.1,p.G484C|uc021oul.2,p.G1572C|ENST00000342960,p.G1572C	protein_coding, processed_transcript	uc021oun.1	nonsynonymous SNV	exon13	c.G1450T	p.G484C	RSAFYVLEQQHVGLAVDMDEIEKYQ	RSAFYVLEQQHVCLAVDMDEIEKYQ	10.0	1.0	-	-	4310_1:145330834-145330834 G>T_RSAFYVLEQQHVCLAVDMDEIEKYQ
8:29024934-29024934 G>A	1.0	4310	MELANOMA	-	-	-	-	KIF13B	uc010lvf.1,p.R308W|uc003xhh.4,p.R372W|ENST00000521515,p.R372W|ENST00000524189,p.R372W|uc003xhj.2,p.R269W|NM_015254,p.R372W	retained_intron, protein_coding, nonsense_mediated_decay	uc010lvf.1	nonsynonymous SNV	exon12	c.C922T	p.R308W	NEDPNARIIRDLREEVEKLREQLTK	NEDPNARIIRDLWEEVEKLREQLTK	5.0	8.0	-	-	4310_8:29024934-29024934 G>A_NEDPNARIIRDLWEEVEKLREQLTK
18:59888496-59888496 C>T	1.0	4310	MELANOMA	-	-	-	-	KIAA1468	ENST00000398130,p.P245S|uc002lik.1,p.P245S|uc002lil.3,p.P245S|uc010xel.2,p.P245S|NM_020854,p.P245S|ENST00000587725,p.P245S|ENST00000256858,p.P245S	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xel.2	nonsynonymous SNV	exon4	c.C733T	p.P245S	VPLQERKNYKSSPEIQEPIKPLEKR	VPLQERKNYKSSSEIQEPIKPLEKR	7.0	1.0	-	-	4310_18:59888496-59888496 C>T_VPLQERKNYKSSSEIQEPIKPLEKR
4:149356661-149356661 G>A	1.0	4310	MELANOMA	-	-	ID=COSM1539252;OCCURENCE=1(lung)	-	NR3C2	ENST00000342437,p.P451L|ENST00000358102,p.P451L|ENST00000511528,p.P451L|ENST00000355292,p.P451L|ENST00000344721,p.P451L|NM_001166104,p.P451L|ENST00000512865,p.P451L|uc003ilj.4,p.P451L|NM_000901,p.P451L|uc003ilk.4,p.P451L	retained_intron, protein_coding, processed_transcript	uc003ilk.4	nonsynonymous SNV	exon2	c.C1352T	p.P451L	TSFKGNPTVNPFPFMDGSYFSFMDD	TSFKGNPTVNPFLFMDGSYFSFMDD	5.0	5.0	-	-	4310_4:149356661-149356661 G>A_TSFKGNPTVNPFLFMDGSYFSFMDD
8:106431461-106431461 G>A	0.0	4310	MELANOMA	-	-	-	-	ZFPM2	uc003ymd.3,p.E44K|NM_012082,p.E44K|ENST00000407775,p.E44K	protein_coding, processed_transcript	uc003ymd.3	nonsynonymous SNV	exon2	c.G130A	p.E44K	TDIISKGDFPLEESFSTEFGPENLS	TDIISKGDFPLEKSFSTEFGPENLS	6.0	4.0	-	-	4310_8:106431461-106431461 G>A_TDIISKGDFPLEKSFSTEFGPENLS
1:22332036-22332036 T>C	0.0	4310	MELANOMA	-	-	-	-	CELA3A	uc009vqf.3,p.S75P|ENST00000290122,p.S76P|NM_005747,p.S76P|ENST00000374663,p.S76P|uc001bfl.3,p.S76P	protein_coding	uc009vqf.3	nonsynonymous SNV	exon3	c.T223C	p.S75P	APDWVVTAGHCISRDLTYQVVLGEY	APDWVVTAGHCIPRDLTYQVVLGEY	1.0	2.0	-	-	4310_1:22332036-22332036 T>C_APDWVVTAGHCIPRDLTYQVVLGEY
10:54040554-54040554 C>T	1.0	4310	MELANOMA	-	-	-	-	PRKG1	uc009xow.2,p.S173L|ENST00000373985,p.S443L|ENST00000373980,p.S470L|uc001jjm.3,p.S455L|NM_006258,p.S470L|ENST00000401604,p.S455L|ENST00000373975,p.S173L|uc001jjo.3,p.S470L|NM_001098512,p.S455L	protein_coding	uc009xow.2	nonsynonymous SNV	exon10	c.C518T	p.S173L	GGELWTILRDRGSFEDSTTRFYTAC	GGELWTILRDRGLFEDSTTRFYTAC	5.0	9.0	-	-	4310_10:54040554-54040554 C>T_GGELWTILRDRGLFEDSTTRFYTAC
21:41446993-41446993 C>G	0.0	4310	MELANOMA	-	-	-	-	DSCAM	uc031rvr.1,p.R1620P|NM_001271534,p.R1620P|ENST00000400454,p.R1620P|ENST00000404019,p.R1372P|uc002yyq.1,p.R1620P|NM_001389,p.R1620P	protein_coding	uc031rvr.1	nonsynonymous SNV	exon27	c.G4859C	p.R1620P	LLFVLLLVVRRRRREQRLKRLRDAK	LLFVLLLVVRRRPREQRLKRLRDAK	1.0	9.0	-	-	4310_21:41446993-41446993 C>G_LLFVLLLVVRRRPREQRLKRLRDAK
4:164450087-164450087 C>T	1.0	4310	MELANOMA	-	-	-	-	MARCH1	ENST00000274056,p.R228K|NM_017923,p.R211K|uc003iqs.2,p.R228K|NM_001166373,p.R228K|ENST00000514618,p.R484K|ENST00000503008,p.R228K|ENST00000339875,p.R211K|uc003iqr.2,p.R211K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003iqs.2	nonsynonymous SNV	exon8	c.G683A	p.R228K	YVQCKVYVQLWRRLKAYNRVIFVQN	YVQCKVYVQLWRKLKAYNRVIFVQN	6.0	4.0	-	-	4310_4:164450087-164450087 C>T_YVQCKVYVQLWRKLKAYNRVIFVQN
6:70778319-70778319 C>T	1.0	4310	MELANOMA	-	-	ID=COSM1312350;OCCURENCE=1(urinary_tract)	-	COL19A1	ENST00000393344,p.S14F	protein_coding, processed_transcript	ENST00000393344	nonsynonymous SNV	exon2	c.C41T	p.S14F	LNPISNVSFRKGSLGIQGPQGPPGK	LNPISNVSFRKGFLGIQGPQGPPGK	4.0	5.0	-	-	4310_6:70778319-70778319 C>T_LNPISNVSFRKGFLGIQGPQGPPGK
19:20229604-20229604 T>A	1.0	4310	MELANOMA	-	-	-	-	ZNF90	ENST00000418063,p.I414K|NM_007138,p.I414K|uc002nor.2,p.I414K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nor.2	nonsynonymous SNV	exon4	c.T1241A	p.I414K	CGKAFKRSSTLTIHKISHTEEKPYK	CGKAFKRSSTLTKHKISHTEEKPYK	5.0	1.0	-	-	4310_19:20229604-20229604 T>A_CGKAFKRSSTLTKHKISHTEEKPYK
1:43316730-43316730 C>T	1.0	4310	MELANOMA	-	-	-	-	ZNF691	ENST00000372507,p.P34L|uc021omh.1,p.P65L|uc009vwm.3,p.P54L|NM_015911,p.P34L|ENST00000372502,p.P56L|ENST00000372506,p.P34L|ENST00000372503,p.P65L|ENST00000372508,p.P34L|NM_001242739,p.P65L|ENST00000372504,p.P56L|uc001cih.3,p.P61L|ENST00000397034,p.P65L|uc021omi.1,p.P34L|uc001cig.3,p.P34L|ENST00000397044,p.P65L	protein_coding	uc021omi.1	nonsynonymous SNV	exon1	c.C101T	p.P34L	PWRVDDSEGSWIPPGEKEHGQESLS	PWRVDDSEGSWILPGEKEHGQESLS	7.0	3.0	-	-	4310_1:43316730-43316730 C>T_PWRVDDSEGSWILPGEKEHGQESLS
3:48310029-48310029 G>A	1.0	4310	MELANOMA	-	-	-	-	ZNF589	uc010hjt.2,p.R280Q|ENST00000354698,p.R283Q|uc003csl.4,p.R283Q|ENST00000448461,p.R283Q|NM_016089,p.R283Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hjt.2	nonsynonymous SNV	exon6	c.G839A	p.R280Q	TGEKPYVCGECGRGFIVESVLRNHL	TGEKPYVCGECGQGFIVESVLRNHL	6.0	9.0	-	-	4310_3:48310029-48310029 G>A_TGEKPYVCGECGQGFIVESVLRNHL
2:219127689-219127689 G>A	0.0	4310	MELANOMA	-	-	-	-	GPBAR1	uc010zjy.1,p.G81D|ENST00000479077,p.G81D|ENST00000521462,p.G81D|ENST00000519574,p.G81D|NM_001077194,p.G81D|NM_170699,p.G81D|uc021vwu.1,p.G81D|NM_001077191,p.G81D|ENST00000522678,p.G81D|uc010zjx.1,p.G81D|uc010zjw.1,p.G81D	protein_coding	uc021vwu.1	nonsynonymous SNV	exon1	c.G242A	p.G81D	PTLPGLWNQSRRGYWSCLLVYLAPN	PTLPGLWNQSRRDYWSCLLVYLAPN	5.0	1.0	-	-	4310_2:219127689-219127689 G>A_PTLPGLWNQSRRDYWSCLLVYLAPN
1:173616003-173616003 C>T	1.0	4310	MELANOMA	-	-	-	-	ANKRD45	NM_198493,p.E160K|ENST00000333279,p.E160K|uc001gja.1,p.E160K	retained_intron, protein_coding	uc001gja.1	nonsynonymous SNV	exon3	c.G478A	p.E160K	DVAARYSQTECVEFLDWADARLTLK	DVAARYSQTECVKFLDWADARLTLK	4.0	10.0	-	-	4310_1:173616003-173616003 C>T_DVAARYSQTECVKFLDWADARLTLK
15:41229044-41229044 G>A	0.0	4310	MELANOMA	-	-	-	-	DLL4	ENST00000249749,p.G620E|uc001zng.2,p.G620E|NM_019074,p.G620E	retained_intron, protein_coding	uc001zng.2	nonsynonymous SNV	exon9	c.G1859A	p.G620E	QQNHTLDYNLAPGPLGRGTMPGKFP	QQNHTLDYNLAPEPLGRGTMPGKFP	5.0	7.0	unscreened	-	4310_15:41229044-41229044 G>A_QQNHTLDYNLAPEPLGRGTMPGKFP
12:20874797-20874832 CTAATAGCAGGAATCATAAGTCTTCTTGCAGCTGTG>-	0.0	4310	MELANOMA	-	-	-	-	SLCO1C1	ENST00000545604,p.279_290del|ENST00000266509,p.279_290del|uc009zip.3,p.113_124del|ENST00000381552,p.279_290del|ENST00000545102,p.161_172del|uc010sij.2,p.230_241del|NM_017435,p.279_290del|uc010sik.2,p.161_172del|NM_001145945,p.230_241del|uc001rei.3,p.279_290del|NM_001145944,p.161_172del|uc010sii.2,p.279_290del|ENST00000540354,p.230_241del|NM_001145946,p.279_290del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sik.2	nonframeshift deletion	exon6	c.481_516del	p.161_172del	DPQWVGAWWLGYLIAGIISLLAAVP	DPQWVGAWWLGYPFWYLPKSLPRSQ	3.0	1.0	-	-	4310_12:20874797-20874832 CTAATAGCAGGAATCATAAGTCTTCTTGCAGCTGTG>-_DPQWVGAWWLGYPFWYLPKSLPRSQ
4:74285288-74285288 G>A	0.0	4310	MELANOMA	-	-	-	-	ALB	ENST00000415165,p.D381N|NM_000477,p.D573N|uc003hgs.4,p.D573N|uc003hgw.4,p.D381N|uc011cbe.2,p.D252N|ENST00000509063,p.D573N|uc011cbf.2,p.D463N|ENST00000295897,p.D573N|ENST00000503124,p.D423N|ENST00000401494,p.D458N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cbf.2	nonsynonymous SNV	exon12	c.G1387A	p.D463N	PKATKEQLKAVMDDFAAFVEKCCKA	PKATKEQLKAVMNDFAAFVEKCCKA	6.0	6.0	-	-	4310_4:74285288-74285288 G>A_PKATKEQLKAVMNDFAAFVEKCCKA
X:49138501-49138501 G>T	0.0	4310	MELANOMA	-	-	-	-	PPP1R3F	NM_033215,p.R373L|ENST00000466508,p.R27L|ENST00000495799,p.R27L|NM_001184745,p.R27L|uc004dnj.2,p.R27L|ENST00000376188,p.R27L|uc004dni.3,p.R27L|uc011mnd.2,p.R44L|ENST00000438316,p.R44L|ENST00000055335,p.R373L|uc004dnh.2,p.R373L	protein_coding	uc011mnd.2	nonsynonymous SNV	exon4	c.G131T	p.R44L	ESVGPLVAPTPLRPWPQMTLQVSDV	ESVGPLVAPTPLLPWPQMTLQVSDV	4.0	2.0	-	-	4310_X:49138501-49138501 G>T_ESVGPLVAPTPLLPWPQMTLQVSDV
11:124857652-124857652 G>T	1.0	4310	MELANOMA	-	-	-	-	CCDC15	uc001qbm.4,p.L510F|ENST00000529051,p.L510F|ENST00000344762,p.L510F|NM_025004,p.L510F	retained_intron, protein_coding, processed_transcript	uc001qbm.4	nonsynonymous SNV	exon8	c.G1530T	p.L510F	QDQNFLPKDQNFLSRDQHVLPKDQN	QDQNFLPKDQNFFSRDQHVLPKDQN	5.0	1.0	unscreened	-	4310_11:124857652-124857652 G>T_QDQNFLPKDQNFFSRDQHVLPKDQN
16:129532-129532 G>A	1.0	4310	MELANOMA	-	-	-	-	MPG	uc002cfn.4,p.D50N|ENST00000356432,p.D45N|NM_001015054,p.D33N|uc010bqp.3,p.D33N|NM_001015052,p.D45N|ENST00000219431,p.D50N|ENST00000397817,p.D33N|ENST00000436333,p.D33N|uc002cfm.4,p.D33N|NM_002434,p.D50N|uc002cfo.4,p.D45N	protein_coding, processed_transcript	uc010bqp.3	nonsynonymous SNV	exon2	c.G97A	p.D33N	AQAPAEQPHSSSDAAQAPCPRERCL	AQAPAEQPHSSSNAAQAPCPRERCL	10.0	6.0	-	-	4310_16:129532-129532 G>A_AQAPAEQPHSSSNAAQAPCPRERCL
1:1597377-1597377 G>A	1.0	4310	MELANOMA	0.0014	-	-	-	SLC35E2B	uc001ahe.4,p.R137C	retained_intron, protein_coding	uc001ahe.4	nonsynonymous SNV	exon3	c.C409T	p.R137C	NRFRQQDHQLVGRWHSPGDRWGPAL	NRFRQQDHQLVGCWHSPGDRWGPAL	7.0	8.0	-	-	4310_1:1597377-1597377 G>A_NRFRQQDHQLVGCWHSPGDRWGPAL
10:76741635-76741635 T>A	1.0	4310	MELANOMA	-	-	-	1	KAT6B	ENST00000372724,p.F482L|NM_001256469,p.F482L|NM_012330,p.F774L|NM_001256468,p.F591L|ENST00000372711,p.F591L|ENST00000372714,p.F482L|ENST00000372725,p.F482L|ENST00000287239,p.F774L|uc031pvy.1,p.F591L|uc001jwn.2,p.F774L|uc001jwm.2,p.F482L	protein_coding, processed_transcript	uc031pvy.1	nonsynonymous SNV	exon11	c.T1773A	p.F591L	NILLRHSKKCGWFHPPANEIYRRKD	NILLRHSKKCGWLHPPANEIYRRKD	7.0	9.0	-	-	4310_10:76741635-76741635 T>A_NILLRHSKKCGWLHPPANEIYRRKD
5:140235688-140235688 C>T	0.0	4310	MELANOMA	-	-	-	-	PCDHA10	ENST00000506939,p.L19F|ENST00000307360,p.L19F|NM_018901,p.L19F|NM_031859,p.L19F|uc003lhw.2,p.L19F|uc011dad.2,p.L19F|uc003lhx.2,p.L19F|NM_031860,p.L19F	protein_coding	uc011dad.2	nonsynonymous SNV	exon1	c.C55T	p.L19F	CLGVQCLLLSLLLLAAWEVGSGQLH	CLGVQCLLLSLLFLAAWEVGSGQLH	3.0	4.0	-	-	4310_5:140235688-140235688 C>T_CLGVQCLLLSLLFLAAWEVGSGQLH
17:56382451-56382451 C>T	1.0	4310	MELANOMA	-	-	-	-	BZRAP1	NM_001261835,p.E1830K|NM_004758,p.E1839K|ENST00000268893,p.E1779K|uc002ivx.5,p.E1839K|ENST00000343736,p.E1839K|NM_024418,p.E1779K|uc010dcs.4,p.E1779K|uc010wnt.3,p.E1830K	retained_intron, protein_coding	uc010wnt.3	nonsynonymous SNV	exon30	c.G5488A	p.E1830K	EGPGPEAGGLDREPRTPQAESQRTR	EGPGPEAGGLDRKPRTPQAESQRTR	5.0	6.0	-	-	4310_17:56382451-56382451 C>T_EGPGPEAGGLDRKPRTPQAESQRTR
7:82784617-82784617 C>T	1.0	4310	MELANOMA	-	-	-	-	PCLO	NM_014510,p.G447E|uc003uhv.2,p.G447E|uc003uhx.2,p.G447E|ENST00000333891,p.G447E|ENST00000423517,p.G447E|NM_033026,p.G447E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon2	c.G1340A	p.G447E	GPTKTPVQQPGPGKIPAQQAGPGKT	GPTKTPVQQPGPEKIPAQQAGPGKT	6.0	9.0	-	-	4310_7:82784617-82784617 C>T_GPTKTPVQQPGPEKIPAQQAGPGKT
1:206821082-206821082 G>A	1.0	4310	MELANOMA	-	-	-	-	DYRK3	NM_003582,p.G180E|NM_001004023,p.G160E|uc001hei.3,p.G160E|ENST00000441486,p.G160E|uc001hej.3,p.G180E|ENST00000367109,p.G180E|ENST00000367108,p.G160E|ENST00000367106,p.G160E	protein_coding, processed_transcript	uc001hej.3	nonsynonymous SNV	exon3	c.G539A	p.G180E	IYFVGPNAKKRHGVIGGPNNGGYDD	IYFVGPNAKKRHEVIGGPNNGGYDD	7.0	10.0	-	-	4310_1:206821082-206821082 G>A_IYFVGPNAKKRHEVIGGPNNGGYDD
10:101977808-101977808 G>A	1.0	4310	MELANOMA	-	-	-	-	CHUK	NM_001278,p.L293F|ENST00000370397,p.L293F|uc001kqp.3,p.L293F	protein_coding, processed_transcript	uc001kqp.3	nonsynonymous SNV	exon9	c.C877T	p.L293F	NWDPQQRGGPVDLTLKQPRCFVLMD	NWDPQQRGGPVDFTLKQPRCFVLMD	7.0	9.0	-	-	4310_10:101977808-101977808 G>A_NWDPQQRGGPVDFTLKQPRCFVLMD
19:23159159-23159159 A>G	1.0	4310	MELANOMA	-	-	-	-	ZNF728	ENST00000594710,p.L327P|uc002nqz.2,p.L327P|uc002nqy.2,p.L144P|NM_001267716,p.L327P	protein_coding	uc002nqz.2	nonsynonymous SNV	exon4	c.T980C	p.L327P	EECGKAFNRSSNLMEHKRIHTGEKP	EECGKAFNRSSNPMEHKRIHTGEKP	6.0	3.0	unscreened	-	4310_19:23159159-23159159 A>G_EECGKAFNRSSNPMEHKRIHTGEKP
2:27801412-27801412 A>G	0.0	4310	MELANOMA	-	-	-	-	C2orf16	uc002rkz.4,p.K658R|ENST00000408964,p.K658R|NM_032266,p.K658R	protein_coding	uc002rkz.4	nonsynonymous SNV	exon1	c.A1973G	p.K658R	PAELTPSPCTQVKSAELTSPQTSPF	PAELTPSPCTQVRSAELTSPQTSPF	1.0	2.0	-	-	4310_2:27801412-27801412 A>G_PAELTPSPCTQVRSAELTSPQTSPF
1:156233299-156233299 G>T	1.0	4310	MELANOMA	-	-	-	-	SMG5	ENST00000361813,p.R640S|uc001foc.4,p.R640S|NM_015327,p.R640S	protein_coding, processed_transcript	uc001foc.4	nonsynonymous SNV	exon13	c.C1918A	p.R640S	GSESSGRSCRNERSIQEKLQVLMAE	GSESSGRSCRNESSIQEKLQVLMAE	9.0	6.0	-	-	4310_1:156233299-156233299 G>T_GSESSGRSCRNESSIQEKLQVLMAE
22:21481376-21481376 C>T	0.0	4310	MELANOMA	-	rs3962667	-	-	BCRP2,FAM230B	ENST00000419447,p.A184T|uc010gsw.2,p.A184T|uc021wmb.1,p.A184T|ENST00000329949,p.A184T	protein_coding	uc021wmb.1	nonsynonymous SNV	exon1	c.G550A	p.A184T	EKAADIAPGQTLALRNDSSTSEASR	EKAADIAPGQTLTLRNDSSTSEASR	2.0	1.0	unscreened	-	4310_22:21481376-21481376 C>T_EKAADIAPGQTLTLRNDSSTSEASR
17:56382451-56382451 C>T	1.0	4310	MELANOMA	-	-	-	-	BZRAP1	uc002ivw.4,p.E71K|ENST00000355701,p.E1839K|ENST00000581675,p.E103K	retained_intron, protein_coding	uc002ivw.4	nonsynonymous SNV	exon5	c.G211A	p.E71K	EGPGPEAGGLDREPRTPQAESQDWG	EGPGPEAGGLDRKPRTPQAESQDWG	5.0	6.0	-	-	4310_17:56382451-56382451 C>T_EGPGPEAGGLDRKPRTPQAESQDWG
1:231954120-231954120 C>T	1.0	4310	MELANOMA	-	-	-	-	DISC1	NM_001164544,p.S613L|uc010pwi.1,p.S568L|uc010pww.2,p.S613L|uc010pxe.2,p.S613L|NM_001164540,p.S491L|uc010pxb.1,p.S613L|ENST00000366633,p.S613L|uc009xfr.3,p.S568L|ENST00000535983,p.S613L|uc010pxh.2,p.S645L|uc010pwj.1,p.S602L|NM_001164542,p.S613L|uc010pwh.1,p.S568L|uc010pwr.1,p.S613L|ENST00000366636,p.S613L|uc001huz.3,p.S613L|uc010pxj.1,p.S258L|uc010pwg.1,p.S602L|NM_001012957,p.S613L|NM_018662,p.S613L|uc010pxf.2,p.S613L|ENST00000439617,p.S613L|NM_001012959,p.S613L|NM_001164538,p.S613L|NM_001164539,p.S613L|uc001huy.3,p.S613L|uc010pxm.2,p.S491L|NM_001164541,p.S613L|uc010pxn.1,p.S258L|uc001hva.3,p.S613L|NM_001164537,p.S645L|ENST00000602281,p.S613L|uc010pxd.2,p.S258L	retained_intron, protein_coding	uc010pxn.1	nonsynonymous SNV	exon8	c.C773T	p.S258L	FWTAKDLTEEIRSLTSEREGLEGLL	FWTAKDLTEEIRLLTSEREGLEGLL	8.0	10.0	-	-	4310_1:231954120-231954120 C>T_FWTAKDLTEEIRLLTSEREGLEGLL
8:67786451-67786451 G>A	1.0	4310	MELANOMA	-	-	-	-	MCMDC2	ENST00000428734,p.D26N	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000428734	nonsynonymous SNV	exon2	c.G76A	p.D26N	LDRSGGLQKFIDDCKYYNGTFSKGL	LDRSGGLQKFIDNCKYYNGTFSKGL	4.0	10.0	unscreened	-	4310_8:67786451-67786451 G>A_LDRSGGLQKFIDNCKYYNGTFSKGL
8:67786451-67786451 G>A	1.0	4310	MELANOMA	-	-	-	-	MCMDC2	ENST00000415737,p.D26N	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000415737	nonsynonymous SNV	exon1	c.G76A	p.D26N	LDRSGGLQKFIDDCKYYNGTFSKDA	LDRSGGLQKFIDNCKYYNGTFSKDA	4.0	10.0	unscreened	-	4310_8:67786451-67786451 G>A_LDRSGGLQKFIDNCKYYNGTFSKDA
8:67786451-67786451 G>A	1.0	4310	MELANOMA	-	-	-	-	MCMDC2	NM_001136160,p.D26N|ENST00000492775,p.D26N|ENST00000396592,p.D26N|ENST00000422365,p.D26N|ENST00000313616,p.D26N|uc003xwy.4,p.D26N|uc011lev.2,p.D26N|uc003xwz.4,p.D26N|uc003xwv.3,p.D26N|NM_173518,p.D26N|NM_001136161,p.D26N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lev.2	nonsynonymous SNV	exon2	c.G76A	p.D26N	LDRSGGLQKFIDDCKYYNDSKQSYA	LDRSGGLQKFIDNCKYYNDSKQSYA	4.0	10.0	-	-	4310_8:67786451-67786451 G>A_LDRSGGLQKFIDNCKYYNDSKQSYA
13:38357422-38357422 G>A	0.0	4310	MELANOMA	-	-	-	-	TRPC4	ENST00000379673,p.R17C|uc001uwt.3,p.R17C|NM_003306,p.R17C|NM_001135958,p.R17C|ENST00000338947,p.R17C|NM_016179,p.R17C|NM_001135957,p.R17C|uc010tey.2,p.R17C|ENST00000355779,p.R17C|uc010abx.3,p.R17C|ENST00000379705,p.R17C|ENST00000426868,p.R17C|ENST00000447043,p.R17C|uc010abw.3,p.R17C|ENST00000379681,p.R17C|uc010aby.3,p.R17C|NM_001135955,p.R17C|uc001uws.3,p.R17C|NM_001135956,p.R17C|ENST00000379679,p.R17C|ENST00000488717,p.R17C|ENST00000358477,p.R17C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tey.2	nonsynonymous SNV	exon2	c.C49T	p.R17C	YYKRNVNAPYRDRIPLRIVRAESEL	YYKRNVNAPYRDCIPLRIVRAESEL	2.0	9.0	-	-	4310_13:38357422-38357422 G>A_YYKRNVNAPYRDCIPLRIVRAESEL
X:44703616-44703616 C>T	0.0	4310	MELANOMA	-	-	-	-	DUSP21	uc004dgd.3,p.R80C|NM_022076,p.R80C|ENST00000339042,p.R80C	protein_coding	uc004dgd.3	nonsynonymous SNV	exon1	c.C238T	p.R80C	YIKVPVTDARDSRLYDFFDPIADLI	YIKVPVTDARDSCLYDFFDPIADLI	1.0	3.0	-	-	4310_X:44703616-44703616 C>T_YIKVPVTDARDSCLYDFFDPIADLI
2:168107839-168107839 G>A	0.0	4310	MELANOMA	-	-	-	-	XIRP2	ENST00000409195,p.E3313K|ENST00000295237,p.E3313K|NM_001199144,p.E3091K|uc002udy.3,p.E3138K|ENST00000409273,p.E3091K|uc002udx.3,p.E3313K|NM_152381,p.E3313K|uc010fpq.3,p.E3091K	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G9271A	p.E3091K	VPPRLSEHTQRYEAANRTVQMAENF	VPPRLSEHTQRYKAANRTVQMAENF	1.0	10.0	-	-	4310_2:168107839-168107839 G>A_VPPRLSEHTQRYKAANRTVQMAENF
17:45663749-45663749 G>A	0.0	4310	MELANOMA	-	rs1809279	-	-	NPEPPS	ENST00000527360,p.G5D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000527360	nonsynonymous SNV	exon1	c.G14A	p.G5D	MENWGLVTYSSFIAIYP	MENWDLVTYSSFIAIYP	10.0	3.0	unscreened	-	4310_17:45663749-45663749 G>A_MENWDLVTYSSFIAIYP
1:147380920-147380920 C>T	0.0	4310	MELANOMA	-	-	-	-	GJA8	ENST00000369235,p.P280S|ENST00000240986,p.P280S|uc001epu.2,p.P280S|uc021ovm.1,p.P280S|NM_005267,p.P280S	protein_coding	uc021ovm.1	nonsynonymous SNV	exon1	c.C838T	p.P280S	LLEEEKIVSHYFPLTEVGMVETSPL	LLEEEKIVSHYFSLTEVGMVETSPL	1.0	10.0	-	-	4310_1:147380920-147380920 C>T_LLEEEKIVSHYFSLTEVGMVETSPL
1:201755640-201755640 C>T	1.0	4310	MELANOMA	-	-	-	-	NAV1	uc001gwv.1,p.S485L|uc001gww.2,p.S586L|ENST00000367300,p.S977L|ENST00000367297,p.S977L|uc001gwx.3,p.S586L|NM_001167738,p.S586L|ENST00000367302,p.S990L|NM_020443,p.S977L|ENST00000367296,p.S977L|ENST00000295624,p.S977L|uc001gwu.3,p.S977L|ENST00000367295,p.S586L|uc001gwy.1,p.S358L|uc021phi.1,p.S977L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021phi.1	nonsynonymous SNV	exon9	c.C2930T	p.S977L	HTIGGLPESDDQSELPSPPALPMSL	HTIGGLPESDDQLELPSPPALPMSL	8.0	2.0	-	-	4310_1:201755640-201755640 C>T_HTIGGLPESDDQLELPSPPALPMSL
6:66204895-66204895 T>C	0.0	4310	MELANOMA	-	-	-	-	EYS	ENST00000503581,p.N137D|ENST00000342421,p.N137D|NM_001292009,p.N137D|ENST00000370616,p.N137D|uc003per.1,p.N137D|NM_001142801,p.N137D|NM_001142800,p.N137D|NM_198283,p.N137D|uc003peq.3,p.N137D|ENST00000370621,p.N137D|ENST00000471279,p.N34D|uc021zbn.1,p.N137D|ENST00000370618,p.N137D|uc011dxu.1,p.N137D|ENST00000393380,p.N137D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zbn.1	nonsynonymous SNV	exon4	c.A409G	p.N137D	LFGCRLKGMHTVNSKWLSVGTHYFI	LFGCRLKGMHTVDSKWLSVGTHYFI	1.0	1.0	-	-	4310_6:66204895-66204895 T>C_LFGCRLKGMHTVDSKWLSVGTHYFI
8:11189184-11189184 C>T	0.0	4310	MELANOMA	-	-	-	-	SLC35G5	uc003wtp.1,p.T190I|NM_054028,p.T190I|ENST00000382435,p.T190I	protein_coding	uc003wtp.1	nonsynonymous SNV	exon1	c.C569T	p.T190I	WTLQEGTTGVYTTLGYVQAFLGGLA	WTLQEGTTGVYTILGYVQAFLGGLA	2.0	1.0	unscreened	-	4310_8:11189184-11189184 C>T_WTLQEGTTGVYTILGYVQAFLGGLA
19:4861351-4861351 G>A	1.0	4310	MELANOMA	-	-	-	-	PLIN3	ENST00000585479,p.P19L|ENST00000589494,p.P40L|uc002mbk.2,p.P19L|uc002mbj.2,p.P19L|NM_001164189,p.P19L|NM_005817,p.P19L|ENST00000592528,p.P19L|ENST00000587462,p.P19L|ENST00000221957,p.P19L|NM_001164194,p.P19L|uc002mbl.3,p.P19L	protein_coding	uc002mbl.3	nonsynonymous SNV	exon2	c.C56T	p.P19L	EADGSTQVTVEEPVQQPSVVDRVAS	EADGSTQVTVEELVQQPSVVDRVAS	9.0	3.0	-	-	4310_19:4861351-4861351 G>A_EADGSTQVTVEELVQQPSVVDRVAS
1:75684224-75684224 C>T	0.0	4310	MELANOMA	-	-	-	-	SLC44A5	uc001dgr.2,p.D452N|ENST00000370855,p.D494N|uc001dgs.2,p.D452N|NM_001130058,p.D494N|uc010oqz.1,p.D533N|ENST00000370859,p.D494N|uc001dgu.3,p.D494N|uc010orb.2,p.D364N|ENST00000535611,p.D364N|uc001dgt.2,p.D494N|NM_152697,p.D494N|uc010ora.2,p.D488N	protein_coding, processed_transcript	uc010orb.2	nonsynonymous SNV	exon15	c.G1090A	p.D364N	AFATYYWAMKKPDDIPRYPLFTAFG	AFATYYWAMKKPNDIPRYPLFTAFG	4.0	8.0	-	-	4310_1:75684224-75684224 C>T_AFATYYWAMKKPNDIPRYPLFTAFG
5:1278899-1278899 C>T	0.0	4310	MELANOMA	-	-	-	1	TERT	uc021xwc.1,p.G167S|uc003jcb.1,p.G715S|NM_001193376,p.G715S|ENST00000296820,p.G715S|ENST00000334602,p.G715S|ENST00000508104,p.G715S|NM_198253,p.G715S|ENST00000310581,p.G715S|uc003jcc.1,p.G715S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xwc.1	nonsynonymous SNV	exon5	c.G499A	p.G167S	PPELYFVKVDVTGAYDTIPQDRLTE	PPELYFVKVDVTSAYDTIPQDRLTE	5.0	2.0	-	-	4310_5:1278899-1278899 C>T_PPELYFVKVDVTSAYDTIPQDRLTE
X:48681669-48681669 G>A	0.0	4310	MELANOMA	-	-	-	-	HDAC6	NM_006044,p.E954K|ENST00000444343,p.E968K|uc011mmk.1,p.E935K|ENST00000376619,p.E954K|uc004dks.1,p.E954K|uc011mmi.2,p.E968K|ENST00000334136,p.E954K|uc004dkx.1,p.E317K|uc004dkv.1,p.E602K|uc004dkt.1,p.E954K|uc004dkw.1,p.E602K|uc010nig.1,p.E802K	retained_intron, protein_coding, processed_transcript	uc011mmk.1	nonsynonymous SNV	exon23	c.G2803A	p.E935K	AVGGATPDQTTSEETVGGAILDQTT	AVGGATPDQTTSKETVGGAILDQTT	9.0	1.0	-	-	4310_X:48681669-48681669 G>A_AVGGATPDQTTSKETVGGAILDQTT
1:158517153-158517153 G>A	0.0	4310	MELANOMA	-	-	-	-	OR6Y1	uc010pil.2,p.S248F|NM_001005189,p.S248F|ENST00000302617,p.S248F	protein_coding	uc010pil.2	nonsynonymous SNV	exon1	c.C743T	p.S248F	AQGRQKAFSTCASHLTVVILFYSMT	AQGRQKAFSTCAFHLTVVILFYSMT	1.0	6.0	-	-	4310_1:158517153-158517153 G>A_AQGRQKAFSTCAFHLTVVILFYSMT
7:100253196-100253196 G>A	0.0	4310	MELANOMA	-	-	-	-	ACTL6B	NM_016188,p.T39I|uc003uvy.3,p.T39I|ENST00000160382,p.T39I	retained_intron, protein_coding	uc003uvy.3	nonsynonymous SNV	exon3	c.C116T	p.T39I	YAGEDCPKADFPTTVGLLAAEEGGG	YAGEDCPKADFPITVGLLAAEEGGG	1.0	4.0	-	-	4310_7:100253196-100253196 G>A_YAGEDCPKADFPITVGLLAAEEGGG
3:108813861-108813861 C>T	0.0	4310	MELANOMA	-	-	-	-	MORC1	uc011bhn.2,p.D160N|uc003dxl.3,p.D160N|ENST00000483760,p.D160N|ENST00000232603,p.D160N|NM_014429,p.D160N	protein_coding	uc011bhn.2	nonsynonymous SNV	exon7	c.G478A	p.D160N	SWLIRTRESVTDDPQKFAMELSIIY	SWLIRTRESVTDNPQKFAMELSIIY	1.0	3.0	-	-	4310_3:108813861-108813861 C>T_SWLIRTRESVTDNPQKFAMELSIIY
12:18836244-18836244 G>A	0.0	4310	MELANOMA	-	-	-	-	PLCZ1	ENST00000435379,p.P391S|uc021qvx.2,p.P586S|ENST00000538330,p.P368S|ENST00000447925,p.P584S|uc001rdu.2,p.P368S|uc001rdv.5,p.P482S|ENST00000539875,p.P393S|uc001rdw.5,p.P327S|NM_033123,p.P586S|ENST00000266505,p.P586S|ENST00000534932,p.P67S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qvx.2	nonsynonymous SNV	exon15	c.C1756T	p.P586S	PLLCMNKGYRRIPLFSRMGESLEPA	PLLCMNKGYRRISLFSRMGESLEPA	1.0	5.0	-	-	4310_12:18836244-18836244 G>A_PLLCMNKGYRRISLFSRMGESLEPA
14:23873522-23873522 C>T	0.0	4310	MELANOMA	-	-	-	-	MYH6	ENST00000356287,p.D240N|ENST00000405093,p.D240N|uc001wjv.3,p.D240N|uc010akp.2,p.D240N|NM_002471,p.D240N	retained_intron, protein_coding	uc010akp.2	nonsynonymous SNV	exon8	c.G718A	p.D240N	LEAFGNAKTVRNDNSSRFGKFIRIH	LEAFGNAKTVRNNNSSRFGKFIRIH	2.0	2.0	-	-	4310_14:23873522-23873522 C>T_LEAFGNAKTVRNNNSSRFGKFIRIH
3:26751419-26751419 G>A	0.0	4310	MELANOMA	-	-	-	-	LRRC3B	uc003cdq.3,p.D86N|ENST00000396641,p.D86N|ENST00000417744,p.D86N|uc031rys.1,p.D86N|uc021wuj.1,p.D86N|uc003cdp.3,p.D86N|ENST00000432040,p.D86N|NM_052953,p.D86N|ENST00000456208,p.D86N	protein_coding, processed_transcript	uc031rys.1	nonsynonymous SNV	exon3	c.G256A	p.D86N	NQITSIPNEIFKDLHQLRVLNLSKN	NQITSIPNEIFKNLHQLRVLNLSKN	1.0	4.0	-	-	4310_3:26751419-26751419 G>A_NQITSIPNEIFKNLHQLRVLNLSKN
13:41705636-41705636 G>C	1.0	4310	MELANOMA	-	-	-	-	KBTBD6	NM_152903,p.L338V|uc001uxu.1,p.L338V|ENST00000499385,p.L272V|ENST00000379485,p.L338V	protein_coding	uc001uxu.1	nonsynonymous SNV	exon1	c.C1012G	p.L338V	SLVSAAENPPQRLGMCAKEMVIFFG	SLVSAAENPPQRVGMCAKEMVIFFG	7.0	4.0	-	-	4310_13:41705636-41705636 G>C_SLVSAAENPPQRVGMCAKEMVIFFG
11:56380294-56380294 G>-	0.0	4310	MELANOMA	-	-	-	-	OR5M1	uc001nja.1,p.R229fs|NM_001004740,p.R229fs|ENST00000526538,p.R229fs	protein_coding	uc001nja.1	frameshift deletion	exon1	c.685delC	p.R229fs	SYLFIFAAIFRIRSAEGRHKAFSTC	SYLFIFAAIFRIVLLKAGTKPFLRVLPT	1.0	10.0	-	-	4310_11:56380294-56380294 G>-_SYLFIFAAIFRIVLLKAGTKPFLRVLPT
13:97928656-97928656 C>T	1.0	4310	MELANOMA	-	-	-	-	MBNL2	uc001vna.4,p.S56F|ENST00000469707,p.S56F|uc031qmz.1,p.S56F|uc010tij.2,p.S56F|ENST00000397601,p.S56F|uc010aft.4,p.S56F|ENST00000345429,p.S56F|uc001vmz.4,p.S56F|ENST00000445661,p.S56F|NM_144778,p.S56F|ENST00000376673,p.S56F|NM_207304,p.S56F|ENST00000343600,p.S56F	protein_coding, nonsense_mediated_decay	uc031qmz.1	nonsynonymous SNV	exon3	c.C167T	p.S56F	QVENGRVIACFDSLKGRCSRENCKY	QVENGRVIACFDFLKGRCSRENCKY	10.0	7.0	-	-	4310_13:97928656-97928656 C>T_QVENGRVIACFDFLKGRCSRENCKY
6:7231168-7231168 G>A	1.0	4310	MELANOMA	-	-	-	-	RREB1	ENST00000379933,p.G946R|ENST00000349384,p.G946R|uc003mxc.3,p.G946R|uc021ykz.1,p.G946R|NM_001003698,p.G946R|uc010jnx.3,p.G946R|ENST00000334984,p.G946R|uc021yky.1,p.G946R|NM_001003700,p.G946R|NM_001003699,p.G946R|uc003mxb.3,p.G946R|ENST00000379938,p.G946R|NM_001168344,p.G946R	retained_intron, protein_coding, nonsense_mediated_decay	uc021ykz.1	nonsynonymous SNV	exon7	c.G2836A	p.G946R	PIDLSIPKNFRKGDKDLATPSEAKK	PIDLSIPKNFRKRDKDLATPSEAKK	8.0	3.0	-	-	4310_6:7231168-7231168 G>A_PIDLSIPKNFRKRDKDLATPSEAKK
X:77913002-77913002 C>T	0.0	4310	MELANOMA	-	-	-	-	ZCCHC5	uc004edc.1,p.E306K|NM_152694,p.E306K|ENST00000321110,p.E306K|uc022bzi.1,p.E306K	protein_coding	uc022bzi.1	nonsynonymous SNV	exon1	c.G916A	p.E306K	LLDIQSPLLEQCESFIPVLQDTFDN	LLDIQSPLLEQCKSFIPVLQDTFDN	1.0	2.0	-	-	4310_X:77913002-77913002 C>T_LLDIQSPLLEQCKSFIPVLQDTFDN
3:111632325-111632325 C>T	1.0	4310	MELANOMA	-	-	-	-	PHLDB2	NM_145753,p.L499F|uc003dyh.3,p.L499F|ENST00000495180,p.L85F|ENST00000393923,p.L526F|uc003dyi.3,p.L85F|NM_001134438,p.L499F|uc003dyf.4,p.L499F|ENST00000431670,p.L499F|ENST00000393925,p.L499F|ENST00000498699,p.L499F|NM_001134437,p.L526F|ENST00000481953,p.L499F|ENST00000477695,p.L499F|uc010hqa.3,p.L499F|uc003dyd.3,p.L499F|NM_001134439,p.L499F|uc003dyc.3,p.L526F|ENST00000412622,p.L499F|uc003dyg.3,p.L499F	retained_intron, protein_coding, processed_transcript	uc010hqa.3	nonsynonymous SNV	exon3	c.C1495T	p.L499F	QLSDEESVFEEALMSPDTRYRCHRK	QLSDEESVFEEAFMSPDTRYRCHRK	5.0	6.0	-	-	4310_3:111632325-111632325 C>T_QLSDEESVFEEAFMSPDTRYRCHRK
12:14589084-14589084 A>G	1.0	4310	MELANOMA	-	-	-	-	ATF7IP	uc001rby.4,p.N564D|uc001rca.3,p.N564D|uc001rbu.3,p.N564D|uc001rbv.1,p.N563D|uc001rbw.3,p.N564D|NM_001286515,p.N563D|NM_001286514,p.N563D|ENST00000536444,p.N563D|NM_181352,p.N572D|ENST00000544627,p.N572D|uc001rbx.3,p.N563D|uc010shs.1,p.N563D|ENST00000543189,p.N563D|ENST00000261168,p.N564D|NM_018179,p.N564D|ENST00000540793,p.N564D|uc010sht.1,p.N564D	retained_intron, protein_coding, processed_transcript	uc010sht.1	nonsynonymous SNV	exon4	c.A1690G	p.N564D	SRRKRSKSEDMDNVQSKRRRYMEEE	SRRKRSKSEDMDDVQSKRRRYMEEE	9.0	4.0	-	-	4310_12:14589084-14589084 A>G_SRRKRSKSEDMDDVQSKRRRYMEEE
20:62076687-62076687 C>T	0.0	4310	MELANOMA	-	-	-	-	KCNQ2	NM_172108,p.E140K|ENST00000370222,p.E140K|NM_172106,p.E140K|uc002yfa.1,p.E140K|ENST00000354587,p.E140K|ENST00000370226,p.E140K|ENST00000359125,p.E140K|uc011aax.1,p.E140K|ENST00000370221,p.E140K|NM_172107,p.E140K|ENST00000360480,p.E140K|NM_172109,p.E140K|ENST00000359689,p.E140K|ENST00000357249,p.E140K|uc002yez.1,p.E140K|ENST00000370224,p.E140K|uc002yey.1,p.E140K|ENST00000344425,p.E140K|NM_004518,p.E140K|uc002yfb.1,p.E140K|ENST00000344462,p.E140K|ENST00000430658,p.E140K|uc002yfc.1,p.E140K	protein_coding, processed_transcript	uc011aax.1	nonsynonymous SNV	exon3	c.G418A	p.E140K	ILEIVTIVVFGVEYFVRIWAAGCCC	ILEIVTIVVFGVKYFVRIWAAGCCC	1.0	5.0	-	-	4310_20:62076687-62076687 C>T_ILEIVTIVVFGVKYFVRIWAAGCCC
X:76763945-76763945 C>T	0.0	4310	MELANOMA	-	-	-	1	ATRX	uc004ecq.4,p.D2417N|uc004eco.4,p.D2240N|NM_138270,p.D2417N|NM_000489,p.D2455N|ENST00000395603,p.D2417N|ENST00000373344,p.D2455N|uc004ecp.4,p.D2455N	protein_coding, processed_transcript	uc004ecq.4	nonsynonymous SNV	exon34	c.G7249A	p.D2417N	NLIMNPSNYQQIDMRGMYQPVAGGM	NLIMNPSNYQQINMRGMYQPVAGGM	9.0	3.0	-	-	4310_X:76763945-76763945 C>T_NLIMNPSNYQQINMRGMYQPVAGGM
11:55761230-55761230 C>T	0.0	4310	MELANOMA	-	-	-	-	OR5F1	uc010riv.2,p.S291N|ENST00000278409,p.S291N|NM_003697,p.S291N	protein_coding	uc010riv.2	nonsynonymous SNV	exon1	c.G872A	p.S291N	TVVIPMLNPLIYSLRSKEVKKALAN	TVVIPMLNPLIYNLRSKEVKKALAN	1.0	10.0	-	-	4310_11:55761230-55761230 C>T_TVVIPMLNPLIYNLRSKEVKKALAN
6:138584112-138584112 G>A	1.0	4310	MELANOMA	-	-	ID=COSM21854;OCCURENCE=2(skin)	-	KIAA1244	ENST00000251691,p.E498K|uc003qhu.3,p.E498K|NM_020340,p.E498K	protein_coding	uc003qhu.3	nonsynonymous SNV	exon12	c.G1492A	p.E498K	LSSEHTPWESGNERSLDISISVTTD	LSSEHTPWESGNKRSLDISISVTTD	4.0	6.0	-	-	4310_6:138584112-138584112 G>A_LSSEHTPWESGNKRSLDISISVTTD
17:78223058-78223058 G>T	1.0	4310	MELANOMA	-	-	-	-	SLC26A11	ENST00000546047,p.G543V|NM_001166349,p.G543V|uc002jyb.2,p.G543V|ENST00000411502,p.G543V|NM_001166348,p.G543V|NM_001166347,p.G543V|uc010dhv.2,p.G543V|ENST00000361193,p.G543V|uc002jyd.2,p.G543V|ENST00000572725,p.G543V|uc002jyc.2,p.G543V|NM_173626,p.G543V	retained_intron, protein_coding, processed_transcript	uc010dhv.2	nonsynonymous SNV	exon15	c.G1628T	p.G543V	GLGELLQDFQKQGVALAFVGLQVPV	GLGELLQDFQKQVVALAFVGLQVPV	8.0	8.0	-	-	4310_17:78223058-78223058 G>T_GLGELLQDFQKQVVALAFVGLQVPV
17:27076527-27076527 A>G	1.0	4310	MELANOMA	-	-	-	-	TRAF4	uc002hcq.1,p.N174D|NM_004295,p.N449D|ENST00000262395,p.N449D|ENST00000262396,p.N174D|uc002hcs.3,p.N449D	retained_intron, protein_coding, nonsense_mediated_decay	uc002hcs.3	nonsynonymous SNV	exon7	c.A1345G	p.N449D	PKFISHQDIRKRNYVRDDAVFIRAA	PKFISHQDIRKRDYVRDDAVFIRAA	10.0	9.0	-	-	4310_17:27076527-27076527 A>G_PKFISHQDIRKRDYVRDDAVFIRAA
2:179476144-179476144 C>T	1.0	4310	MELANOMA	-	-	ID=COSM1012189,COSM1591437,COSM1012186,COSM1012188,COSM1012190;OCCURENCE=1(endometrium)	-	TTN	NM_133432,p.E7998K|NM_003319,p.E7873K|ENST00000591111,p.E15297K|uc021vsy.2,p.E14370K|ENST00000342992,p.E14370K|NM_001267550,p.E16938K|uc021vta.2,p.E7998K|ENST00000460472,p.E7873K|uc021vsz.2,p.E8065K|ENST00000342175,p.E8065K|NM_133437,p.E8065K|ENST00000359218,p.E7998K|NM_001256850,p.E15297K|ENST00000589042,p.E16938K|uc031rqd.1,p.E15297K|uc021vtb.2,p.E7873K|NM_133378,p.E14370K|uc031rqc.1,p.E16938K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon219	c.G45889A	p.E15297K	LRVRAVNAIGVSEPSEISENVVAKD	LRVRAVNAIGVSKPSEISENVVAKD	4.0	7.0	-	-	4310_2:179476144-179476144 C>T_LRVRAVNAIGVSKPSEISENVVAKD
11:9068907-9068907 T>A	1.0	4310	MELANOMA	-	-	-	-	SCUBE2	NM_020974,p.Q666H|ENST00000520467,p.Q666H|uc001mhi.2,p.Q666H	retained_intron, protein_coding, processed_transcript	uc001mhi.2	nonsynonymous SNV	exon16	c.A1998T	p.Q666H	ESCGVGQGHAENQCGLCQPGEYSAD	ESCGVGQGHAENHCGLCQPGEYSAD	9.0	8.0	-	-	4310_11:9068907-9068907 T>A_ESCGVGQGHAENHCGLCQPGEYSAD
7:18801810-18801810 G>A	0.0	4310	MELANOMA	-	-	-	-	HDAC9	uc003suh.3,p.E689K|uc003sui.3,p.E692K|NM_178425,p.E692K|ENST00000432645,p.E689K|NM_058176,p.E689K|uc003sua.1,p.E667K|NM_178423,p.E689K|ENST00000406451,p.E689K|uc003suj.3,p.E648K|ENST00000441542,p.E692K|ENST00000401921,p.E648K|uc011jyd.2,p.E689K|uc003sue.3,p.E689K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyd.2	nonsynonymous SNV	exon14	c.G2065A	p.E689K	CERIQGRKASLEEIQLVHSEHHSLL	CERIQGRKASLEKIQLVHSEHHSLL	6.0	4.0	-	-	4310_7:18801810-18801810 G>A_CERIQGRKASLEKIQLVHSEHHSLL
11:65146863-65146863 G>A	1.0	4310	MELANOMA	-	-	-	-	SLC25A45	ENST00000398802,p.T108I|uc001odr.1,p.T108I|NM_001278250,p.T84I|ENST00000534028,p.T84I|ENST00000527174,p.T108I|ENST00000417511,p.T66I|NM_182556,p.T108I|uc001odt.1,p.T66I|ENST00000294187,p.T66I|ENST00000360662,p.T84I|uc001ods.1,p.T66I|NM_001077241,p.T66I|uc001odq.2,p.T84I|NM_001278251,p.T66I	retained_intron, protein_coding, nonsense_mediated_decay	uc001odt.1	nonsynonymous SNV	exon8	c.C197T	p.T66I	PPSYMHIFLAGCTGGFLQAYCLAPF	PPSYMHIFLAGCIGGFLQAYCLAPF	5.0	8.0	-	-	4310_11:65146863-65146863 G>A_PPSYMHIFLAGCIGGFLQAYCLAPF
10:72014864-72014864 G>A	0.0	4310	MELANOMA	-	-	-	-	NPFFR1	ENST00000277942,p.S381F|uc021psj.1,p.S381F|ENST00000449957,p.S379F|NM_022146,p.S381F	protein_coding	uc021psj.1	nonsynonymous SNV	exon4	c.C1142T	p.S381F	HRRVFVVVRPSDSGLPSESGPSSGA	HRRVFVVVRPSDFGLPSESGPSSGA	2.0	9.0	-	-	4310_10:72014864-72014864 G>A_HRRVFVVVRPSDFGLPSESGPSSGA
19:846354-846354 C>T	0.0	4310	MELANOMA	-	-	-	-	PRTN3	ENST00000544537,p.R152C|NM_002777,p.R193C|uc021umb.1,p.R152C|uc002lqa.1,p.R193C|ENST00000234347,p.R193C	retained_intron, protein_coding	uc021umb.1	nonsynonymous SNV	exon3	c.C454T	p.R152C	FCRPHNICTFVPRRKAGICFGDSGG	FCRPHNICTFVPCRKAGICFGDSGG	1.0	3.0	-	-	4310_19:846354-846354 C>T_FCRPHNICTFVPCRKAGICFGDSGG
6:24578395-24578395 G>A	0.0	4310	MELANOMA	-	-	-	-	KIAA0319	uc003neh.1,p.S483L|ENST00000543707,p.S483L|ENST00000535378,p.S474L|uc011djq.1,p.S474L|ENST00000537886,p.S483L|uc011djp.2,p.S438L|NM_001168377,p.S483L|NM_001168374,p.S474L|NM_001168375,p.S483L|NM_001168376,p.S438L|ENST00000430948,p.S438L|uc011djr.1,p.S483L|NM_014809,p.S483L|ENST00000378214,p.S483L|uc011djo.2,p.S483L	protein_coding	uc011djr.1	nonsynonymous SNV	exon9	c.C1448T	p.S483L	EEINGPFIEEKTSVDSPVLRLSNLD	EEINGPFIEEKTLVDSPVLRLSNLD	1.0	5.0	-	-	4310_6:24578395-24578395 G>A_EEINGPFIEEKTLVDSPVLRLSNLD
1:186277142-186277142 A>G	0.0	4310	MELANOMA	-	-	-	-	PRG4	NM_005807,p.E764G|uc009wyl.3,p.E671G|NM_001127709,p.E671G|ENST00000367486,p.E721G|uc001gru.4,p.E764G|ENST00000367482,p.E630G|ENST00000367483,p.E723G|ENST00000367485,p.E671G|uc009wym.3,p.E630G|NM_001127710,p.E630G|NM_001127708,p.E723G|ENST00000445192,p.E764G|uc001grt.4,p.E723G	protein_coding	uc009wym.3	nonsynonymous SNV	exon4	c.A1889G	p.E630G	TTPKGTAPTTPKEPAPTTPKEPAPT	TTPKGTAPTTPKGPAPTTPKEPAPT	5.0	1.0	-	-	4310_1:186277142-186277142 A>G_TTPKGTAPTTPKGPAPTTPKEPAPT
8:104898415-104898415 G>A	1.0	4310	MELANOMA	-	-	-	-	RIMS2	ENST00000406091,p.D530N|uc003ylr.3,p.D338N|NM_014677,p.D338N|ENST00000515551,p.D338N|ENST00000408894,p.D338N|NM_001282881,p.D338N|uc003ylp.3,p.D530N|uc003ylw.2,p.D338N|NM_001100117,p.D530N|ENST00000504942,p.D530N|uc003ylq.3,p.D338N|ENST00000436393,p.D308N|ENST00000262231,p.D338N|ENST00000507740,p.D338N|uc003yls.3,p.D308N	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon2	c.G1012A	p.D338N	ELASTPEYTSCDDVEIESESVSEKG	ELASTPEYTSCDNVEIESESVSEKG	4.0	10.0	-	-	4310_8:104898415-104898415 G>A_ELASTPEYTSCDNVEIESESVSEKG
7:63982156-63982156 C>T	1.0	4310	MELANOMA	-	-	-	-	ZNF680	uc003tta.2,p.E326K|NM_178558,p.E326K|ENST00000309683,p.E326K	retained_intron, protein_coding, processed_transcript	uc003tta.2	nonsynonymous SNV	exon4	c.G976A	p.E326K	RIHTGEKPFKCEECGKDFNQFSNLT	RIHTGEKPFKCEKCGKDFNQFSNLT	10.0	10.0	-	-	4310_7:63982156-63982156 C>T_RIHTGEKPFKCEKCGKDFNQFSNLT
5:21755898-21755898 C>T	0.0	4310	MELANOMA	-	-	-	-	CDH12	ENST00000504376,p.E563K|NM_004061,p.E563K|ENST00000382254,p.E563K|uc003jgk.2,p.E563K|uc011cno.1,p.E523K|uc010iuc.2,p.E563K|ENST00000522262,p.E523K	retained_intron, protein_coding, processed_transcript	uc011cno.1	nonsynonymous SNV	exon11	c.G1567A	p.E523K	ETRRNGYSRRQQELYFLPVVIEDSS	ETRRNGYSRRQQKLYFLPVVIEDSS	1.0	2.0	-	-	4310_5:21755898-21755898 C>T_ETRRNGYSRRQQKLYFLPVVIEDSS
2:203379611-203379611 G>A	0.0	4310	MELANOMA	-	-	-	-	BMPR2	uc010ftr.3,p.G177E|ENST00000374574,p.G177E|NM_001204,p.G177E|ENST00000374580,p.G177E|uc002uzf.4,p.G177E	protein_coding, processed_transcript	uc010ftr.3	nonsynonymous SNV	exon5	c.G530A	p.G177E	IVALCFGYRMLTGDRKQGLHSMNMM	IVALCFGYRMLTEDRKQGLHSMNMM	8.0	1.0	-	-	4310_2:203379611-203379611 G>A_IVALCFGYRMLTEDRKQGLHSMNMM
17:78055693-78055693 G>A	1.0	4310	MELANOMA	-	-	-	-	CCDC40	uc002jxm.4,p.E392K|uc010dht.3,p.E609K|ENST00000397545,p.E609K|uc021uem.1,p.E609K|NM_001243342,p.E609K|NM_017950,p.E609K|ENST00000374877,p.E609K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uem.1	nonsynonymous SNV	exon12	c.G1825A	p.E609K	LSQDQLEQMILTEELQAIRQAIQGE	LSQDQLEQMILTKELQAIRQAIQGE	6.0	8.0	-	-	4310_17:78055693-78055693 G>A_LSQDQLEQMILTKELQAIRQAIQGE
8:95653641-95653641 T>G	0.0	4310	MELANOMA	-	-	-	-	ESRP1	ENST00000454170,p.L32R|uc003ygq.4,p.L32R|ENST00000358397,p.L32R|NM_001122825,p.L32R|NM_017697,p.L32R|ENST00000433389,p.L32R|uc003ygu.4,p.L32R|NM_001122827,p.L32R|NM_001122826,p.L32R|uc003ygt.4,p.L32R|uc003ygs.4,p.L32R|NM_001034915,p.L32R|ENST00000423620,p.L32R|uc003ygr.4,p.L32R	retained_intron, protein_coding, processed_transcript	uc003ygu.4	nonsynonymous SNV	exon1	c.T95G	p.L32R	GAKLGSDEKELILLFWKVVDLANKK	GAKLGSDEKELIRLFWKVVDLANKK	4.0	8.0	-	-	4310_8:95653641-95653641 T>G_GAKLGSDEKELIRLFWKVVDLANKK
X:105449821-105449821 A>T	0.0	4310	MELANOMA	-	-	-	-	MUM1L1	uc004emg.2,p.K132N|NM_001171020,p.K132N|ENST00000372552,p.K132N|uc004emf.2,p.K132N|ENST00000337685,p.K132N|NM_152423,p.K132N|ENST00000357175,p.K132N|uc022cca.1,p.K132N	protein_coding	uc022cca.1	nonsynonymous SNV	exon1	c.A396T	p.K132N	NVPQKQSDSPPHKKYRKDEGDLPGC	NVPQKQSDSPPHNKYRKDEGDLPGC	4.0	8.0	CD8	-	4310_X:105449821-105449821 A>T_NVPQKQSDSPPHNKYRKDEGDLPGC
13:103391741-103391741 G>A	0.0	4310	MELANOMA	-	-	-	-	CCDC168	NM_001146197,p.S3769L|uc001vpm.3,p.S3769L	protein_coding	uc001vpm.3	nonsynonymous SNV	exon4	c.C11306T	p.S3769L	LKLQASSNARRVSSAESINRDSLSN	LKLQASSNARRVLSAESINRDSLSN	2.0	9.0	-	-	4310_13:103391741-103391741 G>A_LKLQASSNARRVLSAESINRDSLSN
12:7805289-7805289 C>T	0.0	4310	MELANOMA	-	-	-	-	APOBEC1	NM_001644,p.E63K|uc001qtc.3,p.E18K|ENST00000229304,p.E63K|uc001qtb.3,p.E63K	protein_coding, nonsense_mediated_decay	uc001qtc.3	nonsynonymous SNV	exon2	c.G52A	p.E18K	WRSSGKNTTNHVEVNFIKKFTSERD	WRSSGKNTTNHVKVNFIKKFTSERD	1.0	10.0	-	-	4310_12:7805289-7805289 C>T_WRSSGKNTTNHVKVNFIKKFTSERD
1:181725141-181725141 G>A	0.0	4310	MELANOMA	-	-	-	-	CACNA1E	ENST00000357570,p.E1298K|NM_000721,p.E1347K|NM_001205294,p.E1328K|ENST00000358338,p.E1279K|ENST00000367573,p.E1347K|uc001gox.1,p.E573K|uc009wxt.3,p.E1347K|ENST00000367567,p.E954K|uc001gow.3,p.E1347K|ENST00000367570,p.E1347K|ENST00000526775,p.E1328K|uc009wxs.3,p.E1328K|NM_001205293,p.E1347K|ENST00000360108,p.E1328K	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon29	c.G4039A	p.E1347K	DHEKNKMEVKGREWKRHEFHYDNII	DHEKNKMEVKGRKWKRHEFHYDNII	3.0	10.0	-	-	4310_1:181725141-181725141 G>A_DHEKNKMEVKGRKWKRHEFHYDNII
16:88706353-88706353 T>G	0.0	4310	MELANOMA	-	-	-	-	IL17C	NM_013278,p.L156R|uc002fla.3,p.L156R|ENST00000244241,p.L156R	retained_intron, protein_coding	uc002fla.3	nonsynonymous SNV	exon3	c.T467G	p.L156R	AALNSVRLLQSLLVLRRRPCSRDGS	AALNSVRLLQSLRVLRRRPCSRDGS	1.0	9.0	-	-	4310_16:88706353-88706353 T>G_AALNSVRLLQSLRVLRRRPCSRDGS
3:50211769-50211769 G>A	1.0	4310	MELANOMA	-	-	-	-	SEMA3F	ENST00000002829,p.G148R|NM_004186,p.G148R|uc003cyj.3,p.G148R	retained_intron, protein_coding	uc003cyj.3	nonsynonymous SNV	exon5	c.G442A	p.G148R	GAYNPMCTYVNRGRRAQATPWTQTQ	GAYNPMCTYVNRRRRAQATPWTQTQ	8.0	5.0	-	-	4310_3:50211769-50211769 G>A_GAYNPMCTYVNRRRRAQATPWTQTQ
19:43382353-43382353 C>T	0.0	4310	MELANOMA	-	-	-	-	PSG1	NM_001297773,p.G48R|uc002ouz.2,p.G48R|ENST00000312439,p.G48R|ENST00000244296,p.G48R|uc002ova.2,p.G48R|ENST00000403380,p.G48R|uc002ovd.1,p.G48R|uc002ovb.3,p.G48R|uc002ovc.3,p.G48R|NM_001184825,p.G48R|ENST00000595124,p.G48R|NM_001184826,p.G48R|ENST00000595356,p.G48R|ENST00000436291,p.G48R|uc002oug.1,p.G48R|NM_006905,p.G48R	retained_intron, protein_coding, processed_transcript	uc002ovd.1	nonsynonymous SNV	exon2	c.G142A	p.G48R	VTIEAEPTKVSEGKDVLLLVHNLPQ	VTIEAEPTKVSERKDVLLLVHNLPQ	2.0	4.0	-	-	4310_19:43382353-43382353 C>T_VTIEAEPTKVSERKDVLLLVHNLPQ
16:89347975-89347975 G>A	1.0	4310	MELANOMA	-	-	ID=COSM1709513;OCCURENCE=1(skin)	-	ANKRD11	NM_001256183,p.P1659S|ENST00000378330,p.P1659S|NM_001256182,p.P1659S|uc002fmx.2,p.P1659S|uc002fnc.2,p.P1659S|uc002fnb.1,p.P1616S|ENST00000301030,p.P1659S|uc002fmy.2,p.P1659S|NM_013275,p.P1659S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc002fnc.2	nonsynonymous SNV	exon9	c.C4975T	p.P1659S	PPFKDKKLKESTPIPPAAENKLHPA	PPFKDKKLKESTSIPPAAENKLHPA	8.0	7.0	-	-	4310_16:89347975-89347975 G>A_PPFKDKKLKESTSIPPAAENKLHPA
3:128181545-128181545 C>T	0.0	4310	MELANOMA	-	-	-	-	DNAJB8	uc003ekk.2,p.V182M|uc021xdk.1,p.V182M|ENST00000469083,p.V182M|NM_153330,p.V182M|ENST00000319153,p.V182M	protein_coding	uc021xdk.1	nonsynonymous SNV	exon1	c.G544A	p.V182M	GGSSSGSSGFKSVMSSTEMINGHKV	GGSSSGSSGFKSMMSSTEMINGHKV	1.0	8.0	-	-	4310_3:128181545-128181545 C>T_GGSSSGSSGFKSMMSSTEMINGHKV
17:61483620-61483620 G>A	0.0	4310	MELANOMA	-	-	-	-	TANC2	NM_025185,p.D1117N|ENST00000424789,p.D1117N|uc002jal.4,p.D1117N|uc010wpe.2,p.D1027N|ENST00000389520,p.D1117N|uc002jao.4,p.D218N	retained_intron, protein_coding	uc010wpe.2	nonsynonymous SNV	exon16	c.G3079A	p.D1027N	MMAASEGHLGTVDFLLAQGASIALM	MMAASEGHLGTVNFLLAQGASIALM	7.0	1.0	-	-	4310_17:61483620-61483620 G>A_MMAASEGHLGTVNFLLAQGASIALM
11:68478483-68478483 A>T	0.0	4310	MELANOMA	-	-	-	-	MTL5	ENST00000255087,p.I398N|NM_004923,p.I398N|uc001ooc.3,p.I398N	retained_intron, protein_coding, processed_transcript	uc001ooc.3	nonsynonymous SNV	exon9	c.T1193A	p.I398N	EAQIMCSSICKCIGCKNYEESPERK	EAQIMCSSICKCNGCKNYEESPERK	2.0	10.0	-	-	4310_11:68478483-68478483 A>T_EAQIMCSSICKCNGCKNYEESPERK
15:49031057-49031057 G>A	1.0	4310	MELANOMA	-	-	-	-	CEP152	ENST00000399334,p.P1452S|NM_001194998,p.P1508S|uc001zwz.3,p.P1508S|uc001zwy.3,p.P1452S|NM_014985,p.P1452S|ENST00000380950,p.P1508S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc001zwz.3	nonsynonymous SNV	exon27	c.C4522T	p.P1508S	YPFLGTLGNKPSPRCTPGPSESGCM	YPFLGTLGNKPSSRCTPGPSESGCM	7.0	4.0	-	-	4310_15:49031057-49031057 G>A_YPFLGTLGNKPSSRCTPGPSESGCM
5:140249856-140249856 C>T	0.0	4310	MELANOMA	-	-	-	-	PCDHA11	ENST00000398640,p.P390S|uc011dae.2,p.P390S|NM_031861,p.P390S|NM_018902,p.P390S|uc003lia.2,p.P390S	protein_coding	uc011dae.2	nonsynonymous SNV	exon1	c.C1168T	p.P390S	SGVNGQVTCSLTPHVPFKLVSTFKN	SGVNGQVTCSLTSHVPFKLVSTFKN	3.0	4.0	-	-	4310_5:140249856-140249856 C>T_SGVNGQVTCSLTSHVPFKLVSTFKN
3:195515057-195515057 C>T	0.0	4310	MELANOMA	-	-	-	2	MUC4	ENST00000480843,p.G1132S|NM_018406,p.G1132S|ENST00000466475,p.G1132S|uc021xjp.1,p.G1132S|ENST00000462323,p.G1132S|ENST00000479406,p.G1132S|ENST00000470451,p.G1132S|ENST00000477086,p.G1132S|ENST00000475231,p.G1132S|ENST00000478156,p.G1132S|ENST00000463781,p.G1132S|ENST00000477756,p.G1132S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G3394A	p.G1132S	PLPVTDTSSASTGHATSLPVTDTSS	PLPVTDTSSASTSHATSLPVTDTSS	1.0	1.0	unscreened	-	4310_3:195515057-195515057 C>T_PLPVTDTSSASTSHATSLPVTDTSS
3:195509585-195509585 C>T	0.0	4310	MELANOMA	-	-	-	2	MUC4	uc021xjp.1,p.G2956S|ENST00000480843,p.G2956S|ENST00000477756,p.G2956S|ENST00000479406,p.G2956S|ENST00000477086,p.G2956S|ENST00000475231,p.G2956S|ENST00000478156,p.G2956S|NM_018406,p.G2956S|ENST00000463781,p.G2956S|ENST00000462323,p.G2956S|ENST00000466475,p.G2956S|ENST00000470451,p.G2956S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G8866A	p.G2956S	PLPVTDTSSASTGHATSLPVTDTSS	PLPVTDTSSASTSHATSLPVTDTSS	1.0	1.0	unscreened	-	4310_3:195509585-195509585 C>T_PLPVTDTSSASTSHATSLPVTDTSS
12:68549149-68549149 C>T	0.0	4310	MELANOMA	-	-	-	-	IFNG	ENST00000229135,p.R162Q|NM_000619,p.R162Q|uc001stw.1,p.R162Q	protein_coding	uc001stw.1	nonsynonymous SNV	exon4	c.G485A	p.R162Q	GKRKRSQMLFRGRRASQ	GKRKRSQMLFRGQRASQ	4.0	10.0	-	-	4310_12:68549149-68549149 C>T_GKRKRSQMLFRGQRASQ
3:148599397-148599397 G>A	0.0	4310	MELANOMA	-	-	-	-	CPA3	NM_001870,p.G222E|uc003ewm.3,p.G222E|ENST00000296046,p.G222E	retained_intron, protein_coding	uc003ewm.3	nonsynonymous SNV	exon7	c.G665A	p.G222E	MNFYILPVFNVDGYIWSWTKNRMWR	MNFYILPVFNVDEYIWSWTKNRMWR	1.0	7.0	-	-	4310_3:148599397-148599397 G>A_MNFYILPVFNVDEYIWSWTKNRMWR
7:45123881-45123881 C>T	0.0	4310	MELANOMA	-	-	-	-	NACAD	NM_001146334,p.G633D|uc003tmt.3,p.G633D|ENST00000490531,p.G633D	retained_intron, protein_coding	uc003tmt.3	nonsynonymous SNV	exon2	c.G1898A	p.G633D	AAATIVSQQAEEGLTLPQDSVMTPP	AAATIVSQQAEEDLTLPQDSVMTPP	4.0	1.0	unscreened	-	4310_7:45123881-45123881 C>T_AAATIVSQQAEEDLTLPQDSVMTPP
7:116955238-116955238 C>T	0.0	4310	MELANOMA	-	-	-	-	WNT2	uc003vja.3,p.D63N|ENST00000265441,p.D159N|NM_003391,p.D159N|uc003viz.3,p.D159N	retained_intron, protein_coding, nonsense_mediated_decay	uc003vja.3	nonsynonymous SNV	exon3	c.G187A	p.D63N	DSKGIFDWGGCSDNIDYGIKFARAF	DSKGIFDWGGCSNNIDYGIKFARAF	1.0	9.0	-	-	4310_7:116955238-116955238 C>T_DSKGIFDWGGCSNNIDYGIKFARAF
5:140174706-140174706 G>A	0.0	4310	MELANOMA	-	-	-	-	PCDHA2	uc011czy.2,p.G53R|uc003lhc.1,p.G53R|ENST00000520672,p.G53R|ENST00000378132,p.G53R|ENST00000526136,p.G53R|NM_018905,p.G53R|NM_031495,p.G53R|NM_031496,p.G53R|uc003lhd.2,p.G53R	protein_coding	uc011czy.2	nonsynonymous SNV	exon1	c.G157A	p.G53R	HGTFVGRIAQDLGLELEELVPRLFR	HGTFVGRIAQDLRLELEELVPRLFR	1.0	3.0	unscreened	-	4310_5:140174706-140174706 G>A_HGTFVGRIAQDLRLELEELVPRLFR
X:131348404-131348404 C>T	0.0	4310	MELANOMA	-	-	-	-	RAP2C	NM_021183,p.G115E|uc031tkj.1,p.G49E|NM_001271186,p.G115E|NM_001271187,p.G49E|uc004ewq.5,p.G115E|ENST00000342983,p.G115E|ENST00000370874,p.G115E|uc004ewp.4,p.G115E	protein_coding, processed_transcript	uc031tkj.1	nonsynonymous SNV	exon5	c.G146A	p.G49E	VKRYEKVPLILVGNKVDLEPEREVM	VKRYEKVPLILVENKVDLEPEREVM	6.0	2.0	-	-	4310_X:131348404-131348404 C>T_VKRYEKVPLILVENKVDLEPEREVM
1:186277144-186277144 C>A	0.0	4310	MELANOMA	-	-	-	-	PRG4	uc001gru.4,p.P765T|uc001grt.4,p.P724T|NM_001127709,p.P672T|ENST00000445192,p.P765T|NM_001127708,p.P724T|ENST00000367482,p.P631T|NM_005807,p.P765T|ENST00000367483,p.P724T|ENST00000367486,p.P722T|ENST00000367485,p.P672T|NM_001127710,p.P631T|uc009wym.3,p.P631T|uc009wyl.3,p.P672T	protein_coding	uc009wym.3	nonsynonymous SNV	exon4	c.C1891A	p.P631T	TPKGTAPTTPKEPAPTTPKEPAPTT	TPKGTAPTTPKETAPTTPKEPAPTT	5.0	1.0	unscreened	-	4310_1:186277144-186277144 C>A_TPKGTAPTTPKETAPTTPKEPAPTT
7:148802653-148802653 C>T	0.0	4310	MELANOMA	-	-	ID=COSM265001;OCCURENCE=1(large_intestine)	-	ZNF425	NM_001001661,p.E104K|ENST00000378061,p.E104K|uc003wfj.3,p.E104K|ENST00000483014,p.E126K	retained_intron, protein_coding, processed_transcript	uc003wfj.3	nonsynonymous SNV	exon4	c.G310A	p.E104K	MKNTGKLLCFDDEGTPRTKEEDCRL	MKNTGKLLCFDDKGTPRTKEEDCRL	5.0	10.0	-	-	4310_7:148802653-148802653 C>T_MKNTGKLLCFDDKGTPRTKEEDCRL
9:139092585-139092585 C>T	0.0	4310	MELANOMA	0.0009	-	-	-	LHX3	uc004cgz.3,p.A37T|ENST00000371746,p.A37T|NM_014564,p.A37T	protein_coding	uc004cgz.3	nonsynonymous SNV	exon2	c.G109A	p.A37T	RRADLRREIPLCAGCDQHILDRFIL	RRADLRREIPLCTGCDQHILDRFIL	1.0	2.0	-	-	4310_9:139092585-139092585 C>T_RRADLRREIPLCTGCDQHILDRFIL
9:139092585-139092585 C>T	0.0	4310	MELANOMA	0.0009	-	-	-	LHX3	uc004cha.3,p.A32T|ENST00000371748,p.A32T|NM_178138,p.A32T	protein_coding	uc004cha.3	nonsynonymous SNV	exon2	c.G94A	p.A32T	CTLGGTREIPLCAGCDQHILDRFIL	CTLGGTREIPLCTGCDQHILDRFIL	1.0	2.0	-	-	4310_9:139092585-139092585 C>T_CTLGGTREIPLCTGCDQHILDRFIL
8:67786451-67786451 G>A	1.0	4310	MELANOMA	-	-	-	-	MCMDC2	ENST00000541540,p.M1I	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000541540	nonsynonymous SNV	exon1	c.G3A	p.M1I	MIASTTMVRSAKV	IIASTTMVRSAKV	4.0	10.0	unscreened	-	4310_8:67786451-67786451 G>A_IIASTTMVRSAKV
14:93154299-93154299 C>T	1.0	4310	MELANOMA	-	-	-	-	RIN3	uc001yaq.3,p.P812L|uc010auk.3,p.P549L|uc001yap.3,p.P887L|NM_024832,p.P887L|ENST00000216487,p.P887L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010auk.3	nonsynonymous SNV	exon9	c.C1646T	p.P549L	SVQDFICVSYLEPEQQARTLASRAD	SVQDFICVSYLELEQQARTLASRAD	6.0	4.0	-	-	4310_14:93154299-93154299 C>T_SVQDFICVSYLELEQQARTLASRAD
18:44146231-44146231 T>C	0.0	4310	MELANOMA	-	-	-	-	LOXHD1	ENST00000398722,p.E531G|NM_144612,p.E809G|uc002lcg.1,p.E531G|ENST00000441551,p.E809G|uc010xcw.1,p.E809G|ENST00000536736,p.E809G	retained_intron, protein_coding, nonsense_mediated_decay	uc010xcw.1	nonsynonymous SNV	exon17	c.A2426G	p.E809G	RLEVELYPSEVVEIQKLVHYEVEIW	RLEVELYPSEVVGIQKLVHYEVEIW	1.0	3.0	-	-	4310_18:44146231-44146231 T>C_RLEVELYPSEVVGIQKLVHYEVEIW
11:26734240-26734240 C>T	0.0	4310	MELANOMA	-	-	-	-	SLC5A12	uc001mra.2,p.R118Q|ENST00000280467,p.R118Q|ENST00000396005,p.R118Q|NM_178498,p.R118Q|uc001mrc.4,p.R118Q	retained_intron, protein_coding, nonsense_mediated_decay	uc001mrc.4	nonsynonymous SNV	exon2	c.G353A	p.R118Q	SGITSTYEYLQLRFNKPVRYAATVI	SGITSTYEYLQLQFNKPVRYAATVI	1.0	7.0	-	-	4310_11:26734240-26734240 C>T_SGITSTYEYLQLQFNKPVRYAATVI
6:31778785-31778785 G>A	0.0	4310	MELANOMA	-	-	ID=COSM300531;OCCURENCE=1(large_intestine),1(endometrium)	-	HSPA1L	uc010jte.3,p.A322V|uc003nxh.3,p.A322V|ENST00000417199,p.A322V|NM_005527,p.A322V|ENST00000375654,p.A322V|uc021yuz.1,p.A322V	protein_coding	uc021yuz.1	nonsynonymous SNV	exon1	c.C965T	p.A322V	DLFRGTLEPVEKALRDAKMDKAKIH	DLFRGTLEPVEKVLRDAKMDKAKIH	5.0	1.0	-	-	4310_6:31778785-31778785 G>A_DLFRGTLEPVEKVLRDAKMDKAKIH
5:137537822-137537822 T>C	1.0	4310	MELANOMA	-	-	-	-	CDC23	uc003lcl.3,p.D132G|NM_004661,p.D132G|ENST00000394886,p.D132G	retained_intron, protein_coding, nonsense_mediated_decay	uc003lcl.3	nonsynonymous SNV	exon4	c.A395G	p.D132G	YSRYLSGEKKKDDETVDSLGPLEKG	YSRYLSGEKKKDGETVDSLGPLEKG	8.0	4.0	-	-	4310_5:137537822-137537822 T>C_YSRYLSGEKKKDGETVDSLGPLEKG
4:145061772-145061772 A>T	0.0	4310	MELANOMA	-	-	-	-	GYPA	ENST00000508337,p.I6N	 processed_transcript,retained_intron, protein_coding, nonsense_mediated_decay	ENST00000508337	nonsynonymous SNV	exon1	c.T17A	p.I6N	MYGKIIFVLLLSGDGANP	MYGKINFVLLLSGDGANP	1.0	7.0	-	-	4310_4:145061772-145061772 A>T_MYGKINFVLLLSGDGANP
18:28972233-28972233 G>A	0.0	4310	MELANOMA	-	-	-	-	DSG4	NM_001134453,p.G312E|ENST00000308128,p.G312E|ENST00000359747,p.G312E|uc002kwq.2,p.G312E|uc002kwr.2,p.G312E|NM_177986,p.G312E	protein_coding	uc002kwr.2	nonsynonymous SNV	exon8	c.G935A	p.G312E	TDNWLAQYLILSGNDGNWFDIQTDP	TDNWLAQYLILSENDGNWFDIQTDP	1.0	2.0	-	-	4310_18:28972233-28972233 G>A_TDNWLAQYLILSENDGNWFDIQTDP
12:52680223-52680223 G>A	0.0	4310	MELANOMA	-	-	-	-	KRT81	NM_002281,p.S445F|uc001sab.3,p.S445F|ENST00000327741,p.S445F|uc001sac.3,p.S64F	protein_coding	uc001sac.3	nonsynonymous SNV	exon5	c.C191T	p.S64F	GGVVCGDLCVSGSRPVTGSVCSAPC	GGVVCGDLCVSGFRPVTGSVCSAPC	4.0	9.0	-	-	4310_12:52680223-52680223 G>A_GGVVCGDLCVSGFRPVTGSVCSAPC
6:40400608-40400608 G>A	0.0	4310	MELANOMA	-	-	-	-	LRFN2	NM_020737,p.T82I|ENST00000338305,p.T82I|uc003oph.1,p.T82I	protein_coding	uc003oph.1	nonsynonymous SNV	exon2	c.C245T	p.T82I	QDFANMTGLVDLTLSRNTISHIQPF	QDFANMTGLVDLILSRNTISHIQPF	1.0	9.0	-	-	4310_6:40400608-40400608 G>A_QDFANMTGLVDLILSRNTISHIQPF
1:36757051-36757051 C>T	1.0	4310	MELANOMA	-	-	-	2	THRAP3	NM_005119,p.R608C|uc001caf.4,p.R608C|ENST00000469141,p.R608C|uc001cae.4,p.R608C|ENST00000354618,p.R608C	protein_coding, processed_transcript	uc001caf.4	nonsynonymous SNV	exon7	c.C1822T	p.R608C	DLVHSNKKEQEFRSIFQHIQSAQSQ	DLVHSNKKEQEFCSIFQHIQSAQSQ	9.0	8.0	-	-	4310_1:36757051-36757051 C>T_DLVHSNKKEQEFCSIFQHIQSAQSQ
3:151163622-151163622 C>T	0.0	4310	MELANOMA	-	-	ID=COSM275547;OCCURENCE=1(endometrium),2(large_intestine)	-	IGSF10	NM_178822,p.E1383K|uc011bod.2,p.E1383K|ENST00000282466,p.E1383K	protein_coding, processed_transcript	uc011bod.2	nonsynonymous SNV	exon4	c.G4147A	p.E1383K	PTAMTPPVLTTAETSVKPSVSAFTH	PTAMTPPVLTTAKTSVKPSVSAFTH	3.0	3.0	-	-	4310_3:151163622-151163622 C>T_PTAMTPPVLTTAKTSVKPSVSAFTH
4:145061772-145061772 A>T	0.0	4310	MELANOMA	-	-	-	-	GYPA	uc003ijn.2,p.I6N|ENST00000360771,p.I6N|ENST00000503627,p.I6N|ENST00000504786,p.I6N|ENST00000512064,p.I6N|uc031shj.1,p.I6N|uc010ioq.3,p.I6N|uc010ios.2,p.I6N|NM_002099,p.I6N|ENST00000283126,p.I6N|uc003ijp.4,p.I6N|uc003ijo.4,p.I6N	 processed_transcript,retained_intron, protein_coding, nonsense_mediated_decay	uc031shj.1	nonsynonymous SNV	exon1	c.T17A	p.I6N	MYGKIIFVLLLSEIVSIS	MYGKINFVLLLSEIVSIS	1.0	7.0	-	-	4310_4:145061772-145061772 A>T_MYGKINFVLLLSEIVSIS
2:234106920-234106920 G>A	0.0	4310	MELANOMA	-	-	-	-	INPP5D	ENST00000455936,p.G710E|ENST00000435188,p.G579E|ENST00000359570,p.G946E|ENST00000450745,p.G710E|ENST00000417661,p.G80E|ENST00000445964,p.G579E|ENST00000415617,p.G579E	retained_intron, protein_coding, processed_transcript	ENST00000455936	nonsynonymous SNV	exon20	c.G2129A	p.G710E	QPPKDSPLGPCRGESPPTPPGQPPI	QPPKDSPLGPCREESPPTPPGQPPI	8.0	3.0	-	-	4310_2:234106920-234106920 G>A_QPPKDSPLGPCREESPPTPPGQPPI
8:10466059-10466059 C>A	0.0	4310	MELANOMA	-	-	-	-	RP1L1	ENST00000382483,p.G1850V|NM_178857,p.G1850V|uc003wtc.3,p.G1850V	protein_coding, processed_transcript	uc003wtc.3	nonsynonymous SNV	exon4	c.G5549T	p.G1850V	PEAEGEAQPESEGVEAPEAEGDAQE	PEAEGEAQPESEVVEAPEAEGDAQE	1.0	1.0	-	-	4310_8:10466059-10466059 C>A_PEAEGEAQPESEVVEAPEAEGDAQE
20:9496159-9496159 A>G	0.0	4310	MELANOMA	-	-	-	-	LAMP5	NM_001199897,p.N42D|ENST00000427562,p.N42D|uc010zrc.2,p.N42D|NM_012261,p.N42D|uc002wni.2,p.N42D|ENST00000246070,p.N42D	protein_coding	uc010zrc.2	nonsynonymous SNV	exon2	c.A124G	p.N42D	EQEVENLSGLSTNPEKDIFVVRENG	EQEVENLSGLSTDPEKDIFVVRENG	1.0	7.0	-	-	4310_20:9496159-9496159 A>G_EQEVENLSGLSTDPEKDIFVVRENG
4:145061772-145061772 A>T	0.0	4310	MELANOMA	-	-	-	-	GYPA	uc031she.1,p.I6N|uc011cib.2,p.I6N|ENST00000324022,p.I6N	 processed_transcript,retained_intron, protein_coding, nonsense_mediated_decay	uc031she.1	nonsynonymous SNV	exon1	c.T17A	p.I6N	MYGKIIFVLLLSDTHKRD	MYGKINFVLLLSDTHKRD	1.0	7.0	-	-	4310_4:145061772-145061772 A>T_MYGKINFVLLLSDTHKRD
4:145061772-145061772 A>T	0.0	4310	MELANOMA	-	-	-	-	GYPA	ENST00000512789,p.I6N|uc010ior.3,p.I6N	 processed_transcript,retained_intron, protein_coding, nonsense_mediated_decay	uc010ior.3	nonsynonymous SNV	exon1	c.T17A	p.I6N	MYGKIIFVLLLSGERVQL	MYGKINFVLLLSGERVQL	1.0	7.0	-	-	4310_4:145061772-145061772 A>T_MYGKINFVLLLSGERVQL
17:48605622-48605622 G>A	0.0	4310	MELANOMA	-	-	-	-	MYCBPAP	ENST00000323776,p.E843K|uc010wmr.2,p.E843K|ENST00000436259,p.E806K|NM_032133,p.E843K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wmr.2	nonsynonymous SNV	exon16	c.G2527A	p.E843K	LPEKETIYLNVPEEQDQKSPPIMEV	LPEKETIYLNVPKEQDQKSPPIMEV	3.0	9.0	-	-	4310_17:48605622-48605622 G>A_LPEKETIYLNVPKEQDQKSPPIMEV
1:75097441-75097441 G>A	0.0	4310	MELANOMA	-	-	ID=COSM912103;OCCURENCE=1(endometrium)	-	ERICH3	NM_001002912,p.R259C|uc001dgg.3,p.R259C|ENST00000479666,p.R62C|ENST00000420661,p.R62C|uc001dgi.4,p.R53C|ENST00000326665,p.R259C	protein_coding, processed_transcript	uc001dgi.4	nonsynonymous SNV	exon2	c.C157T	p.R53C	ENRSETWRRRRFRPTTAPNGLEPLL	ENRSETWRRRRFCPTTAPNGLEPLL	1.0	5.0	-	-	4310_1:75097441-75097441 G>A_ENRSETWRRRRFCPTTAPNGLEPLL
1:201179525-201179525 G>T	0.0	4310	MELANOMA	-	-	-	-	IGFN1	ENST00000335211,p.G1835V|NM_001164586,p.G1835V|uc001gwc.3,p.G1835V	retained_intron, protein_coding, nonsense_mediated_decay	uc001gwc.3	nonsynonymous SNV	exon12	c.G5504T	p.G1835V	GAPEGMGSGSKAGFRDGLGGSGEMG	GAPEGMGSGSKAVFRDGLGGSGEMG	1.0	9.0	unscreened	-	4310_1:201179525-201179525 G>T_GAPEGMGSGSKAVFRDGLGGSGEMG
5:140174707-140174707 G>A	0.0	4310	MELANOMA	-	-	-	-	PCDHA2	NM_031495,p.G53E|NM_031496,p.G53E|uc003lhd.2,p.G53E|uc011czy.2,p.G53E|ENST00000378132,p.G53E|NM_018905,p.G53E|ENST00000520672,p.G53E|uc003lhc.1,p.G53E|ENST00000526136,p.G53E	protein_coding	uc011czy.2	nonsynonymous SNV	exon1	c.G158A	p.G53E	HGTFVGRIAQDLGLELEELVPRLFR	HGTFVGRIAQDLELELEELVPRLFR	1.0	3.0	unscreened	-	4310_5:140174707-140174707 G>A_HGTFVGRIAQDLELELEELVPRLFR
4:145061772-145061772 A>T	0.0	4310	MELANOMA	-	-	-	-	GYPA	uc031shf.1,p.I6N	 processed_transcript,retained_intron, protein_coding, nonsense_mediated_decay	uc031shf.1	nonsynonymous SNV	exon1	c.T17A	p.I6N	MYGKIIFVLLLSEITLII	MYGKINFVLLLSEITLII	1.0	7.0	-	-	4310_4:145061772-145061772 A>T_MYGKINFVLLLSEITLII
12:128899399-128899399 G>A	0.0	4310	MELANOMA	-	-	-	-	TMEM132C	uc021rgn.1,p.D70N|NM_001136103,p.D70N|ENST00000435159,p.D70N	protein_coding	uc021rgn.1	nonsynonymous SNV	exon2	c.G208A	p.D70N	AETSFFLKEANQDLLRNSSLQARVE	AETSFFLKEANQNLLRNSSLQARVE	1.0	9.0	-	-	4310_12:128899399-128899399 G>A_AETSFFLKEANQNLLRNSSLQARVE
2:169850226-169850226 C>T	0.0	4310	MELANOMA	-	-	-	-	ABCB11	uc002ueo.1,p.G260S|ENST00000263817,p.G260S|NM_003742,p.G260S	retained_intron, protein_coding, nonsense_mediated_decay	uc002ueo.1	nonsynonymous SNV	exon8	c.G778A	p.G260S	VSPLIGIGAATIGLSVSKFTDYELK	VSPLIGIGAATISLSVSKFTDYELK	1.0	2.0	-	-	4310_2:169850226-169850226 C>T_VSPLIGIGAATISLSVSKFTDYELK
10:7745462-7745462 C>T	0.0	4310	MELANOMA	-	-	-	-	ITIH2	NM_002216,p.P22L|uc001ijs.3,p.P22L|ENST00000379587,p.P22L|ENST00000358415,p.P22L	retained_intron, protein_coding, processed_transcript	uc001ijs.3	nonsynonymous SNV	exon1	c.C65T	p.P22L	CFFLSEVSGFEIPINGLSEFVDYED	CFFLSEVSGFEILINGLSEFVDYED	3.0	9.0	-	-	4310_10:7745462-7745462 C>T_CFFLSEVSGFEILINGLSEFVDYED
17:41001216-41001216 G>A	0.0	4310	MELANOMA	-	-	-	-	AOC2	ENST00000253799,p.E568K|uc002ibt.3,p.E568K|uc002ibu.3,p.E568K|ENST00000452774,p.E568K|NM_001158,p.E568K|NM_009590,p.E568K	protein_coding	uc002ibu.3	nonsynonymous SNV	exon2	c.G1702A	p.E568K	QRPQLTRQVLGKEDLTAFSLGSPLP	QRPQLTRQVLGKKDLTAFSLGSPLP	4.0	9.0	-	-	4310_17:41001216-41001216 G>A_QRPQLTRQVLGKKDLTAFSLGSPLP
6:70778319-70778319 C>T	1.0	4310	MELANOMA	-	-	ID=COSM1312350;OCCURENCE=1(urinary_tract)	-	COL19A1	uc003pfc.1,p.S392F|ENST00000322773,p.S392F|uc010kam.2,p.S288F|NM_001858,p.S392F	protein_coding, processed_transcript	uc010kam.2	nonsynonymous SNV	exon11	c.C863T	p.S288F	DTGPPGPPALPGSLGIQGPQGPPGK	DTGPPGPPALPGFLGIQGPQGPPGK	4.0	5.0	-	-	4310_6:70778319-70778319 C>T_DTGPPGPPALPGFLGIQGPQGPPGK
10:49446147-49446147 G>A	0.0	4310	MELANOMA	-	-	-	-	FRMPD2	uc001jgh.3,p.P239S|uc001jgi.3,p.P270S|NM_001018071,p.P270S|ENST00000407470,p.P239S|ENST00000374201,p.P270S|uc001jgj.3,p.P239S|ENST00000305531,p.P246S	retained_intron, protein_coding, processed_transcript	uc001jgj.3	nonsynonymous SNV	exon7	c.C715T	p.P239S	SLLVNRALPGADPQDQQAGRRLSSG	SLLVNRALPGADSQDQQAGRRLSSG	1.0	9.0	-	-	4310_10:49446147-49446147 G>A_SLLVNRALPGADSQDQQAGRRLSSG
1:23337410-23337410 G>A	0.0	4310	MELANOMA	-	-	-	-	C1orf234	uc001bgh.1,p.S117L|NM_001242521,p.S117L|ENST00000566855,p.S117L	protein_coding	uc001bgh.1	nonsynonymous SNV	exon3	c.C350T	p.S117L	HESICPTLSDCTSSSPS	HESICPTLSDCTLSSPS	1.0	4.0	-	-	4310_1:23337410-23337410 G>A_HESICPTLSDCTLSSPS
X:3240520-3240520 C>T	0.0	4310	MELANOMA	-	-	-	-	MXRA5	NM_015419,p.G1069E|uc004crg.4,p.G1069E|ENST00000217939,p.G1069E	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.G3206A	p.G1069E	KKGMKEMSQTLQGGNMLEGDPTHSR	KKGMKEMSQTLQEGNMLEGDPTHSR	4.0	2.0	-	-	4310_X:3240520-3240520 C>T_KKGMKEMSQTLQEGNMLEGDPTHSR
5:140772810-140772810 G>A	0.0	4310	MELANOMA	-	-	ID=COSM1567396;OCCURENCE=1(large_intestine)	-	PCDHGA8	ENST00000398604,p.E144K|uc003lkb.4,p.E144K|NM_014004,p.E144K|uc003lkd.2,p.E144K|NM_032088,p.E144K	protein_coding	uc003lkd.2	nonsynonymous SNV	exon1	c.G430A	p.E144K	KFQVEDLEVKINEIAVPGARYPLPE	KFQVEDLEVKINKIAVPGARYPLPE	4.0	5.0	-	-	4310_5:140772810-140772810 G>A_KFQVEDLEVKINKIAVPGARYPLPE
9:118950332-118950332 G>A	1.0	4310	MELANOMA	-	-	-	-	PAPPA	ENST00000328252,p.D439N|uc004bjn.3,p.D439N|NM_002581,p.D439N|uc011lxp.1,p.D232N|uc011lxq.2,p.D232N	protein_coding, processed_transcript	uc011lxq.2	nonsynonymous SNV	exon1	c.G694A	p.D232N	ECNHTLTGHDGGDCRHLRHPAFVKK	ECNHTLTGHDGGNCRHLRHPAFVKK	3.0	7.0	-	-	4310_9:118950332-118950332 G>A_ECNHTLTGHDGGNCRHLRHPAFVKK
10:7745462-7745462 C>T	0.0	4310	MELANOMA	-	-	-	-	ITIH2	ENST00000429820,p.P22L	retained_intron, protein_coding, processed_transcript	ENST00000429820	nonsynonymous SNV	exon1	c.C65T	p.P22L	CFFLSEVSGFEIPINGLSERSLPGE	CFFLSEVSGFEILINGLSERSLPGE	3.0	9.0	unscreened	-	4310_10:7745462-7745462 C>T_CFFLSEVSGFEILINGLSERSLPGE
19:22497847-22497847 C>T	0.0	4310	MELANOMA	-	-	-	-	ZNF729	ENST00000357491,p.P543L|ENST00000601693,p.P543L|uc021urs.1,p.P543L|NM_001242680,p.P543L	protein_coding	uc021urs.1	nonsynonymous SNV	exon4	c.C1628T	p.P543L	LRNHQIIHTGEKPYKCEECGKAFKW	LRNHQIIHTGEKLYKCEECGKAFKW	3.0	3.0	-	-	4310_19:22497847-22497847 C>T_LRNHQIIHTGEKLYKCEECGKAFKW
1:33161169-33161169 C>T	0.0	4310	MELANOMA	-	-	-	-	SYNC	NM_030786,p.G177E|uc010ohl.1,p.G177E|ENST00000409190,p.G177E|ENST00000373484,p.G177E|uc001bvt.2,p.G177E|NM_001161708,p.G177E	protein_coding	uc010ohl.1	nonsynonymous SNV	exon2	c.G530A	p.G177E	ENLSIEDLELLEGRFQQCVQAVAQL	ENLSIEDLELLEERFQQCVQAVAQL	5.0	8.0	-	-	4310_1:33161169-33161169 C>T_ENLSIEDLELLEERFQQCVQAVAQL
19:9049925-9049925 G>C	0.0	4310	MELANOMA	-	-	-	2	MUC16	NM_024690,p.A10569G|uc002mkp.3,p.A10569G|ENST00000397910,p.A10569G	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon5	c.C31706G	p.A10569G	TPSVFNRESETTASLVSRSGAERSP	TPSVFNRESETTGSLVSRSGAERSP	2.0	7.0	unscreened	-	4310_19:9049925-9049925 G>C_TPSVFNRESETTGSLVSRSGAERSP
14:104407375-104407375 A>G	0.0	4310	MELANOMA	-	-	-	-	RD3L	ENST00000557640,p.V122A|uc031qqp.1,p.V122A|NM_001257268,p.V122A|ENST00000455348,p.V122A	protein_coding	uc031qqp.1	nonsynonymous SNV	exon3	c.T365C	p.V122A	VLPWEIVYIFKQVLKDFLSSSDRGS	VLPWEIVYIFKQALKDFLSSSDRGS	1.0	8.0	-	-	4310_14:104407375-104407375 A>G_VLPWEIVYIFKQALKDFLSSSDRGS
2:108487252-108487252 G>A	0.0	4310	MELANOMA	-	-	ID=COSM3564925,COSM3564926;OCCURENCE=1(skin)	-	RGPD4	ENST00000354986,p.G931E|uc002tdu.3,p.G118E|ENST00000408999,p.G931E|uc010ywk.2,p.G931E|NM_182588,p.G931E	protein_coding	uc010ywk.2	nonsynonymous SNV	exon20	c.G2792A	p.G931E	SADGFKFGISEPGNQEKESEKPLEN	SADGFKFGISEPENQEKESEKPLEN	7.0	2.0	-	-	4310_2:108487252-108487252 G>A_SADGFKFGISEPENQEKESEKPLEN
1:34208974-34208974 G>A	0.0	4310	MELANOMA	-	-	-	-	CSMD2	ENST00000373381,p.P694S|uc001bxm.1,p.P694S|uc001bxn.1,p.P654S|ENST00000241312,p.P654S|NM_052896,p.P654S|NM_001281956,p.P694S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon14	c.C1960T	p.P654S	APVLGTFSGNQLPSSITSSGHVARL	APVLGTFSGNQLSSSITSSGHVARL	3.0	6.0	-	-	4310_1:34208974-34208974 G>A_APVLGTFSGNQLSSSITSSGHVARL
X:30260812-30260812 G>A	0.0	4310	MELANOMA	-	-	-	-	MAGEB4	NM_002367,p.G187E|ENST00000378982,p.G187E|uc004dcb.3,p.G187E	protein_coding	uc004dcb.3	nonsynonymous SNV	exon1	c.G560A	p.G187E	SYILVSMLGPNDGNQSSAWTLPRNG	SYILVSMLGPNDENQSSAWTLPRNG	1.0	2.0	-	-	4310_X:30260812-30260812 G>A_SYILVSMLGPNDENQSSAWTLPRNG
X:71362103-71362103 C>A	0.0	4310	MELANOMA	-	-	-	-	NHSL2	uc011mqa.2,p.T1082N|NM_001013627,p.T1082N|ENST00000540800,p.T1082N	protein_coding	uc011mqa.2	nonsynonymous SNV	exon7	c.C3245A	p.T1082N	EASPLGSSVEPGTEEKSLISDKTAE	EASPLGSSVEPGNEEKSLISDKTAE	2.0	3.0	-	-	4310_X:71362103-71362103 C>A_EASPLGSSVEPGNEEKSLISDKTAE
X:123514580-123514580 C>T	0.0	4310	MELANOMA	-	-	-	-	TENM1	NM_001163278,p.E2669K|ENST00000371130,p.E2662K|NM_001163279,p.E2668K|uc010nqy.3,p.E2669K|uc004euj.3,p.E2662K|uc011muj.2,p.E2668K|NM_014253,p.E2662K|ENST00000422452,p.E2669K	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon32	c.G8002A	p.E2668K	ARQRAVAQAWTKEQRRLQEGEEGIR	ARQRAVAQAWTKKQRRLQEGEEGIR	3.0	8.0	-	-	4310_X:123514580-123514580 C>T_ARQRAVAQAWTKKQRRLQEGEEGIR
3:126153155-126153155 A>G	0.0	4310	MELANOMA	-	-	-	-	CCDC37	uc003eiu.1,p.N520S|ENST00000352312,p.N520S|uc010hsg.1,p.N521S|NM_182628,p.N520S|ENST00000505024,p.N521S|ENST00000393425,p.N521S	retained_intron, protein_coding, processed_transcript	uc010hsg.1	nonsynonymous SNV	exon14	c.A1562G	p.N521S	TIIEHQLDELLENLEHVPQVKIEQA	TIIEHQLDELLESLEHVPQVKIEQA	1.0	8.0	-	-	4310_3:126153155-126153155 A>G_TIIEHQLDELLESLEHVPQVKIEQA
20:23967116-23967116 C>T	0.0	4310	MELANOMA	-	-	-	-	GGTLC1	ENST00000286890,p.E45K|uc002wts.3,p.E45K|NM_178311,p.E45K|ENST00000335694,p.E45K|NM_178312,p.E45K|uc002wtu.3,p.E45K|ENST00000278765,p.E45K	protein_coding	uc002wtu.3	nonsynonymous SNV	exon2	c.G133A	p.E45K	DDGGTAHLSVVAEDGSAVSATSTIN	DDGGTAHLSVVAKDGSAVSATSTIN	3.0	5.0	-	-	4310_20:23967116-23967116 C>T_DDGGTAHLSVVAKDGSAVSATSTIN
2:192011404-192011404 G>A	0.0	4310	MELANOMA	-	-	-	-	STAT4	ENST00000413064,p.R43C|NM_003151,p.R70C|ENST00000409995,p.R70C|uc002uso.2,p.R70C|ENST00000358470,p.R70C|uc002usn.2,p.R70C|NM_001243835,p.R70C|ENST00000392320,p.R70C|uc002usp.4,p.R70C|uc002usm.2,p.R70C|uc010zgl.2,p.R70C	retained_intron, protein_coding, processed_transcript	uc010zgl.2	nonsynonymous SNV	exon4	c.C208T	p.R70C	QNLLIQLDEQLGRVSKEKNLLLIHN	QNLLIQLDEQLGCVSKEKNLLLIHN	4.0	2.0	-	-	4310_2:192011404-192011404 G>A_QNLLIQLDEQLGCVSKEKNLLLIHN
5:90008182-90008182 G>A	0.0	4310	MELANOMA	-	-	-	-	GPR98	ENST00000405460,p.E3041K|uc003kjv.3,p.E641K|NM_032119,p.E3041K|uc003kju.3,p.E3041K	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon10	c.G1921A	p.E641K	IMILDDDIPEGDEKFQLILTNPSPG	IMILDDDIPEGDKKFQLILTNPSPG	5.0	3.0	-	-	4310_5:90008182-90008182 G>A_IMILDDDIPEGDKKFQLILTNPSPG
16:3187397-3187397 G>A	1.0	4310	MELANOMA	-	-	-	-	ZNF213	ENST00000576416,p.R39K|ENST00000573771,p.R39K|uc010bth.3,p.R39K|ENST00000396878,p.R39K|ENST00000576863,p.R39K|ENST00000574902,p.R39K|NM_004220,p.R39K|uc010btf.3,p.R39K|uc010uws.2,p.R39K|NM_001134655,p.R39K	retained_intron, protein_coding, nonsense_mediated_decay	uc010uws.2	nonsynonymous SNV	exon2	c.G116A	p.R39K	SWEQESAQHEDGRDSEACRQRFRQF	SWEQESAQHEDGKDSEACRQRFRQF	6.0	7.0	-	-	4310_16:3187397-3187397 G>A_SWEQESAQHEDGKDSEACRQRFRQF
4:76489418-76489418 G>A	0.0	4310	MELANOMA	-	-	-	-	C4orf26	uc011cbo.2,p.R69Q|NM_001206981,p.R69Q|ENST00000435974,p.R69Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cbo.2	nonsynonymous SNV	exon3	c.G206A	p.R69Q	TARSLHSPLHLPRGVRSQGPSPSQR	TARSLHSPLHLPQGVRSQGPSPSQR	2.0	6.0	-	-	4310_4:76489418-76489418 G>A_TARSLHSPLHLPQGVRSQGPSPSQR
22:38379782-38379782 C>T	1.0	4310	MELANOMA	-	-	-	-	SOX10	ENST00000427770,p.E4K|uc003auo.1,p.E4K|NM_006941,p.E4K|ENST00000396884,p.E4K|uc010gxj.3,p.E4K|ENST00000360880,p.E4K|uc003aun.1,p.E4K	protein_coding, processed_transcript	uc010gxj.3	nonsynonymous SNV	exon2	c.G10A	p.E4K	MAEEQDLSEVELSPVG	MAEKQDLSEVELSPVG	10.0	7.0	-	-	4310_22:38379782-38379782 C>T_MAEKQDLSEVELSPVG
1:2411379-2411379 G>A	0.0	4310	MELANOMA	-	-	-	-	PLCH2	ENST00000419816,p.E160K|ENST00000378486,p.E160K|uc001aji.1,p.E160K|NM_014638,p.E160K|ENST00000449969,p.E133K|ENST00000378488,p.E160K	retained_intron, protein_coding, processed_transcript	uc001aji.1	nonsynonymous SNV	exon3	c.G478A	p.E160K	TGLRYLMAGISDEDSLARRQRTRDQ	TGLRYLMAGISDKDSLARRQRTRDQ	3.0	8.0	-	-	4310_1:2411379-2411379 G>A_TGLRYLMAGISDKDSLARRQRTRDQ
2:185798364-185798364 G>A	0.0	4310	MELANOMA	-	-	ID=COSM109876;OCCURENCE=2(skin)	-	ZNF804A	ENST00000302277,p.R97Q|uc002uph.3,p.R97Q|NM_194250,p.R97Q	protein_coding	uc002uph.3	nonsynonymous SNV	exon3	c.G290A	p.R97Q	QRLKELKQREFARNVASKSRKDERK	QRLKELKQREFAQNVASKSRKDERK	2.0	3.0	-	-	4310_2:185798364-185798364 G>A_QRLKELKQREFAQNVASKSRKDERK
17:7399922-7399922 C>T	1.0	4310	MELANOMA	-	-	-	-	POLR2A	uc002ghf.4,p.T176I|NM_000937,p.T176I|ENST00000572844,p.T176I|uc002ghe.3,p.T176I|ENST00000322644,p.T176I	retained_intron, protein_coding	uc002ghf.4	nonsynonymous SNV	exon4	c.C527T	p.T176I	FGVEQPEGDEDLTKEKGHGGCGRYQ	FGVEQPEGDEDLIKEKGHGGCGRYQ	9.0	7.0	-	-	4310_17:7399922-7399922 C>T_FGVEQPEGDEDLIKEKGHGGCGRYQ
20:57766789-57766789 G>A	0.0	4310	MELANOMA	-	-	-	-	ZNF831	uc002yan.3,p.E239K|ENST00000371030,p.E239K|NM_178457,p.E239K	protein_coding	uc002yan.3	nonsynonymous SNV	exon1	c.G715A	p.E239K	EGRGESRCQGMHEGASERPLSPGAH	EGRGESRCQGMHKGASERPLSPGAH	3.0	8.0	-	-	4310_20:57766789-57766789 G>A_EGRGESRCQGMHKGASERPLSPGAH
17:62019104-62019104 A>C	0.0	4310	MELANOMA	-	-	-	-	SCN4A	NM_000334,p.I1513S|ENST00000435607,p.I1513S|ENST00000578147,p.I1513S|uc002jds.1,p.I1513S	retained_intron, protein_coding	uc002jds.1	nonsynonymous SNV	exon24	c.T4538G	p.I1513S	MSNFAYVKKESGIDDMFNFETFGNS	MSNFAYVKKESGSDDMFNFETFGNS	3.0	5.0	-	-	4310_17:62019104-62019104 A>C_MSNFAYVKKESGSDDMFNFETFGNS
5:143853366-143853366 G>A	0.0	4310	MELANOMA	-	-	-	-	KCTD16	uc003lnn.1,p.E326K|ENST00000507359,p.E326K|NM_020768,p.E326K|uc003lnm.1,p.E326K|ENST00000512467,p.E326K	protein_coding	uc003lnn.1	nonsynonymous SNV	exon3	c.G976A	p.E326K	SCDSQSEASSPQETVICGPVTRQTN	SCDSQSEASSPQKTVICGPVTRQTN	1.0	3.0	-	-	4310_5:143853366-143853366 G>A_SCDSQSEASSPQKTVICGPVTRQTN
19:50455204-50455204 G>A	0.0	4310	MELANOMA	-	-	-	-	SIGLEC11	uc010ybi.2,p.R496C|uc010ybh.2,p.R592C|ENST00000426971,p.R496C|ENST00000447370,p.R592C|NM_001135163,p.R496C|NM_052884,p.R592C	protein_coding, nonsense_mediated_decay	uc010ybi.2	nonsynonymous SNV	exon9	c.C1486T	p.R496C	VVFRVKICRKEARKRAAAEQDVPST	VVFRVKICRKEACKRAAAEQDVPST	4.0	4.0	-	-	4310_19:50455204-50455204 G>A_VVFRVKICRKEACKRAAAEQDVPST
19:57669838-57669838 C>T	0.0	4310	MELANOMA	-	-	-	-	DUXA	ENST00000554048,p.R99K|uc002qoa.1,p.R99K|NM_001012729,p.R99K	protein_coding	uc002qoa.1	nonsynonymous SNV	exon4	c.G296A	p.R99K	QGQDQPGVEFQSREARRCRTTYSAS	QGQDQPGVEFQSKEARRCRTTYSAS	1.0	3.0	-	-	4310_19:57669838-57669838 C>T_QGQDQPGVEFQSKEARRCRTTYSAS
5:147040968-147040968 C>T	0.0	4310	MELANOMA	-	-	-	-	JAKMIP2	uc010jgo.2,p.R57K|NM_001282282,p.R15K|NM_014790,p.R57K|NM_001270941,p.R57K|ENST00000333010,p.R15K|uc003loq.2,p.R57K|uc011dbx.2,p.R15K|ENST00000507386,p.R57K|ENST00000265272,p.R57K|uc003lor.2,p.R57K|NM_001270934,p.R57K	retained_intron, protein_coding	uc011dbx.2	nonsynonymous SNV	exon2	c.G44A	p.R15K	SKLEREKTQEAKRIRELEQRKHTVL	SKLEREKTQEAKKIRELEQRKHTVL	3.0	4.0	-	-	4310_5:147040968-147040968 C>T_SKLEREKTQEAKKIRELEQRKHTVL
4:166978437-166978437 G>A	0.0	4310	MELANOMA	-	-	-	-	TLL1	NM_012464,p.G608S|uc011cjn.2,p.G631S|ENST00000061240,p.G608S|ENST00000507499,p.G631S|uc003irh.2,p.G608S|uc011cjo.2,p.G432S	protein_coding, nonsense_mediated_decay	uc011cjo.2	nonsynonymous SNV	exon14	c.G1294A	p.G432S	SYQCACEPGYELGPDRRSCEAACGG	SYQCACEPGYELSPDRRSCEAACGG	3.0	4.0	-	-	4310_4:166978437-166978437 G>A_SYQCACEPGYELSPDRRSCEAACGG
5:90016808-90016808 G>A	0.0	4310	MELANOMA	-	-	-	-	GPR98	ENST00000405460,p.R3227Q|uc003kju.3,p.R3227Q|NM_032119,p.R3227Q|uc003kjv.3,p.R827Q	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon13	c.G2480A	p.R827Q	EEANRTVYLNVSRTNGIDLAVSVQW	EEANRTVYLNVSQTNGIDLAVSVQW	5.0	4.0	-	-	4310_5:90016808-90016808 G>A_EEANRTVYLNVSQTNGIDLAVSVQW
7:19184796-19184796 C>T	0.0	4310	MELANOMA	-	-	-	-	FERD3L	NM_152898,p.E64K|ENST00000275461,p.E64K|uc003suo.1,p.E64K	protein_coding	uc003suo.1	nonsynonymous SNV	exon1	c.G190A	p.E64K	RRMARFEEGDPEEEECEVDQGDGEE	RRMARFEEGDPEKEECEVDQGDGEE	1.0	7.0	-	-	4310_7:19184796-19184796 C>T_RRMARFEEGDPEKEECEVDQGDGEE
6:47680193-47680193 G>A	0.0	4310	MELANOMA	-	-	-	-	GPR115	ENST00000371220,p.G191E|uc003oyz.1,p.G191E|NM_153838,p.G134E|uc003ozb.1,p.G134E|ENST00000283303,p.G134E|ENST00000327753,p.G134E|uc003oza.1,p.G134E	protein_coding	uc003ozb.1	nonsynonymous SNV	exon5	c.G401A	p.G134E	FRAPETIESVAQGIRKNCPFDYACI	FRAPETIESVAQEIRKNCPFDYACI	1.0	4.0	-	-	4310_6:47680193-47680193 G>A_FRAPETIESVAQEIRKNCPFDYACI
11:6623240-6623240 G>A	1.0	4310	MELANOMA	-	-	-	-	RRP8	NM_015324,p.P102L|ENST00000254605,p.P102L|ENST00000533907,p.P102L|uc001med.3,p.P102L	retained_intron, protein_coding, nonsense_mediated_decay	uc001med.3	nonsynonymous SNV	exon2	c.C305T	p.P102L	KKGKKKCQKQGPPCSDSEEEVERKK	KKGKKKCQKQGPLCSDSEEEVERKK	7.0	5.0	-	-	4310_11:6623240-6623240 G>A_KKGKKKCQKQGPLCSDSEEEVERKK
4:6082036-6082036 C>T	0.0	4310	MELANOMA	-	-	-	-	JAKMIP1	uc010idd.1,p.E369K|ENST00000409831,p.E369K|ENST00000409021,p.E369K|ENST00000409371,p.E204K|uc003giv.4,p.E369K|uc010ide.3,p.E369K|ENST00000473053,p.E369K|NM_144720,p.E369K|uc010idc.1,p.E204K|uc011bwc.2,p.E204K|ENST00000410077,p.E204K|uc010idb.1,p.E369K|ENST00000282924,p.E369K|uc003giu.4,p.E369K|NM_001099433,p.E369K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bwc.2	nonsynonymous SNV	exon6	c.G610A	p.E204K	IKNLTRENVEMKEKLSAQASLKRHT	IKNLTRENVEMKKKLSAQASLKRHT	4.0	6.0	-	-	4310_4:6082036-6082036 C>T_IKNLTRENVEMKKKLSAQASLKRHT
17:10346796-10346796 C>T	0.0	4310	MELANOMA	-	-	-	-	MYH4	uc002gmn.3,p.E1906K|NM_017533,p.E1906K|ENST00000255381,p.E1906K	protein_coding	uc002gmn.3	nonsynonymous SNV	exon40	c.G5716A	p.E1906K	NVNLAKFRKLQHELEEAKERADIAE	NVNLAKFRKLQHKLEEAKERADIAE	1.0	5.0	-	-	4310_17:10346796-10346796 C>T_NVNLAKFRKLQHKLEEAKERADIAE
11:89536930-89536930 C>A	0.0	4310	MELANOMA	-	rs199962952	-	-	TRIM49	ENST00000532501,p.W148L|ENST00000329758,p.W148L|uc001pdb.3,p.W148L|NM_020358,p.W148L	protein_coding	uc001pdb.3	nonsynonymous SNV	exon4	c.G443T	p.W148L	HREKLLQKMQSLWEKACENHRNLNV	HREKLLQKMQSLLEKACENHRNLNV	4.0	6.0	-	-	4310_11:89536930-89536930 C>A_HREKLLQKMQSLLEKACENHRNLNV
14:70419006-70419006 G>A	0.0	4310	MELANOMA	-	-	-	-	SMOC1	uc001xls.2,p.R84Q|uc001xlt.2,p.R84Q|ENST00000361956,p.R84Q|ENST00000381280,p.R84Q|NM_001034852,p.R84Q|NM_022137,p.R84Q	retained_intron, protein_coding, processed_transcript	uc001xlt.2	nonsynonymous SNV	exon2	c.G251A	p.R84Q	AKCRDPTLGVVHRGRCKDAGQSKCR	AKCRDPTLGVVHQGRCKDAGQSKCR	2.0	4.0	-	-	4310_14:70419006-70419006 G>A_AKCRDPTLGVVHQGRCKDAGQSKCR
6:151859240-151859240 G>A	1.0	4310	MELANOMA	-	-	-	-	CCDC170	ENST00000239374,p.E83K|NM_025059,p.E83K|ENST00000367290,p.E83K|uc003qol.3,p.E83K	retained_intron, protein_coding, processed_transcript	uc003qol.3	nonsynonymous SNV	exon3	c.G247A	p.E83K	LSKEVSCQELKAEMESYKENNARKS	LSKEVSCQELKAKMESYKENNARKS	3.0	4.0	-	-	4310_6:151859240-151859240 G>A_LSKEVSCQELKAKMESYKENNARKS
1:75065472-75065472 C>T	0.0	4310	MELANOMA	-	-	-	-	ERICH3	ENST00000326665,p.E545K|ENST00000420661,p.E348K|uc001dgg.3,p.E545K|uc001dgi.4,p.E339K|NM_001002912,p.E545K	protein_coding, processed_transcript	uc001dgi.4	nonsynonymous SNV	exon6	c.G1015A	p.E339K	DKKDNLDPEKESETSSQKAPDARDN	DKKDNLDPEKESKTSSQKAPDARDN	1.0	3.0	-	-	4310_1:75065472-75065472 C>T_DKKDNLDPEKESKTSSQKAPDARDN
17:59560371-59560371 C>A	0.0	4310	MELANOMA	-	-	-	-	TBX4	ENST00000240335,p.L378M|uc010ddo.3,p.L379M|uc010woy.2,p.L379M|NM_018488,p.L378M|ENST00000393853,p.L379M|uc002izi.3,p.L378M	retained_intron, protein_coding, processed_transcript	uc010woy.2	nonsynonymous SNV	exon8	c.C1135A	p.L379M	YFRSPPPYDQQMLSPSYCSEVTPRE	YFRSPPPYDQQMMSPSYCSEVTPRE	3.0	4.0	-	-	4310_17:59560371-59560371 C>A_YFRSPPPYDQQMMSPSYCSEVTPRE
3:7456838-7456838 C>T	0.0	4310	MELANOMA	-	-	ID=COSM1719016;OCCURENCE=2(NS)	-	GRM7	ENST00000403881,p.R388C|ENST00000445087,p.R45C|ENST00000467425,p.R388C|ENST00000389335,p.R388C|NM_181874,p.R388C|uc010hcg.2,p.R388C|ENST00000486284,p.R388C|uc003bqm.2,p.R388C|ENST00000389336,p.R388C|uc003bql.2,p.R388C|ENST00000402647,p.R388C|ENST00000357716,p.R388C|NM_000844,p.R388C|ENST00000440923,p.R388C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hcg.2	nonsynonymous SNV	exon5	c.C1162T	p.R388C	LTISGSKKEDTDRKCTGQERIGKDS	LTISGSKKEDTDCKCTGQERIGKDS	3.0	6.0	-	-	4310_3:7456838-7456838 C>T_LTISGSKKEDTDCKCTGQERIGKDS
1:50887206-50887206 C>T	0.0	4310	MELANOMA	-	-	-	-	DMRTA2	uc010onb.2,p.M1I|ENST00000404795,p.M1I|ENST00000418121,p.M1I|uc010ona.2,p.M1I|NM_032110,p.M1I	protein_coding	uc010onb.2	nonsynonymous SNV	exon2	c.G3A	p.M1I	MELRSELPSVPGA	IELRSELPSVPGA	1.0	5.0	unscreened	-	4310_1:50887206-50887206 C>T_IELRSELPSVPGA
1:152327966-152327966 C>T	0.0	4310	MELANOMA	-	-	-	-	FLG2	NM_001014342,p.G766S|ENST00000388718,p.G766S|uc001ezw.4,p.G766S	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.G2296A	p.G766S	QSSGFGQHESRSGQSSYGQHSSGSS	QSSGFGQHESRSSQSSYGQHSSGSS	1.0	6.0	-	-	4310_1:152327966-152327966 C>T_QSSGFGQHESRSSQSSYGQHSSGSS
5:108382893-108382893 G>T	1.0	4323	RECTAL	-	-	-	-	FER	ENST00000438717,p.V465F|uc011cvg.1,p.V465F|ENST00000281092,p.V640F|NM_005246,p.V640F|uc031skp.1,p.V271F|uc003kop.1,p.V640F	protein_coding, processed_transcript, nonsense_mediated_decay	uc031skp.1	nonsynonymous SNV	exon7	c.G811T	p.V271F	TQRQPVYIIMELVSGGDFLTFLRRK	TQRQPVYIIMELFSGGDFLTFLRRK	7.0	9.0	-	-	4323_5:108382893-108382893 G>T_TQRQPVYIIMELFSGGDFLTFLRRK
16:75669605-75669605 A>C	1.0	4323	RECTAL	-	-	-	-	KARS	ENST00000319410,p.S284R|NM_001130089,p.S284R|NM_005548,p.S256R|uc002feq.3,p.S256R|uc002fer.3,p.S284R|uc010cgz.3,p.S100R|ENST00000302445,p.S256R	retained_intron, protein_coding, nonsense_mediated_decay	uc010cgz.3	nonsynonymous SNV	exon4	c.T300G	p.S100R	FIIRSKIITYIRSFLDELGFLEIET	FIIRSKIITYIRRFLDELGFLEIET	10.0	2.0	-	-	4323_16:75669605-75669605 A>C_FIIRSKIITYIRRFLDELGFLEIET
6:32036668-32036668 A>T	1.0	4323	RECTAL	-	-	-	-	TNXB	ENST00000375244,p.Y1945N|NM_019105,p.Y1945N|ENST00000375247,p.Y1945N|uc003nzl.2,p.Y1945N	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon16	c.T5833A	p.Y1945N	DITLSGLESDHRYLVTLYGFSDGKH	DITLSGLESDHRNLVTLYGFSDGKH	6.0	5.0	-	-	4323_6:32036668-32036668 A>T_DITLSGLESDHRNLVTLYGFSDGKH
16:75669605-75669605 A>C	1.0	4323	RECTAL	-	-	-	-	KARS	ENST00000566772,p.S87R	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000566772	nonsynonymous SNV	exon2	c.T261G	p.S87R	FIIRSKIITYIRSFLDELGFLEVRR	FIIRSKIITYIRRFLDELGFLEVRR	10.0	2.0	unscreened	-	4323_16:75669605-75669605 A>C_FIIRSKIITYIRRFLDELGFLEVRR
16:58589306-58589306 C>T	1.0	4323	RECTAL	-	-	-	-	CNOT1	uc002enu.5,p.A909T|ENST00000317147,p.A914T|uc002env.4,p.A914T|NM_001265612,p.A909T|ENST00000569240,p.A909T|ENST00000567188,p.A909T|NM_206999,p.A914T|ENST00000441024,p.A914T|uc002enz.2,p.A343T|uc002enx.4,p.A914T|NM_016284,p.A914T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002enz.2	nonsynonymous SNV	exon12	c.G1027A	p.A343T	FPQYPDKELHITACLFGGIIEKGLV	FPQYPDKELHITTCLFGGIIEKGLV	10.0	2.0	-	-	4323_16:58589306-58589306 C>T_FPQYPDKELHITTCLFGGIIEKGLV
7:158580769-158580769 G>A	1.0	4323	RECTAL	-	-	-	-	ESYT2	ENST00000275418,p.R243W|ENST00000251527,p.R273W|NM_020728,p.R273W|uc003woc.1,p.R97W|uc003wob.1,p.R273W|uc003wod.1,p.R273W	protein_coding, processed_transcript	uc003wod.1	nonsynonymous SNV	exon6	c.C817T	p.R273W	AGVKSIQIHGTMRVILEPLIGDMPL	AGVKSIQIHGTMWVILEPLIGDMPL	9.0	5.0	-	-	4323_7:158580769-158580769 G>A_AGVKSIQIHGTMWVILEPLIGDMPL
7:34994330-34994330 T>C	1.0	4323	RECTAL	-	-	-	-	DPY19L1	uc003tem.4,p.I361V|ENST00000446375,p.I131V|ENST00000310974,p.I361V|NM_015283,p.I361V	retained_intron, protein_coding, processed_transcript	uc003tem.4	nonsynonymous SNV	exon13	c.A1081G	p.I361V	FGTVILKYLTSKIFGIADDAHIGNL	FGTVILKYLTSKVFGIADDAHIGNL	9.0	9.0	-	-	4323_7:34994330-34994330 T>C_FGTVILKYLTSKVFGIADDAHIGNL
9:130630782-130630782 G>C	1.0	4323	RECTAL	-	-	-	-	AK1	ENST00000373176,p.P112A|ENST00000223836,p.P128A|ENST00000373156,p.P112A|NM_000476,p.P112A|uc004bsm.4,p.P112A	protein_coding, nonsense_mediated_decay	uc004bsm.4	nonsynonymous SNV	exon6	c.C334G	p.P112A	QQGEEFERRIGQPTLLLYVDAGPET	QQGEEFERRIGQATLLLYVDAGPET	10.0	6.0	unscreened	-	4323_9:130630782-130630782 G>C_QQGEEFERRIGQATLLLYVDAGPET
8:26217706-26217706 A>C	1.0	4323	RECTAL	-	-	-	-	PPP2R2A	uc011laf.2,p.K133T|NM_002717,p.K123T|ENST00000380737,p.K123T|uc003xeu.3,p.K123T|NM_001177591,p.K133T|ENST00000315985,p.K133T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011laf.2	nonsynonymous SNV	exon5	c.A398C	p.K133T	LLSTNDKTIKLWKISERDKRPEGYN	LLSTNDKTIKLWTISERDKRPEGYN	9.0	10.0	-	-	4323_8:26217706-26217706 A>C_LLSTNDKTIKLWTISERDKRPEGYN
17:7578406-7578406 C>T	1.0	4323	RECTAL	-	-	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	ENST00000445888,p.R175H|NM_001126118,p.R136H|ENST00000455263,p.R175H|ENST00000420246,p.R175H|NM_001126117,p.R43H|NM_001126112,p.R175H|uc002gin.3,p.R82H|NM_000546,p.R175H|NM_001276761,p.R136H|ENST00000269305,p.R175H|uc002gio.3,p.R43H|NM_001126113,p.R175H|NM_001276760,p.R136H|ENST00000359597,p.R175H|uc002gii.2,p.R16H|ENST00000413465,p.R175H|uc010cnf.2,p.R16H|NM_001276697,p.R16H|NM_001126115,p.R43H|uc002gij.3,p.R136H|ENST00000509690,p.R43H|uc031qyq.1,p.R136H|NM_001276695,p.R136H|uc010vug.3,p.R136H|NM_001126114,p.R175H|NM_001276699,p.R16H|uc010cng.2,p.R16H|NM_001126116,p.R43H|uc002gig.1,p.R175H|ENST00000514944,p.R82H|NM_001276696,p.R136H|NM_001276698,p.R16H|uc002gih.3,p.R175H	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon4	c.G407A	p.R136H	YKQSQHMTEVVRRCPHHERCSDSDG	YKQSQHMTEVVRHCPHHERCSDSDG	10.0	10.0	-	-	4323_17:7578406-7578406 C>T_YKQSQHMTEVVRHCPHHERCSDSDG
8:67972756-67972756 A>C	1.0	4323	RECTAL	-	-	-	-	COPS5	ENST00000517406,p.D56E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000517406	nonsynonymous SNV	exon3	c.T168G	p.D56E	PWTKDKGRSQDFDSCLDFQHEVYTF	PWTKDKGRSQDFESCLDFQHEVYTF	8.0	4.0	unscreened	-	4323_8:67972756-67972756 A>C_PWTKDKGRSQDFESCLDFQHEVYTF
1:145330735-145330735 C>G	1.0	4323	RECTAL	-	-	-	-	NBPF20	ENST00000342960,p.L1539V|NM_001278267,p.L2217V|uc021oun.1,p.L451V|uc021oul.2,p.L1539V	protein_coding, processed_transcript	uc021oun.1	nonsynonymous SNV	exon13	c.C1351G	p.L451V	LDEKGPEVLQDSLDRCYSTPSGCLE	LDEKGPEVLQDSVDRCYSTPSGCLE	9.0	1.0	-	-	4323_1:145330735-145330735 C>G_LDEKGPEVLQDSVDRCYSTPSGCLE
9:97220616-97220616 G>T	1.0	4323	RECTAL	-	-	-	-	HIATL1	NM_032558,p.G380V|uc004aur.3,p.G380V|ENST00000375344,p.G380V	protein_coding	uc004aur.3	nonsynonymous SNV	exon11	c.G1139T	p.G380V	RNAESDQQGVAQGIITGIRGLCNGL	RNAESDQQGVAQVIITGIRGLCNGL	9.0	6.0	CD8	-	4323_9:97220616-97220616 G>T_RNAESDQQGVAQVIITGIRGLCNGL
7:138739982-138739982 T>G	1.0	4323	RECTAL	-	-	-	-	ZC3HAV1	ENST00000242351,p.D719A|ENST00000464606,p.D841A|uc003vun.3,p.D719A|NM_020119,p.D719A	protein_coding	uc003vun.3	nonsynonymous SNV	exon10	c.A2156C	p.D719A	SVSLTATFRPQEDFCFLSSKKYKLS	SVSLTATFRPQEAFCFLSSKKYKLS	8.0	3.0	-	-	4323_7:138739982-138739982 T>G_SVSLTATFRPQEAFCFLSSKKYKLS
19:52724328-52724328 T>C	1.0	4323	RECTAL	-	-	-	1	PPP2R1A	ENST00000462990,p.L308S|ENST00000322088,p.L487S|NM_014225,p.L487S|uc002pyq.3,p.L308S|ENST00000444322,p.L432S|uc002pyp.3,p.L487S|uc010ydk.2,p.L432S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ydk.2	nonsynonymous SNV	exon11	c.T1295C	p.L432S	KEWAHATIIPKVLAMSGDPNYLHRM	KEWAHATIIPKVSAMSGDPNYLHRM	10.0	9.0	CD8	-	4323_19:52724328-52724328 T>C_KEWAHATIIPKVSAMSGDPNYLHRM
14:24631468-24631468 C>T	1.0	4323	RECTAL	-	-	-	-	IRF9	ENST00000561342,p.R39W|ENST00000560852,p.R39W	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000561342	nonsynonymous SNV	exon2	c.C115T	p.R39W	GVCWDDTAKTMFRIPWKHAGLGNI	GVCWDDTAKTMFWIPWKHAGLGNI	8.0	6.0	unscreened	-	4323_14:24631468-24631468 C>T_GVCWDDTAKTMFWIPWKHAGLGNI
2:239174205-239174205 T>C	1.0	4323	RECTAL	-	-	-	-	PER2	ENST00000254658,p.I332V|uc002vyc.3,p.I332V|uc010znv.1,p.I332V|NM_022817,p.I332V|ENST00000254657,p.I332V|ENST00000440245,p.I332V|ENST00000355768,p.I332V|uc010fyx.1,p.I332V|uc010znw.1,p.I332V	retained_intron, protein_coding	uc010znw.1	nonsynonymous SNV	exon9	c.A994G	p.I332V	GYEAPRIPPEKRIFTTTHTPNCLFQ	GYEAPRIPPEKRVFTTTHTPNCLFQ	7.0	7.0	-	-	4323_2:239174205-239174205 T>C_GYEAPRIPPEKRVFTTTHTPNCLFQ
2:170359637-170359637 A>T	1.0	4323	RECTAL	-	-	-	-	BBS5	uc002uet.3,p.Q283H|ENST00000392663,p.Q262H|ENST00000554017,p.Q283H|ENST00000513963,p.Q283H|NM_152384,p.Q283H|uc010fpw.3,p.Q262H|uc010zdh.1,p.Q283H|ENST00000295240,p.Q283H	retained_intron, protein_coding, nonsense_mediated_decay,protein_coding	uc010zdh.1	nonsynonymous SNV	exon10	c.A849T	p.Q283H	EKPQPLEALTVEQIQDDVEIDSDGH	EKPQPLEALTVEHIQDDVEIDSDGH	5.0	6.0	-	-	4323_2:170359637-170359637 A>T_EKPQPLEALTVEHIQDDVEIDSDGH
3:65425561-65425563 CTG>-	1.0	4323	RECTAL	-	-	-	-	MAGI1	NM_015520,p.421_421del|ENST00000483466,p.421_421del|uc003dmm.3,p.421_421del|NM_001033057,p.421_421del|ENST00000402939,p.421_421del|ENST00000472257,p.207_207del|uc003dmo.3,p.421_421del|uc003dmn.3,p.421_421del|ENST00000497477,p.421_421del|ENST00000463103,p.296_296del|uc003dmp.3,p.421_421del|NM_004742,p.421_421del|ENST00000330909,p.421_421del|uc010hny.2,p.306_306del	retained_intron, protein_coding, processed_transcript	uc010hny.2	nonframeshift deletion	exon14	c.916_918del	p.306_306del	QQQQQQQQQQQQQTEEWTEDHSALV	QQQQQQQQQQQQTEEWTEDHSALVP	10.0	1.0	unscreened	-	4323_3:65425561-65425563 CTG>-_QQQQQQQQQQQQTEEWTEDHSALVP
2:238991982-238991982 A>T	1.0	4323	RECTAL	-	-	-	-	SCLY	ENST00000254663,p.N299Y|uc010fyv.4,p.N299Y|ENST00000422984,p.N197Y|ENST00000409736,p.N291Y|uc002vxm.4,p.N258Y|ENST00000450965,p.N121Y|ENST00000373332,p.N209Y|uc010znr.2,p.N197Y|ENST00000555827,p.N291Y|NM_016510,p.N299Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010znr.2	nonsynonymous SNV	exon5	c.A589T	p.N197Y	LYPMLFGGGQERNFRPGTENTPMIA	LYPMLFGGGQERYFRPGTENTPMIA	7.0	7.0	-	-	4323_2:238991982-238991982 A>T_LYPMLFGGGQERYFRPGTENTPMIA
8:67972756-67972756 A>C	1.0	4323	RECTAL	-	-	-	-	COPS5	uc003xxf.3,p.I85S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xxf.3	nonsynonymous SNV	exon3	c.T254G	p.I85S	PGLRIKGEAKISIHVLTSNMSHHYF	PGLRIKGEAKISSHVLTSNMSHHYF	8.0	4.0	-	-	4323_8:67972756-67972756 A>C_PGLRIKGEAKISSHVLTSNMSHHYF
14:69358894-69358894 C>T	1.0	4323	RECTAL	-	-	ID=COSM1607888;OCCURENCE=2(liver)	-	ACTN1	NM_001130005,p.R321H|uc010ttd.1,p.R300H|uc001xkn.3,p.R321H|ENST00000394419,p.R321H|NM_001102,p.R321H|ENST00000376839,p.R256H|uc001xkl.3,p.R321H|uc010ttb.2,p.R256H|ENST00000193403,p.R321H|NM_001130004,p.R321H|uc001xkm.3,p.R321H|ENST00000538545,p.R321H|uc001xko.1,p.R256H|ENST00000438964,p.R321H	retained_intron, protein_coding, processed_transcript	uc010ttd.1	nonsynonymous SNV	exon10	c.G899A	p.R300H	MQQKLEDFRDYRRLHKPPKVQEKCQ	MQQKLEDFRDYRHLHKPPKVQEKCQ	10.0	8.0	-	-	4323_14:69358894-69358894 C>T_MQQKLEDFRDYRHLHKPPKVQEKCQ
14:24631468-24631468 C>T	1.0	4323	RECTAL	-	-	-	-	IRF9	ENST00000396864,p.R39W|NM_006084,p.R39W|ENST00000560275,p.R39W|uc001wmq.3,p.R39W|ENST00000559284,p.R39W	retained_intron, protein_coding, nonsense_mediated_decay	uc001wmq.3	nonsynonymous SNV	exon2	c.C115T	p.R39W	GVCWDDTAKTMFRIPWKHAGKQDFR	GVCWDDTAKTMFWIPWKHAGKQDFR	8.0	6.0	-	-	4323_14:24631468-24631468 C>T_GVCWDDTAKTMFWIPWKHAGKQDFR
4:47645058-47645058 G>C	0.0	4323	RECTAL	-	-	-	-	CORIN	NM_001278586,p.L688V|uc011bzh.1,p.L688V|ENST00000504584,p.L688V	retained_intron, protein_coding, processed_transcript	uc011bzh.1	nonsynonymous SNV	exon14	c.C2062G	p.L688V	LNYFLDFTDQVHLFCFTVIKADSAD	LNYFLDFTDQVHVFCFTVIKADSAD	3.0	4.0	-	-	4323_4:47645058-47645058 G>C_LNYFLDFTDQVHVFCFTVIKADSAD
2:238244939-238244939 G>A	0.0	4323	RECTAL	0.0009	-	-	-	COL6A3	ENST00000472056,p.A2328V|ENST00000347401,p.A2734V|NM_004369,p.A2935V|NM_057167,p.A2729V|uc002vwl.2,p.A2935V|uc002vwj.2,p.A316V|NM_057166,p.A2328V|uc002vwo.2,p.A2729V|ENST00000353578,p.A2729V|ENST00000346358,p.A2735V|uc010znj.1,p.A2328V|ENST00000409809,p.A2729V|ENST00000295550,p.A2935V	retained_intron, protein_coding, processed_transcript	uc010znj.1	nonsynonymous SNV	exon37	c.C6983T	p.A2328V	VATKMATVRPPVAVKPATAAKPVAA	VATKMATVRPPVVVKPATAAKPVAA	9.0	3.0	unscreened	-	4323_2:238244939-238244939 G>A_VATKMATVRPPVVVKPATAAKPVAA
1:47124375-47124375 C>G	1.0	4323	RECTAL	-	-	-	-	ATPAF1	ENST00000576409,p.G160A|NM_001243728,p.G49A|ENST00000329231,p.G160A|ENST00000574428,p.G137A|uc001cqh.4,p.G160A|uc010omg.2,p.G49A|uc001cqi.4,p.G160A|ENST00000526821,p.G51A|ENST00000371937,p.G137A|NM_001042546,p.G160A|NM_022745,p.G160A|ENST00000532925,p.G49A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010omg.2	nonsynonymous SNV	exon3	c.G146C	p.G49A	KTDALGKQSVNRGFTKDKTLSSIFN	KTDALGKQSVNRAFTKDKTLSSIFN	9.0	3.0	-	-	4323_1:47124375-47124375 C>G_KTDALGKQSVNRAFTKDKTLSSIFN
11:57003707-57003707 C>A	0.0	4323	RECTAL	-	-	-	-	APLNR	ENST00000606794,p.A258S|NM_005161,p.A258S|ENST00000257254,p.A258S|uc001njo.3,p.A258S	protein_coding	uc001njo.3	nonsynonymous SNV	exon1	c.G772T	p.A258S	LLSIIVVLVVTFALCWMPYHLVKTL	LLSIIVVLVVTFSLCWMPYHLVKTL	5.0	4.0	-	-	4323_11:57003707-57003707 C>A_LLSIIVVLVVTFSLCWMPYHLVKTL
8:67972756-67972756 A>C	1.0	4323	RECTAL	-	-	-	-	COPS5	ENST00000518374,p.D56E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000518374	nonsynonymous SNV	exon3	c.T168G	p.D56E	PWTKDKGRSQDFDSCLDFQHESPLL	PWTKDKGRSQDFESCLDFQHESPLL	8.0	4.0	unscreened	-	4323_8:67972756-67972756 A>C_PWTKDKGRSQDFESCLDFQHESPLL
1:144823842-144823842 G>A	1.0	4323	RECTAL	-	rs4125365	ID=COSM3976032,COSM3976031,COSM3976033,COSM3976030,COSM3976029;OCCURENCE=1(lung)	-	NBPF8,NBPF9	ENST00000338347,p.G370E|uc021ouf.1,p.G288E|ENST00000281815,p.G55E|ENST00000440491,p.G370E|uc010oye.3,p.G429E	protein_coding, processed_transcript	uc021ouf.1	nonsynonymous SNV	exon9	c.G863A	p.G288E	GPRLSRELLDEKGPEVLQDSLYRCY	GPRLSRELLDEKEPEVLQDSLYRCY	10.0	1.0	unscreened	-	4323_1:144823842-144823842 G>A_GPRLSRELLDEKEPEVLQDSLYRCY
6:136599762-136599762 C>G	0.0	4323	RECTAL	-	-	-	2	BCLAF1	ENST00000527613,p.G86A|NM_001301038,p.G84A|ENST00000532384,p.G86A|ENST00000527759,p.G84A|ENST00000527536,p.G86A|ENST00000531224,p.G86A|NM_001077440,p.G84A|ENST00000534269,p.G84A|uc003qgx.1,p.G86A|uc003qgy.1,p.G84A|uc011ede.1,p.G84A|ENST00000353331,p.G84A|ENST00000530767,p.G86A|ENST00000529826,p.G86A|NM_014739,p.G86A|ENST00000530429,p.G84A|uc003qgw.1,p.G86A|NM_001077441,p.G86A|ENST00000392348,p.G84A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ede.1	nonsynonymous SNV	exon4	c.G251C	p.G84A	RGRGRGYYQGGGGRYHRGGYRPVWN	RGRGRGYYQGGGARYHRGGYRPVWN	10.0	2.0	-	-	4323_6:136599762-136599762 C>G_RGRGRGYYQGGGARYHRGGYRPVWN
4:15004375-15004375 G>T	1.0	4323	RECTAL	-	-	-	-	CPEB2	uc003gnm.2,p.E26D|NM_182485,p.E26D|NM_001177384,p.E26D|NM_001177383,p.E26D|uc003gnl.2,p.E26D|uc003gni.2,p.E26D|uc003gnj.2,p.E26D|NM_001177381,p.E26D|ENST00000442003,p.E26D|NM_001177382,p.E26D|uc003gnn.2,p.E26D|ENST00000538197,p.E26D|ENST00000541112,p.E26D|uc003gnk.2,p.E26D|NM_182646,p.E26D	retained_intron, protein_coding	uc003gnn.2	nonsynonymous SNV	exon1	c.G78T	p.E26D	LRSSSPGPLFCGEAYGPYAVGSVNP	LRSSSPGPLFCGDAYGPYAVGSVNP	6.0	9.0	-	-	4323_4:15004375-15004375 G>T_LRSSSPGPLFCGDAYGPYAVGSVNP
7:152345814-152345814 T>G	1.0	4323	RECTAL	-	-	-	-	XRCC2	ENST00000359321,p.Q252H|uc003wld.3,p.Q252H|NM_005431,p.Q252H	protein_coding, processed_transcript	uc003wld.3	nonsynonymous SNV	exon3	c.A756C	p.Q252H	FFSKQDDSQSSNQFSLVSRCLKSNS	FFSKQDDSQSSNHFSLVSRCLKSNS	5.0	7.0	-	-	4323_7:152345814-152345814 T>G_FFSKQDDSQSSNHFSLVSRCLKSNS
20:13971148-13971148 C>G	0.0	4323	RECTAL	-	-	-	-	SEL1L2	NM_001271539,p.L11F|uc010zrl.3,p.L11F|ENST00000378072,p.L11F|ENST00000423870,p.L11F|ENST00000284951,p.L11F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zrl.3	nonsynonymous SNV	exon1	c.G33C	p.L11F	MKPLSLLIEILIILGVTIKTIKA	MKPLSLLIEIFIILGVTIKTIKA	1.0	2.0	-	-	4323_20:13971148-13971148 C>G_MKPLSLLIEIFIILGVTIKTIKA
12:58151766-58151766 G>A	1.0	4323	RECTAL	-	-	-	-	MARCH9	ENST00000548358,p.R17K|uc001spy.3,p.R17K	retained_intron, protein_coding	uc001spy.3	nonsynonymous SNV	exon1	c.G50A	p.R17K	KCHILDLIKAQRRQMLILPEGFREG	KCHILDLIKAQRKQMLILPEGFREG	6.0	2.0	-	-	4323_12:58151766-58151766 G>A_KCHILDLIKAQRKQMLILPEGFREG
6:33260945-33260945 A>T	1.0	4323	RECTAL	-	-	-	-	RGL2	NM_004761,p.S619T|ENST00000497454,p.S619T|uc003odv.3,p.S619T|uc003odw.3,p.S537T|NM_001243738,p.S537T|uc003odu.3,p.S179T|uc010jur.3,p.S179T	retained_intron, protein_coding, processed_transcript	uc010jur.3	nonsynonymous SNV	exon13	c.T535A	p.S179T	SPRPSRGHRRSASCGSPLSGGAEEA	SPRPSRGHRRSATCGSPLSGGAEEA	8.0	7.0	-	-	4323_6:33260945-33260945 A>T_SPRPSRGHRRSATCGSPLSGGAEEA
11:124252720-124252720 T>A	0.0	4323	RECTAL	-	-	-	-	OR8B2	NM_001005468,p.I174F|ENST00000375013,p.I174F|uc010sai.2,p.I174F	protein_coding	uc010sai.2	nonsynonymous SNV	exon1	c.A520T	p.I174F	CMLRLTFCSANIINHYLCDILPLLQ	CMLRLTFCSANIFNHYLCDILPLLQ	1.0	5.0	-	-	4323_11:124252720-124252720 T>A_CMLRLTFCSANIFNHYLCDILPLLQ
1:57378149-57378149 G>A	0.0	4323	RECTAL	-	rs1620075	ID=COSM2237052;OCCURENCE=1(thyroid)	-	C8A	NM_000562,p.R485H|uc001cyo.2,p.R485H|ENST00000361249,p.R485H	protein_coding	uc001cyo.2	nonsynonymous SNV	exon10	c.G1454A	p.R485H	LGPLEAKRQNLRRALDQYLMEFNAC	LGPLEAKRQNLRHALDQYLMEFNAC	5.0	8.0	-	-	4323_1:57378149-57378149 G>A_LGPLEAKRQNLRHALDQYLMEFNAC
16:31372475-31372475 A>G	0.0	4323	RECTAL	-	-	-	-	ITGAX	ENST00000268296,p.D318G|uc002ebt.3,p.D318G|uc002ebu.1,p.D318G|NM_001286375,p.D318G|ENST00000562522,p.D318G|NM_000887,p.D318G	retained_intron, protein_coding, processed_transcript	uc002ebu.1	nonsynonymous SNV	exon9	c.A953G	p.D318G	SKPSQEHIFKVEDFDALKDIQNQLK	SKPSQEHIFKVEGFDALKDIQNQLK	7.0	3.0	-	-	4323_16:31372475-31372475 A>G_SKPSQEHIFKVEGFDALKDIQNQLK
1:101343310-101343310 C>T	1.0	4323	RECTAL	0.0009	-	-	-	EXTL2	uc031png.1,p.R60H|NM_001033025,p.R52H|uc031pnh.1,p.R52H|uc001dtm.2,p.R52H|ENST00000535414,p.R39H|ENST00000450240,p.R60H|uc001dtk.2,p.R52H|NM_001261441,p.R60H|uc001dtl.2,p.R52H|ENST00000416479,p.R39H|ENST00000370114,p.R52H|uc010ouk.2,p.R39H|ENST00000370113,p.R52H|NM_001439,p.R52H|NM_001261442,p.R52H|NM_001261440,p.R52H	protein_coding, processed_transcript	uc031pnh.1	nonsynonymous SNV	exon3	c.G155A	p.R52H	LPSVKEDKMLMLRREIKSQGKSTMD	LPSVKEDKMLMLHREIKSQGKSTMD	6.0	3.0	-	-	4323_1:101343310-101343310 C>T_LPSVKEDKMLMLHREIKSQGKSTMD
19:15852854-15852854 C>G	0.0	4323	RECTAL	-	-	-	-	OR10H3	uc010xoq.2,p.L218V|NM_013938,p.L218V|ENST00000305892,p.L218V	protein_coding	uc010xoq.2	nonsynonymous SNV	exon1	c.C652G	p.L218V	VTALIGCLFLIILSFVFIVAAILRI	VTALIGCLFLIIVSFVFIVAAILRI	1.0	9.0	unscreened	-	4323_19:15852854-15852854 C>G_VTALIGCLFLIIVSFVFIVAAILRI
10:51853633-51853633 C>T	1.0	4323	RECTAL	-	rs199520696	-	-	FAM21A	NM_001005751,p.T379M|uc001jjb.3,p.T379M|ENST00000351071,p.T379M|ENST00000399339,p.T291M|uc010qhj.2,p.T379M|uc009xoq.3,p.T291M|uc001jja.1,p.T131M|NM_001291398,p.T379M|uc010qhi.2,p.T379M|ENST00000282633,p.T379M|ENST00000314664,p.T379M	protein_coding, processed_transcript	uc010qhj.2	nonsynonymous SNV	exon13	c.C1136T	p.T379M	LFDDEDEESDLFTEAPQDRQAGASV	LFDDEDEESDLFMEAPQDRQAGASV	10.0	8.0	unscreened	-	4323_10:51853633-51853633 C>T_LFDDEDEESDLFMEAPQDRQAGASV
7:19765210-19765210 G>C	0.0	4323	RECTAL	-	-	-	-	TMEM196	ENST00000422233,p.A61G|uc011jyg.2,p.A129G|ENST00000493519,p.A61G|ENST00000405764,p.A129G|ENST00000433641,p.A61G|NM_152774,p.A129G|ENST00000405844,p.A129G	protein_coding	uc011jyg.2	nonsynonymous SNV	exon3	c.C386G	p.A129G	GCTLSSWLTCRLASYEQRRMFSERE	GCTLSSWLTCRLGSYEQRRMFSERE	1.0	9.0	-	-	4323_7:19765210-19765210 G>C_GCTLSSWLTCRLGSYEQRRMFSERE
19:13050046-13050046 A>C	1.0	4323	RECTAL	-	-	-	1	CALR	NM_004343,p.K64Q|uc002mvu.2,p.K64Q|ENST00000316448,p.K64Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002mvu.2	nonsynonymous SNV	exon2	c.A190C	p.K64Q	SSGKFYGDEEKDKGLQTSQDARFYA	SSGKFYGDEEKDQGLQTSQDARFYA	10.0	10.0	-	-	4323_19:13050046-13050046 A>C_SSGKFYGDEEKDQGLQTSQDARFYA
19:2717655-2717655 G>C	0.0	4323	RECTAL	-	-	-	-	DIRAS1	ENST00000323469,p.C50W|uc021umt.1,p.C50W|ENST00000585334,p.C50W|ENST00000588128,p.C50W|NM_145173,p.C50W|uc002lwf.3,p.C50W	protein_coding	uc021umt.1	nonsynonymous SNV	exon1	c.C150G	p.C50W	PTIEDTYRQVISCDKSVCTLQITDT	PTIEDTYRQVISWDKSVCTLQITDT	2.0	10.0	-	-	4323_19:2717655-2717655 G>C_PTIEDTYRQVISWDKSVCTLQITDT
1:168510335-168510335 T>A	1.0	4323	RECTAL	-	-	-	-	XCL2	uc001gfn.4,p.K67I|NM_003175,p.K67I|ENST00000367819,p.K67I	protein_coding	uc001gfn.4	nonsynonymous SNV	exon3	c.A200T	p.K67I	LRAVIFITKRGLKVCADPQATWVRD	LRAVIFITKRGLIVCADPQATWVRD	4.0	9.0	-	-	4323_1:168510335-168510335 T>A_LRAVIFITKRGLIVCADPQATWVRD
3:195514733-195514733 C>A	1.0	4323	RECTAL	-	rs201433788	-	2	MUC4	ENST00000466475,p.A1240S|ENST00000477086,p.A1240S|ENST00000463781,p.A1240S|ENST00000462323,p.A1240S|uc021xjp.1,p.A1240S|ENST00000470451,p.A1240S|ENST00000478156,p.A1240S|ENST00000479406,p.A1240S|ENST00000475231,p.A1240S|NM_018406,p.A1240S|ENST00000477756,p.A1240S|ENST00000480843,p.A1240S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G3718T	p.A1240S	DHATSLPVTIPSAASTGHTTPLPVT	DHATSLPVTIPSSASTGHTTPLPVT	10.0	1.0	-	-	4323_3:195514733-195514733 C>A_DHATSLPVTIPSSASTGHTTPLPVT
4:153247366-153247366 C>T	1.0	4323	RECTAL	-	-	ID=COSM1154291,COSM447499,COSM22974,COSM447498,COSM94297;OCCURENCE=3(lung),15(haematopoietic_and_lymphoid_tissue),7(endometrium),1(breast),1(pancreas),1(kidney),13(large_intestine)	1	FBXW7	uc003ims.3,p.R479Q|uc003imt.3,p.R479Q|NM_018315,p.R399Q|NM_001013415,p.R361Q|ENST00000281708,p.R479Q|ENST00000603548,p.R479Q|NM_033632,p.R479Q|uc011cih.2,p.R303Q|ENST00000296555,p.R361Q|ENST00000393956,p.R303Q|uc003imr.3,p.R361Q|ENST00000603841,p.R479Q|uc011cii.2,p.R479Q|uc003imq.3,p.R399Q|ENST00000263981,p.R399Q	protein_coding	uc011cii.2	nonsynonymous SNV	exon11	c.G1436A	p.R479Q	MHLHEKRVVSGSRDATLRVWDIETG	MHLHEKRVVSGSQDATLRVWDIETG	8.0	10.0	-	-	4323_4:153247366-153247366 C>T_MHLHEKRVVSGSQDATLRVWDIETG
17:63223515-63223515 A>G	0.0	4323	RECTAL	-	-	-	-	RGS9	NM_001081955,p.E669G|uc002jfg.3,p.E443G|NM_003835,p.E672G|ENST00000262406,p.E672G|uc002jfe.3,p.E672G|ENST00000449996,p.E669G|uc002jfd.3,p.E669G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jfg.3	nonsynonymous SNV	exon10	c.A1328G	p.E443G	DRATEKEVICPWESL	DRATEKEVICPWGSL	5.0	10.0	-	-	4323_17:63223515-63223515 A>G_DRATEKEVICPWGSL
3:142839880-142839881 GG>-	0.0	4323	RECTAL	-	-	-	-	CHST2	uc021xex.1,p.L74fs|uc003evm.3,p.L74fs|ENST00000309575,p.L74fs|NM_004267,p.L74fs	protein_coding	uc021xex.1	frameshift deletion	exon1	c.222_223del	p.L74fs	YALLLVLTMLNLLDYKWHKEPLQQC	YALLLVLTMLNLLLQVAQGAAAAVQPRWAAGCRSGGSRRQLGAPRAASGRAAPCSCPFGPPHSLPPSRCRRRGGSCSRGRDGGGCGPSRQWHSGHRGRRGQAAAGVRVHHVALWLVVLRRAIQPESRGVLSLRASVACMAKTVSGGRRFPAGGSAGHAERSLPLRPLCLPVV	3.0	2.0	-	-	4323_3:142839880-142839881 GG>-_YALLLVLTMLNLLLQVAQGAAAAVQPRWAAGCRSGGSRRQLGAPRAASGRAAPCSCPFGPPHSLPPSRCRRRGGSCSRGRDGGGCGPSRQWHSGHRGRRGQAAAGVRVHHVALWLVVLRRAIQPESRGVLSLRASVACMAKTVSGGRRFPAGGSAGHAERSLPLRPLCLPVV
11:123908984-123908984 G>A	0.0	4323	RECTAL	-	-	-	-	OR10G7	uc001pzq.1,p.S242F|NM_001004463,p.S242F|ENST00000330487,p.S242F	protein_coding	uc001pzq.1	nonsynonymous SNV	exon1	c.C725T	p.S242F	SEGRHRAFQTCASHCIVVLCFFGPG	SEGRHRAFQTCAFHCIVVLCFFGPG	1.0	6.0	-	-	4323_11:123908984-123908984 G>A_SEGRHRAFQTCAFHCIVVLCFFGPG
12:6887061-6887061 T>A	0.0	4323	RECTAL	-	-	-	-	LAG3	uc001qqt.4,p.F469I|ENST00000203629,p.F469I|NM_002286,p.F469I	retained_intron, protein_coding, processed_transcript	uc001qqt.4	nonsynonymous SNV	exon7	c.T1405A	p.F469I	GVLSLLLLVTGAFGFHLWRRQWRPR	GVLSLLLLVTGAIGFHLWRRQWRPR	5.0	5.0	-	-	4323_12:6887061-6887061 T>A_GVLSLLLLVTGAIGFHLWRRQWRPR
1:89845996-89845996 G>A	0.0	4323	RECTAL	0.0005	-	-	-	GBP6	ENST00000370456,p.R226H|uc010ost.1,p.R96H|NM_198460,p.R226H|uc001dnf.2,p.R226H|ENST00000535065,p.R96H	protein_coding, processed_transcript	uc010ost.1	nonsynonymous SNV	exon4	c.G287A	p.R96H	VQTSNFPRECIRRFFPKRKCFVFDR	VQTSNFPRECIRHFFPKRKCFVFDR	3.0	8.0	-	-	4323_1:89845996-89845996 G>A_VQTSNFPRECIRHFFPKRKCFVFDR
12:6887061-6887061 T>A	0.0	4323	RECTAL	-	-	-	-	LAG3	uc001qqu.3,p.F299I	retained_intron, protein_coding, processed_transcript	uc001qqu.3	nonsynonymous SNV	exon6	c.T895A	p.F299I	GVLSLLLLVTGAFGFHLWRRQVSQG	GVLSLLLLVTGAIGFHLWRRQVSQG	5.0	5.0	-	-	4323_12:6887061-6887061 T>A_GVLSLLLLVTGAIGFHLWRRQVSQG
X:55650660-55650660 G>A	0.0	4323	RECTAL	-	-	-	-	FOXR2	uc004duo.3,p.M172I|NM_198451,p.M172I|ENST00000339140,p.M172I	protein_coding	uc004duo.3	nonsynonymous SNV	exon1	c.G516A	p.M172I	EEPDDNSLQSPEMKCYQSQKLWQIN	EEPDDNSLQSPEIKCYQSQKLWQIN	1.0	10.0	-	-	4323_X:55650660-55650660 G>A_EEPDDNSLQSPEIKCYQSQKLWQIN
15:84909385-84909385 G>A	1.0	4323	RECTAL	-	rs77228815	-	-	GOLGA6L4	ENST00000424966,p.D8N	retained_intron, protein_coding	ENST00000424966	nonsynonymous SNV	exon2	c.G22A	p.D8N	HLRLRQQDERLWQQETLQEL	HLRLRQQNERLWQQETLQEL	7.0	1.0	unscreened	-	4323_15:84909385-84909385 G>A_HLRLRQQNERLWQQETLQEL
20:62421529-62421529 G>T	0.0	4323	RECTAL	-	-	-	-	ZBTB46	ENST00000302995,p.S194R|ENST00000245663,p.S194R|uc002ygv.2,p.S194R|NM_025224,p.S194R|ENST00000395104,p.S194R	protein_coding, processed_transcript	uc002ygv.2	nonsynonymous SNV	exon2	c.C582A	p.S194R	GDSAIASCHDGGSSYGKEDQEPKAD	GDSAIASCHDGGRSYGKEDQEPKAD	3.0	10.0	-	-	4323_20:62421529-62421529 G>T_GDSAIASCHDGGRSYGKEDQEPKAD
15:84909385-84909385 G>A	1.0	4323	RECTAL	-	rs77228815	-	-	GOLGA6L4	NM_001267536,p.D427N|uc021stn.2,p.D291N|ENST00000510439,p.D427N	retained_intron, protein_coding	uc021stn.2	nonsynonymous SNV	exon9	c.G871A	p.D291N	EELLEQERLRQQDERLWQQETLQEL	EELLEQERLRQQNERLWQQETLQEL	7.0	1.0	unscreened	-	4323_15:84909385-84909385 G>A_EELLEQERLRQQNERLWQQETLQEL
15:84909385-84909385 G>A	1.0	4323	RECTAL	-	rs77228815	-	-	GOLGA6L4	ENST00000422563,p.D103N	retained_intron, protein_coding	ENST00000422563	nonsynonymous SNV	exon3	c.G307A	p.D103N	EKLLEQERLRQQDERLWQQETLQEL	EKLLEQERLRQQNERLWQQETLQEL	7.0	1.0	unscreened	-	4323_15:84909385-84909385 G>A_EKLLEQERLRQQNERLWQQETLQEL
1:3425640-3425640 A>T	1.0	4323	RECTAL	-	-	-	-	MEGF6	uc001akk.3,p.F404L|ENST00000356575,p.F509L|uc001akl.3,p.F509L|ENST00000485002,p.F516L|ENST00000294599,p.F404L|NM_001409,p.F509L	retained_intron, protein_coding, nonsense_mediated_decay	uc001akl.3	nonsynonymous SNV	exon12	c.T1527A	p.F509L	AELRGEHTLTEKFVCLDDSFGHDCS	AELRGEHTLTEKLVCLDDSFGHDCS	4.0	3.0	-	-	4323_1:3425640-3425640 A>T_AELRGEHTLTEKLVCLDDSFGHDCS
5:179071892-179071892 C>T	0.0	4323	RECTAL	0.01	-	-	-	C5orf60	uc011dgo.2,p.V44I|ENST00000512899,p.V44I|NM_001142306,p.V44I|ENST00000448248,p.V44I|uc003mki.3,p.V44I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dgo.2	nonsynonymous SNV	exon1	c.G130A	p.V44I	SPIPQIIHFVLFVVFSLVILIILRL	SPIPQIIHFVLFIVFSLVILIILRL	2.0	2.0	unscreened	-	4323_5:179071892-179071892 C>T_SPIPQIIHFVLFIVFSLVILIILRL
4:145041707-145041707 C>A	0.0	4323	RECTAL	-	rs7658293	ID=COSM3683233;OCCURENCE=2(thyroid)	-	GYPA	ENST00000503627,p.E24D|ENST00000512064,p.E24D|uc003ijn.2,p.E24D|NM_002099,p.E24D|uc031shj.1,p.E24D|uc003ijo.4,p.E24D|ENST00000360771,p.E24D|ENST00000504786,p.E24D|uc010ios.2,p.E24D|uc010ioq.3,p.E24D|uc003ijp.4,p.E24D	retained_intron, protein_coding, nonsense_mediated_decay	uc031shj.1	nonsynonymous SNV	exon2	c.G72T	p.E24D	SEIVSISALSTTEVAMHTSTSSSVT	SEIVSISALSTTDVAMHTSTSSSVT	1.0	1.0	unscreened	-	4323_4:145041707-145041707 C>A_SEIVSISALSTTDVAMHTSTSSSVT
3:140401686-140401686 C>T	0.0	4323	RECTAL	-	-	ID=COSM205386;OCCURENCE=1(large_intestine)	-	TRIM42	uc003eto.2,p.R242C|ENST00000286349,p.R242C|NM_152616,p.R242C	protein_coding	uc003eto.2	nonsynonymous SNV	exon2	c.C724T	p.R242C	DRSSGPILCQVCRNKRIAYKRCITC	DRSSGPILCQVCCNKRIAYKRCITC	1.0	2.0	unscreened	-	4323_3:140401686-140401686 C>T_DRSSGPILCQVCCNKRIAYKRCITC
4:73013516-73013516 G>T	0.0	4323	RECTAL	-	-	-	-	NPFFR2	ENST00000308744,p.S519I|NM_053036,p.S417I|NM_001144756,p.S420I|ENST00000358749,p.S417I|uc003hgi.2,p.S420I|uc003hgg.2,p.S519I|ENST00000395999,p.S420I|NM_004885,p.S519I|uc010iig.2,p.S301I|uc003hgh.2,p.S417I	protein_coding, processed_transcript	uc010iig.2	nonsynonymous SNV	exon3	c.G902T	p.S301I	ELVMEELKETTNSSEI	ELVMEELKETTNISEI	1.0	7.0	-	-	4323_4:73013516-73013516 G>T_ELVMEELKETTNISEI
16:76555977-76555977 C>T	0.0	4323	RECTAL	-	-	-	-	CNTNAP4	ENST00000307431,p.P859S|NM_138994,p.P787S|uc002fex.1,p.P863S|ENST00000478060,p.P787S|uc002fev.1,p.P724S|ENST00000377504,p.P811S|uc010chb.1,p.P787S|ENST00000476707,p.P863S	retained_intron, protein_coding, processed_transcript, TEC	uc010chb.1	nonsynonymous SNV	exon16	c.C2359T	p.P787S	TVVTFSFDVGNGPFEISVQSPTHFN	TVVTFSFDVGNGSFEISVQSPTHFN	1.0	5.0	-	-	4323_16:76555977-76555977 C>T_TVVTFSFDVGNGSFEISVQSPTHFN
1:94544989-94544989 G>T	0.0	4323	RECTAL	-	-	-	-	ABCA4	NM_000350,p.S376R|ENST00000370225,p.S376R|ENST00000535735,p.S376R|uc001dqh.3,p.S376R|uc010otn.1,p.S376R	protein_coding, processed_transcript	uc010otn.1	nonsynonymous SNV	exon9	c.C1128A	p.S376R	RRTTSFCNALIQSLESNPLTKIAWR	RRTTSFCNALIQRLESNPLTKIAWR	4.0	8.0	-	-	4323_1:94544989-94544989 G>T_RRTTSFCNALIQRLESNPLTKIAWR
20:57430266-57430266 G>T	0.0	4323	RECTAL	-	-	-	1	GNAS	ENST00000371099,p.R649L|ENST00000349036,p.R22L|uc002xzw.3,p.R649L|ENST00000371100,p.R649L|NM_080425,p.R649L|ENST00000371102,p.R649L	retained_intron, protein_coding, processed_transcript	uc002xzw.3	nonsynonymous SNV	exon1	c.G1946T	p.R649L	KKVPLAEKRRQMRKEALEKRAQKRA	KKVPLAEKRRQMLKEALEKRAQKRA	10.0	6.0	-	-	4323_20:57430266-57430266 G>T_KKVPLAEKRRQMLKEALEKRAQKRA
13:46154078-46154078 ->T	0.0	4323	RECTAL	-	-	-	-	ERICH6B	ENST00000298738,p.K317fs|NM_182542,p.K317fs|uc001vam.1,p.K317fs|uc001val.2,p.K317fs	retained_intron, protein_coding, processed_transcript	uc001vam.1	frameshift insertion	exon6	c.950dupA	p.K317fs	PEEHVNTKVQQKKEENVLEFASKEN	PEEHVNTKVQQKKGRKCPGVCF	1.0	4.0	-	-	4323_13:46154078-46154078 ->T_PEEHVNTKVQQKKGRKCPGVCF
5:13810262-13810262 C>A	0.0	4323	RECTAL	-	-	-	-	DNAH5	ENST00000265104,p.E2505D|uc003jfd.2,p.E2505D|NM_001369,p.E2505D	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon45	c.G7515T	p.E2505D	GAALELDGRRRLELWLRSRPTGTLE	GAALELDGRRRLDLWLRSRPTGTLE	5.0	9.0	-	-	4323_5:13810262-13810262 C>A_GAALELDGRRRLDLWLRSRPTGTLE
8:101154235-101154235 A>T	0.0	4323	RECTAL	-	-	-	-	FBXO43	NM_001029860,p.S83T|ENST00000428847,p.S83T|uc003yje.3,p.S49T|uc003yjd.3,p.S83T|uc010mbp.2,p.S83T	retained_intron, protein_coding, nonsense_mediated_decay	uc010mbp.2	nonsynonymous SNV	exon2	c.T247A	p.S83T	SSFQDSGYNELKSCSFDNIDKEYLG	SSFQDSGYNELKTCSFDNIDKEYLG	3.0	8.0	-	-	4323_8:101154235-101154235 A>T_SSFQDSGYNELKTCSFDNIDKEYLG
4:145041708-145041708 T>C	0.0	4323	RECTAL	0.4	rs7687256	ID=COSM3683234;OCCURENCE=2(thyroid)	-	GYPA	uc010ioq.3,p.E24G|uc010ios.2,p.E24G|uc003ijp.4,p.E24G|ENST00000504786,p.E24G|NM_002099,p.E24G|ENST00000503627,p.E24G|uc031shj.1,p.E24G|uc003ijo.4,p.E24G|uc003ijn.2,p.E24G|ENST00000360771,p.E24G|ENST00000512064,p.E24G	retained_intron, protein_coding, nonsense_mediated_decay	uc031shj.1	nonsynonymous SNV	exon2	c.A71G	p.E24G	SEIVSISALSTTEVAMHTSTSSSVT	SEIVSISALSTTGVAMHTSTSSSVT	1.0	1.0	unscreened	-	4323_4:145041708-145041708 T>C_SEIVSISALSTTGVAMHTSTSSSVT
19:13050046-13050046 A>C	1.0	4323	RECTAL	-	-	-	1	CALR	ENST00000588454,p.K64Q	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000588454	nonsynonymous SNV	exon2	c.A190C	p.K64Q	SSGKFYGDEEKDKGPDICGPGTKKV	SSGKFYGDEEKDQGPDICGPGTKKV	10.0	10.0	unscreened	-	4323_19:13050046-13050046 A>C_SSGKFYGDEEKDQGPDICGPGTKKV
19:37879855-37879855 ->GCA	1.0	4323	RECTAL	-	-	-	-	ZNF527	uc002ogf.3,p.Y270delinsCN|NM_032453,p.Y302delinsCN|ENST00000436120,p.Y302delinsCN|uc010efk.1,p.Y302delinsCN	protein_coding, processed_transcript, nonsense_mediated_decay	uc010efk.1	nonframeshift insertion	exon5	c.904_905insGCA	p.Y302delinsCN	TQPQRIHSGEKPYACNDCGKAFSHD	TQPQRIHSGEKPCNACNDCGKAFSH	5.0	1.0	unscreened	-	4323_19:37879855-37879855 ->GCA_TQPQRIHSGEKPCNACNDCGKAFSH
18:44773071-44773071 G>T	0.0	4323	RECTAL	-	-	-	-	SKOR2	NM_001278063,p.D828E|ENST00000425639,p.D828E|uc031rif.1,p.D828E	protein_coding	uc031rif.1	nonsynonymous SNV	exon1	c.C2484A	p.D828E	SSRLLQEDGKLGDPGSDLPPPPPPP	SSRLLQEDGKLGEPGSDLPPPPPPP	1.0	10.0	-	-	4323_18:44773071-44773071 G>T_SSRLLQEDGKLGEPGSDLPPPPPPP
5:115387199-115387199 G>A	0.0	4323	RECTAL	-	-	-	-	ARL14EPL	NM_001195581,p.E13K|uc021yct.1,p.E13K|ENST00000601302,p.E13K	protein_coding	uc021yct.1	nonsynonymous SNV	exon1	c.G37A	p.E13K	MNEQSEKNNSIQERHTDHSFPEKNC	MNEQSEKNNSIQKRHTDHSFPEKNC	1.0	10.0	-	-	4323_5:115387199-115387199 G>A_MNEQSEKNNSIQKRHTDHSFPEKNC
19:53793083-53793083 C>T	0.0	4323	RECTAL	0.0041	-	-	-	BIRC8	NM_033341,p.R182H|uc002qbk.3,p.R182H|ENST00000426466,p.R182H	protein_coding	uc002qbk.3	nonsynonymous SNV	exon1	c.G545A	p.R182H	LQREISPEEPLRRLQEEKLCKICMD	LQREISPEEPLRHLQEEKLCKICMD	1.0	9.0	-	-	4323_19:53793083-53793083 C>T_LQREISPEEPLRHLQEEKLCKICMD
4:101109171-101109171 T>A	1.0	4323	RECTAL	-	-	-	-	DDIT4L	uc003hvq.3,p.E82V|ENST00000273990,p.E82V|ENST00000502763,p.E82V|ENST00000513992,p.E82V|NM_145244,p.E82V	protein_coding	uc003hvq.3	nonsynonymous SNV	exon3	c.A245T	p.E82V	QTKLGCSKVLVPEKLTQRIAQDVLR	QTKLGCSKVLVPVKLTQRIAQDVLR	4.0	3.0	-	-	4323_4:101109171-101109171 T>A_QTKLGCSKVLVPVKLTQRIAQDVLR
12:53071201-53071201 G>A	0.0	4323	RECTAL	-	-	ID=COSM431357;OCCURENCE=1(breast)	-	KRT1	ENST00000252244,p.R343C|uc001sav.1,p.R343C|uc001sau.1,p.R343C|NM_006121,p.R343C	retained_intron, protein_coding	uc001sav.1	nonsynonymous SNV	exon5	c.C1027T	p.R343C	SETNVILSMDNNRSLDLDSIIAEVK	SETNVILSMDNNCSLDLDSIIAEVK	4.0	6.0	-	-	4323_12:53071201-53071201 G>A_SETNVILSMDNNCSLDLDSIIAEVK
2:133489544-133489544 G>A	0.0	4323	RECTAL	-	-	-	-	NCKAP5	uc002ttq.3,p.R418C|ENST00000405974,p.R418C|NM_207481,p.R418C|ENST00000317721,p.R1737C|NM_207363,p.R1737C|ENST00000409261,p.R1737C|uc002ttp.3,p.R1737C|ENST00000409213,p.R418C	protein_coding, processed_transcript	uc002ttq.3	nonsynonymous SNV	exon15	c.C1252T	p.R418C	FPLPDSGNRSTGRYLCQPDSPEDAE	FPLPDSGNRSTGCYLCQPDSPEDAE	5.0	8.0	-	-	4323_2:133489544-133489544 G>A_FPLPDSGNRSTGCYLCQPDSPEDAE
13:96293680-96293680 C>G	0.0	4323	RECTAL	-	-	-	-	DZIP1	ENST00000361156,p.G156R|uc001vml.4,p.G156R|uc001vmk.4,p.G156R|ENST00000347108,p.G156R|ENST00000376829,p.G156R|NM_014934,p.G156R|NM_198968,p.G156R|ENST00000361396,p.G156R|ENST00000466569,p.G202R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001vml.4	nonsynonymous SNV	exon5	c.G466C	p.G156R	TLEERLRLSHCDGEQSKKLLTKQAG	TLEERLRLSHCDREQSKKLLTKQAG	4.0	9.0	-	-	4323_13:96293680-96293680 C>G_TLEERLRLSHCDREQSKKLLTKQAG
8:143784773-143784773 G>A	0.0	4323	RECTAL	-	-	-	-	LY6K	NM_017527,p.G161D|ENST00000561179,p.G219D|ENST00000292430,p.G161D|uc011ljv.2,p.G161D	protein_coding, processed_transcript	uc011ljv.2	nonsynonymous SNV	exon3	c.G482A	p.G161D	LAILLLLASIAAGLSLS	LAILLLLASIAADLSLS	1.0	8.0	-	-	4323_8:143784773-143784773 G>A_LAILLLLASIAADLSLS
12:11546677-11546677 C>T	0.0	4323	RECTAL	-	rs201144571	-	-	PRB2	ENST00000389362,p.R112Q|uc010shk.1,p.R112Q|NM_006248,p.R112Q	protein_coding, processed_transcript	uc010shk.1	nonsynonymous SNV	exon3	c.G335A	p.R112Q	GPPPQGDKSRSPRSPPGKPQGPPPQ	GPPPQGDKSRSPQSPPGKPQGPPPQ	2.0	1.0	unscreened	-	4323_12:11546677-11546677 C>T_GPPPQGDKSRSPQSPPGKPQGPPPQ
8:113326264-113326264 G>T	0.0	4323	RECTAL	-	-	-	2	CSMD3	NM_052900,p.P2419T|ENST00000352409,p.P2453T|ENST00000343508,p.P2483T|uc003ynw.1,p.P234T|uc011lhx.2,p.P2419T|uc003yns.3,p.P1725T|uc003ynt.3,p.P2483T|NM_198123,p.P2523T|NM_198124,p.P2483T|uc003ynu.3,p.P2523T|ENST00000455883,p.P2419T|ENST00000297405,p.P2523T|ENST00000339701,p.P1793T	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon48	c.C7255A	p.P2419T	VLQVYDGPNIQSPVLISLSGDYSSA	VLQVYDGPNIQSTVLISLSGDYSSA	1.0	2.0	-	-	4323_8:113326264-113326264 G>T_VLQVYDGPNIQSTVLISLSGDYSSA
1:152648744-152648744 C>T	0.0	4323	RECTAL	-	-	ID=COSM245411;OCCURENCE=1(large_intestine),1(prostate)	-	LCE2C	ENST00000368783,p.R85W|NM_178429,p.R85W|uc001fah.4,p.R85W|uc021ozc.1,p.R85W	protein_coding	uc021ozc.1	nonsynonymous SNV	exon1	c.C253T	p.R85W	LSHHRPRLFHRRRHQSPDCCESEPS	LSHHRPRLFHRRWHQSPDCCESEPS	1.0	8.0	-	-	4323_1:152648744-152648744 C>T_LSHHRPRLFHRRWHQSPDCCESEPS
16:20043472-20043472 A>C	0.0	4323	RECTAL	-	-	-	-	GPR139	uc002dgu.1,p.F216C|uc010vaw.1,p.F123C|NM_001002911,p.F216C|ENST00000570682,p.F216C	protein_coding, nonsense_mediated_decay	uc010vaw.1	nonsynonymous SNV	exon3	c.T368G	p.F123C	SIIVYKLRRKSNFRLRGYSTGKTTA	SIIVYKLRRKSNCRLRGYSTGKTTA	1.0	5.0	-	-	4323_16:20043472-20043472 A>C_SIIVYKLRRKSNCRLRGYSTGKTTA
3:74334501-74334501 C>T	0.0	4323	RECTAL	-	-	-	-	CNTN3	NM_020872,p.A887T|uc003dpm.1,p.A887T|ENST00000263665,p.A887T	protein_coding, processed_transcript	uc003dpm.1	nonsynonymous SNV	exon19	c.G2659A	p.A887T	YYTAVRAYNSAGAGPFSATVNVTTK	YYTAVRAYNSAGTGPFSATVNVTTK	3.0	7.0	-	-	4323_3:74334501-74334501 C>T_YYTAVRAYNSAGTGPFSATVNVTTK
2:186665402-186665402 T>A	0.0	4323	RECTAL	-	-	-	-	FSIP2	ENST00000424728,p.L3790H|ENST00000343098,p.L3879H|NM_173651,p.L3879H|uc002upl.3,p.L3879H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.T11636A	p.L3879H	SVSEETSAEECQLLKMLQSVEDGKS	SVSEETSAEECQHLKMLQSVEDGKS	1.0	7.0	-	-	4323_2:186665402-186665402 T>A_SVSEETSAEECQHLKMLQSVEDGKS
7:100174616-100174616 C>G	1.0	4323	RECTAL	-	-	-	-	LRCH4	uc003uvj.3,p.K459N|NM_001289934,p.K459N|ENST00000310300,p.K459N|NM_002319,p.K459N	retained_intron, protein_coding	uc003uvj.3	nonsynonymous SNV	exon13	c.G1377C	p.K459N	AVSTQAMHNGSPKSSASQAGAAAGQ	AVSTQAMHNGSPNSSASQAGAAAGQ	9.0	4.0	-	-	4323_7:100174616-100174616 C>G_AVSTQAMHNGSPNSSASQAGAAAGQ
9:33550559-33550559 A>C	0.0	4323	RECTAL	-	-	-	-	ANKRD18B	ENST00000357927,p.L52F|ENST00000290943,p.L671F|NM_001244752,p.L670F|uc010mjw.2,p.L670F	retained_intron, protein_coding, processed_transcript	uc010mjw.2	nonsynonymous SNV	exon10	c.A2010C	p.L670F	INLDETWTSKKKLFQVEIQPEEKHE	INLDETWTSKKKFFQVEIQPEEKHE	2.0	2.0	-	-	4323_9:33550559-33550559 A>C_INLDETWTSKKKFFQVEIQPEEKHE
7:127991395-127991395 C>T	0.0	4323	RECTAL	-	-	-	-	PRRT4	ENST00000446477,p.E739K|NM_001174164,p.E739K|ENST00000435512,p.E533K|ENST00000535159,p.E739K|uc022aky.1,p.E739K	protein_coding	uc022aky.1	nonsynonymous SNV	exon6	c.G2215A	p.E739K	NLRRSIEEALCSEALLAPGLFQGPA	NLRRSIEEALCSKALLAPGLFQGPA	1.0	7.0	-	-	4323_7:127991395-127991395 C>T_NLRRSIEEALCSKALLAPGLFQGPA
12:129189890-129189890 G>A	0.0	4323	RECTAL	-	-	-	-	TMEM132C	uc021rgn.1,p.G793S|ENST00000537538,p.G178S|ENST00000315208,p.G409S|NM_001136103,p.G793S|ENST00000435159,p.G793S	protein_coding	uc021rgn.1	nonsynonymous SNV	exon9	c.G2377A	p.G793S	KSKRKSILAVGVGNVRVKFGQNDAD	KSKRKSILAVGVSNVRVKFGQNDAD	1.0	3.0	-	-	4323_12:129189890-129189890 G>A_KSKRKSILAVGVSNVRVKFGQNDAD
1:152325639-152325639 T>A	0.0	4323	RECTAL	-	-	-	-	FLG2	uc001ezw.4,p.R1541S|NM_001014342,p.R1541S|ENST00000388718,p.R1541S	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.A4623T	p.R1541S	HGESESIIHDRHRITHGQTGDTTRH	HGESESIIHDRHSITHGQTGDTTRH	1.0	7.0	-	-	4323_1:152325639-152325639 T>A_HGESESIIHDRHSITHGQTGDTTRH
10:45959766-45959766 G>A	1.0	4323	RECTAL	-	-	-	-	MARCH8	uc001jch.2,p.P55S|ENST00000453424,p.P55S|uc001jcj.1,p.P55S|NM_001002266,p.P55S|ENST00000453980,p.P55S|ENST00000395771,p.P55S|ENST00000319836,p.P55S|NM_145021,p.P55S|NM_001282866,p.P55S|uc001jck.1,p.P55S|uc001jci.1,p.P55S|ENST00000395769,p.P55S	protein_coding, processed_transcript	uc001jck.1	nonsynonymous SNV	exon4	c.C163T	p.P55S	MSHSSNISKAGSPPSASAPAPVSSF	MSHSSNISKAGSSPSASAPAPVSSF	7.0	4.0	-	-	4323_10:45959766-45959766 G>A_MSHSSNISKAGSSPSASAPAPVSSF
3:77651640-77651640 A>C	0.0	4323	RECTAL	-	-	-	2	ROBO2	uc011bgj.3,p.N452T|uc021xat.1,p.N1061T|NM_001290040,p.N1049T|ENST00000461745,p.N1045T|ENST00000487694,p.N1061T|NM_002942,p.N1045T|NM_001290065,p.N452T|uc011bgk.2,p.N1049T|NM_001290039,p.N1049T|ENST00000332191,p.N1045T|uc003dqa.3,p.N172T|uc003dpz.3,p.N1049T|uc003dpy.4,p.N1045T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xat.1	nonsynonymous SNV	exon20	c.A3182C	p.N1061T	FGYSLPDQNKGNNGGKGGKKKKNKN	FGYSLPDQNKGNTGGKGGKKKKNKN	4.0	8.0	-	-	4323_3:77651640-77651640 A>C_FGYSLPDQNKGNTGGKGGKKKKNKN
6:75799877-75799877 G>A	0.0	4323	RECTAL	-	-	-	-	COL12A1	ENST00000483888,p.R2960W|uc021zbv.1,p.R2964W|ENST00000345356,p.R1800W|ENST00000322507,p.R2964W|uc003phs.3,p.R2964W|ENST00000425443,p.R602W|NM_080645,p.R1800W|uc021zbw.1,p.R1800W|NM_004370,p.R2964W|ENST00000416123,p.R2888W|uc003pht.3,p.R1800W	retained_intron, protein_coding, processed_transcript	uc021zbw.1	nonsynonymous SNV	exon47	c.C5398T	p.R1800W	SAGARGEPGPGGRPGFPGTPGMQGP	SAGARGEPGPGGWPGFPGTPGMQGP	6.0	5.0	-	-	4323_6:75799877-75799877 G>A_SAGARGEPGPGGWPGFPGTPGMQGP
12:97078985-97078985 C>A	0.0	4323	RECTAL	-	-	-	-	CDK17,NEDD1	ENST00000524981,p.Q446K|uc021rcc.1,p.Q420K	-	uc021rcc.1	nonsynonymous SNV	exon9	c.C1258A	p.Q420K	EFLSRVGIWGCLQGAVISAKIAQFI	EFLSRVGIWGCLKGAVISAKIAQFI	1.0	6.0	-	-	4323_12:97078985-97078985 C>A_EFLSRVGIWGCLKGAVISAKIAQFI
1:49005335-49005335 G>A	0.0	4323	RECTAL	-	-	-	-	AGBL4	uc010omw.1,p.A181V|ENST00000334103,p.A181V|uc010omx.1,p.A460V	protein_coding, processed_transcript	uc010omx.1	nonsynonymous SNV	exon12	c.C1379T	p.A460V	DYYRLNPVVEKVAIPMPRLRKEKSP	DYYRLNPVVEKVVIPMPRLRKEKSP	4.0	5.0	-	-	4323_1:49005335-49005335 G>A_DYYRLNPVVEKVVIPMPRLRKEKSP
20:57430266-57430266 G>T	0.0	4323	RECTAL	-	-	-	1	GNAS	ENST00000306120,p.A586S|NM_001077490,p.A587S	retained_intron, protein_coding, processed_transcript	NM_001077490	nonsynonymous SNV	exon1	c.G1759T	p.A587S	RRYPWRRSADRCAKKPWRSGPRSAQ	RRYPWRRSADRCSKKPWRSGPRSAQ	10.0	6.0	-	-	4323_20:57430266-57430266 G>T_RRYPWRRSADRCSKKPWRSGPRSAQ
1:48860999-48860999 T>G	1.0	4323	RECTAL	-	-	-	-	SPATA6	uc010omv.2,p.T256P|ENST00000371843,p.T270P|ENST00000396199,p.T198P|ENST00000371841,p.T111P|ENST00000371847,p.T270P|ENST00000603831,p.T117P|NM_019073,p.T270P|NM_001286239,p.T256P|NM_001286238,p.T270P|uc001crs.2,p.T270P|uc001crr.2,p.T270P	protein_coding, processed_transcript	uc010omv.2	nonsynonymous SNV	exon7	c.A766C	p.T256P	IRHVDPPSPRADTLLGSSGRDCERD	IRHVDPPSPRADPLLGSSGRDCERD	7.0	4.0	-	-	4323_1:48860999-48860999 T>G_IRHVDPPSPRADPLLGSSGRDCERD
7:127991395-127991395 C>T	0.0	4323	RECTAL	-	-	-	-	PRRT4	uc022akx.1,p.R394Q|ENST00000489835,p.R394Q|NM_001114726,p.R394Q	protein_coding	uc022akx.1	nonsynonymous SNV	exon6	c.G1181A	p.R394Q	QPATQHRGGPLQRGPACAWPLPGPC	QPATQHRGGPLQQGPACAWPLPGPC	1.0	7.0	-	-	4323_7:127991395-127991395 C>T_QPATQHRGGPLQQGPACAWPLPGPC
1:49005335-49005335 G>A	0.0	4323	RECTAL	-	-	-	-	AGBL4	NM_032785,p.A448V|uc001cru.2,p.A448V|ENST00000371839,p.A448V	protein_coding, processed_transcript	uc001cru.2	nonsynonymous SNV	exon12	c.C1343T	p.A448V	DYYRLNPVVEKVAIPMPRLRNKEIE	DYYRLNPVVEKVVIPMPRLRNKEIE	4.0	5.0	-	-	4323_1:49005335-49005335 G>A_DYYRLNPVVEKVVIPMPRLRNKEIE
1:4832585-4832585 G>A	0.0	4323	RECTAL	-	-	-	-	AJAP1	NM_001042478,p.R388Q|ENST00000378191,p.R388Q|NM_018836,p.R388Q|uc001aln.3,p.R388Q|uc001alm.1,p.R388Q|ENST00000378190,p.R388Q	protein_coding, processed_transcript	uc001aln.3	nonsynonymous SNV	exon4	c.G1163A	p.R388Q	TTGEYKSTFNGNRPSSSDRHLIPVA	TTGEYKSTFNGNQPSSSDRHLIPVA	2.0	3.0	-	-	4323_1:4832585-4832585 G>A_TTGEYKSTFNGNQPSSSDRHLIPVA
16:31160524-31160524 C>T	0.0	4323	RECTAL	-	-	ID=COSM3387398;OCCURENCE=1(pancreas)	-	PRSS36	NM_001258290,p.V48M|ENST00000569305,p.V48M|NM_001258291,p.V48M|ENST00000268281,p.V48M|ENST00000418068,p.V48M|uc002ebd.4,p.V48M|NM_173502,p.V48M|uc010vfh.3,p.V48M|uc010vfg.3,p.V48M	retained_intron, protein_coding, nonsense_mediated_decay	uc010vfh.3	nonsynonymous SNV	exon4	c.G142A	p.V48M	LDCGRPEPSARIVGGSNAQPGTWPW	LDCGRPEPSARIMGGSNAQPGTWPW	4.0	4.0	-	-	4323_16:31160524-31160524 C>T_LDCGRPEPSARIMGGSNAQPGTWPW
X:153735813-153735813 C>T	1.0	4324	COLON	-	-	-	-	FAM3A	ENST00000434658,p.D115N|uc011mzp.2,p.D115N|NM_001171134,p.D115N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mzp.2	nonsynonymous SNV	exon6	c.G343A	p.D115N	RGLNIALVNDVNDLLKFIRPLHEGT	RGLNIALVNDVNNLLKFIRPLHEGT	8.0	4.0	-	-	4324_X:153735813-153735813 C>T_RGLNIALVNDVNNLLKFIRPLHEGT
2:109109067-109109067 C>T	1.0	4324	COLON	-	-	-	-	GCC2	ENST00000309863,p.S1423F|uc002tec.3,p.S1423F|uc002ted.3,p.S1322F|NM_181453,p.S1423F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ted.3	nonsynonymous SNV	exon18	c.C3965T	p.S1322F	LCSIQSENMMMKSEHTQTVSQLTSQ	LCSIQSENMMMKFEHTQTVSQLTSQ	9.0	7.0	-	-	4324_2:109109067-109109067 C>T_LCSIQSENMMMKFEHTQTVSQLTSQ
6:158499229-158499229 A>G	1.0	4324	COLON	-	-	-	-	SYNJ2	ENST00000355585,p.D828G|NM_003898,p.D828G|uc003qqz.2,p.D445G|NM_001178088,p.D591G|uc003qqx.2,p.D828G|uc003qra.2,p.D171G|ENST00000367121,p.D828G|uc003qqy.2,p.D591G|uc003qqw.2,p.D828G|ENST00000367122,p.D828G	protein_coding, nonsense_mediated_decay	uc003qra.2	nonsynonymous SNV	exon5	c.A512G	p.D171G	TAGELNLLDSDLDVDTKVRHTWSPG	TAGELNLLDSDLGVDTKVRHTWSPG	7.0	9.0	-	-	4324_6:158499229-158499229 A>G_TAGELNLLDSDLGVDTKVRHTWSPG
10:32760056-32760056 A>G	1.0	4324	COLON	-	-	-	-	CCDC7	uc001iwj.3,p.N192S|NM_145023,p.N192S|ENST00000277657,p.N192S|ENST00000476558,p.N192S|ENST00000362006,p.N192S|uc001iwk.3,p.N192S|NM_001026383,p.N192S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001iwk.3	nonsynonymous SNV	exon7	c.A575G	p.N192S	AEPPKPDKTVILNIAEIVRLVQRFE	AEPPKPDKTVILSIAEIVRLVQRFE	8.0	8.0	-	-	4324_10:32760056-32760056 A>G_AEPPKPDKTVILSIAEIVRLVQRFE
12:56744892-56744892 C>A	1.0	4324	COLON	-	-	-	-	STAT2	ENST00000418572,p.V338F|NM_198332,p.V338F|NM_005419,p.V342F|ENST00000314128,p.V342F|uc001sld.3,p.V338F|uc010sqn.2,p.V338F|ENST00000557235,p.V338F|uc001slc.3,p.V342F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sqn.2	nonsynonymous SNV	exon10	c.G1012T	p.V338F	RPLILKTGSKFTVRTRLLVRLQEGN	RPLILKTGSKFTFRTRLLVRLQEGN	9.0	2.0	-	-	4324_12:56744892-56744892 C>A_RPLILKTGSKFTFRTRLLVRLQEGN
20:8755221-8755221 C>T	1.0	4324	COLON	-	-	ID=COSM241158;OCCURENCE=1(prostate)	-	PLCB1	uc002wnd.1,p.T566M|uc010zrb.1,p.T888M|ENST00000338037,p.T989M|NM_182734,p.T989M|uc002wna.4,p.T989M|NM_015192,p.T989M|ENST00000378641,p.T989M|ENST00000378637,p.T989M|uc002wnc.1,p.T888M|uc002wnb.4,p.T989M	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zrb.1	nonsynonymous SNV	exon27	c.C2663T	p.T888M	KSEPSSPDHGSSTIEQDLAALDAEM	KSEPSSPDHGSSMIEQDLAALDAEM	9.0	2.0	-	-	4324_20:8755221-8755221 C>T_KSEPSSPDHGSSMIEQDLAALDAEM
2:217293331-217293331 G>A	1.0	4324	COLON	-	-	ID=COSM1016236;OCCURENCE=1(endometrium)	-	SMARCAL1	NM_001127207,p.R387H|ENST00000392128,p.R251H|ENST00000358207,p.R387H|ENST00000412913,p.R107H|uc002vgd.4,p.R387H|uc010fvg.3,p.R387H|NM_014140,p.R387H|ENST00000357276,p.R387H|uc002vgc.4,p.R387H	retained_intron, protein_coding, processed_transcript	uc010fvg.3	nonsynonymous SNV	exon5	c.G1160A	p.R387H	LLEEHSKLIAKVRCLPQVQLDPLPT	LLEEHSKLIAKVHCLPQVQLDPLPT	9.0	8.0	-	-	4324_2:217293331-217293331 G>A_LLEEHSKLIAKVHCLPQVQLDPLPT
3:125216703-125216703 T>G	1.0	4324	COLON	-	-	-	-	SNX4	ENST00000465505,p.K128T|ENST00000251775,p.K175T|ENST00000536067,p.K30T|uc003eib.4,p.K175T|uc011bkf.3,p.K30T|NM_003794,p.K175T	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bkf.3	nonsynonymous SNV	exon3	c.A89C	p.K30T	LRIASHPILCRDKIFYLFLTQEGNW	LRIASHPILCRDTIFYLFLTQEGNW	9.0	8.0	-	-	4324_3:125216703-125216703 T>G_LRIASHPILCRDTIFYLFLTQEGNW
3:113441753-113441753 A>C	1.0	4324	COLON	-	-	-	-	NAA50	uc010hqm.2,p.L37R|ENST00000493454,p.L37R|ENST00000240922,p.L111R|ENST00000477813,p.L71R|uc011bij.2,p.L37R|ENST00000493900,p.L110R|NM_025146,p.L111R|uc003ean.2,p.L111R|ENST00000497525,p.L37R	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bij.2	nonsynonymous SNV	exon4	c.T110G	p.L37R	ICEKDGTFDNIYLHVQISNESAIDF	ICEKDGTFDNIYRHVQISNESAIDF	9.0	6.0	-	-	4324_3:113441753-113441753 A>C_ICEKDGTFDNIYRHVQISNESAIDF
14:105208188-105208188 C>T	1.0	4324	COLON	-	-	-	-	ADSSL1	ENST00000332972,p.T309I|NM_152328,p.T266I|uc001ype.3,p.T309I|ENST00000330877,p.T266I|uc001ypd.3,p.T266I|NM_199165,p.T309I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ype.3	nonsynonymous SNV	exon9	c.C926T	p.T309I	GANAALLDIDFGTYPFVTSSNCTVG	GANAALLDIDFGIYPFVTSSNCTVG	6.0	8.0	-	-	4324_14:105208188-105208188 C>T_GANAALLDIDFGIYPFVTSSNCTVG
12:53448174-53448174 C>A	1.0	4324	COLON	-	-	-	-	TENC1	ENST00000314250,p.H157Q|uc001sbm.3,p.H167Q|NM_198316,p.H33Q|ENST00000546602,p.H157Q|uc001sbp.3,p.H157Q|NM_170754,p.H157Q|ENST00000552570,p.H157Q|uc001sbo.1,p.H157Q|uc001sbl.3,p.H33Q|ENST00000314276,p.H167Q|uc001sbn.3,p.H167Q|NM_015319,p.H167Q|ENST00000549700,p.H157Q|ENST00000379902,p.H33Q|ENST00000451358,p.H157Q	retained_intron, protein_coding, nonsense_mediated_decay	uc001sbp.3	nonsynonymous SNV	exon7	c.C471A	p.H157Q	FPARPDEQRHRGHLRELAHVLQSKH	FPARPDEQRHRGQLRELAHVLQSKH	8.0	1.0	-	-	4324_12:53448174-53448174 C>A_FPARPDEQRHRGQLRELAHVLQSKH
10:888980-888980 T>C	1.0	4324	COLON	-	-	-	2	LARP4B	ENST00000316157,p.I180V|NM_015155,p.I180V|uc031ptb.1,p.I180V	protein_coding, processed_transcript	uc031ptb.1	nonsynonymous SNV	exon7	c.A538G	p.I180V	LSRENLASDMYLISQMDSDQYVPIT	LSRENLASDMYLVSQMDSDQYVPIT	9.0	8.0	-	-	4324_10:888980-888980 T>C_LSRENLASDMYLVSQMDSDQYVPIT
6:41712239-41712239 C>A	0.0	4324	COLON	-	-	-	-	PGC	uc021yzm.1,p.G75V|NM_002630,p.G75V|ENST00000425343,p.G75V|uc003ora.2,p.G75V|NM_001166424,p.G75V|ENST00000373025,p.G75V	protein_coding	uc021yzm.1	nonsynonymous SNV	exon3	c.G224T	p.G75V	YEPMAYMDAAYFGEISIGTPPQNFL	YEPMAYMDAAYFVEISIGTPPQNFL	7.0	2.0	-	-	4324_6:41712239-41712239 C>A_YEPMAYMDAAYFVEISIGTPPQNFL
1:19467874-19467874 C>G	1.0	4324	COLON	-	-	-	-	UBR4	ENST00000417040,p.A1540P|ENST00000375217,p.A2847P|uc001bbk.1,p.A501P|ENST00000425413,p.A462P|ENST00000375226,p.A2830P	protein_coding, processed_transcript	uc001bbk.1	nonsynonymous SNV	exon11	c.G1501C	p.A501P	PPDADDETMVELAIALSLQQDQQAP	PPDADDETMVELPIALSLQQDQQAP	10.0	7.0	-	-	4324_1:19467874-19467874 C>G_PPDADDETMVELPIALSLQQDQQAP
1:19467874-19467874 C>G	1.0	4324	COLON	-	-	-	-	UBR4	NM_020765,p.A2819P|uc001bbi.3,p.A2819P|ENST00000375254,p.A2819P|ENST00000375267,p.A2819P	protein_coding, processed_transcript	uc001bbi.3	nonsynonymous SNV	exon57	c.G8455C	p.A2819P	PPDADDETMVELAIALSLQQDQQGS	PPDADDETMVELPIALSLQQDQQGS	10.0	7.0	-	-	4324_1:19467874-19467874 C>G_PPDADDETMVELPIALSLQQDQQGS
19:58453536-58453536 C>T	1.0	4324	COLON	-	-	-	-	ZNF256	uc010euj.3,p.G61R|NM_005773,p.G214R|uc002qqu.3,p.G214R|ENST00000282308,p.G214R	protein_coding	uc010euj.3	nonsynonymous SNV	exon2	c.G181A	p.G61R	VAFHSVKNHYNWGECVKAFSYKHVR	VAFHSVKNHYNWRECVKAFSYKHVR	6.0	6.0	-	-	4324_19:58453536-58453536 C>T_VAFHSVKNHYNWRECVKAFSYKHVR
4:187549653-187549654 GG>-	1.0	4324	COLON	-	-	-	1	FAT1	uc003izf.3,p.T1529fs|NM_005245,p.T1529fs|ENST00000441802,p.T1529fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003izf.3	frameshift deletion	exon8	c.4587_4588del	p.T1529fs	SEKLDHEAVHQHTLTVMVRDQDVPV	SEKLDHEAVHQHTHGHGTRSRCACKTQLCKDCGQCQRHE	10.0	5.0	-	-	4324_4:187549653-187549654 GG>-_SEKLDHEAVHQHTHGHGTRSRCACKTQLCKDCGQCQRHE
20:62701135-62701135 G>A	1.0	4324	COLON	-	-	-	-	TCEA2	ENST00000343484,p.G160S|ENST00000395053,p.G160S|uc021wgp.1,p.G133S|ENST00000458442,p.G133S|uc021wgq.1,p.G160S|ENST00000440819,p.G133S|ENST00000361317,p.G133S|ENST00000339217,p.G133S|NM_003195,p.G160S|NM_198723,p.G133S	protein_coding, processed_transcript	uc021wgq.1	nonsynonymous SNV	exon6	c.G478A	p.G160S	AALQTDHDHVAIGADCERLSAQIEE	AALQTDHDHVAISADCERLSAQIEE	6.0	10.0	-	-	4324_20:62701135-62701135 G>A_AALQTDHDHVAISADCERLSAQIEE
17:7578217-7578217 G>A	1.0	4324	COLON	-	-	ID=COSM1386678,COSM43939,COSM1386677,COSM1386679,COSM3403266,COSM1386676,COSM2744750;OCCURENCE=1(skin),3(large_intestine),4(central_nervous_system),1(stomach),1(haematopoietic_and_lymphoid_tissue)	1	TP53	NM_001276761,p.T172I|NM_000546,p.T211I|ENST00000514944,p.T118I|uc002gih.3,p.T211I|NM_001126112,p.T211I|ENST00000445888,p.T211I|uc002gig.1,p.T211I|ENST00000359597,p.T211I|uc002gij.3,p.T172I|NM_001276697,p.T52I|uc010cng.2,p.T52I|NM_001276699,p.T52I|ENST00000269305,p.T211I|ENST00000455263,p.T211I|ENST00000413465,p.T211I|uc002gio.3,p.T79I|uc002gii.2,p.T52I|NM_001126114,p.T211I|NM_001126115,p.T79I|uc010cnf.2,p.T52I|NM_001276696,p.T172I|ENST00000420246,p.T211I|NM_001276760,p.T172I|NM_001126117,p.T79I|NM_001276698,p.T52I|uc002gin.3,p.T118I|NM_001126113,p.T211I|ENST00000509690,p.T79I|NM_001276695,p.T172I|NM_001126116,p.T79I|uc010vug.3,p.T172I|NM_001126118,p.T172I|uc031qyq.1,p.T172I	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon5	c.C515T	p.T172I	GNLRVEYLDDRNTFRHSVVVPYEPP	GNLRVEYLDDRNIFRHSVVVPYEPP	9.0	10.0	CD8	-	4324_17:7578217-7578217 G>A_GNLRVEYLDDRNIFRHSVVVPYEPP
10:121658461-121658461 ->T	0.0	4324	COLON	-	-	-	-	SEC23IP	ENST00000369075,p.S229fs|uc001leu.2,p.S229fs|NM_007190,p.S229fs	protein_coding, processed_transcript	uc001leu.2	frameshift insertion	exon2	c.687dupT	p.S229fs	GPPVQMYQMPPGSLPPVPSSVQSPA	GPPVQMYQMPPGSFATGSFFSAVTGTAAGTCQTWGSLCSSAISFSTSKPI	8.0	8.0	-	-	4324_10:121658461-121658461 ->T_GPPVQMYQMPPGSFATGSFFSAVTGTAAGTCQTWGSLCSSAISFSTSKPI
2:32640724-32640724 G>T	1.0	4324	COLON	-	-	-	2	BIRC6	NM_016252,p.A789S|uc010ezu.3,p.A789S|ENST00000421745,p.A789S	retained_intron, protein_coding, nonsense_mediated_decay	uc010ezu.3	nonsynonymous SNV	exon10	c.G2365T	p.A789S	CNRRKGELESNLAVVNGANISVIQH	CNRRKGELESNLSVVNGANISVIQH	10.0	2.0	-	-	4324_2:32640724-32640724 G>T_CNRRKGELESNLSVVNGANISVIQH
17:30264441-30264441 C>T	1.0	4324	COLON	-	-	-	1	SUZ12	NM_015355,p.S59F|uc002hgt.2,p.S59F|uc002hgs.2,p.S59F|ENST00000322652,p.S59F|ENST00000580398,p.S59F	retained_intron, protein_coding	uc002hgt.2	nonsynonymous SNV	exon1	c.C176T	p.S59F	GGGGSYSASSSSSAAAAAGAAVLPV	GGGGSYSASSSSFAAAAAGAAVLPV	8.0	4.0	-	-	4324_17:30264441-30264441 C>T_GGGGSYSASSSSFAAAAAGAAVLPV
4:153249384-153249384 C>T	1.0	4324	COLON	-	-	ID=COSM117310,COSM117309,COSM22965,COSM1149856,COSM117308;OCCURENCE=24(large_intestine),1(biliary_tract),1(urinary_tract),2(small_intestine),9(endometrium),1(salivary_gland),2(ovary),34(haematopoietic_and_lymphoid_tissue),1(lung)	1	FBXW7	uc011cii.2,p.R465H|ENST00000603548,p.R465H|NM_033632,p.R465H|ENST00000263981,p.R385H|ENST00000296555,p.R347H|uc003imt.3,p.R465H|uc003imr.3,p.R347H|ENST00000603841,p.R465H|uc003imq.3,p.R385H|uc003ims.3,p.R465H|NM_018315,p.R385H|uc011cih.2,p.R289H|ENST00000281708,p.R465H|NM_001013415,p.R347H|ENST00000393956,p.R289H	protein_coding	uc011cii.2	nonsynonymous SNV	exon10	c.G1394A	p.R465H	CIHTLYGHTSTVRCMHLHEKRVVSG	CIHTLYGHTSTVHCMHLHEKRVVSG	6.0	6.0	-	-	4324_4:153249384-153249384 C>T_CIHTLYGHTSTVHCMHLHEKRVVSG
16:53686495-53686495 C>T	1.0	4324	COLON	0.0005	-	-	-	RPGRIP1L	NM_001127897,p.E702K|ENST00000564374,p.E702K|uc002ehp.3,p.E702K|uc010cbx.3,p.E702K|ENST00000563746,p.E702K|ENST00000379925,p.E702K|uc002eho.4,p.E702K|NM_015272,p.E702K|uc010vgy.2,p.E702K|uc010vgz.1,p.E702K|ENST00000262135,p.E702K	retained_intron, protein_coding, processed_transcript	uc010vgz.1	nonsynonymous SNV	exon15	c.G2104A	p.E702K	YETIAACQLKFHEILEKSGRIFCTA	YETIAACQLKFHKILEKSGRIFCTA	7.0	4.0	-	-	4324_16:53686495-53686495 C>T_YETIAACQLKFHKILEKSGRIFCTA
3:184073265-184073265 C>T	1.0	4324	COLON	-	-	-	-	CLCN2	ENST00000344937,p.R408H|uc011brm.3,p.R364H|ENST00000457512,p.R408H|uc011brn.2,p.R408H|uc011brl.3,p.R408H|uc010hya.3,p.R408H|NM_001171088,p.R364H|ENST00000265593,p.R408H|NM_001171087,p.R408H|uc003foi.4,p.R408H|NM_001171089,p.R408H|ENST00000423355,p.R49H|NM_004366,p.R408H|ENST00000434054,p.R364H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011brn.2	nonsynonymous SNV	exon12	c.G1223A	p.R408H	TLVTLFDNRTWVRQGLVEELEPPST	TLVTLFDNRTWVHQGLVEELEPPST	7.0	7.0	-	-	4324_3:184073265-184073265 C>T_TLVTLFDNRTWVHQGLVEELEPPST
10:93272121-93272121 G>A	1.0	4324	COLON	-	-	-	-	HECTD2	ENST00000371667,p.E421K|uc001khn.1,p.E421K|ENST00000446394,p.E775K|uc010qnm.1,p.E775K|ENST00000298068,p.E771K|NM_001284274,p.E775K|uc001khl.2,p.E771K|uc009xty.1,p.E360K|NM_182765,p.E771K|ENST00000536715,p.E360K	protein_coding, processed_transcript	uc010qnm.1	nonsynonymous SNV	exon22	c.G2323A	p.E775K	LKQKLIIGISNSEGFGLE	LKQKLIIGISNSKGFGLE	6.0	5.0	-	-	4324_10:93272121-93272121 G>A_LKQKLIIGISNSKGFGLE
3:52725618-52725618 A>G	1.0	4324	COLON	-	-	-	-	GNL3	NM_014366,p.N281S|uc003dfe.3,p.N269S|uc003dff.3,p.N269S|ENST00000418458,p.N281S|NM_206825,p.N269S|NM_206826,p.N269S|uc003dfd.3,p.N281S|ENST00000394799,p.N269S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dff.3	nonsynonymous SNV	exon9	c.A806G	p.N269S	SIINSLKQEQMCNVGVSMGLTRSMQ	SIINSLKQEQMCSVGVSMGLTRSMQ	10.0	10.0	-	-	4324_3:52725618-52725618 A>G_SIINSLKQEQMCSVGVSMGLTRSMQ
5:140581524-140581524 C>T	1.0	4324	COLON	-	-	-	-	PCDHB11	ENST00000354757,p.S726L|uc003liy.3,p.S726L|NM_018931,p.S726L|ENST00000536699,p.S361L	protein_coding	uc003liy.3	nonsynonymous SNV	exon1	c.C2177T	p.S726L	CRRSRAASVGSCSVPKGPFPGHLVD	CRRSRAASVGSCLVPKGPFPGHLVD	8.0	9.0	-	-	4324_5:140581524-140581524 C>T_CRRSRAASVGSCLVPKGPFPGHLVD
X:153735813-153735813 C>T	1.0	4324	COLON	-	-	-	-	FAM3A	uc022cih.1,p.D94N|NM_001171133,p.D94N|ENST00000426266,p.D139N|ENST00000359889,p.D132N|NM_001282311,p.D146N|NM_001171132,p.D132N|NM_021806,p.D132N|uc004fls.2,p.D132N|ENST00000393572,p.D94N|ENST00000369643,p.D132N|ENST00000369641,p.D139N|uc004flw.2,p.D132N|ENST00000447601,p.D132N|uc004flt.2,p.D146N|NM_001282312,p.D132N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022cih.1	nonsynonymous SNV	exon7	c.G280A	p.D94N	ARAFDMWAGDVNDLLKFIRPLHEGT	ARAFDMWAGDVNNLLKFIRPLHEGT	8.0	4.0	-	-	4324_X:153735813-153735813 C>T_ARAFDMWAGDVNNLLKFIRPLHEGT
5:112175212-112175216 AAAAG>-	1.0	4324	COLON	-	-	ID=COSM18764;OCCURENCE=1(stomach),34(large_intestine)	1	APC	uc010jca.3,p.I607fs|ENST00000257430,p.I1307fs|NM_001127511,p.I1289fs|uc011cvt.2,p.I1289fs|uc003kpz.4,p.I1307fs|ENST00000508376,p.I1307fs|NM_000038,p.I1307fs|ENST00000457016,p.I1307fs|uc003kpy.4,p.I1307fs|uc010jbz.3,p.I1024fs|NM_001127510,p.I1307fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	frameshift deletion	exon14	c.3867_3871del	p.I1289fs	EADSANTLQIAEIKEKIGTRSAEDP	EADSANTLQIAEIKDWN	8.0	4.0	-	-	4324_5:112175212-112175216 AAAAG>-_EADSANTLQIAEIKDWN
X:117744259-117744259 G>A	0.0	4324	COLON	-	-	-	-	DOCK11	NM_144658,p.E992K|uc004eqq.2,p.E758K|uc004eqp.2,p.E992K|ENST00000276202,p.E992K|ENST00000276204,p.E992K	protein_coding, processed_transcript	uc004eqq.2	nonsynonymous SNV	exon22	c.G2272A	p.E758K	NKIKLPRGQRFPETYHHVLHSLLLA	NKIKLPRGQRFPKTYHHVLHSLLLA	7.0	4.0	-	-	4324_X:117744259-117744259 G>A_NKIKLPRGQRFPKTYHHVLHSLLLA
2:152521853-152521853 C>T	1.0	4324	COLON	-	-	-	-	NEB	ENST00000604864,p.M1744I|ENST00000409198,p.M1744I|uc021vrb.1,p.M1744I|uc021vrd.1,p.M1744I|uc010fnx.3,p.M1744I|NM_001271208,p.M1744I|NM_001164508,p.M1744I|ENST00000603639,p.M1744I|ENST00000427231,p.M1744I|ENST00000397345,p.M1744I|NM_004543,p.M1744I|NM_001164507,p.M1744I|ENST00000172853,p.M1744I|uc021vrc.1,p.M1744I|uc002txu.3,p.M1744I|uc031rpp.1,p.M1744I	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon42	c.G5232A	p.M1744I	MEQALNKSNKLNMDKRLYTEKWNKD	MEQALNKSNKLNIDKRLYTEKWNKD	6.0	10.0	-	-	4324_2:152521853-152521853 C>T_MEQALNKSNKLNIDKRLYTEKWNKD
8:39114795-39114795 G>A	1.0	4324	COLON	-	-	-	-	ADAM32	ENST00000519315,p.A593T|ENST00000437682,p.A600T|ENST00000379907,p.A699T|NM_145004,p.A699T|uc003xmv.3,p.A123T|uc003xmu.4,p.A593T|uc003xmt.4,p.A699T|uc011lch.2,p.A600T	retained_intron, protein_coding, processed_transcript	uc011lch.2	nonsynonymous SNV	exon16	c.G1798A	p.A600T	FLIALPILIVTTAIVLARKQLKKWF	FLIALPILIVTTTIVLARKQLKKWF	6.0	3.0	-	-	4324_8:39114795-39114795 G>A_FLIALPILIVTTTIVLARKQLKKWF
10:105330836-105330836 G>A	1.0	4324	COLON	-	-	-	-	NEURL1	ENST00000437579,p.R81H|uc001kxh.3,p.R98H|NM_004210,p.R98H|uc021pxn.1,p.R81H|ENST00000455386,p.R23H|ENST00000369777,p.R81H|ENST00000369780,p.R98H	protein_coding, processed_transcript	uc021pxn.1	nonsynonymous SNV	exon2	c.G242A	p.R81H	QASFCNAITFSNRPVLIYEQVRLKI	QASFCNAITFSNHPVLIYEQVRLKI	5.0	6.0	-	-	4324_10:105330836-105330836 G>A_QASFCNAITFSNHPVLIYEQVRLKI
9:114454237-114454240 TTTA>-	1.0	4324	COLON	-	-	ID=COSM298330,COSM298331;OCCURENCE=1(large_intestine)	-	C9orf84	NM_001080551,p.N1236fs|ENST00000394779,p.N1236fs|uc004bfq.3,p.N1236fs|NM_173521,p.N1275fs|uc004bfr.3,p.N1275fs|ENST00000318737,p.N1275fs|ENST00000374287,p.N1275fs|ENST00000394777,p.N1201fs|uc010mug.4,p.N1201fs	protein_coding	uc010mug.4	frameshift deletion	exon22	c.3603_3606del	p.N1201fs	QKRRTHEAKGFINKDVSDPIFSLEG	QKRRTHEAKGFIKMYRTLSFH	1.0	9.0	-	-	4324_9:114454237-114454240 TTTA>-_QKRRTHEAKGFIKMYRTLSFH
8:144886808-144886808 C>T	0.0	4324	COLON	-	-	-	-	SCRIB	ENST00000377533,p.G899E|uc003yzo.1,p.G980E|uc003yzp.1,p.G980E|ENST00000356994,p.G980E|NM_182706,p.G980E|ENST00000320476,p.G980E|NM_015356,p.G980E	retained_intron, protein_coding, processed_transcript	uc003yzp.1	nonsynonymous SNV	exon21	c.G2939A	p.G980E	AVATTSITTATPGVPGLPSLAPSLL	AVATTSITTATPEVPGLPSLAPSLL	7.0	1.0	-	-	4324_8:144886808-144886808 C>T_AVATTSITTATPEVPGLPSLAPSLL
6:87970386-87970386 A>G	1.0	4324	COLON	-	-	-	-	ZNF292	NM_015021,p.K2347E|uc003plm.4,p.K2347E|ENST00000369577,p.K2347E|ENST00000339907,p.K2342E	protein_coding, processed_transcript	uc003plm.4	nonsynonymous SNV	exon8	c.A7039G	p.K2347E	RKKKNNLENKNAKIVQIEENKPYSL	RKKKNNLENKNAEIVQIEENKPYSL	8.0	1.0	-	-	4324_6:87970386-87970386 A>G_RKKKNNLENKNAEIVQIEENKPYSL
16:28884870-28884870 C>T	1.0	4324	COLON	-	-	-	-	SH2B1	uc002dri.3,p.A667V|ENST00000322610,p.A667V|uc002drl.3,p.A667V|NM_001145795,p.A667V	retained_intron, protein_coding, processed_transcript	uc002drl.3	nonsynonymous SNV	exon9	c.C2000T	p.A667V	PGAEEASRAPEVAAAAAAAAKERQE	PGAEEASRAPEVVAAAAAAAKERQE	8.0	1.0	-	-	4324_16:28884870-28884870 C>T_PGAEEASRAPEVVAAAAAAAKERQE
16:10525085-10525085 C>G	1.0	4324	COLON	-	-	-	-	ATF7IP2	ENST00000396560,p.T203R|NM_024997,p.T203R|NM_001256160,p.T203R|uc002czu.3,p.T203R|ENST00000356427,p.T203R|ENST00000568027,p.T203R|ENST00000396559,p.T203R|ENST00000535850,p.T203R|ENST00000324570,p.T203R|uc002czv.3,p.T203R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002czv.3	nonsynonymous SNV	exon4	c.C608G	p.T203R	DKKTDQMVFHLETNSNSESHDKRQS	DKKTDQMVFHLERNSNSESHDKRQS	7.0	3.0	-	-	4324_16:10525085-10525085 C>G_DKKTDQMVFHLERNSNSESHDKRQS
9:8633319-8633319 C>T	1.0	4324	COLON	-	-	-	-	PTPRD	ENST00000463477,p.R117Q|uc003zkr.3,p.R117Q|ENST00000540109,p.R117Q|ENST00000397606,p.R117Q|NM_130393,p.R117Q|ENST00000355233,p.R117Q|uc022bdj.1,p.R117Q|uc003zks.3,p.R117Q|uc003zkq.3,p.R117Q|ENST00000397617,p.R117Q|uc003zkk.3,p.R117Q|ENST00000358503,p.R117Q|NM_130392,p.R117Q|ENST00000397611,p.R117Q|NM_002839,p.R117Q|NM_001171025,p.R117Q|ENST00000356435,p.R117Q|ENST00000381196,p.R117Q|uc003zkp.3,p.R117Q|ENST00000486161,p.R117Q|ENST00000360074,p.R117Q|uc003zkt.1,p.R117Q|NM_001040712,p.R117Q|ENST00000537002,p.R117Q|NM_130391,p.R117Q	retained_intron, protein_coding, processed_transcript	uc022bdj.1	nonsynonymous SNV	exon3	c.G350A	p.R117Q	GEISVSTRLTVLREDQIPRGFPTID	GEISVSTRLTVLQEDQIPRGFPTID	8.0	2.0	-	-	4324_9:8633319-8633319 C>T_GEISVSTRLTVLQEDQIPRGFPTID
6:56919330-56919330 A>G	1.0	4324	COLON	-	-	-	-	KIAA1586	NM_001286276,p.N611S|NM_001286275,p.N611S|uc011dxm.2,p.N651S|NM_001286274,p.N651S|uc003pdj.3,p.N678S|ENST00000545356,p.N651S|NM_020931,p.N678S|ENST00000370733,p.N678S	protein_coding, processed_transcript	uc011dxm.2	nonsynonymous SNV	exon3	c.A1952G	p.N651S	VDLNDFREFVNNNIKSNNVSIPTTI	VDLNDFREFVNNSIKSNNVSIPTTI	6.0	6.0	-	-	4324_6:56919330-56919330 A>G_VDLNDFREFVNNSIKSNNVSIPTTI
8:144378921-144378921 G>A	0.0	4324	COLON	-	-	-	-	ZNF696	uc003yxy.4,p.R359H|ENST00000330143,p.R359H|NM_030895,p.R359H	protein_coding, nonsense_mediated_decay	uc003yxy.4	nonsynonymous SNV	exon3	c.G1076A	p.R359H	KPFRCTECGRAFRLSFHLIQHRRVH	KPFRCTECGRAFHLSFHLIQHRRVH	5.0	3.0	-	-	4324_8:144378921-144378921 G>A_KPFRCTECGRAFHLSFHLIQHRRVH
X:134185943-134185943 T>G	0.0	4324	COLON	-	-	-	-	FAM127B	ENST00000370775,p.T66P|NM_001078172,p.T66P|uc004eyf.3,p.T66P	protein_coding, processed_transcript	uc004eyf.3	nonsynonymous SNV	exon1	c.A196C	p.T66P	DENTFSNDALKVTFLITRLTGPALQ	DENTFSNDALKVPFLITRLTGPALQ	9.0	5.0	-	-	4324_X:134185943-134185943 T>G_DENTFSNDALKVPFLITRLTGPALQ
10:5777270-5777270 C>T	1.0	4324	COLON	-	-	-	-	FAM208B	NM_017782,p.A403V|ENST00000328090,p.A403V|uc001iij.3,p.A403V	retained_intron, protein_coding, processed_transcript	uc001iij.3	nonsynonymous SNV	exon12	c.C1208T	p.A403V	VKGQFPQKRKRGAEVLTAQFVQKTK	VKGQFPQKRKRGVEVLTAQFVQKTK	7.0	5.0	-	-	4324_10:5777270-5777270 C>T_VKGQFPQKRKRGVEVLTAQFVQKTK
2:179581861-179581861 C>T	0.0	4324	COLON	-	-	-	-	TTN	uc031rqd.1,p.A8217T|ENST00000342992,p.A7290T|uc031rqc.1,p.A8534T|NM_001267550,p.A8534T|ENST00000591111,p.A8217T|uc002umz.1,p.A3951T|NM_133378,p.A7290T|ENST00000589042,p.A8534T|uc021vsy.2,p.A7290T|NM_001256850,p.A8217T	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon86	c.G24649A	p.A8217T	DAGQYTCYASNIAGKDSCSAQLGVQ	DAGQYTCYASNITGKDSCSAQLGVQ	6.0	7.0	-	-	4324_2:179581861-179581861 C>T_DAGQYTCYASNITGKDSCSAQLGVQ
19:47217255-47217255 G>A	1.0	4324	COLON	-	-	-	-	PRKD2	uc010xye.2,p.P82S|ENST00000433867,p.P82S|NM_001079881,p.P82S|NM_016457,p.P82S|ENST00000291281,p.P82S|ENST00000595515,p.P82S|uc002pfj.3,p.P82S|uc002pfh.3,p.P82S|NM_001079880,p.P82S|uc002pfi.3,p.P82S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xye.2	nonsynonymous SNV	exon3	c.C244T	p.P82S	KQLACSIVDQKFPECGFYGLYDKIL	KQLACSIVDQKFSECGFYGLYDKIL	8.0	5.0	-	-	4324_19:47217255-47217255 G>A_KQLACSIVDQKFSECGFYGLYDKIL
X:3228229-3228229 G>A	0.0	4324	COLON	-	-	ID=COSM380031,COSM380030;OCCURENCE=1(large_intestine),1(lung)	-	MXRA5	ENST00000217939,p.T2672M|NM_015419,p.T2672M|uc004crg.4,p.T2672M	protein_coding	uc004crg.4	nonsynonymous SNV	exon7	c.C8015T	p.T2672M	TPPGAGQGRFSWTLPNGMHLEGPQT	TPPGAGQGRFSWMLPNGMHLEGPQT	6.0	9.0	-	-	4324_X:3228229-3228229 G>A_TPPGAGQGRFSWMLPNGMHLEGPQT
2:219129783-219129783 G>C	1.0	4324	COLON	-	-	-	-	AAMP	NM_001087,p.R397G|ENST00000248450,p.R397G|uc002vhl.3,p.R398G|ENST00000444053,p.R398G|ENST00000420660,p.R378G|uc002vhk.3,p.R397G	retained_intron, protein_coding	uc002vhl.3	nonsynonymous SNV	exon10	c.C1192G	p.R398G	WDARTGRLLTDYRGHTAEILDFALS	WDARTGRLLTDYGGHTAEILDFALS	10.0	8.0	-	-	4324_2:219129783-219129783 G>C_WDARTGRLLTDYGGHTAEILDFALS
X:72433139-72433139 C>T	1.0	4324	COLON	-	-	ID=COSM613433;OCCURENCE=1(oesophagus)	-	NAP1L2	uc004ebi.3,p.R397H|ENST00000373517,p.R397H|ENST00000536638,p.R255H|NM_021963,p.R397H	protein_coding	uc004ebi.3	nonsynonymous SNV	exon1	c.G1190A	p.R397H	DGNDDFLLGHNLRTYIIPRSVLFFS	DGNDDFLLGHNLHTYIIPRSVLFFS	4.0	9.0	-	-	4324_X:72433139-72433139 C>T_DGNDDFLLGHNLHTYIIPRSVLFFS
2:79385865-79385865 G>A	1.0	4324	COLON	-	-	-	-	REG3A	NM_002580,p.A36V|ENST00000409839,p.A36V|uc002soe.2,p.A36V|ENST00000305165,p.A36V|NM_138938,p.A36V|NM_138937,p.A36V|uc002sod.2,p.A36V|uc002sof.2,p.A36V|ENST00000393878,p.A36V	retained_intron, protein_coding	uc002sof.2	nonsynonymous SNV	exon3	c.C107T	p.A36V	VQGEEPQRELPSARIRCPKGSKAYG	VQGEEPQRELPSVRIRCPKGSKAYG	8.0	7.0	-	-	4324_2:79385865-79385865 G>A_VQGEEPQRELPSVRIRCPKGSKAYG
11:56258189-56258189 T>A	0.0	4324	COLON	-	-	-	-	OR5M8	NM_001005282,p.I220F|ENST00000327216,p.I220F|uc001nix.1,p.I220F	protein_coding	uc001nix.1	nonsynonymous SNV	exon1	c.A658T	p.I220F	FSLFIICISYLYIFPAILKIRSTEG	FSLFIICISYLYFFPAILKIRSTEG	1.0	9.0	-	-	4324_11:56258189-56258189 T>A_FSLFIICISYLYFFPAILKIRSTEG
3:38802808-38802808 G>A	0.0	4324	COLON	-	-	-	-	SCN10A	ENST00000449082,p.T253I|uc003ciq.3,p.T253I|NM_001293307,p.T253I|NM_006514,p.T253I|NM_001293306,p.T253I	protein_coding	uc003ciq.3	nonsynonymous SNV	exon6	c.C758T	p.T253I	HSVKKLADVTILTIFCLSVFALVGL	HSVKKLADVTILIIFCLSVFALVGL	1.0	10.0	-	-	4324_3:38802808-38802808 G>A_HSVKKLADVTILIIFCLSVFALVGL
15:34394040-34394040 T>A	1.0	4324	COLON	-	-	-	-	EMC7	ENST00000256545,p.M1L|uc001zhm.3,p.M1L|NM_020154,p.M1L	protein_coding, processed_transcript	uc001zhm.3	nonsynonymous SNV	exon1	c.A1T	p.M1L	MAAALWGFFPVLL	LAAALWGFFPVLL	9.0	7.0	unscreened	-	4324_15:34394040-34394040 T>A_LAAALWGFFPVLL
11:134121164-134121164 A>G	1.0	4324	COLON	-	-	-	-	THYN1	ENST00000392594,p.S28P|NM_199298,p.S28P|NM_001037305,p.S28P|uc009zdb.3,p.S28P|ENST00000352327,p.S28P|uc001qhg.3,p.S28P|uc001qhj.3,p.S28P|uc001qhh.3,p.S28P|ENST00000392595,p.S28P|uc001qhf.3,p.S28P|ENST00000341541,p.S28P|NM_001037304,p.S28P|uc001qhi.3,p.S28P|NM_014174,p.S28P|NM_199297,p.S28P	retained_intron, protein_coding, processed_transcript	uc009zdb.3	nonsynonymous SNV	exon2	c.T82C	p.S28P	KGLSGKRTKTENSGEALAKVEDSNP	KGLSGKRTKTENPGEALAKVEDSNP	9.0	4.0	-	-	4324_11:134121164-134121164 A>G_KGLSGKRTKTENPGEALAKVEDSNP
17:58725318-58725318 G>A	1.0	4324	COLON	-	-	-	1	PPM1D	ENST00000305921,p.V298I|uc002iyt.2,p.V298I|ENST00000392995,p.V298I|NM_003620,p.V298I	protein_coding, nonsense_mediated_decay	uc002iyt.2	nonsynonymous SNV	exon4	c.G892A	p.V298I	GEFVVSPEPDTSVHTLDPQKHKYII	GEFVVSPEPDTSIHTLDPQKHKYII	8.0	3.0	-	-	4324_17:58725318-58725318 G>A_GEFVVSPEPDTSIHTLDPQKHKYII
9:6013293-6013293 T>A	1.0	4324	COLON	-	-	-	-	RANBP6	NM_001243202,p.D420V|NM_012416,p.D772V|uc011lmf.2,p.D420V|ENST00000259569,p.D772V|uc003zjr.3,p.D772V	protein_coding, processed_transcript	uc011lmf.2	nonsynonymous SNV	exon2	c.A1259T	p.D420V	PLIKAIGTEPDTDVLSEIMNSFAKS	PLIKAIGTEPDTVVLSEIMNSFAKS	5.0	1.0	-	-	4324_9:6013293-6013293 T>A_PLIKAIGTEPDTVVLSEIMNSFAKS
5:145393592-145393592 A>G	1.0	4324	COLON	-	-	-	-	SH3RF2	uc003lnt.3,p.K343E|NM_152550,p.K343E|ENST00000359120,p.K343E|uc011dbl.1,p.K343E|ENST00000511217,p.K343E	retained_intron, protein_coding, processed_transcript	uc011dbl.1	nonsynonymous SNV	exon4	c.A1027G	p.K343E	SSNPSVITQPMEKADVPSSCVGQVS	SSNPSVITQPMEEADVPSSCVGQVS	9.0	1.0	-	-	4324_5:145393592-145393592 A>G_SSNPSVITQPMEEADVPSSCVGQVS
8:131861864-131861864 C>T	0.0	4324	COLON	-	-	-	-	ADCY8	uc003ytd.4,p.G799D|ENST00000286355,p.G799D|NM_001115,p.G799D	protein_coding	uc003ytd.4	nonsynonymous SNV	exon10	c.G2396A	p.G799D	VIIFASILINFLGAILNILWCDFDK	VIIFASILINFLDAILNILWCDFDK	2.0	6.0	-	-	4324_8:131861864-131861864 C>T_VIIFASILINFLDAILNILWCDFDK
5:9629817-9629817 C>T	0.0	4324	COLON	-	-	-	-	TAS2R1	ENST00000382492,p.V110I|NM_019599,p.V110I|uc003jem.1,p.V110I|ENST00000514078,p.V70I	protein_coding	uc003jem.1	nonsynonymous SNV	exon1	c.G328A	p.V110I	WLGVFYCAKVASVRHPLFIWLKMRI	WLGVFYCAKVASIRHPLFIWLKMRI	1.0	5.0	-	-	4324_5:9629817-9629817 C>T_WLGVFYCAKVASIRHPLFIWLKMRI
X:153045903-153045903 A>C	0.0	4324	COLON	-	-	-	-	SRPK3	uc004fik.3,p.S74R|ENST00000489426,p.S75R	protein_coding	uc004fik.3	nonsynonymous SNV	exon7	c.A220C	p.S74R	PGSVAGAGSGLASSQASPQQACCLC	PGSVAGAGSGLARSQASPQQACCLC	5.0	1.0	-	-	4324_X:153045903-153045903 A>C_PGSVAGAGSGLARSQASPQQACCLC
X:102983077-102983077 C>A	0.0	4324	COLON	-	-	-	-	GLRA4	NM_001172285,p.G19W|NM_001024452,p.G19W|ENST00000372617,p.G19W|uc011mse.2,p.G19W|uc010nou.2,p.G19W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mse.2	nonsynonymous SNV	exon1	c.G55T	p.G19W	ATLSFLLLWTLPGQVLLRVALAKEE	ATLSFLLLWTLPWQVLLRVALAKEE	2.0	4.0	-	-	4324_X:102983077-102983077 C>A_ATLSFLLLWTLPWQVLLRVALAKEE
10:73831921-73831921 G>A	0.0	4324	COLON	-	-	-	-	SPOCK2	uc001jso.2,p.R114C|NM_001244950,p.R114C|NM_014767,p.R114C|ENST00000536168,p.R114C|ENST00000317376,p.R114C|uc001jsp.3,p.R114C|ENST00000373109,p.R114C	protein_coding, processed_transcript	uc001jsp.3	nonsynonymous SNV	exon5	c.C340T	p.R114C	IAQGYQRAMCISRKKLEHRIKQPTV	IAQGYQRAMCISCKKLEHRIKQPTV	7.0	8.0	-	-	4324_10:73831921-73831921 G>A_IAQGYQRAMCISCKKLEHRIKQPTV
X:96197034-96197034 T>A	0.0	4324	COLON	-	-	-	-	DIAPH2	uc004efu.4,p.I448K|ENST00000373054,p.I444K|ENST00000355827,p.I448K|NM_006729,p.I448K|uc004eft.4,p.I448K|NM_007309,p.I448K|ENST00000324765,p.I448K|ENST00000373049,p.I448K|ENST00000373061,p.I448K	protein_coding	uc004efu.4	nonsynonymous SNV	exon13	c.T1343A	p.I448K	RNDYYIRPQYYKIIEECVSQIVLHC	RNDYYIRPQYYKKIEECVSQIVLHC	9.0	5.0	-	-	4324_X:96197034-96197034 T>A_RNDYYIRPQYYKKIEECVSQIVLHC
19:49439406-49439406 G>A	0.0	4324	COLON	-	-	-	-	DHDH	NM_014475,p.R107H|ENST00000522614,p.R107H|uc002ple.1,p.R107H|ENST00000221403,p.R107H	protein_coding, nonsense_mediated_decay	uc002ple.1	nonsynonymous SNV	exon3	c.G320A	p.R107H	CEKPTGVNAAEVREMVAEARSRALF	CEKPTGVNAAEVHEMVAEARSRALF	5.0	5.0	-	-	4324_19:49439406-49439406 G>A_CEKPTGVNAAEVHEMVAEARSRALF
7:148769358-148769358 C>G	1.0	4324	COLON	-	-	-	-	ZNF786	uc003wfi.2,p.R83T|uc011kuk.1,p.R132T|NM_152411,p.R169T|ENST00000316286,p.R83T|ENST00000491431,p.R169T|uc003wfh.2,p.R169T|ENST00000451334,p.R132T	protein_coding	uc011kuk.1	nonsynonymous SNV	exon5	c.G395C	p.R132T	SESTLKEGIPGPRNLDLPGLWDVPA	SESTLKEGIPGPTNLDLPGLWDVPA	5.0	5.0	-	-	4324_7:148769358-148769358 C>G_SESTLKEGIPGPTNLDLPGLWDVPA
1:237550644-237550644 G>A	0.0	4324	COLON	-	-	ID=COSM3723459,COSM3723458;OCCURENCE=1(upper_aerodigestive_tract)	-	RYR2	NM_001035,p.V214M|ENST00000366574,p.V214M|ENST00000360064,p.V212M|ENST00000542537,p.V198M|uc001hyl.1,p.V214M	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon9	c.G640A	p.V214M	HVDAAFQQTLWSVAPISSGSEAAQG	HVDAAFQQTLWSMAPISSGSEAAQG	4.0	9.0	-	-	4324_1:237550644-237550644 G>A_HVDAAFQQTLWSMAPISSGSEAAQG
17:45821717-45821717 G>A	0.0	4324	COLON	-	-	-	-	TBX21	ENST00000177694,p.E309K|NM_013351,p.E309K|uc002ilv.1,p.E309K	retained_intron, protein_coding	uc002ilv.1	nonsynonymous SNV	exon4	c.G925A	p.E309K	TQFIAVTAYQNAEITQLKIDNNPFA	TQFIAVTAYQNAKITQLKIDNNPFA	3.0	7.0	-	-	4324_17:45821717-45821717 G>A_TQFIAVTAYQNAKITQLKIDNNPFA
15:83433955-83433955 C>T	0.0	4324	COLON	-	-	-	-	FSD2	NM_001281806,p.A550T|uc002bjd.2,p.A595T|uc010uol.1,p.A550T|ENST00000541889,p.A550T|NM_001281805,p.A550T|NM_001007122,p.A595T|uc010uom.1,p.A550T|ENST00000334574,p.A595T	protein_coding	uc010uom.1	nonsynonymous SNV	exon10	c.G1648A	p.A550T	GLTAVRSERRTPARELSPSDTHFTR	GLTAVRSERRTPTRELSPSDTHFTR	2.0	10.0	-	-	4324_15:83433955-83433955 C>T_GLTAVRSERRTPTRELSPSDTHFTR
19:47127313-47127313 G>A	1.0	4324	COLON	-	-	-	-	PTGIR	NM_000960,p.A57V|ENST00000596260,p.A57V|uc002pex.3,p.A57V|ENST00000291294,p.A57V	retained_intron, protein_coding	uc002pex.3	nonsynonymous SNV	exon2	c.C170T	p.A57V	RPSAFAVLVTGLAATDLLGTSFLSP	RPSAFAVLVTGLVATDLLGTSFLSP	4.0	9.0	-	-	4324_19:47127313-47127313 G>A_RPSAFAVLVTGLVATDLLGTSFLSP
1:22915642-22915642 G>A	1.0	4324	COLON	-	-	-	-	EPHA8	ENST00000538803,p.D420N|NM_020526,p.D420N|NM_001006943,p.D420N|uc001bfw.3,p.D420N|ENST00000166244,p.D420N|uc001bfx.1,p.D420N|ENST00000374644,p.D420N	protein_coding	uc001bfx.1	nonsynonymous SNV	exon5	c.G1258A	p.D420N	YSFWIEAVNGVSDLSPEPRRAAVVN	YSFWIEAVNGVSNLSPEPRRAAVVN	4.0	10.0	-	-	4324_1:22915642-22915642 G>A_YSFWIEAVNGVSNLSPEPRRAAVVN
16:12145830-12145830 C>T	1.0	4324	COLON	-	-	-	-	SNX29	uc002dbw.3,p.S292L|uc002dby.5,p.S292L|ENST00000566228,p.S292L|NM_032167,p.S292L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dby.5	nonsynonymous SNV	exon8	c.C875T	p.S292L	DVFKKTPGAGESSEDNSDRSSVNIM	DVFKKTPGAGESLEDNSDRSSVNIM	9.0	3.0	-	-	4324_16:12145830-12145830 C>T_DVFKKTPGAGESLEDNSDRSSVNIM
13:109562438-109562438 T>C	0.0	4324	COLON	-	-	-	-	MYO16	uc001vqt.1,p.M600T|ENST00000457511,p.M112T|uc001vqu.1,p.M400T|NM_015011,p.M600T|uc010agk.2,p.M622T|ENST00000251041,p.M600T|uc010tjh.1,p.M112T|ENST00000357550,p.M600T|ENST00000356711,p.M600T|NM_001198950,p.M622T	protein_coding, processed_transcript	uc010tjh.1	nonsynonymous SNV	exon4	c.T335C	p.M112T	LGQSNFLIFYLLMDGLSAEEKYGLH	LGQSNFLIFYLLTDGLSAEEKYGLH	5.0	2.0	-	-	4324_13:109562438-109562438 T>C_LGQSNFLIFYLLTDGLSAEEKYGLH
15:29346923-29346923 C>T	0.0	4324	COLON	-	-	-	-	APBA2	ENST00000411764,p.A279V|ENST00000561069,p.A279V|ENST00000558330,p.A279V|ENST00000558259,p.A279V|ENST00000558402,p.A279V|uc001zck.3,p.A279V|uc010uat.2,p.A279V|uc001zcl.3,p.A279V|uc010uas.1,p.A279V|NM_001130414,p.A279V|NM_005503,p.A279V|uc010azj.2,p.A279V	retained_intron, protein_coding	uc010uat.2	nonsynonymous SNV	exon5	c.C836T	p.A279V	PIKASCSPSRHEARPKSLNLLPEAK	PIKASCSPSRHEVRPKSLNLLPEAK	5.0	10.0	-	-	4324_15:29346923-29346923 C>T_PIKASCSPSRHEVRPKSLNLLPEAK
8:53569301-53569301 C>G	1.0	4324	COLON	-	-	-	-	RB1CC1	uc003xrf.4,p.E1030Q|ENST00000539297,p.E1030Q|NM_014781,p.E1030Q|NM_001083617,p.E1030Q|uc003xre.4,p.E1030Q|ENST00000435644,p.E1030Q|ENST00000025008,p.E1030Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xrf.4	nonsynonymous SNV	exon15	c.G3088C	p.E1030Q	KKENQQIINQIQESHAEIIQEKEKQ	KKENQQIINQIQQSHAEIIQEKEKQ	8.0	2.0	-	-	4324_8:53569301-53569301 C>G_KKENQQIINQIQQSHAEIIQEKEKQ
X:23929960-23929960 C>T	0.0	4324	COLON	-	-	-	-	CXorf58	ENST00000379211,p.A68V|uc011mju.1,p.A68V|NM_001169574,p.A68V|uc004daz.1,p.A68V|NM_152761,p.A68V	protein_coding	uc011mju.1	nonsynonymous SNV	exon3	c.C203T	p.A68V	HTNKMIFRLLKHAICAAEFYVTHEI	HTNKMIFRLLKHVICAAEFYVTHEI	1.0	1.0	-	-	4324_X:23929960-23929960 C>T_HTNKMIFRLLKHVICAAEFYVTHEI
3:38608045-38608045 C>T	1.0	4324	COLON	-	-	ID=COSM1240142,COSM1240141,COSM1240140;OCCURENCE=1(oesophagus)	-	SCN5A	ENST00000413689,p.R1232Q|uc021wvv.1,p.R1232Q|uc021wvj.1,p.R1044Q|ENST00000455624,p.R1231Q|uc021wvs.1,p.R1232Q|uc021wvq.1,p.R1231Q|ENST00000443581,p.R1231Q|ENST00000414099,p.R1232Q|uc021wvp.1,p.R1232Q|uc021wvl.1,p.R1178Q|NM_000335,p.R1231Q|uc021wvw.1,p.R842Q|uc021wvo.1,p.R1232Q|NM_001099404,p.R1232Q|ENST00000450102,p.R1178Q|NM_001160161,p.R1178Q|uc021wvn.1,p.R1231Q|uc021wvr.1,p.R1232Q|ENST00000449557,p.R1178Q|uc021wvm.1,p.R1232Q|ENST00000423572,p.R1231Q|ENST00000451551,p.R1178Q|NM_001160160,p.R1231Q|NM_001099405,p.R1232Q|ENST00000333535,p.R1232Q|uc021wvi.1,p.R1098Q|uc021wvu.1,p.R1178Q|ENST00000425664,p.R1232Q|NM_198056,p.R1232Q|uc021wvk.1,p.R1231Q|uc021wvt.1,p.R1231Q	retained_intron, protein_coding, processed_transcript	uc021wvw.1	nonsynonymous SNV	exon12	c.G2525A	p.R842Q	GALAFEDIYLEERKTIKVLLEYADK	GALAFEDIYLEEQKTIKVLLEYADK	4.0	10.0	-	-	4324_3:38608045-38608045 C>T_GALAFEDIYLEEQKTIKVLLEYADK
X:107977810-107977810 C>A	0.0	4324	COLON	-	-	-	1	IRS4	ENST00000372129,p.G589W|NM_003604,p.G589W|uc004eoc.2,p.G589W	protein_coding	uc004eoc.2	nonsynonymous SNV	exon1	c.G1765T	p.G589W	GDGHGSGGGKNSGGGKGSGSGKGSD	GDGHGSGGGKNSWGGKGSGSGKGSD	1.0	9.0	-	-	4324_X:107977810-107977810 C>A_GDGHGSGGGKNSWGGKGSGSGKGSD
3:96585727-96585727 A>C	0.0	4324	COLON	-	-	-	-	EPHA6	uc010how.1,p.L148F|NM_001080448,p.L148F|ENST00000470610,p.L148F|uc003drp.1,p.L148F|uc031sar.1,p.L148F|NM_001278301,p.L148F|ENST00000389672,p.L148F|ENST00000542517,p.L54F	protein_coding, nonsense_mediated_decay	uc031sar.1	nonsynonymous SNV	exon2	c.A444C	p.L148F	TVLGELGWKTYPLNGWDAITEMDEH	TVLGELGWKTYPFNGWDAITEMDEH	2.0	7.0	-	-	4324_3:96585727-96585727 A>C_TVLGELGWKTYPFNGWDAITEMDEH
2:224462445-224462445 A>G	0.0	4324	COLON	-	-	-	-	SCG2	uc002vnm.3,p.I519T|ENST00000305409,p.I519T|uc021vxk.1,p.I519T|NM_003469,p.I519T	protein_coding	uc021vxk.1	nonsynonymous SNV	exon1	c.T1556C	p.I519T	YLARMLVKYPEIINSNQVKRVPGQG	YLARMLVKYPEITNSNQVKRVPGQG	4.0	8.0	-	-	4324_2:224462445-224462445 A>G_YLARMLVKYPEITNSNQVKRVPGQG
1:248112473-248112473 C>A	0.0	4324	COLON	-	-	-	-	OR2L8	NM_001001963,p.A105E|uc001idt.1,p.A105E|ENST00000357191,p.A105E	protein_coding	uc001idt.1	nonsynonymous SNV	exon1	c.C314A	p.A105E	FTGCGIQSFFFLALGGAEALLLASM	FTGCGIQSFFFLELGGAEALLLASM	1.0	3.0	-	-	4324_1:248112473-248112473 C>A_FTGCGIQSFFFLELGGAEALLLASM
7:44797696-44797696 A>C	1.0	4324	COLON	-	-	-	-	ZMIZ2	NM_001300959,p.T236P|ENST00000433667,p.T236P|ENST00000265346,p.T268P|uc003tlq.3,p.T236P|uc003tlr.3,p.T268P|NM_174929,p.T268P|ENST00000413916,p.T236P|ENST00000309315,p.T268P|uc003tls.3,p.T268P|NM_031449,p.T268P|ENST00000441627,p.T268P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tls.3	nonsynonymous SNV	exon5	c.A802C	p.T268P	QAQPLPRQGVKRTYSEVYPGQQYLQ	QAQPLPRQGVKRPYSEVYPGQQYLQ	9.0	2.0	-	-	4324_7:44797696-44797696 A>C_QAQPLPRQGVKRPYSEVYPGQQYLQ
20:44641918-44641918 G>A	1.0	4324	COLON	-	-	-	-	MMP9	ENST00000372330,p.R452Q|uc002xqz.3,p.R452Q|NM_004994,p.R452Q	protein_coding	uc002xqz.3	nonsynonymous SNV	exon9	c.G1355A	p.R452Q	RHLYGPRPEPEPRPPTTTTPQPTAP	RHLYGPRPEPEPQPPTTTTPQPTAP	9.0	10.0	-	-	4324_20:44641918-44641918 G>A_RHLYGPRPEPEPQPPTTTTPQPTAP
X:71351335-71351335 C>T	0.0	4324	COLON	-	-	ID=COSM1735268;OCCURENCE=1(pancreas)	-	RGAG4	NM_001024455,p.R19H|ENST00000545866,p.R19H|uc004eaj.2,p.R19H|ENST00000479991,p.R19H|uc010nlh.2,p.R19H	protein_coding	uc010nlh.2	nonsynonymous SNV	exon1	c.G56A	p.R19H	NLNSLRMANVALREELNALRGENAN	NLNSLRMANVALHEELNALRGENAN	3.0	4.0	-	-	4324_X:71351335-71351335 C>T_NLNSLRMANVALHEELNALRGENAN
19:49573982-49573982 A>G	0.0	4324	COLON	-	-	-	-	KCNA7	uc002pmg.3,p.F237L|NM_031886,p.F237L|ENST00000221444,p.F237L	protein_coding	uc002pmg.3	nonsynonymous SNV	exon2	c.T709C	p.F237L	LVRLLVCPSKAIFFKNVMNLIDFVA	LVRLLVCPSKAILFKNVMNLIDFVA	1.0	8.0	-	-	4324_19:49573982-49573982 A>G_LVRLLVCPSKAILFKNVMNLIDFVA
4:8870008-8870008 C>T	0.0	4324	COLON	-	-	-	-	HMX1	ENST00000400677,p.R153Q|uc003izz.1,p.R153Q|NM_018942,p.R153Q	protein_coding	uc003izz.1	nonsynonymous SNV	exon2	c.G458A	p.R153Q	GEEMGRAEGAWPRGPGPGAVQREAA	GEEMGRAEGAWPQGPGPGAVQREAA	1.0	10.0	-	-	4324_4:8870008-8870008 C>T_GEEMGRAEGAWPQGPGPGAVQREAA
19:8668636-8668636 G>T	0.0	4324	COLON	-	-	-	-	ADAMTS10	ENST00000596851,p.L190M|NM_030957,p.L190M|uc002mkj.1,p.L190M|ENST00000597188,p.L190M|ENST00000270328,p.L190M|ENST00000593913,p.L190M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkj.1	nonsynonymous SNV	exon5	c.C568A	p.L190M	VVYKRSSLRHPHLDTACGVRDEKPW	VVYKRSSLRHPHMDTACGVRDEKPW	5.0	6.0	-	-	4324_19:8668636-8668636 G>T_VVYKRSSLRHPHMDTACGVRDEKPW
1:248685190-248685190 G>T	0.0	4324	COLON	-	-	-	-	OR2G6	NM_001013355,p.L81F|ENST00000343414,p.L81F|uc001ien.1,p.L81F	protein_coding	uc001ien.1	nonsynonymous SNV	exon1	c.G243T	p.L81F	VDICFTTSVAPQLLVTMNKKDKTMS	VDICFTTSVAPQFLVTMNKKDKTMS	1.0	6.0	-	-	4324_1:248685190-248685190 G>T_VDICFTTSVAPQFLVTMNKKDKTMS
6:42797002-42797002 A>G	1.0	4324	COLON	-	-	-	-	GLTSCR1L	uc011duw.1,p.I311V|ENST00000314073,p.I311V|uc003oso.1,p.I311V|uc003osm.1,p.I311V|uc003osn.1,p.I311V|uc003osp.1,p.I311V|ENST00000394168,p.I311V|NM_015349,p.I311V	protein_coding	uc011duw.1	nonsynonymous SNV	exon5	c.A931G	p.I311V	QRGLAPNSNKVPINIQPKPIQMGQQ	QRGLAPNSNKVPVNIQPKPIQMGQQ	6.0	2.0	-	-	4324_6:42797002-42797002 A>G_QRGLAPNSNKVPVNIQPKPIQMGQQ
9:135413029-135413029 T>A	0.0	4324	COLON	-	-	-	-	C9orf171	ENST00000393216,p.L189Q|uc004cbo.3,p.L189Q|NM_207417,p.L225Q|uc004cbn.3,p.L225Q|NM_001282957,p.L189Q|ENST00000343036,p.L225Q	protein_coding	uc004cbo.3	nonsynonymous SNV	exon4	c.T566A	p.L189Q	STPFFDLLQHRYLQLWVQEQKATQK	STPFFDLLQHRYQQLWVQEQKATQK	3.0	1.0	-	-	4324_9:135413029-135413029 T>A_STPFFDLLQHRYQQLWVQEQKATQK
2:234846149-234846149 G>A	0.0	4324	COLON	-	-	-	-	TRPM8	ENST00000355722,p.G65E|ENST00000409625,p.G38E|ENST00000324695,p.G115E|NM_024080,p.G115E|uc002vvh.3,p.G115E|uc002vvi.3,p.G65E|uc002vvj.3,p.G38E|ENST00000444298,p.G115E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vvj.3	nonsynonymous SNV	exon2	c.G113A	p.G38E	FGDIQFETLGKKGKYIRLSCDTDAE	FGDIQFETLGKKEKYIRLSCDTDAE	4.0	7.0	-	-	4324_2:234846149-234846149 G>A_FGDIQFETLGKKEKYIRLSCDTDAE
1:228346574-228346574 C>T	0.0	4324	COLON	-	-	-	-	GJC2	uc021pkg.1,p.S372L|ENST00000366714,p.S372L|NM_020435,p.S372L|uc001hsk.3,p.S372L	protein_coding	uc021pkg.1	nonsynonymous SNV	exon1	c.C1115T	p.S372L	DGAAAGDRDRDSSPCVGLPAASRGP	DGAAAGDRDRDSLPCVGLPAASRGP	3.0	9.0	-	-	4324_1:228346574-228346574 C>T_DGAAAGDRDRDSLPCVGLPAASRGP
6:34003798-34003798 C>T	0.0	4324	COLON	-	-	-	-	GRM4	ENST00000455714,p.A557T|uc010jvh.4,p.A697T|ENST00000538487,p.A697T|ENST00000544773,p.A528T|NM_001256813,p.A564T|uc031som.1,p.A581T|NM_001256811,p.A650T|uc011dsl.3,p.A557T|NM_001256809,p.A581T|ENST00000545715,p.A389T|uc003oio.4,p.A389T|NM_001282847,p.A389T|uc011dsn.3,p.A650T|uc010jvi.4,p.A389T|NM_001256812,p.A528T|ENST00000374181,p.A697T|uc003oiq.4,p.A564T|NM_000841,p.A697T|uc011dsm.3,p.A528T|ENST00000374177,p.A581T|ENST00000535756,p.A564T|uc031sol.1,p.A389T	protein_coding	uc031som.1	nonsynonymous SNV	exon7	c.G1741A	p.A581T	KRSVSAPRFISPASQLAITFSLISL	KRSVSAPRFISPTSQLAITFSLISL	2.0	6.0	-	-	4324_6:34003798-34003798 C>T_KRSVSAPRFISPTSQLAITFSLISL
X:24735810-24735810 C>A	0.0	4324	COLON	-	-	-	-	POLA1	uc004dbl.3,p.A335E|ENST00000379068,p.A341E|NM_016937,p.A335E|uc004dbm.3,p.A341E|ENST00000379059,p.A335E	protein_coding, processed_transcript	uc004dbm.3	nonsynonymous SNV	exon10	c.C1022A	p.A341E	QVDSSHLPLVKGADEEQVFHFYWLD	QVDSSHLPLVKGEDEEQVFHFYWLD	7.0	4.0	-	-	4324_X:24735810-24735810 C>A_QVDSSHLPLVKGEDEEQVFHFYWLD
10:126370234-126370234 C>T	1.0	4324	COLON	-	-	-	-	FAM53B	ENST00000280780,p.R283Q|NM_014661,p.R283Q|ENST00000337318,p.R283Q|uc001lhw.3,p.R283Q|ENST00000392754,p.R283Q|uc001lhu.1,p.R283Q|uc001lhv.1,p.R283Q	protein_coding	uc001lhw.3	nonsynonymous SNV	exon4	c.G848A	p.R283Q	CVLNDKKVGVKRRRPEEVQEQRPSL	CVLNDKKVGVKRQRPEEVQEQRPSL	6.0	5.0	-	-	4324_10:126370234-126370234 C>T_CVLNDKKVGVKRQRPEEVQEQRPSL
20:57767849-57767849 C>T	0.0	4324	COLON	-	-	ID=COSM1736446;OCCURENCE=1(central_nervous_system)	-	ZNF831	NM_178457,p.A592V|ENST00000371030,p.A592V|uc002yan.3,p.A592V	protein_coding	uc002yan.3	nonsynonymous SNV	exon1	c.C1775T	p.A592V	VPAEDTDAKRTAAREAMAGKGRAGG	VPAEDTDAKRTAVREAMAGKGRAGG	3.0	3.0	-	-	4324_20:57767849-57767849 C>T_VPAEDTDAKRTAVREAMAGKGRAGG
16:46774049-46774049 C>G	0.0	4324	COLON	-	-	-	-	MYLK3	ENST00000394809,p.R163P|NM_182493,p.R163P|uc002eei.4,p.R163P	retained_intron, protein_coding, processed_transcript	uc002eei.4	nonsynonymous SNV	exon2	c.G488C	p.R163P	GSPGDSPEENKERVEEEGGKPKHVL	GSPGDSPEENKEPVEEEGGKPKHVL	3.0	8.0	-	-	4324_16:46774049-46774049 C>G_GSPGDSPEENKEPVEEEGGKPKHVL
5:153056650-153056650 G>T	0.0	4324	COLON	-	-	-	-	GRIA1	ENST00000285900,p.A320S|uc011dcy.2,p.A330S|uc003luy.4,p.A320S|NM_000827,p.A320S|NM_001258023,p.A251S|ENST00000340592,p.A320S|NM_001258020,p.A225S|uc011dcz.2,p.A330S|uc010jia.1,p.A300S|ENST00000448073,p.A330S|uc003lva.4,p.A320S|NM_001258022,p.A330S|NM_001258019,p.A240S|uc003luz.4,p.A225S|ENST00000518142,p.A240S|NM_001258021,p.A330S|uc011dcw.2,p.A240S|NM_001114183,p.A320S|uc011dcx.2,p.A251S|ENST00000518783,p.A330S|ENST00000521843,p.A251S	retained_intron, protein_coding, processed_transcript	uc011dcz.2	nonsynonymous SNV	exon7	c.G988T	p.A330S	RRQRIDISRRGNAGDCLANPAVPWG	RRQRIDISRRGNSGDCLANPAVPWG	5.0	6.0	-	-	4324_5:153056650-153056650 G>T_RRQRIDISRRGNSGDCLANPAVPWG
9:33385165-33385165 A>G	0.0	4324	COLON	-	rs3569	ID=COSM4007135;OCCURENCE=1(urinary_tract),4(thyroid)	-	AQP7	ENST00000377425,p.F213L|ENST00000447660,p.F138L|uc003zsu.1,p.F213L	protein_coding, processed_transcript	uc003zsu.1	nonsynonymous SNV	exon7	c.T637C	p.F213L	LHHPTGAPEIGGFCGV	LHHPTGAPEIGGLCGV	5.0	1.0	-	-	4324_9:33385165-33385165 A>G_LHHPTGAPEIGGLCGV
1:180885378-180885378 G>A	0.0	4324	COLON	-	-	-	-	KIAA1614	uc001gok.2,p.G47R|ENST00000367588,p.G47R|NM_020950,p.G47R	protein_coding, processed_transcript	uc001gok.2	nonsynonymous SNV	exon2	c.G139A	p.G47R	VEWSGPEPQLDNGHPPRPWPCPQEN	VEWSGPEPQLDNRHPPRPWPCPQEN	2.0	6.0	-	-	4324_1:180885378-180885378 G>A_VEWSGPEPQLDNRHPPRPWPCPQEN
15:75562484-75562484 G>A	0.0	4324	COLON	-	-	ID=COSM336052;OCCURENCE=1(lung)	-	GOLGA6C	uc002azs.2,p.D676N|ENST00000300576,p.D676N|NM_001164404,p.D676N	protein_coding	uc002azs.2	nonsynonymous SNV	exon18	c.G2026A	p.D676N	PAPGAAREGSPHDNPPVQQIVQLSP	PAPGAAREGSPHNNPPVQQIVQLSP	2.0	2.0	-	-	4324_15:75562484-75562484 G>A_PAPGAAREGSPHNNPPVQQIVQLSP
19:8650413-8650413 G>A	0.0	4324	COLON	-	-	-	-	ADAMTS10	uc002mkk.1,p.P563L|NM_030957,p.P931L|uc002mkj.1,p.P931L|ENST00000597188,p.P931L|ENST00000595838,p.P418L|ENST00000270328,p.P931L|NM_001282352,p.P418L|uc002mki.1,p.P418L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkk.1	nonsynonymous SNV	exon22	c.C1688T	p.P563L	EEKALDDSACPQPRPPVLEACHGPT	EEKALDDSACPQLRPPVLEACHGPT	5.0	3.0	-	-	4324_19:8650413-8650413 G>A_EEKALDDSACPQLRPPVLEACHGPT
15:55838861-55838861 C>A	0.0	4324	COLON	-	-	-	-	PYGO1	NM_015617,p.G207V|uc002adf.1,p.G207V|ENST00000563719,p.G207V|ENST00000302000,p.G207V|uc010bfl.1,p.G207V	protein_coding	uc010bfl.1	nonsynonymous SNV	exon3	c.G620T	p.G207V	VSNPDLASNFVPGNNSNFTSPLESN	VSNPDLASNFVPVNNSNFTSPLESN	4.0	1.0	-	-	4324_15:55838861-55838861 C>A_VSNPDLASNFVPVNNSNFTSPLESN
1:152128610-152128610 G>A	0.0	4324	COLON	-	-	-	-	RPTN	ENST00000316073,p.T322M|NM_001122965,p.T322M|uc001ezs.1,p.T322M	protein_coding	uc001ezs.1	nonsynonymous SNV	exon3	c.C965T	p.T322M	TDRQGQSSHYSQTDRQGQSSHYSQP	TDRQGQSSHYSQMDRQGQSSHYSQP	3.0	4.0	-	-	4324_1:152128610-152128610 G>A_TDRQGQSSHYSQMDRQGQSSHYSQP
X:8434158-8434158 G>C	1.0	4324	COLON	-	-	-	-	VCX3B	ENST00000453306,p.E159Q|uc011mht.2,p.E159Q|NM_001001888,p.E159Q|ENST00000381032,p.E159Q	protein_coding	uc011mht.2	nonsynonymous SNV	exon3	c.G475C	p.E159Q	ESQVEEPLSQESEVEEPLSQESEVE	ESQVEEPLSQESQVEEPLSQESEVE	6.0	2.0	-	-	4324_X:8434158-8434158 G>C_ESQVEEPLSQESQVEEPLSQESEVE
X:154158437-154158437 C>-	0.0	4324	COLON	-	-	-	-	F8	uc004fmt.3,p.E1210fs|NM_000132,p.E1210fs|ENST00000360256,p.E1210fs	protein_coding, processed_transcript	uc004fmt.3	frameshift deletion	exon14	c.3628delG	p.E1210fs	LDNLHENNTHNQEKKIQEEIEKKET	LDNLHENNTHNQKKKFRKK	5.0	3.0	-	-	4324_X:154158437-154158437 C>-_LDNLHENNTHNQKKKFRKK
3:50413406-50413406 C>G	0.0	4324	COLON	-	-	-	-	CACNA2D2	ENST00000423994,p.E587D|ENST00000395083,p.E587D|ENST00000429770,p.E587D|ENST00000360963,p.E518D|NM_001005505,p.E587D|uc003dap.3,p.E587D|ENST00000479441,p.E587D|NM_001174051,p.E587D|ENST00000266039,p.E587D|NM_001291101,p.E518D|NM_006030,p.E587D|ENST00000435965,p.E587D|ENST00000424201,p.E587D|uc003daq.3,p.E587D	retained_intron, protein_coding, processed_transcript	uc003daq.3	nonsynonymous SNV	exon19	c.G1761C	p.E587D	VTLDFLDAELEDENKEEIRRSMIDG	VTLDFLDAELEDDNKEEIRRSMIDG	6.0	3.0	-	-	4324_3:50413406-50413406 C>G_VTLDFLDAELEDDNKEEIRRSMIDG
X:96684666-96684666 G>T	1.0	4338	COLON	-	-	-	-	DIAPH2	uc004efu.4,p.V1055L|NM_007309,p.V1055L|ENST00000373049,p.V1055L|ENST00000355827,p.V1055L|NM_006729,p.V1055L|ENST00000373054,p.V1051L|ENST00000373061,p.V1055L|uc004eft.4,p.V1055L|ENST00000324765,p.V1055L	protein_coding	uc004efu.4	nonsynonymous SNV	exon26	c.G3163T	p.V1055L	LIDINKEGDETGVMDNLLEALQSGA	LIDINKEGDETGLMDNLLEALQSGA	8.0	7.0	-	-	4338_X:96684666-96684666 G>T_LIDINKEGDETGLMDNLLEALQSGA
6:26217383-26217383 G>C	1.0	4338	COLON	-	-	ID=COSM1545797;OCCURENCE=1(lung)	-	HIST1H2AE	NM_021052,p.A61P|uc003nha.1,p.A61P|ENST00000303910,p.A61P	protein_coding	uc003nha.1	nonsynonymous SNV	exon1	c.G181C	p.A61P	PVYLAAVLEYLTAEILELAGNAARD	PVYLAAVLEYLTPEILELAGNAARD	10.0	9.0	CD8	-	4338_6:26217383-26217383 G>C_PVYLAAVLEYLTPEILELAGNAARD
15:51742408-51742408 G>A	1.0	4338	COLON	-	-	-	-	DMXL2	NM_001174116,p.A2941V|uc010ufy.2,p.A2941V|NM_001174117,p.A2304V|ENST00000543779,p.A2941V|ENST00000251076,p.A2940V|uc010bfa.3,p.A2304V|uc002abd.3,p.A1032V|ENST00000449909,p.A2304V|NM_015263,p.A2940V|uc002abf.3,p.A2940V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ufy.2	nonsynonymous SNV	exon42	c.C8822T	p.A2941V	DIRQRQLIHTFQAHDSAIKALALDP	DIRQRQLIHTFQVHDSAIKALALDP	8.0	4.0	-	-	4338_15:51742408-51742408 G>A_DIRQRQLIHTFQVHDSAIKALALDP
13:103504561-103504561 G>A	1.0	4338	COLON	-	-	-	1	BIVM-ERCC5,ERCC5	uc010tjb.2,p.R61Q|NM_001204425,p.R515Q|ENST00000535557,p.R61Q|uc001vpw.3,p.R61Q|NM_000123,p.R61Q|ENST00000355739,p.R61Q|uc001vpu.2,p.R515Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tjb.2	nonsynonymous SNV	exon2	c.G182A	p.R61Q	SIENPHLLTLFHRLCKLLFFRIRPI	SIENPHLLTLFHQLCKLLFFRIRPI	8.0	2.0	-	-	4338_13:103504561-103504561 G>A_SIENPHLLTLFHQLCKLLFFRIRPI
14:95660880-95660880 G>A	1.0	4338	COLON	0.0005	-	-	-	CLMN	NM_024734,p.S921L|ENST00000298912,p.S921L|uc001yef.2,p.S921L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001yef.2	nonsynonymous SNV	exon11	c.C2762T	p.S921L	SSIYLRRHTHRSSESDHFSYVQLRN	SSIYLRRHTHRSLESDHFSYVQLRN	8.0	5.0	-	-	4338_14:95660880-95660880 G>A_SSIYLRRHTHRSLESDHFSYVQLRN
5:150073720-150073720 G>A	1.0	4338	COLON	-	-	-	-	RBM22	uc003lst.3,p.R277W|ENST00000199814,p.R277W|ENST00000447771,p.R228W|NM_018047,p.R277W|ENST00000540000,p.R228W	retained_intron, protein_coding	uc003lst.3	nonsynonymous SNV	exon8	c.C829T	p.R277W	QRQQCAFIQFATRQAAEVAAEKSFN	QRQQCAFIQFATWQAAEVAAEKSFN	8.0	7.0	-	-	4338_5:150073720-150073720 G>A_QRQQCAFIQFATWQAAEVAAEKSFN
18:48591852-48591852 T>G	1.0	4338	COLON	-	-	-	1	SMAD4	ENST00000398417,p.F339V|uc002lfb.4,p.F184V|ENST00000588745,p.F243V|NM_005359,p.F339V|ENST00000342988,p.F339V|uc010xdp.2,p.F339V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdp.2	nonsynonymous SNV	exon9	c.T1015G	p.F339V	AYFEMDVQVGETFKVPSSCPIVTVD	AYFEMDVQVGETVKVPSSCPIVTVD	10.0	8.0	-	-	4338_18:48591852-48591852 T>G_AYFEMDVQVGETVKVPSSCPIVTVD
5:82815849-82815849 A>T	0.0	4338	COLON	-	-	-	-	VCAN	uc010jau.2,p.Q575L|NM_001164098,p.Q575L|ENST00000512590,p.Q527L|uc003kii.3,p.Q575L|NM_004385,p.Q575L|ENST00000265077,p.Q575L|ENST00000342785,p.Q575L	retained_intron, protein_coding, processed_transcript	uc010jau.2	nonsynonymous SNV	exon7	c.C1723T, c.A1724T	p.Q575L	TVGSDESTLIFDQIPEVITVSKTSE	TVGSDESTLIFDLIPEVITVSKTSE	10.0	2.0	-	Additional variant within 36 nucleotides, merged with 5:82815849-82815849 A>T, residue 13 Q>L PR	4338_5:82815849-82815849 A>T_TVGSDESTLIFDLIPEVITVSKTSE
4:85695982-85695982 T>C	1.0	4338	COLON	-	-	-	-	WDFY3	NM_014991,p.D1582G|ENST00000295888,p.D1582G|uc003hpd.3,p.D1582G|ENST00000322366,p.D1582G	retained_intron, protein_coding, processed_transcript	uc003hpd.3	nonsynonymous SNV	exon29	c.A4745G	p.D1582G	LSFLLQGFPSSNDLLRFGQFISSTL	LSFLLQGFPSSNGLLRFGQFISSTL	8.0	9.0	-	-	4338_4:85695982-85695982 T>C_LSFLLQGFPSSNGLLRFGQFISSTL
1:53364884-53364884 C>T	1.0	4338	COLON	-	-	-	-	ECHDC2	uc001cun.3,p.V162M|uc001cup.4,p.V239M|ENST00000358358,p.V208M|ENST00000536120,p.V193M|ENST00000371522,p.V239M|NM_001198961,p.V239M|uc010onk.2,p.V193M|NM_018281,p.V208M|uc001cuo.4,p.V208M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010onk.2	nonsynonymous SNV	exon11	c.G577A	p.V193M	LAQEILPQAPIAVRLGKVAIDRGTE	LAQEILPQAPIAMRLGKVAIDRGTE	9.0	5.0	-	-	4338_1:53364884-53364884 C>T_LAQEILPQAPIAMRLGKVAIDRGTE
6:27860609-27860609 C>G	1.0	4338	COLON	-	-	-	-	HIST1H2AM	NM_003514,p.G107R|uc003nkb.1,p.G107R|ENST00000359611,p.G107R	protein_coding	uc003nkb.1	nonsynonymous SNV	exon1	c.G319C	p.G107R	NKLLGKVTIAQGGVLPNIQAVLLPK	NKLLGKVTIAQGRVLPNIQAVLLPK	10.0	1.0	-	-	4338_6:27860609-27860609 C>G_NKLLGKVTIAQGRVLPNIQAVLLPK
16:22546129-22546129 T>A	1.0	4338	COLON	-	-	-	-	NPIPB5	uc010bxk.3,p.Y426N|ENST00000517539,p.Y609N|uc021tew.1,p.Y609N|uc010vbv.2,p.Y609N|NM_001135865,p.Y609N|uc010bxg.3,p.Y609N|ENST00000424340,p.Y609N|uc010bxi.3,p.Y590N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tew.1	nonsynonymous SNV	exon8	c.T1825A	p.Y609N	PQLHPQQMIISRYLLSVCGFRFHHQ	PQLHPQQMIISRNLLSVCGFRFHHQ	10.0	1.0	-	-	4338_16:22546129-22546129 T>A_PQLHPQQMIISRNLLSVCGFRFHHQ
18:48593406-48593406 G>T	1.0	4338	COLON	-	-	ID=COSM1172551;OCCURENCE=1(small_intestine),1(large_intestine),1(oesophagus),1(lung)	1	SMAD4	NM_005359,p.G386V|ENST00000398417,p.G386V|ENST00000588745,p.G290V|ENST00000342988,p.G386V|uc002lfb.4,p.G231V|uc010xdp.2,p.G386V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdp.2	nonsynonymous SNV	exon10	c.G1157T	p.G386V	EAIERARLHIGKGVQLECKGEGDVW	EAIERARLHIGKVVQLECKGEGDVW	10.0	9.0	-	-	4338_18:48593406-48593406 G>T_EAIERARLHIGKVVQLECKGEGDVW
3:50357676-50357676 C>T	1.0	4338	COLON	-	-	-	-	HYAL2	uc003czx.3,p.R82H|uc003czv.3,p.R82H|uc010hlj.2,p.R82H|ENST00000458018,p.R82H|uc003czw.3,p.R82H|ENST00000442581,p.R82H|ENST00000447092,p.R82H|NM_003773,p.R82H|ENST00000395139,p.R82H|ENST00000357750,p.R82H|ENST00000424190,p.R82H|NM_033158,p.R82H	retained_intron, protein_coding	uc010hlj.2	nonsynonymous SNV	exon2	c.G245A	p.R82H	FVNQNITIFYRDRLGLYPRFDSAGR	FVNQNITIFYRDHLGLYPRFDSAGR	8.0	4.0	-	-	4338_3:50357676-50357676 C>T_FVNQNITIFYRDHLGLYPRFDSAGR
19:1085958-1085958 C>T	1.0	4338	COLON	-	-	-	-	HMHA1	NM_012292,p.R1122W|NM_001282335,p.R1005W|uc010xge.2,p.R990W|uc002lrc.2,p.R757W|NM_001258328,p.R1138W|uc002lrb.1,p.R1005W|ENST00000590214,p.R1149W|uc002lqz.2,p.R1122W|ENST00000586866,p.R1126W|ENST00000539243,p.R1138W|ENST00000313093,p.R1122W|ENST00000543365,p.R1005W|NM_001282334,p.R757W|uc002lra.1,p.R962W|ENST00000536472,p.R990W|uc010xgd.2,p.R1138W|ENST00000590577,p.R757W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xge.2	nonsynonymous SNV	exon21	c.C2968T	p.R990W	QAPLPPMRLRGGRMTLGSCRERQPE	QAPLPPMRLRGGWMTLGSCRERQPE	7.0	4.0	-	-	4338_19:1085958-1085958 C>T_QAPLPPMRLRGGWMTLGSCRERQPE
20:39791354-39791354 G>A	1.0	4338	COLON	-	-	-	1	PLCG1	ENST00000244007,p.A224T|ENST00000373271,p.A224T|uc002xjp.1,p.A224T|ENST00000373272,p.A224T|NM_182811,p.A224T|NM_002660,p.A224T|uc002xjo.1,p.A224T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002xjp.1	nonsynonymous SNV	exon6	c.G670A	p.A224T	QFAQLYRSLMYSAQKTMDLPFLEAS	QFAQLYRSLMYSTQKTMDLPFLEAS	9.0	10.0	-	-	4338_20:39791354-39791354 G>A_QFAQLYRSLMYSTQKTMDLPFLEAS
12:10766116-10766116 C>T	1.0	4338	COLON	-	-	-	-	MAGOHB	uc001qyq.2,p.D6N|ENST00000381881,p.D6N|ENST00000320756,p.D6N|ENST00000544850,p.D6N|ENST00000546173,p.D6N|ENST00000543929,p.D6N|NM_018048,p.D6N|ENST00000545236,p.D6N	retained_intron, protein_coding, nonsense_mediated_decay	uc001qyq.2	nonsynonymous SNV	exon1	c.G16A	p.D6N	MAVASDFYLRYYVGHKGK	MAVASNFYLRYYVGHKGK	8.0	6.0	-	-	4338_12:10766116-10766116 C>T_MAVASNFYLRYYVGHKGK
8:71619190-71619190 G>A	1.0	4338	COLON	-	-	-	-	XKR9	ENST00000408926,p.G99S|uc003xyq.3,p.G99S|NM_001287260,p.G99S|NM_001287259,p.G99S|uc010lze.3,p.G99S|ENST00000520030,p.G99S|NM_001011720,p.G99S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lze.3	nonsynonymous SNV	exon5	c.G295A	p.G99S	GVFTRYWFALKRGYHAAFKYDSNTS	GVFTRYWFALKRSYHAAFKYDSNTS	5.0	9.0	-	-	4338_8:71619190-71619190 G>A_GVFTRYWFALKRSYHAAFKYDSNTS
16:69752376-69752378 CTT>-	1.0	4338	COLON	-	-	-	-	NQO1	NM_001025433,p.23_23del|ENST00000320623,p.23_23del|NM_000903,p.23_23del|ENST00000561500,p.23_23del|ENST00000379046,p.23_23del|NM_001025434,p.23_23del|ENST00000439109,p.23_23del|uc002exp.3,p.23_23del|uc002exr.3,p.23_23del|uc010vll.2,p.23_23del|ENST00000379047,p.23_23del|uc002exq.3,p.23_23del|NM_001286137,p.23_23del	retained_intron, protein_coding	uc010vll.2	nonframeshift deletion	exon2	c.67_69del	p.23_23del	AHSERTSFNYAMKEAAAAALKKKGWE	AHSERTSFNYAMEAAAAALKKKGWE	10.0	1.0	-	-	4338_16:69752376-69752378 CTT>-_AHSERTSFNYAMEAAAAALKKKGWE
3:127775662-127775662 C>G	1.0	4338	COLON	-	-	-	-	SEC61A1	uc003ekc.3,p.L58V|uc003ekb.3,p.L111V|ENST00000481210,p.L58V|ENST00000464451,p.L117V|NM_013336,p.L111V|ENST00000243253,p.L111V	retained_intron, protein_coding, processed_transcript	uc003ekc.3	nonsynonymous SNV	exon5	c.C172G	p.L58V	IIEVGDTPKDRALFNGAQKLFGMII	IIEVGDTPKDRAVFNGAQKLFGMII	10.0	4.0	-	-	4338_3:127775662-127775662 C>G_IIEVGDTPKDRAVFNGAQKLFGMII
16:23700039-23700039 G>C	1.0	4338	COLON	-	-	-	-	PLK1	uc002dlz.1,p.V415L|ENST00000300093,p.V415L|NM_005030,p.V415L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dlz.1	nonsynonymous SNV	exon7	c.G1243C	p.V415L	PACIPIFWVSKWVDYSDKYGLGYQL	PACIPIFWVSKWLDYSDKYGLGYQL	8.0	7.0	-	-	4338_16:23700039-23700039 G>C_PACIPIFWVSKWLDYSDKYGLGYQL
14:105246551-105246551 C>T	1.0	4338	COLON	-	-	ID=COSM33765;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),10(thyroid),15(lung),46(meninges),2(NS),1(upper_aerodigestive_tract),12(bone),1(central_nervous_system),1(thymus),16(urinary_tract),4(prostate),13(large_intestine),75(breast),53(skin),15(endometrium),2(ovary),7(soft_tissue)	1	AKT1	uc001ypm.3,p.E17K|ENST00000554848,p.E17K|ENST00000554581,p.E17K|uc001ypk.3,p.E17K|NM_001014431,p.E17K|ENST00000407796,p.E17K|ENST00000349310,p.E17K|uc001ypl.3,p.E17K|NM_001014432,p.E17K|ENST00000555926,p.E17K|ENST00000555528,p.E17K|uc010axa.3,p.E17K|uc001ypn.3,p.E17K|ENST00000402615,p.E17K|NM_005163,p.E17K	retained_intron, protein_coding, processed_transcript	uc010axa.3	nonsynonymous SNV	exon3	c.G49A	p.E17K	AIVKEGWLHKRGEYIKTWRPRYFLL	AIVKEGWLHKRGKYIKTWRPRYFLL	10.0	10.0	-	-	4338_14:105246551-105246551 C>T_AIVKEGWLHKRGKYIKTWRPRYFLL
9:27062693-27062693 A>G	1.0	4338	COLON	-	-	-	-	IFT74	ENST00000433700,p.K588E|NM_001099222,p.K588E|ENST00000380062,p.K588E|uc010mja.3,p.K588E|NM_025103,p.K588E|uc010mjb.3,p.K588E|uc003zqg.4,p.K588E|NM_001099223,p.K588E|ENST00000443698,p.K588E	retained_intron, protein_coding	uc010mjb.3	nonsynonymous SNV	exon20	c.A1762G	p.K588E	KKNVTKQIAEYNKTIVDALHSTSGN	KKNVTKQIAEYNETIVDALHSTSGN	5.0	10.0	-	-	4338_9:27062693-27062693 A>G_KKNVTKQIAEYNETIVDALHSTSGN
11:118635988-118635988 C>T	1.0	4338	COLON	-	-	-	1	DDX6	uc001pub.2,p.G192E|NM_004397,p.G192E|NM_001257191,p.G192E|ENST00000534980,p.G192E|ENST00000264018,p.G192E|uc001puc.2,p.G192E|ENST00000526070,p.G192E	retained_intron, protein_coding	uc001puc.2	nonsynonymous SNV	exon6	c.G575A	p.G192E	VSQICIQVSKHMGGAKVMATTGGTN	VSQICIQVSKHMEGAKVMATTGGTN	9.0	5.0	-	-	4338_11:118635988-118635988 C>T_VSQICIQVSKHMEGAKVMATTGGTN
7:148950796-148950796 C>T	1.0	4338	COLON	-	-	-	-	ZNF212	NM_012256,p.L260F|ENST00000335870,p.L260F|uc003wfp.3,p.L260F	protein_coding, nonsense_mediated_decay	uc003wfp.3	nonsynonymous SNV	exon5	c.C778T	p.L260F	QTELWGGQGSSVLLETGPGDSTLEE	QTELWGGQGSSVFLETGPGDSTLEE	6.0	9.0	-	-	4338_7:148950796-148950796 C>T_QTELWGGQGSSVFLETGPGDSTLEE
19:11891976-11891976 C>T	1.0	4338	COLON	-	-	-	-	ZNF441	ENST00000357901,p.P446L|ENST00000454339,p.P379L|uc002msn.4,p.P402L|NM_152355,p.P446L|uc010dyj.3,p.P446L	retained_intron, protein_coding, nonsense_mediated_decay	uc010dyj.3	nonsynonymous SNV	exon4	c.C1337T	p.P446L	LQIHERIHTGERPYKCKQCGKAFRS	LQIHERIHTGERLYKCKQCGKAFRS	6.0	5.0	-	-	4338_19:11891976-11891976 C>T_LQIHERIHTGERLYKCKQCGKAFRS
15:44914112-44914112 T>C	1.0	4338	COLON	-	-	-	-	SPG11	uc001ztx.3,p.D822G|ENST00000558319,p.D822G|ENST00000535302,p.D822G|uc010ueh.2,p.D822G|ENST00000427534,p.D822G|NM_025137,p.D822G|ENST00000261866,p.D822G|NM_001160227,p.D822G|uc010uei.2,p.D822G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010uei.2	nonsynonymous SNV	exon14	c.A2465G	p.D822G	IQSFPRYWIKEQDFFKHKSVLDSFL	IQSFPRYWIKEQGFFKHKSVLDSFL	10.0	5.0	-	-	4338_15:44914112-44914112 T>C_IQSFPRYWIKEQGFFKHKSVLDSFL
19:39944012-39944012 G>A	1.0	4338	COLON	-	-	ID=COSM996353;OCCURENCE=1(endometrium)	-	SUPT5H	uc002olr.4,p.R31Q|NM_003169,p.R31Q|ENST00000594990,p.R31Q|ENST00000598725,p.R31Q|ENST00000432763,p.R31Q|NM_001111020,p.R31Q|ENST00000359191,p.R31Q|ENST00000594729,p.R31Q|ENST00000599117,p.R31Q|uc010xvb.1,p.R31Q|NM_001130824,p.R31Q|uc002olo.4,p.R31Q|uc002oln.4,p.R31Q|ENST00000402194,p.R31Q|uc002olq.4,p.R31Q|ENST00000601515,p.R31Q|uc002olp.4,p.R31Q|NM_001130825,p.R31Q	retained_intron, protein_coding	uc010xvb.1	nonsynonymous SNV	exon3	c.G92A	p.R31Q	SDGEEAEVDEERRSAAGSEKEEEPE	SDGEEAEVDEERQSAAGSEKEEEPE	10.0	10.0	-	-	4338_19:39944012-39944012 G>A_SDGEEAEVDEERQSAAGSEKEEEPE
2:148674979-148674979 C>T	1.0	4338	COLON	-	-	-	1	ACVR2A	uc002twh.3,p.T267I|ENST00000535787,p.T159I|uc010zbn.2,p.T159I|ENST00000404590,p.T267I|ENST00000241416,p.T267I|uc002twg.3,p.T267I|NM_001278580,p.T159I|NM_001278579,p.T267I|NM_001616,p.T267I	retained_intron, protein_coding, processed_transcript	uc010zbn.2	nonsynonymous SNV	exon6	c.C476T	p.T159I	RGTSVDVDLWLITAFHEKGSLSDFL	RGTSVDVDLWLIIAFHEKGSLSDFL	6.0	9.0	-	-	4338_2:148674979-148674979 C>T_RGTSVDVDLWLIIAFHEKGSLSDFL
4:154702847-154702847 T>C	0.0	4338	COLON	-	-	-	-	SFRP2	NM_003013,p.E215G|uc003inv.1,p.E215G|ENST00000274063,p.E215G	protein_coding	uc003inv.1	nonsynonymous SNV	exon3	c.A644G	p.E215G	ITYINRDTKIILETKSKTIYKLNGV	ITYINRDTKIILGTKSKTIYKLNGV	8.0	5.0	-	-	4338_4:154702847-154702847 T>C_ITYINRDTKIILGTKSKTIYKLNGV
21:47831455-47831455 G>A	1.0	4338	COLON	-	-	-	-	PCNT	uc002zjj.3,p.R1705H|ENST00000359568,p.R1823H|uc002zji.4,p.R1823H|NM_006031,p.R1823H	retained_intron, protein_coding, processed_transcript	uc002zjj.3	nonsynonymous SNV	exon28	c.G5114A	p.R1705H	RRHSQALEALQQRLQGAEEAAELQL	RRHSQALEALQQHLQGAEEAAELQL	9.0	6.0	-	-	4338_21:47831455-47831455 G>A_RRHSQALEALQQHLQGAEEAAELQL
22:37578524-37578524 C>T	1.0	4338	COLON	-	-	ID=COSM1416115;OCCURENCE=1(large_intestine)	-	C1QTNF6	uc003aqw.1,p.G162S|ENST00000397110,p.G181S|uc003aqx.1,p.G181S|ENST00000255836,p.G57S|NM_031910,p.G181S|uc003aqy.1,p.G181S|ENST00000337843,p.G181S|NM_182486,p.G181S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003aqy.1	nonsynonymous SNV	exon3	c.G541A	p.G181S	FVNLDGCFDMATGQFAAPLRGIYFF	FVNLDGCFDMATSQFAAPLRGIYFF	5.0	6.0	-	CD4 epitope?	4338_22:37578524-37578524 C>T_FVNLDGCFDMATSQFAAPLRGIYFF
4:69535834-69535834 G>A	0.0	4338	COLON	-	-	-	-	UGT2B15	uc021xow.1,p.P168L|NM_001076,p.P168L|ENST00000338206,p.P168L	protein_coding	uc021xow.1	nonsynonymous SNV	exon1	c.C503T	p.P168L	PCGELLAELFNIPFLYSLRFSVGYT	PCGELLAELFNILFLYSLRFSVGYT	5.0	8.0	-	-	4338_4:69535834-69535834 G>A_PCGELLAELFNILFLYSLRFSVGYT
14:105411413-105411413 G>T	1.0	4338	COLON	-	-	-	-	AHNAK2	uc001ypx.2,p.L3359M|NM_138420,p.L3459M|ENST00000333244,p.L3459M|uc010axc.1,p.L3459M	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.C10375A	p.L3459M	RAKLDGARLEGDLSLAEKDVTAKDS	RAKLDGARLEGDMSLAEKDVTAKDS	10.0	10.0	-	-	4338_14:105411413-105411413 G>T_RAKLDGARLEGDMSLAEKDVTAKDS
17:7189763-7189763 G>A	1.0	4338	COLON	-	-	-	-	SLC2A4	NM_001042,p.V449I|uc002gfp.3,p.V449I|ENST00000317370,p.V449I	protein_coding, nonsense_mediated_decay	uc002gfp.3	nonsynonymous SNV	exon11	c.G1345A	p.V449I	GFQYVAEAMGPYVFLLFAVLLLGFF	GFQYVAEAMGPYIFLLFAVLLLGFF	4.0	9.0	-	-	4338_17:7189763-7189763 G>A_GFQYVAEAMGPYIFLLFAVLLLGFF
12:104487267-104487267 T>-	0.0	4338	COLON	-	-	-	-	HCFC2	ENST00000229330,p.I463fs|uc001tkj.4,p.I463fs|NM_013320,p.I463fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tkj.4	frameshift deletion	exon10	c.1388delT	p.I463fs	KPDFKALTDSNAILYPSLASNASNHN	KPDFKALTDSNAIYIHLWHQMLLIIIVMWWIC	5.0	8.0	-	-	4338_12:104487267-104487267 T>-_KPDFKALTDSNAIYIHLWHQMLLIIIVMWWIC
5:169507265-169507265 C>G	0.0	4338	COLON	-	-	-	-	DOCK2	ENST00000540750,p.S816R|ENST00000256935,p.S1755R|uc010jjm.3,p.S1247R|uc003mah.3,p.S311R|NM_004946,p.S1755R|ENST00000520908,p.S1247R|uc003maf.3,p.S1755R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jjm.3	nonsynonymous SNV	exon36	c.C3741G	p.S1247R	LKASVLSQMSFASQSMPTIPALALS	LKASVLSQMSFARQSMPTIPALALS	9.0	4.0	-	-	4338_5:169507265-169507265 C>G_LKASVLSQMSFARQSMPTIPALALS
6:155577944-155577944 G>A	1.0	4338	COLON	-	-	-	-	TIAM2	ENST00000456877,p.E911K|NM_001010927,p.E524K|ENST00000456144,p.E1628K|ENST00000360366,p.E1623K|ENST00000367174,p.E975K|uc003qqg.3,p.E911K|ENST00000275246,p.E524K|uc003qqe.3,p.E1599K|NM_012454,p.E1599K|ENST00000528391,p.E943K|uc003qqh.3,p.E524K|uc011efl.1,p.E943K|uc010kjj.3,p.E1161K|ENST00000318981,p.E1599K|uc003qqf.3,p.E975K|ENST00000529824,p.E1628K|ENST00000461783,p.E1599K|uc003qqb.3,p.E1599K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011efl.1	nonsynonymous SNV	exon22	c.G2827A	p.E943K	DIEIQFQRLRISEDPDVHPEAEQQP	DIEIQFQRLRISKDPDVHPEAEQQP	6.0	10.0	-	-	4338_6:155577944-155577944 G>A_DIEIQFQRLRISKDPDVHPEAEQQP
14:24807490-24807490 A>G	0.0	4338	COLON	-	-	-	-	RIPK3	ENST00000216274,p.L210P|uc001wpb.3,p.L210P|NM_006871,p.L210P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wpb.3	nonsynonymous SNV	exon5	c.T629C	p.L210P	ASTASDVYSFGILMWAVLAGREVEL	ASTASDVYSFGIPMWAVLAGREVEL	5.0	8.0	-	-	4338_14:24807490-24807490 A>G_ASTASDVYSFGIPMWAVLAGREVEL
14:24807490-24807490 A>G	0.0	4338	COLON	-	-	-	-	RIPK3	ENST00000554756,p.L210P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000554756	nonsynonymous SNV	exon5	c.T629C	p.L210P	ASTASDVYSFGILMWAVLAGREVEC	ASTASDVYSFGIPMWAVLAGREVEC	5.0	8.0	-	-	4338_14:24807490-24807490 A>G_ASTASDVYSFGIPMWAVLAGREVEC
19:21131948-21131948 G>T	0.0	4338	COLON	-	-	-	-	ZNF85	uc010eco.3,p.A158S|uc031rjy.1,p.A146S|uc002npi.3,p.A151S|NM_001256171,p.A240S|ENST00000328178,p.A210S|NM_001256173,p.A146S|ENST00000345030,p.A177S|ENST00000601023,p.A151S|ENST00000596534,p.A158S|ENST00000595742,p.A158S|uc010ecn.3,p.A145S|uc002npg.4,p.A210S|ENST00000599064,p.A133S|uc031rjx.1,p.A240S|NM_003429,p.A210S	protein_coding	uc031rjy.1	nonsynonymous SNV	exon3	c.G436T	p.A146S	RVNFYKCEECGKAFNWSSTLTKHKR	RVNFYKCEECGKSFNWSSTLTKHKR	8.0	10.0	-	-	4338_19:21131948-21131948 G>T_RVNFYKCEECGKSFNWSSTLTKHKR
18:57022635-57022635 T>G	1.0	4338	COLON	-	-	-	-	LMAN1	ENST00000251047,p.E129D|NM_005570,p.E129D|uc002lhz.3,p.E129D|uc010xek.1,p.E129D	retained_intron, protein_coding, processed_transcript	uc010xek.1	nonsynonymous SNV	exon3	c.A387C	p.E129D	RIGADGLAIWYAENQGLEGPVFGSA	RIGADGLAIWYADNQGLEGPVFGSA	10.0	7.0	-	-	4338_18:57022635-57022635 T>G_RIGADGLAIWYADNQGLEGPVFGSA
4:2083369-2083369 C>T	1.0	4338	COLON	-	-	-	-	POLN	uc010ich.1,p.V299M	retained_intron, protein_coding, processed_transcript	uc010ich.1	nonsynonymous SNV	exon13	c.G895A	p.V299M	LRAQAERQAVNFVVQAQSQHLCVEV	LRAQAERQAVNFMVQAQSQHLCVEV	3.0	10.0	-	-	4338_4:2083369-2083369 C>T_LRAQAERQAVNFMVQAQSQHLCVEV
16:69752048-69752048 G>A	1.0	4338	COLON	-	-	-	-	NQO1	NM_001286137,p.A94V|uc010vll.2,p.A94V|ENST00000439109,p.A94V	retained_intron, protein_coding	uc010vll.2	nonsynonymous SNV	exon3	c.C281T	p.A94V	SPDIVAEQKKLEAADLVIFQSGILH	SPDIVAEQKKLEVADLVIFQSGILH	10.0	3.0	-	-	4338_16:69752048-69752048 G>A_SPDIVAEQKKLEVADLVIFQSGILH
16:69752048-69752048 G>A	1.0	4338	COLON	-	-	-	-	NQO1	NM_001025433,p.A94V|ENST00000320623,p.A94V|NM_000903,p.A94V|uc002exp.3,p.A94V|ENST00000564043,p.A73V|ENST00000379047,p.A94V|uc002exq.3,p.A94V	retained_intron, protein_coding	uc002exq.3	nonsynonymous SNV	exon3	c.C281T	p.A94V	SPDIVAEQKKLEAADLVIFQFPLQW	SPDIVAEQKKLEVADLVIFQFPLQW	10.0	3.0	-	-	4338_16:69752048-69752048 G>A_SPDIVAEQKKLEVADLVIFQFPLQW
4:2083369-2083369 C>T	1.0	4338	COLON	-	-	-	-	POLN	uc010icg.1,p.V215M|ENST00000511885,p.V767M|ENST00000382865,p.V767M|NM_181808,p.V767M|uc003ger.2,p.V767M	retained_intron, protein_coding, processed_transcript	uc010icg.1	nonsynonymous SNV	exon9	c.G643A	p.V215M	LRAQAERQAVNFVVQGSAADLCKLA	LRAQAERQAVNFMVQGSAADLCKLA	3.0	10.0	-	-	4338_4:2083369-2083369 C>T_LRAQAERQAVNFMVQGSAADLCKLA
16:69752048-69752048 G>A	1.0	4338	COLON	-	-	-	-	NQO1	uc002exr.3,p.A94V|ENST00000561500,p.A94V|ENST00000379046,p.A94V|NM_001025434,p.A94V	retained_intron, protein_coding	uc002exr.3	nonsynonymous SNV	exon3	c.C281T	p.A94V	SPDIVAEQKKLEAADLVIFQSKKAV	SPDIVAEQKKLEVADLVIFQSKKAV	10.0	3.0	-	-	4338_16:69752048-69752048 G>A_SPDIVAEQKKLEVADLVIFQSKKAV
1:228345490-228345490 C>T	0.0	4338	COLON	-	-	-	-	GJC2	uc021pkg.1,p.R11W|uc001hsk.3,p.R11W|ENST00000366714,p.R11W|NM_020435,p.R11W	protein_coding	uc021pkg.1	nonsynonymous SNV	exon1	c.C31T	p.R11W	MTNMSWSFLTRLLEEIHNHSTFV	MTNMSWSFLTWLLEEIHNHSTFV	4.0	9.0	-	-	4338_1:228345490-228345490 C>T_MTNMSWSFLTWLLEEIHNHSTFV
12:101573865-101573865 ->ACACC	0.0	4338	COLON	-	-	-	-	SLC5A8	uc001thz.4,p.Y392fs|ENST00000536262,p.Y392fs|NM_145913,p.Y392fs	protein_coding	uc001thz.4	frameshift insertion	exon10	c.1174_1175insGGTGT	p.Y392fs	SLSWISQGMSVVYGALCIGMAALAS	SLSWISQGMSVVWCMEPCVLEWLRWRHLWELCCRQHSAYLVWLVDHLWACSLWAFWFPLPTQLEHLLV	3.0	6.0	-	-	4338_12:101573865-101573865 ->ACACC_SLSWISQGMSVVWCMEPCVLEWLRWRHLWELCCRQHSAYLVWLVDHLWACSLWAFWFPLPTQLEHLLV
7:4008964-4008964 C>T	0.0	4338	COLON	0.0005	-	-	-	SDK1	ENST00000404826,p.A541V|NM_152744,p.A541V|ENST00000389531,p.A541V|uc003smx.3,p.A541V	retained_intron, protein_coding, processed_transcript	uc003smx.3	nonsynonymous SNV	exon11	c.C1622T	p.A541V	RFMLLESGGLQIAPVFIQDAGNYTC	RFMLLESGGLQIVPVFIQDAGNYTC	5.0	8.0	-	-	4338_7:4008964-4008964 C>T_RFMLLESGGLQIVPVFIQDAGNYTC
4:183664440-183664440 A>G	1.0	4338	COLON	-	-	-	-	TENM3	uc003ive.1,p.Q572R|uc003ivd.1,p.Q1166R|ENST00000406950,p.Q1166R|ENST00000511685,p.Q1166R|NM_001080477,p.Q1166R	retained_intron, protein_coding, processed_transcript	uc003ive.1	nonsynonymous SNV	exon11	c.A1715G	p.Q572R	RRRSISCPSCNGQADGNKLLAPVAL	RRRSISCPSCNGRADGNKLLAPVAL	5.0	7.0	-	-	4338_4:183664440-183664440 A>G_RRRSISCPSCNGRADGNKLLAPVAL
1:57161760-57161760 G>A	0.0	4338	COLON	-	-	ID=COSM1738569,COSM1738570;OCCURENCE=1(urinary_tract),1(haematopoietic_and_lymphoid_tissue)	-	PRKAA2	uc031pmr.1,p.R126H|uc031pms.1,p.R126H|ENST00000371244,p.R239H|uc001cyk.4,p.R239H|NM_006252,p.R239H	protein_coding	uc031pms.1	nonsynonymous SNV	exon4	c.G377A	p.R126H	RGGVFYIPEYLNRSVATLLMHMLQV	RGGVFYIPEYLNHSVATLLMHMLQV	1.0	6.0	-	-	4338_1:57161760-57161760 G>A_RGGVFYIPEYLNHSVATLLMHMLQV
19:53384732-53384732 T>C	1.0	4338	COLON	-	-	-	-	ZNF320	ENST00000595635,p.H216R|ENST00000391781,p.H216R|uc002qah.3,p.H162R|uc002qag.3,p.H216R|uc002qai.3,p.H216R|NM_207333,p.H216R	protein_coding, processed_transcript	uc002qai.3	nonsynonymous SNV	exon8	c.A647G	p.H216R	LAKHTRIHRGDKHYTCNECGKVFDQ	LAKHTRIHRGDKRYTCNECGKVFDQ	9.0	3.0	-	-	4338_19:53384732-53384732 T>C_LAKHTRIHRGDKRYTCNECGKVFDQ
12:129360572-129360572 C>T	0.0	4338	COLON	-	-	-	-	GLT1D1	ENST00000441390,p.A61V|ENST00000281703,p.A61V|ENST00000537468,p.A50V|uc010tbh.1,p.A50V|uc001uhx.1,p.A61V|ENST00000413816,p.A54V|ENST00000539044,p.A61V|NM_144669,p.A61V|ENST00000442111,p.A61V	protein_coding, nonsense_mediated_decay	uc010tbh.1	nonsynonymous SNV	exon2	c.C149T	p.A50V	NLILAENCEAALALHLYRGGRLLQG	NLILAENCEAALVLHLYRGGRLLQG	5.0	4.0	-	-	4338_12:129360572-129360572 C>T_NLILAENCEAALVLHLYRGGRLLQG
3:10085194-10085194 G>A	1.0	4338	COLON	-	-	-	1	FANCD2	ENST00000383807,p.G339D|uc003buy.1,p.G339D|NM_033084,p.G339D|ENST00000287647,p.G339D|ENST00000383806,p.G339D|ENST00000419585,p.G339D|NM_001018115,p.G339D|uc003bux.1,p.G339D|uc003buw.3,p.G339D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003buy.1	nonsynonymous SNV	exon13	c.G1016A	p.G339D	GRASSSGNQESSGQSCIILLFDVIK	GRASSSGNQESSDQSCIILLFDVIK	9.0	8.0	-	-	4338_3:10085194-10085194 G>A_GRASSSGNQESSDQSCIILLFDVIK
15:41813218-41813218 G>A	0.0	4338	COLON	-	-	-	-	RPAP1	uc001zod.3,p.R1056C|NM_015540,p.R1056C|ENST00000562303,p.R1056C|ENST00000304330,p.R1056C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zod.3	nonsynonymous SNV	exon22	c.C3166T	p.R1056C	LLAQACQDLPSIRNCYLTHCSPARA	LLAQACQDLPSICNCYLTHCSPARA	6.0	9.0	-	-	4338_15:41813218-41813218 G>A_LLAQACQDLPSICNCYLTHCSPARA
17:66883497-66883497 T>A	0.0	4338	COLON	-	-	-	-	ABCA8	uc010wqq.2,p.T1099S|uc002jhp.3,p.T1059S|ENST00000586539,p.T1099S|NM_007168,p.T1059S|NM_001288985,p.T1099S|NM_001288986,p.T1099S|ENST00000269080,p.T1059S|ENST00000430352,p.T1099S|uc002jhq.3,p.T1099S|uc010wqr.2,p.T1038S	retained_intron, protein_coding, non_stop_decay	uc010wqr.2	nonsynonymous SNV	exon23	c.A3112T	p.T1038S	MSYISNFEDMLLTIIHIIQIPCAVG	MSYISNFEDMLLSIIHIIQIPCAVG	4.0	3.0	-	-	4338_17:66883497-66883497 T>A_MSYISNFEDMLLSIIHIIQIPCAVG
15:63053973-63053973 G>A	1.0	4338	COLON	-	-	-	-	TLN2	NM_015059,p.A1578T|ENST00000494733,p.A492T|ENST00000306829,p.A1578T|ENST00000561311,p.A1578T|uc002alb.4,p.A1578T	retained_intron, protein_coding, processed_transcript	uc002alb.4	nonsynonymous SNV	exon35	c.G4732A	p.A1578T	PLIEAVENLTAFASNPEFVSIPAQI	PLIEAVENLTAFTSNPEFVSIPAQI	5.0	3.0	-	-	4338_15:63053973-63053973 G>A_PLIEAVENLTAFTSNPEFVSIPAQI
20:16496210-16496210 T>C	1.0	4338	COLON	-	-	-	-	KIF16B	uc010gch.2,p.T111A|ENST00000408042,p.T111A|ENST00000354981,p.T111A|NM_001199865,p.T111A|ENST00000355755,p.T111A|uc002wpg.2,p.T111A|uc010gci.2,p.T111A|NM_001199866,p.T111A|uc010gcj.2,p.T111A|NM_024704,p.T111A	protein_coding	uc010gcj.2	nonsynonymous SNV	exon4	c.A331G	p.T111A	FAYGQTGSGKSYTMMGNSGDSGLIP	FAYGQTGSGKSYAMMGNSGDSGLIP	7.0	3.0	-	-	4338_20:16496210-16496210 T>C_FAYGQTGSGKSYAMMGNSGDSGLIP
10:125780753-125780753 G>-	0.0	4338	COLON	-	-	ID=COSM1346551;OCCURENCE=8(large_intestine),1(upper_aerodigestive_tract)	-	CHST15	uc010que.3,p.R456fs|ENST00000421115,p.R456fs|NM_001270765,p.R456fs|uc001lho.4,p.R456fs|NM_014863,p.R456fs	protein_coding, processed_transcript	uc010que.3	frameshift deletion	exon6	c.1366delC	p.R456fs	LNNAMPVCTPPPRTPRAGPWQKELVC	LNNAMPVCTPPPVPPELAPGRRSWFVVIMQAALWVCVSA	4.0	4.0	-	-	4338_10:125780753-125780753 G>-_LNNAMPVCTPPPVPPELAPGRRSWFVVIMQAALWVCVSA
19:52826062-52826062 T>G	1.0	4338	COLON	-	-	-	-	ZNF480	ENST00000335090,p.F443C|NM_144684,p.F520C|NM_001297624,p.F477C|uc010ydm.2,p.F477C|ENST00000595962,p.F520C|uc010epn.3,p.F351C|ENST00000334564,p.F477C|uc010ydl.2,p.F520C|NM_001297625,p.F443C|ENST00000468240,p.F520C|uc002pyv.3,p.F443C	protein_coding, nonsense_mediated_decay	uc010ydm.2	nonsynonymous SNV	exon4	c.T1430G	p.F477C	EKPYKCNECGKAFSRISYLAQHWTI	EKPYKCNECGKACSRISYLAQHWTI	9.0	7.0	-	-	4338_19:52826062-52826062 T>G_EKPYKCNECGKACSRISYLAQHWTI
15:83014053-83014053 C>T	1.0	4338	COLON	-	-	-	-	GOLGA6L10	ENST00000557886,p.G177E|NM_001164465,p.G177E	retained_intron, protein_coding	NM_001164465	nonsynonymous SNV	exon6	c.G530A	p.G177E	ETNHLRKELESVGRQLQAEVENNQM	ETNHLRKELESVERQLQAEVENNQM	6.0	10.0	-	-	4338_15:83014053-83014053 C>T_ETNHLRKELESVERQLQAEVENNQM
8:10467637-10467637 ->CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	0.0	4338	COLON	-	-	-	-	RP1L1	ENST00000382483,p.E1324delinsGTKVIEGLQEERVQLEE|uc003wtc.3,p.E1324delinsGTKVIEGLQEERVQLEE|NM_178857,p.E1324delinsGTKVIEGLQEERVQLEE	protein_coding, processed_transcript	uc003wtc.3	nonframeshift insertion	exon4	c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG	p.E1324delinsGTKVIEGLQEERVQLEE	GEGLQEEAVQLEETKTEEGLQEEGV	GEGLQEEAVQLEGTKVIEGLQEERVQLEETKTEEGLQEEGV	2.0	10.0	unscreened	-	4338_8:10467637-10467637 ->CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC_GEGLQEEAVQLEGTKVIEGLQEERVQLEETKTEEGLQEEGV
19:51227715-51227715 G>A	0.0	4338	COLON	-	-	-	-	CLEC11A	ENST00000250340,p.R128H|uc002psy.3,p.R128H|ENST00000599973,p.R128H|NM_002975,p.R128H	protein_coding	uc002psy.3	nonsynonymous SNV	exon3	c.G383A	p.R128H	AGLDAGLHQLHVRLHALDTRVVELT	AGLDAGLHQLHVHLHALDTRVVELT	5.0	7.0	-	-	4338_19:51227715-51227715 G>A_AGLDAGLHQLHVHLHALDTRVVELT
19:59060839-59060839 G>A	1.0	4338	COLON	-	-	-	-	TRIM28	uc010eut.1,p.G520R|NM_005762,p.G602R|ENST00000597136,p.G227R|ENST00000341753,p.G520R|uc002qth.1,p.G217R|uc002qtg.1,p.G602R|ENST00000253024,p.G602R	retained_intron, protein_coding	uc010eut.1	nonsynonymous SNV	exon11	c.G1558A	p.G520R	PRLASPSGSTSSGLEVVAPEGTSAP	PRLASPSGSTSSRLEVVAPEGTSAP	10.0	9.0	-	-	4338_19:59060839-59060839 G>A_PRLASPSGSTSSRLEVVAPEGTSAP
11:62292058-62292058 T>A	1.0	4338	COLON	-	-	-	-	AHNAK	uc001ntl.3,p.K3277N|NM_001620,p.K3277N|ENST00000378024,p.K3277N	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.A9831T	p.K3277N	PDIDIHGPDAKLKGPKLKMPDMHVN	PDIDIHGPDAKLNGPKLKMPDMHVN	10.0	1.0	-	-	4338_11:62292058-62292058 T>A_PDIDIHGPDAKLNGPKLKMPDMHVN
1:158909221-158909221 T>G	0.0	4338	COLON	-	-	-	-	PYHIN1	ENST00000368135,p.L203R|uc001fta.4,p.L203R	protein_coding, processed_transcript	uc001fta.4	nonsynonymous SNV	exon5	c.T608G	p.L203R	STEAYLMNLTLSLTAGSFLSCAVWG	STEAYLMNLTLSRTAGSFLSCAVWG	4.0	9.0	-	-	4338_1:158909221-158909221 T>G_STEAYLMNLTLSRTAGSFLSCAVWG
7:102574928-102574928 G>A	1.0	4338	COLON	-	-	-	-	LRRC17	ENST00000249377,p.A190T|NM_001031692,p.A190T|uc003vau.3,p.A190T|ENST00000339431,p.A190T|NM_005824,p.A190T|uc003vat.3,p.A190T	protein_coding, processed_transcript	uc003vau.3	nonsynonymous SNV	exon2	c.G568A	p.A190T	LQIPRNRNLGNYAKCESPQEQKNKK	LQIPRNRNLGNYTKCESPQEQKNKK	4.0	3.0	-	-	4338_7:102574928-102574928 G>A_LQIPRNRNLGNYTKCESPQEQKNKK
17:14248685-14248685 C>T	0.0	4338	COLON	-	rs56408399	-	-	HS3ST3B1	ENST00000360954,p.R299W|ENST00000466596,p.R299W|NM_006041,p.R299W|uc002goh.1,p.R299W	protein_coding, nonsense_mediated_decay	uc002goh.1	nonsynonymous SNV	exon2	c.C895T	p.R299W	FPIRQMLFVSGERLISDPAGELGRV	FPIRQMLFVSGEWLISDPAGELGRV	4.0	5.0	-	-	4338_17:14248685-14248685 C>T_FPIRQMLFVSGEWLISDPAGELGRV
7:100639989-100639989 G>A	1.0	4338	COLON	-	-	-	-	MUC12	uc003uxo.3,p.V2049I|ENST00000536621,p.V2049I|ENST00000379442,p.V2192I|NM_001164462,p.V2049I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G6145A	p.V2049I	TTSSGIVEASTRVHSSTGSPRTTLS	TTSSGIVEASTRIHSSTGSPRTTLS	7.0	2.0	-	-	4338_7:100639989-100639989 G>A_TTSSGIVEASTRIHSSTGSPRTTLS
11:94533437-94533437 G>A	0.0	4338	COLON	-	-	ID=COSM1235264;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	AMOTL1	ENST00000317837,p.V361I|ENST00000433060,p.V361I|uc001pfc.3,p.V311I|uc001pfb.3,p.V361I|ENST00000317829,p.V311I|NM_130847,p.V361I|NM_001301007,p.V311I	retained_intron, protein_coding, processed_transcript	uc001pfc.3	nonsynonymous SNV	exon2	c.G931A	p.V311I	YPAPQPVRTDVAVLRYQPPPEYGVT	YPAPQPVRTDVAILRYQPPPEYGVT	6.0	2.0	-	-	4338_11:94533437-94533437 G>A_YPAPQPVRTDVAILRYQPPPEYGVT
4:94376990-94376990 G>A	0.0	4338	COLON	-	-	-	-	GRID2	ENST00000282020,p.G575S|uc011cdu.2,p.G480S|uc011cdt.2,p.G575S|NM_001286838,p.G480S|NM_001510,p.G575S|ENST00000510992,p.G480S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cdu.2	nonsynonymous SNV	exon10	c.G1438A	p.G480S	APFDLSLWACIAGTVLLVGLLVYLL	APFDLSLWACIASTVLLVGLLVYLL	2.0	10.0	-	-	4338_4:94376990-94376990 G>A_APFDLSLWACIASTVLLVGLLVYLL
17:78897406-78897406 C>T	1.0	4338	COLON	-	-	-	-	RPTOR	uc002jyt.1,p.A914V|ENST00000576366,p.A74V|ENST00000544334,p.A756V|NM_020761,p.A914V|uc010wug.1,p.A756V|ENST00000306801,p.A914V|NM_001163034,p.A756V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wug.1	nonsynonymous SNV	exon19	c.C2267T	p.A756V	PSGRPGTTGPAGAQYTPHSHQFPRT	PSGRPGTTGPAGVQYTPHSHQFPRT	8.0	9.0	-	-	4338_17:78897406-78897406 C>T_PSGRPGTTGPAGVQYTPHSHQFPRT
16:30594087-30594087 G>A	0.0	4338	COLON	-	-	-	-	ZNF785	ENST00000395216,p.R338W|uc002dyv.2,p.R323W|ENST00000470110,p.R323W|uc002dyw.2,p.R338W|NM_152458,p.R338W|uc010vez.2,p.R303W	protein_coding, nonsense_mediated_decay	uc010vez.2	nonsynonymous SNV	exon3	c.C907T	p.R303W	LLLSHRRIHSDSRPFPCVECGKGFK	LLLSHRRIHSDSWPFPCVECGKGFK	5.0	8.0	-	-	4338_16:30594087-30594087 G>A_LLLSHRRIHSDSWPFPCVECGKGFK
8:72948662-72948662 C>T	0.0	4338	COLON	-	-	-	-	TRPA1	ENST00000262209,p.V806I|ENST00000523582,p.V658I|NM_007332,p.V806I|uc003xza.3,p.V806I	retained_intron, protein_coding, processed_transcript	uc003xza.3	nonsynonymous SNV	exon21	c.G2416A	p.V806I	QQKRNYFMDISNVLEWIIYTTGIIF	QQKRNYFMDISNILEWIIYTTGIIF	2.0	9.0	-	-	4338_8:72948662-72948662 C>T_QQKRNYFMDISNILEWIIYTTGIIF
15:68649516-68649516 C>T	0.0	4338	COLON	0.0014	-	ID=COSM1129136;OCCURENCE=1(prostate)	-	ITGA11	ENST00000423218,p.R241Q|uc010bib.3,p.R241Q|uc002ari.3,p.R241Q|NM_001004439,p.R241Q|ENST00000315757,p.R241Q	retained_intron, protein_coding, processed_transcript	uc010bib.3	nonsynonymous SNV	exon7	c.G722A	p.R241Q	ASHIEQRGGTETRTAFGIEFARSEA	ASHIEQRGGTETQTAFGIEFARSEA	5.0	7.0	-	-	4338_15:68649516-68649516 C>T_ASHIEQRGGTETQTAFGIEFARSEA
16:28474317-28474317 C>T	0.0	4338	COLON	-	-	-	-	EIF3C,CLN3	uc010vct.2,p.R127H|uc002dpk.2,p.R51H|ENST00000452313,p.R112H	protein_coding	uc010vct.2	nonsynonymous SNV	exon4	c.G380A	p.R127H	SMDVQQRAWRSNRSRQKGLRSICMH	SMDVQQRAWRSNHSRQKGLRSICMH	6.0	7.0	-	-	4338_16:28474317-28474317 C>T_SMDVQQRAWRSNHSRQKGLRSICMH
11:93554190-93554190 A>G	0.0	4338	COLON	-	-	-	-	VSTM5	NM_001144871,p.F131L|ENST00000409977,p.F131L|uc010ruc.1,p.F131L	retained_intron, protein_coding, nonsense_mediated_decay	uc010ruc.1	nonsynonymous SNV	exon2	c.T391C	p.F131L	VITVTERLGSSQFGTIVLHVSEILY	VITVTERLGSSQLGTIVLHVSEILY	2.0	1.0	-	-	4338_11:93554190-93554190 A>G_VITVTERLGSSQLGTIVLHVSEILY
2:11767136-11767136 C>T	0.0	4338	COLON	-	-	-	-	GREB1	NM_014668,p.T1452M|ENST00000381486,p.T1452M|uc002rbk.1,p.T1452M|ENST00000396123,p.T450M|ENST00000234142,p.T1452M|uc002rbp.1,p.T450M	retained_intron, protein_coding	uc002rbp.1	nonsynonymous SNV	exon8	c.C1349T	p.T450M	SRKPEDLYVRRQTARMRLSKYAAYN	SRKPEDLYVRRQMARMRLSKYAAYN	3.0	6.0	-	-	4338_2:11767136-11767136 C>T_SRKPEDLYVRRQMARMRLSKYAAYN
5:112770110-112770110 G>A	0.0	4338	COLON	-	-	-	-	TSSK1B	NM_032028,p.L143F|ENST00000390666,p.L143F|uc003kqm.2,p.L143F	protein_coding	uc003kqm.2	nonsynonymous SNV	exon1	c.C427T	p.L143F	DVVHRDLKCDNLLLDKDFNIKLSDF	DVVHRDLKCDNLFLDKDFNIKLSDF	2.0	7.0	-	-	4338_5:112770110-112770110 G>A_DVVHRDLKCDNLFLDKDFNIKLSDF
19:5220116-5220116 C>T	0.0	4338	COLON	-	-	-	-	PTPRS	ENST00000592099,p.R769H|ENST00000587303,p.R1200H|uc002mbv.3,p.R1200H|uc002mbx.3,p.R773H|uc002mbw.3,p.R1178H|ENST00000348075,p.R1178H|uc010xin.2,p.R769H|NM_130855,p.R773H|ENST00000353284,p.R769H|ENST00000372412,p.R1201H|ENST00000357368,p.R1200H|ENST00000262963,p.R1196H|NM_002850,p.R1200H|NM_130853,p.R769H|uc002mbu.1,p.R769H|ENST00000588012,p.R1178H|uc002mby.3,p.R769H|NM_130854,p.R1178H	retained_intron, protein_coding, processed_transcript	uc010xin.2	nonsynonymous SNV	exon13	c.G2306A	p.R769H	ISRLQRRSLRHSRQLEVPRPYIAAR	ISRLQRRSLRHSHQLEVPRPYIAAR	5.0	5.0	-	-	4338_19:5220116-5220116 C>T_ISRLQRRSLRHSHQLEVPRPYIAAR
7:31682977-31682977 C>T	0.0	4338	COLON	-	-	-	-	CCDC129	uc003tcj.1,p.P665S|ENST00000451887,p.P691S|ENST00000409210,p.P573S|ENST00000319386,p.P517S|uc011kae.3,p.P691S|ENST00000407970,p.P665S|NM_194300,p.P665S|uc003tci.1,p.P516S|NM_001257967,p.P675S|uc011kad.1,p.P675S|uc003tck.1,p.P573S|NM_001257968,p.P691S	retained_intron, protein_coding, processed_transcript	uc011kae.3	nonsynonymous SNV	exon11	c.C2071T	p.P691S	ATDLAQTSEKLIPHLHKLPGDPAQV	ATDLAQTSEKLISHLHKLPGDPAQV	3.0	2.0	-	-	4338_7:31682977-31682977 C>T_ATDLAQTSEKLISHLHKLPGDPAQV
19:40383820-40383820 C>T	1.0	4338	COLON	-	rs6508919	ID=COSM3823076;OCCURENCE=2(breast)	-	FCGBP	NM_003890,p.G3264S|ENST00000221347,p.G3264S|uc002omp.4,p.G3264S	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon21	c.G9790A	p.G3264S	GEVCGLLPSGQHGCQPVSTAECQAW	GEVCGLLPSGQHSCQPVSTAECQAW	6.0	5.0	-	-	4338_19:40383820-40383820 C>T_GEVCGLLPSGQHSCQPVSTAECQAW
19:36486190-36486190 G>T	0.0	4338	COLON	-	-	-	-	SDHAF1	NM_001042631,p.S5I|uc002ocp.3,p.S5I|ENST00000378887,p.S5I	protein_coding	uc002ocp.3	nonsynonymous SNV	exon1	c.G14T	p.S5I	MSRHSRLQRQVLSLYRD	MSRHIRLQRQVLSLYRD	5.0	6.0	-	-	4338_19:36486190-36486190 G>T_MSRHIRLQRQVLSLYRD
14:79746687-79746687 C>T	0.0	4338	COLON	-	-	-	-	NRXN3	ENST00000281127,p.T18M|ENST00000428277,p.T18M|ENST00000555387,p.T18M|uc001xur.5,p.T18M|NM_001105250,p.T18M|NM_138970,p.T18M|uc001xuq.3,p.T18M|uc010asw.4,p.T18M|ENST00000557594,p.T18M|NM_001272020,p.T18M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010asw.4	nonsynonymous SNV	exon1	c.C53T	p.T18M	HARRSPPRRPAWTLGIWFLFWGCIV	HARRSPPRRPAWMLGIWFLFWGCIV	4.0	7.0	-	-	4338_14:79746687-79746687 C>T_HARRSPPRRPAWMLGIWFLFWGCIV
X:64722790-64722790 G>A	1.0	4338	COLON	-	-	-	-	ZC3H12B	NM_001010888,p.D738N|uc010nko.3,p.D738N|ENST00000338957,p.D738N|ENST00000423889,p.D727N	protein_coding	uc010nko.3	nonsynonymous SNV	exon5	c.G2212A	p.D738N	QHASWDPLPCTTDSYGYHSYPLSNS	QHASWDPLPCTTNSYGYHSYPLSNS	3.0	10.0	-	-	4338_X:64722790-64722790 G>A_QHASWDPLPCTTNSYGYHSYPLSNS
1:13001196-13001196 A>G	0.0	4338	COLON	-	rs11485247	-	-	LOC101929983,PRAMEF6,PRAMEF9	ENST00000415464,p.Y163H|NM_001010889,p.Y163H|uc001auq.2,p.Y163H|ENST00000376189,p.Y163H|ENST00000355096,p.Y163H	protein_coding	uc001auq.2	nonsynonymous SNV	exon3	c.T487C	p.Y163H	VELWLKNRTLDEYLTCLLLWVKQRK	VELWLKNRTLDEHLTCLLLWVKQRK	2.0	4.0	-	-	4338_1:13001196-13001196 A>G_VELWLKNRTLDEHLTCLLLWVKQRK
16:51171082-51171082 C>T	0.0	4338	COLON	-	-	-	-	SALL1	ENST00000541611,p.G129R|uc021tif.1,p.G1209R|NM_001127892,p.G1209R|ENST00000251020,p.G1306R|NM_002968,p.G1306R|uc010cbv.3,p.G158R|ENST00000440970,p.G1209R	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon3	c.G3625A	p.G1209R	LAGLEKMASSENGTNFRFTRFVEDS	LAGLEKMASSENRTNFRFTRFVEDS	1.0	8.0	-	-	4338_16:51171082-51171082 C>T_LAGLEKMASSENRTNFRFTRFVEDS
3:137484221-137484221 G>A	0.0	4338	COLON	-	-	-	-	SOX14	NM_004189,p.V199M|ENST00000306087,p.V199M|uc003erm.2,p.V199M	protein_coding	uc003erm.2	nonsynonymous SNV	exon1	c.G595A	p.V199M	THTHPSPTNPGYVVPCNCTAWSAST	THTHPSPTNPGYMVPCNCTAWSAST	1.0	1.0	-	-	4338_3:137484221-137484221 G>A_THTHPSPTNPGYMVPCNCTAWSAST
6:100838430-100838430 C>T	0.0	4338	COLON	-	-	-	-	SIM1	uc003pqj.4,p.R703Q|uc021zdg.1,p.R703Q|ENST00000369208,p.R703Q|ENST00000262901,p.R703Q|uc010kcu.3,p.R703Q|NM_005068,p.R703Q	retained_intron, protein_coding	uc021zdg.1	nonsynonymous SNV	exon11	c.G2108A	p.R703Q	HPTVSPNCFGSHRQYFDKHAYTLTG	HPTVSPNCFGSHQQYFDKHAYTLTG	1.0	10.0	-	-	4338_6:100838430-100838430 C>T_HPTVSPNCFGSHQQYFDKHAYTLTG
6:146755843-146755843 G>A	0.0	4338	COLON	-	-	-	-	GRM1	ENST00000361719,p.V1166M|ENST00000282753,p.V1166M|NM_001278064,p.V1166M|uc010khw.2,p.V1166M	retained_intron, protein_coding	uc010khw.2	nonsynonymous SNV	exon9	c.G3496A	p.V1166M	SVASGSSVPSSPVSESVLCTPPNVS	SVASGSSVPSSPMSESVLCTPPNVS	1.0	10.0	-	-	4338_6:146755843-146755843 G>A_SVASGSSVPSSPMSESVLCTPPNVS
4:126336467-126336467 G>-	0.0	4338	COLON	-	-	-	1	FAT4	ENST00000335110,p.V415fs|NM_024582,p.V2117fs|NM_001291285,p.V2117fs|uc003ifj.4,p.V2117fs|uc011cgp.2,p.V415fs|ENST00000394329,p.V2117fs|NM_001291303,p.V2117fs	retained_intron, protein_coding	uc011cgp.2	frameshift deletion	exon5	c.1243delG	p.V415fs	EVRLTGELDREEVSNYTLTVVATDKG	EVRLTGELDREEFLIIL	4.0	3.0	-	-	4338_4:126336467-126336467 G>-_EVRLTGELDREEFLIIL
3:54786630-54786630 G>A	0.0	4338	COLON	-	-	-	-	CACNA2D3	ENST00000477024,p.R297H|NM_018398,p.R391H|ENST00000474759,p.R391H|ENST00000288197,p.R391H|ENST00000490478,p.R297H|uc010hmv.1,p.R125H|uc003dhf.3,p.R391H|ENST00000415676,p.R391H|ENST00000471363,p.R297H|uc003dhg.1,p.R297H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hmv.1	nonsynonymous SNV	exon10	c.G374A	p.R125H	IFAKYNWPDRKVRIFTYLIGREAAF	IFAKYNWPDRKVHIFTYLIGREAAF	3.0	4.0	-	-	4338_3:54786630-54786630 G>A_IFAKYNWPDRKVHIFTYLIGREAAF
2:196729094-196729094 C>T	1.0	4338	COLON	-	-	-	-	DNAH7	NM_018897,p.E2429K|ENST00000312428,p.E2429K|uc002utj.4,p.E2429K	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon41	c.G7285A	p.E2429K	NAGEIPNLFALDEKQEICDKMRQLD	NAGEIPNLFALDKKQEICDKMRQLD	5.0	3.0	-	-	4338_2:196729094-196729094 C>T_NAGEIPNLFALDKKQEICDKMRQLD
20:2397988-2397988 C>T	0.0	4338	COLON	-	-	-	-	TGM6	uc010gal.1,p.R483C|ENST00000381423,p.R483C|NM_001254734,p.R483C|ENST00000202625,p.R483C|NM_198994,p.R483C|uc002wfy.1,p.R483C	protein_coding, processed_transcript	uc010gal.1	nonsynonymous SNV	exon10	c.C1447T	p.R483C	IWIRRAGGRCLWRDDLLEPATKPSI	IWIRRAGGRCLWCDDLLEPATKPSI	1.0	9.0	-	-	4338_20:2397988-2397988 C>T_IWIRRAGGRCLWCDDLLEPATKPSI
11:128786490-128786490 G>A	0.0	4338	COLON	-	-	-	1	KCNJ5	ENST00000533599,p.R375Q|uc001qew.3,p.R375Q|uc001qet.3,p.R375Q|ENST00000529694,p.R375Q|NM_000890,p.R375Q|ENST00000338350,p.R375Q|uc009zck.3,p.R375Q	protein_coding	uc009zck.3	nonsynonymous SNV	exon4	c.G1124A	p.R375Q	CAKELAEMKREGRLLQYLPSPPLLG	CAKELAEMKREGQLLQYLPSPPLLG	5.0	6.0	-	-	4338_11:128786490-128786490 G>A_CAKELAEMKREGQLLQYLPSPPLLG
7:140453136-140453136 A>T	1.0	4338	COLON	-	-	ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system)	1	BRAF	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	8.0	8.0	-	-	4338_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ
19:56041242-56041242 G>A	0.0	4338	COLON	-	-	-	-	SBK2	ENST00000344158,p.A302V|NM_001101401,p.A302V|ENST00000413299,p.A302V|uc010ygc.2,p.A302V	protein_coding	uc010ygc.2	nonsynonymous SNV	exon4	c.C905T	p.A302V	PQPWFGLAAAPDALLRGLLDPHPRR	PQPWFGLAAAPDVLLRGLLDPHPRR	1.0	6.0	-	Snp within 36 nucleotides, 19:56041255-56041255 C>G, residue 11 A>P PR	4338_19:56041242-56041242 G>A_PQPWFGLAAAPDVLLRGLLDPHPRR
18:54278250-54278250 C>T	1.0	4338	COLON	-	-	-	-	TXNL1	uc002lgg.3,p.A272T|NM_004786,p.A272T|ENST00000217515,p.A272T|ENST00000590954,p.A272T|uc002lgi.3,p.A272T|ENST00000540155,p.A149T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002lgi.3	nonsynonymous SNV	exon9	c.G814A	p.A272T	ISYFTFIGTPVQATNMNDFKRVVGK	ISYFTFIGTPVQTTNMNDFKRVVGK	8.0	5.0	-	-	4338_18:54278250-54278250 C>T_ISYFTFIGTPVQTTNMNDFKRVVGK
X:26236124-26236124 T>C	0.0	4338	COLON	-	-	-	-	MAGEB5	uc031thc.1,p.Y236H|ENST00000602297,p.Y236H|NM_001271752,p.Y236H|ENST00000379029,p.Y236H	protein_coding	uc031thc.1	nonsynonymous SNV	exon2	c.T706C	p.Y236H	VNDIAPGAFSSQYEEALQDEEESPS	VNDIAPGAFSSQHEEALQDEEESPS	1.0	10.0	-	-	4338_X:26236124-26236124 T>C_VNDIAPGAFSSQHEEALQDEEESPS
10:18242219-18242219 C>A	0.0	4338	COLON	-	-	-	-	SLC39A12	NM_001145195,p.T5K|NM_001282733,p.T5K|uc001ipn.2,p.T5K|ENST00000377371,p.T5K|uc001ipp.2,p.T5K|ENST00000377374,p.T5K|NM_152725,p.T5K|ENST00000377369,p.T5K|uc001ipo.2,p.T5K	protein_coding	uc001ipp.2	nonsynonymous SNV	exon2	c.C14A	p.T5K	MCFRTKLSVSWVPLFLL	MCFRKKLSVSWVPLFLL	1.0	9.0	-	-	4338_10:18242219-18242219 C>A_MCFRKKLSVSWVPLFLL
16:70902514-70902514 C>T	0.0	4338	COLON	-	-	-	-	HYDIN	uc031qwy.1,p.V3757I|ENST00000393567,p.V3757I|NM_001270974,p.V3757I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon66	c.G11269A	p.V3757I	WDDRMHTVKWVDVPRNMPGTFTTKR	WDDRMHTVKWVDIPRNMPGTFTTKR	5.0	8.0	-	-	4338_16:70902514-70902514 C>T_WDDRMHTVKWVDIPRNMPGTFTTKR
X:153178918-153178918 C>T	1.0	4338	COLON	-	-	-	-	ARHGAP4	NM_001164741,p.R464Q|uc004fjk.2,p.R424Q|NM_001666,p.R424Q|uc004fjl.2,p.R464Q|ENST00000422918,p.R171Q|ENST00000393721,p.R246Q|ENST00000370028,p.R464Q|ENST00000370016,p.R403Q|ENST00000537206,p.R401Q|uc011mzf.2,p.R401Q|ENST00000420383,p.R424Q|ENST00000350060,p.R424Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mzf.2	nonsynonymous SNV	exon9	c.G1202A	p.R401Q	ESLKSTSSDPGSRQAGRRRGQQQET	ESLKSTSSDPGSQQAGRRRGQQQET	7.0	10.0	-	-	4338_X:153178918-153178918 C>T_ESLKSTSSDPGSQQAGRRRGQQQET
18:54278250-54278250 C>T	1.0	4338	COLON	-	-	-	-	TXNL1	uc002lgj.1,p.A272T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002lgj.1	nonsynonymous SNV	exon7	c.G814A	p.A272T	ISYFTFIGTPVQATNMNDFKRVSLL	ISYFTFIGTPVQTTNMNDFKRVSLL	8.0	5.0	-	-	4338_18:54278250-54278250 C>T_ISYFTFIGTPVQTTNMNDFKRVSLL
15:25972339-25972339 G>A	0.0	4338	COLON	-	-	-	-	ATP10A	ENST00000555815,p.T272M|NM_024490,p.T272M|uc010ayu.3,p.T272M|ENST00000356865,p.T272M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ayu.3	nonsynonymous SNV	exon4	c.C815T	p.T272M	ENLLLRGCTLRNTDAVVGIVIYAGH	ENLLLRGCTLRNMDAVVGIVIYAGH	4.0	2.0	-	-	4338_15:25972339-25972339 G>A_ENLLLRGCTLRNMDAVVGIVIYAGH
2:42720464-42720464 C>T	0.0	4338	COLON	-	-	-	-	KCNG3	uc002rsm.3,p.E60K|NM_172344,p.E60K|uc002rsn.3,p.E60K|ENST00000394973,p.E60K|NM_133329,p.E60K|ENST00000306078,p.E60K	protein_coding	uc002rsn.3	nonsynonymous SNV	exon1	c.G178A	p.E60K	LEVCDDYDRERNEYFFDRHSEAFGF	LEVCDDYDRERNKYFFDRHSEAFGF	1.0	1.0	-	-	4338_2:42720464-42720464 C>T_LEVCDDYDRERNKYFFDRHSEAFGF
19:9577513-9577513 T>C	0.0	4338	COLON	-	-	-	-	ZNF560	uc002mlp.1,p.K704E|uc010dwr.1,p.K598E|NM_152476,p.K704E|ENST00000301480,p.K704E	retained_intron, protein_coding	uc010dwr.1	nonsynonymous SNV	exon10	c.A1792G	p.K598E	SFRNSMCFHDRLKTLTKIKPYKCKD	SFRNSMCFHDRLETLTKIKPYKCKD	1.0	5.0	-	-	4338_19:9577513-9577513 T>C_SFRNSMCFHDRLETLTKIKPYKCKD
7:57528678-57528678 A>T	0.0	4338	COLON	-	-	-	-	ZNF716	uc011kdi.1,p.N171Y|NM_001159279,p.N171Y|ENST00000420713,p.N171Y	protein_coding	uc011kdi.1	nonsynonymous SNV	exon4	c.A511T	p.N171Y	THKCVKVFGKFSNSNRHKTRHTGKK	THKCVKVFGKFSYSNRHKTRHTGKK	1.0	6.0	-	-	4338_7:57528678-57528678 A>T_THKCVKVFGKFSYSNRHKTRHTGKK
3:133495924-133495924 C>T	0.0	4338	COLON	0.0014	-	-	-	TF	uc011blt.2,p.S508L|ENST00000264998,p.S508L|uc003epv.2,p.S635L|NM_001063,p.S635L|uc003epu.2,p.S635L|ENST00000402696,p.S635L|uc003epw.2,p.S74L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011blt.2	nonsynonymous SNV	exon15	c.C1523T	p.S508L	QQHLFGSNVTDCSGNFCLFRSETKD	QQHLFGSNVTDCLGNFCLFRSETKD	4.0	8.0	-	-	4338_3:133495924-133495924 C>T_QQHLFGSNVTDCLGNFCLFRSETKD
2:95537590-95537590 G>A	0.0	4338	COLON	-	-	-	-	TEKT4	ENST00000427593,p.R89H|NM_144705,p.R89H|ENST00000295201,p.R89H|uc002stw.1,p.R89H	retained_intron, protein_coding	uc002stw.1	nonsynonymous SNV	exon1	c.G266A	p.R89H	QALAQRTQQDSTRTVGERLQDTHSW	QALAQRTQQDSTHTVGERLQDTHSW	2.0	8.0	-	-	4338_2:95537590-95537590 G>A_QALAQRTQQDSTHTVGERLQDTHSW
7:90894964-90894964 G>A	0.0	4338	COLON	-	-	-	-	FZD1	uc003ula.3,p.G257R|NM_003505,p.G257R|ENST00000287934,p.G257R	protein_coding	uc003ula.3	nonsynonymous SNV	exon1	c.G769A	p.G257R	EFWTSNPQHGGGGHRGGFPGGAGAS	EFWTSNPQHGGGRHRGGFPGGAGAS	4.0	9.0	-	-	4338_7:90894964-90894964 G>A_EFWTSNPQHGGGRHRGGFPGGAGAS
4:147561722-147561722 G>A	0.0	4338	COLON	-	-	ID=COSM267234;OCCURENCE=1(large_intestine)	-	POU4F2	NM_004575,p.R331H|uc003ikv.3,p.R331H|ENST00000281321,p.R331H	protein_coding	uc003ikv.3	nonsynonymous SNV	exon2	c.G992A	p.R331H	LQAWLEEAEKSHREKLTKPELFNGA	LQAWLEEAEKSHHEKLTKPELFNGA	1.0	5.0	-	-	4338_4:147561722-147561722 G>A_LQAWLEEAEKSHHEKLTKPELFNGA
19:57326922-57326922 C>T	0.0	4338	COLON	-	-	ID=COSM1526801,COSM1526800;OCCURENCE=1(lung),1(kidney)	-	PEG3	ENST00000599534,p.R963H|ENST00000599577,p.R963H|ENST00000598410,p.R839H|uc002qnu.2,p.R963H|uc010etr.2,p.R963H|uc002qnw.2,p.R839H|NM_001146187,p.R839H|uc002qnv.2,p.R963H|ENST00000423103,p.R963H|ENST00000326441,p.R963H|NM_001146184,p.R963H|NM_001146185,p.R837H|uc002qnt.2,p.R934H|uc002qnx.2,p.R837H|ENST00000593695,p.R837H|NM_001146186,p.R963H|NM_006210,p.R963H	protein_coding, processed_transcript	uc010etr.2	nonsynonymous SNV	exon9	c.G2888A	p.R963H	VIHSLPFGEQTFRPRGMLYECQECG	VIHSLPFGEQTFHPRGMLYECQECG	3.0	4.0	-	-	4338_19:57326922-57326922 C>T_VIHSLPFGEQTFHPRGMLYECQECG
2:213872272-213872272 C>T	0.0	4338	COLON	-	-	-	-	IKZF2	ENST00000434687,p.G465R|uc002vem.3,p.G465R|uc010fux.3,p.G239R|uc010fuv.3,p.G391R|ENST00000374327,p.G320R|ENST00000451136,p.G393R|uc010fuu.3,p.G320R|uc002ven.3,p.G439R|uc002vel.3,p.G386R|NM_016260,p.G465R|uc010fuy.3,p.G393R|ENST00000374319,p.G439R|uc010fuw.3,p.G239R|ENST00000421754,p.G391R|ENST00000342002,p.G471R|ENST00000457361,p.G465R|uc002vej.3,p.G412R|uc002vei.3,p.G243R|NM_001079526,p.G439R	retained_intron, protein_coding, nonsense_mediated_decay	uc010fuy.3	nonsynonymous SNV	exon6	c.G1177A	p.G393R	SLKDIYKVFNGEGEQIRAFKCEHCR	SLKDIYKVFNGEREQIRAFKCEHCR	6.0	2.0	-	-	4338_2:213872272-213872272 C>T_SLKDIYKVFNGEREQIRAFKCEHCR
14:69808409-69808409 G>A	0.0	4338	COLON	-	-	-	-	GALNT16	NM_020692,p.R400Q|uc010aqu.2,p.R400Q|ENST00000448469,p.R400Q|ENST00000337827,p.R400Q|uc001xla.2,p.R400Q|uc001xlb.2,p.R400Q|ENST00000553669,p.R400Q|NM_001168368,p.R400Q|ENST00000553471,p.R400Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010aqu.2	nonsynonymous SNV	exon12	c.G1199A	p.R400Q	SAIGKAFGSVATRIEQRKKMNCKSF	SAIGKAFGSVATQIEQRKKMNCKSF	2.0	3.0	-	-	4338_14:69808409-69808409 G>A_SAIGKAFGSVATQIEQRKKMNCKSF
2:80530374-80530374 C>T	0.0	4338	COLON	-	-	-	-	LRRTM1	ENST00000295057,p.D191N|uc021vjt.1,p.D191N|ENST00000416268,p.D191N|ENST00000417012,p.D191N|ENST00000433224,p.D191N|uc002sok.1,p.D191N|NM_178839,p.D191N|ENST00000409148,p.D191N	protein_coding, nonsense_mediated_decay	uc021vjt.1	nonsynonymous SNV	exon1	c.G571A	p.D191N	RIFQDCRSLKFLDIGYNQLKSLARN	RIFQDCRSLKFLNIGYNQLKSLARN	1.0	2.0	-	-	4338_2:80530374-80530374 C>T_RIFQDCRSLKFLNIGYNQLKSLARN
5:5235219-5235219 G>A	0.0	4338	COLON	-	-	-	-	ADAMTS16	ENST00000274181,p.R648H|NM_139056,p.R648H|uc003jdk.1,p.R648H|uc003jdl.3,p.R648H	retained_intron, protein_coding, processed_transcript	uc003jdl.3	nonsynonymous SNV	exon13	c.G1943A	p.R648H	NSQKCPRDSVDFRAAQCAEHNSRRF	NSQKCPRDSVDFHAAQCAEHNSRRF	4.0	8.0	-	-	4338_5:5235219-5235219 G>A_NSQKCPRDSVDFHAAQCAEHNSRRF
5:140182565-140182565 C>T	0.0	4338	COLON	-	-	-	-	PCDHA3	NM_031497,p.R595C|uc003lhf.2,p.R595C|NM_018906,p.R595C|uc011czz.2,p.R595C|ENST00000532566,p.R595C|ENST00000522353,p.R595C	protein_coding	uc011czz.2	nonsynonymous SNV	exon1	c.C1783T	p.R595C	RSVGAGHVVAKVRAVDADSGYNAWL	RSVGAGHVVAKVCAVDADSGYNAWL	3.0	2.0	-	-	4338_5:140182565-140182565 C>T_RSVGAGHVVAKVCAVDADSGYNAWL
18:47753910-47753910 T>A	0.0	4338	COLON	-	-	-	-	CFAP53	uc002lee.2,p.Q462H|NM_145020,p.Q462H|ENST00000398545,p.Q462H	protein_coding	uc002lee.2	nonsynonymous SNV	exon8	c.A1386T	p.Q462H	QLQMQIAYQQQSQEAEKEEKRREFE	QLQMQIAYQQQSHEAEKEEKRREFE	3.0	5.0	-	-	4338_18:47753910-47753910 T>A_QLQMQIAYQQQSHEAEKEEKRREFE
3:46944955-46944955 C>T	0.0	4338	COLON	-	-	-	-	PTH1R	uc021wxg.1,p.H531Y|ENST00000422115,p.H120Y|ENST00000449590,p.H531Y|ENST00000313049,p.H531Y|NM_000316,p.H531Y|NM_001184744,p.H531Y|ENST00000430002,p.H531Y|uc003cqm.3,p.H531Y|ENST00000418619,p.H531Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc021wxg.1	nonsynonymous SNV	exon15	c.C1591T	p.H531Y	SPRLLPTATTNGHPQLPGHAKPGTP	SPRLLPTATTNGYPQLPGHAKPGTP	5.0	8.0	-	-	4338_3:46944955-46944955 C>T_SPRLLPTATTNGYPQLPGHAKPGTP
11:105924616-105924616 C>A	0.0	4338	COLON	-	-	-	-	KBTBD3	uc001pja.3,p.C267F|NM_198439,p.C267F|NM_152433,p.C267F|ENST00000531837,p.C267F|ENST00000526793,p.C267F|ENST00000534815,p.C188F|uc009yxm.3,p.C188F|uc001pjb.3,p.C267F	retained_intron, protein_coding, processed_transcript	uc009yxm.3	nonsynonymous SNV	exon2	c.G563T	p.C188F	LFNEESLLKSTNCFDIIMDAIKCVQ	LFNEESLLKSTNFFDIIMDAIKCVQ	2.0	5.0	-	-	4338_11:105924616-105924616 C>A_LFNEESLLKSTNFFDIIMDAIKCVQ
11:17757652-17757652 G>A	0.0	4338	COLON	-	-	-	-	KCNC1	NM_001112741,p.A35T|uc001mnk.4,p.A35T|NM_004976,p.A35T|ENST00000379472,p.A35T|ENST00000265969,p.A35T|uc009yhc.1,p.A35T	retained_intron, protein_coding, processed_transcript	uc009yhc.1	nonsynonymous SNV	exon1	c.G103A	p.A35T	RSTLRTLPGTRLAWLAEPDAHSHFD	RSTLRTLPGTRLTWLAEPDAHSHFD	1.0	6.0	-	-	4338_11:17757652-17757652 G>A_RSTLRTLPGTRLTWLAEPDAHSHFD
2:27801773-27801773 A>C	0.0	4338	COLON	-	-	-	-	C2orf16	uc002rkz.4,p.E778D|ENST00000408964,p.E778D|NM_032266,p.E778D	protein_coding	uc002rkz.4	nonsynonymous SNV	exon1	c.A2334C	p.E778D	DIKNPGTDILQPEETYIDPTMIQSL	DIKNPGTDILQPDETYIDPTMIQSL	1.0	3.0	-	-	4338_2:27801773-27801773 A>C_DIKNPGTDILQPDETYIDPTMIQSL
11:36595648-36595648 A>C	0.0	4338	COLON	-	-	-	-	RAG1	ENST00000534663,p.K265T|NM_000448,p.K265T|uc001mwu.4,p.K265T|uc021qgb.1,p.K265T|ENST00000299440,p.K265T	protein_coding, processed_transcript, nonsense_mediated_decay	uc021qgb.1	nonsynonymous SNV	exon1	c.A794C	p.K265T	AQARISSKDVMKKIANCSKIHLSTK	AQARISSKDVMKTIANCSKIHLSTK	3.0	4.0	-	-	4338_11:36595648-36595648 A>C_AQARISSKDVMKTIANCSKIHLSTK
1:159842827-159842827 G>T	0.0	4338	COLON	-	-	-	-	CFAP45	uc001fui.3,p.A495D|ENST00000368099,p.A495D|NM_012337,p.A495D|uc001fuk.3,p.A410D|ENST00000426543,p.A410D	protein_coding, processed_transcript	uc001fuk.3	nonsynonymous SNV	exon12	c.C1229A	p.A410D	RENQQKEVQNRIATFEEGRRLKEEA	RENQQKEVQNRIDTFEEGRRLKEEA	4.0	7.0	-	-	4338_1:159842827-159842827 G>T_RENQQKEVQNRIDTFEEGRRLKEEA
X:148039901-148039901 A>C	0.0	4338	COLON	-	-	ID=COSM1244594,COSM1244593,COSM205816;OCCURENCE=1(oesophagus),1(large_intestine)	-	AFF2	NM_001169125,p.K829T|ENST00000286437,p.K509T|ENST00000370457,p.K835T|NM_001169123,p.K858T|NM_001169122,p.K835T|NM_002025,p.K868T|NM_001169124,p.K833T|uc011mxc.2,p.K509T|ENST00000370460,p.K868T|uc011mxb.2,p.K833T|ENST00000342251,p.K835T|uc004fcq.3,p.K858T|uc004fcs.3,p.K835T|NM_001170628,p.K509T|uc004fcr.3,p.K829T|uc004fcp.3,p.K868T	protein_coding	uc011mxc.2	nonsynonymous SNV	exon9	c.A1526C	p.K509T	KPIEVAEKIPEKKQRLEEATTICLL	KPIEVAEKIPEKTQRLEEATTICLL	4.0	7.0	-	-	4338_X:148039901-148039901 A>C_KPIEVAEKIPEKTQRLEEATTICLL
7:2951876-2951876 T>A	0.0	4338	COLON	-	-	-	1	CARD11	uc003smv.3,p.Y1025F|ENST00000396946,p.Y1025F|NM_032415,p.Y1025F	retained_intron, protein_coding	uc003smv.3	nonsynonymous SNV	exon23	c.A3074T	p.Y1025F	EFLRRQKTETIIYSREKNPNAFECI	EFLRRQKTETIIFSREKNPNAFECI	4.0	1.0	-	-	4338_7:2951876-2951876 T>A_EFLRRQKTETIIFSREKNPNAFECI
3:51749302-51749302 C>T	0.0	4338	COLON	-	-	-	-	GRM2	ENST00000395052,p.L505F|NM_000839,p.L505F|uc010hlv.3,p.L505F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hlv.3	nonsynonymous SNV	exon4	c.C1513T	p.L505F	GPLPASRCSEPCLQNEVKSVQPGEV	GPLPASRCSEPCFQNEVKSVQPGEV	1.0	6.0	-	-	4338_3:51749302-51749302 C>T_GPLPASRCSEPCFQNEVKSVQPGEV
12:111748205-111748205 G>A	0.0	4338	COLON	-	-	-	-	CUX2	NM_015267,p.G540E|uc001tsa.2,p.G540E|ENST00000261726,p.G540E	protein_coding, processed_transcript	uc001tsa.2	nonsynonymous SNV	exon15	c.G1619A	p.G540E	EPLGGPEPADGGGGGAAGPGAEEEQ	EPLGGPEPADGGEGGAAGPGAEEEQ	2.0	8.0	-	-	4338_12:111748205-111748205 G>A_EPLGGPEPADGGEGGAAGPGAEEEQ
7:107234452-107234452 C>G	1.0	4338	COLON	-	-	-	-	BCAP29	ENST00000005259,p.S82R|uc011kma.1,p.S82R|uc003vej.2,p.S82R|ENST00000379117,p.S82R|NM_001008405,p.S82R|ENST00000457837,p.S82R|ENST00000442065,p.S82R|NM_018844,p.S82R|ENST00000379119,p.S82R|ENST00000479917,p.S82R|ENST00000445771,p.S82R|ENST00000491150,p.S39R|ENST00000421217,p.S82R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kma.1	nonsynonymous SNV	exon3	c.C246G	p.S82R	VRKYSSVHTIEKSSTSRPDAYEHTQ	VRKYSSVHTIEKRSTSRPDAYEHTQ	8.0	1.0	-	-	4338_7:107234452-107234452 C>G_VRKYSSVHTIEKRSTSRPDAYEHTQ
22:19766910-19766910 G>A	0.0	4338	COLON	0.0005	-	-	-	TBX1	ENST00000329705,p.A393T|uc002zqb.3,p.A393T|NM_080646,p.A393T	retained_intron, protein_coding	uc002zqb.3	nonsynonymous SNV	exon9	c.G1177A	p.A393T	PFNTQGLVAGRTAGDRLC	PFNTQGLVAGRTTGDRLC	4.0	7.0	-	-	4338_22:19766910-19766910 G>A_PFNTQGLVAGRTTGDRLC
X:57146624-57146624 A>T	1.0	4338	COLON	-	-	-	-	SPIN2B	ENST00000333933,p.W147R|uc022bxw.1,p.W147R|ENST00000434397,p.W147R|ENST00000275988,p.W147R|NM_001006681,p.W147R|uc004duy.3,p.W147R|NM_001006682,p.W147R|uc004dva.3,p.W147R|uc004duz.3,p.W147R|ENST00000374912,p.W147R|NM_001006683,p.W147R	protein_coding, processed_transcript	uc022bxw.1	nonsynonymous SNV	exon1	c.T439A	p.W147R	HMFEGEHGSKDEWRGMVLAQAPIMK	HMFEGEHGSKDERRGMVLAQAPIMK	6.0	7.0	-	-	4338_X:57146624-57146624 A>T_HMFEGEHGSKDERRGMVLAQAPIMK
18:76753616-76753616 A>C	0.0	4338	COLON	-	-	-	-	SALL3	ENST00000575389,p.D542A|ENST00000536229,p.D409A|uc010dra.3,p.D149A|NM_171999,p.D542A|uc002lmt.3,p.D542A|ENST00000537592,p.D542A	protein_coding, processed_transcript	uc010dra.3	nonsynonymous SNV	exon1	c.A446C	p.D149A	LPPTVPGAHGYADSPSATPASRSPQ	LPPTVPGAHGYAASPSATPASRSPQ	1.0	2.0	-	-	4338_18:76753616-76753616 A>C_LPPTVPGAHGYAASPSATPASRSPQ
3:74315685-74315685 G>T	0.0	4338	COLON	-	-	-	-	CNTN3	NM_020872,p.T978K|ENST00000263665,p.T978K|uc003dpm.1,p.T978K	protein_coding, processed_transcript	uc003dpm.1	nonsynonymous SNV	exon21	c.C2933A	p.T978K	IKEDYIIEVKATTDGGDGTSSEQIR	IKEDYIIEVKATKDGGDGTSSEQIR	3.0	7.0	-	-	4338_3:74315685-74315685 G>T_IKEDYIIEVKATKDGGDGTSSEQIR
18:44773130-44773130 C>G	0.0	4338	COLON	-	-	-	-	SKOR2	ENST00000425639,p.A809P|uc031rif.1,p.A809P|NM_001278063,p.A809P	protein_coding	uc031rif.1	nonsynonymous SNV	exon1	c.G2425C	p.A809P	GSSRDRAPAVAGAFPLGLNSSRLLQ	GSSRDRAPAVAGPFPLGLNSSRLLQ	1.0	6.0	-	-	4338_18:44773130-44773130 C>G_GSSRDRAPAVAGPFPLGLNSSRLLQ
7:12410074-12410074 G>A	0.0	4338	COLON	-	-	-	-	VWDE	ENST00000452576,p.P620S|uc011jxm.1,p.P74S|uc003ssj.2,p.P620S|ENST00000275358,p.P620S|NM_001135924,p.P620S	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxm.1	nonsynonymous SNV	exon9	c.C220T	p.P74S	DTLPVSMTSPGKPSYCSCSLDTAAY	DTLPVSMTSPGKSSYCSCSLDTAAY	3.0	2.0	-	-	4338_7:12410074-12410074 G>A_DTLPVSMTSPGKSSYCSCSLDTAAY
22:29837623-29837623 C>T	0.0	4338	COLON	-	-	ID=COSM725997;OCCURENCE=1(lung)	-	RFPL1	NM_021026,p.R156W|ENST00000354373,p.R156W|uc003afn.3,p.R156W	protein_coding	uc003afn.3	nonsynonymous SNV	exon2	c.C466T	p.R156W	LRSVRSGCITQNRQDLAERFDVSIC	LRSVRSGCITQNWQDLAERFDVSIC	1.0	6.0	-	-	4338_22:29837623-29837623 C>T_LRSVRSGCITQNWQDLAERFDVSIC
10:98157017-98157017 G>A	0.0	4338	COLON	-	-	-	-	TLL2	uc009xvf.2,p.T415M|ENST00000357947,p.T437M|NM_012465,p.T437M|uc001kml.2,p.T437M	protein_coding, processed_transcript	uc009xvf.2	nonsynonymous SNV	exon11	c.C1244T	p.T415M	FCGDKIPEPLVSTDSRLWVEFRSSS	FCGDKIPEPLVSMDSRLWVEFRSSS	3.0	2.0	-	-	4338_10:98157017-98157017 G>A_FCGDKIPEPLVSMDSRLWVEFRSSS
2:196834814-196834814 C>T	0.0	4338	COLON	-	-	-	-	DNAH7	ENST00000312428,p.R688Q|uc002utj.4,p.R688Q|NM_018897,p.R688Q	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon17	c.G2063A	p.R688Q	EKIEQYQEGLKLRCERFVEELESYA	EKIEQYQEGLKLQCERFVEELESYA	5.0	4.0	-	-	4338_2:196834814-196834814 C>T_EKIEQYQEGLKLQCERFVEELESYA
16:87723443-87723443 G>A	0.0	4338	COLON	-	-	-	-	JPH3	NM_020655,p.A493T|uc002fkd.4,p.A493T|ENST00000284262,p.A493T	protein_coding, processed_transcript	uc002fkd.4	nonsynonymous SNV	exon4	c.G1477A	p.A493T	PTSPAATPPPAPAARNKVAHFSRQV	PTSPAATPPPAPTARNKVAHFSRQV	2.0	6.0	-	-	4338_16:87723443-87723443 G>A_PTSPAATPPPAPTARNKVAHFSRQV
1:145313398-145313398 T>C	0.0	4338	COLON	-	-	-	-	NBPF10,NBPF20,NBPF9	uc031poc.1,p.Y715H|uc021ots.1,p.Y286H|ENST00000369338,p.Y442H|ENST00000342960,p.Y640H|uc021oul.2,p.Y640H|NM_001278267,p.Y1808H|NM_001039703,p.Y715H|uc021oun.1,p.Y42H|uc010oyl.3,p.Y42H|uc010oye.3,p.Y685H	protein_coding, processed_transcript	uc031poc.1	nonsynonymous SNV	exon16	c.T2143C	p.Y715H	EPEVLQDSLDRCYSTPSGYLELPDL	EPEVLQDSLDRCHSTPSGYLELPDL	10.0	1.0	-	-	4338_1:145313398-145313398 T>C_EPEVLQDSLDRCHSTPSGYLELPDL
8:10583877-10583877 C>T	0.0	4338	COLON	-	-	-	-	SOX7	ENST00000554914,p.E232K|uc011kwz.2,p.E232K|ENST00000553390,p.E232K|uc003wtf.3,p.E180K|ENST00000304501,p.E180K|NM_031439,p.E180K	protein_coding	uc011kwz.2	nonsynonymous SNV	exon6	c.G694A	p.E232K	GTALPSLRGCYHEGPAGGGGGGTPS	GTALPSLRGCYHKGPAGGGGGGTPS	4.0	3.0	-	-	4338_8:10583877-10583877 C>T_GTALPSLRGCYHKGPAGGGGGGTPS
2:131688612-131688612 C>T	0.0	4338	COLON	-	-	-	-	ARHGEF4	uc010fmw.1,p.P674S|NM_032995,p.P28S|uc002tsb.1,p.P28S|uc002tsa.1,p.P28S|NM_015320,p.P28S|ENST00000326016,p.P28S|uc002trz.1,p.P674S|ENST00000525839,p.P28S|ENST00000392953,p.P28S|ENST00000409359,p.P884S|ENST00000438985,p.P208S|ENST00000409303,p.P28S|uc010fmx.1,p.P28S|ENST00000428230,p.P28S	retained_intron, protein_coding, processed_transcript	uc010fmx.1	nonsynonymous SNV	exon1	c.C82T	p.P28S	SQKAFHMEPAQKPCFTTDMVTWALL	SQKAFHMEPAQKSCFTTDMVTWALL	3.0	1.0	-	-	4338_2:131688612-131688612 C>T_SQKAFHMEPAQKSCFTTDMVTWALL
19:40376946-40376946 G>A	0.0	4338	COLON	-	-	-	-	FCGBP	NM_003890,p.P3826S|uc002omp.4,p.P3826S|ENST00000221347,p.P3826S	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon24	c.C11476T	p.P3826S	ANEFGNSWEEVVPDSPCLPPPTCPP	ANEFGNSWEEVVSDSPCLPPPTCPP	6.0	4.0	-	-	4338_19:40376946-40376946 G>A_ANEFGNSWEEVVSDSPCLPPPTCPP
11:133799588-133799588 A>G	1.0	4338	COLON	-	-	-	-	IGSF9B	NM_001277285,p.Y537H|ENST00000321016,p.Y537H|ENST00000533871,p.Y537H|uc031qfh.1,p.Y537H|uc001qgy.1,p.Y379H	protein_coding	uc031qfh.1	nonsynonymous SNV	exon12	c.T1609C	p.Y537H	ANVSWEPGYDGGYEQTFSVWMKRAQ	ANVSWEPGYDGGHEQTFSVWMKRAQ	4.0	5.0	-	-	4338_11:133799588-133799588 A>G_ANVSWEPGYDGGHEQTFSVWMKRAQ
19:17643087-17643087 C>T	0.0	4338	COLON	-	-	ID=COSM3822274,COSM3822276,COSM3822273,COSM3822275;OCCURENCE=1(breast)	-	FAM129C	ENST00000595684,p.R99C|ENST00000335393,p.R99C|uc021uqj.1,p.R99C|ENST00000599124,p.R68C|ENST00000599164,p.R68C|ENST00000601861,p.R68C|ENST00000352727,p.R99C|uc010xps.2,p.R68C|ENST00000300971,p.R99C|uc021uqi.1,p.R99C|ENST00000600519,p.R68C|NM_001098524,p.R99C|NM_173544,p.R99C|ENST00000332386,p.R99C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uqj.1	nonsynonymous SNV	exon4	c.C295T	p.R99C	SQLLRSKKLPRVREHRGPLTQLRGH	SQLLRSKKLPRVCEHRGPLTQLRGH	4.0	4.0	-	-	4338_19:17643087-17643087 C>T_SQLLRSKKLPRVCEHRGPLTQLRGH
1:151108608-151108608 C>A	1.0	4338	COLON	-	-	-	-	SEMA6C	NM_030913,p.A380S|uc001eww.3,p.A340S|NM_001178061,p.A380S|ENST00000341697,p.A380S|ENST00000368913,p.A380S|ENST00000368912,p.A340S|uc001ewv.3,p.A380S|ENST00000368914,p.A380S|NM_001178062,p.A340S|uc001ewu.3,p.A380S	protein_coding, processed_transcript	uc001eww.3	nonsynonymous SNV	exon12	c.G1018T	p.A340S	PRPGSCAGVGGAALFSSSRDLPDDV	PRPGSCAGVGGASLFSSSRDLPDDV	4.0	2.0	-	-	4338_1:151108608-151108608 C>A_PRPGSCAGVGGASLFSSSRDLPDDV
10:117849268-117849268 G>A	0.0	4338	COLON	-	-	-	-	GFRA1	NM_001145453,p.P389L|NM_005264,p.P394L|ENST00000544592,p.P273L|ENST00000439649,p.P389L|ENST00000369236,p.P389L|uc001lcj.3,p.P394L|uc001lci.3,p.P389L|uc009xyr.3,p.P389L|ENST00000355422,p.P394L|ENST00000369234,p.P394L|NM_145793,p.P389L	protein_coding, processed_transcript	uc009xyr.3	nonsynonymous SNV	exon8	c.C1166T	p.P389L	GSENEIPTHVLPPCANLQAQKLKSN	GSENEIPTHVLPLCANLQAQKLKSN	2.0	1.0	-	-	4338_10:117849268-117849268 G>A_GSENEIPTHVLPLCANLQAQKLKSN
14:23846479-23846479 C>T	0.0	4338	COLON	-	-	-	-	CMTM5	ENST00000342473,p.R7C|NM_001288746,p.R7C|ENST00000397227,p.R7C|uc001wjs.3,p.R7C|NM_001288745,p.R7C|ENST00000359320,p.R7C|uc001wjt.3,p.R7C|ENST00000555731,p.R7C|uc001wju.3,p.R7C|NM_001288744,p.R7C|ENST00000382809,p.R7C|NM_001037288,p.R7C|NM_138460,p.R7C|uc010akn.3,p.R7C|uc010akm.3,p.R7C|ENST00000339180,p.R7C	retained_intron, protein_coding	uc010akn.3	nonsynonymous SNV	exon1	c.C19T	p.R7C	MLSARDRRDRHPEEGVVAE	MLSARDCRDRHPEEGVVAE	1.0	5.0	-	-	4338_14:23846479-23846479 C>T_MLSARDCRDRHPEEGVVAE
20:590457-590457 C>T	0.0	4338	COLON	-	-	-	-	TCF15	NM_004609,p.R142H|uc002wdz.3,p.R142H|ENST00000246080,p.R142H	protein_coding	uc002wdz.3	nonsynonymous SNV	exon1	c.G425A	p.R142H	LGDSADDGQPCFRAAGSAKGAVPAA	LGDSADDGQPCFHAAGSAKGAVPAA	1.0	2.0	-	-	4338_20:590457-590457 C>T_LGDSADDGQPCFHAAGSAKGAVPAA
19:17643087-17643087 C>T	0.0	4338	COLON	-	-	ID=COSM3822274,COSM3822276,COSM3822273,COSM3822275;OCCURENCE=1(breast)	-	FAM129C	ENST00000600871,p.R45C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000600871	nonsynonymous SNV	exon3	c.C133T	p.R45C	RGQLAASKLPRVREHRGPLTQLRGH	RGQLAASKLPRVCEHRGPLTQLRGH	4.0	4.0	-	-	4338_19:17643087-17643087 C>T_RGQLAASKLPRVCEHRGPLTQLRGH
3:87017902-87017902 A>T	0.0	4338	COLON	-	-	-	-	VGLL3	NM_016206,p.Y259N|uc003dqn.3,p.Y259N|ENST00000398399,p.Y259N|ENST00000383698,p.Y259N	protein_coding	uc003dqn.3	nonsynonymous SNV	exon3	c.T775A	p.Y259N	HHPPAGSALDPSYGPLLMPSVHAAR	HHPPAGSALDPSNGPLLMPSVHAAR	5.0	1.0	-	-	4338_3:87017902-87017902 A>T_HHPPAGSALDPSNGPLLMPSVHAAR
15:34048546-34048546 G>A	0.0	4338	COLON	0.0023	-	-	-	RYR3	NM_001243996,p.R2852H|NM_001036,p.R2852H|uc001zhi.3,p.R2852H|uc010bar.3,p.R2852H|ENST00000415757,p.R2852H|ENST00000389232,p.R2852H	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon59	c.G8555A	p.R2852H	AIVSSGKTEKSPRDQEIKFFAKVLL	AIVSSGKTEKSPHDQEIKFFAKVLL	2.0	4.0	-	-	4338_15:34048546-34048546 G>A_AIVSSGKTEKSPHDQEIKFFAKVLL
12:50746740-50746740 T>G	0.0	4338	COLON	-	-	-	-	FAM186A	uc001rwl.2,p.N1292T|NM_001145475,p.N1292T|ENST00000327337,p.N1292T|uc010smt.1,p.N1070T|ENST00000543111,p.N1292T	protein_coding, nonsense_mediated_decay	uc010smt.1	nonsynonymous SNV	exon1	c.A3209C	p.N1070T	TPKQAQELGIPLNPQQAQTLGIPLT	TPKQAQELGIPLTPQQAQTLGIPLT	1.0	3.0	-	-	4338_12:50746740-50746740 T>G_TPKQAQELGIPLTPQQAQTLGIPLT
1:177250588-177250588 T>A	0.0	4338	COLON	-	-	-	-	BRINP2	ENST00000361539,p.I759N|NM_021165,p.I759N|uc001glg.3,p.I654N|uc001glf.3,p.I759N	protein_coding, processed_transcript	uc001glg.3	nonsynonymous SNV	exon5	c.T1961A	p.I654N	HRLKLANNEVGRIQSSLRAFNSKLP	HRLKLANNEVGRNQSSLRAFNSKLP	1.0	2.0	-	-	4338_1:177250588-177250588 T>A_HRLKLANNEVGRNQSSLRAFNSKLP
5:121187822-121187822 C>T	0.0	4338	COLON	-	-	-	-	FTMT	uc003kss.3,p.S55F|ENST00000321339,p.S55F|NM_177478,p.S55F	protein_coding	uc003kss.3	nonsynonymous SNV	exon1	c.C164T	p.S55F	IAPRRPLAAAASSRDPTGPAAGPSR	IAPRRPLAAAASFRDPTGPAAGPSR	1.0	1.0	-	-	4338_5:121187822-121187822 C>T_IAPRRPLAAAASFRDPTGPAAGPSR
2:56599507-56599507 C>G	0.0	4338	COLON	-	-	-	-	CCDC85A	NM_001080433,p.T449S|uc002rzn.3,p.T449S|ENST00000407595,p.T449S	protein_coding	uc002rzn.3	nonsynonymous SNV	exon4	c.C1346G	p.T449S	LPQASQNRRQPPTRNSSNMEKGWGS	LPQASQNRRQPPSRNSSNMEKGWGS	2.0	2.0	-	-	4338_2:56599507-56599507 C>G_LPQASQNRRQPPSRNSSNMEKGWGS
8:38109502-38109502 A>G	1.0	4338	COLON	-	-	-	-	DDHD2	uc003xlc.3,p.S473G|ENST00000397166,p.S473G|NM_015214,p.S473G|ENST00000520272,p.S473G|ENST00000517385,p.S92G|uc003xld.3,p.S92G|uc003xlb.3,p.S473G|NM_001164232,p.S473G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xld.3	nonsynonymous SNV	exon3	c.A274G	p.S92G	ANIPKESEFCSSSNTRNGDYLDVGI	ANIPKESEFCSSGNTRNGDYLDVGI	9.0	1.0	-	-	4338_8:38109502-38109502 A>G_ANIPKESEFCSSGNTRNGDYLDVGI
4:71347156-71347156 C>A	0.0	4338	COLON	-	-	-	-	MUC7	uc003hfj.3,p.P232Q|uc011cau.2,p.P232Q|NM_001145006,p.P232Q|ENST00000304887,p.P232Q|uc011cat.2,p.P232Q|ENST00000413702,p.P232Q|NM_001145007,p.P232Q|NM_152291,p.P232Q|ENST00000456088,p.P232Q	retained_intron, protein_coding, processed_transcript	uc011cau.2	nonsynonymous SNV	exon4	c.C695A	p.P232Q	ATTPAPPSSSAPPETTAAPPTPSAT	ATTPAPPSSSAPQETTAAPPTPSAT	1.0	3.0	-	-	4338_4:71347156-71347156 C>A_ATTPAPPSSSAPQETTAAPPTPSAT
2:227924334-227924334 G>A	0.0	4338	COLON	-	-	-	-	COL4A4	NM_000092,p.R724C|uc021vxs.1,p.R724C|ENST00000396625,p.R724C|ENST00000329662,p.R724C|uc021vxr.1,p.R724C	protein_coding	uc021vxs.1	nonsynonymous SNV	exon28	c.C2170T	p.R724C	PGTAEIPGPPGFRGDMGDPGFGGEK	PGTAEIPGPPGFCGDMGDPGFGGEK	4.0	3.0	-	-	4338_2:227924334-227924334 G>A_PGTAEIPGPPGFCGDMGDPGFGGEK
14:77948764-77948764 C>T	0.0	4338	COLON	-	-	-	-	ISM2	uc001xtz.3,p.E292K|NM_199296,p.E292K|uc001xty.3,p.E204K|ENST00000393684,p.E204K|ENST00000342219,p.E292K|ENST00000412904,p.E211K|ENST00000429906,p.E211K	retained_intron, protein_coding, nonsense_mediated_decay	uc001xtz.3	nonsynonymous SNV	exon4	c.G874A	p.E292K	IEGEDQEDKEEDEEEQALWFNGTTD	IEGEDQEDKEEDKEEQALWFNGTTD	1.0	1.0	-	-	4338_14:77948764-77948764 C>T_IEGEDQEDKEEDKEEQALWFNGTTD
7:49815573-49815573 C>A	0.0	4338	COLON	-	-	-	-	VWC2	NM_198570,p.T181N|uc003tot.1,p.T181N|ENST00000340652,p.T181N	protein_coding	uc003tot.1	nonsynonymous SNV	exon2	c.C542A	p.T181N	FAPGPSACPCLCTEEGPLCAQPECP	FAPGPSACPCLCNEEGPLCAQPECP	1.0	1.0	-	-	4338_7:49815573-49815573 C>A_FAPGPSACPCLCNEEGPLCAQPECP
16:89178528-89178528 C>T	1.0	4348	ESOPHAGEAL	-	-	ID=COSM215667;OCCURENCE=1(central_nervous_system)	-	ACSF3	ENST00000537895,p.T19M|NM_001243279,p.T284M|ENST00000378345,p.T19M|NM_001284316,p.T19M|ENST00000544543,p.T19M|ENST00000540697,p.T19M|ENST00000406948,p.T284M|ENST00000317447,p.T284M|uc010cih.2,p.T19M|NM_174917,p.T284M|uc010cig.2,p.T284M|NM_001127214,p.T284M|ENST00000538340,p.T59M|uc021tmq.1,p.T284M|ENST00000542688,p.T284M|uc002fmp.3,p.T284M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tmq.1	nonsynonymous SNV	exon5	c.C851T	p.T284M	PQQVWEKFLSSETPRINVFMAVPTI	PQQVWEKFLSSEMPRINVFMAVPTI	8.0	10.0	CD8	-	4348_16:89178528-89178528 C>T_PQQVWEKFLSSEMPRINVFMAVPTI
19:48887646-48887646 T>G	1.0	4348	ESOPHAGEAL	-	-	-	-	KDELR1	NM_006801,p.S149R|ENST00000597017,p.S87R|uc002pjb.1,p.S149R|ENST00000330720,p.S149R|uc002pja.1,p.S87R	retained_intron, protein_coding	uc002pjb.1	nonsynonymous SNV	exon4	c.A445C	p.S149R	MVSKTGEAETITSHYLFALGVYRTL	MVSKTGEAETITRHYLFALGVYRTL	9.0	1.0	-	-	4348_19:48887646-48887646 T>G_MVSKTGEAETITRHYLFALGVYRTL
19:30308119-30308119 G>C	1.0	4348	ESOPHAGEAL	-	-	-	1	CCNE1	ENST00000262643,p.V86L|ENST00000357943,p.V86L|ENST00000575243,p.V83L|uc002nso.3,p.V71L|uc002nsn.3,p.V86L|ENST00000444983,p.V71L|NM_001238,p.V86L	retained_intron, protein_coding	uc002nso.3	nonsynonymous SNV	exon3	c.G211C	p.V71L	LIPTPDKEDDDRVYPNSTCKPRIIA	LIPTPDKEDDDRLYPNSTCKPRIIA	10.0	4.0	-	-	4348_19:30308119-30308119 G>C_LIPTPDKEDDDRLYPNSTCKPRIIA
3:129214349-129214349 C>G	1.0	4348	ESOPHAGEAL	-	-	-	-	IFT122	NM_052989,p.Q703E|ENST00000431818,p.Q553E|ENST00000509522,p.Q200E|uc010htd.1,p.Q182E|uc003emm.3,p.Q703E|uc003emn.3,p.Q644E|ENST00000296266,p.Q754E|NM_001280541,p.Q695E|uc003emp.3,p.Q553E|NM_001280546,p.Q494E|NM_001280545,p.Q553E|uc011bky.2,p.Q494E|NM_018262,p.Q644E|ENST00000507564,p.Q695E|ENST00000507221,p.Q65E|uc011bla.2,p.Q476E|ENST00000440957,p.Q494E|NM_052990,p.Q592E|ENST00000348417,p.Q703E|NM_052985,p.Q754E|ENST00000349441,p.Q592E|uc010htc.3,p.Q695E|uc003ems.3,p.Q84E|uc011bkx.1,p.Q543E|ENST00000347300,p.Q644E|uc003eml.3,p.Q754E|uc003emo.3,p.Q592E|ENST00000504021,p.Q579E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bla.2	nonsynonymous SNV	exon11	c.C1426G	p.Q476E	NNDLFLADVFSYQGKFHEAAKLYKR	NNDLFLADVFSYEGKFHEAAKLYKR	8.0	9.0	-	-	4348_3:129214349-129214349 C>G_NNDLFLADVFSYEGKFHEAAKLYKR
9:35806185-35806185 G>A	1.0	4348	ESOPHAGEAL	-	-	-	-	NPR2	uc010mlb.3,p.R752Q|uc003zyd.3,p.R776Q|NM_003995,p.R776Q|ENST00000447210,p.R35Q|ENST00000342694,p.R776Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010mlb.3	nonsynonymous SNV	exon14	c.G2255A	p.R752Q	LMERCWAQDPAERPDFGQIKGFIRR	LMERCWAQDPAEQPDFGQIKGFIRR	7.0	9.0	-	-	4348_9:35806185-35806185 G>A_LMERCWAQDPAEQPDFGQIKGFIRR
17:38556816-38556816 C>T	1.0	4348	ESOPHAGEAL	-	-	-	-	TOP2A	ENST00000423485,p.E922K|uc002huq.3,p.E922K|NM_001067,p.E922K	retained_intron, protein_coding	uc002huq.3	nonsynonymous SNV	exon22	c.G2764A	p.E922K	SGEVAILNSTTIEISELPVRTWTQT	SGEVAILNSTTIKISELPVRTWTQT	10.0	6.0	-	-	4348_17:38556816-38556816 C>T_SGEVAILNSTTIKISELPVRTWTQT
19:1108682-1108682 C>T	1.0	4348	ESOPHAGEAL	-	-	-	-	SBNO2	uc010dse.3,p.C1196Y|NM_014963,p.C1213Y|uc002lrk.4,p.C1213Y|uc002lrj.4,p.C1156Y|ENST00000438103,p.C1156Y|NM_001100122,p.C1156Y|ENST00000587024,p.C1203Y|ENST00000361757,p.C1213Y	retained_intron, protein_coding	uc010dse.3	nonsynonymous SNV	exon32	c.G3587A	p.C1196Y	RKKQVGIKIPEGCVRRVLQELRLMD	RKKQVGIKIPEGYVRRVLQELRLMD	8.0	10.0	-	-	4348_19:1108682-1108682 C>T_RKKQVGIKIPEGYVRRVLQELRLMD
1:214575087-214575087 T>A	1.0	4348	ESOPHAGEAL	-	-	-	-	PTPN14	NM_005401,p.M204L|uc010pty.2,p.M105L|ENST00000366956,p.M204L|uc001hkk.2,p.M204L	protein_coding, processed_transcript	uc010pty.2	nonsynonymous SNV	exon6	c.A313T	p.M105L	AHSGILPAEAELMYINEVERLDGFG	AHSGILPAEAELLYINEVERLDGFG	5.0	7.0	-	-	4348_1:214575087-214575087 T>A_AHSGILPAEAELLYINEVERLDGFG
9:124088868-124088868 G>A	1.0	4348	ESOPHAGEAL	-	-	-	-	GSN	ENST00000545652,p.G507S|uc010mvr.1,p.G510S|ENST00000373823,p.G499S|NM_001127662,p.G499S|uc010mvv.1,p.G499S|uc004ble.1,p.G499S|NM_001127667,p.G510S|NM_001127665,p.G499S|ENST00000373807,p.G281S|NM_001127666,p.G510S|uc011lyj.1,p.G523S|NM_000177,p.G550S|uc004blf.1,p.G550S|NM_001258030,p.G507S|uc010mvq.1,p.G510S|NM_001127664,p.G499S|ENST00000449733,p.G499S|uc010mvu.2,p.G535S|uc004bld.1,p.G499S|uc011lyi.2,p.G507S|ENST00000373808,p.G499S|NM_001258029,p.G516S|uc010mvs.1,p.G499S|ENST00000341272,p.G499S|ENST00000436847,p.G510S|uc011lyh.2,p.G516S|ENST00000394353,p.G510S|ENST00000412819,p.G499S|uc010mvt.1,p.G499S|NM_198252,p.G499S|ENST00000373818,p.G550S|uc004blg.1,p.G281S|NM_001127663,p.G535S	protein_coding, processed_transcript	uc011lyj.1	nonsynonymous SNV	exon11	c.G1567A	p.G523S	LFGGKPMIIYKGGTSREGGQTAPAS	LFGGKPMIIYKGSTSREGGQTAPAS	10.0	3.0	-	-	4348_9:124088868-124088868 G>A_LFGGKPMIIYKGSTSREGGQTAPAS
3:46008086-46008086 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	FYCO1	ENST00000535325,p.A914T|ENST00000296137,p.A914T|uc003cpb.5,p.A914T|NM_024513,p.A914T|uc011bal.1,p.A914T	retained_intron, protein_coding	uc011bal.1	nonsynonymous SNV	exon7	c.G2740A	p.A914T	NTDTAELGIQVCALTVEKERVEEAL	NTDTAELGIQVCTLTVEKERVEEAL	8.0	6.0	-	-	4348_3:46008086-46008086 C>T_NTDTAELGIQVCTLTVEKERVEEAL
2:96525794-96525794 C>A	0.0	4348	ESOPHAGEAL	-	-	-	-	LINC00342,FAHD2CP	ENST00000456556,p.K1237N|ENST00000420871,p.K488N|ENST00000419039,p.K264N|uc002svb.1,p.K264N|uc002suz.1,p.K264N	retained_intron, protein_coding, nonsense_mediated_decay	uc002svb.1	nonsynonymous SNV	exon33	c.G792T	p.K264N	KCKDCVHLLKIKKTFCLCKRLTELK	KCKDCVHLLKIKNTFCLCKRLTELK	10.0	2.0	unscreened	-	4348_2:96525794-96525794 C>A_KCKDCVHLLKIKNTFCLCKRLTELK
19:48887646-48887646 T>G	1.0	4348	ESOPHAGEAL	-	-	-	-	KDELR1	ENST00000600980,p.Q171P	retained_intron, protein_coding	ENST00000600980	nonsynonymous SNV	exon5	c.A512C	p.Q171P	HGEQDRRGGDHHQPLLVCARRLPHA	HGEQDRRGGDHHPPLLVCARRLPHA	9.0	1.0	unscreened	-	4348_19:48887646-48887646 T>G_HGEQDRRGGDHHPPLLVCARRLPHA
2:170401305-170401305 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	FASTKD1	uc002uex.5,p.S581N|uc002uev.4,p.S581N|ENST00000453153,p.S581N|NM_024622,p.S581N|NM_001281476,p.S581N|ENST00000453929,p.S581N	retained_intron, protein_coding, processed_transcript	uc002uex.5	nonsynonymous SNV	exon9	c.G1742A	p.S581N	HPFTIPAIIRPFSVLNYDPPQRDEF	HPFTIPAIIRPFNVLNYDPPQRDEF	6.0	3.0	-	-	4348_2:170401305-170401305 C>T_HPFTIPAIIRPFNVLNYDPPQRDEF
3:43618223-43618223 G>A	0.0	4348	ESOPHAGEAL	-	-	-	-	ANO10	uc011azs.2,p.R375C|ENST00000451430,p.R264C|ENST00000292246,p.R375C|uc011azt.2,p.R264C|ENST00000414522,p.R375C|NM_018075,p.R375C|ENST00000396091,p.R309C|uc003cmw.3,p.R309C|uc003cmv.3,p.R375C|NM_001204833,p.R264C|NM_001204831,p.R375C|NM_001204832,p.R309C	protein_coding, processed_transcript	uc011azt.2	nonsynonymous SNV	exon4	c.C790T	p.R264C	SIIYAIVIEIMNRLYRYAAEFLTSW	SIIYAIVIEIMNCLYRYAAEFLTSW	8.0	9.0	-	-	4348_3:43618223-43618223 G>A_SIIYAIVIEIMNCLYRYAAEFLTSW
1:156126318-156126318 C>G	0.0	4348	ESOPHAGEAL	-	-	-	-	SEMA4A	NM_001193300,p.L85V|uc001fno.3,p.L85V|uc009wrq.3,p.L85V|ENST00000435124,p.L85V|NM_022367,p.L85V|ENST00000368282,p.L85V|ENST00000355014,p.L85V|uc001fnl.3,p.L85V|ENST00000438830,p.L85V|ENST00000368285,p.L85V|NM_001193301,p.L85V|uc001fnm.3,p.L85V	protein_coding, processed_transcript	uc009wrq.3	nonsynonymous SNV	exon3	c.C253G	p.L85V	GNTLYVGAREAILALDIQDPGVPRL	GNTLYVGAREAIVALDIQDPGVPRL	8.0	1.0	-	-	4348_1:156126318-156126318 C>G_GNTLYVGAREAIVALDIQDPGVPRL
5:73932169-73932169 C>A	0.0	4348	ESOPHAGEAL	-	-	-	-	ENC1	uc031skd.1,p.V48F|ENST00000302351,p.V48F|NM_001256575,p.V48F|uc021yao.1,p.V48F|uc031skc.1,p.V48F|uc003kdc.5,p.V48F|NM_001256574,p.V48F|NM_003633,p.V48F|ENST00000537006,p.V48F	protein_coding, processed_transcript	uc031skd.1	nonsynonymous SNV	exon3	c.G142T	p.V48F	LNLLRQQRLFTDVLLHAGNRTFPCH	LNLLRQQRLFTDFLLHAGNRTFPCH	8.0	10.0	-	-	4348_5:73932169-73932169 C>A_LNLLRQQRLFTDFLLHAGNRTFPCH
3:126737269-126737269 A>T	0.0	4348	ESOPHAGEAL	-	-	-	-	PLXNA1	ENST00000251772,p.I1242F|ENST00000393409,p.I1265F|uc003ejg.3,p.I1265F|NM_032242,p.I1265F	retained_intron, protein_coding, processed_transcript	uc003ejg.3	nonsynonymous SNV	exon19	c.A3793T	p.I1265F	GGLLLLVIVAVLIAYKRKSRDADRT	GGLLLLVIVAVLFAYKRKSRDADRT	7.0	1.0	-	-	4348_3:126737269-126737269 A>T_GGLLLLVIVAVLFAYKRKSRDADRT
16:69194270-69194270 G>A	0.0	4348	ESOPHAGEAL	-	-	-	-	CIRH1A	ENST00000352319,p.A371T|uc010cfi.3,p.A288T	retained_intron, protein_coding, processed_transcript	uc010cfi.3	nonsynonymous SNV	exon8	c.G862A	p.A288T	RLGSTVATGTVEAMCLLAVSPDGNW	RLGSTVATGTVETMCLLAVSPDGNW	8.0	7.0	-	-	4348_16:69194270-69194270 G>A_RLGSTVATGTVETMCLLAVSPDGNW
Y:27010651-27010651 T>C	1.0	4348	ESOPHAGEAL	-	-	-	-	DAZ2,DAZ3,DAZ4	uc004fwq.3,p.V234A|ENST00000415508,p.V234A|NM_001005786,p.V234A	protein_coding	uc004fwq.3	nonsynonymous SNV	exon9	c.T701C	p.V234A	SPFQVTAGYQLPVYNYQAFPAYPSS	SPFQVTAGYQLPAYNYQAFPAYPSS	1.0	10.0	-	-	4348_Y:27010651-27010651 T>C_SPFQVTAGYQLPAYNYQAFPAYPSS
Y:27010651-27010651 T>C	1.0	4348	ESOPHAGEAL	-	-	-	-	DAZ2,DAZ3,DAZ4	NM_020364,p.V282A|uc004fwo.3,p.V282A	protein_coding	uc004fwo.3	nonsynonymous SNV	exon11	c.T845C	p.V282A	SPVQVTTGYQLPVYNYQAFPAYPNS	SPVQVTTGYQLPAYNYQAFPAYPNS	1.0	10.0	unscreened	-	4348_Y:27010651-27010651 T>C_SPVQVTTGYQLPAYNYQAFPAYPNS
Y:27010651-27010651 T>C	1.0	4348	ESOPHAGEAL	-	-	-	-	DAZ2,DAZ3,DAZ4	uc022coy.1,p.V282A|ENST00000440066,p.V447A|ENST00000382314,p.V282A|uc004fwp.3,p.V282A|NM_001005375,p.V447A|ENST00000382296,p.V281A|ENST00000449750,p.V282A|uc004fwn.3,p.V282A|ENST00000382432,p.V282A|NM_001005785,p.V282A|uc022coz.1,p.V282A|ENST00000382290,p.V282A|ENST00000400494,p.V282A|uc004fwr.3,p.V282A|uc004fwm.3,p.V447A|uc022cox.1,p.V447A|NM_020420,p.V282A	protein_coding	uc022coz.1	nonsynonymous SNV	exon11	c.T845C	p.V282A	SPFQVTAGYQLPVYNYQAFPAYPNS	SPFQVTAGYQLPAYNYQAFPAYPNS	1.0	10.0	-	-	4348_Y:27010651-27010651 T>C_SPFQVTAGYQLPAYNYQAFPAYPNS
9:96024120-96024120 T>A	0.0	4348	ESOPHAGEAL	-	-	-	2	WNK2	uc011lud.1,p.Y1031N|NM_006648,p.Y1031N|NM_001282394,p.Y1031N|ENST00000427277,p.Y643N|ENST00000349097,p.Y643N|uc004ati.1,p.Y1031N|uc004atj.3,p.Y1031N|ENST00000297954,p.Y1031N|uc004atk.3,p.Y668N|ENST00000395477,p.Y1031N	retained_intron, protein_coding, processed_transcript	uc011lud.1	nonsynonymous SNV	exon12	c.T3091A	p.Y1031N	PGSQILLGHPAPYAVDVAAQVPTVP	PGSQILLGHPAPNAVDVAAQVPTVP	7.0	1.0	-	-	4348_9:96024120-96024120 T>A_PGSQILLGHPAPNAVDVAAQVPTVP
19:37210674-37210674 T>A	0.0	4348	ESOPHAGEAL	-	-	-	-	ZNF567	uc010xtk.1,p.S350T|uc002oeq.1,p.S319T|ENST00000585696,p.S319T|ENST00000588311,p.S319T|uc010xtl.2,p.S350T|NM_001300979,p.S350T|uc002oeo.1,p.S350T|ENST00000536254,p.S350T|uc002oep.4,p.S319T|ENST00000392163,p.S319T|ENST00000360729,p.S319T|NM_152603,p.S319T	retained_intron, protein_coding, nonsense_mediated_decay	uc010xtl.2	nonsynonymous SNV	exon6	c.T1048A	p.S350T	ECLQCRNAFRLKSHLIRHQRTHTGE	ECLQCRNAFRLKTHLIRHQRTHTGE	6.0	2.0	-	-	4348_19:37210674-37210674 T>A_ECLQCRNAFRLKTHLIRHQRTHTGE
21:30325584-30325584 C>T	0.0	4348	ESOPHAGEAL	-	-	ID=COSM1223921;OCCURENCE=1(large_intestine)	-	LTN1	NM_015565,p.R1111H|ENST00000389194,p.R1111H|uc002ymr.2,p.R1111H|ENST00000361371,p.R1065H	protein_coding, processed_transcript	uc002ymr.2	nonsynonymous SNV	exon17	c.G3332A	p.R1111H	ILQKMNITYDNLRVLGNTSGLLQLL	ILQKMNITYDNLHVLGNTSGLLQLL	7.0	2.0	-	-	4348_21:30325584-30325584 C>T_ILQKMNITYDNLHVLGNTSGLLQLL
1:979729-979729 G>A	0.0	4348	ESOPHAGEAL	-	-	-	-	AGRN	ENST00000379370,p.G722R|NM_198576,p.G722R|uc001ack.2,p.G722R	retained_intron, protein_coding, processed_transcript	uc001ack.2	nonsynonymous SNV	exon12	c.G2164A	p.G722R	QSVPGSPVCGSDGVTYSTECELKKA	QSVPGSPVCGSDRVTYSTECELKKA	9.0	1.0	-	-	4348_1:979729-979729 G>A_QSVPGSPVCGSDRVTYSTECELKKA
17:7578211-7578211 C>T	1.0	4348	ESOPHAGEAL	-	-	ID=COSM131468,COSM3403265,COSM1726594,COSM131466,COSM131467,COSM131469,COSM10735;OCCURENCE=7(haematopoietic_and_lymphoid_tissue),1(central_nervous_system),2(stomach),3(oesophagus),1(vulva),1(skin),5(large_intestine),1(biliary_tract),2(liver),1(kidney),4(urinary_tract),1(endometrium)	1	TP53	uc002gij.3,p.R174Q|NM_001126116,p.R81Q|NM_001126117,p.R81Q|uc002gig.1,p.R213Q|uc010cnf.2,p.R54Q|NM_001126114,p.R213Q|ENST00000455263,p.R213Q|NM_001126118,p.R174Q|ENST00000420246,p.R213Q|ENST00000509690,p.R81Q|ENST00000514944,p.R120Q|uc002gii.2,p.R54Q|NM_001126112,p.R213Q|ENST00000269305,p.R213Q|NM_001276699,p.R54Q|NM_001276698,p.R54Q|NM_001126115,p.R81Q|ENST00000413465,p.R213Q|NM_001276761,p.R174Q|uc002gih.3,p.R213Q|uc031qyq.1,p.R174Q|uc010vug.3,p.R174Q|uc002gio.3,p.R81Q|uc010cng.2,p.R54Q|NM_001276696,p.R174Q|NM_001276695,p.R174Q|uc002gin.3,p.R120Q|NM_001126113,p.R213Q|NM_001276697,p.R54Q|ENST00000359597,p.R213Q|NM_000546,p.R213Q|ENST00000445888,p.R213Q|NM_001276760,p.R174Q	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon5	c.G521A	p.R174Q	LRVEYLDDRNTFRHSVVVPYEPPEV	LRVEYLDDRNTFQHSVVVPYEPPEV	8.0	10.0	-	-	4348_17:7578211-7578211 C>T_LRVEYLDDRNTFQHSVVVPYEPPEV
16:69194270-69194270 G>A	0.0	4348	ESOPHAGEAL	-	-	-	-	CIRH1A	ENST00000563094,p.A486T|uc002ewr.2,p.A486T|ENST00000567500,p.A110T|ENST00000562237,p.A500T|uc002ewt.4,p.A403T|NM_032830,p.A486T|ENST00000314423,p.A486T|uc002ews.4,p.A486T	retained_intron, protein_coding, processed_transcript	uc002ewt.4	nonsynonymous SNV	exon13	c.G1207A	p.A403T	LHAFQPQSGTVEAMCLLAVSPDGNW	LHAFQPQSGTVETMCLLAVSPDGNW	8.0	7.0	-	-	4348_16:69194270-69194270 G>A_LHAFQPQSGTVETMCLLAVSPDGNW
1:226175871-226175871 G>C	0.0	4348	ESOPHAGEAL	-	-	-	-	SDE2	ENST00000366817,p.T192S|uc001hpu.4,p.T287S|ENST00000272091,p.T287S|NM_152608,p.T287S	protein_coding	uc001hpu.4	nonsynonymous SNV	exon6	c.C860G	p.T287S	DHGSPEQLQIPVTDSGRHILEDSCA	DHGSPEQLQIPVSDSGRHILEDSCA	7.0	8.0	-	-	4348_1:226175871-226175871 G>C_DHGSPEQLQIPVSDSGRHILEDSCA
9:20929465-20929465 G>A	0.0	4348	ESOPHAGEAL	-	-	-	-	FOCAD	ENST00000605086,p.E499K|NM_017794,p.E1063K|uc003zoh.1,p.E499K|uc003zog.1,p.E1063K|ENST00000338382,p.E1063K|ENST00000380249,p.E1063K	protein_coding	uc003zoh.1	nonsynonymous SNV	exon15	c.G1495A	p.E499K	VPVFIISCKEKVEEILNMLTARLPG	VPVFIISCKEKVKEILNMLTARLPG	8.0	1.0	-	-	4348_9:20929465-20929465 G>A_VPVFIISCKEKVKEILNMLTARLPG
3:45801444-45801444 C>T	1.0	4348	ESOPHAGEAL	-	-	ID=COSM3696104,COSM3696103;OCCURENCE=1(large_intestine)	-	SLC6A20	NM_022405,p.V475I|ENST00000456124,p.V512I|ENST00000358525,p.V512I|uc011bai.2,p.V512I|uc003cow.3,p.V162I|ENST00000353278,p.V475I|uc011baj.2,p.V475I|NM_020208,p.V512I	retained_intron, protein_coding, processed_transcript	uc011baj.2	nonsynonymous SNV	exon9	c.G1423A	p.V475I	AVSWYWKVMWAGVSPLLIVSLFVFY	AVSWYWKVMWAGISPLLIVSLFVFY	4.0	3.0	-	-	4348_3:45801444-45801444 C>T_AVSWYWKVMWAGISPLLIVSLFVFY
21:28210256-28210256 A>T	0.0	4348	ESOPHAGEAL	-	-	-	-	ADAMTS1	uc002ymf.3,p.F849Y|NM_006988,p.F849Y|ENST00000284984,p.F849Y	retained_intron, protein_coding	uc002ymf.3	nonsynonymous SNV	exon9	c.T2546A	p.F849Y	KYTYFVKKKKESFNAIPTFSAWVIE	KYTYFVKKKKESYNAIPTFSAWVIE	5.0	3.0	-	-	4348_21:28210256-28210256 A>T_KYTYFVKKKKESYNAIPTFSAWVIE
6:30075873-30075873 T>-	1.0	4348	ESOPHAGEAL	-	-	-	-	TRIM31	NM_007028,p.K280fs|ENST00000540829,p.K280fs|uc003npg.1,p.K280fs|ENST00000376734,p.K280fs	retained_intron, protein_coding, processed_transcript	uc003npg.1	frameshift deletion	exon6	c.840delA	p.K280fs	VPLELEKKLSEAKSRHDSITGSLKKF	VPLELEKKLSEANQDMTPSQGA	9.0	10.0	unscreened	-	4348_6:30075873-30075873 T>-_VPLELEKKLSEANQDMTPSQGA
4:174219393-174219393 G>A	0.0	4348	ESOPHAGEAL	-	-	-	-	GALNT7	ENST00000265000,p.V365M|NM_017423,p.V365M|uc003isz.4,p.V365M	retained_intron, protein_coding, processed_transcript	uc003isz.4	nonsynonymous SNV	exon6	c.G1093A	p.V365M	RGAWDWSMLWKRVPLTPQEKRLRKT	RGAWDWSMLWKRMPLTPQEKRLRKT	9.0	6.0	-	-	4348_4:174219393-174219393 G>A_RGAWDWSMLWKRMPLTPQEKRLRKT
17:39967885-39967885 G>T	0.0	4348	ESOPHAGEAL	-	-	-	-	LEPREL4	uc002hxu.3,p.R186S|ENST00000393928,p.R95S|NM_006455,p.R95S|uc002hxt.3,p.R95S|ENST00000355468,p.R95S	retained_intron, protein_coding, nonsense_mediated_decay	uc002hxu.3	nonsynonymous SNV	exon2	c.C556A	p.R186S	PAPAAKPDPDGGRADEWACELRLFG	PAPAAKPDPDGGSADEWACELRLFG	5.0	10.0	-	-	4348_17:39967885-39967885 G>T_PAPAAKPDPDGGSADEWACELRLFG
21:34923995-34923995 T>A	0.0	4348	ESOPHAGEAL	-	-	-	-	SON	NM_032195,p.S820T|uc002ysc.3,p.S820T|NM_001291411,p.S820T|ENST00000455528,p.S820T|NM_138927,p.S820T|uc002ysb.1,p.S820T|ENST00000300278,p.S820T|ENST00000381679,p.S820T|ENST00000290239,p.S820T|uc002yse.1,p.S820T|ENST00000356577,p.S820T|uc021win.1,p.S466T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021win.1	nonsynonymous SNV	exon1	c.T1396A	p.S466T	TSSMDSQMLATSSMDSQMLATSSMD	TSSMDSQMLATSTMDSQMLATSSMD	10.0	2.0	unscreened	-	4348_21:34923995-34923995 T>A_TSSMDSQMLATSTMDSQMLATSSMD
7:123672290-123672290 G>C	0.0	4348	ESOPHAGEAL	-	-	-	-	TMEM229A	NM_001136002,p.I256M|ENST00000455783,p.I256M|uc011kob.2,p.I256M	protein_coding	uc011kob.2	nonsynonymous SNV	exon1	c.C768G	p.I256M	FLFFGMHGFLDEIFFTFFFNVLGQG	FLFFGMHGFLDEMFFTFFFNVLGQG	1.0	1.0	-	-	4348_7:123672290-123672290 G>C_FLFFGMHGFLDEMFFTFFFNVLGQG
2:96553848-96553848 C>T	1.0	4348	ESOPHAGEAL	-	-	-	-	LINC00342,FAHD2CP	uc002svb.1,p.A21T|ENST00000295246,p.A415T|uc002suz.1,p.A21T|ENST00000420871,p.A245T|ENST00000419039,p.A21T|ENST00000456556,p.A994T	retained_intron, protein_coding, nonsense_mediated_decay	uc002svb.1	nonsynonymous SNV	exon21	c.G61A	p.A21T	QISGTVSSQKQPALKATSDKKDSVS	QISGTVSSQKQPTLKATSDKKDSVS	10.0	5.0	-	-	4348_2:96553848-96553848 C>T_QISGTVSSQKQPTLKATSDKKDSVS
3:10491056-10491056 G>A	0.0	4348	ESOPHAGEAL	-	-	-	-	ATP2B2	uc003bvw.3,p.R58W|NM_001001331,p.R58W|ENST00000383800,p.R58W|ENST00000352432,p.R58W|ENST00000343816,p.R58W|uc003bvv.3,p.R58W|ENST00000397077,p.R58W|uc003bvt.3,p.R58W|ENST00000360273,p.R58W|ENST00000460129,p.R58W|NM_001683,p.R58W|uc010hdp.2,p.R58W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hdp.2	nonsynonymous SNV	exon2	c.C172T	p.R58W	IKETYGDTEAICRRLKTSPVEGLPG	IKETYGDTEAICWRLKTSPVEGLPG	1.0	8.0	-	-	4348_3:10491056-10491056 G>A_IKETYGDTEAICWRLKTSPVEGLPG
3:195513847-195513847 A>T	0.0	4348	ESOPHAGEAL	-	-	-	2	MUC4	ENST00000478156,p.M1535K|NM_018406,p.M1535K|ENST00000462323,p.M1535K|ENST00000470451,p.M1535K|ENST00000463781,p.M1535K|ENST00000480843,p.M1535K|ENST00000475231,p.M1535K|ENST00000477086,p.M1535K|ENST00000466475,p.M1535K|ENST00000477756,p.M1535K|uc021xjp.1,p.M1535K|ENST00000479406,p.M1535K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.T4604A	p.M1535K	VTSLSSASTGDTMPLPVTSPSSAST	VTSLSSASTGDTKPLPVTSPSSAST	10.0	1.0	unscreened	-	4348_3:195513847-195513847 A>T_VTSLSSASTGDTKPLPVTSPSSAST
1:172547502-172547502 C>A	0.0	4348	ESOPHAGEAL	-	-	-	-	SUCO	uc010pmm.1,p.R469S|uc009wwd.3,p.R425S|ENST00000263688,p.R469S|NM_001282750,p.R432S|ENST00000367723,p.R621S|uc010pmn.2,p.R432S|NM_016227,p.R620S|NM_014283,p.R469S|uc001giq.4,p.R469S	protein_coding, processed_transcript	uc010pmn.2	nonsynonymous SNV	exon13	c.C1294A	p.R432S	YEEIADSQYHSERQELFDEDYDYPL	YEEIADSQYHSESQELFDEDYDYPL	7.0	4.0	-	-	4348_1:172547502-172547502 C>A_YEEIADSQYHSESQELFDEDYDYPL
1:155823497-155823497 ->TTGT	0.0	4348	ESOPHAGEAL	-	-	-	-	GON4L	NM_001282856,p.N25fs|uc001fma.1,p.N25fs|NM_032292,p.N25fs|uc001fly.1,p.N25fs|ENST00000368331,p.N25fs|ENST00000437809,p.N25fs|uc009wrh.1,p.N25fs|NM_001282861,p.N25fs|NM_001282858,p.N25fs|uc001flz.2,p.N25fs|uc001fmd.4,p.N25fs|uc001fmc.3,p.N25fs|ENST00000361040,p.N25fs|NM_001282860,p.N25fs|ENST00000271883,p.N25fs	retained_intron, protein_coding, processed_transcript	uc009wrh.1	frameshift insertion	exon2	c.74_75insACAA	p.N25fs	ESLQHKGNQEENNVDLESAVKPESD	ESLQHKGNQEENKQRRPRISR	10.0	5.0	-	-	4348_1:155823497-155823497 ->TTGT_ESLQHKGNQEENKQRRPRISR
11:1093069-1093069 A>G	0.0	4348	ESOPHAGEAL	-	-	-	-	MUC2	uc001lsx.1,p.T1630A|NM_002457,p.T1630A	protein_coding	uc001lsx.1	nonsynonymous SNV	exon31	c.A4888G	p.T1630A	PSPPTTTPITPPTSTTTLPPTTTPS	PSPPTTTPITPPASTTTLPPTTTPS	5.0	1.0	unscreened	-	4348_11:1093069-1093069 A>G_PSPPTTTPITPPASTTTLPPTTTPS
19:56413486-56413486 G>T	0.0	4348	ESOPHAGEAL	-	-	-	-	NLRP13	NM_176810,p.L902M|uc010ygg.2,p.L902M|ENST00000588751,p.L902M|ENST00000342929,p.L902M	protein_coding	uc010ygg.2	nonsynonymous SNV	exon9	c.C2704A	p.L902M	ALLQNRSLTHLNLSKNSLRDEGVKF	ALLQNRSLTHLNMSKNSLRDEGVKF	1.0	9.0	-	-	4348_19:56413486-56413486 G>T_ALLQNRSLTHLNMSKNSLRDEGVKF
1:74507558-74507558 C>A	0.0	4348	ESOPHAGEAL	-	-	-	-	LRRIQ3	uc001dfy.4,p.V353F|ENST00000354431,p.V353F|NM_001105659,p.V353F|ENST00000395089,p.V353F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dfy.4	nonsynonymous SNV	exon7	c.G1057T	p.V353F	VDEKLDTSFRISVFKLPIYTSGSLK	VDEKLDTSFRISFFKLPIYTSGSLK	2.0	7.0	-	-	4348_1:74507558-74507558 C>A_VDEKLDTSFRISFFKLPIYTSGSLK
18:22807052-22807052 T>A	0.0	4348	ESOPHAGEAL	-	-	-	1	ZNF521	ENST00000361524,p.D277V|ENST00000399425,p.D277V|uc002kvk.2,p.D277V|ENST00000584787,p.D57V|uc002kvl.2,p.D57V|uc010dly.2,p.D277V|NM_015461,p.D277V|ENST00000538137,p.D277V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dly.2	nonsynonymous SNV	exon4	c.A830T	p.D277V	IAECHPECSPNEDRAALQCVYCHEL	IAECHPECSPNEVRAALQCVYCHEL	1.0	6.0	-	-	4348_18:22807052-22807052 T>A_IAECHPECSPNEVRAALQCVYCHEL
2:118575188-118575188 A>C	0.0	4348	ESOPHAGEAL	-	-	-	-	DDX18	uc002tlh.1,p.K85T|ENST00000263239,p.K85T|NM_006773,p.K85T	retained_intron, protein_coding, processed_transcript	uc002tlh.1	nonsynonymous SNV	exon2	c.A254C	p.K85T	MSQEAVGNIKVTKSPQKSTVLTNGE	MSQEAVGNIKVTTSPQKSTVLTNGE	9.0	1.0	-	-	4348_2:118575188-118575188 A>C_MSQEAVGNIKVTTSPQKSTVLTNGE
19:44571119-44571119 A>T	0.0	4348	ESOPHAGEAL	-	-	-	-	ZNF223	uc002oyf.1,p.S380C|ENST00000591793,p.S490C|ENST00000434772,p.S380C|NM_013361,p.S380C	protein_coding, processed_transcript, nonsense_mediated_decay	uc002oyf.1	nonsynonymous SNV	exon5	c.A1138T	p.S380C	GEKPYKCDKCGKSYITKSGLDLHHR	GEKPYKCDKCGKCYITKSGLDLHHR	9.0	7.0	unscreened	-	4348_19:44571119-44571119 A>T_GEKPYKCDKCGKCYITKSGLDLHHR
10:61932862-61932862 A>C	0.0	4348	ESOPHAGEAL	-	-	-	-	ANK3	uc010qih.2,p.V739G|uc001jkz.4,p.V750G|uc001jky.3,p.V756G|NM_001204404,p.V739G|NM_020987,p.V756G|ENST00000373827,p.V750G|ENST00000280772,p.V756G|NM_001204403,p.V750G|ENST00000503366,p.V739G|uc001jlb.1,p.V285G|uc001jlc.1,p.V417G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qih.2	nonsynonymous SNV	exon19	c.T2216G	p.V739G	KIVNFLLQHSAKVNAKTKNGYTPLH	KIVNFLLQHSAKGNAKTKNGYTPLH	9.0	6.0	-	-	4348_10:61932862-61932862 A>C_KIVNFLLQHSAKGNAKTKNGYTPLH
8:145577156-145577156 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	TMEM249	uc003zby.4,p.R187Q|NM_001252402,p.R187Q|uc011llb.2,p.R187Q|ENST00000398633,p.R187Q|NM_001280561,p.R187Q	retained_intron, protein_coding	uc011llb.2	nonsynonymous SNV	exon5	c.G560A	p.R187Q	YEQMEYLGRYIARKLNINYFDYLAT	YEQMEYLGRYIAQKLNINYFDYLAT	1.0	4.0	-	-	4348_8:145577156-145577156 C>T_YEQMEYLGRYIAQKLNINYFDYLAT
1:248202381-248202381 A>G	0.0	4348	ESOPHAGEAL	-	-	-	-	OR2L2	uc001idw.3,p.K271R|NM_001004686,p.K271R|ENST00000366479,p.K271R	protein_coding	uc001idw.3	nonsynonymous SNV	exon1	c.A812G	p.K271R	VRPRSLRSPTEDKILAVFYTILTPM	VRPRSLRSPTEDRILAVFYTILTPM	1.0	7.0	-	-	4348_1:248202381-248202381 A>G_VRPRSLRSPTEDRILAVFYTILTPM
6:85448257-85448257 G>C	0.0	4348	ESOPHAGEAL	-	-	-	-	TBX18	uc010kbq.2,p.R195G|ENST00000606784,p.R195G|NM_001080508,p.R353G|uc003pkl.2,p.R353G|ENST00000369663,p.R353G	protein_coding	uc010kbq.2	nonsynonymous SNV	exon7	c.C583G	p.R195G	LVESYAFWRPSLRTLTFEDIPGIPK	LVESYAFWRPSLGTLTFEDIPGIPK	1.0	3.0	-	-	4348_6:85448257-85448257 G>C_LVESYAFWRPSLGTLTFEDIPGIPK
1:247274854-247274854 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	C1orf229	NM_207401,p.G225R|uc001icg.1,p.G225R|ENST00000408893,p.G225R	protein_coding	uc001icg.1	nonsynonymous SNV	exon1	c.G673A	p.G225R	WRRRLLPAEVPPGAAAANFPERERL	WRRRLLPAEVPPRAAAANFPERERL	1.0	10.0	-	-	4348_1:247274854-247274854 C>T_WRRRLLPAEVPPRAAAANFPERERL
12:94654488-94654488 G>A	0.0	4348	ESOPHAGEAL	-	-	-	-	PLXNC1	ENST00000258526,p.V1108M|ENST00000547057,p.V155M|uc010sut.2,p.V155M|uc001tdc.3,p.V1108M|ENST00000549217,p.V149M|NM_005761,p.V1108M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sut.2	nonsynonymous SNV	exon5	c.G463A	p.V155M	QTKLVYLTSILEVLTRDLMEQCSNM	QTKLVYLTSILEMLTRDLMEQCSNM	4.0	3.0	-	-	4348_12:94654488-94654488 G>A_QTKLVYLTSILEMLTRDLMEQCSNM
10:99527437-99527437 C>A	0.0	4348	ESOPHAGEAL	-	-	-	-	SFRP5	ENST00000266066,p.G263V|NM_003015,p.G263V|uc001kor.4,p.G263V	protein_coding	uc001kor.4	nonsynonymous SNV	exon3	c.G788T	p.G263V	AGCPCPQLDSLAGSFLVMGRKVDGQ	AGCPCPQLDSLAVSFLVMGRKVDGQ	1.0	9.0	-	-	4348_10:99527437-99527437 C>A_AGCPCPQLDSLAVSFLVMGRKVDGQ
9:14824068-14824068 T>G	0.0	4348	ESOPHAGEAL	-	-	-	-	FREM1	uc003zlm.3,p.K708N|ENST00000380880,p.K708N|ENST00000422223,p.K708N|NM_144966,p.K708N|ENST00000380875,p.K708N|ENST00000380881,p.K709N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zlm.3	nonsynonymous SNV	exon13	c.A2124C	p.K708N	DAGKLFMVDSIPKVVKNPTALELRS	DAGKLFMVDSIPNVVKNPTALELRS	4.0	9.0	-	-	4348_9:14824068-14824068 T>G_DAGKLFMVDSIPNVVKNPTALELRS
5:140476214-140476214 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	PCDHB2	uc003lim.1,p.P275S|NM_018936,p.P614S|uc003lil.3,p.P614S|ENST00000194155,p.P614S	protein_coding	uc003lim.1	nonsynonymous SNV	exon2	c.C823T	p.P275S	AWLSYQLLKATEPGLFGVWAHNGEV	AWLSYQLLKATESGLFGVWAHNGEV	4.0	9.0	-	-	4348_5:140476214-140476214 C>T_AWLSYQLLKATESGLFGVWAHNGEV
4:40440484-40440484 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	RBM47	uc003gvg.1,p.G143S|ENST00000510871,p.G143S|uc003gvd.2,p.G143S|ENST00000515053,p.G143S|ENST00000381795,p.G143S|ENST00000381793,p.G143S|NM_001098634,p.G143S|ENST00000319592,p.G143S|ENST00000295971,p.G143S|ENST00000514014,p.G105S|ENST00000513473,p.G143S|ENST00000505414,p.G143S|NM_019027,p.G143S|uc003gvc.2,p.G143S|uc011bys.1,p.G105S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bys.1	nonsynonymous SNV	exon3	c.G313A	p.G105S	LNNYEIRPGRLLGVCCSVDNCRLFI	LNNYEIRPGRLLSVCCSVDNCRLFI	8.0	10.0	-	-	4348_4:40440484-40440484 C>T_LNNYEIRPGRLLSVCCSVDNCRLFI
5:140773194-140773194 G>C	0.0	4348	ESOPHAGEAL	-	-	-	-	PCDHGA8	uc003lkb.4,p.G272R|ENST00000398604,p.G272R|NM_014004,p.G272R|NM_032088,p.G272R|uc003lkd.2,p.G272R	protein_coding	uc003lkd.2	nonsynonymous SNV	exon1	c.G814C	p.G272R	RLLTVTASDPDEGINGKVAYKFRKI	RLLTVTASDPDERINGKVAYKFRKI	2.0	8.0	-	-	4348_5:140773194-140773194 G>C_RLLTVTASDPDERINGKVAYKFRKI
4:47570953-47570953 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	ATP10D	uc003gxk.1,p.P985S|uc003gxl.1,p.P233S|NM_020453,p.P985S|ENST00000273859,p.P985S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gxl.1	nonsynonymous SNV	exon9	c.C697T	p.P233S	PEQVSLSEDLLQPPVPRDSGLRAGL	PEQVSLSEDLLQSPVPRDSGLRAGL	6.0	3.0	-	-	4348_4:47570953-47570953 C>T_PEQVSLSEDLLQSPVPRDSGLRAGL
2:130951837-130951837 G>A	0.0	4348	ESOPHAGEAL	-	-	ID=COSM3836815;OCCURENCE=1(breast)	-	TUBA3E	uc002tqv.3,p.T193M|ENST00000312988,p.T193M|NM_207312,p.T193M	protein_coding	uc002tqv.3	nonsynonymous SNV	exon4	c.C578T	p.T193M	VVEPYNSILTTHTTLEHSDCAFMVD	VVEPYNSILTTHMTLEHSDCAFMVD	1.0	8.0	-	-	4348_2:130951837-130951837 G>A_VVEPYNSILTTHMTLEHSDCAFMVD
10:37436357-37436357 A>C	0.0	4348	ESOPHAGEAL	-	-	ID=COSM1347715;OCCURENCE=2(large_intestine)	-	ANKRD30A	uc001iza.1,p.K449N|ENST00000374660,p.K449N|NM_052997,p.K449N|ENST00000602533,p.K449N|uc021ppc.1,p.K449N|ENST00000361713,p.K449N	protein_coding, processed_transcript	uc021ppc.1	nonsynonymous SNV	exon9	c.A1347C	p.K449N	KIQVCIPESIYQKVMEINREVEEPP	KIQVCIPESIYQNVMEINREVEEPP	1.0	7.0	-	-	4348_10:37436357-37436357 A>C_KIQVCIPESIYQNVMEINREVEEPP
12:80722855-80722855 C>G	0.0	4348	ESOPHAGEAL	-	-	-	-	OTOGL	NM_173591,p.P1426R|uc001szd.3,p.P1426R|ENST00000458043,p.P1426R	protein_coding, nonsense_mediated_decay	uc001szd.3	nonsynonymous SNV	exon36	c.C4277G	p.P1426R	YPRDCIPVIPTEPTLMPPAKPTVPM	YPRDCIPVIPTERTLMPPAKPTVPM	2.0	4.0	-	-	4348_12:80722855-80722855 C>G_YPRDCIPVIPTERTLMPPAKPTVPM
12:80722855-80722855 C>G	0.0	4348	ESOPHAGEAL	-	-	-	-	OTOGL	ENST00000547103,p.P1426R	protein_coding, nonsense_mediated_decay	ENST00000547103	nonsynonymous SNV	exon36	c.C4277G	p.P1426R	YPRDCIPVIPTEPTLMPPAKPTVPI	YPRDCIPVIPTERTLMPPAKPTVPI	2.0	4.0	unscreened	-	4348_12:80722855-80722855 C>G_YPRDCIPVIPTERTLMPPAKPTVPI
14:20871889-20871889 C>T	1.0	4348	ESOPHAGEAL	-	-	ID=COSM129658;OCCURENCE=1(large_intestine),1(endometrium),1(upper_aerodigestive_tract)	-	TEP1	NM_007110,p.R396H|ENST00000555727,p.R396H|ENST00000262715,p.R396H|uc001vxe.3,p.R396H	retained_intron, protein_coding, nonsense_mediated_decay	uc001vxe.3	nonsynonymous SNV	exon6	c.G1187A	p.R396H	KHRAKRHPRRPPRSPGMEPPFSHRC	KHRAKRHPRRPPHSPGMEPPFSHRC	10.0	5.0	-	-	4348_14:20871889-20871889 C>T_KHRAKRHPRRPPHSPGMEPPFSHRC
4:169632939-169632939 C>G	0.0	4348	ESOPHAGEAL	-	-	-	-	PALLD	uc011cjx.2,p.T610R|NM_001166109,p.T228R|ENST00000261509,p.T610R|ENST00000512127,p.T228R|uc003irv.3,p.T228R|uc003iru.3,p.T610R|ENST00000335742,p.T228R|ENST00000505667,p.T610R|NM_001166108,p.T610R|NM_016081,p.T610R	retained_intron, protein_coding	uc011cjx.2	nonsynonymous SNV	exon10	c.C1829G	p.T610R	ALQMQFNAAERETNGVHPSRGVNGL	ALQMQFNAAERERNGVHPSRGVNGL	10.0	9.0	-	-	4348_4:169632939-169632939 C>G_ALQMQFNAAERERNGVHPSRGVNGL
17:3704422-3704422 G>C	0.0	4348	ESOPHAGEAL	-	-	-	-	ITGAE	uc002fwo.4,p.T6S|NM_002208,p.T6S|ENST00000263087,p.T6S	retained_intron, protein_coding, processed_transcript	uc002fwo.4	nonsynonymous SNV	exon1	c.C17G	p.T6S	MWLFHTLLCIASLALLAA	MWLFHSLLCIASLALLAA	5.0	4.0	-	-	4348_17:3704422-3704422 G>C_MWLFHSLLCIASLALLAA
7:122338215-122338215 C>A	0.0	4348	ESOPHAGEAL	-	-	-	-	RNF133	ENST00000340112,p.G253V|uc003vkj.1,p.G253V|NM_139175,p.G253V	protein_coding	uc003vkj.1	nonsynonymous SNV	exon1	c.G758T	p.G253V	VVKEGDEEINPNGDSCVICFERYKP	VVKEGDEEINPNVDSCVICFERYKP	2.0	10.0	-	-	4348_7:122338215-122338215 C>A_VVKEGDEEINPNVDSCVICFERYKP
5:140723683-140723683 C>A	0.0	4348	ESOPHAGEAL	-	-	ID=COSM1650394,COSM590200;OCCURENCE=1(lung)	-	PCDHGA3	NM_032011,p.S28Y|uc011dap.2,p.S28Y|uc003ljm.2,p.S28Y|ENST00000253812,p.S28Y|NM_018916,p.S28Y	protein_coding	uc011dap.2	nonsynonymous SNV	exon1	c.C83A	p.S28Y	LCALLGTLCETGSGQIRYSVSEELD	LCALLGTLCETGYGQIRYSVSEELD	1.0	7.0	-	-	4348_5:140723683-140723683 C>A_LCALLGTLCETGYGQIRYSVSEELD
11:1861806-1861806 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	TNNI2	uc021qbt.1,p.R15C|uc021qbu.1,p.R15C	retained_intron, protein_coding	uc021qbu.1	nonsynonymous SNV	exon4	c.C43T	p.R15C	DEEKRNRAITARRQHLKSVMLQIAA	DEEKRNRAITARCQHLKSVMLQIAA	5.0	4.0	-	-	4348_11:1861806-1861806 C>T_DEEKRNRAITARCQHLKSVMLQIAA
19:48815263-48815263 G>C	0.0	4348	ESOPHAGEAL	-	-	-	-	CCDC114	ENST00000315396,p.N120K|uc002piu.1,p.N157K|NM_144577,p.N120K|uc002pit.1,p.N157K|uc002pir.2,p.N120K|uc002pio.3,p.N157K	retained_intron, protein_coding, processed_transcript	uc002piu.1	nonsynonymous SNV	exon6	c.C471G	p.N157K	KVKIRRRIRILENQLDRVTCHFDNQ	KVKIRRRIRILEKQLDRVTCHFDNQ	1.0	8.0	-	-	4348_19:48815263-48815263 G>C_KVKIRRRIRILEKQLDRVTCHFDNQ
19:44571111-44571111 G>A	0.0	4348	ESOPHAGEAL	-	-	-	-	ZNF223	NM_013361,p.C377Y|ENST00000591793,p.C487Y|ENST00000434772,p.C377Y|uc002oyf.1,p.C377Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc002oyf.1	nonsynonymous SNV	exon5	c.G1130A	p.C377Y	VHTGEKPYKCDKCGKSYITKSGLDL	VHTGEKPYKCDKYGKSYITKSGLDL	9.0	7.0	unscreened	-	4348_19:44571111-44571111 G>A_VHTGEKPYKCDKYGKSYITKSGLDL
5:140242538-140242538 A>C	0.0	4348	ESOPHAGEAL	-	-	-	-	PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9	uc003lhy.1,p.N146K|ENST00000502505,p.N146K	protein_coding	uc003lhy.1	nonsynonymous SNV	exon1	c.T438G	p.N146K	CAPSPPSGLHPLNTAPAHSQRRQPT	CAPSPPSGLHPLKTAPAHSQRRQPT	1.0	9.0	unscreened	-	4348_5:140242538-140242538 A>C_CAPSPPSGLHPLKTAPAHSQRRQPT
3:195513503-195513503 G>C	1.0	4348	ESOPHAGEAL	-	-	-	2	MUC4	ENST00000466475,p.H1650D|NM_018406,p.H1650D|ENST00000479406,p.H1650D|ENST00000470451,p.H1650D|ENST00000480843,p.H1650D|ENST00000462323,p.H1650D|ENST00000478156,p.H1650D|ENST00000477756,p.H1650D|uc021xjp.1,p.H1650D|ENST00000463781,p.H1650D|ENST00000475231,p.H1650D|ENST00000477086,p.H1650D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C4948G	p.H1650D	ASSLSTGHATPLHVTSPSSASTGHA	ASSLSTGHATPLDVTSPSSASTGHA	10.0	5.0	unscreened	-	4348_3:195513503-195513503 G>C_ASSLSTGHATPLDVTSPSSASTGHA
7:136700337-136700337 A>C	0.0	4348	ESOPHAGEAL	-	-	-	-	CHRM2	NM_001006629,p.K242T|NM_001006628,p.K242T|uc003vtk.1,p.K242T|uc003vtl.1,p.K242T|uc003vtn.1,p.K242T|uc003vtj.1,p.K242T|ENST00000445907,p.K242T|NM_001006630,p.K242T|ENST00000453373,p.K242T|uc003vtf.1,p.K242T|NM_000739,p.K242T|uc003vtg.1,p.K242T|uc003vto.1,p.K242T|ENST00000402486,p.K242T|ENST00000397608,p.K242T|ENST00000401861,p.K242T|NM_001006631,p.K242T|NM_001006626,p.K242T|uc003vtm.1,p.K242T|uc003vti.1,p.K242T|ENST00000320658,p.K242T|NM_001006632,p.K242T|uc022ame.1,p.K242T|NM_001006627,p.K242T	protein_coding, processed_transcript	uc022ame.1	nonsynonymous SNV	exon1	c.A725C	p.K242T	PVSPSLVQGRIVKPNNNNMPSSDDG	PVSPSLVQGRIVTPNNNNMPSSDDG	1.0	9.0	-	-	4348_7:136700337-136700337 A>C_PVSPSLVQGRIVTPNNNNMPSSDDG
6:31615479-31615479 T>C	0.0	4348	ESOPHAGEAL	-	-	-	-	BAG6	ENST00000456622,p.E208G|uc003nvg.4,p.E232G|ENST00000437771,p.E226G|NM_001098534,p.E226G|uc003nvh.4,p.E226G|ENST00000362049,p.E226G|uc003nvi.4,p.E226G|ENST00000404765,p.E226G|ENST00000375964,p.E232G|NM_004639,p.E232G|ENST00000424480,p.E226G|NM_001199698,p.E226G|ENST00000375976,p.E226G|NM_001199697,p.E226G|NM_080702,p.E226G|NM_080703,p.E226G|ENST00000211379,p.E226G|ENST00000452994,p.E226G|ENST00000439687,p.E226G|ENST00000451898,p.E208G|uc011dnw.2,p.E226G|uc003nvf.4,p.E226G|ENST00000433828,p.E226G|ENST00000434444,p.E208G|ENST00000428326,p.E226G|ENST00000435080,p.E226G|uc011dnx.2,p.E226G	retained_intron, protein_coding, processed_transcript	uc011dnx.2	nonsynonymous SNV	exon7	c.A677G	p.E226G	TSEPVESEAPPREPMEAEEVEERAP	TSEPVESEAPPRGPMEAEEVEERAP	9.0	4.0	-	-	4348_6:31615479-31615479 T>C_TSEPVESEAPPRGPMEAEEVEERAP
1:158817531-158817531 A>G	0.0	4348	ESOPHAGEAL	-	-	ID=COSM1335282;OCCURENCE=1(large_intestine)	-	MNDA	NM_002432,p.K334R|uc001fsz.1,p.K334R|ENST00000368141,p.K334R	protein_coding, processed_transcript	uc001fsz.1	nonsynonymous SNV	exon6	c.A1001G	p.K334R	YGLFMLQKKSVHKKNTIYEIQDNTG	YGLFMLQKKSVHRKNTIYEIQDNTG	4.0	10.0	-	-	4348_1:158817531-158817531 A>G_YGLFMLQKKSVHRKNTIYEIQDNTG
11:1017826-1017826 G>T	0.0	4348	ESOPHAGEAL	-	-	-	-	MUC6	ENST00000421673,p.L1659I|NM_005961,p.L1659I|uc001lsw.2,p.L1659I	protein_coding	uc001lsw.2	nonsynonymous SNV	exon31	c.C4975A	p.L1659I	SMPTGTIPPPTTLKATGSTHTAPTM	SMPTGTIPPPTTIKATGSTHTAPTM	1.0	2.0	unscreened	-	4348_11:1017826-1017826 G>T_SMPTGTIPPPTTIKATGSTHTAPTM
18:50451723-50451723 C>A	0.0	4348	ESOPHAGEAL	-	-	-	2	DCC	ENST00000412726,p.A171E|ENST00000442544,p.A323E|uc010xdr.1,p.A171E|uc002lfe.2,p.A323E|NM_005215,p.A323E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdr.1	nonsynonymous SNV	exon5	c.C512A	p.A171E	VVTYKNENISASAELTVLVPPWFLN	VVTYKNENISASEELTVLVPPWFLN	2.0	6.0	-	-	4348_18:50451723-50451723 C>A_VVTYKNENISASEELTVLVPPWFLN
1:158687082-158687082 A>G	0.0	4348	ESOPHAGEAL	-	-	-	-	OR6K3	NM_001005327,p.L275P|ENST00000368146,p.L291P|ENST00000368145,p.L275P|uc021pbn.1,p.L275P	protein_coding	uc021pbn.1	nonsynonymous SNV	exon1	c.T824C	p.L275P	DTYPPVLDTAIALMFTVLAPFFNPI	DTYPPVLDTAIAPMFTVLAPFFNPI	1.0	2.0	-	-	4348_1:158687082-158687082 A>G_DTYPPVLDTAIAPMFTVLAPFFNPI
3:97454896-97454896 T>A	0.0	4348	ESOPHAGEAL	-	-	-	-	EPHA6	uc003drt.4,p.V413D|ENST00000389672,p.V1021D|ENST00000477384,p.V345D|uc010how.1,p.V1021D|NM_001080448,p.V1021D	protein_coding, nonsense_mediated_decay	uc010how.1	nonsynonymous SNV	exon16	c.T3062A	p.V1021D	KERNHRPKFTDIVSFLDKLIRNPSA	KERNHRPKFTDIDSFLDKLIRNPSA	3.0	8.0	-	-	4348_3:97454896-97454896 T>A_KERNHRPKFTDIDSFLDKLIRNPSA
1:158914761-158914761 A>C	0.0	4348	ESOPHAGEAL	-	-	-	-	PYHIN1	NM_198928,p.T421P|ENST00000368140,p.T430P|uc001ftd.3,p.T430P|NM_152501,p.T430P|ENST00000392252,p.T421P|ENST00000392254,p.T430P|uc001ftc.3,p.T421P|NM_198930,p.T421P|uc001fte.3,p.T421P|uc001ftb.3,p.T430P|NM_198929,p.T430P|ENST00000368138,p.T421P	protein_coding, processed_transcript	uc001fte.3	nonsynonymous SNV	exon7	c.A1261C	p.T421P	QSQHPKPSEASTTLPESHLKTPQMP	QSQHPKPSEASTPLPESHLKTPQMP	2.0	5.0	-	-	4348_1:158914761-158914761 A>C_QSQHPKPSEASTPLPESHLKTPQMP
6:32029351-32029351 C>T	0.0	4348	ESOPHAGEAL	-	-	ID=COSM1077791,COSM1596284;OCCURENCE=1(endometrium)	-	TNXB	ENST00000375247,p.D2439N|uc003nzl.2,p.D2439N|ENST00000375244,p.D2439N|NM_019105,p.D2439N	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon21	c.G7315A	p.D2439N	LSLSWTVPQGRFDSFTVQYKDRDGR	LSLSWTVPQGRFNSFTVQYKDRDGR	2.0	9.0	-	-	4348_6:32029351-32029351 C>T_LSLSWTVPQGRFNSFTVQYKDRDGR
8:27779352-27779352 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	SCARA5	uc003xgj.3,p.E218K|uc003xgl.3,p.E218K|uc003xgk.3,p.E175K|ENST00000524352,p.E218K|NM_173833,p.E218K|ENST00000301906,p.E175K|ENST00000518030,p.E175K|ENST00000354914,p.E218K	protein_coding	uc003xgl.3	nonsynonymous SNV	exon4	c.G652A	p.E218K	LDGLARRVGILGEELADVGGVLRGL	LDGLARRVGILGKELADVGGVLRGL	1.0	4.0	-	-	4348_8:27779352-27779352 C>T_LDGLARRVGILGKELADVGGVLRGL
10:25886778-25886778 ->A	0.0	4348	ESOPHAGEAL	-	-	-	-	GPR158	uc001isj.3,p.Q741fs|uc001isk.3,p.Q116fs|ENST00000376351,p.Q741fs|NM_020752,p.Q741fs	protein_coding, processed_transcript	uc001isk.3	frameshift insertion	exon3	c.349dupA	p.Q116fs	KRKKMITNNPHLQKKRCSKKGLGRS	KRKKMITNNPHLQKKAVLEEGPRSFHHETHYGDPRDSQPAVL	2.0	6.0	-	-	4348_10:25886778-25886778 ->A_KRKKMITNNPHLQKKAVLEEGPRSFHHETHYGDPRDSQPAVL
14:105419560-105419560 A>C	0.0	4348	ESOPHAGEAL	-	-	-	-	AHNAK2	uc001ypx.2,p.L643R|uc010axc.1,p.L743R|NM_138420,p.L743R|ENST00000333244,p.L743R	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.T2228G	p.L743R	DLEVQDGQVDVKLPEGPLPEGASLK	DLEVQDGQVDVKRPEGPLPEGASLK	6.0	8.0	-	-	4348_14:105419560-105419560 A>C_DLEVQDGQVDVKRPEGPLPEGASLK
19:38376584-38376584 G>A	0.0	4348	ESOPHAGEAL	0.0009	-	ID=COSM1168873;OCCURENCE=1(pancreas),1(large_intestine)	-	WDR87	uc010efu.2,p.A2537V|ENST00000447313,p.A2576V|NM_031951,p.A2537V|NM_001291088,p.A2576V|uc002ohj.2,p.A2576V|ENST00000303868,p.A2537V	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon6	c.C7610T	p.A2537V	VEWIRHVLERMEAGEQLSRDGFHRL	VEWIRHVLERMEVGEQLSRDGFHRL	1.0	8.0	-	-	4348_19:38376584-38376584 G>A_VEWIRHVLERMEVGEQLSRDGFHRL
1:22919840-22919840 T>C	0.0	4348	ESOPHAGEAL	-	-	-	-	EPHA8	NM_020526,p.I446T|ENST00000166244,p.I446T|uc001bfx.1,p.I446T	protein_coding	uc001bfx.1	nonsynonymous SNV	exon6	c.T1337C	p.I446T	TTNQAAPSQVVVIRQERAGQTSVSL	TTNQAAPSQVVVTRQERAGQTSVSL	1.0	9.0	-	-	4348_1:22919840-22919840 T>C_TTNQAAPSQVVVTRQERAGQTSVSL
1:13111596-13111596 C>A	0.0	4348	ESOPHAGEAL	-	-	-	-	PRAMEF5	ENST00000414205,p.R140M|uc001aus.1,p.R140M|uc001aur.2,p.R140M|ENST00000376192,p.R140M|ENST00000376182,p.R140M|NM_001013407,p.R140M	protein_coding	uc001aus.1	nonsynonymous SNV	exon3	c.G419T	p.R140M	AKRNKKPVQDCPRMRGQQPLTVFVE	AKRNKKPVQDCPMMRGQQPLTVFVE	1.0	6.0	-	-	4348_1:13111596-13111596 C>A_AKRNKKPVQDCPMMRGQQPLTVFVE
16:64984709-64984709 C>T	0.0	4348	ESOPHAGEAL	-	-	-	1	CDH11	ENST00000566827,p.A493T|uc002eoi.3,p.A619T|ENST00000394156,p.A619T|NM_001797,p.A619T|ENST00000268603,p.A619T|uc002eoj.3,p.A619T|uc010vin.2,p.A493T	retained_intron, protein_coding, processed_transcript	uc010vin.2	nonsynonymous SNV	exon11	c.G1477A	p.A493T	EAYILNAGLSTGALIAILACIVILL	EAYILNAGLSTGTLIAILACIVILL	4.0	8.0	-	-	4348_16:64984709-64984709 C>T_EAYILNAGLSTGTLIAILACIVILL
5:159344615-159344615 A>G	0.0	4348	ESOPHAGEAL	-	-	-	-	ADRA1B	uc003lxt.1,p.K235E|ENST00000306675,p.K235E|NM_000679,p.K235E	protein_coding	uc003lxt.1	nonsynonymous SNV	exon1	c.A703G	p.K235E	YCRVYIVAKRTTKNLEAGVMKEMSN	YCRVYIVAKRTTENLEAGVMKEMSN	1.0	1.0	-	-	4348_5:159344615-159344615 A>G_YCRVYIVAKRTTENLEAGVMKEMSN
18:56202938-56202938 A>G	0.0	4348	ESOPHAGEAL	-	-	-	-	ALPK2	NM_052947,p.V1494A|uc002lhj.4,p.V1494A|ENST00000361673,p.V1494A|uc002lhk.1,p.V825A	retained_intron, protein_coding, processed_transcript	uc002lhk.1	nonsynonymous SNV	exon1	c.T2474C	p.V825A	IQPEEAKTAIWQVLQPSEGGERIPS	IQPEEAKTAIWQALQPSEGGERIPS	1.0	7.0	-	-	4348_18:56202938-56202938 A>G_IQPEEAKTAIWQALQPSEGGERIPS
1:104162234-104162234 G>A	0.0	4348	ESOPHAGEAL	-	-	-	-	AMY2A	ENST00000414303,p.R191H|NM_000699,p.R191H|uc001dut.3,p.R191H|uc010ouq.1,p.R191H	protein_coding, processed_transcript	uc010ouq.1	nonsynonymous SNV	exon4	c.G572A	p.R191H	GLLDLALEKDYVRSKIAEYMNHLID	GLLDLALEKDYVHSKIAEYMNHLID	5.0	3.0	-	-	4348_1:104162234-104162234 G>A_GLLDLALEKDYVHSKIAEYMNHLID
8:68062119-68062119 T>G	0.0	4348	ESOPHAGEAL	-	-	-	-	CSPP1	ENST00000262210,p.L688V|NM_024790,p.L688V|uc003xxg.1,p.L715V|uc003xxi.3,p.L723V|uc003xxj.3,p.L688V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003xxj.3	nonsynonymous SNV	exon16	c.T2062G	p.L688V	EDKRAVVSLDPNLATSNAENLEDAA	EDKRAVVSLDPNVATSNAENLEDAA	6.0	8.0	-	-	4348_8:68062119-68062119 T>G_EDKRAVVSLDPNVATSNAENLEDAA
4:65155450-65155450 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	TECRL	ENST00000507440,p.M270I|uc003hcv.3,p.M270I|ENST00000381210,p.M270I|NM_001010874,p.M270I	retained_intron, protein_coding, processed_transcript	uc003hcv.3	nonsynonymous SNV	exon9	c.G810A	p.M270I	LICEAGNHFINVMLSHPNHTGNNAC	LICEAGNHFINVILSHPNHTGNNAC	1.0	6.0	-	-	4348_4:65155450-65155450 C>T_LICEAGNHFINVILSHPNHTGNNAC
1:156593921-156593921 C>G	0.0	4348	ESOPHAGEAL	-	-	-	-	HAPLN2	ENST00000255039,p.D136E|uc001fpn.1,p.D136E|NM_021817,p.D136E|ENST00000456112,p.D136E	protein_coding, processed_transcript	uc001fpn.1	nonsynonymous SNV	exon4	c.C408G	p.D136E	GRYRCELINGIEDESVALTLSLEGV	GRYRCELINGIEEESVALTLSLEGV	1.0	5.0	-	-	4348_1:156593921-156593921 C>G_GRYRCELINGIEEESVALTLSLEGV
3:89390186-89390186 G>A	0.0	4348	ESOPHAGEAL	-	-	ID=COSM1425655,COSM1425654;OCCURENCE=2(liver),1(large_intestine)	2	EPHA3	NM_182644,p.R312Q|ENST00000452448,p.R312Q|uc003dqx.1,p.R312Q|uc003dqy.3,p.R312Q|ENST00000336596,p.R312Q|NM_005233,p.R312Q|uc021xbf.1,p.R312Q|ENST00000494014,p.R312Q	protein_coding	uc021xbf.1	nonsynonymous SNV	exon4	c.G935A	p.R312Q	GSMNCRCENNYFRADKDPPSMACTR	GSMNCRCENNYFQADKDPPSMACTR	1.0	6.0	-	-	4348_3:89390186-89390186 G>A_GSMNCRCENNYFQADKDPPSMACTR
16:202992-202992 G>T	0.0	4348	ESOPHAGEAL	-	-	-	-	HBZ	ENST00000252951,p.E28D|NM_005332,p.E28D|uc002cft.1,p.E28D	protein_coding	uc002cft.1	nonsynonymous SNV	exon1	c.G84T	p.E28D	AKISTQADTIGTETLERLFLSHPQT	AKISTQADTIGTDTLERLFLSHPQT	1.0	2.0	-	-	4348_16:202992-202992 G>T_AKISTQADTIGTDTLERLFLSHPQT
12:130647621-130647621 T>G	0.0	4348	ESOPHAGEAL	-	-	-	-	FZD10	NM_007197,p.I45S|uc001uii.3,p.I45S|ENST00000229030,p.I45S	protein_coding	uc001uii.3	nonsynonymous SNV	exon1	c.T134G	p.I45S	KCQPIEIPMCKDIGYNMTRMPNLMG	KCQPIEIPMCKDSGYNMTRMPNLMG	1.0	5.0	-	-	4348_12:130647621-130647621 T>G_KCQPIEIPMCKDSGYNMTRMPNLMG
20:34021739-34021739 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	GDF5	NM_000557,p.D492N|ENST00000374372,p.D492N|uc002xck.1,p.D492N|ENST00000374369,p.D492N	protein_coding	uc002xck.1	nonsynonymous SNV	exon2	c.G1474A	p.D492N	DSANNVVYKQYEDMVVESCGCR	DSANNVVYKQYENMVVESCGCR	1.0	8.0	-	-	4348_20:34021739-34021739 C>T_DSANNVVYKQYENMVVESCGCR
11:73021863-73021863 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	ARHGEF17	uc001otu.3,p.A727V|ENST00000263674,p.A727V|NM_014786,p.A727V	retained_intron, protein_coding, processed_transcript	uc001otu.3	nonsynonymous SNV	exon1	c.C2180T	p.A727V	SGSGGSELSNGEAGEAYRSLSDPIP	SGSGGSELSNGEVGEAYRSLSDPIP	3.0	2.0	-	-	4348_11:73021863-73021863 C>T_SGSGGSELSNGEVGEAYRSLSDPIP
20:34021739-34021739 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	GDF5	uc010gfc.1,p.D492N	protein_coding	uc010gfc.1	nonsynonymous SNV	exon2	c.G1474A	p.D492N	DSANNVVYKQYEDMVVESCGCSDPP	DSANNVVYKQYENMVVESCGCSDPP	1.0	8.0	-	-	4348_20:34021739-34021739 C>T_DSANNVVYKQYENMVVESCGCSDPP
17:36760811-36760811 C>A	0.0	4348	ESOPHAGEAL	-	-	-	-	SRCIN1	ENST00000584266,p.W15C|uc002hqh.1,p.W15C	retained_intron, protein_coding, processed_transcript	uc002hqh.1	nonsynonymous SNV	exon1	c.G45T	p.W15C	PWQCLRRFALAWWERTAEGRARSPR	PWQCLRRFALAWCERTAEGRARSPR	4.0	8.0	-	-	4348_17:36760811-36760811 C>A_PWQCLRRFALAWCERTAEGRARSPR
11:1093069-1093069 A>G	0.0	4348	ESOPHAGEAL	-	-	-	-	MUC2	ENST00000359061,p.T1597A	protein_coding	ENST00000359061	nonsynonymous SNV	exon31	c.A4789G	p.T1597A	TPITTTTTTPTPTAITTTTTVTPTP	TPITTTTTTPTPAAITTTTTVTPTP	5.0	1.0	unscreened	-	4348_11:1093069-1093069 A>G_TPITTTTTTPTPAAITTTTTVTPTP
7:53104030-53104030 A>C	0.0	4348	ESOPHAGEAL	-	-	-	-	POM121L12	uc003tpz.3,p.K222N|NM_182595,p.K222N|ENST00000408890,p.K222N	protein_coding	uc003tpz.3	nonsynonymous SNV	exon1	c.A666C	p.K222N	LQPRPSAFKPLSKNGAVASFVPRPG	LQPRPSAFKPLSNNGAVASFVPRPG	1.0	7.0	-	-	4348_7:53104030-53104030 A>C_LQPRPSAFKPLSNNGAVASFVPRPG
2:95540547-95540547 A>C	0.0	4348	ESOPHAGEAL	-	-	-	-	TEKT4	ENST00000295201,p.K247T|uc002stw.1,p.K247T|NM_144705,p.K247T|NM_001286559,p.K65T	retained_intron, protein_coding	uc002stw.1	nonsynonymous SNV	exon4	c.A740C	p.K247T	FQESASTPETRAKFTQDNLCRAQRE	FQESASTPETRATFTQDNLCRAQRE	1.0	6.0	-	-	4348_2:95540547-95540547 A>C_FQESASTPETRATFTQDNLCRAQRE
18:25573585-25573585 G>A	0.0	4348	ESOPHAGEAL	-	-	ID=COSM563683;OCCURENCE=1(lung)	-	CDH2	ENST00000269141,p.T346M|NM_001792,p.T346M|uc010xbn.1,p.T315M|ENST00000399380,p.T315M|uc002kwg.2,p.T346M	protein_coding	uc010xbn.1	nonsynonymous SNV	exon7	c.C944T	p.T315M	AAGLDREKVQQYTLIIQATDMEGNP	AAGLDREKVQQYMLIIQATDMEGNP	1.0	5.0	-	-	4348_18:25573585-25573585 G>A_AAGLDREKVQQYMLIIQATDMEGNP
11:1093069-1093069 A>G	0.0	4348	ESOPHAGEAL	-	-	-	-	MUC2	ENST00000441003,p.T1630A	protein_coding	ENST00000441003	nonsynonymous SNV	exon30	c.A4888G	p.T1630A	TPTPTGTQTPTPTAITTTTTVTPTP	TPTPTGTQTPTPAAITTTTTVTPTP	5.0	1.0	unscreened	-	4348_11:1093069-1093069 A>G_TPTPTGTQTPTPAAITTTTTVTPTP
21:47581508-47581508 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	SPATC1L	uc002zii.3,p.V116M|uc011afu.2,p.V270M|ENST00000291672,p.V270M|NM_032261,p.V116M|NM_001142854,p.V270M|ENST00000330205,p.V116M	protein_coding	uc011afu.2	nonsynonymous SNV	exon5	c.G808A	p.V270M	SARLEKLGYSRDVHPAFSEFLINTY	SARLEKLGYSRDMHPAFSEFLINTY	2.0	2.0	-	-	4348_21:47581508-47581508 C>T_SARLEKLGYSRDMHPAFSEFLINTY
1:203134713-203134713 G>A	0.0	4348	ESOPHAGEAL	-	-	ID=COSM1337968;OCCURENCE=1(large_intestine)	-	ADORA1	uc009xak.1,p.A148T	protein_coding, processed_transcript	uc009xak.1	nonsynonymous SNV	exon4	c.G442A	p.A148T	AQQEGVGLLRRPAEVLWEGAEDRQV	AQQEGVGLLRRPTEVLWEGAEDRQV	2.0	7.0	-	-	4348_1:203134713-203134713 G>A_AQQEGVGLLRRPTEVLWEGAEDRQV
11:20950015-20950015 G>T	0.0	4348	ESOPHAGEAL	-	-	ID=COSM542126;OCCURENCE=1(lung)	-	NELL1	uc009yid.3,p.K357N|ENST00000357134,p.K329N|uc001mqf.3,p.K329N|NM_201551,p.K329N|uc001mqe.3,p.K329N|uc010rdp.2,p.K89N|NM_001288714,p.K272N|ENST00000532434,p.K329N|NM_006157,p.K329N|uc010rdo.2,p.K272N|NM_001288713,p.K357N|ENST00000325319,p.K272N|ENST00000298925,p.K357N	retained_intron, protein_coding, processed_transcript	uc010rdp.2	nonsynonymous SNV	exon6	c.G267T	p.K89N	DSLPVHIAGQCCKVCRPKCIYGGKV	DSLPVHIAGQCCNVCRPKCIYGGKV	4.0	6.0	-	-	4348_11:20950015-20950015 G>T_DSLPVHIAGQCCNVCRPKCIYGGKV
22:50500035-50500035 C>T	0.0	4348	ESOPHAGEAL	-	-	ID=COSM240675;OCCURENCE=1(prostate)	-	MLC1	ENST00000535444,p.V292I|ENST00000431262,p.V341I|uc011arm.1,p.V341I|ENST00000311597,p.V371I|ENST00000538737,p.V337I|ENST00000450140,p.V319I|NM_015166,p.V371I|uc011arl.1,p.V319I|NM_139202,p.V371I|uc011aro.1,p.V337I|uc003bjg.1,p.V371I|ENST00000395876,p.V371I|uc003bjh.1,p.V371I|uc011arn.1,p.V292I	protein_coding, processed_transcript	uc011aro.1	nonsynonymous SNV	exon11	c.G1009A	p.V337I	LKEFDKEKAWRAVVVQMAQ	LKEFDKEKAWRAIVVQMAQ	1.0	3.0	-	-	4348_22:50500035-50500035 C>T_LKEFDKEKAWRAIVVQMAQ
11:5153407-5153407 T>C	0.0	4348	ESOPHAGEAL	-	-	-	-	OR52A5	ENST00000307388,p.I156V|NM_001005160,p.I156V|uc010qyx.2,p.I156V	protein_coding	uc010qyx.2	nonsynonymous SNV	exon1	c.A466G	p.I156V	THIGLGVTLRAAILIIPSLGLIKCC	THIGLGVTLRAAVLIIPSLGLIKCC	1.0	5.0	-	-	4348_11:5153407-5153407 T>C_THIGLGVTLRAAVLIIPSLGLIKCC
2:228883411-228883411 G>A	0.0	4348	ESOPHAGEAL	-	-	-	-	SPHKAP	ENST00000392056,p.T720M|uc002vpq.2,p.T720M|uc002vpp.2,p.T720M|ENST00000344657,p.T720M|NM_030623,p.T720M|uc010zlx.1,p.T720M|NM_001142644,p.T720M	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.C2159T	p.T720M	STNQLLLDVICFTFKKMSHIVRLGE	STNQLLLDVICFMFKKMSHIVRLGE	1.0	4.0	-	-	4348_2:228883411-228883411 G>A_STNQLLLDVICFMFKKMSHIVRLGE
12:130647621-130647621 T>G	0.0	4348	ESOPHAGEAL	-	-	-	-	FZD10	ENST00000539839,p.H12Q	protein_coding	ENST00000539839	nonsynonymous SNV	exon1	c.T36G	p.H12Q	MPAHRDPDVQGHRLQHDSYAQPDG	MPAHRDPDVQGQRLQHDSYAQPDG	1.0	5.0	unscreened	-	4348_12:130647621-130647621 T>G_MPAHRDPDVQGQRLQHDSYAQPDG
22:26304299-26304299 G>A	0.0	4348	ESOPHAGEAL	-	-	-	-	MYO18B	uc011akb.1,p.R1233Q|NM_032608,p.R1720Q|uc003aca.1,p.R1601Q|uc010guz.1,p.R1600Q|ENST00000536101,p.R1720Q|uc011aka.1,p.R874Q|ENST00000335473,p.R1720Q|uc010guy.1,p.R1602Q|uc003abz.1,p.R1720Q|ENST00000407587,p.R1721Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akb.1	nonsynonymous SNV	exon28	c.G3698A	p.R1233Q	ENTIKQLEQLRQRFELEIERMKQMH	ENTIKQLEQLRQQFELEIERMKQMH	1.0	6.0	-	-	4348_22:26304299-26304299 G>A_ENTIKQLEQLRQQFELEIERMKQMH
9:136083528-136083528 T>A	0.0	4348	ESOPHAGEAL	-	rs3192921	ID=COSM3847955,COSM3847956;OCCURENCE=2(breast)	-	OBP2B	NM_014581,p.Y90F|uc004ccz.3,p.Y90F|NM_001288987,p.Y90F|ENST00000372034,p.Y90F|uc011mcy.2,p.Y22F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mcy.2	nonsynonymous SNV	exon2	c.A65T	p.Y22F	KILMRKTEEPGKYSAYGGRKLMYLQ	KILMRKTEEPGKFSAYGGRKLMYLQ	1.0	3.0	-	-	4348_9:136083528-136083528 T>A_KILMRKTEEPGKFSAYGGRKLMYLQ
9:136083528-136083528 T>A	0.0	4348	ESOPHAGEAL	-	rs3192921	ID=COSM3847955,COSM3847956;OCCURENCE=2(breast)	-	OBP2B	ENST00000473737,p.Y90F	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000473737	nonsynonymous SNV	exon3	c.A269T	p.Y90F	KILMRKTEEPGKYSACLSAVEMDQI	KILMRKTEEPGKFSACLSAVEMDQI	1.0	3.0	unscreened	-	4348_9:136083528-136083528 T>A_KILMRKTEEPGKFSACLSAVEMDQI
17:32614660-32614660 A>G	0.0	4348	ESOPHAGEAL	-	-	-	-	CCL11	NM_002986,p.Q82R|ENST00000305869,p.Q82R|uc002hia.1,p.Q82R	protein_coding	uc002hia.1	nonsynonymous SNV	exon3	c.A245G	p.Q82R	KDICADPKKKWVQDSMKYLDQKSPT	KDICADPKKKWVRDSMKYLDQKSPT	1.0	5.0	-	-	4348_17:32614660-32614660 A>G_KDICADPKKKWVRDSMKYLDQKSPT
9:1051972-1051972 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	DMRT2	NM_181872,p.T120M|uc011llv.2,p.T120M|ENST00000358146,p.T120M|ENST00000259622,p.T120M|NM_001130865,p.T120M|ENST00000302441,p.T120M|ENST00000382255,p.T120M|uc011llt.2,p.T120M|ENST00000382251,p.T120M|NM_006557,p.T120M|uc003zhb.4,p.T120M|uc022bcw.1,p.T120M|ENST00000412350,p.T120M|uc003zha.3,p.T120M	protein_coding	uc022bcw.1	nonsynonymous SNV	exon2	c.C359T	p.T120M	AGGGAEPRKLSRTPKCARCRNHGVV	AGGGAEPRKLSRMPKCARCRNHGVV	1.0	4.0	-	-	4348_9:1051972-1051972 C>T_AGGGAEPRKLSRMPKCARCRNHGVV
11:14839749-14839749 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	PDE3B	uc010rcr.2,p.P464S|NM_000922,p.P515S|uc001mln.3,p.P515S|ENST00000282096,p.P515S|ENST00000455098,p.P464S	protein_coding, processed_transcript	uc010rcr.2	nonsynonymous SNV	exon6	c.C1390T	p.P464S	GLRRAGVLSSLSPVNSSNHGPVSTG	GLRRAGVLSSLSSVNSSNHGPVSTG	5.0	3.0	-	-	4348_11:14839749-14839749 C>T_GLRRAGVLSSLSSVNSSNHGPVSTG
16:1823809-1823809 G>C	0.0	4348	ESOPHAGEAL	-	-	-	-	EME2	uc002cmq.1,p.W117C|ENST00000568449,p.W117C|ENST00000307394,p.W117C|uc010brw.1,p.W117C|NM_001257370,p.W117C	retained_intron, protein_coding, nonsense_mediated_decay	uc010brw.1	nonsynonymous SNV	exon2	c.G351C	p.W117C	RIEPQRPARSLRWTRASPDPCPRSL	RIEPQRPARSLRCTRASPDPCPRSL	5.0	5.0	-	-	4348_16:1823809-1823809 G>C_RIEPQRPARSLRCTRASPDPCPRSL
11:1861806-1861806 C>T	0.0	4348	ESOPHAGEAL	-	-	-	-	TNNI2	ENST00000381905,p.R36C|ENST00000381911,p.R36C|ENST00000252898,p.R36C|ENST00000381906,p.R36C|NM_001145841,p.R36C|uc010qxe.1,p.R36C|uc021qbv.1,p.R36C	retained_intron, protein_coding	uc021qbv.1	nonsynonymous SNV	exon4	c.C106T	p.R36C	QIAATELEKEESRREAEKQNYLAEH	QIAATELEKEESCREAEKQNYLAEH	5.0	4.0	-	-	4348_11:1861806-1861806 C>T_QIAATELEKEESCREAEKQNYLAEH
11:34378349-34378349 T>A	0.0	4348	ESOPHAGEAL	-	-	-	-	ABTB2	NM_145804,p.E261V|ENST00000435224,p.E261V|ENST00000298992,p.E75V|uc001mvl.2,p.E261V	protein_coding, processed_transcript	uc001mvl.2	nonsynonymous SNV	exon1	c.A782T	p.E261V	SHSPDGGGAGGGEVSAEALEMVINN	SHSPDGGGAGGGVVSAEALEMVINN	5.0	2.0	-	-	4348_11:34378349-34378349 T>A_SHSPDGGGAGGGVVSAEALEMVINN
20:39992358-39992358 G>C	0.0	4348	ESOPHAGEAL	-	-	-	-	EMILIN3	ENST00000332312,p.P145R|uc002xjy.1,p.P145R|NM_052846,p.P145R	protein_coding	uc002xjy.1	nonsynonymous SNV	exon3	c.C434G	p.P145R	LTDHGAASPQLEPEPQIPSGQLDPG	LTDHGAASPQLEREPQIPSGQLDPG	1.0	2.0	-	-	4348_20:39992358-39992358 G>C_LTDHGAASPQLEREPQIPSGQLDPG
2:227896714-227896714 G>A	0.0	4348	ESOPHAGEAL	-	-	-	-	COL4A4	ENST00000396625,p.P1255L|uc021vxs.1,p.P1255L|ENST00000329662,p.P1255L|uc021vxr.1,p.P1255L|NM_000092,p.P1255L	protein_coding	uc021vxs.1	nonsynonymous SNV	exon40	c.C3764T	p.P1255L	PAGATGRAPKDIPDPGPPGDQGPPG	PAGATGRAPKDILDPGPPGDQGPPG	3.0	4.0	-	-	4348_2:227896714-227896714 G>A_PAGATGRAPKDILDPGPPGDQGPPG
20:24524176-24524176 A>G	0.0	4348	ESOPHAGEAL	-	-	-	-	SYNDIG1	ENST00000376862,p.Y148C|uc002wtw.1,p.Y148C|NM_024893,p.Y148C	protein_coding, processed_transcript	uc002wtw.1	nonsynonymous SNV	exon2	c.A443G	p.Y148C	LSADDIKIHTLSYDVEEEEEFQELE	LSADDIKIHTLSCDVEEEEEFQELE	1.0	2.0	-	-	4348_20:24524176-24524176 A>G_LSADDIKIHTLSCDVEEEEEFQELE
6:31324465-31324465 C>T	1.0	4350	COLON	-	-	ID=COSM4006333;OCCURENCE=1(urinary_tract)	-	HLA-B	uc031snl.1,p.G115R|uc010jso.2,p.G87R|NM_005514,p.G115R|ENST00000434333,p.G126R|ENST00000412585,p.G115R|uc003nth.2,p.G115R	retained_intron, protein_coding, nonsense_mediated_decay	uc031snl.1	nonsynonymous SNV	exon2	c.G343A	p.G115R	RNLRGYYNQSEAGSHTLQSMYGCDV	RNLRGYYNQSEARSHTLQSMYGCDV	10.0	1.0	unscreened	-	4350_6:31324465-31324465 C>T_RNLRGYYNQSEARSHTLQSMYGCDV
2:69565694-69565694 G>C	0.0	4350	COLON	-	-	-	-	GFPT1	NM_002056,p.R385G|uc002sfi.2,p.R403G|ENST00000361060,p.R385G|NM_001244710,p.R403G|ENST00000357308,p.R403G|uc002sfh.3,p.R385G	protein_coding, processed_transcript	uc002sfi.2	nonsynonymous SNV	exon14	c.C1207G	p.R403G	ACGTSYHAGVATRQVLEELTELPVM	ACGTSYHAGVATGQVLEELTELPVM	9.0	5.0	-	-	4350_2:69565694-69565694 G>C_ACGTSYHAGVATGQVLEELTELPVM
6:31324465-31324465 C>T	1.0	4350	COLON	-	-	ID=COSM4006333;OCCURENCE=1(urinary_tract)	-	HLA-B	uc003ntf.2,p.G115R	retained_intron, protein_coding, nonsense_mediated_decay	uc003ntf.2	nonsynonymous SNV	exon2	c.G343A	p.G115R	RNLRGYYNQSEAGSHTLQRMSGCDL	RNLRGYYNQSEARSHTLQRMSGCDL	10.0	1.0	unscreened	-	4350_6:31324465-31324465 C>T_RNLRGYYNQSEARSHTLQRMSGCDL
3:42679035-42679035 ->C	0.0	4350	COLON	-	-	ID=COSM1423115;OCCURENCE=2(NS),2(large_intestine)	-	NKTR	uc003cls.3,p.S313fs|uc003clq.1,p.S503fs|uc003clo.3,p.S613fs|uc003clp.3,p.S360fs|NM_005385,p.S613fs|ENST00000232978,p.S613fs|uc003clr.1,p.S360fs|uc003clm.1,p.S360fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cls.3	frameshift insertion	exon5	c.940dupC	p.S313fs	VAENIPVIPLSDSPPPSRWKPGQKP	VAENIPVIPLSDSPPPFKMEAWTETLEALL	9.0	6.0	-	-	4350_3:42679035-42679035 ->C_VAENIPVIPLSDSPPPFKMEAWTETLEALL
7:102040023-102040023 G>C	0.0	4350	COLON	-	-	-	-	PRKRIP1	ENST00000462601,p.E21D|uc011kkq.1,p.E21D	retained_intron, protein_coding, processed_transcript	uc011kkq.1	nonsynonymous SNV	exon2	c.G63C	p.E21D	HSPGSSAGAGSGEFHVYRHLRRREY	HSPGSSAGAGSGDFHVYRHLRRREY	6.0	1.0	-	-	4350_7:102040023-102040023 G>C_HSPGSSAGAGSGDFHVYRHLRRREY
7:102040023-102040023 G>C	0.0	4350	COLON	-	-	-	-	PRKRIP1	uc011kkr.1,p.E78D|ENST00000397912,p.E78D|ENST00000354783,p.E40D|NM_024653,p.E78D|ENST00000496391,p.E78D|uc003uzh.2,p.E78D	retained_intron, protein_coding, processed_transcript	uc011kkr.1	nonsynonymous SNV	exon3	c.G234C	p.E78D	DVMGSSAGAGSGEFHVYRHLRRREY	DVMGSSAGAGSGDFHVYRHLRRREY	6.0	1.0	-	-	4350_7:102040023-102040023 G>C_DVMGSSAGAGSGDFHVYRHLRRREY
2:74901665-74901665 C>A	0.0	4350	COLON	-	-	-	-	SEMA4F	ENST00000339773,p.T133K|NM_001271662,p.T255K|NM_001271661,p.T133K|NM_004263,p.T288K|uc002sna.2,p.T288K|ENST00000453930,p.T133K|ENST00000357877,p.T288K|uc010ffq.2,p.T255K|uc021vjn.2,p.T288K|uc002snc.2,p.T133K	protein_coding, processed_transcript, nonsense_mediated_decay	uc021vjn.2	nonsynonymous SNV	exon8	c.C863A	p.T288K	DLGGRKTLQQRWTTFLKADLLCPGP	DLGGRKTLQQRWKTFLKADLLCPGP	7.0	1.0	-	-	4350_2:74901665-74901665 C>A_DLGGRKTLQQRWKTFLKADLLCPGP
16:50783695-50783695 G>C	0.0	4350	COLON	-	-	-	1	CYLD	uc010cbs.1,p.S29T|ENST00000540145,p.S29T|ENST00000569681,p.S29T|uc002egr.1,p.S29T|ENST00000398568,p.S29T|NM_015247,p.S29T|ENST00000569418,p.S29T|uc021tib.1,p.S29T|uc002egp.1,p.S29T|ENST00000564326,p.S29T|ENST00000427738,p.S29T|ENST00000568704,p.S29T|ENST00000311559,p.S29T|uc002egq.1,p.S29T|uc002egs.1,p.S29T|ENST00000566679,p.S29T|NM_001042355,p.S29T|NM_001042412,p.S29T|ENST00000566206,p.S29T|uc002ego.3,p.S29T|uc002egn.1,p.S29T	retained_intron, protein_coding	uc021tib.1	nonsynonymous SNV	exon1	c.G86C	p.S29T	EERIFYLLLQECSVTDKQTQKLLKV	EERIFYLLLQECTVTDKQTQKLLKV	6.0	4.0	-	-	4350_16:50783695-50783695 G>C_EERIFYLLLQECTVTDKQTQKLLKV
11:1902786-1902786 C>-	0.0	4350	COLON	-	-	ID=COSM178262,COSM3686021;OCCURENCE=2(large_intestine)	-	LSP1	ENST00000432093,p.P44fs|NM_001013253,p.P44fs|ENST00000457279,p.P97fs|NM_001289005,p.P44fs|NM_001242932,p.P234fs|uc001lui.3,p.P106fs|NM_002339,p.P106fs|uc001lul.3,p.P44fs|ENST00000405957,p.P44fs|ENST00000417766,p.P44fs|ENST00000381775,p.P234fs|uc001luj.3,p.P234fs|NM_001013255,p.P44fs|ENST00000446808,p.P44fs|uc001luk.3,p.P44fs|NM_001013254,p.P44fs|ENST00000406638,p.P44fs|uc001lum.3,p.P44fs|ENST00000429923,p.P89fs|ENST00000311604,p.P106fs	retained_intron, protein_coding, processed_transcript	uc001lum.3	frameshift deletion	exon3	c.130delC	p.P44fs	HEGAQGALDSGEPPQCRSPEGEQEDR	HEGAQGALDSGEPPSAGVLRGSKRTGPACMPTKRRTVMKSTWRS	10.0	10.0	unscreened	-	4350_11:1902786-1902786 C>-_HEGAQGALDSGEPPSAGVLRGSKRTGPACMPTKRRTVMKSTWRS
12:110841435-110841435 T>A	0.0	4350	COLON	-	-	-	-	ANAPC7	uc001tqo.2,p.R34W|NM_001137664,p.R34W|uc001tqp.4,p.R34W|ENST00000450008,p.R34W|NM_016238,p.R34W|ENST00000455511,p.R34W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tqp.4	nonsynonymous SNV	exon1	c.A100T	p.R34W	SVLPPLPAALQSRMNVIDHVRDMAA	SVLPPLPAALQSWMNVIDHVRDMAA	7.0	10.0	-	-	4350_12:110841435-110841435 T>A_SVLPPLPAALQSWMNVIDHVRDMAA
1:154574653-154574653 G>-	0.0	4350	COLON	-	-	-	-	ADAR	uc001ffh.3,p.A155fs|NM_015840,p.A155fs|ENST00000292205,p.A198fs|ENST00000368474,p.A155fs|uc001ffj.3,p.A155fs|NM_015841,p.A155fs|uc001ffi.3,p.A155fs|NM_001111,p.A155fs|ENST00000529168,p.A150fs	retained_intron, protein_coding, processed_transcript	uc001ffj.3	frameshift deletion	exon2	c.465delC	p.A155fs	ILKFLEELGEGKATTAHDLSGKLGTP	ILKFLEELGEGKAPQHMICLGNLGLRRKKSIEFYTPWQRRASYRKRQEHPLCGKSRSPLRLGTSTAEW	8.0	5.0	unscreened	-	4350_1:154574653-154574653 G>-_ILKFLEELGEGKAPQHMICLGNLGLRRKKSIEFYTPWQRRASYRKRQEHPLCGKSRSPLRLGTSTAEW
16:359996-359996 G>A	0.0	4350	COLON	-	-	-	1	AXIN1	NM_181050,p.R365W|NM_003502,p.R365W|uc002cgp.2,p.R365W|ENST00000262320,p.R365W|uc002cgq.2,p.R365W|ENST00000354866,p.R365W	retained_intron, protein_coding, processed_transcript	uc002cgq.2	nonsynonymous SNV	exon4	c.C1093T	p.R365W	RREMQESVQVNGRVPLPHIPRTYRV	RREMQESVQVNGWVPLPHIPRTYRV	7.0	8.0	-	-	4350_16:359996-359996 G>A_RREMQESVQVNGWVPLPHIPRTYRV
14:102551161-102551163 TCT>-	1.0	4350	COLON	-	-	-	1	HSP90AA1	ENST00000334701,p.401_402del|uc001ykv.4,p.401_402del|NM_005348,p.279_280del|uc001yku.4,p.279_280del|ENST00000216281,p.279_280del|NM_001017963,p.401_402del|uc001ykx.1,p.268_269del|uc001ykw.1,p.100_101del|ENST00000441629,p.100_101del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ykx.1	nonframeshift deletion	exon4	c.803_805del	p.268_269del	EEKKDGDKKKKKKIKEKYIDQEELNK	EEKKDGDKKKKKIKEKYIDQEELNK	10.0	7.0	-	-	4350_14:102551161-102551163 TCT>-_EEKKDGDKKKKKIKEKYIDQEELNK
20:44691358-44691358 T>C	0.0	4350	COLON	-	-	-	-	NCOA5	ENST00000290231,p.S441G|NM_020967,p.S441G|uc002xrd.3,p.S441G|uc002xre.3,p.S441G	protein_coding	uc002xre.3	nonsynonymous SNV	exon8	c.A1321G	p.S441G	QELQAKILSLFNSGTVTANSSSASP	QELQAKILSLFNGGTVTANSSSASP	7.0	1.0	-	-	4350_20:44691358-44691358 T>C_QELQAKILSLFNGGTVTANSSSASP
17:7579355-7579355 A>C	0.0	4350	COLON	-	-	ID=COSM44570;OCCURENCE=5(liver),1(large_intestine),1(breast),1(central_nervous_system),1(haematopoietic_and_lymphoid_tissue),1(lung)	1	TP53	ENST00000420246,p.L111R|ENST00000359597,p.L111R|uc002gij.3,p.L72R|NM_000546,p.L111R|NM_001126113,p.L111R|ENST00000503591,p.L111R|ENST00000413465,p.L111R|uc031qyq.1,p.L72R|uc010cnk.2,p.L126R|NM_001126114,p.L111R|ENST00000508793,p.L111R|ENST00000445888,p.L111R|ENST00000455263,p.L111R|ENST00000269305,p.L111R|uc002gih.3,p.L111R|NM_001276696,p.L72R|NM_001276760,p.L72R|uc010vug.3,p.L72R|NM_001126112,p.L111R|NM_001276761,p.L72R|ENST00000604348,p.L111R|NM_001126118,p.L72R|NM_001276695,p.L72R|uc002gig.1,p.L111R	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon3	c.T215G	p.L72R	SQKTYQGSYGFRLGFLHSGTAKSVT	SQKTYQGSYGFRRGFLHSGTAKSVT	8.0	10.0	CD8	-	4350_17:7579355-7579355 A>C_SQKTYQGSYGFRRGFLHSGTAKSVT
X:70341427-70341427 G>A	0.0	4350	COLON	-	-	-	1	MED12	uc011mpq.1,p.V288I|ENST00000374102,p.V288I|ENST00000374080,p.V288I|NM_005120,p.V288I|ENST00000333646,p.V288I|uc004dza.3,p.V135I|uc004dyz.3,p.V288I|uc004dyy.3,p.V288I|ENST00000430072,p.V256I	protein_coding, processed_transcript	uc011mpq.1	nonsynonymous SNV	exon7	c.G862A	p.V288I	LLPLLLRYSGEFVQSAYLSRRLAYF	LLPLLLRYSGEFIQSAYLSRRLAYF	9.0	2.0	unscreened	-	4350_X:70341427-70341427 G>A_LLPLLLRYSGEFIQSAYLSRRLAYF
13:101290266-101290266 G>A	0.0	4350	COLON	-	-	-	-	TMTC4	ENST00000328767,p.A121V|NM_032813,p.A251V|NM_001286453,p.A121V|uc001vou.3,p.A232V|uc010tja.2,p.A121V|NM_001079669,p.A232V|uc001vow.1,p.A15V|uc001vot.3,p.A251V|ENST00000342624,p.A251V|ENST00000376234,p.A232V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tja.2	nonsynonymous SNV	exon5	c.C362T	p.A121V	CKEQGITVLGLNAVFDILVIGKFNV	CKEQGITVLGLNVVFDILVIGKFNV	6.0	10.0	-	-	4350_13:101290266-101290266 G>A_CKEQGITVLGLNVVFDILVIGKFNV
6:39893482-39893482 C>T	0.0	4350	COLON	-	-	ID=COSM1079073,COSM1079074;OCCURENCE=1(endometrium)	-	MOCS1	ENST00000432280,p.D91N|uc003opd.3,p.D120N|NM_005943,p.D120N|ENST00000340692,p.D120N|uc003ope.3,p.D33N|ENST00000425303,p.D120N|ENST00000373195,p.D33N|ENST00000373175,p.D91N|NM_001075098,p.D120N|uc003opa.3,p.D120N|ENST00000373186,p.D120N|ENST00000373181,p.D33N|ENST00000373188,p.D120N|uc003opb.3,p.D120N|ENST00000308559,p.D120N	retained_intron, protein_coding, nonsense_mediated_decay	uc003ope.3	nonsynonymous SNV	exon2	c.G97A	p.D33N	LTLARLFVKEGIDKIRLTGGEPLIR	LTLARLFVKEGINKIRLTGGEPLIR	6.0	7.0	-	-	4350_6:39893482-39893482 C>T_LTLARLFVKEGINKIRLTGGEPLIR
14:64516425-64516425 C>T	0.0	4350	COLON	-	-	-	-	SYNE2	uc001xgl.3,p.H2492Y|uc001xgm.3,p.H2492Y|ENST00000344113,p.H2492Y|ENST00000358025,p.H2492Y|NM_182914,p.H2492Y|NM_015180,p.H2492Y|ENST00000554584,p.H2525Y|uc021ruh.1,p.H2525Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ruh.1	nonsynonymous SNV	exon47	c.C7573T	p.H2525Y	CLNKTETGALVLHNIGYSAQHLDNL	CLNKTETGALVLYNIGYSAQHLDNL	10.0	4.0	-	-	4350_14:64516425-64516425 C>T_CLNKTETGALVLYNIGYSAQHLDNL
19:58490894-58490894 G>C	0.0	4350	COLON	-	-	-	-	ZNF606	uc002qqw.3,p.S385C|ENST00000341164,p.S385C|uc010yhp.2,p.S295C|ENST00000536132,p.S295C|NM_025027,p.S385C|ENST00000551380,p.S385C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yhp.2	nonsynonymous SNV	exon6	c.C884G	p.S295C	KYNEWEKVFGYDSFLTQHTSTYTAE	KYNEWEKVFGYDCFLTQHTSTYTAE	6.0	1.0	-	-	4350_19:58490894-58490894 G>C_KYNEWEKVFGYDCFLTQHTSTYTAE
19:1627381-1627381 C>T	1.0	4350	COLON	-	-	-	1	TCF3	ENST00000395423,p.A64T|ENST00000262965,p.A115T|ENST00000588136,p.A115T|uc002ltt.4,p.A115T|NM_001136139,p.A115T|uc002ltq.3,p.A64T|ENST00000344749,p.A115T|NM_003200,p.A115T|uc002lts.1,p.A31T|ENST00000453954,p.A31T|ENST00000587235,p.A144T|uc002ltr.3,p.A115T	retained_intron, protein_coding, nonsense_mediated_decay	uc002ltt.4	nonsynonymous SNV	exon5	c.G343A	p.A115T	GERGAYASFGRDAGVGGLTQAGFLS	GERGAYASFGRDTGVGGLTQAGFLS	8.0	7.0	-	-	4350_19:1627381-1627381 C>T_GERGAYASFGRDTGVGGLTQAGFLS
5:112175952-112175952 A>-	0.0	4350	COLON	-	-	ID=COSM19000;OCCURENCE=2(large_intestine)	1	APC	ENST00000457016,p.E1554fs|NM_000038,p.E1554fs|uc003kpz.4,p.E1554fs|uc003kpy.4,p.E1554fs|uc010jbz.3,p.E1271fs|uc011cvt.2,p.E1536fs|NM_001127511,p.E1536fs|uc010jca.3,p.E854fs|NM_001127510,p.E1554fs|ENST00000257430,p.E1554fs|ENST00000508376,p.E1554fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	frameshift deletion	exon14	c.4607delA	p.E1536fs	PKESNENQEKEAEKTIDSEKDLLDDS	PKESNENQEKEAEKLLILKRTY	9.0	8.0	-	-	4350_5:112175952-112175952 A>-_PKESNENQEKEAEKLLILKRTY
X:54466906-54466906 G>A	0.0	4350	COLON	-	-	-	-	TSR2	ENST00000375151,p.A18T|NM_058163,p.A18T|uc004dte.3,p.A18T	protein_coding	uc004dte.3	nonsynonymous SNV	exon1	c.G52A	p.A18T	EDARALFRAGVCAALEAWPALQIAV	EDARALFRAGVCTALEAWPALQIAV	5.0	7.0	-	-	4350_X:54466906-54466906 G>A_EDARALFRAGVCTALEAWPALQIAV
7:618900-618900 A>C	0.0	4350	COLON	-	-	-	-	PRKAR1B	ENST00000403562,p.I295S|uc003siv.3,p.I295S|uc003siu.2,p.I295S|uc003siw.2,p.I295S|uc021zyi.1,p.I295S|uc021zyj.1,p.I295S|uc031swi.1,p.I240S|NM_001164760,p.I295S|NM_001164758,p.I295S|ENST00000360274,p.I295S|NM_001164761,p.I295S|ENST00000544935,p.I295S|NM_001164759,p.I295S|uc021zyk.1,p.I295S|NM_002735,p.I295S|ENST00000406797,p.I295S|NM_001164762,p.I295S|ENST00000537384,p.I295S	protein_coding, processed_transcript	uc031swi.1	nonsynonymous SNV	exon8	c.T719G	p.I240S	VVQGEPGDDFYIITEGTASVLQRRS	VVQGEPGDDFYISTEGTASVLQRRS	8.0	9.0	-	-	4350_7:618900-618900 A>C_VVQGEPGDDFYISTEGTASVLQRRS
16:28164035-28164035 G>C	0.0	4350	COLON	-	-	-	-	XPO6	ENST00000304658,p.S390C|NM_001270940,p.S376C|uc002dpb.2,p.S376C|uc002dpa.2,p.S390C|NM_015171,p.S390C|ENST00000565698,p.S376C|uc010vcp.2,p.S390C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vcp.2	nonsynonymous SNV	exon8	c.C1169G	p.S390C	FVSVHLRRIESYSQFPVVEFLTLLF	FVSVHLRRIESYCQFPVVEFLTLLF	9.0	1.0	-	-	4350_16:28164035-28164035 G>C_FVSVHLRRIESYCQFPVVEFLTLLF
3:124951478-124951478 A>G	0.0	4350	COLON	-	-	-	-	ZNF148	uc010hsa.3,p.S698P|ENST00000360647,p.S698P|NM_021964,p.S698P|ENST00000485866,p.S698P|uc003ehx.4,p.S698P|ENST00000484491,p.S698P|uc003eia.4,p.S698P|ENST00000492394,p.S698P|uc003ehz.4,p.S698P	protein_coding, processed_transcript	uc010hsa.3	nonsynonymous SNV	exon8	c.T2092C	p.S698P	SFPFSGDETNHASATSTQDFLDQVT	SFPFSGDETNHAPATSTQDFLDQVT	7.0	4.0	unscreened	-	4350_3:124951478-124951478 A>G_SFPFSGDETNHAPATSTQDFLDQVT
3:124951478-124951478 A>G	0.0	4350	COLON	-	-	-	-	ZNF148	uc003ehy.3,p.S35P|ENST00000544464,p.S35P|ENST00000468369,p.S48P	protein_coding, processed_transcript	uc003ehy.3	nonsynonymous SNV	exon6	c.T103C	p.S35P	RCDECGDETNHASATSTQDFLDQVT	RCDECGDETNHAPATSTQDFLDQVT	7.0	4.0	unscreened	-	4350_3:124951478-124951478 A>G_RCDECGDETNHAPATSTQDFLDQVT
5:140802616-140802616 C>T	0.0	4350	COLON	-	-	-	-	PCDHGA11	NM_018914,p.R608C|uc003lko.1,p.R608C|ENST00000518882,p.R608C|uc003lkp.2,p.R608C|uc003lkq.2,p.R608C|ENST00000398587,p.R608C|NM_032091,p.R608C|NM_032092,p.R608C	protein_coding	uc003lkq.2	nonsynonymous SNV	exon1	c.C1822T	p.R608C	DKDSGQNAWLSYRLLKASEPGLFAV	DKDSGQNAWLSYCLLKASEPGLFAV	6.0	5.0	-	-	4350_5:140802616-140802616 C>T_DKDSGQNAWLSYCLLKASEPGLFAV
13:99907378-99907378 A>T	0.0	4350	COLON	-	-	-	-	GPR18	ENST00000397470,p.I250N|ENST00000397473,p.I250N|uc001voe.4,p.I250N|uc010afv.3,p.I250N|NM_001098200,p.I250N|NM_005292,p.I250N|ENST00000340807,p.I250N|uc021rlz.1,p.I250N	protein_coding	uc021rlz.1	nonsynonymous SNV	exon1	c.T749A	p.I250N	LVQVLVCFMPFHICFAFLMLGTGEN	LVQVLVCFMPFHNCFAFLMLGTGEN	1.0	5.0	-	-	4350_13:99907378-99907378 A>T_LVQVLVCFMPFHNCFAFLMLGTGEN
12:80190576-80190576 T>A	0.0	4350	COLON	-	-	-	-	PPP1R12A	NM_001143886,p.K729I|ENST00000550107,p.K760I|NM_002480,p.K816I|ENST00000437004,p.K816I|uc001sza.3,p.K760I|NM_001143885,p.K816I|uc001syz.3,p.K816I|ENST00000550903,p.K72I|uc010suc.2,p.K729I|uc001szb.3,p.K816I|NM_001244992,p.K760I|NM_001244990,p.K816I|ENST00000450142,p.K816I|ENST00000546369,p.K729I|ENST00000261207,p.K816I|uc010sud.2,p.K816I	retained_intron, protein_coding, nonsense_mediated_decay	uc010sud.2	nonsynonymous SNV	exon18	c.A2447T	p.K816I	VGITSAYSRGITKENEREGEKREEE	VGITSAYSRGITIENEREGEKREEE	8.0	1.0	-	-	4350_12:80190576-80190576 T>A_VGITSAYSRGITIENEREGEKREEE
12:6128716-6128716 C>T	0.0	4350	COLON	-	-	-	-	VWF	ENST00000261405,p.E1290K|NM_000552,p.E1290K|uc001qnn.1,p.E1290K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001qnn.1	nonsynonymous SNV	exon28	c.G3868A	p.E1290K	LVFLLDGSSRLSEAEFEVLKAFVVD	LVFLLDGSSRLSKAEFEVLKAFVVD	5.0	9.0	-	-	4350_12:6128716-6128716 C>T_LVFLLDGSSRLSKAEFEVLKAFVVD
22:51183225-51183225 G>A	0.0	4350	COLON	-	-	-	-	ACR	uc003bnh.4,p.A286T|ENST00000216139,p.A286T|NM_001097,p.A286T	retained_intron, protein_coding, processed_transcript	uc003bnh.4	nonsynonymous SNV	exon5	c.G856A	p.A286T	IYTATWPYLNWIASKIGSNALRMIQ	IYTATWPYLNWITSKIGSNALRMIQ	1.0	6.0	unscreened	-	4350_22:51183225-51183225 G>A_IYTATWPYLNWITSKIGSNALRMIQ
16:30536119-30536119 C>T	0.0	4350	COLON	-	-	-	-	ZNF768	ENST00000380412,p.A448T|uc010vex.2,p.A417T|NM_024671,p.A448T|uc010vew.2,p.A417T|ENST00000562803,p.A417T|uc002dyk.4,p.A448T	protein_coding	uc010vex.2	nonsynonymous SNV	exon4	c.G1249A	p.A417T	KRFGQSSVLAIHARTHLPGRTYSCP	KRFGQSSVLAIHTRTHLPGRTYSCP	5.0	8.0	-	-	4350_16:30536119-30536119 C>T_KRFGQSSVLAIHTRTHLPGRTYSCP
X:140996456-140996456 C>T	0.0	4350	COLON	-	-	-	-	MAGEC1	uc022cfi.1,p.A748V|NM_005462,p.A1089V|uc010nsl.2,p.A156V|uc004fbt.3,p.A1089V|ENST00000285879,p.A1089V|ENST00000406005,p.A156V	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.C2243T	p.A748V	SEVIKRKVVEFLAMLKNTVPITFPS	SEVIKRKVVEFLVMLKNTVPITFPS	1.0	6.0	-	-	4350_X:140996456-140996456 C>T_SEVIKRKVVEFLVMLKNTVPITFPS
15:84287019-84287019 A>T	0.0	4350	COLON	-	-	-	-	SH3GL3	uc002bjw.3,p.I342F|ENST00000434347,p.I350F|ENST00000324537,p.I350F|NM_001301109,p.I350F|NM_003027,p.I342F|NM_001301108,p.I273F|uc002bjx.3,p.I273F|ENST00000427482,p.I342F|uc002bju.3,p.I350F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bjx.3	nonsynonymous SNV	exon9	c.A817T	p.I273F	ESGFFPINYVEVIVPLPQ	ESGFFPINYVEVFVPLPQ	1.0	5.0	-	-	4350_15:84287019-84287019 A>T_ESGFFPINYVEVFVPLPQ
19:54561760-54561760 T>A	0.0	4350	COLON	-	-	-	-	VSTM1	NM_001288792,p.H52L|ENST00000376626,p.H52L|ENST00000447872,p.H52L|ENST00000425006,p.H52L|uc002qcw.4,p.H52L|uc002qcx.4,p.H52L|NM_198481,p.H52L|ENST00000338372,p.H52L	protein_coding, nonsense_mediated_decay	uc002qcx.4	nonsynonymous SNV	exon3	c.A155T	p.H52L	EAESNVTLKCQAHSQNVTFVLRKVN	EAESNVTLKCQALSQNVTFVLRKVN	1.0	6.0	-	-	4350_19:54561760-54561760 T>A_EAESNVTLKCQALSQNVTFVLRKVN
X:9716690-9716690 G>A	0.0	4350	COLON	-	-	-	-	GPR143	ENST00000467482,p.H158Y|ENST00000380929,p.H178Y|uc004cst.2,p.H158Y|NM_000273,p.H158Y|ENST00000431126,p.H74Y	protein_coding, processed_transcript	uc004cst.2	nonsynonymous SNV	exon4	c.C472T	p.H158Y	RRSAGLSTILLYHIMAWGLATLLCV	RRSAGLSTILLYYIMAWGLATLLCV	2.0	2.0	-	-	4350_X:9716690-9716690 G>A_RRSAGLSTILLYYIMAWGLATLLCV
3:37988619-37988619 C>T	0.0	4350	COLON	-	-	-	-	CTDSPL	uc003chg.3,p.R51C|ENST00000273179,p.R51C|uc003chh.3,p.R51C|NM_005808,p.R51C|ENST00000443503,p.R51C|NM_001008392,p.R51C	protein_coding, processed_transcript, nonsense_mediated_decay	uc003chh.3	nonsynonymous SNV	exon2	c.C151T	p.R51C	SRSILSSFFCCFRDYNVEAPPPSSP	SRSILSSFFCCFCDYNVEAPPPSSP	7.0	9.0	-	-	4350_3:37988619-37988619 C>T_SRSILSSFFCCFCDYNVEAPPPSSP
6:114181209-114181209 ->A	0.0	4350	COLON	-	-	-	-	MARCKS	ENST00000368635,p.P151fs|uc003pvy.4,p.P151fs|NM_002356,p.P151fs	protein_coding	uc003pvy.4	frameshift insertion	exon2	c.454dupA	p.P151fs	EDGATPSPSNETPKKKKKRFSFKKS	EDGATPSPSNETPKKKKEALFLQEVFQAERLLLQEEQEGGWRRR	5.0	5.0	-	-	4350_6:114181209-114181209 ->A_EDGATPSPSNETPKKKKEALFLQEVFQAERLLLQEEQEGGWRRR
X:77224424-77224424 T>A	0.0	4350	COLON	-	-	-	-	PGAM4	uc004ecy.1,p.T238S|ENST00000458128,p.T238S|NM_001029891,p.T238S	protein_coding	uc004ecy.1	nonsynonymous SNV	exon1	c.A712T	p.T238S	PIKPMQFLGDEETVCKAIEAVAAQG	PIKPMQFLGDEESVCKAIEAVAAQG	6.0	2.0	-	-	4350_X:77224424-77224424 T>A_PIKPMQFLGDEESVCKAIEAVAAQG
13:101726905-101726905 C>A	0.0	4350	COLON	-	-	-	-	NALCN	uc001vox.1,p.V1355F|ENST00000251127,p.V1355F|NM_052867,p.V1355F	retained_intron, protein_coding, processed_transcript	uc001vox.1	nonsynonymous SNV	exon36	c.G4063T	p.V1355F	FLLLLCYAFAGVVLFGTVKYGENIN	FLLLLCYAFAGVFLFGTVKYGENIN	1.0	2.0	-	-	4350_13:101726905-101726905 C>A_FLLLLCYAFAGVFLFGTVKYGENIN
12:25398284-25398284 C>T	0.0	4350	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	uc001rgq.1,p.G12D|NM_004985,p.G12D|ENST00000556131,p.G12D|ENST00000256078,p.G12D|ENST00000311936,p.G12D|NM_033360,p.G12D|ENST00000557334,p.G12D|uc001rgp.1,p.G12D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35A	p.G12D	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGADGVGKSALTIQLI	5.0	10.0	-	-	4350_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI
4:121698397-121698397 C>A	0.0	4350	COLON	-	-	-	-	PRDM5	ENST00000515109,p.G464C|NM_018699,p.G495C|ENST00000428209,p.G464C|uc003idn.3,p.G495C|uc003ido.3,p.G464C|ENST00000264808,p.G495C|uc010ine.3,p.G464C|NM_001300823,p.G464C|NM_001300824,p.G464C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ine.3	nonsynonymous SNV	exon12	c.G1390T	p.G464C	HTGEKEKICPYCGQKFASSGTLRVH	HTGEKEKICPYCCQKFASSGTLRVH	5.0	5.0	-	-	4350_4:121698397-121698397 C>A_HTGEKEKICPYCCQKFASSGTLRVH
2:1481293-1481293 G>T	0.0	4350	COLON	-	-	-	-	TPO	ENST00000346956,p.A419S|ENST00000422464,p.A348S|NM_175719,p.A419S|uc010yip.2,p.A419S|ENST00000337415,p.A419S|ENST00000382201,p.A419S|NM_175721,p.A419S|uc002qwx.3,p.A419S|uc002qwu.3,p.A419S|NM_000547,p.A419S|ENST00000345913,p.A419S|ENST00000329066,p.A419S|uc002qwr.3,p.A419S|NM_001206745,p.A419S|uc002qww.3,p.A419S|NM_001206744,p.A419S	protein_coding, processed_transcript	uc010yip.2	nonsynonymous SNV	exon7	c.G1255T	p.A419S	HTLWLREHNRLAAALKALNAHWSAD	HTLWLREHNRLASALKALNAHWSAD	1.0	8.0	-	-	4350_2:1481293-1481293 G>T_HTLWLREHNRLASALKALNAHWSAD
1:33562317-33562317 G>A	0.0	4350	COLON	-	-	-	-	AZIN2	ENST00000373440,p.V97M|ENST00000358680,p.V97M|uc009vuf.1,p.V97M	protein_coding, processed_transcript	uc009vuf.1	nonsynonymous SNV	exon3	c.G289A	p.V97M	GLGFSCANKIASVINSALDLYFPEG	GLGFSCANKIASMINSALDLYFPEG	1.0	7.0	-	-	4350_1:33562317-33562317 G>A_GLGFSCANKIASMINSALDLYFPEG
9:91617086-91617086 G>A	0.0	4350	COLON	-	-	-	-	S1PR3	NM_005226,p.R324H|ENST00000375846,p.R324H|ENST00000358157,p.R324H|uc004aqe.4,p.R324H|uc022bjm.1,p.R324H	protein_coding	uc022bjm.1	nonsynonymous SNV	exon1	c.G971A	p.R324H	LVCNCLVRGRGARASPIQPALDPSR	LVCNCLVRGRGAHASPIQPALDPSR	1.0	9.0	-	-	4350_9:91617086-91617086 G>A_LVCNCLVRGRGAHASPIQPALDPSR
1:197069697-197069697 G>A	0.0	4350	COLON	-	-	-	-	ASPM	uc001gtw.4,p.A743V|NM_018136,p.A2895V|ENST00000367409,p.A2895V|uc001gtu.3,p.A2895V	protein_coding	uc001gtw.4	nonsynonymous SNV	exon4	c.C2228T	p.A743V	RKAAVVLQNHYRAFLSAKHQRQVYL	RKAAVVLQNHYRVFLSAKHQRQVYL	5.0	5.0	-	-	4350_1:197069697-197069697 G>A_RKAAVVLQNHYRVFLSAKHQRQVYL
1:66829149-66829149 G>A	0.0	4350	COLON	-	-	-	-	PDE4B	uc001dcq.3,p.M221I|uc001dcn.3,p.M393I|ENST00000423207,p.M378I|uc001dco.3,p.M393I|NM_001297440,p.M301I|uc009was.3,p.M160I|uc001dcp.3,p.M378I|NM_002600,p.M393I|NM_001037341,p.M393I|NM_001297442,p.M160I|ENST00000480109,p.M160I|ENST00000371049,p.M393I|ENST00000329654,p.M393I|NM_001297441,p.M318I|NM_001037340,p.M378I|uc009war.3,p.M301I|ENST00000371045,p.M221I|ENST00000341517,p.M393I|NM_001037339,p.M221I	retained_intron, protein_coding, processed_transcript	uc009was.3	nonsynonymous SNV	exon5	c.G480A	p.M160I	FRISSDTFITYMMTLEDHYHSDVAY	FRISSDTFITYMITLEDHYHSDVAY	3.0	10.0	-	-	4350_1:66829149-66829149 G>A_FRISSDTFITYMITLEDHYHSDVAY
19:5218461-5218461 C>T	0.0	4350	COLON	-	-	-	-	PTPRS	uc002mby.3,p.E909K|ENST00000262963,p.E1336K|ENST00000348075,p.E1318K|ENST00000588012,p.E1318K|uc002mbw.3,p.E1318K|uc002mbx.3,p.E913K|ENST00000353284,p.E909K|ENST00000592099,p.E909K|NM_130855,p.E913K|NM_130854,p.E1318K|NM_130853,p.E909K	retained_intron, protein_coding, processed_transcript	uc002mby.3	nonsynonymous SNV	exon17	c.G2725A	p.E909K	ADLAPHHPKDPVEMRRINFQTPGML	ADLAPHHPKDPVKMRRINFQTPGML	4.0	10.0	-	-	4350_19:5218461-5218461 C>T_ADLAPHHPKDPVKMRRINFQTPGML
1:33562317-33562317 G>A	0.0	4350	COLON	-	-	-	-	AZIN2	uc001bwx.1,p.V232M|uc001bws.3,p.V255M|uc001bwz.1,p.V255M|uc009vue.3,p.V255M|NM_052998,p.V255M|NM_001301824,p.V160M|ENST00000294517,p.V255M|NM_001293562,p.V255M|NM_001301825,p.V255M|uc001bwv.3,p.V160M|uc009vug.3,p.V255M|uc001bwt.1,p.V160M|uc001bwr.3,p.V255M|ENST00000373441,p.V255M|ENST00000373443,p.V255M|NM_001301826,p.V255M|NM_001301823,p.V160M|uc001bwu.3,p.V160M|ENST00000398167,p.V255M|uc001bwy.1,p.V104M	protein_coding, processed_transcript	uc009vug.3	nonsynonymous SNV	exon6	c.G763A	p.V255M	EGAKVRFEEIASVINSALDLYFPEG	EGAKVRFEEIASMINSALDLYFPEG	1.0	7.0	-	-	4350_1:33562317-33562317 G>A_EGAKVRFEEIASMINSALDLYFPEG
2:68873182-68873182 G>A	0.0	4350	COLON	-	-	ID=COSM722033;OCCURENCE=1(lung)	-	PROKR1	ENST00000303786,p.G77S|uc010yqj.2,p.G77S|NM_138964,p.G77S|ENST00000394342,p.G77S	protein_coding	uc010yqj.2	nonsynonymous SNV	exon1	c.G229A	p.G77S	IGMALVGIMLVCGIGNFIFIAALVR	IGMALVGIMLVCSIGNFIFIAALVR	1.0	9.0	-	-	4350_2:68873182-68873182 G>A_IGMALVGIMLVCSIGNFIFIAALVR
19:5218461-5218461 C>T	0.0	4350	COLON	-	-	-	-	PTPRS	uc010xin.2,p.E909K	retained_intron, protein_coding, processed_transcript	uc010xin.2	nonsynonymous SNV	exon16	c.G2725A	p.E909K	ADLAPHHPKDPVEMRRINFQTPDMA	ADLAPHHPKDPVKMRRINFQTPDMA	4.0	10.0	-	-	4350_19:5218461-5218461 C>T_ADLAPHHPKDPVKMRRINFQTPDMA
19:5218461-5218461 C>T	0.0	4350	COLON	-	-	-	-	PTPRS	ENST00000372412,p.E1341K|uc002mbv.3,p.E1340K|ENST00000587303,p.E1340K|uc002mbu.1,p.E909K|ENST00000357368,p.E1340K|NM_002850,p.E1340K	retained_intron, protein_coding, processed_transcript	uc002mbv.3	nonsynonymous SNV	exon25	c.G4018A	p.E1340K	ADLAPHHPKDPVEMRRINFQTPDSG	ADLAPHHPKDPVKMRRINFQTPDSG	4.0	10.0	-	-	4350_19:5218461-5218461 C>T_ADLAPHHPKDPVKMRRINFQTPDSG
20:44581000-44581000 G>A	0.0	4350	COLON	-	-	-	-	ZNF335	ENST00000426788,p.S837L|uc002xqv.3,p.S104L|uc010zxk.2,p.S837L|ENST00000322927,p.S992L|uc002xqw.3,p.S992L|NM_022095,p.S992L	protein_coding, processed_transcript	uc010zxk.2	nonsynonymous SNV	exon17	c.C2510T	p.S837L	THCVGDSQSSASSPPATSKALGLAV	THCVGDSQSSASLPPATSKALGLAV	4.0	1.0	-	-	4350_20:44581000-44581000 G>A_THCVGDSQSSASLPPATSKALGLAV
8:42841882-42841882 G>T	0.0	4350	COLON	-	-	-	1	HOOK3	uc010lxq.1,p.L492F|uc003xpr.3,p.L492F|ENST00000307602,p.L492F|NM_032410,p.L492F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lxq.1	nonsynonymous SNV	exon15	c.G1476T	p.L492F	NQEGSDNEKIALLQSLLDDANLRKN	NQEGSDNEKIALFQSLLDDANLRKN	5.0	8.0	CD8	-	4350_8:42841882-42841882 G>T_NQEGSDNEKIALFQSLLDDANLRKN
16:10273974-10273974 C>T	0.0	4350	COLON	-	-	-	1	GRIN2A	uc010uym.2,p.V99M|uc002czr.4,p.V99M|ENST00000396573,p.V99M|uc010buk.3,p.V99M|ENST00000396575,p.V99M|NM_001134407,p.V99M|uc002czo.4,p.V99M|NM_001134408,p.V99M|NM_000833,p.V99M|ENST00000562109,p.V99M|ENST00000404927,p.V99M|ENST00000330684,p.V99M	retained_intron, protein_coding, processed_transcript	uc010uym.2	nonsynonymous SNV	exon3	c.G295A	p.V99M	CDLMSGARIHGLVFGDDTDQEAVAQ	CDLMSGARIHGLMFGDDTDQEAVAQ	1.0	9.0	-	-	4350_16:10273974-10273974 C>T_CDLMSGARIHGLMFGDDTDQEAVAQ
1:154067525-154067525 ->A	0.0	4350	COLON	-	-	-	-	NUP210L	ENST00000368559,p.L691fs|NM_001159484,p.L691fs|NM_207308,p.L691fs|uc010peh.2,p.L691fs|uc001fdw.3,p.L691fs|ENST00000271854,p.L691fs	protein_coding	uc010peh.2	frameshift insertion	exon15	c.2072dupT	p.L691fs	PRPWILEPSRFFLELNAEKTEKIGI	PRPWILEPSRFFFGIECGEDREDWNSTSVAAI	1.0	9.0	-	-	4350_1:154067525-154067525 ->A_PRPWILEPSRFFFGIECGEDREDWNSTSVAAI
13:53421191-53421191 C>T	0.0	4350	COLON	-	-	-	-	PCDH8	uc001vhi.3,p.A461T|NM_032949,p.A461T|ENST00000338862,p.A461T|uc001vhj.3,p.A461T|NM_002590,p.A461T|ENST00000377942,p.A461T	protein_coding	uc001vhj.3	nonsynonymous SNV	exon1	c.G1381A	p.A461T	VVTAASLDRERIAEYNLTLVAEDRG	VVTAASLDRERITEYNLTLVAEDRG	1.0	4.0	-	-	4350_13:53421191-53421191 C>T_VVTAASLDRERITEYNLTLVAEDRG
6:99771430-99771430 G>A	0.0	4350	COLON	-	-	-	-	FAXC	ENST00000389677,p.T238M|NM_032511,p.T238M|uc003ppj.4,p.T238M	protein_coding, processed_transcript	uc003ppj.4	nonsynonymous SNV	exon4	c.C713T	p.T238M	FSNLLRWVVCHITKGIVKREMHGHG	FSNLLRWVVCHIMKGIVKREMHGHG	1.0	10.0	-	-	4350_6:99771430-99771430 G>A_FSNLLRWVVCHIMKGIVKREMHGHG
9:107332280-107332280 G>A	0.0	4350	COLON	-	-	-	-	OR13C8	NM_001004483,p.A278T|uc011lvo.2,p.A278T|ENST00000335040,p.A278T	protein_coding	uc011lvo.2	nonsynonymous SNV	exon1	c.G832A	p.A278T	ASVDSGNEDIIEALISLFYGVMTPM	ASVDSGNEDIIETLISLFYGVMTPM	1.0	4.0	-	-	4350_9:107332280-107332280 G>A_ASVDSGNEDIIETLISLFYGVMTPM
12:132688098-132688098 C>T	0.0	4350	COLON	-	-	-	-	GALNT9	ENST00000542942,p.M39I|NM_021808,p.M39I|ENST00000535228,p.M156I|ENST00000328957,p.M405I|NM_001122636,p.M405I|uc001ukc.4,p.M405I|uc001ukb.3,p.M262I|ENST00000538356,p.M39I|ENST00000397325,p.M39I|ENST00000541995,p.M39I|uc009zyr.3,p.M179I|uc001uka.3,p.M39I	retained_intron, protein_coding, processed_transcript	uc009zyr.3	nonsynonymous SNV	exon4	c.G537A	p.M179I	AKRNALRAAEVWMDDFKSHVYMAWN	AKRNALRAAEVWIDDFKSHVYMAWN	5.0	3.0	-	-	4350_12:132688098-132688098 C>T_AKRNALRAAEVWIDDFKSHVYMAWN
7:56156573-56156573 T>A	0.0	4350	COLON	-	-	-	-	PHKG1	ENST00000446428,p.E21V|ENST00000432123,p.E21V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000446428	nonsynonymous SNV	exon2	c.A62T	p.E21V	DSHSAQDFYENYEPKEILGRMKRGE	DSHSAQDFYENYVPKEILGRMKRGE	2.0	4.0	unscreened	-	4350_7:56156573-56156573 T>A_DSHSAQDFYENYVPKEILGRMKRGE
12:40671727-40671727 C>A	0.0	4350	COLON	-	-	-	-	LRRK2	uc001rmh.1,p.A282E|NM_198578,p.A660E|ENST00000343742,p.A660E|ENST00000298910,p.A660E|uc001rmg.4,p.A660E|ENST00000416796,p.A408E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rmh.1	nonsynonymous SNV	exon8	c.C845A	p.A282E	GFQTILAILKLSASFSKLLVHHSFD	GFQTILAILKLSESFSKLLVHHSFD	4.0	3.0	-	-	4350_12:40671727-40671727 C>A_GFQTILAILKLSESFSKLLVHHSFD
3:178745492-178745492 G>C	0.0	4350	COLON	-	-	-	-	ZMAT3	uc003fjg.3,p.Q167E|uc003fji.3,p.Q167E|ENST00000311417,p.Q167E|ENST00000432729,p.Q167E|NM_022470,p.Q167E|NM_152240,p.Q167E	protein_coding	uc003fji.3	nonsynonymous SNV	exon5	c.C499G	p.Q167E	SFSSPAVAQAHYQGKNHAKRLRLAE	SFSSPAVAQAHYEGKNHAKRLRLAE	5.0	2.0	-	-	4350_3:178745492-178745492 G>C_SFSSPAVAQAHYEGKNHAKRLRLAE
2:137872803-137872803 A>G	0.0	4350	COLON	-	-	-	-	THSD7B	ENST00000409968,p.T437A|ENST00000413152,p.T406A|ENST00000272643,p.T437A|uc002tvb.3,p.T296A|uc002tva.1,p.T406A	retained_intron, protein_coding, processed_transcript	uc002tvb.3	nonsynonymous SNV	exon3	c.A886G	p.T296A	HVTGPVCGGGIQTREVYCAQSVPAA	HVTGPVCGGGIQAREVYCAQSVPAA	1.0	10.0	-	-	4350_2:137872803-137872803 A>G_HVTGPVCGGGIQAREVYCAQSVPAA
11:124757104-124757104 G>A	0.0	4350	COLON	-	-	-	-	ROBO4	NM_019055,p.P735L|uc001qbh.2,p.P625L|uc010sas.2,p.P590L|NM_001301088,p.P590L|ENST00000306534,p.P735L|uc001qbg.3,p.P735L|uc001qbi.3,p.P293L|ENST00000533054,p.P590L	retained_intron, protein_coding, processed_transcript	uc010sas.2	nonsynonymous SNV	exon15	c.C1769T	p.P590L	ETPPTQSQQTQPPVAPQAPSSILLP	ETPPTQSQQTQPLVAPQAPSSILLP	3.0	4.0	-	-	4350_11:124757104-124757104 G>A_ETPPTQSQQTQPLVAPQAPSSILLP
17:32953980-32953980 G>A	0.0	4350	COLON	-	-	-	-	TMEM132E	uc002hif.3,p.R211Q|NM_207313,p.R211Q|ENST00000321639,p.R211Q	retained_intron, protein_coding	uc002hif.3	nonsynonymous SNV	exon3	c.G632A	p.R211Q	RLDSNLMIRLPDRPLKPGEVLSILL	RLDSNLMIRLPDQPLKPGEVLSILL	1.0	9.0	-	-	4350_17:32953980-32953980 G>A_RLDSNLMIRLPDQPLKPGEVLSILL
19:35550607-35550607 T>C	0.0	4350	COLON	-	-	-	-	HPN	ENST00000597419,p.M16T	retained_intron, protein_coding, processed_transcript	ENST00000597419	nonsynonymous SNV	exon3	c.T47C	p.M16T	KEVQVSSADARLMVFDKTEGTWRLL	KEVQVSSADARLTVFDKTEGTWRLL	4.0	6.0	unscreened	-	4350_19:35550607-35550607 T>C_KEVQVSSADARLTVFDKTEGTWRLL
19:35550607-35550607 T>C	0.0	4350	COLON	-	-	-	-	HPN	ENST00000262626,p.M64T|uc002nxr.2,p.M64T|ENST00000600390,p.M64T|NM_182983,p.M64T|uc002nxq.2,p.M64T|ENST00000392226,p.M64T|NM_002151,p.M64T	retained_intron, protein_coding, processed_transcript	uc002nxr.2	nonsynonymous SNV	exon5	c.T191C	p.M64T	YPVQVSSADARLMVFDKTEGTWRLL	YPVQVSSADARLTVFDKTEGTWRLL	4.0	6.0	-	-	4350_19:35550607-35550607 T>C_YPVQVSSADARLTVFDKTEGTWRLL
19:35550607-35550607 T>C	0.0	4350	COLON	-	-	-	-	HPN	uc010xsh.1,p.M33T	retained_intron, protein_coding, processed_transcript	uc010xsh.1	nonsynonymous SNV	exon4	c.T98C	p.M33T	IHLQVSSADARLMVFDKTEGTWRLL	IHLQVSSADARLTVFDKTEGTWRLL	4.0	6.0	-	-	4350_19:35550607-35550607 T>C_IHLQVSSADARLTVFDKTEGTWRLL
6:150342242-150342242 C>T	0.0	4350	COLON	-	-	ID=COSM1243551;OCCURENCE=1(oesophagus)	-	RAET1L	uc011eei.2,p.D144N|NM_130900,p.D144N|ENST00000286380,p.D144N|ENST00000367341,p.D144N	protein_coding	uc011eei.2	nonsynonymous SNV	exon3	c.G430A	p.D144N	EGHSSGSWQFSIDGQTFLLFDSEKR	EGHSSGSWQFSINGQTFLLFDSEKR	3.0	4.0	unscreened	-	4350_6:150342242-150342242 C>T_EGHSSGSWQFSINGQTFLLFDSEKR
3:178952085-178952085 A>G	0.0	4350	COLON	-	-	ID=COSM94986,COSM775;OCCURENCE=249(large_intestine),2(prostate),2(kidney),9(liver),5(pancreas),30(urinary_tract),1(small_intestine),6(skin),1005(breast),125(endometrium),3(salivary_gland),83(ovary),7(soft_tissue),2(pituitary),8(gastrointestinal_tract_(site_indeterminate)),3(haematopoietic_and_lymphoid_tissue),3(cervix),2(meninges),15(lung),8(thyroid),4(oesophagus),8(NS),30(upper_aerodigestive_tract),19(central_nervous_system),22(stomach)	1	PIK3CA	uc003fjk.3,p.H1047R|ENST00000263967,p.H1047R|NM_006218,p.H1047R	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon21	c.A3140G	p.H1047R	ALEYFMKQMNDAHHGGWTTKMDWIF	ALEYFMKQMNDARHGGWTTKMDWIF	4.0	10.0	-	-	4350_3:178952085-178952085 A>G_ALEYFMKQMNDARHGGWTTKMDWIF
17:27044409-27044433 CGGGGACCCTACGGGAGTCCGCGGT>-	0.0	4350	COLON	-	-	-	-	NARR	uc031qzq.1,p.R98fs|NM_001256281,p.R98fs	retained_intron, protein_coding, nonsense_mediated_decay	uc031qzq.1	frameshift deletion	exon1	c.294_318del	p.R98fs	SSPWPAVVVASPRPRTPVGSPWPRVV	SSPWPAVVVASPSGPEL	3.0	7.0	-	-	4350_17:27044409-27044433 CGGGGACCCTACGGGAGTCCGCGGT>-_SSPWPAVVVASPSGPEL
7:56156573-56156573 T>A	0.0	4350	COLON	-	-	-	-	PHKG1	ENST00000297373,p.E21V|uc003trz.2,p.E21V|NM_001258459,p.E21V|NM_001258460,p.E21V|uc011kdc.2,p.E21V|ENST00000452681,p.E21V|ENST00000395428,p.E21V|uc011kdb.2,p.E21V|NM_006213,p.E21V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kdc.2	nonsynonymous SNV	exon2	c.A62T	p.E21V	DSHSAQDFYENYEPKEILGRGVSSV	DSHSAQDFYENYVPKEILGRGVSSV	2.0	4.0	-	-	4350_7:56156573-56156573 T>A_DSHSAQDFYENYVPKEILGRGVSSV
6:76072524-76072524 C>T	0.0	4350	COLON	-	-	-	-	FILIP1	uc010kbe.3,p.R132Q|uc003phy.1,p.R129Q|uc003phz.3,p.R30Q|ENST00000393004,p.R129Q|ENST00000237172,p.R129Q|uc003pia.3,p.R129Q|NM_015687,p.R129Q|NM_001289987,p.R132Q|NM_001300866,p.R129Q|ENST00000370020,p.R30Q	protein_coding, processed_transcript	uc010kbe.3	nonsynonymous SNV	exon4	c.G395A	p.R132Q	SAEPEKVLRVLHRDAILAQEKSIGE	SAEPEKVLRVLHQDAILAQEKSIGE	1.0	8.0	-	-	4350_6:76072524-76072524 C>T_SAEPEKVLRVLHQDAILAQEKSIGE
9:17394551-17394551 G>A	0.0	4350	COLON	-	-	-	-	CNTLN	uc003zmz.2,p.R700Q|ENST00000380647,p.R700Q|NM_017738,p.R700Q|uc010mio.3,p.R379Q|ENST00000425824,p.R700Q|ENST00000262360,p.R700Q|uc003zmy.3,p.R700Q	protein_coding, processed_transcript	uc010mio.3	nonsynonymous SNV	exon11	c.G1136A	p.R379Q	EQTLQKVTELENRLKSFEKRSRKLK	EQTLQKVTELENQLKSFEKRSRKLK	4.0	8.0	unscreened	-	4350_9:17394551-17394551 G>A_EQTLQKVTELENQLKSFEKRSRKLK
16:1840624-1840624 C>T	0.0	4350	COLON	-	-	-	-	IGFALS	uc002cmy.3,p.E599K|ENST00000415638,p.E637K|uc010uvo.2,p.E233K|NM_001146006,p.E637K|ENST00000215539,p.E599K|uc010uvn.2,p.E637K|NM_004970,p.E599K	protein_coding	uc010uvo.2	nonsynonymous SNV	exon2	c.G697A	p.E233K	PEVVGLDLRDLSEAHFAPC	PEVVGLDLRDLSKAHFAPC	1.0	9.0	-	-	4350_16:1840624-1840624 C>T_PEVVGLDLRDLSKAHFAPC
7:6370334-6370334 C>A	0.0	4350	COLON	-	-	-	-	FAM220A	uc021zzf.1,p.R151L|NM_001037163,p.R151L|uc003spu.3,p.R151L|ENST00000313324,p.R151L	protein_coding, processed_transcript	uc021zzf.1	nonsynonymous SNV	exon1	c.G452T	p.R151L	DGHRGQCPKGEPRVSRLPRHQKVPE	DGHRGQCPKGEPLVSRLPRHQKVPE	1.0	8.0	unscreened	-	4350_7:6370334-6370334 C>A_DGHRGQCPKGEPLVSRLPRHQKVPE
16:70986412-70986412 C>A	0.0	4350	COLON	-	-	-	-	HYDIN	uc031qwy.1,p.G2148V|NM_001270974,p.G2148V|ENST00000393567,p.G2148V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon41	c.G6443T	p.G2148V	VAPEIKPGKSVRGSVVITKSKADSH	VAPEIKPGKSVRVSVVITKSKADSH	3.0	1.0	-	-	4350_16:70986412-70986412 C>A_VAPEIKPGKSVRVSVVITKSKADSH
1:154574656-154574656 C>A	0.0	4350	COLON	-	-	-	-	ADAR	NM_015840,p.K154N|uc001ffi.3,p.K154N|uc001ffj.3,p.K154N|NM_015841,p.K154N|ENST00000529168,p.K149N|uc001ffh.3,p.K154N|NM_001111,p.K154N|ENST00000292205,p.K197N|ENST00000368474,p.K154N	retained_intron, protein_coding, processed_transcript	uc001ffj.3	nonsynonymous SNV	exon2	c.G462T	p.K154N	RILKFLEELGEGKATTAHDLSGKLG	RILKFLEELGEGNATTAHDLSGKLG	8.0	5.0	unscreened	-	4350_1:154574656-154574656 C>A_RILKFLEELGEGNATTAHDLSGKLG
5:54401322-54401322 G>A	0.0	4350	COLON	-	-	-	-	GZMA	NM_006144,p.G31R|ENST00000274306,p.G31R|uc003jpm.3,p.G31R	protein_coding	uc003jpm.3	nonsynonymous SNV	exon2	c.G91A	p.G31R	LLIPEDVCEKIIGGNEVTPHSRPYM	LLIPEDVCEKIIRGNEVTPHSRPYM	1.0	9.0	-	-	4350_5:54401322-54401322 G>A_LLIPEDVCEKIIRGNEVTPHSRPYM
9:126776271-126776271 C>T	0.0	4350	COLON	-	-	-	-	LHX2	uc004boe.1,p.A51V|ENST00000373615,p.A51V|NM_004789,p.A51V|uc010mwi.1,p.A51V	protein_coding, processed_transcript	uc010mwi.1	nonsynonymous SNV	exon2	c.C152T	p.A51V	ETTMPSISSDRAALCAGCGGKISDR	ETTMPSISSDRAVLCAGCGGKISDR	1.0	6.0	-	-	4350_9:126776271-126776271 C>T_ETTMPSISSDRAVLCAGCGGKISDR
19:19655815-19655815 G>T	0.0	4350	COLON	-	-	-	-	CILP2	uc002nmv.4,p.A821S|ENST00000291495,p.A821S|NM_153221,p.A821S|uc002nmw.4,p.A827S|ENST00000586018,p.A827S	retained_intron, protein_coding	uc002nmw.4	nonsynonymous SNV	exon8	c.G2479T	p.A827S	VTATLGGEELEPAPSLPRPLPATVG	VTATLGGEELEPSPSLPRPLPATVG	1.0	10.0	-	-	4350_19:19655815-19655815 G>T_VTATLGGEELEPSPSLPRPLPATVG
5:140870164-140870164 C>T	0.0	4350	COLON	-	-	-	-	PCDHGC5	ENST00000252087,p.R453C|NM_032407,p.R453C|uc011dbc.2,p.R453C|uc003lla.2,p.R453C|NM_018929,p.R453C	protein_coding	uc011dbc.2	nonsynonymous SNV	exon1	c.C1357T	p.R453C	RLNISDVNDNAPRFNQQLYTAYILE	RLNISDVNDNAPCFNQQLYTAYILE	1.0	8.0	-	-	4350_5:140870164-140870164 C>T_RLNISDVNDNAPCFNQQLYTAYILE
8:42612146-42612146 A>T	0.0	4350	COLON	-	-	-	-	CHRNA6	ENST00000276410,p.M100K|uc003xpj.3,p.M100K|NM_004198,p.M100K|ENST00000533810,p.M21K	retained_intron, protein_coding, processed_transcript	uc003xpj.3	nonsynonymous SNV	exon4	c.T299A	p.M100K	HIWNDYKLRWDPMEYDGIETLRVPA	HIWNDYKLRWDPKEYDGIETLRVPA	1.0	9.0	-	-	4350_8:42612146-42612146 A>T_HIWNDYKLRWDPKEYDGIETLRVPA
8:42612146-42612146 A>T	0.0	4350	COLON	-	-	-	-	CHRNA6	NM_001199279,p.M85K|ENST00000534622,p.M85K|uc011lcw.2,p.M85K	retained_intron, protein_coding, processed_transcript	uc011lcw.2	nonsynonymous SNV	exon3	c.T254A	p.M85K	VIWNDYKLRWDPMEYDGIETLRVPA	VIWNDYKLRWDPKEYDGIETLRVPA	1.0	9.0	-	-	4350_8:42612146-42612146 A>T_VIWNDYKLRWDPKEYDGIETLRVPA
19:35550607-35550607 T>C	0.0	4350	COLON	-	-	-	-	HPN	uc010xsi.2,p.M100V	retained_intron, protein_coding, processed_transcript	uc010xsi.2	nonsynonymous SNV	exon4	c.A298G	p.M100V	SSRHVPSVLSKTMSRASAELTCTAG	SSRHVPSVLSKTVSRASAELTCTAG	4.0	6.0	unscreened	-	4350_19:35550607-35550607 T>C_SSRHVPSVLSKTVSRASAELTCTAG
20:37255766-37255766 C>T	0.0	4350	COLON	-	-	ID=COSM1411699;OCCURENCE=1(large_intestine)	-	ARHGAP40	ENST00000373345,p.R103C|NM_001164431,p.R155C|uc021wdn.1,p.R155C	protein_coding	uc021wdn.1	nonsynonymous SNV	exon3	c.C463T	p.R155C	STLTQTQVAAVCRRLDIYARSVRRQ	STLTQTQVAAVCCRLDIYARSVRRQ	1.0	7.0	-	-	4350_20:37255766-37255766 C>T_STLTQTQVAAVCCRLDIYARSVRRQ
14:20388891-20388891 T>A	0.0	4350	COLON	-	-	-	-	OR4K5	NM_001005483,p.N42K|ENST00000315915,p.N42K|uc010tkw.2,p.N42K	protein_coding	uc010tkw.2	nonsynonymous SNV	exon1	c.T126A	p.N42K	FFSVLYTVIVLGNLLIILTVTSDTS	FFSVLYTVIVLGKLLIILTVTSDTS	1.0	3.0	-	-	4350_14:20388891-20388891 T>A_FFSVLYTVIVLGKLLIILTVTSDTS
6:107955181-107955181 T>C	0.0	4350	COLON	-	-	-	-	SOBP	NM_018013,p.V378A|uc003prx.3,p.V378A|ENST00000317357,p.V378A	retained_intron, protein_coding, processed_transcript	uc003prx.3	nonsynonymous SNV	exon6	c.T1133C	p.V378A	VQPPASIGPPLGVPPRSPPMVMTNR	VQPPASIGPPLGAPPRSPPMVMTNR	5.0	8.0	-	-	4350_6:107955181-107955181 T>C_VQPPASIGPPLGAPPRSPPMVMTNR
10:135438635-135438635 T>G	0.0	4350	COLON	-	rs74762197	-	-	FRG2B	ENST00000425520,p.T269P|uc010qvg.2,p.T269P|ENST00000443774,p.T270P|NM_001080998,p.T269P	protein_coding, processed_transcript	uc010qvg.2	nonsynonymous SNV	exon4	c.A805C	p.T269P	EAHPFPGQEITETVSGSDEAKL	EAHPFPGQEITEPVSGSDEAKL	1.0	7.0	-	-	4350_10:135438635-135438635 T>G_EAHPFPGQEITEPVSGSDEAKL
1:23346133-23346144 CAGCGGCAGCAA>-	0.0	4350	COLON	-	-	-	-	KDM1A	NM_015013,p.15_19del|NM_001009999,p.15_19del|ENST00000400181,p.15_19del|ENST00000542151,p.15_19del|uc001bgj.2,p.15_19del|ENST00000356634,p.15_19del|uc001bgi.2,p.15_19del	protein_coding, processed_transcript	uc001bgj.2	nonframeshift deletion	exon1	c.44_55del	p.15_19del	SGKKAAAAAAAAAAAATGTEAGPGTA	SGKKAAAAAAAAAGTEAGPGTAGGS	6.0	7.0	unscreened	-	4350_1:23346133-23346144 CAGCGGCAGCAA>-_SGKKAAAAAAAAAGTEAGPGTAGGS
18:22807260-22807260 G>A	0.0	4350	COLON	-	-	-	1	ZNF521	ENST00000577801,p.R208C|ENST00000538137,p.R208C|ENST00000399425,p.R208C|uc002kvk.2,p.R208C|uc010dly.2,p.R208C|ENST00000361524,p.R208C|NM_015461,p.R208C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dly.2	nonsynonymous SNV	exon4	c.C622T	p.R208C	HTSNKPYKCAICRRGFLSSSSLHGH	HTSNKPYKCAICCRGFLSSSSLHGH	1.0	8.0	-	-	4350_18:22807260-22807260 G>A_HTSNKPYKCAICCRGFLSSSSLHGH
7:134130040-134130040 C>G	0.0	4350	COLON	-	-	-	-	AKR1B1	NM_001628,p.M286I|ENST00000285930,p.M286I|uc003vrp.1,p.M286I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vrp.1	nonsynonymous SNV	exon9	c.G858C	p.M286I	FKVFDFELSSQDMTTLLSYNRNWRV	FKVFDFELSSQDITTLLSYNRNWRV	2.0	2.0	-	-	4350_7:134130040-134130040 C>G_FKVFDFELSSQDITTLLSYNRNWRV
3:48810477-48810477 G>A	0.0	4350	COLON	-	-	-	-	PRKAR2A	NM_004157,p.R203C|ENST00000454963,p.R203C|uc003cux.1,p.R203C|ENST00000296446,p.R203C|uc003cuy.1,p.R203C|uc010hki.1,p.R203C|ENST00000265563,p.R203C	protein_coding	uc010hki.1	nonsynonymous SNV	exon6	c.C607T	p.R203C	DNQTRSVGQYDNRGSFGELALMYNT	DNQTRSVGQYDNCGSFGELALMYNT	5.0	7.0	-	-	4350_3:48810477-48810477 G>A_DNQTRSVGQYDNCGSFGELALMYNT
12:29597133-29597133 T>G	0.0	4350	COLON	-	-	-	-	OVCH1	uc001rix.1,p.T988P|ENST00000537054,p.T13P|NM_183378,p.T988P|ENST00000318184,p.T988P	protein_coding, nonsense_mediated_decay	uc001rix.1	nonsynonymous SNV	exon24	c.A2962C	p.T988P	REHLVPCEDVLLTKPEGIMQIPRNS	REHLVPCEDVLLPKPEGIMQIPRNS	1.0	3.0	-	-	4350_12:29597133-29597133 T>G_REHLVPCEDVLLPKPEGIMQIPRNS
16:57486732-57486734 GAG>-	1.0	4350	COLON	-	-	ID=COSM971830;OCCURENCE=1(endometrium)	-	COQ9	ENST00000567933,p.88_88del|ENST00000564655,p.92_92del|ENST00000564115,p.88_88del|ENST00000563166,p.70_70del|ENST00000262507,p.88_88del|uc002elq.3,p.88_88del|uc010vhn.2,p.88_88del|ENST00000565964,p.88_88del|NM_020312,p.88_88del|uc010vho.2,p.88_88del|uc002elp.2,p.88_88del|ENST00000567072,p.88_88del|uc010vhp.2,p.88_88del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vhp.2	nonframeshift deletion	exon3	c.262_264del	p.88_88del	SHSPPRYTDQGGEEEEDYESEEQLQH	SHSPPRYTDQGGEEEDYESEEQLQH	10.0	5.0	-	-	4350_16:57486732-57486734 GAG>-_SHSPPRYTDQGGEEEDYESEEQLQH
10:91514303-91514303 G>A	0.0	4350	COLON	-	-	-	-	KIF20B	NM_001284259,p.R1459K|uc001kgr.1,p.R1419K|ENST00000260753,p.R1419K|uc001kgs.1,p.R1459K|NM_016195,p.R1419K|uc001kgt.1,p.R670K|ENST00000416354,p.R1489K|ENST00000371728,p.R1459K|ENST00000394289,p.R1459K	protein_coding, processed_transcript	uc001kgt.1	nonsynonymous SNV	exon13	c.G2009A	p.R670K	ELQESEQKYNADRKKWLEEKMMLIT	ELQESEQKYNADKKKWLEEKMMLIT	3.0	8.0	-	-	4350_10:91514303-91514303 G>A_ELQESEQKYNADKKKWLEEKMMLIT
X:77913628-77913628 C>A	0.0	4350	COLON	-	-	-	-	ZCCHC5	ENST00000321110,p.W97L|uc022bzi.1,p.W97L|uc004edc.1,p.W97L|NM_152694,p.W97L	protein_coding	uc022bzi.1	nonsynonymous SNV	exon1	c.G290T	p.W97L	PQKPPEPQDLLPWEPPAAWELQEAP	PQKPPEPQDLLPLEPPAAWELQEAP	1.0	3.0	-	-	4350_X:77913628-77913628 C>A_PQKPPEPQDLLPLEPPAAWELQEAP
12:39716680-39716680 C>T	0.0	4350	COLON	-	-	ID=COSM175284;OCCURENCE=1(large_intestine)	-	KIF21A	ENST00000361961,p.R1141Q|ENST00000551264,p.R195Q|uc001rlz.3,p.R1118Q|NM_001173463,p.R1134Q|uc001rlv.3,p.R159Q|ENST00000541463,p.R1118Q|uc001rlx.3,p.R1141Q|NM_017641,p.R1141Q|uc010skl.2,p.R1134Q|NM_001173464,p.R1154Q|uc001rly.3,p.R1154Q|ENST00000395670,p.R1154Q|ENST00000361418,p.R1154Q|uc001rlw.3,p.R471Q|NM_001173465,p.R1118Q|ENST00000544797,p.R1134Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010skl.2	nonsynonymous SNV	exon25	c.G3401A	p.R1134Q	KLCGEVKPKNKARRRTTTQMELLYA	KLCGEVKPKNKAQRRTTTQMELLYA	4.0	7.0	-	-	4350_12:39716680-39716680 C>T_KLCGEVKPKNKAQRRTTTQMELLYA
13:103459708-103459708 G>A	0.0	4350	COLON	-	-	-	-	BIVM,BIVM-ERCC5	NM_017693,p.G31S|ENST00000257336,p.G31S|NM_001204425,p.G31S|ENST00000419638,p.G31S|uc001vps.3,p.G31S|uc001vpt.3,p.G31S|uc001vpu.2,p.G31S	retained_intron, protein_coding, processed_transcript	uc001vpu.2	nonsynonymous SNV	exon1	c.G91A	p.G31S	KSERKSPEENLQGAVKSFCTSASGA	KSERKSPEENLQSAVKSFCTSASGA	5.0	5.0	-	-	4350_13:103459708-103459708 G>A_KSERKSPEENLQSAVKSFCTSASGA
5:40841636-40841636 C>T	0.0	4350	COLON	-	-	-	-	CARD6	ENST00000254691,p.T51I|uc003jmg.3,p.T51I|NM_032587,p.T51I|ENST00000381677,p.T51I	protein_coding	uc003jmg.3	nonsynonymous SNV	exon1	c.C152T	p.T51I	ISEEEYETLENVTDLLKKSRKLLIL	ISEEEYETLENVIDLLKKSRKLLIL	4.0	3.0	-	-	4350_5:40841636-40841636 C>T_ISEEEYETLENVIDLLKKSRKLLIL
20:55746034-55746034 C>T	0.0	4350	COLON	-	-	-	-	BMP7	ENST00000395863,p.R426Q|uc010gip.1,p.R426Q|ENST00000395864,p.R360Q|NM_001719,p.R426Q	retained_intron, protein_coding, processed_transcript	uc010gip.1	nonsynonymous SNV	exon7	c.G1277A	p.R426Q	NVILKKYRNMVVRACGCH	NVILKKYRNMVVQACGCH	1.0	6.0	-	-	4350_20:55746034-55746034 C>T_NVILKKYRNMVVQACGCH
X:117700128-117700128 C>T	0.0	4350	COLON	-	-	-	-	DOCK11	NM_144658,p.T285M|ENST00000276202,p.T285M|ENST00000276204,p.T285M|uc004eqq.2,p.T51M|uc004eqp.2,p.T285M	protein_coding, processed_transcript	uc004eqq.2	nonsynonymous SNV	exon2	c.C152T	p.T51M	INTDSLVQEKKETVETAQDDETSSQ	INTDSLVQEKKEMVETAQDDETSSQ	4.0	6.0	-	-	4350_X:117700128-117700128 C>T_INTDSLVQEKKEMVETAQDDETSSQ
3:195513847-195513847 A>T	0.0	4350	COLON	-	-	-	2	MUC4	uc021xjp.1,p.M1535K|NM_018406,p.M1535K|ENST00000463781,p.M1535K|ENST00000466475,p.M1535K|ENST00000479406,p.M1535K|ENST00000480843,p.M1535K|ENST00000470451,p.M1535K|ENST00000478156,p.M1535K|ENST00000462323,p.M1535K|ENST00000477086,p.M1535K|ENST00000475231,p.M1535K|ENST00000477756,p.M1535K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.T4604A	p.M1535K	VTSLSSASTGDTMPLPVTSPSSAST	VTSLSSASTGDTKPLPVTSPSSAST	3.0	2.0	unscreened	-	4350_3:195513847-195513847 A>T_VTSLSSASTGDTKPLPVTSPSSAST
3:27761717-27761717 C>G	0.0	4350	COLON	-	-	-	-	EOMES	ENST00000537516,p.W32C|NM_001278182,p.W327C|uc003cdx.4,p.W327C|uc011axc.2,p.W32C|NM_005442,p.W327C|uc003cdy.4,p.W327C|ENST00000295743,p.W327C|NM_001278183,p.W32C|uc010hfn.3,p.W327C|ENST00000449599,p.W327C	protein_coding, processed_transcript	uc011axc.2	nonsynonymous SNV	exon2	c.G96C	p.W32C	VFVEVVLADPNHWRFQGGKWVTCGK	VFVEVVLADPNHCRFQGGKWVTCGK	1.0	2.0	-	-	4350_3:27761717-27761717 C>G_VFVEVVLADPNHCRFQGGKWVTCGK
X:73961202-73961202 G>A	0.0	4350	COLON	-	-	-	-	KIAA2022	NM_001008537,p.R1064C|uc004eby.3,p.R1064C|ENST00000373468,p.R1064C|ENST00000055682,p.R1064C	protein_coding	uc004eby.3	nonsynonymous SNV	exon3	c.C3190T	p.R1064C	LLDISNFTPDKFRHSSLSEMSPPDT	LLDISNFTPDKFCHSSLSEMSPPDT	1.0	3.0	-	-	4350_X:73961202-73961202 G>A_LLDISNFTPDKFCHSSLSEMSPPDT
17:39118511-39118511 G>A	0.0	4350	COLON	-	-	-	-	KRT39	NM_213656,p.T300I|uc002hvo.1,p.T300I|ENST00000355612,p.T300I|uc010wfm.1,p.T33I	retained_intron, protein_coding, nonsense_mediated_decay	uc010wfm.1	nonsynonymous SNV	exon6	c.C98T	p.T33I	NTQIEELNQQVVTSSQQQQCCQKEI	NTQIEELNQQVVISSQQQQCCQKEI	1.0	6.0	-	-	4350_17:39118511-39118511 G>A_NTQIEELNQQVVISSQQQQCCQKEI
9:119124954-119124954 G>C	0.0	4350	COLON	-	-	-	-	PAPPA	NM_002581,p.Q1477H|uc011lxq.2,p.Q852H|uc004bjn.3,p.Q1477H|ENST00000534838,p.Q515H|ENST00000328252,p.Q1477H	protein_coding, processed_transcript	uc011lxq.2	nonsynonymous SNV	exon12	c.G2556C	p.Q852H	NGSFHVCQEMQGQCSVPNELNSNLK	NGSFHVCQEMQGHCSVPNELNSNLK	2.0	3.0	-	-	4350_9:119124954-119124954 G>C_NGSFHVCQEMQGHCSVPNELNSNLK
X:86890669-86890669 C>T	0.0	4350	COLON	-	-	-	-	KLHL4	ENST00000373119,p.R607C|uc004efb.2,p.R607C|NM_057162,p.R607C|ENST00000373114,p.R607C|uc004efa.2,p.R607C|NM_019117,p.R607C	protein_coding	uc004efb.2	nonsynonymous SNV	exon9	c.C1819T	p.R607C	NKWSLCAPMSKRRGGVGVATYNGFL	NKWSLCAPMSKRCGGVGVATYNGFL	1.0	3.0	-	-	4350_X:86890669-86890669 C>T_NKWSLCAPMSKRCGGVGVATYNGFL
8:123966232-123966232 G>A	0.0	4350	COLON	-	-	-	-	ZHX2	uc003ypk.1,p.D828N|uc022bag.1,p.D828N|NM_014943,p.D828N|ENST00000314393,p.D828N	protein_coding	uc022bag.1	nonsynonymous SNV	exon1	c.G2482A	p.D828N	AEGVSELAESDSDCVPAEAGQA	AEGVSELAESDSNCVPAEAGQA	6.0	5.0	-	-	4350_8:123966232-123966232 G>A_AEGVSELAESDSNCVPAEAGQA
1:109191277-109191281 CTGAT>-	0.0	4350	COLON	-	-	-	-	HENMT1	NM_001102592,p.R363fs|uc001dvu.4,p.R363fs|ENST00000402983,p.R363fs|uc001dvt.4,p.R363fs|ENST00000370032,p.R363fs|ENST00000370031,p.R394fs|NM_144584,p.R363fs	protein_coding, processed_transcript	uc001dvu.4	frameshift deletion	exon8	c.1089_1093del	p.R363fs	KLNRLCANEEMMRSVIADSIPLSSDG	KLNRLCANEEMMSHC	5.0	4.0	-	-	4350_1:109191277-109191281 CTGAT>-_KLNRLCANEEMMSHC
17:38991243-38991243 T>C	0.0	4350	COLON	-	-	-	-	TMEM99	uc021txc.1,p.S159P|uc021txe.1,p.S159P|NM_145274,p.S159P|NM_001195386,p.S159P|ENST00000301665,p.S159P|uc002hvj.1,p.S159P|NM_001195387,p.S159P|ENST00000436612,p.S159P|uc021txd.1,p.S159P	protein_coding, processed_transcript	uc021txe.1	nonsynonymous SNV	exon1	c.T475C	p.S159P	VPVSGESTSAQQSHAGWQLSAEADA	VPVSGESTSAQQPHAGWQLSAEADA	1.0	5.0	-	-	4350_17:38991243-38991243 T>C_VPVSGESTSAQQPHAGWQLSAEADA
14:52485845-52485845 C>A	0.0	4350	COLON	-	-	-	-	NID2	uc010tqt.1,p.G988C|uc001wzp.3,p.G988C|ENST00000216286,p.G988C|uc001wzo.3,p.G988C|ENST00000541773,p.G887C|NM_007361,p.G988C|uc010tqs.2,p.G940C	retained_intron, protein_coding	uc010tqt.1	nonsynonymous SNV	exon14	c.G2962T	p.G988C	GSTGFCWCVDPDGHEVPGTQTPPGS	GSTGFCWCVDPDCHEVPGTQTPPGS	3.0	2.0	-	-	4350_14:52485845-52485845 C>A_GSTGFCWCVDPDCHEVPGTQTPPGS
18:28986227-28986227 A>G	0.0	4350	COLON	-	-	-	-	DSG4	NM_001134453,p.I608M|uc002kwq.2,p.I608M|ENST00000308128,p.I608M|NM_177986,p.I608M|ENST00000359747,p.I608M|uc002kwr.2,p.I608M	protein_coding	uc002kwr.2	nonsynonymous SNV	exon12	c.A1824G	p.I608M	LDSGAAGIYTEDITGDTYGPVTEDQ	LDSGAAGIYTEDMTGDTYGPVTEDQ	1.0	2.0	-	-	4350_18:28986227-28986227 A>G_LDSGAAGIYTEDMTGDTYGPVTEDQ
12:40837998-40837998 A>C	0.0	4350	COLON	-	-	-	-	MUC19	ENST00000425730,p.Q860H	retained_intron, protein_coding, processed_transcript	ENST00000425730	nonsynonymous SNV	exon28	c.A2580C	p.Q860H	GALEFGNSWKTSQECSDTVAQTFPC	GALEFGNSWKTSHECSDTVAQTFPC	1.0	1.0	unscreened	-	4350_12:40837998-40837998 A>C_GALEFGNSWKTSHECSDTVAQTFPC
16:67861886-67861886 C>G	0.0	4350	COLON	-	-	-	-	TSNAXIP1	NM_001288994,p.P364R|NM_001288991,p.P641R|uc002euj.3,p.P656R|ENST00000388833,p.P656R|uc002euk.3,p.P389R|NM_001288993,p.P364R|uc002euh.4,p.P364R|NM_018430,p.P656R|uc002eui.4,p.P364R|ENST00000561639,p.P710R|uc010vka.2,p.P710R|uc010vkb.2,p.P641R|NM_001288992,p.P364R|ENST00000415766,p.P641R|NM_001288990,p.P710R	retained_intron, protein_coding, nonsense_mediated_decay	uc010vkb.2	nonsynonymous SNV	exon14	c.C1922G	p.P641R	IDIRRVGPREPEPAS	IDIRRVGPREPERAS	4.0	3.0	unscreened	-	4350_16:67861886-67861886 C>G_IDIRRVGPREPERAS
15:84237411-84237411 A>T	0.0	4350	COLON	-	-	-	-	SH3GL3	uc010uot.1,p.E106D|NM_001301108,p.E37D|uc002bjw.3,p.E106D|NM_001301109,p.E114D|ENST00000427482,p.E106D|ENST00000535412,p.E106D|NM_003027,p.E106D|uc002bjx.3,p.E37D|uc002bju.3,p.E114D|ENST00000434347,p.E114D|ENST00000324537,p.E114D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uot.1	nonsynonymous SNV	exon4	c.A318T	p.E106D	GDCMLKYGKELGEDSTFGNALIEVG	GDCMLKYGKELGDDSTFGNALIEVG	1.0	4.0	-	-	4350_15:84237411-84237411 A>T_GDCMLKYGKELGDDSTFGNALIEVG
11:551663-551663 G>A	0.0	4350	COLON	-	-	-	-	LRRC56	ENST00000270115,p.G270E|uc010qvz.2,p.G270E|NM_198075,p.G270E	protein_coding	uc010qvz.2	nonsynonymous SNV	exon10	c.G809A	p.G270E	KGNGLPPLDCPRGAPIRRLDPELSL	KGNGLPPLDCPREAPIRRLDPELSL	3.0	3.0	-	-	4350_11:551663-551663 G>A_KGNGLPPLDCPREAPIRRLDPELSL
6:31324465-31324465 C>T	1.0	4350	COLON	-	-	ID=COSM4006333;OCCURENCE=1(urinary_tract)	-	HLA-B	uc021yum.1,p.G126S	retained_intron, protein_coding, nonsense_mediated_decay	uc021yum.1	nonsynonymous SNV	exon1	c.G376A	p.G126S	RNLRGYYNQSEAGE	RNLRGYYNQSEASE	10.0	1.0	unscreened	-	4350_6:31324465-31324465 C>T_RNLRGYYNQSEASE
16:67861885-67861885 C>A	0.0	4350	COLON	-	-	-	-	TSNAXIP1	NM_001288990,p.P710T|NM_001288994,p.P364T|uc002eui.4,p.P364T|NM_018430,p.P656T|NM_001288992,p.P364T|ENST00000388833,p.P656T|uc002euk.3,p.P389T|ENST00000415766,p.P641T|NM_001288991,p.P641T|uc010vkb.2,p.P641T|ENST00000561639,p.P710T|uc010vka.2,p.P710T|NM_001288993,p.P364T|uc002euh.4,p.P364T|uc002euj.3,p.P656T	retained_intron, protein_coding, nonsense_mediated_decay	uc010vkb.2	nonsynonymous SNV	exon14	c.C1921A	p.P641T	IDIRRVGPREPEPAS	IDIRRVGPREPETAS	4.0	3.0	unscreened	-	4350_16:67861885-67861885 C>A_IDIRRVGPREPETAS
X:12734502-12734502 G>C	0.0	4350	COLON	-	-	-	-	FRMPD4	uc004cuz.2,p.A642P|ENST00000380682,p.A642P|uc011mij.2,p.A634P|NM_014728,p.A642P	protein_coding	uc011mij.2	nonsynonymous SNV	exon16	c.G1900C	p.A634P	LLTLSGPETLKKAQESPRGAKVSFI	LLTLSGPETLKKPQESPRGAKVSFI	1.0	2.0	-	-	4350_X:12734502-12734502 G>C_LLTLSGPETLKKPQESPRGAKVSFI
16:30016653-30016653 C>-	0.0	4350	COLON	-	-	ID=COSM184911;OCCURENCE=2(large_intestine)	-	INO80E	ENST00000567705,p.P192fs|uc002dvg.1,p.P209fs|ENST00000563197,p.P209fs|ENST00000304516,p.P170fs|NM_173618,p.P209fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dvg.1	frameshift deletion	exon7	c.625delC	p.P209fs	GTTLTPLPPPKMPPPTILSTVPRQMF	GTTLTPLPPPKMPPPRS	9.0	2.0	-	-	4350_16:30016653-30016653 C>-_GTTLTPLPPPKMPPPRS
16:816762-816762 G>A	1.0	4359	COLON	-	-	-	-	MSLN	uc002cjt.1,p.C442Y|ENST00000545450,p.C442Y|ENST00000561896,p.C146Y|ENST00000566549,p.C442Y|uc002cjw.2,p.C450Y|uc002cju.1,p.C442Y|ENST00000563941,p.C442Y|ENST00000382862,p.C450Y|NM_001177355,p.C442Y|uc002cjy.1,p.C107Y|NM_005823,p.C442Y|NM_013404,p.C450Y|uc010brd.1,p.C441Y	protein_coding	uc010brd.1	nonsynonymous SNV	exon13	c.G1322A	p.C441Y	LDTLTAFYPGYLCSLSPEELSSVPP	LDTLTAFYPGYLYSLSPEELSSVPP	9.0	9.0	-	-	4359_16:816762-816762 G>A_LDTLTAFYPGYLYSLSPEELSSVPP
5:112175490-112175490 C>G	1.0	4359	COLON	-	-	-	1	APC	uc010jca.3,p.S700W|NM_000038,p.S1400W|uc010jbz.3,p.S1117W|ENST00000457016,p.S1400W|NM_001127511,p.S1382W|uc003kpy.4,p.S1400W|ENST00000257430,p.S1400W|ENST00000508376,p.S1400W|uc011cvt.2,p.S1382W|NM_001127510,p.S1400W|uc003kpz.4,p.S1400W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	nonsynonymous SNV	exon14	c.C4145G	p.S1382W	TSVSSLDSFESRSIASSVQSEPCSG	TSVSSLDSFESRWIASSVQSEPCSG	8.0	10.0	unscreened	-	4359_5:112175490-112175490 C>G_TSVSSLDSFESRWIASSVQSEPCSG
15:91424520-91424520 C>G	1.0	4359	COLON	-	-	-	-	FURIN	NM_001289823,p.C599W|NM_002569,p.C599W|NM_001289824,p.C599W|ENST00000268171,p.C599W|uc002bpu.1,p.C599W	retained_intron, protein_coding, nonsense_mediated_decay	uc002bpu.1	nonsynonymous SNV	exon16	c.C1797G	p.C599W	CKTLTSSQACVVCEEGFSLHQKSCV	CKTLTSSQACVVWEEGFSLHQKSCV	7.0	5.0	-	-	4359_15:91424520-91424520 C>G_CKTLTSSQACVVWEEGFSLHQKSCV
16:89858938-89858938 T>A	1.0	4359	COLON	-	-	-	1	FANCA	ENST00000568369,p.M342L|uc002fou.1,p.M342L|NM_001286167,p.M342L|uc010vpn.1,p.M342L|ENST00000389301,p.M342L|NM_000135,p.M342L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vpn.1	nonsynonymous SNV	exon12	c.A1024T	p.M342L	HSPVLKASDAVQMQREWSFARTHPL	HSPVLKASDAVQLQREWSFARTHPL	9.0	6.0	-	-	4359_16:89858938-89858938 T>A_HSPVLKASDAVQLQREWSFARTHPL
7:66406956-66406956 T>G	1.0	4359	COLON	-	-	-	-	TMEM248	uc003tvk.3,p.L35R|ENST00000607045,p.L35R|ENST00000341567,p.L35R|ENST00000433271,p.L35R|ENST00000418375,p.L35R|NM_017994,p.L35R|ENST00000413593,p.L35R|ENST00000424964,p.L35R	retained_intron, protein_coding, nonsense_mediated_decay	uc003tvk.3	nonsynonymous SNV	exon2	c.T104G	p.L35R	FMISVSAMAIAFLTLGYFFKIKEIK	FMISVSAMAIAFRTLGYFFKIKEIK	9.0	4.0	-	-	4359_7:66406956-66406956 T>G_FMISVSAMAIAFRTLGYFFKIKEIK
19:53578408-53578408 A>G	1.0	4359	COLON	-	-	-	-	ZNF160	ENST00000418871,p.I15T|NM_198893,p.I15T|uc002qas.4,p.I15T|ENST00000429604,p.I15T|ENST00000599056,p.I15T|ENST00000599247,p.I15T|uc010eqk.3,p.I15T|uc002qaq.4,p.I15T|NM_001102603,p.I15T|uc002qar.4,p.I15T|ENST00000355147,p.I15T|NM_033288,p.I15T	retained_intron, protein_coding, processed_transcript	uc010eqk.3	nonsynonymous SNV	exon5	c.T44C	p.I15T	LTQVRLTFRDVAIEFSQEEWKCLDP	LTQVRLTFRDVATEFSQEEWKCLDP	9.0	6.0	-	-	4359_19:53578408-53578408 A>G_LTQVRLTFRDVATEFSQEEWKCLDP
3:150286008-150286008 G>C	1.0	4359	COLON	-	-	-	-	EIF2A	uc003eyb.3,p.G120A|uc011bnv.2,p.G222A|ENST00000487799,p.G222A|ENST00000273435,p.G242A|uc003eya.3,p.G247A|ENST00000406576,p.G186A|ENST00000383043,p.G33A|uc011bnw.2,p.G186A|uc003eyd.3,p.G22A|NM_032025,p.G247A|uc003eyc.3,p.G120A|ENST00000460851,p.G247A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bnw.2	nonsynonymous SNV	exon7	c.G557C	p.G186A	VLVIASTDVDKTGASYYGEQTLHYI	VLVIASTDVDKTAASYYGEQTLHYI	10.0	8.0	CD8	-	4359_3:150286008-150286008 G>C_VLVIASTDVDKTAASYYGEQTLHYI
6:88211028-88211028 G>-	1.0	4359	COLON	-	-	-	-	SLC35A1	ENST00000369556,p.V169fs|NM_006416,p.V169fs|uc010kbx.3,p.V169fs|NM_001168398,p.V169fs|uc011dzj.2,p.V169fs|ENST00000544441,p.V35fs|ENST00000369552,p.V169fs|uc011dzi.2,p.V35fs	protein_coding, processed_transcript	uc011dzj.2	frameshift deletion	exon4	c.507delG	p.V169fs	LVQWKPAQATKVVVEQNPLLGFGAIA	LVQWKPAQATKVVWNKIHY	9.0	2.0	-	-	4359_6:88211028-88211028 G>-_LVQWKPAQATKVVWNKIHY
8:109247307-109247307 G>A	1.0	4359	COLON	-	-	-	1	EIF3E	uc003ymt.3,p.L82F|uc003ymu.3,p.L131F|ENST00000220849,p.L131F|uc010mcj.1,p.L131F|ENST00000519030,p.L38F|NM_001568,p.L131F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mcj.1	nonsynonymous SNV	exon5	c.C391T	p.L131F	DKHGFRQEYLDTLYRYAKFQYECGN	DKHGFRQEYLDTFYRYAKFQYECGN	10.0	4.0	-	-	4359_8:109247307-109247307 G>A_DKHGFRQEYLDTFYRYAKFQYECGN
6:32147804-32147804 G>C	1.0	4359	COLON	-	-	-	-	RNF5	uc031snv.1,p.D116H|NM_006913,p.D116H|ENST00000375094,p.D116H|uc003oaj.4,p.D116H|ENST00000427134,p.D116H	protein_coding, processed_transcript	uc031snv.1	nonsynonymous SNV	exon5	c.G346C	p.D116H	APESRGGFQPFGDTGGFHFSFGVGA	APESRGGFQPFGHTGGFHFSFGVGA	9.0	7.0	-	-	4359_6:32147804-32147804 G>C_APESRGGFQPFGHTGGFHFSFGVGA
20:35155400-35155400 A>C	1.0	4359	COLON	-	-	-	-	DLGAP4	uc002xff.3,p.E979A|NM_183006,p.E443A|ENST00000339266,p.E982A|ENST00000340491,p.E443A|uc002xfg.3,p.E275A|ENST00000373913,p.E979A|uc002xfj.3,p.E275A|ENST00000401952,p.E979A|NM_014902,p.E979A|NM_001042486,p.E275A|uc002xfh.3,p.E443A|uc010zvp.2,p.E979A|ENST00000373907,p.E982A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zvp.2	nonsynonymous SNV	exon12	c.A2936C	p.E979A	RQNSATESADSIEIYVPEAQTRL	RQNSATESADSIAIYVPEAQTRL	9.0	1.0	-	-	4359_20:35155400-35155400 A>C_RQNSATESADSIAIYVPEAQTRL
14:92555107-92555107 G>C	1.0	4359	COLON	-	-	ID=COSM3793959,COSM3793958,COSM3793960;OCCURENCE=1(urinary_tract)	-	ATXN3	ENST00000556671,p.L97V|ENST00000554673,p.L148V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000556671	nonsynonymous SNV	exon4	c.C289G	p.L97V	LLTGPELISDTYLALFLAQLQQEVT	LLTGPELISDTYVALFLAQLQQEVT	8.0	7.0	unscreened	-	4359_14:92555107-92555107 G>C_LLTGPELISDTYVALFLAQLQQEVT
14:92555107-92555107 G>C	1.0	4359	COLON	-	-	ID=COSM3793959,COSM3793958,COSM3793960;OCCURENCE=1(urinary_tract)	-	ATXN3	NM_004993,p.L148V|uc010aug.3,p.L133V|uc021sak.1,p.L97V|uc021sab.1,p.L148V|ENST00000393287,p.L148V|uc021sai.1,p.L50V|uc021rys.1,p.L50V|ENST00000553491,p.L97V|ENST00000557030,p.L82V|uc021ryu.1,p.L97V|NM_001164781,p.L78V|ENST00000503767,p.L133V|uc001yac.4,p.L148V|uc021rzv.1,p.L103V|uc021sal.1,p.L50V|NM_001127696,p.L133V|ENST00000555381,p.L78V|NM_001127697,p.L97V|uc021san.1,p.L96V|ENST00000429774,p.L133V|uc021rzp.1,p.L50V|ENST00000340660,p.L93V|uc021ryx.1,p.L78V|uc001yae.4,p.L50V|uc021sah.1,p.L93V|ENST00000554592,p.L147V|ENST00000545170,p.L148V|uc021sag.1,p.L42V|ENST00000532032,p.L148V|NM_001164779,p.L27V|ENST00000506466,p.L82V|uc001yad.4,p.L93V|uc021sao.1,p.L82V|ENST00000556220,p.L42V|ENST00000554672,p.L50V|NM_030660,p.L93V|uc021rzo.1,p.L148V|uc021ryy.1,p.L27V|uc021sae.1,p.L147V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021sao.1	nonsynonymous SNV	exon3	c.C244G	p.L82V	LLTGPELISDTYLALFLAQLQQEGY	LLTGPELISDTYVALFLAQLQQEGY	8.0	7.0	-	-	4359_14:92555107-92555107 G>C_LLTGPELISDTYVALFLAQLQQEGY
12:46123836-46123836 ->A	1.0	4359	COLON	-	-	ID=COSM1245452;OCCURENCE=1(oesophagus)	1	ARID2	ENST00000334344,p.F34fs|NM_152641,p.F34fs|uc001ros.1,p.F34fs|uc001ror.3,p.F34fs	retained_intron, protein_coding, processed_transcript	uc001ros.1	frameshift insertion	exon2	c.103dupA	p.F34fs	ELRQFHHSRGSPFKKIPAVGGKELD	ELRQFHHSRGSPFKKNPCGGWEGAGSSRSLHQSHYFRRIREGF	9.0	10.0	-	-	4359_12:46123836-46123836 ->A_ELRQFHHSRGSPFKKNPCGGWEGAGSSRSLHQSHYFRRIREGF
1:94643616-94643616 G>A	1.0	4359	COLON	-	-	-	-	ARHGAP29	uc001dqj.4,p.S863F|ENST00000552844,p.S863F|ENST00000260526,p.S863F|NM_004815,p.S863F|uc001dqk.3,p.S429F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dqk.3	nonsynonymous SNV	exon9	c.C1286T	p.S429F	IRPRPTTAPITISSLAEYSNQARLV	IRPRPTTAPITIFSLAEYSNQARLV	6.0	7.0	-	-	4359_1:94643616-94643616 G>A_IRPRPTTAPITIFSLAEYSNQARLV
3:130683835-130683837 GAA>-	1.0	4359	COLON	-	-	-	-	ATP2C1	ENST00000510168,p.356_357del|NM_001199182,p.351_352del|uc003enp.3,p.356_357del|uc003ens.3,p.356_357del|uc003enu.3,p.34_35del|uc003enn.3,p.340_341del|NM_001199184,p.340_341del|uc003enl.3,p.356_357del|NM_001199183,p.340_341del|NM_001199185,p.356_357del|NM_001001487,p.356_357del|NM_001001486,p.356_357del|NM_014382,p.356_357del|uc003enm.3,p.356_357del|NM_001199179,p.356_357del|uc003ent.3,p.356_357del|ENST00000428331,p.356_357del|ENST00000422190,p.356_357del|ENST00000393221,p.390_391del|ENST00000328560,p.356_357del|ENST00000515854,p.95_96del|ENST00000504948,p.340_341del|uc011blh.2,p.351_352del|ENST00000359644,p.356_357del|NM_001001485,p.356_357del|ENST00000504381,p.301_302del|NM_001199181,p.390_391del|ENST00000508532,p.356_357del|ENST00000533801,p.351_352del|uc003eno.3,p.356_357del|ENST00000504571,p.43_44del|ENST00000505330,p.340_341del|uc011bli.2,p.390_391del|uc003enk.3,p.340_341del|ENST00000507488,p.340_341del|NM_001199180,p.390_391del|ENST00000513801,p.340_341del|uc011blg.2,p.390_391del	retained_intron, protein_coding, nonsense_mediated_decay	uc011bli.2	nonframeshift deletion	exon13	c.1170_1172del	p.390_391del	CNVICSDKTGTLTKNEMTVTHIFTSD	CNVICSDKTGTLTNEMTVTHIFTSD	10.0	9.0	-	-	4359_3:130683835-130683837 GAA>-_CNVICSDKTGTLTNEMTVTHIFTSD
10:19981483-19981483 G>T	1.0	4359	COLON	-	-	-	-	MALRD1	NM_001142308,p.R2105M|ENST00000454679,p.R1422M|ENST00000455457,p.R299M|uc010qcr.1,p.R62M|ENST00000377266,p.R1435M	protein_coding, processed_transcript	uc010qcr.1	nonsynonymous SNV	exon3	c.G185T	p.R62M	VLCFLANRKVPIRKTEGSGNCAFVN	VLCFLANRKVPIMKTEGSGNCAFVN	10.0	5.0	unscreened	-	4359_10:19981483-19981483 G>T_VLCFLANRKVPIMKTEGSGNCAFVN
6:88211028-88211028 G>-	1.0	4359	COLON	-	-	-	-	SLC35A1	ENST00000369557,p.V169fs	protein_coding, processed_transcript	ENST00000369557	frameshift deletion	exon4	c.507delG	p.V169fs	LVQWKPAQATKVVFLQVLVASTLLLW	LVQWKPAQATKVVSCKCWWPLHFCCG	9.0	2.0	unscreened	-	4359_6:88211028-88211028 G>-_LVQWKPAQATKVVSCKCWWPLHFCCG
16:3707324-3707324 C>G	1.0	4359	COLON	-	-	-	-	DNASE1	ENST00000570664,p.T98R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000570664	nonsynonymous SNV	exon3	c.C293G	p.T98R	LIPDSADTTATPTHCAYDRLPMA	LIPDSADTTATPRHCAYDRLPMA	10.0	8.0	unscreened	-	4359_16:3707324-3707324 C>G_LIPDSADTTATPRHCAYDRLPMA
6:88211028-88211028 G>-	1.0	4359	COLON	-	-	-	-	SLC35A1	uc010kbw.3,p.G40fs	protein_coding, processed_transcript	uc010kbw.3	frameshift deletion	exon4	c.118delG	p.G40fs	CTVETSPSYKSGGVYFEKVLKSSDTS	CTVETSPSYKSGEYILKKF	9.0	2.0	-	-	4359_6:88211028-88211028 G>-_CTVETSPSYKSGEYILKKF
19:16689193-16689193 C>A	1.0	4359	COLON	-	-	-	-	MED26	uc002nen.1,p.V34F|ENST00000600060,p.V34F|ENST00000263390,p.V34F|NM_004831,p.V34F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002nen.1	nonsynonymous SNV	exon2	c.G100T	p.V34F	QSNIRNMVAVLEVISSLEKYPITKE	QSNIRNMVAVLEFISSLEKYPITKE	9.0	9.0	-	-	4359_19:16689193-16689193 C>A_QSNIRNMVAVLEFISSLEKYPITKE
19:16689193-16689193 C>A	1.0	4359	COLON	-	-	-	-	MED26	ENST00000409035,p.V42F	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000409035	nonsynonymous SNV	exon3	c.G124T	p.V42F	TTVIRNMVAVLEVISSLEKYPITKE	TTVIRNMVAVLEFISSLEKYPITKE	9.0	9.0	unscreened	-	4359_19:16689193-16689193 C>A_TTVIRNMVAVLEFISSLEKYPITKE
19:16689193-16689193 C>A	1.0	4359	COLON	-	-	-	-	MED26	ENST00000598608,p.V156F	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000598608	nonsynonymous SNV	exon2	c.G466T	p.V156F	RPEIRNMVAVLEVISSLEKYPITKE	RPEIRNMVAVLEFISSLEKYPITKE	9.0	9.0	unscreened	-	4359_19:16689193-16689193 C>A_RPEIRNMVAVLEFISSLEKYPITKE
16:3707324-3707324 C>G	1.0	4359	COLON	-	-	-	-	DNASE1	ENST00000576792,p.T25R|ENST00000414110,p.T112R|uc002cvr.3,p.T229R|ENST00000407479,p.T229R|ENST00000246949,p.T229R|NM_005223,p.T229R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cvr.3	nonsynonymous SNV	exon7	c.C686G	p.T229R	LIPDSADTTATPTHCAYDRIVVAGM	LIPDSADTTATPRHCAYDRIVVAGM	10.0	8.0	-	-	4359_16:3707324-3707324 C>G_LIPDSADTTATPRHCAYDRIVVAGM
17:7403965-7403979 TGATGAACCTCCTGA>-	1.0	4359	COLON	-	-	-	-	POLR2A	uc002ghf.4,p.560_565del|NM_000937,p.560_565del|ENST00000322644,p.560_565del	retained_intron, protein_coding	uc002ghf.4	nonframeshift deletion	exon11	c.1679_1693del	p.560_565del	FTKRDVFLERGEVMNLLMFLSTWDGK	FTKRDVFLERGEVFLSTWDGKVPQP	10.0	3.0	-	-	4359_17:7403965-7403979 TGATGAACCTCCTGA>-_FTKRDVFLERGEVFLSTWDGKVPQP
6:157522292-157522293 TA>-	1.0	4359	COLON	-	-	-	1	ARID1B	ENST00000367148,p.Y1562fs|ENST00000275248,p.Y1504fs|uc003qqo.3,p.Y1522fs|ENST00000350026,p.Y1509fs|NM_017519,p.Y1509fs|ENST00000414678,p.Y1031fs|uc003qqp.3,p.Y1509fs|uc003qqn.3,p.Y1562fs|NM_020732,p.Y1522fs|ENST00000346085,p.Y1522fs	retained_intron, protein_coding, processed_transcript	uc003qqp.3	frameshift deletion	exon17	c.4525_4526del	p.Y1509fs	SQWPSHVSQRQPYMSSSASMQPITRP	SQWPSHVSQRQPYVVLSLHAAHHTPTTAVLPDATVTAKSHLQGAQPSVLPALPGEPHVSKQVSFSAVYEDAEGHAHGPHIPGHRATTPTTPNQKGDHLSSWLSRSITTSLETKAKDYLQRYRYS	9.0	8.0	-	-	4359_6:157522292-157522293 TA>-_SQWPSHVSQRQPYVVLSLHAAHHTPTTAVLPDATVTAKSHLQGAQPSVLPALPGEPHVSKQVSFSAVYEDAEGHAHGPHIPGHRATTPTTPNQKGDHLSSWLSRSITTSLETKAKDYLQRYRYS
11:17097026-17097026 C>T	1.0	4359	COLON	-	-	ID=COSM925425;OCCURENCE=1(endometrium)	-	RPS13	ENST00000228140,p.R99Q	retained_intron, protein_coding, processed_transcript	ENST00000228140	nonsynonymous SNV	exon4	c.G296A	p.R99Q	DLYHLIKKAVAVRKHLERNRKRAGF	DLYHLIKKAVAVQKHLERNRKRAGF	10.0	6.0	unscreened	-	4359_11:17097026-17097026 C>T_DLYHLIKKAVAVQKHLERNRKRAGF
11:17097026-17097026 C>T	1.0	4359	COLON	-	-	ID=COSM925425;OCCURENCE=1(endometrium)	-	RPS13	ENST00000525634,p.R99Q|NM_001017,p.R99Q|uc001mmp.3,p.R99Q	retained_intron, protein_coding, processed_transcript	uc001mmp.3	nonsynonymous SNV	exon4	c.G296A	p.R99Q	DLYHLIKKAVAVRKHLERNRKDKDA	DLYHLIKKAVAVQKHLERNRKDKDA	10.0	6.0	CD8	-	4359_11:17097026-17097026 C>T_DLYHLIKKAVAVQKHLERNRKDKDA
6:152651119-152651119 T>A	0.0	4359	COLON	-	-	-	-	SYNE1	NM_182961,p.R4901W|ENST00000423061,p.R4830W|uc003qot.4,p.R4830W|ENST00000341594,p.R4648W|ENST00000448038,p.R4830W|NM_033071,p.R4830W|uc010kiz.4,p.R656W|uc003qou.4,p.R4901W|ENST00000367255,p.R4901W|ENST00000265368,p.R4901W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kiz.4	nonsynonymous SNV	exon2	c.A1966T	p.R656W	FQTEMSRSLDWLRRVKAELSGPVYL	FQTEMSRSLDWLWRVKAELSGPVYL	7.0	2.0	unscreened	-	4359_6:152651119-152651119 T>A_FQTEMSRSLDWLWRVKAELSGPVYL
1:167973986-167973989 AGGC>-	1.0	4359	COLON	-	-	-	-	DCAF6	uc001gex.3,p.R445fs|ENST00000432587,p.R414fs|ENST00000367840,p.R445fs|NM_001198957,p.R414fs|uc010plk.2,p.R414fs|NM_001198956,p.R445fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010plk.2	frameshift deletion	exon9	c.1240_1243del	p.R414fs	STPLLSSPDSEQRQSVEASGHHTHH	STPLLSSPDSEQSLLRHLDTTHIISLNF	9.0	2.0	-	Additional variant within 36 nucleotides, 1:167973993-167973993 C>T, residue 14 Q>L PR	4359_1:167973986-167973989 AGGC>-_STPLLSSPDSEQSLLRHLDTTHIISLNF
17:45221287-45221287 T>G	1.0	4359	COLON	-	-	-	-	CDC27	uc002ile.4,p.S384R|NM_001293091,p.S317R|NM_001293089,p.S378R|NM_001114091,p.S384R|uc010wkp.2,p.S317R|uc002ilf.4,p.S378R|ENST00000531206,p.S384R|ENST00000446365,p.S317R|uc002ild.4,p.S378R|ENST00000066544,p.S378R|NM_001256,p.S378R|ENST00000527547,p.S378R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wkp.2	nonsynonymous SNV	exon9	c.A949C	p.S317R	TITSPPNALPRRSSRLFTSDSSTTK	TITSPPNALPRRRSRLFTSDSSTTK	9.0	2.0	-	-	4359_17:45221287-45221287 T>G_TITSPPNALPRRRSRLFTSDSSTTK
1:167973986-167973989 AGGC>-	1.0	4359	COLON	-	-	-	-	DCAF6	uc001gev.3,p.R445fs|NM_018442,p.R445fs|ENST00000367843,p.R445fs|uc001gey.3,p.R298fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001gey.3	frameshift deletion	exon8	c.892_895del	p.R298fs	STPLLSSPDSEQRQSVEASGHHTHH	STPLLSSPDSEQSLLRHLDTTHIISLILLLLWLTNSSDPCHLTSNRITIMKS	9.0	2.0	-	Additional variant within 36 nucleotides, 1:167973993-167973993 C>T, residue 14 Q>L PR	4359_1:167973986-167973989 AGGC>-_STPLLSSPDSEQSLLRHLDTTHIISLILLLLWLTNSSDPCHLTSNRITIMKS
16:89347752-89347752 G>A	1.0	4359	COLON	0.0014	-	-	-	ANKRD11	uc002fmx.2,p.A1733V|uc002fmy.2,p.A1733V|NM_001256183,p.A1733V|NM_013275,p.A1733V|NM_001256182,p.A1733V|ENST00000378330,p.A1733V|uc002fnc.2,p.A1733V|ENST00000301030,p.A1733V|uc002fnb.1,p.A1690V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc002fnc.2	nonsynonymous SNV	exon9	c.C5198T	p.A1733V	TPRTPSCSADDYADLVFDCADSQHS	TPRTPSCSADDYVDLVFDCADSQHS	8.0	8.0	-	-	4359_16:89347752-89347752 G>A_TPRTPSCSADDYVDLVFDCADSQHS
1:167973986-167973989 AGGC>-	1.0	4359	COLON	-	-	-	-	DCAF6	ENST00000470721,p.R445fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000470721	frameshift deletion	exon10	c.1333_1336del	p.R445fs	STPLLSSPDSEQRQSVEASGHHTHHQ	STPLLSSPDSEQSLLRHLDTTHIISLVP	9.0	2.0	unscreened	-	4359_1:167973986-167973989 AGGC>-_STPLLSSPDSEQSLLRHLDTTHIISLVP
1:167973986-167973989 AGGC>-	1.0	4359	COLON	-	-	-	-	DCAF6	uc001gew.3,p.R445fs|ENST00000312263,p.R445fs|NM_001017977,p.R445fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001gew.3	frameshift deletion	exon10	c.1333_1336del	p.R445fs	STPLLSSPDSEQRQSVEASGHHTHH	STPLLSSPDSEQSLLRHLDTTHIISLITIMKS	9.0	2.0	-	Additional variant within 36 nucleotides, 1:167973993-167973993 C>T, residue 14 Q>L PR	4359_1:167973986-167973989 AGGC>-_STPLLSSPDSEQSLLRHLDTTHIISLITIMKS
6:26043594-26043594 C>T	1.0	4359	COLON	-	-	-	-	HIST1H2BB	ENST00000357905,p.A98T|NM_021062,p.A98T|uc003nfu.3,p.A98T	protein_coding	uc003nfu.3	nonsynonymous SNV	exon1	c.G292A	p.A98T	KRSTITSREIQTAVRLLLPGELAKH	KRSTITSREIQTTVRLLLPGELAKH	10.0	5.0	-	-	4359_6:26043594-26043594 C>T_KRSTITSREIQTTVRLLLPGELAKH
X:153051870-153051870 T>G	1.0	4359	COLON	-	-	-	-	IDH3G	ENST00000370092,p.K320T|NM_004135,p.K320T|NM_174869,p.K320T|ENST00000370093,p.K320T|uc004fip.4,p.K320T|ENST00000427365,p.K262T|uc004fiu.3,p.K96T|uc004fit.2,p.K320T|ENST00000217901,p.K320T|uc004fiq.4,p.K320T	protein_coding, processed_transcript	uc004fiu.3	nonsynonymous SNV	exon4	c.A287C	p.K96T	TATRNTGKSIANKNIANPTATLLAS	TATRNTGKSIANTNIANPTATLLAS	9.0	7.0	-	-	4359_X:153051870-153051870 T>G_TATRNTGKSIANTNIANPTATLLAS
2:206628575-206628575 A>G	0.0	4359	COLON	-	-	-	-	NRP2	uc002vaw.3,p.K741R|ENST00000412873,p.K741R|NM_201267,p.K741R|ENST00000272849,p.K741R|uc002vax.3,p.K741R|uc002vau.3,p.K741R|NM_018534,p.K741R|NM_201266,p.K741R|NM_201279,p.K741R|ENST00000357785,p.K741R|uc002vay.3,p.K741R|uc002vav.3,p.K741R|ENST00000540841,p.K741R|ENST00000357118,p.K741R|ENST00000540178,p.K741R|NM_003872,p.K741R|ENST00000360409,p.K741R	retained_intron, protein_coding, processed_transcript	uc002vay.3	nonsynonymous SNV	exon13	c.A2222G	p.K741R	ALQVVREASQESKLLWVIREDQGGE	ALQVVREASQESRLLWVIREDQGGE	8.0	6.0	-	-	4359_2:206628575-206628575 A>G_ALQVVREASQESRLLWVIREDQGGE
9:106880480-106880480 T>A	1.0	4359	COLON	-	-	-	-	SMC2	ENST00000286398,p.L607H|NM_001265602,p.L607H|uc004bbu.1,p.L607H|uc004bbw.3,p.L607H|uc004bbx.3,p.L607H|NM_001042551,p.L607H|NM_006444,p.L607H|ENST00000303219,p.L607H|uc011lvl.2,p.L607H|ENST00000374793,p.L607H|ENST00000374787,p.L607H|uc004bbv.3,p.L607H|NM_001042550,p.L607H	protein_coding, nonsense_mediated_decay	uc011lvl.2	nonsynonymous SNV	exon15	c.T1820A	p.L607H	QNLVGPDNVHVALSLVEYKPELQKA	QNLVGPDNVHVAHSLVEYKPELQKA	8.0	5.0	-	-	4359_9:106880480-106880480 T>A_QNLVGPDNVHVAHSLVEYKPELQKA
22:17979736-17979736 C>T	1.0	4359	COLON	-	-	ID=COSM3701704,COSM3701705,COSM3701703;OCCURENCE=1(liver)	-	CECR2	uc002zml.2,p.R44W|ENST00000342247,p.R165W|NM_001290046,p.R44W|uc010gqv.1,p.R44W|ENST00000262608,p.R166W|uc002zmm.1,p.R44W|ENST00000400585,p.R44W|ENST00000400573,p.R185W	protein_coding, processed_transcript, nonsense_mediated_decay	uc010gqv.1	nonsynonymous SNV	exon5	c.C130T	p.R44W	GKTGKRRGRPPKRKKLQEEILLSEK	GKTGKRRGRPPKWKKLQEEILLSEK	5.0	9.0	-	-	4359_22:17979736-17979736 C>T_GKTGKRRGRPPKWKKLQEEILLSEK
5:56177611-56177613 GAG>-	1.0	4359	COLON	-	-	-	1	MAP3K1	NM_005921,p.862_862del|ENST00000399503,p.862_862del|uc003jqw.4,p.862_862del	retained_intron, protein_coding	uc003jqw.4	nonframeshift deletion	exon14	c.2584_2586del	p.862_862del	TRMRRRLMAIADEVEIAEAIQLGVED	TRMRRRLMAIADVEIAEAIQLGVED	7.0	7.0	-	-	4359_5:56177611-56177613 GAG>-_TRMRRRLMAIADVEIAEAIQLGVED
13:28794425-28794425 A>C	1.0	4359	COLON	-	-	-	-	PAN3	uc001urx.3,p.S104R|NM_175854,p.S304R|uc010tdo.1,p.S304R|ENST00000380958,p.S304R|ENST00000399613,p.S104R|uc001urz.3,p.S304R	retained_intron, protein_coding, processed_transcript	uc010tdo.1	nonsynonymous SNV	exon6	c.A910C	p.S304R	EFIPKGGSTSRLSNVSQSNMSAFSQ	EFIPKGGSTSRLRNVSQSNMSAFSQ	9.0	4.0	-	-	4359_13:28794425-28794425 A>C_EFIPKGGSTSRLRNVSQSNMSAFSQ
20:3782685-3782685 G>A	1.0	4359	COLON	-	-	-	-	CDC25B	uc010zqm.2,p.V255M|uc021waa.1,p.V193M|uc002wjq.3,p.V146M|ENST00000344256,p.V282M|NM_021873,p.V346M|ENST00000245960,p.V346M|uc010zqk.2,p.V282M|uc002wjp.3,p.V305M|uc002wjn.3,p.V346M|NM_001287524,p.V154M|ENST00000439880,p.V332M|NM_001287519,p.V234M|NM_001287517,p.V268M|NM_001287518,p.V255M|NM_001287516,p.V282M|ENST00000379598,p.V255M|uc002wjo.3,p.V332M|ENST00000340833,p.V305M|uc002wjm.3,p.V234M|NM_021872,p.V305M|uc010zql.2,p.V268M|NM_001287520,p.V234M|NM_001287522,p.V193M|NM_004358,p.V332M|uc002wjl.3,p.V234M	protein_coding, processed_transcript	uc021waa.1	nonsynonymous SNV	exon9	c.G577A	p.V193M	KRLERPQDRDTPVQNKRRRSVTPPE	KRLERPQDRDTPMQNKRRRSVTPPE	8.0	8.0	-	-	4359_20:3782685-3782685 G>A_KRLERPQDRDTPMQNKRRRSVTPPE
11:2604767-2604767 C>T	1.0	4359	COLON	-	-	-	-	KCNQ1	uc001lwo.4,p.L215F|ENST00000155840,p.L342F|NM_181798,p.L215F|NM_000218,p.L342F|uc009ydp.2,p.L126F|uc001lwn.3,p.L342F|ENST00000335475,p.L215F	protein_coding, processed_transcript	uc009ydp.2	nonsynonymous SNV	exon5	c.C376T	p.L126F	SCFSVFAISFFALPAGILGSGFALK	SCFSVFAISFFAFPAGILGSGFALK	9.0	1.0	-	-	4359_11:2604767-2604767 C>T_SCFSVFAISFFAFPAGILGSGFALK
8:120596231-120596231 C>T	1.0	4359	COLON	-	-	-	-	ENPP2	uc003yot.2,p.G476R|NM_006209,p.G528R|ENST00000522167,p.G115R|NM_001040092,p.G476R|uc003yor.2,p.G115R|uc003yos.2,p.G528R|ENST00000522826,p.G476R|ENST00000427067,p.G472R|NM_001130863,p.G476R|uc010mdd.2,p.G476R|ENST00000259486,p.G528R|ENST00000075322,p.G476R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mdd.2	nonsynonymous SNV	exon16	c.G1426A	p.G476R	KPSGKCFFQGDHGFDNKVNSMQTVF	KPSGKCFFQGDHRFDNKVNSMQTVF	7.0	8.0	-	-	4359_8:120596231-120596231 C>T_KPSGKCFFQGDHRFDNKVNSMQTVF
6:152651118-152651118 C>A	0.0	4359	COLON	-	-	-	-	SYNE1	uc003qot.4,p.R4830M|ENST00000265368,p.R4901M|ENST00000367255,p.R4901M|ENST00000423061,p.R4830M|NM_033071,p.R4830M|ENST00000341594,p.R4648M|uc003qou.4,p.R4901M|uc010kiz.4,p.R656M|ENST00000448038,p.R4830M|NM_182961,p.R4901M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kiz.4	nonsynonymous SNV	exon2	c.G1967T	p.R656M	FQTEMSRSLDWLRRVKAELSGPVYL	FQTEMSRSLDWLMRVKAELSGPVYL	7.0	2.0	unscreened	-	4359_6:152651118-152651118 C>A_FQTEMSRSLDWLMRVKAELSGPVYL
10:104636789-104636789 T>A	1.0	4359	COLON	-	-	-	-	AS3MT	ENST00000369880,p.W203R|uc001kwk.3,p.W203R|NM_020682,p.W203R|uc001kwj.3,p.W205R|uc009xxh.3,p.W203R	protein_coding	uc009xxh.3	nonsynonymous SNV	exon7	c.T607A	p.W203R	ELPEEIRTHKVLWGECLGGALYWKE	ELPEEIRTHKVLRGECLGGALYWKE	6.0	5.0	-	-	4359_10:104636789-104636789 T>A_ELPEEIRTHKVLRGECLGGALYWKE
21:45877044-45877044 C>T	1.0	4359	COLON	-	-	-	-	LRRC3	uc002zfa.3,p.H173Y|NM_030891,p.H173Y|uc021wjs.1,p.H173Y|ENST00000291592,p.H173Y	protein_coding	uc021wjs.1	nonsynonymous SNV	exon1	c.C517T	p.H173Y	KLDPDSVDEIACHTSVQEEFVGKPL	KLDPDSVDEIACYTSVQEEFVGKPL	2.0	9.0	-	-	4359_21:45877044-45877044 C>T_KLDPDSVDEIACYTSVQEEFVGKPL
16:16103664-16103664 G>T	0.0	4359	COLON	-	-	-	-	ABCC1	uc010bvi.3,p.W86L|ENST00000351154,p.W86L|ENST00000346370,p.W86L|ENST00000399410,p.W86L|ENST00000399408,p.W86L|ENST00000349029,p.W86L|ENST00000345148,p.W86L|NM_004996,p.W86L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bvi.3	nonsynonymous SNV	exon3	c.G257T	p.W86L	KTALGFLLWIVCWADLFYSFWERSR	KTALGFLLWIVCLADLFYSFWERSR	8.0	3.0	-	-	4359_16:16103664-16103664 G>T_KTALGFLLWIVCLADLFYSFWERSR
8:38275777-38275777 C>T	1.0	4359	COLON	-	-	-	1	FGFR1	NM_001174067,p.E498K|NM_001174066,p.E378K|NM_015850,p.E465K|ENST00000356207,p.E378K|ENST00000532791,p.E465K|uc011lbu.2,p.E498K|uc022aua.1,p.E467K|uc003xlp.3,p.E465K|NM_001174063,p.E465K|ENST00000397108,p.E465K|NM_001174064,p.E457K|ENST00000447712,p.E467K|NM_023105,p.E378K|uc010lwk.3,p.E457K|ENST00000397103,p.E378K|uc011lbv.2,p.E465K|NM_023110,p.E467K|uc022auc.1,p.E378K|ENST00000326324,p.E376K|uc022aub.1,p.E465K|ENST00000425967,p.E498K|NM_023106,p.E376K|ENST00000397113,p.E465K|ENST00000397091,p.E465K|ENST00000335922,p.E457K|uc022aud.1,p.E376K|ENST00000341462,p.E467K|uc011lbw.2,p.E378K|NM_001174065,p.E465K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022aud.1	nonsynonymous SNV	exon9	c.G1126A	p.E376K	PMLAGVSEYELPEDPRWELPRDRLV	PMLAGVSEYELPKDPRWELPRDRLV	8.0	10.0	-	-	4359_8:38275777-38275777 C>T_PMLAGVSEYELPKDPRWELPRDRLV
22:41652052-41652052 T>C	1.0	4359	COLON	-	-	-	-	RANGAP1	uc003azt.3,p.N349S|ENST00000455915,p.N349S|ENST00000356244,p.N349S|NM_001278651,p.N349S|uc003azu.3,p.N349S|ENST00000405486,p.N349S|uc003azs.3,p.N349S|uc011aoz.2,p.N294S|NM_002883,p.N349S|ENST00000407260,p.N294S	protein_coding	uc011aoz.2	nonsynonymous SNV	exon9	c.A881G	p.N294S	GCEQLQEVLEGFNMAKVLASLSDDE	GCEQLQEVLEGFSMAKVLASLSDDE	7.0	4.0	-	-	4359_22:41652052-41652052 T>C_GCEQLQEVLEGFSMAKVLASLSDDE
17:7578403-7578403 C>A	1.0	4359	COLON	-	-	ID=COSM117395,COSM117398,COSM117396,COSM3378352,COSM1640850,COSM117397,COSM10645;OCCURENCE=2(prostate),19(large_intestine),2(genital_tract),1(adrenal_gland),7(urinary_tract),5(liver),4(pancreas),8(breast),1(skin),6(ovary),1(haematopoietic_and_lymphoid_tissue),15(lung),20(oesophagus),21(upper_aerodigestive_tract),3(bone),3(central_nervous_system),10(stomach)	1	TP53	uc031qyq.1,p.C137F|NM_001276697,p.C17F|ENST00000514944,p.C83F|uc002gig.1,p.C176F|NM_001126115,p.C44F|NM_001276698,p.C17F|NM_001276699,p.C17F|ENST00000413465,p.C176F|NM_001126116,p.C44F|uc010cng.2,p.C17F|NM_001276760,p.C137F|NM_001276696,p.C137F|uc002gij.3,p.C137F|NM_001126112,p.C176F|ENST00000420246,p.C176F|ENST00000509690,p.C44F|NM_001276761,p.C137F|uc002gio.3,p.C44F|uc010cnf.2,p.C17F|NM_001126117,p.C44F|ENST00000455263,p.C176F|ENST00000269305,p.C176F|NM_001126114,p.C176F|NM_001276695,p.C137F|uc002gii.2,p.C17F|NM_001126113,p.C176F|NM_001126118,p.C137F|uc010vug.3,p.C137F|ENST00000359597,p.C176F|uc002gih.3,p.C176F|ENST00000445888,p.C176F|NM_000546,p.C176F|uc002gin.3,p.C83F	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon4	c.G410T	p.C137F	KQSQHMTEVVRRCPHHERCSDSDGL	KQSQHMTEVVRRFPHHERCSDSDGL	10.0	10.0	-	-	4359_17:7578403-7578403 C>A_KQSQHMTEVVRRFPHHERCSDSDGL
5:140075115-140075115 C>T	0.0	4359	COLON	-	-	-	-	HARS2	ENST00000509299,p.A147V|ENST00000230771,p.A141V|ENST00000435019,p.A101V|NM_001278731,p.A116V|uc010jfv.1,p.A71V|uc003lgx.3,p.A141V|NM_012208,p.A141V|uc011czr.2,p.A116V|ENST00000508522,p.A116V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011czr.2	nonsynonymous SNV	exon4	c.C347T	p.A116V	RYDLTVPFARYLAMNKVKKMKRYHV	RYDLTVPFARYLVMNKVKKMKRYHV	9.0	5.0	-	-	4359_5:140075115-140075115 C>T_RYDLTVPFARYLVMNKVKKMKRYHV
9:139233112-139233112 C>A	1.0	4359	COLON	-	-	-	-	GPSM1	uc004chd.2,p.R307S|ENST00000392945,p.R307S|uc004chc.3,p.R307S|ENST00000440944,p.R307S|NM_001145638,p.R307S|ENST00000354753,p.R284S|NM_015597,p.R307S	protein_coding	uc004chd.2	nonsynonymous SNV	exon7	c.C919A	p.R307S	LGNTYTLLQDYERAAEYHLRHLLIA	LGNTYTLLQDYESAAEYHLRHLLIA	5.0	9.0	-	-	4359_9:139233112-139233112 C>A_LGNTYTLLQDYESAAEYHLRHLLIA
10:126716130-126716130 C>T	0.0	4359	COLON	-	-	-	-	CTBP2	NM_022802,p.E67K|uc001lie.4,p.E67K|ENST00000309035,p.E67K	retained_intron, protein_coding, processed_transcript	uc001lie.4	nonsynonymous SNV	exon1	c.G199A	p.E67K	HRPQDAALPVAAEPYLYREAVYNSV	HRPQDAALPVAAKPYLYREAVYNSV	8.0	9.0	-	-	4359_10:126716130-126716130 C>T_HRPQDAALPVAAKPYLYREAVYNSV
2:21231297-21231297 A>G	1.0	4359	COLON	-	-	-	-	APOB	uc002red.3,p.S2815P|NM_000384,p.S2815P|ENST00000233242,p.S2815P	protein_coding	uc002red.3	nonsynonymous SNV	exon26	c.T8443C	p.S2815P	VLNFDFQANAQLSNPKINPLALKES	VLNFDFQANAQLPNPKINPLALKES	7.0	1.0	-	-	4359_2:21231297-21231297 A>G_VLNFDFQANAQLPNPKINPLALKES
20:8737799-8737799 A>G	1.0	4359	COLON	-	-	-	-	PLCB1	ENST00000378641,p.Q877R|ENST00000338037,p.Q877R|NM_015192,p.Q877R|NM_182734,p.Q877R|uc002wnb.4,p.Q877R|uc010zrb.1,p.Q776R|uc002wnd.1,p.Q454R|ENST00000378637,p.Q877R|uc002wna.4,p.Q877R|uc002wnc.1,p.Q776R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zrb.1	nonsynonymous SNV	exon24	c.A2327G	p.Q776R	NHTTTLTPKPPSQALHSQPAPGSVK	NHTTTLTPKPPSRALHSQPAPGSVK	9.0	2.0	-	-	4359_20:8737799-8737799 A>G_NHTTTLTPKPPSRALHSQPAPGSVK
2:130948175-130948175 G>C	1.0	4359	COLON	-	-	-	-	MZT2B	ENST00000455239,p.E92Q	retained_intron, protein_coding, processed_transcript	ENST00000455239	nonsynonymous SNV	exon2	c.G274C	p.E92Q	RYQAAQGGRAWEEPYTGQHLGWGRD	RYQAAQGGRAWEQPYTGQHLGWGRD	10.0	8.0	unscreened	-	4359_2:130948175-130948175 G>C_RYQAAQGGRAWEQPYTGQHLGWGRD
19:7975916-7975916 G>A	1.0	4359	COLON	-	-	ID=COSM1165620;OCCURENCE=3(large_intestine)	-	MAP2K7	ENST00000397983,p.D259N|ENST00000545011,p.D285N|NM_001297556,p.D243N|NM_001297555,p.D259N|ENST00000397981,p.D243N|uc002mit.3,p.D243N|uc010dvv.3,p.D118N|NM_145185,p.D243N|ENST00000397979,p.D243N|uc010xkb.2,p.D243N|uc002miv.2,p.D243N	retained_intron, protein_coding	uc010xkb.2	nonsynonymous SNV	exon7	c.G727A	p.D243N	YYLKEKHGVIHRDVKPSNILLDERG	YYLKEKHGVIHRNVKPSNILLDERG	7.0	9.0	-	-	4359_19:7975916-7975916 G>A_YYLKEKHGVIHRNVKPSNILLDERG
20:61881385-61881385 A>T	0.0	4359	COLON	-	-	-	-	NKAIN4	ENST00000370316,p.Y32N|NM_152864,p.Y32N|uc002yek.3,p.Y32N	retained_intron, protein_coding, processed_transcript	uc002yek.3	nonsynonymous SNV	exon2	c.T94A	p.Y32N	AALERQVFDFLGYQWAPILANFVHI	AALERQVFDFLGNQWAPILANFVHI	6.0	2.0	-	-	4359_20:61881385-61881385 A>T_AALERQVFDFLGNQWAPILANFVHI
3:78719256-78719256 C>T	1.0	4359	COLON	-	-	-	-	ROBO1	uc003dqe.2,p.R513Q|uc003dqf.1,p.R192Q|ENST00000495273,p.R477Q|NM_002941,p.R513Q|ENST00000464233,p.R513Q|uc011bgl.1,p.R85Q|ENST00000495961,p.R46Q|NM_133631,p.R477Q|uc003dqc.2,p.R477Q|uc003dqd.2,p.R477Q|ENST00000436010,p.R474Q|uc003dqb.2,p.R474Q|ENST00000467549,p.R477Q|NM_001145845,p.R477Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bgl.1	nonsynonymous SNV	exon1	c.G254A	p.R85Q	RIKQLENGVLQIRYAKLGDTGRYTC	RIKQLENGVLQIQYAKLGDTGRYTC	9.0	10.0	-	-	4359_3:78719256-78719256 C>T_RIKQLENGVLQIQYAKLGDTGRYTC
19:21300625-21300625 A>G	1.0	4359	COLON	-	-	-	-	ZNF714	ENST00000600435,p.I385M|uc002npl.3,p.I231M|ENST00000596143,p.I385M	protein_coding, processed_transcript, nonsense_mediated_decay	uc002npl.3	nonsynonymous SNV	exon5	c.A693G	p.I231M	CGKAFNHSSKLTIHKIIHTGEKPYK	CGKAFNHSSKLTMHKIIHTGEKPYK	10.0	6.0	-	-	4359_19:21300625-21300625 A>G_CGKAFNHSSKLTMHKIIHTGEKPYK
11:233048-233048 C>T	1.0	4359	COLON	-	-	-	-	SIRT3	ENST00000524564,p.R150Q|uc010qvp.2,p.R214Q|uc010qvq.2,p.R72Q|uc010qvo.2,p.R214Q|ENST00000525319,p.R133Q|NM_012239,p.R214Q|NM_001017524,p.R72Q|uc010qvn.2,p.R133Q|uc001loj.4,p.R72Q|ENST00000528469,p.R72Q|ENST00000529382,p.R72Q|uc001lok.4,p.R214Q|ENST00000382743,p.R214Q|ENST00000532956,p.R214Q|uc010qvm.2,p.R150Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qvq.2	nonsynonymous SNV	exon3	c.G215A	p.R72Q	GNYKPNVTHYFLRLLHDKGLLLRLY	GNYKPNVTHYFLQLLHDKGLLLRLY	6.0	10.0	-	-	4359_11:233048-233048 C>T_GNYKPNVTHYFLQLLHDKGLLLRLY
1:167973993-167973993 C>T	1.0	4359	COLON	-	-	-	-	DCAF6	uc001gew.3,p.S447F|uc001gev.3,p.S447F|ENST00000432587,p.S416F|uc010plk.2,p.S416F|ENST00000367840,p.S447F|NM_001017977,p.S447F|ENST00000312263,p.S447F|NM_001198956,p.S447F|ENST00000470721,p.S447F|ENST00000367843,p.S447F|NM_001198957,p.S416F|uc001gey.3,p.S300F|uc001gex.3,p.S447F|NM_018442,p.S447F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010plk.2	nonsynonymous SNV	exon9	c.C1247T	p.S416F	PLLSSPDSEQRQSVEASGHHTHHQS	PLLSSPDSEQRQFVEASGHHTHHQS	9.0	3.0	unscreened	-	4359_1:167973993-167973993 C>T_PLLSSPDSEQRQFVEASGHHTHHQS
17:42501751-42501751 T>G	1.0	4359	COLON	-	-	-	-	GPATCH8	uc010wiz.2,p.N75T|ENST00000591680,p.N153T|uc002igw.2,p.N153T|ENST00000434000,p.N75T|NM_001002909,p.N153T|ENST00000585614,p.N128T|uc002igv.2,p.N75T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wiz.2	nonsynonymous SNV	exon7	c.A224C	p.N75T	CDKQYQKHQEFDNHINSYDHAHKQR	CDKQYQKHQEFDTHINSYDHAHKQR	9.0	6.0	-	-	4359_17:42501751-42501751 T>G_CDKQYQKHQEFDTHINSYDHAHKQR
8:42841937-42841937 A>T	1.0	4359	COLON	-	-	-	1	HOOK3	uc010lxq.1,p.R511W|uc003xpr.3,p.R511W|ENST00000307602,p.R511W|NM_032410,p.R511W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lxq.1	nonsynonymous SNV	exon15	c.A1531T	p.R511W	ANLRKNELETENRLVNQRLLEVQSQ	ANLRKNELETENWLVNQRLLEVQSQ	10.0	6.0	-	-	4359_8:42841937-42841937 A>T_ANLRKNELETENWLVNQRLLEVQSQ
5:465232-465232 A>G	1.0	4359	COLON	-	-	-	-	EXOC3	ENST00000315013,p.T595A|NM_007277,p.T595A|ENST00000512944,p.T595A|uc003jba.3,p.T595A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jba.3	nonsynonymous SNV	exon11	c.A1783G	p.T595A	FAKIKKPYKKRMTAEAHRRVVVEYL	FAKIKKPYKKRMAAEAHRRVVVEYL	8.0	3.0	-	-	4359_5:465232-465232 A>G_FAKIKKPYKKRMAAEAHRRVVVEYL
6:85448257-85448257 G>A	0.0	4359	COLON	-	-	ID=COSM268202;OCCURENCE=1(prostate),1(large_intestine)	-	TBX18	uc003pkl.2,p.R353W|ENST00000369663,p.R353W|ENST00000606784,p.R195W|uc010kbq.2,p.R195W|NM_001080508,p.R353W	protein_coding	uc010kbq.2	nonsynonymous SNV	exon7	c.C583T	p.R195W	LVESYAFWRPSLRTLTFEDIPGIPK	LVESYAFWRPSLWTLTFEDIPGIPK	1.0	10.0	-	-	4359_6:85448257-85448257 G>A_LVESYAFWRPSLWTLTFEDIPGIPK
4:187532548-187532548 G>C	1.0	4359	COLON	-	-	-	1	FAT1	ENST00000441802,p.S3282C|uc003izf.3,p.S3282C|NM_005245,p.S3282C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003izf.3	nonsynonymous SNV	exon14	c.C9845G	p.S3282C	ISGNEHGKFSIDSKTGAVFIIENLD	ISGNEHGKFSIDCKTGAVFIIENLD	10.0	7.0	-	-	4359_4:187532548-187532548 G>C_ISGNEHGKFSIDCKTGAVFIIENLD
16:67860370-67860370 C>T	0.0	4359	COLON	-	-	-	-	TSNAXIP1	uc010vkb.2,p.R367W|uc002euk.3,p.R115W|NM_001288994,p.R90W|ENST00000431934,p.R253W|uc002euj.3,p.R382W|uc002euf.4,p.R115W|NM_001288993,p.R90W|uc010vka.2,p.R436W|uc002eui.4,p.R90W|NM_001288992,p.R90W|uc010vjz.1,p.R259W|NM_001288990,p.R436W|ENST00000561639,p.R436W|uc002euh.4,p.R90W|ENST00000388833,p.R382W|NM_001288991,p.R367W|ENST00000415766,p.R367W|NM_018430,p.R382W	retained_intron, protein_coding, nonsense_mediated_decay	uc010vkb.2	nonsynonymous SNV	exon9	c.C1099T	p.R367W	GLGYGEAIPAFLRFDGLVENKKPSK	GLGYGEAIPAFLWFDGLVENKKPSK	5.0	6.0	-	-	4359_16:67860370-67860370 C>T_GLGYGEAIPAFLWFDGLVENKKPSK
20:44638610-44638610 G>A	0.0	4359	COLON	-	-	-	-	MMP9	uc002xqz.3,p.E82K|NM_004994,p.E82K|ENST00000372330,p.E82K	protein_coding	uc002xqz.3	nonsynonymous SNV	exon2	c.G244A	p.E82K	ALLLLQKQLSLPETGELDSATLKAM	ALLLLQKQLSLPKTGELDSATLKAM	9.0	4.0	-	-	4359_20:44638610-44638610 G>A_ALLLLQKQLSLPKTGELDSATLKAM
9:8341111-8341111 G>C	0.0	4359	COLON	-	-	-	-	PTPRD	uc003zkr.3,p.A1286G|ENST00000397606,p.A1295G|NM_130393,p.A1286G|ENST00000355233,p.A1296G|NM_130391,p.A1295G|ENST00000397611,p.A1292G|uc003zks.3,p.A1295G|ENST00000358503,p.A1680G|ENST00000356435,p.A1702G|NM_001040712,p.A1292G|ENST00000381196,p.A1702G|uc003zkq.3,p.A1295G|NM_002839,p.A1702G|ENST00000540109,p.A1702G|ENST00000486161,p.A1295G|uc003zkp.3,p.A1296G|NM_001171025,p.A1295G|uc022bdj.1,p.A1292G|NM_130392,p.A1296G|ENST00000537002,p.A1292G|uc003zkk.3,p.A1702G|ENST00000397617,p.A1295G|ENST00000360074,p.A1689G	retained_intron, protein_coding, processed_transcript	uc022bdj.1	nonsynonymous SNV	exon25	c.C3875G	p.A1292G	PIRGVEGSDYINASFIDGYRQQKAY	PIRGVEGSDYINGSFIDGYRQQKAY	7.0	9.0	-	-	4359_9:8341111-8341111 G>C_PIRGVEGSDYINGSFIDGYRQQKAY
1:248525330-248525330 ->TG	0.0	4359	COLON	-	-	-	-	OR2T4	ENST00000366475,p.M150fs|NM_001004696,p.M150fs|uc001ieh.1,p.M150fs	protein_coding	uc001ieh.1	frameshift insertion	exon1	c.448_449insTG	p.M150fs	TLAGSEFFLLATMAYDRYVAICHPL	TLAGSEFFLLATMWPMTATWPSAILSVTLSS	3.0	5.0	unscreened	-	4359_1:248525330-248525330 ->TG_TLAGSEFFLLATMWPMTATWPSAILSVTLSS
1:222801973-222801973 G>T	1.0	4359	COLON	-	-	-	-	MIA3	uc001hnl.3,p.V471F|ENST00000344922,p.V471F|ENST00000344507,p.V471F|NM_198551,p.V471F|uc009xea.1,p.V307F|ENST00000344441,p.V471F	protein_coding, processed_transcript	uc009xea.1	nonsynonymous SNV	exon1	c.G919T	p.V307F	NAEHHIKGKGRGVQESKRGLVQDKT	NAEHHIKGKGRGFQESKRGLVQDKT	9.0	7.0	unscreened	-	4359_1:222801973-222801973 G>T_NAEHHIKGKGRGFQESKRGLVQDKT
1:196799740-196799740 T>G	0.0	4359	COLON	-	-	-	-	CFHR1	uc001gtm.3,p.L144V|ENST00000320493,p.L240V|uc001gtn.3,p.L240V|ENST00000367424,p.L181V|NM_002113,p.L240V	retained_intron, protein_coding, processed_transcript	uc001gtn.3	nonsynonymous SNV	exon5	c.T718G	p.L240V	APASSVEYQCQNLYQLEGNKRITCR	APASSVEYQCQNVYQLEGNKRITCR	9.0	5.0	-	-	4359_1:196799740-196799740 T>G_APASSVEYQCQNVYQLEGNKRITCR
16:18872057-18872057 G>A	1.0	4359	COLON	-	-	-	-	SMG1	ENST00000446231,p.T1246I|NM_015092,p.T1246I|ENST00000389467,p.T1246I|uc002dfm.3,p.T1246I|uc010bwb.3,p.T1106I|ENST00000565324,p.T1136I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bwb.3	nonsynonymous SNV	exon24	c.C3317T	p.T1106I	LSSFESGKFVECTEQLELLPGENIN	LSSFESGKFVECIEQLELLPGENIN	10.0	9.0	-	-	4359_16:18872057-18872057 G>A_LSSFESGKFVECIEQLELLPGENIN
3:196778514-196778514 C>G	1.0	4359	COLON	-	-	-	-	DLG1	ENST00000419354,p.E848Q|ENST00000448528,p.E848Q|ENST00000443183,p.E744Q|ENST00000346964,p.E870Q|NM_001204387,p.E744Q|uc003fxo.4,p.E848Q|uc011bud.2,p.E531Q|ENST00000450955,p.E837Q|NM_001204386,p.E836Q|ENST00000314062,p.E797Q|uc003fxn.4,p.E870Q|ENST00000422288,p.E797Q|NM_001290983,p.E848Q|ENST00000357674,p.E837Q|ENST00000452595,p.E732Q|NM_004087,p.E870Q|uc011buc.2,p.E732Q|NM_001204388,p.E732Q|uc011bub.2,p.E744Q|uc010ial.3,p.E848Q|uc011bue.2,p.E836Q|ENST00000392382,p.E815Q|NM_001098424,p.E848Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bue.2	nonsynonymous SNV	exon24	c.G2506C	p.E836Q	ENIMEMNKRLTEEQARKTFERAMKL	ENIMEMNKRLTEQQARKTFERAMKL	10.0	8.0	-	-	4359_3:196778514-196778514 C>G_ENIMEMNKRLTEQQARKTFERAMKL
19:35622703-35622703 G>A	1.0	4359	COLON	-	-	-	-	LGI4	ENST00000591633,p.L150F|ENST00000392225,p.L150F|uc002nxx.2,p.L150F|NM_139284,p.L150F|uc002nya.3,p.L150F|ENST00000310123,p.L150F	retained_intron, protein_coding, processed_transcript	uc002nya.3	nonsynonymous SNV	exon5	c.C448T	p.L150F	TLPRFLFRGLDTLTHVDLRGNPFQC	TLPRFLFRGLDTFTHVDLRGNPFQC	7.0	9.0	-	-	4359_19:35622703-35622703 G>A_TLPRFLFRGLDTFTHVDLRGNPFQC
14:102492987-102492987 T>G	1.0	4359	COLON	-	-	-	-	DYNC1H1	NM_001376,p.L2905R|ENST00000360184,p.L2905R|uc001yks.2,p.L2905R	retained_intron, protein_coding, processed_transcript	uc001yks.2	nonsynonymous SNV	exon44	c.T8714G	p.L2905R	VKARLKVFYEEELDVPLVLFNEVLD	VKARLKVFYEEERDVPLVLFNEVLD	10.0	1.0	-	-	4359_14:102492987-102492987 T>G_VKARLKVFYEEERDVPLVLFNEVLD
5:45303784-45303784 ->T	0.0	4359	COLON	-	-	ID=COSM273779;OCCURENCE=2(large_intestine)	-	HCN1	ENST00000303230,p.M512fs|NM_021072,p.M512fs|uc003jok.3,p.M512fs	protein_coding	uc003jok.3	frameshift insertion	exon6	c.1534dupA	p.M512fs	DYIIREGAVGKKMYFIQHGVAGVIT	DYIIREGAVGKKNVFHSTRCCWCHYKIQ	3.0	10.0	-	-	4359_5:45303784-45303784 ->T_DYIIREGAVGKKNVFHSTRCCWCHYKIQ
14:24040435-24040435 ->C	0.0	4359	COLON	-	-	-	-	JPH4	uc001wkq.2,p.A502fs|uc010tnr.1,p.A167fs|ENST00000397118,p.A502fs|ENST00000544177,p.A167fs|NM_001146028,p.A502fs|uc001wkr.2,p.A502fs|ENST00000356300,p.A502fs|NM_032452,p.A502fs	retained_intron, protein_coding	uc010tnr.1	frameshift insertion	exon3	c.499dupG	p.A167fs	SSPKAWPEEWGGAGAQAEELAGYEA	SSPKAWPEEWGGGRRTGRGTSWL	2.0	8.0	-	-	4359_14:24040435-24040435 ->C_SSPKAWPEEWGGGRRTGRGTSWL
19:16689193-16689193 C>A	1.0	4359	COLON	-	-	-	-	MED26	ENST00000593459,p.S48I	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000593459	nonsynonymous SNV	exon4	c.G143T	p.S48I	PSTDPEHGGGAGSHLQPGEIPYYQR	PSTDPEHGGGAGIHLQPGEIPYYQR	9.0	9.0	unscreened	-	4359_19:16689193-16689193 C>A_PSTDPEHGGGAGIHLQPGEIPYYQR
17:68171730-68171730 G>T	1.0	4359	COLON	-	-	-	-	KCNJ2	ENST00000243457,p.A184S|uc021ucj.1,p.A184S|NM_000891,p.A184S|uc010dfg.3,p.A184S|uc002jir.3,p.A184S|ENST00000535240,p.A184S	protein_coding	uc021ucj.1	nonsynonymous SNV	exon1	c.G550T	p.A184S	DAFIIGAVMAKMAKPKKRNETLVFS	DAFIIGAVMAKMSKPKKRNETLVFS	6.0	5.0	-	-	4359_17:68171730-68171730 G>T_DAFIIGAVMAKMSKPKKRNETLVFS
1:103345447-103345447 T>G	0.0	4359	COLON	-	-	-	-	COL11A1	uc001duk.3,p.N885T|NM_080630,p.N1573T|uc001dun.3,p.N1650T|uc001dul.3,p.N1689T|NM_080629,p.N1701T|NM_001190709,p.N1650T|ENST00000353414,p.N1650T|NM_001854,p.N1689T|uc009weh.3,p.N1573T|ENST00000370096,p.N1689T|uc001dum.3,p.N1701T|ENST00000358392,p.N1701T|ENST00000512756,p.N1573T	retained_intron, protein_coding, processed_transcript	uc009weh.3	nonsynonymous SNV	exon64	c.A4718C	p.N1573T	RGKLLSYLDVEGNSINMVQMTFLKL	RGKLLSYLDVEGTSINMVQMTFLKL	6.0	2.0	-	-	4359_1:103345447-103345447 T>G_RGKLLSYLDVEGTSINMVQMTFLKL
7:6821013-6821013 A>C	0.0	4359	COLON	-	-	-	-	RSPH10B,RSPH10B2	NM_173565,p.K555T|uc011jxc.2,p.K256T|ENST00000433859,p.K555T|uc010ktk.1,p.K555T|ENST00000297186,p.K555T|uc003sqw.1,p.K555T|ENST00000403107,p.K555T|ENST00000404077,p.K555T|NM_001099697,p.K555T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jxc.2	nonsynonymous SNV	exon8	c.A767C	p.K256T	QQRTLYSMSYMNKCWEIYLAYCRPS	QQRTLYSMSYMNTCWEIYLAYCRPS	4.0	1.0	-	-	4359_7:6821013-6821013 A>C_QQRTLYSMSYMNTCWEIYLAYCRPS
15:40750994-40750994 C>A	1.0	4359	COLON	-	-	-	-	BAHD1	uc001zlt.2,p.L111I|ENST00000561234,p.L111I|uc001zlu.2,p.L111I|NM_001301132,p.L111I|NM_014952,p.L111I|ENST00000416165,p.L111I|uc001zlv.2,p.L111I|uc010bbp.1,p.L111I|ENST00000560846,p.L111I	retained_intron, protein_coding	uc010bbp.1	nonsynonymous SNV	exon2	c.C331A	p.L111I	PPSPAPSSEDPGLAQPRKRRLASLN	PPSPAPSSEDPGIAQPRKRRLASLN	5.0	6.0	-	-	4359_15:40750994-40750994 C>A_PPSPAPSSEDPGIAQPRKRRLASLN
19:55665526-55665526 G>A	0.0	4359	COLON	-	-	-	-	TNNI3	ENST00000588882,p.R116W|ENST00000344887,p.R141W|uc002qjg.4,p.R141W	retained_intron, protein_coding, processed_transcript	uc002qjg.4	nonsynonymous SNV	exon7	c.C421T	p.R141W	TQKIFDLRGKFKRPTLRRVRISADA	TQKIFDLRGKFKWPTLRRVRISADA	4.0	2.0	-	-	4359_19:55665526-55665526 G>A_TQKIFDLRGKFKWPTLRRVRISADA
22:44583659-44583659 T>G	0.0	4359	COLON	-	-	-	-	PARVG	ENST00000356909,p.L50V|ENST00000444313,p.L50V|NM_001137605,p.L50V|ENST00000415224,p.L50V|uc011aqe.3,p.L50V|NM_022141,p.L50V|ENST00000422871,p.L50V|uc003bep.4,p.L50V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aqe.3	nonsynonymous SNV	exon5	c.T148G	p.L50V	RKDPKFEELQKVLMEWINATLLPEH	RKDPKFEELQKVVMEWINATLLPEH	6.0	5.0	-	-	4359_22:44583659-44583659 T>G_RKDPKFEELQKVVMEWINATLLPEH
7:48312917-48312917 A>C	0.0	4359	COLON	-	-	-	-	ABCA13	ENST00000435803,p.Q1218H|uc003toq.2,p.Q1218H|NM_152701,p.Q1218H|uc010kyr.2,p.Q721H	retained_intron, protein_coding, nonsense_mediated_decay	uc010kyr.2	nonsynonymous SNV	exon18	c.A2163C	p.Q721H	ARLILNLFKNVTQANDFHNWEDFLD	ARLILNLFKNVTHANDFHNWEDFLD	4.0	4.0	-	-	4359_7:48312917-48312917 A>C_ARLILNLFKNVTHANDFHNWEDFLD
5:36052058-36052058 T>A	0.0	4359	COLON	-	-	-	-	UGT3A2	uc011cos.2,p.Q41H|ENST00000513300,p.Q41H|NM_001168316,p.Q41H	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cos.2	nonsynonymous SNV	exon2	c.A123T	p.Q41H	STVDFKKEEKSYQVISWLAPEDHQR	STVDFKKEEKSYHVISWLAPEDHQR	1.0	7.0	-	-	4359_5:36052058-36052058 T>A_STVDFKKEEKSYHVISWLAPEDHQR
5:36052058-36052058 T>A	0.0	4359	COLON	-	-	-	-	UGT3A2	uc003jjz.2,p.Q75H|ENST00000282507,p.Q75H|ENST00000515131,p.Q75H|ENST00000504685,p.Q75H|NM_174914,p.Q75H	protein_coding, processed_transcript, nonsense_mediated_decay	uc003jjz.2	nonsynonymous SNV	exon3	c.A225T	p.Q75H	FMPDFKKEEKSYQVISWLAPEDHQR	FMPDFKKEEKSYHVISWLAPEDHQR	1.0	7.0	-	-	4359_5:36052058-36052058 T>A_FMPDFKKEEKSYHVISWLAPEDHQR
2:131414398-131414398 G>A	1.0	4359	COLON	-	-	-	-	POTEJ	NM_001277083,p.A689T|uc021vor.2,p.A689T|ENST00000409602,p.A689T	protein_coding	uc021vor.2	nonsynonymous SNV	exon15	c.G2065A	p.A689T	SGMCKAGFAGDDAPRAVFPSIVGCP	SGMCKAGFAGDDTPRAVFPSIVGCP	8.0	8.0	-	-	4359_2:131414398-131414398 G>A_SGMCKAGFAGDDTPRAVFPSIVGCP
15:28459022-28459022 G>A	1.0	4359	COLON	-	-	-	-	HERC2	ENST00000261609,p.R2218C|NM_004667,p.R2218C|uc001zbj.4,p.R2218C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zbj.4	nonsynonymous SNV	exon42	c.C6652T	p.R2218C	VLAVIGGIDGRLRLGGQVMHDEFGE	VLAVIGGIDGRLCLGGQVMHDEFGE	8.0	8.0	-	-	4359_15:28459022-28459022 G>A_VLAVIGGIDGRLCLGGQVMHDEFGE
19:5258055-5258055 A>G	0.0	4359	COLON	-	-	-	-	PTPRS	ENST00000357368,p.S227P|uc002mbx.3,p.S218P|uc002mbv.3,p.S227P|NM_130855,p.S218P|ENST00000587303,p.S227P|ENST00000372412,p.S228P|NM_002850,p.S227P	retained_intron, protein_coding, processed_transcript	uc002mbx.3	nonsynonymous SNV	exon6	c.T652C	p.S218P	ECVATNSAGVRYSSPANLYVRELRE	ECVATNSAGVRYPSPANLYVRELRE	5.0	4.0	-	-	4359_19:5258055-5258055 A>G_ECVATNSAGVRYPSPANLYVRELRE
9:40773541-40773541 G>T	1.0	4359	COLON	-	-	-	-	ZNF658	uc010mmm.2,p.D578E|ENST00000479710,p.D578E|uc004abs.2,p.D578E|ENST00000441795,p.D576E|uc010mmn.1,p.D578E|ENST00000602553,p.D578E|NM_033160,p.D578E|ENST00000377626,p.D578E	protein_coding, nonsense_mediated_decay	uc010mmn.1	nonsynonymous SNV	exon5	c.C1734A	p.D578E	RVHTGEKPYECNDCGKSFTYNSALR	RVHTGEKPYECNECGKSFTYNSALR	8.0	5.0	-	-	4359_9:40773541-40773541 G>T_RVHTGEKPYECNECGKSFTYNSALR
1:218610734-218610734 A>G	0.0	4359	COLON	-	-	-	-	TGFB2	ENST00000366929,p.R356G|ENST00000366930,p.R328G|uc001hlm.3,p.R328G|NM_003238,p.R328G|NM_001135599,p.R356G|uc001hln.3,p.R356G	protein_coding, processed_transcript	uc001hln.3	nonsynonymous SNV	exon7	c.A1066G	p.R356G	NCCLRPLYIDFKRDLGWKWIHEPKG	NCCLRPLYIDFKGDLGWKWIHEPKG	6.0	4.0	unscreened	-	4359_1:218610734-218610734 A>G_NCCLRPLYIDFKGDLGWKWIHEPKG
2:130897154-130897154 G>A	0.0	4359	COLON	-	-	-	-	CCDC74B	uc002tqn.2,p.R307W|ENST00000310463,p.R373W|uc010yzw.2,p.R475W|NM_207310,p.R373W|uc002tqm.2,p.R373W|NM_001258307,p.R307W|ENST00000409943,p.R307W|ENST00000392984,p.R475W	retained_intron, protein_coding, nonsense_mediated_decay	uc010yzw.2	nonsynonymous SNV	exon7	c.C1423T	p.R475W	AERQKRLQAMQKRRLHRSVL	AERQKRLQAMQKWRLHRSVL	4.0	8.0	-	-	4359_2:130897154-130897154 G>A_AERQKRLQAMQKWRLHRSVL
7:100639434-100639434 G>C	1.0	4359	COLON	-	-	-	-	MUC12	ENST00000379442,p.V2007L|NM_001164462,p.V1864L|uc003uxo.3,p.V1864L|ENST00000536621,p.V1864L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G5590C	p.V1864L	ASHSSQDATGTIVLPARSTTSVLLG	ASHSSQDATGTILLPARSTTSVLLG	8.0	5.0	-	-	4359_7:100639434-100639434 G>C_ASHSSQDATGTILLPARSTTSVLLG
19:5258055-5258055 A>G	0.0	4359	COLON	-	-	-	-	PTPRS	ENST00000262963,p.S227P|NM_130854,p.S218P|uc002mbu.1,p.S218P|NM_130853,p.S218P|uc010xin.2,p.S218P|ENST00000353284,p.S218P|ENST00000348075,p.S218P|ENST00000588012,p.S218P|ENST00000592099,p.S218P|uc002mbw.3,p.S218P|uc002mby.3,p.S218P	retained_intron, protein_coding, processed_transcript	uc010xin.2	nonsynonymous SNV	exon5	c.T652C	p.S218P	ECVATNSAGVRYSSPANLYVRVRRV	ECVATNSAGVRYPSPANLYVRVRRV	5.0	4.0	-	-	4359_19:5258055-5258055 A>G_ECVATNSAGVRYPSPANLYVRVRRV
1:218610735-218610735 G>T	0.0	4359	COLON	-	-	-	-	TGFB2	NM_001135599,p.R356M|uc001hln.3,p.R356M|ENST00000366929,p.R356M|uc001hlm.3,p.R328M|ENST00000366930,p.R328M|NM_003238,p.R328M	protein_coding, processed_transcript	uc001hln.3	nonsynonymous SNV	exon7	c.G1067T	p.R356M	NCCLRPLYIDFKRDLGWKWIHEPKG	NCCLRPLYIDFKMDLGWKWIHEPKG	6.0	4.0	unscreened	-	4359_1:218610735-218610735 G>T_NCCLRPLYIDFKMDLGWKWIHEPKG
19:44160726-44160726 C>T	0.0	4359	COLON	-	-	-	-	PLAUR	ENST00000221264,p.S126N|NM_002659,p.S126N|ENST00000340093,p.S126N|uc002oxf.2,p.S126N|NM_001005376,p.S126N|ENST00000601723,p.S126N|uc002oxd.2,p.S126N|ENST00000602141,p.S101N|ENST00000599892,p.S101N|ENST00000339082,p.S126N|uc002oxg.2,p.S126N|NM_001005377,p.S126N|ENST00000593939,p.S121N|NM_001301037,p.S126N	retained_intron, protein_coding, nonsense_mediated_decay	uc002oxg.2	nonsynonymous SNV	exon4	c.G377A	p.S126N	YLECISCGSSDMSCERGRHQSLQCR	YLECISCGSSDMNCERGRHQSLQCR	9.0	1.0	-	-	4359_19:44160726-44160726 C>T_YLECISCGSSDMNCERGRHQSLQCR
5:140812565-140812565 C>A	0.0	4359	COLON	-	-	-	-	PCDHGA12	uc011dba.2,p.Q747K|NM_032094,p.Q747K|NM_003735,p.Q747K|ENST00000252085,p.Q747K|uc003lkt.2,p.Q747K	protein_coding	uc011dba.2	nonsynonymous SNV	exon1	c.C2239A	p.Q747K	APASHFVGVDGVQAFLQTYSHEVSL	APASHFVGVDGVKAFLQTYSHEVSL	5.0	1.0	-	-	4359_5:140812565-140812565 C>A_APASHFVGVDGVKAFLQTYSHEVSL
12:6933770-6933770 C>T	0.0	4359	COLON	-	-	-	-	GPR162	NM_019858,p.R236W|uc010sfn.1,p.R236W|uc001qqw.1,p.R236W|ENST00000311268,p.R236W	retained_intron, protein_coding, processed_transcript	uc010sfn.1	nonsynonymous SNV	exon2	c.C706T	p.R236W	GTKAGGPGALGTRPAFEVPAIVVED	GTKAGGPGALGTWPAFEVPAIVVED	3.0	6.0	-	-	4359_12:6933770-6933770 C>T_GTKAGGPGALGTWPAFEVPAIVVED
17:6718540-6718540 G>A	0.0	4359	COLON	-	-	-	-	TEKT1	ENST00000535086,p.L45F|NM_053285,p.L191F|ENST00000338694,p.L191F|uc010vth.2,p.L45F|uc002gdt.3,p.L191F	retained_intron, protein_coding, nonsense_mediated_decay	uc010vth.2	nonsynonymous SNV	exon4	c.C133T	p.L45F	FVALTIDDICFSLNNNSPNIRYSEN	FVALTIDDICFSFNNNSPNIRYSEN	1.0	10.0	-	-	4359_17:6718540-6718540 G>A_FVALTIDDICFSFNNNSPNIRYSEN
16:21709128-21709128 T>G	0.0	4359	COLON	-	-	-	-	OTOA	uc010vbj.2,p.L179V|ENST00000286149,p.L258V|uc002djh.3,p.L258V|ENST00000388958,p.L258V|NM_001161683,p.L179V|ENST00000388956,p.L179V|NM_144672,p.L258V	retained_intron, protein_coding, processed_transcript	uc010vbj.2	nonsynonymous SNV	exon5	c.T535G	p.L179V	TDDSASWVSAEHLWVLGRYMVHLSF	TDDSASWVSAEHVWVLGRYMVHLSF	3.0	5.0	-	-	4359_16:21709128-21709128 T>G_TDDSASWVSAEHVWVLGRYMVHLSF
11:49053390-49053390 T>G	0.0	4359	COLON	-	-	-	-	TRIM49B	NM_001206626,p.V80G|ENST00000332682,p.V80G|uc021qix.1,p.V80G	protein_coding	uc021qix.1	nonsynonymous SNV	exon1	c.T239G	p.V80G	IHFKKMASLARKVSLWLFLSSEEQM	IHFKKMASLARKGSLWLFLSSEEQM	3.0	5.0	-	-	4359_11:49053390-49053390 T>G_IHFKKMASLARKGSLWLFLSSEEQM
20:57598951-57598951 G>C	1.0	4359	COLON	-	-	-	-	TUBB1	NM_030773,p.E157Q|ENST00000217133,p.E157Q|uc002yak.3,p.E157Q	protein_coding	uc002yak.3	nonsynonymous SNV	exon4	c.G469C	p.E157Q	SGMGTLLMNKIREEYPDRIMNSFSV	SGMGTLLMNKIRQEYPDRIMNSFSV	5.0	7.0	-	-	4359_20:57598951-57598951 G>C_SGMGTLLMNKIRQEYPDRIMNSFSV
7:127670623-127670623 A>C	0.0	4359	COLON	-	-	-	-	LRRC4	ENST00000249363,p.L24R|uc003vmk.3,p.L24R|uc022akv.1,p.L24R|ENST00000478726,p.L24R|NM_022143,p.L24R|ENST00000476782,p.L24R	protein_coding	uc022akv.1	nonsynonymous SNV	exon1	c.T71G	p.L24R	HTWNAILLPFVYLTAQVWILCAAIA	HTWNAILLPFVYRTAQVWILCAAIA	2.0	4.0	-	-	4359_7:127670623-127670623 A>C_HTWNAILLPFVYRTAQVWILCAAIA
17:76160368-76160368 A>G	0.0	4359	COLON	-	-	-	-	C17orf99	uc002jus.4,p.Q188R|ENST00000340363,p.Q188R|uc010wts.1,p.Q175R|NM_001163075,p.Q188R	protein_coding, processed_transcript	uc010wts.1	nonsynonymous SNV	exon3	c.A524G	p.Q175R	HRQPANFSFLPSQTSDWFWCQAANN	HRQPANFSFLPSRTSDWFWCQAANN	3.0	6.0	-	-	4359_17:76160368-76160368 A>G_HRQPANFSFLPSRTSDWFWCQAANN
2:179447918-179447918 G>T	0.0	4359	COLON	-	-	-	-	TTN	ENST00000342992,p.S19303Y|uc031rqc.1,p.S21871Y|NM_133432,p.S12931Y|uc021vsy.2,p.S19303Y|NM_003319,p.S12806Y|ENST00000460472,p.S12806Y|ENST00000591111,p.S20230Y|uc021vsz.2,p.S12998Y|ENST00000359218,p.S12931Y|uc031rqd.1,p.S20230Y|uc021vtb.2,p.S12806Y|NM_133437,p.S12998Y|ENST00000589042,p.S21871Y|NM_133378,p.S19303Y|NM_001256850,p.S20230Y|ENST00000342175,p.S12998Y|uc021vta.2,p.S12931Y|NM_001267550,p.S21871Y	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon263	c.C60689A	p.S20230Y	VPPRIDLSVAMKSLLTVKAGTNVCL	VPPRIDLSVAMKYLLTVKAGTNVCL	4.0	8.0	-	-	4359_2:179447918-179447918 G>T_VPPRIDLSVAMKYLLTVKAGTNVCL
7:140373842-140373842 C>G	0.0	4359	COLON	-	-	-	-	ADCK2	ENST00000476491,p.L238V|uc003vvy.1,p.L238V|ENST00000072869,p.L238V|NM_052853,p.L238V|uc003vvz.3,p.L238V	retained_intron, protein_coding	uc003vvz.3	nonsynonymous SNV	exon1	c.C712G	p.L238V	TDSVQRLGRASCLPPFSHTGAVGGL	TDSVQRLGRASCVPPFSHTGAVGGL	6.0	3.0	-	-	4359_7:140373842-140373842 C>G_TDSVQRLGRASCVPPFSHTGAVGGL
15:84639257-84639257 G>C	0.0	4359	COLON	-	-	-	-	ADAMTSL3	uc002bjz.4,p.G838R|NM_207517,p.G838R|uc010bmt.1,p.G838R|ENST00000286744,p.G838R|ENST00000567476,p.G838R|NM_001301110,p.G838R	retained_intron, protein_coding, processed_transcript	uc010bmt.1	nonsynonymous SNV	exon20	c.G2512C	p.G838R	GDWSKCSVSCGVGIQRRKQVCQRLA	GDWSKCSVSCGVRIQRRKQVCQRLA	5.0	8.0	-	-	4359_15:84639257-84639257 G>C_GDWSKCSVSCGVRIQRRKQVCQRLA
1:156770187-156770187 ->TGAA	0.0	4359	COLON	-	-	-	1	PRCC	ENST00000353233,p.L439fs|NM_005973,p.L471fs|ENST00000526188,p.L178fs|ENST00000271526,p.L471fs|uc001fqa.3,p.L471fs	retained_intron, protein_coding, processed_transcript	uc001fqa.3	frameshift insertion	exon7	c.1411_1412insTGAA	p.L471fs	YLIHQAKERELELKNTWSENKLSRR	YLIHQAKERELELNEEHLVREQAQPPSDPSQIWIL	9.0	5.0	unscreened	-	4359_1:156770187-156770187 ->TGAA_YLIHQAKERELELNEEHLVREQAQPPSDPSQIWIL
13:96529983-96529983 G>A	1.0	4359	COLON	-	-	-	-	UGGT2	NM_020121,p.A1119V|ENST00000376747,p.A1119V|uc001vmt.3,p.A1119V	retained_intron, protein_coding, processed_transcript	uc001vmt.3	nonsynonymous SNV	exon28	c.C3356T	p.A1119V	GLQFTLGTKNKPAVVDTIVMAHHGY	GLQFTLGTKNKPVVVDTIVMAHHGY	10.0	3.0	-	-	4359_13:96529983-96529983 G>A_GLQFTLGTKNKPVVVDTIVMAHHGY
1:200954045-200954045 C>A	0.0	4359	COLON	-	-	-	-	KIF21B	NM_001252100,p.D1249Y|NM_001252103,p.D1249Y|ENST00000461742,p.D1249Y|NM_017596,p.D1249Y|NM_001252102,p.D1249Y|ENST00000422435,p.D1249Y|ENST00000360529,p.D1249Y|uc010ppn.2,p.D1249Y|uc009wzl.2,p.D1249Y|uc001gvr.2,p.D1249Y|ENST00000332129,p.D1249Y|uc001gvs.2,p.D1249Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010ppn.2	nonsynonymous SNV	exon27	c.G3745T	p.D1249Y	TPPSSPPTRPRNDRNVFSRLTSNQS	TPPSSPPTRPRNYRNVFSRLTSNQS	3.0	7.0	-	-	4359_1:200954045-200954045 C>A_TPPSSPPTRPRNYRNVFSRLTSNQS
13:96529983-96529983 G>A	1.0	4359	COLON	-	-	-	-	UGGT2	uc001vmu.1,p.A206V	retained_intron, protein_coding, processed_transcript	uc001vmu.1	nonsynonymous SNV	exon6	c.C617T	p.A206V	GLQFTLGTKNKPAVVDTIVMAHHVS	GLQFTLGTKNKPVVVDTIVMAHHVS	10.0	3.0	-	-	4359_13:96529983-96529983 G>A_GLQFTLGTKNKPVVVDTIVMAHHVS
11:57004148-57004148 C>T	0.0	4359	COLON	-	-	-	-	APLNR	ENST00000257254,p.V111I|NM_005161,p.V111I|ENST00000606794,p.V111I|uc001njo.3,p.V111I	protein_coding	uc001njo.3	nonsynonymous SNV	exon1	c.G331A	p.V111I	TFFCKLSSYLIFVNMYASVFCLTGL	TFFCKLSSYLIFINMYASVFCLTGL	3.0	8.0	-	-	4359_11:57004148-57004148 C>T_TFFCKLSSYLIFINMYASVFCLTGL
12:31577543-31577543 C>G	1.0	4359	COLON	-	-	-	-	DENND5B	ENST00000536562,p.E808Q|ENST00000306833,p.E808Q|uc001rkh.1,p.E808Q|uc001rki.1,p.E773Q|ENST00000389082,p.E773Q|NM_144973,p.E773Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rki.1	nonsynonymous SNV	exon10	c.G2317C	p.E773Q	ELGHGEANITGLEENTLIASLCDLL	ELGHGEANITGLQENTLIASLCDLL	6.0	8.0	-	-	4359_12:31577543-31577543 C>G_ELGHGEANITGLQENTLIASLCDLL
17:8701173-8701179 AGCTTTG>-	0.0	4359	COLON	-	-	-	-	MFSD6L	ENST00000329805,p.F420fs|uc002glp.2,p.F420fs|NM_152599,p.F420fs	protein_coding	uc002glp.2	frameshift deletion	exon1	c.1260_1266del	p.F420fs	ALSLLGEILLHPFKATLLRKLSRTGL	ALSLLGEILLHPLHCLGNCPGRAWWGWG	3.0	1.0	unscreened	-	4359_17:8701173-8701179 AGCTTTG>-_ALSLLGEILLHPLHCLGNCPGRAWWGWG
6:30917247-30917247 G>T	0.0	4359	COLON	-	-	-	-	DPCR1	ENST00000462446,p.A336S|uc003nsg.2,p.A336S|NM_080870,p.A336S	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.G1006T	p.A336S	IENRERTANENTAPFPAGPTENREM	IENRERTANENTSPFPAGPTENREM	5.0	4.0	unscreened	-	4359_6:30917247-30917247 G>T_IENRERTANENTSPFPAGPTENREM
5:40998774-40998774 C>T	0.0	4359	COLON	0.0014	-	-	-	MROH2B	ENST00000506092,p.V1086I|uc003jmj.4,p.V1531I|NM_173489,p.V1531I|ENST00000399564,p.V1531I|uc003jmi.4,p.V1086I	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon41	c.G4591A	p.V1531I	VIRSAAVKLTDAVVLNLTSQYVELL	VIRSAAVKLTDAIVLNLTSQYVELL	1.0	7.0	-	-	4359_5:40998774-40998774 C>T_VIRSAAVKLTDAIVLNLTSQYVELL
14:24045191-24045191 T>C	0.0	4359	COLON	-	-	-	-	JPH4	uc001wkr.2,p.E285G|ENST00000397118,p.E285G|uc001wks.2,p.E285G|uc001wkq.2,p.E285G|NM_001146028,p.E285G|ENST00000356300,p.E285G|NM_032452,p.E285G	retained_intron, protein_coding	uc001wks.2	nonsynonymous SNV	exon3	c.A854G	p.E285G	LIEGSATEVYAGEWRADRRSGFGVS	LIEGSATEVYAGGWRADRRSGFGVS	2.0	6.0	-	-	4359_14:24045191-24045191 T>C_LIEGSATEVYAGGWRADRRSGFGVS
X:49069246-49069246 C>A	0.0	4359	COLON	-	-	-	-	CACNA1F	uc010nip.3,p.D1275Y|NM_001256789,p.D1275Y|uc004dnb.3,p.D1286Y|ENST00000376265,p.D1286Y|NM_001256790,p.D1221Y|uc031tjm.1,p.D1221Y|ENST00000323022,p.D1275Y|NM_005183,p.D1286Y|ENST00000376251,p.D1221Y	retained_intron, protein_coding, processed_transcript	uc031tjm.1	nonsynonymous SNV	exon33	c.G3661T	p.D1221Y	VNNGGHLGESSEDSSRISITFFRLF	VNNGGHLGESSEYSSRISITFFRLF	3.0	7.0	-	-	4359_X:49069246-49069246 C>A_VNNGGHLGESSEYSSRISITFFRLF
1:152733520-152733520 C>A	0.0	4359	COLON	-	-	-	-	KPRP	NM_001025231,p.P486T|ENST00000368773,p.P486T|uc001fal.1,p.P486T|ENST00000606109,p.P486T|uc021ozf.1,p.P486T	protein_coding	uc021ozf.1	nonsynonymous SNV	exon1	c.C1456A	p.P486T	PRPEPIPLPAPCPSPEPCRETWRSP	PRPEPIPLPAPCTSPEPCRETWRSP	1.0	6.0	unscreened	-	4359_1:152733520-152733520 C>A_PRPEPIPLPAPCTSPEPCRETWRSP
19:52272120-52272120 C>A	1.0	4359	COLON	-	-	-	-	FPR2	ENST00000600722,p.A70D|ENST00000599326,p.A70D|uc021uyp.1,p.A70D|ENST00000598776,p.A70D|ENST00000340023,p.A70D|uc002pxr.3,p.A70D|NM_001462,p.A70D|uc002pxs.4,p.A70D|uc010epf.3,p.A70D|ENST00000600258,p.A70D|NM_001005738,p.A70D|ENST00000598953,p.A70D	protein_coding	uc021uyp.1	nonsynonymous SNV	exon1	c.C209A	p.A70D	TVTTICYLNLALADFSFTATLPFLI	TVTTICYLNLALDDFSFTATLPFLI	4.0	9.0	-	-	4359_19:52272120-52272120 C>A_TVTTICYLNLALDDFSFTATLPFLI
16:711785-711785 C>A	0.0	4359	COLON	-	-	-	-	WDR90	ENST00000549091,p.Q1288K|uc002cii.1,p.Q1288K|ENST00000293879,p.Q1288K|uc002cik.1,p.Q815K|uc002cim.1,p.Q462K|NM_145294,p.Q1288K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cim.1	nonsynonymous SNV	exon11	c.C1384A	p.Q462K	WLLQQRGADISLQVRREPVPEAVGA	WLLQQRGADISLKVRREPVPEAVGA	6.0	1.0	-	-	4359_16:711785-711785 C>A_WLLQQRGADISLKVRREPVPEAVGA
17:15640806-15640806 A>C	0.0	4359	COLON	-	rs200208182	-	-	TBC1D26	NM_178571,p.E56A|uc010cov.3,p.E56A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cov.3	nonsynonymous SNV	exon5	c.A167C	p.E56A	KYTNNLGIVHEMELPRVSALEVKQR	KYTNNLGIVHEMALPRVSALEVKQR	3.0	3.0	unscreened	-	4359_17:15640806-15640806 A>C_KYTNNLGIVHEMALPRVSALEVKQR
4:87729037-87729037 T>A	1.0	4359	COLON	-	-	-	1	PTPN13	uc003hqb.3,p.L2166H|uc003hpy.3,p.L2362H|NM_080685,p.L2362H|uc003hqa.3,p.L2338H|ENST00000427191,p.L2338H|ENST00000436978,p.L2362H|NM_080683,p.L2357H|ENST00000511467,p.L2362H|ENST00000411767,p.L2357H|NM_080684,p.L2166H|NM_006264,p.L2338H|ENST00000316707,p.L2166H|uc003hpz.3,p.L2357H	retained_intron, protein_coding	uc003hqb.3	nonsynonymous SNV	exon42	c.T6497A	p.L2166H	QQLKGFVVRAMTLEDIQTREVRHIS	QQLKGFVVRAMTHEDIQTREVRHIS	6.0	4.0	-	-	4359_4:87729037-87729037 T>A_QQLKGFVVRAMTHEDIQTREVRHIS
12:50471078-50471078 C>T	0.0	4359	COLON	-	-	ID=COSM694339;OCCURENCE=1(endometrium),1(lung)	-	ASIC1	uc009zlo.4,p.T214M|ENST00000447966,p.T214M|NM_001256830,p.T248M|ENST00000552438,p.T248M|uc001rvw.4,p.T214M|uc021qxr.2,p.T248M|NM_020039,p.T214M|ENST00000228468,p.T214M|uc031qhf.1,p.T117M|NM_001095,p.T214M|uc001rvv.4,p.T214M	retained_intron, protein_coding, nonsense_mediated_decay	uc031qhf.1	nonsynonymous SNV	exon3	c.C350T	p.T117M	DGRPRLKTMKGGTGNGLEIMLDIQQ	DGRPRLKTMKGGMGNGLEIMLDIQQ	5.0	10.0	-	-	4359_12:50471078-50471078 C>T_DGRPRLKTMKGGMGNGLEIMLDIQQ
1:159162389-159162389 A>T	0.0	4359	COLON	-	-	-	-	CADM3	ENST00000416746,p.Q84L|ENST00000368125,p.Q84L|uc009wsx.1,p.Q118L|ENST00000368124,p.Q118L|NM_001127173,p.Q84L|uc009wsy.1,p.Q84L|NM_021189,p.Q118L|uc001ftl.2,p.Q84L|uc001ftk.2,p.Q118L	protein_coding, processed_transcript	uc009wsy.1	nonsynonymous SNV	exon3	c.A251T	p.Q84L	FGEKRALRDNRIQLVTSTPHELSIS	FGEKRALRDNRILLVTSTPHELSIS	2.0	3.0	-	-	4359_1:159162389-159162389 A>T_FGEKRALRDNRILLVTSTPHELSIS
15:41247844-41247844 C>T	1.0	4359	COLON	-	-	-	-	CHAC1	uc010uct.1,p.R178C|NM_001142776,p.R178C|uc001znh.2,p.R223C|ENST00000446533,p.R223C|ENST00000444189,p.R178C|NM_024111,p.R223C	protein_coding	uc010uct.1	nonsynonymous SNV	exon4	c.C532T	p.R178C	RGFSGHNLEYLLRLADFMQLCGPQA	RGFSGHNLEYLLCLADFMQLCGPQA	4.0	10.0	-	-	4359_15:41247844-41247844 C>T_RGFSGHNLEYLLCLADFMQLCGPQA
14:104026376-104026376 A>C	1.0	4359	COLON	-	-	-	-	BAG5	NM_001015048,p.L376V|ENST00000445922,p.L376V|NM_001015049,p.L417V|uc001ynh.2,p.L417V|ENST00000337322,p.L417V|ENST00000299204,p.L376V|uc021seg.1,p.L376V|uc001yni.2,p.L376V|NM_004873,p.L376V|uc001ynj.2,p.L376V	protein_coding	uc021seg.1	nonsynonymous SNV	exon1	c.T1126G	p.L376V	PSHKAVWNVLGNLSEIQGEVLSFDG	PSHKAVWNVLGNVSEIQGEVLSFDG	7.0	5.0	-	-	4359_14:104026376-104026376 A>C_PSHKAVWNVLGNVSEIQGEVLSFDG
20:50768728-50768728 G>C	0.0	4359	COLON	-	-	-	-	ZFP64	ENST00000346617,p.A614G|uc002xwl.3,p.A668G|NM_022088,p.A614G|NM_018197,p.A668G|NM_199426,p.A666G|uc002xwn.3,p.A614G|ENST00000371515,p.A666G|ENST00000216923,p.A668G|uc002xwm.3,p.A666G	protein_coding, processed_transcript	uc002xwn.3	nonsynonymous SNV	exon5	c.C1841G	p.A614G	LPKQTYSIIQGAAHPALLCPADSIP	LPKQTYSIIQGAGHPALLCPADSIP	9.0	1.0	-	-	4359_20:50768728-50768728 G>C_LPKQTYSIIQGAGHPALLCPADSIP
4:159526272-159526272 T>C	0.0	4359	COLON	-	-	-	-	RXFP1	NM_001253729,p.Y149H|NM_021634,p.Y149H|NM_001253730,p.Y19H|NM_001253727,p.Y176H|ENST00000307765,p.Y149H|ENST00000471616,p.Y149H|ENST00000423548,p.Y149H|uc011cje.2,p.Y176H|uc010iqm.3,p.Y116H|uc011cjb.2,p.Y95H|ENST00000448688,p.Y68H|ENST00000470033,p.Y116H|uc011cjc.2,p.Y68H|uc003ipz.3,p.Y149H|ENST00000460056,p.Y68H|uc011cjd.2,p.Y68H|uc011cjf.2,p.Y19H|ENST00000343542,p.Y149H|uc010iqn.3,p.Y95H|NM_001253728,p.Y116H|uc010iqo.3,p.Y149H|uc011cja.2,p.Y68H	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cjf.2	nonsynonymous SNV	exon4	c.T55C	p.Y19H	LIRKLPPDCFKNYHDLQKLYLQNNK	LIRKLPPDCFKNHHDLQKLYLQNNK	3.0	10.0	-	-	4359_4:159526272-159526272 T>C_LIRKLPPDCFKNHHDLQKLYLQNNK
11:134051015-134051015 A>C	1.0	4359	COLON	-	-	-	-	NCAPD3	NM_015261,p.V839G|uc001qhd.1,p.V839G|ENST00000534548,p.V839G|ENST00000534532,p.V839G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qhd.1	nonsynonymous SNV	exon20	c.T2516G	p.V839G	VLSTCEHRLSNIVLKENGTGNMDED	VLSTCEHRLSNIGLKENGTGNMDED	7.0	6.0	-	-	4359_11:134051015-134051015 A>C_VLSTCEHRLSNIGLKENGTGNMDED
19:49699989-49699989 G>A	1.0	4359	COLON	-	-	-	-	TRPM4	NM_017636,p.G835R|ENST00000355712,p.G481R|uc010yal.2,p.G481R|uc010yak.2,p.G299R|uc002pmx.3,p.G661R|uc002pmw.3,p.G835R|uc002pmy.3,p.G177R|uc010emv.3,p.G720R|ENST00000252826,p.G835R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yal.2	nonsynonymous SNV	exon12	c.G1441A	p.G481R	TLLCEELRQGLSGGGGSLASGGPGP	TLLCEELRQGLSRGGGSLASGGPGP	7.0	9.0	-	-	4359_19:49699989-49699989 G>A_TLLCEELRQGLSRGGGSLASGGPGP
2:72374840-72374840 C>A	0.0	4359	COLON	-	-	-	-	CYP26B1	uc002sih.2,p.D42Y|NM_019885,p.D42Y|NM_001277742,p.D42Y|ENST00000474509,p.D42Y|ENST00000001146,p.D42Y|uc010yrb.2,p.D42Y|ENST00000546307,p.D42Y	protein_coding	uc010yrb.2	nonsynonymous SNV	exon1	c.G124T	p.D42Y	QQLWQLRWAATRDKSCKLPIPKGSM	QQLWQLRWAATRYKSCKLPIPKGSM	4.0	1.0	-	-	4359_2:72374840-72374840 C>A_QQLWQLRWAATRYKSCKLPIPKGSM
19:9062970-9062970 G>A	0.0	4359	COLON	-	-	-	2	MUC16	uc002mkp.3,p.T8159I|ENST00000397910,p.T8159I|NM_024690,p.T8159I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C24476T	p.T8159I	TGATAEVSRTEVTSSSRTSISGFAQ	TGATAEVSRTEVISSSRTSISGFAQ	3.0	10.0	-	-	4359_19:9062970-9062970 G>A_TGATAEVSRTEVISSSRTSISGFAQ
2:178083869-178083869 T>C	1.0	4359	COLON	-	-	-	-	HNRNPA3	ENST00000392524,p.S356P|ENST00000432457,p.S93P|ENST00000435711,p.S356P|uc002ulc.1,p.S356P|NM_194247,p.S356P|uc002ule.3,p.S133P|uc002ulb.1,p.S356P|uc002uld.2,p.S334P|ENST00000411529,p.S334P	retained_intron, protein_coding	uc002ule.3	nonsynonymous SNV	exon4	c.T397C	p.S133P	GPMKGGSFGGRSSGSPYGGGYGSGG	GPMKGGSFGGRSPGSPYGGGYGSGG	10.0	4.0	-	-	4359_2:178083869-178083869 T>C_GPMKGGSFGGRSPGSPYGGGYGSGG
9:32632499-32632499 G>A	0.0	4359	COLON	-	-	ID=COSM1314755;OCCURENCE=1(urinary_tract)	-	TAF1L	uc003zrg.1,p.R1027C|ENST00000242310,p.R1027C|NM_153809,p.R1027C	protein_coding	uc003zrg.1	nonsynonymous SNV	exon1	c.C3079T	p.R1027C	RRLSLKNAKQLLRKFGVPEEEIKKL	RRLSLKNAKQLLCKFGVPEEEIKKL	2.0	10.0	-	-	4359_9:32632499-32632499 G>A_RRLSLKNAKQLLCKFGVPEEEIKKL
X:54957319-54957319 G>A	0.0	4359	COLON	-	-	-	-	TRO	NM_001039705,p.G1388S|uc004dtq.4,p.G1388S|uc004dtw.4,p.G991S|NM_001271183,p.G919S|uc004dtx.4,p.G771S|uc011mok.3,p.G919S|NM_001271184,p.G991S|ENST00000420798,p.G919S|ENST00000375041,p.G991S|ENST00000173898,p.G1388S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mok.3	nonsynonymous SNV	exon10	c.G2755A	p.G919S	GFCSGPSTSGFSGGPSTGAGFGGGP	GFCSGPSTSGFSSGPSTGAGFGGGP	5.0	10.0	-	-	4359_X:54957319-54957319 G>A_GFCSGPSTSGFSSGPSTGAGFGGGP
22:46653806-46653806 ->T	0.0	4359	COLON	-	-	-	-	PKDREJ	NM_006071,p.M1805fs|ENST00000253255,p.M1805fs|uc003bhh.3,p.M1805fs	protein_coding	uc003bhh.3	frameshift insertion	exon1	c.5413dupA	p.M1805fs	LMRQVRAKSSEKMCLPAEKFVQNSI	LMRQVRAKSSEKNVSTCRKVCAKQHQKRNSLSPQIWH	1.0	7.0	-	-	4359_22:46653806-46653806 ->T_LMRQVRAKSSEKNVSTCRKVCAKQHQKRNSLSPQIWH
19:15052320-15052320 C>T	0.0	4359	COLON	-	-	-	-	OR7C2	ENST00000248072,p.T7I|NM_012377,p.T7I|uc010xoc.2,p.T7I	protein_coding	uc010xoc.2	nonsynonymous SNV	exon1	c.C20T	p.T7I	MERGNQTEVGNFLLLGFAE	MERGNQIEVGNFLLLGFAE	1.0	9.0	-	-	4359_19:15052320-15052320 C>T_MERGNQIEVGNFLLLGFAE
11:60170391-60170391 G>T	0.0	4359	COLON	-	-	-	-	MS4A14	uc001npj.3,p.G109C|NM_032597,p.G109C|ENST00000531783,p.G109C|NM_001261828,p.G109C|ENST00000300187,p.G109C|ENST00000525397,p.G109C|uc031qbd.1,p.G109C	protein_coding, nonsense_mediated_decay	uc031qbd.1	nonsynonymous SNV	exon4	c.G325T	p.G109C	TVTDKKSKLLGQGVTGMNVISSLVA	TVTDKKSKLLGQCVTGMNVISSLVA	3.0	10.0	-	-	4359_11:60170391-60170391 G>T_TVTDKKSKLLGQCVTGMNVISSLVA
5:141036071-141036071 T>G	0.0	4359	COLON	-	-	-	-	ARAP3	uc003lll.3,p.K214N|NM_022481,p.K1263N|ENST00000239440,p.K1263N|ENST00000508305,p.K1094N|uc003llm.3,p.K1263N|uc011dbe.2,p.K925N|ENST00000513878,p.K925N|uc003lln.3,p.K1094N	protein_coding, processed_transcript	uc011dbe.2	nonsynonymous SNV	exon21	c.A2775C	p.K925N	LRGRCLLLLKEKKSSKPEREWPLEG	LRGRCLLLLKEKNSSKPEREWPLEG	5.0	1.0	-	-	4359_5:141036071-141036071 T>G_LRGRCLLLLKEKNSSKPEREWPLEG
X:21674438-21674438 G>T	0.0	4359	COLON	-	-	-	-	KLHL34	NM_153270,p.A490E|uc004czz.1,p.A490E|ENST00000379499,p.A490E	protein_coding	uc004czz.1	nonsynonymous SNV	exon1	c.C1469A	p.A490E	ISGGKAGRGEGGASSLRDLYVLGPE	ISGGKAGRGEGGESSLRDLYVLGPE	1.0	10.0	-	-	4359_X:21674438-21674438 G>T_ISGGKAGRGEGGESSLRDLYVLGPE
12:41967221-41967221 G>T	0.0	4359	COLON	-	-	-	-	PDZRN4	uc010skn.2,p.Q880H|NM_001164595,p.Q880H|ENST00000539469,p.Q622H|uc009zjz.3,p.Q620H|ENST00000298919,p.Q620H|NM_013377,p.Q622H|uc001rmr.3,p.Q507H|ENST00000402685,p.Q880H|uc001rmq.4,p.Q622H	retained_intron, protein_coding	uc010skn.2	nonsynonymous SNV	exon10	c.G2640T	p.Q880H	SQLSLVSMCKESQKCSEPKMEWKVK	SQLSLVSMCKESHKCSEPKMEWKVK	1.0	10.0	-	-	4359_12:41967221-41967221 G>T_SQLSLVSMCKESHKCSEPKMEWKVK
14:70477638-70477638 C>T	0.0	4359	COLON	-	-	ID=COSM1515895;OCCURENCE=1(lung)	-	SMOC1	ENST00000381280,p.R278C|ENST00000361956,p.R278C|NM_001034852,p.R278C|uc001xlt.2,p.R278C|uc001xls.2,p.R278C|NM_022137,p.R278C	retained_intron, protein_coding, processed_transcript	uc001xlt.2	nonsynonymous SNV	exon8	c.C832T	p.R278C	TGYCWCVLVDTGRPLPGTSTRYVMP	TGYCWCVLVDTGCPLPGTSTRYVMP	3.0	10.0	-	-	4359_14:70477638-70477638 C>T_TGYCWCVLVDTGCPLPGTSTRYVMP
X:109695167-109695167 T>G	0.0	4359	COLON	-	-	-	-	RGAG1	ENST00000465301,p.L441R|uc011msr.1,p.L441R|uc004eor.2,p.L441R|ENST00000540313,p.L441R|NM_020769,p.L441R	protein_coding	uc011msr.1	nonsynonymous SNV	exon3	c.T1322G	p.L441R	KTVPASGAMTTSLMTVPSSGVMSTE	KTVPASGAMTTSRMTVPSSGVMSTE	1.0	7.0	-	-	4359_X:109695167-109695167 T>G_KTVPASGAMTTSRMTVPSSGVMSTE
11:60170391-60170391 G>T	0.0	4359	COLON	-	-	-	-	MS4A14	ENST00000527841,p.G92C|ENST00000526375,p.G92C|ENST00000395005,p.G92C|uc031qbe.1,p.G92C|NM_001261827,p.G92C|NM_001079692,p.G92C|ENST00000530662,p.G92C|uc001npk.3,p.G92C	protein_coding, nonsense_mediated_decay	uc031qbe.1	nonsynonymous SNV	exon3	c.G274T	p.G92C	TGYPFWGALIGQGVTGMNVISSLVA	TGYPFWGALIGQCVTGMNVISSLVA	3.0	10.0	-	-	4359_11:60170391-60170391 G>T_TGYPFWGALIGQCVTGMNVISSLVA
4:159526272-159526272 T>C	0.0	4359	COLON	-	-	-	-	RXFP1	ENST00000342048,p.Y149H	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000342048	nonsynonymous SNV	exon5	c.T445C	p.Y149H	LIRKLPPDCFKNYHDLQKLTL	LIRKLPPDCFKNHHDLQKLTL	3.0	10.0	unscreened	-	4359_4:159526272-159526272 T>C_LIRKLPPDCFKNHHDLQKLTL
19:10624631-10624631 G>A	0.0	4359	COLON	-	-	-	-	S1PR5	NM_001166215,p.P353S|uc002mot.2,p.P353S|uc002mou.2,p.P353S|NM_030760,p.P353S|ENST00000333430,p.P353S|uc021uox.1,p.P353S|ENST00000439028,p.P353S	protein_coding	uc021uox.1	nonsynonymous SNV	exon1	c.C1057T	p.P353S	AAEASGGLRRCLPPGLDGSFSGSER	AAEASGGLRRCLSPGLDGSFSGSER	2.0	9.0	-	-	4359_19:10624631-10624631 G>A_AAEASGGLRRCLSPGLDGSFSGSER
X:79698888-79698888 C>A	0.0	4359	COLON	-	-	-	-	FAM46D	ENST00000308293,p.L284I|ENST00000538312,p.L284I|uc004edl.1,p.L284I|NM_001170574,p.L284I|NM_152630,p.L284I|uc022bzm.1,p.L284I|uc004edm.2,p.L284I	protein_coding	uc022bzm.1	nonsynonymous SNV	exon1	c.C850A	p.L284I	HIEEQQKKIESYLHNHFIGEGMTKY	HIEEQQKKIESYIHNHFIGEGMTKY	1.0	9.0	-	-	4359_X:79698888-79698888 C>A_HIEEQQKKIESYIHNHFIGEGMTKY
X:46387868-46387874 CCAACTA>-	0.0	4359	COLON	-	-	-	-	ZNF674	ENST00000523374,p.L50fs|ENST00000518708,p.L50fs|uc011mlg.2,p.L50fs|NM_001146291,p.L50fs|NM_001039891,p.L50fs|uc010nhm.2,p.L50fs|NM_001190417,p.L50fs|ENST00000414387,p.L50fs|uc004dgr.3,p.L50fs|uc022bvl.1,p.L50fs	retained_intron, protein_coding, processed_transcript	uc022bvl.1	frameshift deletion	exon5	c.149_155del	p.L50fs	LENYSHLVSVGHLVGKPDVIFRLGPG	LENYSHLVSVGHRSQM	7.0	3.0	-	-	4359_X:46387868-46387874 CCAACTA>-_LENYSHLVSVGHRSQM
17:42854585-42854585 G>A	0.0	4359	COLON	-	-	-	-	ADAM11	NM_002390,p.R578H|uc010wjd.2,p.R378H|ENST00000587773,p.R472H|ENST00000200557,p.R578H|uc002ihh.3,p.R578H|ENST00000535346,p.R378H	retained_intron, protein_coding, nonsense_mediated_decay	uc010wjd.2	nonsynonymous SNV	exon21	c.G1133A	p.R378H	FCYEKLNVEGTERGSCGRKGSGWVQ	FCYEKLNVEGTEHGSCGRKGSGWVQ	1.0	10.0	-	-	4359_17:42854585-42854585 G>A_FCYEKLNVEGTEHGSCGRKGSGWVQ
2:74479406-74479406 C>T	0.0	4359	COLON	-	-	-	-	SLC4A5	ENST00000346834,p.G460S|NM_133478,p.G460S|ENST00000377634,p.G460S|NM_021196,p.G460S|ENST00000394019,p.G460S|uc002sks.1,p.G460S|uc010ffc.1,p.G460S|uc002sko.1,p.G460S|ENST00000358683,p.G396S|uc002skn.3,p.G460S|ENST00000359484,p.G396S|uc002skp.1,p.G396S|ENST00000423644,p.G460S|ENST00000377632,p.G460S|ENST00000357822,p.G460S|ENST00000425249,p.G460S	retained_intron, protein_coding, processed_transcript	uc010ffc.1	nonsynonymous SNV	exon11	c.G1378A	p.G460S	GGNGGGGGGGSGGGAGSGGAGGTSS	GGNGGGGGGGSGSGAGSGGAGGTSS	4.0	10.0	-	-	4359_2:74479406-74479406 C>T_GGNGGGGGGGSGSGAGSGGAGGTSS
10:29840171-29840171 T>C	1.0	4359	COLON	-	-	-	-	SVIL	ENST00000375398,p.E61G|uc009xld.1,p.E61G|ENST00000375400,p.E61G|NM_021738,p.E61G|ENST00000355867,p.E61G|uc001iuu.1,p.E61G|uc031ptq.1,p.E61G|uc001iut.1,p.E61G|NM_003174,p.E61G	protein_coding, processed_transcript	uc031ptq.1	nonsynonymous SNV	exon3	c.A182G	p.E61G	ASPHIGRSNEEEETSDSSLEKQTRS	ASPHIGRSNEEEGTSDSSLEKQTRS	7.0	10.0	-	-	4359_10:29840171-29840171 T>C_ASPHIGRSNEEEGTSDSSLEKQTRS
X:86890570-86890570 G>T	0.0	4359	COLON	-	-	-	-	KLHL4	NM_019117,p.A574S|uc004efb.2,p.A574S|ENST00000373119,p.A574S|ENST00000373114,p.A574S|uc004efa.2,p.A574S|NM_057162,p.A574S	protein_coding	uc004efb.2	nonsynonymous SNV	exon9	c.G1720T	p.A574S	TVGVVALNNKLYAIGGRDGSSCLKS	TVGVVALNNKLYSIGGRDGSSCLKS	2.0	9.0	-	-	4359_X:86890570-86890570 G>T_TVGVVALNNKLYSIGGRDGSSCLKS
19:14991674-14991674 C>A	0.0	4359	COLON	-	-	-	-	OR7A17	ENST00000327462,p.W165L|NM_030901,p.W165L|uc010xob.2,p.W165L	protein_coding	uc010xob.2	nonsynonymous SNV	exon1	c.G494T	p.W165L	ALNSLSQSLMVLWLSFCTDLEIPHF	ALNSLSQSLMVLLLSFCTDLEIPHF	1.0	9.0	-	-	4359_19:14991674-14991674 C>A_ALNSLSQSLMVLLLSFCTDLEIPHF
11:92531479-92531479 C>A	0.0	4359	COLON	-	-	-	2	FAT3	ENST00000409404,p.P1767Q|ENST00000525166,p.P1617Q|NM_001008781,p.P1767Q|uc001pdj.4,p.P1767Q|ENST00000298047,p.P1767Q	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon9	c.C5300A	p.P1767Q	VNIQIVDENDNAPVFLFSQYSGSLS	VNIQIVDENDNAQVFLFSQYSGSLS	3.0	7.0	-	-	4359_11:92531479-92531479 C>A_VNIQIVDENDNAQVFLFSQYSGSLS
4:185683568-185683568 C>A	1.0	4359	COLON	-	-	ID=COSM1244148;OCCURENCE=1(oesophagus)	-	ACSL1	uc011ckm.1,p.W373L|NM_001286711,p.W510L|uc003iws.1,p.W104L|uc011ckn.1,p.W510L|ENST00000507295,p.W510L|uc003iww.2,p.W544L|NM_001286712,p.W373L|uc003iwt.1,p.W544L|ENST00000437665,p.W373L|uc003iwu.1,p.W544L|ENST00000503407,p.W140L|ENST00000281455,p.W544L|ENST00000454703,p.W373L|NM_001995,p.W544L|ENST00000513317,p.W544L|ENST00000504342,p.W544L|NM_001286708,p.W544L|NM_001286710,p.W544L|ENST00000515030,p.W544L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ckn.1	nonsynonymous SNV	exon16	c.G1529T	p.W510L	KDGWLHTGDIGKWLPNGTLKIIDRK	KDGWLHTGDIGKLLPNGTLKIIDRK	6.0	6.0	unscreened	-	4359_4:185683568-185683568 C>A_KDGWLHTGDIGKLLPNGTLKIIDRK
1:233802675-233802675 T>G	0.0	4359	COLON	-	-	-	-	KCNK1	uc010pxo.1,p.D230E|NM_002245,p.D230E|ENST00000366621,p.D230E|ENST00000446915,p.D148E|ENST00000366620,p.D114E	protein_coding, processed_transcript	uc010pxo.1	nonsynonymous SNV	exon2	c.T690G	p.D230E	FCFISLSTIGLGDYVPGEGYNQKFR	FCFISLSTIGLGEYVPGEGYNQKFR	3.0	1.0	-	-	4359_1:233802675-233802675 T>G_FCFISLSTIGLGEYVPGEGYNQKFR
7:1542780-1542780 C>A	1.0	4359	COLON	-	-	-	-	INTS1	uc003skn.2,p.A36S|uc003skq.2,p.A36S|NM_001080453,p.A36S|ENST00000404767,p.A36S|ENST00000389470,p.A164S	retained_intron, protein_coding, processed_transcript	uc003skq.2	nonsynonymous SNV	exon3	c.G106T	p.A36S	PGDFIALGSKGQANESKTASTLLKP	PGDFIALGSKGQSNESKTASTLLKP	7.0	9.0	-	-	4359_7:1542780-1542780 C>A_PGDFIALGSKGQSNESKTASTLLKP
6:33177715-33177715 G>A	1.0	4359	COLON	-	-	-	-	RING1	NM_002931,p.R88Q|uc011dqx.1,p.R88Q|uc003odk.3,p.R88Q|uc003odl.3,p.R59Q|ENST00000374656,p.R88Q	protein_coding, processed_transcript	uc011dqx.1	nonsynonymous SNV	exon4	c.G263A	p.R88Q	ALRSGNKECPTCRKKLVSKRSLRPD	ALRSGNKECPTCQKKLVSKRSLRPD	7.0	9.0	-	-	4359_6:33177715-33177715 G>A_ALRSGNKECPTCQKKLVSKRSLRPD
9:130486550-130486550 T>C	0.0	4359	COLON	-	-	-	-	TTC16	uc011mai.1,p.Y329H|ENST00000393748,p.Y166H|uc004brr.1,p.Y287H|NM_144965,p.Y342H|ENST00000373289,p.Y342H|uc004brq.1,p.Y342H	protein_coding, processed_transcript	uc011mai.1	nonsynonymous SNV	exon8	c.T985C	p.Y329H	LLLTYNDFAVHCYRQGAYQEGVLLL	LLLTYNDFAVHCHRQGAYQEGVLLL	3.0	8.0	-	-	4359_9:130486550-130486550 T>C_LLLTYNDFAVHCHRQGAYQEGVLLL
12:113603498-113603498 A>T	0.0	4359	COLON	-	-	-	-	DDX54	uc001tup.3,p.L557Q|NM_024072,p.L557Q|ENST00000314045,p.L557Q|ENST00000306014,p.L557Q|NM_001111322,p.L557Q|uc001tuq.4,p.L557Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tuq.4	nonsynonymous SNV	exon14	c.T1670A	p.L557Q	HPLFSSRFEEEELQRLRLVDSIKNY	HPLFSSRFEEEEQQRLRLVDSIKNY	7.0	3.0	-	-	4359_12:113603498-113603498 A>T_HPLFSSRFEEEEQQRLRLVDSIKNY
6:30573808-30573808 C>T	1.0	4359	COLON	-	-	-	-	PPP1R10	uc003nqn.2,p.V249I|NM_002714,p.V249I|ENST00000376511,p.V249I	retained_intron, protein_coding, processed_transcript	uc003nqn.2	nonsynonymous SNV	exon10	c.G745A	p.V249I	NLKPIPLKRQSNVAAPGDATPPAEK	NLKPIPLKRQSNIAAPGDATPPAEK	8.0	1.0	-	-	4359_6:30573808-30573808 C>T_NLKPIPLKRQSNIAAPGDATPPAEK
1:152733521-152733521 C>A	0.0	4359	COLON	-	-	-	-	KPRP	uc001fal.1,p.P486Q|uc021ozf.1,p.P486Q|NM_001025231,p.P486Q|ENST00000368773,p.P486Q|ENST00000606109,p.P486Q	protein_coding	uc021ozf.1	nonsynonymous SNV	exon1	c.C1457A	p.P486Q	PRPEPIPLPAPCPSPEPCRETWRSP	PRPEPIPLPAPCQSPEPCRETWRSP	1.0	6.0	unscreened	-	4359_1:152733521-152733521 C>A_PRPEPIPLPAPCQSPEPCRETWRSP
11:62156681-62156681 G>A	0.0	4359	COLON	-	-	-	-	ASRGL1	ENST00000301776,p.V190I|NM_025080,p.V190I|uc001nte.4,p.V190I|NM_001083926,p.V190I|ENST00000535727,p.V62I|uc001ntg.4,p.V62I|ENST00000415229,p.V190I|uc001ntf.4,p.V190I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ntg.4	nonsynonymous SNV	exon4	c.G184A	p.V62I	GNVAYATSTGGIVNKMVGRVGDSPC	GNVAYATSTGGIINKMVGRVGDSPC	5.0	8.0	-	-	4359_11:62156681-62156681 G>A_GNVAYATSTGGIINKMVGRVGDSPC
7:128494542-128494542 A>G	0.0	4359	COLON	-	-	-	-	FLNC	uc003vnz.4,p.E2268G|NM_001127487,p.E2235G|uc003voa.4,p.E2235G|ENST00000346177,p.E2235G|NM_001458,p.E2268G|ENST00000325888,p.E2268G	retained_intron, protein_coding	uc003voa.4	nonsynonymous SNV	exon40	c.A6704G	p.E2235G	SPSGKVEAAEIVEGEDSAYSVRFVP	SPSGKVEAAEIVGGEDSAYSVRFVP	6.0	2.0	-	-	4359_7:128494542-128494542 A>G_SPSGKVEAAEIVGGEDSAYSVRFVP
20:9404444-9404444 A>C	0.0	4359	COLON	-	-	-	-	PLCB4	ENST00000334005,p.N778T|ENST00000278655,p.N778T|NM_001172646,p.N790T|uc021wam.1,p.N778T|uc002wnh.3,p.N625T|uc010gbx.3,p.N790T|NM_000933,p.N778T|NM_182797,p.N778T|ENST00000378473,p.N790T|uc010gbw.1,p.N778T|ENST00000378501,p.N778T|uc021wal.1,p.N778T|ENST00000378493,p.N778T|ENST00000414679,p.N790T	protein_coding, processed_transcript	uc021wam.1	nonsynonymous SNV	exon24	c.A2333C	p.N778T	DLAVLRIAVYDDNNKLIGQRILPLD	DLAVLRIAVYDDTNKLIGQRILPLD	8.0	1.0	-	-	4359_20:9404444-9404444 A>C_DLAVLRIAVYDDTNKLIGQRILPLD
7:126409983-126409983 A>-	0.0	4359	COLON	-	-	-	-	GRM8	ENST00000339582,p.C431fs|uc003vlu.1,p.C152fs|uc003vlr.2,p.C431fs|NM_000845,p.C431fs|ENST00000358373,p.C431fs|ENST00000405249,p.C431fs|ENST00000444921,p.C431fs|uc003vlt.2,p.C431fs|NM_001127323,p.C431fs|ENST00000341617,p.C431fs|ENST00000472701,p.C431fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vlu.1	frameshift deletion	exon7	c.456delT	p.C152fs	MHKDLCPGYIGLCPRMSTIDGKELLG	MHKDLCPGYIGLCHE	4.0	9.0	-	-	4359_7:126409983-126409983 A>-_MHKDLCPGYIGLCHE
X:68725612-68725612 G>C	0.0	4359	COLON	-	-	-	-	FAM155B	NM_015686,p.A163P|uc004dxk.3,p.A163P|ENST00000252338,p.A163P	protein_coding	uc004dxk.3	nonsynonymous SNV	exon1	c.G487C	p.A163P	QSLQRLFEPTTPAPPLRPPDSLSRA	QSLQRLFEPTTPPPPLRPPDSLSRA	1.0	10.0	unscreened	-	4359_X:68725612-68725612 G>C_QSLQRLFEPTTPPPPLRPPDSLSRA
1:92442915-92442915 G>A	0.0	4359	COLON	-	-	ID=COSM171492;OCCURENCE=1(central_nervous_system),2(large_intestine)	-	BRDT	NM_001242807,p.V266I|ENST00000402388,p.V312I|NM_001242806,p.V316I|uc009wdf.3,p.V239I|ENST00000370389,p.V239I|ENST00000362005,p.V312I|NM_207189,p.V312I|uc001dom.4,p.V312I|uc001dol.4,p.V312I|ENST00000399546,p.V312I|uc010osz.2,p.V316I|ENST00000394530,p.V266I|NM_001726,p.V312I|uc010otb.2,p.V266I|NM_001242808,p.V266I|NM_001242805,p.V312I|NM_001242810,p.V239I|ENST00000426141,p.V312I|uc001dok.4,p.V312I|uc010ota.2,p.V266I	protein_coding, processed_transcript	uc010otb.2	nonsynonymous SNV	exon5	c.G796A	p.V266I	DVNALGLHNYYDVVKNPMDLGTIKE	DVNALGLHNYYDIVKNPMDLGTIKE	1.0	7.0	-	-	4359_1:92442915-92442915 G>A_DVNALGLHNYYDIVKNPMDLGTIKE
13:38320084-38320084 C>T	0.0	4359	COLON	-	-	-	-	TRPC4	ENST00000488717,p.R296H	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000488717	nonsynonymous SNV	exon2	c.G887A	p.R296H	NDLARLKLAIKYRQKEASYGEKLNR	NDLARLKLAIKYHQKEASYGEKLNR	2.0	8.0	unscreened	-	4359_13:38320084-38320084 C>T_NDLARLKLAIKYHQKEASYGEKLNR
19:6381014-6381014 C>T	1.0	4359	COLON	-	-	-	-	GTF2F1	ENST00000429701,p.G293R|uc010xjb.1,p.G199R|uc010xjc.1,p.G293R|ENST00000593678,p.G294R|ENST00000394456,p.G378R|NM_002096,p.G378R|uc002meq.2,p.G378R	retained_intron, protein_coding	uc010xjc.1	nonsynonymous SNV	exon8	c.G877A	p.G293R	KKTPPKRERKPSGGSSRGNSRPGTP	KKTPPKRERKPSRGSSRGNSRPGTP	7.0	8.0	-	-	4359_19:6381014-6381014 C>T_KKTPPKRERKPSRGSSRGNSRPGTP
4:185683569-185683569 A>C	1.0	4359	COLON	-	-	-	-	ACSL1	uc003iws.1,p.W104G|uc003iwu.1,p.W544G|uc011ckn.1,p.W510G|NM_001286710,p.W544G|NM_001286708,p.W544G|uc011ckm.1,p.W373G|ENST00000503407,p.W140G|ENST00000437665,p.W373G|NM_001995,p.W544G|ENST00000513317,p.W544G|ENST00000515030,p.W544G|ENST00000504342,p.W544G|uc003iwt.1,p.W544G|NM_001286711,p.W510G|ENST00000507295,p.W510G|ENST00000281455,p.W544G|NM_001286712,p.W373G|uc003iww.2,p.W544G|ENST00000454703,p.W373G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ckn.1	nonsynonymous SNV	exon16	c.T1528G	p.W510G	KDGWLHTGDIGKWLPNGTLKIIDRK	KDGWLHTGDIGKGLPNGTLKIIDRK	6.0	6.0	unscreened	-	4359_4:185683569-185683569 A>C_KDGWLHTGDIGKGLPNGTLKIIDRK
X:54818365-54818365 C>A	0.0	4359	COLON	-	-	-	-	ITIH6	NM_198510,p.G121V|uc004dtj.2,p.G121V|ENST00000218436,p.G121V	protein_coding, processed_transcript	uc004dtj.2	nonsynonymous SNV	exon3	c.G362T	p.G121V	EAHQQGKTAAHVGIRDRESEKFRIS	EAHQQGKTAAHVVIRDRESEKFRIS	1.0	6.0	unscreened	-	4359_X:54818365-54818365 C>A_EAHQQGKTAAHVVIRDRESEKFRIS
19:18174711-18174711 C>G	0.0	4359	COLON	-	-	-	-	IL12RB1	uc002nhw.1,p.W531C|ENST00000593993,p.W531C|NM_001290023,p.W531C|ENST00000600835,p.W531C|NM_001290024,p.W571C|uc010xqb.1,p.W531C|uc002nhx.1,p.W571C|ENST00000430026,p.W531C|NM_005535,p.W531C	retained_intron, protein_coding	uc010xqb.1	nonsynonymous SNV	exon13	c.G1593C	p.W531C	QVRADTAWLRGVWSQPQRFSIEVQV	QVRADTAWLRGVCSQPQRFSIEVQV	4.0	7.0	-	-	4359_19:18174711-18174711 C>G_QVRADTAWLRGVCSQPQRFSIEVQV
10:19981482-19981482 A>G	1.0	4359	COLON	-	-	-	-	MALRD1	ENST00000454679,p.R1422G|ENST00000377266,p.R1435G|NM_001142308,p.R2105G|ENST00000455457,p.R299G|uc010qcr.1,p.R62G	protein_coding, processed_transcript	uc010qcr.1	nonsynonymous SNV	exon3	c.A184G	p.R62G	VLCFLANRKVPIRKTEGSGNCAFVN	VLCFLANRKVPIGKTEGSGNCAFVN	10.0	5.0	unscreened	-	4359_10:19981482-19981482 A>G_VLCFLANRKVPIGKTEGSGNCAFVN
2:121746476-121746476 G>A	0.0	4359	COLON	-	-	-	-	GLI2	uc002tmq.1,p.G668S|NM_005270,p.G996S|uc002tmt.4,p.G668S|ENST00000361492,p.G996S|uc010flp.3,p.G996S|uc002tmr.1,p.G651S|uc002tmu.4,p.G651S|ENST00000452319,p.G996S|ENST00000314490,p.G668S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010flp.3	nonsynonymous SNV	exon13	c.G2986A	p.G996S	VQRFHSTHNVNPGPLPPCADRRGLR	VQRFHSTHNVNPSPLPPCADRRGLR	6.0	6.0	-	-	4359_2:121746476-121746476 G>A_VQRFHSTHNVNPSPLPPCADRRGLR
1:237947977-237947977 C>A	0.0	4359	COLON	-	-	-	-	RYR2	uc001hyl.1,p.A4322D|uc010pya.2,p.A737D|ENST00000360064,p.A4328D|ENST00000366574,p.A4322D|NM_001035,p.A4322D|ENST00000542537,p.A4306D	protein_coding, processed_transcript	uc010pya.2	nonsynonymous SNV	exon16	c.C2210A	p.A737D	CSLLLGGSLVEGAKKIKVAELLANM	CSLLLGGSLVEGDKKIKVAELLANM	4.0	8.0	-	-	4359_1:237947977-237947977 C>A_CSLLLGGSLVEGDKKIKVAELLANM
2:130948175-130948175 G>C	1.0	4359	COLON	-	-	-	-	MZT2B	ENST00000409255,p.K211N|ENST00000457492,p.K114N|uc002tqu.3,p.K151N|ENST00000281871,p.K151N|NM_025029,p.K151N	retained_intron, protein_coding, processed_transcript	uc002tqu.3	nonsynonymous SNV	exon3	c.G453C	p.K151N	SATRLPKGGGPGKSPTRGST	SATRLPKGGGPGNSPTRGST	10.0	8.0	-	-	4359_2:130948175-130948175 G>C_SATRLPKGGGPGNSPTRGST
13:38320084-38320084 C>T	0.0	4359	COLON	-	-	-	-	TRPC4	uc010abx.3,p.R296H|ENST00000426868,p.R296H|NM_001135956,p.R296H|NM_001135957,p.R296H|NM_003306,p.R296H|ENST00000447043,p.R296H|uc010aby.3,p.R296H|ENST00000379705,p.R296H|ENST00000358477,p.R296H|NM_016179,p.R296H|ENST00000379681,p.R296H|uc010tey.2,p.R296H|NM_001135955,p.R296H|uc001uwt.3,p.R296H|ENST00000355779,p.R296H|ENST00000379673,p.R296H|uc001uws.3,p.R296H	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tey.2	nonsynonymous SNV	exon3	c.G887A	p.R296H	NDLARLKLAIKYRQKEFVAQPNCQQ	NDLARLKLAIKYHQKEFVAQPNCQQ	2.0	8.0	-	-	4359_13:38320084-38320084 C>T_NDLARLKLAIKYHQKEFVAQPNCQQ
5:126738272-126738272 G>T	0.0	4359	COLON	-	-	-	-	MEGF10	uc010jdd.1,p.R272L|ENST00000274473,p.R272L|uc010jdc.1,p.R272L|ENST00000503335,p.R272L|ENST00000418761,p.R272L|ENST00000508365,p.R272L|NM_032446,p.R272L|uc003kui.4,p.R272L|uc003kuh.4,p.R272L|NM_001256545,p.R272L	retained_intron, protein_coding, processed_transcript	uc010jdd.1	nonsynonymous SNV	exon8	c.G815T	p.R272L	MGTVCGQPCPEGRFGKNCSQECQCH	MGTVCGQPCPEGLFGKNCSQECQCH	4.0	7.0	-	-	4359_5:126738272-126738272 G>T_MGTVCGQPCPEGLFGKNCSQECQCH
X:54818366-54818366 C>A	0.0	4359	COLON	-	-	-	-	ITIH6	NM_198510,p.G121C|ENST00000218436,p.G121C|uc004dtj.2,p.G121C	protein_coding, processed_transcript	uc004dtj.2	nonsynonymous SNV	exon3	c.G361T	p.G121C	EAHQQGKTAAHVGIRDRESEKFRIS	EAHQQGKTAAHVCIRDRESEKFRIS	1.0	6.0	unscreened	-	4359_X:54818366-54818366 C>A_EAHQQGKTAAHVCIRDRESEKFRIS
1:201058507-201058507 T>G	0.0	4359	COLON	-	-	-	-	CACNA1S	NM_000069,p.E260A|ENST00000362061,p.E260A|uc001gvv.3,p.E260A|ENST00000367338,p.E260A	protein_coding	uc001gvv.3	nonsynonymous SNV	exon6	c.A779C	p.E260A	TGSGRRCTINGSECRGGWPGPNHGI	TGSGRRCTINGSACRGGWPGPNHGI	2.0	3.0	-	-	4359_1:201058507-201058507 T>G_TGSGRRCTINGSACRGGWPGPNHGI
1:76877808-76877808 C>G	0.0	4359	COLON	-	-	-	-	ST6GALNAC3	NM_001160011,p.A110G|uc010orh.1,p.A45G|NM_152996,p.A110G|uc001dhh.2,p.A110G|uc001dhg.4,p.A110G|ENST00000328299,p.A110G	protein_coding, processed_transcript	uc010orh.1	nonsynonymous SNV	exon2	c.C134G	p.A45G	IDRSSCIWRMNNAPTKGYEEDVGRM	IDRSSCIWRMNNGPTKGYEEDVGRM	4.0	7.0	-	-	4359_1:76877808-76877808 C>G_IDRSSCIWRMNNGPTKGYEEDVGRM
11:49053835-49053835 T>C	0.0	4359	COLON	-	-	-	-	TRIM49B	NM_001206626,p.L140P|uc021qix.1,p.L140P|ENST00000332682,p.L140P	protein_coding	uc021qix.1	nonsynonymous SNV	exon2	c.T419C	p.L140P	PIESAAEEHQEKLLQKMQSLWEKAC	PIESAAEEHQEKPLQKMQSLWEKAC	3.0	4.0	-	-	4359_11:49053835-49053835 T>C_PIESAAEEHQEKPLQKMQSLWEKAC
17:66391268-66391268 A>C	0.0	4359	COLON	-	-	-	-	ARSG	ENST00000452479,p.Q218H|NM_014960,p.Q382H|ENST00000448504,p.Q382H|uc031ree.1,p.Q382H|NM_001267727,p.Q382H|uc002jhc.2,p.Q382H	retained_intron, protein_coding, processed_transcript	uc031ree.1	nonsynonymous SNV	exon10	c.A1146C	p.Q382H	PTVVALAQASLPQGRRFDGVDVSEV	PTVVALAQASLPHGRRFDGVDVSEV	4.0	2.0	-	-	4359_17:66391268-66391268 A>C_PTVVALAQASLPHGRRFDGVDVSEV
3:40457443-40457443 T>C	0.0	4359	COLON	-	-	-	-	ENTPD3	NM_001291960,p.L237P|NM_001291961,p.L237P|ENST00000456402,p.L237P|ENST00000301825,p.L237P|uc003ckd.4,p.L237P|uc010hhy.3,p.L237P|ENST00000445129,p.L237P|NM_001248,p.L237P	protein_coding	uc010hhy.3	nonsynonymous SNV	exon7	c.T710C	p.L237P	TQISFVAGEKMDLNTSDIMQVSLYG	TQISFVAGEKMDPNTSDIMQVSLYG	2.0	5.0	-	-	4359_3:40457443-40457443 T>C_TQISFVAGEKMDPNTSDIMQVSLYG
14:70518708-70518708 T>G	0.0	4359	COLON	-	-	-	-	SLC8A3	uc001xly.3,p.K677T|uc001xlx.3,p.K675T|uc001xlz.3,p.K671T|NM_033262,p.K675T|ENST00000394330,p.K34T|ENST00000357887,p.K675T|uc001xlv.3,p.K48T|NM_182932,p.K671T|uc001xlw.3,p.K674T|ENST00000534137,p.K674T|NM_182936,p.K34T|ENST00000216568,p.K48T|ENST00000381269,p.K677T|NM_183002,p.K677T|ENST00000533541,p.K34T|uc001xma.2,p.K34T|ENST00000528359,p.K675T|NM_001130417,p.K48T|NM_058240,p.K674T|uc001xlu.3,p.K34T|ENST00000356921,p.K671T	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xma.2	nonsynonymous SNV	exon2	c.A101C	p.K34T	KLEVIIEESYEFKTTVDKLIKKTNL	KLEVIIEESYEFTTTVDKLIKKTNL	1.0	4.0	-	-	4359_14:70518708-70518708 T>G_KLEVIIEESYEFTTTVDKLIKKTNL
9:125315599-125315599 A>T	0.0	4359	COLON	-	-	-	-	OR1N2	uc011lyx.2,p.M51L|ENST00000373688,p.M51L|NM_001004457,p.M51L	protein_coding	uc011lyx.2	nonsynonymous SNV	exon1	c.A151T	p.M51L	EEQPLLFGIFLGMYLVTMVGNLLII	EEQPLLFGIFLGLYLVTMVGNLLII	1.0	5.0	unscreened	-	4359_9:125315599-125315599 A>T_EEQPLLFGIFLGLYLVTMVGNLLII
17:15640806-15640806 A>C	0.0	4359	COLON	-	rs200208182	-	-	TBC1D26	ENST00000437605,p.E56A|ENST00000469477,p.E56A|ENST00000579428,p.E56A|uc010cou.1,p.E56A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cou.1	nonsynonymous SNV	exon5	c.A167C	p.E56A	KYTNNLGIVHEMELPHVSALEVKQR	KYTNNLGIVHEMALPHVSALEVKQR	3.0	3.0	unscreened	-	4359_17:15640806-15640806 A>C_KYTNNLGIVHEMALPHVSALEVKQR
X:91134092-91134092 G>T	0.0	4359	COLON	-	-	-	-	PCDH11X	ENST00000406881,p.Q951H|uc004efh.2,p.Q951H|uc004efj.1,p.Q951H|uc004efn.2,p.Q951H|uc004efl.2,p.Q951H|NM_001168360,p.Q951H|uc010nmv.2,p.Q951H|ENST00000298274,p.Q951H|NM_032969,p.Q951H|ENST00000361655,p.Q951H|NM_001168361,p.Q951H|ENST00000373088,p.Q951H|NM_001168363,p.Q951H|ENST00000504220,p.Q951H|uc004efo.2,p.Q951H|ENST00000373097,p.Q951H|ENST00000373094,p.Q951H|uc004efk.2,p.Q951H|ENST00000395337,p.Q951H|uc004efm.2,p.Q951H|NM_032968,p.Q951H|NM_001168362,p.Q951H|ENST00000361724,p.Q951H	protein_coding	uc010nmv.2	nonsynonymous SNV	exon2	c.G2853T	p.Q951H	YKSASPQPAFQIQPETPLNSKHHII	YKSASPQPAFQIHPETPLNSKHHII	3.0	6.0	-	-	4359_X:91134092-91134092 G>T_YKSASPQPAFQIHPETPLNSKHHII
7:100807559-100807559 G>A	0.0	4359	COLON	-	-	-	-	VGF	ENST00000249330,p.T189M|uc022aiz.1,p.T189M|ENST00000445482,p.T189M|NM_003378,p.T189M|uc003uxx.4,p.T189M	protein_coding	uc022aiz.1	nonsynonymous SNV	exon1	c.C566T	p.T189M	QQETAAAETETRTHTLTRVNLESPG	QQETAAAETETRMHTLTRVNLESPG	3.0	3.0	-	-	4359_7:100807559-100807559 G>A_QQETAAAETETRMHTLTRVNLESPG
21:31654844-31654844 C>G	0.0	4359	COLON	-	-	-	-	KRTAP24-1	NM_001085455,p.R136P|uc002ynv.3,p.R136P|ENST00000340345,p.R136P	protein_coding	uc002ynv.3	nonsynonymous SNV	exon1	c.G407C	p.R136P	TNGYVCNCHIPTRNASKACQTLRNG	TNGYVCNCHIPTPNASKACQTLRNG	1.0	7.0	-	-	4359_21:31654844-31654844 C>G_TNGYVCNCHIPTPNASKACQTLRNG
16:29825015-29825015 G>C	0.0	4359	COLON	-	-	-	-	PRRT2	NM_145239,p.A214P|NM_001256442,p.A214P|uc002due.4,p.A214P|ENST00000358758,p.A214P|uc002dud.3,p.A214P|ENST00000567659,p.A214P|uc002duf.2,p.A214P|uc031qvo.1,p.A214P|ENST00000300797,p.A214P|NM_001256443,p.A214P	protein_coding, processed_transcript	uc031qvo.1	nonsynonymous SNV	exon1	c.G640C	p.A214P	SPPSKKSPPANGAPPRVLQQLVEED	SPPSKKSPPANGPPPRVLQQLVEED	4.0	7.0	-	-	4359_16:29825015-29825015 G>C_SPPSKKSPPANGPPPRVLQQLVEED
10:28030428-28030428 C>T	0.0	4359	COLON	-	-	-	-	MKX	NM_001242702,p.R65Q|ENST00000460919,p.R65Q|NM_173576,p.R65Q|ENST00000419761,p.R65Q|uc001itx.4,p.R65Q|uc001ity.4,p.R65Q|ENST00000375790,p.R65Q	protein_coding	uc001ity.4	nonsynonymous SNV	exon3	c.G194A	p.R65Q	DNLGLRHRRTGARQNGGKVRHKRQA	DNLGLRHRRTGAQQNGGKVRHKRQA	1.0	7.0	-	-	4359_10:28030428-28030428 C>T_DNLGLRHRRTGAQQNGGKVRHKRQA
11:119206148-119206148 C>G	0.0	4359	COLON	-	-	-	-	RNF26	uc001pwh.3,p.H106D|NM_032015,p.H106D|ENST00000311413,p.H106D	protein_coding	uc001pwh.3	nonsynonymous SNV	exon1	c.C316G	p.H106D	LESLKLLGHLASHGALRSREILHRG	LESLKLLGHLASDGALRSREILHRG	5.0	6.0	-	-	4359_11:119206148-119206148 C>G_LESLKLLGHLASDGALRSREILHRG
11:57886148-57886148 A>T	0.0	4359	COLON	-	-	-	-	OR9I1	ENST00000302610,p.F257I|uc001nml.1,p.F257I|NM_001005211,p.F257I	protein_coding	uc001nml.1	nonsynonymous SNV	exon1	c.T769A	p.F257I	ITAVALFFGALIFMYLQSGSGKSLE	ITAVALFFGALIIMYLQSGSGKSLE	1.0	5.0	-	-	4359_11:57886148-57886148 A>T_ITAVALFFGALIIMYLQSGSGKSLE
X:140335700-140335700 T>A	0.0	4359	COLON	-	-	-	-	LDOC1,SPANXA2-OT1	ENST00000358993,p.M82L|uc004fbk.3,p.M82L	protein_coding	uc004fbk.3	nonsynonymous SNV	exon2	c.A244T	p.M82L	DHARENRINPLQMEEEEFMEIMVEI	DHARENRINPLQLEEEEFMEIMVEI	1.0	3.0	-	-	4359_X:140335700-140335700 T>A_DHARENRINPLQLEEEEFMEIMVEI
1:52940937-52940937 T>C	1.0	4359	COLON	-	-	-	-	ZCCHC11	NM_001009881,p.Q765R|ENST00000371544,p.Q765R|uc009vze.1,p.Q765R|uc001cub.3,p.Q765R|uc009vzf.1,p.Q524R|ENST00000484723,p.Q524R|ENST00000257177,p.Q765R|uc001ctx.2,p.Q765R|ENST00000528642,p.Q694R|NM_015269,p.Q765R|uc001cty.2,p.Q765R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vzf.1	nonsynonymous SNV	exon13	c.A1571G	p.Q524R	TEKINAEREQPVQCDEMDCTSQRCI	TEKINAEREQPVRCDEMDCTSQRCI	10.0	5.0	-	-	4359_1:52940937-52940937 T>C_TEKINAEREQPVRCDEMDCTSQRCI
6:165749684-165749684 G>A	0.0	4359	COLON	-	-	ID=COSM1672968;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	PDE10A	uc011egk.2,p.A652V|uc003qun.3,p.A722V|ENST00000366882,p.A722V|uc003quo.3,p.A732V|ENST00000354448,p.A722V|ENST00000539869,p.A732V|NM_001130690,p.A732V	protein_coding	uc011egk.2	nonsynonymous SNV	exon22	c.C1955T	p.A652V	DEVPQGQLGFYNAVAIPCYTTLTQI	DEVPQGQLGFYNVVAIPCYTTLTQI	3.0	5.0	-	-	4359_6:165749684-165749684 G>A_DEVPQGQLGFYNVVAIPCYTTLTQI
15:85400509-85400509 T>A	0.0	4359	COLON	-	-	-	-	ALPK3	NM_020778,p.V1049E|ENST00000258888,p.V1049E|uc002ble.3,p.V1049E	retained_intron, protein_coding	uc002ble.3	nonsynonymous SNV	exon6	c.T3146A	p.V1049E	PFQCPKEERPGGVPCMDQGGCPLAG	PFQCPKEERPGGEPCMDQGGCPLAG	3.0	7.0	-	-	4359_15:85400509-85400509 T>A_PFQCPKEERPGGEPCMDQGGCPLAG
9:125315601-125315601 G>A	0.0	4359	COLON	-	-	-	-	OR1N2	NM_001004457,p.M51I|ENST00000373688,p.M51I|uc011lyx.2,p.M51I	protein_coding	uc011lyx.2	nonsynonymous SNV	exon1	c.G153A	p.M51I	EEQPLLFGIFLGMYLVTMVGNLLII	EEQPLLFGIFLGIYLVTMVGNLLII	1.0	5.0	unscreened	-	4359_9:125315601-125315601 G>A_EEQPLLFGIFLGIYLVTMVGNLLII
1:44595102-44595102 A>C	0.0	4359	COLON	-	-	-	-	KLF17	uc009vxf.1,p.Q16H|NM_173484,p.Q53H|uc001clp.3,p.Q53H|ENST00000372299,p.Q53H	protein_coding, processed_transcript	uc009vxf.1	nonsynonymous SNV	exon3	c.A48C	p.Q16H	SSGSSGVHTSWNQGLPSIQHFPHSA	SSGSSGVHTSWNHGLPSIQHFPHSA	1.0	6.0	unscreened	-	4359_1:44595102-44595102 A>C_SSGSSGVHTSWNHGLPSIQHFPHSA
19:5844721-5844721 A>T	1.0	4359	COLON	-	-	-	-	FUT3	uc002mdj.2,p.S44T|NM_001097639,p.S44T|NM_001097641,p.S44T|NM_000149,p.S44T|ENST00000589620,p.S44T|ENST00000303225,p.S44T|ENST00000589918,p.S44T|ENST00000458379,p.S44T|uc002mdk.2,p.S44T|uc002mdm.2,p.S44T|uc002mdl.2,p.S44T|uc021unn.1,p.S44T|NM_001097640,p.S44T|ENST00000587048,p.S44T|ENST00000589714,p.S44T	protein_coding, processed_transcript	uc021unn.1	nonsynonymous SNV	exon1	c.T130A	p.S44T	SYLRVSRDDATGSPRAPSGSSRQDT	SYLRVSRDDATGTPRAPSGSSRQDT	5.0	6.0	-	-	4359_19:5844721-5844721 A>T_SYLRVSRDDATGTPRAPSGSSRQDT
11:5969497-5969497 G>T	0.0	4359	COLON	-	-	-	-	OR56A3	ENST00000329564,p.M307I|NM_001003443,p.M307I|uc010qzt.2,p.M307I	protein_coding	uc010qzt.2	nonsynonymous SNV	exon1	c.G921T	p.M307I	IYGVRTQEIKQGMQRLLKKGC	IYGVRTQEIKQGIQRLLKKGC	1.0	4.0	-	-	4359_11:5969497-5969497 G>T_IYGVRTQEIKQGIQRLLKKGC
20:52789634-52789634 T>A	0.0	4359	COLON	-	-	-	-	CYP24A1	ENST00000395955,p.E88V|NM_001128915,p.E88V|ENST00000216862,p.E88V|NM_000782,p.E88V|uc002xww.2,p.E88V|uc002xwv.2,p.E88V	protein_coding, processed_transcript	uc002xww.2	nonsynonymous SNV	exon2	c.A263T	p.E88V	KGGLKKQHDTLVEYHKKYGKIFRMK	KGGLKKQHDTLVVYHKKYGKIFRMK	5.0	2.0	-	-	4359_20:52789634-52789634 T>A_KGGLKKQHDTLVVYHKKYGKIFRMK
3:137807276-137807276 T>C	0.0	4359	COLON	-	-	-	-	DZIP1L	NM_001170538,p.E315G|ENST00000327532,p.E315G|NM_173543,p.E315G|uc003err.1,p.E315G|uc003erq.3,p.E315G|ENST00000469243,p.E315G	retained_intron, protein_coding, processed_transcript	uc003err.1	nonsynonymous SNV	exon7	c.A944G	p.E315G	SKLGSLRDEESEEWLRQARELQALR	SKLGSLRDEESEGWLRQARELQALR	4.0	2.0	-	-	4359_3:137807276-137807276 T>C_SKLGSLRDEESEGWLRQARELQALR
11:6977547-6977547 A>G	0.0	4359	COLON	-	-	-	-	ZNF215	uc001mey.3,p.S447G|ENST00000414517,p.S447G|uc010rax.2,p.S209G|uc010raw.3,p.S221G|ENST00000278319,p.S447G|NM_013250,p.S447G	protein_coding, processed_transcript	uc010rax.2	nonsynonymous SNV	exon5	c.A625G	p.S209G	CTSNKCGKAFSKSEDSNNPTLHFGN	CTSNKCGKAFSKGEDSNNPTLHFGN	5.0	4.0	-	-	4359_11:6977547-6977547 A>G_CTSNKCGKAFSKGEDSNNPTLHFGN
21:32617851-32617851 A>T	0.0	4359	COLON	-	-	-	-	TIAM1	uc002yox.1,p.F121I|ENST00000541036,p.F513I|uc002yow.1,p.F513I|uc011adk.1,p.F513I|NM_003253,p.F513I|ENST00000286827,p.F513I|uc011adl.1,p.F513I	retained_intron, protein_coding, processed_transcript	uc011adl.1	nonsynonymous SNV	exon4	c.T1537A	p.F513I	IVQAVPEHPKKDFVFCLSNSLGDAF	IVQAVPEHPKKDIVFCLSNSLGDAF	4.0	2.0	-	-	4359_21:32617851-32617851 A>T_IVQAVPEHPKKDIVFCLSNSLGDAF
20:30667621-30667621 T>C	0.0	4359	COLON	-	-	-	-	HCK	ENST00000375862,p.L157P|NM_001172130,p.L157P|NM_001172132,p.L138P|ENST00000520553,p.L137P|ENST00000538448,p.L137P|NM_001172129,p.L137P|NM_001172133,p.L137P|NM_002110,p.L158P|uc010gdy.3,p.L138P|NM_001172131,p.L136P|ENST00000375852,p.L158P|uc002wxi.3,p.L136P|uc002wxh.3,p.L158P|ENST00000518730,p.L136P|uc021wbv.1,p.L137P|ENST00000534862,p.L138P	retained_intron, protein_coding, nonsense_mediated_decay	uc021wbv.1	nonsynonymous SNV	exon7	c.T410C	p.L137P	FKGISRKDAERQLLAPGNMLGSFMI	FKGISRKDAERQPLAPGNMLGSFMI	5.0	3.0	-	-	4359_20:30667621-30667621 T>C_FKGISRKDAERQPLAPGNMLGSFMI
5:19721471-19721471 C>A	0.0	4359	COLON	-	-	-	-	CDH18	ENST00000274170,p.V210F|uc021xwu.1,p.V210F|ENST00000507958,p.V210F|NM_001291957,p.V210F|ENST00000502796,p.V210F|uc003jgd.3,p.V210F|uc003jgc.3,p.V210F|ENST00000382275,p.V210F|uc011cnm.2,p.V210F|NM_004934,p.V210F|ENST00000515257,p.V156F|ENST00000506372,p.V210F|NM_001167667,p.V210F|NM_001291956,p.V210F|ENST00000511273,p.V210F	protein_coding, processed_transcript	uc021xwu.1	nonsynonymous SNV	exon5	c.G628T	p.V210F	VYSILQGQPYFSVDPKTGVIRTALH	VYSILQGQPYFSFDPKTGVIRTALH	1.0	1.0	-	-	4359_5:19721471-19721471 C>A_VYSILQGQPYFSFDPKTGVIRTALH
20:62871116-62871116 T>A	0.0	4359	COLON	-	-	-	-	MYT1	uc002yii.3,p.S1033T|uc002yij.3,p.S692T|ENST00000536311,p.S1060T|NM_004535,p.S1033T|ENST00000328439,p.S1033T	protein_coding	uc002yij.3	nonsynonymous SNV	exon16	c.T2074A	p.S692T	MEAAMVQLQSQISSMEKNLKNIEEE	MEAAMVQLQSQITSMEKNLKNIEEE	5.0	3.0	-	-	4359_20:62871116-62871116 T>A_MEAAMVQLQSQITSMEKNLKNIEEE
19:621501-621501 C>A	1.0	4359	COLON	-	-	-	-	POLRMT	ENST00000588649,p.A733S|uc002lpf.1,p.A733S|NM_005035,p.A733S	retained_intron, protein_coding, processed_transcript	uc002lpf.1	nonsynonymous SNV	exon10	c.G2197T	p.A733S	FQAKGCPQLGVPAPPSEAPQPPEAH	FQAKGCPQLGVPSPPSEAPQPPEAH	9.0	4.0	-	-	4359_19:621501-621501 C>A_FQAKGCPQLGVPSPPSEAPQPPEAH
12:9906185-9906185 C>A	1.0	4359	COLON	-	-	-	-	CD69	uc001qwk.3,p.W164C|ENST00000228434,p.W164C|NM_001781,p.W164C	retained_intron, protein_coding	uc001qwk.3	nonsynonymous SNV	exon5	c.G492T	p.W164C	PWKWSNGKEFNNWFNVTGSDKCVFL	PWKWSNGKEFNNCFNVTGSDKCVFL	4.0	2.0	-	-	4359_12:9906185-9906185 C>A_PWKWSNGKEFNNCFNVTGSDKCVFL
12:42858412-42858412 T>C	0.0	4359	COLON	-	-	-	-	PRICKLE1	ENST00000455697,p.Q475R|uc001rnm.3,p.Q475R|NM_001144883,p.Q475R|NM_001144881,p.Q475R|ENST00000548696,p.Q475R|NM_153026,p.Q475R|uc001rnl.3,p.Q475R|uc010skv.2,p.Q475R|NM_001144882,p.Q475R|ENST00000345127,p.Q475R|ENST00000445766,p.Q475R|uc010skw.2,p.Q475R|ENST00000552240,p.Q475R	protein_coding, processed_transcript	uc010skw.2	nonsynonymous SNV	exon7	c.A1424G	p.Q475R	ASKKYQSDMYWAQSQDGLGDSAYGS	ASKKYQSDMYWARSQDGLGDSAYGS	4.0	4.0	-	-	4359_12:42858412-42858412 T>C_ASKKYQSDMYWARSQDGLGDSAYGS
16:57931808-57931808 C>A	0.0	4359	COLON	-	-	-	-	CNGB1	ENST00000564448,p.G990V|uc002emt.2,p.G996V|ENST00000251102,p.G996V|NM_001286130,p.G990V|NM_001297,p.G996V|uc010cdh.2,p.G990V	retained_intron, protein_coding, processed_transcript	uc010cdh.2	nonsynonymous SNV	exon30	c.G2969T	p.G990V	LPNDYVCKKGEIGREMYIIQAGQVQ	LPNDYVCKKGEIVREMYIIQAGQVQ	1.0	1.0	-	-	4359_16:57931808-57931808 C>A_LPNDYVCKKGEIVREMYIIQAGQVQ
2:238728964-238728964 T>G	0.0	4359	COLON	-	-	-	-	RBM44	ENST00000316997,p.L629R|NM_001080504,p.L629R|uc002vxi.4,p.L629R|ENST00000409864,p.L629R	retained_intron, protein_coding, processed_transcript	uc002vxi.4	nonsynonymous SNV	exon5	c.T1886G	p.L629R	QMCRRHCCDIYKLVMENREGLNMNL	QMCRRHCCDIYKRVMENREGLNMNL	4.0	3.0	-	-	4359_2:238728964-238728964 T>G_QMCRRHCCDIYKRVMENREGLNMNL
7:48312438-48312438 C>A	0.0	4359	COLON	-	-	-	-	ABCA13	ENST00000435803,p.H1059N|uc003toq.2,p.H1059N|NM_152701,p.H1059N|uc010kyr.2,p.H562N	retained_intron, protein_coding, nonsense_mediated_decay	uc010kyr.2	nonsynonymous SNV	exon18	c.C1684A	p.H562N	FMSTEGQELEVIHTTLTGLKQLLII	FMSTEGQELEVINTTLTGLKQLLII	4.0	4.0	-	-	4359_7:48312438-48312438 C>A_FMSTEGQELEVINTTLTGLKQLLII
12:55794778-55794778 C>T	0.0	4359	COLON	-	-	-	-	OR6C65	uc010spl.2,p.P156S|NM_001005518,p.P156S|ENST00000379665,p.P156S	protein_coding	uc010spl.2	nonsynonymous SNV	exon1	c.C466T	p.P156S	ISSWLAGFLIIFPPVIMGLQLDFCD	ISSWLAGFLIIFSPVIMGLQLDFCD	1.0	1.0	-	-	4359_12:55794778-55794778 C>T_ISSWLAGFLIIFSPVIMGLQLDFCD
14:26917203-26917203 G>T	0.0	4359	COLON	-	-	-	-	NOVA1	NM_002515,p.Q496K|uc001wpz.3,p.Q472K|ENST00000539517,p.Q496K|uc001wqa.3,p.Q374K|NM_006489,p.Q472K|uc001wpy.3,p.Q496K|ENST00000465357,p.Q472K|ENST00000267422,p.Q374K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wqa.3	nonsynonymous SNV	exon6	c.C1120A	p.Q374K	AQYLITQRITYEQGVRAANPQKVG	AQYLITQRITYEKGVRAANPQKVG	4.0	2.0	-	-	4359_14:26917203-26917203 G>T_AQYLITQRITYEKGVRAANPQKVG
3:41439744-41439744 T>G	1.0	4359	COLON	-	-	-	-	ULK4	uc003ckv.4,p.E1168D|ENST00000301831,p.E1168D|NM_017886,p.E1168D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ckv.4	nonsynonymous SNV	exon35	c.A3504C	p.E1168D	DLISLLIPLLPNEDPEIFDVSSKCL	DLISLLIPLLPNDDPEIFDVSSKCL	7.0	2.0	-	-	4359_3:41439744-41439744 T>G_DLISLLIPLLPNDDPEIFDVSSKCL
19:58868374-58868374 G>A	0.0	4359	COLON	-	-	-	-	ZNF497	NM_001207009,p.R210C|uc002qsh.2,p.R210C|ENST00000311044,p.R210C|NM_198458,p.R210C|ENST00000425453,p.R210C|uc002qsi.2,p.R210C|uc021vcw.1,p.R210C	protein_coding	uc021vcw.1	nonsynonymous SNV	exon1	c.C628T	p.R210C	SFGRSTTLVQHRRTHTGEKPYECPE	SFGRSTTLVQHRCTHTGEKPYECPE	1.0	3.0	-	-	4359_19:58868374-58868374 G>A_SFGRSTTLVQHRCTHTGEKPYECPE
7:142723426-142723426 T>C	0.0	4359	COLON	-	-	-	-	OR9A2	uc003wcc.1,p.E265G|ENST00000350513,p.E265G|NM_001001658,p.E265G	protein_coding	uc003wcc.1	nonsynonymous SNV	exon1	c.A794G	p.E265G	FLYVKPKQTQGVEYNKIVSLLVSVL	FLYVKPKQTQGVGYNKIVSLLVSVL	1.0	2.0	-	-	4359_7:142723426-142723426 T>C_FLYVKPKQTQGVGYNKIVSLLVSVL
13:38924254-38924254 G>A	1.0	4359	COLON	-	-	-	-	UFM1	ENST00000379649,p.M1I|ENST00000379641,p.M1I|NM_001286704,p.M1I	retained_intron, protein_coding	NM_001286704	nonsynonymous SNV	exon2	c.G3A	p.M1I	MIRAFPTTTPRSL	IIRAFPTTTPRSL	9.0	4.0	unscreened	-	4359_13:38924254-38924254 G>A_IIRAFPTTTPRSL
1:223986155-223986155 T>G	1.0	4359	COLON	-	-	-	-	TP53BP2	uc001hod.3,p.Q441H|ENST00000391878,p.Q441H|uc010pvb.2,p.Q570H|uc010pva.2,p.Q209H|NM_005426,p.Q441H|NM_001031685,p.Q570H|ENST00000343537,p.Q570H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pvb.2	nonsynonymous SNV	exon12	c.A1710C	p.Q570H	RVLLSPSIPSVGQDQTLSPGSKQES	RVLLSPSIPSVGHDQTLSPGSKQES	9.0	1.0	-	-	4359_1:223986155-223986155 T>G_RVLLSPSIPSVGHDQTLSPGSKQES
10:105900617-105900617 A>C	0.0	4359	COLON	-	-	-	-	CFAP43	uc009xxq.3,p.L751V|uc001kxw.3,p.L1472V|ENST00000357060,p.L1472V|ENST00000428666,p.L1444V|NM_025145,p.L1472V	protein_coding, processed_transcript	uc009xxq.3	nonsynonymous SNV	exon19	c.T2251G	p.L751V	DAILINKNIIEDLNSVIRTQGQKKV	DAILINKNIIEDVNSVIRTQGQKKV	4.0	4.0	-	-	4359_10:105900617-105900617 A>C_DAILINKNIIEDVNSVIRTQGQKKV
2:210558905-210558905 A>G	0.0	4359	COLON	-	-	-	-	MAP2	ENST00000447185,p.R667G|uc002vde.1,p.R671G|uc002vdi.1,p.R667G|uc002vdc.1,p.R671G|ENST00000360351,p.R671G|NM_002374,p.R671G	retained_intron, protein_coding, processed_transcript	uc002vdi.1	nonsynonymous SNV	exon4	c.A1999G	p.R667G	MFTIDPKVYGEKRDLHSKNKDDLTL	MFTIDPKVYGEKGDLHSKNKDDLTL	6.0	4.0	-	-	4359_2:210558905-210558905 A>G_MFTIDPKVYGEKGDLHSKNKDDLTL
5:169661188-169661188 A>G	0.0	4359	COLON	-	-	-	-	C5orf58	ENST00000593851,p.R17G|ENST00000521850,p.R17G|NM_001102609,p.R17G|uc010jjn.3,p.R17G|ENST00000524171,p.R17G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jjn.3	nonsynonymous SNV	exon2	c.A49G	p.R17G	AEILPAQEKVEARIDLKMGKKRVTD	AEILPAQEKVEAGIDLKMGKKRVTD	1.0	3.0	-	-	4359_5:169661188-169661188 A>G_AEILPAQEKVEAGIDLKMGKKRVTD
9:111625903-111625903 G>A	0.0	4359	COLON	-	-	-	-	ACTL7A	uc004bdj.1,p.C434Y|ENST00000333999,p.C434Y|NM_006687,p.C434Y	protein_coding	uc004bdj.1	nonsynonymous SNV	exon1	c.G1301A	p.C434Y	YEEHGPFFLYRRCF	YEEHGPFFLYRRYF	1.0	4.0	-	-	4359_9:111625903-111625903 G>A_YEEHGPFFLYRRYF
6:22570229-22570229 A>C	0.0	4359	COLON	-	-	-	-	HDGFL1	ENST00000510882,p.K142T|NM_138574,p.K142T|ENST00000230012,p.K142T|uc003nds.3,p.K142T	protein_coding	uc003nds.3	nonsynonymous SNV	exon1	c.A425C	p.K142T	GKPDDDKPTEEEKGPLKRSAGDPPE	GKPDDDKPTEEETGPLKRSAGDPPE	1.0	3.0	-	-	4359_6:22570229-22570229 A>C_GKPDDDKPTEEETGPLKRSAGDPPE
7:102579887-102579887 A>C	0.0	4359	COLON	-	-	-	-	LRRC17	ENST00000339431,p.K261N|NM_005824,p.K261N|ENST00000249377,p.K261N|uc003vat.3,p.K261N|NM_001031692,p.K261N|uc003vau.3,p.K261N	protein_coding, processed_transcript	uc003vau.3	nonsynonymous SNV	exon3	c.A783C	p.K261N	IQTLDCKRKELKKVPNNIPPDIVKL	IQTLDCKRKELKNVPNNIPPDIVKL	6.0	2.0	-	-	4359_7:102579887-102579887 A>C_IQTLDCKRKELKNVPNNIPPDIVKL
12:78513100-78513100 G>A	0.0	4359	COLON	-	-	-	-	NAV3	uc001syo.3,p.G1042R|uc009zsf.3,p.G50R|uc010sub.2,p.G542R|ENST00000228327,p.G1042R|NM_014903,p.G1042R|NM_001024383,p.G1042R|uc001syp.3,p.G1042R|ENST00000536525,p.G1042R|ENST00000397909,p.G1042R|ENST00000266692,p.G1042R	retained_intron, protein_coding, processed_transcript	uc010sub.2	nonsynonymous SNV	exon7	c.G1624A	p.G542R	KGSSLQRSPSDAGKSSGDEGKKPPS	KGSSLQRSPSDARKSSGDEGKKPPS	6.0	5.0	-	-	4359_12:78513100-78513100 G>A_KGSSLQRSPSDARKSSGDEGKKPPS
11:7091653-7091653 T>G	0.0	4359	COLON	-	-	-	-	NLRP14	uc001mfb.1,p.L1038V|NM_176822,p.L1038V|ENST00000299481,p.L1038V	protein_coding	uc001mfb.1	nonsynonymous SNV	exon11	c.T3112G	p.L1038V	LGYEGIVKLYKVLKSPKCKLQVLGL	LGYEGIVKLYKVVKSPKCKLQVLGL	3.0	3.0	-	-	4359_11:7091653-7091653 T>G_LGYEGIVKLYKVVKSPKCKLQVLGL
16:67412611-67412611 T>G	1.0	4359	COLON	-	-	-	-	LRRC36	ENST00000290940,p.L326V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000290940	nonsynonymous SNV	exon8	c.T976G	p.L326V	CHLNCEWATVTYL	CHLNCEWATVTYV	5.0	3.0	unscreened	-	4359_16:67412611-67412611 T>G_CHLNCEWATVTYV
20:34065877-34065877 T>G	1.0	4359	COLON	-	-	-	-	CEP250	ENST00000397527,p.L682R|ENST00000342580,p.L682R|uc021wco.1,p.L682R|NM_007186,p.L682R|uc010zve.2,p.L50R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wco.1	nonsynonymous SNV	exon17	c.T2045G	p.L682R	KAEEAGAELQADLRDIQEEKEEIQK	KAEEAGAELQADRRDIQEEKEEIQK	8.0	1.0	-	-	4359_20:34065877-34065877 T>G_KAEEAGAELQADRRDIQEEKEEIQK
2:179522630-179522630 T>G	0.0	4359	COLON	-	-	-	-	TTN	NM_001267550,p.K12617N|ENST00000589042,p.K12617N|uc031rqc.1,p.K12617N	retained_intron, protein_coding	uc031rqc.1	nonsynonymous SNV	exon187	c.A37851C	p.K12617N	VPEKKVPKAPPTKPEAPPATVPEVP	VPEKKVPKAPPTNPEAPPATVPEVP	4.0	3.0	-	-	4359_2:179522630-179522630 T>G_VPEKKVPKAPPTNPEAPPATVPEVP
19:50156360-50156360 A>C	0.0	4359	COLON	-	-	-	-	SCAF1	uc002poq.3,p.K905T|ENST00000360565,p.K905T|NM_021228,p.K905T	protein_coding	uc002poq.3	nonsynonymous SNV	exon7	c.A2714C	p.K905T	GSTKPKKTKVKAKAGAKKTKGTKGK	GSTKPKKTKVKATAGAKKTKGTKGK	6.0	1.0	-	-	4359_19:50156360-50156360 A>C_GSTKPKKTKVKATAGAKKTKGTKGK
7:149462324-149462324 G>A	0.0	4359	COLON	-	-	-	-	ZNF467	NM_207336,p.R423C|uc003wgd.2,p.R423C|ENST00000302017,p.R423C	protein_coding	uc003wgd.2	nonsynonymous SNV	exon5	c.C1267T	p.R423C	GCGPGSDPVVPQRAPSGERSFFCPD	GCGPGSDPVVPQCAPSGERSFFCPD	3.0	2.0	-	-	4359_7:149462324-149462324 G>A_GCGPGSDPVVPQCAPSGERSFFCPD
6:118791737-118791737 T>A	0.0	4359	COLON	-	-	-	-	CEP85L	NM_001042475,p.E662V|ENST00000368491,p.E662V|uc003pxz.2,p.E662V|ENST00000368488,p.E665V|uc003pya.2,p.E665V|NM_001178035,p.E665V	retained_intron, protein_coding, processed_transcript	uc003pya.2	nonsynonymous SNV	exon12	c.A1994T	p.E665V	TTQKMMEELEKKERNVQRLTKALLE	TTQKMMEELEKKVRNVQRLTKALLE	4.0	1.0	-	-	4359_6:118791737-118791737 T>A_TTQKMMEELEKKVRNVQRLTKALLE
3:36527724-36527724 T>C	0.0	4359	COLON	-	-	-	-	STAC	NM_003149,p.S224P|uc003cgh.1,p.S224P|ENST00000434649,p.S152P|uc011aya.1,p.S163P|ENST00000273183,p.S224P|ENST00000457375,p.S163P|NM_001292049,p.S163P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aya.1	nonsynonymous SNV	exon3	c.T487C	p.S163P	RTKKGSSGSGSDSPHRTSTSDLVEV	RTKKGSSGSGSDPPHRTSTSDLVEV	5.0	1.0	-	-	4359_3:36527724-36527724 T>C_RTKKGSSGSGSDPPHRTSTSDLVEV
17:10433180-10433180 A>C	0.0	4359	COLON	-	-	-	-	MYH2	NM_017534,p.V970G|NM_001100112,p.V970G|uc010coi.3,p.V970G|uc002gmp.4,p.V970G|ENST00000397183,p.V970G|ENST00000245503,p.V970G	protein_coding	uc010coi.3	nonsynonymous SNV	exon23	c.T2909G	p.V970G	KDIDDLELTLAKVEKEKHATENKVK	KDIDDLELTLAKGEKEKHATENKVK	3.0	1.0	-	-	4359_17:10433180-10433180 A>C_KDIDDLELTLAKGEKEKHATENKVK
4:15603045-15603045 G>C	0.0	4359	COLON	-	-	-	-	CC2D2A	ENST00000503292,p.R1620S|ENST00000389652,p.R1512S|uc010idv.2,p.R1620S|uc003gnx.3,p.R1512S|ENST00000413206,p.R1620S|ENST00000424120,p.R1620S|NM_001080522,p.R1620S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010idv.2	nonsynonymous SNV	exon38	c.G4860C	p.R1620S	SVWIYVASLIRNR	SVWIYVASLIRNS	5.0	1.0	-	-	4359_4:15603045-15603045 G>C_SVWIYVASLIRNS