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 mmp status 14:45513866-45513866 G>T 0.0 4335 COLORECTAL - - - - FAM179B uc001wvv.3,p.R1316L|NM_015091,p.R1316L|ENST00000361577,p.R1316L|uc001wvw.3,p.R1316L|ENST00000361462,p.R1316L retained_intron, protein_coding, nonsense_mediated_decay uc001wvw.3 nonsynonymous SNV exon13 c.G3947T p.R1316L VQEVKNLRSGVSRAAVVCLSDLFTY VQEVKNLRSGVSLAAVVCLSDLFTY 8.0 4.0 - - 4335_14:45513866-45513866 G>T_VQEVKNLRSGVSLAAVVCLSDLFTY 0.0 1:6680026-6680026 A>T 1.0 4196 COLORECTAL - - - - PHF13 NM_153812,p.K102M|uc001aob.4,p.K102M|ENST00000377648,p.K102M protein_coding, processed_transcript uc001aob.4 nonsynonymous SNV exon3 c.A305T p.K102M FSHLQPTLLQRAKPSNFLLDRKKTD FSHLQPTLLQRAMPSNFLLDRKKTD 6.0 5.0 - - 4196_1:6680026-6680026 A>T_FSHLQPTLLQRAMPSNFLLDRKKTD 0.0 7:132192270-132192270 T>A 0.0 4298 COLORECTAL - - - - PLXNA4 uc003vra.4,p.S395C|ENST00000378539,p.S395C|ENST00000359827,p.S395C|uc003vrb.3,p.S395C|NM_181775,p.S395C|uc003vrc.2,p.S395C|NM_001105543,p.S395C|NM_020911,p.S395C|ENST00000321063,p.S395C|ENST00000423507,p.S395C retained_intron, protein_coding uc003vrc.2 nonsynonymous SNV exon2 c.A1183T p.S395C LAWLKVKDIPCSSALLTIDDNFCGL LAWLKVKDIPCSCALLTIDDNFCGL 5.0 4.0 - - 4298_7:132192270-132192270 T>A_LAWLKVKDIPCSCALLTIDDNFCGL 0.0 7:117431919-117431919 C>T 1.0 4346 COLORECTAL - - ID=COSM1548059;OCCURENCE=1(lung) - CTTNBP2 ENST00000160373,p.R444Q|NM_033427,p.R444Q|uc003vjf.3,p.R444Q|ENST00000441556,p.R444Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003vjf.3 nonsynonymous SNV exon4 c.G1331A p.R444Q CANTSLHPGLNPRIQAARFRFQGNA CANTSLHPGLNPQIQAARFRFQGNA 5.0 9.0 - - 4346_7:117431919-117431919 C>T_CANTSLHPGLNPQIQAARFRFQGNA 0.0 16:11935835-11935835 C>T 1.0 4335 COLORECTAL - - - - RSL1D1 uc010buv.1,p.G220R|uc002dbp.1,p.G220R|NM_015659,p.G220R retained_intron, protein_coding, nonsense_mediated_decay uc010buv.1 nonsynonymous SNV exon6 c.G658A p.G220R SGSCSAIRIGHVGMQIEHIIENIVA SGSCSAIRIGHVRMQIEHIIENIVA 10.0 7.0 CD8 - 4335_16:11935835-11935835 C>T_SGSCSAIRIGHVRMQIEHIIENIVA 1.0 12:123818611-123818611 A>G 1.0 2591 MELANOMA - - - - SBNO1 ENST00000420886,p.Y300H|uc001uet.2,p.Y300H|ENST00000267176,p.Y299H|ENST00000602398,p.Y300H|uc001uev.2,p.Y298H|uc010tao.2,p.Y299H|uc009zxy.1,p.Y265H|NM_001167856,p.Y300H|uc010tap.2,p.Y300H|uc001ueu.2,p.Y299H|ENST00000602750,p.Y299H|NM_018183,p.Y299H protein_coding uc010tap.2 nonsynonymous SNV exon6 c.T898C p.Y300H GWLSALQLEAITYAAQQHETFLPNG GWLSALQLEAITHAAQQHETFLPNG 6.0 3.0 - - 2591_12:123818611-123818611 A>G_GWLSALQLEAITHAAQQHETFLPNG 0.0 1:29435945-29435945 C>T 1.0 3879 MELANOMA - - - - EPB41 uc001brl.2,p.T771I|uc001brg.2,p.T581I|NM_203342,p.T581I|ENST00000356093,p.T771I|uc001bri.2,p.T715I|uc021okg.1,p.T750I|ENST00000347529,p.T715I|ENST00000373798,p.T804I|uc001brm.2,p.T804I|ENST00000349460,p.T581I|ENST00000343067,p.T804I|uc009vtm.2,p.T383I|NM_001166007,p.T541I|uc001brj.2,p.T541I|ENST00000398863,p.T707I|NM_203343,p.T715I|NM_001166005,p.T804I|uc009vtl.2,p.T498I protein_coding, processed_transcript uc021okg.1 nonsynonymous SNV exon14 c.C2249T p.T750I SETPSSTTTTQITKTVKGGISETRI SETPSSTTTTQIIKTVKGGISETRI 7.0 3.0 - - 3879_1:29435945-29435945 C>T_SETPSSTTTTQIIKTVKGGISETRI 0.0 4:47938625-47938625 C>T 0.0 3903 MELANOMA - - - - CNGA1 ENST00000402813,p.R698Q|ENST00000358519,p.R629Q|NM_000087,p.R629Q|uc003gxu.3,p.R698Q|ENST00000420489,p.R629Q|NM_001142564,p.R698Q|uc003gxt.4,p.R629Q|ENST00000514170,p.R629Q|ENST00000544810,p.R629Q retained_intron, protein_coding uc003gxu.3 nonsynonymous SNV exon10 c.G2093A p.R698Q GSDPKDLEEKVTRMEGSVDLLQTRF GSDPKDLEEKVTQMEGSVDLLQTRF 2.0 8.0 - - 3903_4:47938625-47938625 C>T_GSDPKDLEEKVTQMEGSVDLLQTRF 0.0 11:118771477-118771477 G>A 1.0 3466 MELANOMA - - - 1 BCL9L ENST00000334801,p.P992L|uc001pug.3,p.P992L|NM_182557,p.P992L|uc009zal.3,p.P987L protein_coding, processed_transcript uc009zal.3 nonsynonymous SNV exon6 c.C2960T p.P987L GSSLSVRSPTGSPSRLKSPSMAVPS GSSLSVRSPTGSLSRLKSPSMAVPS 7.0 4.0 - - 3466_11:118771477-118771477 G>A_GSSLSVRSPTGSLSRLKSPSMAVPS 0.0 21:47776997-47776997 C>T 1.0 3713 MELANOMA - - - - PCNT NM_006031,p.S682L|uc002zji.4,p.S682L|uc002zjj.3,p.S564L|ENST00000359568,p.S682L retained_intron, protein_coding, processed_transcript uc002zjj.3 nonsynonymous SNV exon13 c.C1691T p.S564L VLGLETEHKVQLSLLQTELKEEIEL VLGLETEHKVQLLLLQTELKEEIEL 8.0 2.0 - - 3713_21:47776997-47776997 C>T_VLGLETEHKVQLLLLQTELKEEIEL 0.0 1:170521499-170521499 C>T 1.0 3713 MELANOMA - - ID=COSM677209;OCCURENCE=1(lung) - GORAB uc009wvx.2,p.P181S|ENST00000367763,p.P361S|uc001ghb.2,p.P181S|uc001ghd.2,p.P154S|NM_152281,p.P361S|uc001ghc.2,p.P181S|uc001gha.2,p.P361S protein_coding, processed_transcript uc009wvx.2 nonsynonymous SNV exon5 c.C541T p.P181S KENRKCQEQAVSPKVDDQCGNSSSI KENRKCQEQAVSSKVDDQCGNSSSI 7.0 9.0 - - 3713_1:170521499-170521499 C>T_KENRKCQEQAVSSKVDDQCGNSSSI 0.0 14:39771344-39771344 A>T 1.0 4234 NSCLC - - - - CTAGE5 ENST00000603904,p.E240D|uc001wvg.4,p.E269D|NM_203355,p.E269D|uc001wvj.4,p.E240D|uc010tqe.1,p.E231D|uc001wvf.4,p.E194D|ENST00000553352,p.E240D|uc001wva.4,p.E240D|NM_005930,p.E269D|NM_001247988,p.E240D|uc001wuy.4,p.E189D|ENST00000396158,p.E274D|NM_001247990,p.E194D|NM_203354,p.E257D|ENST00000280083,p.E269D|ENST00000557038,p.E189D|uc001wvh.4,p.E269D|NM_001247989,p.E274D|ENST00000556148,p.E194D|NM_203356,p.E240D|ENST00000341749,p.E257D|uc001wvb.4,p.E240D|ENST00000553728,p.E804D|ENST00000348007,p.E269D|ENST00000341502,p.E269D|uc001wuz.4,p.E257D|uc001wvc.4,p.E214D|uc001wvi.4,p.E274D|ENST00000396165,p.E240D|uc001wve.1,p.E245D processed_transcript,protein_coding uc010tqe.1 nonsynonymous SNV exon9 c.A693T p.E231D LNDKESHIKTLTERLLKMKDWAAML LNDKESHIKTLTDRLLKMKDWAAML 9.0 10.0 - - 4234_14:39771344-39771344 A>T_LNDKESHIKTLTDRLLKMKDWAAML 0.0 2:179499194-179499194 T>A 0.0 4298 COLORECTAL - - - - TTN ENST00000342992,p.K11537M|NM_003319,p.K5040M|ENST00000589042,p.K14105M|uc021vtb.2,p.K5040M|NM_133437,p.K5232M|uc021vsy.2,p.K11537M|ENST00000460472,p.K5040M|uc021vsz.2,p.K5232M|NM_133432,p.K5165M|NM_001256850,p.K12464M|uc031rqc.1,p.K14105M|ENST00000359218,p.K5165M|uc021vta.2,p.K5165M|NM_001267550,p.K14105M|ENST00000591111,p.K12464M|ENST00000342175,p.K5232M|uc031rqd.1,p.K12464M|NM_133378,p.K11537M retained_intron, protein_coding uc031rqd.1 nonsynonymous SNV exon180 c.A37391T p.K12464M KSSDKFDIIADGKKHILVINDSQFD KSSDKFDIIADGMKHILVINDSQFD 7.0 6.0 - - 4298_2:179499194-179499194 T>A_KSSDKFDIIADGMKHILVINDSQFD 0.0 19:46319206-46319206 T>G 1.0 4345 COLORECTAL - - - - SYMPK uc002pdn.3,p.E1197A|ENST00000245934,p.E1197A|NM_004819,p.E1197A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002pdn.3 nonsynonymous SNV exon26 c.A3590C p.E1197A SEEAMDFREEGPECETPGIFISMDD SEEAMDFREEGPACETPGIFISMDD 9.0 4.0 - - 4345_19:46319206-46319206 T>G_SEEAMDFREEGPACETPGIFISMDD 0.0 2:189910536-189910536 C>G 0.0 4186 BREAST - - - - COL5A2 NM_000393,p.R1100T|uc002uqk.3,p.R1100T|ENST00000374866,p.R1100T|uc010frx.3,p.R676T retained_intron, protein_coding uc010frx.3 nonsynonymous SNV exon30 c.G2027C p.R676T PGPVGAPGDAGQRGDPGSRGPIGPP PGPVGAPGDAGQTGDPGSRGPIGPP 7.0 4.0 - - 4186_2:189910536-189910536 C>G_PGPVGAPGDAGQTGDPGSRGPIGPP 0.0 1:157805798-157805798 C>A 0.0 4245 COLORECTAL - - - - CD5L NM_005894,p.G68V|uc001frk.4,p.G68V|ENST00000368174,p.G68V protein_coding, processed_transcript uc001frk.4 nonsynonymous SNV exon3 c.G203T p.G68V KDVAVLCRELGCGAASGTPSGILYE KDVAVLCRELGCVAASGTPSGILYE 2.0 5.0 - - 4245_1:157805798-157805798 C>A_KDVAVLCRELGCVAASGTPSGILYE 0.0 11:20869220-20869220 C>T 0.0 4278 COLORECTAL - - ID=COSM213828;OCCURENCE=1(breast) - NELL1 NM_201551,p.R143C|uc001mqf.3,p.R143C|uc009yid.3,p.R171C|NM_006157,p.R143C|NM_001288713,p.R171C|uc001mqe.3,p.R143C|ENST00000532434,p.R143C|ENST00000298925,p.R171C|ENST00000357134,p.R143C retained_intron, protein_coding, processed_transcript uc009yid.3 nonsynonymous SNV exon5 c.C511T p.R171C HNGKPRTEALPYRMADGQWHKVALS HNGKPRTEALPYCMADGQWHKVALS 5.0 10.0 - - 4278_11:20869220-20869220 C>T_HNGKPRTEALPYCMADGQWHKVALS 0.0 8:28651392-28651392 G>T 1.0 4245 COLORECTAL - - - - INTS9 NM_018250,p.S323R|ENST00000523303,p.S323R|ENST00000521777,p.S299R|uc011lav.2,p.S299R|uc003xha.3,p.S323R|NM_001172562,p.S299R|uc011lax.2,p.S216R|NM_001145159,p.S302R|ENST00000521022,p.S323R|uc011law.2,p.S302R|ENST00000397363,p.S217R|ENST00000523436,p.S278R|ENST00000416984,p.S302R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011lax.2 nonsynonymous SNV exon8 c.C648A p.S216R CLYQYIDSAGLSSVPLYFISPVANS CLYQYIDSAGLSRVPLYFISPVANS 8.0 5.0 - - 4245_8:28651392-28651392 G>T_CLYQYIDSAGLSRVPLYFISPVANS 0.0 6:71004099-71004099 G>A 1.0 2369 MELANOMA - - - - COL9A1 ENST00000370496,p.S156L|uc003pfg.4,p.S156L|NM_001851,p.S156L|ENST00000357250,p.S156L retained_intron, protein_coding, processed_transcript uc003pfg.4 nonsynonymous SNV exon5 c.C467T p.S156L IKINGQTQSVVFSYKGLDGSLQTAA IKINGQTQSVVFLYKGLDGSLQTAA 7.0 9.0 - - 2369_6:71004099-71004099 G>A_IKINGQTQSVVFLYKGLDGSLQTAA 0.0 9:132620855-132620855 C>T 1.0 4129 NSCLC - - - - USP20 uc004bys.3,p.S103F|ENST00000315480,p.S103F|NM_006676,p.S103F|NM_001008563,p.S103F|uc004byr.3,p.S103F|uc004byt.2,p.S103F|ENST00000358355,p.S103F|NM_001110303,p.S103F|ENST00000372429,p.S103F protein_coding, processed_transcript uc004byt.2 nonsynonymous SNV exon6 c.C308T p.S103F FLEQRLAAPLLGSSSKFSEQDSPPP FLEQRLAAPLLGFSSKFSEQDSPPP 7.0 10.0 - - 4129_9:132620855-132620855 C>T_FLEQRLAAPLLGFSSKFSEQDSPPP 0.0 14:31833417-31833417 ->A 0.0 4278 COLORECTAL - - - - HEATR5A ENST00000404677,p.L683fs|NM_015473,p.L683fs|ENST00000389961,p.L677fs|uc010tpk.1,p.L683fs|ENST00000543095,p.L683fs|uc001wrf.4,p.L683fs|ENST00000439727,p.L390fs|uc001wrg.1,p.L272fs|ENST00000439348,p.L677fs|uc010ami.3,p.L288fs retained_intron, protein_coding uc010tpk.1 frameshift insertion exon16 c.2048dupT p.L683fs VVYRQRLYELLILLPPETYEGNLCA VVYRQRLYELLIFITS 9.0 9.0 - - 4278_14:31833417-31833417 ->A_VVYRQRLYELLIFITS 0.0 7:150839595-150839595 C>T 1.0 2556 MELANOMA - - - - AGAP3 uc003wjg.1,p.S716F|ENST00000463381,p.S385F|NM_031946,p.S716F|uc003wjj.1,p.S215F|NM_001281300,p.S385F|uc003wje.1,p.S385F|uc003wjk.1,p.S134F|ENST00000397238,p.S716F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003wjk.1 nonsynonymous SNV exon3 c.C401T p.S134F HRHLGAHLSRVRSLDLDDWPPELLA HRHLGAHLSRVRFLDLDDWPPELLA 9.0 1.0 - - 2556_7:150839595-150839595 C>T_HRHLGAHLSRVRFLDLDDWPPELLA 0.0 11:78380497-78380497 C>T 0.0 4259 COLORECTAL - - - - TENM4 ENST00000278550,p.R2298Q|uc001ozl.4,p.R2298Q|NM_001098816,p.R2298Q|ENST00000530738,p.R762Q|uc001ozk.4,p.R523Q retained_intron, protein_coding, processed_transcript uc001ozl.4 nonsynonymous SNV exon32 c.G6893A p.R2298Q SWSVRYRYDGLGRRVSSKSSHSHHL SWSVRYRYDGLGQRVSSKSSHSHHL 4.0 6.0 - - 4259_11:78380497-78380497 C>T_SWSVRYRYDGLGQRVSSKSSHSHHL 0.0 1:242042461-242042461 C>A 1.0 4189 MELANOMA - - - - EXO1 NM_130398,p.S642Y|NM_003686,p.S642Y|uc009xgq.3,p.S641Y|ENST00000348581,p.S642Y|ENST00000518483,p.S642Y|ENST00000366548,p.S642Y|uc021plj.1,p.S642Y|uc001hzh.3,p.S642Y|NM_006027,p.S642Y|uc021plk.1,p.S642Y protein_coding, processed_transcript uc021plk.1 nonsynonymous SNV exon11 c.C1925A p.S642Y LQQFRRKSDSPTSLPENNMSDVSQL LQQFRRKSDSPTYLPENNMSDVSQL 8.0 1.0 - - 4189_1:242042461-242042461 C>A_LQQFRRKSDSPTYLPENNMSDVSQL 0.0 8:117778974-117778974 G>T 1.0 4126 NSCLC - - - - UTP23 ENST00000517814,p.Q44H|ENST00000521703,p.Q44H|ENST00000357148,p.Q44H|ENST00000309822,p.Q44H|uc003yoc.3,p.Q44H|ENST00000517820,p.Q44H|NM_032334,p.Q44H|ENST00000521071,p.Q44H retained_intron, protein_coding, nonsense_mediated_decay uc003yoc.3 nonsynonymous SNV exon1 c.G132T p.Q44H GTFCQAALRGRIQLREQLPRYLMGE GTFCQAALRGRIHLREQLPRYLMGE 9.0 6.0 CD8 - 4126_8:117778974-117778974 G>T_GTFCQAALRGRIHLREQLPRYLMGE 1.0 5:82833434-82833434 G>C 0.0 3775 CERVICAL - - - - VCAN ENST00000343200,p.E551Q|NM_001164097,p.E551Q|uc003kil.3,p.E202Q|uc003kii.3,p.E1538Q|ENST00000513960,p.E551Q|NM_004385,p.E1538Q|uc003kij.3,p.E551Q|ENST00000265077,p.E1538Q retained_intron, protein_coding, processed_transcript uc003kil.3 nonsynonymous SNV exon1 c.G604C p.E202Q DTEVGHQAHEHTEPVSLFPEESSGE DTEVGHQAHEHTQPVSLFPEESSGE 10.0 8.0 - - 3775_5:82833434-82833434 G>C_DTEVGHQAHEHTQPVSLFPEESSGE 0.0 15:69739230-69739230 G>T 1.0 4196 COLORECTAL - - - - KIF23 uc010bii.3,p.M745I|ENST00000260363,p.M939I|ENST00000559279,p.M835I|uc002asc.3,p.M835I|NM_004856,p.M835I|ENST00000558585,p.M652I|ENST00000537891,p.M652I|NM_001281301,p.M745I|uc002asb.3,p.M939I|ENST00000352331,p.M835I|uc010ukc.2,p.M652I|NM_138555,p.M939I|ENST00000395392,p.M931I retained_intron, protein_coding, nonsense_mediated_decay uc010ukc.2 nonsynonymous SNV exon17 c.G1956T p.M652I TDVETRCSVAVEMRAGSQLGPGYQH TDVETRCSVAVEIRAGSQLGPGYQH 9.0 3.0 - - 4196_15:69739230-69739230 G>T_TDVETRCSVAVEIRAGSQLGPGYQH 0.0 13:99092429-99092429 C>G 1.0 4301 MELANOMA - - - - FARP1 ENST00000319562,p.L857V|ENST00000595437,p.L888V|NM_005766,p.L857V|uc001vnj.3,p.L857V|uc001vnh.3,p.L888V|ENST00000376586,p.L888V|NM_001286839,p.L888V retained_intron, protein_coding, processed_transcript uc001vnj.3 nonsynonymous SNV exon23 c.C2569G p.L857V EKWVEDIQMAIDLAEKSSSPAPEFL EKWVEDIQMAIDVAEKSSSPAPEFL 9.0 5.0 - - 4301_13:99092429-99092429 C>G_EKWVEDIQMAIDVAEKSSSPAPEFL 0.0 X:38033598-38033598 G>A 1.0 3713 MELANOMA - - - - SRPX NM_001170751,p.P55L|uc011mkh.2,p.P55L|ENST00000538295,p.P55L|ENST00000378533,p.P55L|NM_006307,p.P55L|uc004ddy.2,p.P55L|NM_001170752,p.P55L|ENST00000432886,p.P55L|uc011mki.2,p.P55L protein_coding, processed_transcript uc011mki.2 nonsynonymous SNV exon3 c.C164T p.P55L EVGYSHPRYKDTPWCSPIKVKYGDV EVGYSHPRYKDTLWCSPIKVKYGDV 10.0 10.0 CD8 - 3713_X:38033598-38033598 G>A_EVGYSHPRYKDTLWCSPIKVKYGDV 1.0 1:155451059-155451059 C>T 1.0 3903 MELANOMA - - - - ASH1L ENST00000392403,p.M534I|NM_018489,p.M534I|uc009wqr.1,p.M534I|ENST00000368346,p.M534I|uc001fkt.3,p.M534I|uc009wqq.3,p.M534I retained_intron, protein_coding, nonsense_mediated_decay uc009wqr.1 nonsynonymous SNV exon4 c.G1602A p.M534I QPPVYCTSPDFKMGGASDVSTAKSP QPPVYCTSPDFKIGGASDVSTAKSP 7.0 1.0 - - 3903_1:155451059-155451059 C>T_QPPVYCTSPDFKIGGASDVSTAKSP 0.0 4:141543786-141543786 C>T 1.0 4000 MELANOMA - - - - TBC1D9 NM_015130,p.E1122K|uc010ioj.3,p.E1122K|ENST00000442267,p.E1122K retained_intron, protein_coding uc010ioj.3 nonsynonymous SNV exon21 c.G3364A p.E1122K VEPLPASLAPDSEEHSLGGQMEDIK VEPLPASLAPDSKEHSLGGQMEDIK 8.0 3.0 - - 4000_4:141543786-141543786 C>T_VEPLPASLAPDSKEHSLGGQMEDIK 0.0 8:144620290-144620290 G>A 1.0 3466 MELANOMA - - - - ZC3H3 NM_015117,p.S416L|ENST00000262577,p.S416L|uc003yyd.2,p.S416L protein_coding uc003yyd.2 nonsynonymous SNV exon2 c.C1247T p.S416L ASQLSPVLSRSPSGDRPAVGHSGLK ASQLSPVLSRSPLGDRPAVGHSGLK 5.0 7.0 - - 3466_8:144620290-144620290 G>A_ASQLSPVLSRSPLGDRPAVGHSGLK 0.0 3:145791123-145791123 T>A 1.0 2369 MELANOMA - - - - PLOD2 uc003evq.1,p.Y225F|uc003evr.1,p.Y565F|ENST00000461497,p.Y225F|ENST00000494950,p.Y510F|ENST00000360060,p.Y544F|NM_000935,p.Y544F|uc003evs.1,p.Y544F|ENST00000282903,p.Y565F|NM_182943,p.Y565F|uc011bnm.1,p.Y510F retained_intron, protein_coding, nonsense_mediated_decay uc011bnm.1 nonsynonymous SNV exon16 c.A1529T p.Y510F QIFENPVDWKEKYINRDYSKIFTEN QIFENPVDWKEKFINRDYSKIFTEN 6.0 2.0 - - 2369_3:145791123-145791123 T>A_QIFENPVDWKEKFINRDYSKIFTEN 0.0 9:5763492-5763492 G>T 1.0 4245 COLORECTAL - - ID=COSM1109396;OCCURENCE=1(endometrium) - RIC1 ENST00000414202,p.R822I|ENST00000251879,p.R822I|ENST00000418622,p.R743I|uc003zjj.1,p.R285I|uc003zjl.4,p.R785I|NM_020829,p.R822I|uc003zjh.4,p.R822I|ENST00000381532,p.R743I|NM_001206557,p.R785I|uc003zji.4,p.R822I|NM_001135920,p.R822I|ENST00000449720,p.R706I retained_intron, protein_coding, nonsense_mediated_decay uc003zjl.4 nonsynonymous SNV exon18 c.G2354T p.R785I QLEVLFPFCVVERTSQIYLHHILRQ QLEVLFPFCVVEITSQIYLHHILRQ 6.0 9.0 - - 4245_9:5763492-5763492 G>T_QLEVLFPFCVVEITSQIYLHHILRQ 0.0 3:74350924-74350924 C>T 0.0 4326 BREAST - - - - CNTN3 NM_020872,p.D607N|uc003dpm.1,p.D607N|ENST00000263665,p.D607N protein_coding, processed_transcript uc003dpm.1 nonsynonymous SNV exon14 c.G1819A p.D607N RGSPGPPENVKVDEITDTTAQLSWK RGSPGPPENVKVNEITDTTAQLSWK 4.0 10.0 - - 4326_3:74350924-74350924 C>T_RGSPGPPENVKVNEITDTTAQLSWK 0.0 X:30577674-30577674 C>A 0.0 4266 COLORECTAL - - - - CXorf21 NM_025159,p.A267S|uc004dcg.2,p.A267S|uc022bui.1,p.A267S|ENST00000378962,p.A267S protein_coding uc022bui.1 nonsynonymous SNV exon1 c.G799T p.A267S QVSREKNLETSKARDIVFSRLLQLM QVSREKNLETSKSRDIVFSRLLQLM 2.0 8.0 - - 4266_X:30577674-30577674 C>A_QVSREKNLETSKSRDIVFSRLLQLM 0.0 19:43097789-43097789 G>A 0.0 4213 COLORECTAL 0.0009 - - - CEACAM8 ENST00000244336,p.R110W|NM_001816,p.R110W|uc002oud.2,p.R110W protein_coding uc002oud.2 nonsynonymous SNV exon2 c.C328T p.R110W RETIYPNASLLMRNVTRNDTGSYTL RETIYPNASLLMWNVTRNDTGSYTL 4.0 7.0 - - 4213_19:43097789-43097789 G>A_RETIYPNASLLMWNVTRNDTGSYTL 0.0 7:18875201-18875201 C>A 0.0 4287 COLORECTAL - - - - HDAC9 NM_058176,p.P857T|NM_178425,p.P860T|ENST00000432645,p.P857T|ENST00000401921,p.P816T|uc003sue.3,p.P857T|ENST00000441542,p.P860T|ENST00000406451,p.P857T|uc003suh.3,p.P857T|uc003suj.3,p.P816T|uc003suk.3,p.P105T|NM_178423,p.P857T|uc003sui.3,p.P860T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003suk.3 nonsynonymous SNV exon4 c.C313A p.P105T YDEGNFFPGSGAPNEVGTGLGEGYN YDEGNFFPGSGATNEVGTGLGEGYN 6.0 10.0 - - 4287_7:18875201-18875201 C>A_YDEGNFFPGSGATNEVGTGLGEGYN 0.0 15:101120911-101120911 G>A 1.0 3903 MELANOMA - - ID=COSM1719370;OCCURENCE=2(NS) - LINS ENST00000561308,p.S46F|ENST00000559577,p.S46F|NM_001040616,p.S46F|ENST00000560272,p.S46F|uc002bwi.3,p.S46F|ENST00000559736,p.S46F|uc002bwg.3,p.S46F|ENST00000560934,p.S46F|ENST00000314742,p.S46F retained_intron, protein_coding, processed_transcript uc002bwi.3 nonsynonymous SNV exon2 c.C137T p.S46F PAVSDQDCSTATSLEWANTCGIQGR PAVSDQDCSTATFLEWANTCGIQGR 8.0 4.0 - - 3903_15:101120911-101120911 G>A_PAVSDQDCSTATFLEWANTCGIQGR 0.0 17:48243435-48243435 G>A 0.0 4316 COLORECTAL - - - - SGCA ENST00000262018,p.V12M|uc002iqi.3,p.V12M|NM_001135697,p.V12M|NM_000023,p.V12M|ENST00000344627,p.V12M|ENST00000502555,p.V12M|uc002iqj.3,p.V12M|ENST00000543315,p.V12M|ENST00000513821,p.V12M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002iqj.3 nonsynonymous SNV exon1 c.G34A p.V12M MAETLFWTPLLVVLLAGLGDTEAQ MAETLFWTPLLMVLLAGLGDTEAQ 2.0 7.0 - - 4316_17:48243435-48243435 G>A_MAETLFWTPLLMVLLAGLGDTEAQ 0.0 2:166231326-166231326 T>A 0.0 4329 COLORECTAL - - - - SCN2A NM_001040143,p.N1368K|NM_001040142,p.N1368K|ENST00000375437,p.N1368K|ENST00000357398,p.N1368K|ENST00000375427,p.N1368K|ENST00000283256,p.N1368K|uc002udc.3,p.N1368K|NM_021007,p.N1368K|uc002udd.3,p.N1368K|uc002ude.3,p.N1368K retained_intron, protein_coding uc002ude.3 nonsynonymous SNV exon21 c.T4104A p.N1368K VNLFAGKFYHCINYTTGEMFDVSVV VNLFAGKFYHCIKYTTGEMFDVSVV 2.0 4.0 - - 4329_2:166231326-166231326 T>A_VNLFAGKFYHCIKYTTGEMFDVSVV 0.0 1:894319-894319 G>A 1.0 4298 COLORECTAL - - - - NOC2L ENST00000327044,p.P57S|NM_015658,p.P57S|uc001abz.4,p.P57S|uc009vjq.3,p.P57S retained_intron, protein_coding, processed_transcript uc009vjq.3 nonsynonymous SNV exon2 c.C169T p.P57S EAARSPDKPGGSPSASRRKGRASEH EAARSPDKPGGSSSASRRKGRASEH 10.0 4.0 - - 4298_1:894319-894319 G>A_EAARSPDKPGGSSSASRRKGRASEH 0.0 6:32037930-32037930 C>A 0.0 4252 COLORECTAL - - - - TNXB NM_019105,p.G1751V|ENST00000375244,p.G1751V|uc003nzl.2,p.G1751V|ENST00000375247,p.G1751V retained_intron, protein_coding uc003nzl.2 nonsynonymous SNV exon14 c.G5252T p.G1751V FLLYGLLGKKRHGPLTADGTTEARS FLLYGLLGKKRHVPLTADGTTEARS 7.0 10.0 - - 4252_6:32037930-32037930 C>A_FLLYGLLGKKRHVPLTADGTTEARS 0.0 8:86171755-86171755 G>C 1.0 4252 COLORECTAL - - - - CA13 uc003ydg.2,p.S114T|ENST00000321764,p.S114T|NM_198584,p.S114T retained_intron, protein_coding, processed_transcript uc003ydg.2 nonsynonymous SNV exon3 c.G341C p.S114T DDHGSEHIVDGVSYAAELHVVHWNS DDHGSEHIVDGVTYAAELHVVHWNS 7.0 9.0 - - 4252_8:86171755-86171755 G>C_DDHGSEHIVDGVTYAAELHVVHWNS 0.0 18:58038632-58038632 G>C 1.0 4301 MELANOMA - - - - MC4R NM_005912,p.I317M|ENST00000299766,p.I317M|uc002lie.1,p.I317M protein_coding uc002lie.1 nonsynonymous SNV exon1 c.C951G p.I317M RSQELRKTFKEIICCYPLGGLCDLS RSQELRKTFKEIMCCYPLGGLCDLS 4.0 5.0 - - 4301_18:58038632-58038632 G>C_RSQELRKTFKEIMCCYPLGGLCDLS 0.0 1:181453086-181453086 T>A 0.0 4326 BREAST - - - - CACNA1E uc009wxt.3,p.L69Q|ENST00000360108,p.L69Q|NM_001205293,p.L69Q|ENST00000357570,p.L20Q|uc009wxs.3,p.L69Q|ENST00000358338,p.L20Q|NM_001205294,p.L69Q|ENST00000524607,p.L69Q|ENST00000367573,p.L69Q|ENST00000367570,p.L69Q|uc001gow.3,p.L69Q|NM_000721,p.L69Q|ENST00000526775,p.L69Q retained_intron, protein_coding uc009wxt.3 nonsynonymous SNV exon1 c.T206A p.L69Q PVRQNCFTVNRSLFIFGEDNIVRKY PVRQNCFTVNRSQFIFGEDNIVRKY 3.0 8.0 - - 4326_1:181453086-181453086 T>A_PVRQNCFTVNRSQFIFGEDNIVRKY 0.0 8:144776275-144776275 C>T 0.0 3713 MELANOMA - - - - ZNF707 ENST00000532205,p.P231S|ENST00000532158,p.P231S|uc003yze.4,p.P231S|uc003yzh.4,p.P158S|NM_001288805,p.P231S|ENST00000454097,p.P231S|ENST00000358656,p.P231S|uc010mfh.3,p.P231S|NM_173831,p.P231S|NM_001100598,p.P231S|NM_001100599,p.P231S|ENST00000418203,p.P231S|NM_001288806,p.P231S|NM_001288808,p.P195S|NM_001288809,p.P195S|uc010mfi.3,p.P231S|uc003yzf.4,p.P231S|NM_001288807,p.P158S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010mfi.3 nonsynonymous SNV exon5 c.C691T p.P231S LQRHQKNHTREKPFCCEACGQAFSL LQRHQKNHTREKSFCCEACGQAFSL 4.0 3.0 - - 3713_8:144776275-144776275 C>T_LQRHQKNHTREKSFCCEACGQAFSL 0.0 11:77850619-77850619 T>C 1.0 4252 COLORECTAL - - - - ALG8 NM_024079,p.I6V|uc001oza.1,p.I6V|NM_001007027,p.I6V|uc001oyz.1,p.I6V|ENST00000530454,p.I6V|ENST00000299626,p.I6V|ENST00000376156,p.I6V|ENST00000532050,p.I6V|ENST00000526737,p.I6V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001oza.1 nonsynonymous SNV exon1 c.A16G p.I6V MAALTIATGTGNWFSALA MAALTVATGTGNWFSALA 10.0 7.0 - - 4252_11:77850619-77850619 T>C_MAALTVATGTGNWFSALA 0.0 14:24619999-24619999 C>T 0.0 4238 COLORECTAL 0.0005 - - - RNF31 ENST00000559275,p.R313C|uc001wml.1,p.R313C|uc010alg.1,p.R279C|NM_017999,p.R464C|uc001wmn.1,p.R464C|ENST00000382687,p.R313C|ENST00000324103,p.R464C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010alg.1 nonsynonymous SNV exon7 c.C835T p.R279C LEKGPPKPGPPRRLSAPLPSSCGDP LEKGPPKPGPPRCLSAPLPSSCGDP 10.0 9.0 - - 4238_14:24619999-24619999 C>T_LEKGPPKPGPPRCLSAPLPSSCGDP 0.0 13:114774921-114774921 T>A 1.0 4284 COLORECTAL - - - - RASA3 ENST00000334062,p.Y537F|uc001vuj.3,p.Y154F|ENST00000389544,p.Y505F|uc010tkk.2,p.Y505F|NM_007368,p.Y537F|uc001vui.3,p.Y537F protein_coding uc010tkk.2 nonsynonymous SNV exon17 c.A1514T p.Y505F LSKSKSASFKESYMATFYEFFNEQK LSKSKSASFKESFMATFYEFFNEQK 8.0 4.0 - - 4284_13:114774921-114774921 T>A_LSKSKSASFKESFMATFYEFFNEQK 0.0 7:47897291-47897291 G>C 0.0 4316 COLORECTAL - - - - PKD1L1 uc003tny.2,p.A1501G|NM_138295,p.A1501G|ENST00000289672,p.A1501G retained_intron, protein_coding, processed_transcript uc003tny.2 nonsynonymous SNV exon28 c.C4502G p.A1501G VHLPGDLAGHSPAGAETQSPCYISQ VHLPGDLAGHSPGGAETQSPCYISQ 3.0 4.0 - - 4316_7:47897291-47897291 G>C_VHLPGDLAGHSPGGAETQSPCYISQ 0.0 5:148619409-148619409 T>C 0.0 4246 COLORECTAL - - - - ABLIM3 ENST00000506113,p.S388P|uc003lqa.1,p.S334P|uc003lqc.1,p.S388P|uc003lpy.2,p.S388P|NM_001301028,p.S326P|uc003lqb.3,p.S326P|NM_001301027,p.S334P|NM_001301018,p.S388P|NM_014945,p.S388P|ENST00000356541,p.S326P|uc003lpz.1,p.S388P|ENST00000504238,p.S326P|uc003lqf.3,p.S326P|ENST00000326685,p.S326P|uc003lqe.1,p.S326P|NM_001301015,p.S388P|ENST00000508983,p.S388P|uc003lqd.1,p.S326P|ENST00000309868,p.S388P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003lqf.3 nonsynonymous SNV exon10 c.T976C p.S326P YIDSPTYSRQGMSPTFSRSPHHYYR YIDSPTYSRQGMPPTFSRSPHHYYR 6.0 2.0 - - 4246_5:148619409-148619409 T>C_YIDSPTYSRQGMPPTFSRSPHHYYR 0.0 2:74087201-74087201 G>T 1.0 4234 NSCLC - - - - STAMBP ENST00000394070,p.D381Y|NM_006463,p.D381Y|NM_201647,p.D381Y|uc002sju.3,p.D381Y|NM_213622,p.D381Y|ENST00000394073,p.D381Y|ENST00000339566,p.D381Y|uc002sjs.3,p.D381Y|ENST00000409707,p.D381Y|uc002sjv.3,p.D381Y protein_coding, processed_transcript uc002sjv.3 nonsynonymous SNV exon9 c.G1141T p.D381Y PKFQETGFFKLTDHGLEEISSCRQK PKFQETGFFKLTYHGLEEISSCRQK 9.0 5.0 - - 4234_2:74087201-74087201 G>T_PKFQETGFFKLTYHGLEEISSCRQK 0.0 2:152695789-152695789 C>G 1.0 4284 COLORECTAL - - - - CACNB4 ENST00000201943,p.K407N|uc002txz.3,p.K451N|uc002txy.3,p.K435N|NM_000726,p.K469N|NM_001005747,p.K435N|ENST00000539935,p.K469N|ENST00000534999,p.K435N|ENST00000427385,p.K451N|ENST00000439467,p.K464N|ENST00000397327,p.K422N|uc002tya.3,p.K469N|ENST00000360283,p.K436N|NM_001145798,p.K407N|NM_001005746,p.K451N|uc010fnz.3,p.K407N retained_intron, protein_coding, processed_transcript uc010fnz.3 nonsynonymous SNV exon13 c.G1221C p.K407N TSDENYHNERARKSRNRLSSSSQHS TSDENYHNERARNSRNRLSSSSQHS 4.0 5.0 - - 4284_2:152695789-152695789 C>G_TSDENYHNERARNSRNRLSSSSQHS 0.0 5:140812775-140812775 ->T 0.0 4345 COLORECTAL - - - - PCDHGA12 NM_032094,p.L817fs|uc011dba.2,p.L817fs protein_coding uc011dba.2 frameshift insertion exon1 c.2450dupT p.L817fs GLIEVSLYQIFFLFFF GLIEVSLYQIFFLFFFL 8.0 10.0 - translate beyond stop codon PR 4345_5:140812775-140812775 ->T_GLIEVSLYQIFFLFFFL 0.0 2:27445408-27445408 G>T 0.0 4234 NSCLC - - - - CAD uc010eyw.3,p.G173W|NM_004341,p.G173W|uc002rji.3,p.G173W|ENST00000403525,p.G173W|ENST00000264705,p.G173W retained_intron, protein_coding, processed_transcript uc010eyw.3 nonsynonymous SNV exon5 c.G517T p.G173W EVSIKTPRVFNTGGAPRILALDCGL EVSIKTPRVFNTWGAPRILALDCGL 8.0 6.0 - - 4234_2:27445408-27445408 G>T_EVSIKTPRVFNTWGAPRILALDCGL 0.0 2:220479947-220479947 C>T 1.0 3713 MELANOMA - - - - STK11IP ENST00000295641,p.P1012S|NM_052902,p.P1012S|uc002vml.3,p.P1012S|ENST00000456909,p.P1001S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002vml.3 nonsynonymous SNV exon24 c.C3034T p.P1012S PAASGEASEKVPPSGPGPAVRVREQ PAASGEASEKVPSSGPGPAVRVREQ 5.0 2.0 - - 3713_2:220479947-220479947 C>T_PAASGEASEKVPSSGPGPAVRVREQ 0.0 6:93956590-93956590 T>G 0.0 4160 COLORECTAL - - - 2 EPHA7 uc011eac.2,p.K878N|NM_004440,p.K882N|ENST00000369303,p.K882N|uc003pof.3,p.K877N|NM_001288629,p.K877N|uc003poe.3,p.K882N protein_coding uc011eac.2 nonsynonymous SNV exon15 c.A2634C p.K878N LDCWQKERAERPKFEQIVGILDKMI LDCWQKERAERPNFEQIVGILDKMI 1.0 2.0 - - 4160_6:93956590-93956590 T>G_LDCWQKERAERPNFEQIVGILDKMI 0.0 4:114199081-114199081 C>G 0.0 4186 BREAST - - - - ANK2 ENST00000503423,p.S570C retained_intron, protein_coding, processed_transcript ENST00000503423 nonsynonymous SNV exon17 c.C1709G p.S570C AKLLLQRRAAADSAGKNGYTPLHIA AKLLLQRRAAADCAGKNGYTPLHIA 2.0 7.0 - - 4186_4:114199081-114199081 C>G_AKLLLQRRAAADCAGKNGYTPLHIA 0.0 7:122091488-122091488 C>T 1.0 3919 MELANOMA - - - - CADPS2 uc022akr.1,p.R743K|ENST00000313070,p.R740K|uc010lkq.3,p.R740K|ENST00000449022,p.R743K|ENST00000412584,p.R740K|NM_017954,p.R743K|NM_001009571,p.R740K|uc003vkg.4,p.R440K|ENST00000334010,p.R744K|NM_001167940,p.R743K protein_coding, processed_transcript uc022akr.1 nonsynonymous SNV exon15 c.G2228A p.R743K DGIGTVSVEEKERFEEIKERLSSLL DGIGTVSVEEKEKFEEIKERLSSLL 3.0 7.0 - - 3919_7:122091488-122091488 C>T_DGIGTVSVEEKEKFEEIKERLSSLL 0.0 12:113629545-113629545 C>T 1.0 2556 MELANOMA - - ID=COSM1561823;OCCURENCE=1(large_intestine) - RITA1 NM_001286215,p.R269C|NM_032848,p.R245C|ENST00000549621,p.R245C|ENST00000548278,p.R245C|ENST00000552495,p.R269C|uc001tur.1,p.R245C protein_coding uc001tur.1 nonsynonymous SNV exon4 c.C733T p.R245C VTFRSPLVTSRARSVSISVPSTPRR VTFRSPLVTSRACSVSISVPSTPRR 7.0 4.0 - - 2556_12:113629545-113629545 C>T_VTFRSPLVTSRACSVSISVPSTPRR 0.0 7:142460314-142460314 G>A 0.0 4326 BREAST - - - - PRSS1 ENST00000486171,p.A177T|ENST00000492062,p.A113T|uc003wak.2,p.A163T|NM_002769,p.A163T|ENST00000311737,p.A163T|uc003wam.2,p.A103T retained_intron, protein_coding uc003wam.2 nonsynonymous SNV exon2 c.G307A p.A103T GADYPDELQCLDAPVLSQAKCEASY GADYPDELQCLDTPVLSQAKCEASY 3.0 1.0 - - 4326_7:142460314-142460314 G>A_GADYPDELQCLDTPVLSQAKCEASY 0.0 14:24437989-24437989 C>G 0.0 4186 BREAST - - - - DHRS4 ENST00000558263,p.C180W|ENST00000382761,p.C162W|NM_001282987,p.C180W protein_coding NM_001282987 nonsynonymous SNV exon6 c.C540G p.C180W PADKKVRRARGLCWHRVFPVL PADKKVRRARGLWWHRVFPVL 9.0 5.0 - - 4186_14:24437989-24437989 C>G_PADKKVRRARGLWWHRVFPVL 0.0 17:55189857-55189857 C>G 1.0 4196 COLORECTAL - - - - AKAP1 uc010dcm.3,p.Q661E|ENST00000571629,p.Q661E|NM_003488,p.Q661E|uc021uak.1,p.Q661E|uc010wnl.2,p.Q661E|NM_001242903,p.Q661E|ENST00000573326,p.Q243E|ENST00000337714,p.Q661E|NM_001242902,p.Q661E|ENST00000539273,p.Q661E|uc002iux.3,p.Q661E|ENST00000572557,p.Q661E protein_coding, nonsense_mediated_decay uc021uak.1 nonsynonymous SNV exon6 c.C1981G p.Q661E TQSVQICHIEGSQHHVDKALNLIGK TQSVQICHIEGSEHHVDKALNLIGK 10.0 9.0 - - 4196_17:55189857-55189857 C>G_TQSVQICHIEGSEHHVDKALNLIGK 0.0 2:48033630-48033630 G>A 1.0 4189 MELANOMA - - - 1 MSH6 ENST00000538136,p.E979K|ENST00000234420,p.E1281K|NM_001281494,p.E979K|NM_001281492,p.E1151K|NM_000179,p.E1281K|uc002rwd.4,p.E1281K|uc010fbj.3,p.E979K|NM_001281493,p.E979K|uc010yoj.2,p.E979K|ENST00000540021,p.E1151K protein_coding, processed_transcript, nonsense_mediated_decay uc010yoj.2 nonsynonymous SNV exon9 c.G2935A p.E979K CMVENECEDPSQETITFLYKFIKGA CMVENECEDPSQKTITFLYKFIKGA 10.0 2.0 - - 4189_2:48033630-48033630 G>A_CMVENECEDPSQKTITFLYKFIKGA 0.0 X:152914821-152914821 G>A 0.0 4095 COLORECTAL - - - - DUSP9 uc004fhy.4,p.D170N|NM_001395,p.D170N|ENST00000342782,p.D170N|uc004fhx.4,p.D170N|ENST00000370167,p.D170N protein_coding, processed_transcript uc004fhy.4 nonsynonymous SNV exon3 c.G508A p.D170N PVVGLGSLCLGSDCSDAESEADRDS PVVGLGSLCLGSNCSDAESEADRDS 2.0 7.0 - - 4095_X:152914821-152914821 G>A_PVVGLGSLCLGSNCSDAESEADRDS 0.0 1:26135580-26135580 C>T 1.0 3466 MELANOMA - - - - SEPN1 ENST00000354177,p.P237S protein_coding, processed_transcript ENST00000354177 nonsynonymous SNV exon5 c.C709T p.P237S FHPRPFVKTRFAPQGAVACLTAISD FHPRPFVKTRFASQGAVACLTAISD 10.0 7.0 - - 3466_1:26135580-26135580 C>T_FHPRPFVKTRFASQGAVACLTAISD 0.0 X:63410414-63410414 G>A 1.0 3879 MELANOMA - - - 1 AMER1 NM_152424,p.S918F|uc022byb.1,p.S918F|uc004dvo.3,p.S918F|ENST00000330258,p.S918F protein_coding uc022byb.1 nonsynonymous SNV exon1 c.C2753T p.S918F LSNSHLVQGYLESDELQAQQEDSDE LSNSHLVQGYLEFDELQAQQEDSDE 5.0 10.0 - - 3879_X:63410414-63410414 G>A_LSNSHLVQGYLEFDELQAQQEDSDE 0.0 12:3757673-3757673 G>T 0.0 4326 BREAST - - - - CRACR2A uc001qmj.2,p.P385T|NM_032680,p.P385T|ENST00000252322,p.P385T protein_coding, processed_transcript, nonsense_mediated_decay uc001qmj.2 nonsynonymous SNV exon11 c.C1153A p.P385T RCVGGHWPVLRAPPRSLGSEGPV RCVGGHWPVLRATPRSLGSEGPV 5.0 1.0 - - 4326_12:3757673-3757673 G>T_RCVGGHWPVLRATPRSLGSEGPV 0.0 7:2962271-2962271 C>T 0.0 2591 MELANOMA - - ID=COSM1292494;OCCURENCE=1(skin),1(haematopoietic_and_lymphoid_tissue) 1 CARD11 NM_032415,p.E756K|ENST00000355508,p.E227K|uc003smv.3,p.E756K|ENST00000396946,p.E756K retained_intron, protein_coding uc003smv.3 nonsynonymous SNV exon17 c.G2266A p.E756K SGPVTLHYKVNHEGYRKLVKDMEDG SGPVTLHYKVNHKGYRKLVKDMEDG 1.0 2.0 - - 2591_7:2962271-2962271 C>T_SGPVTLHYKVNHKGYRKLVKDMEDG 0.0 14:20943231-20943231 C>T 1.0 3466 MELANOMA - - - - PNP uc001vxo.4,p.R158C|ENST00000361505,p.R158C|NM_000270,p.R158C|ENST00000553591,p.R197C|uc021rns.1,p.R29C retained_intron, protein_coding uc021rns.1 nonsynonymous SNV exon2 c.C85T p.R29C PLRGPNDERFGDRFPAMSDAYDRTM PLRGPNDERFGDCFPAMSDAYDRTM 8.0 4.0 - - 3466_14:20943231-20943231 C>T_PLRGPNDERFGDCFPAMSDAYDRTM 0.0 11:55135612-55135612 T>A 0.0 4281 COLORECTAL - - - - OR4A15 uc010rif.2,p.S85T|ENST00000314706,p.S85T|NM_001005275,p.S85T protein_coding uc010rif.2 nonsynonymous SNV exon1 c.T253A p.S85T IIVTIMASQSLGSPMYFFLASLSFI IIVTIMASQSLGTPMYFFLASLSFI 1.0 4.0 - - 4281_11:55135612-55135612 T>A_IIVTIMASQSLGTPMYFFLASLSFI 0.0 5:125911121-125911121 G>T 1.0 4180 BREAST - - - - ALDH7A1 ENST00000553117,p.A229D|NM_001201377,p.A201D|ENST00000409134,p.A229D|ENST00000510111,p.A200D|NM_001202404,p.A256D|NM_001182,p.A229D|uc011cxa.2,p.A256D|ENST00000447989,p.A256D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cxa.2 nonsynonymous SNV exon7 c.C767A p.A256D WKGAPTTSLISVAVTKIIAKVLEDN WKGAPTTSLISVDVTKIIAKVLEDN 9.0 4.0 - - 4180_5:125911121-125911121 G>T_WKGAPTTSLISVDVTKIIAKVLEDN 0.0 19:39329617-39329617 ->A 0.0 3998 MELANOMA - - - - HNRNPL uc002ojk.3,p.V80fs|uc002ojp.1,p.V80fs|ENST00000600873,p.V291fs|NM_001005335,p.V291fs|uc002ojl.3,p.V80fs|NM_001533,p.V424fs|uc021uui.1,p.V291fs|ENST00000221419,p.V424fs|uc021uuh.1,p.V424fs|uc002ojj.1,p.V80fs retained_intron, protein_coding, nonsense_mediated_decay uc021uui.1 frameshift insertion exon9 c.872dupT p.V291fs VKFMKSKPGAAMVEMADGYAVDRAI VKFMKSKPGAAMVGDG 10.0 9.0 - - 3998_19:39329617-39329617 ->A_VKFMKSKPGAAMVGDG 0.0 17:7127020-7127020 G>A 1.0 3775 CERVICAL - - - - ACADVL ENST00000543245,p.E437K|uc002gev.4,p.E414K|ENST00000350303,p.E392K|uc002gex.4,p.E338K|NM_001033859,p.E392K|uc002gew.4,p.E392K|NM_001270447,p.E437K|uc010vtp.3,p.E437K|ENST00000356839,p.E414K|NM_001270448,p.E338K|NM_000018,p.E414K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vtp.3 nonsynonymous SNV exon13 c.G1309A p.E437K ANMDQGATDFQIEAAISKIFGSEAA ANMDQGATDFQIKAAISKIFGSEAA 10.0 10.0 - - 3775_17:7127020-7127020 G>A_ANMDQGATDFQIKAAISKIFGSEAA 0.0 4:138452830-138452830 G>A 1.0 3919 MELANOMA - - - - PCDH18 uc003ihe.4,p.S138L|NM_019035,p.S138L|ENST00000344876,p.S138L|ENST00000412923,p.S138L|NM_001300828,p.S138L|uc003ihf.4,p.S131L protein_coding uc003ihf.4 nonsynonymous SNV exon1 c.C392T p.S131L EVLDINDNSPQFSRSLIPIEISESA EVLDINDNSPQFLRSLIPIEISESA 1.0 10.0 - - 3919_4:138452830-138452830 G>A_EVLDINDNSPQFLRSLIPIEISESA 0.0 X:54497148-54497148 G>- 1.0 4259 COLORECTAL - - ID=COSM1468675;OCCURENCE=3(large_intestine) - FGD1 NM_004463,p.P176fs|uc004dtg.3,p.P176fs|ENST00000375135,p.P176fs protein_coding uc004dtg.3 frameshift deletion exon3 c.527delC p.P176fs KPSYLQMPRMPPPLEPIPPPPSRPL KPSYLQMPRMPPHWSPSPLHHHAHCLPTPEWPRAWLPGQRPAPVLQQYPH 4.0 5.0 - - 4259_X:54497148-54497148 G>-_KPSYLQMPRMPPHWSPSPLHHHAHCLPTPEWPRAWLPGQRPAPVLQQYPH 0.0 12:21682018-21682018 G>A 0.0 2556 MELANOMA - - - - SPX NM_030572,p.D98N|ENST00000256969,p.D98N|uc001rfa.1,p.D98N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001rfa.1 nonsynonymous SNV exon5 c.G292A p.D98N TILLASLQKSPEDEEKNFDQTRFLE TILLASLQKSPENEEKNFDQTRFLE 4.0 3.0 - - 2556_12:21682018-21682018 G>A_TILLASLQKSPENEEKNFDQTRFLE 0.0 3:45963271-45963271 T>G 1.0 4136 BREAST - - - - FYCO1 uc003cpb.5,p.S1475R|ENST00000535325,p.S1495R|ENST00000438446,p.S146R|ENST00000296137,p.S1475R|NM_024513,p.S1475R|uc011bal.1,p.S1495R retained_intron, protein_coding uc011bal.1 nonsynonymous SNV exon18 c.A4483C p.S1495R HLTVDRPVIYDGSDFL HLTVDRPVIYDGRDFL 7.0 6.0 - - 4136_3:45963271-45963271 T>G_HLTVDRPVIYDGRDFL 0.0 4:119239674-119239674 C>T 1.0 3713 MELANOMA - - - - PRSS12 ENST00000296498,p.E337K|NM_003619,p.E337K|uc003ica.2,p.E337K retained_intron, protein_coding, processed_transcript uc003ica.2 nonsynonymous SNV exon5 c.G1009A p.E337K GIAKAWHQAYFGEGSGPVMLDEVRC GIAKAWHQAYFGKGSGPVMLDEVRC 3.0 9.0 - - 3713_4:119239674-119239674 C>T_GIAKAWHQAYFGKGSGPVMLDEVRC 0.0 1:27939744-27939744 C>T 0.0 3795 MELANOMA - - - - FGR NM_001042747,p.R456Q|NM_001042729,p.R456Q|uc001boj.3,p.R456Q|ENST00000374003,p.R456Q|ENST00000374004,p.R456Q|uc001bok.3,p.R456Q|uc001boi.3,p.R159Q|ENST00000399173,p.R456Q|uc001bom.3,p.R456Q|uc001bol.3,p.R456Q|ENST00000374005,p.R456Q|ENST00000545953,p.R390Q|NM_005248,p.R456Q protein_coding, processed_transcript uc001bom.3 nonsynonymous SNV exon12 c.G1367A p.R456Q FGILLTELITKGRIPYPGMNKREVL FGILLTELITKGQIPYPGMNKREVL 4.0 8.0 - - 3795_1:27939744-27939744 C>T_FGILLTELITKGQIPYPGMNKREVL 0.0 13:28143271-28143271 C>T 1.0 2556 MELANOMA - - - - LNX2 uc001url.4,p.G184S|NM_153371,p.G184S|uc001urm.1,p.G184S|ENST00000316334,p.G184S protein_coding uc001urm.1 nonsynonymous SNV exon3 c.G550A p.G184S GTLSPEADCLGTGAVPVERHLTSAS GTLSPEADCLGTSAVPVERHLTSAS 7.0 8.0 - - 2556_13:28143271-28143271 C>T_GTLSPEADCLGTSAVPVERHLTSAS 0.0 12:53070889-53070889 C>T 0.0 4245 COLORECTAL - - - - KRT1 ENST00000252244,p.R403H|NM_006121,p.R403H|uc001sav.1,p.R403H|uc001sau.1,p.R403H retained_intron, protein_coding uc001sav.1 nonsynonymous SNV exon6 c.G1208A p.R403H VRNSKIEISELNRVIQRLRSEIDNV VRNSKIEISELNHVIQRLRSEIDNV 4.0 10.0 - - 4245_12:53070889-53070889 C>T_VRNSKIEISELNHVIQRLRSEIDNV 0.0 2:138400076-138400076 G>A 0.0 4235 COLORECTAL - - - - THSD7B ENST00000272643,p.R1276Q|ENST00000409968,p.R1273Q|ENST00000413152,p.R1245Q retained_intron, protein_coding, processed_transcript ENST00000413152 nonsynonymous SNV exon21 c.G3734A p.R1245Q QTCGHGGRMSRTRFIIMPTQGEGRP QTCGHGGRMSRTQFIIMPTQGEGRP 2.0 5.0 - - 4235_2:138400076-138400076 G>A_QTCGHGGRMSRTQFIIMPTQGEGRP 0.0 22:31521399-31521399 C>T 0.0 3775 CERVICAL - - - - INPP5J uc011alk.2,p.S158L|ENST00000412277,p.S158L|NM_001284286,p.S158L|ENST00000331075,p.S225L|NM_001284285,p.S225L|uc003aju.4,p.S225L|uc010gwf.3,p.S225L retained_intron, protein_coding, processed_transcript uc011alk.2 nonsynonymous SNV exon3 c.C473T p.S158L TQEQALAPASTASGAASVGQTSARK TQEQALAPASTALGAASVGQTSARK 3.0 9.0 - - 3775_22:31521399-31521399 C>T_TQEQALAPASTALGAASVGQTSARK 0.0 15:22954270-22954270 C>T 1.0 3713 MELANOMA - - - - CYFIP1 ENST00000560848,p.H474Y|NM_001287810,p.H474Y|uc001yus.3,p.H474Y|uc010aya.1,p.H502Y|uc001yut.3,p.H474Y|NM_014608,p.H474Y|ENST00000313077,p.H474Y retained_intron, protein_coding, nonsense_mediated_decay uc010aya.1 nonsynonymous SNV exon13 c.C1504T p.H502Y QVLMGRMESVFNHAIRHTVYAALQD QVLMGRMESVFNYAIRHTVYAALQD 7.0 8.0 - - 3713_15:22954270-22954270 C>T_QVLMGRMESVFNYAIRHTVYAALQD 0.0 6:44116291-44116291 C>T 1.0 3466 MELANOMA - - - - TMEM63B uc003ows.3,p.T291I|ENST00000259746,p.T388I|uc003owr.3,p.T388I|NM_018426,p.T388I|ENST00000323267,p.T388I|uc003owq.1,p.T388I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003ows.3 nonsynonymous SNV exon11 c.C872T p.T291I LKDFNVCKCQGCTCRGEPRPSSCSE LKDFNVCKCQGCICRGEPRPSSCSE 8.0 9.0 - - 3466_6:44116291-44116291 C>T_LKDFNVCKCQGCICRGEPRPSSCSE 0.0 4:145039891-145039891 G>T 0.0 4258 ENDOMETRIAL - - - - GYPA uc003ijp.4,p.L51I|ENST00000504786,p.L51I retained_intron, protein_coding, nonsense_mediated_decay uc003ijp.4 nonsynonymous SNV exon3 c.C151A p.L51I YISSQTNGERVQLAHHFSEPEITLI YISSQTNGERVQIAHHFSEPEITLI 1.0 9.0 - - 4258_4:145039891-145039891 G>T_YISSQTNGERVQIAHHFSEPEITLI 0.0 7:1526409-1526409 C>G 1.0 4071 COLORECTAL - - - - INTS1 uc003skn.2,p.R943T|NM_001080453,p.R943T|ENST00000389470,p.R1086T|uc003skp.1,p.R290T|ENST00000404767,p.R943T retained_intron, protein_coding, processed_transcript uc003skp.1 nonsynonymous SNV exon8 c.G869C p.R290T GESKEQKAKKRQRQQKQRQLLGRLQ GESKEQKAKKRQTQQKQRQLLGRLQ 9.0 1.0 - - 4071_7:1526409-1526409 C>G_GESKEQKAKKRQTQQKQRQLLGRLQ 0.0 1:227171317-227171317 G>A 1.0 4180 BREAST - - - - ADCK3 uc001hqo.1,p.S103N|uc009xeq.1,p.S330N|uc001hqn.1,p.S382N|uc010pvq.1,p.S103N|ENST00000433743,p.S56N|ENST00000366779,p.S382N|ENST00000366778,p.S330N|ENST00000366777,p.S382N|uc010pvr.1,p.S56N|uc001hqm.1,p.S382N|ENST00000458507,p.S103N|NM_020247,p.S382N|ENST00000366776,p.S307N|ENST00000366775,p.S227N protein_coding, processed_transcript uc010pvr.1 nonsynonymous SNV exon5 c.G167A p.S56N SDVNNLMAVLNMSNMLPEGLFPEHL SDVNNLMAVLNMNNMLPEGLFPEHL 9.0 7.0 - - 4180_1:227171317-227171317 G>A_SDVNNLMAVLNMNNMLPEGLFPEHL 0.0 8:97318737-97318737 T>G 1.0 4071 COLORECTAL - - - - PTDSS1 ENST00000517309,p.S320R|NM_014754,p.S320R|ENST00000455950,p.S174R|ENST00000522072,p.S117R|NM_001290225,p.S174R|uc003yht.1,p.S320R|uc003yhu.1,p.S174R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003yhu.1 nonsynonymous SNV exon6 c.T522G p.S174R KHIFVFQASHPLSWGRILFIGGITA KHIFVFQASHPLRWGRILFIGGITA 9.0 2.0 - - 4071_8:97318737-97318737 T>G_KHIFVFQASHPLRWGRILFIGGITA 0.0 2:168103957-168103957 C>T 0.0 2591 MELANOMA - - - - XIRP2 NM_152381,p.P2019S|uc010fpq.3,p.P1797S|uc002udy.3,p.P1844S|uc002udx.3,p.P2019S|ENST00000409273,p.P1797S|NM_001199144,p.P1797S|ENST00000409195,p.P2019S|ENST00000295237,p.P2019S protein_coding uc010fpq.3 nonsynonymous SNV exon7 c.C5389T p.P1797S GNLVEERTEVNLPKAPKGTVKIVID GNLVEERTEVNLSKAPKGTVKIVID 1.0 8.0 - - 2591_2:168103957-168103957 C>T_GNLVEERTEVNLSKAPKGTVKIVID 0.0 12:25398284-25398284 C>T 1.0 4095 COLORECTAL - - ID=COSM521,COSM1135366;OCCURENCE=1(salivary_gland),171(endometrium),265(ovary),20(soft_tissue),19(urinary_tract),1(kidney),2323(pancreas),15(liver),3(eye),22(prostate),321(biliary_tract),6237(large_intestine),18(breast),24(skin),58(small_intestine),25(upper_aerodigestive_tract),10(oesophagus),4(central_nervous_system),93(stomach),2(testis),19(cervix),114(haematopoietic_and_lymphoid_tissue),15(gastrointestinal_tract_(site_indeterminate)),37(thyroid),737(lung),25(peritoneum) 1 KRAS NM_004985,p.G12D|NM_033360,p.G12D|uc001rgp.1,p.G12D|ENST00000557334,p.G12D|uc001rgq.1,p.G12D|ENST00000311936,p.G12D|ENST00000256078,p.G12D|ENST00000556131,p.G12D protein_coding uc001rgq.1 nonsynonymous SNV exon2 c.G35A p.G12D MTEYKLVVVGAGGVGKSALTIQLI MTEYKLVVVGADGVGKSALTIQLI 9.0 6.0 CD8 - 4095_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI 1.0 X:151935260-151935260 G>A 1.0 3879 MELANOMA - - - - MAGEA3 uc004fgp.3,p.P303S|ENST00000370278,p.P303S|NM_005362,p.P303S|uc022chl.1,p.P303S|ENST00000393902,p.P303S protein_coding uc022chl.1 nonsynonymous SNV exon1 c.C907T p.P303S VKISGGPHISYPPLHEWVLREGEE VKISGGPHISYPSLHEWVLREGEE 7.0 10.0 - - 3879_X:151935260-151935260 G>A_VKISGGPHISYPSLHEWVLREGEE 0.0 3:38945468-38945468 G>A 0.0 4316 COLORECTAL - - ID=COSM1422884;OCCURENCE=1(large_intestine) - SCN11A ENST00000450244,p.P577L|NM_014139,p.P577L|uc021wvy.1,p.P577L|ENST00000444237,p.P577L|ENST00000456224,p.P577L|ENST00000302328,p.P577L|NM_001287223,p.P577L protein_coding uc021wvy.1 nonsynonymous SNV exon12 c.C1730T p.P577L CVKKVLRTVMTDPFTELAITICIII CVKKVLRTVMTDLFTELAITICIII 1.0 7.0 - - 4316_3:38945468-38945468 G>A_CVKKVLRTVMTDLFTELAITICIII 0.0 2:179598064-179598064 T>G 0.0 4245 COLORECTAL - - - - TTN ENST00000342992,p.K4075T|uc031rqd.1,p.K5002T|uc002umz.1,p.K736T|ENST00000591111,p.K5002T|NM_133378,p.K4075T|ENST00000589042,p.K5319T|uc031rqc.1,p.K5319T|uc021vsy.2,p.K4075T|NM_001256850,p.K5002T|NM_001267550,p.K5319T retained_intron, protein_coding uc031rqd.1 nonsynonymous SNV exon52 c.A15005C p.K5002T YRISFKNNVAQLKFYSAELHDSGQY YRISFKNNVAQLTFYSAELHDSGQY 5.0 5.0 - - 4245_2:179598064-179598064 T>G_YRISFKNNVAQLTFYSAELHDSGQY 0.0 3:197518226-197518226 C>A 1.0 4000 MELANOMA - - - - LRCH3 uc011bul.1,p.P26H|ENST00000443727,p.P26H|ENST00000441090,p.P26H|ENST00000438796,p.P26H|uc003fyj.1,p.P26H|ENST00000425562,p.P26H|ENST00000334859,p.P26H|NM_032773,p.P26H|uc011bun.1,p.P26H|ENST00000414675,p.P26H|uc011bum.1,p.P26H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bun.1 nonsynonymous SNV exon1 c.C77A p.P26H EYSGTVASGGNLPGVHCGPSSGAGP EYSGTVASGGNLHGVHCGPSSGAGP 10.0 9.0 - - 4000_3:197518226-197518226 C>A_EYSGTVASGGNLHGVHCGPSSGAGP 0.0 1:145487372-145487372 G>T 1.0 4095 COLORECTAL - - - - LIX1L ENST00000369308,p.G121W|NM_153713,p.G121W|uc001enr.3,p.G121W protein_coding uc001enr.3 nonsynonymous SNV exon2 c.G361T p.G121W QMKQSRGADLKNGALVVYEMVPSNS QMKQSRGADLKNWALVVYEMVPSNS 8.0 6.0 - - 4095_1:145487372-145487372 G>T_QMKQSRGADLKNWALVVYEMVPSNS 0.0 10:16981131-16981131 T>C 1.0 3678 MELANOMA - - - - CUBN NM_001081,p.N1855S|ENST00000377833,p.N1855S|uc001ioo.3,p.N1855S protein_coding uc001ioo.3 nonsynonymous SNV exon38 c.A5564G p.N1855S FQATFMKIFGNDNIVGTHGKVASPF FQATFMKIFGNDSIVGTHGKVASPF 6.0 2.0 - - 3678_10:16981131-16981131 T>C_FQATFMKIFGNDSIVGTHGKVASPF 0.0 5:140580161-140580161 G>A 1.0 2556 MELANOMA - - - - PCDHB11 uc003liy.3,p.G272R|NM_018931,p.G272R|ENST00000354757,p.G272R protein_coding uc003liy.3 nonsynonymous SNV exon1 c.G814A p.G272R LILIVSAWDLDSGTNGEICYTFSHA LILIVSAWDLDSRTNGEICYTFSHA 5.0 6.0 - - 2556_5:140580161-140580161 G>A_LILIVSAWDLDSRTNGEICYTFSHA 0.0 X:102755347-102755347 T>G 1.0 4284 COLORECTAL - - - - RAB40A uc004ekk.3,p.E113A|ENST00000372633,p.E113A|ENST00000304236,p.E113A|uc022cbs.1,p.E113A|NM_080879,p.E113A protein_coding uc022cbs.1 nonsynonymous SNV exon1 c.A338C p.E113A SFEGMDRWIKKIEEHAPGVPKILVG SFEGMDRWIKKIAEHAPGVPKILVG 4.0 6.0 - - 4284_X:102755347-102755347 T>G_SFEGMDRWIKKIAEHAPGVPKILVG 0.0 5:171765929-171765929 C>G 0.0 4240 BREAST - - - - SH3PXD2B ENST00000311601,p.R727T|NM_001017995,p.R727T|uc003mbr.3,p.R727T protein_coding, processed_transcript uc003mbr.3 nonsynonymous SNV exon13 c.G2180C p.R727T KQDGLSPKEISCRAPPRPAKTTDPV KQDGLSPKEISCTAPPRPAKTTDPV 6.0 6.0 - - 4240_5:171765929-171765929 C>G_KQDGLSPKEISCTAPPRPAKTTDPV 0.0 13:102029307-102029307 C>T 0.0 4213 COLORECTAL - - - - NALCN uc001vpa.2,p.R159Q|ENST00000376196,p.R159Q|uc001vox.1,p.R159Q|ENST00000376200,p.R159Q|ENST00000251127,p.R159Q|uc001voz.2,p.R159Q|NM_052867,p.R159Q retained_intron, protein_coding, processed_transcript uc001vpa.2 nonsynonymous SNV exon5 c.G476A p.R159Q PLIMIRAFRIYFRFELPRTRITNIL PLIMIRAFRIYFQFELPRTRITNIL 5.0 10.0 - - 4213_13:102029307-102029307 C>T_PLIMIRAFRIYFQFELPRTRITNIL 0.0 14:19566033-19566033 C>G 0.0 4326 BREAST - - - - POTEG NM_001005356,p.D359E|ENST00000547889,p.D359E|uc001vuz.1,p.D359E|ENST00000409832,p.D359E protein_coding, nonsense_mediated_decay uc001vuz.1 nonsynonymous SNV exon6 c.C1077G p.D359E SSHHNVICQLLSDYKEKQMLKVSSE SSHHNVICQLLSEYKEKQMLKVSSE 4.0 3.0 - - 4326_14:19566033-19566033 C>G_SSHHNVICQLLSEYKEKQMLKVSSE 0.0 14:93649843-93649843 C>T 1.0 4234 NSCLC - - - - MOAP1 ENST00000556883,p.E249K|NM_022151,p.E249K|ENST00000298894,p.E249K|uc001ybj.3,p.E249K|uc021saw.1,p.E249K protein_coding uc021saw.1 nonsynonymous SNV exon1 c.G745A p.E249K LEEVFGVTDNPRELQVKYLTTYQKD LEEVFGVTDNPRKLQVKYLTTYQKD 8.0 3.0 - - 4234_14:93649843-93649843 C>T_LEEVFGVTDNPRKLQVKYLTTYQKD 0.0 10:104679735-104679735 T>A 0.0 4335 COLORECTAL - - - - CNNM2 uc001kwn.3,p.L500M|ENST00000457502,p.L258M|ENST00000433628,p.L500M|uc001kwl.3,p.L500M|NM_017649,p.L500M|ENST00000369875,p.L500M|ENST00000369878,p.L500M|NM_199076,p.L500M|NM_199077,p.L500M|uc001kwm.3,p.L500M protein_coding, processed_transcript uc001kwn.3 nonsynonymous SNV exon1 c.T1498A p.L500M RSNIVDLLFVKDLAFVDPDDCTPLK RSNIVDLLFVKDMAFVDPDDCTPLK 7.0 6.0 - - 4335_10:104679735-104679735 T>A_RSNIVDLLFVKDMAFVDPDDCTPLK 0.0 3:122632712-122632712 C>T 0.0 4258 ENDOMETRIAL - - ID=COSM1536202,COSM1536203;OCCURENCE=1(lung) - SEMA5B uc031sbm.1,p.E763K|ENST00000195173,p.E709K|NM_001256348,p.E651K|ENST00000393583,p.E709K|NM_001031702,p.E709K|uc010hro.2,p.E651K|ENST00000357599,p.E709K|uc011bju.2,p.E651K|ENST00000451055,p.E763K|uc003egb.2,p.E709K|NM_001256347,p.E763K|uc003efz.2,p.E709K|NM_001256346,p.E709K|ENST00000475244,p.E709K protein_coding, processed_transcript, nonsense_mediated_decay uc031sbm.1 nonsynonymous SNV exon15 c.G2287A p.E763K RHGGRICVGKSREERFCNENTPCPV RHGGRICVGKSRKERFCNENTPCPV 5.0 7.0 - - 4258_3:122632712-122632712 C>T_RHGGRICVGKSRKERFCNENTPCPV 0.0 8:121644686-121644686 T>G 0.0 4246 COLORECTAL - - - - SNTB1 uc010mdg.3,p.K332Q|ENST00000517992,p.K332Q|ENST00000395601,p.K332Q|NM_021021,p.K332Q|uc003ype.3,p.K332Q protein_coding, processed_transcript, nonsense_mediated_decay uc010mdg.3 nonsynonymous SNV exon3 c.A994C p.K332Q SREIRHLGWLAEKVPGESKKQWKPA SREIRHLGWLAEQVPGESKKQWKPA 8.0 2.0 - - 4246_8:121644686-121644686 T>G_SREIRHLGWLAEQVPGESKKQWKPA 0.0 6:17675906-17675906 G>A 1.0 3879 MELANOMA - - - - NUP153 NM_001278209,p.P144S|ENST00000537253,p.P144S|uc003ncd.2,p.P144S|NM_001278210,p.P144S|uc011dje.2,p.P144S|uc010jpl.2,p.P144S|ENST00000262077,p.P144S|NM_005124,p.P144S protein_coding uc011dje.2 nonsynonymous SNV exon3 c.C430T p.P144S HRSHLNFSMLESPALHCQPSTSSAF HRSHLNFSMLESSALHCQPSTSSAF 9.0 9.0 - - 3879_6:17675906-17675906 G>A_HRSHLNFSMLESSALHCQPSTSSAF 0.0 6:30955865-30955865 G>A 0.0 3903 MELANOMA - - - - MUC21 ENST00000376296,p.G532E|uc021yuf.1,p.G516E|NM_001010909,p.G532E|uc003nsh.2,p.G532E|ENST00000486149,p.G78E protein_coding uc021yuf.1 nonsynonymous SNV exon2 c.G1547A p.G516E HGLNHGLGPGPGGNHGAPHRPRWSP HGLNHGLGPGPGENHGAPHRPRWSP 1.0 9.0 - - 3903_6:30955865-30955865 G>A_HGLNHGLGPGPGENHGAPHRPRWSP 0.0 17:30500899-30500899 A>T 1.0 4234 NSCLC - - - - RHOT1 ENST00000581031,p.E49V|NM_001033566,p.E49V|uc002hgy.3,p.E49V|NM_001288755,p.E28V|NM_018307,p.E49V|ENST00000394692,p.E49V|uc002hgv.3,p.E49V|NM_001288754,p.E49V|uc002hhb.3,p.E28V|uc010wby.2,p.E49V|NM_001033568,p.E49V|ENST00000354266,p.E28V|ENST00000581094,p.E49V|ENST00000358365,p.E49V|ENST00000545287,p.E49V|ENST00000333942,p.E49V|uc002hgw.3,p.E49V|uc002hgz.3,p.E49V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wby.2 nonsynonymous SNV exon3 c.A146T p.E49V AEEITIPADVTPERVPTHIVDYSEA AEEITIPADVTPVRVPTHIVDYSEA 9.0 9.0 - - 4234_17:30500899-30500899 A>T_AEEITIPADVTPVRVPTHIVDYSEA 0.0 9:33798546-33798546 G>T 0.0 4046 OVARIAN - - - - PRSS3 ENST00000361005,p.A230S|uc022bfu.1,p.A166S|NM_002771,p.A173S|ENST00000342836,p.A187S|uc003ztj.4,p.A230S|ENST00000379405,p.A173S|NM_001197097,p.A187S|NM_007343,p.A230S|uc003ztl.4,p.A173S|NM_001197098,p.A166S|ENST00000429677,p.A166S|uc003zti.4,p.A187S protein_coding, processed_transcript uc022bfu.1 nonsynonymous SNV exon4 c.G496T p.A166S LDAPVLTQAECKASYPGKITNSMFC LDAPVLTQAECKSSYPGKITNSMFC 6.0 3.0 - - 4046_9:33798546-33798546 G>T_LDAPVLTQAECKSSYPGKITNSMFC 0.0 15:43668777-43668777 C>T 1.0 4000 MELANOMA - - - - TUBGCP4 NM_014444,p.S95F|ENST00000260383,p.S95F|ENST00000564079,p.S95F|uc001zrn.3,p.S95F|NM_001286414,p.S95F|uc001zro.3,p.S95F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001zro.3 nonsynonymous SNV exon3 c.C284T p.S95F GIYLRAFCTGLDSVLQPYRQALLDL GIYLRAFCTGLDFVLQPYRQALLDL 7.0 10.0 - - 4000_15:43668777-43668777 C>T_GIYLRAFCTGLDFVLQPYRQALLDL 0.0 6:138656191-138656191 T>G 0.0 4345 COLORECTAL - - - - KIAA1244 NM_020340,p.L2070V|ENST00000251691,p.L2070V|uc003qhu.3,p.L2070V protein_coding uc003qhu.3 nonsynonymous SNV exon33 c.T6208G p.L2070V GQDSPLLQRPQHLMDQGQMRHSFSA GQDSPLLQRPQHVMDQGQMRHSFSA 5.0 4.0 - - 4345_6:138656191-138656191 T>G_GQDSPLLQRPQHVMDQGQMRHSFSA 0.0 2:108622514-108622514 G>A 0.0 2359 MELANOMA - - - - SLC5A7 NM_021815,p.G251R|uc002tdv.3,p.G251R|ENST00000540517,p.G146R|uc010fjj.3,p.G251R|ENST00000264047,p.G251R|uc010ywn.2,p.G138R|ENST00000409059,p.G251R protein_coding uc010ywn.2 nonsynonymous SNV exon6 c.G412A p.G138R SWLDSFLLLMLGGIPWQAYFQRVLS SWLDSFLLLMLGRIPWQAYFQRVLS 1.0 7.0 - - 2359_2:108622514-108622514 G>A_SWLDSFLLLMLGRIPWQAYFQRVLS 0.0 2:148733485-148733485 C>G 0.0 4196 COLORECTAL - - - - ORC4 ENST00000535373,p.E15Q|ENST00000457954,p.E15Q|ENST00000264169,p.E15Q|NM_181741,p.E15Q|uc002twj.3,p.E15Q|ENST00000392858,p.E15Q|uc021vqr.1,p.E15Q|NM_001190879,p.E15Q|NM_181742,p.E15Q|ENST00000440042,p.E15Q|uc002twk.3,p.E15Q|ENST00000416719,p.E15Q|ENST00000392857,p.E15Q|uc010zbr.2,p.E15Q|uc002twi.3,p.E15Q|NM_002552,p.E15Q retained_intron, protein_coding, processed_transcript uc021vqr.1 nonsynonymous SNV exon3 c.G43C p.E15Q SRKSKSNSLIHTECLSQVQRILRER SRKSKSNSLIHTQCLSQVQRILRER 10.0 8.0 - - 4196_2:148733485-148733485 C>G_SRKSKSNSLIHTQCLSQVQRILRER 0.0 8:99962995-99962995 T>A 0.0 4155 MELANOMA - - - - OSR2 ENST00000523368,p.F256L|uc010mbn.2,p.F256L protein_coding, processed_transcript uc010mbn.2 nonsynonymous SNV exon3 c.T768A p.F256L AVHKTLHMQVSLFSCLKTVAGSCYH AVHKTLHMQVSLLSCLKTVAGSCYH 4.0 8.0 - - 4155_8:99962995-99962995 T>A_AVHKTLHMQVSLLSCLKTVAGSCYH 0.0 4:81504276-81504276 A>C 0.0 2591 MELANOMA - - - - C4orf22 ENST00000358105,p.Q91P|uc003hmf.3,p.Q91P|ENST00000513920,p.Q91P|NM_152770,p.Q91P|NM_001206997,p.Q91P|uc010ijp.3,p.Q91P|ENST00000508675,p.Q91P protein_coding, processed_transcript, nonsense_mediated_decay uc010ijp.3 nonsynonymous SNV exon3 c.A272C p.Q91P QQKTLTSAGKDLQDNFLTALAMREE QQKTLTSAGKDLPDNFLTALAMREE 1.0 6.0 - - 2591_4:81504276-81504276 A>C_QQKTLTSAGKDLPDNFLTALAMREE 0.0 10:100481584-100481584 C>A 0.0 4158 COLORECTAL - - - - HPSE2 ENST00000404542,p.E150D|uc009xwd.2,p.E150D|NM_001166245,p.E150D protein_coding uc009xwd.2 nonsynonymous SNV exon3 c.G450T p.E150D PGPDYYLKNYEDEPNNYRTMHGRAV PGPDYYLKNYEDDPNNYRTMHGRAV 2.0 7.0 - - 4158_10:100481584-100481584 C>A_PGPDYYLKNYEDDPNNYRTMHGRAV 0.0 13:114762201-114762201 G>C 1.0 4284 COLORECTAL - - - - RASA3 ENST00000334062,p.I649M|ENST00000389544,p.I617M|uc001vuj.3,p.I266M|uc001vui.3,p.I649M|NM_007368,p.I649M|uc010tkk.2,p.I617M protein_coding uc010tkk.2 nonsynonymous SNV exon21 c.C1851G p.I617M EESFKMKNMFQVIQPERALYIQANN EESFKMKNMFQVMQPERALYIQANN 8.0 6.0 - - 4284_13:114762201-114762201 G>C_EESFKMKNMFQVMQPERALYIQANN 0.0 7:77408022-77408022 A>G 1.0 4258 ENDOMETRIAL - - - - RSBN1L ENST00000441514,p.I164M retained_intron, protein_coding ENST00000441514 nonsynonymous SNV exon4 c.A492G p.I164M CMQFSMAYSAQIISLRGGHFSEYSY CMQFSMAYSAQIMSLRGGHFSEYSY 8.0 4.0 - - 4258_7:77408022-77408022 A>G_CMQFSMAYSAQIMSLRGGHFSEYSY 0.0 X:140995685-140995685 G>T 0.0 4316 COLORECTAL - - - - MAGEC1 NM_005462,p.S832I|ENST00000285879,p.S832I|uc022cfi.1,p.S491I|uc004fbt.3,p.S832I protein_coding uc022cfi.1 nonsynonymous SNV exon1 c.G1472T p.S491I STSSSLSQSSPVSSFPSSTSSSLSK STSSSLSQSSPVISFPSSTSSSLSK 1.0 6.0 - - 4316_X:140995685-140995685 G>T_STSSSLSQSSPVISFPSSTSSSLSK 0.0 5:52225500-52225500 G>A 1.0 3879 MELANOMA - - - - ITGA1 ENST00000282588,p.E914K|NM_181501,p.E914K|uc003jow.3,p.E445K|uc003jou.3,p.E914K retained_intron, protein_coding, processed_transcript uc003jow.3 nonsynonymous SNV exon10 c.G1333A p.E445K KILFQFNTSYLMENVTIYLSATSDS KILFQFNTSYLMKNVTIYLSATSDS 9.0 5.0 - - 3879_5:52225500-52225500 G>A_KILFQFNTSYLMKNVTIYLSATSDS 0.0 16:75446453-75446453 G>A 1.0 3919 MELANOMA - - - - CFDP1 NM_006324,p.P128S|uc002fdy.3,p.P128S|uc002fea.1,p.P128S|ENST00000283882,p.P128S|uc002fdz.3,p.P42S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002fea.1 nonsynonymous SNV exon3 c.C382T p.P128S SFLNDVGPKSKVPPSTQVKKGEETE SFLNDVGPKSKVSPSTQVKKGEETE 8.0 7.0 CD8 - 3919_16:75446453-75446453 G>A_SFLNDVGPKSKVSPSTQVKKGEETE 2.0 2:1982953-1982953 A>G 0.0 4246 COLORECTAL - - - - MYT1L ENST00000428368,p.Y46H|ENST00000399161,p.Y46H|uc002qxd.3,p.Y46H|NM_015025,p.Y46H|uc002qxe.3,p.Y46H retained_intron, protein_coding, processed_transcript uc002qxe.3 nonsynonymous SNV exon8 c.T136C p.Y46H PGCDGSGHVSGKYARHRSVYGCPLA PGCDGSGHVSGKHARHRSVYGCPLA 4.0 3.0 - - 4246_2:1982953-1982953 A>G_PGCDGSGHVSGKHARHRSVYGCPLA 0.0 3:194313778-194313778 A>T 0.0 4335 COLORECTAL - - - - TMEM44 ENST00000432352,p.S159T|ENST00000273580,p.S401T|uc021xjc.1,p.S133T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021xjc.1 nonsynonymous SNV exon5 c.T397A p.S133T SDLEQKYWEALNSEQWDPEDVNLEG SDLEQKYWEALNTEQWDPEDVNLEG 6.0 1.0 - - 4335_3:194313778-194313778 A>T_SDLEQKYWEALNTEQWDPEDVNLEG 0.0 11:31086577-31086577 A>C 0.0 4238 COLORECTAL - - ID=COSM1269902;OCCURENCE=1(oesophagus) - DCDC5,DCDC1 uc009yjk.1,p.L256V|ENST00000597505,p.L808V|uc009yjl.1,p.L184V|uc001msu.2,p.L427V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009yjl.1 nonsynonymous SNV exon9 c.T550G p.L184V AWTTAHQEHGRNLAEEVLQESASNL AWTTAHQEHGRNVAEEVLQESASNL 2.0 8.0 - - 4238_11:31086577-31086577 A>C_AWTTAHQEHGRNVAEEVLQESASNL 0.0 20:44511429-44511429 C>G 1.0 3795 MELANOMA - - - - ZSWIM1 ENST00000372520,p.C66W|uc010ghi.3,p.C66W|NM_080603,p.C66W|ENST00000372523,p.C66W|uc021wem.1,p.C66W protein_coding uc021wem.1 nonsynonymous SNV exon1 c.C198G p.C66W KTAQLDTFNYQSCFMQSVFDHFPEI KTAQLDTFNYQSWFMQSVFDHFPEI 6.0 2.0 - - 3795_20:44511429-44511429 C>G_KTAQLDTFNYQSWFMQSVFDHFPEI 0.0 16:701042-701042 C>T 1.0 4000 MELANOMA - - - - WDR90 uc002cii.1,p.R203W|uc002cih.1,p.R203W|uc002cig.1,p.R203W|ENST00000549091,p.R203W|ENST00000293879,p.R203W|NM_145294,p.R203W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002cii.1 nonsynonymous SNV exon6 c.C607T p.R203W AQWAKLPVTPMPREMAFPVPKGESW AQWAKLPVTPMPWEMAFPVPKGESW 7.0 5.0 - - 4000_16:701042-701042 C>T_AQWAKLPVTPMPWEMAFPVPKGESW 0.0 6:106649928-106649928 G>A 1.0 3713 MELANOMA - - - - ATG5 uc031spi.1,p.R204C|ENST00000343245,p.R204C|NM_001286106,p.R204C|NM_001286107,p.R126C|uc003prf.3,p.R204C|uc003prg.3,p.R126C|ENST00000369070,p.R126C|ENST00000369076,p.R204C|NM_004849,p.R204C protein_coding, processed_transcript uc031spi.1 nonsynonymous SNV exon7 c.C610T p.R204C TTTERPFIQKLFRPVAADGQLHTLG TTTERPFIQKLFCPVAADGQLHTLG 5.0 6.0 - - 3713_6:106649928-106649928 G>A_TTTERPFIQKLFCPVAADGQLHTLG 0.0 X:41204458-41204458 C>-, X:41204454-41204455 TG>- 0.0 4189 MELANOMA - - - 1 DDX3X NM_001193417,p.R335fs|uc011mkq.2,p.R335fs|uc004dff.3,p.R351fs|ENST00000399959,p.R351fs|NM_001356,p.R351fs|uc004dfe.3,p.R351fs|ENST00000457138,p.R335fs|NM_001193416,p.R351fs|uc011mkr.2,p.R351fs protein_coding, processed_transcript uc011mkr.2 frameshift deletion exon11 c.1051delC p.R351fs GLDFCKYLVLDEADRMLDMGFEPQI GLDFCKYLVLDEAWMLDMGFEPQIRR 10.0 10.0 CD8 fs, fs PR 4189_X:41204458-41204458 C>-, X:41204454-41204455 TG>-_GLDFCKYLVLDEAWMLDMGFEPQIRR 1.0 7:104746043-104746043 C>T 1.0 4071 COLORECTAL - - - - KMT2E ENST00000334884,p.S785F|NM_182931,p.S785F|ENST00000334877,p.S785F|uc003vcm.3,p.S785F|NM_018682,p.S785F|ENST00000257745,p.S785F|uc031syt.1,p.S785F|ENST00000311117,p.S785F|uc010ljc.3,p.S785F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031syt.1 nonsynonymous SNV exon16 c.C2354T p.S785F SLPGLTYSPHVYSTPKHYIRFTSPF SLPGLTYSPHVYFTPKHYIRFTSPF 10.0 10.0 - - 4071_7:104746043-104746043 C>T_SLPGLTYSPHVYFTPKHYIRFTSPF 0.0 6:31778497-31778497 C>T 1.0 4196 COLORECTAL - - ID=COSM3783977;OCCURENCE=1(prostate) - HSPA1L NM_005527,p.R418H|uc021yuz.1,p.R418H|ENST00000375654,p.R418H|uc003nxh.3,p.R418H|uc010jte.3,p.R418H|ENST00000417199,p.R418H protein_coding uc021yuz.1 nonsynonymous SNV exon1 c.G1253A p.R418H ETAGGVMTALIKRNSTIPTKQTQIF ETAGGVMTALIKHNSTIPTKQTQIF 7.0 3.0 - - 4196_6:31778497-31778497 C>T_ETAGGVMTALIKHNSTIPTKQTQIF 0.0 1:223176829-223176829 C>T 0.0 4077 BILE DUCT - - - - DISP1 NM_032890,p.A697V|uc001hnu.2,p.A697V|ENST00000284476,p.A697V protein_coding, processed_transcript uc001hnu.2 nonsynonymous SNV exon10 c.C2090T p.A697V TVACQKCHKVLFAISEASRIFFEKV TVACQKCHKVLFVISEASRIFFEKV 5.0 2.0 - - 4077_1:223176829-223176829 C>T_TVACQKCHKVLFVISEASRIFFEKV 0.0 6:159655394-159655394 C>T 0.0 4246 COLORECTAL - - - - FNDC1 uc010kjv.3,p.R1284C|NM_032532,p.R1284C|ENST00000297267,p.R1284C|uc010kjw.1,p.R1169C|ENST00000340366,p.R1221C protein_coding, processed_transcript uc010kjw.1 nonsynonymous SNV exon9 c.C3505T p.R1169C VAGTHPWPQYTTRAPPGHFSTTPML VAGTHPWPQYTTCAPPGHFSTTPML 2.0 9.0 - - 4246_6:159655394-159655394 C>T_VAGTHPWPQYTTCAPPGHFSTTPML 0.0 12:10462056-10462056 C>T 0.0 4252 COLORECTAL 0.0005 - ID=COSM3687909;OCCURENCE=1(large_intestine) - KLRD1 uc001qxw.4,p.T26M|uc001qxx.4,p.T26M|NM_001114396,p.T26M|NM_002262,p.T26M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001qxx.4 nonsynonymous SNV exon2 c.C77T p.T26M GTLGIICLSLMATLGILLKNSFTKL GTLGIICLSLMAMLGILLKNSFTKL 6.0 7.0 - - 4252_12:10462056-10462056 C>T_GTLGIICLSLMAMLGILLKNSFTKL 0.0 5:167857154-167857154 G>T 1.0 4095 COLORECTAL - - - - WWC1 ENST00000521089,p.K671N|uc011den.2,p.K671N|uc003lzu.3,p.K671N|ENST00000265293,p.K671N|uc003lzv.3,p.K671N|NM_001161662,p.K671N|NM_001161661,p.K671N|uc003lzw.3,p.K470N|NM_015238,p.K671N retained_intron, protein_coding, processed_transcript, TEC uc011den.2 nonsynonymous SNV exon14 c.G2013T p.K671N ATRIQIALKYDEKNKQFAILIIQLS ATRIQIALKYDENNKQFAILIIQLS 8.0 8.0 - - 4095_5:167857154-167857154 G>T_ATRIQIALKYDENNKQFAILIIQLS 0.0 5:140774045-140774045 G>C 0.0 4240 BREAST - - - - PCDHGA8 NM_014004,p.Q555H|NM_032088,p.Q555H|uc003lkb.4,p.Q555H|ENST00000398604,p.Q555H|uc003lkd.2,p.Q555H protein_coding uc003lkd.2 nonsynonymous SNV exon1 c.G1665C p.Q555H SSNMSLSLFVLDQNDNAPEILYPAL SSNMSLSLFVLDHNDNAPEILYPAL 4.0 2.0 - - 4240_5:140774045-140774045 G>C_SSNMSLSLFVLDHNDNAPEILYPAL 0.0 16:68042-68042 C>T 1.0 4326 BREAST - rs76638931 - - MIR6859-1,MIR6859-2 ENST00000326592,p.R72Q|uc002cfg.1,p.R72Q retained_intron, protein_coding, nonsense_mediated_decay uc002cfg.1 nonsynonymous SNV exon2 c.G215A p.R72Q DGSRISQQVEQSRSQVQAIGEKVSL DGSRISQQVEQSQSQVQAIGEKVSL 10.0 2.0 - - 4326_16:68042-68042 C>T_DGSRISQQVEQSQSQVQAIGEKVSL 0.0 14:94776154-94776154 G>A 0.0 4235 COLORECTAL - - - - SERPINA6 uc001ycv.3,p.P268L|ENST00000341584,p.P268L|NM_001756,p.P268L protein_coding, nonsense_mediated_decay uc001ycv.3 nonsynonymous SNV exon3 c.C803T p.P268L NYVGNGTVFFILPDKGKMNTVIAAL NYVGNGTVFFILLDKGKMNTVIAAL 4.0 9.0 - - 4235_14:94776154-94776154 G>A_NYVGNGTVFFILLDKGKMNTVIAAL 0.0 6:121625511-121625511 T>G 0.0 4345 COLORECTAL - - - - TBC1D32 ENST00000275159,p.K312T|uc003pyo.1,p.K312T|ENST00000398212,p.K312T|NM_152730,p.K312T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003pyo.1 nonsynonymous SNV exon8 c.A935C p.K312T KEAPSFWIRHPEKYMEEIVESTLSL KEAPSFWIRHPETYMEEIVESTLSL 6.0 6.0 - - 4345_6:121625511-121625511 T>G_KEAPSFWIRHPETYMEEIVESTLSL 0.0 9:118997664-118997664 C>T 1.0 3713 MELANOMA - - - - PAPPA ENST00000328252,p.S827F|NM_002581,p.S827F|uc011lxp.1,p.S522F|uc004bjn.3,p.S827F protein_coding, processed_transcript uc011lxp.1 nonsynonymous SNV exon5 c.C1565T p.S522F DIKLLAVSGKNISLGPQNVFCDVPL DIKLLAVSGKNIFLGPQNVFCDVPL 1.0 3.0 - - 3713_9:118997664-118997664 C>T_DIKLLAVSGKNIFLGPQNVFCDVPL 0.0 4:2515425-2515425 C>T 1.0 3713 MELANOMA - - - - RNF4 ENST00000541204,p.S151F|ENST00000314289,p.S151F|uc003gfb.3,p.S151F|NM_002938,p.S151F|ENST00000502316,p.S151F|NM_001185009,p.S151F|ENST00000511600,p.S151F|ENST00000506706,p.S151F|uc003gfc.3,p.S151F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003gfc.3 nonsynonymous SNV exon9 c.C452T p.S151F YSEIVQNGRLIVSTECGHVFCSQCL YSEIVQNGRLIVFTECGHVFCSQCL 8.0 5.0 - - 3713_4:2515425-2515425 C>T_YSEIVQNGRLIVFTECGHVFCSQCL 0.0 19:40541834-40541834 T>G 1.0 4320 COLORECTAL - - - - ZNF780B uc002omu.3,p.E311A|ENST00000221355,p.E163A|uc002omv.3,p.E163A|ENST00000434248,p.E311A|NM_001005851,p.E311A retained_intron, protein_coding, non_stop_decay uc002omv.3 nonsynonymous SNV exon6 c.A488C p.E163A HSNEKPFVCRECEMAFRYHYQLIEH HSNEKPFVCRECAMAFRYHYQLIEH 9.0 5.0 - - 4320_19:40541834-40541834 T>G_HSNEKPFVCRECAMAFRYHYQLIEH 0.0 4:88903647-88903647 C>T 1.0 3879 MELANOMA - - - - SPP1 ENST00000395080,p.P182S|NM_001251830,p.P195S|ENST00000237623,p.P168S|uc003hrc.3,p.P168S|NM_001040060,p.P155S|NM_001251829,p.P141S|uc003hrd.3,p.P141S|uc011cde.2,p.P195S|NM_001040058,p.P182S|uc003hrb.3,p.P155S|NM_000582,p.P168S|ENST00000508233,p.P141S|ENST00000360804,p.P155S|uc003hra.3,p.P182S retained_intron, protein_coding, processed_transcript uc011cde.2 nonsynonymous SNV exon8 c.C583T p.P195S KSKKFRRPDIQYPDATDEDITSHME KSKKFRRPDIQYSDATDEDITSHME 10.0 3.0 - - 3879_4:88903647-88903647 C>T_KSKKFRRPDIQYSDATDEDITSHME 0.0 21:46888426-46888426 C>T 1.0 3466 MELANOMA - - - - COL18A1 uc002zhi.3,p.S306F|uc002zhg.3,p.S126F|ENST00000355480,p.S306F|ENST00000359759,p.S541F|NM_130445,p.S126F|NM_030582,p.S306F|ENST00000400337,p.S126F retained_intron, protein_coding, processed_transcript uc002zhi.3 nonsynonymous SNV exon2 c.C917T p.S306F SAQAMVLLGVKLSGVQDGHQDISLL SAQAMVLLGVKLFGVQDGHQDISLL 9.0 1.0 CD8 - 3466_21:46888426-46888426 C>T_SAQAMVLLGVKLFGVQDGHQDISLL 1.0 1:200586800-200586800 G>A 1.0 3919 MELANOMA - - - - KIF14 ENST00000367350,p.P351L|uc010ppk.1,p.P351L|NM_014875,p.P351L protein_coding uc010ppk.1 nonsynonymous SNV exon2 c.C1052T p.P351L ETVVQNTSAGKDPLKVENSQVTVAV ETVVQNTSAGKDLLKVENSQVTVAV 5.0 6.0 - - 3919_1:200586800-200586800 G>A_ETVVQNTSAGKDLLKVENSQVTVAV 0.0 9:97912215-97912215 C>T 1.0 3903 MELANOMA - - - 1 FANCC NM_000136,p.A226T|uc022bkl.1,p.A226T|ENST00000375305,p.A226T|NM_001243744,p.A226T|uc004avh.3,p.A226T|NM_001243743,p.A226T|uc004avi.4,p.A226T|ENST00000289081,p.A226T protein_coding, processed_transcript uc022bkl.1 nonsynonymous SNV exon7 c.G676A p.A226T ILQPEFFEAVNEAILLKKISLPMSA ILQPEFFEAVNETILLKKISLPMSA 6.0 10.0 - - 3903_9:97912215-97912215 C>T_ILQPEFFEAVNETILLKKISLPMSA 0.0 19:45532197-45532197 G>A 1.0 3713 MELANOMA - - - - RELB ENST00000505236,p.G310E|ENST00000221452,p.G313E|ENST00000540120,p.G313E|uc021uvq.1,p.G313E retained_intron, protein_coding, nonsense_mediated_decay uc021uvq.1 nonsynonymous SNV exon8 c.G938A p.G313E SELRICRINKESGPCTGGEELYLLC SELRICRINKESEPCTGGEELYLLC 3.0 10.0 - - 3713_19:45532197-45532197 G>A_SELRICRINKESEPCTGGEELYLLC 0.0 14:72190414-72190414 G>A 1.0 4180 BREAST - - - - SIPA1L1 uc001xms.3,p.R1441Q|uc001xmv.3,p.R1441Q|ENST00000555818,p.R1441Q|uc001xmt.3,p.R1420Q|uc001xmu.3,p.R1420Q|NM_015556,p.R1441Q|NM_001284245,p.R1420Q|ENST00000381232,p.R1420Q|uc010ttm.2,p.R895Q|NM_001284246,p.R1420Q|ENST00000358550,p.R1420Q|NM_001284247,p.R1441Q|ENST00000537413,p.R895Q retained_intron, protein_coding, processed_transcript uc010ttm.2 nonsynonymous SNV exon14 c.G2684A p.R895Q RHSASPVVFTSARSSPKEELHPAAP RHSASPVVFTSAQSSPKEELHPAAP 8.0 10.0 - - 4180_14:72190414-72190414 G>A_RHSASPVVFTSAQSSPKEELHPAAP 0.0 7:123593799-123593799 T>- 0.0 4246 COLORECTAL - - - - SPAM1 uc003vle.3,p.F59fs|NM_001174044,p.F59fs|ENST00000340011,p.F59fs|NM_001174045,p.F59fs|uc022aks.1,p.F59fs|uc010lku.3,p.F59fs|NM_003117,p.F59fs|NM_001174046,p.F59fs|ENST00000402183,p.F59fs|ENST00000439500,p.F59fs|uc003vld.3,p.F59fs|ENST00000413927,p.F59fs|ENST00000460182,p.F59fs|uc003vlf.4,p.F59fs|ENST00000223028,p.F59fs|NM_153189,p.F59fs protein_coding uc022aks.1 frameshift deletion exon3 c.175delT p.F59fs VPFLWAWNAPSEFCLGKFDEPLDMS VPFLWAWNAPSEFVLENLMSH 1.0 5.0 - - 4246_7:123593799-123593799 T>-_VPFLWAWNAPSEFVLENLMSH 0.0 17:7578526-7578526 C>T 1.0 4316 COLORECTAL - - ID=COSM99600,COSM2744946,COSM99599,COSM3691869,COSM10801,COSM99601,COSM99598;OCCURENCE=2(haematopoietic_and_lymphoid_tissue),1(thyroid),4(lung),3(upper_aerodigestive_tract),5(oesophagus),2(central_nervous_system),1(stomach),4(urinary_tract),2(liver),1(pancreas),1(prostate),10(large_intestine),1(skin),9(breast),1(autonomic_ganglia),8(ovary) 1 TP53 ENST00000514944,p.C42Y|uc002gin.3,p.C42Y retained_intron, protein_coding, processed_transcript uc002gin.3 nonsynonymous SNV exon4 c.G125A p.C42Y NVLYSPALNKMFCQLAKTCPVQLWV NVLYSPALNKMFYQLAKTCPVQLWV 9.0 10.0 - - 4316_17:7578526-7578526 C>T_NVLYSPALNKMFYQLAKTCPVQLWV 0.0 17:26961102-26961102 G>A 1.0 2369 MELANOMA - - - - KIAA0100 ENST00000389003,p.R882W|NM_014680,p.R1025W|ENST00000544884,p.R882W|uc002hbu.3,p.R1025W|ENST00000528896,p.R1025W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002hbu.3 nonsynonymous SNV exon17 c.C3073T p.R1025W RMLKCNVKSFLVRIRDYPRYLFEIR RMLKCNVKSFLVWIRDYPRYLFEIR 10.0 7.0 - - 2369_17:26961102-26961102 G>A_RMLKCNVKSFLVWIRDYPRYLFEIR 0.0 19:51021213-51021213 G>C 0.0 4326 BREAST - - - - LRRC4B uc002pss.3,p.T586R|ENST00000599957,p.T586R|NM_001080457,p.T586R|ENST00000389201,p.T586R protein_coding uc002pss.3 nonsynonymous SNV exon3 c.C1757G p.T586R TTKIIIGCFVAITFMAAVMLVAFYK TTKIIIGCFVAIRFMAAVMLVAFYK 4.0 1.0 - - 4326_19:51021213-51021213 G>C_TTKIIIGCFVAIRFMAAVMLVAFYK 0.0 17:74307645-74307645 C>T 1.0 4252 COLORECTAL - - - - PRPSAP1 ENST00000324684,p.R276Q|uc010wta.1,p.R379Q|uc010wtb.1,p.R276Q|ENST00000446526,p.R379Q|NM_002766,p.R379Q retained_intron, protein_coding, processed_transcript uc010wtb.1 nonsynonymous SNV exon10 c.G827A p.R276Q RIHNGESMAYLFRNITVDD RIHNGESMAYLFQNITVDD 9.0 10.0 - - 4252_17:74307645-74307645 C>T_RIHNGESMAYLFQNITVDD 0.0 1:157497542-157497542 T>C 0.0 4287 COLORECTAL - - - - FCRL5 uc010phw.1,p.S524G|ENST00000356953,p.S609G|NM_001195388,p.S609G|uc010phv.1,p.S609G|NM_031281,p.S609G|uc009wsm.3,p.S609G|ENST00000368191,p.S524G|uc001fqu.3,p.S609G|ENST00000361835,p.S609G|ENST00000368190,p.S609G protein_coding, processed_transcript uc010phw.1 nonsynonymous SNV exon8 c.A1570G p.S524G LYWFYHEDVTLGSSSAPSGGEASFN LYWFYHEDVTLGGSSAPSGGEASFN 5.0 9.0 - - 4287_1:157497542-157497542 T>C_LYWFYHEDVTLGGSSAPSGGEASFN 0.0 16:24573203-24573203 C>G 1.0 4186 BREAST - - - - RBBP6 uc002dmi.3,p.P337R|NM_006910,p.P337R|ENST00000564314,p.P204R|uc010vcb.1,p.P204R|ENST00000381039,p.P337R|uc002dmk.3,p.P204R|uc002dmh.3,p.P337R|ENST00000319715,p.P337R|ENST00000348022,p.P337R|uc010bxr.3,p.P337R|NM_018703,p.P337R retained_intron, protein_coding uc010vcb.1 nonsynonymous SNV exon8 c.C611G p.P204R ETGYTKRLRKQLPPPPPPIPPPRPL ETGYTKRLRKQLRPPPPPIPPPRPL 9.0 1.0 - - 4186_16:24573203-24573203 C>G_ETGYTKRLRKQLRPPPPPIPPPRPL 0.0 2:60773289-60773289 G>A 0.0 4258 ENDOMETRIAL - - - 1 BCL11A ENST00000358510,p.R68W|uc010ypj.2,p.R68W|uc002sae.1,p.R68W|ENST00000335712,p.R68W|uc010fcg.3,p.R68W|uc002saf.1,p.R68W|NM_138559,p.R68W|ENST00000359629,p.R68W|uc002sab.3,p.R68W|NM_018014,p.R68W|ENST00000538214,p.R68W|uc002sac.3,p.R68W|ENST00000356842,p.R68W|NM_022893,p.R68W protein_coding, processed_transcript uc010ypj.2 nonsynonymous SNV exon2 c.C202T p.R68W PLGDILIFIEHKRKQCNGSLCLEKA PLGDILIFIEHKWKQCNGSLCLEKA 5.0 10.0 - - 4258_2:60773289-60773289 G>A_PLGDILIFIEHKWKQCNGSLCLEKA 0.0 10:55663094-55663094 T>C 0.0 4160 COLORECTAL - - - - PCDH15 uc021pqw.1,p.E1149G|uc010qhw.1,p.E1100G|uc021pqv.1,p.E1137G|uc021pqz.1,p.E1115G|ENST00000395432,p.E1100G|NM_001142768,p.E1115G|NM_001142764,p.E1137G|uc010qib.1,p.E1115G|ENST00000373965,p.E1144G|uc021pqy.1,p.E1137G|ENST00000395438,p.E1137G|ENST00000395445,p.E1144G|ENST00000395430,p.E1137G|ENST00000409834,p.E748G|uc010qht.2,p.E1144G|uc010qhq.2,p.E1142G|NM_033056,p.E1137G|uc010qhr.2,p.E1137G|NM_001142763,p.E1142G|uc021pqx.1,p.E1137G|NM_001142765,p.E1066G|NM_001142773,p.E1115G|uc010qhx.1,p.E1066G|uc010qhy.1,p.E1142G|ENST00000437009,p.E1066G|uc010qhv.1,p.E1137G|ENST00000361849,p.E1137G|NM_001142767,p.E1100G|uc010qhz.1,p.E1137G|ENST00000395433,p.E1115G|ENST00000320301,p.E1137G|uc010qia.1,p.E1115G|NM_001142766,p.E1137G|uc001jju.1,p.E1137G|ENST00000414778,p.E1142G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021pqz.1 nonsynonymous SNV exon24 c.A3344G p.E1115G SNTAKVYIEIQDENNHPPVFQKKFY SNTAKVYIEIQDGNNHPPVFQKKFY 1.0 4.0 - - 4160_10:55663094-55663094 T>C_SNTAKVYIEIQDGNNHPPVFQKKFY 0.0 X:70609435-70609435 G>A 0.0 4301 MELANOMA - - - - TAF1 uc004dzv.4,p.D74N|NM_001286074,p.D921N|uc004dzt.4,p.D921N|uc004dzu.4,p.D900N|ENST00000373790,p.D900N|ENST00000276072,p.D921N|NM_004606,p.D921N|ENST00000449580,p.D900N|ENST00000423759,p.D921N|NM_138923,p.D900N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004dzv.4 nonsynonymous SNV exon3 c.G220A p.D74N YYSMIAAEQRLKDAGYGEKSFFAPE YYSMIAAEQRLKNAGYGEKSFFAPE 8.0 1.0 - - 4301_X:70609435-70609435 G>A_YYSMIAAEQRLKNAGYGEKSFFAPE 0.0 15:56388408-56388408 C>A 1.0 4316 COLORECTAL - - - - RFX7 uc002adn.1,p.R320S|NM_022841,p.R506S|uc010bfn.3,p.R506S|ENST00000317318,p.R506S|ENST00000559447,p.R409S|ENST00000422057,p.R409S|ENST00000423270,p.R506S|ENST00000559847,p.R409S protein_coding, nonsense_mediated_decay uc010bfn.3 nonsynonymous SNV exon9 c.G1518T p.R506S SVSSATGTTEESRSVPQIKNGSVVS SVSSATGTTEESSSVPQIKNGSVVS 5.0 1.0 - - 4316_15:56388408-56388408 C>A_SVSSATGTTEESSSVPQIKNGSVVS 0.0 17:65907511-65907511 T>A 1.0 4189 MELANOMA - - - - BPTF uc002jge.3,p.S1297T|ENST00000544778,p.S1234T|ENST00000424123,p.S1158T|uc002jgf.3,p.S1171T|NM_004459,p.S1297T|ENST00000335221,p.S1297T|ENST00000321892,p.S1297T|ENST00000306378,p.S1171T|NM_182641,p.S1171T retained_intron, protein_coding, processed_transcript uc002jgf.3 nonsynonymous SNV exon11 c.T3511A p.S1171T KLYPKDRVLDDVSIRSPETKCPKQN KLYPKDRVLDDVTIRSPETKCPKQN 10.0 1.0 - - 4189_17:65907511-65907511 T>A_KLYPKDRVLDDVTIRSPETKCPKQN 0.0 2:141356285-141356285 A>C 0.0 4160 COLORECTAL - - - 1 LRP1B NM_018557,p.I2370S|uc002tvj.1,p.I2370S|ENST00000389484,p.I2370S protein_coding, processed_transcript uc002tvj.1 nonsynonymous SNV exon43 c.T7109G p.I2370S VSTDILTPNGLTIDYRAEKLYFSDG VSTDILTPNGLTSDYRAEKLYFSDG 2.0 5.0 - - 4160_2:141356285-141356285 A>C_VSTDILTPNGLTSDYRAEKLYFSDG 0.0 22:22869267-22869267 C>T 1.0 2369 MELANOMA - - - - ZNF280A uc002zwe.3,p.D230N|ENST00000302097,p.D230N|NM_080740,p.D230N|uc021wmo.1,p.D230N protein_coding uc021wmo.1 nonsynonymous SNV exon1 c.G688A p.D230N NHVQNGVTFPWPDANGKAHFNLTDP NHVQNGVTFPWPNANGKAHFNLTDP 7.0 8.0 - - 2369_22:22869267-22869267 C>T_NHVQNGVTFPWPNANGKAHFNLTDP 0.0 21:37418206-37418206 G>A 1.0 3713 MELANOMA - - - - SETD4 NM_001007261,p.P110S|ENST00000399212,p.P110S|ENST00000399207,p.P134S|uc002yux.2,p.P110S|uc002yuz.3,p.P110S|ENST00000332131,p.P134S|uc021wiy.1,p.P134S|uc002yuy.3,p.P134S|NM_017438,p.P134S|ENST00000399215,p.P134S|ENST00000446166,p.P110S|ENST00000429161,p.P134S|uc002yuw.2,p.P134S|NM_001007259,p.P134S|ENST00000424303,p.P134S|ENST00000399205,p.P110S|uc002yva.3,p.P110S|ENST00000399208,p.P134S|ENST00000399201,p.P110S|NM_001286752,p.P110S retained_intron, protein_coding, processed_transcript uc021wiy.1 nonsynonymous SNV exon6 c.C400T p.P134S HRSLWKPYLEILPKAYTCPVCLEPE HRSLWKPYLEILSKAYTCPVCLEPE 8.0 9.0 - - 3713_21:37418206-37418206 G>A_HRSLWKPYLEILSKAYTCPVCLEPE 0.0 5:140626743-140626743 G>A 0.0 4078 GASTRIC - - - - PCDHB15 NM_018935,p.A533T|ENST00000231173,p.A533T|uc003lje.3,p.A533T protein_coding uc003lje.3 nonsynonymous SNV exon1 c.G1597A p.A533T YEALQAFEFRVGATDRGFPALSSEA YEALQAFEFRVGTTDRGFPALSSEA 3.0 10.0 - - 4078_5:140626743-140626743 G>A_YEALQAFEFRVGTTDRGFPALSSEA 0.0 9:420960-420960 T>G 0.0 4335 COLORECTAL - - - - DOCK8 ENST00000382329,p.S812R|NM_001193536,p.S1277R|ENST00000432829,p.S1277R|ENST00000469391,p.S1245R|uc010mgu.3,p.S647R|uc022bcu.1,p.S1277R|uc003zgf.2,p.S1345R|ENST00000453981,p.S1345R|uc010mgv.3,p.S1245R|uc003zgk.2,p.S803R|NM_203447,p.S1345R|NM_001190458,p.S1245R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc022bcu.1 nonsynonymous SNV exon31 c.T3831G p.S1277R ICVLCFEYKGKQSSDKVSTQVLQKS ICVLCFEYKGKQRSDKVSTQVLQKS 10.0 1.0 - - 4335_9:420960-420960 T>G_ICVLCFEYKGKQRSDKVSTQVLQKS 0.0 6:41655673-41655673 C>T 1.0 2556 MELANOMA - - - 1 TFEB NM_001271945,p.D215N|ENST00000419396,p.D215N|ENST00000394283,p.D215N|ENST00000420312,p.D130N|uc010jxo.1,p.D215N|NM_007162,p.D215N|uc003oqs.1,p.D215N|ENST00000230323,p.D215N|uc003oqt.2,p.D215N|uc003oqu.2,p.D229N|NM_001271944,p.D215N|NM_001167827,p.D229N|uc021yzl.1,p.D282N|ENST00000358871,p.D229N|uc031sop.1,p.D215N|ENST00000416140,p.D215N|ENST00000343317,p.D301N|ENST00000403298,p.D215N|uc003oqr.2,p.D130N|ENST00000406563,p.D73N|uc003oqv.1,p.D215N|ENST00000373033,p.D215N|NM_001271943,p.D130N retained_intron, protein_coding uc031sop.1 nonsynonymous SNV exon5 c.G643A p.D215N SLVGVTSSSCPADLTQKRELTDAES SLVGVTSSSCPANLTQKRELTDAES 5.0 5.0 - - 2556_6:41655673-41655673 C>T_SLVGVTSSSCPANLTQKRELTDAES 0.0 12:81239651-81239651 G>A 0.0 4196 COLORECTAL - - - - LIN7A NM_004664,p.T114I|ENST00000549417,p.T108I|uc001szj.1,p.T114I|ENST00000552864,p.T114I protein_coding, nonsense_mediated_decay uc001szj.1 nonsynonymous SNV exon4 c.C341T p.T114I GHSHPRVVELPKTDEGLGFNVMGGK GHSHPRVVELPKIDEGLGFNVMGGK 6.0 5.0 - - 4196_12:81239651-81239651 G>A_GHSHPRVVELPKIDEGLGFNVMGGK 0.0 14:61446227-61446227 G>A 1.0 4298 COLORECTAL - - - - TRMT5 uc001xff.4,p.P130L|ENST00000261249,p.P130L|NM_020810,p.P130L protein_coding uc001xff.4 nonsynonymous SNV exon2 c.C389T p.P130L LQRPGIRRVIEDPEDKESRLIMLDP LQRPGIRRVIEDLEDKESRLIMLDP 6.0 10.0 - - 4298_14:61446227-61446227 G>A_LQRPGIRRVIEDLEDKESRLIMLDP 0.0 20:61341109-61341109 C>T 0.0 4298 COLORECTAL - - - - NTSR1 uc002ydf.3,p.R184C|ENST00000370501,p.R184C|NM_002531,p.R184C protein_coding, processed_transcript uc002ydf.3 nonsynonymous SNV exon1 c.C550T p.R184C HPFKAKTLMSRSRTKKFISAIWLAS HPFKAKTLMSRSCTKKFISAIWLAS 2.0 4.0 - - 4298_20:61341109-61341109 C>T_HPFKAKTLMSRSCTKKFISAIWLAS 0.0 1:244218580-244218580 G>T 1.0 4213 COLORECTAL - - - - ZBTB18 NM_001278196,p.V493L|uc001iae.4,p.V493L|NM_205768,p.V502L|uc001iad.5,p.V502L|NM_006352,p.V493L|uc031psv.1,p.V493L|ENST00000358704,p.V502L protein_coding uc031psv.1 nonsynonymous SNV exon2 c.G1477T p.V493L LYRHIRKFHCELVNSLSVKSEALSL LYRHIRKFHCELLNSLSVKSEALSL 8.0 10.0 - - 4213_1:244218580-244218580 G>T_LYRHIRKFHCELLNSLSVKSEALSL 0.0 1:148346658-148346658 C>A 1.0 4326 BREAST - - - - NBPF14,NBPF8,NBPF9 uc021owp.2,p.Q33H|NM_015383,p.Q33H protein_coding uc021owp.2 nonsynonymous SNV exon1 c.G99T p.Q33H NETLRPQLAEKKQQFRNLKEKCFLT NETLRPQLAEKKHQFRNLKEKCFLT 10.0 7.0 - - 4326_1:148346658-148346658 C>A_NETLRPQLAEKKHQFRNLKEKCFLT 0.0 22:19349257-19349257 G>A 1.0 4189 MELANOMA - - - - HIRA ENST00000546308,p.S614F|uc010gro.2,p.S614F|uc011agx.1,p.S524F|uc002zpf.1,p.S658F|NM_003325,p.S658F|ENST00000541063,p.S614F|ENST00000263208,p.S658F protein_coding, processed_transcript, nonsense_mediated_decay uc011agx.1 nonsynonymous SNV exon18 c.C1571T p.S524F PRKDSRLMPVSLSVQSPAALTAEKE PRKDSRLMPVSLFVQSPAALTAEKE 8.0 1.0 - - 4189_22:19349257-19349257 G>A_PRKDSRLMPVSLFVQSPAALTAEKE 0.0 6:56337020-56337020 C>T 1.0 4326 BREAST - - - - DST NM_001144770,p.R5075K|ENST00000244364,p.R4709K|ENST00000361203,p.R7012K|NM_015548,p.R4709K|uc021zaz.2,p.R5035K|ENST00000523943,p.R40K|uc003pcy.4,p.R4709K|ENST00000446842,p.R6797K|ENST00000421834,p.R5035K|NM_183380,p.R5035K|uc021zay.2,p.R5075K|ENST00000370788,p.R4926K|uc021zba.2,p.R5213K|ENST00000370769,p.R7123K|NM_001144769,p.R5213K|ENST00000370754,p.R7301K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021zba.2 nonsynonymous SNV exon88 c.G15638A p.R5213K SHIPVLDKGRAGRKRFPASSLYPSG SHIPVLDKGRAGKKRFPASSLYPSG 8.0 1.0 - - 4326_6:56337020-56337020 C>T_SHIPVLDKGRAGKKRFPASSLYPSG 0.0 6:159646683-159646683 C>A 0.0 4346 COLORECTAL - - - - FNDC1 ENST00000297267,p.A334E|ENST00000340366,p.A334E|uc010kjw.1,p.A282E|uc010kjv.3,p.A334E|NM_032532,p.A334E protein_coding, processed_transcript uc010kjw.1 nonsynonymous SNV exon7 c.C845A p.A282E IENLIPDTVYEFAVRISQGERDGKW IENLIPDTVYEFEVRISQGERDGKW 4.0 4.0 - - 4346_6:159646683-159646683 C>A_IENLIPDTVYEFEVRISQGERDGKW 0.0 8:21957390-21957390 C>T 1.0 3879 MELANOMA - - - - FAM160B2 uc011kyx.2,p.H443Y|ENST00000450006,p.H443Y|ENST00000289921,p.H443Y|NM_022749,p.H443Y retained_intron, protein_coding, nonsense_mediated_decay uc011kyx.2 nonsynonymous SNV exon10 c.C1327T p.H443Y HTLYAHLIGHCDHLSDEISITTLRL HTLYAHLIGHCDYLSDEISITTLRL 9.0 9.0 - - 3879_8:21957390-21957390 C>T_HTLYAHLIGHCDYLSDEISITTLRL 0.0 11:67203389-67203389 G>A 1.0 4245 COLORECTAL - - - - PTPRCAP uc001oli.1,p.R146W|NM_005608,p.R146W|ENST00000326294,p.R146W protein_coding uc001oli.1 nonsynonymous SNV exon2 c.C436T p.R146W CGEASSPEQVPVRAEEARDSDTEGD CGEASSPEQVPVWAEEARDSDTEGD 9.0 9.0 - - 4245_11:67203389-67203389 G>A_CGEASSPEQVPVWAEEARDSDTEGD 0.0 2:120831700-120831700 T>C 1.0 4037 NSCLC - - - - EPB41L5 NM_020909,p.L118P|uc002tmg.3,p.L118P|ENST00000443902,p.L118P|NM_001184939,p.L118P|NM_001184938,p.L118P|NM_001184937,p.L118P|ENST00000443124,p.L118P|ENST00000452780,p.L118P|ENST00000263713,p.L118P|uc010flk.3,p.L118P|ENST00000331393,p.L118P|uc010fll.3,p.L118P|uc002tmh.4,p.L118P retained_intron, protein_coding, processed_transcript uc010fll.3 nonsynonymous SNV exon5 c.T353C p.L118P KQVKIGSPYCLHLRVKFYSSEPNNL KQVKIGSPYCLHPRVKFYSSEPNNL 8.0 7.0 - - 4037_2:120831700-120831700 T>C_KQVKIGSPYCLHPRVKFYSSEPNNL 0.0 20:47607733-47607733 G>A 1.0 3713 MELANOMA - - - - ARFGEF2 uc010zyf.2,p.E284K|ENST00000371917,p.E991K|uc002xtx.4,p.E991K|NM_006420,p.E991K protein_coding, processed_transcript uc010zyf.2 nonsynonymous SNV exon7 c.G850A p.E284K HTDGNYLGNSWHEILKCISQLELAQ HTDGNYLGNSWHKILKCISQLELAQ 7.0 9.0 - - 3713_20:47607733-47607733 G>A_HTDGNYLGNSWHKILKCISQLELAQ 0.0 10:120933972-120933972 G>A 1.0 3713 MELANOMA - - - - PRDX3 uc021pzp.1,p.P83L|NM_014098,p.P83L|uc001lec.3,p.P101L|ENST00000356951,p.P83L|NM_006793,p.P101L|ENST00000298510,p.P101L protein_coding, processed_transcript uc021pzp.1 nonsynonymous SNV exon3 c.C248T p.P83L DFKGKYLVLFFYPLDFTFVCPTEIV DFKGKYLVLFFYLLDFTFVCPTEIV 8.0 9.0 CD8 - 3713_10:120933972-120933972 G>A_DFKGKYLVLFFYLLDFTFVCPTEIV 1.0 3:178936091-178936091 G>A 1.0 4240 BREAST - - ID=COSM763,COSM125370;OCCURENCE=4(salivary_gland),38(endometrium),4(soft_tissue),28(ovary),1(pituitary),4(kidney),3(pancreas),3(liver),126(urinary_tract),1(biliary_tract),373(large_intestine),1(prostate),365(breast),16(skin),1(small_intestine),41(upper_aerodigestive_tract),8(oesophagus),18(stomach),17(central_nervous_system),21(cervix),7(gastrointestinal_tract_(site_indeterminate)),4(penis),44(lung),7(thyroid) 1 PIK3CA NM_006218,p.E545K|uc003fjk.3,p.E545K|ENST00000263967,p.E545K retained_intron, protein_coding uc003fjk.3 nonsynonymous SNV exon10 c.G1633A p.E545K AISTRDPLSEITEQEKDFLWSHRHY AISTRDPLSEITKQEKDFLWSHRHY 6.0 10.0 - - 4240_3:178936091-178936091 G>A_AISTRDPLSEITKQEKDFLWSHRHY 0.0 2:152502698-152502698 C>G 0.0 4258 ENDOMETRIAL - - - - NEB ENST00000603639,p.M2494I|uc002txu.3,p.M2494I|ENST00000427231,p.M2494I|uc021vrc.1,p.M2494I|uc031rpp.1,p.M2494I|ENST00000409198,p.M2494I|NM_001164508,p.M2494I|uc010fnx.3,p.M2494I|uc021vrd.1,p.M2494I|uc021vrb.1,p.M2494I|NM_004543,p.M2494I|ENST00000604864,p.M2494I|NM_001271208,p.M2494I|ENST00000172853,p.M2494I|ENST00000397345,p.M2494I|NM_001164507,p.M2494I retained_intron, protein_coding, processed_transcript uc031rpp.1 nonsynonymous SNV exon55 c.G7482C p.M2494I EAWDKDKTQIHIMPDTPDIVLAKAN EAWDKDKTQIHIIPDTPDIVLAKAN 9.0 10.0 - - 4258_2:152502698-152502698 C>G_EAWDKDKTQIHIIPDTPDIVLAKAN 0.0 5:112177722-112177722 T>A 1.0 3775 CERVICAL - - - 1 APC ENST00000257430,p.L2144Q|ENST00000508376,p.L2144Q|uc003kpz.4,p.L2144Q|NM_001127510,p.L2144Q|NM_000038,p.L2144Q|ENST00000457016,p.L2144Q|uc011cvt.2,p.L2126Q|NM_001127511,p.L2126Q|uc003kpy.4,p.L2144Q|uc010jbz.3,p.L1861Q|uc010jca.3,p.L1444Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cvt.2 nonsynonymous SNV exon14 c.T6377A p.L2126Q SDSILSLKSGISLGSPFHLTPDQEE SDSILSLKSGISQGSPFHLTPDQEE 6.0 8.0 - - 3775_5:112177722-112177722 T>A_SDSILSLKSGISQGSPFHLTPDQEE 0.0 14:75245382-75245382 C>T 1.0 3466 MELANOMA - - - - YLPM1 ENST00000238571,p.P369L|ENST00000325680,p.P369L|NM_019589,p.P369L|uc001xqj.4,p.P369L|ENST00000552421,p.P369L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001xqj.4 nonsynonymous SNV exon2 c.C1106T p.P369L NEEVPPPLPPEEPQSEDPEEDARLK NEEVPPPLPPEELQSEDPEEDARLK 9.0 4.0 - - 3466_14:75245382-75245382 C>T_NEEVPPPLPPEELQSEDPEEDARLK 0.0 14:75266025-75266025 C>T 1.0 2591 MELANOMA - - - - YLPM1 ENST00000238571,p.P1147L|NM_019589,p.P1342L|ENST00000549293,p.P895L|ENST00000325680,p.P1342L|uc001xqj.4,p.P1342L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001xqj.4 nonsynonymous SNV exon5 c.C4025T p.P1342L SLPPLPPLPPLPPLDRYRDDRWREE SLPPLPPLPPLPLLDRYRDDRWREE 7.0 4.0 - - 2591_14:75266025-75266025 C>T_SLPPLPPLPPLPLLDRYRDDRWREE 0.0 4:121774625-121774625 C>G 0.0 4238 COLORECTAL - - - - PRDM5 NM_001300823,p.R83P|ENST00000264808,p.R83P|ENST00000515109,p.R83P|uc003ido.3,p.R83P|NM_018699,p.R83P|uc010inf.3,p.R83P|NM_001300824,p.R83P|ENST00000394435,p.R83P|uc003idp.1,p.R83P|uc010ine.3,p.R83P|uc003idn.3,p.R83P|ENST00000428209,p.R83P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010inf.3 nonsynonymous SNV exon3 c.G248C p.R83P LDATNPRHSNWLRFVHEAPSQEQKN LDATNPRHSNWLPFVHEAPSQEQKN 5.0 10.0 - - 4238_4:121774625-121774625 C>G_LDATNPRHSNWLPFVHEAPSQEQKN 0.0 X:85211198-85211198 G>A 1.0 3919 MELANOMA - - - - CHM NM_000390,p.P376S|uc004eet.3,p.P376S|ENST00000357749,p.P376S|ENST00000537751,p.P228S|uc011mqz.2,p.P228S protein_coding, processed_transcript uc011mqz.2 nonsynonymous SNV exon5 c.C682T p.P228S CLGRYGNTPFLFPLYGQGELPQCFC CLGRYGNTPFLFSLYGQGELPQCFC 8.0 9.0 - - 3919_X:85211198-85211198 G>A_CLGRYGNTPFLFSLYGQGELPQCFC 0.0 7:133861794-133861794 G>T 0.0 4237 NSCLC - - - - LRGUK uc003vrm.1,p.K362N|NM_144648,p.K362N|ENST00000285928,p.K362N protein_coding, processed_transcript uc003vrm.1 nonsynonymous SNV exon9 c.G1086T p.K362N IFMLLRLTELDQKKIKVEEKVSAVN IFMLLRLTELDQNKIKVEEKVSAVN 3.0 7.0 - - 4237_7:133861794-133861794 G>T_IFMLLRLTELDQNKIKVEEKVSAVN 0.0 2:186656841-186656841 G>A 0.0 4129 NSCLC - - - - FSIP2 ENST00000424728,p.V1660M|ENST00000343098,p.V1749M|uc002upl.3,p.V1749M|NM_173651,p.V1749M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002upl.3 nonsynonymous SNV exon16 c.G5245A p.V1749M SAILKVIQTELNVTSSDLKTSVENP SAILKVIQTELNMTSSDLKTSVENP 3.0 7.0 - - 4129_2:186656841-186656841 G>A_SAILKVIQTELNMTSSDLKTSVENP 0.0 19:57175423-57175423 G>A 0.0 3903 MELANOMA - - - - ZNF835 NM_001005850,p.L382F|uc031rne.1,p.L382F|uc010ygn.2,p.L382F|ENST00000537055,p.L382F protein_coding uc031rne.1 nonsynonymous SNV exon1 c.C1144T p.L382F RFSNRSHLLQHRLVHTGERPYRCLQ RFSNRSHLLQHRFVHTGERPYRCLQ 2.0 9.0 - - 3903_19:57175423-57175423 G>A_RFSNRSHLLQHRFVHTGERPYRCLQ 0.0 8:124824829-124824829 C>T 1.0 4244 COLORECTAL - - - - FAM91A1 NM_144963,p.A801V|uc003yqv.3,p.A801V retained_intron, protein_coding, nonsense_mediated_decay uc003yqv.3 nonsynonymous SNV exon24 c.C2402T p.A801V PSFSSLLSQSSYADMGVPLPAKNLI PSFSSLLSQSSYVDMGVPLPAKNLI 8.0 7.0 - - 4244_8:124824829-124824829 C>T_PSFSSLLSQSSYVDMGVPLPAKNLI 0.0 19:58718141-58718141 C>T 1.0 3879 MELANOMA - - - - ZNF274 ENST00000345813,p.P72L|ENST00000326804,p.P104L|uc002qrq.1,p.P104L|uc002qrr.1,p.P72L|ENST00000594839,p.P104L retained_intron, protein_coding, processed_transcript uc002qrr.1 nonsynonymous SNV exon4 c.C215T p.P72L LDPKLDPLPAESPLMNIEVVEVLTL LDPKLDPLPAESLLMNIEVVEVLTL 6.0 5.0 - - 3879_19:58718141-58718141 C>T_LDPKLDPLPAESLLMNIEVVEVLTL 0.0 15:99768907-99768907 G>A 1.0 3466 MELANOMA - - - - TTC23 ENST00000394135,p.S4L|ENST00000459771,p.S4L|uc002buw.3,p.S4L|ENST00000394136,p.S4L|ENST00000558613,p.S4L|ENST00000394129,p.S4L|uc002buz.2,p.S4L|ENST00000560772,p.S4L|uc010bor.3,p.S4L|uc002buu.3,p.S4L|uc002but.3,p.S4L|NM_001288616,p.S4L|ENST00000558663,p.S4L|ENST00000394132,p.S4L|uc002bux.3,p.S4L|ENST00000561365,p.S4L|uc002bur.3,p.S4L|NM_001288615,p.S4L|uc002buy.3,p.S4L|ENST00000262074,p.S4L|uc002buv.3,p.S4L|ENST00000558078,p.S4L|ENST00000394130,p.S4L|ENST00000560279,p.S4L|ENST00000560860,p.S4L|uc002bus.3,p.S4L|ENST00000560235,p.S4L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010bor.3 nonsynonymous SNV exon3 c.C11T p.S4L MQESQETHISNHLDEV MQELQETHISNHLDEV 6.0 6.0 - - 3466_15:99768907-99768907 G>A_MQELQETHISNHLDEV 0.0 18:43217116-43217116 A>G 0.0 4160 COLORECTAL - - - - SLC14A2 uc002lbb.3,p.N271S|NM_001242692,p.N271S|NM_007163,p.N271S|uc002lbe.3,p.N271S|ENST00000586448,p.N271S|uc010dnj.3,p.N271S|ENST00000255226,p.N271S protein_coding, nonsense_mediated_decay uc010dnj.3 nonsynonymous SNV exon7 c.A812G p.N271S PTTLVEPVSSVPNITWTEMEMPLLL PTTLVEPVSSVPSITWTEMEMPLLL 1.0 6.0 - - 4160_18:43217116-43217116 A>G_PTTLVEPVSSVPSITWTEMEMPLLL 0.0 4:57215797-57215797 G>C 1.0 4301 MELANOMA - - - - AASDH ENST00000451613,p.P707R|uc010ihb.3,p.P222R|uc011cab.2,p.P222R|NM_181806,p.P707R|ENST00000205214,p.P707R|uc003hbo.3,p.P607R|NM_001286668,p.P607R|NM_001286672,p.P707R|uc010ihc.3,p.P707R|uc003hbp.3,p.P707R|NM_001286671,p.P707R|uc003hbn.3,p.P707R|ENST00000502617,p.P707R|ENST00000434343,p.P222R|ENST00000513376,p.P607R|NM_001286670,p.P222R|NM_001286669,p.P554R|ENST00000602986,p.P554R|uc011caa.2,p.P554R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cab.2 nonsynonymous SNV exon8 c.C665G p.P222R FLTKLGHCSSACPSDSVSQTNIQNL FLTKLGHCSSACRSDSVSQTNIQNL 8.0 1.0 - - 4301_4:57215797-57215797 G>C_FLTKLGHCSSACRSDSVSQTNIQNL 0.0 17:58571953-58571953 C>G 1.0 3879 MELANOMA - - - - APPBP2 uc002iys.1,p.A85P|ENST00000585368,p.A85P|ENST00000083182,p.A85P|NM_006380,p.A85P protein_coding, processed_transcript, nonsense_mediated_decay uc002iys.1 nonsynonymous SNV exon3 c.G253C p.A85P LDKRHLLHHCFQALMDHGVKVASVL LDKRHLLHHCFQPLMDHGVKVASVL 8.0 7.0 - - 3879_17:58571953-58571953 C>G_LDKRHLLHHCFQPLMDHGVKVASVL 0.0 12:124827580-124827580 G>A 1.0 3678 MELANOMA - - - 1 NCOR2 ENST00000397355,p.S1627F|uc021rgc.1,p.S1626F|uc010tbc.2,p.S1626F|NM_001077261,p.S1626F|ENST00000429285,p.S1626F|ENST00000356219,p.S1643F|ENST00000405201,p.S1636F|NM_001206654,p.S1626F|uc010tba.2,p.S1644F|uc010tbb.2,p.S1636F|ENST00000404621,p.S1626F|NM_006312,p.S1636F|ENST00000404121,p.S1197F retained_intron, protein_coding uc021rgc.1 nonsynonymous SNV exon34 c.C4877T p.S1626F YRSHIPLAFDPTSIPRGIPLDAAAA YRSHIPLAFDPTFIPRGIPLDAAAA 10.0 2.0 - - 3678_12:124827580-124827580 G>A_YRSHIPLAFDPTFIPRGIPLDAAAA 0.0 20:16360132-16360132 A>C 1.0 4246 COLORECTAL - - - - KIF16B uc010gci.2,p.L839V|NM_001199866,p.L839V|ENST00000355755,p.L839V|ENST00000408042,p.L839V|uc002wpg.2,p.L839V|uc002wpf.1,p.L221V|ENST00000354981,p.L839V|uc010gcj.2,p.L850V|uc002wpe.1,p.L221V|uc010gch.2,p.L839V|NM_024704,p.L839V|NM_001199865,p.L839V|ENST00000378003,p.L65V protein_coding uc010gcj.2 nonsynonymous SNV exon20 c.T2548G p.L850V EFKRRQLVKLVNLEKDLVQQKDILK EFKRRQLVKLVNVEKDLVQQKDILK 10.0 5.0 - - 4246_20:16360132-16360132 A>C_EFKRRQLVKLVNVEKDLVQQKDILK 0.0 1:22188571-22188571 A>T 1.0 4287 COLORECTAL - - - - HSPG2 ENST00000374695,p.L1593H|uc009vqd.3,p.L1594H|NM_001291860,p.L1594H|NM_005529,p.L1593H|uc001bfj.3,p.L1593H protein_coding, processed_transcript, nonsense_mediated_decay uc009vqd.3 nonsynonymous SNV exon38 c.T4781A p.L1594H QCQHNAAGEFCELCAPGYYGDATAG QCQHNAAGEFCEHCAPGYYGDATAG 8.0 7.0 - - 4287_1:22188571-22188571 A>T_QCQHNAAGEFCEHCAPGYYGDATAG 0.0 3:37343751-37343751 C>T 1.0 3713 MELANOMA - - - - GOLGA4 uc003cgv.3,p.R388C|ENST00000361924,p.R388C|ENST00000356847,p.R410C|uc003cgw.3,p.R410C|ENST00000437131,p.R259C|uc003cgx.3,p.R269C|NM_002078,p.R388C|NM_001172713,p.R410C|ENST00000450863,p.R393C retained_intron, protein_coding, processed_transcript uc003cgx.3 nonsynonymous SNV exon8 c.C805T p.R269C TLEMKEEEIAQLRSRIKQMTTQGEE TLEMKEEEIAQLCSRIKQMTTQGEE 9.0 4.0 - - 3713_3:37343751-37343751 C>T_TLEMKEEEIAQLCSRIKQMTTQGEE 0.0 3:14209829-14209829 C>T 0.0 3775 CERVICAL - - - 1 XPC NM_004628,p.R155Q|ENST00000285021,p.R155Q|uc011ave.2,p.R155Q|ENST00000511155,p.R149Q retained_intron, protein_coding, nonsense_mediated_decay uc011ave.2 nonsynonymous SNV exon4 c.G464A p.R155Q VLGDVRESTAFSRSLLPVKPVEIEI VLGDVRESTAFSQSLLPVKPVEIEI 8.0 3.0 - - 3775_3:14209829-14209829 C>T_VLGDVRESTAFSQSLLPVKPVEIEI 0.0 17:27208849-27208849 C>G 1.0 3775 CERVICAL - - - - FLOT2 ENST00000585169,p.Q299H|ENST00000394908,p.Q299H|uc002hdc.3,p.Q299H|ENST00000394906,p.Q354H|NM_004475,p.Q299H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002hdc.3 nonsynonymous SNV exon8 c.G897C p.Q299H RRPAEAEAHRIQQIAEGEKVKQVLL RRPAEAEAHRIQHIAEGEKVKQVLL 10.0 8.0 - - 3775_17:27208849-27208849 C>G_RRPAEAEAHRIQHIAEGEKVKQVLL 0.0 16:56871607-56871607 C>A 0.0 4081 COLORECTAL - - - - NUP93 NM_001242796,p.L540M|NM_014669,p.L663M|uc010vhi.2,p.L540M|uc002eka.3,p.L663M|ENST00000542526,p.L540M|ENST00000563405,p.L61M|uc002ekb.3,p.L540M|ENST00000564887,p.L540M|NM_001242795,p.L540M|ENST00000569842,p.L663M|ENST00000308159,p.L663M retained_intron, protein_coding, processed_transcript, TEC uc010vhi.2 nonsynonymous SNV exon16 c.C1618A p.L540M PQISAPQSNKERLKNMALSIAERYR PQISAPQSNKERMKNMALSIAERYR 6.0 6.0 - - 4081_16:56871607-56871607 C>A_PQISAPQSNKERMKNMALSIAERYR 0.0 5:149262993-149262993 T>A 1.0 4317 COLORECTAL - - - - PDE6A uc003lrg.4,p.M712L|ENST00000255266,p.M712L|uc021yfs.1,p.M631L|NM_000440,p.M712L retained_intron, protein_coding uc021yfs.1 nonsynonymous SNV exon15 c.A1891T p.M631L YMMLEQTRKEIVMAMMMTACDLSAI YMMLEQTRKEIVLAMMMTACDLSAI 3.0 10.0 - - 4317_5:149262993-149262993 T>A_YMMLEQTRKEIVLAMMMTACDLSAI 0.0 2:51255027-51255027 A>T 0.0 4196 COLORECTAL - - - - NRXN1 uc021vhh.1,p.F129I|ENST00000406859,p.F129I|ENST00000406316,p.F129I|uc021vhk.1,p.F129I|NM_004801,p.F129I|ENST00000404971,p.F129I|ENST00000401669,p.F129I|uc021vhj.1,p.F129I|ENST00000405581,p.F129I|ENST00000405472,p.F129I|uc021vhg.1,p.F129I|ENST00000402717,p.F129I|NM_001135659,p.F129I|uc021vhi.1,p.F129I retained_intron, protein_coding, processed_transcript uc021vhk.1 nonsynonymous SNV exon2 c.T385A p.F129I VRIRRQFRNTTLFIDQVEAKWVEVK VRIRRQFRNTTLIIDQVEAKWVEVK 5.0 9.0 - - 4196_2:51255027-51255027 A>T_VRIRRQFRNTTLIIDQVEAKWVEVK 0.0 12:52774154-52774154 C>T 0.0 4110 BILE DUCT - - - - KRT84 ENST00000257951,p.E473K|NM_033045,p.E473K|uc001sah.1,p.E473K protein_coding uc001sah.1 nonsynonymous SNV exon7 c.G1417A p.E473K EIATYRRLLEGEESRLCEGVGPVNI EIATYRRLLEGEKSRLCEGVGPVNI 3.0 6.0 - - 4110_12:52774154-52774154 C>T_EIATYRRLLEGEKSRLCEGVGPVNI 0.0 22:21349261-21349261 C>T 1.0 4213 COLORECTAL - - - 1 LZTR1 uc011ahy.2,p.R611W|ENST00000389355,p.R611W|ENST00000215739,p.R630W|uc002zto.3,p.R630W|ENST00000452988,p.R23W|uc002ztn.3,p.R589W|NM_006767,p.R630W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011ahy.2 nonsynonymous SNV exon15 c.C1831T p.R611W ERLSSPLIVEIVRRKQQPPPRTPLD ERLSSPLIVEIVWRKQQPPPRTPLD 9.0 5.0 - - 4213_22:21349261-21349261 C>T_ERLSSPLIVEIVWRKQQPPPRTPLD 0.0 13:41706446-41706446 C>G 0.0 4240 BREAST - - - - KBTBD6 uc001uxu.1,p.E68Q|ENST00000379485,p.E68Q|NM_152903,p.E68Q protein_coding uc001uxu.1 nonsynonymous SNV exon1 c.G202C p.E68Q FYDARLLCDVTIEVVTPGSGPGTGR FYDARLLCDVTIQVVTPGSGPGTGR 6.0 10.0 - - 4240_13:41706446-41706446 C>G_FYDARLLCDVTIQVVTPGSGPGTGR 0.0 16:67778313-67778313 G>A 1.0 3466 MELANOMA - - - - RANBP10 uc010vjx.1,p.S149L|uc010vjv.2,p.S32L|ENST00000602677,p.S149L|uc002eud.3,p.S149L|NM_020850,p.S149L|ENST00000411657,p.S32L|ENST00000425512,p.S17L|ENST00000317506,p.S149L|uc010vjy.1,p.S17L protein_coding uc010vjy.1 nonsynonymous SNV exon3 c.C50T p.S17L KHSYGYHGDDGHSFCSSGTGQPYGP KHSYGYHGDDGHLFCSSGTGQPYGP 5.0 2.0 - - 3466_16:67778313-67778313 G>A_KHSYGYHGDDGHLFCSSGTGQPYGP 0.0 17:29631452-29631452 T>C 0.0 4317 COLORECTAL - - - - EVI2B ENST00000544462,p.I407M|ENST00000577894,p.I392M|ENST00000330927,p.I392M|uc021tuk.1,p.I392M|uc002hgk.2,p.I392M|NM_006495,p.I392M|uc010csq.2,p.I407M protein_coding uc021tuk.1 nonsynonymous SNV exon1 c.A1176G p.I392M LNQDCGDHKSEIIQSFPPLDSLNLP LNQDCGDHKSEIMQSFPPLDSLNLP 5.0 2.0 - - 4317_17:29631452-29631452 T>C_LNQDCGDHKSEIMQSFPPLDSLNLP 0.0 5:140711128-140711128 C>T 1.0 3903 MELANOMA - - ID=COSM139619,COSM139618;OCCURENCE=5(skin) - PCDHGA1 NM_031993,p.R293C|ENST00000378105,p.R293C|uc011dan.2,p.R293C|ENST00000517417,p.R293C|uc003lji.2,p.R293C|NM_018912,p.R293C protein_coding uc011dan.2 nonsynonymous SNV exon1 c.C877T p.R293C FHNVDHRVAQIFRLDSYTGEISNKE FHNVDHRVAQIFCLDSYTGEISNKE 5.0 6.0 - - 3903_5:140711128-140711128 C>T_FHNVDHRVAQIFCLDSYTGEISNKE 0.0 11:46391078-46391078 C>T 1.0 3713 MELANOMA - - - - DGKZ uc010rgr.2,p.S164L|ENST00000421244,p.S160L|ENST00000456247,p.S159L|uc001ncn.1,p.S348L|uc001nch.2,p.S176L|NM_001105540,p.S348L|ENST00000343674,p.S176L|uc001ncl.2,p.S160L|ENST00000527911,p.S160L|ENST00000454345,p.S348L|ENST00000395574,p.S126L|ENST00000532868,p.S164L|NM_001199266,p.S160L|uc001ncm.2,p.S159L|NM_201533,p.S164L|uc009yky.1,p.S160L|NM_003646,p.S160L|NM_001199267,p.S159L|NM_201532,p.S176L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010rgr.2 nonsynonymous SNV exon5 c.C491T p.S164L KINFRCKPSFRESGSRNVREPTFVR KINFRCKPSFRELGSRNVREPTFVR 8.0 7.0 - - 3713_11:46391078-46391078 C>T_KINFRCKPSFRELGSRNVREPTFVR 0.0 9:139794982-139794982 C>A 1.0 4252 COLORECTAL - - - - TRAF2 ENST00000359662,p.P126T|uc010nbv.1,p.P126T protein_coding, processed_transcript uc010nbv.1 nonsynonymous SNV exon4 c.C376A p.P126T WKGTLKEYEVKMPACGMVTEAPAVG WKGTLKEYEVKMTACGMVTEAPAVG 9.0 7.0 - - 4252_9:139794982-139794982 C>A_WKGTLKEYEVKMTACGMVTEAPAVG 0.0 11:62639124-62639124 A>C 1.0 4136 BREAST - - - - SLC3A2 ENST00000377891,p.K63T|uc001nwc.3,p.K63T|NM_001012662,p.K63T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001nwc.3 nonsynonymous SNV exon2 c.A188C p.K63T LLASSDPPALASKNAEVTVETGFHH LLASSDPPALASTNAEVTVETGFHH 10.0 7.0 - - 4136_11:62639124-62639124 A>C_LLASSDPPALASTNAEVTVETGFHH 0.0 15:32685308-32685308 G>A 1.0 4326 BREAST - - - - GOLGA8K ENST00000512626,p.P551L|NM_001282493,p.P551L protein_coding NM_001282493 nonsynonymous SNV exon18 c.C1652T p.P551L NGHRKFLAAAHNPADEPGPGAPAPQ NGHRKFLAAAHNLADEPGPGAPAPQ 6.0 6.0 - - 4326_15:32685308-32685308 G>A_NGHRKFLAAAHNLADEPGPGAPAPQ 0.0 22:50192330-50192330 T>G 1.0 4320 COLORECTAL - - - - BRD1 uc003biv.3,p.K554T|ENST00000542442,p.K247T|ENST00000342989,p.K149T|NM_014577,p.K554T|uc011arg.2,p.K608T|ENST00000457780,p.K554T|ENST00000404760,p.K554T|ENST00000216267,p.K554T|ENST00000438393,p.K186T|uc011arf.2,p.K149T|uc003biu.4,p.K554T|ENST00000404034,p.K554T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011arg.2 nonsynonymous SNV exon5 c.A1823C p.K608T LRKREKLKREQVKVEQVAMELRLTP LRKREKLKREQVTVEQVAMELRLTP 7.0 2.0 - - 4320_22:50192330-50192330 T>G_LRKREKLKREQVTVEQVAMELRLTP 0.0 8:91075378-91075378 T>A 0.0 4077 BILE DUCT - - - - CALB1 ENST00000265431,p.I184F|ENST00000518457,p.I127F|uc011lge.1,p.I127F|NM_004929,p.I184F|uc003yel.1,p.I184F retained_intron, protein_coding uc011lge.1 nonsynonymous SNV exon8 c.A379T p.I127F PVQENFLLKFQGIKMCGKEFNKAFE PVQENFLLKFQGFKMCGKEFNKAFE 1.0 10.0 - - 4077_8:91075378-91075378 T>A_PVQENFLLKFQGFKMCGKEFNKAFE 0.0 3:189681871-189681871 T>A 1.0 3713 MELANOMA - - - - LEPREL1 uc003fsg.3,p.K456I|NM_001134418,p.K456I|NM_018192,p.K637I|uc011bsk.2,p.K637I|ENST00000427335,p.K456I|ENST00000319332,p.K637I retained_intron, protein_coding uc011bsk.2 nonsynonymous SNV exon14 c.A1910T p.K637I MDAKTVTASIKPKCGRMISFSSGGE MDAKTVTASIKPICGRMISFSSGGE 2.0 3.0 - - 3713_3:189681871-189681871 T>A_MDAKTVTASIKPICGRMISFSSGGE 0.0 3:111564691-111564691 C>T 1.0 3713 MELANOMA - - - - PLCXD2 uc003dxz.3,p.P297L|NM_153268,p.P297L|ENST00000393934,p.P297L retained_intron, protein_coding, processed_transcript uc003dxz.3 nonsynonymous SNV exon4 c.C890T p.P297L TLVHRLALIPVYPLRFSRRS TLVHRLALIPVYLLRFSRRS 1.0 2.0 - - 3713_3:111564691-111564691 C>T_TLVHRLALIPVYLLRFSRRS 0.0 12:4705427-4705427 T>G 0.0 3713 MELANOMA - - - - DYRK4 uc009zeh.1,p.L247R|ENST00000010132,p.L132R|uc001qmy.2,p.L132R|ENST00000542744,p.L247R|ENST00000543431,p.L132R|ENST00000540757,p.L132R|NM_003845,p.L132R|uc001qmx.3,p.L132R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009zeh.1 nonsynonymous SNV exon7 c.T740G p.L247R KCLDHKNNELVALKIIRNKKRFHQQ KCLDHKNNELVARKIIRNKKRFHQQ 5.0 9.0 - - 3713_12:4705427-4705427 T>G_KCLDHKNNELVARKIIRNKKRFHQQ 0.0 12:4700436-4700436 G>C 0.0 3466 MELANOMA - - - - DYRK4 ENST00000010132,p.K30N|ENST00000543431,p.K30N|uc001qmx.3,p.K30N|ENST00000542744,p.K145N|uc001qmy.2,p.K30N|NM_003845,p.K30N|uc009zeh.1,p.K145N|ENST00000540757,p.K30N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009zeh.1 nonsynonymous SNV exon5 c.G435C p.K145N KTQDPKAEEKSPKKQKVTLTAAEAL KTQDPKAEEKSPNKQKVTLTAAEAL 6.0 3.0 - - 3466_12:4700436-4700436 G>C_KTQDPKAEEKSPNKQKVTLTAAEAL 0.0 4:126372414-126372414 G>C 0.0 4245 COLORECTAL - - - 1 FAT4 NM_024582,p.E3415Q|ENST00000335110,p.E1713Q|NM_001291285,p.E3417Q|uc003ifj.4,p.E3415Q|uc003ifi.1,p.E893Q|uc011cgp.2,p.E1713Q|ENST00000394329,p.E3415Q|NM_001291303,p.E3417Q retained_intron, protein_coding uc011cgp.2 nonsynonymous SNV exon9 c.G5137C p.E1713Q IFTLNIYSVQISEGVPIGTHVTFVS IFTLNIYSVQISQGVPIGTHVTFVS 4.0 3.0 - - 4245_4:126372414-126372414 G>C_IFTLNIYSVQISQGVPIGTHVTFVS 0.0 12:118198975-118198975 G>A 0.0 4196 COLORECTAL - - - - KSR2 NM_173598,p.T247M|ENST00000425217,p.T247M|uc001two.2,p.T247M|ENST00000339824,p.T276M retained_intron, protein_coding, processed_transcript uc001two.2 nonsynonymous SNV exon4 c.C740T p.T247M TPNIVTTVTPPGTPPMRKKNKLKPP TPNIVTTVTPPGMPPMRKKNKLKPP 5.0 7.0 - - 4196_12:118198975-118198975 G>A_TPNIVTTVTPPGMPPMRKKNKLKPP 0.0 19:33703262-33703262 A>T 0.0 4298 COLORECTAL - - - - SLC7A10 ENST00000590036,p.S242T|uc002num.2,p.S242T|uc010xrq.2,p.S215T|ENST00000253188,p.S242T|NM_019849,p.S242T protein_coding, nonsense_mediated_decay uc010xrq.2 nonsynonymous SNV exon4 c.T643A p.S215T SVGHLALAFLQGSFAFSGWNFLNYV SVGHLALAFLQGTFAFSGWNFLNYV 2.0 6.0 - - 4298_19:33703262-33703262 A>T_SVGHLALAFLQGTFAFSGWNFLNYV 0.0 6:87726049-87726049 G>A 0.0 4259 COLORECTAL - - - - HTR1E ENST00000305344,p.G333S|uc021zcg.1,p.G333S|uc003pli.3,p.G333S|ENST00000369584,p.G333S|NM_000865,p.G333S protein_coding uc021zcg.1 nonsynonymous SNV exon1 c.G997A p.G333S VSSEVADFLTWLGYVNSLINPLLYT VSSEVADFLTWLSYVNSLINPLLYT 1.0 8.0 - - 4259_6:87726049-87726049 G>A_VSSEVADFLTWLSYVNSLINPLLYT 0.0 10:61005340-61005340 G>T 0.0 4326 BREAST - - - - PHYHIPL uc001jkl.4,p.V328F|uc001jkm.4,p.V348F|ENST00000373880,p.V374F|uc001jkk.4,p.V374F|NM_032439,p.V374F|ENST00000373878,p.V348F|NM_001143774,p.V348F protein_coding, processed_transcript, nonsense_mediated_decay uc001jkm.4 nonsynonymous SNV exon5 c.G1042T p.V348F KKDPSCKTCNISVGR KKDPSCKTCNISFGR 3.0 2.0 - - 4326_10:61005340-61005340 G>T_KKDPSCKTCNISFGR 0.0 1:223408366-223408366 G>C 0.0 4126 NSCLC - - - - SUSD4 uc001hnz.2,p.C267W|ENST00000344029,p.C267W|NM_001037175,p.C267W protein_coding, processed_transcript uc001hnz.2 nonsynonymous SNV exon6 c.C801G p.C267W PHIRLAAAVLYFCPVLKSSPTPAPT PHIRLAAAVLYFWPVLKSSPTPAPT 3.0 1.0 - - 4126_1:223408366-223408366 G>C_PHIRLAAAVLYFWPVLKSSPTPAPT 0.0 15:25222154-25222154 G>A 0.0 4155 MELANOMA - - - - SNRPN ENST00000579070,p.G133E|uc021sga.1,p.G133E|uc001yws.1,p.G133E|ENST00000400100,p.G133E|ENST00000577565,p.G133E|NM_022805,p.G133E|ENST00000400098,p.G133E|uc001ywq.1,p.G133E|ENST00000346403,p.G133E|uc001ywt.1,p.G133E|NM_003097,p.G133E|uc001ywr.1,p.G133E|uc021sgb.1,p.G136E|NM_022807,p.G133E|ENST00000444203,p.G137E|uc001ywp.1,p.G133E|NM_022806,p.G133E|NM_022808,p.G133E|ENST00000390687,p.G133E|ENST00000554227,p.G137E|ENST00000400097,p.G133E protein_coding, processed_transcript uc021sgb.1 nonsynonymous SNV exon5 c.G407A p.G136E PQAPAGLAGPVRGVGGPSQQVMTPQ PQAPAGLAGPVREVGGPSQQVMTPQ 9.0 7.0 - - 4155_15:25222154-25222154 G>A_PQAPAGLAGPVREVGGPSQQVMTPQ 0.0 2:174227970-174227970 G>C 1.0 4284 COLORECTAL - - - - CDCA7 NM_145810,p.R55P|ENST00000347703,p.R55P|ENST00000392567,p.R55P|uc002uid.1,p.R55P retained_intron, protein_coding, nonsense_mediated_decay uc002uid.1 nonsynonymous SNV exon3 c.G164C p.R55P SDNFANTRLQSVREGCRTRSQCRHS SDNFANTRLQSVPEGCRTRSQCRHS 10.0 7.0 - - 4284_2:174227970-174227970 G>C_SDNFANTRLQSVPEGCRTRSQCRHS 0.0 3:30691841-30691841 G>A 1.0 4284 COLORECTAL - - - 1 TGFBR2 NM_001024847,p.D140N|uc003cen.3,p.D140N|ENST00000295754,p.D115N|uc003ceo.3,p.D115N|ENST00000359013,p.D140N|NM_003242,p.D115N protein_coding uc003ceo.3 nonsynonymous SNV exon3 c.G343A p.D115N DPKLPYHDFILEDAASPKCIMKEKK DPKLPYHDFILENAASPKCIMKEKK 9.0 1.0 - - 4284_3:30691841-30691841 G>A_DPKLPYHDFILENAASPKCIMKEKK 0.0 8:146067588-146067588 G>A 1.0 4237 NSCLC - - - - ZNF7 uc011lln.2,p.E270K|uc010mge.3,p.E377K|ENST00000544249,p.E270K|ENST00000446747,p.E377K|NM_001282797,p.E270K|uc003zek.4,p.E270K|NM_001282795,p.E377K|uc003zeg.4,p.E366K|NM_003416,p.E366K|ENST00000528372,p.E366K|ENST00000325241,p.E366K retained_intron, protein_coding, processed_transcript uc011lln.2 nonsynonymous SNV exon4 c.G808A p.E270K RTHTGERPYPCKECGKAFSQSSTLA RTHTGERPYPCKKCGKAFSQSSTLA 8.0 9.0 - - 4237_8:146067588-146067588 G>A_RTHTGERPYPCKKCGKAFSQSSTLA 0.0 4:69796933-69796933 ->T 0.0 4158 COLORECTAL - - ID=COSM1430668;OCCURENCE=1(large_intestine) - UGT2A3 ENST00000420231,p.P53fs|uc003hef.2,p.P342fs|NM_024743,p.P342fs|ENST00000251566,p.P342fs protein_coding, nonsense_mediated_decay uc003hef.2 frameshift insertion exon4 c.1023dupA p.P342fs PQKVLWRYKGKKPSTLGANTRLYDW PQKVLWRYKGKKTIHIRSQYSAV 4.0 9.0 - - 4158_4:69796933-69796933 ->T_PQKVLWRYKGKKTIHIRSQYSAV 0.0 2:225670195-225670195 G>A 1.0 4000 MELANOMA - - - - DOCK10 NM_014689,p.S1289F|uc010fwz.1,p.S1289F|ENST00000409592,p.S1283F|ENST00000258390,p.S1289F|NM_001290263,p.S1283F|uc002vob.2,p.S1283F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010fwz.1 nonsynonymous SNV exon35 c.C3866T p.S1289F AISTVNHADSRASLASLDSNPSTNE AISTVNHADSRAFLASLDSNPSTNE 10.0 7.0 - - 4000_2:225670195-225670195 G>A_AISTVNHADSRAFLASLDSNPSTNE 0.0 7:154862986-154862986 C>T 0.0 4329 COLORECTAL - - - - HTR5A ENST00000287907,p.T126M|uc003wlu.2,p.T126M|NM_024012,p.T126M protein_coding, processed_transcript uc003wlu.2 nonsynonymous SNV exon1 c.C377T p.T126M CQLWIACDVLCCTASIWNVTAIALD CQLWIACDVLCCMASIWNVTAIALD 1.0 6.0 - - 4329_7:154862986-154862986 C>T_CQLWIACDVLCCMASIWNVTAIALD 0.0 5:36677147-36677147 G>T 0.0 4245 COLORECTAL - - - - SLC1A3 NM_001289939,p.V195F|ENST00000265113,p.V241F|uc003jkj.4,p.V241F|uc011cox.2,p.V134F|ENST00000381918,p.V241F|NM_004172,p.V241F|uc010iuy.3,p.V241F|NM_001166695,p.V241F retained_intron, protein_coding, processed_transcript uc011cox.2 nonsynonymous SNV exon5 c.G400T p.V134F EELVPVPGSVNGVNALGLVVFSMCF EELVPVPGSVNGFNALGLVVFSMCF 6.0 3.0 - - 4245_5:36677147-36677147 G>T_EELVPVPGSVNGFNALGLVVFSMCF 0.0 5:140750281-140750281 A>T 0.0 3795 MELANOMA - - - - PCDHGB3 NM_018924,p.E107V|ENST00000576222,p.E107V|uc003ljw.2,p.E107V|NM_032097,p.E107V|uc011dat.2,p.E107V protein_coding uc011dat.2 nonsynonymous SNV exon1 c.A320T p.E107V ICGKKSTCVLEFEMVAEKPLNFFHV ICGKKSTCVLEFVMVAEKPLNFFHV 3.0 10.0 - - 3795_5:140750281-140750281 A>T_ICGKKSTCVLEFVMVAEKPLNFFHV 0.0 21:45539291-45539291 G>A 1.0 4129 NSCLC - - - - PWP2 NM_005049,p.E359K|ENST00000291576,p.E359K|uc002zeb.3,p.E359K retained_intron, protein_coding, processed_transcript uc002zeb.3 nonsynonymous SNV exon10 c.G1075A p.E359K FGCSGLGQLLVWEWQSESYVLKQQG FGCSGLGQLLVWKWQSESYVLKQQG 8.0 7.0 - - 4129_21:45539291-45539291 G>A_FGCSGLGQLLVWKWQSESYVLKQQG 0.0 5:140740133-140740133 A>T 1.0 4129 NSCLC - - - - PCDHGB2 uc011dar.2,p.E144V|ENST00000522605,p.E144V|NM_032096,p.E144V|uc003ljs.2,p.E144V|NM_018923,p.E144V protein_coding uc011dar.2 nonsynonymous SNV exon1 c.A431T p.E144V LFKQTKINLKIGESTKPGTTFPLDP LFKQTKINLKIGVSTKPGTTFPLDP 3.0 8.0 - - 4129_5:140740133-140740133 A>T_LFKQTKINLKIGVSTKPGTTFPLDP 0.0 4:74280829-74280829 C>T 0.0 4301 MELANOMA - - - - ALB uc011cbe.2,p.T58I|NM_000477,p.T379I|ENST00000509063,p.T379I|ENST00000503124,p.T229I|ENST00000295897,p.T379I|uc003hgw.4,p.T187I|uc011cbf.2,p.T269I|uc003hgs.4,p.T379I|ENST00000401494,p.T264I|ENST00000415165,p.T187I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cbf.2 nonsynonymous SNV exon8 c.C806T p.T269I VVLLLRLAKTYETTLEKCCAAADPH VVLLLRLAKTYEITLEKCCAAADPH 3.0 2.0 - - 4301_4:74280829-74280829 C>T_VVLLLRLAKTYEITLEKCCAAADPH 0.0 19:6468407-6468407 T>G 1.0 4317 COLORECTAL - - - - DENND1C uc010xje.2,p.E499D|uc002mfe.3,p.E543D|NM_001290331,p.E499D|uc002mfb.3,p.E93D|NM_024898,p.E543D|ENST00000381480,p.E543D|uc002mfc.3,p.E93D|ENST00000543576,p.E499D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010xje.2 nonsynonymous SNV exon20 c.A1497C p.E499D PLSPEDEGCPWAEEALDSSFLGSGE PLSPEDEGCPWADEALDSSFLGSGE 5.0 1.0 - - 4317_19:6468407-6468407 T>G_PLSPEDEGCPWADEALDSSFLGSGE 0.0 13:36827969-36827969 G>A 0.0 4316 COLORECTAL 0.0041 - - - CCDC169,CCDC169-SOHLH2 ENST00000506800,p.R45C|NM_001144983,p.R45C|ENST00000511166,p.R47C|ENST00000554962,p.R47C|uc010abm.3,p.R147C|uc010tek.2,p.R45C|uc010tei.2,p.R47C|NM_001144986,p.R45C|uc010abo.3,p.R45C|ENST00000510088,p.R45C|NM_001144981,p.R147C|ENST00000491049,p.R45C|NM_001198910,p.R47C|NM_001144982,p.R45C|NM_001144985,p.R45C|uc010tem.2,p.R147C|NM_001198908,p.R147C|uc010tel.2,p.R47C|uc010abn.3,p.R45C|ENST00000503173,p.R147C|ENST00000379864,p.R45C|NM_001144984,p.R47C|ENST00000239860,p.R47C|uc010tej.2,p.R45C|ENST00000239859,p.R147C|ENST00000379862,p.R45C protein_coding uc010tem.2 nonsynonymous SNV exon6 c.C439T p.R147C QESKAYQKINNERRTYLAEMSQGSG QESKAYQKINNECRTYLAEMSQGSG 4.0 4.0 - - 4316_13:36827969-36827969 G>A_QESKAYQKINNECRTYLAEMSQGSG 0.0 20:23614602-23614602 G>A 1.0 4287 COLORECTAL - - - - CST3 NM_000099,p.P131L|uc002wtm.3,p.P131L|NM_001288614,p.P131L|ENST00000398411,p.P131L|uc002wtn.1,p.P131L|ENST00000398409,p.P131L|ENST00000376925,p.P131L protein_coding uc002wtn.1 nonsynonymous SNV exon3 c.C392T p.P131L RKAFCSFQIYAVPWQGTMTLSKSTC RKAFCSFQIYAVLWQGTMTLSKSTC 10.0 1.0 - - 4287_20:23614602-23614602 G>A_RKAFCSFQIYAVLWQGTMTLSKSTC 0.0 19:9677481-9677481 A>G 1.0 4037 NSCLC - - - - ZNF121 uc010xkp.1,p.L103P|ENST00000591447,p.L103P|uc010xkq.1,p.L103P|NM_001008727,p.L103P|ENST00000320451,p.L103P|ENST00000586602,p.L103P|uc010dwt.2,p.L103P protein_coding, processed_transcript uc010xkq.1 nonsynonymous SNV exon5 c.T308C p.L103P SDCEEAFVDQSHLQANRITHNGETL SDCEEAFVDQSHPQANRITHNGETL 8.0 10.0 - - 4037_19:9677481-9677481 A>G_SDCEEAFVDQSHPQANRITHNGETL 0.0 17:80071449-80071449 C>T 1.0 3678 MELANOMA - - - - CCDC57 uc002kdy.3,p.R226Q|ENST00000392346,p.R277Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002kdy.3 nonsynonymous SNV exon5 c.G677A p.R226Q ASLVRSTWAPGMRGGMNGGSSSVCK ASLVRSTWAPGMQGGMNGGSSSVCK 8.0 3.0 - - 3678_17:80071449-80071449 C>T_ASLVRSTWAPGMQGGMNGGSSSVCK 0.0 19:58189982-58189982 G>T 0.0 4284 COLORECTAL - - - - ZSCAN4 ENST00000318203,p.E337D|NM_152677,p.E337D|uc002qpu.3,p.E337D protein_coding uc002qpu.3 nonsynonymous SNV exon5 c.G1011T p.E337D CHLLAHQRRHRNERPFVCPECQKGF CHLLAHQRRHRNDRPFVCPECQKGF 1.0 7.0 - - 4284_19:58189982-58189982 G>T_CHLLAHQRRHRNDRPFVCPECQKGF 0.0 2:169716024-169716024 C>- 0.0 4301 MELANOMA - - - - NOSTRIN ENST00000317647,p.N352fs|ENST00000445023,p.N274fs|uc010fpu.3,p.N324fs|ENST00000458381,p.N409fs|ENST00000421711,p.N324fs|uc002ueg.3,p.N352fs|uc002ueh.3,p.N274fs|NM_001171631,p.N409fs|ENST00000397206,p.N274fs|NM_052946,p.N274fs|NM_001171632,p.N324fs|ENST00000397209,p.N324fs|ENST00000444448,p.N409fs|NM_001039724,p.N352fs|uc002uef.3,p.N409fs|uc002uek.3,p.N36fs retained_intron, protein_coding, nonsense_mediated_decay uc010fpu.3 frameshift deletion exon12 c.972delC p.N324fs KSQKDTAALMDENNLKLDLLEANSY KSQKDTAALMDEKI 8.0 1.0 - - 4301_2:169716024-169716024 C>-_KSQKDTAALMDEKI 0.0 7:7559731-7559731 G>A 0.0 3903 MELANOMA - - - - COL28A1 ENST00000399429,p.P259S|NM_001037763,p.P259S|uc003src.1,p.P259S retained_intron, protein_coding, nonsense_mediated_decay uc003src.1 nonsynonymous SNV exon6 c.C775T p.P259S PGDPGPPGTHGNPGIKGERGPKGNP PGDPGPPGTHGNSGIKGERGPKGNP 3.0 1.0 - - 3903_7:7559731-7559731 G>A_PGDPGPPGTHGNSGIKGERGPKGNP 0.0 12:57962767-57962767 G>A 0.0 4301 MELANOMA - - - - KIF5A uc001sor.1,p.G246R|ENST00000455537,p.G246R|uc010srr.1,p.G157R|ENST00000286452,p.G157R|NM_004984,p.G246R retained_intron, protein_coding uc010srr.1 nonsynonymous SNV exon6 c.G469A p.G157R AGSEKVSKTGAEGAVLDEAKNINKS AGSEKVSKTGAERAVLDEAKNINKS 3.0 7.0 - - 4301_12:57962767-57962767 G>A_AGSEKVSKTGAERAVLDEAKNINKS 0.0 X:152815031-152815031 C>A 0.0 4246 COLORECTAL - - - 1 ATP2B3 ENST00000370181,p.S458Y|ENST00000263519,p.S472Y|NM_021949,p.S472Y|uc004fhs.1,p.S472Y|ENST00000359149,p.S472Y|ENST00000370186,p.S458Y|NM_001001344,p.S472Y|ENST00000349466,p.S472Y|uc004fht.1,p.S472Y|ENST00000393842,p.S458Y protein_coding, processed_transcript uc004fht.1 nonsynonymous SNV exon9 c.C1415A p.S472Y ACETMGNATAICSDKTGTLTTNRMT ACETMGNATAICYDKTGTLTTNRMT 3.0 3.0 - - 4246_X:152815031-152815031 C>A_ACETMGNATAICYDKTGTLTTNRMT 0.0 15:58853128-58853128 A>C 1.0 4046 OVARIAN - - - - LIPC uc010bga.2,p.T373P|ENST00000433326,p.T312P|ENST00000356113,p.T373P|uc002afa.2,p.T373P|ENST00000299022,p.T373P|ENST00000414170,p.T373P|uc010bfz.1,p.T373P|NM_000236,p.T373P|uc010ugy.2,p.T312P|uc010bgb.1,p.T271P retained_intron, protein_coding uc010ugy.2 nonsynonymous SNV exon6 c.A934C p.T312P INQTETPIQTTFTMSLLGTKEKMQK INQTETPIQTTFPMSLLGTKEKMQK 4.0 3.0 - - 4046_15:58853128-58853128 A>C_INQTETPIQTTFPMSLLGTKEKMQK 0.0 16:23226601-23226601 C>A 0.0 4252 COLORECTAL - - - - SCNN1G ENST00000300061,p.S587R|uc002dlm.1,p.S587R|NM_001039,p.S587R protein_coding uc002dlm.1 nonsynonymous SNV exon13 c.C1761A p.S587R WKQAPPCPEAPRSPQGQDNPALDID WKQAPPCPEAPRRPQGQDNPALDID 4.0 9.0 - - 4252_16:23226601-23226601 C>A_WKQAPPCPEAPRRPQGQDNPALDID 0.0 19:56467408-56467408 G>A 0.0 4177 PANCREATIC - - - - NLRP8 ENST00000291971,p.V662I|ENST00000590542,p.V662I|NM_176811,p.V662I|uc002qmh.3,p.V662I|uc010etg.3,p.V662I protein_coding uc010etg.3 nonsynonymous SNV exon3 c.G1984A p.V662I KRCQYLHEVELTVTLNFMNVWKLSS KRCQYLHEVELTITLNFMNVWKLSS 1.0 8.0 - - 4177_19:56467408-56467408 G>A_KRCQYLHEVELTITLNFMNVWKLSS 0.0 16:29845289-29845289 T>C 1.0 4258 ENDOMETRIAL - - - - MVP ENST00000563915,p.V160A|NM_001293204,p.V160A|NM_001293205,p.V160A|NM_017458,p.V160A|ENST00000395353,p.V160A|uc002duj.3,p.V160A|NM_005115,p.V160A|ENST00000357402,p.V160A|uc002dui.3,p.V160A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002duj.3 nonsynonymous SNV exon5 c.T479C p.V160A PGTYIPRKEVEVVEIIQATIIRQNQ PGTYIPRKEVEVAEIIQATIIRQNQ 10.0 3.0 - - 4258_16:29845289-29845289 T>C_PGTYIPRKEVEVAEIIQATIIRQNQ 0.0 16:615053-615053 G>A 0.0 4158 COLORECTAL - - - - PRR35 NM_145270,p.E488K|ENST00000409413,p.E488K|uc002chk.3,p.E488K protein_coding uc002chk.3 nonsynonymous SNV exon3 c.G1462A p.E488K GPQALGEAWGRPELGPVLTGGTPEP GPQALGEAWGRPKLGPVLTGGTPEP 1.0 10.0 - - 4158_16:615053-615053 G>A_GPQALGEAWGRPKLGPVLTGGTPEP 0.0 6:28402433-28402433 G>A 1.0 3678 MELANOMA - - - - ZSCAN23 ENST00000289788,p.H327Y|NM_001012455,p.H327Y|uc003nli.4,p.H327Y protein_coding, processed_transcript, nonsense_mediated_decay uc003nli.4 nonsynonymous SNV exon4 c.C979T p.H327Y SQNAGLFHHLRIHTGEKPYQCNQCN SQNAGLFHHLRIYTGEKPYQCNQCN 5.0 3.0 - - 3678_6:28402433-28402433 G>A_SQNAGLFHHLRIYTGEKPYQCNQCN 0.0 9:32541506-32541506 G>A 1.0 3716 MELANOMA - - - - TOPORS NM_001195622,p.S941F|NM_005802,p.S1006F|ENST00000360538,p.S1006F|ENST00000379858,p.S941F|uc003zrb.3,p.S1006F|uc003zrc.3,p.S941F protein_coding uc003zrc.3 nonsynonymous SNV exon2 c.C2822T p.S941F QTLDVREESTFVSDLENQPSNIVSL QTLDVREESTFVFDLENQPSNIVSL 8.0 7.0 - - 3716_9:32541506-32541506 G>A_QTLDVREESTFVFDLENQPSNIVSL 0.0 5:161569200-161569200 A>T 0.0 4266 COLORECTAL - - - - GABRG2 uc003lyz.4,p.D267V|ENST00000356592,p.D267V|uc003lyy.4,p.D267V|NM_198903,p.D307V|uc010jjc.3,p.D307V|NM_198904,p.D267V|NM_000816,p.D267V|ENST00000393933,p.D172V|ENST00000522053,p.D172V|ENST00000361925,p.D267V|ENST00000414552,p.D307V|uc011dej.2,p.D172V protein_coding, nonsense_mediated_decay uc011dej.2 nonsynonymous SNV exon8 c.A515T p.D172V TSGDYVVMSVYFDLSRRMGYFTIQT TSGDYVVMSVYFVLSRRMGYFTIQT 1.0 2.0 - - 4266_5:161569200-161569200 A>T_TSGDYVVMSVYFVLSRRMGYFTIQT 0.0 18:6824798-6824798 C>T 0.0 4155 MELANOMA - - - - LINC01387,ARHGAP28 ENST00000583410,p.L19F|ENST00000584387,p.L27F|ENST00000400091,p.L54F|ENST00000383472,p.L54F retained_intron, protein_coding, nonsense_mediated_decay ENST00000584387 nonsynonymous SNV exon2 c.C79T p.L27F KSIPRCRRINRMLSNESLHPPAFSR KSIPRCRRINRMFSNESLHPPAFSR 5.0 5.0 - - 4155_18:6824798-6824798 C>T_KSIPRCRRINRMFSNESLHPPAFSR 0.0 X:144904117-144904117 ->C 0.0 4177 PANCREATIC - - ID=COSM1466167;OCCURENCE=1(large_intestine) - SLITRK2 uc010nso.3,p.Q58fs|uc011mws.2,p.Q58fs|uc011mwt.2,p.Q58fs|ENST00000370490,p.Q58fs|uc011mwr.2,p.Q58fs|uc004fcg.3,p.Q58fs|NM_032539,p.Q58fs|NM_001144009,p.Q58fs|ENST00000335565,p.Q58fs|uc022cfn.1,p.Q58fs|NM_001144010,p.Q58fs|ENST00000428560,p.Q58fs|ENST00000434188,p.Q58fs|NM_001144006,p.Q58fs|uc010nsp.3,p.Q58fs|uc004fcd.3,p.Q58fs|uc011mwq.2,p.Q58fs|NM_001144003,p.Q58fs|NM_001144005,p.Q58fs|NM_001144004,p.Q58fs|NM_001144008,p.Q58fs|ENST00000447897,p.Q58fs|ENST00000413937,p.Q58fs protein_coding uc022cfn.1 frameshift insertion exon1 c.175dupC p.Q58fs CENKGFTTVSLLQPPQYRIYQLFLN CENKGFTTVSLLQPPPVSNLSAFSQWKPLDKTVSKRICQLLQRGDSSPR 1.0 9.0 - - 4177_X:144904117-144904117 ->C_CENKGFTTVSLLQPPPVSNLSAFSQWKPLDKTVSKRICQLLQRGDSSPR 0.0 11:71850855-71850855 C>T 0.0 3919 MELANOMA - - - - FOLR3 ENST00000456237,p.R282C|ENST00000442948,p.R239C|uc001ory.1,p.R282C|ENST00000445078,p.R280C retained_intron, protein_coding, nonsense_mediated_decay uc001ory.1 nonsynonymous SNV exon5 c.C844T p.R282C FYAAAMNAGAPSRGIIDS FYAAAMNAGAPSCGIIDS 1.0 9.0 - - 3919_11:71850855-71850855 C>T_FYAAAMNAGAPSCGIIDS 0.0 1:100353574-100353574 C>T 1.0 3713 MELANOMA - - - - AGL ENST00000294724,p.L908F|uc001dsn.1,p.L891F|NM_000642,p.L908F|uc001dsk.1,p.L908F|NM_000645,p.L891F|NM_000643,p.L908F|uc001dsi.1,p.L908F|ENST00000370165,p.L908F|ENST00000370163,p.L908F|ENST00000361915,p.L908F|ENST00000361522,p.L891F|uc001dsl.1,p.L908F|uc001dsj.1,p.L908F|NM_000646,p.L892F|NM_000028,p.L908F|ENST00000361302,p.L892F|uc001dsm.1,p.L892F|ENST00000370161,p.L892F|NM_000644,p.L908F protein_coding, processed_transcript uc001dsn.1 nonsynonymous SNV exon19 c.C2671T p.L891F ASRLTLAELNQILYRCESEEKEDGG ASRLTLAELNQIFYRCESEEKEDGG 4.0 8.0 - - 3713_1:100353574-100353574 C>T_ASRLTLAELNQIFYRCESEEKEDGG 0.0 1:173506133-173506133 C>A 0.0 4213 COLORECTAL - - - - SLC9C2 ENST00000367714,p.A535S|uc009wwe.2,p.A93S|NM_178527,p.A535S|uc001giz.2,p.A535S|ENST00000536496,p.A433S protein_coding, processed_transcript uc009wwe.2 nonsynonymous SNV exon7 c.G277T p.A93S EKQRNNGILEIEAARILIGAAKCYY EKQRNNGILEIESARILIGAAKCYY 2.0 3.0 - - 4213_1:173506133-173506133 C>A_EKQRNNGILEIESARILIGAAKCYY 0.0 12:111356916-111356916 A>T 0.0 2591 MELANOMA - - - - MYL2 ENST00000228841,p.F29I|uc001try.4,p.F29I|NM_000432,p.F29I retained_intron, protein_coding uc001try.4 nonsynonymous SNV exon2 c.T85A p.F29I VFSMFEQTQIQEFKEAFTIMDQNRD VFSMFEQTQIQEIKEAFTIMDQNRD 1.0 5.0 - - 2591_12:111356916-111356916 A>T_VFSMFEQTQIQEIKEAFTIMDQNRD 0.0 1:152275873-152275873 T>A 0.0 4037 NSCLC - - - - FLG ENST00000368799,p.H3830L|NM_002016,p.H3830L|uc001ezu.1,p.H3830L protein_coding uc001ezu.1 nonsynonymous SNV exon3 c.A11489T p.H3830L QSGDGSRHSGSRHHEASTQADSSRH QSGDGSRHSGSRLHEASTQADSSRH 1.0 10.0 - - 4037_1:152275873-152275873 T>A_QSGDGSRHSGSRLHEASTQADSSRH 0.0 5:90021044-90021044 T>G 0.0 3795 MELANOMA - - - - GPR98 NM_032119,p.F3350V|ENST00000405460,p.F3350V|uc003kjv.3,p.F950V|uc003kju.3,p.F3350V retained_intron, protein_coding, processed_transcript uc003kjv.3 nonsynonymous SNV exon15 c.T2848G p.F950V NSVFTFTSGFKLFLVQTIIILESSQ NSVFTFTSGFKLVLVQTIIILESSQ 5.0 10.0 - - 3795_5:90021044-90021044 T>G_NSVFTFTSGFKLVLVQTIIILESSQ 0.0 11:60173452-60173452 T>G 0.0 4258 ENDOMETRIAL - - - - MS4A14 uc031qbe.1,p.S170A|NM_001261827,p.S170A|ENST00000531783,p.S187A|NM_001261828,p.S187A|uc031qbd.1,p.S187A protein_coding, nonsense_mediated_decay uc031qbe.1 nonsynonymous SNV exon4 c.T508G p.S170A TIASFRSKCWTQSDEVLFFLPSDVT TIASFRSKCWTQADEVLFFLPSDVT 5.0 5.0 - - 4258_11:60173452-60173452 T>G_TIASFRSKCWTQADEVLFFLPSDVT 0.0 2:74460656-74460656 G>A 0.0 4155 MELANOMA 0.0027 - - - SLC4A5 uc002skp.1,p.P721L|NM_021196,p.P823L|ENST00000394019,p.P823L|uc010ffc.1,p.P823L|uc002skn.3,p.P823L|ENST00000358683,p.P721L|ENST00000346834,p.P823L|uc002sks.1,p.P785L|uc002sko.1,p.P823L|ENST00000423644,p.P823L|ENST00000425249,p.P785L|ENST00000359484,p.P721L|ENST00000357822,p.P823L|ENST00000377634,p.P823L|ENST00000377632,p.P823L|NM_133478,p.P823L retained_intron, protein_coding, processed_transcript uc010ffc.1 nonsynonymous SNV exon18 c.C2468T p.P823L KPTRPDRGWFVAPFGKNPWWVYPAS KPTRPDRGWFVALFGKNPWWVYPAS 5.0 2.0 - - 4155_2:74460656-74460656 G>A_KPTRPDRGWFVALFGKNPWWVYPAS 0.0 5:143853344-143853344 G>T 0.0 4284 COLORECTAL - - - - KCTD16 ENST00000507359,p.Q318H|NM_020768,p.Q318H|uc003lnm.1,p.Q318H|uc003lnn.1,p.Q318H|ENST00000512467,p.Q318H protein_coding uc003lnn.1 nonsynonymous SNV exon3 c.G954T p.Q318H SCNDLSTSSCDSQSEASSPQETVIC SCNDLSTSSCDSHSEASSPQETVIC 2.0 1.0 - - 4284_5:143853344-143853344 G>T_SCNDLSTSSCDSHSEASSPQETVIC 0.0 6:160218435-160218435 C>T 1.0 4240 BREAST - - - - MRPL18 NM_014161,p.T119I|uc003qsw.4,p.T119I|ENST00000367034,p.T119I protein_coding, processed_transcript uc003qsw.4 nonsynonymous SNV exon3 c.C356T p.T119I TREWAIKKHLYSTRNVVACESIGRV TREWAIKKHLYSIRNVVACESIGRV 10.0 7.0 - - 4240_6:160218435-160218435 C>T_TREWAIKKHLYSIRNVVACESIGRV 0.0 1:40097199-40097199 C>T 0.0 3903 MELANOMA - - - - HEYL uc001cdp.3,p.R67Q|ENST00000535435,p.R39Q|uc010oiw.2,p.R39Q|NM_014571,p.R67Q|ENST00000372852,p.R67Q protein_coding uc010oiw.2 nonsynonymous SNV exon3 c.G116A p.R39Q RRDRINSSLSELRRLVPTAFEKQGS RRDRINSSLSELQRLVPTAFEKQGS 7.0 3.0 - - 3903_1:40097199-40097199 C>T_RRDRINSSLSELQRLVPTAFEKQGS 0.0 2:29011586-29011586 G>T 1.0 4284 COLORECTAL - - - - PPP1CB ENST00000358506,p.D219Y|uc002rmh.3,p.D219Y|uc010yml.2,p.D191Y|NM_206876,p.D219Y|uc010ymj.2,p.D191Y|NM_002709,p.D219Y|ENST00000296122,p.D219Y|uc002rmg.3,p.D219Y|ENST00000395366,p.D219Y retained_intron, protein_coding, nonsense_mediated_decay uc010yml.2 nonsynonymous SNV exon6 c.G571T p.D191Y DPDKDVQGWGENDRGVSFTFGADVV DPDKDVQGWGENYRGVSFTFGADVV 10.0 3.0 - - 4284_2:29011586-29011586 G>T_DPDKDVQGWGENYRGVSFTFGADVV 0.0 16:57562989-57562989 G>T 1.0 4095 COLORECTAL - - - - CCDC102A uc002elw.3,p.P34H|NM_033212,p.P34H|ENST00000258214,p.P34H retained_intron, protein_coding uc002elw.3 nonsynonymous SNV exon2 c.C101A p.P34H TILGSPSPERMGPADSLPPTPPSGT TILGSPSPERMGHADSLPPTPPSGT 7.0 7.0 - - 4095_16:57562989-57562989 G>T_TILGSPSPERMGHADSLPPTPPSGT 0.0 X:120008797-120008823 TCCTCTGTGGCCTCCTCTGTGAGCTTC>- 0.0 4316 COLORECTAL - - ID=COSM111663;OCCURENCE=1(ovary),2(breast) - CT47B1 NM_001145718,p.234_243del|uc011muc.2,p.234_243del|ENST00000371311,p.234_243del protein_coding uc011muc.2 nonframeshift deletion exon1 c.702_728del p.234_243del AADEKPPEEAAEEKLTEEATEEPAA AADEKPPEEAAEEPAAEEPTSEEAV 1.0 10.0 - - 4316_X:120008797-120008823 TCCTCTGTGGCCTCCTCTGTGAGCTTC>-_AADEKPPEEAAEEPAAEEPTSEEAV 0.0 1:93159879-93159879 G>A 1.0 4071 COLORECTAL - - - - EVI5 uc010otf.2,p.L370F|uc001dox.3,p.L370F|ENST00000540033,p.L370F|ENST00000543509,p.L370F|ENST00000370331,p.L370F|NM_005665,p.L370F protein_coding, processed_transcript uc010otf.2 nonsynonymous SNV exon8 c.C1108T p.L370F ALLQMNQAELMQLDMEGMLQHFQKV ALLQMNQAELMQFDMEGMLQHFQKV 8.0 5.0 - - 4071_1:93159879-93159879 G>A_ALLQMNQAELMQFDMEGMLQHFQKV 0.0 3:169985714-169985714 C>A 1.0 4037 NSCLC - - - - PRKCI NM_002740,p.R126S|uc003fgs.2,p.R126S|ENST00000295797,p.R126S retained_intron, protein_coding uc003fgs.2 nonsynonymous SNV exon5 c.C376A p.R126S GMPCPGEDKSIYRRGARRWRKLYCA GMPCPGEDKSIYSRGARRWRKLYCA 9.0 8.0 - - 4037_3:169985714-169985714 C>A_GMPCPGEDKSIYSRGARRWRKLYCA 0.0 8:38677960-38677960 C>T 1.0 4326 BREAST - - - - TACC1 ENST00000443286,p.H416Y|ENST00000518415,p.H355Y|uc003xmb.4,p.H355Y|uc010lwq.3,p.H205Y|uc010lwp.3,p.H400Y|ENST00000520615,p.H205Y|uc011lcc.2,p.H205Y|ENST00000522904,p.H372Y|ENST00000519416,p.H205Y|NM_006283,p.H400Y|uc011lbz.2,p.H416Y|uc011lcb.2,p.H205Y|uc011lby.1,p.H205Y|uc003xmh.4,p.H205Y|uc003xlz.3,p.H205Y|ENST00000317827,p.H400Y|uc003xmc.4,p.H205Y|NM_001146216,p.H205Y|ENST00000520973,p.H205Y|ENST00000520340,p.H364Y|ENST00000379931,p.H400Y|uc011lca.2,p.H400Y retained_intron, protein_coding, processed_transcript uc011lcc.2 nonsynonymous SNV exon2 c.C613T p.H205Y QWESPSFNPFGSHSVLQNSPPLSSE QWESPSFNPFGSYSVLQNSPPLSSE 9.0 3.0 - - 4326_8:38677960-38677960 C>T_QWESPSFNPFGSYSVLQNSPPLSSE 0.0 21:37586812-37586812 C>T 1.0 3713 MELANOMA - - - - DOPEY2 uc002yvg.3,p.P363S|NM_005128,p.P363S|ENST00000399151,p.P363S|uc011aeb.2,p.P363S retained_intron, protein_coding, processed_transcript uc011aeb.2 nonsynonymous SNV exon8 c.C1087T p.P363S ADVEERHHAYLKPFRVLISLLDKPE ADVEERHHAYLKSFRVLISLLDKPE 4.0 8.0 - - 3713_21:37586812-37586812 C>T_ADVEERHHAYLKSFRVLISLLDKPE 0.0 8:72182030-72182030 G>T 0.0 4258 ENDOMETRIAL - - - - EYA1 uc003xyv.3,p.T210K|NM_172059,p.T327K|uc003xys.4,p.T332K|NM_172060,p.T299K|NM_172058,p.T332K|NM_000503,p.T332K|uc003xyt.4,p.T299K|uc003xyr.4,p.T327K|ENST00000388742,p.T332K|ENST00000388740,p.T299K|uc010lzf.3,p.T259K|ENST00000388741,p.T298K|ENST00000340726,p.T332K|uc003xyu.3,p.T332K|NM_001288575,p.T210K|ENST00000388743,p.T331K|ENST00000303824,p.T326K|ENST00000419131,p.T327K|uc011lfe.2,p.T326K|NM_001288574,p.T326K retained_intron, protein_coding, nonsense_mediated_decay uc011lfe.2 nonsynonymous SNV exon11 c.C977A p.T326K DLERVFIWDLDETIIVFHSLLTGSY DLERVFIWDLDEKIIVFHSLLTGSY 2.0 3.0 - - 4258_8:72182030-72182030 G>T_DLERVFIWDLDEKIIVFHSLLTGSY 0.0 7:45009658-45009658 T>C 0.0 4329 COLORECTAL - - - - MYO1G uc010kym.2,p.E323G|ENST00000258787,p.E438G|NM_033054,p.E438G|uc003tmh.2,p.E438G|uc003tmg.2,p.E200G|uc003tmi.1,p.E350G|uc003tmj.2,p.E200G retained_intron, protein_coding, nonsense_mediated_decay uc010kym.2 nonsynonymous SNV exon9 c.A968G p.E323G LILKQEQEEYEREGITWQSVEYFNN LILKQEQEEYERGGITWQSVEYFNN 5.0 4.0 - - 4329_7:45009658-45009658 T>C_LILKQEQEEYERGGITWQSVEYFNN 0.0 X:123699239-123699239 T>A 1.0 4196 COLORECTAL - - - - TENM1 uc004euj.3,p.D750V|NM_001163279,p.D749V|uc010nqy.3,p.D750V|ENST00000371130,p.D750V|ENST00000422452,p.D750V|NM_001163278,p.D750V|NM_014253,p.D750V|uc011muj.2,p.D749V protein_coding, processed_transcript uc011muj.2 nonsynonymous SNV exon12 c.A2246T p.D749V DGKCECSPGWEGDHCTIAHYLDAVR DGKCECSPGWEGVHCTIAHYLDAVR 4.0 10.0 - - 4196_X:123699239-123699239 T>A_DGKCECSPGWEGVHCTIAHYLDAVR 0.0 5:140750194-140750194 G>A 0.0 4077 BILE DUCT - - - - PCDHGB3 uc011dat.2,p.S78N|NM_032097,p.S78N|NM_018924,p.S78N|uc003ljw.2,p.S78N|ENST00000576222,p.S78N protein_coding uc011dat.2 nonsynonymous SNV exon1 c.G233A p.S78N LRVIAEKKFFTVSPENGNLLVSDRI LRVIAEKKFFTVNPENGNLLVSDRI 3.0 5.0 - - 4077_5:140750194-140750194 G>A_LRVIAEKKFFTVNPENGNLLVSDRI 0.0 11:26702641-26702641 G>A 0.0 4301 MELANOMA - - - - SLC5A12 NM_178498,p.S479L|ENST00000396005,p.S479L|uc001mra.2,p.S479L retained_intron, protein_coding, nonsense_mediated_decay uc001mra.2 nonsynonymous SNV exon12 c.C1436T p.S479L WPLPLSTDQCIKSNVTATGPPVLSS WPLPLSTDQCIKLNVTATGPPVLSS 2.0 7.0 - - 4301_11:26702641-26702641 G>A_WPLPLSTDQCIKLNVTATGPPVLSS 0.0 X:78619014-78619014 G>C 1.0 4234 NSCLC - - - - ITM2A ENST00000373298,p.S50C|uc004edh.3,p.S50C|NM_004867,p.S50C protein_coding, processed_transcript uc004edh.3 nonsynonymous SNV exon2 c.C149G p.S50C ELRVATQEKEGSSGRCMLTLLGLSF ELRVATQEKEGSCGRCMLTLLGLSF 8.0 2.0 - - 4234_X:78619014-78619014 G>C_ELRVATQEKEGSCGRCMLTLLGLSF 0.0 6:31749703-31749703 A>C 1.0 2556 MELANOMA - - - - VARS NM_006295,p.S756R|ENST00000375663,p.S756R|uc003nxe.3,p.S756R retained_intron, protein_coding, processed_transcript uc003nxe.3 nonsynonymous SNV exon19 c.T2268G p.S756R PPGEDPDGRYWVSGRNEAEAREKAA PPGEDPDGRYWVRGRNEAEAREKAA 10.0 3.0 - - 2556_6:31749703-31749703 A>C_PPGEDPDGRYWVRGRNEAEAREKAA 0.0 19:44130381-44130381 G>A 1.0 3713 MELANOMA - - - - CADM4 uc002oxc.1,p.R187C|ENST00000222374,p.R187C|NM_145296,p.R187C protein_coding, processed_transcript uc002oxc.1 nonsynonymous SNV exon5 c.C559T p.R187C GKVWSVASTVRFRVDRKDDGGIIIC GKVWSVASTVRFCVDRKDDGGIIIC 2.0 10.0 - - 3713_19:44130381-44130381 G>A_GKVWSVASTVRFCVDRKDDGGIIIC 0.0 2:137814206-137814206 A>T 0.0 4186 BREAST - - - - THSD7B uc002tva.1,p.Y88F|ENST00000413152,p.Y88F|ENST00000272643,p.Y119F|ENST00000409968,p.Y119F retained_intron, protein_coding, processed_transcript uc002tva.1 nonsynonymous SNV exon2 c.A263T p.Y88F EVSDWHHCVLVPYARGEVKPRTAEC EVSDWHHCVLVPFARGEVKPRTAEC 2.0 5.0 - - 4186_2:137814206-137814206 A>T_EVSDWHHCVLVPFARGEVKPRTAEC 0.0 2:162273046-162273046 C>G 0.0 4186 BREAST - - - - TBR1 ENST00000389554,p.T42S|uc002ubw.1,p.T42S|NM_006593,p.T42S retained_intron, protein_coding, processed_transcript uc002ubw.1 nonsynonymous SNV exon1 c.C125G p.T42S SELVLHDHPIISTTDNLERSSPLKK SELVLHDHPIISSTDNLERSSPLKK 1.0 6.0 - - 4186_2:162273046-162273046 C>G_SELVLHDHPIISSTDNLERSSPLKK 0.0 1:114354681-114354681 G>T 1.0 4258 ENDOMETRIAL - - - - RSBN1 NM_018364,p.S118R|ENST00000261441,p.S118R|uc001edq.3,p.S118R protein_coding, processed_transcript, nonsense_mediated_decay uc001edq.3 nonsynonymous SNV exon1 c.C354A p.S118R EPPLAPPHRRRRSRQHPGPLPPTNA EPPLAPPHRRRRRRQHPGPLPPTNA 7.0 6.0 - - 4258_1:114354681-114354681 G>T_EPPLAPPHRRRRRRQHPGPLPPTNA 0.0 6:33177533-33177533 C>T 1.0 3919 MELANOMA - - - - RING1 uc003odl.3,p.S41F|ENST00000374656,p.S70F|NM_002931,p.S70F|uc011dqx.1,p.S70F|uc003odk.3,p.S70F protein_coding, processed_transcript uc011dqx.1 nonsynonymous SNV exon3 c.C209T p.S70F TMTTKECLHRFCSDCIVTALRSGNK TMTTKECLHRFCFDCIVTALRSGNK 7.0 4.0 - - 3919_6:33177533-33177533 C>T_TMTTKECLHRFCFDCIVTALRSGNK 0.0 9:43625701-43625701 G>T 0.0 4259 COLORECTAL - - - - SPATA31A6 uc011lrb.2,p.P996T|ENST00000332857,p.P996T|NM_001145196,p.P996T protein_coding, processed_transcript uc011lrb.2 nonsynonymous SNV exon4 c.C2986A p.P996T SSLHPRVSVSQDPRKLCLMEEVVSE SSLHPRVSVSQDTRKLCLMEEVVSE 1.0 3.0 - - 4259_9:43625701-43625701 G>T_SSLHPRVSVSQDTRKLCLMEEVVSE 0.0 3:53856534-53856534 T>C 1.0 4346 COLORECTAL - - - - CHDH NM_018397,p.N280S|ENST00000315251,p.N280S|uc003dgz.3,p.N280S protein_coding uc003dgz.3 nonsynonymous SNV exon4 c.A839G p.N280S EGTRAVGVEYVKNGQSHRAYASKEV EGTRAVGVEYVKSGQSHRAYASKEV 6.0 8.0 CD8 - 4346_3:53856534-53856534 T>C_EGTRAVGVEYVKSGQSHRAYASKEV 1.0 6:47680331-47680331 G>A 1.0 4329 COLORECTAL 0.0005 - - - GPR115 uc003oyz.1,p.R237Q|uc003oza.1,p.R180Q|ENST00000327753,p.R180Q|NM_153838,p.R180Q|ENST00000371220,p.R237Q|uc003ozb.1,p.R180Q|ENST00000283303,p.R180Q protein_coding uc003ozb.1 nonsynonymous SNV exon5 c.G539A p.R180Q KNISTDLSDNVTREKMKSYSEVANH KNISTDLSDNVTQEKMKSYSEVANH 5.0 9.0 - - 4329_6:47680331-47680331 G>A_KNISTDLSDNVTQEKMKSYSEVANH 0.0 11:85447646-85447646 G>A 1.0 4000 MELANOMA - - - - SYTL2 uc010rtf.2,p.P19S|NM_032943,p.P161S|NM_001162951,p.P161S|ENST00000528231,p.P161S|uc001pbf.4,p.P161S|NM_001289608,p.P113S|ENST00000389960,p.P161S|uc010rti.2,p.P161S|ENST00000524452,p.P161S|uc010rth.2,p.P161S|ENST00000527523,p.P113S|uc010rtj.2,p.P113S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010rtj.2 nonsynonymous SNV exon5 c.C337T p.P113S RKPNVSPEKRKNPFNSSKLPEGHSS RKPNVSPEKRKNSFNSSKLPEGHSS 10.0 9.0 - - 4000_11:85447646-85447646 G>A_RKPNVSPEKRKNSFNSSKLPEGHSS 0.0 19:46032540-46032540 A>G 0.0 4110 BILE DUCT - - - - OPA3 uc002pcj.4,p.L106S|ENST00000323060,p.L106S|NM_001017989,p.L106S protein_coding uc002pcj.4 nonsynonymous SNV exon2 c.T317C p.L106S CSCLMLEYWRHQLQQRRKEKERRVA CSCLMLEYWRHQSQQRRKEKERRVA 6.0 7.0 - - 4110_19:46032540-46032540 A>G_CSCLMLEYWRHQSQQRRKEKERRVA 0.0 1:205034250-205034250 G>A 0.0 4213 COLORECTAL - - - - CNTN2 uc001hbs.3,p.D307N|ENST00000331830,p.D519N|uc001hbq.1,p.D410N|NM_005076,p.D519N|uc001hbr.3,p.D519N retained_intron, protein_coding uc001hbs.3 nonsynonymous SNV exon8 c.G919A p.D307N DATKITLAPSSADINLGDNLTLQCH DATKITLAPSSANINLGDNLTLQCH 2.0 5.0 - - 4213_1:205034250-205034250 G>A_DATKITLAPSSANINLGDNLTLQCH 0.0 2:71909728-71909728 G>A 1.0 4278 COLORECTAL - - ID=COSM1592373,COSM1022693;OCCURENCE=1(endometrium) - DYSF uc010fei.3,p.R2059H|uc010fek.3,p.R2060H|ENST00000429174,p.R2063H|ENST00000409366,p.R2064H|NM_001130982,p.R2074H|ENST00000410020,p.R2081H|NM_001130977,p.R2049H|ENST00000409744,p.R2050H|uc010fem.3,p.R2064H|NM_001130981,p.R2080H|ENST00000410041,p.R2060H|ENST00000394120,p.R2043H|ENST00000409651,p.R2074H|NM_001130984,p.R2050H|ENST00000409582,p.R2080H|ENST00000409762,p.R2059H|uc010yqy.2,p.R923H|ENST00000413539,p.R2073H|NM_001130455,p.R2043H|NM_001130980,p.R2059H|NM_001130978,p.R2063H|NM_001130986,p.R2029H|uc010yqz.2,p.R803H|uc002sie.3,p.R2042H|NM_001130987,p.R2081H|NM_001130983,p.R2064H|uc002sif.3,p.R2043H|uc010fef.3,p.R2080H|uc010feg.3,p.R2073H|NM_003494,p.R2042H|uc010feo.3,p.R2074H|uc010fen.3,p.R2081H|uc002sig.4,p.R2028H|uc010fej.3,p.R2050H|uc010fee.3,p.R2063H|NM_001130979,p.R2073H|NM_001130976,p.R2028H|ENST00000258104,p.R2042H|uc010fel.3,p.R2029H|NM_001130985,p.R2060H|uc010feh.3,p.R2049H protein_coding, processed_transcript uc010yqz.2 nonsynonymous SNV exon21 c.G2408A p.R803H SPYKTMKFILWRRFRWAIILFIILF SPYKTMKFILWRHFRWAIILFIILF 7.0 10.0 - - 4278_2:71909728-71909728 G>A_SPYKTMKFILWRHFRWAIILFIILF 0.0 11:67161010-67161010 C>T 1.0 4158 COLORECTAL - - - - RAD9A uc001okr.3,p.T93M|NM_004584,p.T93M|ENST00000542139,p.T93M|NM_001243224,p.T17M|ENST00000307980,p.T93M|uc021qmg.1,p.T17M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021qmg.1 nonsynonymous SNV exon1 c.C50T p.T17M LSVFRSLAMLEKTVEKCCISLNGRS LSVFRSLAMLEKMVEKCCISLNGRS 9.0 5.0 - - 4158_11:67161010-67161010 C>T_LSVFRSLAMLEKMVEKCCISLNGRS 0.0 2:80529464-80529464 G>C 0.0 4213 COLORECTAL - - - - LRRTM1 uc002sok.1,p.P494R|ENST00000433224,p.P494R|ENST00000295057,p.P494R|ENST00000409148,p.P494R|ENST00000417012,p.P494R|uc021vjt.1,p.P494R|NM_178839,p.P494R protein_coding, nonsense_mediated_decay uc021vjt.1 nonsynonymous SNV exon1 c.C1481G p.P494R AMSAQEYYVDYKPNHIEGALVIINE AMSAQEYYVDYKRNHIEGALVIINE 3.0 3.0 - - 4213_2:80529464-80529464 G>C_AMSAQEYYVDYKRNHIEGALVIINE 0.0 22:32179902-32179902 C>T 1.0 3879 MELANOMA - - ID=COSM1415903,COSM1415904;OCCURENCE=1(large_intestine) - DEPDC5 ENST00000400246,p.R165C|NM_014662,p.R165C|ENST00000266091,p.R165C|uc011alt.2,p.R137C|ENST00000400248,p.R165C|ENST00000382111,p.R165C|NM_001242896,p.R165C|uc003als.3,p.R165C|ENST00000535622,p.R165C|uc011als.2,p.R165C|ENST00000400249,p.R165C|ENST00000400242,p.R165C|ENST00000382105,p.R165C|NM_001007188,p.R165C|NM_001136029,p.R165C|ENST00000382112,p.R165C|uc003alt.3,p.R165C|uc003alr.2,p.R165C|NM_001242897,p.R165C|ENST00000536766,p.R137C|uc011alu.2,p.R165C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011alu.2 nonsynonymous SNV exon9 c.C493T p.R165C CGYISEDTRVVFRSTSAMVYIFIQM CGYISEDTRVVFCSTSAMVYIFIQM 8.0 5.0 - - 3879_22:32179902-32179902 C>T_CGYISEDTRVVFCSTSAMVYIFIQM 0.0 4:13583868-13583868 G>A 1.0 3466 MELANOMA - - - - BOD1L1 uc003gmz.1,p.S2862F|NM_148894,p.S2862F|ENST00000040738,p.S2862F retained_intron, protein_coding, nonsense_mediated_decay uc003gmz.1 nonsynonymous SNV exon19 c.C8585T p.S2862F EKPEQNDDDTIKSQEEDQPIIIKRK EKPEQNDDDTIKFQEEDQPIIIKRK 8.0 9.0 - - 3466_4:13583868-13583868 G>A_EKPEQNDDDTIKFQEEDQPIIIKRK 0.0 7:154862986-154862986 C>T 0.0 4329 COLORECTAL - - - - HTR5A uc003wlt.2,p.V10M|ENST00000543018,p.V10M|ENST00000395731,p.V10M|uc011kvt.1,p.V10M protein_coding, processed_transcript uc011kvt.1 nonsynonymous SNV exon1 c.G28A p.V10M MAVTFQMLAVQQSTSHAIQSWH MAVTFQMLAMQQSTSHAIQSWH 1.0 6.0 - - 4329_7:154862986-154862986 C>T_MAVTFQMLAMQQSTSHAIQSWH 0.0 4:144801564-144801564 C>A 0.0 4259 COLORECTAL - - - - GYPE ENST00000358615,p.G46W|uc003ijj.3,p.G46W|uc003ijk.4,p.G46W|NM_002102,p.G46W|NM_198682,p.G46W|ENST00000437468,p.G46W protein_coding, nonsense_mediated_decay uc003ijk.4 nonsynonymous SNV exon2 c.G136T p.G46W SVTKSYISSQTNGITLINWWAMARV SVTKSYISSQTNWITLINWWAMARV 2.0 2.0 - - 4259_4:144801564-144801564 C>A_SVTKSYISSQTNWITLINWWAMARV 0.0 X:69720382-69720382 T>G 1.0 4244 COLORECTAL - - - - DLG3 uc004dyj.2,p.L431R|NM_021120,p.L736R|ENST00000542398,p.L285R|NM_001166278,p.L285R|NM_020730,p.L431R|ENST00000194900,p.L768R|uc004dyi.2,p.L736R|uc011mpn.2,p.L285R|ENST00000374360,p.L736R|ENST00000374355,p.L431R retained_intron, protein_coding, processed_transcript uc011mpn.2 nonsynonymous SNV exon10 c.T854G p.L285R SGNAIKRLQQAQLYPIAIFIKPKSI SGNAIKRLQQAQRYPIAIFIKPKSI 9.0 6.0 CD8 - 4244_X:69720382-69720382 T>G_SGNAIKRLQQAQRYPIAIFIKPKSI 1.0 20:55758957-55758957 T>G 1.0 4252 COLORECTAL - - - - BMP7 uc010gip.1,p.K260T|NM_001719,p.K260T|uc002xyc.3,p.K260T|ENST00000395863,p.K260T|ENST00000450594,p.K260T retained_intron, protein_coding, processed_transcript uc010gip.1 nonsynonymous SNV exon4 c.A779C p.K260T SVETLDGQSINPKLAGLIGRHGPQN SVETLDGQSINPTLAGLIGRHGPQN 7.0 6.0 - - 4252_20:55758957-55758957 T>G_SVETLDGQSINPTLAGLIGRHGPQN 0.0 11:48238657-48238657 T>C 0.0 4196 COLORECTAL - - - - OR4B1 NM_001005470,p.I99T|ENST00000309562,p.I99T|uc010rhs.2,p.I99T protein_coding uc010rhs.2 nonsynonymous SNV exon1 c.T296C p.I99T IKTISLEGCLTQIFFFHFFGVAEIL IKTISLEGCLTQTFFFHFFGVAEIL 3.0 9.0 - - 4196_11:48238657-48238657 T>C_IKTISLEGCLTQTFFFHFFGVAEIL 0.0 8:28991588-28991588 G>A 1.0 3713 MELANOMA - - - - KIF13B uc003xhh.4,p.P918L|ENST00000524189,p.P918L|NM_015254,p.P918L retained_intron, protein_coding, nonsense_mediated_decay uc003xhh.4 nonsynonymous SNV exon22 c.C2753T p.P918L EVDTSSSSVSKEPHCMVVFDHCNEF EVDTSSSSVSKELHCMVVFDHCNEF 5.0 9.0 - - 3713_8:28991588-28991588 G>A_EVDTSSSSVSKELHCMVVFDHCNEF 0.0 2:152496564-152496564 T>G 0.0 4335 COLORECTAL - - - - NEB uc002txu.3,p.K2899T|uc031rpp.1,p.K2899T|ENST00000397345,p.K2899T|NM_001271208,p.K2899T|ENST00000427231,p.K2899T|ENST00000409198,p.K2899T|ENST00000604864,p.K2899T|NM_004543,p.K2899T|ENST00000603639,p.K2899T|NM_001164507,p.K2899T|uc021vrc.1,p.K2899T|NM_001164508,p.K2899T|ENST00000172853,p.K2899T|uc010fnx.3,p.K2899T|uc021vrd.1,p.K2899T|uc021vrb.1,p.K2899T retained_intron, protein_coding, processed_transcript uc031rpp.1 nonsynonymous SNV exon62 c.A8696C p.K2899T RQAYDLQSDNMYKSDLQWMRGIGWV RQAYDLQSDNMYTSDLQWMRGIGWV 5.0 7.0 - - 4335_2:152496564-152496564 T>G_RQAYDLQSDNMYTSDLQWMRGIGWV 0.0 8:73848852-73848852 C>A 0.0 4158 COLORECTAL - - - - KCNB2 NM_004770,p.S421Y|uc003xzb.3,p.S421Y|ENST00000523207,p.S421Y protein_coding uc003xzb.3 nonsynonymous SNV exon3 c.C1262A p.S421Y IALPIPIIVNNFSEFYKEQKRQEKA IALPIPIIVNNFYEFYKEQKRQEKA 6.0 10.0 - - 4158_8:73848852-73848852 C>A_IALPIPIIVNNFYEFYKEQKRQEKA 0.0 X:118222310-118222310 T>G 0.0 4186 BREAST - - - - KIAA1210 uc004era.4,p.Q961H|NM_020721,p.Q961H|ENST00000402510,p.Q961H protein_coding uc004era.4 nonsynonymous SNV exon11 c.A2883C p.Q961H HPFQPWVNPKVEQEVSSSPKSMAVE HPFQPWVNPKVEHEVSSSPKSMAVE 1.0 10.0 - - 4186_X:118222310-118222310 T>G_HPFQPWVNPKVEHEVSSSPKSMAVE 0.0 12:53096725-53096725 C>T 0.0 4235 COLORECTAL - - - - KRT77 uc001saw.3,p.R165Q|ENST00000553168,p.R165Q|ENST00000341809,p.R165Q|NM_175078,p.R165Q retained_intron, protein_coding, nonsense_mediated_decay uc001saw.3 nonsynonymous SNV exon1 c.G494A p.R165Q VDPEIQRIKTQEREQIMVLNNKFAS VDPEIQRIKTQEQEQIMVLNNKFAS 1.0 6.0 - - 4235_12:53096725-53096725 C>T_VDPEIQRIKTQEQEQIMVLNNKFAS 0.0 17:909378-909378 G>A 1.0 4158 COLORECTAL - - - - ABR ENST00000291107,p.P804L|NM_001092,p.P804L|NM_001256847,p.P292L|NM_021962,p.P841L|ENST00000543210,p.P292L|uc002fsd.4,p.P841L|uc010vqg.3,p.P623L|NM_001159746,p.P795L|uc002fse.4,p.P795L|uc010vqf.3,p.P292L|NM_001282149,p.P623L|ENST00000574437,p.P795L|ENST00000536794,p.P623L|uc002fsf.4,p.P378L|ENST00000544583,p.P795L|uc002fsg.4,p.P804L|ENST00000302538,p.P841L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, ambiguous_orf uc010vqg.3 nonsynonymous SNV exon18 c.C1868T p.P623L AQVQVLLYYLQHPPISFAELKRNTL AQVQVLLYYLQHLPISFAELKRNTL 9.0 10.0 - - 4158_17:909378-909378 G>A_AQVQVLLYYLQHLPISFAELKRNTL 0.0 2:204074016-204074016 T>C 1.0 4326 BREAST - - - - NBEAL1 ENST00000414576,p.S572P|NM_001114132,p.S2557P|ENST00000449802,p.S2557P|uc002uzu.3,p.S52P|uc021vvj.1,p.S1191P|uc002uzt.3,p.S2557P retained_intron, protein_coding, processed_transcript uc021vvj.1 nonsynonymous SNV exon24 c.T3571C p.S1191P LAISWEGHIVVYSSTEEKTTLKDKN LAISWEGHIVVYPSTEEKTTLKDKN 8.0 10.0 - - 4326_2:204074016-204074016 T>C_LAISWEGHIVVYPSTEEKTTLKDKN 0.0 9:98997810-98997810 C>T 1.0 4266 COLORECTAL 0.12 rs2066479 ID=COSM3764082;OCCURENCE=1(large_intestine) - HSD17B3 ENST00000375262,p.G239S|uc004awa.1,p.G289S|ENST00000375263,p.G289S|NM_000197,p.G289S|uc010msc.1,p.G239S protein_coding, processed_transcript uc010msc.1 nonsynonymous SNV exon10 c.G715A p.G239S FLSLIPAWAFYSGAFQRLLLTHYVA FLSLIPAWAFYSSAFQRLLLTHYVA 4.0 7.0 - - 4266_9:98997810-98997810 C>T_FLSLIPAWAFYSSAFQRLLLTHYVA 0.0 16:67680638-67680638 A>T 0.0 4335 COLORECTAL - - - - RLTPR NM_001013838,p.E163V|uc010vjr.2,p.E163V|uc002etn.3,p.E163V|ENST00000545661,p.E163V|uc010cel.1,p.E163V|ENST00000334583,p.E163V protein_coding uc010vjr.2 nonsynonymous SNV exon7 c.A488T p.E163V PCSPCGGFLETYEALCDYNGFPFRE PCSPCGGFLETYVALCDYNGFPFRE 5.0 3.0 - - 4335_16:67680638-67680638 A>T_PCSPCGGFLETYVALCDYNGFPFRE 0.0 11:123814011-123814011 G>A 0.0 4298 COLORECTAL - - ID=COSM268142;OCCURENCE=1(large_intestine) - OR6T1 NM_001005187,p.R179C|ENST00000321252,p.R179C|uc010sab.2,p.R179C protein_coding uc010sab.2 nonsynonymous SNV exon1 c.C535T p.R179C PFCGPNGIDHFFRDSWPLLRLSCGD PFCGPNGIDHFFCDSWPLLRLSCGD 1.0 8.0 - - 4298_11:123814011-123814011 G>A_PFCGPNGIDHFFCDSWPLLRLSCGD 0.0 7:147815357-147815357 A>G 0.0 4177 PANCREATIC - - - 2 CNTNAP2 NM_014141,p.D844G|ENST00000361727,p.D844G|uc003weu.2,p.D844G protein_coding, processed_transcript uc003weu.2 nonsynonymous SNV exon16 c.A2531G p.D844G PWGVFLENMGKEDFIKLELKSATEV PWGVFLENMGKEGFIKLELKSATEV 2.0 6.0 - - 4177_7:147815357-147815357 A>G_PWGVFLENMGKEGFIKLELKSATEV 0.0 4:79345550-79345550 G>A 1.0 3678 MELANOMA - - - - FRAS1 NM_001166133,p.E1563K|ENST00000325942,p.E1563K|uc003hlb.2,p.E1563K|ENST00000264895,p.E1563K|NM_025074,p.E1563K|uc003hkw.3,p.E1563K retained_intron, protein_coding, nonsense_mediated_decay uc003hlb.2 nonsynonymous SNV exon35 c.G4687A p.E1563K QELMAFSFAGLPESVKFHFTVSDGE QELMAFSFAGLPKSVKFHFTVSDGE 6.0 2.0 - - 3678_4:79345550-79345550 G>A_QELMAFSFAGLPKSVKFHFTVSDGE 0.0 2:101706776-101706776 C>T 1.0 4320 COLORECTAL - - ID=COSM1398437,COSM1398438;OCCURENCE=1(large_intestine) - TBC1D8 uc010fiv.3,p.A60T|NM_001102426,p.A60T|ENST00000409318,p.A60T|uc010yvw.2,p.A60T|ENST00000376840,p.A60T retained_intron, protein_coding, processed_transcript uc010yvw.2 nonsynonymous SNV exon2 c.G178A p.A60T ALDAVLDSNARVAPFRILLQVPGSQ ALDAVLDSNARVTPFRILLQVPGSQ 7.0 9.0 CD8 - 4320_2:101706776-101706776 C>T_ALDAVLDSNARVTPFRILLQVPGSQ 1.0 4:121958399-121958399 G>T 0.0 3775 CERVICAL - - - - NDNF uc003idq.1,p.P243T|ENST00000379692,p.P243T|NM_024574,p.P243T protein_coding, processed_transcript uc003idq.1 nonsynonymous SNV exon4 c.C727A p.P243T LSADDAFMMAPKPGLDFSPFDFAHF LSADDAFMMAPKTGLDFSPFDFAHF 3.0 9.0 - - 3775_4:121958399-121958399 G>T_LSADDAFMMAPKTGLDFSPFDFAHF 0.0 1:227081795-227081795 C>T 1.0 3466 MELANOMA - - - - PSEN2 NM_000447,p.T387I|ENST00000472139,p.T243I|uc009xep.1,p.T386I|ENST00000391872,p.T420I|ENST00000340188,p.T354I|ENST00000366782,p.T420I|NM_012486,p.T386I|ENST00000422240,p.T386I|uc009xeo.1,p.T387I|ENST00000366783,p.T387I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009xep.1 nonsynonymous SNV exon12 c.C1157T p.T386I GKAAATGSGDWNTTLACFVAILIGL GKAAATGSGDWNITLACFVAILIGL 7.0 1.0 - - 3466_1:227081795-227081795 C>T_GKAAATGSGDWNITLACFVAILIGL 0.0 11:58338132-58338132 G>A 1.0 3879 MELANOMA - - - - LPXN uc010rkk.2,p.P19S|ENST00000528489,p.P19S retained_intron, protein_coding, nonsense_mediated_decay uc010rkk.2 nonsynonymous SNV exon2 c.C55T p.P19S WNAPPFRTVMNIPTQLLFPWISIPE WNAPPFRTVMNISTQLLFPWISIPE 3.0 10.0 - - 3879_11:58338132-58338132 G>A_WNAPPFRTVMNISTQLLFPWISIPE 0.0 3:129150388-129150388 G>A 0.0 3466 MELANOMA - - - - MBD4 NM_001276273,p.H249Y|uc003emk.2,p.H249Y|NM_001276270,p.H561Y|ENST00000429544,p.H561Y|uc003emh.2,p.H567Y|NM_003925,p.H567Y|ENST00000249910,p.H567Y|ENST00000393278,p.H249Y|uc003emj.2,p.H561Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003emk.2 nonsynonymous SNV exon7 c.C745T p.H249Y QVHPEDHKLNKYHDWLWENHEKLSL QVHPEDHKLNKYYDWLWENHEKLSL 8.0 6.0 - - 3466_3:129150388-129150388 G>A_QVHPEDHKLNKYYDWLWENHEKLSL 0.0 8:69058492-69058492 T>G 0.0 4278 COLORECTAL - - - 1 PREX2 NM_024870,p.V1379G|uc003xxv.1,p.V1379G|ENST00000288368,p.V1379G protein_coding, processed_transcript uc003xxv.1 nonsynonymous SNV exon34 c.T4136G p.V1379G TYQAEGSRQALKVYFYIDSYHFEQL TYQAEGSRQALKGYFYIDSYHFEQL 6.0 1.0 - - 4278_8:69058492-69058492 T>G_TYQAEGSRQALKGYFYIDSYHFEQL 0.0 5:40958300-40958300 C>T 0.0 3795 MELANOMA - - - - C7 NM_000587,p.H476Y|ENST00000313164,p.H476Y|uc003jmh.3,p.H476Y retained_intron, protein_coding, processed_transcript uc003jmh.3 nonsynonymous SNV exon11 c.C1426T p.H476Y GLATVEGTHCLCHCKPYTFGAACEQ GLATVEGTHCLCYCKPYTFGAACEQ 4.0 10.0 - - 3795_5:40958300-40958300 C>T_GLATVEGTHCLCYCKPYTFGAACEQ 0.0 13:23903559-23903559 A>C 0.0 4345 COLORECTAL - - - - SACS uc001uop.1,p.C537W|ENST00000423156,p.C374W|uc001uoq.1,p.C685W protein_coding, processed_transcript uc001uoq.1 nonsynonymous SNV exon7 c.T2055G p.C685W GKLKMVAVLITSC GKLKMVAVLITSW 4.0 2.0 - - 4345_13:23903559-23903559 A>C_GKLKMVAVLITSW 0.0 10:50339739-50339739 C>A 0.0 4287 COLORECTAL - - - - FAM170B NM_001164484,p.E257D|ENST00000311787,p.E257D|uc001jhj.3,p.E257D protein_coding uc001jhj.3 nonsynonymous SNV exon2 c.G771T p.E257D RAQGQAHDQQLEEEQSPSDNSECSR RAQGQAHDQQLEDEQSPSDNSECSR 1.0 8.0 - - 4287_10:50339739-50339739 C>A_RAQGQAHDQQLEDEQSPSDNSECSR 0.0 2:189957098-189957098 G>C 0.0 4234 NSCLC - - - - COL5A2 ENST00000374866,p.Q169E|uc002uqk.3,p.Q169E|NM_000393,p.Q169E retained_intron, protein_coding uc002uqk.3 nonsynonymous SNV exon7 c.C505G p.Q169E PQGIDGEPGVPGQPGAPGPPGHPSH PQGIDGEPGVPGEPGAPGPPGHPSH 9.0 4.0 - - 4234_2:189957098-189957098 G>C_PQGIDGEPGVPGEPGAPGPPGHPSH 0.0 12:111701572-111701572 C>A 0.0 4326 BREAST - - - - CUX2 ENST00000261726,p.A77D|uc001tsb.2,p.A132D|uc001tsa.2,p.A77D|NM_015267,p.A77D|ENST00000397643,p.A137D protein_coding, processed_transcript uc001tsb.2 nonsynonymous SNV exon5 c.C395A p.A132D APVLKSFQAEVVALSKRSQEAEAAF APVLKSFQAEVVDLSKRSQEAEAAF 4.0 8.0 - - 4326_12:111701572-111701572 C>A_APVLKSFQAEVVDLSKRSQEAEAAF 0.0 9:130566936-130566936 G>A 1.0 3713 MELANOMA - - - - FPGS uc011mal.1,p.E115K|ENST00000373245,p.E115K|NM_001288803,p.E115K|uc004bsi.1,p.E65K|NM_004957,p.E115K|ENST00000373247,p.E115K|NM_001018078,p.E65K|ENST00000431857,p.E65K|ENST00000423577,p.E65K|ENST00000373228,p.E115K|uc004bsg.1,p.E115K|ENST00000393706,p.E115K|ENST00000373225,p.E65K protein_coding, processed_transcript uc011mal.1 nonsynonymous SNV exon4 c.G343A p.E115K GTKGKGSTCAFTECILRSYGLKTGF GTKGKGSTCAFTKCILRSYGLKTGF 6.0 10.0 - - 3713_9:130566936-130566936 G>A_GTKGKGSTCAFTKCILRSYGLKTGF 0.0 1:115256529-115256529 T>C 1.0 4189 MELANOMA - - ID=COSM584;OCCURENCE=4(soft_tissue),3(ovary),4(endometrium),474(skin),7(breast),1(small_intestine),7(urinary_tract),7(adrenal_gland),1(liver),4(eye),2(pancreas),4(biliary_tract),49(large_intestine),5(central_nervous_system),49(NS),289(thyroid),12(lung),9(meninges),3(testis),69(haematopoietic_and_lymphoid_tissue) 1 NRAS uc009wgu.3,p.Q61R|ENST00000369535,p.Q61R|NM_002524,p.Q61R protein_coding uc009wgu.3 nonsynonymous SNV exon3 c.A182G p.Q61R ETCLLDILDTAGQEEYSAMRDQYMR ETCLLDILDTAGREEYSAMRDQYMR 6.0 10.0 - - 4189_1:115256529-115256529 T>C_ETCLLDILDTAGREEYSAMRDQYMR 0.0 17:42512485-42512485 C>T 0.0 4081 COLORECTAL - - - - GPATCH8 ENST00000585614,p.R74H|ENST00000434000,p.R21H|uc010wiz.2,p.R21H|uc002igv.2,p.R21H|NM_001002909,p.R99H|ENST00000591680,p.R99H|uc002igw.2,p.R99H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wiz.2 nonsynonymous SNV exon6 c.G62A p.R21H ELDYAEDATERRRVLEVEKEDTEEL ELDYAEDATERRHVLEVEKEDTEEL 8.0 9.0 - - 4081_17:42512485-42512485 C>T_ELDYAEDATERRHVLEVEKEDTEEL 0.0 9:139685838-139685838 C>A 1.0 4316 COLORECTAL - - - - TMEM141 uc004cje.4,p.L6M|uc011meg.1,p.L6M|ENST00000290079,p.L6M|NM_032928,p.L6M retained_intron, protein_coding, processed_transcript uc011meg.1 nonsynonymous SNV exon1 c.C16A p.L6M MVNLGLSRVDDAVAAKHP MVNLGMSRVDDAVAAKHP 10.0 1.0 - - 4316_9:139685838-139685838 C>A_MVNLGMSRVDDAVAAKHP 0.0 2:209113113-209113113 G>A 1.0 4134 NSCLC - - ID=COSM28747;OCCURENCE=212(haematopoietic_and_lymphoid_tissue),3(NS),184(bone),106(central_nervous_system),1(prostate),3(large_intestine),33(biliary_tract),3(liver),6(skin),1(breast),11(soft_tissue),1(autonomic_ganglia) 1 IDH1 ENST00000345146,p.R132C|NM_001282386,p.R132C|NM_005896,p.R132C|ENST00000446179,p.R132C|ENST00000415913,p.R132C|uc002vcu.3,p.R132C|ENST00000415282,p.R132C|uc002vcs.3,p.R132C|uc002vct.3,p.R132C|NM_001282387,p.R132C retained_intron, protein_coding uc002vcu.3 nonsynonymous SNV exon4 c.C394T p.R132C LVSGWVKPIIIGRHAYGDQYRATDF LVSGWVKPIIIGCHAYGDQYRATDF 9.0 5.0 - - 4134_2:209113113-209113113 G>A_LVSGWVKPIIIGCHAYGDQYRATDF 0.0 7:142562315-142562315 G>T 0.0 4196 COLORECTAL - - - - EPHB6 uc011ksu.2,p.A253S|ENST00000392957,p.A253S|ENST00000442129,p.A253S|uc011kst.2,p.A253S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011ksu.2 nonsynonymous SNV exon7 c.G757T p.A253S SFPETQASGAGGASLVAAVGTCVAH SFPETQASGAGGSSLVAAVGTCVAH 6.0 8.0 - - 4196_7:142562315-142562315 G>T_SFPETQASGAGGSSLVAAVGTCVAH 0.0 X:111698812-111698812 T>A 0.0 4258 ENDOMETRIAL - - - - ZCCHC16 ENST00000340433,p.S286T|NM_001004308,p.S286T|uc022cct.1,p.S286T|uc004epo.1,p.S286T protein_coding uc022cct.1 nonsynonymous SNV exon1 c.T856A p.S286T QQETQLCLYCSQSGHFTRDCLAKRS QQETQLCLYCSQTGHFTRDCLAKRS 1.0 10.0 - - 4258_X:111698812-111698812 T>A_QQETQLCLYCSQTGHFTRDCLAKRS 0.0 16:1550629-1550629 C>T 0.0 4278 COLORECTAL - - - - TELO2 ENST00000497339,p.R404C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000497339 nonsynonymous SNV exon9 c.C1210T p.R404C KCRLDSSLPPVRRLGMIVQIQLRGR KCRLDSSLPPVRCLGMIVQIQLRGR 7.0 8.0 - - 4278_16:1550629-1550629 C>T_KCRLDSSLPPVRCLGMIVQIQLRGR 0.0 16:58617084-58617084 A>G 1.0 3466 MELANOMA - - - - CNOT1 uc002enx.4,p.I270T|NM_206999,p.I270T|NM_001265612,p.I270T|ENST00000567188,p.I270T|ENST00000317147,p.I270T|ENST00000441024,p.I270T|ENST00000569240,p.I270T|NM_016284,p.I270T|uc002env.4,p.I270T|uc002enu.5,p.I270T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002enx.4 nonsynonymous SNV exon9 c.T809C p.I270T FMQEVGYGFCASIEECRNIIVQFGV FMQEVGYGFCASTEECRNIIVQFGV 10.0 2.0 - - 3466_16:58617084-58617084 A>G_FMQEVGYGFCASTEECRNIIVQFGV 0.0 18:7080286-7080286 C>T 0.0 3903 MELANOMA - - - - LAMA1 NM_005559,p.E78K|ENST00000389658,p.E78K|uc002knm.3,p.E78K retained_intron, protein_coding uc002knm.3 nonsynonymous SNV exon2 c.G232A p.E78K CRICDGNSANPRERHPISHAIDGTN CRICDGNSANPRKRHPISHAIDGTN 7.0 10.0 - - 3903_18:7080286-7080286 C>T_CRICDGNSANPRKRHPISHAIDGTN 0.0 8:102631887-102631887 C>T 0.0 3903 MELANOMA - - - - GRHL2 ENST00000395927,p.H391Y|ENST00000251808,p.H407Y|NM_024915,p.H407Y|uc010mbu.3,p.H407Y retained_intron, protein_coding, processed_transcript uc010mbu.3 nonsynonymous SNV exon9 c.C1219T p.H407Y TYSYNNRSNKPIHRAYCQIKVFCDK TYSYNNRSNKPIYRAYCQIKVFCDK 1.0 5.0 - - 3903_8:102631887-102631887 C>T_TYSYNNRSNKPIYRAYCQIKVFCDK 0.0 8:24771520-24771520 G>A 0.0 4326 BREAST - - - - NEFM uc011lac.1,p.E72K|uc003xed.4,p.E72K|ENST00000437366,p.E72K|ENST00000221166,p.E72K|ENST00000518131,p.E72K|NM_005382,p.E72K protein_coding, processed_transcript uc011lac.1 nonsynonymous SNV exon1 c.G214A p.E72K RLAYSSAMLSSAESSLDFSQSSSLL RLAYSSAMLSSAKSSLDFSQSSSLL 3.0 4.0 - - 4326_8:24771520-24771520 G>A_RLAYSSAMLSSAKSSLDFSQSSSLL 0.0 1:33402619-33402619 T>C 1.0 4180 BREAST - - - - RNF19B NM_001300826,p.I662V|ENST00000373456,p.I663V|uc010ohp.2,p.I662V|uc010oho.2,p.I663V|NM_153341,p.I663V|ENST00000235150,p.I662V protein_coding uc010ohp.2 nonsynonymous SNV exon9 c.A1984G p.I662V KPWDISLAQPESIRSDLESSDAQSD KPWDISLAQPESVRSDLESSDAQSD 10.0 9.0 - - 4180_1:33402619-33402619 T>C_KPWDISLAQPESVRSDLESSDAQSD 0.0 15:56739085-56739085 C>T 0.0 4160 COLORECTAL - - - - MNS1 ENST00000260453,p.R137K|NM_018365,p.R137K|uc002adr.2,p.R137K retained_intron, protein_coding, processed_transcript uc002adr.2 nonsynonymous SNV exon4 c.G410A p.R137K EKKLKAAYMNKERAAQIAEKDAIKY EKKLKAAYMNKEKAAQIAEKDAIKY 3.0 6.0 - - 4160_15:56739085-56739085 C>T_EKKLKAAYMNKEKAAQIAEKDAIKY 0.0 5:41186207-41186207 G>A 0.0 4298 COLORECTAL - - - - C6 ENST00000263413,p.R231C|NM_001115131,p.R231C|uc003jml.2,p.R231C|uc003jmk.3,p.R231C|ENST00000337836,p.R231C|NM_000065,p.R231C retained_intron, protein_coding, processed_transcript uc003jml.2 nonsynonymous SNV exon6 c.C691T p.R231C KTVKSSRTSNPYRVPANLENVGFEV KTVKSSRTSNPYCVPANLENVGFEV 3.0 6.0 - - 4298_5:41186207-41186207 G>A_KTVKSSRTSNPYCVPANLENVGFEV 0.0 15:48762851-48762851 C>A 0.0 4275 COLORECTAL - - - - FBN1 ENST00000316623,p.R1480I|NM_000138,p.R1480I|uc001zwx.2,p.R1480I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001zwx.2 nonsynonymous SNV exon36 c.G4439T p.R1480I FRCECEIGYELDRSGGNCTDVNECL FRCECEIGYELDISGGNCTDVNECL 8.0 9.0 - - 4275_15:48762851-48762851 C>A_FRCECEIGYELDISGGNCTDVNECL 0.0 13:61102975-61102975 A>G 1.0 4252 COLORECTAL - - - - TDRD3 NM_030794,p.Q446R|ENST00000377881,p.Q446R|uc001via.3,p.Q446R|ENST00000377894,p.Q446R|NM_001146070,p.Q539R|NM_001146071,p.Q446R|uc001vib.4,p.Q445R|uc010aef.2,p.Q271R|uc010aeg.3,p.Q539R|uc001vhz.4,p.Q446R|ENST00000196169,p.Q446R|ENST00000535286,p.Q539R protein_coding, processed_transcript, nonsense_mediated_decay uc010aeg.3 nonsynonymous SNV exon11 c.A1616G p.Q539R DYNNQKRGKRESQTSIPDYFYDRKS DYNNQKRGKRESRTSIPDYFYDRKS 8.0 7.0 - - 4252_13:61102975-61102975 A>G_DYNNQKRGKRESRTSIPDYFYDRKS 0.0 8:113516066-113516066 C>T 0.0 4301 MELANOMA - - - 2 CSMD3 ENST00000455883,p.R1575Q|ENST00000339701,p.R1019Q|NM_198123,p.R1679Q|NM_198124,p.R1639Q|uc011lhx.2,p.R1575Q|uc003ynu.3,p.R1679Q|ENST00000343508,p.R1639Q|NM_052900,p.R1575Q|ENST00000297405,p.R1679Q|uc003ynt.3,p.R1639Q|ENST00000352409,p.R1679Q|uc003yns.3,p.R951Q retained_intron, protein_coding, processed_transcript uc011lhx.2 nonsynonymous SNV exon29 c.G4724A p.R1575Q IESSSNTMHLAFRSDGSVSYTGFHL IESSSNTMHLAFQSDGSVSYTGFHL 1.0 7.0 - - 4301_8:113516066-113516066 C>T_IESSSNTMHLAFQSDGSVSYTGFHL 0.0 14:53513647-53513647 C>G 1.0 4244 COLORECTAL - - - - DDHD1 ENST00000323669,p.D848H|uc001xai.3,p.D848H|NM_001160148,p.D848H retained_intron, protein_coding, processed_transcript uc001xai.3 nonsynonymous SNV exon13 c.G2542C p.D848H KDNALVELDHRIDFELREGLVESRY KDNALVELDHRIHFELREGLVESRY 6.0 1.0 - - 4244_14:53513647-53513647 C>G_KDNALVELDHRIHFELREGLVESRY 0.0 8:57354324-57354324 A>C 0.0 4326 BREAST - - - - PENK ENST00000314922,p.M104R|ENST00000451791,p.M104R|uc003xsz.2,p.M104R|NM_001135690,p.M104R|NM_006211,p.M104R|uc003xta.3,p.M104R retained_intron, protein_coding, processed_transcript uc003xta.3 nonsynonymous SNV exon4 c.T311G p.M104R ESHLLAKRYGGFMKRYGGFMKKMDE ESHLLAKRYGGFRKRYGGFMKKMDE 3.0 5.0 - - 4326_8:57354324-57354324 A>C_ESHLLAKRYGGFRKRYGGFMKKMDE 0.0 8:24256411-24256411 G>T 0.0 4234 NSCLC - - - - ADAMDEC1 uc011lab.1,p.V184L|ENST00000538205,p.V184L|uc003xdz.2,p.V263L|ENST00000256412,p.V263L|uc010lub.2,p.V184L|ENST00000522298,p.V184L|NM_014479,p.V263L|NM_001145272,p.V184L|NM_001145271,p.V184L protein_coding, processed_transcript, nonsense_mediated_decay uc011lab.1 nonsynonymous SNV exon8 c.G550T p.V184L LLNVIYNTIDVQVALVGMEIWSDGD LLNVIYNTIDVQLALVGMEIWSDGD 8.0 6.0 - - 4234_8:24256411-24256411 G>T_LLNVIYNTIDVQLALVGMEIWSDGD 0.0 4:128814500-128814501 AC>- 1.0 4281 COLORECTAL - - - - PLK4 uc011cgt.2,p.Y709fs|ENST00000270861,p.Y750fs|uc011cgs.2,p.Y718fs|NM_001190799,p.Y718fs|ENST00000507249,p.Y689fs|NM_001190801,p.Y709fs|ENST00000514379,p.Y709fs|NM_014264,p.Y750fs|uc003ifo.3,p.Y750fs|ENST00000515069,p.Y672fs|ENST00000513090,p.Y718fs retained_intron, protein_coding, processed_transcript uc011cgt.2 frameshift deletion exon11 c.2126_2127del p.Y709fs DFIQVIEKTGKSYTLKSESEVNSLK DFIQVIEKTGKSYFKK 7.0 5.0 - - 4281_4:128814500-128814501 AC>-_DFIQVIEKTGKSYFKK 0.0 17:8006786-8006786 T>A 1.0 4284 COLORECTAL - - - - ALOXE3 ENST00000318227,p.N736I|ENST00000448843,p.N604I|NM_021628,p.N604I|uc002gka.3,p.N760I|NM_001165960,p.N736I|uc010vuo.2,p.N736I|ENST00000380149,p.N760I|uc010cnr.3,p.N604I retained_intron, protein_coding uc010vuo.2 nonsynonymous SNV exon15 c.A2207T p.N736I NSGQHDFGAWMPNAPSSMRQPPPQT NSGQHDFGAWMPIAPSSMRQPPPQT 3.0 10.0 - - 4284_17:8006786-8006786 T>A_NSGQHDFGAWMPIAPSSMRQPPPQT 0.0 14:70634634-70634634 G>A 0.0 4301 MELANOMA - - - - SLC8A3 ENST00000357887,p.T169I|NM_183002,p.T169I|NM_182932,p.T169I|ENST00000356921,p.T169I|ENST00000381269,p.T169I|ENST00000528359,p.T169I|uc001xlw.3,p.T169I|NM_033262,p.T169I|uc001xlx.3,p.T169I|ENST00000534137,p.T169I|uc001xlz.3,p.T169I|NM_058240,p.T169I|uc001xly.3,p.T169I|ENST00000494208,p.T169I protein_coding, processed_transcript, nonsense_mediated_decay uc001xlz.3 nonsynonymous SNV exon2 c.C506T p.T169I GHGFIAGDLGPSTIVGSAAFNMFII GHGFIAGDLGPSIIVGSAAFNMFII 3.0 9.0 - - 4301_14:70634634-70634634 G>A_GHGFIAGDLGPSIIVGSAAFNMFII 0.0 7:1478542-1478542 C>G 1.0 4326 BREAST - - - - MICALL2 uc003skj.4,p.G686R|ENST00000405088,p.G474R|ENST00000297508,p.G686R|uc003ski.4,p.G173R|NM_182924,p.G686R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003skj.4 nonsynonymous SNV exon10 c.G2056C p.G686R DVCDNWLRPEPPGQEARVQSWKEEE DVCDNWLRPEPPRQEARVQSWKEEE 7.0 8.0 - - 4326_7:1478542-1478542 C>G_DVCDNWLRPEPPRQEARVQSWKEEE 0.0 15:74914482-74914482 C>T 1.0 4259 COLORECTAL - - - - CLK3 ENST00000345005,p.R131C|uc002ayj.4,p.R131C|ENST00000352989,p.R131C|ENST00000566126,p.R131C|uc010uln.2,p.R279C|uc002ayg.4,p.R131C|NM_001130028,p.R279C|ENST00000564096,p.R131C|ENST00000395066,p.R279C|ENST00000568139,p.R165C|NM_003992,p.R131C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010uln.2 nonsynonymous SNV exon4 c.C835T p.R279C SSASSRSQQSSKRSSRSVEDDKEGH SSASSRSQQSSKCSSRSVEDDKEGH 10.0 5.0 - - 4259_15:74914482-74914482 C>T_SSASSRSQQSSKCSSRSVEDDKEGH 0.0 19:18576269-18576269 G>A 1.0 4160 COLORECTAL - - - 1 ELL ENST00000262809,p.T141M|NM_006532,p.T141M|uc002njh.3,p.T141M|uc010ebq.3,p.T84M retained_intron, protein_coding, processed_transcript uc010ebq.3 nonsynonymous SNV exon5 c.C251T p.T84M KARQSMAQAEEETRSRSAIVIKAGG KARQSMAQAEEEMRSRSAIVIKAGG 7.0 7.0 - - 4160_19:18576269-18576269 G>A_KARQSMAQAEEEMRSRSAIVIKAGG 0.0 3:97595934-97595934 T>A 1.0 2369 MELANOMA - - - - CRYBG3 ENST00000182096,p.S18T|uc021xbn.2,p.S1966T|NM_153605,p.S1966T protein_coding, processed_transcript uc021xbn.2 nonsynonymous SNV exon4 c.T5896A p.S1966T PGDTTVRLDKRMSLTAIYDKRRETD PGDTTVRLDKRMTLTAIYDKRRETD 7.0 6.0 - - 2369_3:97595934-97595934 T>A_PGDTTVRLDKRMTLTAIYDKRRETD 0.0 1:156776977-156776977 G>A 0.0 2591 MELANOMA - - - - SH2D2A NM_001161442,p.P370L|uc009wsh.2,p.P398L|uc001fqd.2,p.P388L|NM_001161441,p.P398L|ENST00000368199,p.P388L|uc010phs.1,p.P388L|ENST00000392306,p.P398L|ENST00000368198,p.P370L|uc001fqc.1,p.P360L|NM_003975,p.P388L|NM_001161444,p.P388L|NM_001161443,p.P360L|uc001fqe.2,p.P370L protein_coding, processed_transcript uc010phs.1 nonsynonymous SNV exon8 c.C1163T p.P388L QDRGQAWLPLGPPQ QDRGQAWLPLGPLQ 3.0 2.0 - - 2591_1:156776977-156776977 G>A_QDRGQAWLPLGPLQ 0.0 2:109746315-109746315 G>A 0.0 4235 COLORECTAL - - - - SH3RF3 uc021vlv.1,p.S6L protein_coding uc021vlv.1 nonsynonymous SNV exon1 c.C17T p.S6L MLAGSSSTPQPTRMRHSG MLAGSLSTPQPTRMRHSG 4.0 6.0 - - 4235_2:109746315-109746315 G>A_MLAGSLSTPQPTRMRHSG 0.0 2:179430488-179430488 C>T 0.0 3775 CERVICAL - - - - TTN uc021vtb.2,p.D17726N|NM_003319,p.D17726N|NM_133432,p.D17851N|uc021vta.2,p.D17851N|ENST00000460472,p.D17726N|ENST00000342992,p.D24223N|ENST00000342175,p.D17918N|uc031rqd.1,p.D25150N|uc031rqc.1,p.D26791N|NM_133437,p.D17918N|uc021vsz.2,p.D17918N|ENST00000591111,p.D25150N|ENST00000589042,p.D26791N|NM_001267550,p.D26791N|ENST00000359218,p.D17851N|uc021vsy.2,p.D24223N|NM_133378,p.D24223N|NM_001256850,p.D25150N retained_intron, protein_coding uc031rqd.1 nonsynonymous SNV exon276 c.G75448A p.D25150N EPPSPPGKVTLTDVSQTSASLMWEK EPPSPPGKVTLTNVSQTSASLMWEK 2.0 5.0 - - 3775_2:179430488-179430488 C>T_EPPSPPGKVTLTNVSQTSASLMWEK 0.0 22:29130460-29130460 C>T 1.0 4301 MELANOMA - - - 1 CHEK2 ENST00000382578,p.E84K|ENST00000433728,p.E84K|ENST00000382566,p.E84K|ENST00000402731,p.E84K|uc003adv.1,p.E84K|ENST00000433028,p.E84K|ENST00000405598,p.E84K|ENST00000404276,p.E84K|uc010gvh.1,p.E84K|NM_145862,p.E84K|NM_007194,p.E84K|ENST00000382565,p.E84K|uc003adu.1,p.E84K|ENST00000416671,p.E84K|uc003adt.1,p.E84K|ENST00000439200,p.E84K|NM_001005735,p.E84K|ENST00000398017,p.E94K|uc010gvi.1,p.E84K|ENST00000447421,p.E84K|ENST00000328354,p.E84K|ENST00000382580,p.E84K|ENST00000417588,p.E84K|ENST00000448511,p.E84K|ENST00000403642,p.E84K|ENST00000348295,p.E84K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010gvi.1 nonsynonymous SNV exon1 c.G250A p.E84K YSIPEDQEPEDQEPEEPTPAPWARL YSIPEDQEPEDQKPEEPTPAPWARL 8.0 2.0 - - 4301_22:29130460-29130460 C>T_YSIPEDQEPEDQKPEEPTPAPWARL 0.0 11:122955333-122955333 C>A 1.0 3466 MELANOMA - - - - CLMP ENST00000448775,p.G92V|NM_024769,p.G92V|uc001pyt.3,p.G92V retained_intron, protein_coding, processed_transcript uc001pyt.3 nonsynonymous SNV exon3 c.G275T p.G92V KGRVAFASNFLAGDASLQIEPLKPS KGRVAFASNFLAVDASLQIEPLKPS 6.0 4.0 - - 3466_11:122955333-122955333 C>A_KGRVAFASNFLAVDASLQIEPLKPS 0.0 15:52252196-52252196 G>A 1.0 4000 MELANOMA - - - - LEO1 ENST00000315141,p.P354S|ENST00000299601,p.P354S|uc002abo.3,p.P354S|NM_138792,p.P354S|uc010bfd.3,p.P354S|NM_001286430,p.P354S retained_intron, protein_coding uc010bfd.3 nonsynonymous SNV exon5 c.C1060T p.P354S GLPQDQQEEEPIPETRIEVEIPKVN GLPQDQQEEEPISETRIEVEIPKVN 8.0 5.0 - - 4000_15:52252196-52252196 G>A_GLPQDQQEEEPISETRIEVEIPKVN 0.0 7:141952072-141952072 G>A 0.0 3903 MELANOMA - - - - PRSS58 uc003vxb.3,p.P232L|uc003vxc.4,p.P232L|ENST00000552471,p.P232L|ENST00000547058,p.P232L|NM_001001317,p.P232L protein_coding uc003vxc.4 nonsynonymous SNV exon6 c.C695T p.P232L DVGIYAKIFYYIPWIENVIQNN DVGIYAKIFYYILWIENVIQNN 1.0 9.0 - - 3903_7:141952072-141952072 G>A_DVGIYAKIFYYILWIENVIQNN 0.0 11:68665406-68665406 C>G 1.0 4186 BREAST - - - - MRPL21 ENST00000541279,p.R74T|uc001ooi.3,p.R74T|uc010rqe.1,p.R74T|ENST00000362034,p.R74T|NM_181514,p.R74T retained_intron, protein_coding, nonsense_mediated_decay uc010rqe.1 nonsynonymous SNV exon3 c.G221C p.R74T PEVVLPDPVEETRHHAEVVKKVNEM PEVVLPDPVEETTHHAEVVKKVNEM 10.0 4.0 - - 4186_11:68665406-68665406 C>G_PEVVLPDPVEETTHHAEVVKKVNEM 0.0 X:37953569-37953569 A>G 0.0 4245 COLORECTAL - - - - SYTL5 NM_001163335,p.M285V|uc004ddv.3,p.M285V|ENST00000456733,p.M285V|ENST00000357972,p.M285V|uc004ddu.3,p.M285V|uc004ddx.3,p.M285V|NM_001163334,p.M285V|ENST00000297875,p.M285V|NM_138780,p.M285V protein_coding uc004ddx.3 nonsynonymous SNV exon7 c.A853G p.M285V SVISREYGFENSMDLAAIEGTSQEL SVISREYGFENSVDLAAIEGTSQEL 5.0 9.0 - - 4245_X:37953569-37953569 A>G_SVISREYGFENSVDLAAIEGTSQEL 0.0 19:20045509-20045509 C>T 1.0 3713 MELANOMA - - - - ZNF93 ENST00000343769,p.S582L|uc002non.3,p.S582L|NM_031218,p.S582L protein_coding, processed_transcript, nonsense_mediated_decay uc002non.3 nonsynonymous SNV exon4 c.C1745T p.S582L CGKAFNHSATLSSHKKIHSGEKPYE CGKAFNHSATLSLHKKIHSGEKPYE 3.0 8.0 - - 3713_19:20045509-20045509 C>T_CGKAFNHSATLSLHKKIHSGEKPYE 0.0 4:91549285-91549285 G>A 0.0 2556 MELANOMA - - - - CCSER1 NM_207491,p.E612K|ENST00000432775,p.E612K|uc003hsv.4,p.E612K|NM_001145065,p.E612K|ENST00000333691,p.E612K|ENST00000509176,p.E612K|uc003hsw.3,p.E612K|ENST00000505073,p.E612K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003hsw.3 nonsynonymous SNV exon6 c.G1834A p.E612K SPSADWPLQGVEENGGIDSLPFRLM SPSADWPLQGVEKNGGIDSLPFRLM 4.0 4.0 - - 2556_4:91549285-91549285 G>A_SPSADWPLQGVEKNGGIDSLPFRLM 0.0 7:45141594-45141594 G>A 1.0 2369 MELANOMA - - - - TBRG4 ENST00000361278,p.P356L|uc003tmu.3,p.P291L|ENST00000395655,p.P356L|NM_001261834,p.P477L|uc003tmw.4,p.P356L|NM_199122,p.P356L|uc003tmv.4,p.P466L|uc003tmx.4,p.P356L|ENST00000494076,p.P466L|uc011kcd.3,p.P477L|NM_004749,p.P466L|ENST00000258770,p.P466L|NM_030900,p.P356L retained_intron, protein_coding, processed_transcript uc011kcd.3 nonsynonymous SNV exon8 c.C1430T p.P477L LLHINATALLEYPEYSGPLLPASAV LLHINATALLEYLEYSGPLLPASAV 10.0 7.0 - - 2369_7:45141594-45141594 G>A_LLHINATALLEYLEYSGPLLPASAV 0.0 16:10631889-10631889 G>A 1.0 4155 MELANOMA - - - - EMP2 ENST00000359543,p.S71F|ENST00000536829,p.S71F|uc002czx.3,p.S71F|NM_001424,p.S71F retained_intron, protein_coding, processed_transcript uc002czx.3 nonsynonymous SNV exon4 c.C212T p.S71F STLQAVQATMILSTILCCIAFFIFV STLQAVQATMILFTILCCIAFFIFV 9.0 2.0 - - 4155_16:10631889-10631889 G>A_STLQAVQATMILFTILCCIAFFIFV 0.0 8:118183312-118183312 T>G 0.0 4235 COLORECTAL - - - - SLC30A8 ENST00000519688,p.L241R|ENST00000427715,p.L241R|ENST00000456015,p.L290R|NM_001172814,p.L241R|NM_173851,p.L290R|uc011lia.2,p.L241R|NM_001172813,p.L241R|uc003yog.3,p.L241R|ENST00000521243,p.L241R|uc022bab.1,p.L241R|NM_001172815,p.L241R|NM_001172811,p.L241R|uc003yoh.3,p.L290R|uc010mcz.3,p.L241R retained_intron, protein_coding, processed_transcript uc022bab.1 nonsynonymous SNV exon8 c.T722G p.L241R VPKSLNYSGVKELILAVDGVLSVHS VPKSLNYSGVKERILAVDGVLSVHS 1.0 4.0 - - 4235_8:118183312-118183312 T>G_VPKSLNYSGVKERILAVDGVLSVHS 0.0 15:79298652-79298652 G>A 0.0 4259 COLORECTAL - - - - RASGRF1 NM_001145648,p.R651C|ENST00000558480,p.R651C|uc002ber.4,p.R651C|uc002bep.3,p.R651C|uc010unh.1,p.R59C|ENST00000419573,p.R664C|uc002beq.3,p.R664C|uc010blm.1,p.R573C|NM_002891,p.R664C retained_intron, protein_coding, processed_transcript, TEC uc010unh.1 nonsynonymous SNV exon3 c.C175T p.R59C SVERLLERLTDLRFLSIDFLNTFLH SVERLLERLTDLCFLSIDFLNTFLH 5.0 9.0 - - 4259_15:79298652-79298652 G>A_SVERLLERLTDLCFLSIDFLNTFLH 0.0 X:134427782-134427782 C>A 0.0 4245 COLORECTAL - - - - ZNF75D ENST00000370766,p.E95D|NM_007131,p.E95D|ENST00000370764,p.E95D|uc022ceq.1,p.E95D|NM_001185063,p.E95D|uc004eyo.3,p.E95D protein_coding, processed_transcript uc022ceq.1 nonsynonymous SNV exon2 c.G285T p.E95D HSKEQILEMLVLEQFLSILPKETQN HSKEQILEMLVLDQFLSILPKETQN 8.0 2.0 - - 4245_X:134427782-134427782 C>A_HSKEQILEMLVLDQFLSILPKETQN 0.0 20:1352812-1352812 T>C 1.0 3919 MELANOMA - - - - FKBP1A uc002wfa.3,p.I91V|ENST00000381715,p.I86V|ENST00000381724,p.I86V|ENST00000439640,p.I75V|NM_054014,p.I91V|uc010gae.2,p.I75V|ENST00000381719,p.I91V|ENST00000400137,p.I91V|uc002wey.3,p.I91V|NM_000801,p.I91V protein_coding, processed_transcript uc010gae.2 nonsynonymous SNV exon3 c.A223G p.I75V PDYAYGATGHPGIIPPHATLVFDVE PDYAYGATGHPGVIPPHATLVFDVE 10.0 2.0 - - 3919_20:1352812-1352812 T>C_PDYAYGATGHPGVIPPHATLVFDVE 0.0 22:25566875-25566875 C>T 1.0 4095 COLORECTAL - - - - KIAA1671 uc003abl.3,p.T47M|ENST00000406486,p.T1540M|NM_001145206,p.T1540M|ENST00000401395,p.T47M|uc003abn.3,p.T1540M|ENST00000358431,p.T1540M retained_intron, protein_coding uc003abn.3 nonsynonymous SNV exon5 c.C4619T p.T1540M DTLVHEAGSQYGTWTEQCQSGESLA DTLVHEAGSQYGMWTEQCQSGESLA 7.0 7.0 - - 4095_22:25566875-25566875 C>T_DTLVHEAGSQYGMWTEQCQSGESLA 0.0 11:408731-408731 C>T 0.0 3919 MELANOMA - - - - SIGIRR NM_001135053,p.G57E|uc001lpf.2,p.G57E|ENST00000530494,p.G57E|uc001lpd.2,p.G57E|ENST00000397632,p.G57E|ENST00000382520,p.G57E|NM_021805,p.G57E|ENST00000332725,p.G57E|uc001lpe.1,p.G57E|ENST00000531205,p.G57E|uc001lpg.3,p.G57E|NM_001135054,p.G57E|ENST00000431843,p.G57E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001lpg.3 nonsynonymous SNV exon2 c.G170A p.G57E PSVQWLKDGLPLGIGGHYSLHEYSW PSVQWLKDGLPLEIGGHYSLHEYSW 6.0 10.0 - - 3919_11:408731-408731 C>T_PSVQWLKDGLPLEIGGHYSLHEYSW 0.0 17:43045127-43045127 C>T 0.0 4298 COLORECTAL - - - - C1QL1 NM_006688,p.G97E|uc002ihv.3,p.G97E|ENST00000253407,p.G97E protein_coding uc002ihv.3 nonsynonymous SNV exon1 c.G290A p.G97E GDPGPPGPVGPPGEKGEPGKPGPPG GDPGPPGPVGPPEEKGEPGKPGPPG 4.0 4.0 - - 4298_17:43045127-43045127 C>T_GDPGPPGPVGPPEEKGEPGKPGPPG 0.0 2:108487231-108487231 A>C 0.0 4320 COLORECTAL - - - - RGPD4 NM_182588,p.K924T|ENST00000408999,p.K924T|uc010ywk.2,p.K924T|ENST00000354986,p.K924T|uc002tdu.3,p.K111T protein_coding uc010ywk.2 nonsynonymous SNV exon20 c.A2771C p.K924T EGFSIPVSADGFKFGISEPGNQEKE EGFSIPVSADGFTFGISEPGNQEKE 7.0 1.0 - - 4320_2:108487231-108487231 A>C_EGFSIPVSADGFTFGISEPGNQEKE 0.0 3:50378858-50378858 C>A 0.0 4298 COLORECTAL - - - - ZMYND10 uc010hll.1,p.G431C|NM_015896,p.G436C|ENST00000231749,p.G436C|ENST00000360165,p.G431C|uc003dag.1,p.G436C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010hll.1 nonsynonymous SNV exon11 c.G1291T p.G431C EKHGKTCVLAAQGDRAK EKHGKTCVLAAQCDRAK 3.0 7.0 - - 4298_3:50378858-50378858 C>A_EKHGKTCVLAAQCDRAK 0.0 19:54313706-54313706 C>T 0.0 4335 COLORECTAL - - - - NLRP12 uc010eqx.4,p.V403I|uc002qcj.5,p.V403I|ENST00000345770,p.V403I|ENST00000391773,p.V403I|NM_144687,p.V403I|NM_001277126,p.V403I|uc002qch.5,p.V403I|ENST00000391772,p.V403I|ENST00000354278,p.V403I|NM_001277129,p.V403I|uc002qci.5,p.V403I|ENST00000324134,p.V403I|ENST00000535162,p.V403I|ENST00000351894,p.V403I|ENST00000391775,p.V403I retained_intron, protein_coding uc010eqx.4 nonsynonymous SNV exon3 c.G1207A p.V403I VRDNEPLFTMCFVPLVCWVVCTCLQ VRDNEPLFTMCFIPLVCWVVCTCLQ 6.0 9.0 - - 4335_19:54313706-54313706 C>T_VRDNEPLFTMCFIPLVCWVVCTCLQ 0.0 9:86928366-86928366 C>T 0.0 2591 MELANOMA - - - - SLC28A3 NM_022127,p.E22K|uc004anu.2,p.E22K|NM_001199633,p.E22K|ENST00000376238,p.E22K|uc010mpz.3,p.E22K protein_coding, processed_transcript uc010mpz.3 nonsynonymous SNV exon2 c.G64A p.E22K RAEGYSNVGFQNEENFLENENTSGN RAEGYSNVGFQNKENFLENENTSGN 2.0 3.0 - - 2591_9:86928366-86928366 C>T_RAEGYSNVGFQNKENFLENENTSGN 0.0 12:40717004-40717004 C>T 1.0 3998 MELANOMA - - - - LRRK2 uc001rmg.4,p.P1851L|uc009zjw.3,p.P689L|ENST00000298910,p.P1851L|uc001rmi.3,p.P684L|NM_198578,p.P1851L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009zjw.3 nonsynonymous SNV exon17 c.C2066T p.P689L LLVNPDQPRLTIPISQIAPDLILAD LLVNPDQPRLTILISQIAPDLILAD 7.0 9.0 - - 3998_12:40717004-40717004 C>T_LLVNPDQPRLTILISQIAPDLILAD 0.0 21:40193564-40193564 C>T 1.0 3879 MELANOMA - - - - ETS2 NM_005239,p.S377F|ENST00000360938,p.S377F|ENST00000360214,p.S377F|NM_001256295,p.S517F|uc002yxf.3,p.S517F|uc002yxg.4,p.S377F protein_coding uc002yxg.4 nonsynonymous SNV exon9 c.C1130T p.S377F LWQFLLELLSDKSCQSFISWTGDGW LWQFLLELLSDKFCQSFISWTGDGW 7.0 6.0 - - 3879_21:40193564-40193564 C>T_LWQFLLELLSDKFCQSFISWTGDGW 0.0 1:67438613-67438613 G>A 1.0 3713 MELANOMA - - - - MIER1 uc001ddh.2,p.R231K|NM_001146113,p.R231K|NM_020948,p.R311K|ENST00000371016,p.R311K|uc001ddj.1,p.R294K|uc001ddf.2,p.R311K|uc001ddg.2,p.R267K|uc010opg.1,p.R311K|uc001ddc.2,p.R347K|uc010opf.1,p.R311K|ENST00000371018,p.R311K|NM_001077700,p.R347K|uc001dde.2,p.R347K|NM_001146110,p.R311K|NM_001146111,p.R311K|ENST00000355977,p.R231K|ENST00000371014,p.R347K|NM_001077701,p.R294K|ENST00000401042,p.R294K|NM_001146112,p.R267K|NM_001077703,p.R347K|uc001ddi.2,p.R294K|NM_001077702,p.R311K|ENST00000355356,p.R294K|uc009way.2,p.R311K|NM_001077704,p.R294K|ENST00000401041,p.R347K|ENST00000357692,p.R311K protein_coding, processed_transcript uc010opg.1 nonsynonymous SNV exon12 c.G932A p.R311K REELSVWTEEECRNFEQGLKAYGKD REELSVWTEEECKNFEQGLKAYGKD 7.0 4.0 - - 3713_1:67438613-67438613 G>A_REELSVWTEEECKNFEQGLKAYGKD 0.0 11:62598584-62598584 ->G 1.0 4284 COLORECTAL - - ID=COSM112032;OCCURENCE=1(ovary),4(large_intestine) - STX5 uc001nvh.3,p.P44fs|NM_001244666,p.P44fs|NM_003164,p.P44fs|uc010rmj.2,p.P44fs - uc010rmj.2 frameshift insertion exon2 c.131dupC p.P44fs GSSSSDIAPLPPPVTLVPPPPDTMS GSSSSDIAPLPPPSDPRPSPSRHHVLPGSDPGVSVCLQVAADPSEWNPDK 9.0 7.0 - - 4284_11:62598584-62598584 ->G_GSSSSDIAPLPPPSDPRPSPSRHHVLPGSDPGVSVCLQVAADPSEWNPDK 0.0 5:112162917-112162917 ->T 1.0 4317 COLORECTAL - - - 1 APC ENST00000512211,p.N507fs|ENST00000508376,p.N507fs|uc003kpy.4,p.N507fs|ENST00000507379,p.N489fs|NM_001127511,p.N489fs|uc003kpz.4,p.N507fs|NM_000038,p.N507fs|NM_001127510,p.N507fs|ENST00000504915,p.N70fs|uc011cvt.2,p.N489fs|ENST00000457016,p.N507fs|uc010jbz.3,p.N224fs|ENST00000257430,p.N507fs processed_transcript,retained_intron, protein_coding, nonsense_mediated_decay uc011cvt.2 frameshift insertion exon10 c.1468dupT p.N489fs ITLRRYAGMALTNLTFGDVANKATL ITLRRYAGMALTNFDFWRCSQQGYAMLYERLHESTCGPTKI 8.0 10.0 - - 4317_5:112162917-112162917 ->T_ITLRRYAGMALTNFDFWRCSQQGYAMLYERLHESTCGPTKI 0.0 12:102158720-102158720 G>A 1.0 3713 MELANOMA - - - - GNPTAB uc001tit.3,p.L659F|NM_024312,p.L659F|ENST00000299314,p.L659F retained_intron, protein_coding, nonsense_mediated_decay uc001tit.3 nonsynonymous SNV exon13 c.C1975T p.L659F KGYENLVSPITLLPEAEILFEDIPK KGYENLVSPITLFPEAEILFEDIPK 9.0 6.0 - - 3713_12:102158720-102158720 G>A_KGYENLVSPITLFPEAEILFEDIPK 0.0 7:21640506-21640506 A>C 0.0 4238 COLORECTAL - - - - DNAH11 uc031swp.1,p.E1071D|NM_001277115,p.E1071D|ENST00000409508,p.E1071D|ENST00000328843,p.E1071D retained_intron, protein_coding, processed_transcript uc031swp.1 nonsynonymous SNV exon16 c.A3213C p.E1071D VSSDEMDAHANEEIPEQPPTLEQFK VSSDEMDAHANEDIPEQPPTLEQFK 2.0 6.0 - - 4238_7:21640506-21640506 A>C_VSSDEMDAHANEDIPEQPPTLEQFK 0.0 22:38150888-38150888 C>T 1.0 4000 MELANOMA - - - - TRIOBP NM_138632,p.P82L|NM_007032,p.P82L|uc003atw.3,p.P82L|NM_001039141,p.P1795L|uc003atv.3,p.P82L|ENST00000418339,p.P41L|ENST00000403663,p.P82L|ENST00000407319,p.P82L|uc003atr.3,p.P1795L|uc003atu.3,p.P1623L|ENST00000406386,p.P1795L retained_intron, protein_coding, nonsense_mediated_decay uc003atw.3 nonsynonymous SNV exon3 c.C245T p.P82L GWMSILDEPGEPPSPSLTTTSTSQW GWMSILDEPGEPLSPSLTTTSTSQW 9.0 8.0 - - 4000_22:38150888-38150888 C>T_GWMSILDEPGEPLSPSLTTTSTSQW 0.0 9:75773675-75773675 C>T 1.0 3713 MELANOMA - - - - ANXA1 ENST00000257497,p.P44L|ENST00000376911,p.P44L|uc004ajf.1,p.P44L|ENST00000415424,p.P44L|ENST00000456643,p.P55L|NM_000700,p.P44L|uc004ajg.1,p.P44L protein_coding, processed_transcript uc004ajg.1 nonsynonymous SNV exon2 c.C131T p.P44L PGSAVSPYPTFNPSSDVAALHKAIM PGSAVSPYPTFNLSSDVAALHKAIM 10.0 3.0 - - 3713_9:75773675-75773675 C>T_PGSAVSPYPTFNLSSDVAALHKAIM 0.0 17:48431776-48431776 G>A 1.0 3775 CERVICAL - - - - XYLT2 uc002iqo.3,p.M212I|ENST00000507602,p.M212I|NM_022167,p.M212I|ENST00000017003,p.M212I|ENST00000376550,p.M212I retained_intron, protein_coding, nonsense_mediated_decay uc002iqo.3 nonsynonymous SNV exon3 c.G636A p.M212I KAVPRHCQLTGKMSPGIQWDESQAQ KAVPRHCQLTGKISPGIQWDESQAQ 6.0 10.0 - - 3775_17:48431776-48431776 G>A_KAVPRHCQLTGKISPGIQWDESQAQ 0.0 12:1749063-1749063 G>A 0.0 3713 MELANOMA - - - - WNT5B NM_030775,p.R181Q|NM_032642,p.R181Q|ENST00000543071,p.R181Q|uc009zdq.3,p.R181Q|uc001qjk.3,p.R181Q|uc001qjj.3,p.R181Q|ENST00000397196,p.R181Q|ENST00000310594,p.R181Q|uc001qjl.3,p.R181Q|ENST00000537031,p.R181Q protein_coding, processed_transcript uc009zdq.3 nonsynonymous SNV exon4 c.G542A p.R181Q YRFAKEFVDAREREKNFAKGSEEQG YRFAKEFVDAREQEKNFAKGSEEQG 2.0 7.0 - - 3713_12:1749063-1749063 G>A_YRFAKEFVDAREQEKNFAKGSEEQG 0.0 13:33327484-33327484 A>C 0.0 4345 COLORECTAL - - - - PDS5B uc010abf.3,p.Q917H|ENST00000450460,p.Q917H|ENST00000315596,p.Q917H|NM_015032,p.Q917H retained_intron, protein_coding, nonsense_mediated_decay uc010abf.3 nonsynonymous SNV exon25 c.A2751C p.Q917H QLCALAINDECYQVRQVFAQKLHKG QLCALAINDECYHVRQVFAQKLHKG 9.0 2.0 - - 4345_13:33327484-33327484 A>C_QLCALAINDECYHVRQVFAQKLHKG 0.0 9:88247668-88247668 C>T 0.0 4186 BREAST - - - - AGTPBP1 NM_015239,p.E602K|uc011ltd.2,p.E642K|ENST00000432218,p.E480K|uc011lte.2,p.E654K|ENST00000357081,p.E642K|ENST00000376083,p.E602K|NM_001286715,p.E694K|ENST00000376109,p.E654K|uc004aod.4,p.E268K|uc011ltc.2,p.E540K|uc010mqc.3,p.E602K|NM_001286717,p.E654K protein_coding, processed_transcript uc011lte.2 nonsynonymous SNV exon13 c.G1960A p.E654K YIEIVKNTKSVPEYSEVAYPDYFGH YIEIVKNTKSVPKYSEVAYPDYFGH 5.0 5.0 - - 4186_9:88247668-88247668 C>T_YIEIVKNTKSVPKYSEVAYPDYFGH 0.0 11:45241212-45241212 C>T 0.0 3998 MELANOMA - - - - PRDM11 NM_001256696,p.R216W|ENST00000424263,p.R216W|uc031pzz.1,p.R247W|ENST00000263765,p.R250W|uc031qaa.1,p.R216W|ENST00000530656,p.R250W|NM_001256695,p.R216W|uc031qab.1,p.R216W protein_coding, processed_transcript uc031qab.1 nonsynonymous SNV exon6 c.C646T p.R216W SERIYFRACRDIRPGEWLRVWYSED SERIYFRACRDIWPGEWLRVWYSED 5.0 8.0 - - 3998_11:45241212-45241212 C>T_SERIYFRACRDIWPGEWLRVWYSED 0.0 1:76877984-76877984 G>A 0.0 4346 COLORECTAL 0.0005 - ID=COSM912201;OCCURENCE=1(endometrium) - ST6GALNAC3 ENST00000328299,p.V169I|uc010orh.1,p.V104I|uc001dhh.2,p.V169I|NM_001160011,p.V169I|uc001dhg.4,p.V169I|NM_152996,p.V169I protein_coding, processed_transcript uc010orh.1 nonsynonymous SNV exon2 c.G310A p.V104I PFRNMRKDGNGIVYNMLKKTVGIYP PFRNMRKDGNGIIYNMLKKTVGIYP 3.0 10.0 - - 4346_1:76877984-76877984 G>A_PFRNMRKDGNGIIYNMLKKTVGIYP 0.0 2:21250760-21250760 T>A 0.0 4213 COLORECTAL - - - - APOB uc002red.3,p.K669N|NM_000384,p.K669N|ENST00000233242,p.K669N|ENST00000399256,p.K669N protein_coding uc002red.3 nonsynonymous SNV exon14 c.A2007T p.K669N GNLIFDPNNYLPKESMLKTTLTAFG GNLIFDPNNYLPNESMLKTTLTAFG 2.0 7.0 - - 4213_2:21250760-21250760 T>A_GNLIFDPNNYLPNESMLKTTLTAFG 0.0 12:109717570-109717570 G>A 0.0 4326 BREAST - - - - FOXN4 uc009zvg.3,p.A284V|uc001tof.4,p.A307V|ENST00000355216,p.A307V|NM_213596,p.A487V|uc001toe.4,p.A487V|ENST00000299162,p.A487V protein_coding, processed_transcript, nonsense_mediated_decay uc009zvg.3 nonsynonymous SNV exon7 c.C851T p.A284V SFPDLQVTGLYTAYSTPDSVAASGT SFPDLQVTGLYTVYSTPDSVAASGT 3.0 4.0 - - 4326_12:109717570-109717570 G>A_SFPDLQVTGLYTVYSTPDSVAASGT 0.0 12:67691552-67691552 C>T 1.0 3466 MELANOMA - - - - CAND1 ENST00000540319,p.P140L|ENST00000545606,p.P258L|uc001stn.2,p.P258L|NM_018448,p.P258L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001stn.2 nonsynonymous SNV exon6 c.C773T p.P258L GHRIGEYLEKIIPLVVKFCNVDDDE GHRIGEYLEKIILLVVKFCNVDDDE 10.0 9.0 - - 3466_12:67691552-67691552 C>T_GHRIGEYLEKIILLVVKFCNVDDDE 0.0 19:2115578-2115578 G>A 1.0 3713 MELANOMA - - - - AP3D1 ENST00000345016,p.P703L|uc002lva.4,p.P703L|ENST00000350812,p.P534L|ENST00000355272,p.P703L|uc002luz.4,p.P703L|NM_001261826,p.P703L|NM_003938,p.P703L|uc031riw.1,p.P431L|ENST00000356926,p.P612L retained_intron, protein_coding, processed_transcript uc031riw.1 nonsynonymous SNV exon12 c.C1292T p.P431L KRYQDTPGVEHIPVVQIDLSVPLKV KRYQDTPGVEHILVVQIDLSVPLKV 8.0 4.0 - - 3713_19:2115578-2115578 G>A_KRYQDTPGVEHILVVQIDLSVPLKV 0.0 7:100357385-100357385 C>G 0.0 4326 BREAST - - - - ZAN uc003uwj.3,p.Q1205E|ENST00000538115,p.Q1205E|uc003uwk.3,p.Q1205E|ENST00000546292,p.Q1205E|ENST00000542585,p.Q1205E protein_coding, polymorphic_pseudogene uc003uwk.3 nonsynonymous SNV exon18 c.C3613G p.Q1205E FFRVTAKNEEQGQEGVSCLSKVYVT FFRVTAKNEEQGEEGVSCLSKVYVT 2.0 7.0 - - 4326_7:100357385-100357385 C>G_FFRVTAKNEEQGEEGVSCLSKVYVT 0.0 12:124377780-124377780 G>A 0.0 3903 MELANOMA - - - - DNAH10 uc001uft.4,p.G2881E|ENST00000409039,p.G2881E|NM_207437,p.G2881E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001uft.4 nonsynonymous SNV exon52 c.G8642A p.G2881E GFLELINNMLTSGIVPALFSEEEKE GFLELINNMLTSEIVPALFSEEEKE 4.0 2.0 - - 3903_12:124377780-124377780 G>A_GFLELINNMLTSEIVPALFSEEEKE 0.0 21:37610932-37610932 G>A 1.0 4234 NSCLC - - - - DOPEY2 uc011aeb.2,p.V886M retained_intron, protein_coding, processed_transcript uc011aeb.2 nonsynonymous SNV exon15 c.G2656A p.V886M QGTRLEALFRFSVIWHLTREIQGSR QGTRLEALFRFSMIWHLTREIQGSR 7.0 7.0 CD8 - 4234_21:37610932-37610932 G>A_QGTRLEALFRFSMIWHLTREIQGSR 2.0 1:71542504-71542504 T>G 1.0 4071 COLORECTAL - - - - ZRANB2 ENST00000254821,p.K92T|NM_203350,p.K92T|uc001dft.3,p.K92T|ENST00000370920,p.K92T|NM_005455,p.K92T|uc001dfs.3,p.K92T protein_coding, processed_transcript uc001dft.3 nonsynonymous SNV exon4 c.A275C p.K92T ARRSECNMCNTPKYAKLEERTGYGG ARRSECNMCNTPTYAKLEERTGYGG 9.0 6.0 - - 4071_1:71542504-71542504 T>G_ARRSECNMCNTPTYAKLEERTGYGG 0.0 X:32841428-32841428 A>C 0.0 4158 COLORECTAL - - - - DMD ENST00000447523,p.I77R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000447523 nonsynonymous SNV exon3 c.T230G p.I77R GNHKLTLGLIWNIILHWQVLGDRWA GNHKLTLGLIWNRILHWQVLGDRWA 5.0 6.0 - - 4158_X:32841428-32841428 A>C_GNHKLTLGLIWNRILHWQVLGDRWA 0.0 6:117047682-117047682 C>T 0.0 2224 MELANOMA - - ID=COSM109477;OCCURENCE=1(skin) - KPNA5 uc003pxh.3,p.P384S|NM_002269,p.P384S|ENST00000368564,p.P384S|ENST00000356348,p.P384S protein_coding uc003pxh.3 nonsynonymous SNV exon12 c.C1150T p.P384S AQIQAVIDANIFPVLIEILQKAEFR AQIQAVIDANIFSVLIEILQKAEFR 6.0 9.0 CD8 - 2224_6:117047682-117047682 C>T_AQIQAVIDANIFSVLIEILQKAEFR 1.0 6:43305054-43305054 C>A 1.0 4129 NSCLC - - - - ZNF318 NM_014345,p.D2228Y|uc003oux.3,p.D2228Y|ENST00000361428,p.D2228Y protein_coding uc003oux.3 nonsynonymous SNV exon10 c.G6682T p.D2228Y STTEVAILQVDDDSGDPLNLVKAPV STTEVAILQVDDYSGDPLNLVKAPV 6.0 9.0 - - 4129_6:43305054-43305054 C>A_STTEVAILQVDDYSGDPLNLVKAPV 0.0 3:179527365-179527365 C>T 0.0 4275 COLORECTAL - - - - PEX5L ENST00000392649,p.A308T|uc011bqf.2,p.A308T|uc003fkj.2,p.A381T|NM_001256756,p.A224T|NM_001256755,p.A308T|ENST00000485199,p.A381T|uc003fki.2,p.A416T|ENST00000467460,p.A416T|NM_016559,p.A416T|NM_001256752,p.A381T|ENST00000476138,p.A373T|NM_001256754,p.A373T|NM_001256753,p.A357T|uc011bqg.2,p.A392T|ENST00000472994,p.A357T|uc011bqh.2,p.A357T|uc010hxd.2,p.A414T|uc011bqe.2,p.A224T|ENST00000468741,p.A224T|uc011bqd.2,p.A373T|NM_001256750,p.A414T|ENST00000263962,p.A414T|ENST00000464614,p.A308T|ENST00000465751,p.A392T|NM_001256751,p.A392T retained_intron, protein_coding, processed_transcript uc011bqh.2 nonsynonymous SNV exon10 c.G1069A p.A357T YTNTGHQQDACDALKNWIKQNPKYK YTNTGHQQDACDTLKNWIKQNPKYK 1.0 4.0 - - 4275_3:179527365-179527365 C>T_YTNTGHQQDACDTLKNWIKQNPKYK 0.0 X:68748968-68748968 G>A 0.0 2556 MELANOMA - - - - FAM155B ENST00000252338,p.E332K|NM_015686,p.E332K|uc004dxk.3,p.E332K protein_coding uc004dxk.3 nonsynonymous SNV exon2 c.G994A p.E332K QTRCPFILPDNEEMVYGGLPGFICT QTRCPFILPDNEKMVYGGLPGFICT 2.0 2.0 - - 2556_X:68748968-68748968 G>A_QTRCPFILPDNEKMVYGGLPGFICT 0.0 2:138434117-138434117 G>C 0.0 4238 COLORECTAL - - - - THSD7B ENST00000409968,p.S1588T|ENST00000272643,p.S1591T|ENST00000413152,p.S1560T retained_intron, protein_coding, processed_transcript ENST00000413152 nonsynonymous SNV exon28 c.G4679C p.S1560T SYLVCKKPKPHQSTPPQQKPLTLAY SYLVCKKPKPHQTTPPQQKPLTLAY 1.0 4.0 - - 4238_2:138434117-138434117 G>C_SYLVCKKPKPHQTTPPQQKPLTLAY 0.0 5:33891901-33891901 A>C 0.0 4252 COLORECTAL - - - - ADAMTS12 uc003jib.1,p.F21V|ENST00000352040,p.F21V|uc010iuq.1,p.F21V|NM_030955,p.F21V|ENST00000504830,p.F21V|uc003jia.1,p.F21V|ENST00000515401,p.F21V protein_coding, processed_transcript uc010iuq.1 nonsynonymous SNV exon1 c.T61G p.F21V LANLSVVAQLLNFGALCYGRQPQPG LANLSVVAQLLNVGALCYGRQPQPG 5.0 7.0 - - 4252_5:33891901-33891901 A>C_LANLSVVAQLLNVGALCYGRQPQPG 0.0 1:208390435-208390435 G>A 1.0 4278 COLORECTAL - - - - PLXNA2 uc001hha.4,p.S332L|NM_025179,p.S278L|ENST00000367033,p.S278L|uc001hgz.3,p.S278L protein_coding, processed_transcript uc001hha.4 nonsynonymous SNV exon1 c.C995T p.S332L VAINSAGDLFYTSRIVRLCKDDPKF VAINSAGDLFYTLRIVRLCKDDPKF 6.0 3.0 - - 4278_1:208390435-208390435 G>A_VAINSAGDLFYTLRIVRLCKDDPKF 0.0 2:31489200-31489200 C>T 1.0 4284 COLORECTAL - - - - EHD3 uc002rnu.3,p.A413V|ENST00000322054,p.A413V|NM_014600,p.A413V protein_coding uc002rnu.3 nonsynonymous SNV exon6 c.C1238T p.A413V ESQRPIQMVKGGAFEGTLHGPFGHG ESQRPIQMVKGGVFEGTLHGPFGHG 5.0 8.0 - - 4284_2:31489200-31489200 C>T_ESQRPIQMVKGGVFEGTLHGPFGHG 0.0 17:74086418-74086418 G>A 1.0 4284 COLORECTAL - - - - EXOC7 ENST00000411744,p.P290L|NM_001145297,p.P349L|uc010wsx.2,p.P290L|ENST00000607838,p.P321L|ENST00000335146,p.P349L|uc010wsw.2,p.P321L|ENST00000405575,p.P321L|NM_001145298,p.P290L|uc002jqs.3,p.P349L|NM_001145299,p.P321L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wsx.2 nonsynonymous SNV exon7 c.C869T p.P290L KHLSEALNDKHGPLAGRDDMLDVET KHLSEALNDKHGLLAGRDDMLDVET 9.0 10.0 - - 4284_17:74086418-74086418 G>A_KHLSEALNDKHGLLAGRDDMLDVET 0.0 20:5294762-5294762 C>T 0.0 4213 COLORECTAL - - - - PROKR2 ENST00000217270,p.R85H|uc010zqx.2,p.R85H|uc010zqy.2,p.R85H|ENST00000546004,p.R85H|NM_144773,p.R85H|uc010zqw.2,p.R85H protein_coding uc010zqy.2 nonsynonymous SNV exon2 c.G254A p.R85H VFIAALTRYKKLRNLTNLLIANLAI VFIAALTRYKKLHNLTNLLIANLAI 1.0 10.0 - - 4213_20:5294762-5294762 C>T_VFIAALTRYKKLHNLTNLLIANLAI 0.0 6:31896559-31896559 C>T 1.0 2369 MELANOMA - - - - C2 ENST00000477310,p.R103W|uc003nyf.3,p.R103W|uc003nye.4,p.R103W|NM_000063,p.R103W|NM_001282458,p.R74W|ENST00000418949,p.R103W|ENST00000299367,p.R103W|NM_001282459,p.R103W|uc011doq.2,p.R74W|ENST00000413154,p.R103W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011doq.2 nonsynonymous SNV exon3 c.C220T p.R74W APVSFENGIYTPRLGSYPVGGNVSF APVSFENGIYTPWLGSYPVGGNVSF 8.0 9.0 - - 2369_6:31896559-31896559 C>T_APVSFENGIYTPWLGSYPVGGNVSF 0.0 11:26582766-26582766 C>T 1.0 3903 MELANOMA - - - - MUC15 ENST00000455601,p.R284Q|uc001mqx.3,p.R284Q|uc001mqw.3,p.R311Q|NM_145650,p.R284Q|ENST00000436318,p.R311Q|ENST00000529533,p.R311Q|NM_001135091,p.R311Q protein_coding uc001mqx.3 nonsynonymous SNV exon4 c.G851A p.R284Q RRLYDDRNEPVLRLDNAPEPYDVSF RRLYDDRNEPVLQLDNAPEPYDVSF 9.0 2.0 - - 3903_11:26582766-26582766 C>T_RRLYDDRNEPVLQLDNAPEPYDVSF 0.0 11:12951870-12951870 A>T 1.0 3466 MELANOMA - - - - TEAD1 ENST00000527575,p.L330F|ENST00000361985,p.L388F|ENST00000527636,p.L388F|ENST00000526600,p.L292F|ENST00000361905,p.L373F|NM_021961,p.L388F|uc009ygl.3,p.L209F|uc001mkk.4,p.L292F|ENST00000334310,p.L319F|uc021qdx.1,p.L388F retained_intron, protein_coding uc021qdx.1 nonsynonymous SNV exon12 c.A1164T p.L388F YMMNSVLENFTILLVVTNRDTQETL YMMNSVLENFTIFLVVTNRDTQETL 10.0 6.0 CD8 - 3466_11:12951870-12951870 A>T_YMMNSVLENFTIFLVVTNRDTQETL 1.0 17:7578190-7578190 T>C 1.0 4259 COLORECTAL - - ID=COSM99718,COSM3355993,COSM99719,COSM1644277,COSM99720,COSM10758;OCCURENCE=18(oesophagus),1(bone),27(upper_aerodigestive_tract),20(central_nervous_system),12(stomach),12(haematopoietic_and_lymphoid_tissue),1(peritoneum),27(lung),4(endometrium),44(ovary),7(soft_tissue),17(large_intestine),1(biliary_tract),1(prostate),8(liver),5(pancreas),16(urinary_tract),3(small_intestine),33(breast),1(skin) 1 TP53 NM_001126114,p.Y220C|NM_001276695,p.Y181C|ENST00000413465,p.Y220C|uc010cnf.2,p.Y61C|NM_001276699,p.Y61C|NM_001126112,p.Y220C|NM_001276760,p.Y181C|ENST00000359597,p.Y220C|NM_001126116,p.Y88C|ENST00000514944,p.Y127C|ENST00000269305,p.Y220C|uc002gii.2,p.Y61C|ENST00000509690,p.Y88C|NM_001276698,p.Y61C|uc002gih.3,p.Y220C|NM_001276696,p.Y181C|ENST00000455263,p.Y220C|NM_001126115,p.Y88C|ENST00000420246,p.Y220C|uc002gij.3,p.Y181C|uc031qyq.1,p.Y181C|NM_001126117,p.Y88C|uc010cng.2,p.Y61C|uc002gin.3,p.Y127C|ENST00000445888,p.Y220C|uc002gig.1,p.Y220C|uc002gio.3,p.Y88C|NM_000546,p.Y220C|NM_001126118,p.Y181C|NM_001276761,p.Y181C|NM_001276697,p.Y61C|NM_001126113,p.Y220C retained_intron, protein_coding, processed_transcript uc031qyq.1 nonsynonymous SNV exon5 c.A542G p.Y181C DRNTFRHSVVVPYEPPEVGSDCTTI DRNTFRHSVVVPCEPPEVGSDCTTI 9.0 10.0 CD8 - 4259_17:7578190-7578190 T>C_DRNTFRHSVVVPCEPPEVGSDCTTI 1.0 1:94048148-94048148 G>A 1.0 4196 COLORECTAL - - - - BCAR3 ENST00000260502,p.P466S|NM_001261409,p.P466S|NM_003567,p.P466S|ENST00000370247,p.P375S|uc009wdm.1,p.P142S|ENST00000370243,p.P466S|ENST00000539242,p.P142S|ENST00000370244,p.P466S|uc001dpz.4,p.P466S|NM_001261410,p.P375S|NM_001261408,p.P466S|uc001dqa.4,p.P466S|uc001dpx.5,p.P142S|uc001dpy.4,p.P375S|uc001dqb.4,p.P466S retained_intron, protein_coding, processed_transcript uc009wdm.1 nonsynonymous SNV exon3 c.C424T p.P142S HTELLTAKQNEAPGPRNSGVNYLIL HTELLTAKQNEASGPRNSGVNYLIL 7.0 10.0 - - 4196_1:94048148-94048148 G>A_HTELLTAKQNEASGPRNSGVNYLIL 0.0 8:91657878-91657878 C>T 1.0 4284 COLORECTAL - - - - TMEM64 uc011lgf.1,p.G86R|ENST00000458549,p.G86R|NM_001146273,p.G86R|ENST00000418210,p.G86R|uc003yen.2,p.G86R|NM_001008495,p.G86R protein_coding, processed_transcript uc011lgf.1 nonsynonymous SNV exon1 c.G256A p.G86R GPPEASELPEPGGALAGGPGSGGGG GPPEASELPEPGRALAGGPGSGGGG 6.0 5.0 - - 4284_8:91657878-91657878 C>T_GPPEASELPEPGRALAGGPGSGGGG 0.0 16:67650654-67650654 G>A 0.0 4186 BREAST - - - 1 CTCF ENST00000264010,p.R320H|NM_006565,p.R320H|uc002etl.3,p.R320H retained_intron, protein_coding uc002etl.3 nonsynonymous SNV exon5 c.G959A p.R320H LLRNHLNTHTGTRPHKCPDCDMAFV LLRNHLNTHTGTHPHKCPDCDMAFV 8.0 10.0 - - 4186_16:67650654-67650654 G>A_LLRNHLNTHTGTHPHKCPDCDMAFV 0.0 5:140182140-140182140 C>T 1.0 4278 COLORECTAL - - - - PCDHA3 ENST00000522353,p.P453L|NM_031497,p.P453L|ENST00000532566,p.P453L|uc011czz.2,p.P453L|NM_018906,p.P453L|uc003lhf.2,p.P453L protein_coding uc011czz.2 nonsynonymous SNV exon1 c.C1358T p.P453L VSVEVADVNDNAPAFSQSEYTVFVK VSVEVADVNDNALAFSQSEYTVFVK 6.0 10.0 - - 4278_5:140182140-140182140 C>T_VSVEVADVNDNALAFSQSEYTVFVK 0.0 5:38883931-38883931 C>G 0.0 4316 COLORECTAL - - - - OSMR NM_001168355,p.Q141E|uc003jln.2,p.Q141E|ENST00000274276,p.Q141E|uc003jlm.2,p.Q141E|NM_003999,p.Q141E|ENST00000502536,p.Q141E protein_coding, nonsense_mediated_decay uc003jln.2 nonsynonymous SNV exon5 c.C421G p.Q141E WSNWSSWEEVSVQDSTGQDILFVFP WSNWSSWEEVSVEDSTGQDILFVFP 5.0 6.0 - - 4316_5:38883931-38883931 C>G_WSNWSSWEEVSVEDSTGQDILFVFP 0.0 15:79265673-79265673 C>T 1.0 4245 COLORECTAL - - - - RASGRF1 uc002bep.3,p.G1195D|NM_002891,p.G1211D|uc002beq.3,p.G1211D|NM_001145648,p.G1195D|ENST00000394745,p.G427D|NM_153815,p.G427D|ENST00000558480,p.G1195D|uc002beo.3,p.G427D|ENST00000419573,p.G1211D retained_intron, protein_coding, processed_transcript, TEC uc002beq.3 nonsynonymous SNV exon26 c.G3632A p.G1211D FIEEGTPNYTEDGLVNFSKMRMISH FIEEGTPNYTEDDLVNFSKMRMISH 5.0 8.0 - - 4245_15:79265673-79265673 C>T_FIEEGTPNYTEDDLVNFSKMRMISH 0.0 6:41160541-41160541 G>T 1.0 4259 COLORECTAL - - - - TREML2 NM_024807,p.A295E|ENST00000483722,p.A295E|uc010jxm.1,p.A295E protein_coding uc010jxm.1 nonsynonymous SNV exon4 c.C884A p.A295E IMVYGFWKKRHMASYSMCSDPSTRD IMVYGFWKKRHMESYSMCSDPSTRD 5.0 9.0 - - 4259_6:41160541-41160541 G>T_IMVYGFWKKRHMESYSMCSDPSTRD 0.0 X:135080654-135080654 G>A 1.0 3678 MELANOMA - - - - SLC9A6 ENST00000370701,p.R154Q|uc011mvx.2,p.R154Q|NM_001177651,p.R154Q|ENST00000370695,p.R206Q|NM_006359,p.R174Q|ENST00000370698,p.R174Q|uc004ezj.3,p.R174Q|uc004ezk.3,p.R206Q|NM_001042537,p.R206Q protein_coding uc011mvx.2 nonsynonymous SNV exon5 c.G461A p.R154Q YAGYSLKRRHFFRNLGSILAYAFLG YAGYSLKRRHFFQNLGSILAYAFLG 7.0 9.0 - - 3678_X:135080654-135080654 G>A_YAGYSLKRRHFFQNLGSILAYAFLG 0.0 16:71065627-71065627 G>A 0.0 4155 MELANOMA - - - - HYDIN uc031qwy.1,p.S908L|ENST00000538248,p.S935L|ENST00000321489,p.S908L|uc010vmc.2,p.S925L|uc010vmd.2,p.S935L|ENST00000393552,p.S526L|NM_001198542,p.S935L|ENST00000541601,p.S925L|NM_001270974,p.S908L|uc021tkq.2,p.S908L|uc010cfz.2,p.S653L|ENST00000393567,p.S908L|NM_001198543,p.S925L|ENST00000448691,p.S908L|NM_017558,p.S908L|ENST00000448089,p.S908L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031qwy.1 nonsynonymous SNV exon19 c.C2723T p.S908L PVQASGTGSTIVSDKPFAPELNLGA PVQASGTGSTIVLDKPFAPELNLGA 3.0 1.0 - - 4155_16:71065627-71065627 G>A_PVQASGTGSTIVLDKPFAPELNLGA 0.0 17:29559857-29559857 T>G 0.0 4317 COLORECTAL - - - 1 NF1 ENST00000579081,p.L1186V|uc010csn.2,p.L1012V|uc002hgg.3,p.L1152V|NM_000267,p.L1152V|ENST00000356175,p.L1152V|uc002hgi.1,p.L185V|NM_001042492,p.L1152V|ENST00000456735,p.L818V|uc002hgh.3,p.L1152V|ENST00000358273,p.L1152V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010csn.2 nonsynonymous SNV exon24 c.T3034G p.L1012V SLRHCTVLAMSNLLNANVDSGLMHS SLRHCTVLAMSNVLNANVDSGLMHS 10.0 5.0 - - 4317_17:29559857-29559857 T>G_SLRHCTVLAMSNVLNANVDSGLMHS 0.0 3:42705819-42705819 A>C 1.0 4252 COLORECTAL - - - - ZBTB47 NM_145166,p.K658T|ENST00000232974,p.K658T|uc003clu.2,p.K658T|ENST00000457842,p.K282T|ENST00000505904,p.K204T protein_coding uc003clu.2 nonsynonymous SNV exon6 c.A1973C p.K658T NMKRHRRTHTGEKPYPCDVCGQRFR NMKRHRRTHTGETPYPCDVCGQRFR 6.0 7.0 - - 4252_3:42705819-42705819 A>C_NMKRHRRTHTGETPYPCDVCGQRFR 0.0 1:171621399-171621399 T>C 0.0 4316 COLORECTAL - - - - MYOC NM_000261,p.Q118R|ENST00000037502,p.Q118R|uc001ghu.3,p.Q118R protein_coding uc001ghu.3 nonsynonymous SNV exon1 c.A353G p.Q118R QAARPQETQEGLQRELGTLRRERDQ QAARPQETQEGLRRELGTLRRERDQ 1.0 7.0 - - 4316_1:171621399-171621399 T>C_QAARPQETQEGLRRELGTLRRERDQ 0.0 1:33960589-33960589 G>C 0.0 3775 CERVICAL - - - - ZSCAN20 uc009vui.3,p.R881T|NM_145238,p.R882T|ENST00000361328,p.R882T|uc001bxj.4,p.R882T protein_coding, processed_transcript uc009vui.3 nonsynonymous SNV exon8 c.G2642C p.R881T SGEKLYECSECGRSFSKSSALISHQ SGEKLYECSECGTSFSKSSALISHQ 4.0 9.0 - - 3775_1:33960589-33960589 G>C_SGEKLYECSECGTSFSKSSALISHQ 0.0 5:147024496-147024496 C>T 0.0 4335 COLORECTAL - - ID=COSM272830;OCCURENCE=1(large_intestine) - JAKMIP2 uc003loq.2,p.A334T|ENST00000333010,p.A292T|ENST00000507386,p.A334T|uc011dbx.2,p.A292T|ENST00000265272,p.A334T|uc003lor.2,p.A334T|NM_014790,p.A334T|NM_001270941,p.A334T|NM_001282282,p.A292T|uc010jgo.2,p.A334T|NM_001270934,p.A334T retained_intron, protein_coding uc011dbx.2 nonsynonymous SNV exon5 c.G874A p.A292T QCKPLLERNKCLAKRNDELMVSLQR QCKPLLERNKCLTKRNDELMVSLQR 5.0 8.0 - - 4335_5:147024496-147024496 C>T_QCKPLLERNKCLTKRNDELMVSLQR 0.0 6:87994132-87994132 C>T 0.0 3903 MELANOMA - - - - GJB7 ENST00000296882,p.D167N|uc021zcj.1,p.D167N|uc003plo.2,p.D167N|ENST00000525899,p.D167N|NM_198568,p.D167N protein_coding, processed_transcript uc021zcj.1 nonsynonymous SNV exon1 c.G499A p.D167N IKCDLKPCPNTVDCFISKPTEKTIF IKCDLKPCPNTVNCFISKPTEKTIF 2.0 10.0 - - 3903_6:87994132-87994132 C>T_IKCDLKPCPNTVNCFISKPTEKTIF 0.0 1:71534983-71534983 G>A 1.0 3466 MELANOMA - - ID=COSM912028,COSM912029;OCCURENCE=1(endometrium) - ZRANB2 NM_203350,p.S249L|ENST00000370920,p.S249L|ENST00000254821,p.S249L|uc001dft.3,p.S249L|uc001dfs.3,p.S249L|NM_005455,p.S249L protein_coding, processed_transcript uc001dft.3 nonsynonymous SNV exon8 c.C746T p.S249L SQSRSRSSSRERSRSRGSKSRSSSR SQSRSRSSSRERLRSRGSKSRSSSR 10.0 6.0 - - 3466_1:71534983-71534983 G>A_SQSRSRSSSRERLRSRGSKSRSSSR 0.0 19:4817345-4817345 A>C 1.0 2369 MELANOMA - - - - TICAM1 uc021unj.1,p.C349G|ENST00000248244,p.C349G|NM_182919,p.C349G|uc002mbi.4,p.C349G protein_coding uc021unj.1 nonsynonymous SNV exon1 c.T1045G p.C349G SVEDTTSPNTKPCPPTPTTPETSPP SVEDTTSPNTKPGPPTPTTPETSPP 6.0 10.0 - - 2369_19:4817345-4817345 A>C_SVEDTTSPNTKPGPPTPTTPETSPP 0.0 8:143921899-143921899 G>T 0.0 4110 BILE DUCT - - - - GML uc003yxg.3,p.A16S|ENST00000522728,p.A16S|NM_002066,p.A16S|ENST00000220940,p.A16S protein_coding uc003yxg.3 nonsynonymous SNV exon2 c.G46T p.A16S FALLLAMELPLVAASATMRAQWTYS FALLLAMELPLVSASATMRAQWTYS 1.0 8.0 - - 4110_8:143921899-143921899 G>T_FALLLAMELPLVSASATMRAQWTYS 0.0 8:8234159-8234159 G>A 1.0 2556 MELANOMA - - - - SGK223 ENST00000330777,p.S587F|uc003wsh.4,p.S587F|ENST00000520004,p.S587F protein_coding uc003wsh.4 nonsynonymous SNV exon2 c.C1760T p.S587F SSGGSSIGPQPPSQGPADPAPSCRT SSGGSSIGPQPPFQGPADPAPSCRT 5.0 5.0 - - 2556_8:8234159-8234159 G>A_SSGGSSIGPQPPFQGPADPAPSCRT 0.0 6:71009776-71009776 C>T 0.0 3795 MELANOMA - - - - COL9A1 NM_001851,p.G90E|ENST00000357250,p.G90E|uc003pfg.4,p.G90E|ENST00000370496,p.G90E retained_intron, protein_coding, processed_transcript uc003pfg.4 nonsynonymous SNV exon4 c.G269A p.G90E VGSATLQVAYKLGNNVDFRIPTRNL VGSATLQVAYKLENNVDFRIPTRNL 4.0 7.0 - - 3795_6:71009776-71009776 C>T_VGSATLQVAYKLENNVDFRIPTRNL 0.0 11:123989712-123989712 C>T 0.0 2556 MELANOMA - - ID=COSM233752;OCCURENCE=1(skin) - VWA5A ENST00000361352,p.R226W|ENST00000392744,p.R242W|NM_014622,p.R226W|ENST00000360334,p.R226W|ENST00000392748,p.R226W|ENST00000456829,p.R226W|uc001pzr.3,p.R226W|uc001pzu.3,p.R226W|uc001pzt.3,p.R226W|NM_198315,p.R226W|NM_001130142,p.R226W|uc001pzs.3,p.R226W|uc010sae.2,p.R242W|ENST00000449321,p.R226W retained_intron, protein_coding uc010sae.2 nonsynonymous SNV exon7 c.C724T p.R242W AQVSLAAGHKFDRDVELLIYYNEVH AQVSLAAGHKFDWDVELLIYYNEVH 3.0 2.0 - - 2556_11:123989712-123989712 C>T_AQVSLAAGHKFDWDVELLIYYNEVH 0.0 1:10363599-10363599 A>T 0.0 4335 COLORECTAL - - - - KIF1B uc001aqv.4,p.R786W|ENST00000377083,p.R786W|ENST00000377093,p.R786W|NM_183416,p.R786W retained_intron, protein_coding, processed_transcript uc001aqv.4 nonsynonymous SNV exon21 c.A2356T p.R786W YGKKDPNERDSWRAVARDVWDTVGV YGKKDPNERDSWWAVARDVWDTVGV 9.0 4.0 - - 4335_1:10363599-10363599 A>T_YGKKDPNERDSWWAVARDVWDTVGV 0.0 1:43240907-43240907 T>A 1.0 4189 MELANOMA - - - - C1orf50 uc001cia.4,p.F148I|ENST00000372525,p.F148I|NM_024097,p.F148I protein_coding, processed_transcript uc001cia.4 nonsynonymous SNV exon5 c.T442A p.F148I SPKEWGTSCPHDFLGAYKLQHDLSW SPKEWGTSCPHDILGAYKLQHDLSW 6.0 7.0 - - 4189_1:43240907-43240907 T>A_SPKEWGTSCPHDILGAYKLQHDLSW 0.0 6:87970666-87970666 A>G 1.0 4345 COLORECTAL - - - - ZNF292 ENST00000369577,p.E2440G|ENST00000339907,p.E2435G|uc003plm.4,p.E2440G|NM_015021,p.E2440G protein_coding, processed_transcript uc003plm.4 nonsynonymous SNV exon8 c.A7319G p.E2440G KRCCNSQVKETSEQEGAKNDVKDSD KRCCNSQVKETSGQEGAKNDVKDSD 8.0 5.0 - - 4345_6:87970666-87970666 A>G_KRCCNSQVKETSGQEGAKNDVKDSD 0.0 16:30722159-30722159 G>A 1.0 3919 MELANOMA - - - - SRCAP uc002dze.1,p.E407K|uc021tgn.1,p.E407K|uc002dzg.1,p.E264K|ENST00000395059,p.E407K|ENST00000262518,p.E407K|ENST00000344771,p.E407K|NM_006662,p.E407K|ENST00000380361,p.E388K retained_intron, protein_coding, nonsense_mediated_decay uc021tgn.1 nonsynonymous SNV exon9 c.G1219A p.E407K HPDEDDEEFTANEEEAEDEEDTIAA HPDEDDEEFTANKEEAEDEEDTIAA 9.0 7.0 - - 3919_16:30722159-30722159 G>A_HPDEDDEEFTANKEEAEDEEDTIAA 0.0 3:113377299-113377299 G>A 1.0 3716 MELANOMA - - - - KIAA2018 ENST00000316407,p.S1077F|uc003eal.3,p.S1021F|NM_001009899,p.S1077F|uc003eam.3,p.S1077F|ENST00000478658,p.S1077F retained_intron, protein_coding uc003eam.3 nonsynonymous SNV exon7 c.C3230T p.S1077F HSCLPDQEVINGSLINGRQADSPMS HSCLPDQEVINGFLINGRQADSPMS 6.0 1.0 - - 3716_3:113377299-113377299 G>A_HSCLPDQEVINGFLINGRQADSPMS 0.0 1:233161005-233161005 C>T 0.0 3713 MELANOMA - - - - PCNXL2 ENST00000344698,p.E150K|uc001hvl.2,p.E1498K|uc001hvk.1,p.E150K|NM_014801,p.E1498K|ENST00000258229,p.E1498K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001hvl.2 nonsynonymous SNV exon26 c.G4492A p.E1498K CNAAFHLRWLTWEITQTQYILEGYS CNAAFHLRWLTWKITQTQYILEGYS 3.0 1.0 - - 3713_1:233161005-233161005 C>T_CNAAFHLRWLTWKITQTQYILEGYS 0.0 4:20599984-20599984 G>A 1.0 3713 MELANOMA - - - - SLIT2 uc003gps.1,p.D1212N|ENST00000504154,p.D1220N|ENST00000503837,p.D1216N|NM_001289136,p.D1212N|ENST00000503823,p.D1212N|ENST00000273739,p.D1233N|NM_001289135,p.D1216N|uc003gpr.1,p.D1220N|NM_004787,p.D1220N retained_intron, protein_coding, processed_transcript uc003gps.1 nonsynonymous SNV exon32 c.G3634A p.D1212N VELYRGRVRASYDTGSHPASAIYSV VELYRGRVRASYNTGSHPASAIYSV 3.0 10.0 - - 3713_4:20599984-20599984 G>A_VELYRGRVRASYNTGSHPASAIYSV 0.0 1:190067903-190067903 T>A 0.0 4258 ENDOMETRIAL - - - - BRINP3 ENST00000367462,p.S516C|ENST00000534846,p.S414C|uc010pot.1,p.S414C|NM_199051,p.S516C|uc001gse.1,p.S516C protein_coding, processed_transcript uc010pot.1 nonsynonymous SNV exon7 c.A1240T p.S414C TDRRIEVHAIFISNDMRLNSWFDPS TDRRIEVHAIFICNDMRLNSWFDPS 1.0 7.0 - - 4258_1:190067903-190067903 T>A_TDRRIEVHAIFICNDMRLNSWFDPS 0.0 1:11861304-11861304 C>A 1.0 4287 COLORECTAL - - - - MTHFR uc001atb.1,p.C153F|ENST00000376592,p.C130F|ENST00000418034,p.C130F|ENST00000376585,p.C171F|ENST00000376583,p.C171F|uc001atc.2,p.C130F|NM_005957,p.C130F|ENST00000376590,p.C130F protein_coding uc001atc.2 nonsynonymous SNV exon3 c.G389T p.C130F NYCGLETILHMTCCRQRLEEITGHL NYCGLETILHMTFCRQRLEEITGHL 5.0 6.0 - - 4287_1:11861304-11861304 C>A_NYCGLETILHMTFCRQRLEEITGHL 0.0 1:150900253-150900253 G>C 1.0 3775 CERVICAL - - - - SETDB1 ENST00000498193,p.E21D|ENST00000423081,p.E35D|ENST00000368963,p.E21D|uc001evv.2,p.E21D|ENST00000368964,p.E21D|ENST00000525956,p.E21D|ENST00000368969,p.E21D|ENST00000368962,p.E21D|NM_001243491,p.E21D|uc001evw.4,p.E21D|uc009wmf.2,p.E21D|NM_001145415,p.E21D|ENST00000534805,p.E21D|uc001evu.2,p.E21D|ENST00000271640,p.E21D|ENST00000448029,p.E21D|NM_012432,p.E21D|uc009wmg.2,p.E21D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009wmg.2 nonsynonymous SNV exon2 c.G63C p.E21D GLDAATATVESEEIAELQQAVVEEL GLDAATATVESEDIAELQQAVVEEL 9.0 8.0 CD8 - 3775_1:150900253-150900253 G>C_GLDAATATVESEDIAELQQAVVEEL 1.0 6:135239743-135239743 G>A 1.0 3678 MELANOMA - - - - ALDH8A1 ENST00000460753,p.S110F|NM_170771,p.S371F|ENST00000367845,p.S371F|uc003qex.3,p.S371F|NM_001193480,p.S375F|ENST00000265605,p.S425F|NM_022568,p.S425F|uc010kgh.3,p.S203F|uc011ecx.2,p.S375F|uc003qew.3,p.S425F|ENST00000367847,p.S375F protein_coding, nonsense_mediated_decay uc011ecx.2 nonsynonymous SNV exon6 c.C1124T p.S375F NNVKYGLAATVWSSNVGRVHRVAKK NNVKYGLAATVWFSNVGRVHRVAKK 6.0 3.0 - - 3678_6:135239743-135239743 G>A_NNVKYGLAATVWFSNVGRVHRVAKK 0.0 10:127504783-127504783 G>A 1.0 3466 MELANOMA - - - - UROS ENST00000368778,p.S37L|ENST00000368786,p.S37L|uc001lix.4,p.S37L|ENST00000368797,p.S37L|NM_000375,p.S37L|ENST00000368774,p.S37L|uc001liw.4,p.S37L protein_coding, processed_transcript uc001lix.4 nonsynonymous SNV exon3 c.C110T p.S37L LYGLEATLIPVLSFEFLSLPSFSEK LYGLEATLIPVLLFEFLSLPSFSEK 6.0 5.0 - - 3466_10:127504783-127504783 G>A_LYGLEATLIPVLLFEFLSLPSFSEK 0.0 13:36180669-36180669 C>T 1.0 3998 MELANOMA - - - 2 NBEA uc010teg.1,p.P261L|ENST00000379939,p.P2465L|ENST00000400445,p.P2468L|uc010tef.2,p.P261L|NM_001204197,p.P261L|ENST00000537702,p.P261L|uc021rid.1,p.P2468L|ENST00000379922,p.P25L|uc010abi.3,p.P1124L|ENST00000540320,p.P2468L|NM_015678,p.P2468L|ENST00000310336,p.P2468L|uc010tee.1,p.P261L|uc001uvd.3,p.P25L protein_coding, processed_transcript uc021rid.1 nonsynonymous SNV exon48 c.C7403T p.P2468L REDEVVVNDVDLPPWAKKPEDFVRI REDEVVVNDVDLLPWAKKPEDFVRI 6.0 6.0 - - 3998_13:36180669-36180669 C>T_REDEVVVNDVDLLPWAKKPEDFVRI 0.0 20:57428917-57428917 C>T 0.0 4245 COLORECTAL - - ID=COSM2764833;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 1 GNAS NM_001077490,p.P137L|ENST00000306120,p.P136L retained_intron, protein_coding, processed_transcript NM_001077490 nonsynonymous SNV exon1 c.C410T p.P137L EAQVLQGSPELLPRSPKPSGLQRLA EAQVLQGSPELLLRSPKPSGLQRLA 10.0 6.0 - - 4245_20:57428917-57428917 C>T_EAQVLQGSPELLLRSPKPSGLQRLA 0.0 3:100014010-100014010 C>A 1.0 2359 MELANOMA - - - - TBC1D23 uc003dts.4,p.P227Q|NM_018309,p.P227Q|ENST00000394144,p.P227Q|NM_001199198,p.P227Q|ENST00000344949,p.P227Q|uc003dtt.4,p.P227Q|ENST00000475134,p.P90Q retained_intron, protein_coding, processed_transcript uc003dtt.4 nonsynonymous SNV exon6 c.C680A p.P227Q QAIWDGYLQQADPFFIYFLMLIILV QAIWDGYLQQADQFFIYFLMLIILV 8.0 4.0 - - 2359_3:100014010-100014010 C>A_QAIWDGYLQQADQFFIYFLMLIILV 0.0 4:183675710-183675710 C>T 0.0 4259 COLORECTAL - - ID=COSM1053548;OCCURENCE=1(endometrium) - TENM3 ENST00000406950,p.A1397V|uc003ive.1,p.A810V|NM_001080477,p.A1397V|uc003ivd.1,p.A1397V|ENST00000511685,p.A1397V retained_intron, protein_coding, processed_transcript uc003ive.1 nonsynonymous SNV exon15 c.C2429T p.A810V QVPGVEYPVGKHAVQTTLESATAIA QVPGVEYPVGKHVVQTTLESATAIA 4.0 9.0 - - 4259_4:183675710-183675710 C>T_QVPGVEYPVGKHVVQTTLESATAIA 0.0 21:46020525-46020525 G>T 0.0 4196 COLORECTAL - - - - KRTAP10-7 uc002zfn.4,p.A2S|ENST00000380102,p.A2S|NM_198689,p.A2S protein_coding uc002zfn.4 nonsynonymous SNV exon1 c.G4T p.A2S MAASTMSVCSSDLS MSASTMSVCSSDLS 3.0 5.0 - - 4196_21:46020525-46020525 G>T_MSASTMSVCSSDLS 0.0 8:6302371-6302371 C>G 0.0 3713 MELANOMA - - - - MCPH1 uc011kwl.2,p.S328R|NM_024596,p.S376R|ENST00000344683,p.S376R|uc003wqh.3,p.S376R|ENST00000519480,p.S376R|NM_001172574,p.S376R|uc003wqi.3,p.S376R|ENST00000522905,p.S328R|NM_001172575,p.S328R protein_coding, processed_transcript uc011kwl.2 nonsynonymous SNV exon7 c.C984G p.S328R HSPPKEKCKRKRSTRRSIMPRLQLC HSPPKEKCKRKRRTRRSIMPRLQLC 6.0 2.0 - - 3713_8:6302371-6302371 C>G_HSPPKEKCKRKRRTRRSIMPRLQLC 0.0 16:86601315-86601315 C>T 0.0 2591 MELANOMA - - - - FOXC2 ENST00000320354,p.S125L|uc002fjq.3,p.S125L|NM_005251,p.S125L protein_coding uc002fjq.3 nonsynonymous SNV exon1 c.C374T p.S125L KQGWQNSIRHNLSLNECFVKVPRDD KQGWQNSIRHNLLLNECFVKVPRDD 1.0 4.0 - - 2591_16:86601315-86601315 C>T_KQGWQNSIRHNLLLNECFVKVPRDD 0.0 11:108381298-108381298 G>T 1.0 4252 COLORECTAL - - - - EXPH5 ENST00000525344,p.P1639T|ENST00000265843,p.P1646T|uc001pkk.3,p.P1646T|ENST00000526312,p.P1570T|uc010rvz.2,p.P1490T|ENST00000428840,p.P1570T|NM_015065,p.P1646T|uc010rvy.2,p.P1458T|ENST00000443411,p.P1458T protein_coding, processed_transcript uc010rvz.2 nonsynonymous SNV exon4 c.C4468A p.P1490T LGTVECNPLFPEPTPKSAESIGESR LGTVECNPLFPETTPKSAESIGESR 6.0 9.0 - - 4252_11:108381298-108381298 G>T_LGTVECNPLFPETTPKSAESIGESR 0.0 6:99998892-99998892 C>G 1.0 4252 COLORECTAL - - - 2 CCNC NM_001013399,p.E54Q|ENST00000523799,p.E54Q|ENST00000520371,p.E139Q|ENST00000369220,p.E139Q|uc003pqd.3,p.E54Q|ENST00000518714,p.E139Q|ENST00000326298,p.E139Q|uc010kcs.3,p.E139Q|ENST00000523985,p.E54Q|ENST00000486428,p.E85Q|uc011eah.2,p.E54Q|NM_005190,p.E139Q|ENST00000524049,p.E54Q|ENST00000520429,p.E139Q|uc003pqe.3,p.E139Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011eah.2 nonsynonymous SNV exon6 c.G160C p.E54Q EFPYRMNHILECEFYLLELMDCCLI EFPYRMNHILECQFYLLELMDCCLI 9.0 6.0 - - 4252_6:99998892-99998892 C>G_EFPYRMNHILECQFYLLELMDCCLI 0.0 9:125281429-125281429 G>A 0.0 3795 MELANOMA - - - - OR1J4 NM_001004452,p.E4K|uc011lyw.2,p.E4K|ENST00000340750,p.E4K protein_coding uc011lyw.2 nonsynonymous SNV exon1 c.G10A p.E4K MKRENQSSVSEFLLLD MKRKNQSSVSEFLLLD 1.0 9.0 - - 3795_9:125281429-125281429 G>A_MKRKNQSSVSEFLLLD 0.0 7:6071139-6071139 G>C 1.0 4326 BREAST - - - - ANKRD61 ENST00000409061,p.E45Q|NM_001271700,p.E45Q|uc031swn.1,p.E45Q protein_coding uc031swn.1 nonsynonymous SNV exon1 c.G133C p.E45Q YEAIMREDCTTIEVLLRNHPVNQPI YEAIMREDCTTIQVLLRNHPVNQPI 3.0 2.0 - - 4326_7:6071139-6071139 G>C_YEAIMREDCTTIQVLLRNHPVNQPI 0.0 2:185800571-185800571 G>A 1.0 4000 MELANOMA - - - - ZNF804A ENST00000302277,p.E150K|NM_194250,p.E150K|uc002uph.3,p.E150K protein_coding uc002uph.3 nonsynonymous SNV exon4 c.G448A p.E150K KSTTVTVRENCNEISQRVVVDSVNN KSTTVTVRENCNKISQRVVVDSVNN 4.0 1.0 - - 4000_2:185800571-185800571 G>A_KSTTVTVRENCNKISQRVVVDSVNN 0.0 X:129200784-129200784 C>T 1.0 3713 MELANOMA - - - 1 ELF4 NM_001421,p.G635E|uc004eve.4,p.G635E|uc004evd.4,p.G635E|ENST00000335997,p.G635E|NM_001127197,p.G635E|ENST00000308167,p.G635E protein_coding uc004eve.4 nonsynonymous SNV exon9 c.G1904A p.G635E SLLMAEPSVTTSGSLLTRSPTPAPF SLLMAEPSVTTSESLLTRSPTPAPF 4.0 8.0 - - 3713_X:129200784-129200784 C>T_SLLMAEPSVTTSESLLTRSPTPAPF 0.0 22:25023444-25023444 G>T 1.0 4278 COLORECTAL - - ID=COSM1130480;OCCURENCE=1(prostate) - GGT1 uc003aau.2,p.A356S|ENST00000400383,p.A356S|uc003aav.2,p.A356S|uc003aax.2,p.A356S|NM_001288833,p.A356S|NM_013430,p.A356S|ENST00000400382,p.A356S|uc003aan.1,p.A356S|NM_013421,p.A356S|uc003aat.1,p.A356S|ENST00000406383,p.A356S|ENST00000412658,p.A356S|uc003aas.1,p.A356S|ENST00000400380,p.A356S|ENST00000248923,p.A356S|uc003aaw.2,p.A356S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003aax.2 nonsynonymous SNV exon12 c.G1066T p.A356S NMTSEFFAAQLRAQISDDTTHPISY NMTSEFFAAQLRSQISDDTTHPISY 8.0 3.0 - - 4278_22:25023444-25023444 G>T_NMTSEFFAAQLRSQISDDTTHPISY 0.0 14:21992276-21992276 G>A 0.0 4134 NSCLC - - - - SALL2 uc001wbe.3,p.P529L|ENST00000450879,p.P392L|NM_005407,p.P529L|uc010tly.2,p.P527L|NM_001291447,p.P392L|uc010tma.1,p.P394L|NM_001291446,p.P394L|ENST00000327430,p.P529L|uc010tlz.1,p.P392L protein_coding uc010tma.1 nonsynonymous SNV exon3 c.C1181T p.P394L VEPKNKADENTPPGSEGSAISGVAE VEPKNKADENTPLGSEGSAISGVAE 3.0 7.0 - - 4134_14:21992276-21992276 G>A_VEPKNKADENTPLGSEGSAISGVAE 0.0 1:201170922-201170922 G>A 0.0 3466 MELANOMA - - - - IGFN1 uc001gwc.3,p.D237N|NM_001164586,p.D237N|ENST00000451870,p.D237N|ENST00000335211,p.D237N|ENST00000437879,p.D237N retained_intron, protein_coding, nonsense_mediated_decay uc001gwc.3 nonsynonymous SNV exon9 c.G709A p.D237N TKDGNAKFDLELDLKDSQSKIYLYK TKDGNAKFDLELNLKDSQSKIYLYK 3.0 6.0 - - 3466_1:201170922-201170922 G>A_TKDGNAKFDLELNLKDSQSKIYLYK 0.0 14:38275666-38275666 C>T 0.0 2591 MELANOMA - - - 1 FOXA1,SSTR1 uc001wuj.3,p.S152L|ENST00000478811,p.S153L|ENST00000553443,p.S1422L|ENST00000382320,p.S136L protein_coding, processed_transcript, nonsense_mediated_decay uc001wuj.3 nonsynonymous SNV exon5 c.C455T p.S152L RGLCKVKLHKDSSILDFNRAITLNP RGLCKVKLHKDSLILDFNRAITLNP 1.0 7.0 - - 2591_14:38275666-38275666 C>T_RGLCKVKLHKDSLILDFNRAITLNP 0.0 16:81077824-81077824 T>G 1.0 3466 MELANOMA - - - - ATMIN uc010vnn.1,p.M345R|uc002fga.2,p.M416R|ENST00000299575,p.M574R|uc002fgb.1,p.M416R|ENST00000566488,p.M418R|NM_001300728,p.M418R|ENST00000564241,p.M418R|uc002ffz.1,p.M574R|NM_015251,p.M574R retained_intron, protein_coding, processed_transcript uc010vnn.1 nonsynonymous SNV exon3 c.T1034G p.M345R SAPIINFSAQNSMLPSQNMTDNQTQ SAPIINFSAQNSRLPSQNMTDNQTQ 8.0 2.0 - - 3466_16:81077824-81077824 T>G_SAPIINFSAQNSRLPSQNMTDNQTQ 0.0 7:88963897-88963897 C>T 0.0 4326 BREAST - - ID=COSM1092764;OCCURENCE=1(endometrium) - ZNF804B uc011khi.2,p.P534L|ENST00000333190,p.P534L|NM_181646,p.P534L protein_coding uc011khi.2 nonsynonymous SNV exon4 c.C1601T p.P534L DQQKLIQEDYQYPKPKTMIANPDWE DQQKLIQEDYQYLKPKTMIANPDWE 2.0 1.0 - - 4326_7:88963897-88963897 C>T_DQQKLIQEDYQYLKPKTMIANPDWE 0.0 10:115595008-115595008 G>T 1.0 3784 MELANOMA - - - - DCLRE1A NM_014881,p.P1009H|uc001law.3,p.P1009H|uc031pxf.1,p.P1009H|ENST00000361384,p.P1009H|NM_001271816,p.P1009H|ENST00000369305,p.P1009H protein_coding, processed_transcript uc031pxf.1 nonsynonymous SNV exon10 c.C3026A p.P1009H YLEMKRFVQWLKPQKIIPTVNVGTW YLEMKRFVQWLKHQKIIPTVNVGTW 5.0 10.0 - - 3784_10:115595008-115595008 G>T_YLEMKRFVQWLKHQKIIPTVNVGTW 0.0 21:38525460-38525460 C>T 1.0 2369 MELANOMA - - - - TTC3 uc011aed.1,p.R565C|uc010gnf.3,p.R640C|uc002yvz.3,p.R875C|uc011aee.1,p.R565C|NM_001001894,p.R875C|uc002ywb.3,p.R875C|ENST00000354749,p.R875C|ENST00000540756,p.R565C|ENST00000438055,p.R857C|uc002ywa.3,p.R875C|ENST00000399017,p.R875C|ENST00000355666,p.R875C|uc002ywc.3,p.R565C|NM_003316,p.R875C|ENST00000418766,p.R875C retained_intron, protein_coding, processed_transcript uc011aee.1 nonsynonymous SNV exon19 c.C1693T p.R565C RNFLNEAVDYVIRHLIQENNRVKTR RNFLNEAVDYVICHLIQENNRVKTR 10.0 5.0 - - 2369_21:38525460-38525460 C>T_RNFLNEAVDYVICHLIQENNRVKTR 0.0 X:151336822-151336822 T>G 0.0 4078 GASTRIC - - ID=COSM611573;OCCURENCE=1(lung) - GABRA3 ENST00000535043,p.S453R|NM_000808,p.S453R|ENST00000370311,p.S453R|uc010ntk.1,p.S453R|ENST00000370314,p.S453R protein_coding, processed_transcript uc010ntk.1 nonsynonymous SNV exon10 c.A1357C p.S453R DSPTETKTYNSVSKVDKISRIIFPV DSPTETKTYNSVRKVDKISRIIFPV 1.0 10.0 - - 4078_X:151336822-151336822 T>G_DSPTETKTYNSVRKVDKISRIIFPV 0.0 7:55227924-55227924 C>T 1.0 4329 COLORECTAL - - - 1 EGFR uc010kzg.2,p.S419L|NM_201284,p.S464L|uc022adm.1,p.S464L|uc003tqi.3,p.S464L|ENST00000342916,p.S464L|NM_201282,p.S464L|NM_005228,p.S464L|uc003tqk.3,p.S464L|ENST00000275493,p.S464L|uc011kco.2,p.S411L|ENST00000344576,p.S464L|ENST00000454757,p.S411L|uc022adn.1,p.S419L|ENST00000442591,p.S464L|uc003tqj.3,p.S464L|ENST00000455089,p.S419L retained_intron, protein_coding, processed_transcript uc022adn.1 nonsynonymous SNV exon11 c.C1256T p.S419L SLKEISDGDVIISGNKNLCYANTIN SLKEISDGDVIILGNKNLCYANTIN 9.0 2.0 - - 4329_7:55227924-55227924 C>T_SLKEISDGDVIILGNKNLCYANTIN 0.0 8:144993982-144993982 G>A 1.0 4266 COLORECTAL - - - - PLEC NM_201380,p.T3473M|ENST00000398774,p.T3304M|ENST00000357649,p.T3340M|NM_201383,p.T3340M|ENST00000354589,p.T3336M|ENST00000354958,p.T3314M|NM_201378,p.T3322M|uc003zad.2,p.T3336M|uc003zaj.2,p.T3363M|NM_201382,p.T3336M|ENST00000356346,p.T3322M|ENST00000345136,p.T3336M|uc003zab.1,p.T3336M|ENST00000322810,p.T3473M|NM_201379,p.T3314M|uc003zah.2,p.T3322M|NM_201381,p.T3304M|ENST00000527096,p.T3359M|NM_000445,p.T3363M|NM_201384,p.T3336M|ENST00000436759,p.T3363M|uc003zae.1,p.T3304M|uc003zaf.1,p.T3473M|uc003zac.1,p.T3340M|uc003zag.1,p.T3314M retained_intron, protein_coding uc003zaj.2 nonsynonymous SNV exon33 c.C10088T p.T3363M SRAQFEQLKDGKTTVKDLSELGSVR SRAQFEQLKDGKMTVKDLSELGSVR 10.0 2.0 - - 4266_8:144993982-144993982 G>A_SRAQFEQLKDGKMTVKDLSELGSVR 0.0 17:11461593-11461593 C>A 0.0 4213 COLORECTAL - - - - SHISA6 ENST00000441885,p.T543K|uc002gnc.2,p.T543K|NM_001173461,p.T492K|ENST00000432116,p.T524K|uc002gna.4,p.T492K|uc010con.3,p.T222K|NM_001173462,p.T524K|uc010com.3,p.T524K|ENST00000409168,p.T492K|NM_207386,p.T543K retained_intron, protein_coding uc010con.3 nonsynonymous SNV exon2 c.C665A p.T222K QLHYIPGHHTCYTASKTEVTV QLHYIPGHHTCYKASKTEVTV 3.0 6.0 - - 4213_17:11461593-11461593 C>A_QLHYIPGHHTCYKASKTEVTV 0.0 7:18687612-18687612 C>T 0.0 4240 BREAST - - - - HDAC9 uc011jye.2,p.L383F|uc003suh.3,p.L411F|uc003sue.3,p.L411F|ENST00000432645,p.L411F|NM_001204145,p.L367F|ENST00000428307,p.L367F|NM_178425,p.L414F|uc010kud.2,p.L414F|NM_001204148,p.L383F|NM_001204144,p.L409F|uc003sud.2,p.L411F|NM_001204147,p.L334F|uc011jyb.2,p.L367F|ENST00000524023,p.L334F|ENST00000406072,p.L398F|uc010kue.1,p.L154F|uc003sua.1,p.L389F|NM_058176,p.L411F|uc011jyd.2,p.L411F|uc011jyc.2,p.L370F|uc003suf.2,p.L442F|ENST00000441542,p.L414F|ENST00000401921,p.L370F|NM_014707,p.L411F|ENST00000417496,p.L409F|uc003suj.3,p.L370F|NM_001204146,p.L370F|uc011jya.2,p.L409F|NM_178423,p.L411F|ENST00000405010,p.L411F|ENST00000456174,p.L383F|uc003sui.3,p.L414F|ENST00000406451,p.L411F|uc011jyf.2,p.L334F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011jyf.2 nonsynonymous SNV exon8 c.C1000T p.L334F LLLKEQMRQQKLLVAGGVPLHPQSP LLLKEQMRQQKLFVAGGVPLHPQSP 4.0 10.0 - - 4240_7:18687612-18687612 C>T_LLLKEQMRQQKLFVAGGVPLHPQSP 0.0 2:31010119-31010119 G>A 1.0 4196 COLORECTAL - - - - CAPN13 ENST00000458085,p.R25W|ENST00000295055,p.R25W|uc021vfm.1,p.R25W|ENST00000534090,p.R25W|NM_144575,p.R25W|ENST00000485248,p.R25W|uc002rnp.1,p.R25W|uc021vfn.1,p.R25W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021vfn.1 nonsynonymous SNV exon1 c.C73T p.R25W IIKFKDQDFTTLRDHCLSMGRTFKD IIKFKDQDFTTLWDHCLSMGRTFKD 7.0 10.0 - - 4196_2:31010119-31010119 G>A_IIKFKDQDFTTLWDHCLSMGRTFKD 0.0 7:27839678-27839678 T>G 1.0 4252 COLORECTAL - - - - TAX1BP1 ENST00000433216,p.L421R|NM_001079864,p.L578R|uc003szk.3,p.L578R|uc003szl.3,p.L578R|uc011jzp.2,p.L421R|ENST00000396319,p.L578R|NM_001206902,p.L421R|ENST00000265393,p.L578R|uc011jzo.2,p.L578R|ENST00000543117,p.L578R|NM_001206901,p.L578R|NM_006024,p.L578R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011jzp.2 nonsynonymous SNV exon12 c.T1262G p.L421R WKEQVKIAENVKLELAEVQDNYKEL WKEQVKIAENVKRELAEVQDNYKEL 10.0 10.0 - - 4252_7:27839678-27839678 T>G_WKEQVKIAENVKRELAEVQDNYKEL 0.0 5:79331430-79331430 G>A 0.0 4335 COLORECTAL - - - - THBS4 uc021yaw.1,p.A24T|NM_003248,p.A24T|ENST00000350881,p.A24T protein_coding, processed_transcript uc021yaw.1 nonsynonymous SNV exon1 c.G70A p.A24T LHLVLQRWLAAGAQATPQVFDLLPS LHLVLQRWLAAGTQATPQVFDLLPS 5.0 7.0 - - 4335_5:79331430-79331430 G>A_LHLVLQRWLAAGTQATPQVFDLLPS 0.0 11:117784576-117784576 G>A 1.0 4196 COLORECTAL - - - - TMPRSS13 NM_001077263,p.S242F|uc001pru.2,p.S242F|uc001prs.2,p.S242F|uc021qrc.1,p.S242F|ENST00000528626,p.S207F|ENST00000430170,p.S242F|ENST00000524993,p.S242F|ENST00000526090,p.S242F|ENST00000445164,p.S242F|NM_001206789,p.S207F|NM_001244995,p.S242F|NM_001206790,p.S242F|uc009yzr.2,p.S207F retained_intron, protein_coding, nonsense_mediated_decay uc021qrc.1 nonsynonymous SNV exon5 c.C725T p.S242F DWDKSLLKIYSGSSHQWLPICSSNW DWDKSLLKIYSGFSHQWLPICSSNW 8.0 8.0 - - 4196_11:117784576-117784576 G>A_DWDKSLLKIYSGFSHQWLPICSSNW 0.0 20:9402041-9402041 G>A 1.0 3713 MELANOMA - - ID=COSM1029364;OCCURENCE=2(endometrium) - PLCB4 ENST00000378493,p.R739Q|ENST00000378473,p.R751Q|uc021wal.1,p.R739Q|uc010gbx.3,p.R751Q|ENST00000414679,p.R751Q|uc002wnh.3,p.R586Q|ENST00000378501,p.R739Q|ENST00000334005,p.R739Q|uc010gbw.1,p.R739Q|NM_001172646,p.R751Q|NM_182797,p.R739Q|NM_000933,p.R739Q|ENST00000278655,p.R739Q|uc021wam.1,p.R739Q protein_coding, processed_transcript uc021wam.1 nonsynonymous SNV exon23 c.G2216A p.R739Q YGLPTDTIRKEFRTRMVMNNGLNPV YGLPTDTIRKEFQTRMVMNNGLNPV 1.0 9.0 - - 3713_20:9402041-9402041 G>A_YGLPTDTIRKEFQTRMVMNNGLNPV 0.0 3:184021823-184021823 T>A 1.0 3879 MELANOMA - - - - PSMD2 NM_001278708,p.L341H|NM_001278709,p.L312H|uc003fnn.1,p.L471H|NM_002808,p.L471H|uc011brk.1,p.L341H|ENST00000435761,p.L312H|uc011brj.1,p.L312H|ENST00000439383,p.L341H|ENST00000310118,p.L471H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011brk.1 nonsynonymous SNV exon9 c.T1022A p.L341H CDPALALLSDYVLHNSNTMRLGSIF CDPALALLSDYVHHNSNTMRLGSIF 9.0 10.0 - - 3879_3:184021823-184021823 T>A_CDPALALLSDYVHHNSNTMRLGSIF 0.0 6:69758172-69758172 T>C 0.0 4213 COLORECTAL - - - - BAI3 ENST00000370598,p.S735P|uc003pev.4,p.S735P|NM_001704,p.S735P|uc010kak.3,p.S735P protein_coding uc010kak.3 nonsynonymous SNV exon13 c.T2203C p.S735P KGRKGMVDWARNSEDRVVIPKSIFT KGRKGMVDWARNPEDRVVIPKSIFT 4.0 5.0 - - 4213_6:69758172-69758172 T>C_KGRKGMVDWARNPEDRVVIPKSIFT 0.0 17:7578550-7578550 G>A 1.0 3466 MELANOMA - - ID=COSM216414,COSM3378368,COSM44226,COSM216412,COSM216413,COSM1637542;OCCURENCE=5(ovary),2(small_intestine),6(skin),3(large_intestine),1(biliary_tract),1(urinary_tract),3(pancreas),1(stomach),3(central_nervous_system),2(oesophagus),2(upper_aerodigestive_tract),1(bone),1(thyroid),1(lung) 1 TP53 NM_001126113,p.S127F|uc002gij.3,p.S88F|NM_001276761,p.S88F|ENST00000413465,p.S127F|NM_001276760,p.S88F|ENST00000508793,p.S127F|uc002gih.3,p.S127F|NM_001276695,p.S88F|ENST00000455263,p.S127F|uc031qyq.1,p.S88F|ENST00000269305,p.S127F|ENST00000359597,p.S127F|NM_001126112,p.S127F|ENST00000420246,p.S127F|NM_001126118,p.S88F|NM_001276696,p.S88F|NM_001126114,p.S127F|uc010vug.3,p.S88F|uc002gig.1,p.S127F|NM_000546,p.S127F|ENST00000445888,p.S127F retained_intron, protein_coding, processed_transcript uc031qyq.1 nonsynonymous SNV exon4 c.C263T p.S88F HSGTAKSVTCTYSPALNKMFCQLAK HSGTAKSVTCTYFPALNKMFCQLAK 9.0 9.0 - - 3466_17:7578550-7578550 G>A_HSGTAKSVTCTYFPALNKMFCQLAK 0.0 9:135073594-135073594 A>T 0.0 4329 COLORECTAL - - - - NTNG2 ENST00000393228,p.E152V|ENST00000360670,p.E152V|NM_032536,p.E152V|uc004cbh.2,p.E152V|ENST00000393229,p.E152V|ENST00000372179,p.E152V protein_coding, processed_transcript uc004cbh.2 nonsynonymous SNV exon3 c.A455T p.E152V TFEYGRPTVMVLEKSLDNGRTWQPY TFEYGRPTVMVLVKSLDNGRTWQPY 3.0 3.0 - - 4329_9:135073594-135073594 A>T_TFEYGRPTVMVLVKSLDNGRTWQPY 0.0 9:79520866-79520866 A>- 0.0 4081 COLORECTAL - - - - PRUNE2 NM_015225,p.L5fs|ENST00000376713,p.L5fs|uc010mpk.3,p.L5fs|ENST00000376718,p.L5fs|uc004akn.3,p.L5fs protein_coding, processed_transcript uc010mpk.3 frameshift deletion exon1 c.14delT p.L5fs MEEFLQRAKSKLNRSKR MEEFCNAPNLN 8.0 4.0 - - 4081_9:79520866-79520866 A>-_MEEFCNAPNLN 0.0 8:98943714-98943714 G>A 1.0 3309 MELANOMA - - - - MATN2 uc003yic.3,p.E226K|uc010mbh.1,p.E226K|uc003yie.1,p.E226K|ENST00000524308,p.E226K|uc010mbi.1,p.E100K|uc003yib.1,p.E226K|NM_030583,p.E226K|ENST00000521689,p.E226K|ENST00000520016,p.E226K|uc003yid.3,p.E226K|NM_002380,p.E226K|ENST00000254898,p.E226K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010mbi.1 nonsynonymous SNV exon1 c.G298A p.E100K DHVFLVANFSQIETLTSVFQKKLCT DHVFLVANFSQIKTLTSVFQKKLCT 6.0 5.0 CD8 - 3309_8:98943714-98943714 G>A_DHVFLVANFSQIKTLTSVFQKKLCT 1.0 2:238274357-238274357 G>A 0.0 4284 COLORECTAL - - ID=COSM3391594;OCCURENCE=1(pancreas) - COL6A3 ENST00000409809,p.S1735L|uc002vwo.2,p.S1735L|ENST00000347401,p.S1740L|uc010znj.1,p.S1334L|uc002vwl.2,p.S1941L|NM_057166,p.S1334L|ENST00000353578,p.S1735L|ENST00000346358,p.S1741L|ENST00000295550,p.S1941L|ENST00000472056,p.S1334L|NM_057167,p.S1735L|NM_004369,p.S1941L retained_intron, protein_coding, processed_transcript uc010znj.1 nonsynonymous SNV exon9 c.C4001T p.S1334L TLKVYLNKFRQSSPDSVKVVIHFTD TLKVYLNKFRQSLPDSVKVVIHFTD 10.0 8.0 - - 4284_2:238274357-238274357 G>A_TLKVYLNKFRQSLPDSVKVVIHFTD 0.0 20:7982177-7982177 G>A 0.0 4158 COLORECTAL - - - - TMX4 uc002wmx.1,p.R102C|NM_021156,p.R102C|ENST00000246024,p.R102C protein_coding, processed_transcript, nonsense_mediated_decay uc002wmx.1 nonsynonymous SNV exon3 c.C304T p.R102C KVDVIQEPGLSGRFFVTTLPAFFHA KVDVIQEPGLSGCFFVTTLPAFFHA 7.0 10.0 - - 4158_20:7982177-7982177 G>A_KVDVIQEPGLSGCFFVTTLPAFFHA 0.0 8:75757638-75757638 C>T 0.0 4316 COLORECTAL - - ID=COSM1101600;OCCURENCE=1(endometrium),1(ovary) - PI15 uc003yal.3,p.R183W|uc003yam.3,p.R183W|NM_015886,p.R183W|ENST00000260113,p.R183W|ENST00000523773,p.R183W protein_coding uc003yam.3 nonsynonymous SNV exon4 c.C547T p.R183W THYTQMVWATSNRIGCAIHTCQNMN THYTQMVWATSNWIGCAIHTCQNMN 2.0 9.0 - - 4316_8:75757638-75757638 C>T_THYTQMVWATSNWIGCAIHTCQNMN 0.0 20:585303-585303 G>A 0.0 4245 COLORECTAL - - - - TCF15 NM_004609,p.R178C|ENST00000246080,p.R178C|uc002wdz.3,p.R178C protein_coding uc002wdz.3 nonsynonymous SNV exon2 c.C532T p.R178C TFCLSNQRKGGGRRDLGGSCLKVRG TFCLSNQRKGGGCRDLGGSCLKVRG 4.0 3.0 - - 4245_20:585303-585303 G>A_TFCLSNQRKGGGCRDLGGSCLKVRG 0.0 3:440025-440025 T>A 0.0 4278 COLORECTAL - - - - CHL1 uc003bou.3,p.D1054E|ENST00000256509,p.D1070E|uc003bot.3,p.D1070E|NM_006614,p.D1070E|NM_001253387,p.D1054E|uc003bow.2,p.D1054E|ENST00000397491,p.D1054E protein_coding, processed_transcript, nonsense_mediated_decay uc003bow.2 nonsynonymous SNV exon24 c.T3162A p.D1054E EHIVRLMTKNWGDNDSIFQDVIETR EHIVRLMTKNWGENDSIFQDVIETR 7.0 10.0 - - 4278_3:440025-440025 T>A_EHIVRLMTKNWGENDSIFQDVIETR 0.0 X:84526097-84526097 C>T 0.0 3903 MELANOMA - - - - ZNF711 uc004eeo.3,p.P517S|ENST00000276123,p.P517S|ENST00000360700,p.P563S|uc004eep.3,p.P517S|uc004eeq.3,p.P563S|ENST00000373165,p.P517S|ENST00000542798,p.P359S|uc011mqy.1,p.P116S|ENST00000395402,p.P525S|NM_021998,p.P517S protein_coding uc011mqy.1 nonsynonymous SNV exon3 c.C346T p.P116S HVCVECGKGFRHPSELKKHMRTHTG HVCVECGKGFRHSSELKKHMRTHTG 2.0 10.0 - - 3903_X:84526097-84526097 C>T_HVCVECGKGFRHSSELKKHMRTHTG 0.0 12:33560007-33560007 C>T 0.0 3903 MELANOMA - - - - SYT10 ENST00000228567,p.G265E|ENST00000535526,p.G84E|uc001rll.1,p.G265E|uc009zju.1,p.G75E|NM_198992,p.G265E protein_coding, processed_transcript, nonsense_mediated_decay uc009zju.1 nonsynonymous SNV exon5 c.G224A p.G75E IKALDLPAKDFTGTSDPYVKMYLLP IKALDLPAKDFTETSDPYVKMYLLP 1.0 3.0 - - 3903_12:33560007-33560007 C>T_IKALDLPAKDFTETSDPYVKMYLLP 0.0 10:127417654-127417654 A>G 0.0 4246 COLORECTAL - - - - EDRF1 ENST00000481600,p.N292S|NM_001202438,p.N292S|ENST00000368815,p.N292S|uc001liq.1,p.N292S|ENST00000356792,p.N292S|ENST00000419769,p.N292S retained_intron, protein_coding, nonsense_mediated_decay uc001liq.1 nonsynonymous SNV exon7 c.A875G p.N292S SAPKEQNLITLFNDGEHSQGLKNDF SAPKEQNLITLFSDGEHSQGLKNDF 7.0 10.0 - - 4246_10:127417654-127417654 A>G_SAPKEQNLITLFSDGEHSQGLKNDF 0.0 19:46289292-46289292 G>A 1.0 4240 BREAST - - - - DMWD NM_004943,p.R488C|uc002pdj.1,p.R488C|ENST00000270223,p.R488C|uc010eko.1,p.R173C|ENST00000377735,p.R488C retained_intron, protein_coding, processed_transcript uc010eko.1 nonsynonymous SNV exon1 c.C517T p.R173C SRGGEPGPGPLPRSLSRSNSLPHPA SRGGEPGPGPLPCSLSRSNSLPHPA 8.0 7.0 - - 4240_19:46289292-46289292 G>A_SRGGEPGPGPLPCSLSRSNSLPHPA 0.0 X:54836471-54836471 C>T 0.0 4301 MELANOMA - - - - MAGED2 ENST00000375060,p.T83I|NM_177433,p.T121I|uc004dtl.1,p.T121I|ENST00000343474,p.T103I|ENST00000375062,p.T83I|uc004dtk.1,p.T121I|ENST00000347546,p.T65I|NM_201222,p.T121I|NM_014599,p.T121I|uc004dtm.1,p.T83I|uc004dto.1,p.T95I|ENST00000375068,p.T121I|ENST00000396224,p.T121I|uc004dtn.1,p.T121I|ENST00000375058,p.T121I|ENST00000375053,p.T121I|ENST00000218439,p.T121I protein_coding, processed_transcript uc004dto.1 nonsynonymous SNV exon1 c.C284T p.T95I QNADPQAVTMPATETKKVSHVADTK QNADPQAVTMPAIETKKVSHVADTK 10.0 2.0 - - 4301_X:54836471-54836471 C>T_QNADPQAVTMPAIETKKVSHVADTK 0.0 20:24950962-24950962 T>G 1.0 4160 COLORECTAL - - - - APMAP ENST00000447138,p.K195T|uc010zsw.2,p.K195T|uc002wty.3,p.K195T|ENST00000217456,p.K195T|uc002wtz.3,p.K195T|NM_020531,p.K195T protein_coding uc010zsw.2 nonsynonymous SNV exon6 c.A584C p.K195T KLLLSSETPIEGKNMSFVNDLTVTQ KLLLSSETPIEGTNMSFVNDLTVTQ 10.0 1.0 CD8 - 4160_20:24950962-24950962 T>G_KLLLSSETPIEGTNMSFVNDLTVTQ 1.0 6:12120747-12120747 C>T 1.0 3713 MELANOMA - - - - HIVEP1 NM_002114,p.S240L|ENST00000379388,p.S240L|uc003nac.3,p.S240L protein_coding, nonsense_mediated_decay uc003nac.3 nonsynonymous SNV exon4 c.C719T p.S240L KTARSPPKLKNSSMDAPNQTSQELV KTARSPPKLKNSLMDAPNQTSQELV 7.0 2.0 - - 3713_6:12120747-12120747 C>T_KTARSPPKLKNSLMDAPNQTSQELV 0.0 3:9882455-9882455 G>A 1.0 3713 MELANOMA - - - - RPUSD3 NM_001142547,p.P133S|NM_173659,p.P148S|uc011atl.2,p.P133S|uc011atk.2,p.P148S|ENST00000383820,p.P148S|ENST00000424438,p.P116S|uc011atm.1,p.P140S|ENST00000418713,p.P144S|ENST00000433535,p.P133S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011atm.1 nonsynonymous SNV exon5 c.C418T p.P140S KESSGLVLLSSCPQTASRLQKYFTH KESSGLVLLSSCSQTASRLQKYFTH 9.0 8.0 - - 3713_3:9882455-9882455 G>A_KESSGLVLLSSCSQTASRLQKYFTH 0.0 5:154305535-154305535 A>G 1.0 4335 COLORECTAL - - - - GEMIN5 ENST00000285873,p.S394P|uc011ddk.1,p.S393P|NM_015465,p.S394P|uc003lvx.3,p.S394P|NM_001252156,p.S393P retained_intron, protein_coding uc011ddk.1 nonsynonymous SNV exon8 c.T1177C p.S393P AYSLAFSSVDIGSLAIGVGDGMIRV AYSLAFSSVDIGPLAIGVGDGMIRV 5.0 1.0 - - 4335_5:154305535-154305535 A>G_AYSLAFSSVDIGPLAIGVGDGMIRV 0.0 1:82447589-82447589 T>A 1.0 4284 COLORECTAL - - - - LPHN2 uc009wcd.3,p.Y1054N|ENST00000370721,p.Y992N|NM_001297704,p.Y1054N|ENST00000370713,p.Y1054N|ENST00000370727,p.Y1082N|ENST00000370715,p.Y1054N|uc001div.3,p.Y1054N|uc001diu.3,p.Y1054N|ENST00000271029,p.Y1082N|ENST00000370725,p.Y1082N|uc009wce.1,p.Y155N|ENST00000394879,p.Y1069N|ENST00000359929,p.Y1054N|NM_001297706,p.Y1054N|NM_001297705,p.Y1054N|ENST00000370717,p.Y1082N|uc001dit.4,p.Y1054N|ENST00000319517,p.Y1054N|ENST00000370728,p.Y1067N|uc001diw.3,p.Y638N|NM_012302,p.Y1054N|ENST00000370730,p.Y1067N|ENST00000335786,p.Y1067N|ENST00000370723,p.Y1069N protein_coding, processed_transcript uc009wce.1 nonsynonymous SNV exon5 c.T463A p.Y155N LLFINEETIVMAYLFTIFNAFQGVF LLFINEETIVMANLFTIFNAFQGVF 7.0 6.0 - - 4284_1:82447589-82447589 T>A_LLFINEETIVMANLFTIFNAFQGVF 0.0 16:77398264-77398264 G>A 0.0 3998 MELANOMA - - - - ADAMTS18 ENST00000449265,p.S266F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000449265 nonsynonymous SNV exon5 c.C797T p.S266F CGRRKKCICSQASHRGHLSKV CGRRKKCICSQAFHRGHLSKV 1.0 9.0 - - 3998_16:77398264-77398264 G>A_CGRRKKCICSQAFHRGHLSKV 0.0 X:47774811-47774811 A>C 0.0 4246 COLORECTAL - - - - ZNF81 NM_007137,p.S256R|ENST00000376954,p.S256R|uc010nhy.2,p.S256R|uc022bvq.1,p.S256R|ENST00000338637,p.S256R protein_coding, processed_transcript uc022bvq.1 nonsynonymous SNV exon5 c.A766C p.S256R KFCERNQCGKVLSLKHSLSQNVKFP KFCERNQCGKVLRLKHSLSQNVKFP 6.0 2.0 - - 4246_X:47774811-47774811 A>C_KFCERNQCGKVLRLKHSLSQNVKFP 0.0 3:48658950-48658950 C>A 1.0 4275 COLORECTAL - - - - TMEM89 NM_001008269,p.M80I|uc011bbo.2,p.M80I|ENST00000330862,p.M80I protein_coding uc011bbo.2 nonsynonymous SNV exon1 c.G240T p.M80I PVAAVMITTTMLMICRKILQGRRRS PVAAVMITTTMLIICRKILQGRRRS 5.0 9.0 - - 4275_3:48658950-48658950 C>A_PVAAVMITTTMLIICRKILQGRRRS 0.0 3:39374765-39374765 T>C 1.0 4196 COLORECTAL - - - - CCR8 uc003cjm.2,p.F232L|ENST00000326306,p.F315L|uc010hhr.2,p.F315L|NM_005201,p.F315L|ENST00000545843,p.F232L|uc021wwe.1,p.F315L protein_coding uc021wwe.1 nonsynonymous SNV exon1 c.T943C p.F315L VGEKFKKHLSEIFQKSCSQIFNYLG VGEKFKKHLSEILQKSCSQIFNYLG 6.0 10.0 - - 4196_3:39374765-39374765 T>C_VGEKFKKHLSEILQKSCSQIFNYLG 0.0 1:29356937-29356937 T>G 1.0 4317 COLORECTAL - - - - EPB41 uc009vtl.2,p.L175V|uc009vtk.2,p.L349V|ENST00000356093,p.L384V|uc001brl.2,p.L384V|NM_001166007,p.L175V|ENST00000373800,p.L175V|uc001bri.2,p.L349V|NM_203342,p.L175V|NM_001166005,p.L384V|ENST00000347529,p.L349V|uc001brk.3,p.L384V|ENST00000398863,p.L384V|ENST00000373797,p.L384V|uc001brm.2,p.L384V|uc021okg.1,p.L384V|uc009vtm.2,p.L17V|ENST00000373798,p.L384V|ENST00000343067,p.L384V|uc001brg.2,p.L175V|NM_203343,p.L349V|NM_004437,p.L175V|ENST00000349460,p.L175V|NM_001166006,p.L384V|uc001brj.2,p.L175V|uc001brh.2,p.L175V protein_coding, processed_transcript uc021okg.1 nonsynonymous SNV exon7 c.T1150G p.L384V KSYRSMTPAQADLEFLENAKKLSMY KSYRSMTPAQADVEFLENAKKLSMY 10.0 2.0 - - 4317_1:29356937-29356937 T>G_KSYRSMTPAQADVEFLENAKKLSMY 0.0 3:52960052-52960052 G>A 0.0 4155 MELANOMA - - - - SFMBT1 uc010hmr.3,p.P323S|ENST00000358080,p.P376S|ENST00000394752,p.P376S|uc003dgh.3,p.P376S|NM_016329,p.P376S|ENST00000296295,p.P376S|ENST00000394750,p.P376S retained_intron, protein_coding, processed_transcript uc010hmr.3 nonsynonymous SNV exon7 c.C967T p.P323S QCGAEAAPQRCFPPLISEHEFKENM QCGAEAAPQRCFSPLISEHEFKENM 8.0 4.0 - - 4155_3:52960052-52960052 G>A_QCGAEAAPQRCFSPLISEHEFKENM 0.0 11:75298699-75298699 C>A 0.0 4326 BREAST - - - - MAP6 uc001owu.3,p.G616V|NM_033063,p.G616V|ENST00000304771,p.G616V|ENST00000526740,p.G287V protein_coding, processed_transcript uc001owu.3 nonsynonymous SNV exon4 c.G1847T p.G616V KDQGPIVPAPVKGEGPIVPAPVKDE KDQGPIVPAPVKVEGPIVPAPVKDE 5.0 1.0 - - 4326_11:75298699-75298699 C>A_KDQGPIVPAPVKVEGPIVPAPVKDE 0.0 X:153698843-153698843 G>A 1.0 3879 MELANOMA - - - - PLXNA3 ENST00000369682,p.R1682Q|uc004flm.3,p.R1682Q|NM_017514,p.R1682Q retained_intron, protein_coding, processed_transcript uc004flm.3 nonsynonymous SNV exon30 c.G5045A p.R1682Q DDLFETVFSTAHRGSALPLAIKYMF DDLFETVFSTAHQGSALPLAIKYMF 4.0 10.0 - - 3879_X:153698843-153698843 G>A_DDLFETVFSTAHQGSALPLAIKYMF 0.0 2:230652360-230652360 A>G 1.0 3919 MELANOMA - - - - TRIP12 uc002vpy.1,p.F1274S|NM_001284215,p.F1577S|ENST00000389044,p.F1592S|ENST00000389045,p.F1274S|uc002vpw.1,p.F1544S|NM_004238,p.F1544S|uc021vxw.1,p.F1577S|NM_001284214,p.F1592S|uc002vpx.1,p.F1592S|NM_001284216,p.F1274S|ENST00000283943,p.F1544S retained_intron, protein_coding uc021vxw.1 nonsynonymous SNV exon31 c.T4730C p.F1577S TELGKTCPFFFPFDTRQMLFYVTAF TELGKTCPFFFPSDTRQMLFYVTAF 10.0 8.0 CD8 - 3919_2:230652360-230652360 A>G_TELGKTCPFFFPSDTRQMLFYVTAF 1.0 1:228469796-228469796 G>A 0.0 4245 COLORECTAL - - - - OBSCN uc001hsq.2,p.R3216H|uc001hsp.2,p.R575H|uc001hsn.4,p.R2787H|NM_052843,p.R2787H|ENST00000422127,p.R2787H|ENST00000359599,p.R1634H|ENST00000366706,p.R635H|NM_001098623,p.R2787H|NM_001271223,p.R3216H|ENST00000284548,p.R2787H|ENST00000570156,p.R3216H|uc009xez.2,p.R2787H retained_intron, protein_coding, processed_transcript uc009xez.2 nonsynonymous SNV exon31 c.G8360A p.R2787H KTVGSSSRFQATRQGRKYILVVREA KTVGSSSRFQATHQGRKYILVVREA 6.0 10.0 - - 4245_1:228469796-228469796 G>A_KTVGSSSRFQATHQGRKYILVVREA 0.0 14:76249651-76249651 C>T 1.0 3713 MELANOMA - - - - TTLL5 uc001xrz.3,p.P497S|uc010ask.2,p.P936S|ENST00000298832,p.P922S|ENST00000557636,p.P936S|uc001xrx.3,p.P922S|ENST00000556893,p.P473S|NM_015072,p.P922S|ENST00000554510,p.P431S retained_intron, protein_coding, processed_transcript uc010ask.2 nonsynonymous SNV exon27 c.C2806T p.P936S PGPCHHSSLSQIPSAIPSMPHQPTI PGPCHHSSLSQISSAIPSMPHQPTI 5.0 9.0 - - 3713_14:76249651-76249651 C>T_PGPCHHSSLSQISSAIPSMPHQPTI 0.0 12:25398284-25398284 C>A 1.0 4177 PANCREATIC - - ID=COSM1140133,COSM520;OCCURENCE=24(skin),10(breast),24(small_intestine),17(urinary_tract),2(genital_tract),2(kidney),1(eye),5(liver),1402(pancreas),39(prostate),110(biliary_tract),4060(large_intestine),1(autonomic_ganglia),245(ovary),4(soft_tissue),102(endometrium),13(thyroid),13(peritoneum),878(lung),6(testis),8(cervix),36(haematopoietic_and_lymphoid_tissue),2(pleura),9(gastrointestinal_tract_(site_indeterminate)),1(central_nervous_system),32(stomach),2(thymus),3(upper_aerodigestive_tract),4(oesophagus) 1 KRAS ENST00000557334,p.G12V|ENST00000556131,p.G12V|uc001rgp.1,p.G12V|ENST00000256078,p.G12V|NM_033360,p.G12V|ENST00000311936,p.G12V|uc001rgq.1,p.G12V|NM_004985,p.G12V protein_coding uc001rgq.1 nonsynonymous SNV exon2 c.G35T p.G12V MTEYKLVVVGAGGVGKSALTIQLI MTEYKLVVVGAVGVGKSALTIQLI 9.0 9.0 - - 4177_12:25398284-25398284 C>A_MTEYKLVVVGAVGVGKSALTIQLI 0.0 19:13216361-13216361 A>C 1.0 4213 COLORECTAL - - - - TRMT1 uc010xmy.1,p.L152R|ENST00000357720,p.L548R|NM_017722,p.L548R|ENST00000221504,p.L519R|NM_001142554,p.L519R|ENST00000592062,p.L548R|uc002mwk.2,p.L519R|uc002mwl.3,p.L548R|ENST00000437766,p.L548R|uc010xmz.1,p.L334R|NM_001136035,p.L548R|uc002mwj.2,p.L548R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010xmz.1 nonsynonymous SNV exon15 c.T1001G p.L334R REDANPSSRQRGLKRFQANPEANWG REDANPSSRQRGRKRFQANPEANWG 9.0 7.0 - - 4213_19:13216361-13216361 A>C_REDANPSSRQRGRKRFQANPEANWG 0.0 8:97847356-97847356 G>T 1.0 4316 COLORECTAL - - - - CPQ ENST00000220763,p.V197L|NM_016134,p.V197L|uc010mbe.2,p.V197L|uc003yhw.3,p.V197L protein_coding, processed_transcript uc010mbe.2 nonsynonymous SNV exon2 c.G589T p.V197L QYRTQGAVEAAKVGALASLIRSVAS QYRTQGAVEAAKLGALASLIRSVAS 5.0 10.0 - - 4316_8:97847356-97847356 G>T_QYRTQGAVEAAKLGALASLIRSVAS 0.0 15:50940897-50940897 G>A 1.0 3903 MELANOMA - - - - TRPM7 uc001zyt.4,p.S103F|NM_017672,p.S103F|ENST00000313478,p.S103F|uc010bew.2,p.S103F|ENST00000560955,p.S103F|NM_001301212,p.S103F retained_intron, protein_coding, processed_transcript uc010bew.2 nonsynonymous SNV exon4 c.C308T p.S103F AYGVINFQGGSHSYRAKYVRLSYDT AYGVINFQGGSHFYRAKYVRLSYDT 7.0 3.0 - - 3903_15:50940897-50940897 G>A_AYGVINFQGGSHFYRAKYVRLSYDT 0.0 4:661683-661683 C>G 1.0 4284 COLORECTAL - - - - PDE6B uc003gap.3,p.F797L|NM_001145292,p.F518L|NM_000283,p.F797L|uc011buy.2,p.F518L|NM_001145291,p.F797L|ENST00000496514,p.F797L|ENST00000429163,p.F518L|uc003gao.4,p.F797L|uc011buz.2,p.F229L|ENST00000255622,p.F797L retained_intron, protein_coding uc011buz.2 nonsynonymous SNV exon9 c.C687G p.F229L EFSRFHEEILPMFDRLQNNRKEWKA EFSRFHEEILPMLDRLQNNRKEWKA 7.0 5.0 - - 4284_4:661683-661683 C>G_EFSRFHEEILPMLDRLQNNRKEWKA 0.0 16:67195814-67195816 CGC>- 1.0 4078 GASTRIC - - - - FBXL8 ENST00000521920,p.42_43del protein_coding, processed_transcript, nonsense_mediated_decay ENST00000521920 nonframeshift deletion exon2 c.126_128del p.42_43del RVCRAWAAAATCSAVWHDTKIRFHP RVCRAWAAAATCSVWHDTKIRFHPV 5.0 5.0 - - 4078_16:67195814-67195816 CGC>-_RVCRAWAAAATCSVWHDTKIRFHPV 0.0 1:36039969-36039969 C>T 0.0 4189 MELANOMA - - - - TFAP2E ENST00000373235,p.L157F|uc010ohy.2,p.L157F|NM_178548,p.L157F protein_coding uc010ohy.2 nonsynonymous SNV exon2 c.C469T p.L157F DGAHGLADAPLGLPGLAAAPGLEDL DGAHGLADAPLGFPGLAAAPGLEDL 4.0 9.0 - - 4189_1:36039969-36039969 C>T_DGAHGLADAPLGFPGLAAAPGLEDL 0.0 9:3898820-3898820 C>T 1.0 3713 MELANOMA - - - - GLIS3 ENST00000324333,p.E512K|uc003zhz.1,p.E445K|NM_152629,p.E512K|uc010mhf.1,p.E61K|uc003zhw.1,p.E512K|ENST00000381971,p.E667K|NM_001042413,p.E667K|uc003zhx.1,p.E667K|uc003zhy.1,p.E445K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010mhf.1 nonsynonymous SNV exon4 c.G181A p.E61K EQQARKKLRSSTELHPDLLTDCLTV EQQARKKLRSSTKLHPDLLTDCLTV 1.0 2.0 - - 3713_9:3898820-3898820 C>T_EQQARKKLRSSTKLHPDLLTDCLTV 0.0 1:182827922-182827922 G>A 1.0 4259 COLORECTAL - - - - DHX9 NM_001357,p.E319K|uc001gpr.3,p.E319K|ENST00000367549,p.E319K|uc001gps.3,p.E105K protein_coding, processed_transcript uc001gps.3 nonsynonymous SNV exon11 c.G313A p.E105K PVALNIGKLAQFEPSQRQNQVGVVP PVALNIGKLAQFKPSQRQNQVGVVP 10.0 9.0 - - 4259_1:182827922-182827922 G>A_PVALNIGKLAQFKPSQRQNQVGVVP 0.0 11:119290158-119290158 G>A 1.0 3713 MELANOMA - - - - THY1 ENST00000580275,p.S132F|ENST00000284240,p.S149F|NM_006288,p.S149F|ENST00000528522,p.S149F|uc001pwr.3,p.S149F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001pwr.3 nonsynonymous SNV exon4 c.C446T p.S149F AQNTSWLLLLLLSLSLLQATDFMSL AQNTSWLLLLLLFLSLLQATDFMSL 9.0 8.0 - - 3713_11:119290158-119290158 G>A_AQNTSWLLLLLLFLSLLQATDFMSL 0.0 11:58338132-58338132 G>A 1.0 3879 MELANOMA - - - - LPXN uc010rkj.2,p.S28F|uc001nmw.3,p.S23F|ENST00000395074,p.S23F|ENST00000528954,p.S28F|ENST00000530561,p.S23F|NM_004811,p.S23F|NM_001143995,p.S28F retained_intron, protein_coding, nonsense_mediated_decay uc010rkj.2 nonsynonymous SNV exon2 c.C83T p.S28F LERSTLQDSDEYSNPAPLPLDQHSR LERSTLQDSDEYFNPAPLPLDQHSR 3.0 10.0 - - 3879_11:58338132-58338132 G>A_LERSTLQDSDEYFNPAPLPLDQHSR 0.0 2:80646628-80646628 C>T 1.0 3879 MELANOMA - - - 2 CTNNA2 uc010yse.2,p.P398S|NM_001282599,p.P77S|NM_001282598,p.P432S|NM_001282597,p.P398S|NM_004389,p.P398S|ENST00000541047,p.P398S|ENST00000540488,p.P398S|uc010ysh.2,p.P398S|ENST00000496558,p.P398S|ENST00000466387,p.P398S|ENST00000409550,p.P63S|ENST00000402739,p.P398S|NM_001282600,p.P30S|uc010ysg.2,p.P398S|ENST00000361291,p.P432S|uc010ysi.2,p.P30S|uc010ysf.2,p.P398S|ENST00000343114,p.P77S|NM_001164883,p.P398S retained_intron, protein_coding, processed_transcript uc010ysi.2 nonsynonymous SNV exon3 c.C88T p.P30S DHISDSFLETNVPLLVLIEAAKSGN DHISDSFLETNVSLLVLIEAAKSGN 6.0 3.0 - - 3879_2:80646628-80646628 C>T_DHISDSFLETNVSLLVLIEAAKSGN 0.0 7:71135066-71135066 G>C 0.0 4213 COLORECTAL - - - - WBSCR17 uc003tvy.4,p.R459T|uc003tvz.4,p.R158T|ENST00000333538,p.R459T|NM_022479,p.R459T protein_coding, processed_transcript uc003tvz.4 nonsynonymous SNV exon8 c.G473C p.R158T QWYLDHVYPEMRRYNNTVAYGELRN QWYLDHVYPEMRTYNNTVAYGELRN 5.0 9.0 - - 4213_7:71135066-71135066 G>C_QWYLDHVYPEMRTYNNTVAYGELRN 0.0 19:49713970-49713970 T>C 1.0 3713 MELANOMA - - - - TRPM4 ENST00000252826,p.V1111A|NM_017636,p.V1111A|ENST00000355712,p.V757A|uc010yal.2,p.V757A|ENST00000427978,p.V966A|NM_001195227,p.V966A|uc002pmy.3,p.V453A|uc002pmx.3,p.V937A|uc010yak.2,p.V575A|uc010emu.3,p.V966A|uc002pmw.3,p.V1111A|uc010emv.3,p.V996A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010yal.2 nonsynonymous SNV exon17 c.T2270C p.V757A PQPSSPALEHFRVYLSKEAERKLLT PQPSSPALEHFRAYLSKEAERKLLT 3.0 10.0 - - 3713_19:49713970-49713970 T>C_PQPSSPALEHFRAYLSKEAERKLLT 0.0 9:35102710-35102710 C>T 1.0 3713 MELANOMA - - - - STOML2 ENST00000452248,p.M52I|ENST00000356493,p.M52I|uc003zwi.3,p.M52I|NM_013442,p.M52I|uc011lou.2,p.M52I|NM_001287031,p.M52I protein_coding, processed_transcript, nonsense_mediated_decay uc011lou.2 nonsynonymous SNV exon2 c.G156A p.M52I FVPQQEAWVVERMGRFHRILEPGLN FVPQQEAWVVERIGRFHRILEPGLN 9.0 1.0 - - 3713_9:35102710-35102710 C>T_FVPQQEAWVVERIGRFHRILEPGLN 0.0 1:196394996-196394996 G>T 0.0 4126 NSCLC - - - - KCNT2 uc009wyv.1,p.D344E|NM_001287820,p.D369E|uc001gte.1,p.D369E|uc001gtf.1,p.D369E|NM_198503,p.D369E|ENST00000367433,p.D369E|ENST00000294725,p.D369E|uc009wyu.3,p.D369E|uc001gtd.1,p.D369E|NM_001287819,p.D369E|ENST00000367431,p.D369E protein_coding, processed_transcript uc009wyv.1 nonsynonymous SNV exon10 c.C1032A p.D344E VIYLQGSALKDQDLLRAKMDDAEAC VIYLQGSALKDQELLRAKMDDAEAC 1.0 5.0 - - 4126_1:196394996-196394996 G>T_VIYLQGSALKDQELLRAKMDDAEAC 0.0 6:74104827-74104827 G>A 0.0 3713 MELANOMA - - - - DDX43 NM_018665,p.E67K|ENST00000370336,p.E67K|uc003pgw.3,p.E67K|ENST00000539829,p.E67K retained_intron, protein_coding, processed_transcript uc003pgw.3 nonsynonymous SNV exon1 c.G199A p.E67K SRPPEAVAAGHEELPLCFALKSHFV SRPPEAVAAGHEKLPLCFALKSHFV 3.0 7.0 - - 3713_6:74104827-74104827 G>A_SRPPEAVAAGHEKLPLCFALKSHFV 0.0 8:77764324-77764324 C>T 1.0 2556 MELANOMA - - - - ZFHX4 ENST00000521891,p.P1723S|ENST00000050961,p.P1678S|uc003yaw.1,p.P1678S|uc003yau.2,p.P1723S|ENST00000518282,p.P1697S|NM_024721,p.P1723S|ENST00000455469,p.P1678S retained_intron, protein_coding, nonsense_mediated_decay uc003yaw.1 nonsynonymous SNV exon9 c.C5032T p.P1678S PQFLNPAFLPHFPMTPEALLQFQQP PQFLNPAFLPHFSMTPEALLQFQQP 6.0 7.0 - - 2556_8:77764324-77764324 C>T_PQFLNPAFLPHFSMTPEALLQFQQP 0.0 7:103841329-103841329 A>C 1.0 4189 MELANOMA - - - - ORC5 ENST00000447452,p.N81K|NM_181747,p.N81K|ENST00000297431,p.N81K|uc003vcc.3,p.N81K|uc003vcb.3,p.N81K|NM_002553,p.N81K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003vcc.3 nonsynonymous SNV exon3 c.T243G p.N81K LRLLLEQILNKLNHLSSSEDGCSTE LRLLLEQILNKLKHLSSSEDGCSTE 7.0 6.0 - - 4189_7:103841329-103841329 A>C_LRLLLEQILNKLKHLSSSEDGCSTE 0.0 X:105881057-105881057 G>T 0.0 4259 COLORECTAL - - - - CXorf57 uc004emi.4,p.K492N|ENST00000461251,p.K492N|ENST00000372548,p.K492N|NM_018015,p.K492N|uc004emh.2,p.K492N protein_coding, processed_transcript, nonsense_mediated_decay uc004emi.4 nonsynonymous SNV exon8 c.G1476T p.K492N AKVKNFIQWIRTKSDSGEQKNMVIG AKVKNFIQWIRTNSDSGEQKNMVIG 6.0 2.0 - - 4259_X:105881057-105881057 G>T_AKVKNFIQWIRTNSDSGEQKNMVIG 0.0 19:11152082-11152082 C>T 1.0 3466 MELANOMA - - - 1 SMARCA4 uc002mqj.4,p.P1394S|NM_001128845,p.P1394S|NM_001128847,p.P1391S|ENST00000358026,p.P1456S|uc010dxq.3,p.P1391S|ENST00000589677,p.P1394S|ENST00000429416,p.P1424S|ENST00000450717,p.P1394S|ENST00000344626,p.P1424S|NM_001128844,p.P1424S|uc002mqh.4,p.P514S|NM_001128848,p.P1391S|ENST00000538456,p.P306S|NM_001128846,p.P1394S|NM_001128849,p.P1456S|ENST00000444061,p.P1391S|uc010dxo.3,p.P1456S|ENST00000413806,p.P1394S|NM_003072,p.P1424S|ENST00000590574,p.P1391S|ENST00000592158,p.P117S|uc002mqf.4,p.P1424S|uc010dxp.3,p.P1424S|uc010dxs.3,p.P1394S|uc010dxr.3,p.P1391S|ENST00000541122,p.P1394S retained_intron, protein_coding, processed_transcript uc010dxs.3 nonsynonymous SNV exon28 c.C4180T p.P1394S KRKRDSDAGSSTPTTSTRSRDKDDE KRKRDSDAGSSTSTTSTRSRDKDDE 10.0 2.0 - - 3466_19:11152082-11152082 C>T_KRKRDSDAGSSTSTTSTRSRDKDDE 0.0 11:100999685-100999685 G>T 0.0 4326 BREAST - - - - PGR ENST00000263463,p.S39R|ENST00000526300,p.S39R|uc001pgh.2,p.S39R|ENST00000534780,p.S39R|ENST00000528960,p.S39R|ENST00000325455,p.S39R|NM_000926,p.S39R retained_intron, protein_coding, nonsense_mediated_decay uc001pgh.2 nonsynonymous SNV exon1 c.C117A p.S39R LLCRPAAGPFPGSQTSDTLPEVSAI LLCRPAAGPFPGRQTSDTLPEVSAI 2.0 9.0 - - 4326_11:100999685-100999685 G>T_LLCRPAAGPFPGRQTSDTLPEVSAI 0.0 9:16435575-16435575 G>A 1.0 3716 MELANOMA - - - - BNC2 uc011lmv.2,p.P699S protein_coding, processed_transcript, nonsense_mediated_decay uc011lmv.2 nonsynonymous SNV exon3 c.C2095T p.P699S HVCTVAGCNAAFPSRRSRDSKRLES HVCTVAGCNAAFSSRRSRDSKRLES 9.0 10.0 - - 3716_9:16435575-16435575 G>A_HVCTVAGCNAAFSSRRSRDSKRLES 0.0 8:53569850-53569850 T>C 1.0 4326 BREAST - - - - RB1CC1 ENST00000539297,p.I847V|ENST00000435644,p.I847V|ENST00000025008,p.I847V|NM_001083617,p.I847V|NM_014781,p.I847V|uc003xrf.4,p.I847V|uc003xre.4,p.I847V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003xrf.4 nonsynonymous SNV exon15 c.A2539G p.I847V NSLKCTAVEIRNIIEKVKCSLEITL NSLKCTAVEIRNVIEKVKCSLEITL 7.0 2.0 - - 4326_8:53569850-53569850 T>C_NSLKCTAVEIRNVIEKVKCSLEITL 0.0 1:203098171-203098171 C>T 1.0 4287 COLORECTAL - - - - ADORA1 ENST00000367236,p.L68F|NM_000674,p.L68F|ENST00000309502,p.L68F|uc001gze.1,p.L68F|ENST00000337894,p.L68F|uc001gzf.1,p.L68F|NM_001048230,p.L68F|uc010pqh.1,p.L101F|ENST00000367235,p.L68F protein_coding, processed_transcript uc010pqh.1 nonsynonymous SNV exon2 c.C301T p.L101F VAVGALVIPLAILINIGPQTYFHTC VAVGALVIPLAIFINIGPQTYFHTC 2.0 9.0 - - 4287_1:203098171-203098171 C>T_VAVGALVIPLAIFINIGPQTYFHTC 0.0 16:1261517-1261517 G>A 0.0 4298 COLORECTAL - - ID=COSM967099,COSM967101;OCCURENCE=1(endometrium) - CACNA1H uc002cku.3,p.D169N|NM_021098,p.D1463N|uc002ckv.3,p.D169N|uc002cks.3,p.D1463N|ENST00000348261,p.D1463N|NM_001005407,p.D1463N|ENST00000358590,p.D1463N|uc002ckt.3,p.D1463N|uc010brj.3,p.D169N|ENST00000565831,p.D1463N retained_intron, protein_coding uc010brj.3 nonsynonymous SNV exon6 c.G505A p.D169N LFKGKFYYCEGPDTRNISTKAQCRA LFKGKFYYCEGPNTRNISTKAQCRA 5.0 7.0 - - 4298_16:1261517-1261517 G>A_LFKGKFYYCEGPNTRNISTKAQCRA 0.0 16:72993856-72993856 C>G 0.0 3775 CERVICAL - - - 1 ZFHX3 NM_006885,p.E63D|ENST00000268489,p.E63D|uc002fck.3,p.E63D retained_intron, protein_coding uc002fck.3 nonsynonymous SNV exon2 c.G189C p.E63D DSLRAPFNERLAESTASAGPPSEPA DSLRAPFNERLADSTASAGPPSEPA 5.0 4.0 - - 3775_16:72993856-72993856 C>G_DSLRAPFNERLADSTASAGPPSEPA 0.0 12:72290457-72290457 G>A 1.0 3903 MELANOMA - - - - TBC1D15 ENST00000485960,p.G329R|uc009zrv.2,p.G230R|ENST00000550746,p.G346R|ENST00000393309,p.G100R|ENST00000319106,p.G337R|uc010stt.2,p.G337R|uc001sww.3,p.G100R|ENST00000491063,p.G230R|uc001swv.3,p.G329R|NM_001146214,p.G337R|NM_022771,p.G346R|NM_001146213,p.G329R|uc001swu.3,p.G346R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010stt.2 nonsynonymous SNV exon10 c.G1009A p.G337R NVDNMKQMIFRGGLSHALRKQAWKF NVDNMKQMIFRGRLSHALRKQAWKF 8.0 8.0 - - 3903_12:72290457-72290457 G>A_NVDNMKQMIFRGRLSHALRKQAWKF 0.0 7:31793126-31793126 C>T 0.0 4275 COLORECTAL - - - - PDE1C ENST00000396193,p.A728T|NM_001191059,p.A668T|NM_001191058,p.A728T|uc003tcm.2,p.A668T|ENST00000321453,p.A668T|NM_001191057,p.A668T|ENST00000396191,p.A668T|uc003tco.2,p.A728T|uc003tcn.1,p.A668T retained_intron, protein_coding, processed_transcript uc003tco.2 nonsynonymous SNV exon19 c.G2182A p.A728T KPPLRHFKRPAYASSSYAPSVSKKT KPPLRHFKRPAYTSSSYAPSVSKKT 4.0 6.0 - - 4275_7:31793126-31793126 C>T_KPPLRHFKRPAYTSSSYAPSVSKKT 0.0 18:21483031-21483031 C>T 1.0 4077 BILE DUCT - - - - LAMA3 NM_198129,p.A2087V|ENST00000313654,p.A2087V|uc002kut.4,p.A422V|NM_001127717,p.A2031V|uc002kus.4,p.A478V|uc002kuq.3,p.A2087V|NM_001127718,p.A422V|NM_000227,p.A478V|ENST00000587184,p.A422V|uc002kur.3,p.A2031V|ENST00000269217,p.A478V|ENST00000399516,p.A2031V retained_intron, protein_coding, processed_transcript, non_stop_decay uc002kut.4 nonsynonymous SNV exon11 c.C1265T p.A422V SLQSDFTKYLTTADSSLLQTNIALQ SLQSDFTKYLTTVDSSLLQTNIALQ 9.0 8.0 - - 4077_18:21483031-21483031 C>T_SLQSDFTKYLTTVDSSLLQTNIALQ 0.0 4:7719909-7719909 A>G 0.0 4235 COLORECTAL - - - - SORCS2 uc003gkb.4,p.Q808R|uc011bwi.2,p.Q636R|ENST00000507866,p.Q808R|ENST00000329016,p.Q636R|NM_020777,p.Q808R protein_coding, processed_transcript uc011bwi.2 nonsynonymous SNV exon18 c.A1907G p.Q636R PGEDVLFVVRQEQGDVLTTKYQVDL PGEDVLFVVRQERGDVLTTKYQVDL 4.0 2.0 - - 4235_4:7719909-7719909 A>G_PGEDVLFVVRQERGDVLTTKYQVDL 0.0 9:134501710-134501710 G>A 1.0 3713 MELANOMA - - - - RAPGEF1 NM_198679,p.S435F|uc022bou.1,p.S422F|ENST00000372190,p.S435F|uc022bov.1,p.S422F|NM_005312,p.S417F|ENST00000372195,p.S434F|ENST00000372189,p.S417F|uc022bot.1,p.S417F|uc022bos.1,p.S435F protein_coding, processed_transcript uc022bov.1 nonsynonymous SNV exon10 c.C1265T p.S422F QQTAWNLSPLPESLGESGSPFLGPP QQTAWNLSPLPEFLGESGSPFLGPP 8.0 4.0 - - 3713_9:134501710-134501710 G>A_QQTAWNLSPLPEFLGESGSPFLGPP 0.0 6:158564153-158564153 C>G 0.0 4240 BREAST - - - - SERAC1 ENST00000367104,p.E225Q|uc003qrc.2,p.E225Q|ENST00000606965,p.E225Q|ENST00000367102,p.E225Q|ENST00000367101,p.E225Q|NM_032861,p.E225Q protein_coding uc003qrc.2 nonsynonymous SNV exon8 c.G673C p.E225Q QLLASLPQTELDECIQYFTSLALSE QLLASLPQTELDQCIQYFTSLALSE 6.0 10.0 - - 4240_6:158564153-158564153 C>G_QLLASLPQTELDQCIQYFTSLALSE 0.0 14:80971302-80971302 T>G 0.0 4126 NSCLC - - - - CEP128 ENST00000281129,p.Q1045P|ENST00000555265,p.Q1045P|uc001xux.2,p.Q1045P|NM_152446,p.Q1045P|uc031qpo.1,p.Q1072P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031qpo.1 nonsynonymous SNV exon25 c.A3215C p.Q1072P SHTRGLDHSSSWQDHSRFLSSPRFS SHTRGLDHSSSWPDHSRFLSSPRFS 4.0 3.0 - - 4126_14:80971302-80971302 T>G_SHTRGLDHSSSWPDHSRFLSSPRFS 0.0 19:9087347-9087347 G>A 0.0 3903 MELANOMA - - - 2 MUC16 ENST00000397910,p.P1490S|uc002mkp.3,p.P1490S|NM_024690,p.P1490S protein_coding, processed_transcript, nonsense_mediated_decay uc002mkp.3 nonsynonymous SNV exon1 c.C4468T p.P1490S SPSSPMSTFAIFPPMSTPSHELSKS SPSSPMSTFAIFSPMSTPSHELSKS 1.0 5.0 - - 3903_19:9087347-9087347 G>A_SPSSPMSTFAIFSPMSTPSHELSKS 0.0 X:70149561-70149561 G>A 0.0 4287 COLORECTAL - - - - SLC7A3 NM_001048164,p.S96L|uc004dyn.3,p.S96L|ENST00000374299,p.S96L|ENST00000298085,p.S96L|uc004dyo.3,p.S96L|NM_032803,p.S96L protein_coding uc004dyo.3 nonsynonymous SNV exon2 c.C287T p.S96L YAEFGARVPRSGSAYLYSYVTVGEL YAEFGARVPRSGLAYLYSYVTVGEL 1.0 10.0 - - 4287_X:70149561-70149561 G>A_YAEFGARVPRSGLAYLYSYVTVGEL 0.0 X:53111841-53111841 C>T 0.0 4081 COLORECTAL - - - - TSPYL2 ENST00000579390,p.A54V retained_intron, protein_coding, nonsense_mediated_decay ENST00000579390 nonsynonymous SNV exon1 c.C161T p.A54V PQQRPRLQEETEAAQIIKNDLWVNP PQQRPRLQEETEVAQIIKNDLWVNP 5.0 5.0 - - 4081_X:53111841-53111841 C>T_PQQRPRLQEETEVAQIIKNDLWVNP 0.0 4:2307130-2307130 G>A 1.0 3919 MELANOMA - - - - ZFYVE28 ENST00000511071,p.P283S|uc003gew.2,p.P199S|ENST00000290974,p.P313S|uc003gex.2,p.P313S|NM_001172659,p.P243S|uc011bvk.2,p.P243S|ENST00000515312,p.P243S|uc011bvl.2,p.P283S|NM_001172656,p.P283S|NM_020972,p.P313S retained_intron, protein_coding, processed_transcript uc011bvl.2 nonsynonymous SNV exon7 c.C847T p.P283S QGPAALAPALSAPLPPEGPLSAKAK QGPAALAPALSASLPPEGPLSAKAK 5.0 9.0 - - 3919_4:2307130-2307130 G>A_QGPAALAPALSASLPPEGPLSAKAK 0.0 17:1557072-1557072 ->GACC 1.0 4275 COLORECTAL - - - - PRPF8 ENST00000304992,p.R2076fs|NM_006445,p.R2076fs|ENST00000572621,p.R2076fs|uc002fte.3,p.R2076fs retained_intron, protein_coding, processed_transcript uc002fte.3 frameshift insertion exon38 c.6225_6226insGGTC p.R2076fs TQTFSSKTEWRVRAISAANLHLRTN TQTFSSKTEWRVGQGHLCCQPAPKDQSHLCFI 10.0 2.0 - - 4275_17:1557072-1557072 ->GACC_TQTFSSKTEWRVGQGHLCCQPAPKDQSHLCFI 0.0 1:26872445-26872445 G>T 0.0 4134 NSCLC - - - - RPS6KA1 NM_001006665,p.W18C|uc001bms.1,p.W18C|ENST00000531382,p.W18C|ENST00000374163,p.W18C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001bms.1 nonsynonymous SNV exon1 c.G54T p.W18C KPPRLRLWALIPWLPRKQRPRISQT KPPRLRLWALIPCLPRKQRPRISQT 9.0 10.0 - - 4134_1:26872445-26872445 G>T_KPPRLRLWALIPCLPRKQRPRISQT 0.0 11:118183485-118183485 G>A 0.0 2556 MELANOMA - - - - CD3E uc001psq.4,p.E86K|NM_000733,p.E86K|uc010rya.2,p.E86K|ENST00000361763,p.E86K|ENST00000528600,p.E80K retained_intron, protein_coding uc010rya.2 nonsynonymous SNV exon6 c.G256A p.E86K NIGSDEDHLSLKEFSELEQSGYYVC NIGSDEDHLSLKKFSELEQSGYYVC 1.0 10.0 - - 2556_11:118183485-118183485 G>A_NIGSDEDHLSLKKFSELEQSGYYVC 0.0 8:144406776-144406776 G>A 1.0 4240 BREAST - - - - TOP1MT ENST00000523676,p.P134L|uc010mfd.2,p.P27L|uc011lke.3,p.P134L|ENST00000521193,p.P134L|ENST00000522041,p.P134L|NM_001258447,p.P134L|ENST00000519139,p.P134L|ENST00000519148,p.P134L|ENST00000329245,p.P232L|uc011lkf.2,p.P27L|NM_001258446,p.P134L|ENST00000519591,p.P134L|NM_052963,p.P232L|uc003yxz.4,p.P232L|uc011lkd.3,p.P134L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011lkf.2 nonsynonymous SNV exon2 c.C80T p.P27L INCSRDSKIPEPPAGHQWKEVRSDN INCSRDSKIPEPLAGHQWKEVRSDN 10.0 9.0 - - 4240_8:144406776-144406776 G>A_INCSRDSKIPEPLAGHQWKEVRSDN 0.0 2:152537311-152537311 T>G 0.0 4245 COLORECTAL - - - - NEB NM_004543,p.K992T|ENST00000603639,p.K992T|ENST00000427231,p.K992T|uc021vrd.1,p.K992T|uc021vrb.1,p.K992T|uc021vrc.1,p.K992T|NM_001271208,p.K992T|ENST00000604864,p.K992T|uc010fnx.3,p.K992T|NM_001164508,p.K992T|ENST00000409198,p.K992T|ENST00000172853,p.K992T|ENST00000397345,p.K992T|uc031rpp.1,p.K992T|NM_001164507,p.K992T|uc002txu.3,p.K992T retained_intron, protein_coding, processed_transcript uc031rpp.1 nonsynonymous SNV exon30 c.A2975C p.K992T NEKKYRQHPDTLKFTSIEDAPITVQ NEKKYRQHPDTLTFTSIEDAPITVQ 5.0 6.0 - - 4245_2:152537311-152537311 T>G_NEKKYRQHPDTLTFTSIEDAPITVQ 0.0 12:64377765-64377765 G>A 1.0 4240 BREAST - - - - SRGAP1 ENST00000357825,p.E36K|ENST00000355086,p.E36K|uc010ssp.1,p.E36K|uc001srt.3,p.E36K|NM_020762,p.E36K retained_intron, protein_coding uc010ssp.1 nonsynonymous SNV exon2 c.G106A p.E36K IRAQLVEQQKCLEQQTEMRVQLLQD IRAQLVEQQKCLKQQTEMRVQLLQD 8.0 7.0 - - 4240_12:64377765-64377765 G>A_IRAQLVEQQKCLKQQTEMRVQLLQD 0.0 4:166915679-166915679 T>G 0.0 4278 COLORECTAL - - ID=COSM1428406;OCCURENCE=1(large_intestine) - TLL1 uc011cjn.2,p.F170V|ENST00000513213,p.F170V|NM_001204760,p.F170V|uc003irh.2,p.F170V|ENST00000061240,p.F170V|ENST00000507499,p.F170V|uc021xud.1,p.F170V|NM_012464,p.F170V|ENST00000506144,p.F70V protein_coding, nonsense_mediated_decay uc021xud.1 nonsynonymous SNV exon4 c.T508G p.F170V PGGVIPYVIGGNFTGSQRAMFKQAM PGGVIPYVIGGNVTGSQRAMFKQAM 6.0 6.0 - - 4278_4:166915679-166915679 T>G_PGGVIPYVIGGNVTGSQRAMFKQAM 0.0 1:224505430-224505430 C>A 1.0 4126 NSCLC - - - - NVL uc010pvd.2,p.A84S|uc001hok.3,p.A84S|ENST00000467882,p.A84S|ENST00000281701,p.A84S|NM_001243147,p.A84S|ENST00000469075,p.A84S|ENST00000488718,p.A84S|NM_002533,p.A84S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010pvd.2 nonsynonymous SNV exon4 c.G250T p.A84S LKNLTELEDEHLAKRARQGEEDNEY LKNLTELEDEHLSKRARQGEEDNEY 8.0 9.0 - - 4126_1:224505430-224505430 C>A_LKNLTELEDEHLSKRARQGEEDNEY 0.0 5:171337597-171337597 C>T 1.0 3713 MELANOMA - - - - FBXW11 ENST00000393802,p.D84N|ENST00000517395,p.D139N|uc003mbn.1,p.D84N|NM_033645,p.D84N|NM_033644,p.D105N|ENST00000265094,p.D118N|NM_012300,p.D118N|ENST00000296933,p.D105N|uc003mbl.1,p.D105N|uc011dey.1,p.D86N|ENST00000425623,p.D86N|uc003mbm.1,p.D118N protein_coding, processed_transcript, nonsense_mediated_decay uc011dey.1 nonsynonymous SNV exon3 c.G256A p.D86N HINSYLKPMLQRDFITALPEQGLDH HINSYLKPMLQRNFITALPEQGLDH 8.0 8.0 - - 3713_5:171337597-171337597 C>T_HINSYLKPMLQRNFITALPEQGLDH 0.0 1:4832537-4832537 C>T 0.0 4326 BREAST - - - - AJAP1 uc001alm.1,p.T372M|uc001aln.3,p.T372M|ENST00000378191,p.T372M|ENST00000378190,p.T372M|NM_018836,p.T372M|NM_001042478,p.T372M protein_coding, processed_transcript uc001aln.3 nonsynonymous SNV exon4 c.C1115T p.T372M CVRASVPVYTDETLHSTTGEYKSTF CVRASVPVYTDEMLHSTTGEYKSTF 2.0 8.0 - - 4326_1:4832537-4832537 C>T_CVRASVPVYTDEMLHSTTGEYKSTF 0.0 17:20483760-20483760 C>G 0.0 4346 COLORECTAL - - - - CDRT15L2 ENST00000399044,p.D188E|uc021tsn.1,p.D188E|NM_001190790,p.D188E protein_coding uc021tsn.1 nonsynonymous SNV exon2 c.C564G p.D188E PSPGHGGKHGGGDQGIQTGLLYLAG PSPGHGGKHGGGEQGIQTGLLYLAG 1.0 4.0 - - 4346_17:20483760-20483760 C>G_PSPGHGGKHGGGEQGIQTGLLYLAG 0.0 6:109764243-109764243 C>G 0.0 4155 MELANOMA - - - - SMPD2 NM_003080,p.P230A|ENST00000258052,p.P230A|uc003pti.3,p.P230A retained_intron, protein_coding uc003pti.3 nonsynonymous SNV exon8 c.C688G p.P230A PKNCYVSQQELKPFPFGVRIDYVLY PKNCYVSQQELKAFPFGVRIDYVLY 7.0 4.0 - - 4155_6:109764243-109764243 C>G_PKNCYVSQQELKAFPFGVRIDYVLY 0.0 7:116340222-116340222 A>T 1.0 4134 NSCLC - - - 1 MET ENST00000436117,p.M362L|uc010lkh.3,p.M362L|uc011knh.1,p.M362L|uc011kng.1,p.M362L|NM_001127500,p.M362L|uc011kmz.1,p.M362L|uc010lkg.3,p.M362L|uc003vij.3,p.M362L|uc011kna.1,p.M362L|uc011kni.2,p.M362L|uc003vii.1,p.M381L|uc011knf.2,p.M362L|uc011knc.1,p.M362L|uc011kne.2,p.M362L|uc011knb.1,p.M362L|NM_000245,p.M362L|ENST00000397752,p.M362L|uc022akk.1,p.M362L|ENST00000318493,p.M362L|uc011knd.2,p.M362L protein_coding, processed_transcript uc022akk.1 nonsynonymous SNV exon2 c.A1084T p.M362L KPDSAEPMDRSAMCAFPIKYVNDFF KPDSAEPMDRSALCAFPIKYVNDFF 9.0 4.0 - - 4134_7:116340222-116340222 A>T_KPDSAEPMDRSALCAFPIKYVNDFF 0.0 19:40886834-40886834 G>T 0.0 4278 COLORECTAL - - - - HIPK4 uc002onp.3,p.A355D|NM_144685,p.A355D|ENST00000291823,p.A355D protein_coding uc002onp.3 nonsynonymous SNV exon3 c.C1064A p.A355D RHPFVSMQQLRSAHETTHYYQLSLR RHPFVSMQQLRSDHETTHYYQLSLR 3.0 5.0 - - 4278_19:40886834-40886834 G>T_RHPFVSMQQLRSDHETTHYYQLSLR 0.0 8:28210805-28210805 G>A 1.0 2369 MELANOMA - - - - ZNF395 NM_018660,p.P235L|ENST00000523202,p.P235L|ENST00000344423,p.P235L|ENST00000523095,p.P235L|uc003xgt.4,p.P235L|uc003xgr.3,p.P235L|uc003xgs.3,p.P235L|uc003xgq.3,p.P235L retained_intron, protein_coding, processed_transcript uc003xgt.4 nonsynonymous SNV exon11 c.C704T p.P235L GSSGVSTPSPPHPQASPKYLGDAFG GSSGVSTPSPPHLQASPKYLGDAFG 6.0 9.0 - - 2369_8:28210805-28210805 G>A_GSSGVSTPSPPHLQASPKYLGDAFG 0.0 6:33164143-33164143 T>C 0.0 4126 NSCLC - - - - RXRB uc011dqu.2,p.Y258C|uc003ode.1,p.Y218C|ENST00000413614,p.Y258C|uc011dqt.2,p.Y354C retained_intron, protein_coding, nonsense_mediated_decay uc011dqu.2 nonsynonymous SNV exon4 c.A773G p.Y258C VMGVGGGSLGLFYIPSPSFPLITFL VMGVGGGSLGLFCIPSPSFPLITFL 7.0 9.0 - - 4126_6:33164143-33164143 T>C_VMGVGGGSLGLFCIPSPSFPLITFL 0.0 1:33794623-33794623 G>A 1.0 3775 CERVICAL - - - - PHC2 ENST00000373416,p.S222L|uc001bxf.1,p.S172L|ENST00000373422,p.S363L|uc009vuh.1,p.S758L|ENST00000257118,p.S757L|uc001bxg.1,p.S757L|NM_004427,p.S222L|uc001bxh.1,p.S729L|ENST00000431992,p.S728L|ENST00000419414,p.S758L|NM_198040,p.S757L|uc001bxe.1,p.S222L|ENST00000373418,p.S222L protein_coding, processed_transcript uc009vuh.1 nonsynonymous SNV exon14 c.C2273T p.S758L SYEEPLSPISASSSTSRRRQGQRDL SYEEPLSPISASLSTSRRRQGQRDL 9.0 9.0 - - 3775_1:33794623-33794623 G>A_SYEEPLSPISASLSTSRRRQGQRDL 0.0 14:90744765-90744765 A>T 1.0 4317 COLORECTAL - - - - NRDE2 uc001xyi.2,p.M1137K|ENST00000354366,p.M1137K|uc001xyj.2,p.M906K|uc010atp.1,p.M642K|ENST00000357904,p.M906K|NM_017970,p.M1137K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010atp.1 nonsynonymous SNV exon10 c.T1925A p.M642K LYLDAVEYFPDEMQEILDLMTEKEL LYLDAVEYFPDEKQEILDLMTEKEL 6.0 3.0 - - 4317_14:90744765-90744765 A>T_LYLDAVEYFPDEKQEILDLMTEKEL 0.0 X:105181531-105181531 G>C 0.0 4158 COLORECTAL - - - - NRK ENST00000428173,p.Q1253H|uc004emd.3,p.Q1252H|uc010npc.1,p.Q920H|ENST00000243300,p.Q1252H|NM_198465,p.Q1252H protein_coding uc010npc.1 nonsynonymous SNV exon22 c.G2760C p.Q920H DITKLIRRRPFRQIQVLEPLNLLIT DITKLIRRRPFRHIQVLEPLNLLIT 3.0 2.0 - - 4158_X:105181531-105181531 G>C_DITKLIRRRPFRHIQVLEPLNLLIT 0.0 10:101128428-101128428 G>C 0.0 4110 BILE DUCT - - - - CNNM1 ENST00000370534,p.G379R|uc010qpi.2,p.G744R protein_coding, processed_transcript uc010qpi.2 nonsynonymous SNV exon7 c.G2230C p.G744R RTFAVSRGDSLAGSPVNRSPSRCSG RTFAVSRGDSLARSPVNRSPSRCSG 4.0 8.0 - - 4110_10:101128428-101128428 G>C_RTFAVSRGDSLARSPVNRSPSRCSG 0.0 8:17137894-17137894 T>C 1.0 4196 COLORECTAL - - - - VPS37A ENST00000521829,p.L279P|uc003wxk.3,p.L279P|ENST00000324849,p.L304P|uc003wxj.3,p.L304P|ENST00000521976,p.L77P|NM_152415,p.L304P|NM_001145152,p.L279P protein_coding, processed_transcript, nonsense_mediated_decay uc003wxk.3 nonsynonymous SNV exon8 c.T836C p.L279P AKRQTVLDKYELLTQMKSTFEKKMQ AKRQTVLDKYELPTQMKSTFEKKMQ 8.0 5.0 - - 4196_8:17137894-17137894 T>C_AKRQTVLDKYELPTQMKSTFEKKMQ 0.0 16:61854870-61854870 G>A 0.0 4186 BREAST - - - - CDH8 ENST00000577730,p.S328F|ENST00000584337,p.S328F|NM_001796,p.S328F|uc002eog.2,p.S328F|ENST00000585315,p.S328F|ENST00000299345,p.S328F|ENST00000577390,p.S328F|ENST00000583382,p.S328F|uc002eoh.3,p.S97F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002eoh.3 nonsynonymous SNV exon3 c.C290T p.S97F IDGDGTALFEITSDAQAQDGIIRLR IDGDGTALFEITFDAQAQDGIIRLR 1.0 10.0 - - 4186_16:61854870-61854870 G>A_IDGDGTALFEITFDAQAQDGIIRLR 0.0 5:52367856-52367856 C>T 1.0 4189 MELANOMA - - - - ITGA2 ENST00000296585,p.S775F|uc003joy.3,p.S775F|NM_002203,p.S775F|uc011cqc.2,p.S699F|ENST00000510722,p.S775F|ENST00000509814,p.S775F protein_coding, nonsense_mediated_decay uc011cqc.2 nonsynonymous SNV exon17 c.C2096T p.S699F ENPGTSPALEAYSETAKVFSIPFHK ENPGTSPALEAYFETAKVFSIPFHK 7.0 10.0 - - 4189_5:52367856-52367856 C>T_ENPGTSPALEAYFETAKVFSIPFHK 0.0 11:20699537-20699537 G>T 0.0 4346 COLORECTAL - - - - NELL1 uc010rdo.2,p.V39L|NM_001288714,p.V39L|ENST00000532434,p.V39L|ENST00000357134,p.V39L|ENST00000325319,p.V39L|ENST00000298925,p.V67L|NM_001288713,p.V67L|uc001mqe.3,p.V39L|uc001mqf.3,p.V39L|NM_006157,p.V39L|NM_201551,p.V39L|uc009yid.3,p.V67L retained_intron, protein_coding, processed_transcript uc010rdo.2 nonsynonymous SNV exon2 c.G115T p.V39L DLQMDIVTELDLVNTTLGVAQVSGM DLQMDIVTELDLLNTTLGVAQVSGM 1.0 3.0 - - 4346_11:20699537-20699537 G>T_DLQMDIVTELDLLNTTLGVAQVSGM 0.0 19:58117272-58117282 TTCTGGATGAG>- 0.0 4252 COLORECTAL - - - - ZNF530 NM_020880,p.F127fs|uc002qpk.2,p.F127fs|ENST00000332854,p.F127fs|ENST00000600619,p.F127fs retained_intron, protein_coding, nonsense_mediated_decay uc002qpk.2 frameshift deletion exon3 c.379_389del p.F127fs GQKLYLGGASRDFWMSSNLHQLQKL GQKLYLGGASRDFKPSPAPEA 8.0 8.0 - - 4252_19:58117272-58117282 TTCTGGATGAG>-_GQKLYLGGASRDFKPSPAPEA 0.0 9:35548146-35548146 C>T 1.0 3713 MELANOMA - - - - RUSC2 ENST00000361226,p.S543F|uc003zwx.4,p.S543F|NM_014806,p.S543F|NM_001135999,p.S543F|ENST00000455600,p.S543F|uc003zww.3,p.S543F protein_coding, processed_transcript uc003zwx.4 nonsynonymous SNV exon2 c.C1628T p.S543F MAGPGSPPRRVTSFAELAKGRKKTG MAGPGSPPRRVTFFAELAKGRKKTG 5.0 3.0 - - 3713_9:35548146-35548146 C>T_MAGPGSPPRRVTFFAELAKGRKKTG 0.0 16:460246-460246 C>T 0.0 4235 COLORECTAL 0.0005 - - - DECR2 uc002chb.3,p.A114V|ENST00000424398,p.A102V|uc002chd.3,p.A30V|ENST00000219481,p.A114V|uc002chc.3,p.A30V|NM_020664,p.A114V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002chd.3 nonsynonymous SNV exon7 c.C89T p.A30V KEFGRIDILINCAAGNFLCPAGALS KEFGRIDILINCVAGNFLCPAGALS 6.0 1.0 - - 4235_16:460246-460246 C>T_KEFGRIDILINCVAGNFLCPAGALS 0.0 4:15444302-15444302 T>G 0.0 4278 COLORECTAL - - - - C1QTNF7 ENST00000429690,p.F250C|uc003gnp.3,p.F250C|ENST00000444304,p.F250C|ENST00000295297,p.F257C|uc011bxb.2,p.F250C|uc003gno.3,p.F257C|NM_001135171,p.F250C|NM_001135170,p.F257C|NM_031911,p.F250C protein_coding, processed_transcript uc011bxb.2 nonsynonymous SNV exon3 c.T749G p.F250C YLQPEDEVWLEIFFTDQNGLFSDPG YLQPEDEVWLEICFTDQNGLFSDPG 4.0 6.0 - - 4278_4:15444302-15444302 T>G_YLQPEDEVWLEICFTDQNGLFSDPG 0.0 2:172314925-172314925 G>A 1.0 4110 BILE DUCT - - - - DCAF17 ENST00000539783,p.G259D|ENST00000375255,p.G259D|uc002ugx.3,p.G259D|NM_025000,p.G259D|uc010fqf.2,p.G259D|NM_001164821,p.G259D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010fqf.2 nonsynonymous SNV exon8 c.G776A p.G259D QQKLDLGCACRWGGTTGTVGEAPFG QQKLDLGCACRWDGTTGTVGEAPFG 9.0 10.0 - - 4110_2:172314925-172314925 G>A_QQKLDLGCACRWDGTTGTVGEAPFG 0.0 2:24297040-24297040 G>A 1.0 4234 NSCLC - - - - SF3B6 uc002rev.3,p.R19W|ENST00000233468,p.R19W|NM_016047,p.R19W retained_intron, protein_coding uc002rev.3 nonsynonymous SNV exon2 c.C55T p.R19W KRANIRLPPEVNRILYIRNLPYKIT KRANIRLPPEVNWILYIRNLPYKIT 10.0 1.0 - - 4234_2:24297040-24297040 G>A_KRANIRLPPEVNWILYIRNLPYKIT 0.0 2:141680548-141680548 G>A 0.0 3903 MELANOMA - - - 1 LRP1B NM_018557,p.S1102F|ENST00000389484,p.S1102F|ENST00000434794,p.S247F|uc002tvj.1,p.S1102F|uc010fnl.1,p.S284F protein_coding, processed_transcript uc010fnl.1 nonsynonymous SNV exon6 c.C851T p.S284F GTIRLCDHKTKFSCWSTGRCINKAW GTIRLCDHKTKFFCWSTGRCINKAW 1.0 3.0 - - 3903_2:141680548-141680548 G>A_GTIRLCDHKTKFFCWSTGRCINKAW 0.0 13:100211702-100211702 C>T 1.0 3466 MELANOMA - - - - TM9SF2 NM_004800,p.S613L|ENST00000376387,p.S613L|uc001voj.2,p.S613L|uc010afz.2,p.S448L protein_coding, processed_transcript uc010afz.2 nonsynonymous SNV exon12 c.C1343T p.S448L VYFLIYAVHYFFSKLQITGTASTIL VYFLIYAVHYFFLKLQITGTASTIL 10.0 9.0 - - 3466_13:100211702-100211702 C>T_VYFLIYAVHYFFLKLQITGTASTIL 0.0 8:142367077-142367077 C>T 0.0 4316 COLORECTAL - - - - GPR20 uc003ywf.3,p.G316E|uc022bby.1,p.G316E|ENST00000377741,p.G316E|NM_005293,p.G316E protein_coding uc022bby.1 nonsynonymous SNV exon1 c.G947A p.G316E FQATVRGLFGQHGEREPSSGDVVSM FQATVRGLFGQHEEREPSSGDVVSM 2.0 10.0 - - 4316_8:142367077-142367077 C>T_FQATVRGLFGQHEEREPSSGDVVSM 0.0 4:20482373-20482373 G>A 0.0 3713 MELANOMA - - - - SLIT2 uc003gps.1,p.D168N|ENST00000504154,p.D168N|ENST00000508824,p.D129N|NM_001289136,p.D168N|NM_001289135,p.D168N|uc003gpr.1,p.D168N|ENST00000503823,p.D168N|ENST00000273739,p.D168N|NM_004787,p.D168N|ENST00000503837,p.D168N retained_intron, protein_coding, processed_transcript uc003gps.1 nonsynonymous SNV exon6 c.G502A p.D168N LQLDYNQISCIEDGAFRALRDLEVL LQLDYNQISCIENGAFRALRDLEVL 3.0 5.0 - - 3713_4:20482373-20482373 G>A_LQLDYNQISCIENGAFRALRDLEVL 0.0 3:132202230-132202230 G>C 0.0 4234 NSCLC - - - - DNAJC13 uc003eor.3,p.L997F|NM_015268,p.L997F|ENST00000260818,p.L997F|ENST00000506813,p.L94F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003eor.3 nonsynonymous SNV exon28 c.G2991C p.L997F RSGPYGFHEMQELWTKGMLNAKTRC RSGPYGFHEMQEFWTKGMLNAKTRC 8.0 3.0 - - 4234_3:132202230-132202230 G>C_RSGPYGFHEMQEFWTKGMLNAKTRC 0.0 17:7700524-7700524 G>A 0.0 3903 MELANOMA - - - - DNAH2 ENST00000572933,p.D2632N|ENST00000389173,p.D2632N|uc002giu.1,p.D2632N|NM_020877,p.D2632N retained_intron, protein_coding, nonsense_mediated_decay uc002giu.1 nonsynonymous SNV exon50 c.G7894A p.D2632N SKVFQGMLRANKDFHDTKSSITRLW SKVFQGMLRANKNFHDTKSSITRLW 4.0 9.0 - - 3903_17:7700524-7700524 G>A_SKVFQGMLRANKNFHDTKSSITRLW 0.0 5:109974042-109974042 G>A 1.0 4000 MELANOMA - - - - TMEM232 ENST00000511883,p.L120F|ENST00000429839,p.L120F|ENST00000515278,p.L120F|ENST00000455884,p.L120F|uc011cvh.2,p.L120F|NM_001039763,p.L120F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cvh.2 nonsynonymous SNV exon5 c.C358T p.L120F CKGEIQDESLNMLYASLDHASFDYD CKGEIQDESLNMFYASLDHASFDYD 5.0 8.0 - - 4000_5:109974042-109974042 G>A_CKGEIQDESLNMFYASLDHASFDYD 0.0 17:7460168-7460168 G>C 0.0 3919 MELANOMA - - - - TNFSF12,TNFSF12-TNFSF13 uc002ghi.1,p.Q149H|ENST00000557233,p.Q149H|ENST00000293825,p.Q149H|ENST00000293826,p.Q149H|NM_172089,p.Q149H|uc002ghg.3,p.Q149H|NM_003809,p.Q149H protein_coding, processed_transcript, nonsense_mediated_decay uc002ghi.1 nonsynonymous SNV exon6 c.G447C p.Q149H RINSSSPLRYNRQIGEFIVTRAGLY RINSSSPLRYNRHIGEFIVTRAGLY 8.0 3.0 - - 3919_17:7460168-7460168 G>C_RINSSSPLRYNRHIGEFIVTRAGLY 0.0 12:57389777-57389777 G>A 0.0 4078 GASTRIC - - - - GPR182 ENST00000300098,p.A262T|uc021qzf.1,p.A262T|uc001smk.3,p.A262T|NM_007264,p.A262T protein_coding uc021qzf.1 nonsynonymous SNV exon1 c.G784A p.A262T QPKSRRHCLLLCAYVAVFVMCWLPY QPKSRRHCLLLCTYVAVFVMCWLPY 1.0 10.0 - - 4078_12:57389777-57389777 G>A_QPKSRRHCLLLCTYVAVFVMCWLPY 0.0 14:24845904-24845904 C>T 1.0 3713 MELANOMA - - - - NFATC4 ENST00000556759,p.P356S|ENST00000422617,p.P809S|ENST00000555167,p.P356S|uc001wpc.3,p.P821S|ENST00000424781,p.P834S|uc010tol.2,p.P884S|uc010top.2,p.P853S|NM_001198966,p.P751S|uc010ton.2,p.P834S|ENST00000555590,p.P834S|NM_004554,p.P821S|ENST00000553708,p.P821S|ENST00000557451,p.P751S|uc010alt.3,p.P853S|ENST00000555802,p.P109S|uc010tok.2,p.P884S|ENST00000554344,p.P751S|ENST00000555453,p.P809S|uc010tos.2,p.P751S|NM_001288802,p.P809S|ENST00000553879,p.P751S|uc010alv.3,p.P809S|uc010tot.2,p.P809S|uc010tox.2,p.P751S|uc010tou.2,p.P751S|ENST00000413692,p.P884S|NM_001136022,p.P884S|uc010tom.2,p.P834S|uc010toz.2,p.P356S|ENST00000250373,p.P821S|ENST00000539237,p.P853S|uc001wpd.3,p.P356S|ENST00000556279,p.P853S|ENST00000555393,p.P109S|uc010tpb.2,p.P109S|uc010tpa.2,p.P109S retained_intron, protein_coding, processed_transcript uc010tpb.2 nonsynonymous SNV exon4 c.C325T p.P109S APFRPPPLPASPPLEGPFPSQSDVH APFRPPPLPASPSLEGPFPSQSDVH 4.0 4.0 - - 3713_14:24845904-24845904 C>T_APFRPPPLPASPSLEGPFPSQSDVH 0.0 12:7173169-7173169 C>T 1.0 3466 MELANOMA - - - - C1S uc009zfr.3,p.P89S|NM_001734,p.P256S|uc001qsj.3,p.P256S|ENST00000402681,p.P89S|ENST00000328916,p.P256S|ENST00000542978,p.P89S|uc001qsk.3,p.P256S|uc001qsl.3,p.P256S|NM_201442,p.P256S|ENST00000360817,p.P256S|ENST00000406697,p.P256S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009zfr.3 nonsynonymous SNV exon6 c.C265T p.P89S DRQFGPYCGHGFPGPLNIETKSNAL DRQFGPYCGHGFSGPLNIETKSNAL 10.0 4.0 - - 3466_12:7173169-7173169 C>T_DRQFGPYCGHGFSGPLNIETKSNAL 0.0 5:71627141-71627141 T>A 1.0 3713 MELANOMA - - - - PTCD2 ENST00000543322,p.F136Y|uc003kcb.3,p.F136Y|ENST00000308077,p.F136Y|NM_024754,p.F136Y|ENST00000515198,p.F136Y|ENST00000380639,p.F136Y protein_coding, processed_transcript, nonsense_mediated_decay uc003kcb.3 nonsynonymous SNV exon4 c.T407A p.F136Y NFTLGEYKFGPLFVRLCYELDLEES NFTLGEYKFGPLYVRLCYELDLEES 4.0 7.0 - - 3713_5:71627141-71627141 T>A_NFTLGEYKFGPLYVRLCYELDLEES 0.0 22:38122090-38122090 C>T 0.0 2369 MELANOMA - - - - TRIOBP uc003atq.1,p.S1176F|uc003ats.1,p.S1004F|NM_001039141,p.S1176F|uc003atu.3,p.S1004F|ENST00000406386,p.S1176F|uc003atr.3,p.S1176F retained_intron, protein_coding, nonsense_mediated_decay uc003atu.3 nonsynonymous SNV exon5 c.C3011T p.S1004F VCIGHRDAPSFSSPPRQAPEPSLFF VCIGHRDAPSFSFPPRQAPEPSLFF 8.0 8.0 - - 2369_22:38122090-38122090 C>T_VCIGHRDAPSFSFPPRQAPEPSLFF 0.0 1:196643034-196643034 C>A 0.0 4258 ENDOMETRIAL - - - - CFH uc009wyx.3,p.L98I|NM_000186,p.L98I|uc001gtj.4,p.L98I|ENST00000439155,p.L98I|uc009wyw.3,p.L98I|ENST00000367429,p.L98I|uc001gti.4,p.L98I|NM_001014975,p.L98I|ENST00000359637,p.L98I retained_intron, protein_coding, ambiguous_orf uc009wyx.3 nonsynonymous SNV exon3 c.C292A p.L98I GHPGDTPFGTFTLTGGNVFEYGVKA GHPGDTPFGTFTITGGNVFEYGVKA 8.0 4.0 - - 4258_1:196643034-196643034 C>A_GHPGDTPFGTFTITGGNVFEYGVKA 0.0 4:66280083-66280083 A>C 0.0 4258 ENDOMETRIAL - - - - EPHA5 uc011cai.2,p.Y536D|uc003hcz.3,p.Y536D|NM_004439,p.Y536D|NM_001281767,p.Y536D|NM_001281765,p.Y536D|NM_182472,p.Y536D|ENST00000511294,p.Y536D|uc011cah.2,p.Y536D|ENST00000354839,p.Y536D|uc003hcy.3,p.Y536D|NM_001281766,p.Y536D|ENST00000432638,p.Y372D|ENST00000273854,p.Y536D|uc003hda.2,p.Y536D|uc003hcx.3,p.Y467D protein_coding uc011cai.2 nonsynonymous SNV exon7 c.T1606G p.Y536D TITAEGLKPASVYVFQIRARTAAGY TITAEGLKPASVDVFQIRARTAAGY 1.0 7.0 - - 4258_4:66280083-66280083 A>C_TITAEGLKPASVDVFQIRARTAAGY 0.0 15:99482538-99482538 C>T 1.0 3713 MELANOMA - - - - IGF1R uc002bul.3,p.L1136F|ENST00000558762,p.L1135F|NM_000875,p.L1136F|NM_001291858,p.L1135F|uc010bon.3,p.L1135F|ENST00000268035,p.L1136F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010bon.3 nonsynonymous SNV exon18 c.C3403T p.L1135F AYLNANKFVHRDLAARNCMVAEDFT AYLNANKFVHRDFAARNCMVAEDFT 8.0 6.0 - - 3713_15:99482538-99482538 C>T_AYLNANKFVHRDFAARNCMVAEDFT 0.0 10:32740760-32740760 C>T 0.0 4345 COLORECTAL - - - - CCDC7 ENST00000362006,p.R64W|uc001iwj.3,p.R64W|ENST00000545067,p.R64W|ENST00000476558,p.R64W|uc001iwk.3,p.R64W|ENST00000277657,p.R64W|uc009xlx.1,p.R64W|NM_145023,p.R64W|ENST00000535327,p.R64W|NM_001026383,p.R64W|ENST00000537047,p.R64W|ENST00000539197,p.R64W protein_coding, processed_transcript, nonsense_mediated_decay uc009xlx.1 nonsynonymous SNV exon1 c.C190T p.R64W VLRSPPTGESILRYALPIPSSKTKN VLRSPPTGESILWYALPIPSSKTKN 5.0 10.0 - - 4345_10:32740760-32740760 C>T_VLRSPPTGESILWYALPIPSSKTKN 0.0 11:102401365-102401365 C>T 0.0 4189 MELANOMA - - - - MMP7 uc009yxd.3,p.E23K|ENST00000260227,p.E23K|uc001phb.3,p.E23K|uc010rus.1,p.E23K|NM_002423,p.E23K retained_intron, protein_coding uc010rus.1 nonsynonymous SNV exon1 c.G67A p.E23K LLPGSLALPLPQEAGGMSELQWEQA LLPGSLALPLPQKAGGMSELQWEQA 6.0 9.0 - - 4189_11:102401365-102401365 C>T_LLPGSLALPLPQKAGGMSELQWEQA 0.0 16:10996020-10996020 G>A 1.0 3919 MELANOMA - - - 1 CIITA NM_001286402,p.E204K|uc010bup.1,p.E203K|uc002daj.4,p.E204K|uc002dai.4,p.E203K|uc002dag.2,p.E203K|ENST00000324288,p.E203K|NM_000246,p.E203K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010bup.1 nonsynonymous SNV exon7 c.G607A p.E203K FNQEPASGQMRLEKTDQIPMPFSSS FNQEPASGQMRLKKTDQIPMPFSSS 10.0 4.0 - - 3919_16:10996020-10996020 G>A_FNQEPASGQMRLKKTDQIPMPFSSS 0.0 19:4323619-4323619 C>G 0.0 4258 ENDOMETRIAL - - - - FSD1 NM_024333,p.S490R|uc002lzy.2,p.S490R|uc002maa.2,p.S303R|ENST00000221856,p.S490R retained_intron, protein_coding, processed_transcript uc002maa.2 nonsynonymous SNV exon7 c.C909G p.S303R VRCLQKRGSATSSSNTSLT VRCLQKRGSATSRSNTSLT 3.0 8.0 - - 4258_19:4323619-4323619 C>G_VRCLQKRGSATSRSNTSLT 0.0 9:139350568-139350568 T>G 1.0 4284 COLORECTAL - - - - SEC16A ENST00000313050,p.E1867D|uc004chv.4,p.E1257D|uc004chx.3,p.E1867D|uc004chw.3,p.E1867D|NM_014866,p.E1867D|NM_001276418,p.E1867D|ENST00000290037,p.E1689D|ENST00000277537,p.E261D|ENST00000371706,p.E1689D|uc010nbn.3,p.E1867D|ENST00000453963,p.E589D|ENST00000431893,p.E1689D|uc004chu.3,p.E52D protein_coding, processed_transcript uc010nbn.3 nonsynonymous SNV exon18 c.A5601C p.E1867D LRLFDPQLKEKPEEESLAAPTWLVH LRLFDPQLKEKPDEESLAAPTWLVH 8.0 6.0 - - 4284_9:139350568-139350568 T>G_LRLFDPQLKEKPDEESLAAPTWLVH 0.0 X:105279269-105279269 A>G 1.0 4278 COLORECTAL - - - - SERPINA7 uc010npe.2,p.Y244H|ENST00000372563,p.Y244H|ENST00000327674,p.Y244H|NM_000354,p.Y244H|uc010npd.3,p.Y244H|uc004eme.2,p.Y244H protein_coding, processed_transcript uc010npe.2 nonsynonymous SNV exon3 c.T730C p.Y244H TVQVPMMHQMEQYYHLVDMELNCTV TVQVPMMHQMEQHYHLVDMELNCTV 5.0 9.0 - - 4278_X:105279269-105279269 A>G_TVQVPMMHQMEQHYHLVDMELNCTV 0.0 11:124013167-124013167 T>C 1.0 2369 MELANOMA - - - - VWA5A uc001pzt.3,p.L681P|ENST00000392748,p.L681P|NM_014622,p.L681P|ENST00000456829,p.L681P|NM_001130142,p.L681P|uc001pzu.3,p.L681P retained_intron, protein_coding uc001pzu.3 nonsynonymous SNV exon17 c.T2042C p.L681P KDQHSPGFGENHLVQLIYHQNANGS KDQHSPGFGENHPVQLIYHQNANGS 6.0 9.0 - - 2369_11:124013167-124013167 T>C_KDQHSPGFGENHPVQLIYHQNANGS 0.0 10:8007211-8007211 C>T 1.0 3713 MELANOMA - - - - TAF3 ENST00000344293,p.L580F|NM_031923,p.L580F|uc010qbd.3,p.L580F protein_coding uc010qbd.3 nonsynonymous SNV exon3 c.C1738T p.L580F TGRETKYPWKEFLKEEEADPYKFKI TGRETKYPWKEFFKEEEADPYKFKI 4.0 5.0 - - 3713_10:8007211-8007211 C>T_TGRETKYPWKEFFKEEEADPYKFKI 0.0 17:30348769-30348769 C>T 0.0 2591 MELANOMA - - - - LRRC37B ENST00000543378,p.L120F|ENST00000394713,p.L202F|ENST00000327564,p.L229F|uc031qzu.1,p.L120F|NM_052888,p.L202F|ENST00000578674,p.L214F|uc031qzs.1,p.L120F|uc010wbx.2,p.L120F|ENST00000584368,p.L214F|ENST00000341671,p.L202F|uc010csu.3,p.L202F|uc002hgu.3,p.L202F|ENST00000579206,p.L120F|ENST00000583342,p.L184F|uc031qzt.1,p.L120F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031qzu.1 nonsynonymous SNV exon1 c.C358T p.L120F KNLKKDLAERWSLPEIVGIPHQLSK KNLKKDLAERWSFPEIVGIPHQLSK 6.0 3.0 - - 2591_17:30348769-30348769 C>T_KNLKKDLAERWSFPEIVGIPHQLSK 0.0 13:78475284-78475284 G>A 0.0 4155 MELANOMA - - - - EDNRB NM_000115,p.A287V|ENST00000446573,p.A287V|ENST00000377211,p.A377V|NM_003991,p.A287V|uc010aez.1,p.A287V|uc001vko.2,p.A287V|uc001vkp.1,p.A377V|ENST00000334286,p.A287V|uc001vkq.1,p.A287V|NM_001122659,p.A287V|NM_001201397,p.A377V protein_coding, processed_transcript uc010aez.1 nonsynonymous SNV exon4 c.C860T p.A287V WWLFSFYFCLPLAITAFFYTLMTCE WWLFSFYFCLPLVITAFFYTLMTCE 8.0 4.0 CD8 - 4155_13:78475284-78475284 G>A_WWLFSFYFCLPLVITAFFYTLMTCE 2.0 14:24458197-24458197 G>A 1.0 4213 COLORECTAL - - - - DHRS4L2 uc001wli.4,p.R14Q|ENST00000558753,p.R14Q|ENST00000545240,p.R14Q|ENST00000559411,p.R14Q|ENST00000537912,p.R14Q|ENST00000335125,p.R14Q|NM_198083,p.R14Q|ENST00000397071,p.R14Q retained_intron, protein_coding uc001wli.4 nonsynonymous SNV exon1 c.G41A p.R14Q QMARLLGLCAWARKSVRMASSRMTR QMARLLGLCAWAQKSVRMASSRMTR 8.0 10.0 - - 4213_14:24458197-24458197 G>A_QMARLLGLCAWAQKSVRMASSRMTR 0.0 X:155003925-155003925 G>A 1.0 3879 MELANOMA - - - - SPRY3 uc004fnq.1,p.G131E|ENST00000302805,p.G131E|uc022cio.1,p.G131E|NM_005840,p.G131E protein_coding uc022cio.1 nonsynonymous SNV exon1 c.G392A p.G131E AGVHPKADGALKGEAEQSAGHPSEH AGVHPKADGALKEEAEQSAGHPSEH 4.0 7.0 - - 3879_X:155003925-155003925 G>A_AGVHPKADGALKEEAEQSAGHPSEH 0.0 20:44639917-44639925 ACGACACCG>- 0.0 4252 COLORECTAL - - - - MMP9 ENST00000372330,p.262_265del|NM_004994,p.262_265del|uc002xqz.3,p.262_265del protein_coding uc002xqz.3 nonframeshift deletion exon5 c.785_793del p.262_265del SDGLPWCSTTANYDTDDRFGFCPSE SDGLPWCSTTANYDRFGFCPSERLY 9.0 6.0 - - 4252_20:44639917-44639925 ACGACACCG>-_SDGLPWCSTTANYDRFGFCPSERLY 0.0 15:40241380-40241380 C>T 1.0 3466 MELANOMA - - - - EIF2AK4 ENST00000263791,p.P142S|uc001zkl.3,p.P142S|ENST00000559624,p.P142S|ENST00000382727,p.P142S|NM_001013703,p.P142S|uc001zkm.1,p.P142S retained_intron, protein_coding, processed_transcript, TEC uc001zkm.1 nonsynonymous SNV exon4 c.C424T p.P142S VQSFLSEHNKPPPKSFHEEMLERRA VQSFLSEHNKPPSKSFHEEMLERRA 8.0 2.0 - - 3466_15:40241380-40241380 C>T_VQSFLSEHNKPPSKSFHEEMLERRA 0.0 15:74636306-74636306 C>T 0.0 4298 COLORECTAL - - - - CYP11A1 ENST00000566674,p.R60H|uc010bjm.1,p.R60H|uc002axt.2,p.R218H|NM_001099773,p.R60H|ENST00000358632,p.R60H|uc002axs.2,p.R60H|NM_000781,p.R218H|ENST00000450547,p.R60H|ENST00000435365,p.R218H|ENST00000268053,p.R218H|ENST00000419019,p.R60H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010bjm.1 nonsynonymous SNV exon3 c.G179A p.R60H AFESITNVIFGERQGMLEEVVNPEA AFESITNVIFGEHQGMLEEVVNPEA 3.0 6.0 - - 4298_15:74636306-74636306 C>T_AFESITNVIFGEHQGMLEEVVNPEA 0.0 4:52861143-52861143 G>A 0.0 4235 COLORECTAL - - - - LRRC66 uc003gzi.3,p.A682V|NM_001024611,p.A682V|ENST00000343457,p.A682V protein_coding uc003gzi.3 nonsynonymous SNV exon4 c.C2045T p.A682V PPRWDSGLDVTPANKEPVQKSTPSD PPRWDSGLDVTPVNKEPVQKSTPSD 4.0 5.0 - - 4235_4:52861143-52861143 G>A_PPRWDSGLDVTPVNKEPVQKSTPSD 0.0 17:48243435-48243435 G>A 0.0 4316 COLORECTAL - - - - SGCA ENST00000514934,p.V12M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000514934 nonsynonymous SNV exon1 c.G34A p.V12M MAETLFWTPLLVGKLGPCSAGRPR MAETLFWTPLLMGKLGPCSAGRPR 2.0 7.0 - - 4316_17:48243435-48243435 G>A_MAETLFWTPLLMGKLGPCSAGRPR 0.0 13:95112365-95112365 C>T 0.0 4346 COLORECTAL - - - - DCT uc001vlv.4,p.A387T|NM_001922,p.A387T|ENST00000377028,p.A387T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001vlv.4 nonsynonymous SNV exon6 c.G1159A p.A387T FLNGTNALPHSAANDPIFVVLHSFT FLNGTNALPHSATNDPIFVVLHSFT 2.0 1.0 - - 4346_13:95112365-95112365 C>T_FLNGTNALPHSATNDPIFVVLHSFT 0.0 7:5540263-5540263 G>A 0.0 4158 COLORECTAL - - - - FBXL18 ENST00000382368,p.T546M|uc003son.4,p.T546M|NM_024963,p.T546M|ENST00000415009,p.T546M|uc003soo.2,p.T546M|ENST00000453700,p.T546M protein_coding, nonsense_mediated_decay uc003soo.2 nonsynonymous SNV exon3 c.C1637T p.T546M RHLTLAQLPSVLTGSGLVNIGLQCQ RHLTLAQLPSVLMGSGLVNIGLQCQ 7.0 4.0 - - 4158_7:5540263-5540263 G>A_RHLTLAQLPSVLMGSGLVNIGLQCQ 0.0 5:140740222-140740222 G>C 0.0 4240 BREAST - - - - PCDHGB2 NM_032096,p.D174H|uc011dar.2,p.D174H|NM_018923,p.D174H|uc003ljs.2,p.D174H|ENST00000522605,p.D174H protein_coding uc011dar.2 nonsynonymous SNV exon1 c.G520C p.D174H VGPNSLQRYHLNDNEYFDLAEKQTP VGPNSLQRYHLNHNEYFDLAEKQTP 5.0 9.0 - - 4240_5:140740222-140740222 G>C_VGPNSLQRYHLNHNEYFDLAEKQTP 0.0 4:108824510-108824510 C>T 1.0 4252 COLORECTAL - - - - SGMS2 NM_152621,p.T232M|uc003hyn.3,p.T232M|NM_001136257,p.T232M|NM_001136258,p.T232M|ENST00000394686,p.T232M|ENST00000359079,p.T232M|uc003hyo.3,p.T232M|ENST00000503862,p.T59M|ENST00000394684,p.T232M|uc003hyl.4,p.T232M protein_coding, processed_transcript uc003hyo.3 nonsynonymous SNV exon4 c.C695T p.T232M LCGDFLFSGHTVTLTLTYLFIKEYS LCGDFLFSGHTVMLTLTYLFIKEYS 6.0 10.0 - - 4252_4:108824510-108824510 C>T_LCGDFLFSGHTVMLTLTYLFIKEYS 0.0 14:72128139-72128139 T>C 1.0 4110 BILE DUCT - - - - SIPA1L1 uc001xmv.3,p.V737A|uc001xmt.3,p.V737A|ENST00000537413,p.V212A|ENST00000381232,p.V737A|uc001xmu.3,p.V737A|ENST00000555818,p.V737A|NM_001284246,p.V737A|NM_001284247,p.V737A|NM_001284245,p.V737A|uc001xms.3,p.V737A|uc010ttm.2,p.V212A|NM_015556,p.V737A|ENST00000358550,p.V737A retained_intron, protein_coding, processed_transcript uc010ttm.2 nonsynonymous SNV exon6 c.T635C p.V212A PKNIRSHFQHVFVIVRVHNPCSDSV PKNIRSHFQHVFAIVRVHNPCSDSV 7.0 9.0 - - 4110_14:72128139-72128139 T>C_PKNIRSHFQHVFAIVRVHNPCSDSV 0.0 14:105414996-105414996 G>C 1.0 4316 COLORECTAL - - - - AHNAK2 uc001ypx.2,p.D2164E|ENST00000333244,p.D2264E|NM_138420,p.D2264E|uc010axc.1,p.D2264E retained_intron, protein_coding uc010axc.1 nonsynonymous SNV exon7 c.C6792G p.D2264E KGPEIDIKGPKLDLKDPKVEVTAPD KGPEIDIKGPKLELKDPKVEVTAPD 10.0 9.0 - - 4316_14:105414996-105414996 G>C_KGPEIDIKGPKLELKDPKVEVTAPD 0.0 2:131414737-131414737 A>G 0.0 4326 BREAST - rs4531942 - - POTEJ NM_001277083,p.M802V|ENST00000409602,p.M802V|uc021vor.2,p.M802V protein_coding uc021vor.2 nonsynonymous SNV exon15 c.A2404G p.M802V FNTPAMYVAIQAMLSLYTSGRTTGI FNTPAMYVAIQAVLSLYTSGRTTGI 9.0 4.0 - - 4326_2:131414737-131414737 A>G_FNTPAMYVAIQAVLSLYTSGRTTGI 0.0 17:7758773-7758773 C>T 0.0 2556 MELANOMA - - - - TMEM88 uc002giy.3,p.S74F|NM_203411,p.S74F|ENST00000301599,p.S74F protein_coding uc002giy.3 nonsynonymous SNV exon2 c.C221T p.S74F GFGFLCHSQFLRSQAPPCTAHLRDP GFGFLCHSQFLRFQAPPCTAHLRDP 3.0 7.0 - - 2556_17:7758773-7758773 C>T_GFGFLCHSQFLRFQAPPCTAHLRDP 0.0 7:98449098-98449098 C>T 0.0 4266 COLORECTAL - - ID=COSM602952;OCCURENCE=1(lung) - TMEM130 uc011kiq.2,p.E299K|uc003upn.3,p.E216K|uc003upo.3,p.E318K|ENST00000345589,p.E216K|uc011kir.2,p.E318K|ENST00000450876,p.E234K|NM_001134451,p.E216K|ENST00000416379,p.E318K|ENST00000339375,p.E318K|NM_001134450,p.E318K|NM_152913,p.E318K|ENST00000546258,p.E299K protein_coding, processed_transcript uc011kir.2 nonsynonymous SNV exon6 c.G952A p.E318K RDPGDYCFSIRAENIISKTHQYHKI RDPGDYCFSIRAKNIISKTHQYHKI 3.0 9.0 - - 4266_7:98449098-98449098 C>T_RDPGDYCFSIRAKNIISKTHQYHKI 0.0 6:107390917-107390917 G>A 1.0 4298 COLORECTAL - - - - BEND3 ENST00000429433,p.P493L|uc003prs.2,p.P493L|NM_001080450,p.P493L|ENST00000369042,p.P493L protein_coding uc003prs.2 nonsynonymous SNV exon5 c.C1478T p.P493L EGLGLDAGSEGDPPRDDCYDSSSLP EGLGLDAGSEGDLPRDDCYDSSSLP 5.0 10.0 - - 4298_6:107390917-107390917 G>A_EGLGLDAGSEGDLPRDDCYDSSSLP 0.0 16:25704453-25704453 A>G 0.0 4078 GASTRIC - - - - HS3ST4 uc002dof.3,p.K239E|NM_006040,p.K239E|ENST00000331351,p.K239E protein_coding, processed_transcript uc002dof.3 nonsynonymous SNV exon1 c.A715G p.K239E GVEPHFFDRNYEKGLEWYRNVMPKT GVEPHFFDRNYEEGLEWYRNVMPKT 1.0 6.0 - - 4078_16:25704453-25704453 A>G_GVEPHFFDRNYEEGLEWYRNVMPKT 0.0 17:18023807-18023807 G>A 0.0 4160 COLORECTAL - - - - MYO15A uc021trl.1,p.V565M|ENST00000205890,p.V565M|NM_016239,p.V565M|uc021trm.1,p.V565M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021trm.1 nonsynonymous SNV exon1 c.G1693A p.V565M RGLGFGPEFGRPVPRPATSLARFLK RGLGFGPEFGRPMPRPATSLARFLK 2.0 5.0 - - 4160_17:18023807-18023807 G>A_RGLGFGPEFGRPMPRPATSLARFLK 0.0 14:44974495-44974495 C>T 0.0 3795 MELANOMA - - - - FSCB NM_032135,p.G566R|uc001wvn.3,p.G566R|ENST00000340446,p.G566R protein_coding uc001wvn.3 nonsynonymous SNV exon1 c.G1696A p.G566R EAPAEVQSPSAKGVSIEEAPLELQP EAPAEVQSPSAKRVSIEEAPLELQP 1.0 8.0 - - 3795_14:44974495-44974495 C>T_EAPAEVQSPSAKRVSIEEAPLELQP 0.0 8:24771437-24771437 C>T 0.0 4301 MELANOMA - - - - NEFM ENST00000221166,p.S44L|uc011lac.1,p.S44L|uc003xed.4,p.S44L|ENST00000518131,p.S44L|NM_005382,p.S44L|ENST00000437366,p.S44L protein_coding, processed_transcript uc011lac.1 nonsynonymous SNV exon1 c.C131T p.S44L SSGFRSQSWSRGSPSTVSSSYKRSM SSGFRSQSWSRGLPSTVSSSYKRSM 3.0 4.0 - - 4301_8:24771437-24771437 C>T_SSGFRSQSWSRGLPSTVSSSYKRSM 0.0 11:99715643-99715643 G>T 0.0 4081 COLORECTAL - - - - CNTN5 ENST00000524871,p.D113Y|ENST00000527185,p.D113Y|NM_014361,p.D113Y|ENST00000528682,p.D113Y|ENST00000418526,p.D39Y|NM_175566,p.D39Y|ENST00000279463,p.D113Y|uc001pfz.3,p.D113Y|NM_001243270,p.D113Y|uc021qpc.1,p.D39Y|uc021qpb.1,p.D113Y|uc001pga.3,p.D113Y|uc009ywv.2,p.D113Y|NM_001243271,p.D113Y retained_intron, protein_coding, processed_transcript uc021qpc.1 nonsynonymous SNV exon2 c.G115T p.D39Y FVQEPDDIIFPTDSDEKKVALNCEV FVQEPDDIIFPTYSDEKKVALNCEV 1.0 3.0 - - 4081_11:99715643-99715643 G>T_FVQEPDDIIFPTYSDEKKVALNCEV 0.0 11:121416033-121416033 C>T 0.0 2556 MELANOMA - - - - SORL1 ENST00000260197,p.T649I|uc001pxx.3,p.T649I|NM_003105,p.T649I retained_intron, protein_coding, processed_transcript uc001pxx.3 nonsynonymous SNV exon14 c.C1946T p.T649I DERGNECLLGHKTVFKRRTPHATCF DERGNECLLGHKIVFKRRTPHATCF 5.0 4.0 - - 2556_11:121416033-121416033 C>T_DERGNECLLGHKIVFKRRTPHATCF 0.0 20:25203614-25203614 G>C 1.0 4240 BREAST - - - - ENTPD6 uc002wuo.2,p.D148H|uc010zsz.1,p.D178H|uc002wul.2,p.D395H|uc002wuj.2,p.D396H|ENST00000360031,p.D395H|uc010ztc.1,p.D368H|ENST00000376652,p.D396H|NM_001247,p.D396H|uc002wum.2,p.D379H|uc002wuk.2,p.D395H|uc010ztb.1,p.D368H|uc010ztd.1,p.D144H|ENST00000354989,p.D379H|ENST00000433259,p.D362H|uc010zta.1,p.D396H|NM_001114089,p.D379H protein_coding, processed_transcript uc010ztd.1 nonsynonymous SNV exon8 c.G430C p.D144H YYYDLAAGVGLIDAEKGGSLVVGDF YYYDLAAGVGLIHAEKGGSLVVGDF 10.0 10.0 - - 4240_20:25203614-25203614 G>C_YYYDLAAGVGLIHAEKGGSLVVGDF 0.0 18:54424310-54424310 C>T 0.0 2591 MELANOMA - - - - WDR7 uc002lgk.1,p.P829L|ENST00000254442,p.P829L|NM_015285,p.P829L|ENST00000585824,p.P231L|uc002lgl.1,p.P829L|NM_052834,p.P829L|ENST00000357574,p.P829L retained_intron, protein_coding, nonsense_mediated_decay uc002lgl.1 nonsynonymous SNV exon15 c.C2486T p.P829L DEVCLDRLGMLKPHCTVSFGLLSRG DEVCLDRLGMLKLHCTVSFGLLSRG 4.0 9.0 - - 2591_18:54424310-54424310 C>T_DEVCLDRLGMLKLHCTVSFGLLSRG 0.0 19:21720498-21720498 G>T 1.0 4245 COLORECTAL - - - 2 ZNF429 NM_001001415,p.R548L|ENST00000358491,p.R548L|uc002nqd.1,p.R548L protein_coding, processed_transcript uc002nqd.1 nonsynonymous SNV exon4 c.G1643T p.R548L PYKCEECGKAFNRSSRLTQHKKIHT PYKCEECGKAFNLSSRLTQHKKIHT 7.0 4.0 - - 4245_19:21720498-21720498 G>T_PYKCEECGKAFNLSSRLTQHKKIHT 0.0 3:52939286-52939286 C>A 1.0 4160 COLORECTAL - - - - SFMBT1 uc010hmr.3,p.D727Y|ENST00000296295,p.D780Y retained_intron, protein_coding, processed_transcript uc010hmr.3 nonsynonymous SNV exon17 c.G2179T p.D727Y DDENKPPSPKEIDGQALLLLTLPTV DDENKPPSPKEIYGQALLLLTLPTV 7.0 1.0 - - 4160_3:52939286-52939286 C>A_DDENKPPSPKEIYGQALLLLTLPTV 0.0 20:8689378-8689378 C>T 1.0 4000 MELANOMA - - ID=COSM1029318,COSM1029319;OCCURENCE=1(endometrium) - PLCB1 uc002wnc.1,p.S309L|ENST00000378641,p.S410L|uc002wna.4,p.S410L|NM_015192,p.S410L|uc002wnb.4,p.S410L|uc010zrb.1,p.S309L|NM_182734,p.S410L|ENST00000338037,p.S410L|ENST00000378637,p.S410L protein_coding, processed_transcript, nonsense_mediated_decay uc010zrb.1 nonsynonymous SNV exon12 c.C926T p.S309L CAFKTSPFPILLSFENHVDSPKQQA CAFKTSPFPILLLFENHVDSPKQQA 5.0 9.0 - - 4000_20:8689378-8689378 C>T_CAFKTSPFPILLLFENHVDSPKQQA 0.0 1:185267310-185267310 T>A 1.0 4287 COLORECTAL - - - - IVNS1ABP uc001grj.3,p.R256W|ENST00000367498,p.R596W|uc009wyj.3,p.R378W|ENST00000392007,p.R378W|NM_006469,p.R596W|uc001gri.3,p.R256W|uc001grl.3,p.R596W retained_intron, protein_coding, processed_transcript uc009wyj.3 nonsynonymous SNV exon15 c.A1132T p.R378W NEWKMMGNMTSPRSNAGIATVGNTI NEWKMMGNMTSPWSNAGIATVGNTI 9.0 6.0 - - 4287_1:185267310-185267310 T>A_NEWKMMGNMTSPWSNAGIATVGNTI 0.0 12:112674805-112674805 C>A 1.0 4258 ENDOMETRIAL - - - - HECTD4 NM_001109662,p.Q1662H|ENST00000377560,p.Q1624H|ENST00000430131,p.Q1374H|ENST00000550722,p.Q1650H|uc021reb.1,p.Q1662H retained_intron, protein_coding, processed_transcript uc021reb.1 nonsynonymous SNV exon35 c.G4986T p.Q1662H NHLARATECCGNQAAGNDALQDVLS NHLARATECCGNHAAGNDALQDVLS 8.0 9.0 - - 4258_12:112674805-112674805 C>A_NHLARATECCGNHAAGNDALQDVLS 0.0 1:244574626-244574626 G>C 1.0 4037 NSCLC - - - - ADSS ENST00000366535,p.N427K|NM_001126,p.N427K|uc001iaj.3,p.N427K protein_coding, processed_transcript uc001iaj.3 nonsynonymous SNV exon12 c.C1281G p.N427K ARAFKELPVNAQNYVRFIEDELQIP ARAFKELPVNAQKYVRFIEDELQIP 9.0 10.0 - - 4037_1:244574626-244574626 G>C_ARAFKELPVNAQKYVRFIEDELQIP 0.0 1:227947151-227947151 C>T 1.0 3713 MELANOMA - - - - SNAP47 ENST00000366760,p.S121F|ENST00000366759,p.S363F|uc001hra.2,p.S121F|uc001hrf.2,p.S363F|uc001hre.3,p.S121F|ENST00000315781,p.S363F|NM_053052,p.S363F|uc001hrd.3,p.S363F protein_coding, processed_transcript uc001hrf.2 nonsynonymous SNV exon3 c.C1088T p.S363F EDALVLRSARTSSPAEKSCSVWHAA EDALVLRSARTSFPAEKSCSVWHAA 7.0 5.0 - - 3713_1:227947151-227947151 C>T_EDALVLRSARTSFPAEKSCSVWHAA 0.0 6:32411073-32411073 T>C 1.0 3713 MELANOMA - - - - HLA-DRA uc003obh.3,p.L147P|ENST00000374982,p.L122P|NM_019111,p.L147P|ENST00000395388,p.L147P|uc003obi.3,p.L122P protein_coding, processed_transcript uc003obi.3 nonsynonymous SNV exon3 c.T365C p.L122P DKFTPPVVNVTWLRNGKPVTTGVSE DKFTPPVVNVTWPRNGKPVTTGVSE 10.0 3.0 - - 3713_6:32411073-32411073 T>C_DKFTPPVVNVTWPRNGKPVTTGVSE 0.0 2:72362460-72362460 C>T 0.0 4316 COLORECTAL - - - - CYP26B1 ENST00000546307,p.S98N|uc010yrb.2,p.S98N|NM_001277742,p.S98N|ENST00000474509,p.S98N|ENST00000461519,p.S156N|ENST00000001146,p.S173N|uc010yra.1,p.S156N|NM_019885,p.S173N|uc002sih.2,p.S173N protein_coding uc010yrb.2 nonsynonymous SNV exon2 c.G293A p.S98N IQLVIQDTLRAWSSHPEAINVYQEA IQLVIQDTLRAWNSHPEAINVYQEA 4.0 9.0 - - 4316_2:72362460-72362460 C>T_IQLVIQDTLRAWNSHPEAINVYQEA 0.0 14:42360614-42360614 G>A 0.0 4095 COLORECTAL - - - - LRFN5 uc001wvm.3,p.R516H|ENST00000298119,p.R516H|NM_152447,p.R516H protein_coding, processed_transcript uc001wvm.3 nonsynonymous SNV exon4 c.G1547A p.R516H GCIQFTTEQDYVRCHFMQSQFLGGT GCIQFTTEQDYVHCHFMQSQFLGGT 4.0 9.0 - - 4095_14:42360614-42360614 G>A_GCIQFTTEQDYVHCHFMQSQFLGGT 0.0 6:75865979-75865979 T>C 0.0 2591 MELANOMA - - - - COL12A1 ENST00000483888,p.T1082A|uc021zbv.1,p.T1082A|ENST00000416123,p.T1082A|NM_004370,p.T1082A|ENST00000322507,p.T1082A|uc003phs.3,p.T1082A retained_intron, protein_coding, processed_transcript uc021zbv.1 nonsynonymous SNV exon14 c.A3244G p.T1082A KMGEGKLRQGSGTTASRFKSPRNLK KMGEGKLRQGSGATASRFKSPRNLK 2.0 7.0 - - 2591_6:75865979-75865979 T>C_KMGEGKLRQGSGATASRFKSPRNLK 0.0 4:114199081-114199081 C>G 0.0 4186 BREAST - - - - ANK2 NM_020977,p.S591C|ENST00000394537,p.S591C|uc003ibf.4,p.S591C|NM_001127493,p.S570C|ENST00000503271,p.S570C|uc003ibc.2,p.S567C|ENST00000504454,p.S606C|NM_001148,p.S591C|ENST00000264366,p.S591C|ENST00000357077,p.S591C|uc011cgb.1,p.S606C|uc003ibd.4,p.S570C|ENST00000506722,p.S570C|uc003ibe.4,p.S591C retained_intron, protein_coding, processed_transcript uc011cgb.1 nonsynonymous SNV exon17 c.C1817G p.S606C AKLLLQRRAAADSAGKNGLTPLHVA AKLLLQRRAAADCAGKNGLTPLHVA 2.0 7.0 - - 4186_4:114199081-114199081 C>G_AKLLLQRRAAADCAGKNGLTPLHVA 0.0 3:193366627-193366627 T>A 1.0 4196 COLORECTAL - - - - OPA1 NM_015560,p.V605D|NM_130835,p.V624D|ENST00000361510,p.V660D|NM_130831,p.V569D|ENST00000361715,p.V624D|NM_130834,p.V623D|uc003ftn.3,p.V569D|ENST00000392438,p.V605D|uc003fth.3,p.V624D|NM_130833,p.V606D|uc003ftg.3,p.V660D|NM_130836,p.V642D|uc003fti.3,p.V642D|uc003ftj.3,p.V623D|ENST00000361150,p.V606D|NM_130837,p.V660D|ENST00000361828,p.V623D|NM_130832,p.V587D|uc003ftk.3,p.V606D|uc003ftl.3,p.V587D|ENST00000361908,p.V642D|uc003ftm.3,p.V605D retained_intron, protein_coding, processed_transcript uc003ftn.3 nonsynonymous SNV exon18 c.T1706A p.V569D LFEKAKNEILDEVISLSQVTPKHWE LFEKAKNEILDEDISLSQVTPKHWE 10.0 3.0 - - 4196_3:193366627-193366627 T>A_LFEKAKNEILDEDISLSQVTPKHWE 0.0 4:70455287-70455288 CG>- 0.0 4326 BREAST - - - - UGT2A1,UGT2A2 NM_001301233,p.I427fs|NM_001105677,p.I471fs|NM_001252275,p.I462fs|ENST00000457664,p.I471fs|uc010iht.3,p.I418fs|ENST00000514019,p.I628fs|NM_001301239,p.I418fs|NM_006798,p.I462fs|uc010ihs.3,p.I471fs|ENST00000286604,p.I462fs|ENST00000503640,p.I462fs|uc010ihu.3,p.I462fs|uc021xox.1,p.I427fs|uc011caq.2,p.I628fs|uc003hem.4,p.I462fs|ENST00000512704,p.I418fs|NM_001252274,p.I628fs protein_coding, processed_transcript,retained_intron uc021xox.1 frameshift deletion exon5 c.1281_1282del p.I427fs QPVKPLDRAVFWIEFVMRHKGAKHLR QPVKPLDRAVFWIVCHAPQRSQAPSGCSP 1.0 3.0 - - 4326_4:70455287-70455288 CG>-_QPVKPLDRAVFWIVCHAPQRSQAPSGCSP 0.0 20:16360725-16360725 C>T 1.0 4266 COLORECTAL - - ID=COSM1410505,COSM1410504;OCCURENCE=1(large_intestine) - KIF16B uc010gch.2,p.R641H|NM_001199866,p.R641H|ENST00000354981,p.R641H|NM_024704,p.R641H|uc002wpe.1,p.R23H|uc002wpf.1,p.R23H|uc010gci.2,p.R641H|NM_001199865,p.R641H|ENST00000355755,p.R641H|uc010gcj.2,p.R652H|uc002wpg.2,p.R641H|ENST00000408042,p.R641H protein_coding uc010gcj.2 nonsynonymous SNV exon20 c.G1955A p.R652H ELERMQQEVETQRKETEIVQLQIRK ELERMQQEVETQHKETEIVQLQIRK 7.0 4.0 - - 4266_20:16360725-16360725 C>T_ELERMQQEVETQHKETEIVQLQIRK 0.0 17:4349457-4349457 G>A 0.0 4278 COLORECTAL - - - - SPNS3 ENST00000355530,p.V173M|ENST00000333476,p.V46M|uc002fxt.3,p.V173M|NM_182538,p.V173M|uc002fxu.3,p.V46M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002fxu.3 nonsynonymous SNV exon3 c.G136A p.V46M LGDLFVRDQRTRVLAVFYIFIPVGS LGDLFVRDQRTRMLAVFYIFIPVGS 6.0 10.0 - - 4278_17:4349457-4349457 G>A_LGDLFVRDQRTRMLAVFYIFIPVGS 0.0 9:34726204-34726204 G>A 0.0 3795 MELANOMA 0.19 rs521574 ID=COSM3952674,COSM3952675;OCCURENCE=1(lung),2(thyroid) - FAM205A uc011lor.2,p.P345S|ENST00000378788,p.P345S|NM_001141917,p.P345S protein_coding uc011lor.2 nonsynonymous SNV exon4 c.C1033T p.P345S NDQPVSFNLKNTPQVSLHRFETISL NDQPVSFNLKNTSQVSLHRFETISL 1.0 2.0 - - 3795_9:34726204-34726204 G>A_NDQPVSFNLKNTSQVSLHRFETISL 0.0 3:186504049-186504049 A>T 1.0 4246 COLORECTAL - - - 1 EIF4A2 NM_001967,p.N205I|ENST00000440191,p.N206I|ENST00000425053,p.N205I|uc003fqv.3,p.N110I|uc003fqs.3,p.N205I|ENST00000356531,p.N110I|uc003fqw.3,p.N110I|uc011bsb.2,p.N78I|ENST00000323963,p.N205I|uc003fqu.3,p.N206I retained_intron, protein_coding, nonsense_mediated_decay uc011bsb.2 nonsynonymous SNV exon2 c.A233T p.N78I FKDQIYEIFQKLNTSIQVVLLSATM FKDQIYEIFQKLITSIQVVLLSATM 10.0 4.0 - - 4246_3:186504049-186504049 A>T_FKDQIYEIFQKLITSIQVVLLSATM 0.0 9:136314989-136314989 G>A 0.0 4078 GASTRIC - - - - ADAMTS13 NM_139026,p.E952K|uc004cdp.4,p.E210K|uc004cdw.4,p.E983K|ENST00000371929,p.E983K|uc004cdu.1,p.E952K|ENST00000356589,p.E952K|uc004cdv.4,p.E983K|NM_139025,p.E983K|NM_139027,p.E983K|ENST00000355699,p.E983K|uc004cdt.1,p.E983K|uc004cdz.4,p.E653K|uc004cdx.4,p.E952K protein_coding, processed_transcript, nonsense_mediated_decay uc004cdz.4 nonsynonymous SNV exon16 c.G1957A p.E653K VRRILYCARAHGEDDGEEILLDTQC VRRILYCARAHGKDDGEEILLDTQC 3.0 10.0 - - 4078_9:136314989-136314989 G>A_VRRILYCARAHGKDDGEEILLDTQC 0.0 X:53966804-53966804 G>A 1.0 3879 MELANOMA - - - - PHF8 ENST00000338946,p.S831F|uc004dst.3,p.S932F|NM_001184897,p.S831F|NM_001184896,p.S968F|ENST00000338154,p.S932F|uc004dsw.3,p.S831F|uc004dsu.3,p.S968F|uc004dsv.3,p.S798F|NM_015107,p.S932F|ENST00000357988,p.S968F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004dsw.3 nonsynonymous SNV exon20 c.C2492T p.S831F PTVAATPQLVTSSSPLPPPEPKQEA PTVAATPQLVTSFSPLPPPEPKQEA 7.0 10.0 - - 3879_X:53966804-53966804 G>A_PTVAATPQLVTSFSPLPPPEPKQEA 0.0 3:101540697-101540697 A>C 0.0 4246 COLORECTAL - - - - NXPE3 ENST00000477909,p.T527P|uc010hpn.3,p.T527P|ENST00000491511,p.T527P|ENST00000273347,p.T527P|NM_001134456,p.T527P|NM_145037,p.T527P|ENST00000422132,p.T527P|uc003dvn.3,p.T527P protein_coding, processed_transcript uc010hpn.3 nonsynonymous SNV exon8 c.A1579C p.T527P GVGVYLVDAWEMTLAHYLPHKLHPD GVGVYLVDAWEMPLAHYLPHKLHPD 5.0 6.0 - - 4246_3:101540697-101540697 A>C_GVGVYLVDAWEMPLAHYLPHKLHPD 0.0 12:124827700-124827700 G>A 1.0 3466 MELANOMA - - - 1 NCOR2 uc010tba.2,p.P1604L|ENST00000429285,p.P1586L|ENST00000404121,p.P1157L|ENST00000356219,p.P1603L|uc010tbc.2,p.P1586L|NM_001077261,p.P1586L|NM_006312,p.P1596L|uc010tbb.2,p.P1596L|ENST00000397355,p.P1587L|uc021rgc.1,p.P1586L|ENST00000404621,p.P1586L|ENST00000405201,p.P1596L|NM_001206654,p.P1586L retained_intron, protein_coding uc021rgc.1 nonsynonymous SNV exon34 c.C4757T p.P1586L KLTSTPREIAKSPHSTVPEHHPHPI KLTSTPREIAKSLHSTVPEHHPHPI 9.0 9.0 - - 3466_12:124827700-124827700 G>A_KLTSTPREIAKSLHSTVPEHHPHPI 0.0 1:248569312-248569312 A>T 0.0 4326 BREAST - - - - OR2T1 NM_030904,p.Y6F|ENST00000366474,p.Y6F|uc010pzm.2,p.Y6F protein_coding uc010pzm.2 nonsynonymous SNV exon1 c.A17T p.Y6F MWQEYYFLNVFFPLLKVC MWQEYFFLNVFFPLLKVC 1.0 2.0 - - 4326_1:248569312-248569312 A>T_MWQEYFFLNVFFPLLKVC 0.0 X:152801800-152801800 C>T 0.0 4284 COLORECTAL - - ID=COSM1184076,COSM1184077,COSM1184075,COSM1184074;OCCURENCE=1(large_intestine) 1 ATP2B3 ENST00000263519,p.A32V|NM_021949,p.A32V|uc004fhs.1,p.A32V|ENST00000370181,p.A32V|ENST00000359149,p.A32V|ENST00000349466,p.A32V|NM_001001344,p.A32V|ENST00000370186,p.A32V|ENST00000393842,p.A32V|uc004fht.1,p.A32V protein_coding, processed_transcript uc004fht.1 nonsynonymous SNV exon1 c.C95T p.A32V DVPQAGGFGCTLAELRTLMELRGAE DVPQAGGFGCTLVELRTLMELRGAE 1.0 10.0 - - 4284_X:152801800-152801800 C>T_DVPQAGGFGCTLVELRTLMELRGAE 0.0 1:118558776-118558776 C>T 0.0 4301 MELANOMA - - - - SPAG17 uc001ehk.2,p.A1367T|NM_206996,p.A1367T|ENST00000336338,p.A1367T protein_coding, processed_transcript uc001ehk.2 nonsynonymous SNV exon29 c.G4099A p.A1367T KKGKSHKSQSSMAHKGEIHDPPPEA KKGKSHKSQSSMTHKGEIHDPPPEA 3.0 1.0 - - 4301_1:118558776-118558776 C>T_KKGKSHKSQSSMTHKGEIHDPPPEA 0.0 7:44151591-44151591 C>G 0.0 4160 COLORECTAL - - - - AEBP1 uc003tkc.5,p.T235R|NM_001129,p.T660R|uc003tkb.4,p.T660R|ENST00000450684,p.T235R|ENST00000223357,p.T660R protein_coding, processed_transcript, nonsense_mediated_decay uc003tkc.5 nonsynonymous SNV exon3 c.C704G p.T235R DGNPRVRSLVQDTRIHLVPSLNPDG DGNPRVRSLVQDRRIHLVPSLNPDG 9.0 2.0 - - 4160_7:44151591-44151591 C>G_DGNPRVRSLVQDRRIHLVPSLNPDG 0.0 18:2750075-2750075 A>G 1.0 4037 NSCLC - - - - SMCHD1 ENST00000320876,p.E1321G|NM_015295,p.E1321G|uc002klm.4,p.E1321G|ENST00000261598,p.E1321G|ENST00000577880,p.E792G retained_intron, protein_coding, nonsense_mediated_decay uc002klm.4 nonsynonymous SNV exon31 c.A3962G p.E1321G KLMPSNQQHKTDEKGRANLGVFSVF KLMPSNQQHKTDGKGRANLGVFSVF 7.0 7.0 - - 4037_18:2750075-2750075 A>G_KLMPSNQQHKTDGKGRANLGVFSVF 0.0 1:1560723-1560723 G>A 1.0 3466 MELANOMA - - - - MIB2 ENST00000357210,p.G318E|ENST00000355826,p.G361E|uc009vkh.3,p.G159E|NM_001170687,p.G361E|NM_001170689,p.G195E|uc001agg.3,p.G375E|ENST00000504599,p.G274E|NM_001170686,p.G375E|ENST00000378710,p.G318E|ENST00000505820,p.G375E|uc001agi.3,p.G375E|uc001agj.3,p.G159E|NM_080875,p.G375E|uc010nyq.2,p.G274E|ENST00000520777,p.G375E|ENST00000487053,p.G274E|NM_001170688,p.G310E|ENST00000378712,p.G195E|uc001agh.3,p.G361E|ENST00000360522,p.G318E|ENST00000378708,p.G260E|uc001agk.3,p.G310E|uc001agl.2,p.G274E|uc001agm.3,p.G195E|ENST00000518681,p.G310E|ENST00000506488,p.G260E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010nyq.2 nonsynonymous SNV exon6 c.G821A p.G274E RRVSADSQPFQHGDKVKCLLDTDVL RRVSADSQPFQHEDKVKCLLDTDVL 6.0 8.0 - - 3466_1:1560723-1560723 G>A_RRVSADSQPFQHEDKVKCLLDTDVL 0.0 17:7577568-7577568 C>T 1.0 4320 COLORECTAL - - ID=COSM3388191,COSM1649400,COSM179812,COSM179813,COSM11059,COSM179811;OCCURENCE=2(endometrium),5(soft_tissue),5(ovary),9(large_intestine),7(pancreas),1(skin),12(breast),7(oesophagus),1(bone),1(upper_aerodigestive_tract),1(stomach),4(central_nervous_system),8(haematopoietic_and_lymphoid_tissue),2(lung) 1 TP53 uc010cnh.2,p.C238Y|uc002gim.3,p.C238Y|uc010cni.2,p.C238Y retained_intron, protein_coding, processed_transcript uc010cni.2 nonsynonymous SNV exon7 c.G713A p.C238Y LGRNSFEVRVCACPGRDRRTEEENL LGRNSFEVRVCAYPGRDRRTEEENL 10.0 10.0 - - 4320_17:7577568-7577568 C>T_LGRNSFEVRVCAYPGRDRRTEEENL 0.0 X:55033431-55033431 G>C 0.0 4317 COLORECTAL - - - - APEX2 NM_014481,p.V374L|ENST00000374987,p.V374L|NM_001271748,p.V203L|uc004dtz.4,p.V374L|uc011mom.3,p.V203L protein_coding, processed_transcript uc011mom.3 nonsynonymous SNV exon5 c.G607C p.V203L QTRVQTCQNKAQVRSTRPQPSQVGS QTRVQTCQNKAQLRSTRPQPSQVGS 6.0 4.0 - - 4317_X:55033431-55033431 G>C_QTRVQTCQNKAQLRSTRPQPSQVGS 0.0 3:129159200-129159200 T>A 1.0 4317 COLORECTAL - - - - IFT122 uc003emm.3,p.D9E|uc003eml.3,p.D9E|uc011bkx.1,p.D9E|NM_052990,p.D9E|ENST00000507564,p.D9E|ENST00000348417,p.D9E|uc010htc.3,p.D9E|uc003emn.3,p.D9E|ENST00000349441,p.D9E|ENST00000504021,p.D9E|NM_052985,p.D9E|NM_018262,p.D9E|NM_001280541,p.D9E|NM_052989,p.D9E|uc003emo.3,p.D9E|ENST00000512220,p.D9E|ENST00000296266,p.D9E|ENST00000347300,p.D9E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bkx.1 nonsynonymous SNV exon1 c.T27A p.D9E MRAVLTWRDKAEHCINDIAFK MRAVLTWREKAEHCINDIAFK 9.0 5.0 - - 4317_3:129159200-129159200 T>A_MRAVLTWREKAEHCINDIAFK 0.0 1:53287176-53287176 C>T 1.0 3713 MELANOMA - - - - ZYG11B NM_024646,p.H704Y|uc010onj.2,p.H625Y|ENST00000294353,p.H704Y|uc001cuj.3,p.H704Y|uc009vzh.3,p.H126Y|ENST00000443756,p.H634Y protein_coding uc010onj.2 nonsynonymous SNV exon12 c.C1873T p.H625Y EGGLQHLYNIKDHEHTDPHVQQIAV EGGLQHLYNIKDYEHTDPHVQQIAV 6.0 1.0 - - 3713_1:53287176-53287176 C>T_EGGLQHLYNIKDYEHTDPHVQQIAV 0.0 1:159900545-159900545 C>T 1.0 4316 COLORECTAL - - - - IGSF9 uc001fuq.2,p.V568M|NM_001135050,p.V584M|uc001fur.2,p.V584M|ENST00000361509,p.V568M|NM_020789,p.V568M|ENST00000368094,p.V584M protein_coding, processed_transcript uc001fur.2 nonsynonymous SNV exon14 c.G1750A p.V584M PGLQPHTQYQFSVLAQNKLGSGPFS PGLQPHTQYQFSMLAQNKLGSGPFS 6.0 10.0 - - 4316_1:159900545-159900545 C>T_PGLQPHTQYQFSMLAQNKLGSGPFS 0.0 14:20784558-20784558 C>A 1.0 4258 ENDOMETRIAL - - - 1 CCNB1IP1 uc001vwz.4,p.S42I|uc001vwx.4,p.S42I|ENST00000398169,p.S42I|ENST00000556854,p.S42I|ENST00000398163,p.S42I|ENST00000353689,p.S42I|ENST00000437553,p.S42I|uc001vwy.4,p.S42I|NM_182849,p.S42I|NM_182852,p.S42I|uc021rnp.2,p.S42I|ENST00000358932,p.S42I|NM_021178,p.S42I|ENST00000557665,p.S42I|uc001vwv.4,p.S42I|ENST00000398160,p.S42I protein_coding, processed_transcript, nonsense_mediated_decay uc021rnp.2 nonsynonymous SNV exon6 c.G125T p.S42I HIFCDQHGSGEFSRSPAICPACNST HIFCDQHGSGEFIRSPAICPACNST 10.0 8.0 - - 4258_14:20784558-20784558 C>A_HIFCDQHGSGEFIRSPAICPACNST 0.0 17:34199413-34199413 G>A 0.0 3919 MELANOMA - - - - CCL5 ENST00000366113,p.R82W|ENST00000293272,p.R82W|NM_002985,p.R82W|uc002hkf.3,p.R82W protein_coding uc002hkf.3 nonsynonymous SNV exon3 c.C244T p.R82W RQVCANPEKKWVREYINSLEMS RQVCANPEKKWVWEYINSLEMS 7.0 10.0 - - 3919_17:34199413-34199413 G>A_RQVCANPEKKWVWEYINSLEMS 0.0 7:82585131-82585131 C>T 0.0 2369 MELANOMA - - - - PCLO NM_033026,p.R1713K|ENST00000333891,p.R1713K|NM_014510,p.R1713K|uc003uhv.2,p.R1713K|uc003uhx.2,p.R1713K|ENST00000423517,p.R1713K protein_coding, processed_transcript, nonsense_mediated_decay uc003uhx.2 nonsynonymous SNV exon5 c.G5138A p.R1713K MESLTDSPEDRSRGEGSSSLHASSF MESLTDSPEDRSKGEGSSSLHASSF 10.0 5.0 - - 2369_7:82585131-82585131 C>T_MESLTDSPEDRSKGEGSSSLHASSF 0.0 7:100087104-100087104 A>C 0.0 4245 COLORECTAL - - - - NYAP1 ENST00000423930,p.K587T|NM_173564,p.K587T|uc003uvd.2,p.K587T|ENST00000454988,p.K530T|ENST00000300179,p.K587T|uc003uve.2,p.K369T protein_coding, processed_transcript uc003uve.2 nonsynonymous SNV exon1 c.A1106C p.K369T KGCGVGAPSPMVKIQLQEQGTDGGA KGCGVGAPSPMVTIQLQEQGTDGGA 4.0 3.0 - - 4245_7:100087104-100087104 A>C_KGCGVGAPSPMVTIQLQEQGTDGGA 0.0 2:240003853-240003853 G>A 1.0 3903 MELANOMA - - - - HDAC4 uc010fyy.3,p.S818F|uc002vyk.4,p.S861F|NM_006037,p.S861F|ENST00000345617,p.S861F|ENST00000543185,p.S445F retained_intron, protein_coding, processed_transcript uc010fyy.3 nonsynonymous SNV exon18 c.C2453T p.S818F QAFYSDPSVLYMSLHRYDDGNFFPG QAFYSDPSVLYMFLHRYDDGNFFPG 7.0 9.0 - - 3903_2:240003853-240003853 G>A_QAFYSDPSVLYMFLHRYDDGNFFPG 0.0 X:69263813-69263813 C>T 0.0 4110 BILE DUCT 0 - ID=COSM1124347;OCCURENCE=3(endometrium) - AWAT2 NM_001002254,p.R77H|uc004dxt.1,p.R77H|ENST00000276101,p.R77H retained_intron, protein_coding, nonsense_mediated_decay uc004dxt.1 nonsynonymous SNV exon3 c.G230A p.R77H RGGRRFTCVRHWRLWKHYSDYFPLK RGGRRFTCVRHWHLWKHYSDYFPLK 1.0 10.0 - - 4110_X:69263813-69263813 C>T_RGGRRFTCVRHWHLWKHYSDYFPLK 0.0 5:140307549-140307549 G>C 0.0 4081 COLORECTAL - - - - PCDHAC1 ENST00000253807,p.V358L|uc003lig.1,p.V358L|NM_018898,p.V358L|ENST00000409700,p.V358L|uc003lih.2,p.V358L|NM_031882,p.V358L protein_coding uc003lih.2 nonsynonymous SNV exon1 c.G1072C p.V358L SNPVPEDAAPGTVIALFSVKDEDLD SNPVPEDAAPGTLIALFSVKDEDLD 2.0 4.0 - - 4081_5:140307549-140307549 G>C_SNPVPEDAAPGTLIALFSVKDEDLD 0.0 1:228403297-228403297 C>T 0.0 4278 COLORECTAL - - - - OBSCN NM_001271223,p.A621V|ENST00000284548,p.A621V|ENST00000570156,p.A621V|NM_052843,p.A621V|uc001hsn.4,p.A621V|uc001hsq.2,p.A621V|ENST00000422127,p.A621V|uc009xez.2,p.A621V|NM_001098623,p.A621V retained_intron, protein_coding, processed_transcript uc009xez.2 nonsynonymous SNV exon6 c.C1862T p.A621V LAPKLAVRTPLKAVQAVEGGEVTFS LAPKLAVRTPLKVVQAVEGGEVTFS 8.0 10.0 - - 4278_1:228403297-228403297 C>T_LAPKLAVRTPLKVVQAVEGGEVTFS 0.0 12:58001221-58001221 C>T 1.0 3879 MELANOMA - - - - DTX3 NM_001286246,p.A192V|ENST00000548198,p.A192V|NM_178502,p.A192V|uc001sov.1,p.A185V|ENST00000551632,p.A195V|ENST00000548804,p.A192V|uc001soy.1,p.A185V|uc001sow.1,p.A192V|uc001sox.1,p.A185V|NM_001286245,p.A195V|ENST00000337737,p.A192V protein_coding uc001soy.1 nonsynonymous SNV exon3 c.C554T p.A185V CRHSFCEGCITRALQVKKACPMCGR CRHSFCEGCITRVLQVKKACPMCGR 6.0 4.0 - - 3879_12:58001221-58001221 C>T_CRHSFCEGCITRVLQVKKACPMCGR 0.0 17:16981361-16981361 G>A 1.0 4155 MELANOMA - - - - MPRIP NM_015134,p.G80S|ENST00000577514,p.G80S|ENST00000395804,p.G80S|uc002gqu.2,p.G80S|ENST00000444976,p.G80S|ENST00000341712,p.G80S|ENST00000395811,p.G80S|uc002gqv.2,p.G80S|NM_201274,p.G80S retained_intron, protein_coding, processed_transcript uc002gqv.2 nonsynonymous SNV exon3 c.G238A p.G80S KWQRRFFILYEHGLLRYALDEMPTT KWQRRFFILYEHSLLRYALDEMPTT 10.0 8.0 - - 4155_17:16981361-16981361 G>A_KWQRRFFILYEHSLLRYALDEMPTT 0.0 2:95691589-95691589 G>T 1.0 4129 NSCLC - - - - MAL ENST00000309988,p.V18F|ENST00000354078,p.V18F|ENST00000349807,p.V18F|ENST00000353004,p.V18F|NM_022438,p.V18F|NM_022440,p.V18F|NM_022439,p.V18F|uc002stz.2,p.V18F|uc002sty.2,p.V18F|uc002sua.2,p.V18F|uc002stx.2,p.V18F|NM_002371,p.V18F protein_coding, processed_transcript uc002sua.2 nonsynonymous SNV exon1 c.G52T p.V18F ATGGSTLPSGFSVFTTLPDLLFIFE ATGGSTLPSGFSFFTTLPDLLFIFE 9.0 9.0 - - 4129_2:95691589-95691589 G>T_ATGGSTLPSGFSFFTTLPDLLFIFE 0.0 6:46826789-46826789 C>T 0.0 2359 MELANOMA - - - - GPR116 ENST00000456426,p.E809K|uc003oyo.3,p.E951K|NM_015234,p.E951K|ENST00000545669,p.E380K|uc003oyp.3,p.E809K|ENST00000362015,p.E951K|uc011dwj.1,p.E506K|ENST00000265417,p.E951K|uc011dwk.1,p.E380K|uc010jzi.1,p.E623K|uc003oyq.3,p.E951K|ENST00000283296,p.E951K|NM_001098518,p.E951K protein_coding, processed_transcript uc011dwk.1 nonsynonymous SNV exon7 c.G1138A p.E380K SMTFKNNSPSGGETKCVFWNFRLAN SMTFKNNSPSGGKTKCVFWNFRLAN 1.0 8.0 - - 2359_6:46826789-46826789 C>T_SMTFKNNSPSGGKTKCVFWNFRLAN 0.0 11:64514789-64514789 C>T 0.0 4213 COLORECTAL - - - - PYGM uc001oax.4,p.R740Q|NM_005609,p.R740Q|NM_001164716,p.R652Q|ENST00000164139,p.R740Q|uc001oay.4,p.R652Q|ENST00000377432,p.R652Q retained_intron, protein_coding, processed_transcript uc001oay.4 nonsynonymous SNV exon16 c.G1955A p.R652Q NAQEYYDRIPELRQVIEQLSSGFFS NAQEYYDRIPELQQVIEQLSSGFFS 6.0 9.0 - - 4213_11:64514789-64514789 C>T_NAQEYYDRIPELQQVIEQLSSGFFS 0.0 1:10460562-10460562 A>T 1.0 4287 COLORECTAL - - - - PGD ENST00000538557,p.K53M|NM_002631,p.K66M|ENST00000270776,p.K66M|uc001arc.3,p.K66M|ENST00000465632,p.K53M|ENST00000491493,p.K53M|uc010oak.2,p.K66M|ENST00000541529,p.K66M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010oak.2 nonsynonymous SNV exon3 c.A197T p.K66M GAQSLKEMVSKLKKPRRIILLVKAG GAQSLKEMVSKLMKPRRIILLVKAG 9.0 2.0 - - 4287_1:10460562-10460562 A>T_GAQSLKEMVSKLMKPRRIILLVKAG 0.0 X:49143014-49143014 C>A 0.0 4287 COLORECTAL - - - - PPP1R3F uc004dni.3,p.A275E|uc004dnj.2,p.A275E|ENST00000438316,p.A292E|uc004dnh.2,p.A621E|ENST00000055335,p.A621E|ENST00000495799,p.A275E|NM_001184745,p.A275E|NM_033215,p.A621E|ENST00000376188,p.A275E|uc011mnd.2,p.A292E|ENST00000466508,p.A275E protein_coding uc011mnd.2 nonsynonymous SNV exon5 c.C875A p.A292E VVATMGDVWLPWAEGSGCDGPVVLG VVATMGDVWLPWEEGSGCDGPVVLG 4.0 7.0 - - 4287_X:49143014-49143014 C>A_VVATMGDVWLPWEEGSGCDGPVVLG 0.0 4:125591242-125591242 A>C 1.0 4320 COLORECTAL - - - - ANKRD50 ENST00000504087,p.L1064V|NM_020337,p.L1064V|ENST00000515641,p.L885V|uc011cgo.2,p.L885V|uc010inw.3,p.L1064V|NM_001167882,p.L885V protein_coding uc011cgo.2 nonsynonymous SNV exon3 c.T2653G p.L885V AAQEGHIDVVQVLLEHGADPNHADQ AAQEGHIDVVQVVLEHGADPNHADQ 6.0 6.0 - - 4320_4:125591242-125591242 A>C_AAQEGHIDVVQVVLEHGADPNHADQ 0.0 1:182442751-182442751 A>C 0.0 4246 COLORECTAL - - - - RGSL1 ENST00000443996,p.T204P|uc009wxw.3,p.T169P|NM_001137669,p.T169P|uc021pfx.1,p.T204P|ENST00000294854,p.T169P|ENST00000542961,p.T204P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021pfx.1 nonsynonymous SNV exon7 c.A610C p.T204P LLNLSIWHPNQSTTRREILSHMQKV LLNLSIWHPNQSPTRREILSHMQKV 1.0 4.0 - - 4246_1:182442751-182442751 A>C_LLNLSIWHPNQSPTRREILSHMQKV 0.0 19:36590514-36590514 A>G 1.0 4320 COLORECTAL - - - - WDR62 ENST00000270301,p.S912G|uc002odd.2,p.S912G|NM_001083961,p.S912G|ENST00000401500,p.S912G|uc002odc.2,p.S912G|NM_173636,p.S912G protein_coding, processed_transcript, nonsense_mediated_decay uc002odd.2 nonsynonymous SNV exon22 c.A2734G p.S912G DSLEPQSLASLLSESESPQEAGRGH DSLEPQSLASLLGESESPQEAGRGH 7.0 1.0 - - 4320_19:36590514-36590514 A>G_DSLEPQSLASLLGESESPQEAGRGH 0.0 15:22928198-22928198 A>G 0.0 4238 COLORECTAL - - - - CYFIP1 NM_001287810,p.I93V|ENST00000560848,p.I93V|ENST00000561274,p.I93V|ENST00000561185,p.I93V|uc001yut.3,p.I93V|uc001yus.3,p.I93V|ENST00000313077,p.I93V|NM_014608,p.I93V|uc010aya.1,p.I121V retained_intron, protein_coding, nonsense_mediated_decay uc010aya.1 nonsynonymous SNV exon3 c.A361G p.I121V VMLYTWRSCSRAIPQVKCNEQPNRV VMLYTWRSCSRAVPQVKCNEQPNRV 8.0 5.0 CD8 - 4238_15:22928198-22928198 A>G_VMLYTWRSCSRAVPQVKCNEQPNRV 1.0 17:56345258-56345258 G>A 0.0 4246 COLORECTAL - - - - LPO uc010wns.2,p.R622Q|uc010dcq.3,p.R352Q|NM_001160102,p.R598Q|NM_006151,p.R681Q|uc002ivt.3,p.R681Q|ENST00000582328,p.R598Q|uc010dcp.3,p.R598Q|uc010dcr.3,p.R244Q|ENST00000543544,p.R622Q|ENST00000421678,p.R598Q|ENST00000262290,p.R681Q retained_intron, protein_coding, nonsense_mediated_decay uc010wns.2 nonsynonymous SNV exon12 c.G1865A p.R622Q LVCDNTRITKVPRDPFWANSYPYDF LVCDNTRITKVPQDPFWANSYPYDF 3.0 10.0 - - 4246_17:56345258-56345258 G>A_LVCDNTRITKVPQDPFWANSYPYDF 0.0 3:97851849-97851849 C>T 0.0 3795 MELANOMA - - ID=COSM137858;OCCURENCE=1(skin) - OR5H1 NM_001005338,p.S103L|ENST00000354565,p.S103L|uc011bgt.2,p.S103L protein_coding uc011bgt.2 nonsynonymous SNV exon1 c.C308T p.S103L MISLSECKIQFFSFAISVTTECFLL MISLSECKIQFFLFAISVTTECFLL 1.0 8.0 - - 3795_3:97851849-97851849 C>T_MISLSECKIQFFLFAISVTTECFLL 0.0 7:82544065-82544065 C>A 0.0 4046 OVARIAN - - - - PCLO ENST00000437081,p.G1133C|ENST00000423517,p.G4413C|uc003uhx.2,p.G4413C|NM_014510,p.G4413C|ENST00000333891,p.G4413C|uc003uhv.2,p.G4413C|NM_033026,p.G4413C|uc010lec.3,p.G1378C protein_coding, processed_transcript, nonsense_mediated_decay uc010lec.3 nonsynonymous SNV exon2 c.G4132T p.G1378C VQQHMREESRTRGYDRDIAFIMDDF VQQHMREESRTRCYDRDIAFIMDDF 3.0 6.0 - - 4046_7:82544065-82544065 C>A_VQQHMREESRTRCYDRDIAFIMDDF 0.0 8:29102955-29102955 C>T 1.0 4301 MELANOMA - - - - KIF13B ENST00000523968,p.D53N retained_intron, protein_coding, nonsense_mediated_decay ENST00000523968 nonsynonymous SNV exon3 c.G157A p.D53N LSWTSGPEEVKRD LSWTSGPEEVKRN 7.0 4.0 - - 4301_8:29102955-29102955 C>T_LSWTSGPEEVKRN 0.0 22:42003322-42003322 C>A 0.0 4317 COLORECTAL - - - - DESI1 NM_015704,p.V42F|ENST00000263256,p.V42F|uc003bam.2,p.V42F retained_intron, protein_coding, processed_transcript uc003bam.2 nonsynonymous SNV exon3 c.G124T p.V42F GKQLEGIWHTSIVVHKDEFFFGSGG GKQLEGIWHTSIFVHKDEFFFGSGG 8.0 3.0 - - 4317_22:42003322-42003322 C>A_GKQLEGIWHTSIFVHKDEFFFGSGG 0.0 1:70504172-70504172 C>T 1.0 3713 MELANOMA - - - - LRRC7 ENST00000310961,p.P856S|uc001deq.3,p.P92S|uc009wbg.3,p.P135S|NM_020794,p.P851S|ENST00000415775,p.P135S|uc001dep.3,p.P851S|ENST00000035383,p.P851S protein_coding, processed_transcript, nonsense_mediated_decay uc009wbg.3 nonsynonymous SNV exon15 c.C403T p.P135S SNPWQNWTRTPSPFEDRTAFPSKLE SNPWQNWTRTPSSFEDRTAFPSKLE 1.0 4.0 - - 3713_1:70504172-70504172 C>T_SNPWQNWTRTPSSFEDRTAFPSKLE 0.0 16:80642126-80642126 C>T 0.0 4240 BREAST - - - - CDYL2 uc002ffs.3,p.E409K|NM_152342,p.E409K|ENST00000566173,p.E410K|ENST00000562812,p.E410K|ENST00000299564,p.E409K|ENST00000563890,p.E410K protein_coding, processed_transcript uc002ffs.3 nonsynonymous SNV exon6 c.G1225A p.E409K TFPQILGVALANEMLFCGRKLTAQE TFPQILGVALANKMLFCGRKLTAQE 6.0 8.0 - - 4240_16:80642126-80642126 C>T_TFPQILGVALANKMLFCGRKLTAQE 0.0 X:154294035-154294035 C>A 0.0 4234 NSCLC - - - 1 MTCP1 ENST00000369476,p.Q45H|ENST00000362018,p.Q45H|uc004fmz.2,p.Q45H|NM_001018025,p.Q45H protein_coding, processed_transcript, nonsense_mediated_decay uc004fmz.2 nonsynonymous SNV exon3 c.G135T p.Q45H VEEETSFLRARVQQIQVPLGDAARP VEEETSFLRARVHQIQVPLGDAARP 7.0 3.0 - - 4234_X:154294035-154294035 C>A_VEEETSFLRARVHQIQVPLGDAARP 0.0 20:57036021-57036021 C>T 1.0 4160 COLORECTAL - - ID=COSM1245181;OCCURENCE=1(oesophagus),1(breast) - APCDD1L ENST00000371149,p.R444H|NM_153360,p.R444H|ENST00000439429,p.R455H|uc010zzp.1,p.R455H|uc002xze.1,p.R444H protein_coding, processed_transcript uc010zzp.1 nonsynonymous SNV exon5 c.G1364A p.R455H PTDGSSPDTPEKRPTSYQAPLVLCH PTDGSSPDTPEKHPTSYQAPLVLCH 5.0 3.0 - - 4160_20:57036021-57036021 C>T_PTDGSSPDTPEKHPTSYQAPLVLCH 0.0 14:60938456-60938456 C>T 1.0 3879 MELANOMA - - - - C14orf39 ENST00000321731,p.E109K|ENST00000555476,p.E80K|uc001xez.4,p.E109K|NM_174978,p.E109K protein_coding, nonsense_mediated_decay uc001xez.4 nonsynonymous SNV exon6 c.G325A p.E109K FTVYQGTVEKDKEMYHDYICQYKEV FTVYQGTVEKDKKMYHDYICQYKEV 4.0 8.0 - - 3879_14:60938456-60938456 C>T_FTVYQGTVEKDKKMYHDYICQYKEV 0.0 17:48753296-48753296 C>T 1.0 4284 COLORECTAL - - - - ABCC3 ENST00000505699,p.T971M|ENST00000285238,p.T971M|uc002isl.3,p.T971M|NM_003786,p.T971M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002isl.3 nonsynonymous SNV exon22 c.C2912T p.T971M FWDYAKAVGLCTTLAICLLYVGQSA FWDYAKAVGLCTMLAICLLYVGQSA 9.0 5.0 - - 4284_17:48753296-48753296 C>T_FWDYAKAVGLCTMLAICLLYVGQSA 0.0 16:56855500-56855500 G>C 1.0 4134 NSCLC - - - - NUP93 ENST00000563858,p.D10H retained_intron, protein_coding, processed_transcript, TEC ENST00000563858 nonsynonymous SNV exon3 c.G28C p.D10H MDTEGFELDDKSISDMWTMVKQ MDTEGFELDHKSISDMWTMVKQ 9.0 3.0 - - 4134_16:56855500-56855500 G>C_MDTEGFELDHKSISDMWTMVKQ 0.0 21:42813705-42813705 C>T 0.0 4240 BREAST - - ID=COSM188229;OCCURENCE=1(large_intestine) - MX1 uc002yzh.3,p.R265W|ENST00000398598,p.R265W|ENST00000398600,p.R265W|ENST00000288383,p.R242W|uc010goq.3,p.R265W|NM_001282920,p.R265W|NM_001144925,p.R265W|NM_002462,p.R265W|uc002yzi.3,p.R265W|NM_001178046,p.R265W|ENST00000455164,p.R265W retained_intron, protein_coding, processed_transcript uc010goq.3 nonsynonymous SNV exon8 c.C793T p.R265W DKGTEDKVVDVVRNLVFHLKKGYMI DKGTEDKVVDVVWNLVFHLKKGYMI 6.0 7.0 - - 4240_21:42813705-42813705 C>T_DKGTEDKVVDVVWNLVFHLKKGYMI 0.0 2:1161295-1161295 C>T 1.0 4284 COLORECTAL 0.01 rs61744692 ID=COSM441027;OCCURENCE=1(breast) - SNTG2 uc002qwq.3,p.A158V|NM_018968,p.A158V|ENST00000308624,p.A158V protein_coding, processed_transcript, nonsense_mediated_decay uc002qwq.3 nonsynonymous SNV exon7 c.C473T p.A158V DEVTITVEYLREAPAFLKLPLGSPG DEVTITVEYLREVPAFLKLPLGSPG 2.0 10.0 - - 4284_2:1161295-1161295 C>T_DEVTITVEYLREVPAFLKLPLGSPG 0.0 6:42974688-42974688 A>C 1.0 4320 COLORECTAL - - - - PPP2R5D ENST00000472118,p.K113T|NM_006245,p.K121T|uc003oth.4,p.K121T|ENST00000485511,p.K121T retained_intron, protein_coding, nonsense_mediated_decay uc003oth.4 nonsynonymous SNV exon4 c.A362C p.K121T SPTQEREELFIQKLRQCCVLFDFVS SPTQEREELFIQTLRQCCVLFDFVS 9.0 3.0 - - 4320_6:42974688-42974688 A>C_SPTQEREELFIQTLRQCCVLFDFVS 0.0 X:147743434-147743434 C>G 0.0 4160 COLORECTAL - - - - AFF2 uc004fcp.3,p.N62K|NM_002025,p.N62K|uc011mxb.2,p.N62K|ENST00000370460,p.N62K|NM_001169124,p.N62K protein_coding uc011mxb.2 nonsynonymous SNV exon3 c.C186G p.N62K LFGEPYKVAEYTNKGDALANRVQNT LFGEPYKVAEYTKKGDALANRVQNT 1.0 10.0 - - 4160_X:147743434-147743434 C>G_LFGEPYKVAEYTKKGDALANRVQNT 0.0 1:77984389-77984389 G>A 1.0 3713 MELANOMA - - - - AK5 NM_012093,p.E404K|ENST00000354567,p.E430K|ENST00000344720,p.E404K|NM_174858,p.E430K|uc001dho.3,p.E404K|uc001dhn.3,p.E430K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001dho.3 nonsynonymous SNV exon11 c.G1210A p.E404K ESERSKLIRDIMERGDLVPSGIVLE ESERSKLIRDIMKRGDLVPSGIVLE 1.0 4.0 - - 3713_1:77984389-77984389 G>A_ESERSKLIRDIMKRGDLVPSGIVLE 0.0 4:39206793-39206793 A>T 0.0 4335 COLORECTAL - - - - WDR19 uc003gtv.3,p.K208M|NM_025132,p.K208M|ENST00000288634,p.K48M|uc003gtu.1,p.K208M|ENST00000399820,p.K208M|uc010ifl.1,p.K25M|ENST00000506503,p.K208M|uc011byi.2,p.K48M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011byi.2 nonsynonymous SNV exon7 c.A143T p.K48M SAAESMISVVLGKKTLFFLNLNEPD SAAESMISVVLGMKTLFFLNLNEPD 6.0 1.0 - - 4335_4:39206793-39206793 A>T_SAAESMISVVLGMKTLFFLNLNEPD 0.0 1:100889855-100889855 C>G 0.0 3775 CERVICAL - - - - CDC14A uc009wee.3,p.F129L|ENST00000544534,p.F129L|ENST00000361544,p.F129L|uc001dtf.2,p.F129L|NM_033312,p.F129L|uc001dtg.4,p.F129L|ENST00000455467,p.F130L|NM_033313,p.F129L|ENST00000542213,p.F71L|uc001dte.4,p.F129L|ENST00000336454,p.F129L|ENST00000370124,p.F129L|uc010oui.1,p.F71L|NM_003672,p.F129L|ENST00000370125,p.F129L protein_coding, processed_transcript uc010oui.1 nonsynonymous SNV exon5 c.C213G p.F71L ALLSGSNPPYLPFRDASFGNCTYNL ALLSGSNPPYLPLRDASFGNCTYNL 6.0 8.0 - - 3775_1:100889855-100889855 C>G_ALLSGSNPPYLPLRDASFGNCTYNL 0.0 13:23913108-23913108 G>C 0.0 4335 COLORECTAL - - - - SACS NM_001278055,p.P1489R|ENST00000382298,p.P1636R|uc001uoo.3,p.P1489R|NM_014363,p.P1636R|ENST00000382292,p.P1636R|uc001uon.3,p.P1636R|ENST00000402364,p.P886R protein_coding, processed_transcript uc001uoo.3 nonsynonymous SNV exon8 c.C4466G p.P1489R VFGCQLPLTVEAPYSYNGTLFRLSF VFGCQLPLTVEARYSYNGTLFRLSF 5.0 7.0 - - 4335_13:23913108-23913108 G>C_VFGCQLPLTVEARYSYNGTLFRLSF 0.0 4:41263893-41263893 G>A 0.0 4317 COLORECTAL - - - - UCHL1 uc003gvp.3,p.A57T|uc003gvo.3,p.A138T|ENST00000505232,p.A138T|ENST00000284440,p.A138T|ENST00000503431,p.A138T|ENST00000512788,p.A138T|NM_004181,p.A138T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003gvp.3 nonsynonymous SNV exon5 c.G169A p.A57T PEDRAKCFEKNEAIQAAHDAVAQEG PEDRAKCFEKNETIQAAHDAVAQEG 3.0 7.0 - - 4317_4:41263893-41263893 G>A_PEDRAKCFEKNETIQAAHDAVAQEG 0.0 15:86182612-86182612 G>A 1.0 4000 MELANOMA - - ID=COSM1708503,COSM231735;OCCURENCE=2(skin) - AKAP13 ENST00000361243,p.R1390Q|uc002blv.2,p.R1390Q|NM_006738,p.R1390Q|NM_007200,p.R1390Q|uc002blt.2,p.R1390Q|uc002blu.2,p.R1390Q|ENST00000559362,p.R1390Q|uc010bne.1,p.R43Q|ENST00000394518,p.R1390Q retained_intron, protein_coding, processed_transcript uc010bne.1 nonsynonymous SNV exon3 c.G128A p.R43Q KMKQGPMTQAINRENWCTIEPCPDA KMKQGPMTQAINQENWCTIEPCPDA 10.0 7.0 - - 4000_15:86182612-86182612 G>A_KMKQGPMTQAINQENWCTIEPCPDA 0.0 7:116339857-116339857 A>C 1.0 4335 COLORECTAL - - - 1 MET uc011knh.1,p.E240A|uc011kng.1,p.E240A|uc011knb.1,p.E240A|uc003vij.3,p.E240A|NM_000245,p.E240A|NM_001127500,p.E240A|uc011knf.2,p.E240A|uc010lkh.3,p.E240A|ENST00000397752,p.E240A|uc010lkg.3,p.E240A|uc011kna.1,p.E240A|uc011kmz.1,p.E240A|uc022akk.1,p.E240A|uc011knc.1,p.E240A|uc003vii.1,p.E259A|uc011kni.2,p.E240A|uc011knd.2,p.E240A|uc011kne.2,p.E240A|ENST00000318493,p.E240A|ENST00000436117,p.E240A protein_coding, processed_transcript uc022akk.1 nonsynonymous SNV exon2 c.A719C p.E240A FLTDQSYIDVLPEFRDSYPIKYVHA FLTDQSYIDVLPAFRDSYPIKYVHA 9.0 6.0 - - 4335_7:116339857-116339857 A>C_FLTDQSYIDVLPAFRDSYPIKYVHA 0.0 1:46489651-46489651 A>C 1.0 4252 COLORECTAL - - - - MAST2 uc001cov.3,p.E593D|uc001cow.3,p.E593D|ENST00000361297,p.E593D|NM_015112,p.E593D|ENST00000372009,p.E523D|ENST00000372008,p.E478D|uc001coy.1,p.E267D|uc001coz.1,p.E478D protein_coding, processed_transcript uc001coz.1 nonsynonymous SNV exon13 c.A1434C p.E478D TKRHLCMVMEYVEGGDCATLLKNIG TKRHLCMVMEYVDGGDCATLLKNIG 8.0 8.0 - - 4252_1:46489651-46489651 A>C_TKRHLCMVMEYVDGGDCATLLKNIG 0.0 15:101862765-101862765 C>A 0.0 4335 COLORECTAL - - - - PCSK6 uc010bpd.3,p.D605Y|ENST00000348070,p.D808Y|ENST00000398185,p.D637Y|ENST00000358417,p.D795Y retained_intron, protein_coding, processed_transcript uc010bpd.3 nonsynonymous SNV exon15 c.G1813T p.D605Y CLKCHPSCKKCVDEPEKCTVCKEGF CLKCHPSCKKCVYEPEKCTVCKEGF 6.0 8.0 - - 4335_15:101862765-101862765 C>A_CLKCHPSCKKCVYEPEKCTVCKEGF 0.0 2:96690199-96690199 C>T 0.0 4149 OVARIAN - - - - GPAT2 uc002svg.3,p.V428I|uc002svd.3,p.V368I|ENST00000434632,p.V549I|ENST00000359548,p.V549I|uc002svh.3,p.V549I|NM_207328,p.V549I|uc010yuh.2,p.V478I|uc002sve.3,p.V351I|uc002svf.3,p.V549I|ENST00000377137,p.V549I|ENST00000453542,p.V478I retained_intron, protein_coding, processed_transcript uc010yuh.2 nonsynonymous SNV exon14 c.G1432A p.V478I THLAQLSAELLPVFLSEAVGACAVR THLAQLSAELLPIFLSEAVGACAVR 5.0 3.0 - - 4149_2:96690199-96690199 C>T_THLAQLSAELLPIFLSEAVGACAVR 0.0 5:74807152-74807152 ->G 0.0 4335 COLORECTAL - - - - COL4A3BP uc003kdt.3,p.T89fs|NM_001130105,p.T89fs|ENST00000380494,p.T89fs protein_coding, processed_transcript uc003kdt.3 frameshift insertion exon2 c.264dupC p.T89fs GGRTSSLLLLPPTPERALFASPSPD GGRTSSLLLLPPHTGAGTLRFAIPRPFTPRTGRLLRRS 7.0 8.0 - - 4335_5:74807152-74807152 ->G_GGRTSSLLLLPPHTGAGTLRFAIPRPFTPRTGRLLRRS 0.0 11:6129367-6129367 T>C 0.0 4186 BREAST - - - - OR56B4 NM_001005181,p.I120T|uc010qzx.2,p.I120T|ENST00000316529,p.I120T protein_coding uc010qzx.2 nonsynonymous SNV exon1 c.T359C p.I120T YAIHCFFCIESGIFLCMAVDRYIAI YAIHCFFCIESGTFLCMAVDRYIAI 1.0 7.0 - - 4186_11:6129367-6129367 T>C_YAIHCFFCIESGTFLCMAVDRYIAI 0.0 7:18630033-18630033 G>C 0.0 4235 COLORECTAL - - - - HDAC9 uc003sue.3,p.R110S|ENST00000406451,p.R110S|uc011jya.2,p.R152S|NM_001204146,p.R113S|ENST00000432645,p.R110S|NM_001204148,p.R82S|uc003sud.2,p.R110S|ENST00000428307,p.R110S|NM_178423,p.R110S|uc011jyf.2,p.R79S|ENST00000441986,p.R79S|NM_001204145,p.R110S|ENST00000406072,p.R141S|uc011jyc.2,p.R113S|uc011jye.2,p.R82S|uc003suh.3,p.R110S|ENST00000413509,p.R113S|uc010kud.2,p.R113S|NM_178425,p.R113S|ENST00000417496,p.R152S|uc003sua.1,p.R132S|uc011jyd.2,p.R110S|ENST00000413380,p.R113S|ENST00000405010,p.R110S|NM_001204147,p.R79S|uc003sui.3,p.R113S|uc011jyb.2,p.R110S|uc003suj.3,p.R113S|ENST00000401921,p.R113S|ENST00000524023,p.R79S|ENST00000456174,p.R82S|NM_058176,p.R110S|ENST00000441542,p.R113S|NM_014707,p.R110S|uc003suf.2,p.R141S|NM_001204144,p.R152S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011jyf.2 nonsynonymous SNV exon3 c.G237C p.R79S ELLEKEQKLEQQRQEQEVERHRREQ ELLEKEQKLEQQSQEQEVERHRREQ 6.0 5.0 - - 4235_7:18630033-18630033 G>C_ELLEKEQKLEQQSQEQEVERHRREQ 0.0 17:42978470-42978470 G>T 1.0 4326 BREAST - - - - CCDC103 ENST00000357776,p.R35L|NM_213607,p.R35L|NM_001258399,p.R35L|NM_001258395,p.R35L|ENST00000410027,p.R35L|uc031rba.1,p.R35L|uc002iho.4,p.R35L|NM_001258398,p.R35L|NM_001258396,p.R35L|ENST00000417826,p.R35L|uc031ray.1,p.R35L|NM_001258397,p.R35L|ENST00000577339,p.R35L|ENST00000410006,p.R35L|uc031raz.1,p.R35L|uc031rax.1,p.R35L|uc031raw.1,p.R35L protein_coding uc031rba.1 nonsynonymous SNV exon2 c.G104T p.R35L DEKYKRENAAKLRAVEQRVASYEEF DEKYKRENAAKLLAVEQRVASYEEF 4.0 10.0 - - 4326_17:42978470-42978470 G>T_DEKYKRENAAKLLAVEQRVASYEEF 0.0 18:19153729-19153729 T>C 1.0 4281 COLORECTAL - - - - ESCO1 ENST00000269214,p.D359G|NM_052911,p.D359G|ENST00000383276,p.D359G|uc002kth.1,p.D359G protein_coding, processed_transcript, nonsense_mediated_decay uc002kth.1 nonsynonymous SNV exon4 c.A1076G p.D359G ERQILHQKETNQDVQCNRFFPSRKT ERQILHQKETNQGVQCNRFFPSRKT 6.0 4.0 - - 4281_18:19153729-19153729 T>C_ERQILHQKETNQGVQCNRFFPSRKT 0.0 1:162302895-162302895 G>A 1.0 4196 COLORECTAL - - ID=COSM1290024,COSM1290025;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) - NOS1AP uc010pkr.1,p.V140I|ENST00000530878,p.V140I|uc001gbv.2,p.V145I|NM_014697,p.V145I|NM_001164757,p.V140I|ENST00000361897,p.V145I|uc001gbw.2,p.V140I|ENST00000430120,p.V140I protein_coding, processed_transcript, nonsense_mediated_decay uc010pkr.1 nonsynonymous SNV exon5 c.G418A p.V140I ARDGASNIFRCNVFKSKKKSQAMRI ARDGASNIFRCNIFKSKKKSQAMRI 8.0 6.0 - - 4196_1:162302895-162302895 G>A_ARDGASNIFRCNIFKSKKKSQAMRI 0.0 15:79296188-79296188 G>A 0.0 4275 COLORECTAL 0.0027 - - - RASGRF1 NM_001145648,p.T802M|ENST00000419573,p.T818M|ENST00000394745,p.T34M|uc002beo.3,p.T34M|uc002ber.4,p.T802M|uc002beq.3,p.T818M|NM_002891,p.T818M|uc002bep.3,p.T802M|uc010blm.1,p.T727M|uc010unh.1,p.T213M|ENST00000558480,p.T802M|NM_153815,p.T34M retained_intron, protein_coding, processed_transcript, TEC uc010unh.1 nonsynonymous SNV exon4 c.C638T p.T213M SSFTNKIPDEGDTTPEKPEDPSALS SSFTNKIPDEGDMTPEKPEDPSALS 5.0 2.0 - - 4275_15:79296188-79296188 G>A_SSFTNKIPDEGDMTPEKPEDPSALS 0.0 11:89531533-89531533 G>T 0.0 4275 COLORECTAL - rs146898780 - - TRIM49 NM_020358,p.A375E|ENST00000329758,p.A375E|ENST00000532501,p.A298E|uc001pdb.3,p.A375E protein_coding uc001pdb.3 nonsynonymous SNV exon8 c.C1124A p.A375E KEKNQNEKIDGKAGLFLLGCVKNDI KEKNQNEKIDGKEGLFLLGCVKNDI 1.0 1.0 - - 4275_11:89531533-89531533 G>T_KEKNQNEKIDGKEGLFLLGCVKNDI 0.0 15:88472414-88472414 C>A 0.0 4301 MELANOMA - - - 1 NTRK3 uc010bnh.1,p.X706L|ENST00000558676,p.X706L protein_coding, processed_transcript uc010bnh.1 stoploss exon14 c.G2117T p.X706L RDVYSTDYYRVK RDVYSTDYYRVKLLSQLQDSATELAPCLHVFFIVH 6.0 7.0 - translated beyond stop codon This mutation type can not produce mer (stoploss,p.X706L,c.G2117T,uc010bnh.1) PR 4301_15:88472414-88472414 C>A_RDVYSTDYYRVKLLSQLQDSATELAPCLHVFFIVH 0.0 X:74644535-74644535 G>C 0.0 4287 COLORECTAL - - - - ZDHHC15 uc004ecg.3,p.L230V|NM_001146256,p.L221V|NM_144969,p.L230V|ENST00000373367,p.L230V|ENST00000541184,p.L221V|uc004ech.3,p.L221V protein_coding, processed_transcript uc004ech.3 nonsynonymous SNV exon7 c.C661G p.L221V FVACMFFVSLVILFGYHCWLVSRNK FVACMFFVSLVIVFGYHCWLVSRNK 4.0 8.0 - - 4287_X:74644535-74644535 G>C_FVACMFFVSLVIVFGYHCWLVSRNK 0.0 1:234454623-234454623 G>A 0.0 3795 MELANOMA - - - - SLC35F3 NM_173508,p.E361K|NM_001300845,p.E292K|ENST00000366618,p.E361K|uc001hvy.1,p.E361K|ENST00000366617,p.E292K|uc001hwa.1,p.E292K protein_coding uc001hwa.1 nonsynonymous SNV exon5 c.G874A p.E292K TCIPIILYFTKVEYWSSFDDIPWGN TCIPIILYFTKVKYWSSFDDIPWGN 3.0 8.0 - - 3795_1:234454623-234454623 G>A_TCIPIILYFTKVKYWSSFDDIPWGN 0.0 1:248308963-248308963 C>T 0.0 4081 COLORECTAL - - ID=COSM267072;OCCURENCE=2(NS),1(endometrium),1(large_intestine) - OR2M5 uc010pze.2,p.R172W|NM_001004690,p.R172W|ENST00000366476,p.R172W protein_coding uc010pze.2 nonsynonymous SNV exon1 c.C514T p.R172W AVATFSFSYCGSREIAHFFCDFPSL AVATFSFSYCGSWEIAHFFCDFPSL 1.0 10.0 - - 4081_1:248308963-248308963 C>T_AVATFSFSYCGSWEIAHFFCDFPSL 0.0 3:173996843-173996843 G>A 1.0 2556 MELANOMA - - - - NLGN1 uc003fio.1,p.R351Q|uc010hww.1,p.R391Q|ENST00000545397,p.R351Q|ENST00000457714,p.R351Q|ENST00000401917,p.R391Q|ENST00000361589,p.R351Q|uc003fip.1,p.R351Q|NM_014932,p.R351Q|uc021xhm.1,p.R391Q protein_coding, processed_transcript uc021xhm.1 nonsynonymous SNV exon6 c.G1172A p.R391Q YKELVDQDIQPARYHIAFGPVIDGD YKELVDQDIQPAQYHIAFGPVIDGD 9.0 2.0 - - 2556_3:173996843-173996843 G>A_YKELVDQDIQPAQYHIAFGPVIDGD 0.0 2:219544686-219544686 C>T 1.0 3713 MELANOMA - - - - STK36 ENST00000392106,p.P340L|ENST00000392105,p.P340L|NM_015690,p.P340L|ENST00000440309,p.P340L|NM_001243313,p.P340L|uc002viv.3,p.P340L|uc002viu.3,p.P340L|ENST00000295709,p.P340L retained_intron, protein_coding, nonsense_mediated_decay uc002viv.3 nonsynonymous SNV exon9 c.C1019T p.P340L EDKTSKVAPGTAPLPRLGATPQESS EDKTSKVAPGTALLPRLGATPQESS 9.0 5.0 - - 3713_2:219544686-219544686 C>T_EDKTSKVAPGTALLPRLGATPQESS 0.0 2:192255065-192255065 C>T 1.0 3466 MELANOMA - - - - MYO1B NM_012223,p.A610V|ENST00000392316,p.A610V|uc002usq.2,p.A610V|ENST00000304164,p.A610V|NM_001161819,p.A610V|NM_001130158,p.A610V|uc010fsg.2,p.A610V|ENST00000392318,p.A610V|ENST00000339514,p.A610V|uc002usr.2,p.A610V retained_intron, protein_coding, processed_transcript uc010fsg.2 nonsynonymous SNV exon18 c.C1829T p.A610V PNDKKAAHIFNEALVCHQIRYLGLL PNDKKAAHIFNEVLVCHQIRYLGLL 8.0 8.0 - - 3466_2:192255065-192255065 C>T_PNDKKAAHIFNEVLVCHQIRYLGLL 0.0 1:240371764-240371764 C>T 0.0 4301 MELANOMA - - - - FMN2 uc010pye.2,p.P1222S|ENST00000319653,p.P1218S|uc010pyd.2,p.P1218S|NM_020066,p.P1218S protein_coding, processed_transcript uc010pye.2 nonsynonymous SNV exon6 c.C3664T p.P1222S IPPPPPLPGMGIPPAPAPPLPPPGT IPPPPPLPGMGISPAPAPPLPPPGT 3.0 5.0 - - 4301_1:240371764-240371764 C>T_IPPPPPLPGMGISPAPAPPLPPPGT 0.0 19:44933932-44933932 C>T 1.0 2369 MELANOMA - - - - ZNF229 uc010ejl.1,p.A336T|uc002oze.1,p.A342T|ENST00000291187,p.A336T|NM_001278510,p.A336T|NM_014518,p.A342T|ENST00000588931,p.A342T protein_coding, processed_transcript, nonsense_mediated_decay uc010ejl.1 nonsynonymous SNV exon6 c.G1006A p.A336T VRQNTHIRNHPRAPVGDMPYRCDVC VRQNTHIRNHPRTPVGDMPYRCDVC 5.0 7.0 - - 2369_19:44933932-44933932 C>T_VRQNTHIRNHPRTPVGDMPYRCDVC 0.0 2:103095694-103095694 C>A 0.0 4298 COLORECTAL - - - - SLC9A4 uc002tbz.4,p.A218E|ENST00000295269,p.A218E|NM_001011552,p.A218E retained_intron, protein_coding uc002tbz.4 nonsynonymous SNV exon2 c.C653A p.A218E VDPVAVLAVFEEARVNEQLYMMIFG VDPVAVLAVFEEERVNEQLYMMIFG 2.0 7.0 - - 4298_2:103095694-103095694 C>A_VDPVAVLAVFEEERVNEQLYMMIFG 0.0 3:158983149-158983149 A>C 0.0 4158 COLORECTAL - - - - IQCJ ENST00000451172,p.K146T|uc010hvy.2,p.K119T|NM_001197100,p.K119T|NM_001042705,p.K146T|uc003fcp.2,p.K146T|ENST00000482126,p.K119T protein_coding, processed_transcript uc010hvy.2 nonsynonymous SNV exon4 c.A356C p.K119T QLARPTGFIHTLKEPQIERLGFLTL QLARPTGFIHTLTEPQIERLGFLTL 2.0 5.0 - - 4158_3:158983149-158983149 A>C_QLARPTGFIHTLTEPQIERLGFLTL 0.0 19:50861863-50861863 G>A 0.0 4240 BREAST - - ID=COSM382111;OCCURENCE=1(lung) - NAPSA ENST00000253719,p.R404C|NM_004851,p.R404C|uc002prx.3,p.R404C retained_intron, protein_coding, nonsense_mediated_decay uc002prx.3 nonsynonymous SNV exon9 c.C1210T p.R404C SSARVGLARARTRGADLGWGETAQA SSARVGLARARTCGADLGWGETAQA 3.0 8.0 - - 4240_19:50861863-50861863 G>A_SSARVGLARARTCGADLGWGETAQA 0.0 10:50669473-50669473 C>T 1.0 4258 ENDOMETRIAL - - - - ERCC6 NM_000124,p.R1303Q|uc001jhr.5,p.R671Q|uc010qgr.3,p.R673Q|uc009xod.4,p.R463Q|ENST00000542458,p.R673Q|ENST00000355832,p.R1303Q|uc001jhs.5,p.R1303Q protein_coding, processed_transcript uc010qgr.3 nonsynonymous SNV exon13 c.G2018A p.R673Q QDALKALRLSRQRCLGAVSGVPTWT QDALKALRLSRQQCLGAVSGVPTWT 6.0 9.0 - - 4258_10:50669473-50669473 C>T_QDALKALRLSRQQCLGAVSGVPTWT 0.0 14:94707109-94707109 G>A 1.0 2369 MELANOMA - - - - PPP4R4 uc001ycs.1,p.G318E|ENST00000304338,p.G318E|NM_058237,p.G318E protein_coding, processed_transcript uc001ycs.1 nonsynonymous SNV exon9 c.G953A p.G318E DESILISLSFHLGKLCHGLYGIFTP DESILISLSFHLEKLCHGLYGIFTP 4.0 8.0 - - 2369_14:94707109-94707109 G>A_DESILISLSFHLEKLCHGLYGIFTP 0.0 1:2700215-2700215 G>A 0.0 4266 COLORECTAL 0.0032 - - - TTC34 uc021oey.1,p.P209L|ENST00000401095,p.P209L|NM_001242672,p.P209L retained_intron, protein_coding uc021oey.1 nonsynonymous SNV exon4 c.C626T p.P209L AMFDFNTVLRAEPGNVQALCGRALV AMFDFNTVLRAELGNVQALCGRALV 2.0 2.0 - - 4266_1:2700215-2700215 G>A_AMFDFNTVLRAELGNVQALCGRALV 0.0 17:45199928-45199928 C>T 1.0 3678 MELANOMA - - - - CDC27 ENST00000527547,p.M757I|ENST00000446365,p.M697I|uc002ild.4,p.M758I|ENST00000066544,p.M758I|NM_001293091,p.M697I|NM_001114091,p.M764I|NM_001293089,p.M757I|NM_001256,p.M758I|ENST00000531206,p.M764I|uc010wkp.2,p.M697I|uc002ile.4,p.M764I|uc002ilf.4,p.M757I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wkp.2 nonsynonymous SNV exon17 c.G2091A p.M697I VYKKLGQTHLALMNFSWAMDLDPKG VYKKLGQTHLALINFSWAMDLDPKG 9.0 8.0 - - 3678_17:45199928-45199928 C>T_VYKKLGQTHLALINFSWAMDLDPKG 0.0 6:66115128-66115128 T>C 0.0 4213 COLORECTAL - - - - EYS uc021zbn.1,p.D332G|uc011dxu.1,p.D332G|NM_198283,p.D332G|ENST00000503581,p.D332G|ENST00000370621,p.D332G|ENST00000393380,p.D332G|NM_001142801,p.D332G|uc003per.1,p.D332G|ENST00000342421,p.D332G|NM_001142800,p.D332G|uc003peq.3,p.D332G|NM_001292009,p.D332G|ENST00000370616,p.D332G|ENST00000370618,p.D332G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021zbn.1 nonsynonymous SNV exon6 c.A995G p.D332G CPKGSSSQNGETDVSEFSLVPCQNG CPKGSSSQNGETGVSEFSLVPCQNG 4.0 5.0 - - 4213_6:66115128-66115128 T>C_CPKGSSSQNGETGVSEFSLVPCQNG 0.0 14:39796122-39796122 A>T 0.0 4149 OVARIAN - - - - CTAGE5 ENST00000396158,p.E581V|uc010amz.3,p.E192V|uc001wva.4,p.E547V|NM_005930,p.E576V|ENST00000348007,p.E533V|ENST00000556148,p.E501V|uc001wvh.4,p.E533V|NM_203354,p.E564V|ENST00000280083,p.E576V|ENST00000553728,p.E1111V|ENST00000341749,p.E564V|ENST00000341502,p.E576V|uc001wuy.4,p.E496V|NM_203355,p.E533V|uc001wvc.4,p.E478V|NM_001247988,p.E504V|uc001wvg.4,p.E576V|ENST00000396165,p.E547V|ENST00000603904,p.E547V|uc001wvb.4,p.E504V|NM_203356,p.E547V|uc001wvj.4,p.E547V|uc001wvf.4,p.E501V|uc001wvi.4,p.E581V|uc001wuz.4,p.E564V|ENST00000557038,p.E496V|uc010tqe.1,p.E538V|ENST00000553352,p.E547V|NM_001247989,p.E581V|NM_001247990,p.E501V protein_coding, processed_transcript uc010tqe.1 nonsynonymous SNV exon19 c.A1613T p.E538V NPLDHQITNERGESSCDRLTDPHRA NPLDHQITNERGVSSCDRLTDPHRA 8.0 8.0 - - 4149_14:39796122-39796122 A>T_NPLDHQITNERGVSSCDRLTDPHRA 0.0 17:73814834-73814834 C>T 1.0 3713 MELANOMA - - - - UNK ENST00000589666,p.P495S|uc021udd.2,p.P495S|NM_001080419,p.P495S|ENST00000293218,p.P571S retained_intron, protein_coding, nonsense_mediated_decay uc021udd.2 nonsynonymous SNV exon11 c.C1483T p.P495S ATPPSPVGTSSVPGMNANALPFYPT ATPPSPVGTSSVSGMNANALPFYPT 8.0 7.0 - - 3713_17:73814834-73814834 C>T_ATPPSPVGTSSVSGMNANALPFYPT 0.0 2:86360313-86360313 C>A 1.0 4189 MELANOMA - - - - PTCD3 uc002sqw.2,p.F462L|uc002sqx.1,p.F52L|ENST00000254630,p.F462L|NM_017952,p.F462L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002sqx.1 nonsynonymous SNV exon8 c.C156A p.F52L PDQHRNFYYSKFFDLICLMEQIDVT PDQHRNFYYSKFLDLICLMEQIDVT 10.0 7.0 - - 4189_2:86360313-86360313 C>A_PDQHRNFYYSKFLDLICLMEQIDVT 0.0 19:3382043-3382043 C>T 1.0 3998 MELANOMA - - - - NFIC uc010xhj.2,p.R122W|NM_001245004,p.R122W|ENST00000589123,p.R113W|ENST00000346156,p.R113W|NM_005597,p.R122W|ENST00000443272,p.R122W|ENST00000395111,p.R113W|ENST00000590282,p.R122W|uc002lxo.3,p.R113W|ENST00000586919,p.R113W|NM_001245002,p.R122W|uc010xhh.2,p.R113W|ENST00000341919,p.R122W|NM_205843,p.R113W|NM_001245005,p.R113W|uc010xhi.2,p.R122W|uc002lxp.3,p.R122W retained_intron, protein_coding, processed_transcript uc010xhj.2 nonsynonymous SNV exon2 c.C364T p.R122W DQKGKMRRIDCLRQADKVWRLDLVM DQKGKMRRIDCLWQADKVWRLDLVM 9.0 8.0 - - 3998_19:3382043-3382043 C>T_DQKGKMRRIDCLWQADKVWRLDLVM 0.0 11:40137302-40137302 C>T 0.0 3795 MELANOMA - - - - LRRC4C uc031pzu.1,p.E181K|uc031pzt.1,p.E181K|ENST00000528697,p.E181K|ENST00000527150,p.E181K|ENST00000278198,p.E181K|uc001mxb.2,p.E177K|ENST00000530763,p.E181K|uc031pzs.1,p.E177K|NM_020929,p.E181K|NM_001258419,p.E181K|uc021qgf.1,p.E181K protein_coding, processed_transcript uc031pzu.1 nonsynonymous SNV exon5 c.G541A p.E181K NRIPSLRRLDLGELKRLSYISEGAF NRIPSLRRLDLGKLKRLSYISEGAF 1.0 10.0 - - 3795_11:40137302-40137302 C>T_NRIPSLRRLDLGKLKRLSYISEGAF 0.0 19:38014348-38014348 G>A 0.0 4081 COLORECTAL 0 - - - ZNF793 ENST00000542455,p.E3K|ENST00000588578,p.E3K|NM_001013659,p.E3K|uc010xts.2,p.E3K|ENST00000587986,p.E3K|uc031rkk.1,p.E3K|uc010efm.3,p.E3K|ENST00000586138,p.E3K|ENST00000589319,p.E3K|ENST00000587143,p.E3K|ENST00000445217,p.E3K protein_coding, nonsense_mediated_decay uc031rkk.1 nonsynonymous SNV exon5 c.G7A p.E3K MIEYQIPVSFKDVVV MIKYQIPVSFKDVVV 3.0 10.0 - - 4081_19:38014348-38014348 G>A_MIKYQIPVSFKDVVV 0.0 7:76912006-76912006 G>A 1.0 4252 COLORECTAL - - - - CCDC146 uc010ldp.3,p.M398I|ENST00000431197,p.M398I|uc003uga.3,p.M684I|ENST00000285871,p.M684I|uc003ugc.3,p.M21I|NM_020879,p.M684I retained_intron, protein_coding, processed_transcript uc010ldp.3 nonsynonymous SNV exon7 c.G1194A p.M398I IHLLEEKIQFLKMKIAEKQRQICVT IHLLEEKIQFLKIKIAEKQRQICVT 7.0 6.0 - - 4252_7:76912006-76912006 G>A_IHLLEEKIQFLKIKIAEKQRQICVT 0.0 1:41948255-41948255 T>A 1.0 4326 BREAST - - - - EDN2 NM_001956,p.T76S|ENST00000372587,p.T76S|uc001cgx.3,p.T76S protein_coding, processed_transcript uc001cgx.3 nonsynonymous SNV exon3 c.A226T p.T76S HLDIIWVNTPEQTAPYGLGNPPRRR HLDIIWVNTPEQSAPYGLGNPPRRR 8.0 5.0 - - 4326_1:41948255-41948255 T>A_HLDIIWVNTPEQSAPYGLGNPPRRR 0.0 5:140554097-140554097 G>A 1.0 4237 NSCLC - - ID=COSM1434237;OCCURENCE=1(large_intestine) - PCDHB7 ENST00000231137,p.V561M|uc003lit.3,p.V561M|NM_018940,p.V561M protein_coding uc003lit.3 nonsynonymous SNV exon1 c.G1681A p.V561M VLVLDANDNSPFVLYPLQNSSAPCT VLVLDANDNSPFMLYPLQNSSAPCT 6.0 7.0 - - 4237_5:140554097-140554097 G>A_VLVLDANDNSPFMLYPLQNSSAPCT 0.0 8:143957809-143957809 C>T 0.0 4275 COLORECTAL - - - - CYP11B1 NM_001026213,p.D268N|ENST00000292427,p.D268N|uc003yxi.3,p.D268N|ENST00000377675,p.D339N|uc010mey.3,p.D339N|ENST00000517471,p.D268N|uc003yxj.3,p.D268N|NM_000497,p.D268N retained_intron, protein_coding uc010mey.3 nonsynonymous SNV exon7 c.G1015A p.D339N HFEAWDCIFQYGDNCIQKIYQELAF HFEAWDCIFQYGNNCIQKIYQELAF 1.0 3.0 - - 4275_8:143957809-143957809 C>T_HFEAWDCIFQYGNNCIQKIYQELAF 0.0 1:162773300-162773300 C>T 1.0 4329 COLORECTAL - - - - HSD17B7 NM_016371,p.T241M|uc001gci.3,p.T241M|ENST00000254521,p.T241M protein_coding, processed_transcript, nonsense_mediated_decay uc001gci.3 nonsynonymous SNV exon6 c.C722T p.T241M NLTYGILPPFIWTLLMPAILLLRFF NLTYGILPPFIWMLLMPAILLLRFF 9.0 8.0 - - 4329_1:162773300-162773300 C>T_NLTYGILPPFIWMLLMPAILLLRFF 0.0 7:121960313-121960313 C>T 1.0 4136 BREAST - - ID=COSM3411530,COSM3411529;OCCURENCE=1(central_nervous_system) - CADPS2 ENST00000412584,p.R1225H|uc010lkq.3,p.R1225H|uc022akr.1,p.R1266H|ENST00000449022,p.R1266H|ENST00000313070,p.R1225H|uc003vkg.4,p.R920H|NM_001167940,p.R1270H|NM_001009571,p.R1225H|NM_017954,p.R1266H|ENST00000334010,p.R1264H protein_coding, processed_transcript uc022akr.1 nonsynonymous SNV exon30 c.G3797A p.R1266H TLNSKTYDTVHRRLTVEEATASVSE TLNSKTYDTVHRHLTVEEATASVSE 8.0 8.0 CD8 - 4136_7:121960313-121960313 C>T_TLNSKTYDTVHRHLTVEEATASVSE 1.0 4:57220918-57220918 T>C 0.0 4335 COLORECTAL - - - - AASDH uc003hbn.3,p.D388G|ENST00000513376,p.D288G|NM_181806,p.D388G|uc003hbo.3,p.D288G|uc010ihc.3,p.D388G|uc003hbp.3,p.D388G|NM_001286671,p.D388G|NM_001286669,p.D235G|uc011caa.2,p.D235G|ENST00000451613,p.D388G|NM_001286672,p.D388G|NM_001286668,p.D288G|ENST00000602986,p.D235G|ENST00000205214,p.D388G|ENST00000502617,p.D388G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011caa.2 nonsynonymous SNV exon6 c.A704G p.D235G GFPLLGTVVEVRDTNGFTIQEGSGQ GFPLLGTVVEVRGTNGFTIQEGSGQ 7.0 8.0 - - 4335_4:57220918-57220918 T>C_GFPLLGTVVEVRGTNGFTIQEGSGQ 0.0 3:48697646-48697646 C>A 1.0 4287 COLORECTAL - - - - CELSR3 NM_001407,p.G808W|ENST00000164024,p.G808W|uc003cul.3,p.G808W|ENST00000544264,p.G808W|uc003cuf.1,p.G878W retained_intron, protein_coding uc003cul.3 nonsynonymous SNV exon1 c.G2422T p.G808W GNTRNRFAISTQGGVGLVTLALPLD GNTRNRFAISTQWGVGLVTLALPLD 3.0 10.0 - - 4287_3:48697646-48697646 C>A_GNTRNRFAISTQWGVGLVTLALPLD 0.0 15:32460449-32460449 G>T 0.0 4316 COLORECTAL - - - - CHRNA7 NM_000746,p.L433F|uc010bak.3,p.L348F|uc001zft.4,p.L433F|ENST00000455693,p.L252F|uc021sic.2,p.L462F|ENST00000306901,p.L433F|NM_001190455,p.L462F|ENST00000454250,p.L462F|uc010baf.4,p.L252F protein_coding, nonsense_mediated_decay uc021sic.2 nonsynonymous SNV exon10 c.G1386T p.L462F LHGGQPPEGDPDLAKILEEVRYIAN LHGGQPPEGDPDFAKILEEVRYIAN 2.0 5.0 - - 4316_15:32460449-32460449 G>T_LHGGQPPEGDPDFAKILEEVRYIAN 0.0 7:82582687-82582687 C>T 0.0 4301 MELANOMA - - - - PCLO NM_033026,p.D2528N|uc003uhx.2,p.D2528N|uc003uhv.2,p.D2528N|ENST00000423517,p.D2528N|ENST00000333891,p.D2528N|NM_014510,p.D2528N protein_coding, processed_transcript, nonsense_mediated_decay uc003uhx.2 nonsynonymous SNV exon5 c.G7582A p.D2528N IPQLPTTTQKPTDIHPKPTGLSLTS IPQLPTTTQKPTNIHPKPTGLSLTS 4.0 10.0 - - 4301_7:82582687-82582687 C>T_IPQLPTTTQKPTNIHPKPTGLSLTS 0.0 12:117426562-117426562 C>T 1.0 3879 MELANOMA - - - - FBXW8 NM_012174,p.S310F|ENST00000309909,p.S376F|uc001twf.1,p.S310F|ENST00000455858,p.S310F|uc001twg.1,p.S376F|NM_153348,p.S376F protein_coding, processed_transcript uc001twg.1 nonsynonymous SNV exon7 c.C1127T p.S376F AGDLMYLLKAEDSARTLLYAHGPPV AGDLMYLLKAEDFARTLLYAHGPPV 7.0 6.0 - - 3879_12:117426562-117426562 C>T_AGDLMYLLKAEDFARTLLYAHGPPV 0.0 X:88008772-88008772 G>A 0.0 4326 BREAST - - - - CPXCR1 uc022bzq.1,p.M119I|uc004efd.4,p.M119I|NM_033048,p.M119I|ENST00000276127,p.M119I|NM_001184771,p.M119I|ENST00000373111,p.M119I|uc004efc.4,p.M119I protein_coding uc022bzq.1 nonsynonymous SNV exon1 c.G357A p.M119I NDRSRSHSGKVEMKANNFPINHKTR NDRSRSHSGKVEIKANNFPINHKTR 1.0 4.0 - - 4326_X:88008772-88008772 G>A_NDRSRSHSGKVEIKANNFPINHKTR 0.0 12:113545997-113545997 G>C 1.0 3775 CERVICAL - - - - RASAL1 NM_004658,p.L469V|uc001tuo.4,p.L469V|uc001tum.2,p.L469V|uc010syq.2,p.L469V|ENST00000261729,p.L469V|uc001tul.3,p.L469V|uc010syr.2,p.L469V|NM_001193521,p.L469V|NM_001301202,p.L469V|ENST00000446861,p.L469V|uc010syp.2,p.L469V|ENST00000548055,p.L469V retained_intron, protein_coding, processed_transcript uc010syr.2 nonsynonymous SNV exon14 c.C1405G p.L469V HQDVKYLAISGFLFLRFFAPAILTP HQDVKYLAISGFVFLRFFAPAILTP 5.0 10.0 - - 3775_12:113545997-113545997 G>C_HQDVKYLAISGFVFLRFFAPAILTP 0.0 1:158590071-158590071 C>A 0.0 4259 COLORECTAL - - - - SPTA1 ENST00000368148,p.L2102F|uc001fst.1,p.L2102F|ENST00000368147,p.L2099F|NM_003126,p.L2102F protein_coding, processed_transcript uc001fst.1 nonsynonymous SNV exon44 c.G6306T p.L2102F ASLARAQADFKCLLELDQQIKALGV ASLARAQADFKCFLELDQQIKALGV 2.0 8.0 - - 4259_1:158590071-158590071 C>A_ASLARAQADFKCFLELDQQIKALGV 0.0 16:66998347-66998347 C>A 0.0 4240 BREAST - - - - CES3 ENST00000570236,p.F216L|NM_001185177,p.F216L|ENST00000394037,p.F216L|NM_024922,p.F216L|uc002eqt.3,p.F216L|ENST00000303334,p.F216L|uc010cdz.3,p.F216L retained_intron, protein_coding, nonsense_mediated_decay uc010cdz.3 nonsynonymous SNV exon5 c.C648A p.F216L AALRWVQENIAPFGGDLNCVTVFGG AALRWVQENIAPLGGDLNCVTVFGG 3.0 8.0 - - 4240_16:66998347-66998347 C>A_AALRWVQENIAPLGGDLNCVTVFGG 0.0 12:83526003-83526003 G>T 1.0 4129 NSCLC - - - - TMTC2 NM_152588,p.L782F|ENST00000549919,p.L776F|uc010suk.2,p.L537F|ENST00000321196,p.L782F|uc001szt.3,p.L782F retained_intron, protein_coding uc010suk.2 nonsynonymous SNV exon11 c.G1611T p.L537F LAARLRPNYPAALMNLGAILHLNGR LAARLRPNYPAAFMNLGAILHLNGR 5.0 7.0 - - 4129_12:83526003-83526003 G>T_LAARLRPNYPAAFMNLGAILHLNGR 0.0 X:154009994-154009994 A>T 0.0 4316 COLORECTAL - - - - MPP1 ENST00000413259,p.S314T|NM_001166461,p.S324T|NM_001166462,p.S314T|ENST00000393531,p.S324T|uc011mzw.2,p.S327T|uc010nvg.2,p.S324T|uc004fmp.2,p.S344T|NM_001166460,p.S327T|NM_002436,p.S344T|uc011mzv.2,p.S314T|ENST00000369534,p.S344T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011mzw.2 nonsynonymous SNV exon10 c.T979A p.S327T HFISTEEMTRNISANEFLEFGSYQG HFISTEEMTRNITANEFLEFGSYQG 5.0 7.0 - - 4316_X:154009994-154009994 A>T_HFISTEEMTRNITANEFLEFGSYQG 0.0 1:32086678-32086678 C>T 0.0 4287 COLORECTAL - - - - HCRTR1 ENST00000373706,p.R205C|uc001btd.2,p.R205C|ENST00000403528,p.R205C|NM_001525,p.R205C|uc001btc.4,p.R119C|uc010ogl.2,p.R205C|uc009vtx.2,p.R205C|ENST00000373705,p.R205C protein_coding, processed_transcript uc010ogl.2 nonsynonymous SNV exon3 c.C613T p.R205C ANRTRLFSVCDERWADDLYPKIYHS ANRTRLFSVCDECWADDLYPKIYHS 1.0 10.0 - - 4287_1:32086678-32086678 C>T_ANRTRLFSVCDECWADDLYPKIYHS 0.0 2:189931462-189931462 C>T 1.0 3919 MELANOMA - - ID=COSM1530199;OCCURENCE=1(lung) - COL5A2 uc002uqk.3,p.G483E|ENST00000374866,p.G483E|NM_000393,p.G483E retained_intron, protein_coding uc002uqk.3 nonsynonymous SNV exon22 c.G1448A p.G483E GVPGFKGEAGPKGEPGPHGIQGPIG GVPGFKGEAGPKEEPGPHGIQGPIG 5.0 1.0 - - 3919_2:189931462-189931462 C>T_GVPGFKGEAGPKEEPGPHGIQGPIG 0.0 1:154961242-154961242 G>T 1.0 4240 BREAST - - - - FLAD1 uc001fge.2,p.R248L|uc001fgc.3,p.R246L|NM_201398,p.R248L|ENST00000368432,p.R248L|uc001fgh.1,p.R78L|ENST00000368431,p.R246L|ENST00000315144,p.R248L|uc021paj.1,p.R246L|ENST00000295530,p.R78L|ENST00000292180,p.R345L|uc001fgg.2,p.R248L|NM_001184891,p.R248L|ENST00000405236,p.R246L|NM_025207,p.R345L|uc001fgf.2,p.R345L|NM_001184892,p.R246L|uc001fgd.2,p.R345L|ENST00000368433,p.R345L protein_coding, processed_transcript uc021paj.1 nonsynonymous SNV exon1 c.G737T p.R246L GPLEECLAYLTARLPQGSLVPYMPN GPLEECLAYLTALLPQGSLVPYMPN 10.0 9.0 - - 4240_1:154961242-154961242 G>T_GPLEECLAYLTALLPQGSLVPYMPN 0.0 2:113943552-113943552 G>A 0.0 2591 MELANOMA - - - - PSD4 uc002tje.3,p.E421K|ENST00000441564,p.E422K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002tje.3 nonsynonymous SNV exon5 c.G1261A p.E421K TLNSQDREPSSPESESRGPGPRPSP TLNSQDREPSSPKSESRGPGPRPSP 3.0 2.0 - - 2591_2:113943552-113943552 G>A_TLNSQDREPSSPKSESRGPGPRPSP 0.0 11:10622545-10622545 G>A 0.0 4245 COLORECTAL - - - - MRVI1 ENST00000558540,p.T331M|ENST00000552103,p.T555M|uc009ygd.1,p.T331M|NM_130385,p.T646M|ENST00000547195,p.T555M|ENST00000534266,p.T331M|uc001mix.3,p.T331M|NM_001206880,p.T440M|uc010rcc.1,p.T646M|ENST00000527509,p.T555M|uc010rcb.1,p.T638M|uc010rcd.1,p.T440M|NM_001100167,p.T331M|NM_001098579,p.T638M|ENST00000545852,p.T331M|ENST00000531107,p.T638M|ENST00000423302,p.T646M|NM_001100163,p.T555M|ENST00000541483,p.T440M|NM_001206881,p.T331M|ENST00000424001,p.T331M|ENST00000526414,p.T389M|ENST00000436272,p.T619M|ENST00000421747,p.T637M|uc001miz.2,p.T555M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010rcd.1 nonsynonymous SNV exon14 c.C1319T p.T440M EVMMQYVENLKRTYEKDHAELMEFK EVMMQYVENLKRMYEKDHAELMEFK 6.0 8.0 - - 4245_11:10622545-10622545 G>A_EVMMQYVENLKRMYEKDHAELMEFK 0.0 13:53035634-53035634 G>A 1.0 3713 MELANOMA - - - - CKAP2 uc001vgt.2,p.V225I|NM_001286686,p.V177I|ENST00000378034,p.V225I|NM_018204,p.V225I|ENST00000490903,p.V177I|ENST00000378037,p.V226I|uc001vgu.2,p.V225I|NM_001286687,p.V225I|NM_001098525,p.V226I|uc010tha.1,p.V177I|uc001vgv.2,p.V226I|ENST00000258607,p.V225I retained_intron, protein_coding uc010tha.1 nonsynonymous SNV exon4 c.G529A p.V177I KATKPQPVNTSSVTVKSNRSSNMTA KATKPQPVNTSSITVKSNRSSNMTA 7.0 7.0 - - 3713_13:53035634-53035634 G>A_KATKPQPVNTSSITVKSNRSSNMTA 0.0 2:72968569-72968569 C>T 1.0 4278 COLORECTAL 0 - - - EXOC6B uc002sij.2,p.R48H|uc010fep.3,p.R48H|ENST00000410104,p.R48H|NM_015189,p.R48H|ENST00000272427,p.R48H protein_coding, processed_transcript, nonsense_mediated_decay uc010fep.3 nonsynonymous SNV exon2 c.G143A p.R48H TLRSVYDGEEHGRFMEKLETRIRNH TLRSVYDGEEHGHFMEKLETRIRNH 9.0 10.0 - - 4278_2:72968569-72968569 C>T_TLRSVYDGEEHGHFMEKLETRIRNH 0.0 11:36596296-36596296 G>T 1.0 4287 COLORECTAL - - - - RAG1 ENST00000534663,p.C481F|NM_000448,p.C481F|uc021qgb.1,p.C481F|ENST00000299440,p.C481F|uc001mwu.4,p.C481F protein_coding, processed_transcript, nonsense_mediated_decay uc021qgb.1 nonsynonymous SNV exon1 c.G1442T p.C481F VCLAIRVNTFLSCSQYHKMYRTVKA VCLAIRVNTFLSFSQYHKMYRTVKA 5.0 9.0 - - 4287_11:36596296-36596296 G>T_VCLAIRVNTFLSFSQYHKMYRTVKA 0.0 12:49425353-49425353 G>A 1.0 3713 MELANOMA - - - 1 KMT2D uc001rta.4,p.P4379S|ENST00000301067,p.P4379S|NM_003482,p.P4379S retained_intron, protein_coding, processed_transcript uc001rta.4 nonsynonymous SNV exon39 c.C13135T p.P4379S DTLFSKGLGPWDPPDNLAETQKPEQ DTLFSKGLGPWDSPDNLAETQKPEQ 9.0 5.0 - - 3713_12:49425353-49425353 G>A_DTLFSKGLGPWDSPDNLAETQKPEQ 0.0 2:228137792-228137792 C>T 0.0 4240 BREAST 0.0018 - ID=COSM442421,COSM442420;OCCURENCE=1(breast) - COL4A3 uc002vom.2,p.T629M|ENST00000396578,p.T629M|NM_000091,p.T629M retained_intron, protein_coding, processed_transcript uc002vom.2 nonsynonymous SNV exon26 c.C1886T p.T629M GYGPQGEPGLQGTQGVPGAPGPPGE GYGPQGEPGLQGMQGVPGAPGPPGE 2.0 7.0 - - 4240_2:228137792-228137792 C>T_GYGPQGEPGLQGMQGVPGAPGPPGE 0.0 11:64824895-64824895 A>G 0.0 4345 COLORECTAL - - - - NAALADL1 ENST00000358658,p.L184P|ENST00000339885,p.L184P|NM_005468,p.L184P|ENST00000355369,p.L184P|ENST00000356632,p.L184P|uc001ocn.3,p.L184P|ENST00000340252,p.L184P retained_intron, protein_coding, nonsense_mediated_decay uc001ocn.3 nonsynonymous SNV exon4 c.T551C p.L184P EDFKELQTQGIKLEGTIALTRYGGV EDFKELQTQGIKPEGTIALTRYGGV 5.0 6.0 - - 4345_11:64824895-64824895 A>G_EDFKELQTQGIKPEGTIALTRYGGV 0.0 3:122829849-122829849 C>A 1.0 3678 MELANOMA - - - - PDIA5 uc003egc.2,p.P180H|NM_006810,p.P180H|ENST00000316218,p.P180H|ENST00000489923,p.P180H protein_coding, processed_transcript, nonsense_mediated_decay uc003egc.2 nonsynonymous SNV exon7 c.C539A p.P180H KEEKPLLIMFYAPWCSMCKRMMPHF KEEKPLLIMFYAHWCSMCKRMMPHF 8.0 1.0 - - 3678_3:122829849-122829849 C>A_KEEKPLLIMFYAHWCSMCKRMMPHF 0.0 12:106633373-106633373 A>C 1.0 4037 NSCLC - - - - CKAP4 uc001tlk.3,p.L413R|ENST00000378026,p.L413R|NM_006825,p.L413R protein_coding, processed_transcript uc001tlk.3 nonsynonymous SNV exon2 c.T1238G p.L413R ALQQKSQGLDSRLQHVEDGVLSMQV ALQQKSQGLDSRRQHVEDGVLSMQV 10.0 10.0 - - 4037_12:106633373-106633373 A>C_ALQQKSQGLDSRRQHVEDGVLSMQV 0.0 1:76349465-76349465 A>C 0.0 4298 COLORECTAL - - - - MSH4 uc001dhd.2,p.Y689S|NM_002440,p.Y689S|ENST00000263187,p.Y689S protein_coding uc001dhd.2 nonsynonymous SNV exon15 c.A2066C p.Y689S IITGPNMSGKSTYLKQIALCQIMAQ IITGPNMSGKSTSLKQIALCQIMAQ 2.0 7.0 - - 4298_1:76349465-76349465 A>C_IITGPNMSGKSTSLKQIALCQIMAQ 0.0 15:32928613-32928613 G>A 1.0 3713 MELANOMA - - - - ARHGAP11A uc010ubx.1,p.E358K|ENST00000565905,p.E358K|NM_014783,p.E547K|uc010ubw.1,p.E358K|ENST00000543522,p.E358K|ENST00000361627,p.E547K|NM_001286480,p.E358K|NM_001286479,p.E358K|uc001zgy.1,p.E547K retained_intron, protein_coding, processed_transcript uc010ubx.1 nonsynonymous SNV exon13 c.G1072A p.E358K NEASSMVENLEVENSLEPDIMVEKS NEASSMVENLEVKNSLEPDIMVEKS 5.0 9.0 - - 3713_15:32928613-32928613 G>A_NEASSMVENLEVKNSLEPDIMVEKS 0.0 5:465242-465242 C>T 1.0 4287 COLORECTAL - - - - EXOC3 uc003jba.3,p.A598V|NM_007277,p.A598V|ENST00000315013,p.A598V|ENST00000512944,p.A598V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003jba.3 nonsynonymous SNV exon11 c.C1793T p.A598V IKKPYKKRMTAEAHRRVVVEYLRAV IKKPYKKRMTAEVHRRVVVEYLRAV 7.0 10.0 - - 4287_5:465242-465242 C>T_IKKPYKKRMTAEVHRRVVVEYLRAV 0.0 17:39925404-39925404 G>A 1.0 3713 MELANOMA - - - - JUP ENST00000393931,p.S175L|ENST00000420370,p.S175L|uc002hxr.2,p.S175L|uc002hxq.2,p.S175L|NM_002230,p.S175L|uc010wfs.2,p.S175L|ENST00000540235,p.S175L|ENST00000424457,p.S175L|uc002hxs.2,p.S175L|ENST00000437187,p.S175L|ENST00000393930,p.S175L|ENST00000310706,p.S175L|NM_021991,p.S175L|ENST00000449889,p.S175L retained_intron, protein_coding uc010wfs.2 nonsynonymous SNV exon3 c.C524T p.S175L AMIVNQLSKKEASRRALMGSPQLVA AMIVNQLSKKEALRRALMGSPQLVA 3.0 3.0 - - 3713_17:39925404-39925404 G>A_AMIVNQLSKKEALRRALMGSPQLVA 0.0 12:57457893-57457893 A>C 0.0 4081 COLORECTAL - - - - TMEM194A ENST00000379391,p.L166V|NM_001130963,p.L239V|NM_015257,p.L166V|ENST00000300128,p.L239V|uc001smy.3,p.L239V|uc001smx.3,p.L166V protein_coding, processed_transcript, nonsense_mediated_decay uc001smy.3 nonsynonymous SNV exon6 c.T715G p.L239V FSLYLIQLVFKNLQEIWRCYWQYLL FSLYLIQLVFKNVQEIWRCYWQYLL 4.0 6.0 - - 4081_12:57457893-57457893 A>C_FSLYLIQLVFKNVQEIWRCYWQYLL 0.0 8:73480273-73480273 T>G 0.0 4078 GASTRIC - - - - KCNB2 ENST00000523207,p.F102V|uc003xzb.3,p.F102V|NM_004770,p.F102V protein_coding uc003xzb.3 nonsynonymous SNV exon2 c.T304G p.F102V DRHPGAFTSILNFYRTGKLHMMEEM DRHPGAFTSILNVYRTGKLHMMEEM 1.0 3.0 - - 4078_8:73480273-73480273 T>G_DRHPGAFTSILNVYRTGKLHMMEEM 0.0 2:160706647-160706647 A>- 0.0 4345 COLORECTAL - - - - LY75,LY75-CD302 ENST00000553424,p.F998fs|NM_002349,p.F998fs|ENST00000554112,p.F998fs|ENST00000504764,p.F998fs|NM_001198759,p.F998fs|uc010fos.3,p.F998fs|NM_001198760,p.F998fs|uc002ubc.4,p.F998fs|ENST00000263636,p.F998fs|ENST00000505052,p.F998fs|uc002ubb.4,p.F998fs retained_intron, protein_coding, processed_transcript uc010fos.3 frameshift deletion exon23 c.2994delT p.F998fs TLPSVLSQIEQDFITSLLPDMEATLW TLPSVLSQIEQDLLHPCFRIWKLLYGLVCAGLPMKR 7.0 6.0 - - 4345_2:160706647-160706647 A>-_TLPSVLSQIEQDLLHPCFRIWKLLYGLVCAGLPMKR 0.0 2:138033596-138033596 G>T 0.0 4245 COLORECTAL - - - - THSD7B ENST00000272643,p.A834S|ENST00000409968,p.A834S|uc002tvb.3,p.A693S|uc002tva.1,p.A803S|ENST00000413152,p.A803S retained_intron, protein_coding, processed_transcript uc002tvb.3 nonsynonymous SNV exon10 c.G2077T p.A693S SSEACGKGLQTRAVSCISDDNRSAE SSEACGKGLQTRSVSCISDDNRSAE 3.0 9.0 - - 4245_2:138033596-138033596 G>T_SSEACGKGLQTRSVSCISDDNRSAE 0.0 17:3651273-3651273 C>T 0.0 4259 COLORECTAL - - ID=COSM2154321;OCCURENCE=2(central_nervous_system) - ITGAE ENST00000263087,p.V700I|uc002fwo.4,p.V700I|NM_002208,p.V700I retained_intron, protein_coding, processed_transcript uc002fwo.4 nonsynonymous SNV exon17 c.G2098A p.V700I FTPSALPIGFNGVVNVRLCFEISSV FTPSALPIGFNGIVNVRLCFEISSV 9.0 5.0 - - 4259_17:3651273-3651273 C>T_FTPSALPIGFNGIVNVRLCFEISSV 0.0 1:10725553-10725553 A>G 1.0 4037 NSCLC - - - - CASZ1 ENST00000344008,p.L31P|uc001arp.2,p.L31P|uc001aro.4,p.L31P|ENST00000377022,p.L31P|NM_017766,p.L31P|NM_001079843,p.L31P|uc009vmx.2,p.L55P retained_intron, protein_coding, processed_transcript uc009vmx.2 nonsynonymous SNV exon3 c.T164C p.L55P PAMAPKRKGGLKLNAICAKLSRQVV PAMAPKRKGGLKPNAICAKLSRQVV 7.0 10.0 - - 4037_1:10725553-10725553 A>G_PAMAPKRKGGLKPNAICAKLSRQVV 0.0 12:6701638-6701638 G>A 1.0 4266 COLORECTAL - - ID=COSM942732;OCCURENCE=2(endometrium) 1 CHD4 uc001qpn.3,p.R950W|ENST00000544484,p.R954W|uc001qpp.3,p.R954W|NM_001273,p.R957W|NM_001297553,p.R950W|ENST00000544040,p.R950W|ENST00000309577,p.R957W|uc001qpo.3,p.R957W|ENST00000357008,p.R957W retained_intron, protein_coding, processed_transcript uc001qpp.3 nonsynonymous SNV exon19 c.C2860T p.R954W KLHDMLGPHMLRRLKADVFKNMPSK KLHDMLGPHMLRWLKADVFKNMPSK 10.0 10.0 - - 4266_12:6701638-6701638 G>A_KLHDMLGPHMLRWLKADVFKNMPSK 0.0 X:55514129-55514129 A>C 1.0 4177 PANCREATIC - - - - USP51 ENST00000500968,p.F415C|uc022bxu.1,p.F415C|NM_201286,p.F415C|uc004dun.2,p.F415C protein_coding, processed_transcript uc022bxu.1 nonsynonymous SNV exon1 c.T1244G p.F415C PSLCLVCEMSSLFHAMYSGSRTPHI PSLCLVCEMSSLCHAMYSGSRTPHI 5.0 10.0 - - 4177_X:55514129-55514129 A>C_PSLCLVCEMSSLCHAMYSGSRTPHI 0.0 21:15558374-15558374 A>G 0.0 3795 MELANOMA - - - - LIPI uc021whh.1,p.L150P|uc002yjm.3,p.L171P|ENST00000536861,p.L150P|uc021whe.1,p.L150P|ENST00000344577,p.L171P|uc021whj.1,p.L150P|uc010gkw.2,p.L150P|uc021whf.1,p.L150P|NM_198996,p.L171P protein_coding uc021whj.1 nonsynonymous SNV exon3 c.T449C p.L150P VHIKNLLKHGASLDNFHFIGVSLGA VHIKNLLKHGASPDNFHFIGVSLGA 1.0 2.0 - - 3795_21:15558374-15558374 A>G_VHIKNLLKHGASPDNFHFIGVSLGA 0.0 3:171944703-171944703 C>T 1.0 3713 MELANOMA - - - - FNDC3B ENST00000443501,p.P50L|uc003fhz.4,p.P77L|ENST00000416957,p.P77L|ENST00000336824,p.P77L|ENST00000415807,p.P77L|NM_001135095,p.P77L|NM_022763,p.P77L|uc003fhy.3,p.P77L retained_intron, protein_coding, processed_transcript uc003fhz.4 nonsynonymous SNV exon4 c.C230T p.P77L AEVPMMSPNGSIPPIHVPPGYISQV AEVPMMSPNGSILPIHVPPGYISQV 7.0 7.0 - - 3713_3:171944703-171944703 C>T_AEVPMMSPNGSILPIHVPPGYISQV 0.0 20:51871408-51871408 G>A 0.0 3998 MELANOMA - - - - TSHZ2 uc002xwo.3,p.E471K|ENST00000603338,p.E468K|NM_001193421,p.E468K|NM_173485,p.E471K|ENST00000329613,p.E468K|ENST00000371497,p.E471K|uc021wex.1,p.E468K protein_coding, processed_transcript uc021wex.1 nonsynonymous SNV exon2 c.G1402A p.E468K ELKKESKKERPEETSKDEKVVKSED ELKKESKKERPEKTSKDEKVVKSED 4.0 10.0 - - 3998_20:51871408-51871408 G>A_ELKKESKKERPEKTSKDEKVVKSED 0.0 1:158590227-158590227 A>C 0.0 4213 COLORECTAL - - - - SPTA1 uc001fst.1,p.H2050Q|ENST00000368148,p.H2050Q|NM_003126,p.H2050Q|ENST00000368147,p.H2047Q protein_coding, processed_transcript uc001fst.1 nonsynonymous SNV exon44 c.T6150G p.H2050Q LQKAEDLFVEFAHKASALNNWCEKM LQKAEDLFVEFAQKASALNNWCEKM 3.0 6.0 - - 4213_1:158590227-158590227 A>C_LQKAEDLFVEFAQKASALNNWCEKM 0.0 1:248224587-248224587 A>G 0.0 4326 BREAST - - - - OR2L3 ENST00000359959,p.T202A|uc001idx.1,p.T202A|NM_001004687,p.T202A protein_coding uc001idx.1 nonsynonymous SNV exon1 c.A604G p.T202A DTWVYEGTVFLSTTIFLVFPFIAIS DTWVYEGTVFLSATIFLVFPFIAIS 3.0 7.0 - - 4326_1:248224587-248224587 A>G_DTWVYEGTVFLSATIFLVFPFIAIS 0.0 13:39265034-39265034 C>T 1.0 3903 MELANOMA - - - - FREM2 NM_207361,p.P1185S|ENST00000280481,p.P1185S|uc001uwv.3,p.P1185S protein_coding, processed_transcript uc001uwv.3 nonsynonymous SNV exon1 c.C3553T p.P1185S FSERQFFPIVIIPTNDEQPEMFMRE FSERQFFPIVIISTNDEQPEMFMRE 5.0 7.0 - - 3903_13:39265034-39265034 C>T_FSERQFFPIVIISTNDEQPEMFMRE 0.0 12:96350478-96350478 T>A 0.0 4160 COLORECTAL - - - - AMDHD1 uc001tel.2,p.Y109N|NM_152435,p.Y109N|ENST00000266736,p.Y109N retained_intron, protein_coding, nonsense_mediated_decay uc001tel.2 nonsynonymous SNV exon4 c.T325A p.Y109N VHEFAMKLAGATYMEIHQAGGGIHF VHEFAMKLAGATNMEIHQAGGGIHF 2.0 5.0 - - 4160_12:96350478-96350478 T>A_VHEFAMKLAGATNMEIHQAGGGIHF 0.0 13:39262582-39262600 GGGCTACTTGGTGAGCACC>- 0.0 4081 COLORECTAL - - - - FREM2 NM_207361,p.Q367fs|ENST00000280481,p.Q367fs|uc001uwv.3,p.Q367fs protein_coding, processed_transcript uc001uwv.3 frameshift deletion exon1 c.1101_1119del p.Q367fs LIFNLTSPFQPGQGYLVSTDDRSLP LIFNLTSPFQPGQMIAACPFPPSLRGICGS 4.0 5.0 - - 4081_13:39262582-39262600 GGGCTACTTGGTGAGCACC>-_LIFNLTSPFQPGQMIAACPFPPSLRGICGS 0.0 7:120610770-120610770 T>A 1.0 4078 GASTRIC - - - - ING3 NM_019071,p.S313T|uc003vjp.3,p.S313T|uc011kns.2,p.S298T|ENST00000315870,p.S313T|uc003vjn.3,p.S313T|ENST00000431467,p.S298T|uc003vjo.3,p.S87T retained_intron, protein_coding, nonsense_mediated_decay uc011kns.2 nonsynonymous SNV exon9 c.T892A p.S298T KSKNNNKSSSQQSSSSSSSSSLSSC KSKNNNKSSSQQTSSSSSSSSLSSC 7.0 7.0 - - 4078_7:120610770-120610770 T>A_KSKNNNKSSSQQTSSSSSSSSLSSC 0.0 3:111637937-111637937 G>A 1.0 3713 MELANOMA - - - - PHLDB2 uc010hqa.3,p.E580K|uc003dyi.3,p.E166K|NM_145753,p.E580K|ENST00000412622,p.E580K|ENST00000393925,p.E580K|uc003dyh.3,p.E580K|NM_001134438,p.E580K|uc003dyg.3,p.E580K|NM_001134437,p.E607K|ENST00000495180,p.E166K|ENST00000481953,p.E580K|ENST00000431670,p.E580K|NM_001134439,p.E580K|ENST00000498699,p.E580K|uc003dyc.3,p.E607K|ENST00000393923,p.E607K|uc003dyd.3,p.E580K retained_intron, protein_coding, processed_transcript uc010hqa.3 nonsynonymous SNV exon4 c.G1738A p.E580K LSILPKTPEGISEEQRSQELAAMEE LSILPKTPEGISKEQRSQELAAMEE 2.0 10.0 - - 3713_3:111637937-111637937 G>A_LSILPKTPEGISKEQRSQELAAMEE 0.0 12:116435017-116435017 C>T 1.0 4301 MELANOMA - - - - MED13L ENST00000281928,p.R863K|uc001tvw.3,p.R863K|NM_015335,p.R863K retained_intron, protein_coding, processed_transcript uc001tvw.3 nonsynonymous SNV exon15 c.G2588A p.R863K AVPYPPTVADLQRMFPTPPSLEQHP AVPYPPTVADLQKMFPTPPSLEQHP 8.0 1.0 - - 4301_12:116435017-116435017 C>T_AVPYPPTVADLQKMFPTPPSLEQHP 0.0 1:179631299-179631299 G>A 0.0 4301 MELANOMA - - - - TDRD5 ENST00000444136,p.D795N|NM_001199085,p.D795N|uc001gnf.2,p.D741N|NM_001199089,p.D795N|ENST00000417329,p.D251N|uc001gnh.2,p.D296N|uc010pnp.2,p.D795N|uc021pfn.1,p.D795N|NM_001199091,p.D741N|ENST00000294848,p.D741N|NM_173533,p.D741N|uc021pfm.1,p.D741N|NM_001199092,p.D296N|ENST00000367614,p.D741N protein_coding uc021pfn.1 nonsynonymous SNV exon15 c.G2383A p.D795N CLESVTIGDDIWDENWLPLQAKMGK CLESVTIGDDIWNENWLPLQAKMGK 2.0 9.0 - - 4301_1:179631299-179631299 G>A_CLESVTIGDDIWNENWLPLQAKMGK 0.0 1:41474527-41474527 T>G 1.0 4180 BREAST - - - - CTPS1 NM_001301237,p.V348G|NM_001905,p.V504G|uc010ojo.2,p.V273G|ENST00000372621,p.V504G|uc001cgl.4,p.V504G|ENST00000372616,p.V504G|uc010ojq.2,p.V348G|ENST00000541520,p.V273G|uc001cgk.4,p.V504G protein_coding, processed_transcript uc010ojq.2 nonsynonymous SNV exon12 c.T1043G p.V348G LEEQGLKFVGQDVEGERMEIVELED LEEQGLKFVGQDGEGERMEIVELED 9.0 6.0 - - 4180_1:41474527-41474527 T>G_LEEQGLKFVGQDGEGERMEIVELED 0.0 X:20156734-20156734 C>T 1.0 4155 MELANOMA - - - 2 EIF1AX uc004czt.3,p.G8E|ENST00000379607,p.G8E|NM_001412,p.G8E protein_coding uc004czt.3 nonsynonymous SNV exon2 c.G23A p.G8E MPKNKGKGGKNRRRGKNENE MPKNKGKEGKNRRRGKNENE 8.0 10.0 - - 4155_X:20156734-20156734 C>T_MPKNKGKEGKNRRRGKNENE 0.0 15:90611774-90611774 G>A 1.0 4177 PANCREATIC - - - - ZNF710 uc002bov.2,p.G469S|ENST00000558883,p.G177S|NM_198526,p.G469S|ENST00000268154,p.G469S protein_coding, processed_transcript uc002bov.2 nonsynonymous SNV exon2 c.G1405A p.G469S HQNVRPFVCTECGMEFSQIHHLKQH HQNVRPFVCTECSMEFSQIHHLKQH 8.0 8.0 - - 4177_15:90611774-90611774 G>A_HQNVRPFVCTECSMEFSQIHHLKQH 0.0 3:169569563-169569563 G>A 0.0 4235 COLORECTAL - - - - LRRC31 ENST00000264676,p.P279S|uc010hwp.2,p.P279S|NM_001277127,p.P335S|uc031scf.1,p.P335S|NM_001277128,p.P279S|uc003fgc.2,p.P335S|ENST00000316428,p.P335S|ENST00000523069,p.P335S|NM_024727,p.P335S protein_coding, processed_transcript uc031scf.1 nonsynonymous SNV exon7 c.C1003T p.P335S TADDVMSLTQVIPLLSNLQELDLSA TADDVMSLTQVISLLSNLQELDLSA 5.0 2.0 - - 4235_3:169569563-169569563 G>A_TADDVMSLTQVISLLSNLQELDLSA 0.0 9:95768392-95768392 G>A 1.0 3903 MELANOMA - - - - FGD3 NM_033086,p.R256Q|ENST00000416701,p.R256Q|NM_001083536,p.R256Q|uc004asz.2,p.R256Q|ENST00000467786,p.R256Q|ENST00000337352,p.R256Q|uc004asw.2,p.R256Q|uc004asx.2,p.R256Q|ENST00000375482,p.R256Q|NM_001286993,p.R256Q|uc004ata.3,p.R59Q protein_coding, processed_transcript, nonsense_mediated_decay uc004ata.3 nonsynonymous SNV exon3 c.G176A p.R59Q LKMYGEYVKNFDRAVGLVSTWTQRS LKMYGEYVKNFDQAVGLVSTWTQRS 6.0 10.0 - - 3903_9:95768392-95768392 G>A_LKMYGEYVKNFDQAVGLVSTWTQRS 0.0 12:46756405-46756405 G>C 0.0 4335 COLORECTAL - - - - SLC38A2 uc001rpg.3,p.T399S|uc010sli.2,p.T237S|uc001rph.3,p.T299S|ENST00000256689,p.T399S|NM_018976,p.T399S|ENST00000551374,p.T237S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010sli.2 nonsynonymous SNV exon7 c.C710G p.T237S VPVVIFPIRSSVTHLLCASKDFSWW VPVVIFPIRSSVSHLLCASKDFSWW 9.0 2.0 - - 4335_12:46756405-46756405 G>C_VPVVIFPIRSSVSHLLCASKDFSWW 0.0 5:41929840-41929840 C>T 1.0 3713 MELANOMA - - ID=COSM4141824,COSM4141823;OCCURENCE=1(ovary) - FBXO4 NM_001297437,p.S156F|ENST00000296812,p.S156F|ENST00000509134,p.S156F|NM_033484,p.S156F|ENST00000281623,p.S156F|NM_012176,p.S156F|uc003jmp.3,p.S156F|uc003jmq.3,p.S156F retained_intron, protein_coding, nonsense_mediated_decay uc003jmq.3 nonsynonymous SNV exon3 c.C467T p.S156F RMCCPYTRRASKSSRPMYGAVTSFL RMCCPYTRRASKFSRPMYGAVTSFL 3.0 6.0 - - 3713_5:41929840-41929840 C>T_RMCCPYTRRASKFSRPMYGAVTSFL 0.0 17:8243591-8243591 C>G 0.0 4110 BILE DUCT - - - - ODF4 ENST00000328248,p.H74Q|uc002gle.1,p.H74Q|NM_153007,p.H74Q protein_coding uc002gle.1 nonsynonymous SNV exon1 c.C222G p.H74Q QNSPLPFQWRITHSFRWMAQVLASE QNSPLPFQWRITQSFRWMAQVLASE 1.0 9.0 - - 4110_17:8243591-8243591 C>G_QNSPLPFQWRITQSFRWMAQVLASE 0.0 7:65554102-65554102 G>C 1.0 4335 COLORECTAL - - - - ASL ENST00000395332,p.Q286H|uc003tur.3,p.Q260H|ENST00000380839,p.Q260H|uc003tuq.3,p.Q286H|ENST00000395331,p.Q286H|ENST00000362000,p.Q221H|ENST00000304874,p.Q286H|uc003tuo.3,p.Q286H|NM_001024943,p.Q286H|NM_001024946,p.Q260H|NM_000048,p.Q286H|uc003tup.3,p.Q286H|NM_001024944,p.Q286H retained_intron, processed_transcript, protein_coding uc003tur.3 nonsynonymous SNV exon10 c.G780C p.Q260H SDAYSTGSSLMPQKKNPDSLELIRS SDAYSTGSSLMPHKKNPDSLELIRS 10.0 7.0 - - 4335_7:65554102-65554102 G>C_SDAYSTGSSLMPHKKNPDSLELIRS 0.0 3:146179626-146179626 G>A 0.0 4301 MELANOMA - - - - PLSCR2 NM_001199978,p.S12F|ENST00000497985,p.S12F|uc021xfa.1,p.S12F protein_coding, processed_transcript, nonsense_mediated_decay uc021xfa.1 nonsynonymous SNV exon3 c.C35T p.S12F MRSWNSLFCLNSSRPPGHIVYPKH MRSWNSLFCLNFSRPPGHIVYPKH 3.0 6.0 - - 4301_3:146179626-146179626 G>A_MRSWNSLFCLNFSRPPGHIVYPKH 0.0 17:43311031-43311031 C>T 1.0 3466 MELANOMA - - - - FMNL1 ENST00000331495,p.L140F|ENST00000328118,p.L140F|uc002iin.3,p.L140F|uc002iip.1,p.L134F|NM_005892,p.L140F|uc002iio.3,p.L85F retained_intron, protein_coding, processed_transcript uc002iip.1 nonsynonymous SNV exon2 c.C400T p.L134F LRTNHIGWVQEFLNEENRGLDVLLE LRTNHIGWVQEFFNEENRGLDVLLE 8.0 9.0 - - 3466_17:43311031-43311031 C>T_LRTNHIGWVQEFFNEENRGLDVLLE 0.0 17:10363406-10363406 C>T 0.0 4196 COLORECTAL - - - - MYH4 uc002gmn.3,p.V427M|ENST00000255381,p.V427M|NM_017533,p.V427M protein_coding uc002gmn.3 nonsynonymous SNV exon14 c.G1279A p.V427M TKGQTVQQVYNAVGALAKAIYEKMF TKGQTVQQVYNAMGALAKAIYEKMF 5.0 9.0 - - 4196_17:10363406-10363406 C>T_TKGQTVQQVYNAMGALAKAIYEKMF 0.0 5:79355696-79355696 G>A 0.0 2359 MELANOMA - - - - THBS4 NM_003248,p.G319R|uc021yaw.1,p.G319R|ENST00000511733,p.G228R|ENST00000350881,p.G319R protein_coding, processed_transcript uc021yaw.1 nonsynonymous SNV exon7 c.G955A p.G319R GFQCGPCPEGYTGNGITCIDVDECK GFQCGPCPEGYTRNGITCIDVDECK 4.0 9.0 - - 2359_5:79355696-79355696 G>A_GFQCGPCPEGYTRNGITCIDVDECK 0.0 20:3102383-3102383 C>T 1.0 4240 BREAST - - ID=COSM1240598;OCCURENCE=1(oesophagus) - UBOX5 NM_014948,p.R301Q|uc002why.2,p.R301Q|uc002whx.4,p.R301Q|uc002whw.4,p.R301Q|NM_199415,p.R301Q|ENST00000348031,p.R301Q|NM_001267584,p.R301Q|ENST00000217173,p.R301Q protein_coding uc002why.2 nonsynonymous SNV exon3 c.G902A p.R301Q LEKCNRSEATWGRVPSDPFTGVAFT LEKCNRSEATWGQVPSDPFTGVAFT 7.0 7.0 - - 4240_20:3102383-3102383 C>T_LEKCNRSEATWGQVPSDPFTGVAFT 0.0 1:17735596-17735596 C>T 1.0 4246 COLORECTAL - - - - RCC2 ENST00000375433,p.R520Q|ENST00000375436,p.R520Q|uc001bam.3,p.R520Q|uc001bal.3,p.R520Q|NM_001136204,p.R520Q|NM_018715,p.R520Q protein_coding, processed_transcript uc001bam.3 nonsynonymous SNV exon13 c.G1559A p.R520Q KEKIKKLPEYNPRTL KEKIKKLPEYNPQTL 9.0 7.0 - - 4246_1:17735596-17735596 C>T_KEKIKKLPEYNPQTL 0.0 8:54896990-54896990 G>- 0.0 4258 ENDOMETRIAL - - - 1 TCEA1 uc003xru.3,p.P204fs|NM_201437,p.P183fs|ENST00000396401,p.P183fs|ENST00000521604,p.P204fs|NM_006756,p.P204fs|uc003xrv.3,p.P183fs protein_coding, processed_transcript, nonsense_mediated_decay uc003xrv.3 frameshift deletion exon6 c.548delC p.P183fs RSRISNLKDAKNPNLRKNVLCGNIP RSRISNLKDAKNQI 8.0 7.0 - - 4258_8:54896990-54896990 G>-_RSRISNLKDAKNQI 0.0 3:182933812-182933812 T>A 0.0 4298 COLORECTAL - - - - MCF2L2 NM_015078,p.D814V|ENST00000473233,p.D814V|uc003fli.1,p.D814V|ENST00000328913,p.D814V retained_intron, protein_coding, processed_transcript uc003fli.1 nonsynonymous SNV exon22 c.A2441T p.D814V STELQQALAVIEDLIKSCELAVDLA STELQQALAVIEVLIKSCELAVDLA 5.0 2.0 - - 4298_3:182933812-182933812 T>A_STELQQALAVIEVLIKSCELAVDLA 0.0 11:67810301-67810301 G>A 1.0 4284 COLORECTAL - - - - TCIRG1 ENST00000265686,p.A130T|uc001onf.1,p.A130T|ENST00000524598,p.A116T|uc001one.3,p.A130T|ENST00000534673,p.A130T|NM_006019,p.A130T|ENST00000529657,p.A130T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001onf.1 nonsynonymous SNV exon4 c.G388A p.A130T LRAQLHQLQLHAAVLRQGHEPQLAA LRAQLHQLQLHATVLRQGHEPQLAA 9.0 5.0 - - 4284_11:67810301-67810301 G>A_LRAQLHQLQLHATVLRQGHEPQLAA 0.0 3:100617690-100617690 G>A 1.0 2556 MELANOMA - - - - ABI3BP ENST00000530539,p.T73I|uc003dup.4,p.T126I|ENST00000284322,p.T133I|NM_015429,p.T133I|uc003dun.3,p.T133I|uc003duo.2,p.T126I|ENST00000495063,p.T133I|ENST00000527258,p.T52I|ENST00000471714,p.T133I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003dup.4 nonsynonymous SNV exon4 c.C377T p.T126I SRKPLQLVVGTLTPSSVFLSWGFLI SRKPLQLVVGTLIPSSVFLSWGFLI 5.0 6.0 - - 2556_3:100617690-100617690 G>A_SRKPLQLVVGTLIPSSVFLSWGFLI 0.0 4:20598173-20598173 G>T 0.0 4129 NSCLC - - - - SLIT2 ENST00000504154,p.Q1152H|uc003gpr.1,p.Q1152H|ENST00000503823,p.Q1144H|NM_001289135,p.Q1148H|NM_004787,p.Q1152H|uc003gps.1,p.Q1144H|ENST00000273739,p.Q1165H|ENST00000503837,p.Q1148H|NM_001289136,p.Q1144H retained_intron, protein_coding, processed_transcript uc003gps.1 nonsynonymous SNV exon31 c.G3432T p.Q1144H INEPICQCLPGYQGEKCEKLVSVNF INEPICQCLPGYHGEKCEKLVSVNF 4.0 9.0 - - 4129_4:20598173-20598173 G>T_INEPICQCLPGYHGEKCEKLVSVNF 0.0 4:8233804-8233804 T>C 0.0 3775 CERVICAL - - - - SH3TC1 ENST00000539824,p.C942R|uc003gkw.4,p.C942R|uc003gkv.4,p.C1018R|ENST00000245105,p.C1018R|NM_018986,p.C1018R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003gkw.4 nonsynonymous SNV exon13 c.T2824C p.C942R CVIYHELQLSLACKVADKVLEGQLL CVIYHELQLSLARKVADKVLEGQLL 7.0 5.0 - - 3775_4:8233804-8233804 T>C_CVIYHELQLSLARKVADKVLEGQLL 0.0 9:77377070-77377070 G>A 0.0 3795 MELANOMA - - - - TRPM6 ENST00000449912,p.S1501L|ENST00000376864,p.S1506L|NM_017662,p.S1506L|ENST00000360774,p.S1506L|uc022bib.1,p.S1501L|uc004ajl.1,p.S1506L|ENST00000451710,p.S1506L|uc004ajk.1,p.S1501L|NM_001177311,p.S1501L|NM_001177310,p.S1501L|uc004ajj.1,p.S462L|ENST00000361255,p.S1501L protein_coding, processed_transcript uc022bib.1 nonsynonymous SNV exon26 c.C4502T p.S1501L AQDSSLSDNSTRSAQSSECSEVGPW AQDSSLSDNSTRLAQSSECSEVGPW 2.0 10.0 - - 3795_9:77377070-77377070 G>A_AQDSSLSDNSTRLAQSSECSEVGPW 0.0 12:56998406-56998406 G>A 1.0 3713 MELANOMA - - - - BAZ2A NM_013449,p.L978F|ENST00000379441,p.L948F|uc001slp.1,p.L976F|NM_001300905,p.L976F|uc001slq.1,p.L978F|uc009zow.1,p.L946F|ENST00000549884,p.L976F|ENST00000179765,p.L946F|ENST00000551812,p.L978F retained_intron, protein_coding, processed_transcript uc009zow.1 nonsynonymous SNV exon15 c.C2836T p.L946F QPPQQKAAVLAFLVHELNGSTLIIN QPPQQKAAVLAFFVHELNGSTLIIN 9.0 5.0 - - 3713_12:56998406-56998406 G>A_QPPQQKAAVLAFFVHELNGSTLIIN 0.0 14:76905784-76905784 C>T 0.0 4301 MELANOMA - - - - ESRRB ENST00000505752,p.L30F|uc001xsr.3,p.L30F|ENST00000509242,p.L30F|ENST00000380887,p.L30F|ENST00000512784,p.L35F|uc001xsq.1,p.L30F|NM_004452,p.L30F|ENST00000261532,p.L30F|ENST00000556177,p.L30F protein_coding, processed_transcript, nonsense_mediated_decay uc001xsr.3 nonsynonymous SNV exon4 c.C88T p.L30F TEPSSPSSGIDALSHHSPSGSSDAS TEPSSPSSGIDAFSHHSPSGSSDAS 2.0 7.0 - - 4301_14:76905784-76905784 C>T_TEPSSPSSGIDAFSHHSPSGSSDAS 0.0 5:178506626-178506626 C>T 0.0 2359 MELANOMA - - - - ZNF354C NM_014594,p.T398I|uc003mju.3,p.T398I|ENST00000315475,p.T398I protein_coding uc003mju.3 nonsynonymous SNV exon5 c.C1193T p.T398I CLECGRTFTRIVTLIEHQRIHTGQK CLECGRTFTRIVILIEHQRIHTGQK 4.0 9.0 - - 2359_5:178506626-178506626 C>T_CLECGRTFTRIVILIEHQRIHTGQK 0.0 1:248224768-248224768 G>T 0.0 4259 COLORECTAL - - - - OR2L3 NM_001004687,p.R262I|ENST00000359959,p.R262I|uc001idx.1,p.R262I protein_coding uc001idx.1 nonsynonymous SNV exon1 c.G785T p.R262I YYAPFVYTYLRPRSLRSPTEDKVLA YYAPFVYTYLRPISLRSPTEDKVLA 1.0 8.0 - - 4259_1:248224768-248224768 G>T_YYAPFVYTYLRPISLRSPTEDKVLA 0.0 2:118582657-118582657 T>A 1.0 4234 NSCLC - - - - DDX18 ENST00000415038,p.L114M|ENST00000263239,p.L450M|NM_006773,p.L450M|uc002tlh.1,p.L450M retained_intron, protein_coding, processed_transcript uc002tlh.1 nonsynonymous SNV exon9 c.T1348A p.L450M VKYHYELLNYIDLPVLAIHGKQKQN VKYHYELLNYIDMPVLAIHGKQKQN 9.0 5.0 - - 4234_2:118582657-118582657 T>A_VKYHYELLNYIDMPVLAIHGKQKQN 0.0 19:32083709-32083709 G>A 0.0 4301 MELANOMA - - - - THEG5 ENST00000607852,p.G71R|NM_001278575,p.G63R|NM_001278577,p.G63R|NM_001278576,p.G63R|NM_001278578,p.G63R|uc021urz.1,p.G71R|NM_001205273,p.G71R - uc021urz.1 nonsynonymous SNV exon2 c.G211A p.G71R GCGSDGSTAVHPGGWTCVPGYQSLR GCGSDGSTAVHPRGWTCVPGYQSLR 1.0 4.0 - - 4301_19:32083709-32083709 G>A_GCGSDGSTAVHPRGWTCVPGYQSLR 0.0 5:140502130-140502130 C>T 1.0 2556 MELANOMA - - - - PCDHB4 uc003lip.1,p.H184Y|ENST00000194152,p.H184Y|NM_018938,p.H184Y protein_coding uc003lip.1 nonsynonymous SNV exon1 c.C550T p.H184Y SPNSHFHILTRNHSEGKKYPDLVQD SPNSHFHILTRNYSEGKKYPDLVQD 4.0 8.0 - - 2556_5:140502130-140502130 C>T_SPNSHFHILTRNYSEGKKYPDLVQD 0.0 X:78618468-78618468 G>A 0.0 2556 MELANOMA - - - - ITM2A uc011mqr.2,p.P94S|NM_004867,p.P138S|ENST00000373298,p.P138S|ENST00000434584,p.P94S|uc004edh.3,p.P138S|NM_001171581,p.P94S protein_coding, processed_transcript uc011mqr.2 nonsynonymous SNV exon2 c.C280T p.P94S IDVPVPSFSDSDPAAIIHDFEKGMT IDVPVPSFSDSDSAAIIHDFEKGMT 4.0 3.0 - - 2556_X:78618468-78618468 G>A_IDVPVPSFSDSDSAAIIHDFEKGMT 0.0 5:158601106-158601106 G>A 1.0 3784 MELANOMA - - - - RNF145 NM_144726,p.P256S|uc003lxp.3,p.P228S|uc010jiq.2,p.P258S|ENST00000519865,p.P228S|ENST00000424310,p.P228S|uc011dea.2,p.P244S|ENST00000518802,p.P258S|ENST00000520638,p.P242S|NM_001199381,p.P245S|NM_001199383,p.P228S|ENST00000521606,p.P245S|NM_001199380,p.P258S|uc003lxo.2,p.P256S|ENST00000274542,p.P256S|NM_001199382,p.P242S|uc011ddz.2,p.P245S|uc011ddy.2,p.P242S retained_intron, protein_coding, processed_transcript uc011dea.2 nonsynonymous SNV exon6 c.C730T p.P244S ALGMSLWNQLVVPVLFMVFWLVLFA ALGMSLWNQLVVSVLFMVFWLVLFA 9.0 5.0 - - 3784_5:158601106-158601106 G>A_ALGMSLWNQLVVSVLFMVFWLVLFA 0.0 3:17053148-17053148 A>T 0.0 4259 COLORECTAL - - - - PLCL2 ENST00000418129,p.K644N|uc011awd.2,p.K644N|NM_015184,p.K644N|ENST00000396755,p.K644N|ENST00000432376,p.K644N protein_coding, processed_transcript uc011awd.2 nonsynonymous SNV exon2 c.A1932T p.K644N IKIISGQNFPKPKGSGAKGDVVDPY IKIISGQNFPKPNGSGAKGDVVDPY 6.0 8.0 - - 4259_3:17053148-17053148 A>T_IKIISGQNFPKPNGSGAKGDVVDPY 0.0 7:128498064-128498064 C>T 1.0 3784 MELANOMA - - - - FLNC uc003voa.4,p.P2562S|uc003vnz.4,p.P2595S|NM_001127487,p.P2562S|ENST00000346177,p.P2562S|NM_001458,p.P2595S|ENST00000325888,p.P2595S retained_intron, protein_coding uc003voa.4 nonsynonymous SNV exon46 c.C7684T p.P2562S IVGSPFKAKVTGPRLSGGHSLHETS IVGSPFKAKVTGSRLSGGHSLHETS 5.0 9.0 - - 3784_7:128498064-128498064 C>T_IVGSPFKAKVTGSRLSGGHSLHETS 0.0 11:120984328-120984328 G>A 0.0 4081 COLORECTAL - - - - TECTA uc010rzo.2,p.V231M|ENST00000392793,p.V231M|ENST00000264037,p.V231M|NM_005422,p.V231M protein_coding, processed_transcript uc010rzo.2 nonsynonymous SNV exon5 c.G691A p.V231M FFSLPGSRTPEIVNIQETTNVNVPG FFSLPGSRTPEIMNIQETTNVNVPG 2.0 4.0 - - 4081_11:120984328-120984328 G>A_FFSLPGSRTPEIMNIQETTNVNVPG 0.0 11:119050543-119050543 G>A 0.0 4240 BREAST - - - - NLRX1 NM_001282143,p.E605K|uc001pvu.3,p.E605K|uc001pvx.3,p.E605K|NM_001282144,p.E605K|ENST00000525863,p.E605K|NM_024618,p.E605K|ENST00000409265,p.E605K|ENST00000292199,p.E605K|uc001pvv.3,p.E605K|uc001pvw.3,p.E605K|ENST00000409109,p.E605K|ENST00000409991,p.E605K|NM_001282358,p.E605K|uc010rzc.1,p.E427K retained_intron, protein_coding, processed_transcript uc010rzc.1 nonsynonymous SNV exon6 c.G1279A p.E427K VLDQMGASILGVEGPRRHPDEPPED VLDQMGASILGVKGPRRHPDEPPED 5.0 10.0 - - 4240_11:119050543-119050543 G>A_VLDQMGASILGVKGPRRHPDEPPED 0.0 3:105268974-105268974 G>A 0.0 2369 MELANOMA - - - - ALCAM uc010hpp.3,p.E182K|ENST00000389927,p.E182K|ENST00000472644,p.E460K|NM_001243280,p.E460K|uc003dvz.3,p.E94K|uc003dvw.2,p.E460K|NM_001243281,p.E460K|ENST00000486979,p.E409K|ENST00000306107,p.E460K|uc003dvx.3,p.E460K|uc003dvy.3,p.E460K|NM_001627,p.E460K retained_intron, protein_coding, processed_transcript uc010hpp.3 nonsynonymous SNV exon6 c.G544A p.E182K TITGSGSVINQTEESPYINGRYYSK TITGSGSVINQTKESPYINGRYYSK 8.0 7.0 - - 2369_3:105268974-105268974 G>A_TITGSGSVINQTKESPYINGRYYSK 0.0 2:61528289-61528289 A>C 1.0 4213 COLORECTAL - - - - USP34 ENST00000398571,p.F1309V|uc002sbe.3,p.F1309V|NM_014709,p.F1309V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002sbe.3 nonsynonymous SNV exon29 c.T3925G p.F1309V LHELGFKDMQMVFVSLGAPRRERKG LHELGFKDMQMVVVSLGAPRRERKG 9.0 6.0 - - 4213_2:61528289-61528289 A>C_LHELGFKDMQMVVVSLGAPRRERKG 0.0 8:65493597-65493597 G>T 0.0 4149 OVARIAN - - - - BHLHE22 NM_152414,p.G84C|uc003xvi.3,p.G84C|ENST00000321870,p.G84C protein_coding uc003xvi.3 nonsynonymous SNV exon1 c.G250T p.G84C GAGLLLPPPGGGGGGSAGSGGGGGG GAGLLLPPPGGGCGGSAGSGGGGGG 3.0 6.0 - - 4149_8:65493597-65493597 G>T_GAGLLLPPPGGGCGGSAGSGGGGGG 0.0 14:23856803-23856803 C>T 0.0 3903 MELANOMA - - - - MYH6 uc001wjv.3,p.E1529K|NM_002471,p.E1529K|ENST00000405093,p.E1529K|ENST00000356287,p.E1529K retained_intron, protein_coding uc001wjv.3 nonsynonymous SNV exon32 c.G4585A p.E1529K QLGEGGKNVHELEKVRKQLEVEKLE QLGEGGKNVHELKKVRKQLEVEKLE 1.0 8.0 - - 3903_14:23856803-23856803 C>T_QLGEGGKNVHELKKVRKQLEVEKLE 0.0 19:55699534-55699534 G>A 0.0 4155 MELANOMA - - - - PTPRH uc002qjq.3,p.S796F|NM_002842,p.S796F|ENST00000263434,p.S618F|NM_001161440,p.S618F|ENST00000376350,p.S796F|uc010esv.3,p.S618F protein_coding, processed_transcript uc010esv.3 nonsynonymous SNV exon11 c.C1853T p.S618F QQKPELRDLVFSSPGDIPAEDFADH QQKPELRDLVFSFPGDIPAEDFADH 5.0 3.0 - - 4155_19:55699534-55699534 G>A_QQKPELRDLVFSFPGDIPAEDFADH 0.0 9:116956726-116956726 G>A 1.0 3713 MELANOMA - - ID=COSM170416;OCCURENCE=1(large_intestine) - COL27A1 uc011lxl.2,p.D687N|NM_032888,p.D687N|ENST00000356083,p.D687N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011lxl.2 nonsynonymous SNV exon6 c.G2059A p.D687N KGDPGLSPGKAHDGAKGDMGLPGLS KGDPGLSPGKAHNGAKGDMGLPGLS 3.0 8.0 - - 3713_9:116956726-116956726 G>A_KGDPGLSPGKAHNGAKGDMGLPGLS 0.0 2:202134247-202134247 G>A 1.0 4346 COLORECTAL - - - 1 CASP8 ENST00000264275,p.R107H|uc002uxp.1,p.R107H|NM_001228,p.R107H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002uxp.1 nonsynonymous SNV exon4 c.G320A p.R107H RAQISAYRFHFCRMSWAEANSQCQT RAQISAYRFHFCHMSWAEANSQCQT 10.0 7.0 - - 4346_2:202134247-202134247 G>A_RAQISAYRFHFCHMSWAEANSQCQT 0.0 17:4863405-4863405 T>A 1.0 4037 NSCLC - - - - SPAG7 ENST00000573366,p.E59V|uc002gaf.3,p.E110V|ENST00000575142,p.E99V|ENST00000206020,p.E110V|uc002gae.3,p.E110V|NM_004890,p.E110V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002gaf.3 nonsynonymous SNV exon5 c.A329T p.E110V DDDCRYVMIFKKEFAPSDEELDSYR DDDCRYVMIFKKVFAPSDEELDSYR 7.0 7.0 - - 4037_17:4863405-4863405 T>A_DDDCRYVMIFKKVFAPSDEELDSYR 0.0 2:96993335-96993335 C>A 0.0 4126 NSCLC - - - - ITPRIPL1 uc010yul.2,p.F314L|uc002svy.3,p.F330L|ENST00000361124,p.F330L|NM_001008949,p.F322L|ENST00000536814,p.F314L|NM_178495,p.F330L|NM_001163523,p.F314L|ENST00000439118,p.F322L|NM_001163524,p.F314L|ENST00000542887,p.F314L|uc010yuk.2,p.F314L|uc002svx.3,p.F322L protein_coding uc010yul.2 nonsynonymous SNV exon2 c.C942A p.F314L GFHLDVCKTVQWFRNMMGNAWALVA GFHLDVCKTVQWLRNMMGNAWALVA 3.0 6.0 - - 4126_2:96993335-96993335 C>A_GFHLDVCKTVQWLRNMMGNAWALVA 0.0 15:90764695-90764695 C>T 1.0 4000 MELANOMA - - - - SEMA4B uc002bpa.3,p.S69F|uc010uqd.2,p.S69F|NM_020210,p.S231F|ENST00000411539,p.S231F|NM_198925,p.S231F|ENST00000379122,p.S226F|uc002boz.3,p.S231F|uc002boy.3,p.S231F|ENST00000332496,p.S231F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010uqd.2 nonsynonymous SNV exon7 c.C206T p.S69F RSQSLRPTKTESSLNWLQDPAFVAS RSQSLRPTKTESFLNWLQDPAFVAS 8.0 9.0 - - 4000_15:90764695-90764695 C>T_RSQSLRPTKTESFLNWLQDPAFVAS 0.0 20:50701700-50701700 T>C 1.0 4252 COLORECTAL - - - - ZFP64 NM_199427,p.E445G|uc002xwj.3,p.E226G|ENST00000361387,p.E445G|uc002xwk.3,p.E445G|ENST00000371523,p.E226G protein_coding, processed_transcript uc002xwk.3 nonsynonymous SNV exon9 c.A1334G p.E445G MIVHSGEKPFKCEFCDVRCTMKANL MIVHSGEKPFKCGFCDVRCTMKANL 8.0 1.0 - - 4252_20:50701700-50701700 T>C_MIVHSGEKPFKCGFCDVRCTMKANL 0.0 12:549784-549784 C>T 0.0 4189 MELANOMA - - - - CCDC77 uc010sdp.2,p.S316F|ENST00000422000,p.S316F|uc001qig.3,p.S348F|uc009zdk.3,p.S316F|uc010sdq.2,p.S316F|NM_001130147,p.S316F|ENST00000412006,p.S316F|ENST00000239830,p.S348F|ENST00000543504,p.S316F|NM_032358,p.S348F|NM_001130146,p.S316F|NM_001130148,p.S316F|ENST00000540180,p.S316F retained_intron, protein_coding, processed_transcript uc010sdq.2 nonsynonymous SNV exon10 c.C947T p.S316F HESHHAQSEYIKSLKDKLVQEKKLS HESHHAQSEYIKFLKDKLVQEKKLS 7.0 1.0 - - 4189_12:549784-549784 C>T_HESHHAQSEYIKFLKDKLVQEKKLS 0.0 7:134632356-134632357 GG>- 1.0 4234 NSCLC - - - - CALD1 uc003vry.3,p.G289fs|ENST00000422748,p.G315fs|uc003vrz.3,p.G544fs|NM_033138,p.G544fs|uc003vsc.3,p.G309fs|ENST00000436461,p.G289fs|uc003vsd.3,p.G283fs|NM_033140,p.G283fs|ENST00000424922,p.G283fs|uc010lmm.3,p.G315fs|ENST00000443197,p.G283fs|NM_033157,p.G315fs|ENST00000393118,p.G309fs|ENST00000361675,p.G544fs|ENST00000361388,p.G315fs|uc003vsb.3,p.G289fs|ENST00000495522,p.G309fs|NM_033139,p.G309fs|ENST00000543443,p.G294fs|uc011kpv.2,p.G153fs|uc003vse.3,p.G408fs|ENST00000361901,p.G289fs|uc011kpt.2,p.G63fs|ENST00000417172,p.G289fs|NM_004342,p.G289fs|uc011kpu.2,p.G294fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011kpv.2 frameshift deletion exon4 c.457_458del p.G153fs AGKRLEELRRRRGETESEEFEKLKQK AGKRLEELRRRRGDRERRVREAQTEAAGGGFGAGGTQEKEGGEKEGPGGGRAEEEAGGSRSKTQRGGREEEAKGRD 9.0 5.0 - - 4234_7:134632356-134632357 GG>-_AGKRLEELRRRRGDRERRVREAQTEAAGGGFGAGGTQEKEGGEKEGPGGGRAEEEAGGSRSKTQRGGREEEAKGRD 0.0 4:94145872-94145872 A>T 0.0 4301 MELANOMA - - - - GRID2 uc011cdu.2,p.R262S|NM_001510,p.R357S|ENST00000282020,p.R357S|uc010ikz.1,p.R38S|uc011cdt.2,p.R357S|ENST00000512631,p.R38S|ENST00000510992,p.R262S|NM_001286838,p.R262S protein_coding, processed_transcript, nonsense_mediated_decay uc011cdu.2 nonsynonymous SNV exon6 c.A786T p.R262S RKWHSMASLSCIRKNSKPWQGGRSM RKWHSMASLSCISKNSKPWQGGRSM 2.0 3.0 - - 4301_4:94145872-94145872 A>T_RKWHSMASLSCISKNSKPWQGGRSM 0.0 4:160268138-160268138 C>T 1.0 4000 MELANOMA - - - - RAPGEF2 uc003iqg.4,p.L1073F|NM_014247,p.L1073F|ENST00000264431,p.L1073F retained_intron, protein_coding, processed_transcript uc003iqg.4 nonsynonymous SNV exon19 c.C3217T p.L1073F LYPSRKKVPVKDLPPFGINSPQALK LYPSRKKVPVKDFPPFGINSPQALK 10.0 3.0 - - 4000_4:160268138-160268138 C>T_LYPSRKKVPVKDFPPFGINSPQALK 0.0 5:33458677-33458677 G>A 0.0 4298 COLORECTAL - - - - TARS uc003jhz.4,p.E227K|ENST00000455217,p.E364K|NM_001258437,p.E331K|uc031sja.1,p.E331K|uc011cod.3,p.E210K|uc011coc.3,p.E364K|ENST00000541634,p.E227K|NM_152295,p.E331K|ENST00000414361,p.E210K|uc010iup.2,p.E272K|NM_001258438,p.E364K|ENST00000265112,p.E331K|ENST00000502553,p.E331K|uc003jhy.4,p.E331K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031sja.1 nonsynonymous SNV exon11 c.G991A p.E331K KNRDHRKIGRDQELYFFHELSPGSC KNRDHRKIGRDQKLYFFHELSPGSC 9.0 6.0 - - 4298_5:33458677-33458677 G>A_KNRDHRKIGRDQKLYFFHELSPGSC 0.0 4:108868543-108868543 G>A 1.0 3775 CERVICAL - - - - CYP2U1 uc003hyp.3,p.E380K|ENST00000508453,p.E171K|ENST00000332884,p.E380K|NM_183075,p.E380K|uc011cfi.2,p.E171K protein_coding, processed_transcript uc011cfi.2 nonsynonymous SNV exon5 c.G511A p.E171K MSLNPDVQEKVHEEIERVIGANRAP MSLNPDVQEKVHKEIERVIGANRAP 6.0 8.0 - - 3775_4:108868543-108868543 G>A_MSLNPDVQEKVHKEIERVIGANRAP 0.0 19:1805932-1805932 G>A 0.0 4278 COLORECTAL - - - - ATP8B3 ENST00000310127,p.T259M|NM_001178002,p.T206M|NM_138813,p.T259M|ENST00000526092,p.T206M|uc002ltz.2,p.T206M|uc002ltw.4,p.T259M|uc002ltv.4,p.T206M|ENST00000539485,p.T259M|ENST00000525591,p.T206M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002ltz.2 nonsynonymous SNV exon9 c.C617T p.T206M NIVPADMLLLASTEPSSLCYVETVD NIVPADMLLLASMEPSSLCYVETVD 3.0 7.0 - - 4278_19:1805932-1805932 G>A_NIVPADMLLLASMEPSSLCYVETVD 0.0 11:62366007-62366007 C>T 0.0 4316 COLORECTAL - - - - MTA2 NM_004739,p.A99T|uc001ntq.2,p.A99T|ENST00000278823,p.A99T retained_intron, protein_coding uc001ntq.2 nonsynonymous SNV exon4 c.G295A p.A99T ELFLSRQFESLPATHIRGKCSVTLL ELFLSRQFESLPTTHIRGKCSVTLL 9.0 1.0 - - 4316_11:62366007-62366007 C>T_ELFLSRQFESLPTTHIRGKCSVTLL 0.0 19:42085967-42085967 A>G 0.0 4335 COLORECTAL - - - - CEACAM21 NM_001098506,p.K229R|NM_001288773,p.K101R|uc002ore.4,p.K229R|ENST00000407170,p.K101R|ENST00000401445,p.K229R protein_coding, processed_transcript, nonsense_mediated_decay uc002ore.4 nonsynonymous SNV exon3 c.A686G p.K229R SNPVSSNRSDPLKLTVKSDDNTLGI SNPVSSNRSDPLRLTVKSDDNTLGI 7.0 3.0 - - 4335_19:42085967-42085967 A>G_SNPVSSNRSDPLRLTVKSDDNTLGI 0.0 18:10773532-10773532 C>T 0.0 3713 MELANOMA - - - - PIEZO2 uc002kos.2,p.G863E|ENST00000383408,p.G151E|ENST00000302079,p.G863E|ENST00000580640,p.G888E|ENST00000503781,p.G863E|uc002kou.2,p.G217E|NM_022068,p.G863E|ENST00000582913,p.G877E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002kou.2 nonsynonymous SNV exon6 c.G650A p.G217E LEKPEVRKLAEPGEEKLEGYSEKAQ LEKPEVRKLAEPEEEKLEGYSEKAQ 2.0 2.0 - - 3713_18:10773532-10773532 C>T_LEKPEVRKLAEPEEEKLEGYSEKAQ 0.0 14:64518903-64518903 C>T 1.0 3713 MELANOMA - - - - SYNE2 NM_182914,p.P2758S|uc021ruh.1,p.P2791S|ENST00000554584,p.P2791S|ENST00000358025,p.P2758S|NM_015180,p.P2758S|uc001xgm.3,p.P2758S|ENST00000344113,p.P2758S|uc001xgl.3,p.P2758S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021ruh.1 nonsynonymous SNV exon48 c.C8371T p.P2791S LLGELNPSIPLLPDDILSQIRKCKV LLGELNPSIPLLSDDILSQIRKCKV 10.0 9.0 - - 3713_14:64518903-64518903 C>T_LLGELNPSIPLLSDDILSQIRKCKV 0.0 10:70856957-70856957 A>C 0.0 4335 COLORECTAL - - - - SRGN uc001joz.3,p.K66T|NM_002727,p.K66T|ENST00000242465,p.K66T protein_coding, processed_transcript uc001joz.3 nonsynonymous SNV exon2 c.A197C p.K66T GPMFELLPGESNKIPRLRTDLFPKT GPMFELLPGESNTIPRLRTDLFPKT 10.0 3.0 - - 4335_10:70856957-70856957 A>C_GPMFELLPGESNTIPRLRTDLFPKT 0.0 5:14419919-14419919 C>G 0.0 4186 BREAST - - - - TRIO ENST00000344204,p.I1664M|ENST00000513206,p.I1397M|uc003jfh.1,p.I1313M|uc003jff.3,p.I1664M|ENST00000537187,p.I1664M|ENST00000512070,p.I1605M|NM_007118,p.I1664M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003jfh.1 nonsynonymous SNV exon29 c.C3939G p.I1313M DKLSGGCELTVVIHDFTACNSNELT DKLSGGCELTVVMHDFTACNSNELT 7.0 7.0 - - 4186_5:14419919-14419919 C>G_DKLSGGCELTVVMHDFTACNSNELT 0.0 1:231473431-231473431 C>T 1.0 4110 BILE DUCT - - - - EXOC8 uc001huq.3,p.G21S|ENST00000360394,p.G21S|NM_175876,p.G21S|ENST00000366645,p.G17S protein_coding uc001huq.3 nonsynonymous SNV exon1 c.G61A p.G21S GASRLRRQLESGGFEARLYVKQLSQ GASRLRRQLESGSFEARLYVKQLSQ 7.0 6.0 - - 4110_1:231473431-231473431 C>T_GASRLRRQLESGSFEARLYVKQLSQ 0.0 9:34723556-34723556 T>G 0.0 4160 COLORECTAL - - - - FAM205A uc011lor.2,p.K1227N|NM_001141917,p.K1227N|ENST00000378788,p.K1227N protein_coding uc011lor.2 nonsynonymous SNV exon4 c.A3681C p.K1227N IKCFLQHINPKTKGKGHEDSMFSAA IKCFLQHINPKTNGKGHEDSMFSAA 1.0 7.0 - - 4160_9:34723556-34723556 T>G_IKCFLQHINPKTNGKGHEDSMFSAA 0.0 1:28858494-28858494 A>C 1.0 4037 NSCLC - - - - RCC1 uc001bqg.2,p.S85R|ENST00000430407,p.S85R|ENST00000411533,p.S102R|NM_001269,p.S85R|NM_001048195,p.S102R|uc001bqb.2,p.S85R|NM_001048194,p.S116R|NM_001048199,p.S85R|uc001bqa.2,p.S85R|ENST00000373833,p.S85R|ENST00000419074,p.S85R|ENST00000373831,p.S116R|uc001bqf.2,p.S116R|uc001bqc.2,p.S85R|ENST00000427469,p.S85R|ENST00000373832,p.S85R|ENST00000398958,p.S85R|ENST00000434290,p.S93R|uc001bqe.2,p.S102R retained_intron, protein_coding, nonsense_mediated_decay uc001bqg.2 nonsynonymous SNV exon3 c.A253C p.S85R EAGGMHTVCLSKSGQVYSFGCNDEG EAGGMHTVCLSKRGQVYSFGCNDEG 9.0 6.0 - - 4037_1:28858494-28858494 A>C_EAGGMHTVCLSKRGQVYSFGCNDEG 0.0 7:34097674-34097674 G>A 1.0 4284 COLORECTAL - - - - BMPER uc011kap.2,p.G311R|NM_133468,p.G311R|ENST00000297161,p.G311R|ENST00000426693,p.G311R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011kap.2 nonsynonymous SNV exon11 c.G931A p.G311R KVCKFGNKIFQDGEMWSSINCTICA KVCKFGNKIFQDREMWSSINCTICA 5.0 5.0 - - 4284_7:34097674-34097674 G>A_KVCKFGNKIFQDREMWSSINCTICA 0.0 1:22970607-22970607 G>T 1.0 4287 COLORECTAL - - - - C1QC uc001bgc.4,p.G31C|NM_172369,p.G31C|uc001bga.4,p.G31C|NM_001114101,p.G31C|ENST00000374637,p.G31C|ENST00000374640,p.G31C|ENST00000374639,p.G31C protein_coding uc001bgc.4 nonsynonymous SNV exon2 c.G91T p.G31C LLLLPLRGQANTGCYGIPGMPGLPG LLLLPLRGQANTCCYGIPGMPGLPG 8.0 8.0 - - 4287_1:22970607-22970607 G>T_LLLLPLRGQANTCCYGIPGMPGLPG 0.0 9:27192561-27192561 C>T 0.0 2556 MELANOMA - - ID=COSM136706,COSM136705;OCCURENCE=1(skin) - TEK NM_000459,p.R522C|ENST00000406359,p.R479C|ENST00000519080,p.R332C|NM_001290078,p.R375C|uc003zqi.4,p.R522C|ENST00000519097,p.R375C|ENST00000380036,p.R522C|uc003zqj.1,p.R456C|uc011lnp.2,p.R375C|uc011lno.2,p.R479C|NM_001290077,p.R479C protein_coding, nonsense_mediated_decay uc011lnp.2 nonsynonymous SNV exon9 c.C1123T p.R375C RTEYELCVQLVRRGEGGEGHPGPVR RTEYELCVQLVRCGEGGEGHPGPVR 2.0 10.0 - - 2556_9:27192561-27192561 C>T_RTEYELCVQLVRCGEGGEGHPGPVR 0.0 13:95726528-95726528 C>A 1.0 4281 COLORECTAL - - - - ABCC4 ENST00000376887,p.D953Y|ENST00000412704,p.D906Y|NM_001301829,p.D906Y|uc010afk.3,p.D906Y|NM_005845,p.D953Y|uc001vmd.4,p.D953Y protein_coding, processed_transcript uc010afk.3 nonsynonymous SNV exon22 c.G2716T p.D906Y FLTTSRWFAVRLDAICAMFVIIVAF FLTTSRWFAVRLYAICAMFVIIVAF 7.0 6.0 - - 4281_13:95726528-95726528 C>A_FLTTSRWFAVRLYAICAMFVIIVAF 0.0 10:1406016-1406016 C>T 0.0 3795 MELANOMA - - - - ADARB2 NM_018702,p.G95D|ENST00000381312,p.G95D|uc009xhq.3,p.G95D protein_coding, processed_transcript uc009xhq.3 nonsynonymous SNV exon3 c.G284A p.G95D PPSGDRARGGAPGAKRKRPLEEGNG PPSGDRARGGAPDAKRKRPLEEGNG 1.0 10.0 - - 3795_10:1406016-1406016 C>T_PPSGDRARGGAPDAKRKRPLEEGNG 0.0 18:43310340-43310340 G>A 1.0 3466 MELANOMA - - - - SLC14A1 ENST00000589891,p.E75K|uc002lbj.4,p.E75K|ENST00000586951,p.E19K|NM_001146037,p.E75K|ENST00000586142,p.E19K|ENST00000436407,p.E75K|uc021ujg.1,p.E19K|ENST00000586056,p.E19K|ENST00000321925,p.E19K|ENST00000588179,p.E75K|ENST00000589700,p.E19K|uc002lbf.4,p.E19K|NM_001146036,p.E19K|ENST00000415427,p.E75K|uc010xcn.2,p.E19K|uc010dnk.3,p.E75K|NM_001128588,p.E75K|uc002lbk.4,p.E19K|NM_015865,p.E19K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021ujg.1 nonsynonymous SNV exon1 c.G55A p.E19K MVRVDSPTMVRGENQVSPCQGRRCF MVRVDSPTMVRGKNQVSPCQGRRCF 4.0 6.0 - - 3466_18:43310340-43310340 G>A_MVRVDSPTMVRGKNQVSPCQGRRCF 0.0 7:127991494-127991494 G>A 0.0 3998 MELANOMA - - - - PRRT4 uc022aky.1,p.P706S|NM_001174164,p.P706S|ENST00000535159,p.P706S|ENST00000446477,p.P706S|ENST00000435512,p.P500S protein_coding uc022aky.1 nonsynonymous SNV exon6 c.C2116T p.P706S CRGFEGAAANPAPSPASSPCSDYTV CRGFEGAAANPASSPASSPCSDYTV 1.0 9.0 - - 3998_7:127991494-127991494 G>A_CRGFEGAAANPASSPASSPCSDYTV 0.0 14:70512765-70512765 G>A 0.0 3998 MELANOMA - - - - SLC8A3 ENST00000534137,p.R892C|uc001xlv.3,p.R266C|ENST00000357887,p.R893C|NM_001130417,p.R266C|ENST00000216568,p.R266C|uc001xlw.3,p.R892C|uc001xlx.3,p.R893C|NM_182932,p.R889C|ENST00000381269,p.R895C|NM_182936,p.R252C|ENST00000356921,p.R889C|uc001xly.3,p.R895C|uc001xlu.3,p.R252C|NM_058240,p.R892C|ENST00000528359,p.R893C|ENST00000394330,p.R252C|uc001xlz.3,p.R889C|NM_183002,p.R895C|NM_033262,p.R893C protein_coding, processed_transcript, nonsense_mediated_decay uc001xlz.3 nonsynonymous SNV exon7 c.C2665T p.R889C RRPHLGGELGGPRGCKLATTWLFVS RRPHLGGELGGPCGCKLATTWLFVS 1.0 10.0 - - 3998_14:70512765-70512765 G>A_RRPHLGGELGGPCGCKLATTWLFVS 0.0 5:172745038-172745038 C>T 1.0 3713 MELANOMA - - ID=COSM1696765;OCCURENCE=1(skin) - STC2 NM_003714,p.E241K|uc003mco.1,p.E241K|uc003mcn.1,p.E156K|ENST00000265087,p.E241K retained_intron, protein_coding, processed_transcript uc003mco.1 nonsynonymous SNV exon4 c.G721A p.E241K VDRTKLSRAHHGEAGHHLPEPSSRE VDRTKLSRAHHGKAGHHLPEPSSRE 2.0 9.0 - - 3713_5:172745038-172745038 C>T_VDRTKLSRAHHGKAGHHLPEPSSRE 0.0 1:104078042-104078042 C>G 1.0 4278 COLORECTAL - - - - RNPC3 ENST00000423855,p.S178R|uc010oum.1,p.S178R|ENST00000527062,p.S19R|ENST00000524631,p.S178R|NM_017619,p.S178R|uc010oul.1,p.S178R|ENST00000533099,p.S178R|uc010oun.2,p.S178R retained_intron, protein_coding, nonsense_mediated_decay uc010oun.2 nonsynonymous SNV exon5 c.C534G p.S178R STILANIVNALASVPKFYVQVLHLM STILANIVNALARVPKFYVQVLHLM 8.0 9.0 - - 4278_1:104078042-104078042 C>G_STILANIVNALARVPKFYVQVLHLM 0.0 10:51226216-51226216 C>T 1.0 4298 COLORECTAL - - - - PARG uc009xom.4,p.G171S|uc021pqg.2,p.G256S|ENST00000602930,p.G240S|ENST00000425119,p.G256S|uc001jik.4,p.G240S|uc001jij.4,p.G256S|uc010qgy.3,p.G279S protein_coding, processed_transcript uc021pqg.2 nonsynonymous SNV exon7 c.G766A p.G256S KAPENHADTIGSGRAIPIKQGMLLK KAPENHADTIGSSRAIPIKQGMLLK 10.0 9.0 - - 4298_10:51226216-51226216 C>T_KAPENHADTIGSSRAIPIKQGMLLK 0.0 2:206874448-206874448 G>T 1.0 4281 COLORECTAL - - - - INO80D NM_017759,p.T538N|ENST00000403263,p.T538N|uc002vaz.4,p.T538N protein_coding uc002vaz.4 nonsynonymous SNV exon9 c.C1613A p.T538N VQHQQQRKPRKKTKPPALTKKHKKK VQHQQQRKPRKKNKPPALTKKHKKK 7.0 5.0 - - 4281_2:206874448-206874448 G>T_VQHQQQRKPRKKNKPPALTKKHKKK 0.0 X:47836418-47836418 T>C 0.0 4287 COLORECTAL - - - - ZNF182 NM_006962,p.I356M|ENST00000305127,p.I356M|NM_001178099,p.I356M|ENST00000396965,p.I356M|uc004dit.3,p.I356M|NM_001007088,p.I337M|uc004dir.3,p.I356M|ENST00000376943,p.I337M|uc004dis.3,p.I337M protein_coding uc004dit.3 nonsynonymous SNV exon7 c.A1068G p.I356M KTYECTKCGESFIQKLDLIIHHSTH KTYECTKCGESFMQKLDLIIHHSTH 5.0 9.0 - - 4287_X:47836418-47836418 T>C_KTYECTKCGESFMQKLDLIIHHSTH 0.0 18:9360052-9360052 A>C 0.0 4320 COLORECTAL - - - - TWSG1 NM_020648,p.E69A|uc002knz.3,p.E69A|ENST00000262120,p.E69A|ENST00000581641,p.E69A protein_coding, nonsense_mediated_decay uc002knz.3 nonsynonymous SNV exon3 c.A206C p.E69A KECMLCLGALWDECCDCVGMCNPRN KECMLCLGALWDACCDCVGMCNPRN 8.0 3.0 - - 4320_18:9360052-9360052 A>C_KECMLCLGALWDACCDCVGMCNPRN 0.0 2:208434965-208434965 C>A 1.0 4266 COLORECTAL - - - 1 CREB1 ENST00000539789,p.S116Y|ENST00000421139,p.S102Y|ENST00000430624,p.S142Y|ENST00000353267,p.S142Y|uc002vcd.3,p.S142Y|uc002vcc.3,p.S156Y|NM_004379,p.S142Y|ENST00000457101,p.S116Y|NM_134442,p.S156Y|ENST00000536726,p.S142Y|ENST00000432329,p.S156Y|ENST00000445803,p.S156Y|uc010ziz.1,p.S140Y|ENST00000448277,p.S102Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ziz.1 nonsynonymous SNV exon5 c.C419A p.S140Y DAPGVPRIEEEKSEEETSAPAITTV DAPGVPRIEEEKYEEETSAPAITTV 9.0 8.0 - - 4266_2:208434965-208434965 C>A_DAPGVPRIEEEKYEEETSAPAITTV 0.0 17:15975524-15975524 A>G 1.0 4180 BREAST - - - 1 NCOR1 uc002gpp.1,p.L1184S|NM_006311,p.L1277S|uc002gpo.3,p.L1277S|ENST00000395851,p.L1293S|ENST00000268712,p.L1277S|uc010coy.3,p.L185S|uc010vwc.2,p.L88S|NM_001190440,p.L1293S|uc002gpn.3,p.L1293S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vwc.2 nonsynonymous SNV exon5 c.T263C p.L88S VSAPLEGLICRALPRGSPHSDLKER VSAPLEGLICRASPRGSPHSDLKER 10.0 9.0 - - 4180_17:15975524-15975524 A>G_VSAPLEGLICRASPRGSPHSDLKER 0.0 3:62388817-62388817 G>A 0.0 4326 BREAST - - - - CADPS uc021wzv.1,p.T1265M|uc003dln.2,p.T1195M|uc003dlm.2,p.T1235M|NM_003716,p.T1274M|uc003dlj.1,p.T229M|ENST00000283269,p.T1235M|NM_183394,p.T1235M|uc003dll.2,p.T1274M|uc003dlk.1,p.T722M|ENST00000383710,p.T1274M|NM_183393,p.T1195M|ENST00000357948,p.T1195M retained_intron, protein_coding, processed_transcript uc021wzv.1 nonsynonymous SNV exon27 c.C3794T p.T1265M YNSSMNVICTWLTDRMDLQLHIYQL YNSSMNVICTWLMDRMDLQLHIYQL 3.0 10.0 - - 4326_3:62388817-62388817 G>A_YNSSMNVICTWLMDRMDLQLHIYQL 0.0 9:5968247-5968247 C>A 1.0 4046 OVARIAN - - - - KIAA2026 NM_001017969,p.D662Y|ENST00000513355,p.D595Y|uc003zjq.4,p.D662Y|ENST00000381461,p.D662Y|ENST00000399933,p.D662Y protein_coding, processed_transcript, nonsense_mediated_decay uc003zjq.4 nonsynonymous SNV exon3 c.G1984T p.D662Y DHPEINCHKVVRDILLEQSLQSHKK DHPEINCHKVVRYILLEQSLQSHKK 6.0 3.0 - - 4046_9:5968247-5968247 C>A_DHPEINCHKVVRYILLEQSLQSHKK 0.0 1:152732884-152732884 C>T 0.0 4149 OVARIAN - - - - KPRP NM_001025231,p.R274C|ENST00000606109,p.R274C|uc021ozf.1,p.R274C|ENST00000368773,p.R274C|uc001fal.1,p.R274C protein_coding uc021ozf.1 nonsynonymous SNV exon1 c.C820T p.R274C LQLFPRSCSPPRRFEPCSSSYLPLR LQLFPRSCSPPRCFEPCSSSYLPLR 1.0 2.0 - - 4149_1:152732884-152732884 C>T_LQLFPRSCSPPRCFEPCSSSYLPLR 0.0 3:172098882-172098882 A>T 1.0 4317 COLORECTAL - - - - FNDC3B ENST00000336824,p.Q1101L|NM_001135095,p.Q1101L|ENST00000416957,p.Q1101L|uc003fhz.4,p.Q1101L|NM_022763,p.Q1101L|uc003fhy.3,p.Q1101L|ENST00000415807,p.Q1101L retained_intron, protein_coding, processed_transcript uc003fhz.4 nonsynonymous SNV exon25 c.A3302T p.Q1101L LQVLVGRESEYKQVYKGEEATFQIS LQVLVGRESEYKLVYKGEEATFQIS 10.0 4.0 - - 4317_3:172098882-172098882 A>T_LQVLVGRESEYKLVYKGEEATFQIS 0.0 12:51502999-51502999 G>A 1.0 4345 COLORECTAL - - - - TFCP2 uc009zly.1,p.P110S|ENST00000257915,p.P208S|ENST00000549867,p.P208S|ENST00000548108,p.P110S|NM_005653,p.P208S|uc001rxv.2,p.P208S|NM_001173452,p.P208S|uc001rxw.3,p.P208S retained_intron, protein_coding uc009zly.1 nonsynonymous SNV exon6 c.C328T p.P110S FTMRKHGGEKGVPFRVQIDTFKENE FTMRKHGGEKGVSFRVQIDTFKENE 7.0 10.0 - - 4345_12:51502999-51502999 G>A_FTMRKHGGEKGVSFRVQIDTFKENE 0.0 12:124311343-124311343 T>A 0.0 4298 COLORECTAL - - - - DNAH10 ENST00000409039,p.V1312D|uc001uft.4,p.V1312D|NM_207437,p.V1312D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001uft.4 nonsynonymous SNV exon24 c.T3935A p.V1312D GFLRALRKLPRPVRGLSVTYYLEAK GFLRALRKLPRPDRGLSVTYYLEAK 3.0 2.0 - - 4298_12:124311343-124311343 T>A_GFLRALRKLPRPDRGLSVTYYLEAK 0.0 16:49660144-49660146 TGA>- 0.0 4335 COLORECTAL - - - - ZNF423 ENST00000567169,p.1054_1055del|ENST00000561648,p.1171_1172del|ENST00000535559,p.1054_1055del|ENST00000262383,p.1171_1172del|ENST00000562520,p.1111_1112del|uc010vgn.3,p.1054_1055del|uc031qwe.1,p.1111_1112del|uc031qwd.1,p.1171_1172del|NM_015069,p.1171_1172del|ENST00000563137,p.1111_1112del|ENST00000562871,p.1111_1112del|NM_001271620,p.1111_1112del retained_intron, protein_coding uc031qwe.1 nonframeshift deletion exon5 c.3332_3334del p.1111_1112del TSPVPRKKTYQCIKCQMTFENEREIQ TSPVPRKKTYQCKCQMTFENEREIQ 5.0 9.0 - - 4335_16:49660144-49660146 TGA>-_TSPVPRKKTYQCKCQMTFENEREIQ 0.0 3:48677616-48677616 C>G 1.0 4196 COLORECTAL - - - - CELSR3 ENST00000544264,p.M3139I|uc003cul.3,p.M3134I|NM_001407,p.M3134I|uc010hkf.3,p.M424I|ENST00000164024,p.M3134I|uc003cuf.1,p.M3232I|uc010hkg.3,p.M1117I retained_intron, protein_coding uc010hkg.3 nonsynonymous SNV exon24 c.G3351C p.M1117I PRRQPPRDYPGAMAGRFGSRDALDL PRRQPPRDYPGAIAGRFGSRDALDL 6.0 6.0 - - 4196_3:48677616-48677616 C>G_PRRQPPRDYPGAIAGRFGSRDALDL 0.0 11:108550129-108550129 G>A 1.0 3919 MELANOMA - - - 1 DDX10 ENST00000526794,p.M230I|uc001pkm.3,p.M230I|ENST00000322536,p.M230I|uc001pkl.1,p.M230I|NM_004398,p.M230I retained_intron, protein_coding, processed_transcript uc001pkm.3 nonsynonymous SNV exon6 c.G690A p.M230I MLVLDEADRILDMGFADTMNAVIEN MLVLDEADRILDIGFADTMNAVIEN 6.0 9.0 - - 3919_11:108550129-108550129 G>A_MLVLDEADRILDIGFADTMNAVIEN 0.0 X:19606777-19606777 G>A 1.0 3713 MELANOMA - - - - SH3KBP1 ENST00000379726,p.P408S|uc004czm.3,p.P428S|uc011mjf.2,p.P190S|uc011mje.2,p.P167S|NM_001184960,p.P190S|NM_001024666,p.P391S|uc004czl.3,p.P391S|ENST00000379698,p.P391S|ENST00000541422,p.P167S|NM_031892,p.P428S|ENST00000397821,p.P428S|ENST00000379716,p.P190S protein_coding, processed_transcript uc011mjf.2 nonsynonymous SNV exon7 c.C568T p.P190S ALPPRRPERPVGPLTHTRGDSPKID ALPPRRPERPVGSLTHTRGDSPKID 8.0 7.0 - - 3713_X:19606777-19606777 G>A_ALPPRRPERPVGSLTHTRGDSPKID 0.0 11:59426888-59426888 G>C 1.0 4071 COLORECTAL - - - - PATL1 uc001noe.4,p.P61R|NM_152716,p.P61R|uc009yms.1,p.P61R|ENST00000300146,p.P61R retained_intron, protein_coding uc009yms.1 nonsynonymous SNV exon3 c.C182G p.P61R AHERLAELEEKLPVAVNEQTGNGER AHERLAELEEKLRVAVNEQTGNGER 8.0 5.0 - - 4071_11:59426888-59426888 G>C_AHERLAELEEKLRVAVNEQTGNGER 0.0 2:197711869-197711869 C>A 0.0 4126 NSCLC - - - - PGAP1 NM_024989,p.V670F|uc002utw.3,p.V670F|ENST00000354764,p.V670F|uc002utx.3,p.V496F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002utx.3 nonsynonymous SNV exon23 c.G1486T p.V496F LWDVLLLPELDAVILTCQSMCFPLI LWDVLLLPELDAFILTCQSMCFPLI 2.0 6.0 - - 4126_2:197711869-197711869 C>A_LWDVLLLPELDAFILTCQSMCFPLI 0.0 17:5087377-5087377 G>A 1.0 3879 MELANOMA - - - - ZNF594 NM_032530,p.L59F|ENST00000575779,p.L59F|ENST00000576772,p.L59F|ENST00000399604,p.L59F|uc010cla.1,p.L59F|uc021tol.1,p.L59F protein_coding uc021tol.1 nonsynonymous SNV exon1 c.C175T p.L59F HWVSPLKDAMRHLPSQESGIREMHI HWVSPLKDAMRHFPSQESGIREMHI 5.0 10.0 - - 3879_17:5087377-5087377 G>A_HWVSPLKDAMRHFPSQESGIREMHI 0.0 7:18705926-18705926 G>A 1.0 3713 MELANOMA - - - - HDAC9 ENST00000405010,p.E517K|uc003suh.3,p.E517K|NM_001204145,p.E473K|ENST00000441542,p.E520K|uc003suf.2,p.E548K|ENST00000432645,p.E517K|NM_178423,p.E517K|uc011jyf.2,p.E440K|NM_001204148,p.E489K|uc003sui.3,p.E520K|uc003sud.2,p.E517K|uc011jye.2,p.E489K|NM_178425,p.E520K|NM_001204144,p.E515K|ENST00000417496,p.E515K|uc011jyd.2,p.E517K|uc010kud.2,p.E520K|uc003sue.3,p.E517K|uc003suj.3,p.E476K|uc011jyc.2,p.E476K|ENST00000456174,p.E489K|ENST00000406451,p.E517K|uc011jya.2,p.E515K|NM_001204147,p.E440K|uc003sua.1,p.E495K|uc011jyb.2,p.E473K|NM_014707,p.E517K|ENST00000524023,p.E440K|NM_058176,p.E517K|ENST00000401921,p.E476K|NM_001204146,p.E476K|ENST00000428307,p.E473K|ENST00000406072,p.E504K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011jyf.2 nonsynonymous SNV exon10 c.G1318A p.E440K AEEELQGDQAMQEDRAPSSGNSTRS AEEELQGDQAMQKDRAPSSGNSTRS 6.0 6.0 - - 3713_7:18705926-18705926 G>A_AEEELQGDQAMQKDRAPSSGNSTRS 0.0 15:48063206-48063206 C>A 0.0 4129 NSCLC - - - - SEMA6D ENST00000389433,p.H797N|ENST00000389428,p.H741N|ENST00000358066,p.H754N|ENST00000537942,p.H754N|ENST00000389432,p.H773N|ENST00000316364,p.H816N|uc001zwb.3,p.H754N|uc001zvw.3,p.H754N|uc001zvy.3,p.H816N|ENST00000558014,p.H754N|NM_153618,p.H816N|uc001zwc.3,p.H741N|NM_020858,p.H754N|ENST00000354744,p.H760N|uc010bek.3,p.H816N|ENST00000536845,p.H816N|NM_153617,p.H760N|uc001zvz.3,p.H760N|NM_153616,p.H741N|NM_001198999,p.H754N retained_intron, protein_coding uc010bek.3 nonsynonymous SNV exon19 c.C2446A p.H816N ETPQFFPSSPPPHSPLSHGHIPSAI ETPQFFPSSPPPNSPLSHGHIPSAI 4.0 4.0 - - 4129_15:48063206-48063206 C>A_ETPQFFPSSPPPNSPLSHGHIPSAI 0.0 3:164714412-164714412 T>G 0.0 4258 ENDOMETRIAL - - - - SI uc003fei.3,p.N1535H|NM_001041,p.N1535H|ENST00000264382,p.N1535H retained_intron, protein_coding, nonsense_mediated_decay uc003fei.3 nonsynonymous SNV exon40 c.A4603C p.N1535H MSYTGADICGFFNNSEYHLCTRWMQ MSYTGADICGFFHNSEYHLCTRWMQ 1.0 5.0 - - 4258_3:164714412-164714412 T>G_MSYTGADICGFFHNSEYHLCTRWMQ 0.0 8:23538897-23538897 C>T 1.0 3713 MELANOMA - - - - NKX3-1 NM_006167,p.R181Q|uc031tao.1,p.R106Q|ENST00000380871,p.R181Q|uc011kzx.2,p.R181Q|ENST00000523261,p.R106Q|NM_001256339,p.R106Q protein_coding uc031tao.1 nonsynonymous SNV exon3 c.G317A p.R106Q KIWFQNRRYKTKRKQLSSELGDLEK KIWFQNRRYKTKQKQLSSELGDLEK 2.0 3.0 - - 3713_8:23538897-23538897 C>T_KIWFQNRRYKTKQKQLSSELGDLEK 0.0 6:125379178-125379178 G>A 1.0 3466 MELANOMA - - - - RNF217 NM_152553,p.D111N|ENST00000521654,p.D403N|uc003pzr.3,p.D168N|ENST00000359704,p.D111N|uc003pzs.3,p.D111N|ENST00000275184,p.D47N|NM_001286398,p.D403N|ENST00000560949,p.D168N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003pzs.3 nonsynonymous SNV exon5 c.G331A p.D111N HEGVNCKEYKKGDKLLRHWASEIEH HEGVNCKEYKKGNKLLRHWASEIEH 8.0 9.0 - - 3466_6:125379178-125379178 G>A_HEGVNCKEYKKGNKLLRHWASEIEH 0.0 1:46810807-46810807 C>T 1.0 2556 MELANOMA - - - - NSUN4 NM_001256128,p.P94L|uc001cpr.2,p.P143L|ENST00000537428,p.P94L|uc009vyg.2,p.P94L|NM_199044,p.P143L|uc010omc.2,p.P94L|ENST00000474844,p.P143L|uc031pml.1,p.P94L|NM_001256127,p.P94L|ENST00000536062,p.P94L protein_coding, processed_transcript, nonsense_mediated_decay uc031pml.1 nonsynonymous SNV exon2 c.C281T p.P94L CFTFDRGDISRFPPARPGSLGVMEY CFTFDRGDISRFLPARPGSLGVMEY 7.0 5.0 - - 2556_1:46810807-46810807 C>T_CFTFDRGDISRFLPARPGSLGVMEY 0.0 19:16612234-16612234 C>T 1.0 3879 MELANOMA - - - - C19orf44 ENST00000221671,p.P211S|uc002neh.1,p.P211S|uc002nef.1,p.P211S|ENST00000596592,p.P211S|ENST00000593380,p.P211S|ENST00000594035,p.P211S|NM_001288834,p.P211S|NM_032207,p.P211S|uc002neg.3,p.P211S protein_coding, nonsense_mediated_decay uc002neh.1 nonsynonymous SNV exon2 c.C631T p.P211S PKQKEPARTFDSPDSDEEEMKVLLG PKQKEPARTFDSSDSDEEEMKVLLG 7.0 6.0 - - 3879_19:16612234-16612234 C>T_PKQKEPARTFDSSDSDEEEMKVLLG 0.0 3:171329396-171329396 G>A 1.0 3713 MELANOMA - - - - PLD1 ENST00000340989,p.P971S|uc003fhu.4,p.P265S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003fhu.4 nonsynonymous SNV exon8 c.C793T p.P265S CFRSKMTPGVEDP CFRSKMTPGVEDS 6.0 7.0 - - 3713_3:171329396-171329396 G>A_CFRSKMTPGVEDS 0.0 17:25930892-25930892 C>T 1.0 4317 COLORECTAL - - - - KSR1 ENST00000509603,p.P515S|ENST00000398982,p.P250S|uc002gzm.3,p.P179S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002gzm.3 nonsynonymous SNV exon7 c.C535T p.P179S PDISAFAHAAPLPEAADGTRLDDQP PDISAFAHAAPLSEAADGTRLDDQP 10.0 9.0 - - 4317_17:25930892-25930892 C>T_PDISAFAHAAPLSEAADGTRLDDQP 0.0 6:42185574-42185574 G>A 1.0 4284 COLORECTAL - - - - MRPS10 NM_018141,p.T5I|ENST00000053468,p.T5I|uc003osa.4,p.T5I protein_coding uc003osa.4 nonsynonymous SNV exon1 c.C14T p.T5I MAARTAFGAVCRRLWQG MAARIAFGAVCRRLWQG 7.0 8.0 - - 4284_6:42185574-42185574 G>A_MAARIAFGAVCRRLWQG 0.0 2:179470369-179470369 C>T 1.0 4000 MELANOMA - - - - TTN uc021vtb.2,p.E8820K|NM_133437,p.E9012K|uc031rqc.1,p.E17885K|ENST00000359218,p.E8945K|NM_001256850,p.E16244K|NM_133432,p.E8945K|NM_133378,p.E15317K|NM_001267550,p.E17885K|uc021vsz.2,p.E9012K|NM_003319,p.E8820K|ENST00000342175,p.E9012K|uc021vta.2,p.E8945K|ENST00000460472,p.E8820K|ENST00000589042,p.E17885K|uc031rqd.1,p.E16244K|ENST00000591111,p.E16244K|uc021vsy.2,p.E15317K|ENST00000342992,p.E15317K retained_intron, protein_coding uc031rqd.1 nonsynonymous SNV exon229 c.G48730A p.E16244K ERTKSTITLDWKEPRSNGGSPIQGY ERTKSTITLDWKKPRSNGGSPIQGY 6.0 6.0 - - 4000_2:179470369-179470369 C>T_ERTKSTITLDWKKPRSNGGSPIQGY 0.0 2:175431828-175431828 G>A 1.0 2556 MELANOMA - - - - WIPF1 uc002uiz.3,p.P476S|uc002uja.3,p.P476S|ENST00000392547,p.P476S|ENST00000392546,p.P476S|ENST00000272746,p.P476S|NM_001077269,p.P476S|ENST00000359761,p.P476S|NM_003387,p.P476S|uc010fqt.1,p.P476S retained_intron, protein_coding, processed_transcript uc010fqt.1 nonsynonymous SNV exon7 c.C1426T p.P476S PPEPYVQTTKSYPSKLARNESRSGS PPEPYVQTTKSYSSKLARNESRSGS 10.0 2.0 - - 2556_2:175431828-175431828 G>A_PPEPYVQTTKSYSSKLARNESRSGS 0.0 8:145727080-145727080 C>T 1.0 4213 COLORECTAL 0.0005 - ID=COSM3395202;OCCURENCE=1(pancreas) - PPP1R16A uc003zdd.3,p.R461C|NM_032902,p.R461C|uc003zdf.3,p.R461C|ENST00000435887,p.R461C|ENST00000292539,p.R461C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003zdf.3 nonsynonymous SNV exon10 c.C1381T p.R461C HDKAHHTLADLKRQRAAAKLQRPPP HDKAHHTLADLKCQRAAAKLQRPPP 9.0 6.0 - - 4213_8:145727080-145727080 C>T_HDKAHHTLADLKCQRAAAKLQRPPP 0.0 16:24580822-24580822 A>- 1.0 4326 BREAST - - - - RBBP6 NM_018703,p.R903fs|uc002dmi.3,p.R903fs|uc002dmh.3,p.R937fs|uc010vcb.1,p.R804fs|ENST00000564314,p.R804fs|NM_006910,p.R937fs|ENST00000348022,p.R903fs|uc002dmk.3,p.R770fs|ENST00000319715,p.R937fs retained_intron, protein_coding uc010vcb.1 frameshift deletion exon15 c.2412delA p.R804fs PGDGKGNKHKKHRKRRKGEESEGFLN PGDGKGNKHKKHRKEEKGRKVRVF 8.0 5.0 - - 4326_16:24580822-24580822 A>-_PGDGKGNKHKKHRKEEKGRKVRVF 0.0 8:146015241-146015241 C>T 1.0 4284 COLORECTAL - - - - RPL8 uc003zec.3,p.R241H|ENST00000528957,p.R241H|NM_033301,p.R241H|uc003zeb.3,p.R241H|NM_000973,p.R241H|ENST00000533397,p.R220H|ENST00000527914,p.R132H|ENST00000262584,p.R241H|ENST00000394920,p.R241H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003zec.3 nonsynonymous SNV exon6 c.G722A p.R241H APAGRKVGLIAARRTGRLRGTKTVQ APAGRKVGLIAAHRTGRLRGTKTVQ 10.0 3.0 - - 4284_8:146015241-146015241 C>T_APAGRKVGLIAAHRTGRLRGTKTVQ 0.0 2:70515313-70515313 C>T 1.0 3466 MELANOMA - - - - SNRPG ENST00000454893,p.G23S|ENST00000272348,p.G23S|NM_003096,p.G23S|uc002sgp.3,p.G23S retained_intron, protein_coding, processed_transcript uc002sgp.3 nonsynonymous SNV exon3 c.G67A p.G23S KFMDKKLSLKLNGGRHVQGILRGFD KFMDKKLSLKLNSGRHVQGILRGFD 5.0 2.0 - - 3466_2:70515313-70515313 C>T_KFMDKKLSLKLNSGRHVQGILRGFD 0.0 2:137814208-137814208 G>A 0.0 4316 COLORECTAL - - - - THSD7B ENST00000272643,p.A120T|ENST00000413152,p.A89T|ENST00000409968,p.A120T|uc002tva.1,p.A89T retained_intron, protein_coding, processed_transcript uc002tva.1 nonsynonymous SNV exon2 c.G265A p.A89T VSDWHHCVLVPYARGEVKPRTAECV VSDWHHCVLVPYTRGEVKPRTAECV 2.0 8.0 - - 4316_2:137814208-137814208 G>A_VSDWHHCVLVPYTRGEVKPRTAECV 0.0 14:47601040-47601040 T>G 0.0 4281 COLORECTAL - - - - MDGA2 ENST00000399232,p.K268Q|uc001wwj.4,p.K268Q|ENST00000439988,p.K199Q|NM_001113498,p.K199Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001wwj.4 nonsynonymous SNV exon5 c.A802C p.K268Q EIYEPFFTQGETKILKLKNLRPQDY EIYEPFFTQGETQILKLKNLRPQDY 2.0 9.0 - - 4281_14:47601040-47601040 T>G_EIYEPFFTQGETQILKLKNLRPQDY 0.0 2:157182411-157182411 G>A 1.0 4071 COLORECTAL - - - - NR4A2 ENST00000409108,p.P513L|ENST00000429376,p.P450L protein_coding, nonsense_mediated_decay ENST00000429376 nonsynonymous SNV exon8 c.C1349T p.P450L QRPRDFQQWGVEPPQLFVQTVGEAP QRPRDFQQWGVELPQLFVQTVGEAP 5.0 2.0 - - 4071_2:157182411-157182411 G>A_QRPRDFQQWGVELPQLFVQTVGEAP 0.0 3:5244711-5244711 G>A 1.0 2369 MELANOMA - - - - EDEM1 ENST00000445686,p.G112S|uc003bqi.3,p.G307S|ENST00000256497,p.G307S|NM_014674,p.G307S|uc021wsl.1,p.G112S|uc011asz.1,p.G85S retained_intron, protein_coding, nonsense_mediated_decay uc021wsl.1 nonsynonymous SNV exon5 c.G334A p.G112S PDTNNETCTAGAGSLLVEFGILSRL PDTNNETCTAGASSLLVEFGILSRL 9.0 6.0 - - 2369_3:5244711-5244711 G>A_PDTNNETCTAGASSLLVEFGILSRL 0.0 12:125570963-125570963 G>T 1.0 4258 ENDOMETRIAL - - - - AACS ENST00000316519,p.G149V|NM_023928,p.G149V|uc001uhc.3,p.G149V|uc001uhd.3,p.G149V|ENST00000261686,p.G149V protein_coding, processed_transcript, nonsense_mediated_decay uc001uhd.3 nonsynonymous SNV exon4 c.G446T p.G149V EVALFAAAMRKMGVKKGDRVVGYLP EVALFAAAMRKMVVKKGDRVVGYLP 7.0 10.0 - - 4258_12:125570963-125570963 G>T_EVALFAAAMRKMVVKKGDRVVGYLP 0.0 20:61943064-61943064 G>A 0.0 4240 BREAST - - - - COL20A1 ENST00000422202,p.E550K|uc011aav.2,p.E364K|ENST00000358894,p.E543K|NM_020882,p.E543K|ENST00000435874,p.E550K|uc011aau.2,p.E543K|ENST00000326996,p.E543K retained_intron, protein_coding, processed_transcript uc011aav.2 nonsynonymous SNV exon9 c.G1090A p.E364K DYEVSVQSLRGPEGSEARGIRARTP DYEVSVQSLRGPKGSEARGIRARTP 1.0 7.0 - - 4240_20:61943064-61943064 G>A_DYEVSVQSLRGPKGSEARGIRARTP 0.0 7:7629132-7629132 T>G 1.0 4320 COLORECTAL - - - - MIOS uc003srf.3,p.L661V|uc003srg.3,p.L196V|NM_019005,p.L661V|ENST00000340080,p.L661V|uc010ktq.3,p.L56V|ENST00000405785,p.L661V retained_intron, protein_coding, processed_transcript uc010ktq.3 nonsynonymous SNV exon3 c.T166G p.L56V ILLTGLTKDGVDLMESYVDRTGDVQ ILLTGLTKDGVDVMESYVDRTGDVQ 7.0 1.0 - - 4320_7:7629132-7629132 T>G_ILLTGLTKDGVDVMESYVDRTGDVQ 0.0 2:220149680-220149680 G>A 1.0 3713 MELANOMA - - - - DNAJB2 uc010zlb.1,p.E132K|ENST00000336576,p.E316K|uc002vkx.1,p.E316K|NM_006736,p.E316K retained_intron, protein_coding, processed_transcript uc010zlb.1 nonsynonymous SNV exon4 c.G394A p.E132K RGEATKRSPSPEEKASRCLIL RGEATKRSPSPEKKASRCLIL 9.0 10.0 - - 3713_2:220149680-220149680 G>A_RGEATKRSPSPEKKASRCLIL 0.0 5:71756834-71756834 G>A 0.0 4235 COLORECTAL - - - - ZNF366 ENST00000318442,p.P164S|NM_152625,p.P164S|uc003kce.1,p.P164S protein_coding, nonsense_mediated_decay uc003kce.1 nonsynonymous SNV exon2 c.C490T p.P164S QEPIKPSAVWPQPTPTPFLPTPYPY QEPIKPSAVWPQSTPTPFLPTPYPY 3.0 1.0 - - 4235_5:71756834-71756834 G>A_QEPIKPSAVWPQSTPTPFLPTPYPY 0.0 22:42525856-42525856 A>G 0.0 4240 BREAST - - - - CYP2D6 ENST00000360608,p.V79A|ENST00000359033,p.V79A|ENST00000360124,p.V19A|ENST00000389970,p.V79A|uc003bce.3,p.V79A|uc003bcf.3,p.V79A|NM_000106,p.V79A|NM_001025161,p.V79A retained_intron, protein_coding, nonsense_mediated_decay uc003bcf.3 nonsynonymous SNV exon2 c.T236C p.V79A DVFSLQLAWTPVVVLNGLAAVREAL DVFSLQLAWTPVAVLNGLAAVREAL 5.0 9.0 - - 4240_22:42525856-42525856 A>G_DVFSLQLAWTPVAVLNGLAAVREAL 0.0 12:133306847-133306847 G>A 1.0 3466 MELANOMA - - - - ANKLE2 uc001ukx.2,p.S634F|ENST00000539605,p.S572F|ENST00000357997,p.S634F|NM_015114,p.S634F retained_intron, protein_coding, processed_transcript uc001ukx.2 nonsynonymous SNV exon11 c.C1901T p.S634F SCRDKATTSGSNSISVRAFLDEDDM SCRDKATTSGSNFISVRAFLDEDDM 9.0 5.0 - - 3466_12:133306847-133306847 G>A_SCRDKATTSGSNFISVRAFLDEDDM 0.0 15:67665763-67665763 C>T 0.0 2591 MELANOMA - - - - IQCH NM_001284348,p.P207L|NM_001031715,p.P455L|ENST00000358767,p.P282L|NM_001284347,p.P203L|uc002aqo.2,p.P455L|uc002aqp.2,p.P207L|ENST00000546225,p.P203L|ENST00000335894,p.P455L|ENST00000360277,p.P207L|uc002aqq.2,p.P203L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002aqq.2 nonsynonymous SNV exon6 c.C608T p.P203L RIRTSRRTIIHIPSLGYSQPVREHI RIRTSRRTIIHILSLGYSQPVREHI 3.0 8.0 - - 2591_15:67665763-67665763 C>T_RIRTSRRTIIHILSLGYSQPVREHI 0.0 15:24921210-24921210 G>A 0.0 4149 OVARIAN - - - - NPAP1 uc001ywo.3,p.V66I|NM_018958,p.V66I|ENST00000329468,p.V66I protein_coding uc001ywo.3 nonsynonymous SNV exon1 c.G196A p.V66I NARRRPSAASIFVAPKRPCPLPRAA NARRRPSAASIFIAPKRPCPLPRAA 1.0 4.0 - - 4149_15:24921210-24921210 G>A_NARRRPSAASIFIAPKRPCPLPRAA 0.0 X:83128760-83128760 G>T 0.0 4316 COLORECTAL - - - - CYLC1 NM_021118,p.K348N|uc004eei.2,p.K348N|ENST00000329312,p.K348N|uc004eeh.2,p.K347N protein_coding uc004eei.2 nonsynonymous SNV exon4 c.G1044T p.K348N ESGDSKDERKDTKKDKKKLKKDDKK ESGDSKDERKDTNKDKKKLKKDDKK 1.0 10.0 - - 4316_X:83128760-83128760 G>T_ESGDSKDERKDTNKDKKKLKKDDKK 0.0 2:69555428-69555428 G>A 1.0 4287 COLORECTAL - - - - GFPT1 NM_001244710,p.A623V|ENST00000361060,p.A605V|uc002sfh.3,p.A605V|ENST00000357308,p.A623V|NM_002056,p.A605V|uc002sfi.2,p.A623V protein_coding, processed_transcript uc002sfi.2 nonsynonymous SNV exon18 c.C1868T p.A623V IMRDHTYAKCQNALQQVVARQGRPV IMRDHTYAKCQNVLQQVVARQGRPV 10.0 10.0 - - 4287_2:69555428-69555428 G>A_IMRDHTYAKCQNVLQQVVARQGRPV 0.0 16:1265079-1265079 C>G 0.0 4326 BREAST - - - - CACNA1H uc002ckt.3,p.D1673E|ENST00000565831,p.D1673E|uc002cks.3,p.D1679E|uc002ckv.3,p.D379E|ENST00000348261,p.D1679E|uc010brj.3,p.D390E|NM_001005407,p.D1673E|NM_021098,p.D1679E|uc002cku.3,p.D385E|ENST00000358590,p.D1673E retained_intron, protein_coding uc010brj.3 nonsynonymous SNV exon10 c.C1170G p.D390E KLVAFGFRRFFKDRWNQLDLAIVLL KLVAFGFRRFFKERWNQLDLAIVLL 5.0 6.0 - - 4326_16:1265079-1265079 C>G_KLVAFGFRRFFKERWNQLDLAIVLL 0.0 2:108489139-108489139 T>G 0.0 4238 COLORECTAL - - - - RGPD4 ENST00000408999,p.F1560C|ENST00000354986,p.F1560C|uc002tdu.3,p.F747C|NM_182588,p.F1560C|uc010ywk.2,p.F1560C protein_coding uc010ywk.2 nonsynonymous SNV exon20 c.T4679G p.F1560C RIFSSEKSKPFAFGNSSATGSLFGF RIFSSEKSKPFACGNSSATGSLFGF 2.0 4.0 - - 4238_2:108489139-108489139 T>G_RIFSSEKSKPFACGNSSATGSLFGF 0.0 6:73830278-73830278 T>G 0.0 4213 COLORECTAL - - - - KCNQ5 uc003pgj.4,p.L400V|ENST00000414165,p.L400V|ENST00000342056,p.L400V|uc011dyj.2,p.L400V|ENST00000370398,p.L400V|ENST00000355194,p.L400V|ENST00000370392,p.L400V|uc003pgk.3,p.L400V|NM_019842,p.L400V|NM_001160134,p.L400V|NM_001160133,p.L400V|uc011dyh.2,p.L400V protein_coding uc011dyj.2 nonsynonymous SNV exon8 c.T1198G p.L400V VSIATWKPHLKALHTCSPTKKEQGE VSIATWKPHLKAVHTCSPTKKEQGE 4.0 4.0 - - 4213_6:73830278-73830278 T>G_VSIATWKPHLKAVHTCSPTKKEQGE 0.0 2:1271281-1271281 G>A 0.0 3795 MELANOMA 0.0009 - ID=COSM1399184;OCCURENCE=1(large_intestine) - SNTG2 uc010ewi.3,p.E281K|ENST00000308624,p.E408K|ENST00000407292,p.E281K|NM_018968,p.E408K|uc002qwq.3,p.E408K protein_coding, processed_transcript, nonsense_mediated_decay uc010ewi.3 nonsynonymous SNV exon8 c.G841A p.E281K GKSHVFNVELGSELAMWEKSFQRAT GKSHVFNVELGSKLAMWEKSFQRAT 1.0 3.0 - - 3795_2:1271281-1271281 G>A_GKSHVFNVELGSKLAMWEKSFQRAT 0.0 17:47656157-47656157 G>A 0.0 3903 MELANOMA - - ID=COSM2698369;OCCURENCE=1(large_intestine) - NXPH3 NM_007225,p.R85H|uc002ipa.3,p.R85H|ENST00000513748,p.R85H|ENST00000328741,p.R85H retained_intron, protein_coding uc002ipa.3 nonsynonymous SNV exon2 c.G254A p.R85H GEAWGILGQPPNRPNHSPPPSAKVK GEAWGILGQPPNHPNHSPPPSAKVK 3.0 5.0 - - 3903_17:47656157-47656157 G>A_GEAWGILGQPPNHPNHSPPPSAKVK 0.0 8:4277522-4277522 G>A 0.0 4259 COLORECTAL - - ID=COSM3413033,COSM3413032;OCCURENCE=1(central_nervous_system) - CSMD1 ENST00000537824,p.T123M|NM_033225,p.T123M|ENST00000542608,p.T123M|uc022aqr.1,p.T123M|ENST00000602723,p.T123M|ENST00000539096,p.T123M|ENST00000602557,p.T123M|ENST00000520002,p.T123M|ENST00000400186,p.T123M retained_intron, protein_coding, processed_transcript uc022aqr.1 nonsynonymous SNV exon3 c.C368T p.T123M IVSTGSILTLWFTTDFAVSAQGFKA IVSTGSILTLWFMTDFAVSAQGFKA 3.0 10.0 - - 4259_8:4277522-4277522 G>A_IVSTGSILTLWFMTDFAVSAQGFKA 0.0 7:57528861-57528862 AA>- 0.0 4284 COLORECTAL - - - - ZNF716 ENST00000420713,p.K232fs|uc011kdi.1,p.K232fs|NM_001159279,p.K232fs protein_coding uc011kdi.1 frameshift deletion exon4 c.694_695del p.K232fs KSFNCSSTLTRHKRIHTGEKPYRCE KSFNCSSTLTRHKNSYWRETLQM 4.0 8.0 - - 4284_7:57528861-57528862 AA>-_KSFNCSSTLTRHKNSYWRETLQM 0.0 7:82545765-82545765 C>T 1.0 3678 MELANOMA - - ID=COSM1092190,COSM1092189;OCCURENCE=1(endometrium) - PCLO ENST00000423517,p.R3846Q|uc003uhv.2,p.R3846Q|uc010lec.3,p.R811Q|ENST00000333891,p.R3846Q|ENST00000437081,p.R566Q|NM_033026,p.R3846Q|uc003uhx.2,p.R3846Q|NM_014510,p.R3846Q protein_coding, processed_transcript, nonsense_mediated_decay uc010lec.3 nonsynonymous SNV exon2 c.G2432A p.R811Q MSDSEVSSTRPTRIESQHGIERPRT MSDSEVSSTRPTQIESQHGIERPRT 7.0 9.0 - - 3678_7:82545765-82545765 C>T_MSDSEVSSTRPTQIESQHGIERPRT 0.0 19:9452908-9452908 A>G 1.0 4213 COLORECTAL - - - - ZNF559 NM_001202406,p.R325G|ENST00000538743,p.R181G|ENST00000603380,p.R261G|uc010xkn.2,p.R253G|NM_032497,p.R261G|uc031rjh.1,p.R30G|ENST00000605750,p.R247G|uc021uok.1,p.R261G|uc021uoj.1,p.R219G|NM_001202407,p.R219G|ENST00000393883,p.R261G|uc002mle.4,p.R325G|ENST00000587557,p.R325G|uc031rjg.1,p.R30G protein_coding, processed_transcript uc031rjh.1 nonsynonymous SNV exon4 c.A88G p.R30G PFTESSYLTQHLRTHSRVLPIEHKK PFTESSYLTQHLGTHSRVLPIEHKK 8.0 6.0 - - 4213_19:9452908-9452908 A>G_PFTESSYLTQHLGTHSRVLPIEHKK 0.0 11:118984565-118984565 G>A 1.0 3919 MELANOMA - - - - C2CD2L ENST00000336702,p.G498E|NM_014807,p.G498E|uc001pvn.3,p.G498E retained_intron, protein_coding, processed_transcript uc001pvn.3 nonsynonymous SNV exon12 c.G1493A p.G498E SGPSNTSHSSSPGDSHLSNGLDPVA SGPSNTSHSSSPEDSHLSNGLDPVA 8.0 2.0 - - 3919_11:118984565-118984565 G>A_SGPSNTSHSSSPEDSHLSNGLDPVA 0.0 1:174979171-174979171 G>A 1.0 4345 COLORECTAL - - - - CACYBP ENST00000367681,p.V172M|uc001gkj.1,p.V215M|NM_001007214,p.V172M|ENST00000367679,p.V215M|uc001gki.1,p.V172M|NM_014412,p.V215M|ENST00000405362,p.V172M retained_intron, protein_coding uc001gkj.1 nonsynonymous SNV exon6 c.G643A p.V215M DDDMKRTINKAWVESREKQAKGDTE DDDMKRTINKAWMESREKQAKGDTE 10.0 8.0 - - 4345_1:174979171-174979171 G>A_DDDMKRTINKAWMESREKQAKGDTE 0.0 12:101731902-101731902 C>T 1.0 3713 MELANOMA - - - - UTP20 NM_014503,p.L1239F|uc001tia.1,p.L1239F|ENST00000261637,p.L1239F retained_intron, protein_coding uc001tia.1 nonsynonymous SNV exon30 c.C3715T p.L1239F PECDILTNVFAILSAKNLSDATASI PECDILTNVFAIFSAKNLSDATASI 3.0 5.0 - - 3713_12:101731902-101731902 C>T_PECDILTNVFAIFSAKNLSDATASI 0.0 16:67183409-67183409 C>T 0.0 4281 COLORECTAL - - - - B3GNT9 uc021tka.1,p.R327Q|NM_033309,p.R327Q|uc002erf.3,p.R327Q|ENST00000449549,p.R327Q protein_coding uc021tka.1 nonsynonymous SNV exon1 c.G980A p.R327Q DDVFLGMCLQRLRLTPEPHPAFRTF DDVFLGMCLQRLQLTPEPHPAFRTF 4.0 8.0 - - 4281_16:67183409-67183409 C>T_DDVFLGMCLQRLQLTPEPHPAFRTF 0.0 12:108912903-108912903 C>T 1.0 3879 MELANOMA - - - - FICD ENST00000552695,p.A343V|uc001tmx.1,p.A343V|NM_007076,p.A343V protein_coding, processed_transcript uc001tmx.1 nonsynonymous SNV exon3 c.C1028T p.A343V MQEFVQWLNSEEAMNLHPVEFAALA MQEFVQWLNSEEVMNLHPVEFAALA 4.0 4.0 - - 3879_12:108912903-108912903 C>T_MQEFVQWLNSEEVMNLHPVEFAALA 0.0 2:236957705-236957705 C>T 1.0 3903 MELANOMA - - - - AGAP1 ENST00000336665,p.P579S|NM_014914,p.P579S|NM_001037131,p.P632S|ENST00000409538,p.P844S|ENST00000304032,p.P632S|ENST00000428334,p.P471S|uc002vvt.3,p.P579S|uc002vvs.3,p.P632S retained_intron, protein_coding uc002vvt.3 nonsynonymous SNV exon15 c.C1735T p.P579S GNSHCVDCETQNPNWASLNLGALMC GNSHCVDCETQNSNWASLNLGALMC 7.0 4.0 - - 3903_2:236957705-236957705 C>T_GNSHCVDCETQNSNWASLNLGALMC 0.0 19:37440656-37440656 G>C 1.0 4326 BREAST 0.0005 - - - ZNF568 uc002ofd.3,p.E137Q|NM_198539,p.E201Q|uc002ofc.3,p.E201Q|uc010efe.3,p.E137Q|ENST00000587857,p.E137Q|ENST00000415168,p.E137Q|NM_001204835,p.E200Q|NM_001204836,p.E137Q|ENST00000333987,p.E201Q|NM_001204837,p.E137Q|uc021uts.1,p.E200Q retained_intron, protein_coding uc021uts.1 nonsynonymous SNV exon7 c.G598C p.E200Q LDLLRYEKGCVREKQSNEFGKPFYH LDLLRYEKGCVRQKQSNEFGKPFYH 7.0 6.0 - - 4326_19:37440656-37440656 G>C_LDLLRYEKGCVRQKQSNEFGKPFYH 0.0 19:59028217-59028217 C>A 1.0 3879 MELANOMA - - - - ZBTB45 ENST00000354590,p.G275V|ENST00000594051,p.G275V|NM_032792,p.G275V|uc002qtd.3,p.G275V|ENST00000600990,p.G275V|uc002qtf.3,p.G275V protein_coding uc002qtf.3 nonsynonymous SNV exon2 c.G824T p.G275V ADYSGAGRDFLRGAGSAEDVFPDSY ADYSGAGRDFLRVAGSAEDVFPDSY 4.0 8.0 - - 3879_19:59028217-59028217 C>A_ADYSGAGRDFLRVAGSAEDVFPDSY 0.0 12:88589322-88589322 G>C 1.0 4284 COLORECTAL - - - - TMTC3 NM_181783,p.E881Q|uc001tau.3,p.E881Q|ENST00000266712,p.E881Q protein_coding, nonsense_mediated_decay uc001tau.3 nonsynonymous SNV exon14 c.G2641C p.E881Q KSNKQLGKNGDEETPHKTTKDIKEI KSNKQLGKNGDEQTPHKTTKDIKEI 7.0 5.0 - - 4284_12:88589322-88589322 G>C_KSNKQLGKNGDEQTPHKTTKDIKEI 0.0 1:31898664-31898664 C>G 1.0 3879 MELANOMA - - - - SERINC2 uc009vtw.1,p.P145R protein_coding, processed_transcript uc009vtw.1 nonsynonymous SNV exon4 c.C434G p.P145R VLLRRRGLLPLHPHPAGAAHRLCAL VLLRRRGLLPLHRHPAGAAHRLCAL 6.0 6.0 - - 3879_1:31898664-31898664 C>G_VLLRRRGLLPLHRHPAGAAHRLCAL 0.0 1:64644503-64644503 G>A 1.0 3713 MELANOMA - - - - ROR1 ENST00000371079,p.G927R|ENST00000545203,p.G378R|uc001dbj.3,p.G927R|NM_005012,p.G927R protein_coding, processed_transcript uc001dbj.3 nonsynonymous SNV exon9 c.G2779A p.G927R KQASLLGDANIHGHTESMISAEL KQASLLGDANIHRHTESMISAEL 4.0 1.0 - - 3713_1:64644503-64644503 G>A_KQASLLGDANIHRHTESMISAEL 0.0 5:71491204-71491204 A>C 1.0 4281 COLORECTAL - - - - MAP1B ENST00000504492,p.K548N|uc003kbw.4,p.K674N|ENST00000296755,p.K674N|uc010iyy.1,p.K548N|uc010iyx.1,p.K548N|uc010iyw.1,p.K691N|NM_005909,p.K674N protein_coding, processed_transcript, nonsense_mediated_decay uc010iyy.1 nonsynonymous SNV exon4 c.A1644C p.K548N KKEDKTPIKKEEKPKKEEVKKEVKK KKEDKTPIKKEENPKKEEVKKEVKK 9.0 5.0 - - 4281_5:71491204-71491204 A>C_KKEDKTPIKKEENPKKEEVKKEVKK 0.0 17:37587375-37587375 C>G 0.0 4186 BREAST - - - - MED1 uc010wee.2,p.R42S|ENST00000300651,p.R214S|ENST00000394287,p.R214S|uc002hrv.4,p.R214S|NM_004774,p.R214S|uc002hru.2,p.R214S retained_intron, protein_coding, nonsense_mediated_decay uc010wee.2 nonsynonymous SNV exon8 c.G126C p.R42S KILHGSVGYLTPRSGGHLMNLKYYV KILHGSVGYLTPSSGGHLMNLKYYV 6.0 8.0 - - 4186_17:37587375-37587375 C>G_KILHGSVGYLTPSSGGHLMNLKYYV 0.0 2:128753998-128753998 C>A 1.0 3678 MELANOMA - - - - SAP130 uc002tpn.2,p.R214S|ENST00000259235,p.R453S|NM_024545,p.R453S|NM_001145928,p.R453S|ENST00000357702,p.R453S|uc002tpp.2,p.R453S|uc002tpq.1,p.R426S|uc010fmd.2,p.R453S|ENST00000259234,p.R427S protein_coding uc010fmd.2 nonsynonymous SNV exon11 c.G1359T p.R453S TSPRIQPDYPAERSSLIPISGHRAS TSPRIQPDYPAESSSLIPISGHRAS 6.0 10.0 - - 3678_2:128753998-128753998 C>A_TSPRIQPDYPAESSSLIPISGHRAS 0.0 11:117093932-117093932 G>A 1.0 4155 MELANOMA - - - - PCSK7 NM_004716,p.R383W|ENST00000540028,p.R24W|uc001pqr.3,p.R383W|ENST00000320934,p.R383W retained_intron, protein_coding, processed_transcript uc001pqr.3 nonsynonymous SNV exon9 c.C1147T p.R383W LAVTFSGGDKMLRSIVTTDWDLQKG LAVTFSGGDKMLWSIVTTDWDLQKG 9.0 6.0 - - 4155_11:117093932-117093932 G>A_LAVTFSGGDKMLWSIVTTDWDLQKG 0.0 11:61188969-61188969 G>A 1.0 4245 COLORECTAL - - - - CPSF7 uc009ynp.2,p.R56C|NM_024811,p.R99C|ENST00000448745,p.R56C|ENST00000340437,p.R99C|ENST00000544585,p.R56C|uc001nrr.3,p.R56C|ENST00000539952,p.R56C|uc001nrp.3,p.R99C|ENST00000541963,p.R56C|ENST00000536145,p.R56C|ENST00000439958,p.R56C|ENST00000477890,p.R56C|ENST00000450000,p.R56C|ENST00000449811,p.R56C|ENST00000536548,p.R56C|ENST00000537162,p.R56C|NM_001142565,p.R56C|ENST00000543545,p.R56C|ENST00000535222,p.R56C|ENST00000544990,p.R56C|uc001nrq.3,p.R56C|ENST00000413184,p.R56C|ENST00000394888,p.R56C|NM_001136040,p.R56C|ENST00000413232,p.R56C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009ynp.2 nonsynonymous SNV exon3 c.C166T p.R56C DRSSSTEPPPPVRQEPSPKPNNKTP DRSSSTEPPPPVCQEPSPKPNNKTP 8.0 9.0 - - 4245_11:61188969-61188969 G>A_DRSSSTEPPPPVCQEPSPKPNNKTP 0.0 8:101076199-101076199 G>C 0.0 3775 CERVICAL - - - - RGS22 ENST00000523287,p.S85C|NM_001286693,p.S85C|uc003yjc.1,p.S254C|ENST00000523437,p.S254C|uc003yjb.1,p.S266C|ENST00000360863,p.S266C|NM_001286692,p.S254C|uc003yja.1,p.S85C|NM_015668,p.S266C|ENST00000519725,p.S266C|uc022azh.1,p.S170C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc022azh.1 nonsynonymous SNV exon5 c.C509G p.S170C TKKDPSKTNKLISEFEEEEGEEEEV TKKDPSKTNKLICEFEEEEGEEEEV 3.0 9.0 - - 3775_8:101076199-101076199 G>C_TKKDPSKTNKLICEFEEEEGEEEEV 0.0 X:67938254-67938254 G>A 1.0 3713 MELANOMA - - - - STARD8 ENST00000252336,p.E420K|uc004dxc.4,p.E420K|uc004dxa.3,p.E420K|NM_001142503,p.E500K|uc004dxb.3,p.E500K|NM_001142504,p.E420K|NM_014725,p.E420K|ENST00000374599,p.E500K|ENST00000374597,p.E420K protein_coding, processed_transcript, nonsense_mediated_decay uc004dxc.4 nonsynonymous SNV exon5 c.G1258A p.E420K APAPAPAQDSEQEAHSGGEPTFASS APAPAPAQDSEQKAHSGGEPTFASS 3.0 8.0 - - 3713_X:67938254-67938254 G>A_APAPAPAQDSEQKAHSGGEPTFASS 0.0 11:103870929-103870929 C>T 1.0 2591 MELANOMA - - - - PDGFD ENST00000302251,p.G54E|NM_033135,p.G54E|uc001php.3,p.G54E|uc001phq.3,p.G60E|NM_025208,p.G60E|ENST00000529268,p.G83E|ENST00000393158,p.G60E protein_coding uc001phq.3 nonsynonymous SNV exon2 c.G179A p.G60E DLYRRDETIQVKGNGYVQSPRFPNS DLYRRDETIQVKENGYVQSPRFPNS 6.0 5.0 - - 2591_11:103870929-103870929 C>T_DLYRRDETIQVKENGYVQSPRFPNS 0.0 5:127638775-127638775 T>A 0.0 4284 COLORECTAL - - - - FBN2 ENST00000508053,p.D1936V|NM_001999,p.D1936V|ENST00000262464,p.D1936V|uc003kuu.3,p.D1936V retained_intron, protein_coding, processed_transcript uc003kuu.3 nonsynonymous SNV exon46 c.A5807T p.D1936V KASQDQTMCMDVDECERHPCGNGTC KASQDQTMCMDVVECERHPCGNGTC 4.0 1.0 - - 4284_5:127638775-127638775 T>A_KASQDQTMCMDVVECERHPCGNGTC 0.0 11:72466165-72466165 G>A 1.0 4317 COLORECTAL - - - - STARD10 uc001otb.3,p.A218V|uc001ota.3,p.A172V|NM_006645,p.A218V|uc001osz.4,p.A218V|uc001osy.3,p.A218V - uc001otb.3 nonsynonymous SNV exon7 c.C653T p.A218V FLAPKAMKKMYKACLKYPEWKQKHL FLAPKAMKKMYKVCLKYPEWKQKHL 10.0 2.0 - - 4317_11:72466165-72466165 G>A_FLAPKAMKKMYKVCLKYPEWKQKHL 0.0 10:14816509-14816509 C>T 0.0 4320 COLORECTAL - - - - FAM107B uc001ina.1,p.V52I|ENST00000181796,p.V52I|ENST00000487335,p.V52I|NM_031453,p.V52I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001ina.1 nonsynonymous SNV exon1 c.G154A p.V52I FNQSGVADTHSTVRVQPVAKAGRQP FNQSGVADTHSTIRVQPVAKAGRQP 8.0 7.0 - - 4320_10:14816509-14816509 C>T_FNQSGVADTHSTIRVQPVAKAGRQP 0.0 8:144789949-144789949 C>T 0.0 3466 MELANOMA - - - - CCDC166 NM_001162914,p.E111K|ENST00000542437,p.E111K|uc011lkr.2,p.E111K protein_coding uc011lkr.2 nonsynonymous SNV exon1 c.G331A p.E111K RVDLAQIHWQRAELASLYHGREDGV RVDLAQIHWQRAKLASLYHGREDGV 1.0 8.0 - - 3466_8:144789949-144789949 C>T_RVDLAQIHWQRAKLASLYHGREDGV 0.0 8:71068822-71068822 G>A 1.0 3784 MELANOMA - - - 1 NCOA2 ENST00000518287,p.S593F|ENST00000452400,p.S593F|NM_006540,p.S593F|uc003xyn.1,p.S593F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003xyn.1 nonsynonymous SNV exon11 c.C1778T p.S593F DSKDCFGLYGEPSEGTTGQAESSCH DSKDCFGLYGEPFEGTTGQAESSCH 9.0 4.0 - - 3784_8:71068822-71068822 G>A_DSKDCFGLYGEPFEGTTGQAESSCH 0.0 X:107838784-107838784 C>T 1.0 3713 MELANOMA - - - - COL4A5 NM_000495,p.S490L|uc004eob.1,p.S98L|uc004enz.2,p.S490L|uc022ccg.2,p.S490L|ENST00000361603,p.S490L|ENST00000328300,p.S490L retained_intron, protein_coding, processed_transcript uc022ccg.2 nonsynonymous SNV exon22 c.C1469T p.S490L GDTCFNCIGTGISGPPGQPGLPGLP GDTCFNCIGTGILGPPGQPGLPGLP 2.0 10.0 - - 3713_X:107838784-107838784 C>T_GDTCFNCIGTGILGPPGQPGLPGLP 0.0 7:138968617-138968617 C>T 1.0 3713 MELANOMA - - - - UBN2 uc011kqr.2,p.P989L|NM_173569,p.P989L|ENST00000288561,p.P906L|ENST00000473989,p.P989L protein_coding uc011kqr.2 nonsynonymous SNV exon15 c.C2966T p.P989L PLMYRLPLSTPSPGNGSQGSHPLVS PLMYRLPLSTPSLGNGSQGSHPLVS 7.0 3.0 - - 3713_7:138968617-138968617 C>T_PLMYRLPLSTPSLGNGSQGSHPLVS 0.0 4:73414382-73414382 G>A 0.0 4329 COLORECTAL - - - - ADAMTS3 uc003hgk.2,p.A106V|NM_014243,p.A106V|ENST00000286657,p.A106V protein_coding, processed_transcript uc003hgk.2 nonsynonymous SNV exon3 c.C317T p.A106V RLKPNTQLVAPGAVVEWHETSLVPG RLKPNTQLVAPGVVVEWHETSLVPG 3.0 4.0 - - 4329_4:73414382-73414382 G>A_RLKPNTQLVAPGVVVEWHETSLVPG 0.0 17:7577120-7577120 C>T 1.0 4160 COLORECTAL 0.0005 - ID=COSM99729,COSM1645335,COSM3356963,COSM10660;OCCURENCE=1(vulva),32(oesophagus),44(upper_aerodigestive_tract),4(bone),1(thymus),45(central_nervous_system),22(stomach),1(cervix),27(haematopoietic_and_lymphoid_tissue),42(lung),4(penis),8(endometrium),57(ovary),1(soft_tissue),1(fallopian_tube),5(biliary_tract),144(large_intestine),19(urinary_tract),2(genital_tract),4(liver),25(pancreas),70(breast),8(skin) 1 TP53 uc002gij.3,p.R234H|NM_001276761,p.R234H|NM_001126118,p.R234H|NM_000546,p.R273H|ENST00000455263,p.R273H|uc002gii.2,p.R114H|NM_001276698,p.R114H|ENST00000509690,p.R141H|NM_001276697,p.R114H|NM_001276695,p.R234H|NM_001126115,p.R141H|ENST00000445888,p.R273H|NM_001126116,p.R141H|ENST00000420246,p.R273H|ENST00000359597,p.R273H|NM_001126117,p.R141H|NM_001276696,p.R234H|uc002gih.3,p.R273H|NM_001126114,p.R273H|uc010cng.2,p.R114H|NM_001276699,p.R114H|ENST00000269305,p.R273H|NM_001126112,p.R273H|NM_001126113,p.R273H|NM_001276760,p.R234H|uc031qyq.1,p.R234H|uc010cnf.2,p.R114H retained_intron, protein_coding, processed_transcript uc031qyq.1 nonsynonymous SNV exon7 c.G701A p.R234H SGNLLGRNSFEVRVCACPGRDRRTE SGNLLGRNSFEVHVCACPGRDRRTE 10.0 10.0 - - 4160_17:7577120-7577120 C>T_SGNLLGRNSFEVHVCACPGRDRRTE 0.0 17:74011655-74011655 C>T 0.0 3998 MELANOMA - - - - EVPL uc010wss.1,p.E611K|ENST00000301607,p.E589K|uc010wst.1,p.E59K|ENST00000586740,p.E611K|NM_001988,p.E589K|uc002jqi.2,p.E589K retained_intron, protein_coding uc010wst.1 nonsynonymous SNV exon13 c.G175A p.E59K QSLGTEKETAQKECEAFLSTRPVGP QSLGTEKETAQKKCEAFLSTRPVGP 1.0 8.0 - - 3998_17:74011655-74011655 C>T_QSLGTEKETAQKKCEAFLSTRPVGP 0.0 12:58109709-58109709 C>T 1.0 4000 MELANOMA - - - - OS9 ENST00000389142,p.S249F|NM_001261420,p.S249F|ENST00000439210,p.S190F|uc001spj.3,p.S249F|uc001spm.3,p.S249F|uc001spn.3,p.S249F|ENST00000257966,p.S249F|uc031qia.1,p.S197F|NM_001261423,p.S190F|ENST00000315970,p.S249F|NM_001261422,p.S197F|ENST00000552285,p.S249F|uc001spk.3,p.S249F|NM_001017958,p.S249F|uc010sry.2,p.S216F|NM_001261421,p.S216F|ENST00000551035,p.S216F|uc010srz.2,p.S190F|uc001spl.3,p.S249F|NM_001017957,p.S249F|ENST00000389146,p.S249F|NM_006812,p.S249F|NM_001017956,p.S249F|ENST00000435406,p.S197F retained_intron, protein_coding, nonsense_mediated_decay uc031qia.1 nonsynonymous SNV exon5 c.C590T p.S197F PSAAPQAILCHPSLQPEEYMAYVQR PSAAPQAILCHPFLQPEEYMAYVQR 10.0 6.0 - - 4000_12:58109709-58109709 C>T_PSAAPQAILCHPFLQPEEYMAYVQR 0.0 8:3063133-3063133 C>A 0.0 4284 COLORECTAL - - - - CSMD1 ENST00000537824,p.G1626V|NM_033225,p.G1626V|uc022aqr.1,p.G1626V|ENST00000539096,p.G1626V|ENST00000520002,p.G1627V|ENST00000542608,p.G1626V|ENST00000602723,p.G1627V|uc003wqe.3,p.G783V|uc011kwj.2,p.G1019V|ENST00000400186,p.G1627V|ENST00000602557,p.G1627V retained_intron, protein_coding, processed_transcript uc022aqr.1 nonsynonymous SNV exon31 c.G4877T p.G1626V WDQVLPSCNAPCGGQYTGSEGVVLS WDQVLPSCNAPCVGQYTGSEGVVLS 2.0 2.0 - - 4284_8:3063133-3063133 C>A_WDQVLPSCNAPCVGQYTGSEGVVLS 0.0 14:97009182-97009182 C>A 1.0 4158 COLORECTAL - - - - PAPOLA NM_001293628,p.A164D|NM_001293632,p.A164D|NM_032632,p.A414D|ENST00000216277,p.A414D|NM_001293627,p.A414D|uc001yfq.3,p.A414D|uc010twv.2,p.A414D|uc010avp.3,p.A164D|uc001yfr.3,p.A414D|ENST00000392990,p.A414D|ENST00000555626,p.A164D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010twv.2 nonsynonymous SNV exon14 c.C1241A p.A414D VGSLEKNEFITLAHVNPQSFPAPKE VGSLEKNEFITLDHVNPQSFPAPKE 9.0 6.0 - - 4158_14:97009182-97009182 C>A_VGSLEKNEFITLDHVNPQSFPAPKE 0.0 3:195615440-195615440 G>A 1.0 4284 COLORECTAL - - - - TNK2 uc003fvt.1,p.T70I|ENST00000428187,p.T39I|uc010hzx.1,p.T21I|ENST00000381916,p.T70I|uc003fvs.1,p.T39I|NM_001010938,p.T70I|ENST00000427576,p.T71I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010hzx.1 nonsynonymous SNV exon2 c.C62T p.T21I RLGGGRMQPEEGTGWLLELLSEVQL RLGGGRMQPEEGIGWLLELLSEVQL 8.0 10.0 - - 4284_3:195615440-195615440 G>A_RLGGGRMQPEEGIGWLLELLSEVQL 0.0 20:42635214-42635214 G>A 0.0 3713 MELANOMA 0.0005 - - - TOX2 ENST00000372999,p.E23K|NM_001098797,p.E65K|NM_001098798,p.E74K|uc002xlf.4,p.E74K|ENST00000341197,p.E65K|ENST00000358131,p.E74K|uc010ggp.3,p.E23K|uc010ggo.3,p.E65K|ENST00000442881,p.E23K|uc002xle.4,p.E23K|uc021wdz.2,p.E65K|ENST00000423191,p.E23K|NM_032883,p.E23K|NM_001098796,p.E23K protein_coding uc021wdz.2 nonsynonymous SNV exon3 c.G193A p.E65K TSQTYNGQSENNEDYEIPPITPPNL TSQTYNGQSENNKDYEIPPITPPNL 4.0 2.0 - - 3713_20:42635214-42635214 G>A_TSQTYNGQSENNKDYEIPPITPPNL 0.0 5:140516577-140516577 G>A 0.0 4235 COLORECTAL - - ID=COSM3610651;OCCURENCE=1(lung) - PCDHB5 ENST00000231134,p.E521K|NM_015669,p.E521K|uc003liq.3,p.E521K protein_coding uc003liq.3 nonsynonymous SNV exon1 c.G1561A p.E521K NGHLFALRSLDYEALQAFEFRVGAT NGHLFALRSLDYKALQAFEFRVGAT 5.0 6.0 - - 4235_5:140516577-140516577 G>A_NGHLFALRSLDYKALQAFEFRVGAT 0.0 20:62321161-62321161 T>C 1.0 4196 COLORECTAL - - - - RTEL1 ENST00000360203,p.I695T|NM_032957,p.I719T|ENST00000482936,p.I695T|NM_016434,p.I695T|uc011abd.2,p.I719T|ENST00000508582,p.I719T|ENST00000425905,p.I88T|ENST00000492259,p.I723T|uc002yfu.2,p.I695T|NM_001283010,p.I472T|uc011abe.1,p.I472T|NM_001283009,p.I695T|ENST00000318100,p.I695T|ENST00000370018,p.I695T protein_coding, processed_transcript, nonsense_mediated_decay uc011abe.1 nonsynonymous SNV exon23 c.T1415C p.I472T YRQQASRAVNQAIGRVIRHRQDYGA YRQQASRAVNQATGRVIRHRQDYGA 9.0 7.0 - - 4196_20:62321161-62321161 T>C_YRQQASRAVNQATGRVIRHRQDYGA 0.0 6:100369042-100369042 G>A 0.0 2591 MELANOMA - - - - MCHR2 uc003pqh.1,p.P266L|NM_001040179,p.P266L|NM_032503,p.P266L|uc003pqi.1,p.P266L|ENST00000445970,p.P266L|ENST00000281806,p.P266L|ENST00000369212,p.P266L protein_coding uc003pqi.1 nonsynonymous SNV exon6 c.C797T p.P266L LVLVVVFILSAAPYHVIQLVNLQME LVLVVVFILSAALYHVIQLVNLQME 1.0 7.0 - - 2591_6:100369042-100369042 G>A_LVLVVVFILSAALYHVIQLVNLQME 0.0 4:157771520-157771520 C>T 1.0 4177 PANCREATIC - - - - PDGFC NM_016205,p.G56E|uc003iph.2,p.G56E|ENST00000422544,p.G56E|ENST00000502773,p.G56E protein_coding, processed_transcript, nonsense_mediated_decay uc003iph.2 nonsynonymous SNV exon2 c.G167A p.G56E PQHERIITVSTNGSIHSPRFPHTYP PQHERIITVSTNESIHSPRFPHTYP 9.0 6.0 - - 4177_4:157771520-157771520 C>T_PQHERIITVSTNESIHSPRFPHTYP 0.0 17:73265484-73265484 C>A 1.0 4287 COLORECTAL - - ID=COSM984335;OCCURENCE=1(endometrium) - MIF4GD uc002jnp.3,p.R43M|NM_001242500,p.R43M|ENST00000577542,p.R50M|uc002jnq.3,p.R50M|ENST00000245551,p.R43M|ENST00000579612,p.R43M|ENST00000579297,p.R50M|ENST00000579194,p.R50M|NM_001242498,p.R50M|NM_020679,p.R43M retained_intron, protein_coding uc002jnq.3 nonsynonymous SNV exon3 c.G149T p.R50M FETEDGEYSVCQRSYSNCSRLMPSR FETEDGEYSVCQMSYSNCSRLMPSR 8.0 8.0 - - 4287_17:73265484-73265484 C>A_FETEDGEYSVCQMSYSNCSRLMPSR 0.0 X:49845342-49845342 C>T 0.0 4298 COLORECTAL - - - - CLCN5 NM_000084,p.A162V|uc004doq.1,p.A232V|NM_001282163,p.A182V|uc004dot.1,p.A162V|ENST00000376108,p.A162V|uc031tjo.1,p.A182V|ENST00000307367,p.A162V|ENST00000376088,p.A232V|ENST00000376091,p.A232V|uc004dor.1,p.A232V|uc004dos.1,p.A162V|NM_001127898,p.A232V|NM_001127899,p.A232V protein_coding, processed_transcript uc031tjo.1 nonsynonymous SNV exon5 c.C545T p.A182V FAFLAVSLVKVFAPYACGSGIPEIK FAFLAVSLVKVFVPYACGSGIPEIK 5.0 8.0 - - 4298_X:49845342-49845342 C>T_FAFLAVSLVKVFVPYACGSGIPEIK 0.0 9:4118775-4118775 G>A 1.0 3713 MELANOMA - - - - GLIS3 uc010mhi.1,p.P42S|uc003zif.1,p.P13S|uc003zie.1,p.P235S|uc003zig.1,p.P79S|uc003zib.1,p.P79S|uc003zhy.1,p.P13S|NM_152629,p.P80S|ENST00000324333,p.P80S|uc003zhz.1,p.P13S|uc003zid.1,p.P13S|ENST00000381971,p.P235S|uc010mhg.1,p.P13S|uc003zic.1,p.P235S|uc003zih.1,p.P13S|uc003zhw.1,p.P80S|uc003zhx.1,p.P235S|uc010mhh.1,p.P110S|NM_001042413,p.P235S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010mhi.1 nonsynonymous SNV exon2 c.C124T p.P42S MKQEWSQGYRALPSLSNHGSQNGLD MKQEWSQGYRALSSLSNHGSQNGLD 1.0 9.0 - - 3713_9:4118775-4118775 G>A_MKQEWSQGYRALSSLSNHGSQNGLD 0.0 4:169227835-169227835 G>T 1.0 4095 COLORECTAL - - - - DDX60 ENST00000514995,p.L101I|ENST00000393743,p.L101I|NM_017631,p.L101I|uc003irp.3,p.L101I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003irp.3 nonsynonymous SNV exon5 c.C301A p.L101I DAEYAYFNFPELLSLRTALILHLQK DAEYAYFNFPELISLRTALILHLQK 8.0 3.0 - - 4095_4:169227835-169227835 G>T_DAEYAYFNFPELISLRTALILHLQK 0.0 19:12986985-12986985 G>T 1.0 4326 BREAST - - - - DNASE2 uc010xmr.1,p.S246Y|NM_001375,p.S301Y|ENST00000222219,p.S301Y|ENST00000538460,p.S246Y|uc002mvn.1,p.S301Y retained_intron, protein_coding uc010xmr.1 nonsynonymous SNV exon5 c.C737A p.S246Y FNSTEDHSKWCVSPKGPWTCVGDMN FNSTEDHSKWCVYPKGPWTCVGDMN 9.0 7.0 - - 4326_19:12986985-12986985 G>T_FNSTEDHSKWCVYPKGPWTCVGDMN 0.0 1:24175329-24175329 C>T 1.0 4326 BREAST - - - - FUCA1 ENST00000374479,p.E324K|uc001bie.3,p.E324K|NM_000147,p.E324K protein_coding uc001bie.3 nonsynonymous SNV exon6 c.G970A p.E324K LSDVTEESEIISELVQTVSLGGNYL LSDVTEESEIISKLVQTVSLGGNYL 9.0 9.0 - - 4326_1:24175329-24175329 C>T_LSDVTEESEIISKLVQTVSLGGNYL 0.0 17:62589659-62589659 C>T 1.0 3879 MELANOMA - - - - SMURF2 NM_022739,p.S78N|ENST00000262435,p.S78N|uc002jep.1,p.S78N|ENST00000585301,p.S65N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002jep.1 nonsynonymous SNV exon4 c.G233A p.S78N DLYIGKSDSVTISVWNHKKIHKKQG DLYIGKSDSVTINVWNHKKIHKKQG 8.0 8.0 - - 3879_17:62589659-62589659 C>T_DLYIGKSDSVTINVWNHKKIHKKQG 0.0 6:34802155-34802155 C>T 1.0 3716 MELANOMA - - - - UHRF1BP1 ENST00000452449,p.T167I|NM_017754,p.T167I|uc003oju.4,p.T167I|ENST00000192788,p.T167I protein_coding uc003oju.4 nonsynonymous SNV exon5 c.C500T p.T167I VNPNWQQSDLRLTRITDPCRGEVLT VNPNWQQSDLRLIRITDPCRGEVLT 6.0 3.0 - - 3716_6:34802155-34802155 C>T_VNPNWQQSDLRLIRITDPCRGEVLT 0.0 4:110606519-110606519 C>G 0.0 4266 COLORECTAL - - - - CCDC109B NM_017918,p.A310G|uc011cfs.2,p.A310G|ENST00000394650,p.A310G retained_intron, protein_coding, processed_transcript uc011cfs.2 nonsynonymous SNV exon7 c.C929G p.A310G DVQQYNKLKEDLAKAKESLKQARHS DVQQYNKLKEDLGKAKESLKQARHS 6.0 1.0 - - 4266_4:110606519-110606519 C>G_DVQQYNKLKEDLGKAKESLKQARHS 0.0 16:29974909-29974909 A>T 1.0 4245 COLORECTAL - - - - TMEM219 ENST00000414689,p.K118N|uc010bzk.1,p.K118N|uc002duy.2,p.K118N|ENST00000569445,p.K63N|ENST00000561899,p.K118N|NM_194280,p.K118N|ENST00000279396,p.K118N|ENST00000602948,p.K118N|ENST00000575829,p.K118N|NM_001083613,p.K118N|uc002duw.2,p.K118N|ENST00000566848,p.K118N protein_coding, nonsense_mediated_decay uc010bzk.1 nonsynonymous SNV exon3 c.A354T p.K118N FQATVLGSQMGLKGSSAGQLVLITA FQATVLGSQMGLNGSSAGQLVLITA 10.0 1.0 - - 4245_16:29974909-29974909 A>T_FQATVLGSQMGLNGSSAGQLVLITA 0.0 7:140453136-140453136 A>T 1.0 3998 MELANOMA - - ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system) 1 BRAF uc003vwc.4,p.V600E|ENST00000479537,p.V28E|ENST00000288602,p.V600E|NM_004333,p.V600E retained_intron, protein_coding, nonsense_mediated_decay uc003vwc.4 nonsynonymous SNV exon15 c.T1799A p.V600E LTVKIGDFGLATVKSRWSGSHQFEQ LTVKIGDFGLATEKSRWSGSHQFEQ 9.0 1.0 - - 3998_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ 0.0 2:204255788-204255788 A>C 1.0 4244 COLORECTAL - - - - ABI2 NM_001282925,p.K167T|ENST00000417864,p.K167T|uc002vaa.3,p.K167T|ENST00000295851,p.K167T|ENST00000422511,p.K167T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002vaa.3 nonsynonymous SNV exon5 c.A500C p.K167T WLLRFKVSTQNMKMGGLPRTTPPTQ WLLRFKVSTQNMTMGGLPRTTPPTQ 8.0 2.0 - - 4244_2:204255788-204255788 A>C_WLLRFKVSTQNMTMGGLPRTTPPTQ 0.0 1:157659596-157659596 C>T 0.0 4110 BILE DUCT - - - - FCRL3 uc001fra.3,p.R327K|ENST00000477837,p.R506K|uc001frb.3,p.R601K|uc001frc.1,p.R601K|ENST00000492769,p.R607K|uc001fqz.4,p.R601K|ENST00000485028,p.R601K|ENST00000368186,p.R601K|NM_052939,p.R601K|ENST00000368184,p.R601K protein_coding, processed_transcript, nonsense_mediated_decay uc001frc.1 nonsynonymous SNV exon10 c.G1802A p.R601K AAAALLHYARARRKPGGLSATGTSS AAAALLHYARARKKPGGLSATGTSS 2.0 5.0 - - 4110_1:157659596-157659596 C>T_AAAALLHYARARKKPGGLSATGTSS 0.0 15:78466831-78466831 G>A 0.0 4110 BILE DUCT - - - - ACSBG1 NM_001199377,p.P576S|ENST00000258873,p.P580S|ENST00000541759,p.P338S|uc002bdh.3,p.P580S|ENST00000560817,p.P338S|uc010umx.2,p.P338S|NM_015162,p.P580S|uc010umw.2,p.P576S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010umx.2 nonsynonymous SNV exon8 c.C1012T p.P338S ELIITAGGENVPPVPIEEAVKMELP ELIITAGGENVPSVPIEEAVKMELP 2.0 10.0 - - 4110_15:78466831-78466831 G>A_ELIITAGGENVPSVPIEEAVKMELP 0.0 10:25885710-25885710 G>A 1.0 3903 MELANOMA - - - - GPR158 ENST00000376351,p.D713N|NM_020752,p.D713N|uc001isk.3,p.D88N|uc001isj.3,p.D713N protein_coding, processed_transcript uc001isk.3 nonsynonymous SNV exon2 c.G262A p.D88N NSAWSEHSLDPEDIRDELKKLYAQL NSAWSEHSLDPENIRDELKKLYAQL 5.0 9.0 - - 3903_10:25885710-25885710 G>A_NSAWSEHSLDPENIRDELKKLYAQL 0.0 2:241494422-241494422 A>C 1.0 4316 COLORECTAL - - - - ANKMY1 ENST00000403283,p.L145R|NM_017844,p.L66R|NM_001282771,p.L66R|NM_001282781,p.L66R|ENST00000361678,p.L66R|uc010fzd.1,p.L66R|ENST00000536462,p.L19R|uc002vzd.1,p.L66R|uc002vzc.1,p.L66R|ENST00000441168,p.L19R|ENST00000406958,p.L66R|uc002vzb.1,p.L66R|NM_001282780,p.L66R|ENST00000401804,p.L66R|ENST00000405523,p.L66R|ENST00000373318,p.L66R|uc002vza.1,p.L66R retained_intron, protein_coding, processed_transcript uc010fzd.1 nonsynonymous SNV exon3 c.T197G p.L66R APEKEEEEAEGPLRAQDLRESYIQL APEKEEEEAEGPRRAQDLRESYIQL 9.0 7.0 - - 4316_2:241494422-241494422 A>C_APEKEEEEAEGPRRAQDLRESYIQL 0.0 9:104238518-104238518 C>T 0.0 4186 BREAST - - - - TMEM246 ENST00000374848,p.R286H|ENST00000374851,p.R286H|uc004bbm.3,p.R286H|ENST00000374847,p.R286H|NM_032342,p.R286H|uc022blf.1,p.R286H protein_coding, processed_transcript uc022blf.1 nonsynonymous SNV exon1 c.G857A p.R286H PLLTWIYMRFASRPGFSWPVMLFFS PLLTWIYMRFASHPGFSWPVMLFFS 1.0 10.0 - - 4186_9:104238518-104238518 C>T_PLLTWIYMRFASHPGFSWPVMLFFS 0.0 15:101432743-101432743 C>A 0.0 4346 COLORECTAL - - - - ALDH1A3 ENST00000561338,p.P97Q|ENST00000329841,p.P125Q|uc002bwn.4,p.P125Q|NM_000693,p.P125Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002bwn.4 nonsynonymous SNV exon4 c.C374A p.P125Q TLAALETMDTGKPFLHAFFIDLEGC TLAALETMDTGKQFLHAFFIDLEGC 4.0 7.0 - - 4346_15:101432743-101432743 C>A_TLAALETMDTGKQFLHAFFIDLEGC 0.0 5:140057599-140057599 T>A 1.0 4259 COLORECTAL - - - - HARS uc003lgv.4,p.D175V|NM_001289094,p.D146V|NM_001258040,p.D135V|uc011czm.3,p.D135V|ENST00000438307,p.D135V|NM_002109,p.D175V|ENST00000448240,p.D13V|ENST00000504366,p.D106V|ENST00000504156,p.D175V|uc003lgu.3,p.D106V retained_intron, protein_coding, nonsense_mediated_decay uc011czm.3 nonsynonymous SNV exon5 c.A404T p.D135V MTRGRYREFYQCDFDIAGNFDPMIP MTRGRYREFYQCVFDIAGNFDPMIP 10.0 6.0 - - 4259_5:140057599-140057599 T>A_MTRGRYREFYQCVFDIAGNFDPMIP 0.0 15:49170780-49170780 T>C 1.0 4326 BREAST - - - - EID1 uc001zxc.1,p.L136P|ENST00000530028,p.L136P|NM_014335,p.L136P|ENST00000560490,p.L114P protein_coding, processed_transcript uc001zxc.1 nonsynonymous SNV exon1 c.T407C p.L136P VSAALEEADKMFLRTREPALDGGFQ VSAALEEADKMFPRTREPALDGGFQ 9.0 9.0 - - 4326_15:49170780-49170780 T>C_VSAALEEADKMFPRTREPALDGGFQ 0.0 5:39119072-39119072 C>T 0.0 4258 ENDOMETRIAL - - - - FYB uc003jlu.3,p.G723R|NM_001465,p.G769R|ENST00000512982,p.G769R|ENST00000515010,p.G723R|uc011cpl.2,p.G779R|NM_001243093,p.G779R|uc003jls.3,p.G723R|ENST00000351578,p.G723R|ENST00000505428,p.G769R|ENST00000540520,p.G779R|NM_199335,p.G723R|uc003jlt.3,p.G769R protein_coding, processed_transcript uc011cpl.2 nonsynonymous SNV exon16 c.G2335A p.G779R TKVTTSITSKKWGTRDLQVKPGESL TKVTTSITSKKWRTRDLQVKPGESL 7.0 6.0 - - 4258_5:39119072-39119072 C>T_TKVTTSITSKKWRTRDLQVKPGESL 0.0 7:135262562-135262562 G>A 0.0 4345 COLORECTAL - - - - NUP205 ENST00000285968,p.E223K|NM_015135,p.E223K|uc003vsw.3,p.E223K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003vsw.3 nonsynonymous SNV exon6 c.G667A p.E223K EKHRKEVSDLIKECRQSLAESLFAW EKHRKEVSDLIKKCRQSLAESLFAW 8.0 6.0 - - 4345_7:135262562-135262562 G>A_EKHRKEVSDLIKKCRQSLAESLFAW 0.0 11:83984264-83984264 T>C 0.0 4346 COLORECTAL - - - - DLG2 uc010rsy.1,p.Y12C|ENST00000531015,p.Y12C|ENST00000529401,p.Y12C|NM_001142700,p.Y12C|ENST00000418306,p.Y12C|uc001pai.2,p.Y12C|uc010rtb.1,p.Y12C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010rtb.1 nonsynonymous SNV exon1 c.A35G p.Y12C MQRPSVSRAENYQLLWDTIASLKQ MQRPSVSRAENCQLLWDTIASLKQ 3.0 9.0 - - 4346_11:83984264-83984264 T>C_MQRPSVSRAENCQLLWDTIASLKQ 0.0 12:116446558-116446558 G>A 1.0 3466 MELANOMA - - - - MED13L uc001tvw.3,p.P554S|NM_015335,p.P554S|ENST00000281928,p.P554S retained_intron, protein_coding, processed_transcript uc001tvw.3 nonsynonymous SNV exon10 c.C1660T p.P554S LNPMDSPHSPISPLPPTLSPQPRGQ LNPMDSPHSPISSLPPTLSPQPRGQ 9.0 9.0 - - 3466_12:116446558-116446558 G>A_LNPMDSPHSPISSLPPTLSPQPRGQ 0.0 11:26656570-26656570 C>T 0.0 4301 MELANOMA - - - - ANO3 ENST00000537978,p.H650Y|uc010rds.2,p.H505Y|ENST00000525139,p.H650Y|uc010rdt.2,p.H520Y|ENST00000531568,p.H520Y|NM_031418,p.H666Y|uc010rdr.2,p.H650Y|uc001mqt.4,p.H666Y|ENST00000256737,p.H666Y protein_coding, processed_transcript uc010rdt.2 nonsynonymous SNV exon17 c.C1558T p.H520Y FYIAFFLGRFVGHPGKYNKLFDRWR FYIAFFLGRFVGYPGKYNKLFDRWR 2.0 6.0 - - 4301_11:26656570-26656570 C>T_FYIAFFLGRFVGYPGKYNKLFDRWR 0.0 2:27888105-27888105 G>A 1.0 2369 MELANOMA - - - - SLC4A1AP uc002rlk.4,p.E322K|ENST00000427424,p.E84K|ENST00000326019,p.E322K|NM_018158,p.E322K retained_intron, protein_coding, nonsense_mediated_decay uc002rlk.4 nonsynonymous SNV exon2 c.G964A p.E322K EDSDEEEEMDTSERKINAGSQDDEM EDSDEEEEMDTSKRKINAGSQDDEM 8.0 5.0 - - 2369_2:27888105-27888105 G>A_EDSDEEEEMDTSKRKINAGSQDDEM 0.0 9:131847564-131847564 C>T 1.0 3466 MELANOMA - - - - DOLPP1 NM_001135917,p.S114F|NM_020438,p.S114F|ENST00000406974,p.S114F|uc004bxc.3,p.S114F|ENST00000540102,p.S16F|ENST00000372546,p.S114F|uc004bxd.3,p.S114F protein_coding, processed_transcript, nonsense_mediated_decay uc004bxd.3 nonsynonymous SNV exon4 c.C341T p.S114F SHSQFMWFFSVYSFLFLYLRMHQTN SHSQFMWFFSVYFFLFLYLRMHQTN 5.0 9.0 - - 3466_9:131847564-131847564 C>T_SHSQFMWFFSVYFFLFLYLRMHQTN 0.0 16:84229288-84229288 C>T 0.0 4213 COLORECTAL - - - - ADAD2 uc002fhr.2,p.A346V|ENST00000315906,p.A346V|ENST00000268624,p.A428V|NM_001145400,p.A346V|uc002fhq.2,p.A428V|NM_139174,p.A428V retained_intron, protein_coding, processed_transcript uc002fhr.2 nonsynonymous SNV exon6 c.C1037T p.A346V FLHLYISNTPKGAARDIYLPPTSEG FLHLYISNTPKGVARDIYLPPTSEG 4.0 9.0 - - 4213_16:84229288-84229288 C>T_FLHLYISNTPKGVARDIYLPPTSEG 0.0 19:51650065-51650065 C>T 0.0 4245 COLORECTAL - - - - SIGLEC7 uc002pvw.1,p.A268V|uc002pvv.1,p.A361V|NM_016543,p.A268V|NM_014385,p.A361V|ENST00000305628,p.A268V|ENST00000317643,p.A361V retained_intron, protein_coding, nonsense_mediated_decay uc002pvw.1 nonsynonymous SNV exon4 c.C803T p.A268V SGVLLGAVGGAGATALVFLSFCVIF SGVLLGAVGGAGVTALVFLSFCVIF 6.0 5.0 - - 4245_19:51650065-51650065 C>T_SGVLLGAVGGAGVTALVFLSFCVIF 0.0 3:164907028-164907028 G>A 0.0 4278 COLORECTAL - - - - SLITRK3 ENST00000475390,p.R531W|uc003fek.3,p.R531W|uc003fej.4,p.R531W|NM_014926,p.R531W|uc021xgy.1,p.R531W|ENST00000241274,p.R531W protein_coding uc021xgy.1 nonsynonymous SNV exon1 c.C1591T p.R531W LPTDAFAGTSLARLNLRKNYFLYLP LPTDAFAGTSLAWLNLRKNYFLYLP 3.0 10.0 - - 4278_3:164907028-164907028 G>A_LPTDAFAGTSLAWLNLRKNYFLYLP 0.0 6:24569093-24569093 C>A 0.0 4258 ENDOMETRIAL - - - - KIAA0319 NM_001168375,p.V686L|uc010jpt.1,p.V97L|uc011djp.2,p.V641L|NM_001168376,p.V641L|ENST00000543707,p.V686L|ENST00000430948,p.V641L|uc003neh.1,p.V686L|NM_001252328,p.V97L|ENST00000535378,p.V677L|ENST00000378214,p.V686L|ENST00000537886,p.V686L|NM_001168377,p.V686L|uc011djr.1,p.V686L|uc011djo.2,p.V686L|NM_014809,p.V686L|NM_001168374,p.V677L|uc011djq.1,p.V677L protein_coding uc011djr.1 nonsynonymous SNV exon13 c.G2056T p.V686L IDKAIATVTGLQVGTYHFRLTVKDQ IDKAIATVTGLQLGTYHFRLTVKDQ 2.0 7.0 - - 4258_6:24569093-24569093 C>A_IDKAIATVTGLQLGTYHFRLTVKDQ 0.0 2:74757429-74757429 C>G 0.0 4186 BREAST - - - - HTRA2 uc002smj.1,p.S99C|ENST00000258080,p.S99C|NM_013247,p.S99C|uc002smi.1,p.S99C|NM_145074,p.S99C|uc002smk.1,p.S99C|ENST00000437202,p.S86C|uc002sml.1,p.S99C|ENST00000352222,p.S99C retained_intron, protein_coding, processed_transcript uc002sml.1 nonsynonymous SNV exon1 c.C296G p.S99C TPDTRTREASENSGTRSRAWLAVAL TPDTRTREASENCGTRSRAWLAVAL 9.0 8.0 - - 4186_2:74757429-74757429 C>G_TPDTRTREASENCGTRSRAWLAVAL 0.0 17:56700312-56700312 G>A 0.0 4158 COLORECTAL - - - - TEX14 uc010dcz.2,p.L105F|NM_198393,p.L105F|ENST00000240361,p.L105F|NM_031272,p.L105F|uc002iws.2,p.L105F|ENST00000389934,p.L105F|ENST00000349033,p.L105F|NM_001201457,p.L105F|uc002iwr.2,p.L105F protein_coding, processed_transcript, nonsense_mediated_decay uc010dcz.2 nonsynonymous SNV exon4 c.C313T p.L105F VHAAAFSGNQWILSKLLDAGGDLRL VHAAAFSGNQWIFSKLLDAGGDLRL 4.0 1.0 - - 4158_17:56700312-56700312 G>A_VHAAAFSGNQWIFSKLLDAGGDLRL 0.0 4:57211342-57211342 A>T 0.0 4345 COLORECTAL - - - - AASDH uc010ihb.3,p.L383H|ENST00000434343,p.L383H|NM_181806,p.L868H|uc003hbn.3,p.L868H|uc003hbo.3,p.L768H|NM_001286669,p.L715H|ENST00000513376,p.L768H|ENST00000205214,p.L868H|NM_001286668,p.L768H|uc011cab.2,p.L383H|NM_001286670,p.L383H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cab.2 nonsynonymous SNV exon9 c.T1148A p.L383H VKSSATMDPTTGLIYIGSHDQHAYA VKSSATMDPTTGHIYIGSHDQHAYA 6.0 3.0 - - 4345_4:57211342-57211342 A>T_VKSSATMDPTTGHIYIGSHDQHAYA 0.0 16:4924857-4924857 A>G 1.0 3919 MELANOMA - - - - UBN1 ENST00000545171,p.N816D|ENST00000590769,p.N816D|ENST00000262376,p.N816D|uc002cyc.3,p.N816D|NM_001288656,p.N816D|NM_001079514,p.N816D|ENST00000396658,p.N816D|uc010uxw.2,p.N816D|uc002cyb.3,p.N816D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010uxw.2 nonsynonymous SNV exon15 c.A2446G p.N816D VKVFHAGTQQQKNFTPPSPFANKLQ VKVFHAGTQQQKDFTPPSPFANKLQ 9.0 2.0 - - 3919_16:4924857-4924857 A>G_VKVFHAGTQQQKDFTPPSPFANKLQ 0.0 15:89395072-89395072 A>T 0.0 4110 BILE DUCT - - - - ACAN ENST00000561243,p.T692S|NM_013227,p.T692S|ENST00000439576,p.T692S|uc010upp.1,p.T692S|ENST00000559004,p.T692S|uc010upo.1,p.T692S|ENST00000352105,p.T692S|NM_001135,p.T692S retained_intron, protein_coding uc010upp.1 nonsynonymous SNV exon11 c.A2074T p.T692S VPSPGEEEGGTPTSPSGVEEWIVTQ VPSPGEEEGGTPSSPSGVEEWIVTQ 3.0 5.0 - - 4110_15:89395072-89395072 A>T_VPSPGEEEGGTPSSPSGVEEWIVTQ 0.0 1:110714807-110714807 C>T 0.0 4259 COLORECTAL - - - - SLC6A17 NM_001010898,p.R138C|uc009wfq.3,p.R138C|ENST00000331565,p.R138C protein_coding, processed_transcript uc009wfq.3 nonsynonymous SNV exon3 c.C412T p.R138C RGSIGVWHYICPRLGGIGFSSCIVC RGSIGVWHYICPCLGGIGFSSCIVC 3.0 9.0 - - 4259_1:110714807-110714807 C>T_RGSIGVWHYICPCLGGIGFSSCIVC 0.0 5:140503307-140503307 C>T 0.0 4301 MELANOMA - - - - PCDHB4 uc003lip.1,p.P576L|NM_018938,p.P576L|ENST00000194152,p.P576L protein_coding uc003lip.1 nonsynonymous SNV exon1 c.C1727T p.P576L LQNGSAPCTELVPRAAEPGYLVTKV LQNGSAPCTELVLRAAEPGYLVTKV 4.0 7.0 - - 4301_5:140503307-140503307 C>T_LQNGSAPCTELVLRAAEPGYLVTKV 0.0 9:138379968-138379968 C>A 0.0 4335 COLORECTAL - - - - PPP1R26 ENST00000356818,p.S1204R|ENST00000401470,p.S1204R|uc004cfr.1,p.S1204R|ENST00000604351,p.S1204R|uc022bpi.1,p.S1204R|NM_014811,p.S1204R|ENST00000605286,p.S1204R|ENST00000605660,p.S1204R protein_coding uc022bpi.1 nonsynonymous SNV exon1 c.C3612A p.S1204R DFSDTSTEDSGGSSVVKV DFSDTSTEDSGGRSVVKV 5.0 1.0 - - 4335_9:138379968-138379968 C>A_DFSDTSTEDSGGRSVVKV 0.0 4:104640742-104640742 C>T 0.0 4278 COLORECTAL - - - - TACR3 NM_001059,p.G31R|uc003hxe.1,p.G31R|ENST00000304883,p.G31R protein_coding uc003hxe.1 nonsynonymous SNV exon1 c.G91A p.G31R ADAVNLTASLAAGAATGAVETGWLQ ADAVNLTASLAARAATGAVETGWLQ 5.0 3.0 - - 4278_4:104640742-104640742 C>T_ADAVNLTASLAARAATGAVETGWLQ 0.0 13:103703697-103703697 G>T 0.0 4246 COLORECTAL - - - - SLC10A2 ENST00000245312,p.P224H|uc001vpy.4,p.P224H|NM_000452,p.P224H protein_coding uc001vpy.4 nonsynonymous SNV exon4 c.C671A p.P224H GGILYQSAWIIAPKLWIIGTIFPVA GGILYQSAWIIAHKLWIIGTIFPVA 1.0 9.0 - - 4246_13:103703697-103703697 G>T_GGILYQSAWIIAHKLWIIGTIFPVA 0.0 1:186326733-186326733 A>G 1.0 4196 COLORECTAL - - - 1 TPR NM_003292,p.L507P|uc010pop.2,p.L583P|ENST00000367478,p.L507P|uc001grv.3,p.L507P retained_intron, protein_coding, processed_transcript uc010pop.2 nonsynonymous SNV exon15 c.T1748C p.L583P DLSQQIRVLLMELEEARGNHVIRDE DLSQQIRVLLMEPEEARGNHVIRDE 10.0 3.0 - - 4196_1:186326733-186326733 A>G_DLSQQIRVLLMEPEEARGNHVIRDE 0.0 5:32276848-32276848 C>T 0.0 4298 COLORECTAL - - - - MTMR12 NM_001294344,p.E28K|uc003jhq.3,p.E28K|NM_001040446,p.E28K|ENST00000280285,p.E28K|ENST00000264934,p.E28K|uc010iul.3,p.E28K|ENST00000382142,p.E28K|uc010iuk.3,p.E28K|NM_001294343,p.E28K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010iul.3 nonsynonymous SNV exon2 c.G82A p.E28K PKPSFVSYVRPEEIHTNEKEVTEKE PKPSFVSYVRPEKIHTNEKEVTEKE 7.0 5.0 - - 4298_5:32276848-32276848 C>T_PKPSFVSYVRPEKIHTNEKEVTEKE 0.0 15:52416716-52416716 G>A 1.0 3784 MELANOMA - - - - GNB5 uc002abr.1,p.P335L|uc002abt.1,p.P377L|ENST00000396335,p.P265L|uc002abs.1,p.P265L|ENST00000261837,p.P377L|ENST00000358784,p.P335L|NM_016194,p.P377L|NM_006578,p.P335L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002abt.1 nonsynonymous SNV exon12 c.C1130T p.P377L GHENRVSTLRVSPDGTAFCSGSWDH GHENRVSTLRVSLDGTAFCSGSWDH 5.0 6.0 CD8 - 3784_15:52416716-52416716 G>A_GHENRVSTLRVSLDGTAFCSGSWDH 1.0 13:101264662-101264662 T>C 0.0 4335 COLORECTAL - - - - TMTC4 ENST00000376234,p.Q666R|NM_001286453,p.Q555R|ENST00000342624,p.Q685R|ENST00000328767,p.Q555R|uc010tja.2,p.Q555R|uc001vot.3,p.Q685R|NM_001079669,p.Q666R|NM_032813,p.Q685R|uc001vou.3,p.Q666R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010tja.2 nonsynonymous SNV exon14 c.A1664G p.Q555R LMFSLANVLGKSQKYKESEALFLKA LMFSLANVLGKSRKYKESEALFLKA 7.0 3.0 - - 4335_13:101264662-101264662 T>C_LMFSLANVLGKSRKYKESEALFLKA 0.0 3:10379973-10379973 C>T 0.0 2591 MELANOMA - - - - ATP2B2 NM_001683,p.E1058K|NM_001001331,p.E1103K|uc003bvt.3,p.E1103K|ENST00000383800,p.E1058K|ENST00000397077,p.E1058K|uc003bvv.3,p.E1058K|uc003bvw.3,p.E1058K|ENST00000352432,p.E1103K|ENST00000452124,p.E959K|ENST00000343816,p.E1089K|uc010hdo.3,p.E808K|ENST00000460129,p.E1058K|ENST00000360273,p.E1103K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010hdo.3 nonsynonymous SNV exon18 c.G2422A p.E808K FLKEAGRLTQKEEIPEEELNEDVEE FLKEAGRLTQKEKIPEEELNEDVEE 1.0 9.0 - - 2591_3:10379973-10379973 C>T_FLKEAGRLTQKEKIPEEELNEDVEE 0.0 1:36784695-36784695 T>G 1.0 4335 COLORECTAL - - - - SH3D21 NM_001162530,p.L265V|uc010oia.1,p.L265V|ENST00000480549,p.L105V|ENST00000505871,p.L154V|ENST00000373139,p.L265V|ENST00000426732,p.L149V|NM_024676,p.L154V|ENST00000453908,p.L265V|uc010oib.1,p.L154V protein_coding, processed_transcript, nonsense_mediated_decay uc010oib.1 nonsynonymous SNV exon8 c.T460G p.L154V SRESAPIKEPKKLMPKTSLPTVKKL SRESAPIKEPKKVMPKTSLPTVKKL 7.0 5.0 - - 4335_1:36784695-36784695 T>G_SRESAPIKEPKKVMPKTSLPTVKKL 0.0 2:179398057-179398057 C>T 0.0 2591 MELANOMA - - - - TTN NM_133378,p.E31861K|uc031rqc.1,p.E34429K|NM_003319,p.E25364K|ENST00000359218,p.E25489K|NM_001256850,p.E32788K|uc031rqd.1,p.E32788K|uc021vtb.2,p.E25364K|uc021vsy.2,p.E31861K|NM_133437,p.E25556K|ENST00000460472,p.E25364K|uc021vta.2,p.E25489K|NM_133432,p.E25489K|NM_001267550,p.E34429K|uc021vsz.2,p.E25556K|ENST00000342992,p.E31861K|ENST00000342175,p.E25556K retained_intron, protein_coding uc031rqd.1 nonsynonymous SNV exon308 c.G98362A p.E32788K DYYALHIRDTLPEDTGYYRVTATNT DYYALHIRDTLPKDTGYYRVTATNT 1.0 5.0 - - 2591_2:179398057-179398057 C>T_DYYALHIRDTLPKDTGYYRVTATNT 0.0 10:114912188-114912188 C>T 1.0 4196 COLORECTAL - - ID=COSM1560963,COSM1560962,COSM1560964;OCCURENCE=1(large_intestine) 1 TCF7L2 uc010qrm.2,p.R420W|ENST00000538897,p.R420W|uc010qrx.2,p.R277W|uc021pyj.1,p.R420W|ENST00000470254,p.R51W|ENST00000369389,p.R131W|ENST00000545257,p.R420W|ENST00000543371,p.R420W|uc001laf.4,p.R397W|ENST00000536810,p.R420W|uc010qrk.2,p.R397W|ENST00000542695,p.R136W|uc001lac.4,p.R397W|NM_001146286,p.R397W|NM_001198529,p.R397W|NM_001146284,p.R393W|ENST00000355717,p.R444W|NM_001198526,p.R397W|uc021pyg.1,p.R136W|uc021pyi.1,p.R420W|uc001lah.3,p.R402W|ENST00000277945,p.R137W|uc010qrv.2,p.R237W|uc021pyo.1,p.R425W|ENST00000534894,p.R420W|NM_001198530,p.R363W|uc001lag.4,p.R444W|NM_001198531,p.R420W|ENST00000369386,p.R63W|uc010qrt.2,p.R291W|uc010qrr.2,p.R335W|NM_001146283,p.R444W|uc021pyl.1,p.R402W|NM_001198528,p.R397W|uc021pyh.1,p.R402W|ENST00000352065,p.R397W|uc010qru.2,p.R319W|uc021pyp.1,p.R416W|uc010qrq.2,p.R393W|NM_001198527,p.R393W|uc001lad.4,p.R393W|uc010qrp.2,p.R397W|uc021pym.1,p.R393W|ENST00000355995,p.R420W|uc010qrl.2,p.R397W|ENST00000369397,p.R397W|uc021pyk.1,p.R402W|NM_030756,p.R397W|uc010qrn.2,p.R363W|uc010qro.2,p.R397W|uc010qrw.2,p.R124W|NM_001198525,p.R402W|uc021pyn.1,p.R425W|NM_001146274,p.R420W|NM_001146285,p.R397W|uc001lae.4,p.R420W|uc010qrs.2,p.R291W protein_coding, processed_transcript, nonsense_mediated_decay uc021pyp.1 nonsynonymous SNV exon11 c.C1246T p.R416W QLHMQLYPGWSARDNYGKKKKRKRD QLHMQLYPGWSAWDNYGKKKKRKRD 10.0 9.0 - - 4196_10:114912188-114912188 C>T_QLHMQLYPGWSAWDNYGKKKKRKRD 0.0 4:110394181-110394181 C>T 1.0 4000 MELANOMA - - - - SEC24B NM_001042734,p.P300L|ENST00000399100,p.P300L|uc003hzk.3,p.P300L|ENST00000265175,p.P300L|ENST00000504968,p.P331L|NM_001300813,p.P331L|uc003hzl.3,p.P300L|uc011cfq.2,p.P300L|uc011cfp.2,p.P331L|NM_006323,p.P300L|uc011cfr.2,p.P300L protein_coding uc011cfr.2 nonsynonymous SNV exon3 c.C899T p.P300L NPTITVADSLSCPVMQNVQPPKSSP NPTITVADSLSCLVMQNVQPPKSSP 9.0 2.0 - - 4000_4:110394181-110394181 C>T_NPTITVADSLSCLVMQNVQPPKSSP 0.0 14:100795800-100795800 G>A 0.0 4266 COLORECTAL - - - - SLC25A47 uc001yhc.3,p.G249R|ENST00000557052,p.G103R|NM_207117,p.G249R|uc001yhd.3,p.G103R|ENST00000361529,p.G249R protein_coding uc001yhd.3 nonsynonymous SNV exon6 c.G307A p.G103R PMDVIKSRLQADGQGQRRYRGLLHC PMDVIKSRLQADRQGQRRYRGLLHC 4.0 7.0 - - 4266_14:100795800-100795800 G>A_PMDVIKSRLQADRQGQRRYRGLLHC 0.0 6:46661197-46661197 G>A 0.0 4301 MELANOMA - - - - TDRD6 NM_001168359,p.E1778K|ENST00000544460,p.E1778K|ENST00000316081,p.E1778K|uc003oyj.3,p.E1778K|uc010jze.3,p.E1778K|NM_001010870,p.E1778K protein_coding uc010jze.3 nonsynonymous SNV exon1 c.G5332A p.E1778K SNFRDPKTDNICEGFENPCKDKIDT SNFRDPKTDNICKGFENPCKDKIDT 4.0 3.0 - - 4301_6:46661197-46661197 G>A_SNFRDPKTDNICKGFENPCKDKIDT 0.0 12:11214097-11214097 G>C 0.0 4316 COLORECTAL - - - - TAS2R46 ENST00000533467,p.A266G|uc001qzp.1,p.A266G|NM_176887,p.A266G protein_coding uc001qzp.1 nonsynonymous SNV exon1 c.C797G p.A266G SLENKPVFMFCEAIAFSYPSTHPFI SLENKPVFMFCEGIAFSYPSTHPFI 3.0 10.0 - - 4316_12:11214097-11214097 G>C_SLENKPVFMFCEGIAFSYPSTHPFI 0.0 11:134131235-134131235 A>C 0.0 3795 MELANOMA - - - - ACAD8 ENST00000543332,p.K205T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000543332 nonsynonymous SNV exon7 c.A614C p.K205T SVILTRDHLNVRKQFGEPLASNQKK SVILTRDHLNVRTQFGEPLASNQKK 6.0 1.0 - - 3795_11:134131235-134131235 A>C_SVILTRDHLNVRTQFGEPLASNQKK 0.0 1:75172036-75172036 G>A 1.0 4000 MELANOMA - - - - CRYZ NM_001130042,p.H312Y|NM_001130043,p.H278Y|NM_001889,p.H312Y|NM_001134759,p.H175Y|uc001dgm.3,p.H175Y|ENST00000370871,p.H278Y|ENST00000417775,p.H312Y|ENST00000340866,p.H312Y|uc001dgk.3,p.H312Y|uc001dgl.3,p.H278Y|uc001dgj.3,p.H312Y|ENST00000370872,p.H175Y protein_coding, processed_transcript uc001dgm.3 nonsynonymous SNV exon7 c.C523T p.H175Y GSQYPLEKVAEAHENIIHGSGATGK GSQYPLEKVAEAYENIIHGSGATGK 7.0 7.0 - - 4000_1:75172036-75172036 G>A_GSQYPLEKVAEAYENIIHGSGATGK 0.0 5:131877804-131877804 C>T 0.0 4278 COLORECTAL - - - - IL5 NM_000879,p.G70E|ENST00000450655,p.G36E|uc003kxe.1,p.G70E|ENST00000231454,p.G70E retained_intron, protein_coding uc003kxe.1 nonsynonymous SNV exon3 c.G209A p.G70E KNHQLCTEEIFQGIGTLESQTVQGG KNHQLCTEEIFQEIGTLESQTVQGG 2.0 1.0 - - 4278_5:131877804-131877804 C>T_KNHQLCTEEIFQEIGTLESQTVQGG 0.0 1:245809494-245809494 G>C 1.0 4237 NSCLC - - - - KIF26B ENST00000366518,p.E343Q|uc010pyq.1,p.E724Q|ENST00000407071,p.E724Q|uc001ibg.1,p.E342Q|uc001ibf.1,p.E724Q|NM_018012,p.E724Q retained_intron, protein_coding, processed_transcript uc010pyq.1 nonsynonymous SNV exon10 c.G2170C p.E724Q LGSCVKALSKNREGGSGLCLSLSAL LGSCVKALSKNRQGGSGLCLSLSAL 7.0 8.0 - - 4237_1:245809494-245809494 G>C_LGSCVKALSKNRQGGSGLCLSLSAL 0.0 19:4670266-4670266 C>G 0.0 3775 CERVICAL - - - - C19orf10 NM_019107,p.R27S|uc002may.3,p.R27S|ENST00000599630,p.R27S|ENST00000262947,p.R27S retained_intron, protein_coding uc002may.3 nonsynonymous SNV exon1 c.G81C p.R27S LWAALLLGAVALRPAEAVSEPTTVA LWAALLLGAVALSPAEAVSEPTTVA 10.0 2.0 - - 3775_19:4670266-4670266 C>G_LWAALLLGAVALSPAEAVSEPTTVA 0.0 10:49459678-49459678 G>T 0.0 4284 COLORECTAL - - - - FRMPD2 uc001jgi.3,p.L28M|uc001jgj.3,p.L19M|ENST00000407470,p.L19M|ENST00000305531,p.L26M|NM_001018071,p.L28M|ENST00000374201,p.L28M|uc001jgh.3,p.L19M retained_intron, protein_coding, processed_transcript uc001jgj.3 nonsynonymous SNV exon2 c.C55A p.L19M TLASALQVRGEALSEEEIWSLLFLA TLASALQVRGEAMSEEEIWSLLFLA 7.0 8.0 - - 4284_10:49459678-49459678 G>T_TLASALQVRGEAMSEEEIWSLLFLA 0.0 12:112491379-112491379 ->A 0.0 4335 COLORECTAL - - ID=COSM1358815;OCCURENCE=1(large_intestine) - NAA25 uc009zwa.2,p.H571fs|ENST00000261745,p.H571fs|uc009zvz.2,p.H543fs|uc001ttm.3,p.H571fs|NM_024953,p.H571fs retained_intron, protein_coding, nonsense_mediated_decay uc009zwa.2 frameshift insertion exon15 c.1710dupT p.H571fs ASQSCNFALRFFHSNQKDTSEYIIQ ASQSCNFALRFFSLQPERYLRIYYSSLQIWCI 6.0 7.0 - - 4335_12:112491379-112491379 ->A_ASQSCNFALRFFSLQPERYLRIYYSSLQIWCI 0.0 19:8322827-8322827 C>T 1.0 3713 MELANOMA - - ID=COSM1661111;OCCURENCE=1(kidney) - CERS4 ENST00000559450,p.S269F|uc002mji.3,p.S105F|NM_024552,p.S269F|ENST00000558331,p.S218F|ENST00000251363,p.S269F|uc002mjg.3,p.S269F retained_intron, protein_coding, processed_transcript uc002mji.3 nonsynonymous SNV exon11 c.C314T p.S105F YQQVCDALFLIFSFVFFYTRLVLFP YQQVCDALFLIFFFVFFYTRLVLFP 9.0 10.0 - - 3713_19:8322827-8322827 C>T_YQQVCDALFLIFFFVFFYTRLVLFP 0.0 11:58491903-58491903 G>T 0.0 4129 NSCLC - - - - GLYAT ENST00000529732,p.P23T|uc001nnc.3,p.P23T|ENST00000344743,p.P23T|ENST00000278400,p.P23T|NM_005838,p.P23T|uc001nnb.3,p.P23T|NM_201648,p.P23T retained_intron, protein_coding uc001nnc.3 nonsynonymous SNV exon2 c.C67A p.P23T LQMLEKSLRKSLPASLKVYGTVFHI LQMLEKSLRKSLTASLKVYGTVFHI 1.0 8.0 - - 4129_11:58491903-58491903 G>T_LQMLEKSLRKSLTASLKVYGTVFHI 0.0 5:140869936-140869936 C>T 0.0 4235 COLORECTAL 0.0 - - - PCDHGC5 NM_032407,p.R377W|uc011dbc.2,p.R377W|ENST00000252087,p.R377W|NM_018929,p.R377W|uc003lla.2,p.R377W protein_coding uc011dbc.2 nonsynonymous SNV exon1 c.C1129T p.R377W VGTVVGLFNVRDRDSGRNGEVSLDI VGTVVGLFNVRDWDSGRNGEVSLDI 3.0 9.0 - - 4235_5:140869936-140869936 C>T_VGTVVGLFNVRDWDSGRNGEVSLDI 0.0 7:97487649-97487649 G>A 0.0 4155 MELANOMA - - - - ASNS NM_133436,p.P282S|ENST00000422745,p.P261S|ENST00000394308,p.P282S|NM_001178077,p.P199S|uc003uox.4,p.P199S|ENST00000175506,p.P282S|ENST00000437628,p.P199S|uc003uov.4,p.P282S|NM_001178075,p.P261S|uc003uou.4,p.P282S|NM_001673,p.P282S|uc003uot.4,p.P282S|ENST00000455086,p.P199S|NM_183356,p.P282S|ENST00000454046,p.P282S|ENST00000444334,p.P261S|ENST00000394309,p.P282S|uc011kin.2,p.P199S|uc011kio.2,p.P261S|NM_001178076,p.P199S retained_intron, protein_coding, nonsense_mediated_decay uc011kio.2 nonsynonymous SNV exon7 c.C781T p.P261S LLKQLKEAQVQYPLQTFAIGMEDSP LLKQLKEAQVQYSLQTFAIGMEDSP 8.0 1.0 - - 4155_7:97487649-97487649 G>A_LLKQLKEAQVQYSLQTFAIGMEDSP 0.0 19:55107923-55107923 C>T 0.0 4240 BREAST - - ID=COSM3797517;OCCURENCE=2(urinary_tract) - LILRA1 uc002qgh.2,p.H410Y|NM_001278319,p.H410Y|NM_006863,p.H410Y|uc010yfh.2,p.H410Y|ENST00000251372,p.H410Y retained_intron, protein_coding, processed_transcript uc010yfh.2 nonsynonymous SNV exon6 c.C1228T p.H410Y YGSLSSNPYLLSHPSDSLELMVSGA YGSLSSNPYLLSYPSDSLELMVSGA 2.0 10.0 - - 4240_19:55107923-55107923 C>T_YGSLSSNPYLLSYPSDSLELMVSGA 0.0 6:54173655-54173655 C>A 0.0 3795 MELANOMA - - - - TINAG ENST00000370864,p.R85S|ENST00000259782,p.R103S|uc003pcj.2,p.R103S|NM_014464,p.R103S|ENST00000370869,p.R99S|uc003pci.3,p.R103S protein_coding, processed_transcript uc003pcj.2 nonsynonymous SNV exon1 c.C307A p.R103S NSDCCPDYKSFCREEKEWPPHTQPW NSDCCPDYKSFCSEEKEWPPHTQPW 2.0 7.0 - - 3795_6:54173655-54173655 C>A_NSDCCPDYKSFCSEEKEWPPHTQPW 0.0 2:128386066-128386066 A>G 1.0 4281 COLORECTAL - - - - MYO7B ENST00000409090,p.E354G|ENST00000389524,p.E1501G|uc002tor.1,p.E354G|NM_001080527,p.E1501G|ENST00000428314,p.E1501G|ENST00000409816,p.E1501G|uc002top.3,p.E1501G retained_intron, protein_coding uc002tor.1 nonsynonymous SNV exon8 c.A1061G p.E354G AELVALFLEGLKERSIFAMALQDRK AELVALFLEGLKGRSIFAMALQDRK 8.0 5.0 - - 4281_2:128386066-128386066 A>G_AELVALFLEGLKGRSIFAMALQDRK 0.0 20:30897865-30897873 TGGACAAAC>- 1.0 4326 BREAST - - - - KIF3B uc010ztv.2,p.95_98del|uc010ztw.2,p.95_98del|ENST00000375712,p.95_98del|uc002wxq.3,p.95_98del|NM_004798,p.95_98del protein_coding uc010ztw.2 nonframeshift deletion exon1 c.285_293del p.95_98del SVLQGFNGTIFAYGQTGTGKTYTMEG SVLQGFNGTIFAYGTGKTYTMEGIR 7.0 3.0 - - 4326_20:30897865-30897873 TGGACAAAC>-_SVLQGFNGTIFAYGTGKTYTMEGIR 0.0 16:58592488-58592488 C>T 1.0 3919 MELANOMA - - - - CNOT1 uc002enz.2,p.G170S|ENST00000441024,p.G741S|ENST00000317147,p.G741S|ENST00000567188,p.G741S|uc002enu.5,p.G741S|ENST00000569882,p.G151S|NM_016284,p.G741S|uc002enx.4,p.G741S|NM_206999,p.G741S|uc002env.4,p.G741S|NM_001265612,p.G741S|ENST00000569240,p.G741S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002enz.2 nonsynonymous SNV exon9 c.G508A p.G170S HTQSMQGFPPNLGSAFSTPQSPAKA HTQSMQGFPPNLSSAFSTPQSPAKA 9.0 2.0 - - 3919_16:58592488-58592488 C>T_HTQSMQGFPPNLSSAFSTPQSPAKA 0.0 8:145692885-145692885 G>A 1.0 3903 MELANOMA - - - - KIFC2 uc003zcz.3,p.E163K|NM_145754,p.E163K|ENST00000301332,p.E163K retained_intron, protein_coding, processed_transcript uc003zcz.3 nonsynonymous SNV exon5 c.G487A p.E163K RPPSPDGSTSQEESPSHFTAVPGEP RPPSPDGSTSQEKSPSHFTAVPGEP 8.0 1.0 - - 3903_8:145692885-145692885 G>A_RPPSPDGSTSQEKSPSHFTAVPGEP 0.0 3:10970946-10970946 G>A 0.0 4266 COLORECTAL - - ID=COSM1642045;OCCURENCE=1(stomach) - SLC6A11 ENST00000254488,p.R431Q|NM_014229,p.R431Q|uc003bvz.3,p.R431Q retained_intron, protein_coding uc003bvz.3 nonsynonymous SNV exon10 c.G1292A p.R431Q VTAVVDMYPKVFRRGYRRELLILAL VTAVVDMYPKVFQRGYRRELLILAL 1.0 6.0 - - 4266_3:10970946-10970946 G>A_VTAVVDMYPKVFQRGYRRELLILAL 0.0 X:27766454-27766454 G>T 0.0 4078 GASTRIC - - - - DCAF8L2 uc011mjy.2,p.R481M|ENST00000451261,p.R481M|NM_001136533,p.R481M protein_coding, processed_transcript uc011mjy.2 nonsynonymous SNV exon1 c.G1442T p.R481M NTTVKGVNFYGPRSEFVVSGSDCGH NTTVKGVNFYGPMSEFVVSGSDCGH 1.0 10.0 - - 4078_X:27766454-27766454 G>T_NTTVKGVNFYGPMSEFVVSGSDCGH 0.0 X:32827726-32827726 G>T 0.0 4346 COLORECTAL - - - - DMD NM_004010,p.P55Q|ENST00000288447,p.P170Q|uc004dcy.1,p.P174Q|ENST00000378677,p.P174Q|uc004ddb.1,p.P170Q|uc004dcz.2,p.P55Q|uc004ddf.3,p.P170Q|NM_000109,p.P170Q|uc004dda.1,p.P178Q|ENST00000357033,p.P178Q|NM_004009,p.P174Q|NM_004006,p.P178Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004ddf.3 nonsynonymous SNV exon7 c.C509A p.P170Q GLALNALIHSHRPDLFDWNSVVCQQ GLALNALIHSHRQDLFDWNSVVCQQ 9.0 1.0 - - 4346_X:32827726-32827726 G>T_GLALNALIHSHRQDLFDWNSVVCQQ 0.0 12:19646803-19646803 T>G 1.0 4320 COLORECTAL - - - - AEBP2 uc001ref.2,p.F353V|NM_001267043,p.F137V|ENST00000541908,p.F124V|uc001ree.2,p.F353V|ENST00000360995,p.F137V|ENST00000266508,p.F353V|NM_001114176,p.F353V|uc001reg.2,p.F137V|NM_153207,p.F353V|ENST00000398864,p.F353V protein_coding uc001reg.2 nonsynonymous SNV exon4 c.T409G p.F137V SQGGLARHVPTHFSQQNSSKVSSQP SQGGLARHVPTHVSQQNSSKVSSQP 8.0 2.0 - - 4320_12:19646803-19646803 T>G_SQGGLARHVPTHVSQQNSSKVSSQP 0.0 15:40750688-40750688 C>T 1.0 3713 MELANOMA - - - - BAHD1 NM_014952,p.L9F|uc001zlv.2,p.L9F|uc001zlt.2,p.L9F|ENST00000416165,p.L9F|ENST00000561234,p.L9F|uc010bbp.1,p.L9F|ENST00000560846,p.L9F|uc001zlu.2,p.L9F|NM_001301132,p.L9F retained_intron, protein_coding uc010bbp.1 nonsynonymous SNV exon2 c.C25T p.L9F MTHTRRKSLPMLSSGLTGRRE MTHTRRKSFPMLSSGLTGRRE 4.0 10.0 - - 3713_15:40750688-40750688 C>T_MTHTRRKSFPMLSSGLTGRRE 0.0 4:183601828-183601828 G>A 0.0 4258 ENDOMETRIAL - - - - TENM3 uc003ivd.1,p.G591E|ENST00000511685,p.G591E|NM_001080477,p.G591E|ENST00000406950,p.G591E retained_intron, protein_coding, processed_transcript uc003ivd.1 nonsynonymous SNV exon9 c.G1772A p.G591E TTQCIDPQCGGRGICIMGSCACNSG TTQCIDPQCGGREICIMGSCACNSG 6.0 4.0 - - 4258_4:183601828-183601828 G>A_TTQCIDPQCGGREICIMGSCACNSG 0.0 2:237233383-237233383 G>A 0.0 4081 COLORECTAL - - - - IQCA1 uc002vwb.3,p.A814V|uc010zni.2,p.A765V|NM_024726,p.A806V|NM_001270584,p.A765V|ENST00000309507,p.A803V|uc002vvz.2,p.A806V|ENST00000431676,p.A765V|ENST00000409907,p.A806V|NM_001270585,p.A814V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010zni.2 nonsynonymous SNV exon18 c.C2294T p.A765V YAKTPLGKKRALAITGGSTEKAKDK YAKTPLGKKRALVITGGSTEKAKDK 2.0 5.0 - - 4081_2:237233383-237233383 G>A_YAKTPLGKKRALVITGGSTEKAKDK 0.0 17:80443426-80443426 G>A 1.0 4252 COLORECTAL - - - - NARF uc002kff.4,p.R283H|ENST00000309794,p.R342H|NM_001038618,p.R283H|uc002kfg.4,p.R342H|uc002kfj.4,p.R294H|NM_001083608,p.R294H|ENST00000457415,p.R388H|ENST00000390006,p.R283H|ENST00000345415,p.R294H|NM_012336,p.R342H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002kfj.4 nonsynonymous SNV exon9 c.G881A p.R294H EVTLEKNGEVVLRFAAAYGFRNIQN EVTLEKNGEVVLHFAAAYGFRNIQN 10.0 5.0 - - 4252_17:80443426-80443426 G>A_EVTLEKNGEVVLHFAAAYGFRNIQN 0.0 11:73760453-73760453 G>A 0.0 4155 MELANOMA - - ID=COSM364990,COSM364991;OCCURENCE=1(lung) - C2CD3 NM_015531,p.P1764S|uc001ouu.2,p.P1764S|ENST00000442398,p.P520S|ENST00000334126,p.P1764S|NM_001286577,p.P1764S|ENST00000313663,p.P1764S|ENST00000414160,p.P572S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001ouu.2 nonsynonymous SNV exon27 c.C5290T p.P1764S GECQGQIKVAVSPLESLIHFKEERQ GECQGQIKVAVSSLESLIHFKEERQ 7.0 2.0 - - 4155_11:73760453-73760453 G>A_GECQGQIKVAVSSLESLIHFKEERQ 0.0 9:127572437-127572437 C>T 0.0 4158 COLORECTAL - - - - OLFML2A ENST00000373580,p.R569W|uc004bov.3,p.R569W|NM_182487,p.R569W|ENST00000288815,p.R355W|NM_001282715,p.R355W|uc004bow.3,p.R355W protein_coding uc004bow.3 nonsynonymous SNV exon5 c.C1063T p.R355W DLSVHRETTWKTRLRRNSYGNCFLV DLSVHRETTWKTWLRRNSYGNCFLV 6.0 10.0 - - 4158_9:127572437-127572437 C>T_DLSVHRETTWKTWLRRNSYGNCFLV 0.0 4:173734798-173734798 T>A 0.0 4196 COLORECTAL - - - - GALNTL6 uc003isv.3,p.F283I|NM_001034845,p.F283I|ENST00000506823,p.F283I|ENST00000508122,p.F266I protein_coding, processed_transcript uc003isv.3 nonsynonymous SNV exon7 c.T847A p.F283I YEAQAGDAMRGAFDWEMYYKRIPIP YEAQAGDAMRGAIDWEMYYKRIPIP 4.0 5.0 - - 4196_4:173734798-173734798 T>A_YEAQAGDAMRGAIDWEMYYKRIPIP 0.0 19:55493003-55493003 G>A 0.0 3998 MELANOMA - - - - NLRP2 uc010eso.3,p.G136E|ENST00000263437,p.G136E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010eso.3 nonsynonymous SNV exon5 c.G407A p.G136E LERFKTEAQETKGNVICLGKEVFKG LERFKTEAQETKENVICLGKEVFKG 3.0 9.0 - - 3998_19:55493003-55493003 G>A_LERFKTEAQETKENVICLGKEVFKG 0.0 1:228465295-228465295 G>A 0.0 3795 MELANOMA - - - - OBSCN uc001hsq.2,p.E2657K|NM_001271223,p.E2657K|uc001hsp.2,p.E16K|ENST00000366706,p.E76K|ENST00000570156,p.E2657K retained_intron, protein_coding, processed_transcript uc001hsq.2 nonsynonymous SNV exon29 c.G7969A p.E2657K DGATFSCEVSHDEVPGQWFWEGSKL DGATFSCEVSHDKVPGQWFWEGSKL 7.0 6.0 - - 3795_1:228465295-228465295 G>A_DGATFSCEVSHDKVPGQWFWEGSKL 0.0 3:195596389-195596389 G>C 1.0 3775 CERVICAL - - - - TNK2 uc003fvr.1,p.Q33E|ENST00000381916,p.Q586E|NM_001010938,p.Q586E|uc003fvt.1,p.Q586E|ENST00000416152,p.Q75E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003fvt.1 nonsynonymous SNV exon12 c.C1756G p.Q586E GGVKREPPPRPPQPAFFTQKPTYDP GGVKREPPPRPPEPAFFTQKPTYDP 10.0 4.0 - - 3775_3:195596389-195596389 G>C_GGVKREPPPRPPEPAFFTQKPTYDP 0.0 1:183072496-183072496 A>C 1.0 4320 COLORECTAL - - - - LAMC1 uc001gpy.4,p.K151T|ENST00000258341,p.K151T|uc001gpx.3,p.K151T|NM_002293,p.K151T protein_coding, processed_transcript uc001gpy.4 nonsynonymous SNV exon2 c.A452C p.K151T LGKAFDITYVRLKFHTSRPESFAIY LGKAFDITYVRLTFHTSRPESFAIY 10.0 3.0 - - 4320_1:183072496-183072496 A>C_LGKAFDITYVRLTFHTSRPESFAIY 0.0 19:19656689-19656689 C>T 1.0 4301 MELANOMA - - - - CILP2 ENST00000586018,p.P1118L|uc002nmw.4,p.P1118L|NM_153221,p.P1112L|ENST00000291495,p.P1112L|uc002nmv.4,p.P1112L retained_intron, protein_coding uc002nmw.4 nonsynonymous SNV exon8 c.C3353T p.P1118L VTFQCREPPAGRPSLFQRLLESPAT VTFQCREPPAGRLSLFQRLLESPAT 6.0 8.0 - - 4301_19:19656689-19656689 C>T_VTFQCREPPAGRLSLFQRLLESPAT 0.0 9:113170296-113170296 A>- 1.0 3713 MELANOMA - - - - SVEP1 ENST00000297826,p.F454fs|uc010mtz.3,p.F2528fs|uc010mty.3,p.F454fs|NM_153366,p.F2528fs|ENST00000401783,p.F2528fs|ENST00000374469,p.F2505fs protein_coding, processed_transcript uc010mtz.3 frameshift deletion exon38 c.7584delT p.F2528fs YGQTVTYSCNRGFRLEGPSALTCLE YGQTVTYSCNRGFGSKVPVP 2.0 10.0 - - 3713_9:113170296-113170296 A>-_YGQTVTYSCNRGFGSKVPVP 0.0 X:54028671-54028671 A>T 0.0 4129 NSCLC - - - - PHF8 NM_001184897,p.L353Q|uc004dsy.3,p.L353Q|uc004dsu.3,p.L389Q|ENST00000413386,p.L65Q|NM_001184896,p.L389Q|ENST00000357988,p.L389Q|ENST00000322659,p.L353Q|ENST00000338946,p.L353Q|uc004dsx.3,p.L117Q|uc004dsv.3,p.L219Q|NM_015107,p.L353Q|uc004dsw.3,p.L353Q|uc004dst.3,p.L353Q|NM_001184898,p.L353Q|ENST00000338154,p.L353Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004dsy.3 nonsynonymous SNV exon10 c.T1058A p.L353Q EMQLKAYEIEKRLSTADLFRFPNFE EMQLKAYEIEKRQSTADLFRFPNFE 6.0 10.0 - - 4129_X:54028671-54028671 A>T_EMQLKAYEIEKRQSTADLFRFPNFE 0.0 2:128758000-128758000 G>A 1.0 3713 MELANOMA - - - - SAP130 NM_001145928,p.P326S|uc002tpp.2,p.P326S|uc002tpn.2,p.P87S|ENST00000357702,p.P326S|uc010fmd.2,p.P326S|ENST00000259235,p.P326S|ENST00000259234,p.P300S|NM_024545,p.P326S protein_coding uc010fmd.2 nonsynonymous SNV exon8 c.C976T p.P326S ALSRPTLSIQHPPSAAISIQRPAQS ALSRPTLSIQHPSSAAISIQRPAQS 4.0 2.0 - - 3713_2:128758000-128758000 G>A_ALSRPTLSIQHPSSAAISIQRPAQS 0.0 7:92733555-92733555 A>C 0.0 4335 COLORECTAL - - ID=COSM1635486;OCCURENCE=1(liver) - SAMD9 NM_001193307,p.L619R|uc003umg.3,p.L619R|ENST00000379958,p.L619R|ENST00000446617,p.L619R|uc003umf.3,p.L619R|uc022ahg.1,p.L619R|NM_017654,p.L619R protein_coding uc022ahg.1 nonsynonymous SNV exon1 c.T1856G p.L619R SALSLEEINGTILKLKSVTQSSKRL SALSLEEINGTIRKLKSVTQSSKRL 8.0 5.0 - - 4335_7:92733555-92733555 A>C_SALSLEEINGTIRKLKSVTQSSKRL 0.0 9:100616375-100616375 C>T 0.0 4284 COLORECTAL - - - - FOXE1 NM_004473,p.A60V|uc004axu.3,p.A60V|ENST00000375123,p.A60V protein_coding uc004axu.3 nonsynonymous SNV exon1 c.C179T p.A60V PLQRGKPPYSYIALIAMAIAHAPER PLQRGKPPYSYIVLIAMAIAHAPER 4.0 1.0 - - 4284_9:100616375-100616375 C>T_PLQRGKPPYSYIVLIAMAIAHAPER 0.0 7:5529563-5529563 G>A 0.0 4240 BREAST - - - - FBXL18 ENST00000453700,p.H761Y|uc003soo.2,p.H761Y protein_coding, nonsense_mediated_decay uc003soo.2 nonsynonymous SNV exon5 c.C2281T p.H761Y IFFLVCLFETESHSVVQAGVQWRDL IFFLVCLFETESYSVVQAGVQWRDL 7.0 8.0 - - 4240_7:5529563-5529563 G>A_IFFLVCLFETESYSVVQAGVQWRDL 0.0 6:73830278-73830278 T>G 0.0 4213 COLORECTAL - - - - KCNQ5 ENST00000403813,p.L400V|uc010kat.3,p.L400V|uc011dyk.2,p.L159V|NM_001160130,p.L400V protein_coding uc011dyk.2 nonsynonymous SNV exon7 c.T475G p.L159V VSIATWKPHLKALHTCSPTNQKLSF VSIATWKPHLKAVHTCSPTNQKLSF 4.0 4.0 - - 4213_6:73830278-73830278 T>G_VSIATWKPHLKAVHTCSPTNQKLSF 0.0 21:22658706-22658706 A>T 0.0 4245 COLORECTAL - - - - NCAM2 NM_004540,p.N152I|uc002yld.2,p.N152I|uc011acc.2,p.N177I|ENST00000535285,p.N177I|ENST00000400546,p.N152I protein_coding, processed_transcript uc011acc.2 nonsynonymous SNV exon5 c.A530T p.N177I SSPAPAVSWLYHNEEVTTISDNRFA SSPAPAVSWLYHIEEVTTISDNRFA 5.0 7.0 - - 4245_21:22658706-22658706 A>T_SSPAPAVSWLYHIEEVTTISDNRFA 0.0 8:133854776-133854776 G>T 1.0 4134 NSCLC - - - - PHF20L1 ENST00000395386,p.D802Y|NM_016018,p.D802Y|NM_001277196,p.D776Y|uc011lja.2,p.D776Y|ENST00000220847,p.D189Y|ENST00000395390,p.D777Y|uc003ytt.3,p.D802Y retained_intron, protein_coding, nonsense_mediated_decay uc011lja.2 nonsynonymous SNV exon18 c.G2326T p.D776Y LKIGILKNKHHPDLHLWACSGKRKD LKIGILKNKHHPYLHLWACSGKRKD 10.0 5.0 - - 4134_8:133854776-133854776 G>T_LKIGILKNKHHPYLHLWACSGKRKD 0.0 3:25665064-25665064 G>T 0.0 4259 COLORECTAL - - - - TOP2B NM_001068,p.A885D|ENST00000435706,p.A885D|uc021wug.1,p.A885D|ENST00000264331,p.A890D|uc011awn.1,p.A890D|ENST00000424225,p.A885D|uc003cdj.3,p.A885D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021wug.1 nonsynonymous SNV exon22 c.C2654A p.A885D GTGWACKLPNYDAREIVNNVRRMLD GTGWACKLPNYDDREIVNNVRRMLD 9.0 8.0 - - 4259_3:25665064-25665064 G>T_GTGWACKLPNYDDREIVNNVRRMLD 0.0 7:140301261-140301261 G>A 0.0 4298 COLORECTAL - - - - DENND2A uc010lnk.3,p.P313S|ENST00000496613,p.P313S|ENST00000461883,p.P313S|uc010lnj.3,p.P313S|ENST00000275884,p.P313S|ENST00000537639,p.P313S|uc003vvx.3,p.P313S|ENST00000492720,p.P313S|NM_015689,p.P313S|uc003vvw.3,p.P313S protein_coding, nonsense_mediated_decay uc010lnk.3 nonsynonymous SNV exon3 c.C937T p.P313S SLPPPPLPSSPPPSSVNRRLWTGRQ SLPPPPLPSSPPSSSVNRRLWTGRQ 5.0 9.0 - - 4298_7:140301261-140301261 G>A_SLPPPPLPSSPPSSSVNRRLWTGRQ 0.0 7:107564729-107564729 T>A 1.0 4287 COLORECTAL - - - - LAMB1 uc003vev.2,p.N1748Y|uc003vew.2,p.N1724Y|ENST00000222399,p.N1724Y|NM_002291,p.N1724Y|ENST00000393561,p.N1748Y retained_intron, protein_coding, processed_transcript uc003vew.2 nonsynonymous SNV exon33 c.A5170T p.N1724Y SADARRKAEMLQNEAKTLLAQANSK SADARRKAEMLQYEAKTLLAQANSK 9.0 9.0 - - 4287_7:107564729-107564729 T>A_SADARRKAEMLQYEAKTLLAQANSK 0.0 19:33698435-33698435 C>T 1.0 3998 MELANOMA - - - - LRP3 uc010edh.3,p.S756F|NM_002333,p.S756F|ENST00000253193,p.S756F|uc002nuk.4,p.S630F retained_intron, protein_coding uc010edh.3 nonsynonymous SNV exon7 c.C2267T p.S756F PLGVCRNPPPPCSPMLEASDDEALL PLGVCRNPPPPCFPMLEASDDEALL 7.0 7.0 - - 3998_19:33698435-33698435 C>T_PLGVCRNPPPPCFPMLEASDDEALL 0.0 3:43121963-43121963 C>T 1.0 4160 COLORECTAL - - - - POMGNT2 uc021wwn.1,p.V321M|NM_032806,p.V321M|uc003cmr.2,p.V321M|uc003cmq.2,p.V321M|ENST00000344697,p.V321M|ENST00000441964,p.V321M protein_coding uc021wwn.1 nonsynonymous SNV exon1 c.G961A p.V321M ALAQEFQMKTVTVSLEDHTFADVVR ALAQEFQMKTVTMSLEDHTFADVVR 8.0 7.0 - - 4160_3:43121963-43121963 C>T_ALAQEFQMKTVTMSLEDHTFADVVR 0.0 8:143623482-143623482 G>A 1.0 4326 BREAST - - - - BAI1 ENST00000323289,p.G1296D|ENST00000517894,p.G1296D|NM_001702,p.G1296D|uc003ywm.3,p.G1296D retained_intron, protein_coding, nonsense_mediated_decay uc003ywm.3 nonsynonymous SNV exon27 c.G3887A p.G1296D SKLHLHGSPRYPGGPLPDFPNHSLT SKLHLHGSPRYPDGPLPDFPNHSLT 4.0 5.0 - - 4326_8:143623482-143623482 G>A_SKLHLHGSPRYPDGPLPDFPNHSLT 0.0 20:30522508-30522508 C>T 0.0 4235 COLORECTAL - - - - TTLL9 ENST00000535842,p.T274M|uc002wxc.2,p.T176M|ENST00000310998,p.T239M|ENST00000375938,p.T274M|uc010gdx.1,p.T274M|ENST00000375922,p.T216M|NM_001008409,p.T274M protein_coding uc010gdx.1 nonsynonymous SNV exon12 c.C821T p.T274M SPDYHPKKGCKWTLQRFRQYLASKH SPDYHPKKGCKWMLQRFRQYLASKH 3.0 3.0 - - 4235_20:30522508-30522508 C>T_SPDYHPKKGCKWMLQRFRQYLASKH 0.0 7:51097159-51097159 C>T 1.0 2369 MELANOMA - - - - COBL uc003tpq.4,p.G486E|ENST00000445054,p.G437E|uc003tpr.4,p.G545E|uc011kcl.2,p.G545E|uc003tpp.4,p.G331E|uc003tps.3,p.G602E|ENST00000265136,p.G545E|NM_001287436,p.G602E|NM_015198,p.G545E|uc003tpo.4,p.G87E|ENST00000431948,p.G430E|ENST00000395542,p.G627E retained_intron, protein_coding uc011kcl.2 nonsynonymous SNV exon10 c.G1634A p.G545E HGDTDAIPVTFIGEVSDDPVDSGLF HGDTDAIPVTFIEEVSDDPVDSGLF 6.0 8.0 - - 2369_7:51097159-51097159 C>T_HGDTDAIPVTFIEEVSDDPVDSGLF 0.0 5:38924622-38924622 A>C 0.0 4155 MELANOMA - - - - OSMR uc003jln.2,p.I657L|ENST00000274276,p.I657L|NM_003999,p.I657L protein_coding, nonsense_mediated_decay uc003jln.2 nonsynonymous SNV exon14 c.A1969C p.I657L WKDYSTESQPGFIQGYHVYLKSKAR WKDYSTESQPGFLQGYHVYLKSKAR 4.0 10.0 - - 4155_5:38924622-38924622 A>C_WKDYSTESQPGFLQGYHVYLKSKAR 0.0 2:207173100-207173100 C>T 1.0 2556 MELANOMA - - - - ZDBF2 ENST00000374423,p.S1283F|uc002vbp.2,p.S1283F|uc031rqy.1,p.S1281F|NM_001285549,p.S1281F|NM_020923,p.S1283F protein_coding uc031rqy.1 nonsynonymous SNV exon7 c.C3842T p.S1281F VDLENKIVKPTDSRINFDSHEPLQS VDLENKIVKPTDFRINFDSHEPLQS 8.0 5.0 - - 2556_2:207173100-207173100 C>T_VDLENKIVKPTDFRINFDSHEPLQS 0.0 19:9073552-9073552 C>T 0.0 3775 CERVICAL - - - 2 MUC16 ENST00000397910,p.E4632K|uc002mkp.3,p.E4632K|NM_024690,p.E4632K protein_coding, processed_transcript, nonsense_mediated_decay uc002mkp.3 nonsynonymous SNV exon3 c.G13894A p.E4632K IILSNVSVGAITEATKMEVPSFDAT IILSNVSVGAITKATKMEVPSFDAT 4.0 8.0 - - 3775_19:9073552-9073552 C>T_IILSNVSVGAITKATKMEVPSFDAT 0.0 13:67801893-67801893 C>T 1.0 2556 MELANOMA - - - - PCDH9 NM_203487,p.G227E|NM_020403,p.G227E|ENST00000328454,p.G227E|uc001vil.3,p.G227E|uc001vin.3,p.G227E|ENST00000377861,p.G227E|ENST00000377865,p.G227E|ENST00000456367,p.G227E|uc001vik.3,p.G227E|uc010thl.2,p.G227E|ENST00000544246,p.G227E protein_coding uc010thl.2 nonsynonymous SNV exon2 c.G680A p.G227E KDTYVMKIKVEDGGTPQKSSTAILQ KDTYVMKIKVEDEGTPQKSSTAILQ 7.0 2.0 - - 2556_13:67801893-67801893 C>T_KDTYVMKIKVEDEGTPQKSSTAILQ 0.0 12:70330305-70330305 C>T 0.0 3903 MELANOMA - - - - RAB3IP,LINC01481 uc010stn.1,p.P71L|ENST00000299350,p.P71L|ENST00000552032,p.P706L|uc001svu.1,p.P71L|ENST00000547771,p.P695L|ENST00000535034,p.P71L protein_coding, nonsense_mediated_decay uc010stn.1 nonsynonymous SNV exon4 c.C212T p.P71L LQVPEITFCEILPCQETYCCPIRGM LQVPEITFCEILLCQETYCCPIRGM 1.0 4.0 - - 3903_12:70330305-70330305 C>T_LQVPEITFCEILLCQETYCCPIRGM 0.0 3:132247075-132247075 G>A 0.0 4186 BREAST 0.0009 - - - DNAJC13 uc003eor.3,p.E2142K|ENST00000260818,p.E2142K|NM_015268,p.E2142K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003eor.3 nonsynonymous SNV exon54 c.G6424A p.E2142K KADLVPYLLKLLEGIGLENLDSPAA KADLVPYLLKLLKGIGLENLDSPAA 5.0 6.0 - - 4186_3:132247075-132247075 G>A_KADLVPYLLKLLKGIGLENLDSPAA 0.0 17:37671997-37671997 G>A 1.0 3309 MELANOMA - - - 1 CDK12 uc010wef.1,p.E927K|uc010cvv.3,p.E928K|ENST00000584632,p.E927K|NM_015083,p.E928K|ENST00000447079,p.E928K|NM_016507,p.E928K|ENST00000430627,p.E928K|uc002hrw.4,p.E928K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wef.1 nonsynonymous SNV exon9 c.G2779A p.E927K AIDVWSCGCILGELFTKKPIFQANL AIDVWSCGCILGKLFTKKPIFQANL 8.0 4.0 CD8 - 3309_17:37671997-37671997 G>A_AIDVWSCGCILGKLFTKKPIFQANL 1.0 2:180835441-180835441 T>A 0.0 4245 COLORECTAL - - - - CWC22 ENST00000295749,p.E361D|uc002unp.2,p.E361D|ENST00000410053,p.E361D|ENST00000404136,p.E361D|uc010frh.1,p.E361D|NM_020943,p.E361D protein_coding uc010frh.1 nonsynonymous SNV exon10 c.A1083T p.E361D DHPIILEGLDLVEEDDQFTHMLPLE DHPIILEGLDLVDEDDQFTHMLPLE 8.0 2.0 - - 4245_2:180835441-180835441 T>A_DHPIILEGLDLVDEDDQFTHMLPLE 0.0 16:1733515-1733515 G>T 1.0 4234 NSCLC - - - - HN1L uc010uvj.2,p.W17L|uc010uvi.2,p.W17L|ENST00000569765,p.W17L|ENST00000566925,p.W17L|ENST00000562684,p.W17L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010uvj.2 nonsynonymous SNV exon2 c.G50T p.W17L PDSEGGRAGSRKWQLLTGSLASTSP PDSEGGRAGSRKLQLLTGSLASTSP 9.0 10.0 - - 4234_16:1733515-1733515 G>T_PDSEGGRAGSRKLQLLTGSLASTSP 0.0 19:763526-763526 G>A 1.0 4298 COLORECTAL - - - - MISP NM_173481,p.R659H|uc002lpo.3,p.R659H|ENST00000215582,p.R659H protein_coding uc002lpo.3 nonsynonymous SNV exon5 c.G1976A p.R659H INSEVLEAIRVTRHKNAMAERWESR INSEVLEAIRVTHHKNAMAERWESR 9.0 3.0 - - 4298_19:763526-763526 G>A_INSEVLEAIRVTHHKNAMAERWESR 0.0 20:2582813-2582813 A>G 0.0 3903 MELANOMA - - - - TMC2 ENST00000358864,p.R427G|uc002wgf.1,p.R427G|uc010zpw.1,p.R259G|uc002wgg.1,p.R411G|uc010zpx.1,p.R258G|NM_080751,p.R427G protein_coding, processed_transcript uc010zpx.1 nonsynonymous SNV exon9 c.A772G p.R258G QESNKEENIHLTRFLRVLANFLIIC QESNKEENIHLTGFLRVLANFLIIC 1.0 6.0 - - 3903_20:2582813-2582813 A>G_QESNKEENIHLTGFLRVLANFLIIC 0.0 7:814737-814737 A>T 1.0 3713 MELANOMA - - - - HEATR2 uc010krz.1,p.N726I|uc003sjb.2,p.N106I|NM_017802,p.N726I|ENST00000313147,p.N726I|uc003siz.2,p.N594I|ENST00000403952,p.N151I|ENST00000297440,p.N726I|uc003sjc.2,p.N151I retained_intron, protein_coding, processed_transcript uc010krz.1 nonsynonymous SNV exon11 c.A2177T p.N726I SKMTRLISCRIINTFLKTSGGMTDP SKMTRLISCRIIITFLKTSGGMTDP 6.0 6.0 - - 3713_7:814737-814737 A>T_SKMTRLISCRIIITFLKTSGGMTDP 0.0 2:54874276-54874276 G>T 1.0 4320 COLORECTAL - - - - SPTBN1 NM_003128,p.Q1625H|ENST00000333896,p.Q1612H|uc002rxu.3,p.Q1625H|NM_178313,p.Q1612H|ENST00000356805,p.Q1625H|uc002rxx.3,p.Q1612H retained_intron, protein_coding uc002rxx.3 nonsynonymous SNV exon23 c.G4836T p.Q1612H LYMMSEEKAKDEQSAVSMLKKHQIL LYMMSEEKAKDEHSAVSMLKKHQIL 10.0 10.0 - - 4320_2:54874276-54874276 G>T_LYMMSEEKAKDEHSAVSMLKKHQIL 0.0 6:139264705-139264705 C>G 1.0 3713 MELANOMA - - - - REPS1 uc003qii.3,p.A309P|ENST00000415951,p.A309P|NM_001286612,p.A309P|NM_001128617,p.A309P|ENST00000258062,p.A309P|ENST00000450536,p.A309P|ENST00000529597,p.A295P|ENST00000409812,p.A309P|uc011edr.2,p.A309P|NM_001286611,p.A309P|ENST00000431346,p.A74P|uc003qij.3,p.A309P|uc003qig.4,p.A309P|NM_031922,p.A309P|ENST00000367663,p.A309P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011edr.2 nonsynonymous SNV exon7 c.G925C p.A309P QPDLNGFIPGSAAKEFFTKSKLPIL QPDLNGFIPGSAPKEFFTKSKLPIL 5.0 8.0 - - 3713_6:139264705-139264705 C>G_QPDLNGFIPGSAPKEFFTKSKLPIL 0.0 19:7676661-7676661 C>A 0.0 3795 MELANOMA - - - - CAMSAP3 uc002mgv.4,p.R428S|NM_001080429,p.R455S|NM_020902,p.R428S|uc002mgu.4,p.R455S|ENST00000160298,p.R428S|ENST00000446248,p.R455S retained_intron, protein_coding uc002mgv.4 nonsynonymous SNV exon11 c.C1282A p.R428S DVDVVMGDPVLLRSVSSDSLGPPRP DVDVVMGDPVLLSSVSSDSLGPPRP 4.0 1.0 - - 3795_19:7676661-7676661 C>A_DVDVVMGDPVLLSSVSSDSLGPPRP 0.0 14:72190579-72190579 C>T 1.0 3466 MELANOMA - - ID=COSM224470;OCCURENCE=1(skin) - SIPA1L1 NM_001284245,p.S1475F|ENST00000555818,p.S1496F|ENST00000358550,p.S1475F|NM_001284247,p.S1496F|NM_015556,p.S1496F|uc001xmu.3,p.S1475F|uc001xms.3,p.S1496F|ENST00000381232,p.S1475F|uc001xmt.3,p.S1475F|uc001xmv.3,p.S1496F|uc010ttm.2,p.S950F|ENST00000537413,p.S950F|NM_001284246,p.S1475F retained_intron, protein_coding, processed_transcript uc010ttm.2 nonsynonymous SNV exon14 c.C2849T p.S950F LIGWKKPEGTINSVGFMDTRKRHQS LIGWKKPEGTINFVGFMDTRKRHQS 10.0 5.0 - - 3466_14:72190579-72190579 C>T_LIGWKKPEGTINFVGFMDTRKRHQS 0.0 16:67195814-67195816 CGC>- 1.0 4078 GASTRIC - - - - FBXL8 NM_018378,p.42_43del|ENST00000519378,p.42_43del|ENST00000258200,p.42_43del|ENST00000519917,p.42_43del|uc002erk.1,p.42_43del protein_coding, processed_transcript, nonsense_mediated_decay uc002erk.1 nonframeshift deletion exon2 c.126_128del p.42_43del RVCRAWAAAATCSAVWHDTKISCEC RVCRAWAAAATCSVWHDTKISCECE 5.0 5.0 - - 4078_16:67195814-67195816 CGC>-_RVCRAWAAAATCSVWHDTKISCECE 0.0 22:30735137-30735137 G>A 1.0 3784 MELANOMA - - - - SF3A1 ENST00000411423,p.S32F retained_intron, protein_coding, nonsense_mediated_decay ENST00000411423 nonsynonymous SNV exon2 c.C95T p.S32F KQPLVRRSVRRRSRSQRKR KQPLVRRSVRRRFRSQRKR 10.0 1.0 - - 3784_22:30735137-30735137 G>A_KQPLVRRSVRRRFRSQRKR 0.0 10:100481584-100481584 C>A 0.0 4158 COLORECTAL - - - - HPSE2 uc001kpo.2,p.E204D|ENST00000370549,p.E204D|NM_001166244,p.E204D protein_coding uc001kpo.2 nonsynonymous SNV exon4 c.G612T p.E204D QFSNTYSNLILTEPNNYRTMHGRAV QFSNTYSNLILTDPNNYRTMHGRAV 2.0 7.0 - - 4158_10:100481584-100481584 C>A_QFSNTYSNLILTDPNNYRTMHGRAV 0.0 7:27839678-27839678 T>G 1.0 4252 COLORECTAL - - - - TAX1BP1 ENST00000409980,p.L578R|ENST00000457186,p.L133R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000457186 nonsynonymous SNV exon4 c.T398G p.L133R WKEQVKIAENVKLELAEVQDNYKLQ WKEQVKIAENVKRELAEVQDNYKLQ 10.0 10.0 - - 4252_7:27839678-27839678 T>G_WKEQVKIAENVKRELAEVQDNYKLQ 0.0 20:9360708-9360708 G>A 1.0 2556 MELANOMA - - ID=COSM107774;OCCURENCE=1(skin) - PLCB4 ENST00000278655,p.R251Q|uc002wnh.3,p.R98Q|uc021wam.1,p.R251Q|ENST00000414679,p.R251Q|ENST00000378501,p.R251Q|ENST00000378493,p.R251Q|uc010gbw.1,p.R251Q|uc010gbx.3,p.R251Q|NM_182797,p.R251Q|NM_001172646,p.R251Q|NM_000933,p.R251Q|uc021wal.1,p.R251Q|ENST00000378473,p.R251Q|ENST00000334005,p.R251Q protein_coding, processed_transcript uc021wam.1 nonsynonymous SNV exon10 c.G752A p.R251Q VDQLVSFLNEHQRDPRLNEILFPFY VDQLVSFLNEHQQDPRLNEILFPFY 7.0 7.0 - - 2556_20:9360708-9360708 G>A_VDQLVSFLNEHQQDPRLNEILFPFY 0.0 5:14336772-14336772 G>A 1.0 4329 COLORECTAL - - - - TRIO uc003jfh.1,p.R310Q|uc011cna.1,p.R612Q|ENST00000512070,p.R602Q|NM_007118,p.R661Q|ENST00000513206,p.R394Q|ENST00000344204,p.R661Q|uc003jff.3,p.R661Q|ENST00000509967,p.R612Q|ENST00000537187,p.R661Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cna.1 nonsynonymous SNV exon11 c.G1835A p.R612Q AHQLEDRIQDFVRRVEQRKILLDMS AHQLEDRIQDFVQRVEQRKILLDMS 10.0 10.0 CD8 - 4329_5:14336772-14336772 G>A_AHQLEDRIQDFVQRVEQRKILLDMS 1.0 2:88285259-88285259 G>T 0.0 4213 COLORECTAL - - - - RGPD1 uc021vkn.1,p.A12E|NM_001024457,p.A12E|ENST00000420840,p.A12E protein_coding, processed_transcript uc021vkn.1 nonsynonymous SNV exon1 c.C35A p.A12E MNVMGFNTDRLAWTRNKLRGFYFA MNVMGFNTDRLEWTRNKLRGFYFA 6.0 3.0 - - 4213_2:88285259-88285259 G>T_MNVMGFNTDRLEWTRNKLRGFYFA 0.0 17:17070735-17070735 C>G 0.0 4158 COLORECTAL - - - - MPRIP uc002gqy.2,p.L786V|uc002gqx.2,p.L786V retained_intron, protein_coding, processed_transcript uc002gqy.2 nonsynonymous SNV exon1 c.C2356G p.L786V DAESKHSMSMFTLRGRYEEEIRCVV DAESKHSMSMFTVRGRYEEEIRCVV 10.0 9.0 - - 4158_17:17070735-17070735 C>G_DAESKHSMSMFTVRGRYEEEIRCVV 0.0 12:6788646-6788646 G>A 1.0 3466 MELANOMA - - - 1 ZNF384 ENST00000535485,p.P14L|ENST00000319770,p.P14L|NM_001039920,p.P14L|uc010sfh.2,p.P14L|NM_001135734,p.P14L|ENST00000355772,p.P14L|ENST00000396795,p.P14L|uc001qqd.3,p.P14L|ENST00000544482,p.P14L|ENST00000542351,p.P14L|ENST00000540915,p.P14L|ENST00000396799,p.P14L|ENST00000361959,p.P14L|uc001qqa.3,p.P14L|ENST00000436774,p.P14L|ENST00000417772,p.P14L|ENST00000538829,p.P14L|NM_133476,p.P14L|ENST00000396801,p.P14L protein_coding, processed_transcript uc010sfh.2 nonsynonymous SNV exon3 c.C41T p.P14L EESHFNSNPYFWPSIPTVSGQIENT EESHFNSNPYFWLSIPTVSGQIENT 9.0 5.0 - - 3466_12:6788646-6788646 G>A_EESHFNSNPYFWLSIPTVSGQIENT 0.0 1:104163246-104163246 A>G 0.0 4316 COLORECTAL - - - - AMY2A uc001dut.3,p.Y273C|NM_000699,p.Y273C|ENST00000414303,p.Y273C protein_coding, processed_transcript uc001dut.3 nonsynonymous SNV exon5 c.A818G p.Y273C DYFGNGRVTEFKYGAKLGTVIRKWN DYFGNGRVTEFKCGAKLGTVIRKWN 3.0 5.0 - - 4316_1:104163246-104163246 A>G_DYFGNGRVTEFKCGAKLGTVIRKWN 0.0 16:86613015-86613015 C>T 1.0 4213 COLORECTAL - - - - FOXL1 ENST00000320241,p.A229V|NM_005250,p.A229V|uc002fjr.3,p.A229V protein_coding uc002fjr.3 nonsynonymous SNV exon1 c.C686T p.A229V DAGDAAQGAAAVAVGQAARTGDGPG DAGDAAQGAAAVVVGQAARTGDGPG 6.0 9.0 - - 4213_16:86613015-86613015 C>T_DAGDAAQGAAAVVVGQAARTGDGPG 0.0 10:114925334-114925334 G>A 1.0 4316 COLORECTAL - - ID=COSM267875,COSM267877,COSM267876;OCCURENCE=3(large_intestine) 1 TCF7L2 NM_001198530,p.A390T|ENST00000355717,p.A471T|uc010qro.2,p.A424T|NM_001146286,p.A424T|uc021pyo.1,p.A452T|uc010qrn.2,p.A390T|ENST00000369389,p.A158T|uc001lag.4,p.A471T|NM_001198531,p.A447T|NM_001146283,p.A471T|uc010qrm.2,p.A447T|uc021pym.1,p.A420T|uc021pyp.1,p.A443T|uc021pyl.1,p.A429T protein_coding, processed_transcript, nonsense_mediated_decay uc021pyp.1 nonsynonymous SNV exon13 c.G1327A p.A443T PGETNGEKKSAFATYKVKAAASAHP PGETNGEKKSAFTTYKVKAAASAHP 10.0 8.0 - - 4316_10:114925334-114925334 G>A_PGETNGEKKSAFTTYKVKAAASAHP 0.0 1:45205650-45205650 G>A 1.0 2359 MELANOMA - - ID=COSM414888;OCCURENCE=1(urinary_tract) - KIF2C ENST00000372224,p.A16T|uc010olb.2,p.A16T|uc001cmg.4,p.A16T|ENST00000372218,p.A16T|NM_001297655,p.A16T|NM_006845,p.A16T|ENST00000452259,p.A16T protein_coding, processed_transcript uc010olb.2 nonsynonymous SNV exon1 c.G46A p.A16T DSSLQARLFPGLAIKIQRSNGLIHS DSSLQARLFPGLTIKIQRSNGLIHS 8.0 9.0 CD8 - 2359_1:45205650-45205650 G>A_DSSLQARLFPGLTIKIQRSNGLIHS 1.0 5:64824311-64824311 G>A 1.0 3466 MELANOMA - - ID=COSM1718389;OCCURENCE=2(NS) - CENPK ENST00000396679,p.P189S|ENST00000242872,p.P189S|NM_022145,p.P189S|uc003jts.3,p.P189S|uc003jtu.3,p.P189S|ENST00000510693,p.P126S|NM_001267038,p.P189S|ENST00000508421,p.P159S|ENST00000514814,p.P189S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003jtu.3 nonsynonymous SNV exon9 c.C565T p.P189S LSTLGEFLEDHFPLPDRSVKKKKKN LSTLGEFLEDHFSLPDRSVKKKKKN 7.0 9.0 - - 3466_5:64824311-64824311 G>A_LSTLGEFLEDHFSLPDRSVKKKKKN 0.0 15:40591062-40591062 G>A 0.0 4213 COLORECTAL - - - - PLCB2 NM_001284298,p.R263W|uc010bbo.3,p.R263W|ENST00000558588,p.R263W|uc001zld.3,p.R263W|ENST00000456256,p.R263W|NM_001284297,p.R263W|uc010ucm.2,p.R263W|ENST00000260402,p.R263W|ENST00000557821,p.R263W|NM_004573,p.R263W retained_intron, protein_coding, nonsense_mediated_decay uc010ucm.2 nonsynonymous SNV exon9 c.C787T p.R263W DSRLNSLLFPPARPDQVQGLIDKYE DSRLNSLLFPPAWPDQVQGLIDKYE 9.0 10.0 - - 4213_15:40591062-40591062 G>A_DSRLNSLLFPPAWPDQVQGLIDKYE 0.0 11:5530313-5530313 C>T 0.0 4278 COLORECTAL 0.0023 - - - UBQLN3 ENST00000311659,p.R159Q|uc001may.1,p.R159Q|NM_017481,p.R159Q|ENST00000445998,p.R159Q|uc021qcw.1,p.R159Q protein_coding uc021qcw.1 nonsynonymous SNV exon1 c.G476A p.R159Q YRGFPDQPSSLMRQHVSVPEFVTQL YRGFPDQPSSLMQQHVSVPEFVTQL 1.0 9.0 - - 4278_11:5530313-5530313 C>T_YRGFPDQPSSLMQQHVSVPEFVTQL 0.0 17:73758832-73758832 G>A 0.0 4235 COLORECTAL - - - - GALK1 NM_000154,p.A249V|ENST00000588479,p.A249V|ENST00000225614,p.A249V|ENST00000592997,p.A41V|uc002jpk.3,p.A249V|ENST00000437911,p.A279V retained_intron, protein_coding, nonsense_mediated_decay uc002jpk.3 nonsynonymous SNV exon5 c.C746T p.A249V PVRRRQCEEVARALGKESLREVQLE PVRRRQCEEVARVLGKESLREVQLE 8.0 9.0 CD8 - 4235_17:73758832-73758832 G>A_PVRRRQCEEVARVLGKESLREVQLE 1.0 19:9204290-9204290 G>A 0.0 4284 COLORECTAL 0.0009 - - - OR1M1 uc010xkj.2,p.V124M|ENST00000429566,p.V124M|NM_001004456,p.V124M protein_coding uc010xkj.2 nonsynonymous SNV exon1 c.G370A p.V124M SVIIAMMAYDRFVAICHPLHYAKIM SVIIAMMAYDRFMAICHPLHYAKIM 1.0 9.0 - - 4284_19:9204290-9204290 G>A_SVIIAMMAYDRFMAICHPLHYAKIM 0.0 1:118165785-118165785 C>T 0.0 3775 CERVICAL - - - 1 FAM46C uc001ehe.3,p.L99F|NM_017709,p.L99F|uc021osq.1,p.L99F|ENST00000369448,p.L99F protein_coding uc021osq.1 nonsynonymous SNV exon1 c.C295T p.L99F GCKDLDLIFHVALPTEAEFQLVRDV GCKDLDLIFHVAFPTEAEFQLVRDV 8.0 7.0 - - 3775_1:118165785-118165785 C>T_GCKDLDLIFHVAFPTEAEFQLVRDV 0.0 9:131196807-131196807 G>A 1.0 4320 COLORECTAL - - - - CERCAM NM_016174,p.A484T|uc004buz.4,p.A484T|uc010mxz.3,p.A406T|ENST00000372842,p.A406T|uc004buy.1,p.A406T|NM_001286760,p.A406T|ENST00000372838,p.A484T|uc010mya.1,p.A325T retained_intron, protein_coding, processed_transcript uc010mya.1 nonsynonymous SNV exon8 c.G973A p.A325T YWTLAYALRLAGARKLLASQPLRRM YWTLAYALRLAGTRKLLASQPLRRM 6.0 9.0 - - 4320_9:131196807-131196807 G>A_YWTLAYALRLAGTRKLLASQPLRRM 0.0 16:24981867-24981874 ATATTTTG>- 1.0 4252 COLORECTAL - - - - ARHGAP17 ENST00000571480,p.Q76fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000571480 frameshift deletion exon4 c.226_233del p.Q76fs RRHKKLPLTALAQNMQEASTQLEDS RRHKKLPLTALAARSIDSAGRLSPGMLETCGDAENQLALELSQHEVFVEKEIVDPLYGI 9.0 3.0 - - 4252_16:24981867-24981874 ATATTTTG>-_RRHKKLPLTALAARSIDSAGRLSPGMLETCGDAENQLALELSQHEVFVEKEIVDPLYGI 0.0 7:129348939-129348939 G>C 1.0 3775 CERVICAL - - - - NRF1 NM_001040110,p.E211Q|uc003vpa.3,p.E211Q|ENST00000353868,p.E211Q|ENST00000223190,p.E211Q|uc003voz.3,p.E211Q|uc011kpa.2,p.E50Q|NM_001293163,p.E211Q|ENST00000393231,p.E211Q|ENST00000393232,p.E211Q|ENST00000393230,p.E211Q|ENST00000311967,p.E211Q|NM_005011,p.E211Q|NM_001293164,p.E50Q|ENST00000539636,p.E50Q|uc003vpb.3,p.E211Q protein_coding, processed_transcript uc011kpa.2 nonsynonymous SNV exon5 c.G148C p.E50Q KMTQAQLRAFIPEMLKYSTGRGKPG KMTQAQLRAFIPQMLKYSTGRGKPG 6.0 9.0 - - 3775_7:129348939-129348939 G>C_KMTQAQLRAFIPQMLKYSTGRGKPG 0.0 10:64950838-64950838 A>T 1.0 4189 MELANOMA - - - - JMJD1C NM_032776,p.I2036N|uc010qiq.2,p.I1854N|NM_001282948,p.I1854N|ENST00000402544,p.I1799N|uc001jmm.3,p.I1748N|ENST00000542921,p.I1854N|uc001jml.3,p.I1799N|ENST00000399262,p.I2036N|uc001jmn.3,p.I2036N|uc009xpi.3,p.I1854N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010qiq.2 nonsynonymous SNV exon16 c.T5561A p.I1854N KKENKELTLENQIKEEREQDNSESP KKENKELTLENQNKEEREQDNSESP 8.0 6.0 - - 4189_10:64950838-64950838 A>T_KKENKELTLENQNKEEREQDNSESP 0.0 2:189904199-189904199 C>T 1.0 3466 MELANOMA - - - - COL5A2 ENST00000374866,p.E1242K|uc002uqk.3,p.E1242K|NM_000393,p.E1242K|uc010frx.3,p.E818K retained_intron, protein_coding uc010frx.3 nonsynonymous SNV exon35 c.G2452A p.E818K TAALGDIMGHYDESMPDPLPEFTED TAALGDIMGHYDKSMPDPLPEFTED 10.0 3.0 - - 3466_2:189904199-189904199 C>T_TAALGDIMGHYDKSMPDPLPEFTED 0.0 11:55904280-55904280 C>T 0.0 4240 BREAST - - - - OR8J3 NM_001004064,p.M305I|uc010riz.2,p.M305I|ENST00000301529,p.M305I protein_coding uc010riz.2 nonsynonymous SNV exon1 c.G915A p.M305I RNNDVNVALKKFMENPCYSFKSM RNNDVNVALKKFIENPCYSFKSM 1.0 9.0 - - 4240_11:55904280-55904280 C>T_RNNDVNVALKKFIENPCYSFKSM 0.0 6:143074653-143074653 G>A 1.0 4346 COLORECTAL - - ID=COSM1073992;OCCURENCE=1(endometrium) - HIVEP2 ENST00000012134,p.S2311L|NM_006734,p.S2311L|uc003qjd.3,p.S2311L|ENST00000367604,p.S2311L|ENST00000367603,p.S2311L protein_coding, processed_transcript uc003qjd.3 nonsynonymous SNV exon10 c.C6932T p.S2311L PSSPRLLMKQSTSEDSLNATEREQE PSSPRLLMKQSTLEDSLNATEREQE 4.0 4.0 - - 4346_6:143074653-143074653 G>A_PSSPRLLMKQSTLEDSLNATEREQE 0.0 2:220494796-220494796 C>T 0.0 3775 CERVICAL - - - - SLC4A3 uc002vmn.2,p.P205L|ENST00000373762,p.P205L|NM_201574,p.P205L|ENST00000273063,p.P205L|uc002vmo.4,p.P205L protein_coding, processed_transcript, nonsense_mediated_decay uc002vmo.4 nonsynonymous SNV exon6 c.C614T p.P205L PHTDKSPQHSSRPCSELRDGDGTTD PHTDKSPQHSSRLCSELRDGDGTTD 3.0 9.0 - - 3775_2:220494796-220494796 C>T_PHTDKSPQHSSRLCSELRDGDGTTD 0.0 12:13061296-13061296 G>A 1.0 3678 MELANOMA - - - - GPRC5A NM_003979,p.G38E|ENST00000014914,p.G38E|uc001rba.3,p.G38E|ENST00000534831,p.G38E retained_intron, protein_coding, processed_transcript uc001rba.3 nonsynonymous SNV exon2 c.G113A p.G38E AWGIVLETVATAGVVTSVAFMLTLP AWGIVLETVATAEVVTSVAFMLTLP 8.0 6.0 - - 3678_12:13061296-13061296 G>A_AWGIVLETVATAEVVTSVAFMLTLP 0.0 1:220236275-220236275 C>T 1.0 4237 NSCLC - - - - BPNT1 uc010puh.2,p.G130R|NM_001286149,p.G111R|uc001hma.3,p.G166R|NM_001286151,p.G111R|ENST00000469520,p.G166R|NM_001286150,p.G130R|uc010pug.2,p.G111R|NM_006085,p.G166R|ENST00000322067,p.G166R|ENST00000414869,p.G130R|ENST00000544404,p.G111R|ENST00000463953,p.G130R retained_intron, protein_coding, processed_transcript uc010puh.2 nonsynonymous SNV exon6 c.G388A p.G130R YYNYEAGPDAVLGRTIWGVLGLGAF YYNYEAGPDAVLRRTIWGVLGLGAF 9.0 5.0 CD8 - 4237_1:220236275-220236275 C>T_YYNYEAGPDAVLRRTIWGVLGLGAF 1.0 X:49068710-49068710 C>G 1.0 4317 COLORECTAL - - - - CACNA1F NM_005183,p.G1345A|uc031tjm.1,p.G1280A|NM_001256789,p.G1334A|uc010nip.3,p.G1334A|ENST00000376265,p.G1345A|NM_001256790,p.G1280A|ENST00000376251,p.G1280A|uc004dnb.3,p.G1345A|ENST00000323022,p.G1334A retained_intron, protein_coding, processed_transcript uc031tjm.1 nonsynonymous SNV exon34 c.G3839C p.G1280A LIAMIFFIYAVIGMQMFGKVALQDG LIAMIFFIYAVIAMQMFGKVALQDG 5.0 4.0 - - 4317_X:49068710-49068710 C>G_LIAMIFFIYAVIAMQMFGKVALQDG 0.0 6:129823850-129823850 A>C 1.0 4246 COLORECTAL - - - - LAMA2 uc021zfb.1,p.K2764T|NM_000426,p.K2764T|ENST00000421865,p.K2764T|NM_001079823,p.K2760T protein_coding, processed_transcript uc021zfb.1 nonsynonymous SNV exon59 c.A8291C p.K2764T AAESEPALLIGSKQFGLSRNSHIAI AAESEPALLIGSTQFGLSRNSHIAI 1.0 3.0 - - 4246_6:129823850-129823850 A>C_AAESEPALLIGSTQFGLSRNSHIAI 0.0 1:155171798-155171798 C>T 1.0 3879 MELANOMA - - - - THBS3 NM_007112,p.D376N|uc010pfu.2,p.D256N|ENST00000428962,p.D226N|NM_001252607,p.D367N|ENST00000457183,p.D256N|NM_001252608,p.D256N|uc009wqi.3,p.D367N|ENST00000368378,p.D376N|uc001fix.3,p.D376N protein_coding, processed_transcript uc010pfu.2 nonsynonymous SNV exon8 c.G766A p.D256N SKQVCNDIDECNDGNNGGCDPNSIC SKQVCNDIDECNNGNNGGCDPNSIC 6.0 1.0 - - 3879_1:155171798-155171798 C>T_SKQVCNDIDECNNGNNGGCDPNSIC 0.0 1:35227616-35227616 A>T 0.0 4329 COLORECTAL - - - - GJB4 ENST00000339480,p.K254M|uc001bxw.4,p.K254M|uc001bxv.1,p.K254M|NM_153212,p.K254M protein_coding uc001bxw.4 nonsynonymous SNV exon1 c.A761T p.K254M GGHPEDGNSVLMKAGSAPVDAGGYP GGHPEDGNSVLMMAGSAPVDAGGYP 3.0 3.0 - - 4329_1:35227616-35227616 A>T_GGHPEDGNSVLMMAGSAPVDAGGYP 0.0 15:54557693-54557693 T>A 0.0 4326 BREAST - - - - UNC13C uc002acl.3,p.F103I|uc021sms.1,p.F1273I|NM_001080534,p.F1273I|ENST00000537900,p.F1271I|ENST00000260323,p.F1273I|ENST00000545554,p.F1273I retained_intron, protein_coding uc021sms.1 nonsynonymous SNV exon9 c.T3817A p.F1273I GNLNPVWDEKFYFECHNSTDRIKVR GNLNPVWDEKFYIECHNSTDRIKVR 3.0 3.0 - - 4326_15:54557693-54557693 T>A_GNLNPVWDEKFYIECHNSTDRIKVR 0.0 6:72678732-72678732 A>G 0.0 4078 GASTRIC - - ID=COSM241418;OCCURENCE=1(prostate),1(large_intestine) - RIMS1 ENST00000521978,p.R71G|ENST00000348717,p.R71G|ENST00000518273,p.R71G|ENST00000520567,p.R71G|NM_014989,p.R71G|ENST00000517960,p.R71G|ENST00000522291,p.R71G|uc003pga.4,p.R71G|ENST00000264839,p.R71G|ENST00000491071,p.R71G retained_intron, protein_coding, processed_transcript uc003pga.4 nonsynonymous SNV exon2 c.A211G p.R71G RDMAKPAACKTPRNAENQPHQPSPR RDMAKPAACKTPGNAENQPHQPSPR 1.0 9.0 - - 4078_6:72678732-72678732 A>G_RDMAKPAACKTPGNAENQPHQPSPR 0.0 17:7577538-7577538 C>T 1.0 4245 COLORECTAL - - ID=COSM99021,COSM99020,COSM10662,COSM99602,COSM3356964,COSM1640830;OCCURENCE=37(urinary_tract),1(adrenal_gland),2(kidney),17(pancreas),8(liver),5(prostate),154(large_intestine),4(biliary_tract),72(breast),13(skin),7(small_intestine),12(endometrium),1(pituitary),32(ovary),3(cervix),58(haematopoietic_and_lymphoid_tissue),1(pleura),5(thyroid),1(peritoneum),18(lung),37(upper_aerodigestive_tract),2(NS),4(bone),3(vulva),37(oesophagus),45(central_nervous_system),37(stomach) 1 TP53 NM_001276696,p.R209Q|NM_000546,p.R248Q|NM_001276699,p.R89Q|NM_001126116,p.R116Q|NM_001276697,p.R89Q|ENST00000359597,p.R248Q|NM_001276761,p.R209Q|NM_001276760,p.R209Q|NM_001276695,p.R209Q|uc002gii.2,p.R89Q|uc002gio.3,p.R116Q|NM_001126113,p.R248Q|ENST00000413465,p.R248Q|uc010cng.2,p.R89Q|uc031qyq.1,p.R209Q|NM_001276698,p.R89Q|NM_001126112,p.R248Q|NM_001126117,p.R116Q|uc010cnf.2,p.R89Q|uc002gij.3,p.R209Q|uc002gih.3,p.R248Q|ENST00000509690,p.R116Q|ENST00000445888,p.R248Q|ENST00000420246,p.R248Q|NM_001126114,p.R248Q|ENST00000455263,p.R248Q|NM_001126115,p.R116Q|ENST00000269305,p.R248Q|uc002gig.1,p.R248Q|NM_001126118,p.R209Q|uc002gin.3,p.R155Q retained_intron, protein_coding, processed_transcript uc031qyq.1 nonsynonymous SNV exon6 c.G626A p.R209Q YMCNSSCMGGMNRRPILTIITLEDS YMCNSSCMGGMNQRPILTIITLEDS 9.0 10.0 - - 4245_17:7577538-7577538 C>T_YMCNSSCMGGMNQRPILTIITLEDS 0.0 11:116692113-116692113 G>A 0.0 4346 COLORECTAL - - ID=COSM243004;OCCURENCE=1(prostate) - APOA4 NM_000482,p.R221C|ENST00000357780,p.R221C|uc001pps.1,p.R221C protein_coding uc001pps.1 nonsynonymous SNV exon3 c.C661T p.R221C KVKIDQTVEELRRSLAPYAQDTQEK KVKIDQTVEELRCSLAPYAQDTQEK 1.0 6.0 - - 4346_11:116692113-116692113 G>A_KVKIDQTVEELRCSLAPYAQDTQEK 0.0 10:24896731-24896731 G>A 1.0 3713 MELANOMA - - - - ARHGAP21 ENST00000396432,p.P842S|uc009xkl.1,p.P842S|uc001isb.2,p.P842S|NM_020824,p.P842S|ENST00000320481,p.P629S|uc010qdc.1,p.P677S|ENST00000376410,p.P832S|ENST00000446003,p.P842S retained_intron, protein_coding, processed_transcript uc010qdc.1 nonsynonymous SNV exon4 c.C2029T p.P677S ASTSQVPSIATVPPCLTTSAPLIRR ASTSQVPSIATVSPCLTTSAPLIRR 8.0 5.0 - - 3713_10:24896731-24896731 G>A_ASTSQVPSIATVSPCLTTSAPLIRR 0.0 13:39261510-39261510 C>T 0.0 4275 COLORECTAL - - - - FREM2 NM_207361,p.S10F|ENST00000280481,p.S10F|uc001uwv.3,p.S10F protein_coding, processed_transcript uc001uwv.3 nonsynonymous SNV exon1 c.C29T p.S10F MHSAGTPGLSSRRTGNSTSFQP MHSAGTPGLFSRRTGNSTSFQP 7.0 10.0 - - 4275_13:39261510-39261510 C>T_MHSAGTPGLFSRRTGNSTSFQP 0.0 14:20020135-20020135 C>A 0.0 4266 COLORECTAL - - - - POTEM NM_001145442,p.R29L|ENST00000547848,p.R29L|ENST00000551509,p.R29L|ENST00000547722,p.R29L|uc001vwc.3,p.R29L protein_coding, nonsense_mediated_decay uc001vwc.3 nonsynonymous SNV exon1 c.G86T p.R29L PFGLRSKMGKWCRHCFPWCRGSGKS PFGLRSKMGKWCLHCFPWCRGSGKS 3.0 2.0 - - 4266_14:20020135-20020135 C>A_PFGLRSKMGKWCLHCFPWCRGSGKS 0.0 3:184045024-184045024 G>A 1.0 3678 MELANOMA - - - - EIF4G1 uc003fnv.4,p.R1151Q|uc003fnr.3,p.R986Q|NM_004953,p.R955Q|uc003fnw.3,p.R1157Q|NM_001194947,p.R1157Q|ENST00000424196,p.R1157Q|uc003fnp.3,p.R1150Q|uc010hxy.3,p.R1157Q|ENST00000427845,p.R1064Q|uc003fns.3,p.R1110Q|ENST00000382330,p.R1157Q|NM_001194946,p.R1157Q|uc010hxx.3,p.R1157Q|ENST00000414031,p.R1110Q|ENST00000346169,p.R1150Q|ENST00000319274,p.R1150Q|NM_198242,p.R986Q|NM_001291157,p.R1110Q|uc003fnq.3,p.R1063Q|ENST00000441154,p.R987Q|ENST00000434061,p.R955Q|uc003fnt.3,p.R861Q|ENST00000411531,p.R1111Q|uc003fnx.3,p.R955Q|ENST00000342981,p.R1151Q|ENST00000352767,p.R1157Q|ENST00000392537,p.R1063Q|ENST00000435046,p.R954Q|NM_198244,p.R1063Q|NM_182917,p.R1151Q|NM_198241,p.R1150Q|ENST00000350481,p.R986Q retained_intron, protein_coding, nonsense_mediated_decay uc010hxy.3 nonsynonymous SNV exon24 c.G3470A p.R1157Q RRVVQRSSLSRERGEKAGDRGDRLE RRVVQRSSLSREQGEKAGDRGDRLE 10.0 2.0 - - 3678_3:184045024-184045024 G>A_RRVVQRSSLSREQGEKAGDRGDRLE 0.0 17:27238156-27238156 A>C 0.0 4345 COLORECTAL - - - - PHF12 ENST00000579036,p.L217R|ENST00000577226,p.L730R|NM_001290131,p.L730R|uc002hdi.1,p.L726R|NM_001033561,p.L730R|uc010wbb.1,p.L712R|uc002hdg.1,p.L730R|uc002hdh.1,p.L513R|ENST00000332830,p.L730R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wbb.1 nonsynonymous SNV exon9 c.T2135G p.L712R ANSTAMVDLTNSLRAFMDVNGEIEI ANSTAMVDLTNSRRAFMDVNGEIEI 9.0 1.0 - - 4345_17:27238156-27238156 A>C_ANSTAMVDLTNSRRAFMDVNGEIEI 0.0 8:124382135-124382135 C>G 1.0 4134 NSCLC - - - - ATAD2 ENST00000287394,p.G286A|uc003yqj.3,p.G286A|uc003yqh.4,p.G286A|NM_014109,p.G286A|uc011lii.2,p.G77A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011lii.2 nonsynonymous SNV exon7 c.G230C p.G77A DDDDEDDEDEEDGEEENQKRYYLRQ DDDDEDDEDEEDAEEENQKRYYLRQ 7.0 6.0 - - 4134_8:124382135-124382135 C>G_DDDDEDDEDEEDAEEENQKRYYLRQ 0.0 10:72636359-72636359 G>T 1.0 4237 NSCLC - - - - SGPL1 uc001jrm.3,p.D503Y|ENST00000373202,p.D503Y|NM_003901,p.D503Y protein_coding, processed_transcript uc001jrm.3 nonsynonymous SNV exon14 c.G1507T p.D503Y HARKRVAIQFLKDIRESVTQIMKNP HARKRVAIQFLKYIRESVTQIMKNP 8.0 3.0 - - 4237_10:72636359-72636359 G>T_HARKRVAIQFLKYIRESVTQIMKNP 0.0 1:242013754-242013754 T>A 1.0 3879 MELANOMA - - - - EXO1 ENST00000437497,p.F9L|ENST00000423131,p.F9L|NM_130398,p.F9L|uc021plj.1,p.F9L|NM_006027,p.F9L|uc001hzh.3,p.F9L|ENST00000450748,p.F9L|ENST00000518483,p.F9L|ENST00000348581,p.F9L|NM_003686,p.F9L|uc009xgq.3,p.F9L|uc021plk.1,p.F9L|ENST00000366548,p.F9L|ENST00000523590,p.F9L protein_coding, processed_transcript uc021plk.1 nonsynonymous SNV exon2 c.T27A p.F9L MGIQGLLQFIKEASEPIHVRK MGIQGLLQLIKEASEPIHVRK 8.0 1.0 - - 3879_1:242013754-242013754 T>A_MGIQGLLQLIKEASEPIHVRK 0.0 9:94519727-94519727 T>C 0.0 4345 COLORECTAL - - - - ROR2 uc004ark.3,p.K97R|uc004arj.2,p.K97R|ENST00000375708,p.K97R|NM_004560,p.K97R retained_intron, protein_coding, processed_transcript uc004ark.3 nonsynonymous SNV exon3 c.A290G p.K97R VAGNPPPNVRWLKNDAPVVQEPRRI VAGNPPPNVRWLRNDAPVVQEPRRI 4.0 3.0 - - 4345_9:94519727-94519727 T>C_VAGNPPPNVRWLRNDAPVVQEPRRI 0.0 9:124979533-124979533 G>C 0.0 4278 COLORECTAL - - - - LHX6 ENST00000340587,p.Q166E|ENST00000394319,p.Q166E|NM_014368,p.Q166E|NM_199160,p.Q166E|ENST00000373755,p.Q137E|uc004blx.4,p.Q166E|uc004bly.4,p.Q166E|uc022bmx.1,p.Q155E|NM_001242333,p.Q155E|ENST00000541397,p.Q155E|NM_001242334,p.Q137E|uc010mvw.3,p.Q137E|ENST00000373754,p.Q137E protein_coding, processed_transcript uc022bmx.1 nonsynonymous SNV exon5 c.C463G p.Q155E SRFGTKCARCGRQIYASDWVRRARG SRFGTKCARCGREIYASDWVRRARG 5.0 9.0 - - 4278_9:124979533-124979533 G>C_SRFGTKCARCGREIYASDWVRRARG 0.0 15:68653990-68653990 C>T 0.0 3466 MELANOMA - - - - ITGA11 ENST00000423218,p.G137E|NM_001004439,p.G137E|uc002ari.3,p.G137E|ENST00000315757,p.G137E|uc010bib.3,p.G137E retained_intron, protein_coding, processed_transcript uc010bib.3 nonsynonymous SNV exon5 c.G410A p.G137E WSHECGSSYYTTGMCSRVNSNFRFS WSHECGSSYYTTEMCSRVNSNFRFS 4.0 5.0 - - 3466_15:68653990-68653990 C>T_WSHECGSSYYTTEMCSRVNSNFRFS 0.0 4:36109278-36109278 C>A 1.0 4234 NSCLC - - - - ARAP2 NM_015230,p.Q1398H|ENST00000303965,p.Q1398H|uc003gsq.2,p.Q1398H retained_intron, protein_coding, processed_transcript uc003gsq.2 nonsynonymous SNV exon27 c.G4194T p.Q1398H ERPLHYKENVLEQVLRWSSLAEPGS ERPLHYKENVLEHVLRWSSLAEPGS 7.0 6.0 - - 4234_4:36109278-36109278 C>A_ERPLHYKENVLEHVLRWSSLAEPGS 0.0 10:72534084-72534084 T>A 0.0 4258 ENDOMETRIAL - - - - TBATA ENST00000456372,p.R240S protein_coding ENST00000456372 nonsynonymous SNV exon6 c.A720T p.R240S ELLKKTSLWDSCRQQWLSSFPSP ELLKKTSLWDSCSQQWLSSFPSP 1.0 9.0 - - 4258_10:72534084-72534084 T>A_ELLKKTSLWDSCSQQWLSSFPSP 0.0 1:25166413-25166413 C>T 1.0 4000 MELANOMA - - - - CLIC4 ENST00000374379,p.P160S|uc001bjo.2,p.P160S|uc001bjp.1,p.P140S|NM_013943,p.P160S|ENST00000488683,p.P160S protein_coding, processed_transcript, nonsense_mediated_decay uc001bjp.1 nonsynonymous SNV exon5 c.C418T p.P140S LQKLDEYLNSPLPDEIDENSMEDIK LQKLDEYLNSPLSDEIDENSMEDIK 10.0 9.0 - - 4000_1:25166413-25166413 C>T_LQKLDEYLNSPLSDEIDENSMEDIK 0.0 15:50339561-50339561 A>T 0.0 4266 COLORECTAL - - - - ATP8B4 uc001zxu.3,p.L63H|ENST00000284509,p.L63H|ENST00000559726,p.L63H|ENST00000557955,p.L63H|ENST00000558906,p.L63H|NM_024837,p.L63H|ENST00000559829,p.L63H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001zxu.3 nonsynonymous SNV exon4 c.T188A p.L63H QFQRVANAYFLCLLILQLIPEISSL QFQRVANAYFLCHLILQLIPEISSL 5.0 1.0 - - 4266_15:50339561-50339561 A>T_QFQRVANAYFLCHLILQLIPEISSL 0.0 1:178834622-178834622 C>T 0.0 4160 COLORECTAL - - - - ANGPTL1 ENST00000367629,p.R97Q|uc001gma.3,p.R97Q|uc001gmb.3,p.R97Q|ENST00000234816,p.R97Q|NM_004673,p.R97Q|uc010pnc.1,p.R19Q|ENST00000444255,p.R97Q protein_coding uc010pnc.1 nonsynonymous SNV exon3 c.G56A p.R19Q LENLKDVLSRQKREIDVLQLVVDVD LENLKDVLSRQKQEIDVLQLVVDVD 3.0 8.0 - - 4160_1:178834622-178834622 C>T_LENLKDVLSRQKQEIDVLQLVVDVD 0.0 9:130211640-130211640 A>T 1.0 4081 COLORECTAL - - - - RPL12 ENST00000361436,p.I71N|NM_000976,p.I71N|uc004bqy.2,p.I71N protein_coding, processed_transcript uc004bqy.2 nonsynonymous SNV exon4 c.T212A p.I71N TVKLTIQNRQAQIEVVPSASALIIK TVKLTIQNRQAQNEVVPSASALIIK 10.0 9.0 - - 4081_9:130211640-130211640 A>T_TVKLTIQNRQAQNEVVPSASALIIK 0.0 19:36124842-36124842 G>A 1.0 4240 BREAST - - - - RBM42 uc002oaq.3,p.R284H|uc002oan.3,p.R313H|ENST00000262633,p.R313H|ENST00000589871,p.R291H|NM_024321,p.R313H|ENST00000588161,p.R283H|ENST00000589559,p.R284H|ENST00000360475,p.R284H|uc002oap.3,p.R283H|ENST00000592202,p.R259H retained_intron, protein_coding uc002oaq.3 nonsynonymous SNV exon6 c.G851A p.R284H PLEVVRGLLPPLRIPELLSLRPRPR PLEVVRGLLPPLHIPELLSLRPRPR 10.0 2.0 - - 4240_19:36124842-36124842 G>A_PLEVVRGLLPPLHIPELLSLRPRPR 0.0 19:19351423-19351423 G>A 0.0 3775 CERVICAL - - - - NCAN ENST00000538881,p.E592K|ENST00000252575,p.E1141K|NM_004386,p.E1141K|uc002nlz.3,p.E1141K retained_intron, protein_coding uc002nlz.3 nonsynonymous SNV exon12 c.G3421A p.E1141K PEEHSFINSFGHENTWIGLNDRIVE PEEHSFINSFGHKNTWIGLNDRIVE 1.0 9.0 - - 3775_19:19351423-19351423 G>A_PEEHSFINSFGHKNTWIGLNDRIVE 0.0 X:153128279-153128279 C>A 0.0 4246 COLORECTAL - - - - L1CAM uc004fjc.4,p.D1201Y|ENST00000361981,p.D1196Y|ENST00000370057,p.D1205Y|uc004fjb.4,p.D1205Y|NM_000425,p.D1205Y|ENST00000370060,p.D1205Y|ENST00000543994,p.D1207Y|NM_001143963,p.D1196Y|NM_001278116,p.D1205Y|ENST00000361699,p.D1201Y|uc031tks.1,p.D1205Y|NM_024003,p.D1201Y|ENST00000370058,p.D101Y|ENST00000538883,p.D1203Y|uc010nuo.4,p.D1196Y|ENST00000370055,p.D1196Y retained_intron, protein_coding, processed_transcript uc031tks.1 nonsynonymous SNV exon29 c.G3613T p.D1205Y PSLNGDIKPLGSDDSLADYGGSVDV PSLNGDIKPLGSYDSLADYGGSVDV 1.0 8.0 - - 4246_X:153128279-153128279 C>A_PSLNGDIKPLGSYDSLADYGGSVDV 0.0 2:215835040-215835040 C>T 0.0 3903 MELANOMA - - ID=COSM226040;OCCURENCE=1(NS) - ABCA12 uc010zjn.2,p.E810K|uc002vev.3,p.E1565K|ENST00000389661,p.E1565K|uc002vew.3,p.E1883K|NM_015657,p.E1565K|ENST00000272895,p.E1883K|NM_173076,p.E1883K protein_coding uc010zjn.2 nonsynonymous SNV exon39 c.G2428A p.E810K SQVIYNLTGQRVENYLISTANEFVQ SQVIYNLTGQRVKNYLISTANEFVQ 1.0 2.0 - - 3903_2:215835040-215835040 C>T_SQVIYNLTGQRVKNYLISTANEFVQ 0.0 7:99170553-99170553 T>A 1.0 4000 MELANOMA - - - - ZNF655 uc010lga.3,p.D309E|ENST00000424881,p.D309E|NM_001083956,p.D309E|ENST00000493277,p.D309E|ENST00000394163,p.D274E|NM_138494,p.D274E|uc003urh.3,p.D274E|NM_001085368,p.D309E|uc010lgd.3,p.D111E|uc003urk.3,p.D111E|uc003urj.3,p.D274E|uc010lgc.3,p.D309E|ENST00000252713,p.D274E|NM_001009960,p.D274E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010lgd.3 nonsynonymous SNV exon3 c.T333A p.D111E HTREKPYKCEASDKSCEASDKSCSP HTREKPYKCEASEKSCEASDKSCSP 9.0 6.0 - - 4000_7:99170553-99170553 T>A_HTREKPYKCEASEKSCEASDKSCSP 0.0 5:50091070-50091070 G>C 1.0 4252 COLORECTAL - - - - PARP8 NM_024615,p.R416T|ENST00000505554,p.R395T|ENST00000514067,p.R416T|NM_001178055,p.R416T|ENST00000503750,p.R416T|uc011cpz.2,p.R308T|ENST00000281631,p.R416T|ENST00000514342,p.R169T|ENST00000505697,p.R416T|uc003jop.3,p.R416T|NM_001178056,p.R416T|uc003joo.3,p.R416T|uc003jon.4,p.R416T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cpz.2 nonsynonymous SNV exon11 c.G923C p.R308T HKLLSRSYSSNLRMEELYGLKNHKL HKLLSRSYSSNLTMEELYGLKNHKL 8.0 1.0 - - 4252_5:50091070-50091070 G>C_HKLLSRSYSSNLTMEELYGLKNHKL 0.0 X:32841428-32841428 A>C 0.0 4158 COLORECTAL - - - - DMD ENST00000357033,p.I114R|ENST00000288447,p.I106R|uc004dda.1,p.I114R|NM_004006,p.I114R|ENST00000378677,p.I110R|NM_004009,p.I110R|uc004ddb.1,p.I106R|uc004dcy.1,p.I110R|uc004ddf.3,p.I106R|NM_000109,p.I106R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004ddf.3 nonsynonymous SNV exon5 c.T317G p.I106R GNHKLTLGLIWNIILHWQVKNVMKN GNHKLTLGLIWNRILHWQVKNVMKN 5.0 6.0 - - 4158_X:32841428-32841428 A>C_GNHKLTLGLIWNRILHWQVKNVMKN 0.0 13:108861761-108861761 C>A 0.0 4126 NSCLC - - - - LIG4 NM_002312,p.G619V|ENST00000405925,p.G619V|ENST00000442234,p.G619V|uc021rmk.1,p.G619V|NM_206937,p.G619V|ENST00000356922,p.G619V|NM_001098268,p.G619V|uc001vqp.3,p.G619V|uc010agf.3,p.G619V|uc001vqo.3,p.G619V|uc001vqn.3,p.G619V|uc010agg.1,p.G552V protein_coding uc021rmk.1 nonsynonymous SNV exon1 c.G1856T p.G619V SGKLASKHLYIGGDDEPQEKKRKAA SGKLASKHLYIGVDDEPQEKKRKAA 4.0 2.0 - - 4126_13:108861761-108861761 C>A_SGKLASKHLYIGVDDEPQEKKRKAA 0.0 6:109954238-109954238 G>A 1.0 3998 MELANOMA - - - - AK9 NM_145025,p.P381L|ENST00000368948,p.P381L|ENST00000424296,p.P381L|uc003ptr.4,p.P381L|uc003ptn.2,p.P381L|NM_001145128,p.P381L|ENST00000285397,p.P381L retained_intron, protein_coding uc003ptr.4 nonsynonymous SNV exon12 c.C1142T p.P381L EEALKPFLLNPRPYLLPPMPGPPCK EEALKPFLLNPRLYLLPPMPGPPCK 5.0 10.0 - - 3998_6:109954238-109954238 G>A_EEALKPFLLNPRLYLLPPMPGPPCK 0.0 19:11304307-11304307 G>A 1.0 3713 MELANOMA - - - - KANK2 uc002mqo.4,p.P150L|uc002mqm.3,p.P150L|uc021upe.1,p.P150L|ENST00000586659,p.P150L|ENST00000589894,p.P150L|NM_001136191,p.P150L|ENST00000355150,p.P150L|ENST00000432929,p.P150L|uc002mqq.3,p.P150L|ENST00000589359,p.P150L|NM_015493,p.P150L retained_intron, protein_coding, processed_transcript uc021upe.1 nonsynonymous SNV exon3 c.C449T p.P150L QAATPTGLGSLTPSAAGSTASLVGV QAATPTGLGSLTLSAAGSTASLVGV 9.0 10.0 - - 3713_19:11304307-11304307 G>A_QAATPTGLGSLTLSAAGSTASLVGV 0.0 5:140743948-140743948 C>A 0.0 4235 COLORECTAL - - - - PCDHGA5 uc003lju.2,p.F17L|NM_018918,p.F17L|ENST00000518069,p.F17L|NM_032054,p.F17L|uc011das.2,p.F17L protein_coding uc011das.2 nonsynonymous SNV exon1 c.C51A p.F17L PRGWGCGELLLPFMLLGTLCEPGSG PRGWGCGELLLPLMLLGTLCEPGSG 4.0 8.0 - - 4235_5:140743948-140743948 C>A_PRGWGCGELLLPLMLLGTLCEPGSG 0.0 12:6703638-6703638 G>A 1.0 3713 MELANOMA - - - 1 CHD4 ENST00000544040,p.S760F|NM_001273,p.S767F|uc001qpo.3,p.S767F|uc001qpp.3,p.S764F|ENST00000544484,p.S764F|NM_001297553,p.S760F|ENST00000309577,p.S767F|ENST00000357008,p.S767F|uc001qpn.3,p.S760F retained_intron, protein_coding, processed_transcript uc001qpp.3 nonsynonymous SNV exon15 c.C2291T p.S764F LGKTVQTAVFLYSLYKEGHSKGPFL LGKTVQTAVFLYFLYKEGHSKGPFL 9.0 6.0 - - 3713_12:6703638-6703638 G>A_LGKTVQTAVFLYFLYKEGHSKGPFL 0.0 20:42788852-42788852 G>A 0.0 4078 GASTRIC - - - - JPH2 uc002xli.1,p.S192L|NM_020433,p.S192L|ENST00000372980,p.S192L protein_coding uc002xli.1 nonsynonymous SNV exon2 c.C575T p.S192L PASPASDGPALPSPAIPRGGFALSL PASPASDGPALPLPAIPRGGFALSL 4.0 8.0 - - 4078_20:42788852-42788852 G>A_PASPASDGPALPLPAIPRGGFALSL 0.0 13:23929383-23929383 G>C 0.0 4335 COLORECTAL - - - - SACS uc001uoq.1,p.S309R|uc001uoo.3,p.S309R|uc001uop.1,p.S243R|NM_001278055,p.S309R|uc001uon.3,p.S456R|ENST00000423156,p.S80R|NM_014363,p.S456R|ENST00000382292,p.S456R|ENST00000382298,p.S456R protein_coding, processed_transcript uc001uoq.1 nonsynonymous SNV exon4 c.C927G p.S309R AFCFLPLPPGEESSTGLPVHISGFF AFCFLPLPPGEERSTGLPVHISGFF 5.0 8.0 - - 4335_13:23929383-23929383 G>C_AFCFLPLPPGEERSTGLPVHISGFF 0.0 1:117487502-117487502 C>T 1.0 4259 COLORECTAL - - - - PTGFRN NM_020440,p.P207L|ENST00000393203,p.P207L|uc001egv.1,p.P207L protein_coding, processed_transcript uc001egv.1 nonsynonymous SNV exon3 c.C620T p.P207L SVLALTHEGRFHPGLGYEQRYHSGD SVLALTHEGRFHLGLGYEQRYHSGD 10.0 8.0 - - 4259_1:117487502-117487502 C>T_SVLALTHEGRFHLGLGYEQRYHSGD 0.0 9:135545422-135545422 C>T 0.0 3466 MELANOMA - - - - DDX31 ENST00000372153,p.R72K|ENST00000310532,p.R72K|uc004cbq.1,p.R72K|NM_022779,p.R72K|ENST00000372159,p.R72K|uc004cbs.2,p.R72K|uc004cbr.1,p.R72K|uc010mzu.1,p.R72K|NM_138620,p.R72K protein_coding, processed_transcript uc010mzu.1 nonsynonymous SNV exon1 c.G215A p.R72K TSPYSWSRSGPGRGGGAGSSRVPRG TSPYSWSRSGPGKGGGAGSSRVPRG 5.0 9.0 - - 3466_9:135545422-135545422 C>T_TSPYSWSRSGPGKGGGAGSSRVPRG 0.0 11:104874010-104874010 ->T 1.0 4244 COLORECTAL - - - - CASP5 uc010rvc.1,p.N36fs|NM_004347,p.N178fs|uc010rva.1,p.N178fs|NM_001136110,p.N36fs|ENST00000260315,p.N178fs|ENST00000444749,p.N120fs|ENST00000418434,p.N36fs|NM_001136112,p.N191fs|ENST00000526056,p.N191fs|uc010rvb.1,p.N120fs|ENST00000393141,p.N191fs|ENST00000531367,p.N36fs|NM_001136109,p.N120fs|ENST00000456094,p.N162fs|uc010ruz.1,p.N191fs protein_coding, nonsense_mediated_decay uc010rvc.1 frameshift insertion exon2 c.107dupA p.N36fs CPREEFLRLCKKNHDEIYPIKKRED CPREEFLRLCKKKS 7.0 2.0 - - 4244_11:104874010-104874010 ->T_CPREEFLRLCKKKS 0.0 16:15931836-15931836 C>T 0.0 4186 BREAST - - - 1 MYH11 uc002deb.3,p.E92K|ENST00000576790,p.E92K|uc002ddw.3,p.E92K|NM_022844,p.E92K|ENST00000452625,p.E92K|ENST00000338282,p.E92K|NM_001040113,p.E92K|uc002ddv.3,p.E92K|NM_002474,p.E92K|NM_001040114,p.E92K|ENST00000300036,p.E92K|uc002ddy.3,p.E92K|uc002ddx.3,p.E92K|ENST00000396324,p.E92K retained_intron, protein_coding, processed_transcript uc002deb.3 nonsynonymous SNV exon2 c.G274A p.E92K NPPKFSKVEDMAELTCLNEASVLHN NPPKFSKVEDMAKLTCLNEASVLHN 2.0 6.0 - - 4186_16:15931836-15931836 C>T_NPPKFSKVEDMAKLTCLNEASVLHN 0.0 1:94652129-94652129 C>T 1.0 3713 MELANOMA - - - - ARHGAP29 NM_004815,p.R569Q|ENST00000552844,p.R569Q|uc001dqk.3,p.R135Q|uc001dqj.4,p.R569Q|ENST00000260526,p.R569Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001dqk.3 nonsynonymous SNV exon4 c.G404A p.R135Q SISPGDFHRKLPRTPSSGTMSSADD SISPGDFHRKLPQTPSSGTMSSADD 3.0 8.0 - - 3713_1:94652129-94652129 C>T_SISPGDFHRKLPQTPSSGTMSSADD 0.0 20:33875094-33875096 CTC>- 0.0 4196 COLORECTAL - - - - FAM83C uc021wck.1,p.496_496del|ENST00000374408,p.496_496del|NM_178468,p.496_496del|uc002xcb.1,p.151_151del protein_coding uc021wck.1 nonframeshift deletion exon4 c.1486_1488del p.496_496del VPGTTLETVEEKEKKASPSQSRGQL VPGTTLETVEEKKKASPSQSRGQLD 3.0 5.0 - - 4196_20:33875094-33875096 CTC>-_VPGTTLETVEEKKKASPSQSRGQLD 0.0 9:141010080-141010080 G>A 0.0 4081 COLORECTAL - - - - CACNA1B uc031tfz.1,p.R1909Q|uc004coi.3,p.R1121Q|NM_000718,p.R1909Q|NM_001243812,p.R1909Q|ENST00000371357,p.R1908Q|ENST00000277549,p.R1103Q|ENST00000277551,p.R1909Q|ENST00000371372,p.R1909Q|ENST00000371363,p.R1907Q|uc031tfy.1,p.R1909Q|ENST00000371355,p.R1910Q protein_coding uc031tfz.1 nonsynonymous SNV exon42 c.G5726A p.R1909Q LEQTQPAVLRGARVFLRQKSSTSLS LEQTQPAVLRGAQVFLRQKSSTSLS 1.0 8.0 - - 4081_9:141010080-141010080 G>A_LEQTQPAVLRGAQVFLRQKSSTSLS 0.0 20:58348469-58348469 A>G 0.0 4252 COLORECTAL - - - - PHACTR3 NM_001199506,p.E255G|ENST00000355648,p.E255G|ENST00000395636,p.E255G|ENST00000541461,p.E255G|ENST00000361300,p.E185G|uc002yau.3,p.E296G|ENST00000359926,p.E293G|uc010zzw.2,p.E255G|uc002yav.3,p.E255G|NM_001199505,p.E293G|uc002yax.3,p.E185G|NM_080672,p.E296G|ENST00000395639,p.E185G|NM_183246,p.E185G|ENST00000371015,p.E296G|uc002yaw.3,p.E255G|NM_183244,p.E255G|NM_001281507,p.E255G|uc002yat.3,p.E293G retained_intron, protein_coding uc010zzw.2 nonsynonymous SNV exon6 c.A764G p.E255G VHRPLPPSRVIEELHRALATKHRQD VHRPLPPSRVIEGLHRALATKHRQD 8.0 10.0 - - 4252_20:58348469-58348469 A>G_VHRPLPPSRVIEGLHRALATKHRQD 0.0 19:4322957-4323011 CCCACCCCTCCTGCCCTGCGCCACAGGGGACACGCTGATCGACGGCGGGGAGCAT>- 0.0 4326 BREAST - - - - FSD1 NM_024333,p.G347fs|uc002maa.2,p.G160fs|uc002lzy.2,p.G347fs|ENST00000221856,p.G347fs retained_intron, protein_coding, processed_transcript uc002maa.2 frameshift deletion exon5 c.479_507del p.G160fs RDRFTAESYTVLGDTLIDGGEHYWEV RDRFTAESYTVLVLGGALRAGQQGVRRGRGLPQPGPLRATGQDGRLLVPARQQLAAGQLHGQARQQGQGAGRPRARLPGCAL 4.0 5.0 - - 4326_19:4322957-4323011 CCCACCCCTCCTGCCCTGCGCCACAGGGGACACGCTGATCGACGGCGGGGAGCAT>-_RDRFTAESYTVLVLGGALRAGQQGVRRGRGLPQPGPLRATGQDGRLLVPARQQLAAGQLHGQARQQGQGAGRPRARLPGCAL 0.0 14:81574915-81574915 G>A 1.0 4000 MELANOMA - - - 1 TSHR NM_001142626,p.G239S|uc010tvs.2,p.G239S|ENST00000554435,p.G239S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010tvs.2 nonsynonymous SNV exon9 c.G715A p.G239S GPSLLVENVAVSGKGFCKSLFSWLY GPSLLVENVAVSSKGFCKSLFSWLY 5.0 8.0 - - 4000_14:81574915-81574915 G>A_GPSLLVENVAVSSKGFCKSLFSWLY 0.0 17:48456544-48456544 G>A 1.0 3713 MELANOMA - - - - EME1 uc010dbp.2,p.A410T|ENST00000511648,p.A410T|ENST00000338165,p.A397T|NM_001166131,p.A410T|ENST00000393271,p.A410T|uc002iqs.2,p.A397T|NM_152463,p.A397T retained_intron, protein_coding, nonsense_mediated_decay uc010dbp.2 nonsynonymous SNV exon6 c.G1228A p.A410T KQTKKQQQRQPEASIGSMVSRVDAE KQTKKQQQRQPETSIGSMVSRVDAE 5.0 3.0 - - 3713_17:48456544-48456544 G>A_KQTKKQQQRQPETSIGSMVSRVDAE 0.0 1:115280677-115280677 T>G 1.0 4317 COLORECTAL - - - - CSDE1 ENST00000369530,p.E118D|ENST00000339438,p.E72D|NM_001242891,p.E118D|uc001efm.3,p.E118D|uc001efk.3,p.E72D|uc001efl.3,p.E72D|ENST00000438362,p.E118D|uc001efn.3,p.E72D|NM_001242893,p.E72D|uc001efi.3,p.E118D|NM_001242892,p.E72D|ENST00000358528,p.E72D|ENST00000534699,p.E72D|ENST00000534389,p.E72D|NM_001007553,p.E72D|ENST00000261443,p.E72D|uc009wgv.3,p.E72D|NM_007158,p.E72D|NM_001130523,p.E118D retained_intron, protein_coding, processed_transcript uc009wgv.3 nonsynonymous SNV exon3 c.A216C p.E72D LQDLKVGDDVEFEVSSDRRTGKPIA LQDLKVGDDVEFDVSSDRRTGKPIA 10.0 1.0 - - 4317_1:115280677-115280677 T>G_LQDLKVGDDVEFDVSSDRRTGKPIA 0.0 14:38061213-38061213 T>C 1.0 4240 BREAST - - - 1 FOXA1 ENST00000250448,p.Y259C|uc001wuf.4,p.Y259C|ENST00000540786,p.Y226C|NM_004496,p.Y259C|uc010tpz.3,p.Y226C protein_coding, processed_transcript, nonsense_mediated_decay uc010tpz.3 nonsynonymous SNV exon2 c.A677G p.Y226C HPDSGNMFENGCYLRRQKRFKCEKQ HPDSGNMFENGCCLRRQKRFKCEKQ 10.0 10.0 - - 4240_14:38061213-38061213 T>C_HPDSGNMFENGCCLRRQKRFKCEKQ 0.0 5:140725167-140725167 G>A 0.0 4158 COLORECTAL - - ID=COSM1650384,COSM590190;OCCURENCE=1(lung) - PCDHGA3 NM_032011,p.E523K|uc011dap.2,p.E523K|ENST00000253812,p.E523K|NM_018916,p.E523K|uc003ljm.2,p.E523K protein_coding uc011dap.2 nonsynonymous SNV exon1 c.G1567A p.E523K TGVLYALRSFDYEQFRDLKLLVTAS TGVLYALRSFDYKQFRDLKLLVTAS 4.0 5.0 - - 4158_5:140725167-140725167 G>A_TGVLYALRSFDYKQFRDLKLLVTAS 0.0 7:98562388-98562388 A>C 1.0 4196 COLORECTAL - - - 1 TRRAP NM_003496,p.E2297D|uc003upp.3,p.E2315D|uc003upr.3,p.E2014D|ENST00000355540,p.E2297D|uc011kis.2,p.E2297D|ENST00000359863,p.E2315D|NM_001244580,p.E2315D retained_intron, protein_coding uc011kis.2 nonsynonymous SNV exon46 c.A6891C p.E2297D EHLNPQAASGSTEATSGTSELVMLS EHLNPQAASGSTDATSGTSELVMLS 8.0 3.0 - - 4196_7:98562388-98562388 A>C_EHLNPQAASGSTDATSGTSELVMLS 0.0 3:52325070-52325070 A>T 1.0 3919 MELANOMA - - - - GLYCTK NM_145262,p.I158F|ENST00000477382,p.I158F|ENST00000471180,p.I31F|ENST00000461183,p.I74F|uc003ddo.3,p.I158F|ENST00000354773,p.I158F|uc003ddq.2,p.I158F|ENST00000486393,p.I158F|ENST00000473032,p.I158F|uc003ddp.1,p.I158F|ENST00000305690,p.I158F|NM_001144951,p.I158F|ENST00000436784,p.I158F retained_intron, protein_coding, nonsense_mediated_decay uc003ddq.2 nonsynonymous SNV exon3 c.A472T p.I158F LPDRDALRAALAIQQLAEGLTADDL LPDRDALRAALAFQQLAEGLTADDL 5.0 3.0 - - 3919_3:52325070-52325070 A>T_LPDRDALRAALAFQQLAEGLTADDL 0.0 8:139164248-139164248 C>T 0.0 4155 MELANOMA - - - 2 FAM135B uc003yva.3,p.G386R|ENST00000395297,p.G824R|uc003yvb.3,p.G386R|uc003yuy.3,p.G824R|ENST00000467365,p.G134R|NM_015912,p.G824R|uc003yux.3,p.G725R|ENST00000276737,p.G824R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003yvb.3 nonsynonymous SNV exon1 c.G1156A p.G386R CSQLCGDSGTDAGADHPLVEIVLDA CSQLCGDSGTDARADHPLVEIVLDA 3.0 10.0 - - 4155_8:139164248-139164248 C>T_CSQLCGDSGTDARADHPLVEIVLDA 0.0 22:50278118-50278118 T>G 1.0 4071 COLORECTAL - - - - ZBED4 NM_014838,p.L270V|ENST00000216268,p.L270V|uc003bix.2,p.L270V|uc021wrx.1,p.L270V protein_coding uc021wrx.1 nonsynonymous SNV exon1 c.T808G p.L270V LPALHYDEPAENLAEKSLPLPKSTS LPALHYDEPAENVAEKSLPLPKSTS 8.0 6.0 - - 4071_22:50278118-50278118 T>G_LPALHYDEPAENVAEKSLPLPKSTS 0.0 3:14712469-14712469 C>T 1.0 3713 MELANOMA - - - - CCDC174 uc010hej.3,p.A220V|ENST00000303688,p.A315V|ENST00000383794,p.A391V|uc003byw.3,p.A391V|NM_016474,p.A391V retained_intron, protein_coding, processed_transcript uc010hej.3 nonsynonymous SNV exon6 c.C659T p.A220V QSDLRAERDPEFAPPSDYFVGQKRT QSDLRAERDPEFVPPSDYFVGQKRT 6.0 10.0 - - 3713_3:14712469-14712469 C>T_QSDLRAERDPEFVPPSDYFVGQKRT 0.0 6:90440633-90440633 G>A 1.0 3713 MELANOMA - - - - MDN1 uc003pnn.1,p.S1651F|ENST00000369393,p.S1651F|ENST00000428876,p.S1651F|NM_014611,p.S1651F protein_coding, processed_transcript, nonsense_mediated_decay uc003pnn.1 nonsynonymous SNV exon35 c.C4952T p.S1651F LVYIDGIGSGVTSSGFGTALLARKE LVYIDGIGSGVTFSGFGTALLARKE 6.0 9.0 - - 3713_6:90440633-90440633 G>A_LVYIDGIGSGVTFSGFGTALLARKE 0.0 11:6422902-6422902 C>G 1.0 4252 COLORECTAL - - - - APBB1 NM_001257323,p.A247P|ENST00000311051,p.A467P|ENST00000533407,p.A208P|uc031pyu.1,p.A467P|ENST00000530885,p.A247P|uc001mdc.1,p.A467P|uc001mdd.4,p.A247P|NM_145689,p.A467P|ENST00000299402,p.A467P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031pyu.1 nonsynonymous SNV exon9 c.G1399C p.A467P VGRDSGRDFAYVARDKLTQMLKCHV VGRDSGRDFAYVPRDKLTQMLKCHV 8.0 7.0 - - 4252_11:6422902-6422902 C>G_VGRDSGRDFAYVPRDKLTQMLKCHV 0.0 1:64624848-64624848 G>A 1.0 4237 NSCLC - - - - ROR1 uc001dbj.3,p.M453I|NM_005012,p.M453I|ENST00000371079,p.M453I protein_coding, processed_transcript uc001dbj.3 nonsynonymous SNV exon8 c.G1359A p.M453I RQPKHVRGQNVEMSMLNAYKPKSKA RQPKHVRGQNVEISMLNAYKPKSKA 7.0 7.0 - - 4237_1:64624848-64624848 G>A_RQPKHVRGQNVEISMLNAYKPKSKA 0.0 19:2117225-2117225 C>T 1.0 4196 COLORECTAL - - ID=COSM3937962,COSM3937961,COSM3937963;OCCURENCE=1(oesophagus) - AP3D1 ENST00000356926,p.E528K|uc031riw.1,p.E347K|ENST00000355272,p.E619K|NM_003938,p.E619K|uc002luz.4,p.E619K|ENST00000350812,p.E450K|ENST00000345016,p.E619K|uc002lva.4,p.E619K|NM_001261826,p.E619K retained_intron, protein_coding, processed_transcript uc031riw.1 nonsynonymous SNV exon9 c.G1039A p.E347K VAPKAQKKVPVPEGLDLDAWINEPL VAPKAQKKVPVPKGLDLDAWINEPL 9.0 7.0 - - 4196_19:2117225-2117225 C>T_VAPKAQKKVPVPKGLDLDAWINEPL 0.0 12:57501995-57501995 G>A 1.0 3713 MELANOMA - - - 1 STAT6 ENST00000553275,p.P23S|uc009zpg.3,p.P72S|NM_001178079,p.P23S|NM_001178078,p.P23S|ENST00000554825,p.P23S|ENST00000543873,p.P23S|uc001sna.3,p.P23S|uc009zpf.3,p.P23S|ENST00000300134,p.P23S|ENST00000454075,p.P23S|ENST00000554663,p.P23S|ENST00000554764,p.P23S|ENST00000553397,p.P23S|ENST00000556155,p.P23S|ENST00000556259,p.P23S|ENST00000555849,p.P23S|uc009zpe.3,p.P23S|ENST00000553499,p.P23S|ENST00000555104,p.P23S|NM_003153,p.P23S|ENST00000557635,p.P23S retained_intron, protein_coding, nonsense_mediated_decay uc009zpg.3 nonsynonymous SNV exon2 c.C214T p.P72S PPEKVQRLYVDFPQHLRHLLGDWLE PPEKVQRLYVDFSQHLRHLLGDWLE 10.0 4.0 - - 3713_12:57501995-57501995 G>A_PPEKVQRLYVDFSQHLRHLLGDWLE 0.0 7:50468243-50468243 A>G 0.0 4110 BILE DUCT - - - 1 IKZF1 uc003toy.4,p.N451S|NM_001291837,p.N451S|ENST00000349824,p.N350S|NM_006060,p.N493S|NM_001220768,p.N406S|NM_001291839,p.N364S|ENST00000346667,p.N263S|uc022acy.1,p.N300S|NM_001291840,p.N263S|ENST00000331340,p.N493S|ENST00000357364,p.N406S|NM_001291838,p.N406S|uc011kck.2,p.N406S|NM_001220770,p.N354S|NM_001291842,p.N340S|uc022acw.1,p.N364S|uc003toz.4,p.N463S|uc022act.1,p.N396S|uc022acr.1,p.N268S|ENST00000438033,p.N406S|NM_001220771,p.N350S|NM_001220767,p.N396S|ENST00000359197,p.N451S|uc022acu.1,p.N406S|NM_001291844,p.N298S|ENST00000439701,p.N451S|uc022acz.1,p.N310S|uc003tpa.4,p.N258S|uc022acq.1,p.N350S|uc010kyx.3,p.N233S|uc022acs.1,p.N223S|uc022acx.1,p.N406S|ENST00000343574,p.N406S|NM_001291843,p.N308S|uc003tox.4,p.N451S|NM_001291841,p.N350S|uc022acv.1,p.N354S|NM_001220765,p.N451S|uc003tow.4,p.N493S retained_intron, protein_coding, processed_transcript uc022acz.1 nonsynonymous SNV exon5 c.A929G p.N310S MGCHGFRDPFECNMCGYHSQDRYEF MGCHGFRDPFECSMCGYHSQDRYEF 4.0 10.0 - - 4110_7:50468243-50468243 A>G_MGCHGFRDPFECSMCGYHSQDRYEF 0.0 9:70900911-70900911 ->A 0.0 4237 NSCLC - - ID=COSM1462702;OCCURENCE=3(large_intestine) - CBWD3 uc004agl.4,p.Q61fs protein_coding, processed_transcript, nonsense_mediated_decay uc004agl.4 frameshift insertion exon5 c.184dupA p.Q61fs LGQILETQRSSLQKKLQHVPGTQPH LGQILETQRSSLQKKTSACARNTTSP 8.0 10.0 - - 4237_9:70900911-70900911 ->A_LGQILETQRSSLQKKTSACARNTTSP 0.0 15:63967021-63967021 T>A 1.0 4071 COLORECTAL - - - - HERC1 ENST00000443617,p.S2456C|NM_003922,p.S2456C|uc002amp.3,p.S2456C retained_intron, protein_coding, nonsense_mediated_decay uc002amp.3 nonsynonymous SNV exon38 c.A7366T p.S2456C LTSDDVKSQSTTSSKSENEIASFSL LTSDDVKSQSTTCSKSENEIASFSL 9.0 9.0 - - 4071_15:63967021-63967021 T>A_LTSDDVKSQSTTCSKSENEIASFSL 0.0 7:100551602-100551602 C>T 0.0 3903 MELANOMA - - ID=COSM1722922,COSM1722921;OCCURENCE=2(NS) - MUC3A uc003uxl.1,p.S18F|ENST00000319509,p.S118F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003uxl.1 nonsynonymous SNV exon1 c.C53T p.S18F MTLRITENTPISSFSTSIVVIPETP MTLRITENTPISFFSTSIVVIPETP 3.0 1.0 - - 3903_7:100551602-100551602 C>T_MTLRITENTPISFFSTSIVVIPETP 0.0 8:82615095-82615095 T>A 1.0 3678 MELANOMA - - - - ZFAND1 uc010lzx.2,p.L207F|NM_024699,p.L214F|uc003yck.2,p.L107F|ENST00000520635,p.L107F|uc022awu.1,p.L107F|uc003ycj.2,p.L214F|ENST00000522520,p.L107F|ENST00000521287,p.L107F|NM_001170796,p.L207F|ENST00000523096,p.L207F|ENST00000220669,p.L214F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc022awu.1 nonsynonymous SNV exon7 c.A321T p.L107F LKNDNNKFTAKKLRLCHITSGEALP LKNDNNKFTAKKFRLCHITSGEALP 10.0 5.0 - - 3678_8:82615095-82615095 T>A_LKNDNNKFTAKKFRLCHITSGEALP 0.0 7:138864373-138864373 C>A 1.0 4298 COLORECTAL - - - - TTC26 ENST00000430935,p.S432R|NM_001144920,p.S432R|ENST00000464848,p.S432R|ENST00000495038,p.S301R|NM_001287512,p.S301R|uc011kqo.1,p.S401R|uc011kqq.1,p.S301R|uc011kqp.1,p.S327R|uc003vus.2,p.S432R|uc003vut.2,p.S292R|NM_001144923,p.S401R|ENST00000343187,p.S401R|ENST00000478836,p.S325R|uc011kqn.1,p.S432R|NM_024926,p.S432R|NM_001287513,p.S327R protein_coding, processed_transcript, nonsense_mediated_decay uc011kqq.1 nonsynonymous SNV exon12 c.C903A p.S301R QSEKMKNDYIYLSWLARCYIMNKKP QSEKMKNDYIYLRWLARCYIMNKKP 5.0 4.0 - - 4298_7:138864373-138864373 C>A_QSEKMKNDYIYLRWLARCYIMNKKP 0.0 5:140711926-140711926 G>A 0.0 4298 COLORECTAL - - ID=COSM1062929,COSM1062928;OCCURENCE=1(endometrium) - PCDHGA1 ENST00000378105,p.A559T|NM_018912,p.A559T|uc003lji.2,p.A559T|NM_031993,p.A559T|ENST00000517417,p.A559T|uc011dan.2,p.A559T protein_coding uc011dan.2 nonsynonymous SNV exon1 c.G1675A p.A559T SLSLFLLDQNDNAPEILYPALPTDG SLSLFLLDQNDNTPEILYPALPTDG 5.0 3.0 - - 4298_5:140711926-140711926 G>A_SLSLFLLDQNDNTPEILYPALPTDG 0.0 20:20349762-20349762 A>T 0.0 4252 COLORECTAL - - - - INSM1 ENST00000310227,p.Q284L|NM_002196,p.Q284L|uc002wrx.3,p.Q284L protein_coding uc002wrx.3 nonsynonymous SNV exon1 c.A851T p.Q284L CKEEYADPFALAQHKCSRIVRVEYR CKEEYADPFALALHKCSRIVRVEYR 3.0 7.0 CD8 - 4252_20:20349762-20349762 A>T_CKEEYADPFALALHKCSRIVRVEYR 2.0 19:31769447-31769447 C>T 0.0 4335 COLORECTAL - - ID=COSM286028,COSM286029;OCCURENCE=1(large_intestine) - TSHZ3 uc002nsy.4,p.A418T|NM_020856,p.A418T|ENST00000240587,p.A418T protein_coding, processed_transcript uc002nsy.4 nonsynonymous SNV exon2 c.G1252A p.A418T MVTGHFIKVTNSAMKKGKPIVETPV MVTGHFIKVTNSTMKKGKPIVETPV 5.0 8.0 - - 4335_19:31769447-31769447 C>T_MVTGHFIKVTNSTMKKGKPIVETPV 0.0 5:139941760-139941760 G>A 0.0 4189 MELANOMA - - - - APBB3 NM_133172,p.P184L|NM_133173,p.P184L|ENST00000511896,p.P138L|ENST00000412920,p.P184L|ENST00000358580,p.P184L|uc021yeg.1,p.P184L|ENST00000467078,p.P184L|ENST00000357560,p.P184L|uc003lgd.1,p.P184L|uc003lge.1,p.P184L|NM_133174,p.P184L|ENST00000511201,p.P184L|ENST00000356738,p.P184L|uc021yeh.1,p.P184L|ENST00000354402,p.P184L|NM_006051,p.P184L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021yeh.1 nonsynonymous SNV exon6 c.C551T p.P184L MILKKDAMSLVNPLDHSLIHCQPLV MILKKDAMSLVNLLDHSLIHCQPLV 6.0 10.0 - - 4189_5:139941760-139941760 G>A_MILKKDAMSLVNLLDHSLIHCQPLV 0.0 2:96048197-96048197 G>A 0.0 4158 COLORECTAL - - - - KCNIP3 uc002sup.3,p.A210T|NM_013434,p.A210T|NM_001034914,p.A184T|ENST00000360990,p.A188T|ENST00000468529,p.A184T|uc002suq.3,p.A184T|ENST00000295225,p.A210T retained_intron, protein_coding, processed_transcript uc002suq.3 nonsynonymous SNV exon6 c.G550A p.A184T MGRHTYPILREDAPAEHVERFFEKM MGRHTYPILREDTPAEHVERFFEKM 3.0 4.0 - - 4158_2:96048197-96048197 G>A_MGRHTYPILREDTPAEHVERFFEKM 0.0 5:90008213-90008213 C>T 0.0 4301 MELANOMA - - - - GPR98 NM_032119,p.S3051F|uc003kju.3,p.S3051F|uc003kjv.3,p.S651F|ENST00000405460,p.S3051F retained_intron, protein_coding, processed_transcript uc003kjv.3 nonsynonymous SNV exon10 c.C1952T p.S651F GDEKFQLILTNPSPGLELGKNTIAL GDEKFQLILTNPFPGLELGKNTIAL 2.0 2.0 - - 4301_5:90008213-90008213 C>T_GDEKFQLILTNPFPGLELGKNTIAL 0.0 17:7365345-7365345 G>A 1.0 4155 MELANOMA - - - - ZBTB4 NM_020899,p.P986S|ENST00000380599,p.P986S|uc002ghd.4,p.P986S|uc002ghc.4,p.P986S|NM_001128833,p.P986S|ENST00000311403,p.P986S protein_coding uc002ghd.4 nonsynonymous SNV exon4 c.C2956T p.P986S PQAAPPAPPTPPPPTLPPPIPPKGE PQAAPPAPPTPPSPTLPPPIPPKGE 8.0 8.0 - - 4155_17:7365345-7365345 G>A_PQAAPPAPPTPPSPTLPPPIPPKGE 0.0 6:16326840-16326840 G>A 1.0 2556 MELANOMA - - - - ATXN1 ENST00000244769,p.P568S|NM_000332,p.P568S|NM_001128164,p.P568S|uc003nbt.3,p.P568S|ENST00000436367,p.P568S|uc010jpi.3,p.P568S protein_coding, processed_transcript uc010jpi.3 nonsynonymous SNV exon7 c.C1702T p.P568S VVQSVASPAAAPPTLPPYFMKGSII VVQSVASPAAAPSTLPPYFMKGSII 8.0 3.0 - - 2556_6:16326840-16326840 G>A_VVQSVASPAAAPSTLPPYFMKGSII 0.0 17:3746391-3746391 ->A 0.0 4284 COLORECTAL - - - - C17orf85 NM_001114118,p.V80fs|uc010ckl.2,p.V80fs|ENST00000389005,p.V80fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ckl.2 frameshift insertion exon2 c.237dupT p.V80fs ENKAGSFITGIDVTSKEAIEKKEQR ENKAGSFITGIDCHLQGSN 9.0 8.0 - - 4284_17:3746391-3746391 ->A_ENKAGSFITGIDCHLQGSN 0.0 5:148930448-148930448 G>A 1.0 2098 MELANOMA - - - - CSNK1A1 uc003lqx.2,p.S27F|NM_001892,p.S27F|ENST00000515768,p.S27F|ENST00000515748,p.S27F|ENST00000377843,p.S27F|ENST00000523203,p.S27F|uc003lqy.2,p.S27F|NM_001025105,p.S27F|uc010jha.2,p.S27F|ENST00000261798,p.S27F|uc003lqw.2,p.S27F|NM_001271741,p.S27F protein_coding, nonsense_mediated_decay uc010jha.2 nonsynonymous SNV exon1 c.C80T p.S27F GKYKLVRKIGSGSFGDIYLAINITN GKYKLVRKIGSGLFGDIYLAINITN 10.0 9.0 CD8 dnv, p.S27F>p.S27L PR 2098_5:148930448-148930448 G>A_GKYKLVRKIGSGLFGDIYLAINITN 1.0 17:48594717-48594717 C>T 0.0 4238 COLORECTAL 0.0005 - - - MYCBPAP uc010wmr.2,p.R133C|ENST00000452039,p.R133C|ENST00000436259,p.R96C|NM_032133,p.R133C|ENST00000323776,p.R133C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wmr.2 nonsynonymous SNV exon3 c.C397T p.R133C EDKRVITQKFIIRKLKPMDPRRKVC EDKRVITQKFIICKLKPMDPRRKVC 4.0 6.0 - - 4238_17:48594717-48594717 C>T_EDKRVITQKFIICKLKPMDPRRKVC 0.0 X:23411490-23411490 A>G 0.0 4158 COLORECTAL - - - - PTCHD1 ENST00000379361,p.K619E|uc004dal.4,p.K619E|NM_173495,p.K619E protein_coding uc004dal.4 nonsynonymous SNV exon3 c.A1855G p.K619E KNFTDMLRNSFLKAPQFSHFQEDII KNFTDMLRNSFLEAPQFSHFQEDII 5.0 8.0 - - 4158_X:23411490-23411490 A>G_KNFTDMLRNSFLEAPQFSHFQEDII 0.0 17:42290243-42290243 G>A 1.0 3903 MELANOMA - - - - UBTF NM_014233,p.P202S|ENST00000393606,p.P202S|NM_001076684,p.P202S|ENST00000529383,p.P202S|ENST00000343638,p.P202S|uc010czs.3,p.P202S|ENST00000527034,p.P202S|uc002ige.2,p.P202S|uc002igc.3,p.P202S|NM_001076683,p.P202S|ENST00000526094,p.P202S|ENST00000302904,p.P202S|uc002igd.3,p.P202S|uc010czt.3,p.P202S|ENST00000533177,p.P202S|ENST00000436088,p.P202S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010czt.3 nonsynonymous SNV exon7 c.C604T p.P202S AKKSDIPEKPKTPQQLWYTHEKKVY AKKSDIPEKPKTSQQLWYTHEKKVY 9.0 5.0 - - 3903_17:42290243-42290243 G>A_AKKSDIPEKPKTSQQLWYTHEKKVY 0.0 3:170928935-170928935 C>G 0.0 3775 CERVICAL - - - - TNIK NM_001161562,p.K92N|uc003fhj.2,p.K92N|ENST00000488470,p.K92N|ENST00000436636,p.K92N|uc003fhi.2,p.K92N|NM_001161564,p.K92N|uc003fhk.2,p.K92N|ENST00000538048,p.K92N|uc003fhn.2,p.K92N|ENST00000284483,p.K92N|ENST00000475336,p.K92N|uc003fho.2,p.K92N|ENST00000357327,p.K92N|NM_001161565,p.K92N|uc003fhm.2,p.K92N|NM_015028,p.K92N|uc003fhl.2,p.K92N|NM_001161566,p.K92N|ENST00000470834,p.K92N|ENST00000369326,p.K92N|ENST00000468757,p.K66N|uc003fhh.2,p.K92N|ENST00000341852,p.K92N|NM_001161560,p.K92N|ENST00000460047,p.K92N|NM_001161561,p.K92N|NM_001161563,p.K92N retained_intron, protein_coding, processed_transcript uc003fho.2 nonsynonymous SNV exon4 c.G276C p.K92N RNIATYYGAFIKKNPPGMDDQLWLV RNIATYYGAFIKNNPPGMDDQLWLV 5.0 5.0 - - 3775_3:170928935-170928935 C>G_RNIATYYGAFIKNNPPGMDDQLWLV 0.0 8:80831334-80831334 G>A 1.0 4071 COLORECTAL - - - - MRPS28 ENST00000276585,p.L149F|ENST00000520946,p.L87F|uc003ybp.3,p.L149F|NM_014018,p.L149F|ENST00000519120,p.L67F|ENST00000521434,p.L87F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003ybp.3 nonsynonymous SNV exon3 c.C445T p.L149F GTRVRLRLLDLELTSRFLGATTDTT GTRVRLRLLDLEFTSRFLGATTDTT 8.0 10.0 CD8 - 4071_8:80831334-80831334 G>A_GTRVRLRLLDLEFTSRFLGATTDTT 2.0 17:46627893-46627902 CGGCAGGGGG>- 1.0 4266 COLORECTAL - - - - HOXB3 uc002inn.3,p.P364fs|ENST00000460160,p.P232fs|ENST00000470495,p.P364fs|ENST00000489475,p.P291fs|ENST00000498678,p.P364fs|ENST00000490677,p.P230fs|ENST00000485909,p.P232fs|ENST00000311626,p.P364fs|uc002ino.3,p.P364fs|uc010dbg.3,p.P364fs|uc010wlk.2,p.P232fs|uc010wlm.2,p.P291fs|NM_002146,p.P364fs|ENST00000472863,p.P291fs|ENST00000476342,p.P364fs|uc010wll.2,p.P291fs|uc010dbf.3,p.P364fs retained_intron, protein_coding, processed_transcript uc010wlm.2 frameshift deletion exon4 c.871_880del p.P291fs YVGGGGYADPLPPPAGPSLYGLNHL YVGGGGYADPLPAPPSMASTTFPITLPGTWTTTGRPLWRPASTTDPANPTPPTQTSPLTTRLLLRVESKKRPN 8.0 5.0 - - 4266_17:46627893-46627902 CGGCAGGGGG>-_YVGGGGYADPLPAPPSMASTTFPITLPGTWTTTGRPLWRPASTTDPANPTPPTQTSPLTTRLLLRVESKKRPN 0.0 3:195047682-195047682 G>C 1.0 4346 COLORECTAL - - - - ACAP2 ENST00000326793,p.R226G|NM_012287,p.R226G|uc003fun.4,p.R226G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003fun.4 nonsynonymous SNV exon9 c.C676G p.R226G GPYMKDLGAQLDRLVVDAAKEKREM GPYMKDLGAQLDGLVVDAAKEKREM 9.0 8.0 - - 4346_3:195047682-195047682 G>C_GPYMKDLGAQLDGLVVDAAKEKREM 0.0 15:87089288-87089288 G>A 0.0 4298 COLORECTAL - - - - AGBL1 NM_152336,p.C868Y|ENST00000441037,p.C868Y|ENST00000421325,p.C868Y|uc002blz.1,p.C868Y|ENST00000389298,p.C599Y retained_intron, protein_coding uc002blz.1 nonsynonymous SNV exon19 c.G2603A p.C868Y GHSQKKNVFLYGCSIKETLWQAACT GHSQKKNVFLYGYSIKETLWQAACT 5.0 1.0 - - 4298_15:87089288-87089288 G>A_GHSQKKNVFLYGYSIKETLWQAACT 0.0 19:20003351-20003351 C>T 1.0 3919 MELANOMA - - - - ZNF253 NM_021047,p.S432F|ENST00000589717,p.S432F|ENST00000355650,p.S356F|uc002nok.3,p.S356F|uc002noj.3,p.S432F retained_intron, protein_coding uc002nok.3 nonsynonymous SNV exon2 c.C1067T p.S356F GEKPYKCEECGKSFTASSTLTTHKR GEKPYKCEECGKFFTASSTLTTHKR 3.0 8.0 - - 3919_19:20003351-20003351 C>T_GEKPYKCEECGKFFTASSTLTTHKR 0.0 1:153984763-153984763 G>T 0.0 4110 BILE DUCT - - - - NUP210L uc009woq.3,p.F488L|uc010peh.2,p.F1579L|NM_001159484,p.F1579L|uc001fdw.3,p.F1579L|ENST00000368559,p.F1579L|ENST00000271854,p.F1579L|NM_207308,p.F1579L|ENST00000368553,p.F512L protein_coding uc010peh.2 nonsynonymous SNV exon34 c.C4737A p.F1579L KTYLTNTLNSTVFKLFITTGRNGVN KTYLTNTLNSTVLKLFITTGRNGVN 1.0 8.0 - - 4110_1:153984763-153984763 G>T_KTYLTNTLNSTVLKLFITTGRNGVN 0.0 19:10431550-10431550 C>T 0.0 4158 COLORECTAL - - - - RAVER1 ENST00000593136,p.G92S retained_intron, protein_coding, nonsense_mediated_decay ENST00000593136 nonsynonymous SNV exon4 c.G274A p.G92S PESLPEPTQPAPGQQPGGPWRWQQQ PESLPEPTQPAPSQQPGGPWRWQQQ 5.0 5.0 - - 4158_19:10431550-10431550 C>T_PESLPEPTQPAPSQQPGGPWRWQQQ 0.0 X:153580369-153580369 G>A 1.0 4281 COLORECTAL - - - 2 FLNA uc011mzn.1,p.R397W|ENST00000369850,p.R2264W|ENST00000344736,p.R2224W|ENST00000360319,p.R2256W|ENST00000444578,p.R204W|ENST00000369856,p.R397W|NM_001110556,p.R2264W|uc004fkk.2,p.R2264W|uc010nuu.1,p.R2256W|ENST00000422373,p.R2256W|NM_001456,p.R2256W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011mzn.1 nonsynonymous SNV exon13 c.C1189T p.R397W EAGVPAEFSIWTREAGAGGLAIAVE EAGVPAEFSIWTWEAGAGGLAIAVE 10.0 10.0 CD8 - 4281_X:153580369-153580369 G>A_EAGVPAEFSIWTWEAGAGGLAIAVE 2.0 11:10585760-10585760 C>T 0.0 3795 MELANOMA - - - - LYVE1 uc001miv.2,p.E83K|ENST00000256178,p.E83K|NM_006691,p.E83K protein_coding, processed_transcript, nonsense_mediated_decay uc001miv.2 nonsynonymous SNV exon2 c.G247A p.E83K KDQVETALKASFETCSYGWVGDGFV KDQVETALKASFKTCSYGWVGDGFV 7.0 10.0 - - 3795_11:10585760-10585760 C>T_KDQVETALKASFKTCSYGWVGDGFV 0.0 8:133790126-133790126 C>T 1.0 2369 MELANOMA - - - - PHF20L1 uc011lja.2,p.R18C|ENST00000315808,p.R18C|ENST00000395386,p.R18C|uc003ytr.3,p.R18C|uc003ytt.3,p.R18C|NM_016018,p.R18C|NM_198513,p.R18C|ENST00000486199,p.R18C|ENST00000395383,p.R18C|uc010mdv.3,p.R18C|NM_001277196,p.R18C|ENST00000395390,p.R18C|ENST00000361997,p.R18C|ENST00000337920,p.R18C|ENST00000395379,p.R18C|ENST00000395376,p.R18C retained_intron, protein_coding, nonsense_mediated_decay uc011lja.2 nonsynonymous SNV exon2 c.C52T p.R18C PNRPGITFEIGARLEALDYLQKWYP PNRPGITFEIGACLEALDYLQKWYP 8.0 7.0 - - 2369_8:133790126-133790126 C>T_PNRPGITFEIGACLEALDYLQKWYP 0.0 7:107423453-107423453 A>C 1.0 4196 COLORECTAL - - - - SLC26A3 uc003ves.2,p.V367G|ENST00000340010,p.V402G|ENST00000422236,p.V367G|uc003ver.2,p.V402G|NM_000111,p.V402G retained_intron, protein_coding, nonsense_mediated_decay uc003ves.2 nonsynonymous SNV exon10 c.T1100G p.V367G GFAGSTALSRSAVQESTGGKTQIAG GFAGSTALSRSAGQESTGGKTQIAG 10.0 3.0 - - 4196_7:107423453-107423453 A>C_GFAGSTALSRSAGQESTGGKTQIAG 0.0 17:7339684-7339684 A>G 1.0 4126 NSCLC - - - - TMEM102 ENST00000396568,p.D129G|uc002ggy.2,p.D129G|uc002ggx.1,p.D129G|ENST00000323206,p.D129G|NM_178518,p.D129G protein_coding uc002ggy.2 nonsynonymous SNV exon2 c.A386G p.D129G AGFTLLVPMFSLDGTELQLDLESCY AGFTLLVPMFSLGGTELQLDLESCY 6.0 4.0 - - 4126_17:7339684-7339684 A>G_AGFTLLVPMFSLGGTELQLDLESCY 0.0 4:189060944-189060944 G>A 0.0 4081 COLORECTAL - - ID=COSM209201;OCCURENCE=1(large_intestine) - TRIML1 ENST00000332517,p.A78T|NM_178556,p.A78T|uc003izm.1,p.A78T protein_coding, processed_transcript uc003izm.1 nonsynonymous SNV exon1 c.G232A p.A78T QSNERLGRLASIARQLRSQVLQSED QSNERLGRLASITRQLRSQVLQSED 1.0 10.0 - - 4081_4:189060944-189060944 G>A_QSNERLGRLASITRQLRSQVLQSED 0.0 13:107164973-107164973 G>C 1.0 4245 COLORECTAL - - - - EFNB2 uc001vqi.3,p.P104A|NM_004093,p.P104A|ENST00000245323,p.P104A protein_coding uc001vqi.3 nonsynonymous SNV exon2 c.C310G p.P104A KKENTPLLNCAKPDQDIKFTIKFQE KKENTPLLNCAKADQDIKFTIKFQE 9.0 1.0 - - 4245_13:107164973-107164973 G>C_KKENTPLLNCAKADQDIKFTIKFQE 0.0 1:40536183-40536183 A>G 1.0 4180 BREAST - - - - CAP1 ENST00000340450,p.Q399R|uc001cey.4,p.Q400R|NM_001105530,p.Q400R|ENST00000372805,p.Q400R|uc001cez.4,p.Q400R|NM_006367,p.Q400R|uc010oje.2,p.Q317R|ENST00000372792,p.Q400R|uc001cfa.4,p.Q400R|ENST00000372798,p.Q399R|ENST00000372802,p.Q399R|uc009vvz.3,p.Q400R|ENST00000372797,p.Q400R protein_coding, processed_transcript uc010oje.2 nonsynonymous SNV exon10 c.A950G p.Q317R IVEIINSKDVKVQVMGKVPTISINK IVEIINSKDVKVRVMGKVPTISINK 10.0 8.0 CD8 - 4180_1:40536183-40536183 A>G_IVEIINSKDVKVRVMGKVPTISINK 2.0 X:100747655-100747655 C>T 0.0 4189 MELANOMA - - - - ARMCX4 uc031tkd.1,p.A1360V|NM_001256155,p.A1360V|ENST00000423738,p.A1360V|uc031tkc.1,p.A1360V protein_coding, processed_transcript, nonsense_mediated_decay uc031tkd.1 nonsynonymous SNV exon1 c.C4079T p.A1360V SSGRSWADTADQASGGSRLGHVDQS SSGRSWADTADQVSGGSRLGHVDQS 5.0 10.0 - - 4189_X:100747655-100747655 C>T_SSGRSWADTADQVSGGSRLGHVDQS 0.0 20:61527623-61527623 G>A 1.0 3466 MELANOMA - - ID=COSM1028986;OCCURENCE=1(endometrium) - DIDO1 NM_033081,p.R726C|NM_001193369,p.R726C|NM_080797,p.R726C|uc002yds.2,p.R726C|ENST00000395340,p.R726C|ENST00000266070,p.R726C|NM_001193370,p.R726C|ENST00000395343,p.R726C|uc002ydr.2,p.R726C|uc002ydt.2,p.R726C|uc002ydu.2,p.R726C|ENST00000395335,p.R726C protein_coding uc002ydu.2 nonsynonymous SNV exon8 c.C2176T p.R726C FQVTDNRYKSKYRSIMFNLKDPKNQ FQVTDNRYKSKYCSIMFNLKDPKNQ 9.0 6.0 - - 3466_20:61527623-61527623 G>A_FQVTDNRYKSKYCSIMFNLKDPKNQ 0.0 13:103389769-103389769 C>A 0.0 4129 NSCLC - - - - CCDC168 NM_001146197,p.Q4426H|uc001vpm.3,p.Q4426H protein_coding uc001vpm.3 nonsynonymous SNV exon4 c.G13278T p.Q4426H TEQEKRDGHKSKQETVLFLHLPSES TEQEKRDGHKSKHETVLFLHLPSES 1.0 7.0 - - 4129_13:103389769-103389769 C>A_TEQEKRDGHKSKHETVLFLHLPSES 0.0 11:18308193-18308193 C>T 1.0 4240 BREAST - - - - HPS5 ENST00000438420,p.V814M|ENST00000349215,p.V928M|NM_181508,p.V814M|uc001moe.1,p.V814M|uc001mod.1,p.V928M|NM_007216,p.V814M|ENST00000544218,p.V114M|ENST00000537258,p.V35M|ENST00000396253,p.V814M|NM_181507,p.V928M|uc001mof.1,p.V814M retained_intron, protein_coding, processed_transcript uc001mof.1 nonsynonymous SNV exon18 c.G2440A p.V814M PESLRLDWLLLAVSLDAPPSTSTMD PESLRLDWLLLAMSLDAPPSTSTMD 7.0 9.0 - - 4240_11:18308193-18308193 C>T_PESLRLDWLLLAMSLDAPPSTSTMD 0.0 11:3128545-3128545 G>A 1.0 4078 GASTRIC - - - - OSBPL5 NM_145638,p.P268L|NM_020896,p.P336L|uc009ydw.2,p.P268L|ENST00000348039,p.P268L|uc009ydx.3,p.P360L|uc001lxk.2,p.P336L|uc010qxq.1,p.P247L|NM_001144063,p.P268L|ENST00000389989,p.P268L|uc001lxl.2,p.P268L|ENST00000263650,p.P336L|ENST00000525498,p.P247L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010qxq.1 nonsynonymous SNV exon7 c.C740T p.P247L ESGSDQSETPGAPVRRGTTYVEQVQ ESGSDQSETPGALVRRGTTYVEQVQ 9.0 9.0 - - 4078_11:3128545-3128545 G>A_ESGSDQSETPGALVRRGTTYVEQVQ 0.0 2:100194858-100194858 G>A 0.0 4081 COLORECTAL - - ID=COSM2979630;OCCURENCE=1(large_intestine) 1 AFF3 NM_001025108,p.T975M|ENST00000409236,p.T950M|uc002tag.3,p.T950M|NM_002285,p.T950M|ENST00000317233,p.T950M|ENST00000409579,p.T975M|ENST00000356421,p.T975M|uc002taf.3,p.T975M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002tag.3 nonsynonymous SNV exon17 c.C2849T p.T950M SENIPLHKSRPQTKPWSPGSNGHRD SENIPLHKSRPQMKPWSPGSNGHRD 3.0 5.0 - - 4081_2:100194858-100194858 G>A_SENIPLHKSRPQMKPWSPGSNGHRD 0.0 17:3567983-3567983 T>G 1.0 4298 COLORECTAL - - - - TAX1BP3 ENST00000225525,p.K50T|uc002fwc.3,p.K50T|NM_014604,p.K50T protein_coding uc002fwc.3 nonsynonymous SNV exon2 c.A149C p.K50T DQDPSQNPFSEDKTDKGIYVTRVSE DQDPSQNPFSEDTTDKGIYVTRVSE 8.0 7.0 CD8 - 4298_17:3567983-3567983 T>G_DQDPSQNPFSEDTTDKGIYVTRVSE 1.0 16:3255067-3255067 C>G 0.0 4196 COLORECTAL - - - - OR1F1 uc010uwu.2,p.A274G|NM_012360,p.A274G|ENST00000304646,p.A274G protein_coding uc010uwu.2 nonsynonymous SNV exon1 c.C821G p.A274G PLSSHSAEKDTMATVLYTVVTPMLN PLSSHSAEKDTMGTVLYTVVTPMLN 3.0 7.0 - - 4196_16:3255067-3255067 C>G_PLSSHSAEKDTMGTVLYTVVTPMLN 0.0 12:7355295-7355295 A>C 1.0 2556 MELANOMA - - - - PEX5 uc009zfu.2,p.I281L|ENST00000434354,p.I296L|ENST00000420616,p.I281L|NM_001131024,p.I244L|NM_001131026,p.I281L|uc001qsu.3,p.I244L|uc001qsw.3,p.I281L|NM_001131025,p.I281L|NM_001300789,p.I302L|ENST00000545574,p.I232L|ENST00000412720,p.I302L|ENST00000266563,p.I244L|NM_001131023,p.I296L|uc010sgd.2,p.I302L|uc010sgc.2,p.I296L|ENST00000455147,p.I281L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010sgd.2 nonsynonymous SNV exon9 c.A904C p.I302L ALDMEFERAKSAIESDVDFWDKLQA ALDMEFERAKSALESDVDFWDKLQA 7.0 9.0 - - 2556_12:7355295-7355295 A>C_ALDMEFERAKSALESDVDFWDKLQA 0.0 3:165547854-165547854 T>G 1.0 4213 COLORECTAL - - - - BCHE ENST00000482958,p.D323A|ENST00000264381,p.D323A|ENST00000497011,p.D323A|NM_000055,p.D323A|uc003fem.4,p.D323A protein_coding, nonsense_mediated_decay uc003fem.4 nonsynonymous SNV exon2 c.A968C p.D323A GTPLSVNFGPTVDGDFLTDMPDILL GTPLSVNFGPTVAGDFLTDMPDILL 7.0 9.0 - - 4213_3:165547854-165547854 T>G_GTPLSVNFGPTVAGDFLTDMPDILL 0.0 15:86312840-86312840 T>C 0.0 4126 NSCLC - - - - KLHL25 NM_022480,p.S68G|uc002bly.3,p.S68G|ENST00000337975,p.S68G|ENST00000536947,p.S68G|uc021stw.1,p.S68G protein_coding, processed_transcript uc021stw.1 nonsynonymous SNV exon1 c.A202G p.S68G AFPCHRAVLAASSRYFEAMFSHGLR AFPCHRAVLAASGRYFEAMFSHGLR 4.0 6.0 - - 4126_15:86312840-86312840 T>C_AFPCHRAVLAASGRYFEAMFSHGLR 0.0 16:68225261-68225261 C>T 1.0 3713 MELANOMA - - - - NFATC3 uc002evk.3,p.P897S|uc002evl.3,p.P418S|uc010vkn.2,p.P418S|uc010vlb.2,p.P418S|uc010vks.2,p.P418S|uc010vla.2,p.P418S|uc002evo.2,p.P897S|uc010vkx.2,p.P418S|uc002evn.2,p.P897S|uc010vko.2,p.P418S|uc010vkw.2,p.P418S|uc010vkr.2,p.P418S|uc010vku.2,p.P418S|ENST00000349223,p.P897S|ENST00000329524,p.P897S|uc010vlc.2,p.P418S|NM_173165,p.P897S|ENST00000346183,p.P897S|uc010vkv.2,p.P418S|NM_004555,p.P897S|uc010vky.2,p.P418S|uc010vkl.2,p.P418S|uc010vkp.2,p.P418S|uc010vkm.2,p.P418S|NM_173163,p.P897S|uc002evm.2,p.P897S|uc010vkq.2,p.P418S|uc010vkt.2,p.P418S|ENST00000575270,p.P897S|uc010vkz.2,p.P418S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vlc.2 nonsynonymous SNV exon9 c.C1252T p.P418S HCSNTGQRSLSSPVADQITGQPSSQ HCSNTGQRSLSSSVADQITGQPSSQ 7.0 4.0 - - 3713_16:68225261-68225261 C>T_HCSNTGQRSLSSSVADQITGQPSSQ 0.0 1:11562034-11562034 T>C 0.0 4258 ENDOMETRIAL - - - - PTCHD2 uc001ash.4,p.S329P|NM_020780,p.S329P|uc001asi.1,p.S329P|ENST00000389575,p.S329P|ENST00000294484,p.S329P protein_coding, processed_transcript uc001asi.1 nonsynonymous SNV exon1 c.T985C p.S329P KPHEVLKDLPLGSYSYCSPPSSLMT KPHEVLKDLPLGPYSYCSPPSSLMT 3.0 6.0 - - 4258_1:11562034-11562034 T>C_KPHEVLKDLPLGPYSYCSPPSSLMT 0.0 19:55493003-55493003 G>A 0.0 3998 MELANOMA - - - - NLRP2 ENST00000585500,p.G70E|ENST00000448584,p.G139E|ENST00000543010,p.G139E|ENST00000433772,p.G139E|NM_001174081,p.G139E|uc021vbq.1,p.G139E|ENST00000397169,p.G71E|ENST00000427260,p.G116E|uc002qij.3,p.G139E|uc010yfp.2,p.G116E|NM_017852,p.G139E|NM_001174083,p.G116E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021vbq.1 nonsynonymous SNV exon5 c.G416A p.G139E FKTEAQAFTETKGNVICLGKEVFKG FKTEAQAFTETKENVICLGKEVFKG 3.0 9.0 - - 3998_19:55493003-55493003 G>A_FKTEAQAFTETKENVICLGKEVFKG 0.0 4:48887517-48887517 T>C 1.0 4266 COLORECTAL - - - - OCIAD2 uc003gyt.3,p.Q150R|ENST00000508632,p.Q150R|NM_001014446,p.Q150R|NM_001286774,p.Q88R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003gyt.3 nonsynonymous SNV exon7 c.A449G p.Q150R KIKHGLSEKGDSQPSAS KIKHGLSEKGDSRPSAS 10.0 6.0 - - 4266_4:48887517-48887517 T>C_KIKHGLSEKGDSRPSAS 0.0 16:31414857-31414857 C>G 0.0 4346 COLORECTAL - - - - ITGAD uc002ebv.1,p.H199D|uc010vfl.1,p.H199D|NM_005353,p.H199D|uc010cap.1,p.H199D|ENST00000389202,p.H199D retained_intron, protein_coding uc010vfl.1 nonsynonymous SNV exon7 c.C595G p.H199D FALMQYSNLLKIHFTFTQFRTSPSQ FALMQYSNLLKIDFTFTQFRTSPSQ 2.0 7.0 - - 4346_16:31414857-31414857 C>G_FALMQYSNLLKIDFTFTQFRTSPSQ 0.0 7:43663437-43663437 G>C 1.0 4284 COLORECTAL - - - - STK17A ENST00000319357,p.L290F|uc003tih.3,p.L290F|NM_004760,p.L290F retained_intron, protein_coding, processed_transcript uc003tih.3 nonsynonymous SNV exon6 c.G870C p.L290F MNLSYSEEEFDVLSESAVDFIRTLL MNLSYSEEEFDVFSESAVDFIRTLL 6.0 6.0 - - 4284_7:43663437-43663437 G>C_MNLSYSEEEFDVFSESAVDFIRTLL 0.0 1:8384513-8384513 C>T 0.0 4316 COLORECTAL - - - - SLC45A1 ENST00000289877,p.R42W|uc001apb.3,p.R42W|ENST00000471889,p.R42W|NM_001080397,p.R76W|ENST00000377479,p.R76W retained_intron, protein_coding, processed_transcript uc001apb.3 nonsynonymous SNV exon1 c.C124T p.R42W GYSGSVTRHLSHRANNFKRHPKRRK GYSGSVTRHLSHWANNFKRHPKRRK 1.0 8.0 - - 4316_1:8384513-8384513 C>T_GYSGSVTRHLSHWANNFKRHPKRRK 0.0 1:186278176-186278176 C>T 1.0 4095 COLORECTAL - - - - PRG4 ENST00000367485,p.L1016F|NM_005807,p.L1109F|NM_001127709,p.L1016F|ENST00000367483,p.L1068F|ENST00000367484,p.L638F|uc009wyl.3,p.L1016F|ENST00000445192,p.L1109F|NM_001127708,p.L1068F|uc009wym.3,p.L975F|NM_001127710,p.L975F|ENST00000367486,p.L1066F|uc001gru.4,p.L1109F|uc001grt.4,p.L1068F protein_coding uc009wym.3 nonsynonymous SNV exon4 c.C2923T p.L975F AGGAEGETPHMLLRPHVFMPEVTPD AGGAEGETPHMLFRPHVFMPEVTPD 4.0 10.0 - - 4095_1:186278176-186278176 C>T_AGGAEGETPHMLFRPHVFMPEVTPD 0.0 4:128811338-128811338 C>T 1.0 3713 MELANOMA - - - - PLK4 NM_014264,p.P593S|ENST00000270861,p.P593S|NM_001190801,p.P552S|uc011cgs.2,p.P561S|NM_001190799,p.P561S|ENST00000514379,p.P552S|uc003ifo.3,p.P593S|uc011cgt.2,p.P552S|ENST00000513090,p.P561S|ENST00000507249,p.P559S|ENST00000515069,p.P515S retained_intron, protein_coding, processed_transcript uc011cgt.2 nonsynonymous SNV exon7 c.C1654T p.P552S GYQNRTLRSITSPLVAHRLKPIRQK GYQNRTLRSITSSLVAHRLKPIRQK 3.0 6.0 - - 3713_4:128811338-128811338 C>T_GYQNRTLRSITSSLVAHRLKPIRQK 0.0 15:25959146-25959146 C>A 0.0 4126 NSCLC - - - - ATP10A NM_024490,p.Q673H|uc010ayu.3,p.Q673H|ENST00000356865,p.Q673H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ayu.3 nonsynonymous SNV exon10 c.G2019T p.Q673H PTSAIASNGYSSQADNWASELAQEQ PTSAIASNGYSSHADNWASELAQEQ 5.0 7.0 - - 4126_15:25959146-25959146 C>A_PTSAIASNGYSSHADNWASELAQEQ 0.0 21:34166143-34166143 G>C 0.0 4077 BILE DUCT - - - - C21orf62 ENST00000487113,p.P197R|NM_019596,p.P197R|ENST00000536776,p.P197R|uc021wik.1,p.P197R|ENST00000382373,p.P244R|ENST00000479548,p.P197R|uc011adu.2,p.P197R|NM_001162495,p.P197R|uc011adt.2,p.P197R|NM_001162496,p.P197R|ENST00000490358,p.P197R|uc010glz.3,p.P197R protein_coding uc021wik.1 nonsynonymous SNV exon1 c.C590G p.P197R SIENVTSIANNFPDFSYFRTFPMPS SIENVTSIANNFRDFSYFRTFPMPS 1.0 9.0 - - 4077_21:34166143-34166143 G>C_SIENVTSIANNFRDFSYFRTFPMPS 0.0 2:85863205-85863205 C>A 1.0 4245 COLORECTAL - - - - USP39 uc010ysv.3,p.L224M|uc002sqg.4,p.L327M|ENST00000409025,p.L327M|NM_001256726,p.L327M|uc002sqb.4,p.L58M|NM_001256727,p.L249M|NM_001256725,p.L327M|uc010fgn.2,p.L327M|ENST00000450066,p.L224M|ENST00000409470,p.L327M|uc010fgo.4,p.L327M|uc010ysu.3,p.L249M|ENST00000323701,p.L327M|ENST00000409766,p.L327M|NM_001256728,p.L224M|uc002sqe.4,p.L327M|NM_006590,p.L327M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ysv.3 nonsynonymous SNV exon6 c.C670A p.L224M KQGDGVDFLSWFLNALHSALGGTKK KQGDGVDFLSWFMNALHSALGGTKK 9.0 3.0 - - 4245_2:85863205-85863205 C>A_KQGDGVDFLSWFMNALHSALGGTKK 0.0 1:16725304-16725304 C>T 0.0 4240 BREAST - - - - SPATA21 ENST00000335496,p.D456N|uc010occ.2,p.D433N|NM_198546,p.D456N|ENST00000540400,p.D433N|uc001ayn.3,p.D456N protein_coding, processed_transcript uc010occ.2 nonsynonymous SNV exon11 c.G1297A p.D433N QSGSQGNREHNSDSRKWLSSVPART QSGSQGNREHNSNSRKWLSSVPART 3.0 9.0 - - 4240_1:16725304-16725304 C>T_QSGSQGNREHNSNSRKWLSSVPART 0.0 10:1065733-1065735 GTG>- 1.0 4317 COLORECTAL - - - - IDI2 ENST00000277517,p.136_136del|NM_033261,p.136_136del|uc001ifv.1,p.136_136del protein_coding uc001ifv.1 nonframeshift deletion exon5 c.406_408del p.136_136del SPEDIVFMTIYHHKAKSDRIWGEHE SPEDIVFMTIYHKAKSDRIWGEHEI 1.0 6.0 - - 4317_10:1065733-1065735 GTG>-_SPEDIVFMTIYHKAKSDRIWGEHEI 0.0 14:95918626-95918626 G>A 0.0 4186 BREAST - - - - SYNE3 uc001yej.1,p.P411L|uc010avi.3,p.P411L|ENST00000557275,p.P411L|uc001yei.4,p.P411L|ENST00000554873,p.P168L|ENST00000334258,p.P411L|NM_152592,p.P411L|ENST00000553340,p.P411L retained_intron, protein_coding uc010avi.3 nonsynonymous SNV exon6 c.C1232T p.P411L LKELIVFPHNLKPLSDSVIATIQEY LKELIVFPHNLKLLSDSVIATIQEY 2.0 4.0 - - 4186_14:95918626-95918626 G>A_LKELIVFPHNLKLLSDSVIATIQEY 0.0 7:140058531-140058551 ACAGCCATTTGTTGTAGAAAC>- 0.0 4320 COLORECTAL - - - - SLC37A3 ENST00000326232,p.137_144del|NM_207113,p.137_144del|NM_001287498,p.137_144del|ENST00000484416,p.40_47del|uc011kra.1,p.137_144del|uc010lnh.3,p.137_144del|uc003vvp.3,p.137_144del|uc003vvo.3,p.137_144del|NM_032295,p.137_144del|uc011krb.1,p.109_116del|ENST00000447932,p.137_144del|ENST00000340308,p.137_144del|ENST00000477571,p.137_144del retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011krb.1 nonframeshift deletion exon5 c.326_346del p.109_116del VVFVFGALTEWLRFYNKWLYCCLWI VVFVFGALTEWLHCCLWIVNGLLQS 9.0 1.0 CD8 - 4320_7:140058531-140058551 ACAGCCATTTGTTGTAGAAAC>-_VVFVFGALTEWLHCCLWIVNGLLQS 1.0 5:134914452-134914452 G>T 1.0 4287 COLORECTAL - - - - CXCL14 uc003lay.3,p.A18D|ENST00000337225,p.A18D|NM_004887,p.A18D protein_coding uc003lay.3 nonsynonymous SNV exon1 c.C53A p.A18D RRAPPVSMRLLAAALLLLLLALYTA RRAPPVSMRLLADALLLLLLALYTA 4.0 4.0 - - 4287_5:134914452-134914452 G>T_RRAPPVSMRLLADALLLLLLALYTA 0.0 3:151148130-151148130 C>T 1.0 4213 COLORECTAL - - ID=COSM3784362;OCCURENCE=1(pancreas) - MED12L uc011bnz.2,p.T1780M|NM_053002,p.T2116M|uc003eyp.3,p.T2116M|ENST00000474524,p.T2116M|ENST00000273432,p.T1780M protein_coding, processed_transcript uc011bnz.2 nonsynonymous SNV exon36 c.C5339T p.T1780M RQGLQQTQQQQQTAALVRQLQKQLS RQGLQQTQQQQQMAALVRQLQKQLS 3.0 10.0 - - 4213_3:151148130-151148130 C>T_RQGLQQTQQQQQMAALVRQLQKQLS 0.0 X:152770240-152770240 G>A 0.0 4189 MELANOMA - - - - BGN NM_001711,p.D51N|ENST00000431891,p.D51N|ENST00000331595,p.D51N|uc004fhr.2,p.D51N protein_coding, processed_transcript uc004fhr.2 nonsynonymous SNV exon2 c.G151A p.D51N EEASGADTSGVLDPDSVTPTYSAMC EEASGADTSGVLNPDSVTPTYSAMC 10.0 10.0 - - 4189_X:152770240-152770240 G>A_EEASGADTSGVLNPDSVTPTYSAMC 0.0 4:5710044-5710044 C>T 0.0 4298 COLORECTAL - - - - EVC2 ENST00000344408,p.R66Q|uc003gij.3,p.R66Q|ENST00000344938,p.R66Q|NM_147127,p.R66Q protein_coding, nonsense_mediated_decay uc003gij.3 nonsynonymous SNV exon1 c.G197A p.R66Q PRSGPGLRIPPGRSGAGPESSTQDL PRSGPGLRIPPGQSGAGPESSTQDL 5.0 4.0 - - 4298_4:5710044-5710044 C>T_PRSGPGLRIPPGQSGAGPESSTQDL 0.0 15:32738755-32738757 CTC>- 0.0 4298 COLORECTAL - - - - GOLGA8O NM_001277308,p.429_430del|ENST00000509311,p.429_430del|uc031qrg.1,p.429_430del protein_coding uc031qrg.1 nonframeshift deletion exon15 c.1286_1288del p.429_430del LSLMALPGEGHGGEHLDSEGEEAPR LSLMALPGEGHGEHLDSEGEEAPRP 9.0 1.0 - - 4298_15:32738755-32738757 CTC>-_LSLMALPGEGHGEHLDSEGEEAPRP 0.0 X:128630792-128630792 A>C 1.0 4110 BILE DUCT - - - - SMARCA1 ENST00000371121,p.Y521D|uc004eup.4,p.Y521D|NM_001282875,p.Y521D|ENST00000371122,p.Y521D|uc004eun.4,p.Y521D|uc011muk.1,p.Y521D|ENST00000371123,p.Y521D|uc011mul.1,p.Y521D|NM_003069,p.Y521D|ENST00000450039,p.Y500D|NM_001282874,p.Y521D protein_coding, processed_transcript uc011mul.1 nonsynonymous SNV exon12 c.T1561G p.Y521D SQMTRLLDILEDYCMWRGYEYCRLD SQMTRLLDILEDDCMWRGYEYCRLD 8.0 10.0 - - 4110_X:128630792-128630792 A>C_SQMTRLLDILEDDCMWRGYEYCRLD 0.0 2:96992590-96992590 A>C 0.0 4245 COLORECTAL - - - - ITPRIPL1 uc002svy.3,p.N82T|uc010yul.2,p.N66T|NM_178495,p.N82T|ENST00000542887,p.N66T|NM_001008949,p.N74T|ENST00000536814,p.N66T|ENST00000439118,p.N74T|ENST00000420176,p.N66T|ENST00000361124,p.N82T|uc002svx.3,p.N74T|NM_001163523,p.N66T|NM_001163524,p.N66T|uc010yuk.2,p.N66T protein_coding uc010yul.2 nonsynonymous SNV exon2 c.A197C p.N66T RKRAAEQRQKAENFWTGDTSSDQLV RKRAAEQRQKAETFWTGDTSSDQLV 4.0 4.0 - - 4245_2:96992590-96992590 A>C_RKRAAEQRQKAETFWTGDTSSDQLV 0.0 2:125204405-125204405 A>T 1.0 4213 COLORECTAL - - - - CNTNAP5 uc002tno.3,p.H270L|NM_130773,p.H270L|ENST00000431078,p.H270L|uc010flu.3,p.H270L retained_intron, protein_coding, processed_transcript uc010flu.3 nonsynonymous SNV exon6 c.A809T p.H270L ATLGSLLDDQHWHSVLIERVGKQVN ATLGSLLDDQHWLSVLIERVGKQVN 3.0 5.0 - - 4213_2:125204405-125204405 A>T_ATLGSLLDDQHWLSVLIERVGKQVN 0.0 2:170042241-170042241 C>T 0.0 4278 COLORECTAL - - - - LRP2 NM_004525,p.R3206H|ENST00000263816,p.R3206H|uc002ues.3,p.R3206H retained_intron, protein_coding, processed_transcript uc002ues.3 nonsynonymous SNV exon50 c.G9617A p.R3206H NSNIEPYLIFSNRYYLRNLTIDGYF NSNIEPYLIFSNHYYLRNLTIDGYF 6.0 4.0 - - 4278_2:170042241-170042241 C>T_NSNIEPYLIFSNHYYLRNLTIDGYF 0.0 11:92533545-92533545 C>A 0.0 3919 MELANOMA - - - 2 FAT3 NM_001008781,p.H2456N|uc001pdj.4,p.H2456N|ENST00000298047,p.H2456N|ENST00000409404,p.H2456N|ENST00000525166,p.H2306N retained_intron, protein_coding, processed_transcript uc001pdj.4 nonsynonymous SNV exon9 c.C7366A p.H2456N MDSKSGVITLSNHRKQRMEPLYSLN MDSKSGVITLSNNRKQRMEPLYSLN 1.0 5.0 - - 3919_11:92533545-92533545 C>A_MDSKSGVITLSNNRKQRMEPLYSLN 0.0 5:54570829-54570829 G>A 1.0 3713 MELANOMA - - - - DHX29 uc003jpx.3,p.P813S|NM_019030,p.P813S|ENST00000251636,p.P813S retained_intron, protein_coding uc003jpx.3 nonsynonymous SNV exon15 c.C2437T p.P813S KAGGIKKYQEYIPVQTGAHADLNPF KAGGIKKYQEYISVQTGAHADLNPF 5.0 10.0 - - 3713_5:54570829-54570829 G>A_KAGGIKKYQEYISVQTGAHADLNPF 0.0 3:11301264-11301264 G>A 1.0 3466 MELANOMA - - - - HRH1 uc003bwb.4,p.E181K|uc010hdr.3,p.E181K|uc010hdt.3,p.E181K|uc021wtb.1,p.E181K|NM_001098212,p.E181K|NM_000861,p.E181K|ENST00000431010,p.E181K|uc010hds.3,p.E181K|NM_001098213,p.E181K|NM_001098211,p.E181K|ENST00000397056,p.E181K|ENST00000438284,p.E181K protein_coding uc021wtb.1 nonsynonymous SNV exon1 c.G541A p.E181K MQQTSVRREDKCETDFYDVTWFKVM MQQTSVRREDKCKTDFYDVTWFKVM 6.0 4.0 - - 3466_3:11301264-11301264 G>A_MQQTSVRREDKCKTDFYDVTWFKVM 0.0 16:1504418-1504418 C>T 1.0 4244 COLORECTAL - - ID=COSM1637474;OCCURENCE=1(bone) - CLCN7 ENST00000382745,p.V383M|NM_001114331,p.V359M|ENST00000448525,p.V359M|ENST00000262318,p.V359M|uc002clv.3,p.V383M|NM_001287,p.V383M|uc002clw.3,p.V359M retained_intron, protein_coding, processed_transcript uc002clw.3 nonsynonymous SNV exon12 c.G1075A p.V359M TIHEIPVFIAMGVVGGVLGAVFNAL TIHEIPVFIAMGMVGGVLGAVFNAL 9.0 7.0 - - 4244_16:1504418-1504418 C>T_TIHEIPVFIAMGMVGGVLGAVFNAL 0.0 1:181767893-181767893 G>A 0.0 4275 COLORECTAL - - - - CACNA1E ENST00000367570,p.G2246R|NM_000721,p.G2246R|uc009wxt.3,p.G2289R|NM_001205294,p.G2227R|ENST00000360108,p.G2270R|ENST00000357570,p.G2240R|ENST00000367573,p.G2289R|uc001gow.3,p.G2246R|ENST00000367567,p.G1853R|ENST00000358338,p.G2178R|ENST00000526775,p.G2227R|uc009wxs.3,p.G2227R|NM_001205293,p.G2289R retained_intron, protein_coding uc009wxt.3 nonsynonymous SNV exon48 c.G6865A p.G2289R QMPNGHYRRRRRGGPGPGMMCGAVN QMPNGHYRRRRRRGPGPGMMCGAVN 3.0 9.0 - - 4275_1:181767893-181767893 G>A_QMPNGHYRRRRRRGPGPGMMCGAVN 0.0 2:85857865-85857865 C>T 1.0 3466 MELANOMA - - - - USP39 NM_001256728,p.L146F|uc002sqg.4,p.L249F|uc010ysv.3,p.L146F|ENST00000409766,p.L249F|ENST00000323701,p.L249F|ENST00000409470,p.L249F|NM_001256725,p.L249F|ENST00000450066,p.L146F|uc002sqe.4,p.L249F|uc010fgn.2,p.L249F|NM_006590,p.L249F|uc010fgo.4,p.L249F|NM_001256727,p.L171F|NM_001256726,p.L249F|ENST00000409025,p.L249F|uc010ysu.3,p.L171F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ysv.3 nonsynonymous SNV exon5 c.C436T p.L146F NAVLQALSNVPPLRNYFLEEDNYKN NAVLQALSNVPPFRNYFLEEDNYKN 9.0 6.0 - - 3466_2:85857865-85857865 C>T_NAVLQALSNVPPFRNYFLEEDNYKN 0.0 3:168812989-168812989 T>C 1.0 3713 MELANOMA - - - 1 MECOM uc011bpk.1,p.Q777R|ENST00000472280,p.Q778R|ENST00000468789,p.Q777R|NM_005241,p.Q777R|NM_001164000,p.Q768R|uc003ffn.3,p.Q777R|uc003ffj.3,p.Q842R|ENST00000392736,p.Q777R|uc011bpj.1,p.Q965R|uc010hwk.1,p.Q791R|NM_001205194,p.Q777R|ENST00000433243,p.Q778R|uc011bpi.1,p.Q769R|NM_001105078,p.Q777R|uc003ffk.2,p.Q768R|ENST00000264674,p.Q842R|ENST00000494292,p.Q956R|NM_001163999,p.Q769R|NM_004991,p.Q965R|uc003ffi.3,p.Q777R|ENST00000464456,p.Q768R|ENST00000460814,p.Q768R|uc003ffl.2,p.Q928R|NM_001105077,p.Q842R retained_intron, protein_coding, processed_transcript uc011bpk.1 nonsynonymous SNV exon12 c.A2330G p.Q777R YCDRSFSISSNLQRHVRNIHNKEKP YCDRSFSISSNLRRHVRNIHNKEKP 2.0 9.0 - - 3713_3:168812989-168812989 T>C_YCDRSFSISSNLRRHVRNIHNKEKP 0.0 20:44258475-44258475 C>T 0.0 4213 COLORECTAL - - - - WFDC10A NM_080753,p.P8L|ENST00000372643,p.P8L|uc002xoz.3,p.P8L protein_coding uc002xoz.3 nonsynonymous SNV exon1 c.C23T p.P8L MAPQTLLPVLVLCVLLLQAQ MAPQTLLLVLVLCVLLLQAQ 1.0 9.0 - - 4213_20:44258475-44258475 C>T_MAPQTLLLVLVLCVLLLQAQ 0.0 17:17720579-17720579 C>T 1.0 4320 COLORECTAL - - - - SREBF1 ENST00000338854,p.E533K|uc002grr.2,p.E279K|uc002grp.2,p.E152K|uc002grt.2,p.E563K|uc002grq.2,p.E52K|ENST00000261646,p.E533K|ENST00000355815,p.E563K|NM_004176,p.E533K|NM_001005291,p.E563K|uc002gru.2,p.E533K|uc002grs.2,p.E509K|ENST00000395757,p.E279K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002gru.2 nonsynonymous SNV exon8 c.G1597A p.E533K VYHSPGRNVLGTESRDGPGWAQWLL VYHSPGRNVLGTKSRDGPGWAQWLL 9.0 10.0 - - 4320_17:17720579-17720579 C>T_VYHSPGRNVLGTKSRDGPGWAQWLL 0.0 20:49576739-49576739 G>A 0.0 3775 CERVICAL - - - - MOCS3 ENST00000244051,p.D454N|uc002xvy.2,p.D454N|NM_014484,p.D454N protein_coding uc002xvy.2 nonsynonymous SNV exon1 c.G1360A p.D454N VVGGLMAWAAKIDGTFPQY VVGGLMAWAAKINGTFPQY 5.0 5.0 - - 3775_20:49576739-49576739 G>A_VVGGLMAWAAKINGTFPQY 0.0 19:15582896-15582896 T>A 0.0 4245 COLORECTAL - - - - PGLYRP2 NM_052890,p.H383L|ENST00000292609,p.H383L|uc002nbg.3,p.H383L|uc002nbf.4,p.H383L|ENST00000340880,p.H383L protein_coding uc002nbg.3 nonsynonymous SNV exon3 c.A1148T p.H383L EFTEAFLGCPAIHPRCRWGAAPYRG EFTEAFLGCPAILPRCRWGAAPYRG 3.0 3.0 - - 4245_19:15582896-15582896 T>A_EFTEAFLGCPAILPRCRWGAAPYRG 0.0 13:49776075-49776075 C>T 1.0 3919 MELANOMA - - - - FNDC3A NM_014923,p.P987S|NM_001079673,p.P1043S|ENST00000541916,p.P1043S|ENST00000398316,p.P987S|uc001vcq.3,p.P987S|ENST00000492622,p.P1043S|uc001vcm.3,p.P1043S|NM_001278438,p.P1043S|uc001vcn.3,p.P1043S retained_intron, protein_coding, nonsense_mediated_decay uc001vcq.3 nonsynonymous SNV exon22 c.C2959T p.P987S EGPLSQEYIFTTPKSVPAALKAPKI EGPLSQEYIFTTSKSVPAALKAPKI 9.0 9.0 - - 3919_13:49776075-49776075 C>T_EGPLSQEYIFTTSKSVPAALKAPKI 0.0 19:45324009-45324009 A>G 0.0 4329 COLORECTAL - - - - BCAM ENST00000270233,p.E604G|uc002ozu.4,p.E604G|NM_005581,p.E604G retained_intron, protein_coding, nonsense_mediated_decay uc002ozu.4 nonsynonymous SNV exon14 c.A1811G p.E604G EPGLSHSGSEQPEQTGLLMGGASGG EPGLSHSGSEQPGQTGLLMGGASGG 8.0 4.0 - - 4329_19:45324009-45324009 A>G_EPGLSHSGSEQPGQTGLLMGGASGG 0.0 12:70206792-70206792 G>A 0.0 4155 MELANOMA - - - - RAB3IP uc001svm.3,p.G427R|NM_001278402,p.G221R|ENST00000551641,p.G221R|ENST00000550847,p.G134R|ENST00000247833,p.G427R|uc001svt.3,p.G221R|ENST00000553099,p.G221R|uc001svp.3,p.G443R|NM_175623,p.G443R|NM_022456,p.G427R|NM_001024647,p.G221R|ENST00000550536,p.G443R|ENST00000325555,p.G221R retained_intron, nonsense_mediated_decay, protein_coding uc001svt.3 nonsynonymous SNV exon8 c.G661A p.G221R CNFFTYIRYIQQGLVKQQDVDQMFW CNFFTYIRYIQQRLVKQQDVDQMFW 7.0 7.0 - - 4155_12:70206792-70206792 G>A_CNFFTYIRYIQQRLVKQQDVDQMFW 0.0 9:79955378-79955378 C>T 1.0 3903 MELANOMA - - - - VPS13A ENST00000376634,p.P2313L|ENST00000360280,p.P2313L|NM_001018038,p.P2313L|NM_033305,p.P2313L|uc004akr.3,p.P2313L|uc004akq.4,p.P2313L|ENST00000357409,p.P2313L|uc004akp.4,p.P2313L|NM_001018037,p.P2274L|ENST00000376636,p.P2274L|uc004aks.3,p.P2274L|NM_015186,p.P2313L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004aks.3 nonsynonymous SNV exon49 c.C6821T p.P2274L SSFNITRIVTFTPFYMIKNKSKYHI SSFNITRIVTFTLFYMIKNKSKYHI 6.0 10.0 - - 3903_9:79955378-79955378 C>T_SSFNITRIVTFTLFYMIKNKSKYHI 0.0 6:136597198-136597198 T>C 1.0 4081 COLORECTAL - - - 2 BCLAF1 NM_014739,p.T489A|uc003qgx.1,p.T489A|ENST00000531224,p.T489A|ENST00000527536,p.T489A|ENST00000527759,p.T487A|ENST00000529826,p.T489A|uc003qgy.1,p.T487A|ENST00000353331,p.T487A|ENST00000530429,p.T487A|ENST00000527613,p.T489A|uc011ede.1,p.T487A|NM_001301038,p.T487A|ENST00000392348,p.T487A|NM_001077440,p.T487A|ENST00000532384,p.T489A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011ede.1 nonsynonymous SNV exon5 c.A1459G p.T487A KHKEEDKNSERITVKKETQSPEQVK KHKEEDKNSERIAVKKETQSPEQVK 10.0 2.0 - - 4081_6:136597198-136597198 T>C_KHKEEDKNSERIAVKKETQSPEQVK 0.0 X:12736762-12736762 G>A 0.0 4259 COLORECTAL - - - - FRMPD4 uc004cuz.2,p.A1273T|NM_014728,p.A1273T|ENST00000380682,p.A1273T|uc011mij.2,p.A1265T protein_coding uc011mij.2 nonsynonymous SNV exon17 c.G3793A p.A1265T SEERAPGLPNHGATFKELHPQTEGM SEERAPGLPNHGTTFKELHPQTEGM 2.0 4.0 - - 4259_X:12736762-12736762 G>A_SEERAPGLPNHGTTFKELHPQTEGM 0.0 17:41957307-41957307 T>G 0.0 4246 COLORECTAL - - - - MPP2 uc010wim.1,p.Y388S|ENST00000377184,p.Y416S|NM_001278381,p.Y399S|ENST00000269095,p.Y399S|uc010win.1,p.Y260S|NM_001278371,p.Y388S|NM_001278370,p.Y444S|uc002ieo.1,p.Y399S|NM_001278375,p.Y388S|uc002ien.1,p.Y416S|NM_001278372,p.Y423S|NM_001278373,p.Y388S|ENST00000536246,p.Y388S|NM_001278374,p.Y260S|ENST00000520305,p.Y260S|ENST00000461854,p.Y423S|uc010wio.1,p.Y388S|ENST00000523501,p.Y388S|NM_001278376,p.Y416S|ENST00000518766,p.Y444S|NM_005374,p.Y399S|uc010wip.1,p.Y444S retained_intron, protein_coding, processed_transcript uc010wip.1 nonsynonymous SNV exon11 c.A1331C p.Y444S RRPKDSEREGQGYSFVSRGEMEADV RRPKDSEREGQGSSFVSRGEMEADV 2.0 2.0 - - 4246_17:41957307-41957307 T>G_RRPKDSEREGQGSSFVSRGEMEADV 0.0 21:47848442-47848442 G>A 0.0 4158 COLORECTAL - - - - PCNT uc002zji.4,p.R2543H|NM_006031,p.R2543H|ENST00000359568,p.R2543H|uc002zjj.3,p.R2425H retained_intron, protein_coding, processed_transcript uc002zjj.3 nonsynonymous SNV exon35 c.G7274A p.R2425H THLQNQEKLQHLRTALTSAEARGSQ THLQNQEKLQHLHTALTSAEARGSQ 6.0 9.0 - - 4158_21:47848442-47848442 G>A_THLQNQEKLQHLHTALTSAEARGSQ 0.0 5:7861353-7861353 G>A 1.0 3903 MELANOMA - - - - FASTKD3 uc011cmp.2,p.P300L|ENST00000264669,p.P598L|uc003jeb.3,p.P598L|NM_024091,p.P598L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cmp.2 nonsynonymous SNV exon6 c.C899T p.P300L DIHKRIALCIDGPKRFCSNSKHLLG DIHKRIALCIDGLKRFCSNSKHLLG 7.0 6.0 - - 3903_5:7861353-7861353 G>A_DIHKRIALCIDGLKRFCSNSKHLLG 0.0 X:12828249-12828249 G>A 1.0 4287 COLORECTAL - - ID=COSM1465490;OCCURENCE=1(large_intestine) - PRPS2 uc010nec.3,p.A108T|ENST00000461630,p.A85T protein_coding, processed_transcript uc010nec.3 nonsynonymous SNV exon3 c.G322A p.A108T AEWKNCIIVSPDAGGAKRLLSAGAT AEWKNCIIVSPDTGGAKRLLSAGAT 9.0 9.0 - - 4287_X:12828249-12828249 G>A_AEWKNCIIVSPDTGGAKRLLSAGAT 0.0 1:226349232-226349232 T>G 1.0 4335 COLORECTAL - - - - ACBD3 ENST00000366812,p.K243T|uc001hpy.3,p.K243T|NM_022735,p.K243T protein_coding, processed_transcript uc001hpy.3 nonsynonymous SNV exon4 c.A728C p.K243T RIEEERLRLEQQKQQIMAALNSQTA RIEEERLRLEQQTQQIMAALNSQTA 7.0 2.0 - - 4335_1:226349232-226349232 T>G_RIEEERLRLEQQTQQIMAALNSQTA 0.0 4:85707194-85707194 G>C 0.0 4186 BREAST - - - - WDFY3 NM_014991,p.L1334V|ENST00000295888,p.L1334V|ENST00000322366,p.L1334V|uc003hpd.3,p.L1334V retained_intron, protein_coding, processed_transcript uc003hpd.3 nonsynonymous SNV exon24 c.C4000G p.L1334V VSFGLYALSVSSLTVARIRKVYNKL VSFGLYALSVSSVTVARIRKVYNKL 6.0 4.0 - - 4186_4:85707194-85707194 G>C_VSFGLYALSVSSVTVARIRKVYNKL 0.0 1:232626694-232626694 T>C 0.0 4258 ENDOMETRIAL - - - - SIPA1L2 ENST00000366630,p.S578G|NM_020808,p.S578G|uc001hvg.3,p.S578G|ENST00000262861,p.S578G protein_coding, processed_transcript uc001hvg.3 nonsynonymous SNV exon3 c.A1732G p.S578G LKEVLEYVIPELSIQCLRQASNSPK LKEVLEYVIPELGIQCLRQASNSPK 6.0 4.0 - - 4258_1:232626694-232626694 T>C_LKEVLEYVIPELGIQCLRQASNSPK 0.0 3:88040609-88040609 G>A 1.0 4252 COLORECTAL - - - - HTR1F uc003dqr.2,p.S237N|ENST00000319595,p.S237N|NM_000866,p.S237N|uc021xbd.1,p.S237N protein_coding uc021xbd.1 nonsynonymous SNV exon1 c.G710A p.S237N VNGQVLLESGEKSTKSVSTSYVLEK VNGQVLLESGEKNTKSVSTSYVLEK 4.0 9.0 - - 4252_3:88040609-88040609 G>A_VNGQVLLESGEKNTKSVSTSYVLEK 0.0 14:105414926-105414926 C>A 0.0 4235 COLORECTAL - - - - AHNAK2 uc001ypx.2,p.V2188F|uc010axc.1,p.V2288F|NM_138420,p.V2288F|ENST00000333244,p.V2288F retained_intron, protein_coding uc010axc.1 nonsynonymous SNV exon7 c.G6862T p.V2288F DVEVSLPSVEVDVKAPGAKLDGARL DVEVSLPSVEVDFKAPGAKLDGARL 9.0 7.0 - - 4235_14:105414926-105414926 C>A_DVEVSLPSVEVDFKAPGAKLDGARL 0.0 5:140201539-140201539 C>T 0.0 4316 COLORECTAL - - - - PCDHA5 ENST00000529859,p.P60L|NM_031501,p.P60L|ENST00000378126,p.P60L|uc003lhj.1,p.P60L|NM_018908,p.P60L|uc003lhl.2,p.P60L|uc003lhk.1,p.P60L|ENST00000529619,p.P60L protein_coding uc003lhl.2 nonsynonymous SNV exon1 c.C179T p.P60L AQDLGLELAELVPRLFRVASKGRGD AQDLGLELAELVLRLFRVASKGRGD 5.0 9.0 - - 4316_5:140201539-140201539 C>T_AQDLGLELAELVLRLFRVASKGRGD 0.0 10:5435709-5435709 G>A 0.0 4326 BREAST 0.0005 - - - TUBAL3 ENST00000479328,p.P331L|NM_024803,p.P371L|ENST00000380419,p.P371L|uc001ihy.3,p.P371L|uc001ihz.3,p.P331L|NM_001171864,p.P331L protein_coding uc001ihz.3 nonsynonymous SNV exon4 c.C992T p.P331L KVGINNRPPTVMPGGDLAKVHRSIC KVGINNRPPTVMLGGDLAKVHRSIC 4.0 9.0 - - 4326_10:5435709-5435709 G>A_KVGINNRPPTVMLGGDLAKVHRSIC 0.0 11:36614963-36614963 C>G 0.0 4078 GASTRIC - - - - RAG2 NM_001243785,p.L252F|ENST00000311485,p.L252F|uc021qge.1,p.L252F|uc021qgc.1,p.L252F|NM_001243786,p.L252F|NM_000536,p.L252F|uc021qgd.1,p.L252F|uc001mwv.4,p.L252F protein_coding, processed_transcript uc021qge.1 nonsynonymous SNV exon1 c.G756C p.L252F LPLGSPAVNCTVLPGGISVSSAILT LPLGSPAVNCTVFPGGISVSSAILT 1.0 6.0 - - 4078_11:36614963-36614963 C>G_LPLGSPAVNCTVFPGGISVSSAILT 0.0 11:66258783-66258783 C>T 1.0 3678 MELANOMA - - - - DPP3 ENST00000453114,p.P243S|NM_005700,p.P243S|uc001oig.2,p.P243S|uc001oif.2,p.P243S|ENST00000360510,p.P243S|NM_130443,p.P243S|uc010rpe.2,p.P213S|NM_001256670,p.P213S|ENST00000533725,p.P141S|ENST00000531863,p.P263S|ENST00000530165,p.P213S|ENST00000541961,p.P243S|ENST00000532677,p.P262S retained_intron, protein_coding, processed_transcript uc010rpe.2 nonsynonymous SNV exon6 c.C637T p.P213S TSKLKSYEFRGSPFQVTRGDYAPIL TSKLKSYEFRGSSFQVTRGDYAPIL 8.0 10.0 - - 3678_11:66258783-66258783 C>T_TSKLKSYEFRGSSFQVTRGDYAPIL 0.0 1:228466935-228466935 G>T 0.0 4155 MELANOMA - - - - OBSCN uc009xez.2,p.A2396S|NM_001271223,p.A2825S|uc001hsq.2,p.A2825S|ENST00000366706,p.A244S|ENST00000422127,p.A2396S|ENST00000284548,p.A2396S|uc001hsp.2,p.A184S|ENST00000570156,p.A2825S|NM_001098623,p.A2396S|ENST00000359599,p.A1243S|uc001hsn.4,p.A2396S|NM_052843,p.A2396S retained_intron, protein_coding, processed_transcript uc009xez.2 nonsynonymous SNV exon27 c.G7186T p.A2396S GLQDVTVMEPAPAWFECETSIPSVR GLQDVTVMEPAPSWFECETSIPSVR 8.0 7.0 - - 4155_1:228466935-228466935 G>T_GLQDVTVMEPAPSWFECETSIPSVR 0.0 2:113832396-113832396 A>T 0.0 4301 MELANOMA - - - - IL1F10 uc002tiw.3,p.E64V|ENST00000337569,p.E72V|ENST00000341010,p.E72V|uc002tiu.3,p.E72V|ENST00000393197,p.E72V|NM_032556,p.E72V|uc002tiv.3,p.E72V|NM_173161,p.E72V retained_intron, protein_coding uc002tiw.3 nonsynonymous SNV exon1 c.A191T p.E64V GIQGGSRCLACVETEEGPSLQLEDV GIQGGSRCLACVVTEEGPSLQLEDV 1.0 9.0 - - 4301_2:113832396-113832396 A>T_GIQGGSRCLACVVTEEGPSLQLEDV 0.0 2:228882211-228882211 G>A 0.0 3903 MELANOMA - - - - SPHKAP NM_001142644,p.S1120L|uc010zlx.1,p.S1120L|uc002vpp.2,p.S1120L|NM_030623,p.S1120L|ENST00000344657,p.S1120L|ENST00000392056,p.S1120L|uc002vpq.2,p.S1120L retained_intron, protein_coding uc010zlx.1 nonsynonymous SNV exon7 c.C3359T p.S1120L QPVSRASSVSKQSSCESITDEFSRF QPVSRASSVSKQLSCESITDEFSRF 1.0 9.0 - - 3903_2:228882211-228882211 G>A_QPVSRASSVSKQLSCESITDEFSRF 0.0 15:44955682-44955682 C>T 1.0 3919 MELANOMA - - - - SPG11 NM_001160227,p.G55E|NM_025137,p.G55E|uc010uei.2,p.G55E|uc010ueh.2,p.G55E|ENST00000558319,p.G55E|ENST00000535302,p.G55E|uc001ztx.3,p.G55E|ENST00000261866,p.G55E|ENST00000427534,p.G55E|uc001zua.1,p.G55E|ENST00000559193,p.G55E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay uc010uei.2 nonsynonymous SNV exon1 c.G164A p.G55E SRAQLRTQPEALGSLTAAGSLQVLS SRAQLRTQPEALESLTAAGSLQVLS 8.0 2.0 - - 3919_15:44955682-44955682 C>T_SRAQLRTQPEALESLTAAGSLQVLS 0.0 17:48262928-48262928 G>A 1.0 3713 MELANOMA - - - 1 COL1A1 ENST00000225964,p.P1444S|NM_000088,p.P1444S|uc002iqm.3,p.P1444S retained_intron, protein_coding uc002iqm.3 nonsynonymous SNV exon51 c.C4330T p.P1444S TKTSRLPIIDVAPLDVGAPDQEFGF TKTSRLPIIDVASLDVGAPDQEFGF 10.0 2.0 - - 3713_17:48262928-48262928 G>A_TKTSRLPIIDVASLDVGAPDQEFGF 0.0 12:86373857-86373857 G>T 0.0 4213 COLORECTAL - - - - MGAT4C ENST00000552808,p.T216N|uc001tak.4,p.T216N|uc001taj.4,p.T216N|ENST00000549405,p.T216N|ENST00000547225,p.T216N|ENST00000332156,p.T216N|uc010sum.2,p.T240N|NM_013244,p.T216N|uc001tah.4,p.T216N|uc001tal.4,p.T216N|ENST00000604798,p.T216N|ENST00000393205,p.T245N|ENST00000548651,p.T216N|uc001tai.4,p.T216N protein_coding, processed_transcript uc010sum.2 nonsynonymous SNV exon6 c.C719A p.T240N VDYAFLLNFCANTSDYYVMLEDDVR VDYAFLLNFCANNSDYYVMLEDDVR 3.0 5.0 - - 4213_12:86373857-86373857 G>T_VDYAFLLNFCANNSDYYVMLEDDVR 0.0 11:133805605-133805605 G>A 0.0 4245 COLORECTAL - - - - IGSF9B ENST00000321016,p.R292W|NM_001277285,p.R292W|uc001qgy.1,p.R134W|ENST00000533871,p.R292W|uc031qfh.1,p.R292W protein_coding uc031qfh.1 nonsynonymous SNV exon7 c.C874T p.R292W VRILIDGTLIIFRVKPEDSGKYTCV VRILIDGTLIIFWVKPEDSGKYTCV 3.0 7.0 - - 4245_11:133805605-133805605 G>A_VRILIDGTLIIFWVKPEDSGKYTCV 0.0 18:34340653-34340653 A>G 0.0 4245 COLORECTAL - - - - FHOD3 NM_001281740,p.E1511G|uc021uiv.1,p.E1511G|ENST00000359247,p.E1311G|NM_025135,p.E1328G|ENST00000445677,p.E1290G|ENST00000592128,p.E307G|ENST00000590592,p.E1511G|ENST00000591635,p.E524G|ENST00000257209,p.E1328G|uc002kzs.1,p.E1328G|NM_001281739,p.E1311G|uc002kzt.1,p.E1311G|uc010dmz.1,p.E1043G retained_intron, protein_coding, processed_transcript uc021uiv.1 nonsynonymous SNV exon27 c.A4532G p.E1511G QGLSYAEDAAEHENMKAVLKTSSPS QGLSYAEDAAEHGNMKAVLKTSSPS 6.0 4.0 - - 4245_18:34340653-34340653 A>G_QGLSYAEDAAEHGNMKAVLKTSSPS 0.0 6:81053384-81053384 G>A 1.0 4155 MELANOMA - - - - BCKDHB NM_000056,p.E348K|uc003pje.2,p.E348K|ENST00000320393,p.E348K|NM_183050,p.E348K|uc003pjd.2,p.E348K|ENST00000356489,p.E348K protein_coding, processed_transcript uc003pje.2 nonsynonymous SNV exon10 c.G1042A p.E348K GFASEISSTVQEECFLNLEAPISRV GFASEISSTVQEKCFLNLEAPISRV 5.0 7.0 - - 4155_6:81053384-81053384 G>A_GFASEISSTVQEKCFLNLEAPISRV 0.0 12:7289434-7289434 C>T 0.0 3903 MELANOMA - - - - CLSTN3 ENST00000537408,p.T325I|NM_014718,p.T313I|ENST00000266546,p.T313I|uc001qss.3,p.T325I|uc001qsr.3,p.T313I retained_intron, protein_coding, processed_transcript uc001qss.3 nonsynonymous SNV exon6 c.C974T p.T325I SERALRKLCGAATGEVDLLPMPGPN SERALRKLCGAAIGEVDLLPMPGPN 7.0 2.0 - - 3903_12:7289434-7289434 C>T_SERALRKLCGAAIGEVDLLPMPGPN 0.0 2:86270117-86270117 G>A 1.0 4301 MELANOMA - - ID=COSM1326933;OCCURENCE=1(ovary) - POLR1A NM_015425,p.R1113C|uc002sqs.3,p.R1113C|ENST00000409681,p.R1113C|uc002sqt.1,p.R136C|ENST00000263857,p.R1113C|uc010ytb.2,p.R479C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ytb.2 nonsynonymous SNV exon10 c.C1435T p.R479C KALKLESENRNGRSPGTQEMLRMWY KALKLESENRNGCSPGTQEMLRMWY 7.0 9.0 - - 4301_2:86270117-86270117 G>A_KALKLESENRNGCSPGTQEMLRMWY 0.0 12:25055897-25055897 G>A 0.0 4238 COLORECTAL - - - - BCAT1 ENST00000539282,p.A9V|uc010six.2,p.A9V|NM_001178093,p.A9V protein_coding, processed_transcript uc010six.2 nonsynonymous SNV exon1 c.C26T p.A9V MASPLRSAAALARQDCSNGCS MASPLRSAVALARQDCSNGCS 2.0 5.0 - - 4238_12:25055897-25055897 G>A_MASPLRSAVALARQDCSNGCS 0.0 9:106889711-106889711 G>C 1.0 4186 BREAST - - - - SMC2 uc011lvl.2,p.D914H|ENST00000374793,p.D914H|ENST00000374787,p.D914H|uc004bbw.3,p.D914H|uc004bbv.3,p.D914H|uc004bbx.3,p.D914H|NM_001265602,p.D914H|NM_006444,p.D914H|ENST00000303219,p.D914H|ENST00000286398,p.D914H|NM_001042551,p.D914H|NM_001042550,p.D914H protein_coding, nonsense_mediated_decay uc011lvl.2 nonsynonymous SNV exon20 c.G2740C p.D914H QNNDSQLKIKELDHNISKHKREAED QNNDSQLKIKELHHNISKHKREAED 6.0 5.0 - - 4186_9:106889711-106889711 G>C_QNNDSQLKIKELHHNISKHKREAED 0.0 22:18314630-18314630 C>A 1.0 4126 NSCLC - - - - MICAL3 ENST00000441493,p.E1015D|uc002zng.4,p.E1015D|NM_015241,p.E1015D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002zng.4 nonsynonymous SNV exon21 c.G3045T p.E1015D EEEEEDYDEEEEESSEAGNQRLQQV EEEEEDYDEEEEDSSEAGNQRLQQV 6.0 9.0 - - 4126_22:18314630-18314630 C>A_EEEEEDYDEEEEDSSEAGNQRLQQV 0.0 20:3103013-3103013 C>G 1.0 4240 BREAST - - - - UBOX5 NM_014948,p.R91T|uc002why.2,p.R91T|ENST00000217173,p.R91T|ENST00000348031,p.R91T|NM_001267584,p.R91T|uc002whx.4,p.R91T|NM_199415,p.R91T|uc002whw.4,p.R91T protein_coding uc002why.2 nonsynonymous SNV exon3 c.G272C p.R91T TGLEMYTSASSSRVSWNTPQCRTLG TGLEMYTSASSSTVSWNTPQCRTLG 7.0 7.0 - - 4240_20:3103013-3103013 C>G_TGLEMYTSASSSTVSWNTPQCRTLG 0.0 8:21980025-21980025 G>A 1.0 3795 MELANOMA - - - - HR NM_005144,p.P701L|uc003xat.3,p.P701L|ENST00000312841,p.P701L|uc003xas.3,p.P701L|ENST00000381418,p.P701L|NM_018411,p.P701L retained_intron, protein_coding, processed_transcript uc003xat.3 nonsynonymous SNV exon8 c.C2102T p.P701L HCPCQADARVWAPGDAGQQKESTQK HCPCQADARVWALGDAGQQKESTQK 8.0 4.0 - - 3795_8:21980025-21980025 G>A_HCPCQADARVWALGDAGQQKESTQK 0.0 20:61430984-61430984 C>A 1.0 4196 COLORECTAL - - - - MRGBP ENST00000370487,p.R202S|NM_018270,p.R202S|uc002ydi.3,p.R202S protein_coding uc002ydi.3 nonsynonymous SNV exon5 c.C604A p.R202S NSNPSSPSAAKRRRT NSNPSSPSAAKRSRT 7.0 9.0 - - 4196_20:61430984-61430984 C>A_NSNPSSPSAAKRSRT 0.0 15:85326298-85326298 A>G 1.0 4258 ENDOMETRIAL - - - - ZNF592 ENST00000560079,p.K131R|NM_014630,p.K131R|ENST00000559607,p.K131R|uc002bld.3,p.K131R|ENST00000299927,p.K131R protein_coding, nonsense_mediated_decay uc002bld.3 nonsynonymous SNV exon4 c.A392G p.K131R SARSFPGKLEPPKSEPLPTFNQFSP SARSFPGKLEPPRSEPLPTFNQFSP 7.0 4.0 - - 4258_15:85326298-85326298 A>G_SARSFPGKLEPPRSEPLPTFNQFSP 0.0 3:51677977-51677977 C>T 1.0 3678 MELANOMA - - - - RAD54L2 uc011bdt.2,p.L813F|uc003dbj.3,p.L139F|uc003dbh.3,p.L402F|NM_015106,p.L813F|ENST00000296477,p.L507F|uc011bdu.2,p.L507F|ENST00000409535,p.L813F retained_intron, protein_coding uc011bdu.2 nonsynonymous SNV exon11 c.C1519T p.L507F FNDPSNLTTWLFLLSTRAGCLGVNL FNDPSNLTTWLFFLSTRAGCLGVNL 7.0 3.0 - - 3678_3:51677977-51677977 C>T_FNDPSNLTTWLFFLSTRAGCLGVNL 0.0 11:7960263-7960263 C>T 0.0 2591 MELANOMA - - - - OR10A3 uc010rbi.2,p.E269K|ENST00000360759,p.E269K|NM_001003745,p.E269K protein_coding uc010rbi.2 nonsynonymous SNV exon1 c.G805A p.E269K MTYLQPKSGYSPETKKLISLAYTLL MTYLQPKSGYSPKTKKLISLAYTLL 1.0 9.0 - - 2591_11:7960263-7960263 C>T_MTYLQPKSGYSPKTKKLISLAYTLL 0.0 12:120241121-120241121 G>A 1.0 3713 MELANOMA - - - - CIT NM_001206999,p.S395L|NM_007174,p.S395L|ENST00000392521,p.S395L|ENST00000261833,p.S395L|uc001txj.2,p.S395L|uc001txi.2,p.S395L retained_intron, protein_coding, processed_transcript uc001txj.2 nonsynonymous SNV exon10 c.C1184T p.S395L DDTSNFDEPEKNSWVSSSPCQLSPS DDTSNFDEPEKNLWVSSSPCQLSPS 3.0 8.0 - - 3713_12:120241121-120241121 G>A_DDTSNFDEPEKNLWVSSSPCQLSPS 0.0 3:105377882-105377882 C>T 1.0 3713 MELANOMA - - - 1 CBLB uc003dwc.3,p.E961K|ENST00000264122,p.E961K|ENST00000407712,p.E176K|uc011bhi.2,p.E939K|ENST00000394027,p.E939K|NM_170662,p.E961K|uc003dwa.3,p.E176K|ENST00000394030,p.E300K retained_intron, protein_coding uc011bhi.2 nonsynonymous SNV exon18 c.G2815A p.E939K VKRALEIAQNNVEVARSILREFAFP VKRALEIAQNNVKVARSILREFAFP 8.0 3.0 - - 3713_3:105377882-105377882 C>T_VKRALEIAQNNVKVARSILREFAFP 0.0 1:146672753-146672753 C>G 1.0 4237 NSCLC - - - - FMO5 NM_001144829,p.W388C|uc001eph.4,p.W388C|ENST00000254090,p.W388C|uc001epi.2,p.W388C|NM_001461,p.W388C|ENST00000441068,p.W388C protein_coding, processed_transcript, nonsense_mediated_decay uc001epi.2 nonsynonymous SNV exon7 c.G1164C p.W388C GAIMPISELQGRWATQVFKGLKTLP GAIMPISELQGRCATQVFKGLKTLP 8.0 1.0 - - 4237_1:146672753-146672753 C>G_GAIMPISELQGRCATQVFKGLKTLP 0.0 12:49444738-49444738 G>A 1.0 4189 MELANOMA - - - 1 KMT2D NM_003482,p.P910S|uc001rta.4,p.P910S|ENST00000301067,p.P910S retained_intron, protein_coding, processed_transcript uc001rta.4 nonsynonymous SNV exon10 c.C2728T p.P910S PALSEPGEPPLSPLPEELPLSPSGE PALSEPGEPPLSSLPEELPLSPSGE 8.0 7.0 - - 4189_12:49444738-49444738 G>A_PALSEPGEPPLSSLPEELPLSPSGE 0.0 6:25915765-25915765 G>C 0.0 4158 COLORECTAL - - - - SLC17A2 NM_001286123,p.D391E|uc011dkb.2,p.D391E|ENST00000265425,p.D391E|ENST00000377850,p.D391E protein_coding uc011dkb.2 nonsynonymous SNV exon9 c.C1173G p.D391E LLILIPGTSNLCDSGFIINTLDIAP LLILIPGTSNLCESGFIINTLDIAP 1.0 9.0 - - 4158_6:25915765-25915765 G>C_LLILIPGTSNLCESGFIINTLDIAP 0.0 19:55773981-55773981 G>A 1.0 4180 BREAST - - - - HSPBP1 ENST00000433386,p.R359W|uc002qjx.3,p.R405W|NM_001297600,p.R405W|ENST00000376343,p.R257W|uc002qkd.3,p.R359W|ENST00000255631,p.R359W|NM_012267,p.R359W|uc002qkc.3,p.R359W|NM_001130106,p.R359W|ENST00000587922,p.R359W protein_coding uc002qkd.3 nonsynonymous SNV exon9 c.C1075T p.R359W TCFSSPADDSMDR TCFSSPADDSMDW 9.0 8.0 - - 4180_19:55773981-55773981 G>A_TCFSSPADDSMDW 0.0 9:139101101-139101101 G>A 1.0 4071 COLORECTAL 0.0037 - - - QSOX2 ENST00000358701,p.R524W|uc010nbi.2,p.R524W|NM_181701,p.R524W protein_coding uc010nbi.2 nonsynonymous SNV exon12 c.C1570T p.R524W NGRLAGHLSEDPRFPKLQWPTPDLC NGRLAGHLSEDPWFPKLQWPTPDLC 5.0 5.0 CD8 - 4071_9:139101101-139101101 G>A_NGRLAGHLSEDPWFPKLQWPTPDLC 2.0 6:157505561-157505561 C>T 1.0 3879 MELANOMA - - - 1 ARID1B uc003qqo.3,p.P1181L|ENST00000367148,p.P1221L|NM_017519,p.P1168L|ENST00000350026,p.P1168L|ENST00000275248,p.P1163L|uc003qqn.3,p.P1221L|ENST00000414678,p.P690L|uc003qqp.3,p.P1168L|ENST00000346085,p.P1181L|NM_020732,p.P1181L retained_intron, protein_coding, processed_transcript uc003qqp.3 nonsynonymous SNV exon12 c.C3503T p.P1168L TGDTKKQPKLQPPSPANSGSLQGPQ TGDTKKQPKLQPLSPANSGSLQGPQ 9.0 2.0 - - 3879_6:157505561-157505561 C>T_TGDTKKQPKLQPLSPANSGSLQGPQ 0.0 12:121598721-121598721 C>T 0.0 4329 COLORECTAL - - ID=COSM1359427;OCCURENCE=1(large_intestine) - P2RX7 NM_002562,p.T127M|uc001tzn.3,p.T37M|ENST00000377162,p.T127M|ENST00000541564,p.T127M|ENST00000261826,p.T127M|ENST00000535250,p.T37M|uc001tzm.3,p.T127M|ENST00000546057,p.T127M|ENST00000535600,p.T127M retained_intron, protein_coding, nonsense_mediated_decay uc001tzn.3 nonsynonymous SNV exon5 c.C110T p.T37M EQRLCPEYPTRRTLCSSDRGCKKGW EQRLCPEYPTRRMLCSSDRGCKKGW 5.0 3.0 - - 4329_12:121598721-121598721 C>T_EQRLCPEYPTRRMLCSSDRGCKKGW 0.0 5:86672380-86672380 G>C 1.0 4240 BREAST - - - - RASA1 ENST00000274376,p.E728Q|uc003kix.3,p.E551Q|uc011ctv.2,p.E561Q|uc010jaw.3,p.E550Q|uc003kiw.3,p.E728Q|NM_022650,p.E551Q|ENST00000512763,p.E561Q|uc011ctw.2,p.E562Q|ENST00000506290,p.E562Q|ENST00000456692,p.E551Q|NM_002890,p.E728Q retained_intron, protein_coding, nonsense_mediated_decay uc011ctw.2 nonsynonymous SNV exon17 c.G1684C p.E562Q KIMPEEEYSEFKELILQKELHVVYA KIMPEEEYSEFKQLILQKELHVVYA 8.0 9.0 - - 4240_5:86672380-86672380 G>C_KIMPEEEYSEFKQLILQKELHVVYA 0.0 3:81586139-81586139 G>A 1.0 3713 MELANOMA 0.0005 - - - GBE1 uc021xax.1,p.R535C|ENST00000429644,p.R576C|ENST00000489715,p.R535C|uc021xav.1,p.R576C|NM_000158,p.R576C retained_intron, protein_coding, processed_transcript uc021xax.1 nonsynonymous SNV exon13 c.C1603T p.R535C RRQFHLTDDDLLRYKFLNNFDRDMN RRQFHLTDDDLLCYKFLNNFDRDMN 4.0 2.0 - - 3713_3:81586139-81586139 G>A_RRQFHLTDDDLLCYKFLNNFDRDMN 0.0 19:57089220-57089220 C>T 1.0 2369 MELANOMA - - - - ZNF470 ENST00000330619,p.H475Y|ENST00000391709,p.H475Y|NM_001001668,p.H475Y|uc002qnl.4,p.H475Y protein_coding, processed_transcript uc002qnl.4 nonsynonymous SNV exon6 c.C1423T p.H475Y SHRGSLTLHQRVHTGEKPYECKECG SHRGSLTLHQRVYTGEKPYECKECG 6.0 8.0 - - 2369_19:57089220-57089220 C>T_SHRGSLTLHQRVYTGEKPYECKECG 0.0 10:92508612-92508612 T>C 1.0 3713 MELANOMA - - - - HTR7 NM_019859,p.R427G|uc001kha.3,p.R427G|ENST00000336152,p.R427G protein_coding uc001kha.3 nonsynonymous SNV exon2 c.A1279G p.R427G MHEALKLAERPERPEFVLRACTRRV MHEALKLAERPEGPEFVLRACTRRV 2.0 7.0 - - 3713_10:92508612-92508612 T>C_MHEALKLAERPEGPEFVLRACTRRV 0.0 10:46967469-46967469 C>T 1.0 4287 COLORECTAL - - ID=COSM1347897,COSM1347898,COSM1347896;OCCURENCE=1(large_intestine) - SYT15 ENST00000512997,p.R87H|uc001jdz.2,p.R203H|ENST00000374325,p.R203H|ENST00000374321,p.R203H|uc001jea.3,p.R203H|uc001jeb.3,p.R81H|NM_181519,p.R203H|ENST00000503753,p.R203H|NM_031912,p.R203H|ENST00000374323,p.R256H protein_coding, processed_transcript uc001jeb.3 nonsynonymous SNV exon3 c.G242A p.R81H PDERRFLQSKTKRKTSNPQFDEHFI PDERRFLQSKTKHKTSNPQFDEHFI 4.0 9.0 - - 4287_10:46967469-46967469 C>T_PDERRFLQSKTKHKTSNPQFDEHFI 0.0 1:2252842-2252842 C>T 0.0 4301 MELANOMA - - - - MORN1 uc001ajb.1,p.E492K|ENST00000378531,p.E492K|NM_024848,p.E492K retained_intron, protein_coding uc001ajb.1 nonsynonymous SNV exon14 c.G1474A p.E492K SSSWQAAHSCTPEPPAPR SSSWQAAHSCTPKPPAPR 7.0 3.0 - - 4301_1:2252842-2252842 C>T_SSSWQAAHSCTPKPPAPR 0.0 8:41166361-41166361 G>C 0.0 4129 NSCLC - - - - SFRP1 NM_003012,p.H106Q|ENST00000220772,p.H106Q|uc003xnt.3,p.H106Q protein_coding uc003xnt.3 nonsynonymous SNV exon1 c.C318G p.H106Q ASSWVPLLNKNCHAGTQVFLCSLFA ASSWVPLLNKNCQAGTQVFLCSLFA 3.0 7.0 - - 4129_8:41166361-41166361 G>C_ASSWVPLLNKNCQAGTQVFLCSLFA 0.0 X:12938926-12938926 A>C 0.0 4266 COLORECTAL - - - - TLR8 NM_138636,p.L589F|ENST00000218032,p.L589F|NM_016610,p.L607F|uc004cvd.3,p.L607F|uc004cve.3,p.L589F|ENST00000311912,p.L607F protein_coding uc004cve.3 nonsynonymous SNV exon2 c.A1767C p.L589F LEFIQNFTNLKVLNLSHNNIYTLTD LEFIQNFTNLKVFNLSHNNIYTLTD 4.0 7.0 - - 4266_X:12938926-12938926 A>C_LEFIQNFTNLKVFNLSHNNIYTLTD 0.0 17:64731637-64731637 G>A 1.0 3678 MELANOMA - - ID=COSM3820296;OCCURENCE=1(breast) - PRKCA uc002jfp.1,p.E363K|ENST00000413366,p.E363K|uc002jfo.1,p.E234K|NM_002737,p.E363K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002jfp.1 nonsynonymous SNV exon10 c.G1087A p.E363K GKVMLADRKGTEELYAIKILKKDVV GKVMLADRKGTEKLYAIKILKKDVV 6.0 6.0 - - 3678_17:64731637-64731637 G>A_GKVMLADRKGTEKLYAIKILKKDVV 0.0 6:29054625-29054625 A>C 0.0 4326 BREAST - - - - OR2B3 NM_001005226,p.V134G|ENST00000377173,p.V134G|uc003nlx.3,p.V134G protein_coding uc003nlx.3 nonsynonymous SNV exon1 c.T401G p.V134G RYVAVCRPLHYVVIMNYWFCLRMAA RYVAVCRPLHYVGIMNYWFCLRMAA 1.0 5.0 - - 4326_6:29054625-29054625 A>C_RYVAVCRPLHYVGIMNYWFCLRMAA 0.0 6:52103567-52103567 C>T 0.0 4095 COLORECTAL - - - - IL17F ENST00000336123,p.R72H|uc003pal.1,p.R18H|uc003pam.1,p.R72H|NM_052872,p.R72H retained_intron, protein_coding uc003pam.1 nonsynonymous SNV exon2 c.G215A p.R72H GIINENQRVSMSRNIESRSTSPWNY GIINENQRVSMSHNIESRSTSPWNY 3.0 7.0 - - 4095_6:52103567-52103567 C>T_GIINENQRVSMSHNIESRSTSPWNY 0.0 3:9027277-9027277 C>T 0.0 4186 BREAST - - - 2 SRGAP3 NM_014850,p.V1076M|NM_001033117,p.V1052M|ENST00000360413,p.V1052M|uc003brf.2,p.V1076M|uc003brg.2,p.V1052M|ENST00000383836,p.V1076M retained_intron, protein_coding, processed_transcript uc003brg.2 nonsynonymous SNV exon22 c.G3154A p.V1052M VQHRSSSSSSSGVGSPAVTPTEKMF VQHRSSSSSSSGMGSPAVTPTEKMF 4.0 8.0 - - 4186_3:9027277-9027277 C>T_VQHRSSSSSSSGMGSPAVTPTEKMF 0.0 14:51464776-51464776 G>A 0.0 4346 COLORECTAL - - - - TRIM9 NM_015163,p.T532M|uc001wyx.4,p.T532M|ENST00000298355,p.T532M retained_intron, protein_coding, processed_transcript uc001wyx.4 nonsynonymous SNV exon7 c.C1595T p.T532M GVSPYSKTLVLQTSEVAWFAFDPGS GVSPYSKTLVLQMSEVAWFAFDPGS 3.0 1.0 - - 4346_14:51464776-51464776 G>A_GVSPYSKTLVLQMSEVAWFAFDPGS 0.0 9:135271871-135271871 A>C 1.0 4345 COLORECTAL - - - - TTF1 uc004cbl.3,p.L602R|NM_007344,p.L602R|NM_001205296,p.L87R|ENST00000334270,p.L602R|uc004cbm.3,p.L87R protein_coding, processed_transcript uc004cbm.3 nonsynonymous SNV exon4 c.T260G p.L87R LHIGRNIARPWKLIYYRAKKMFDVN LHIGRNIARPWKRIYYRAKKMFDVN 5.0 3.0 - - 4345_9:135271871-135271871 A>C_LHIGRNIARPWKRIYYRAKKMFDVN 0.0 19:36398149-36398149 G>A 0.0 4213 COLORECTAL - - - - TYROBP NM_003332,p.R83C|uc021uta.1,p.R72C|NM_001173514,p.R72C|uc002ocm.3,p.R83C|ENST00000544690,p.R72C|ENST00000262629,p.R83C retained_intron, protein_coding, nonsense_mediated_decay uc021uta.1 nonsynonymous SNV exon3 c.C214T p.R72C GRGAAEAATRKQRITETESPYQELQ GRGAAEAATRKQCITETESPYQELQ 10.0 8.0 - - 4213_19:36398149-36398149 G>A_GRGAAEAATRKQCITETESPYQELQ 0.0 2:220404548-220404548 G>A 1.0 3784 MELANOMA - - - - CHPF uc002vmc.4,p.R629C|ENST00000243776,p.R629C|NM_001195731,p.R467C|ENST00000535926,p.R467C|NM_024536,p.R629C|uc010zlh.2,p.R467C protein_coding uc010zlh.2 nonsynonymous SNV exon4 c.C1399T p.R467C DTVLTPDFLNRCRMHAISGWQAFFP DTVLTPDFLNRCCMHAISGWQAFFP 9.0 2.0 - - 3784_2:220404548-220404548 G>A_DTVLTPDFLNRCCMHAISGWQAFFP 0.0 7:158738280-158738280 C>T 1.0 3713 MELANOMA - - - - WDR60 uc010lqw.3,p.A636V|ENST00000454771,p.A134V|uc003woe.4,p.A1004V|ENST00000407559,p.A1004V|NM_018051,p.A1004V retained_intron, protein_coding, nonsense_mediated_decay uc010lqw.3 nonsynonymous SNV exon20 c.C1907T p.A636V VAKQQVSPNRLVAMAAVGEPEKAGG VAKQQVSPNRLVVMAAVGEPEKAGG 7.0 8.0 - - 3713_7:158738280-158738280 C>T_VAKQQVSPNRLVVMAAVGEPEKAGG 0.0 20:13029636-13029636 C>T 0.0 3466 MELANOMA - - - - SPTLC3 ENST00000399002,p.S54L|uc002woc.3,p.S54L|uc002wod.1,p.S54L|ENST00000434210,p.S54L|ENST00000378194,p.S54L|ENST00000450297,p.S27L|NM_018327,p.S54L protein_coding, processed_transcript uc002wod.1 nonsynonymous SNV exon2 c.C161T p.S54L GKPHFYDKLIVESFEEAPLHVMVFT GKPHFYDKLIVELFEEAPLHVMVFT 4.0 5.0 - - 3466_20:13029636-13029636 C>T_GKPHFYDKLIVELFEEAPLHVMVFT 0.0 14:96730546-96730546 G>A 0.0 3903 MELANOMA - - - - BDKRB1 uc001yfh.3,p.R176Q|ENST00000216629,p.R176Q|ENST00000553356,p.R176Q|NM_000710,p.R176Q|uc021sbj.1,p.R176Q protein_coding, processed_transcript uc021sbj.1 nonsynonymous SNV exon1 c.G527A p.R176Q VGGLLSIPTFLLRSIQAVPDLNITA VGGLLSIPTFLLQSIQAVPDLNITA 1.0 8.0 - - 3903_14:96730546-96730546 G>A_VGGLLSIPTFLLQSIQAVPDLNITA 0.0 9:140110812-140110812 G>A 1.0 4278 COLORECTAL - - - - NDOR1 ENST00000458322,p.A573T|ENST00000344894,p.A580T|NM_001144028,p.A573T|NM_014434,p.A580T|uc011mes.2,p.A573T|ENST00000371521,p.A589T|uc004clw.3,p.A580T|NM_001144026,p.A589T|uc004clx.3,p.A589T protein_coding uc011mes.2 nonsynonymous SNV exon14 c.G1717A p.A573T QEEGGLCSPDAAAYLARLQQTRRFQ QEEGGLCSPDAATYLARLQQTRRFQ 6.0 9.0 - - 4278_9:140110812-140110812 G>A_QEEGGLCSPDAATYLARLQQTRRFQ 0.0 20:3654065-3654065 G>T 0.0 4284 COLORECTAL - - - - ADAM33 NM_001282447,p.P357T|NM_025220,p.P357T|uc002wir.1,p.P357T|ENST00000350009,p.P357T|ENST00000356518,p.P357T|NM_153202,p.P357T|uc010zqg.1,p.P369T|uc002wit.3,p.P357T|uc002wiu.3,p.P357T|ENST00000379861,p.P357T protein_coding, processed_transcript uc010zqg.1 nonsynonymous SNV exon11 c.C1105A p.P369T HEIGHSLGLSHDPDGCCVEAAAESG HEIGHSLGLSHDTDGCCVEAAAESG 3.0 9.0 - - 4284_20:3654065-3654065 G>T_HEIGHSLGLSHDTDGCCVEAAAESG 0.0 3:178916924-178916924 C>T 1.0 4320 COLORECTAL - - ID=COSM163485,COSM1484857;OCCURENCE=1(NS),1(breast) 1 PIK3CA NM_006218,p.P104L|ENST00000468036,p.P104L|uc003fjk.3,p.P104L|ENST00000263967,p.P104L retained_intron, protein_coding uc003fjk.3 nonsynonymous SNV exon2 c.C311T p.P104L LRLFQPFLKVIEPVGNREEKILNRE LRLFQPFLKVIELVGNREEKILNRE 7.0 10.0 - - 4320_3:178916924-178916924 C>T_LRLFQPFLKVIELVGNREEKILNRE 0.0 13:35615209-35615209 G>A 1.0 4000 MELANOMA - - - 2 NBEA ENST00000379939,p.R145Q|ENST00000310336,p.R145Q|uc021ric.1,p.R145Q|NM_015678,p.R145Q|ENST00000400445,p.R145Q|uc021rid.1,p.R145Q|ENST00000540320,p.R145Q protein_coding, processed_transcript uc021rid.1 nonsynonymous SNV exon2 c.G434A p.R145Q QAEIWSMFTAILRKSVRNLQTSTEV QAEIWSMFTAILQKSVRNLQTSTEV 6.0 4.0 - - 4000_13:35615209-35615209 G>A_QAEIWSMFTAILQKSVRNLQTSTEV 0.0 9:95480988-95480988 G>A 1.0 4335 COLORECTAL - - - - BICD2 NM_001003800,p.R647C|ENST00000375512,p.R647C|ENST00000356884,p.R647C|uc004aso.1,p.R647C|uc004asp.1,p.R647C|NM_015250,p.R647C protein_coding uc004asp.1 nonsynonymous SNV exon5 c.C1939T p.R647C RDQIKHLQAAVDRTTELSRQRIASQ RDQIKHLQAAVDCTTELSRQRIASQ 6.0 10.0 - - 4335_9:95480988-95480988 G>A_RDQIKHLQAAVDCTTELSRQRIASQ 0.0 X:49019235-49019235 C>T 0.0 3775 CERVICAL - - - - MAGIX uc010nio.1,p.P3L|uc010nin.1,p.P3L|ENST00000425661,p.P3L|uc004dmt.2,p.P3L|ENST00000412696,p.P3L protein_coding, processed_transcript uc010nio.1 nonsynonymous SNV exon1 c.C8T p.P3L MEPRTGGAANPKGSR MELRTGGAANPKGSR 4.0 5.0 - - 3775_X:49019235-49019235 C>T_MELRTGGAANPKGSR 0.0 13:109562389-109562389 G>T 0.0 4259 COLORECTAL - - - - MYO16 uc010agk.2,p.V606F|ENST00000457511,p.V96F|uc001vqu.1,p.V384F|ENST00000251041,p.V584F|uc001vqt.1,p.V584F|ENST00000356711,p.V584F|ENST00000357550,p.V584F|NM_001198950,p.V606F|uc010tjh.1,p.V96F|NM_015011,p.V584F protein_coding, processed_transcript uc010tjh.1 nonsynonymous SNV exon4 c.G286T p.V96F RIYTYLLEKSRLVSQPLGQSNFLIF RIYTYLLEKSRLFSQPLGQSNFLIF 2.0 5.0 - - 4259_13:109562389-109562389 G>T_RIYTYLLEKSRLFSQPLGQSNFLIF 0.0 3:113785082-113785082 C>T 1.0 4326 BREAST - - - - QTRTD1 uc003eay.4,p.H70Y|ENST00000482307,p.H70Y|NM_001256835,p.H82Y|uc003eaz.4,p.H82Y|ENST00000472599,p.H84Y|ENST00000281273,p.H70Y|NM_024638,p.H70Y|ENST00000485050,p.H82Y retained_intron, protein_coding, processed_transcript uc003eaz.4 nonsynonymous SNV exon3 c.C244T p.H82Y AMAQLTLSSLAEHHEVLTEYKEGVG AMAQLTLSSLAEYHEVLTEYKEGVG 9.0 4.0 - - 4326_3:113785082-113785082 C>T_AMAQLTLSSLAEYHEVLTEYKEGVG 0.0 22:20073722-20073722 C>T 1.0 3879 MELANOMA - - - 2 DGCR8 NM_022720,p.S79F|uc002zri.3,p.S79F|NM_001190326,p.S79F|uc010grz.3,p.S79F|ENST00000457069,p.S79F|ENST00000351989,p.S79F|ENST00000407755,p.S79F|ENST00000383024,p.S79F retained_intron, protein_coding uc010grz.3 nonsynonymous SNV exon2 c.C236T p.S79F FNFYGASLLSKGSFSKGRLLIDPNC FNFYGASLLSKGFFSKGRLLIDPNC 8.0 5.0 - - 3879_22:20073722-20073722 C>T_FNFYGASLLSKGFFSKGRLLIDPNC 0.0 22:25623887-25623887 C>T 0.0 4213 COLORECTAL 0.0005 - - - CRYBB2 NM_000496,p.R81C|uc003abp.1,p.R81C|ENST00000398215,p.R81C protein_coding uc003abp.1 nonsynonymous SNV exon4 c.C241T p.R81C GEQFVFEKGEYPRWDSWTSSRRTDS GEQFVFEKGEYPCWDSWTSSRRTDS 5.0 10.0 - - 4213_22:25623887-25623887 C>T_GEQFVFEKGEYPCWDSWTSSRRTDS 0.0 12:56827705-56827705 C>T 1.0 3713 MELANOMA - - - - TIMELESS uc001slf.2,p.V35M|ENST00000229201,p.V35M|ENST00000553532,p.V35M|uc001slg.2,p.V35M|NM_003920,p.V35M|ENST00000554616,p.V35M retained_intron, protein_coding uc001slg.2 nonsynonymous SNV exon3 c.G103A p.V35M DTYHKEPDCLESVKDLIRYLRHEDE DTYHKEPDCLESMKDLIRYLRHEDE 3.0 7.0 - - 3713_12:56827705-56827705 C>T_DTYHKEPDCLESMKDLIRYLRHEDE 0.0 5:148612798-148612798 C>T 0.0 4258 ENDOMETRIAL - - - - ABLIM3 uc003lqc.1,p.R275W|NM_014945,p.R275W|ENST00000356541,p.R275W|ENST00000506113,p.R275W|ENST00000508983,p.R275W|uc003lpy.2,p.R275W|uc003lqe.1,p.R275W|uc003lqd.1,p.R275W|NM_001301028,p.R275W|NM_001301015,p.R275W|ENST00000504238,p.R275W|uc003lqf.3,p.R275W|uc003lqb.3,p.R275W|uc003lpz.1,p.R275W|NM_001301018,p.R275W|ENST00000326685,p.R275W|ENST00000309868,p.R275W|uc003lqa.1,p.R283W|NM_001301027,p.R283W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003lqf.3 nonsynonymous SNV exon9 c.C823T p.R275W QAARAEKKLKHRRTSETSISPPGSS QAARAEKKLKHRWTSETSISPPGSS 4.0 8.0 - - 4258_5:148612798-148612798 C>T_QAARAEKKLKHRWTSETSISPPGSS 0.0 11:31113031-31113031 T>G 0.0 4335 COLORECTAL - - - - DCDC5,DCDC1 ENST00000597505,p.T716P|uc009yjl.1,p.T92P|uc001msu.2,p.T335P|uc009yjk.1,p.T164P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009yjl.1 nonsynonymous SNV exon7 c.A274C p.T92P ITKTGMILSRAITQGCLAIGHPIRV ITKTGMILSRAIPQGCLAIGHPIRV 5.0 1.0 - - 4335_11:31113031-31113031 T>G_ITKTGMILSRAIPQGCLAIGHPIRV 0.0 16:89958640-89958640 G>T 1.0 4078 GASTRIC - - - - TCF25 ENST00000263346,p.W218C|NM_014972,p.W218C|ENST00000565196,p.W196C|ENST00000561958,p.W206C|uc002fpb.2,p.W218C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002fpb.2 nonsynonymous SNV exon6 c.G654T p.W218C PRQRQRVYPKCTWLTTPKSTWPRYS PRQRQRVYPKCTCLTTPKSTWPRYS 10.0 9.0 - - 4078_16:89958640-89958640 G>T_PRQRQRVYPKCTCLTTPKSTWPRYS 0.0 3:39230120-39230120 A>G 0.0 4258 ENDOMETRIAL - - - - XIRP1 uc003cji.3,p.F273L|ENST00000396251,p.F273L|uc003cjk.2,p.F273L|ENST00000340369,p.F273L|NM_194293,p.F273L|uc021wvz.1,p.F273L|NM_001198621,p.F273L protein_coding uc021wvz.1 nonsynonymous SNV exon1 c.T817C p.F273L IQSNAVRSARWLFETRPLDAINQDP IQSNAVRSARWLLETRPLDAINQDP 4.0 9.0 - - 4258_3:39230120-39230120 A>G_IQSNAVRSARWLLETRPLDAINQDP 0.0 20:8717692-8717692 T>G 1.0 3713 MELANOMA - - - - PLCB1 ENST00000378641,p.F687L|uc002wna.4,p.F687L|ENST00000338037,p.F687L|uc010zrb.1,p.F586L|uc002wnd.1,p.F264L|NM_015192,p.F687L|NM_182734,p.F687L|ENST00000378637,p.F687L|uc002wnc.1,p.F586L|uc002wnb.4,p.F687L protein_coding, processed_transcript, nonsense_mediated_decay uc010zrb.1 nonsynonymous SNV exon20 c.T1758G p.F586L ANTLSVKIISGQFLSDKKVGTYVEV ANTLSVKIISGQLLSDKKVGTYVEV 1.0 9.0 - - 3713_20:8717692-8717692 T>G_ANTLSVKIISGQLLSDKKVGTYVEV 0.0 8:101014555-101014555 G>A 0.0 4077 BILE DUCT - - - - RGS22 ENST00000523287,p.R708W|uc003yjb.1,p.R889W|NM_015668,p.R889W|ENST00000517828,p.R204W|NM_001286692,p.R877W|uc022azf.1,p.R278W|NM_001286693,p.R708W|uc003yjc.1,p.R877W|ENST00000360863,p.R889W|uc003yja.1,p.R708W|ENST00000523437,p.R877W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc022azf.1 nonsynonymous SNV exon7 c.C832T p.R278W MDLMCWTDIEQFRRITYRDRNQRKA MDLMCWTDIEQFWRITYRDRNQRKA 2.0 3.0 - - 4077_8:101014555-101014555 G>A_MDLMCWTDIEQFWRITYRDRNQRKA 0.0 7:127991332-127991332 C>T 0.0 4213 COLORECTAL - - - - PRRT4 ENST00000446477,p.G760R|NM_001174164,p.G760R|ENST00000435512,p.G554R|ENST00000535159,p.G760R|uc022aky.1,p.G760R protein_coding uc022aky.1 nonsynonymous SNV exon6 c.G2278A p.G760R QGPAFEDALPGLGLYRTASLGTGGR QGPAFEDALPGLRLYRTASLGTGGR 2.0 9.0 - - 4213_7:127991332-127991332 C>T_QGPAFEDALPGLRLYRTASLGTGGR 0.0 1:220826691-220826691 G>A 1.0 4037 NSCLC - - - - MARK1 uc010pun.2,p.R662H|ENST00000366918,p.R640H|NM_001286126,p.R662H|ENST00000402574,p.R527H|NM_001286128,p.R640H|uc001hmm.4,p.R640H protein_coding, processed_transcript uc010pun.2 nonsynonymous SNV exon16 c.G1985A p.R662H TGIISKITSKFVRRSTSGEPKERDK TGIISKITSKFVHRSTSGEPKERDK 6.0 10.0 - - 4037_1:220826691-220826691 G>A_TGIISKITSKFVHRSTSGEPKERDK 0.0 5:140308584-140308584 G>A 0.0 4298 COLORECTAL - - ID=COSM241074;OCCURENCE=1(prostate) - PCDHAC1 NM_031882,p.V703M|uc003lig.1,p.V703M|uc003lih.2,p.V703M|ENST00000409700,p.V703M|ENST00000253807,p.V703M|NM_018898,p.V703M protein_coding uc003lih.2 nonsynonymous SNV exon1 c.G2107A p.V703M ISFLFLGCLLFFVCTKLHQSPGCCA ISFLFLGCLLFFMCTKLHQSPGCCA 2.0 3.0 - - 4298_5:140308584-140308584 G>A_ISFLFLGCLLFFMCTKLHQSPGCCA 0.0 12:40836893-40836893 G>A 0.0 3795 MELANOMA - - - - MUC19 ENST00000425730,p.E726K retained_intron, protein_coding, processed_transcript ENST00000425730 nonsynonymous SNV exon26 c.G2176A p.E726K CQYSFLEDYCGHENGTFRILTESVP CQYSFLEDYCGHKNGTFRILTESVP 2.0 9.0 - - 3795_12:40836893-40836893 G>A_CQYSFLEDYCGHKNGTFRILTESVP 0.0 12:58001393-58001393 G>C 1.0 3775 CERVICAL - - - - DTX3 ENST00000337737,p.Q249H|ENST00000551632,p.Q252H|ENST00000550300,p.Q37H|uc001soy.1,p.Q242H|uc001sox.1,p.Q242H|NM_001286245,p.Q252H|uc001sow.1,p.Q249H|ENST00000548804,p.Q249H|ENST00000548198,p.Q249H|NM_178502,p.Q249H|NM_001286246,p.Q249H protein_coding uc001soy.1 nonsynonymous SNV exon3 c.G726C p.Q242H TIVIQYVFPPGVQGAEHPNPGVRYP TIVIQYVFPPGVHGAEHPNPGVRYP 8.0 7.0 - - 3775_12:58001393-58001393 G>C_TIVIQYVFPPGVHGAEHPNPGVRYP 0.0 3:153943651-153943651 C>T 1.0 3903 MELANOMA - - ID=COSM445831,COSM445832,COSM445833;OCCURENCE=1(breast) - ARHGEF26 uc011boh.1,p.P648S|NM_001251962,p.P648S|NM_001251963,p.P648S|NM_015595,p.P648S|ENST00000496710,p.P648S|ENST00000465093,p.P648S|uc011bog.1,p.P648S|ENST00000356448,p.P648S|uc021xgc.1,p.P648S protein_coding, processed_transcript, nonsense_mediated_decay uc021xgc.1 nonsynonymous SNV exon11 c.C1942T p.P648S INSQLEFKIKPFPLVSSSRWLVKRG INSQLEFKIKPFSLVSSSRWLVKRG 5.0 9.0 - - 3903_3:153943651-153943651 C>T_INSQLEFKIKPFSLVSSSRWLVKRG 0.0 12:75816743-75816743 G>A 0.0 4284 COLORECTAL - - - - GLIPR1L2 uc001sxr.2,p.R215H|NM_001270396,p.R215H|ENST00000378692,p.R108H|uc001sxq.2,p.R108H|ENST00000441218,p.R150H|ENST00000550916,p.R215H protein_coding uc001sxr.2 nonsynonymous SNV exon4 c.G644A p.R215H YEPGIFCTRCGRRDKCTDFLCSNAD YEPGIFCTRCGRHDKCTDFLCSNAD 4.0 7.0 - - 4284_12:75816743-75816743 G>A_YEPGIFCTRCGRHDKCTDFLCSNAD 0.0 12:122359536-122359536 C>T 0.0 4329 COLORECTAL - - - - WDR66 uc021rfh.1,p.R109C|uc009zxk.3,p.R109C|ENST00000288912,p.R109C|NM_001178003,p.R109C|NM_144668,p.R109C|ENST00000397454,p.R109C retained_intron, protein_coding, processed_transcript uc021rfh.1 nonsynonymous SNV exon2 c.C325T p.R109C TVEPQEVTASMIRLETQITDSQSIT TVEPQEVTASMICLETQITDSQSIT 5.0 9.0 - - 4329_12:122359536-122359536 C>T_TVEPQEVTASMICLETQITDSQSIT 0.0 18:77477934-77477934 G>A 0.0 3998 MELANOMA - - - - CTDP1 NM_004715,p.G779R|ENST00000299543,p.G779R|ENST00000591598,p.G711R|ENST00000075430,p.G779R|NM_048368,p.G779R|uc002lnh.2,p.G779R|NM_001202504,p.G660R|uc021ult.1,p.G660R|uc010drd.2,p.G779R|uc002lni.2,p.G779R retained_intron, protein_coding, processed_transcript uc021ult.1 nonsynonymous SNV exon10 c.G1978A p.G660R PGPEVRIYDSNTGKLIRTGARGPPA PGPEVRIYDSNTRKLIRTGARGPPA 7.0 9.0 - - 3998_18:77477934-77477934 G>A_PGPEVRIYDSNTRKLIRTGARGPPA 0.0 16:4016326-4016326 G>A 1.0 3713 MELANOMA - - - - ADCY9 NM_001116,p.P1171L|ENST00000294016,p.P1171L|uc002cvx.3,p.P1171L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002cvx.3 nonsynonymous SNV exon11 c.C3512T p.P1171L FNFKLRVGFNHGPLTAGVIGTTKLL FNFKLRVGFNHGLLTAGVIGTTKLL 5.0 2.0 - - 3713_16:4016326-4016326 G>A_FNFKLRVGFNHGLLTAGVIGTTKLL 0.0 2:25374825-25374825 G>A 1.0 4110 BILE DUCT - - - - EFR3B NM_014971,p.R745Q|ENST00000403714,p.R745Q|ENST00000405108,p.R597Q|uc010eyh.3,p.R745Q|ENST00000402191,p.R710Q|ENST00000264719,p.R580Q protein_coding uc010eyh.3 nonsynonymous SNV exon21 c.G2234A p.R745Q SVAVEEQERERRRQVVEKFQKAPFE SVAVEEQERERRQQVVEKFQKAPFE 3.0 10.0 - - 4110_2:25374825-25374825 G>A_SVAVEEQERERRQQVVEKFQKAPFE 0.0 13:21563000-21563000 G>A 1.0 4155 MELANOMA - - - - LATS2 NM_014572,p.P307S|ENST00000382592,p.P307S|uc001unr.4,p.P307S|ENST00000542899,p.P307S|uc009zzs.3,p.P307S protein_coding, processed_transcript uc009zzs.3 nonsynonymous SNV exon4 c.C919T p.P307S GGPPGAGLAFPPPAAGLYVPHPHHK GGPPGAGLAFPPSAAGLYVPHPHHK 5.0 4.0 - - 4155_13:21563000-21563000 G>A_GGPPGAGLAFPPSAAGLYVPHPHHK 0.0 1:196438197-196438197 C>T 1.0 3998 MELANOMA - - - - KCNT2 ENST00000367433,p.G129E|uc001gte.1,p.G129E|ENST00000367431,p.G129E|ENST00000294725,p.G129E|NM_001287820,p.G129E|uc001gtd.1,p.G129E|NM_001287819,p.G129E|uc009wyu.3,p.G129E|uc001gtf.1,p.G129E|NM_198503,p.G129E protein_coding, processed_transcript uc009wyu.3 nonsynonymous SNV exon6 c.G386A p.G129E FETILLGYLSYKGNIWEQILRIPFI FETILLGYLSYKENIWEQILRIPFI 6.0 1.0 - - 3998_1:196438197-196438197 C>T_FETILLGYLSYKENIWEQILRIPFI 0.0 8:18490147-18490147 G>A 1.0 3998 MELANOMA - - - - PSD3 NM_015310,p.H796Y|ENST00000440756,p.H798Y|NM_206909,p.H262Y|ENST00000286485,p.H262Y|uc003wyx.4,p.H125Y|uc003wza.3,p.H796Y|ENST00000523619,p.H731Y|uc003wyz.3,p.H97Y|uc003wyy.3,p.H262Y|ENST00000327040,p.H796Y|ENST00000428502,p.H125Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003wza.3 nonsynonymous SNV exon11 c.C2386T p.H796Y AVYKSGFLARKIHADMDGKKTPRGK AVYKSGFLARKIYADMDGKKTPRGK 10.0 9.0 - - 3998_8:18490147-18490147 G>A_AVYKSGFLARKIYADMDGKKTPRGK 0.0 X:63411274-63411274 ->CGGGC 1.0 4316 COLORECTAL - - - 1 AMER1 uc004dvo.3,p.R631fs|ENST00000403336,p.R631fs|ENST00000374869,p.R631fs|ENST00000330258,p.R631fs|NM_152424,p.R631fs|uc022byb.1,p.R631fs protein_coding uc022byb.1 frameshift insertion exon1 c.1892_1893insGCCCG p.R631fs HGREARTREAQAREVRCRETQVRET HGREARTREAQARPERFVVERLKSERPRPGRRSPS 6.0 9.0 - - 4316_X:63411274-63411274 ->CGGGC_HGREARTREAQARPERFVVERLKSERPRPGRRSPS 0.0 13:39265382-39265382 G>T 0.0 3775 CERVICAL - - - - FREM2 ENST00000280481,p.D1301Y|NM_207361,p.D1301Y|uc001uwv.3,p.D1301Y protein_coding, processed_transcript uc001uwv.3 nonsynonymous SNV exon1 c.G3901T p.D1301Y EKTVLIIVIPVDDETPRMTINNGLE EKTVLIIVIPVDYETPRMTINNGLE 1.0 7.0 - - 3775_13:39265382-39265382 G>T_EKTVLIIVIPVDYETPRMTINNGLE 0.0 11:60704359-60704359 A>G 1.0 3903 MELANOMA - - - - TMEM132A ENST00000453848,p.R1018G|NM_017870,p.R1019G|NM_178031,p.R1018G|uc001nqi.3,p.R1019G|ENST00000005286,p.R1019G|uc001nqj.3,p.R1018G retained_intron, protein_coding, processed_transcript uc001nqj.3 nonsynonymous SNV exon11 c.A3052G p.R1018G LKDPEELRNYMERIRGSS LKDPEELRNYMEGIRGSS 9.0 4.0 - - 3903_11:60704359-60704359 A>G_LKDPEELRNYMEGIRGSS 0.0 19:38934234-38934234 G>A 0.0 2359 MELANOMA - - - - RYR1 NM_001042723,p.G103S|uc002oit.3,p.G103S|NM_000540,p.G103S|ENST00000355481,p.G103S|ENST00000360985,p.G103S|ENST00000359596,p.G103S|uc002oiu.3,p.G103S retained_intron, protein_coding, nonsense_mediated_decay uc002oiu.3 nonsynonymous SNV exon4 c.G307A p.G103S SSQGGGHRTLLYGHAILLRHAHSRM SSQGGGHRTLLYSHAILLRHAHSRM 3.0 2.0 - - 2359_19:38934234-38934234 G>A_SSQGGGHRTLLYSHAILLRHAHSRM 0.0 6:138202176-138202176 C>T 1.0 4000 MELANOMA - - - 1 TNFAIP3 uc031spw.1,p.S698L|uc031spv.1,p.S698L|NM_006290,p.S698L|NM_001270507,p.S698L|uc003qhr.4,p.S698L|ENST00000237289,p.S698L|NM_001270508,p.S698L|uc003qhs.4,p.S698L protein_coding, processed_transcript uc031spw.1 nonsynonymous SNV exon9 c.C2093T p.S698L FHEAKRTEEQLRSSQRRDVPRTTQS FHEAKRTEEQLRLSQRRDVPRTTQS 10.0 6.0 - - 4000_6:138202176-138202176 C>T_FHEAKRTEEQLRLSQRRDVPRTTQS 0.0 7:73461078-73461078 C>G 0.0 3775 CERVICAL - - - 2 ELN uc003tzn.3,p.I208M|NM_001278915,p.I208M|NM_001278914,p.I203M|ENST00000429192,p.I213M|ENST00000357036,p.I213M|NM_001278939,p.I208M|NM_001278912,p.I208M|uc003tzv.3,p.I198M|uc003tzx.3,p.I198M|ENST00000252034,p.I208M|NM_001278917,p.I198M|ENST00000438906,p.I186M|NM_001278918,p.I164M|ENST00000380576,p.I208M|uc003tzu.3,p.I213M|ENST00000458204,p.I198M|ENST00000358929,p.I208M|uc003tzt.3,p.I213M|ENST00000414324,p.I203M|ENST00000380562,p.I208M|ENST00000320399,p.I208M|NM_000501,p.I208M|ENST00000428787,p.I126M|NM_001081752,p.I198M|uc003tzy.3,p.I203M|uc003tzw.3,p.I208M|uc003tzs.3,p.I208M|NM_001081753,p.I213M|uc011kff.2,p.I208M|ENST00000417091,p.I174M|NM_001081754,p.I213M|ENST00000445912,p.I208M|ENST00000380575,p.I198M|NM_001081755,p.I208M|uc003tzp.3,p.I164M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011kff.2 nonsynonymous SNV exon12 c.C624G p.I208M GGPQPGVPLGYPIKAPKLPGGYGLP GGPQPGVPLGYPMKAPKLPGGYGLP 10.0 9.0 - - 3775_7:73461078-73461078 C>G_GGPQPGVPLGYPMKAPKLPGGYGLP 0.0 9:14801809-14801809 G>A 0.0 4149 OVARIAN - - - - FREM1 ENST00000380875,p.P1179S|uc003zlm.3,p.P1179S|ENST00000380880,p.P1179S|NM_144966,p.P1179S|ENST00000380881,p.P1180S|ENST00000422223,p.P1179S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003zlm.3 nonsynonymous SNV exon21 c.C3535T p.P1179S DSSIISAVDLDIPQDALLFSITQKP DSSIISAVDLDISQDALLFSITQKP 3.0 8.0 - - 4149_9:14801809-14801809 G>A_DSSIISAVDLDISQDALLFSITQKP 0.0 1:158064546-158064546 C>T 1.0 3919 MELANOMA - - - - KIRREL ENST00000368173,p.P653L|NM_001286349,p.P537L|ENST00000360089,p.P473L|ENST00000359209,p.P637L|uc009wsq.3,p.P473L|ENST00000392272,p.P534L|ENST00000368172,p.P451L|uc010pib.2,p.P537L|uc001frn.4,p.P637L|ENST00000416935,p.P537L|uc001fro.4,p.P451L|NM_018240,p.P637L protein_coding uc010pib.2 nonsynonymous SNV exon13 c.C1610T p.P537L YRAPGPARFDGRPSSRLSHSSGYAQ YRAPGPARFDGRLSSRLSHSSGYAQ 10.0 7.0 - - 3919_1:158064546-158064546 C>T_YRAPGPARFDGRLSSRLSHSSGYAQ 0.0 8:143784578-143784578 A>C 0.0 4298 COLORECTAL - - - - LY6K uc011ljx.2,p.Q85H|ENST00000519387,p.Q85H|NM_001160355,p.Q85H protein_coding, processed_transcript uc011ljx.2 nonsynonymous SNV exon3 c.A255C p.Q85H TVLRWLCSDGETQARGEAVSPGRAH TVLRWLCSDGETHARGEAVSPGRAH 3.0 3.0 - - 4298_8:143784578-143784578 A>C_TVLRWLCSDGETHARGEAVSPGRAH 0.0 6:99729152-99729152 T>G 1.0 4078 GASTRIC - - - - FAXC NM_032511,p.E373A|uc003ppi.4,p.E93A|ENST00000538471,p.E93A|uc003ppj.4,p.E373A|ENST00000389677,p.E373A protein_coding, processed_transcript uc003ppj.4 nonsynonymous SNV exon6 c.A1118C p.E373A FSFYSRTETFEDEGAENSFSRTPDT FSFYSRTETFEDAGAENSFSRTPDT 5.0 6.0 - - 4078_6:99729152-99729152 T>G_FSFYSRTETFEDAGAENSFSRTPDT 0.0 2:38301661-38301661 C>T 0.0 4278 COLORECTAL - - - - CYP1B1 uc002rqo.2,p.D291N|ENST00000260630,p.D291N|NM_000104,p.D291N|ENST00000407341,p.D291N protein_coding, processed_transcript uc002rqo.2 nonsynonymous SNV exon2 c.G871A p.D291N HCESLRPGAAPRDMMDAFILSAEKK HCESLRPGAAPRNMMDAFILSAEKK 9.0 10.0 - - 4278_2:38301661-38301661 C>T_HCESLRPGAAPRNMMDAFILSAEKK 0.0 19:55494669-55494669 G>A 0.0 4252 COLORECTAL - - ID=COSM295159;OCCURENCE=1(large_intestine) - NLRP2 ENST00000391721,p.V511I|NM_001174083,p.V512I|uc010esn.3,p.V511I|NM_017852,p.V535I|NM_001174081,p.V535I|ENST00000537859,p.V513I|ENST00000543010,p.V535I|ENST00000427260,p.V512I|uc010eso.3,p.V532I|uc002qij.3,p.V535I|ENST00000538819,p.V511I|uc021vbq.1,p.V535I|ENST00000339757,p.V513I|NM_001174082,p.V513I|ENST00000263437,p.V532I|uc010yfp.2,p.V512I|uc010esp.3,p.V513I|ENST00000448584,p.V535I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021vbq.1 nonsynonymous SNV exon6 c.G1603A p.V535I EDRDGHTWDIGDVQKLLSGVERLRN EDRDGHTWDIGDIQKLLSGVERLRN 5.0 9.0 - - 4252_19:55494669-55494669 G>A_EDRDGHTWDIGDIQKLLSGVERLRN 0.0 1:196706673-196706673 G>C 0.0 4246 COLORECTAL - - - - CFH NM_000186,p.E889Q|ENST00000367429,p.E889Q|uc001gtj.4,p.E889Q retained_intron, protein_coding, ambiguous_orf uc001gtj.4 nonsynonymous SNV exon17 c.G2665C p.E889Q EHGTINSSRSSQESYAHGTKLSYTC EHGTINSSRSSQQSYAHGTKLSYTC 6.0 8.0 - - 4246_1:196706673-196706673 G>C_EHGTINSSRSSQQSYAHGTKLSYTC 0.0 5:151179537-151179537 C>T 1.0 3713 MELANOMA - - - - G3BP1 uc003lun.3,p.P311S|ENST00000356245,p.P311S|uc010jhz.3,p.P129S|ENST00000543466,p.P129S|ENST00000394123,p.P311S|uc003lum.3,p.P311S|NM_005754,p.P311S|uc011dcu.2,p.P129S|NM_198395,p.P311S retained_intron, protein_coding, nonsense_mediated_decay uc011dcu.2 nonsynonymous SNV exon9 c.C385T p.P129S RDQRVREQRINIPPQRGPRPIREAG RDQRVREQRINISPQRGPRPIREAG 9.0 7.0 - - 3713_5:151179537-151179537 C>T_RDQRVREQRINISPQRGPRPIREAG 0.0 10:99655131-99655131 G>A 1.0 4000 MELANOMA - - - - CRTAC1 ENST00000298819,p.R453W|uc001kot.2,p.R243W|ENST00000370591,p.R453W|ENST00000413387,p.R349W|uc001kou.2,p.R453W|ENST00000370597,p.R453W|ENST00000309155,p.R445W|NM_001206528,p.R453W|NM_018058,p.R453W|uc001kov.3,p.R453W protein_coding, processed_transcript uc001kov.3 nonsynonymous SNV exon11 c.C1357T p.R453W FNNNWLRVVPRTRFGAFARGAKVVL FNNNWLRVVPRTWFGAFARGAKVVL 8.0 1.0 - - 4000_10:99655131-99655131 G>A_FNNNWLRVVPRTWFGAFARGAKVVL 0.0 1:241798578-241798578 T>G 1.0 3879 MELANOMA - - - - CHML uc001hzd.3,p.E164A|NM_001821,p.E164A|ENST00000366553,p.E164A protein_coding uc001hzd.3 nonsynonymous SNV exon1 c.A491C p.E164A EMPAKHTQKSDTEISLEVTDVEESV EMPAKHTQKSDTAISLEVTDVEESV 10.0 8.0 - - 3879_1:241798578-241798578 T>G_EMPAKHTQKSDTAISLEVTDVEESV 0.0 13:23912602-23912602 A>C 0.0 4275 COLORECTAL - - - - SACS NM_001278055,p.S1658A|uc001uon.3,p.S1805A|ENST00000402364,p.S1055A|NM_014363,p.S1805A|uc001uoo.3,p.S1658A|ENST00000382298,p.S1805A|ENST00000382292,p.S1805A protein_coding, processed_transcript uc001uoo.3 nonsynonymous SNV exon8 c.T4972G p.S1658A FEMAKSGQSKKPSDELSQKTVECTT FEMAKSGQSKKPADELSQKTVECTT 5.0 6.0 - - 4275_13:23912602-23912602 A>C_FEMAKSGQSKKPADELSQKTVECTT 0.0 5:140812344-140812344 C>T 1.0 4213 COLORECTAL - - - - PCDHGA12 NM_003735,p.A673V|uc011dba.2,p.A673V|ENST00000252085,p.A673V|uc003lkt.2,p.A673V|NM_032094,p.A673V protein_coding uc011dba.2 nonsynonymous SNV exon1 c.C2018T p.A673V TVAVADSIPQVLADLGSLESPANSE TVAVADSIPQVLVDLGSLESPANSE 6.0 8.0 - - 4213_5:140812344-140812344 C>T_TVAVADSIPQVLVDLGSLESPANSE 0.0 11:128709978-128709978 A>C 0.0 4238 COLORECTAL - - - - KCNJ1 NM_153767,p.L54R|NM_000220,p.L73R|ENST00000440599,p.L54R|uc001qep.2,p.L54R|NM_153764,p.L54R|uc021qsb.1,p.L54R|uc001qeq.2,p.L71R|ENST00000392666,p.L54R|uc001qes.2,p.L54R|uc001qer.2,p.L54R|ENST00000392665,p.L54R|ENST00000392664,p.L73R|ENST00000324003,p.L54R|NM_153765,p.L71R|uc001qeo.2,p.L73R|ENST00000324036,p.L54R|NM_153766,p.L54R retained_intron, protein_coding uc021qsb.1 nonsynonymous SNV exon1 c.T161G p.L54R RFIFFVDIWTTVLDLKWRYKMTIFI RFIFFVDIWTTVRDLKWRYKMTIFI 1.0 2.0 - - 4238_11:128709978-128709978 A>C_RFIFFVDIWTTVRDLKWRYKMTIFI 0.0 15:52646177-52646177 G>A 1.0 4000 MELANOMA - - - 1 MYO5A ENST00000553916,p.S1153L|NM_000259,p.S1153L|ENST00000399233,p.S1153L|ENST00000356338,p.S1153L|uc002abx.3,p.S1153L|ENST00000358212,p.S1153L|NM_001142495,p.S1153L|uc002aby.2,p.S1153L|ENST00000399231,p.S1153L retained_intron, protein_coding, nonsense_mediated_decay uc002aby.2 nonsynonymous SNV exon26 c.C3458T p.S1153L EEPSEKKVPLDMSLFLKLQKRVTEL EEPSEKKVPLDMLLFLKLQKRVTEL 10.0 5.0 - - 4000_15:52646177-52646177 G>A_EEPSEKKVPLDMLLFLKLQKRVTEL 0.0 4:25415962-25415962 C>T 1.0 3879 MELANOMA - - - - ANAPC4 uc003gro.3,p.S547L|ENST00000510092,p.S548L|ENST00000315368,p.S547L|uc003grp.3,p.S433L|NM_013367,p.S547L|NM_001286756,p.S548L retained_intron, protein_coding, nonsense_mediated_decay uc003grp.3 nonsynonymous SNV exon20 c.C1298T p.S433L QCLQKPADVIGKSMNQAICIPLYRD QCLQKPADVIGKLMNQAICIPLYRD 9.0 6.0 - - 3879_4:25415962-25415962 C>T_QCLQKPADVIGKLMNQAICIPLYRD 0.0 2:234854632-234854632 C>T 0.0 2591 MELANOMA - - - - TRPM8 uc002vvh.3,p.R278W|ENST00000444298,p.R278W|NM_024080,p.R278W|ENST00000324695,p.R278W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002vvh.3 nonsynonymous SNV exon7 c.C832T p.R278W GCHGHPTVEAKLRNQLEKYISERTI GCHGHPTVEAKLWNQLEKYISERTI 5.0 7.0 - - 2591_2:234854632-234854632 C>T_GCHGHPTVEAKLWNQLEKYISERTI 0.0 19:58153539-58153539 A>G 1.0 4326 BREAST - - - - ZNF211 uc002qpr.2,p.E626G|NM_198855,p.E562G|uc010yhb.1,p.E566G|uc010yhe.2,p.E553G|NM_006385,p.E575G|ENST00000541801,p.E553G|NM_001265598,p.E614G|uc010yhd.2,p.E501G|uc031rng.1,p.E627G|ENST00000544273,p.E574G|ENST00000240731,p.E575G|ENST00000420680,p.E566G|ENST00000254182,p.E553G|NM_001265597,p.E627G|uc010yhc.1,p.E574G|NM_001265600,p.E501G|uc002qpq.2,p.E562G|ENST00000299871,p.E627G|ENST00000391703,p.E501G|uc002qpp.2,p.E575G|uc031rnh.1,p.E614G|uc002qpt.2,p.E574G|NM_001265599,p.E553G|ENST00000347302,p.E562G retained_intron, protein_coding, nonsense_mediated_decay uc031rnh.1 nonsynonymous SNV exon4 c.A1841G p.E614G SVLIQHQRVHIGEKP SVLIQHQRVHIGGKP 7.0 1.0 - - 4326_19:58153539-58153539 A>G_SVLIQHQRVHIGGKP 0.0 6:10804057-10804057 C>T 0.0 4259 COLORECTAL - - - - MAK ENST00000536370,p.G187R|NM_001242385,p.G187R|uc021ylk.1,p.G187R|NM_001242957,p.G187R|ENST00000354489,p.G187R|ENST00000313243,p.G187R|NM_005906,p.G187R|uc003mzm.3,p.G187R|ENST00000474039,p.G187R|uc021yll.1,p.G187R|ENST00000538030,p.G187R protein_coding, processed_transcript uc021yll.1 nonsynonymous SNV exon7 c.G559A p.G187R SVYSSPIDVWAVGSIMAELYMLRPL SVYSSPIDVWAVRSIMAELYMLRPL 2.0 6.0 - - 4259_6:10804057-10804057 C>T_SVYSSPIDVWAVRSIMAELYMLRPL 0.0 15:25932921-25932921 A>T 0.0 4246 COLORECTAL - - - - ATP10A uc010ayu.3,p.L1074M|ENST00000356865,p.L1074M|NM_024490,p.L1074M|ENST00000555756,p.L103M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ayu.3 nonsynonymous SNV exon16 c.T3220A p.L1074M FAVPKFRYLERLLILHGHWCYSRLA FAVPKFRYLERLMILHGHWCYSRLA 3.0 3.0 - - 4246_15:25932921-25932921 A>T_FAVPKFRYLERLMILHGHWCYSRLA 0.0 X:63488670-63488670 G>T 0.0 3775 CERVICAL - - - - MTMR8 uc004dvs.3,p.A621D|NM_017677,p.A621D|ENST00000374852,p.A621D protein_coding, processed_transcript uc004dvs.3 nonsynonymous SNV exon14 c.C1862A p.A621D HHNCCEIVGSLRAINISGDVGISEA HHNCCEIVGSLRDINISGDVGISEA 3.0 4.0 - - 3775_X:63488670-63488670 G>T_HHNCCEIVGSLRDINISGDVGISEA 0.0 1:62976259-62976259 C>G 0.0 3775 CERVICAL - - - - DOCK7 uc001dan.4,p.E1416D|NM_001272000,p.E1416D|uc010oov.1,p.E186D|uc001dam.3,p.E627D|ENST00000251157,p.E1447D|uc001daq.4,p.E1447D|uc001dap.4,p.E1425D|NM_001271999,p.E1447D|ENST00000340370,p.E1425D|uc001dao.4,p.E1416D|NM_001272001,p.E1416D|NM_033407,p.E1425D protein_coding, processed_transcript uc010oov.1 nonsynonymous SNV exon5 c.G558C p.E186D WRKDMTHWRQNTEKLDKSRAEIEHE WRKDMTHWRQNTDKLDKSRAEIEHE 6.0 9.0 - - 3775_1:62976259-62976259 C>G_WRKDMTHWRQNTDKLDKSRAEIEHE 0.0 3:52172297-52172297 C>T 1.0 2369 MELANOMA - - - - POC1A uc003dcu.3,p.G234E|ENST00000394970,p.G234E|NM_001161580,p.G234E|ENST00000474012,p.G196E|ENST00000296484,p.G234E|NM_015426,p.G234E|uc003dcw.3,p.G234E|uc003dcv.3,p.G196E|NM_001161581,p.G196E protein_coding uc003dcw.3 nonsynonymous SNV exon7 c.G701A p.G234E LQHYQLHSAAVNGLSFHPSGNYLIT LQHYQLHSAAVNELSFHPSGNYLIT 5.0 8.0 - - 2369_3:52172297-52172297 C>T_LQHYQLHSAAVNELSFHPSGNYLIT 0.0 7:128482396-128482396 G>A 1.0 3713 MELANOMA - - - - FLNC uc003voa.4,p.G745R|uc003vnz.4,p.G745R|ENST00000325888,p.G745R|ENST00000346177,p.G745R|NM_001458,p.G745R|NM_001127487,p.G745R retained_intron, protein_coding uc003voa.4 nonsynonymous SNV exon14 c.G2233A p.G745R TKPIKHTIIISWGGVNVPKSPFRVN TKPIKHTIIISWRGVNVPKSPFRVN 1.0 10.0 - - 3713_7:128482396-128482396 G>A_TKPIKHTIIISWRGVNVPKSPFRVN 0.0 6:28539984-28539984 A>C 1.0 4244 COLORECTAL - - - - ZBED9 NM_052923,p.L1228V|uc003nlo.3,p.L1228V|ENST00000452236,p.L1228V protein_coding, processed_transcript uc003nlo.3 nonsynonymous SNV exon4 c.T3682G p.L1228V NLNLTVTLQDKLLKLATDEGLKISF NLNLTVTLQDKLVKLATDEGLKISF 4.0 3.0 - - 4244_6:28539984-28539984 A>C_NLNLTVTLQDKLVKLATDEGLKISF 0.0 5:71638803-71638803 A>C 0.0 4335 COLORECTAL - - - - PTCD2 uc011csg.2,p.K84N|uc011csh.2,p.K147N|NM_001284403,p.K147N|ENST00000536805,p.K84N|uc003kcc.4,p.K85N|ENST00000308077,p.K256N|NM_001284404,p.K84N|ENST00000510676,p.K85N|ENST00000503868,p.K147N|uc011csf.1,p.K66N|NM_024754,p.K256N|uc003kcb.3,p.K256N|NM_001284405,p.K66N|ENST00000380639,p.K256N protein_coding, processed_transcript, nonsense_mediated_decay uc011csh.2 nonsynonymous SNV exon5 c.A441C p.K147N AVALALNQNEMAKAVSIFSQIMNPE AVALALNQNEMANAVSIFSQIMNPE 5.0 3.0 - - 4335_5:71638803-71638803 A>C_AVALALNQNEMANAVSIFSQIMNPE 0.0 17:34641474-34641474 A>T 0.0 4238 COLORECTAL - - - - CCL4L1,CCL4L2 ENST00000339270,p.K34M retained_intron, protein_coding ENST00000339270 nonsynonymous SNV exon2 c.A101T p.K34M LSAPNSKPKEASKSALTPVSPGSRS LSAPNSKPKEASMSALTPVSPGSRS 3.0 3.0 - - 4238_17:34641474-34641474 A>T_LSAPNSKPKEASMSALTPVSPGSRS 0.0 8:28704326-28704326 C>T 1.0 3466 MELANOMA - - - - INTS9 NM_018250,p.E67K|ENST00000520184,p.E43K|ENST00000523303,p.E67K|ENST00000518510,p.E67K|NM_001172562,p.E43K|ENST00000521777,p.E43K|ENST00000521022,p.E67K|ENST00000523436,p.E67K|uc011lav.2,p.E43K|uc003xha.3,p.E67K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011lav.2 nonsynonymous SNV exon4 c.G127A p.E43K WSLKDGNAFLDKELKECSGHVFVDS WSLKDGNAFLDKKLKECSGHVFVDS 5.0 9.0 - - 3466_8:28704326-28704326 C>T_WSLKDGNAFLDKKLKECSGHVFVDS 0.0 3:178921553-178921553 T>A 0.0 4081 COLORECTAL - - ID=COSM754,COSM132748;OCCURENCE=1(lung),5(central_nervous_system),1(stomach),44(breast),4(large_intestine),1(prostate),2(urinary_tract),5(endometrium),1(salivary_gland) 1 PIK3CA NM_006218,p.N345K|ENST00000263967,p.N345K|uc003fjk.3,p.N345K retained_intron, protein_coding uc003fjk.3 nonsynonymous SNV exon5 c.T1035A p.N345K ALRIKILCATYVNVNIRDIDKIYVR ALRIKILCATYVKVNIRDIDKIYVR 3.0 8.0 - - 4081_3:178921553-178921553 T>A_ALRIKILCATYVKVNIRDIDKIYVR 0.0 21:47349844-47349844 T>G 0.0 4246 COLORECTAL - - - - PCBP3 NM_020528,p.L244R|ENST00000449640,p.L244R|uc002zhp.2,p.L244R|ENST00000400310,p.L244R|ENST00000400305,p.L195R|uc002zhq.2,p.L244R|ENST00000400314,p.L244R|uc010gqb.3,p.L244R retained_intron, protein_coding, processed_transcript uc010gqb.3 nonsynonymous SNV exon12 c.T731G p.L244R QYAIPHPDQLTKLHQLAMQQTPFPP QYAIPHPDQLTKRHQLAMQQTPFPP 3.0 2.0 - - 4246_21:47349844-47349844 T>G_QYAIPHPDQLTKRHQLAMQQTPFPP 0.0 8:110255281-110255281 G>C 0.0 4284 COLORECTAL - - - - NUDCD1 NM_001128211,p.T541S|ENST00000427660,p.T541S|uc010mcl.3,p.T483S|uc003ynb.4,p.T570S|uc003yna.3,p.T541S|NM_032869,p.T570S|ENST00000239690,p.T570S protein_coding, nonsense_mediated_decay uc010mcl.3 nonsynonymous SNV exon11 c.C1448G p.T483S GFQATNERLFVLTTKNLFLIKVNTE GFQATNERLFVLSTKNLFLIKVNTE 7.0 1.0 - - 4284_8:110255281-110255281 G>C_GFQATNERLFVLSTKNLFLIKVNTE 0.0 10:124457257-124457257 G>A 0.0 3998 MELANOMA - - ID=COSM228140;OCCURENCE=1(skin) - C10orf120 ENST00000329446,p.H334Y|uc001lgn.3,p.H334Y|NM_001010912,p.H334Y protein_coding uc001lgn.3 nonsynonymous SNV exon3 c.C1000T p.H334Y IWKERMRKATPYHY IWKERMRKATPYYY 1.0 10.0 - - 3998_10:124457257-124457257 G>A_IWKERMRKATPYYY 0.0 1:185902913-185902913 T>G 0.0 4329 COLORECTAL - - - - HMCN1 ENST00000271588,p.S595R|uc001grq.1,p.S595R|NM_031935,p.S595R|ENST00000367492,p.S595R protein_coding, processed_transcript uc001grq.1 nonsynonymous SNV exon11 c.T1785G p.S595R FNDAGEYHCMVSSEGGSSAASVFLT FNDAGEYHCMVSREGGSSAASVFLT 7.0 7.0 - - 4329_1:185902913-185902913 T>G_FNDAGEYHCMVSREGGSSAASVFLT 0.0 X:73963985-73963985 C>A 0.0 4126 NSCLC - - - - KIAA2022 uc004eby.3,p.G136V|NM_001008537,p.G136V|ENST00000373468,p.G136V|ENST00000055682,p.G136V protein_coding uc004eby.3 nonsynonymous SNV exon3 c.G407T p.G136V AIMEPAGMSALNGDCLMQPSRTCLG AIMEPAGMSALNVDCLMQPSRTCLG 1.0 10.0 - - 4126_X:73963985-73963985 C>A_AIMEPAGMSALNVDCLMQPSRTCLG 0.0 6:46107972-46107972 G>A 1.0 4320 COLORECTAL - - - - ENPP4 ENST00000321037,p.V218I|NM_014936,p.V218I|uc003oxy.3,p.V218I protein_coding uc003oxy.3 nonsynonymous SNV exon2 c.G652A p.V218I VLKKIDDLIGDLVQRLKMLGLWENL VLKKIDDLIGDLIQRLKMLGLWENL 6.0 10.0 - - 4320_6:46107972-46107972 G>A_VLKKIDDLIGDLIQRLKMLGLWENL 0.0 5:74491836-74491836 C>T 0.0 3775 CERVICAL - - - - ANKRD31 ENST00000506364,p.E213K|NM_001164443,p.E213K|uc003kdo.2,p.E213K|ENST00000274361,p.E213K protein_coding, processed_transcript uc003kdo.2 nonsynonymous SNV exon7 c.G637A p.E213K VTMTMTSEETKDEESSLETFVSALE VTMTMTSEETKDKESSLETFVSALE 2.0 9.0 - - 3775_5:74491836-74491836 C>T_VTMTMTSEETKDKESSLETFVSALE 0.0 20:45170125-45170125 C>T 0.0 4346 COLORECTAL - - - - OCSTAMP NM_080721,p.E497K|uc010zxu.2,p.E497K|ENST00000279028,p.E497K protein_coding uc010zxu.2 nonsynonymous SNV exon3 c.G1489A p.E497K RLDALRTESSEGEGKELWSCRDLSC RLDALRTESSEGKGKELWSCRDLSC 1.0 6.0 - - 4346_20:45170125-45170125 C>T_RLDALRTESSEGKGKELWSCRDLSC 0.0 2:141116488-141116488 G>T 0.0 4278 COLORECTAL - - - 1 LRP1B uc002tvj.1,p.P3720H|ENST00000389484,p.P3720H|NM_018557,p.P3720H protein_coding, processed_transcript uc002tvj.1 nonsynonymous SNV exon73 c.C11159A p.P3720H DMCVKFLCPSTRPHRCRNNRICLQS DMCVKFLCPSTRHHRCRNNRICLQS 3.0 1.0 - - 4278_2:141116488-141116488 G>T_DMCVKFLCPSTRHHRCRNNRICLQS 0.0 8:66631592-66631624 CTGCTCGACTGTTCTCTCTGCAGTCCCTTCCAG>- 0.0 4252 COLORECTAL - - - - PDE7A uc003xvp.3,p.424_435del|NM_001242318,p.450_461del|uc003xvq.3,p.450_461del|NM_002603,p.424_435del retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003xvq.3 nonframeshift deletion exon13 c.1350_1382del p.450_461del QTMLGHVGLNKASWKGLQREQSSSE QTMLGHVGLNKASEDTDAAFELNSQ 8.0 6.0 - - 4252_8:66631592-66631624 CTGCTCGACTGTTCTCTCTGCAGTCCCTTCCAG>-_QTMLGHVGLNKASEDTDAAFELNSQ 0.0 2:33745672-33745672 C>T 0.0 4335 COLORECTAL - - ID=COSM1020541;OCCURENCE=1(endometrium) - RASGRP3 ENST00000407811,p.R97C|ENST00000437184,p.R97C|uc002roy.3,p.R97C|NM_001139488,p.R97C|NM_170672,p.R97C|ENST00000403687,p.R97C|ENST00000402538,p.R97C|ENST00000423159,p.R97C|NM_015376,p.R97C|uc002rox.3,p.R97C|uc010ync.2,p.R97C|ENST00000444784,p.R97C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ync.2 nonsynonymous SNV exon6 c.C289T p.R97C FPAEFNLDLGLIRMTEEFREVASQL FPAEFNLDLGLICMTEEFREVASQL 8.0 8.0 - - 4335_2:33745672-33745672 C>T_FPAEFNLDLGLICMTEEFREVASQL 0.0 1:48260410-48260410 G>T 0.0 4258 ENDOMETRIAL - - - - TRABD2B uc021ong.1,p.T279N|ENST00000371865,p.T279N|NM_001194986,p.T279N protein_coding, processed_transcript uc021ong.1 nonsynonymous SNV exon4 c.C836A p.T279N HDTSQLPNFINTTLPPHEQVTAQEI HDTSQLPNFINTNLPPHEQVTAQEI 3.0 5.0 - - 4258_1:48260410-48260410 G>T_HDTSQLPNFINTNLPPHEQVTAQEI 0.0 16:2815370-2815371 CA>- 1.0 4037 NSCLC - - - - SRRM2 uc002crl.1,p.A1614fs|uc002crj.1,p.A1518fs|uc010bsu.1,p.A1518fs|uc002crk.3,p.A1614fs|ENST00000301740,p.A1614fs|NM_016333,p.A1614fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010bsu.1 frameshift deletion exon10 c.4553_4554del p.A1518fs PEVKDKPRAAPRAQSGSDSSPEPKA PEVKDKPRAAPRAEWF 10.0 10.0 - - 4037_16:2815370-2815371 CA>-_PEVKDKPRAAPRAEWF 0.0 2:33412001-33412001 G>A 0.0 2591 MELANOMA - - ID=COSM1690448,COSM1690447;OCCURENCE=1(skin) - LTBP1 uc021vft.1,p.G427E|NM_000627,p.G101E|uc002rov.3,p.G101E|ENST00000407925,p.G101E|ENST00000404816,p.G427E|ENST00000390003,p.G101E|uc010yna.2,p.G101E|NM_001166266,p.G101E|NM_001166264,p.G101E|ENST00000354476,p.G427E|uc010ymz.2,p.G101E|ENST00000432635,p.G20E|ENST00000418533,p.G101E|ENST00000404525,p.G101E|ENST00000402934,p.G101E|uc002rou.3,p.G101E|NM_001166265,p.G101E|NM_206943,p.G427E protein_coding, processed_transcript uc021vft.1 nonsynonymous SNV exon6 c.G1280A p.G427E SRDKCQCPPNFTGKLCQIPVHGASV SRDKCQCPPNFTEKLCQIPVHGASV 3.0 3.0 - - 2591_2:33412001-33412001 G>A_SRDKCQCPPNFTEKLCQIPVHGASV 0.0 15:72186088-72186088 G>A 1.0 3466 MELANOMA - - - - MYO9A uc002atm.1,p.P416S|uc002atn.1,p.P1673S|ENST00000444904,p.P1673S|ENST00000356056,p.P1692S|uc002atl.5,p.P1692S|ENST00000424560,p.P1692S|NM_006901,p.P1692S|uc002atk.3,p.P416S|ENST00000564571,p.P1692S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002atn.1 nonsynonymous SNV exon24 c.C5017T p.P1673S PLVSKEALNSKNPQLHKEDEPAWKP PLVSKEALNSKNSQLHKEDEPAWKP 8.0 2.0 - - 3466_15:72186088-72186088 G>A_PLVSKEALNSKNSQLHKEDEPAWKP 0.0 9:18887873-18887873 C>T 1.0 3466 MELANOMA - - - - ADAMTSL1 ENST00000542621,p.H133Y|ENST00000380548,p.H1432Y|ENST00000380538,p.H34Y|ENST00000380545,p.H133Y|uc003znf.4,p.H133Y|NM_001040272,p.H1432Y|uc003zne.4,p.H1432Y|ENST00000388710,p.H133Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003znf.4 nonsynonymous SNV exon3 c.C397T p.H133Y IKGHPVPNITWFHGGQPIVTATGLT IKGHPVPNITWFYGGQPIVTATGLT 8.0 9.0 - - 3466_9:18887873-18887873 C>T_IKGHPVPNITWFYGGQPIVTATGLT 0.0 8:144999359-144999359 T>C 1.0 4335 COLORECTAL - - - - PLEC ENST00000354589,p.S1580G|NM_000445,p.S1607G|NM_201378,p.S1566G|uc003zah.2,p.S1566G|ENST00000527096,p.S1603G|uc003zae.1,p.S1548G|uc003zad.2,p.S1580G|NM_201383,p.S1584G|uc003zaj.2,p.S1607G|uc003zab.1,p.S1580G|uc003zaf.1,p.S1717G|ENST00000436759,p.S1607G|ENST00000356346,p.S1566G|uc003zag.1,p.S1558G|uc003zac.1,p.S1584G|NM_201382,p.S1580G|ENST00000357649,p.S1584G|ENST00000345136,p.S1580G|NM_201379,p.S1558G|ENST00000398774,p.S1548G|ENST00000322810,p.S1717G|NM_201384,p.S1580G|ENST00000354958,p.S1558G|NM_201380,p.S1717G|NM_201381,p.S1548G retained_intron, protein_coding uc003zaj.2 nonsynonymous SNV exon32 c.A4819G p.S1607G ETAQRSAEAELQSKRASFAEKTAQL ETAQRSAEAELQGKRASFAEKTAQL 10.0 2.0 - - 4335_8:144999359-144999359 T>C_ETAQRSAEAELQGKRASFAEKTAQL 0.0 2:97877433-97877433 C>T 1.0 4244 COLORECTAL - - - - ANKRD36 uc010yva.2,p.P1142S|NM_001164315,p.P1142S|ENST00000420699,p.P1142S|ENST00000461153,p.P1142S retained_intron, protein_coding uc010yva.2 nonsynonymous SNV exon58 c.C3424T p.P1142S ALKAICDKEDSVPNMATEKKDEQIS ALKAICDKEDSVSNMATEKKDEQIS 8.0 8.0 - - 4244_2:97877433-97877433 C>T_ALKAICDKEDSVSNMATEKKDEQIS 0.0 4:113571737-113571737 G>C 1.0 4160 COLORECTAL - - - - LARP7 uc003ibb.4,p.R472P|uc003iay.4,p.R472P|ENST00000513553,p.R140P|uc003iba.4,p.R393P|ENST00000324052,p.R472P|NM_015454,p.R472P|uc003iaz.4,p.R479P|NM_001267039,p.R479P|ENST00000509061,p.R479P|NM_016648,p.R472P|ENST00000344442,p.R472P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003ibb.4 nonsynonymous SNV exon10 c.G1415C p.R472P ISTEPLPGRKQVRDTLAAISEVLYV ISTEPLPGRKQVPDTLAAISEVLYV 10.0 9.0 - - 4160_4:113571737-113571737 G>C_ISTEPLPGRKQVPDTLAAISEVLYV 0.0 4:2254223-2254223 T>A 0.0 4320 COLORECTAL - - - - MXD4 ENST00000337190,p.E74V|uc003geu.1,p.E74V|NM_006454,p.E74V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003geu.1 nonsynonymous SNV exon4 c.A221T p.E74V EKHRRAKLRLYLEQLKQLVPLGPDS EKHRRAKLRLYLVQLKQLVPLGPDS 6.0 6.0 - - 4320_4:2254223-2254223 T>A_EKHRRAKLRLYLVQLKQLVPLGPDS 0.0 4:186320777-186320777 T>A 1.0 4071 COLORECTAL - - - - ANKRD37 NM_181726,p.F109Y|uc003ixm.3,p.F109Y|ENST00000335174,p.F109Y|uc011cks.2,p.F109Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cks.2 nonsynonymous SNV exon4 c.T326A p.F109Y GQTAEDLAWSCGFPDCAKFLTTIKC GQTAEDLAWSCGYPDCAKFLTTIKC 5.0 10.0 - - 4071_4:186320777-186320777 T>A_GQTAEDLAWSCGYPDCAKFLTTIKC 0.0 4:162376199-162376199 C>T 1.0 3879 MELANOMA - - ID=COSM1695178;OCCURENCE=1(skin) - FSTL5 ENST00000306100,p.D600N|uc010iqv.4,p.D590N|NM_001128427,p.D599N|NM_001128428,p.D590N|uc003iqi.4,p.D599N|NM_020116,p.D600N|ENST00000379164,p.D599N|ENST00000427802,p.D590N|uc003iqh.4,p.D600N|ENST00000536695,p.D599N protein_coding, processed_transcript uc010iqv.4 nonsynonymous SNV exon14 c.G1768A p.D590N TQPVGKQFDRVDDFFIPTTTLIITH TQPVGKQFDRVDNFFIPTTTLIITH 7.0 8.0 - - 3879_4:162376199-162376199 C>T_TQPVGKQFDRVDNFFIPTTTLIITH 0.0 19:37368592-37368592 T>A 0.0 4235 COLORECTAL - - - - ZNF345 uc002oex.3,p.V287E|uc021utq.1,p.V287E|ENST00000589046,p.V287E|NM_001242476,p.V287E|NM_001242474,p.V287E|ENST00000529555,p.V287E|uc021uto.1,p.V287E|uc021utp.1,p.V287E|ENST00000420450,p.V287E|NM_001242472,p.V287E|NM_001242475,p.V287E|NM_003419,p.V287E|uc021utn.1,p.V287E|uc002oey.4,p.V287E protein_coding, processed_transcript uc021utq.1 nonsynonymous SNV exon1 c.T860A p.V287E RHQRIHTGEKPYVCKECGKAFNSGS RHQRIHTGEKPYECKECGKAFNSGS 5.0 2.0 - - 4235_19:37368592-37368592 T>A_RHQRIHTGEKPYECKECGKAFNSGS 0.0 13:95899299-95899299 G>A 1.0 3713 MELANOMA - - - - ABCC4 uc010afl.1,p.S36F|ENST00000412704,p.S79F|NM_001301830,p.S79F|uc001vmf.2,p.S36F|uc010afk.3,p.S79F|NM_001105515,p.S79F|ENST00000536256,p.S79F|ENST00000431522,p.S79F|NM_001301829,p.S79F|ENST00000376887,p.S79F|NM_005845,p.S79F|uc001vmd.4,p.S79F|uc010tih.1,p.S79F|uc001vme.2,p.S79F|uc010afm.1,p.S92F protein_coding, processed_transcript uc010tih.1 nonsynonymous SNV exon3 c.C236T p.S79F EVLRAENDAQKPSLTRAIIKCYWKS EVLRAENDAQKPFLTRAIIKCYWKS 1.0 3.0 - - 3713_13:95899299-95899299 G>A_EVLRAENDAQKPFLTRAIIKCYWKS 0.0 19:52819135-52819135 G>T 1.0 4316 COLORECTAL - - - - ZNF480 uc010ydl.2,p.R83M|ENST00000468240,p.R83M|NM_144684,p.R83M|ENST00000598016,p.R83M|ENST00000595962,p.R83M protein_coding, nonsense_mediated_decay uc010ydl.2 nonsynonymous SNV exon4 c.G248T p.R83M PDLNINSMLEQRREPWSGESEVKIA PDLNINSMLEQRMEPWSGESEVKIA 10.0 5.0 - - 4316_19:52819135-52819135 G>T_PDLNINSMLEQRMEPWSGESEVKIA 0.0 3:50211766-50211766 C>T 1.0 4180 BREAST - - - - SEMA3F ENST00000414301,p.R147C|ENST00000450338,p.R147C|uc003cyk.3,p.R147C|ENST00000420831,p.R111C|ENST00000434342,p.R147C|ENST00000413852,p.R79C retained_intron, protein_coding uc003cyk.3 nonsynonymous SNV exon5 c.C439T p.R147C TGAYNPMCTYVNRGRRAQDYIFYLE TGAYNPMCTYVNCGRRAQDYIFYLE 9.0 8.0 - - 4180_3:50211766-50211766 C>T_TGAYNPMCTYVNCGRRAQDYIFYLE 0.0 6:111695910-111695910 C>G 1.0 4244 COLORECTAL - - - - REV3L NM_001286432,p.E1138D|ENST00000435970,p.E1138D|NM_001286431,p.E1138D|ENST00000368802,p.E1216D|uc003puy.4,p.E1216D|ENST00000368805,p.E1216D|ENST00000358835,p.E1216D|uc003pux.4,p.E1138D|uc003puz.4,p.E1138D|NM_002912,p.E1216D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003puz.4 nonsynonymous SNV exon15 c.G3414C p.E1138D GKKKPRAKQKTNEKGTSRKHTTLKD GKKKPRAKQKTNDKGTSRKHTTLKD 7.0 3.0 - - 4244_6:111695910-111695910 C>G_GKKKPRAKQKTNDKGTSRKHTTLKD 0.0 19:22575266-22575266 C>A 0.0 4213 COLORECTAL - - - - ZNF98 ENST00000357774,p.K257N|NM_001098626,p.K257N|uc002nqt.2,p.K257N protein_coding, processed_transcript uc002nqt.2 nonsynonymous SNV exon4 c.G771T p.K257N KAFNRLSHLTTHKIIHTGKKPYKCE KAFNRLSHLTTHNIIHTGKKPYKCE 3.0 8.0 - - 4213_19:22575266-22575266 C>A_KAFNRLSHLTTHNIIHTGKKPYKCE 0.0 1:150445476-150445476 G>T 1.0 4129 NSCLC - - - - RPRD2 uc009wlr.3,p.G1351V|NM_001297674,p.G1325V|uc001eup.4,p.G1325V|NM_015203,p.G1351V|ENST00000369068,p.G1351V|ENST00000401000,p.G1325V protein_coding, processed_transcript uc009wlr.3 nonsynonymous SNV exon11 c.G4052T p.G1351V HFGVLPGPRDHGGPTQRDLNGPGLS HFGVLPGPRDHGVPTQRDLNGPGLS 6.0 9.0 - - 4129_1:150445476-150445476 G>T_HFGVLPGPRDHGVPTQRDLNGPGLS 0.0 12:124957637-124957637 G>A 1.0 3678 MELANOMA - - - 1 NCOR2 ENST00000448008,p.P72L|ENST00000405201,p.P151L|NM_006312,p.P151L|uc001ugj.1,p.P151L|ENST00000420698,p.P151L|ENST00000429285,p.P151L|uc001ugk.1,p.P151L|NM_001206654,p.P151L|ENST00000397355,p.P151L|uc010tba.2,p.P151L|uc010tbb.2,p.P151L|uc021rgc.1,p.P151L|ENST00000404621,p.P151L|NM_001077261,p.P151L|ENST00000458234,p.P151L|ENST00000356219,p.P151L|uc010tbc.2,p.P151L retained_intron, protein_coding uc021rgc.1 nonsynonymous SNV exon6 c.C452T p.P151L RSLTGKLEPVSPPSPPHTDPELELV RSLTGKLEPVSPLSPPHTDPELELV 10.0 7.0 - - 3678_12:124957637-124957637 G>A_RSLTGKLEPVSPLSPPHTDPELELV 0.0 5:140474589-140474589 G>A 1.0 4000 MELANOMA - - - - PCDHB2 NM_018936,p.G72E|uc003lil.3,p.G72E|ENST00000194155,p.G72E protein_coding uc003lil.3 nonsynonymous SNV exon1 c.G215A p.G72E ELAVRGARVVSKGKKMHLQFDRQTG ELAVRGARVVSKEKKMHLQFDRQTG 4.0 10.0 - - 4000_5:140474589-140474589 G>A_ELAVRGARVVSKEKKMHLQFDRQTG 0.0 9:109734420-109734420 G>A 0.0 3775 CERVICAL - - - - ZNF462 uc011lvz.2,p.E145K|ENST00000457913,p.E2248K|ENST00000277225,p.E2188K|uc004bcz.3,p.E2188K|uc010mto.3,p.E2097K|uc004bda.3,p.E2096K|uc004bdb.1,p.E96K|ENST00000542028,p.E145K|NM_021224,p.E2188K|ENST00000374686,p.E1131K|ENST00000441147,p.E1094K protein_coding, processed_transcript uc011lvz.2 nonsynonymous SNV exon4 c.G433A p.E145K LSGAAAGTEQKTEAVLHCEFCEFSS LSGAAAGTEQKTKAVLHCEFCEFSS 5.0 8.0 - - 3775_9:109734420-109734420 G>A_LSGAAAGTEQKTKAVLHCEFCEFSS 0.0 4:48545867-48545867 G>A 1.0 3713 MELANOMA - - - - FRYL ENST00000537810,p.S1850F|NM_015030,p.S1850F|ENST00000503238,p.S1850F|uc003gyg.1,p.S546F|uc003gyj.1,p.S145F|ENST00000358350,p.S1850F|uc003gyi.1,p.S738F|uc003gyh.1,p.S1850F retained_intron, protein_coding, processed_transcript uc003gyj.1 nonsynonymous SNV exon3 c.C434T p.S145F QPLTATTLSDVLSRLVETVGDPGED QPLTATTLSDVLFRLVETVGDPGED 7.0 3.0 - - 3713_4:48545867-48545867 G>A_QPLTATTLSDVLFRLVETVGDPGED 0.0 4:30725908-30725908 A>T 0.0 4259 COLORECTAL - - - - PCDH7 NM_032456,p.E955V|NM_001173523,p.E955V|NM_002589,p.E955V|ENST00000543491,p.E955V|uc011bxx.2,p.E955V|ENST00000361762,p.E955V|uc003gsk.1,p.E955V|uc021xnc.1,p.E955V|uc021xnd.1,p.E955V|NM_032457,p.E955V protein_coding, processed_transcript uc021xnd.1 nonsynonymous SNV exon1 c.A2864T p.E955V SKQPLYSSIVTVEASKPNGQRYDSV SKQPLYSSIVTVVASKPNGQRYDSV 5.0 8.0 - - 4259_4:30725908-30725908 A>T_SKQPLYSSIVTVVASKPNGQRYDSV 0.0 1:153737460-153737460 C>G 1.0 4240 BREAST - - - - INTS3 ENST00000456435,p.L465V|ENST00000435409,p.L671V|uc001fcv.3,p.L465V|uc001fct.3,p.L671V|uc010pec.2,p.L184V|uc010peb.2,p.L465V|ENST00000318967,p.L671V|uc009wom.3,p.L671V|uc001fcu.3,p.L363V|NM_023015,p.L671V|ENST00000512605,p.L465V|uc001fcw.3,p.L184V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010pec.2 nonsynonymous SNV exon8 c.C550G p.L184V LCQMQEDNSSFSLLLDLLSELYQKQ LCQMQEDNSSFSVLLDLLSELYQKQ 9.0 8.0 - - 4240_1:153737460-153737460 C>G_LCQMQEDNSSFSVLLDLLSELYQKQ 0.0 13:97995285-97995285 G>A 1.0 3784 MELANOMA - - - - MBNL2 uc001vna.4,p.G119S|ENST00000343600,p.G119S|NM_207304,p.G119S|ENST00000397601,p.G119S|uc031qmz.1,p.G119S|ENST00000376673,p.G119S|ENST00000345429,p.G119S|uc001vmz.4,p.G119S|uc010aft.4,p.G119S|NM_144778,p.G119S|ENST00000469707,p.G119S protein_coding, nonsense_mediated_decay uc031qmz.1 nonsynonymous SNV exon5 c.G355A p.G119S GTPLHPVPTFPVGPAIGTNTAISFA GTPLHPVPTFPVSPAIGTNTAISFA 9.0 10.0 - - 3784_13:97995285-97995285 G>A_GTPLHPVPTFPVSPAIGTNTAISFA 0.0 6:57015651-57015651 G>A 1.0 3678 MELANOMA - - - - ZNF451 uc003pdl.4,p.G915S|ENST00000370706,p.G915S|uc003pdm.2,p.G915S|ENST00000491832,p.G915S|NM_001031623,p.G915S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003pdm.2 nonsynonymous SNV exon11 c.G2743A p.G915S LPGHLNQGTFIWGFQGGNTNWKPPL LPGHLNQGTFIWSFQGGNTNWKPPL 9.0 5.0 - - 3678_6:57015651-57015651 G>A_LPGHLNQGTFIWSFQGGNTNWKPPL 0.0 1:201868580-201868580 G>T 0.0 4095 COLORECTAL - - - - LMOD1 uc021phm.1,p.P521T|uc021phl.1,p.P521T|ENST00000367288,p.P521T|NM_012134,p.P521T|uc010ppu.2,p.P470T protein_coding uc021phm.1 nonsynonymous SNV exon2 c.C1561A p.P521T PKPSPQPSPKPSPKNSPKKGGAPAA PKPSPQPSPKPSTKNSPKKGGAPAA 7.0 6.0 - - 4095_1:201868580-201868580 G>T_PKPSPQPSPKPSTKNSPKKGGAPAA 0.0 1:46489651-46489651 A>C 1.0 4252 COLORECTAL - - - - MAST2 uc009vya.3,p.E515D protein_coding, processed_transcript uc009vya.3 nonsynonymous SNV exon14 c.A1545C p.E515D TKRHLCMVMEYVEGTEAKVAWHGGQ TKRHLCMVMEYVDGTEAKVAWHGGQ 8.0 8.0 - - 4252_1:46489651-46489651 A>C_TKRHLCMVMEYVDGTEAKVAWHGGQ 0.0 8:16884892-16884892 C>T 0.0 4266 COLORECTAL - - - - MICU3 ENST00000318063,p.T35I|NM_181723,p.T35I|uc003wxd.2,p.T35I retained_intron, protein_coding, processed_transcript uc003wxd.2 nonsynonymous SNV exon1 c.C104T p.T35I PLLGPWGRPAVTTLGLPGRPFSSRE PLLGPWGRPAVTILGLPGRPFSSRE 4.0 10.0 - - 4266_8:16884892-16884892 C>T_PLLGPWGRPAVTILGLPGRPFSSRE 0.0 12:121687640-121687640 G>A 1.0 3466 MELANOMA - - - - CAMKK2 ENST00000347034,p.R425C|uc001tzv.3,p.R425C|NM_001270486,p.R425C|ENST00000538733,p.R425C|uc001uab.3,p.R425C|ENST00000446440,p.R425C|uc001tzz.2,p.R212C|uc001uac.3,p.R425C|uc001tzy.3,p.R425C|uc001tzt.3,p.R425C|ENST00000412367,p.R425C|NM_153499,p.R425C|uc001uaa.2,p.R425C|NM_172214,p.R425C|ENST00000392473,p.R425C|NM_006549,p.R425C|uc001tzu.3,p.R425C|ENST00000545538,p.R212C|ENST00000404169,p.R425C|ENST00000392474,p.R425C|NM_172216,p.R425C|NM_153500,p.R425C|ENST00000324774,p.R425C|uc001tzw.3,p.R425C|NM_172215,p.R425C|uc001tzx.3,p.R425C|ENST00000337174,p.R425C|ENST00000402834,p.R425C|NM_172226,p.R425C|NM_001270485,p.R425C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001uac.3 nonsynonymous SNV exon13 c.C1273T p.R425C PDIAEDLKDLITRMLDKNPESRIVV PDIAEDLKDLITCMLDKNPESRIVV 6.0 9.0 - - 3466_12:121687640-121687640 G>A_PDIAEDLKDLITCMLDKNPESRIVV 0.0 1:92946551-92946551 G>T 0.0 4335 COLORECTAL - - - - GFI1 ENST00000427103,p.D131E|ENST00000370332,p.D131E|NM_005263,p.D131E|NM_001127215,p.D131E|ENST00000294702,p.D131E|uc001dov.4,p.D131E|uc001dow.4,p.D131E|uc001dou.4,p.D131E|NM_001127216,p.D131E protein_coding, processed_transcript uc001dow.4 nonsynonymous SNV exon4 c.C393A p.D131E FKPYSWSGLAGSDLRHLVQSYRPCG FKPYSWSGLAGSELRHLVQSYRPCG 5.0 3.0 - - 4335_1:92946551-92946551 G>T_FKPYSWSGLAGSELRHLVQSYRPCG 0.0 16:3367700-3367700 G>T 1.0 4071 COLORECTAL - - - - ZNF75A NM_153028,p.G241V|ENST00000574298,p.G241V|uc002cut.4,p.G241V|NM_001302109,p.G482V retained_intron, protein_coding, processed_transcript uc002cut.4 nonsynonymous SNV exon6 c.G722T p.G241V NTNLHTHQRTHTGEKPFTCHECGKK NTNLHTHQRTHTVEKPFTCHECGKK 7.0 2.0 - - 4071_16:3367700-3367700 G>T_NTNLHTHQRTHTVEKPFTCHECGKK 0.0 1:20991157-20991157 G>A 0.0 4238 COLORECTAL - - - - KIF17 NM_020816,p.R1004C|uc001bdp.4,p.R281C|NM_001122819,p.R1003C|ENST00000247986,p.R1004C|uc001bds.4,p.R1003C|uc009vpx.3,p.R374C|ENST00000400463,p.R1003C|NM_001287212,p.R904C|uc001bdr.4,p.R1004C|ENST00000375044,p.R904C protein_coding, processed_transcript uc009vpx.3 nonsynonymous SNV exon9 c.C1120T p.R374C TQAPEMPQPRPFRLESLDIPFTKAK TQAPEMPQPRPFCLESLDIPFTKAK 4.0 10.0 - - 4238_1:20991157-20991157 G>A_TQAPEMPQPRPFCLESLDIPFTKAK 0.0 3:155200651-155200651 C>A 1.0 4252 COLORECTAL - - - - PLCH1 ENST00000460012,p.G1025V|ENST00000414191,p.G1025V|uc021xgf.1,p.G1025V|NM_001130960,p.G1063V|uc021xge.1,p.G1063V|NM_014996,p.G1025V|ENST00000340059,p.G1063V|ENST00000334686,p.G1025V retained_intron, protein_coding uc021xgf.1 nonsynonymous SNV exon22 c.G3074T p.G1025V VTGEQLGMSSPRGGRTTSNATSNCQ VTGEQLGMSSPRVGRTTSNATSNCQ 6.0 7.0 - - 4252_3:155200651-155200651 C>A_VTGEQLGMSSPRVGRTTSNATSNCQ 0.0 1:150530443-150530443 T>A 0.0 4246 COLORECTAL - - - - ADAMTSL4 uc010pcg.2,p.S695T|uc001eux.3,p.S734T|uc001euw.3,p.S734T|uc009wlw.3,p.S757T|NM_001288607,p.S695T|ENST00000369038,p.S734T|ENST00000271643,p.S734T|NM_019032,p.S734T|NM_025008,p.S734T|ENST00000369041,p.S734T|NM_001288608,p.S757T|ENST00000369039,p.S757T retained_intron, protein_coding, processed_transcript uc010pcg.2 nonsynonymous SNV exon14 c.T2083A p.S695T PCPPYWEAGEWTSCSRSCGPGTQHR PCPPYWEAGEWTTCSRSCGPGTQHR 5.0 9.0 - - 4246_1:150530443-150530443 T>A_PCPPYWEAGEWTTCSRSCGPGTQHR 0.0 14:105409491-105409491 C>A 1.0 4126 NSCLC - - - - AHNAK2 ENST00000333244,p.M4099I|uc001ypx.2,p.M3999I|NM_138420,p.M4099I|uc010axc.1,p.M4099I retained_intron, protein_coding uc010axc.1 nonsynonymous SNV exon7 c.G12297T p.M4099I VTAPDVKMSLSSMEVDVQAPRAKLD VTAPDVKMSLSSIEVDVQAPRAKLD 9.0 3.0 - - 4126_14:105409491-105409491 C>A_VTAPDVKMSLSSIEVDVQAPRAKLD 0.0 8:19276184-19276184 G>A 1.0 3903 MELANOMA - - - - CSGALNACT1 NM_001130518,p.P404S|uc011kyn.2,p.P404S|ENST00000454498,p.P404S|ENST00000332246,p.P404S|ENST00000311540,p.P404S|ENST00000522854,p.P404S|uc011kyo.2,p.P404S|NM_018371,p.P404S|uc011kyp.2,p.P404S|ENST00000544602,p.P404S protein_coding, processed_transcript, nonsense_mediated_decay uc011kyp.2 nonsynonymous SNV exon7 c.C1210T p.P404S PGIIYGHHDAVPPLEQQLVIKKETG PGIIYGHHDAVPSLEQQLVIKKETG 9.0 8.0 - - 3903_8:19276184-19276184 G>A_PGIIYGHHDAVPSLEQQLVIKKETG 0.0 7:154585802-154585802 A>- 0.0 4284 COLORECTAL - - - - DPP6 ENST00000377770,p.T384fs|uc011kvq.2,p.T277fs|uc003wlk.3,p.T384fs|NM_001936,p.T322fs|NM_001039350,p.T320fs|uc003wli.3,p.T320fs|ENST00000404039,p.T320fs|ENST00000332007,p.T322fs|uc003wlm.3,p.T322fs|ENST00000427557,p.T277fs|NM_130797,p.T384fs|NM_001290252,p.T277fs retained_intron, protein_coding, processed_transcript uc011kvq.2 frameshift deletion exon9 c.829delA p.T277fs PPDDPRMREYYITMVKWATSTKVAV PPDDPRMREYYIPW 4.0 3.0 - - 4284_7:154585802-154585802 A>-_PPDDPRMREYYIPW 0.0 1:145457587-145457587 G>A 1.0 4234 NSCLC - - - - POLR3GL ENST00000369313,p.R92W retained_intron, protein_coding ENST00000369313 nonsynonymous SNV exon4 c.C274T p.R92W PAVPKRDWRRLPRELKIRVRKLQKE PAVPKRDWRRLPWELKIRVRKLQKE 9.0 1.0 - - 4234_1:145457587-145457587 G>A_PAVPKRDWRRLPWELKIRVRKLQKE 0.0 2:220355633-220355633 G>T 0.0 4234 NSCLC - - - - SPEG ENST00000312358,p.A3114S|NM_005876,p.A3114S|uc010fwg.3,p.A3114S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010fwg.3 nonsynonymous SNV exon38 c.G9340T p.A3114S VDFGSAQPYNPQALRPLGHRTGTLE VDFGSAQPYNPQSLRPLGHRTGTLE 8.0 3.0 - - 4234_2:220355633-220355633 G>T_VDFGSAQPYNPQSLRPLGHRTGTLE 0.0 3:43389259-43389259 A>T 0.0 4345 COLORECTAL - - - - SNRK ENST00000454177,p.E503V|ENST00000296088,p.E503V|uc011azr.2,p.E297V|NM_001100594,p.E503V|ENST00000437827,p.E297V|NM_017719,p.E503V|uc010hik.3,p.E503V|uc003cms.4,p.E503V|uc003cmt.4,p.E503V|ENST00000429705,p.E503V retained_intron, protein_coding, processed_transcript uc011azr.2 nonsynonymous SNV exon5 c.A890T p.E297V EEGESDDEFDMDENLPPKLSRLKMN EEGESDDEFDMDVNLPPKLSRLKMN 6.0 5.0 - - 4345_3:43389259-43389259 A>T_EEGESDDEFDMDVNLPPKLSRLKMN 0.0 9:140685417-140685417 C>T 1.0 3713 MELANOMA - - - - EHMT1 ENST00000462942,p.P453S|ENST00000460843,p.P834S|uc011mfc.2,p.P834S|NM_024757,p.P834S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011mfc.2 nonsynonymous SNV exon16 c.C2500T p.P834S VKYLIKAGALVDPKDAEGSTCLHLA VKYLIKAGALVDSKDAEGSTCLHLA 8.0 5.0 - - 3713_9:140685417-140685417 C>T_VKYLIKAGALVDSKDAEGSTCLHLA 0.0 X:21627575-21627575 T>G 0.0 4298 COLORECTAL - - - - CNKSR2 uc004czw.3,p.S844R|uc004czy.3,p.S436R|ENST00000425654,p.S814R|ENST00000379510,p.S844R|NM_001168648,p.S844R|NM_001168647,p.S814R|uc004czx.2,p.S844R|NM_001168649,p.S795R|ENST00000543067,p.S795R|ENST00000279451,p.S844R|uc011mjn.2,p.S795R|uc011mjo.2,p.S814R|NM_014927,p.S844R protein_coding, processed_transcript uc011mjo.2 nonsynonymous SNV exon19 c.T2442G p.S814R MQVLNGNGGKPRSFTLPRDSGFNHC MQVLNGNGGKPRRFTLPRDSGFNHC 5.0 8.0 - - 4298_X:21627575-21627575 T>G_MQVLNGNGGKPRRFTLPRDSGFNHC 0.0 7:157159199-157159199 A>C 1.0 4335 COLORECTAL - - - - DNAJB6 ENST00000412557,p.K60T|ENST00000262177,p.K60T|uc010lqt.3,p.K60T|NM_058246,p.K60T|ENST00000417758,p.K60T|ENST00000453383,p.K60T|ENST00000443280,p.K60T|uc011kvz.2,p.K60T|uc003wnj.3,p.K60T|ENST00000441291,p.K60T|uc003wnl.3,p.K47T|NM_005494,p.K60T|ENST00000429029,p.K60T|uc003wnk.3,p.K60T|ENST00000441561,p.K60T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011kvz.2 nonsynonymous SNV exon4 c.A179C p.K60T QVAEAYEVLSDAKKRDIYDKYGKEG QVAEAYEVLSDATKRDIYDKYGKEG 10.0 2.0 - - 4335_7:157159199-157159199 A>C_QVAEAYEVLSDATKRDIYDKYGKEG 0.0 4:6087308-6087308 C>T 0.0 4301 MELANOMA - - - - JAKMIP1 uc003giu.4,p.E225K|NM_144720,p.E225K|ENST00000409831,p.E225K|uc010ide.3,p.E225K|uc010idd.1,p.E225K|uc003giv.4,p.E225K|ENST00000282924,p.E225K|uc010idb.1,p.E225K|uc010idc.1,p.E60K|NM_001099433,p.E225K|ENST00000409021,p.E225K|uc011bwc.2,p.E60K|ENST00000473053,p.E225K|ENST00000410077,p.E60K|ENST00000409371,p.E60K protein_coding, processed_transcript, nonsense_mediated_decay uc011bwc.2 nonsynonymous SNV exon3 c.G178A p.E60K KGKDRVILALEKELGVQAGQTQKLL KGKDRVILALEKKLGVQAGQTQKLL 6.0 4.0 - - 4301_4:6087308-6087308 C>T_KGKDRVILALEKKLGVQAGQTQKLL 0.0 11:124007301-124007301 A>C 0.0 4345 COLORECTAL - - - - VWA5A ENST00000456829,p.E515D|NM_001130142,p.E515D|uc001pzt.3,p.E515D|ENST00000392748,p.E515D|uc001pzu.3,p.E515D|NM_014622,p.E515D retained_intron, protein_coding uc001pzu.3 nonsynonymous SNV exon14 c.A1545C p.E515D LTGRMPAAETTGEVCLKYTLQGKTF LTGRMPAAETTGDVCLKYTLQGKTF 8.0 6.0 - - 4345_11:124007301-124007301 A>C_LTGRMPAAETTGDVCLKYTLQGKTF 0.0 10:81050726-81050726 A>C 1.0 4335 COLORECTAL - - - - ZMIZ1 uc001kaf.2,p.N184T|uc001kah.1,p.N60T|ENST00000334512,p.N184T|NM_020338,p.N184T|uc001kag.2,p.N60T protein_coding, processed_transcript uc001kah.1 nonsynonymous SNV exon3 c.A179C p.N60T GVTNTSQSQVLGNPMANANNPMNPG GVTNTSQSQVLGTPMANANNPMNPG 8.0 6.0 - - 4335_10:81050726-81050726 A>C_GVTNTSQSQVLGTPMANANNPMNPG 0.0 2:232081438-232081438 C>T 0.0 4246 COLORECTAL - - ID=COSM1195013,COSM1195012;OCCURENCE=2(lung) - ARMC9 ENST00000440107,p.L146F|uc002vrq.5,p.L146F|NM_025139,p.L146F|ENST00000349938,p.L146F|uc002vrp.5,p.L146F|NM_001291656,p.L146F|uc031rrs.1,p.L146F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031rrs.1 nonsynonymous SNV exon5 c.C436T p.L146F TKGAALSQTTEFLPFYALPFVPNPM TKGAALSQTTEFFPFYALPFVPNPM 6.0 10.0 CD8 - 4246_2:232081438-232081438 C>T_TKGAALSQTTEFFPFYALPFVPNPM 1.0 16:7760718-7760718 G>A 0.0 4110 BILE DUCT - - - - RBFOX1 NM_145891,p.G410R|uc010uyc.1,p.G383R|uc002cys.2,p.G389R|ENST00000550418,p.G389R|ENST00000553186,p.G362R|ENST00000547338,p.G389R|NM_018723,p.G389R|uc002cyt.2,p.G362R|NM_001142334,p.G389R|ENST00000311745,p.G410R|uc002cyy.2,p.G410R|ENST00000340209,p.G394R|NM_001142333,p.G362R|uc010uyb.1,p.G389R retained_intron, protein_coding, processed_transcript uc010uyc.1 nonsynonymous SNV exon12 c.G1147A p.G383R LVLSSLQASIYRGGYNRFAPY LVLSSLQASIYRRGYNRFAPY 1.0 8.0 - - 4110_16:7760718-7760718 G>A_LVLSSLQASIYRRGYNRFAPY 0.0 9:35401992-35401992 C>T 0.0 2369 MELANOMA - - - - UNC13B ENST00000378496,p.R1428C|uc003zwr.3,p.R1428C|ENST00000396787,p.R1440C protein_coding, processed_transcript uc003zwr.3 nonsynonymous SNV exon37 c.C4282T p.R1428C GKGIRFTANEDIRPEKGSGVDDPVG GKGIRFTANEDICPEKGSGVDDPVG 7.0 8.0 - - 2369_9:35401992-35401992 C>T_GKGIRFTANEDICPEKGSGVDDPVG 0.0 9:108382246-108382246 G>A 1.0 3784 MELANOMA - - - - FKTN ENST00000357998,p.G359E|uc010mtm.3,p.G227E|NM_001198963,p.G359E|ENST00000448551,p.G359E|NM_006731,p.G359E|uc004bcr.3,p.G359E|ENST00000223528,p.G359E|uc004bcs.3,p.G359E|ENST00000602661,p.G359E|NM_001079802,p.G359E|uc011lvx.2,p.G359E protein_coding, processed_transcript uc011lvx.2 nonsynonymous SNV exon10 c.G1076A p.G359E GKVEDSLELSFQGKDDVKLDVFFFY GKVEDSLELSFQEKDDVKLDVFFFY 7.0 7.0 - - 3784_9:108382246-108382246 G>A_GKVEDSLELSFQEKDDVKLDVFFFY 0.0 7:128485246-128485246 C>T 1.0 3466 MELANOMA - - - - FLNC NM_001458,p.H1243Y|ENST00000346177,p.H1243Y|uc003vnz.4,p.H1243Y|NM_001127487,p.H1243Y|uc003voa.4,p.H1243Y|ENST00000325888,p.H1243Y retained_intron, protein_coding uc003voa.4 nonsynonymous SNV exon21 c.C3727T p.H1243Y GGHPVPKFPTRVHVQPAVDTSGVKV GGHPVPKFPTRVYVQPAVDTSGVKV 3.0 9.0 - - 3466_7:128485246-128485246 C>T_GGHPVPKFPTRVYVQPAVDTSGVKV 0.0 11:248971-248971 C>T 1.0 3713 MELANOMA - - - - PSMD13 ENST00000528906,p.R192W|ENST00000431206,p.R232W|uc001loo.2,p.R232W|NM_175932,p.R232W|uc001lol.2,p.R230W|ENST00000352303,p.R230W|uc001lon.2,p.R165W|ENST00000532097,p.R230W|NM_002817,p.R230W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001loo.2 nonsynonymous SNV exon7 c.C694T p.R232W MHPVLESLRNTDRQWLIDTLYAFNS MHPVLESLRNTDWQWLIDTLYAFNS 9.0 10.0 - - 3713_11:248971-248971 C>T_MHPVLESLRNTDWQWLIDTLYAFNS 0.0 10:70513718-70513718 C>A 1.0 4244 COLORECTAL - - - - CCAR1 NM_018237,p.P410T|ENST00000265872,p.P410T|uc001jon.1,p.P356T|ENST00000541012,p.P410T|uc010qiz.1,p.P395T|uc001jom.1,p.P215T|ENST00000539539,p.P395T|uc010qja.1,p.P395T|uc009xpx.1,p.P384T|uc001joo.3,p.P410T|NM_001282960,p.P395T|NM_001282959,p.P395T|ENST00000543225,p.P384T|ENST00000535016,p.P395T|ENST00000543719,p.P395T|ENST00000536012,p.P215T|ENST00000540210,p.P410T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010qja.1 nonsynonymous SNV exon10 c.C1183A p.P395T QFTWVDAFPLSRPFQLGNYCNFYVM QFTWVDAFPLSRTFQLGNYCNFYVM 10.0 8.0 - - 4244_10:70513718-70513718 C>A_QFTWVDAFPLSRTFQLGNYCNFYVM 0.0 8:133111129-133111129 C>A 0.0 4298 COLORECTAL - - - - HHLA1 ENST00000414222,p.D94Y|NM_001145095,p.D94Y|ENST00000434736,p.D130Y|uc011liy.1,p.D94Y retained_intron, protein_coding uc011liy.1 nonsynonymous SNV exon4 c.G280T p.D94Y ELVNGMLSRALKDSKKFFSLLSVTS ELVNGMLSRALKYSKKFFSLLSVTS 1.0 9.0 - - 4298_8:133111129-133111129 C>A_ELVNGMLSRALKYSKKFFSLLSVTS 0.0 10:98820452-98820452 G>A 0.0 2591 MELANOMA - - - - SLIT1 ENST00000371041,p.R296C|NM_003061,p.R296C|uc009xvh.1,p.R296C|ENST00000314867,p.R279C|ENST00000266058,p.R296C|uc001kmw.2,p.R296C|ENST00000371070,p.R296C protein_coding, processed_transcript uc009xvh.1 nonsynonymous SNV exon9 c.C886T p.R296C AMCTCSNGIVDCRGKGLTAIPANLP AMCTCSNGIVDCCGKGLTAIPANLP 2.0 4.0 - - 2591_10:98820452-98820452 G>A_AMCTCSNGIVDCCGKGLTAIPANLP 0.0 11:129940523-129940523 G>T 0.0 4335 COLORECTAL - - - - APLP2 NM_001243299,p.G6W|ENST00000278756,p.G6W|uc021qsg.1,p.G6W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021qsg.1 nonsynonymous SNV exon1 c.G16T p.G6W MLRAPGELPRQAARCSLC MLRAPWELPRQAARCSLC 10.0 7.0 - - 4335_11:129940523-129940523 G>T_MLRAPWELPRQAARCSLC 0.0 17:39767891-39767891 T>G 1.0 4245 COLORECTAL - - - - KRT16 ENST00000301653,p.K205T|uc002hxg.4,p.K205T|NM_005557,p.K205T retained_intron, protein_coding uc002hxg.4 nonsynonymous SNV exon2 c.A614C p.K205T DNARLAADDFRTKYEHELALRQTVE DNARLAADDFRTTYEHELALRQTVE 5.0 3.0 - - 4245_17:39767891-39767891 T>G_DNARLAADDFRTTYEHELALRQTVE 0.0 3:124413193-124413193 C>T 1.0 4000 MELANOMA - - - - KALRN NM_007064,p.L777F|ENST00000428018,p.L745F|ENST00000291478,p.L777F|uc003ehg.3,p.L2474F|uc003ehk.3,p.L777F|NM_001024660,p.L2474F|ENST00000360013,p.L2474F retained_intron, protein_coding, processed_transcript uc003ehk.3 nonsynonymous SNV exon20 c.C2329T p.L777F NPNFIQEVAPEFLVPLVDVTCLLGD NPNFIQEVAPEFFVPLVDVTCLLGD 8.0 4.0 - - 4000_3:124413193-124413193 C>T_NPNFIQEVAPEFFVPLVDVTCLLGD 0.0 5:78322369-78322369 C>G 0.0 3775 CERVICAL - - - - DMGDH ENST00000540686,p.D310H|uc011cte.1,p.D540H|uc011ctf.1,p.D489H|uc011ctg.1,p.D310H|ENST00000523732,p.D529H|uc003kfs.3,p.D690H|ENST00000380311,p.D489H|NM_013391,p.D690H|ENST00000255189,p.D690H protein_coding, processed_transcript, nonsense_mediated_decay uc011ctg.1 nonsynonymous SNV exon8 c.G928C p.D310H GELGWELYHRREDSVALYDAIMNAG GELGWELYHRREHSVALYDAIMNAG 3.0 7.0 - - 3775_5:78322369-78322369 C>G_GELGWELYHRREHSVALYDAIMNAG 0.0 2:169783670-169783670 G>A 0.0 4284 COLORECTAL - - - - ABCB11 NM_003742,p.P1205L|uc010zda.1,p.P623L|uc002ueo.1,p.P1205L|ENST00000263817,p.P1205L|uc010zdb.1,p.P681L retained_intron, protein_coding, nonsense_mediated_decay uc010zdb.1 nonsynonymous SNV exon13 c.C2042T p.P681L KQAQLHDFVMSLPEKYETNVGSQGS KQAQLHDFVMSLLEKYETNVGSQGS 3.0 6.0 - - 4284_2:169783670-169783670 G>A_KQAQLHDFVMSLLEKYETNVGSQGS 0.0 15:85619107-85619107 C>T 1.0 4213 COLORECTAL - - - - PDE8A ENST00000339708,p.S150L|ENST00000478717,p.S150L|ENST00000485596,p.S150L|ENST00000559742,p.S150L|NM_173454,p.S150L|ENST00000310298,p.S150L|NM_001243137,p.S78L|uc002bli.3,p.S150L|ENST00000557957,p.S78L|uc002blh.3,p.S150L|ENST00000394553,p.S150L|NM_002605,p.S150L|uc021stv.1,p.S78L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021stv.1 nonsynonymous SNV exon4 c.C233T p.S78L LDAEALCRSIRSSKLSENTVIVGVV LDAEALCRSIRSLKLSENTVIVGVV 9.0 6.0 - - 4213_15:85619107-85619107 C>T_LDAEALCRSIRSLKLSENTVIVGVV 0.0 20:42788700-42788700 G>A 0.0 4246 COLORECTAL - - - - JPH2 ENST00000372980,p.R243C|NM_020433,p.R243C|uc002xli.1,p.R243C protein_coding uc002xli.1 nonsynonymous SNV exon2 c.C727T p.R243C RRAESRTSVGSQRSRVSFLKSDLSS RRAESRTSVGSQCSRVSFLKSDLSS 3.0 3.0 - - 4246_20:42788700-42788700 G>A_RRAESRTSVGSQCSRVSFLKSDLSS 0.0 1:46073339-46073339 A>C 1.0 4320 COLORECTAL - - - - NASP ENST00000402363,p.E254D|uc001cok.2,p.E135D|uc010olr.2,p.E188D|NM_001195193,p.E188D|uc021omz.1,p.E254D|uc010olq.2,p.E215D|ENST00000470768,p.E215D|uc001coi.2,p.E252D|NM_002482,p.E252D|ENST00000350030,p.E252D|ENST00000537798,p.E188D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021omz.1 nonsynonymous SNV exon7 c.A762C p.E254D EEEKSVSGTDVQEECREKGGQEKQG EEEKSVSGTDVQDECREKGGQEKQG 10.0 3.0 - - 4320_1:46073339-46073339 A>C_EEEKSVSGTDVQDECREKGGQEKQG 0.0 8:100975135-100975137 TTC>- 0.0 4196 COLORECTAL - - - - RGS22 ENST00000523287,p.1048_1048del|ENST00000360863,p.1229_1229del|NM_001286692,p.1217_1217del|uc003yjb.1,p.1229_1229del|uc003yjc.1,p.1217_1217del|uc003yja.1,p.1048_1048del|uc022azf.1,p.618_618del|NM_001286693,p.1048_1048del|ENST00000523437,p.1217_1217del|NM_015668,p.1229_1229del retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc022azf.1 nonframeshift deletion exon14 c.1852_1854del p.618_618del LEQERILLKIQEELEKKLFAGLQPL LEQERILLKIQELEKKLFAGLQPLT 5.0 4.0 - - 4196_8:100975135-100975137 TTC>-_LEQERILLKIQELEKKLFAGLQPLT 0.0 17:26712088-26712088 C>A 1.0 3919 MELANOMA - - - - SARM1 uc002hbe.1,p.T19N|ENST00000457710,p.T441N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002hbe.1 nonsynonymous SNV exon2 c.C56A p.T19N RKRFFRELTELKTFANYSTCDRSNL RKRFFRELTELKNFANYSTCDRSNL 10.0 3.0 - - 3919_17:26712088-26712088 C>A_RKRFFRELTELKNFANYSTCDRSNL 0.0 1:210856714-210856714 G>A 0.0 4301 MELANOMA - - ID=COSM1689791;OCCURENCE=1(skin) - KCNH1 uc001hib.2,p.S960F|uc001hic.2,p.S933F|ENST00000367007,p.S933F|NM_172362,p.S960F|NM_002238,p.S933F|ENST00000271751,p.S960F protein_coding uc001hic.2 nonsynonymous SNV exon11 c.C2798T p.S933F EKQLSEILRILTSRRSSQSPQELFE EKQLSEILRILTFRRSSQSPQELFE 2.0 5.0 - - 4301_1:210856714-210856714 G>A_EKQLSEILRILTFRRSSQSPQELFE 0.0 18:50432624-50432624 G>A 0.0 4301 MELANOMA - - - 2 DCC ENST00000442544,p.G208E|ENST00000412726,p.G56E|uc010xdr.1,p.G56E|NM_005215,p.G208E|uc002lfe.2,p.G208E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010xdr.1 nonsynonymous SNV exon3 c.G167A p.G56E ALQISRLQPGDIGIYRCSARNPASS ALQISRLQPGDIEIYRCSARNPASS 4.0 8.0 - - 4301_18:50432624-50432624 G>A_ALQISRLQPGDIEIYRCSARNPASS 0.0 11:61549105-61549105 C>T 0.0 4081 COLORECTAL - - - - MYRF ENST00000389602,p.S333L|uc010rll.1,p.S333L|uc001nse.1,p.S907L|uc001nsc.1,p.S942L|ENST00000265460,p.S907L|NM_013279,p.S907L|ENST00000278836,p.S942L|NM_001127392,p.S942L retained_intron, protein_coding uc010rll.1 nonsynonymous SNV exon10 c.C998T p.S333L PVTNIRAKSWGLSVNGIGHSKHHKS PVTNIRAKSWGLLVNGIGHSKHHKS 3.0 7.0 - - 4081_11:61549105-61549105 C>T_PVTNIRAKSWGLLVNGIGHSKHHKS 0.0 9:123169329-123169329 C>T 1.0 4246 COLORECTAL - - - - CDK5RAP2 uc010mvi.3,p.V651M|ENST00000416449,p.V1036M|uc011lya.3,p.V907M|NM_018249,p.V1642M|ENST00000425647,p.V652M|uc011lxz.3,p.V907M|uc011lxw.3,p.V907M|ENST00000360822,p.V1610M|NM_001272039,p.V1412M|uc004bkf.4,p.V1642M|ENST00000349780,p.V1642M|uc004bke.3,p.V927M|ENST00000359309,p.V1601M|uc004bkh.2,p.V1412M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011lya.3 nonsynonymous SNV exon32 c.G2719A p.V907M AQEGALTLAVQAVSIPEVPLQPDKH AQEGALTLAVQAMSIPEVPLQPDKH 10.0 9.0 - - 4246_9:123169329-123169329 C>T_AQEGALTLAVQAMSIPEVPLQPDKH 0.0 3:32586554-32586554 G>A 1.0 4240 BREAST - - - - DYNC1LI1 ENST00000413350,p.H77Y|ENST00000273130,p.H128Y|uc003cfb.4,p.H128Y|NM_016141,p.H128Y|ENST00000424991,p.H169Y retained_intron, protein_coding uc003cfb.4 nonsynonymous SNV exon4 c.C382T p.H128Y RCNVWILDGDLYHKGLLKFSLDAVS RCNVWILDGDLYYKGLLKFSLDAVS 8.0 10.0 - - 4240_3:32586554-32586554 G>A_RCNVWILDGDLYYKGLLKFSLDAVS 0.0 2:179505979-179505979 T>G 0.0 4160 COLORECTAL - - - - TTN ENST00000359218,p.K4601T|ENST00000414766,p.K862T|NM_001267550,p.K13541T|uc021vsy.2,p.K10973T|NM_001256850,p.K11900T|ENST00000460472,p.K4476T|uc031rqd.1,p.K11900T|ENST00000591111,p.K11900T|uc021vtb.2,p.K4476T|uc031rqc.1,p.K13541T|NM_133437,p.K4668T|NM_133432,p.K4601T|NM_133378,p.K10973T|NM_003319,p.K4476T|uc021vta.2,p.K4601T|uc010fre.1,p.K851T|ENST00000589042,p.K13541T|ENST00000342992,p.K10973T|ENST00000342175,p.K4668T|uc021vsz.2,p.K4668T retained_intron, protein_coding uc031rqd.1 nonsynonymous SNV exon170 c.A35699C p.K11900T EPKVEPKKLEKVKKPAVPEPPPPKP EPKVEPKKLEKVTKPAVPEPPPPKP 1.0 5.0 - - 4160_2:179505979-179505979 T>G_EPKVEPKKLEKVTKPAVPEPPPPKP 0.0 4:148575273-148575273 G>A 1.0 2556 MELANOMA - - - 1 PRMT9 NM_138364,p.S592F|ENST00000322396,p.S592F|uc003ilc.3,p.S592F|uc003ilb.3,p.S236F|ENST00000541232,p.S479F|uc003ild.3,p.S479F retained_intron, protein_coding, nonsense_mediated_decay uc003ild.3 nonsynonymous SNV exon8 c.C1436T p.S479F EPFYVLDVSEGFSVLPVIAGTLGQV EPFYVLDVSEGFFVLPVIAGTLGQV 6.0 3.0 - - 2556_4:148575273-148575273 G>A_EPFYVLDVSEGFFVLPVIAGTLGQV 0.0 7:73461078-73461078 C>G 0.0 3775 CERVICAL - - - 2 ELN uc003tzo.3,p.I208M|ENST00000380553,p.I105M|NM_001278913,p.I186M|uc003tzq.3,p.I105M|uc003tzz.3,p.I186M|ENST00000320492,p.I186M|ENST00000438880,p.I83M|ENST00000380584,p.I208M|NM_001278916,p.I208M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003tzz.3 nonsynonymous SNV exon10 c.C558G p.I186M GGPQPGVPLGYPIKAPKLPGYGPGG GGPQPGVPLGYPMKAPKLPGYGPGG 10.0 9.0 - - 3775_7:73461078-73461078 C>G_GGPQPGVPLGYPMKAPKLPGYGPGG 0.0 16:58438421-58438421 C>T 1.0 3713 MELANOMA - - ID=COSM3818177,COSM3818178;OCCURENCE=1(breast) - GINS3 uc002enh.4,p.R147C|uc010cdj.3,p.R186C|ENST00000426538,p.R186C|NM_022770,p.R147C|ENST00000318129,p.R147C|NM_001126129,p.R186C retained_intron, protein_coding, processed_transcript uc010cdj.3 nonsynonymous SNV exon4 c.C556T p.R186C SQSLLQTFIGRFRRIMDSSQNAYNE SQSLLQTFIGRFCRIMDSSQNAYNE 4.0 2.0 - - 3713_16:58438421-58438421 C>T_SQSLLQTFIGRFCRIMDSSQNAYNE 0.0 7:140301539-140301539 G>A 0.0 4301 MELANOMA 0.0027 - - - DENND2A ENST00000275884,p.S220L|uc003vvw.3,p.S220L|ENST00000492720,p.S220L|ENST00000537639,p.S220L|uc010lnk.3,p.S220L|ENST00000496613,p.S220L|uc003vvx.3,p.S220L|NM_015689,p.S220L|uc010lnj.3,p.S220L|ENST00000461883,p.S220L protein_coding, nonsense_mediated_decay uc010lnk.3 nonsynonymous SNV exon3 c.C659T p.S220L GSGSEVSQRVHPSDLEGREPTPELV GSGSEVSQRVHPLDLEGREPTPELV 6.0 8.0 - - 4301_7:140301539-140301539 G>A_GSGSEVSQRVHPLDLEGREPTPELV 0.0 X:96213055-96213055 C>T 1.0 2556 MELANOMA - - - - DIAPH2 NM_007309,p.P615S|uc004efu.4,p.P615S|ENST00000373054,p.P611S|ENST00000355827,p.P615S|ENST00000373049,p.P615S|ENST00000373061,p.P615S|uc004eft.4,p.P615S|ENST00000324765,p.P615S|NM_006729,p.P615S protein_coding uc004efu.4 nonsynonymous SNV exon16 c.C1843T p.P615S PPPPPPLGGVPPPPGISLNLPYGMK PPPPPPLGGVPPSPGISLNLPYGMK 8.0 9.0 - - 2556_X:96213055-96213055 C>T_PPPPPPLGGVPPSPGISLNLPYGMK 0.0 7:2041710-2041710 C>T 1.0 2369 MELANOMA - - - - MAD1L1 uc010ksh.1,p.R469K|uc010ksj.3,p.R469K|ENST00000444373,p.R59K|ENST00000406869,p.R469K|uc003sle.1,p.R198K|uc003slh.1,p.R469K|uc003sli.1,p.R377K|uc010ksi.1,p.R422K|uc003slf.1,p.R469K|NM_001013836,p.R469K|ENST00000402746,p.R377K|ENST00000265854,p.R469K|NM_003550,p.R469K|uc003slg.1,p.R469K|NM_001013837,p.R469K|ENST00000438959,p.R136K|ENST00000399654,p.R469K protein_coding, processed_transcript uc010ksj.3 nonsynonymous SNV exon14 c.G1406A p.R469K SQALEELGGQKQRADMLEMELKMLK SQALEELGGQKQKADMLEMELKMLK 10.0 5.0 - - 2369_7:2041710-2041710 C>T_SQALEELGGQKQKADMLEMELKMLK 0.0 10:44112052-44112052 A>C 1.0 4196 COLORECTAL - - - - ZNF485 NM_145312,p.R187S|ENST00000374435,p.R187S|uc010qfd.2,p.R96S|uc010qfc.2,p.R187S|ENST00000374437,p.R96S|ENST00000361807,p.R187S retained_intron, protein_coding uc010qfd.2 nonsynonymous SNV exon3 c.A288C p.R96S NHHKVHAGKQPYRCIECGKFLKKHS NHHKVHAGKQPYSCIECGKFLKKHS 7.0 7.0 - - 4196_10:44112052-44112052 A>C_NHHKVHAGKQPYSCIECGKFLKKHS 0.0 19:17692118-17692118 C>G 1.0 4284 COLORECTAL - - - - COLGALT1 uc002nhc.1,p.N578K|ENST00000252599,p.N578K|NM_024656,p.N578K retained_intron, protein_coding, processed_transcript uc002nhc.1 nonsynonymous SNV exon12 c.C1734G p.N578K GYVSDTETSVVWNNEHVKTDWDRAK GYVSDTETSVVWKNEHVKTDWDRAK 9.0 6.0 - - 4284_19:17692118-17692118 C>G_GYVSDTETSVVWKNEHVKTDWDRAK 0.0 7:100336109-100336109 T>A 0.0 4246 COLORECTAL - - - - ZAN ENST00000542585,p.F213L|ENST00000538115,p.F213L|uc003uwk.3,p.F213L|uc003uwj.3,p.F213L|ENST00000546292,p.F213L protein_coding, polymorphic_pseudogene uc003uwk.3 nonsynonymous SNV exon7 c.T639A p.F213L SCNRVCMMQTCSFDIPNDLCDWTWI SCNRVCMMQTCSLDIPNDLCDWTWI 1.0 2.0 - - 4246_7:100336109-100336109 T>A_SCNRVCMMQTCSLDIPNDLCDWTWI 0.0 1:247024356-247024356 G>A 1.0 3713 MELANOMA - - - - AHCTF1 uc001ibv.2,p.S1335L|NM_015446,p.S1335L|ENST00000326225,p.S1335L|ENST00000391829,p.S1326L|uc009xgs.1,p.S187L|ENST00000366508,p.S1361L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009xgs.1 nonsynonymous SNV exon20 c.C560T p.S187L SDETTLEYQDAPSPEDLEETVFTAS SDETTLEYQDAPLPEDLEETVFTAS 8.0 4.0 - - 3713_1:247024356-247024356 G>A_SDETTLEYQDAPLPEDLEETVFTAS 0.0 22:30824484-30824484 A>C 1.0 4320 COLORECTAL - - - - MTFP1 uc003ahw.2,p.K155T|ENST00000266263,p.K155T|NM_016498,p.K155T|ENST00000407550,p.K132T|ENST00000439838,p.K327T|uc003ahv.1,p.K317T protein_coding,retained_intron, nonsense_mediated_decay uc003ahw.2 nonsynonymous SNV exon4 c.A464C p.K155T RSVDFLLDSSLRKLYPTVGKPSSS RSVDFLLDSSLRTLYPTVGKPSSS 6.0 4.0 - - 4320_22:30824484-30824484 A>C_RSVDFLLDSSLRTLYPTVGKPSSS 0.0 1:235577773-235577773 C>T 1.0 3713 MELANOMA - - - - TBCE uc001hwz.1,p.R71C|ENST00000543662,p.R71C|NM_001287801,p.R71C|NM_001079515,p.R71C|NM_003193,p.R71C|uc001hxa.1,p.R71C|ENST00000406207,p.R71C|uc010pxr.1,p.R71C|ENST00000366601,p.R71C protein_coding, processed_transcript uc010pxr.1 nonsynonymous SNV exon4 c.C211T p.R71C FKCRHPTGGSFIRPNKVNFGTDFLT FKCRHPTGGSFICPNKVNFGTDFLT 5.0 3.0 - - 3713_1:235577773-235577773 C>T_FKCRHPTGGSFICPNKVNFGTDFLT 0.0 1:46089512-46089512 C>T 1.0 4326 BREAST - - - - CCDC17 uc009vxz.3,p.A24T|ENST00000528266,p.A24T|NM_001114938,p.A24T|ENST00000479529,p.A24T|ENST00000445048,p.A24T|ENST00000421127,p.A24T|ENST00000343901,p.A24T|uc010ols.2,p.A24T|NM_001190182,p.A24T|uc010olt.2,p.A24T|ENST00000372044,p.A24T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010olt.2 nonsynonymous SNV exon1 c.G70A p.A24T PCGTCDMVFRSSALLATHTQRFCIG PCGTCDMVFRSSTLLATHTQRFCIG 4.0 5.0 - - 4326_1:46089512-46089512 C>T_PCGTCDMVFRSSTLLATHTQRFCIG 0.0 5:134705805-134705805 G>A 1.0 3713 MELANOMA - - - - H2AFY NM_001040158,p.A67V|uc003las.1,p.A67V|uc003lam.1,p.A67V|NM_138610,p.A67V|ENST00000510038,p.A67V|uc003lat.1,p.A67V|uc003lan.1,p.A67V|NM_138609,p.A67V|ENST00000506671,p.A67V|ENST00000304332,p.A67V|ENST00000511689,p.A67V|ENST00000312469,p.A67V|uc003lao.1,p.A67V|NM_004893,p.A67V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003lat.1 nonsynonymous SNV exon3 c.C200T p.A67V YLTAEILELAGNAARDNKKGRVTPR YLTAEILELAGNVARDNKKGRVTPR 10.0 8.0 - - 3713_5:134705805-134705805 G>A_YLTAEILELAGNVARDNKKGRVTPR 0.0 9:35403193-35403193 G>C 1.0 4126 NSCLC - - - - UNC13B NM_006377,p.V1423L|uc003zwq.3,p.V1423L|ENST00000378495,p.V1423L protein_coding, processed_transcript uc003zwq.3 nonsynonymous SNV exon37 c.G4267C p.V1423L TQGSGVDDPVGEVSIQVDLFTHPGT TQGSGVDDPVGELSIQVDLFTHPGT 5.0 10.0 - - 4126_9:35403193-35403193 G>C_TQGSGVDDPVGELSIQVDLFTHPGT 0.0 4:126239730-126239730 G>T 0.0 4335 COLORECTAL - - - 1 FAT4 ENST00000394329,p.G722C|NM_001291303,p.G722C|NM_024582,p.G722C|uc003ifj.4,p.G722C|NM_001291285,p.G722C retained_intron, protein_coding uc003ifj.4 nonsynonymous SNV exon1 c.G2164T p.G722C TVSATDPDLGTNGTVKYSISAGDRS TVSATDPDLGTNCTVKYSISAGDRS 5.0 5.0 - - 4335_4:126239730-126239730 G>T_TVSATDPDLGTNCTVKYSISAGDRS 0.0 4:47939621-47939621 A>C 0.0 3903 MELANOMA - - - - CNGA1 uc003gxu.3,p.I366S|ENST00000514170,p.I297S|ENST00000544810,p.I297S|ENST00000358519,p.I297S|NM_000087,p.I297S|NM_001142564,p.I366S|uc003gxt.4,p.I297S|ENST00000420489,p.I297S|ENST00000402813,p.I366S retained_intron, protein_coding uc003gxu.3 nonsynonymous SNV exon10 c.T1097G p.I366S FQRTETRTNYPNIFRISNLVMYIVI FQRTETRTNYPNSFRISNLVMYIVI 2.0 9.0 - - 3903_4:47939621-47939621 A>C_FQRTETRTNYPNSFRISNLVMYIVI 0.0 5:127673796-127673796 C>T 0.0 4298 COLORECTAL - - ID=COSM292256,COSM292257;OCCURENCE=1(large_intestine) - FBN2 ENST00000508053,p.R1164H|NM_001999,p.R1164H|ENST00000507835,p.R14H|ENST00000508989,p.R1131H|uc003kuu.3,p.R1164H|uc003kuv.2,p.R1131H|ENST00000262464,p.R1164H retained_intron, protein_coding, processed_transcript uc003kuv.2 nonsynonymous SNV exon26 c.G3392A p.R1131H MMKNCMDIDECERNPLLCRGGTCVN MMKNCMDIDECEHNPLLCRGGTCVN 2.0 10.0 - - 4298_5:127673796-127673796 C>T_MMKNCMDIDECEHNPLLCRGGTCVN 0.0 18:57106810-57106810 C>T 0.0 3713 MELANOMA - - - - CCBE1 ENST00000398179,p.G35S|uc010dpq.3,p.G35S retained_intron, protein_coding uc010dpq.3 nonsynonymous SNV exon3 c.G103A p.G35S DLLACLGARALPGPPGAPGRDGSKG DLLACLGARALPSPPGAPGRDGSKG 2.0 1.0 - - 3713_18:57106810-57106810 C>T_DLLACLGARALPSPPGAPGRDGSKG 0.0 13:21563290-21563290 G>A 1.0 2556 MELANOMA - - - - LATS2 uc001unr.4,p.P210L|ENST00000382592,p.P210L|ENST00000542899,p.P210L|uc009zzs.3,p.P210L|NM_014572,p.P210L protein_coding, processed_transcript uc009zzs.3 nonsynonymous SNV exon4 c.C629T p.P210L ADGPTALEEMPRPYVDYLFPGVGPH ADGPTALEEMPRLYVDYLFPGVGPH 9.0 5.0 - - 2556_13:21563290-21563290 G>A_ADGPTALEEMPRLYVDYLFPGVGPH 0.0 6:32117436-32117436 C>T 0.0 4189 MELANOMA - - - - PRRT1 NM_030651,p.G208S|ENST00000375152,p.G127S|ENST00000375150,p.G127S|uc003nzt.3,p.G208S|uc003nzs.3,p.G249S|ENST00000211413,p.G208S retained_intron, protein_coding, processed_transcript uc003nzt.3 nonsynonymous SNV exon3 c.G622A p.G208S TGVTSTLPPPPQGPGLALLEPRRPP TGVTSTLPPPPQSPGLALLEPRRPP 5.0 6.0 - - 4189_6:32117436-32117436 C>T_TGVTSTLPPPPQSPGLALLEPRRPP 0.0 22:29279984-29279988 ACACC>- 1.0 4160 COLORECTAL - - - 2 ZNRF3 uc003aeg.3,p.Y77fs|NM_001206998,p.Y77fs|ENST00000544604,p.Y77fs protein_coding uc003aeg.3 frameshift deletion exon1 c.230_234del p.Y77fs LFESSPSGDYTTYTTGLTGRFSRAG LFESSPSGDYTTYRPHGPLLAGRGHAQRRGRDRADAPTGPM 7.0 9.0 - - 4160_22:29279984-29279988 ACACC>-_LFESSPSGDYTTYRPHGPLLAGRGHAQRRGRDRADAPTGPM 0.0 9:104432734-104432734 C>A 0.0 4278 COLORECTAL - - ID=COSM1553817;OCCURENCE=1(lung) - GRIN3A ENST00000361820,p.G654C|uc004bbp.2,p.G654C|uc004bbq.1,p.G654C|NM_133445,p.G654C protein_coding, processed_transcript uc004bbq.1 nonsynonymous SNV exon3 c.G1960T p.G654C IDFTSPFFSTSLGILVRTRDTAAPI IDFTSPFFSTSLCILVRTRDTAAPI 2.0 8.0 - - 4278_9:104432734-104432734 C>A_IDFTSPFFSTSLCILVRTRDTAAPI 0.0 2:26501592-26501592 G>C 1.0 4244 COLORECTAL - - ID=COSM1306644;OCCURENCE=1(urinary_tract) - HADHB NM_000183,p.D185H|NM_001281513,p.D163H|ENST00000537713,p.D170H|uc002rgz.3,p.D185H|uc010ykx.2,p.D111H|uc010ykw.2,p.D170H|ENST00000545822,p.D163H|uc010ykv.2,p.D163H|ENST00000317799,p.D185H|NM_001281512,p.D170H retained_intron, protein_coding, processed_transcript uc010ykx.2 nonsynonymous SNV exon4 c.G331C p.D111H IRHSRKMRKLMLDLNKAKSMGQRLS IRHSRKMRKLMLHLNKAKSMGQRLS 10.0 4.0 - - 4244_2:26501592-26501592 G>C_IRHSRKMRKLMLHLNKAKSMGQRLS 0.0 8:67062045-67062045 A>T 0.0 4266 COLORECTAL - - - - TRIM55 uc003xvu.3,p.N257Y|ENST00000276573,p.N257Y|uc003xvw.3,p.N257Y|NM_184085,p.N257Y|NM_033058,p.N257Y|uc003xvv.3,p.N257Y|NM_184086,p.N257Y|ENST00000353317,p.N257Y|ENST00000315962,p.N257Y retained_intron, protein_coding uc003xvw.3 nonsynonymous SNV exon5 c.A769T p.N257Y RALIKKYSDHLENVSKLVESGIQFM RALIKKYSDHLEYVSKLVESGIQFM 4.0 9.0 - - 4266_8:67062045-67062045 A>T_RALIKKYSDHLEYVSKLVESGIQFM 0.0 X:114427080-114427080 C>T 0.0 4110 BILE DUCT - - - - RBMXL3 ENST00000424776,p.P1026S|uc011mte.1,p.P1026S|NM_001145346,p.P1026S protein_coding uc011mte.1 nonsynonymous SNV exon1 c.C3076T p.P1026S GRDRVGRPDRGLPLPMETGSPPLHD GRDRVGRPDRGLSLPMETGSPPLHD 1.0 5.0 - - 4110_X:114427080-114427080 C>T_GRDRVGRPDRGLSLPMETGSPPLHD 0.0 X:24732688-24732688 C>T 0.0 4245 COLORECTAL - - - - POLA1 uc004dbl.3,p.R116C|uc004dbm.3,p.R122C|ENST00000379068,p.R122C|NM_016937,p.R116C|ENST00000379059,p.R116C protein_coding, processed_transcript uc004dbm.3 nonsynonymous SNV exon5 c.C364T p.R122C LDADEKGKDGKARNKDKRNVKKLAV LDADEKGKDGKACNKDKRNVKKLAV 8.0 7.0 - - 4245_X:24732688-24732688 C>T_LDADEKGKDGKACNKDKRNVKKLAV 0.0 1:11889363-11889363 A>G 1.0 4335 COLORECTAL - - ID=COSM3801450;OCCURENCE=1(breast) - CLCN6 NM_001256959,p.D389G|ENST00000376487,p.D389G|uc010oat.3,p.D127G|NM_001286,p.D411G|ENST00000376496,p.D411G|uc001ate.5,p.D411G|ENST00000346436,p.D411G|uc010oau.3,p.D389G protein_coding, processed_transcript uc010oau.3 nonsynonymous SNV exon12 c.A1166G p.D389G CRQMSSSSQIGNDSFQLQVTEDVNS CRQMSSSSQIGNGSFQLQVTEDVNS 7.0 6.0 - - 4335_1:11889363-11889363 A>G_CRQMSSSSQIGNGSFQLQVTEDVNS 0.0 6:62407100-62407100 C>T 0.0 4287 COLORECTAL - - - - KHDRBS2 ENST00000281156,p.A318T|uc003peg.2,p.A318T|NM_152688,p.A318T protein_coding uc003peg.2 nonsynonymous SNV exon8 c.G952A p.A318T GHGVSEDAYDSYAPEEWATTRSSLK GHGVSEDAYDSYTPEEWATTRSSLK 3.0 10.0 - - 4287_6:62407100-62407100 C>T_GHGVSEDAYDSYTPEEWATTRSSLK 0.0 16:29756005-29756005 C>T 0.0 4238 COLORECTAL - - - - C16orf54 ENST00000329410,p.E90K|uc002dtp.2,p.E90K|NM_175900,p.E90K protein_coding uc002dtp.2 nonsynonymous SNV exon2 c.G268A p.E90K GELWIEPMGTARERSEDWYGSAVPL GELWIEPMGTARKRSEDWYGSAVPL 2.0 10.0 - - 4238_16:29756005-29756005 C>T_GELWIEPMGTARKRSEDWYGSAVPL 0.0 5:176024176-176024176 G>A 1.0 3784 MELANOMA - - - - GPRIN1 NM_052899,p.P887L|uc021yif.1,p.P887L|uc003meo.1,p.P887L|ENST00000303991,p.P887L protein_coding uc021yif.1 nonsynonymous SNV exon1 c.C2660T p.P887L PMTPQAAAPPAFPEVRVRPGSALAA PMTPQAAAPPAFLEVRVRPGSALAA 5.0 8.0 - - 3784_5:176024176-176024176 G>A_PMTPQAAAPPAFLEVRVRPGSALAA 0.0 17:78081609-78081609 A>G 1.0 4180 BREAST - - - - GAA ENST00000390015,p.N290S|NM_001079803,p.N290S|uc002jxq.3,p.N290S|uc002jxp.3,p.N290S|NM_001079804,p.N290S|uc002jxo.3,p.N290S|NM_000152,p.N290S|ENST00000302262,p.N290S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002jxq.3 nonsynonymous SNV exon5 c.A869G p.N290S LWNRDLAPTPGANLYGSHPFYLALE LWNRDLAPTPGASLYGSHPFYLALE 10.0 7.0 CD8 - 4180_17:78081609-78081609 A>G_LWNRDLAPTPGASLYGSHPFYLALE 2.0 1:36316576-36316576 C>T 1.0 3466 MELANOMA - - - - AGO4 ENST00000373210,p.S800F|NM_017629,p.S800F|uc001bzj.2,p.S800F protein_coding, processed_transcript uc001bzj.2 nonsynonymous SNV exon17 c.C2399T p.S800F LCHTYVRCTRSVSIPAPAYYARLVA LCHTYVRCTRSVFIPAPAYYARLVA 6.0 7.0 - - 3466_1:36316576-36316576 C>T_LCHTYVRCTRSVFIPAPAYYARLVA 0.0 12:52374773-52374773 C>T 1.0 4196 COLORECTAL - - - - ACVR1B uc001rzm.3,p.R201C|ENST00000415850,p.R201C|ENST00000426655,p.R201C|NM_020327,p.R149C|uc001rzn.3,p.R201C|ENST00000542485,p.R149C|uc010snn.2,p.R201C|uc021qya.1,p.R149C|ENST00000257963,p.R201C|NM_004302,p.R201C|NM_020328,p.R201C|ENST00000541224,p.R201C|uc001rzl.3,p.R201C protein_coding, processed_transcript, nonsense_mediated_decay uc021qya.1 nonsynonymous SNV exon4 c.C445T p.R149C SGSGSGLPLFVQRTVARTIVLQEII SGSGSGLPLFVQCTVARTIVLQEII 9.0 6.0 - - 4196_12:52374773-52374773 C>T_SGSGSGLPLFVQCTVARTIVLQEII 0.0 X:47774736-47774736 T>G 0.0 4177 PANCREATIC - - - - ZNF81 uc010nhy.2,p.S231A|ENST00000376954,p.S231A|NM_007137,p.S231A|uc022bvq.1,p.S231A|ENST00000338637,p.S231A protein_coding, processed_transcript uc022bvq.1 nonsynonymous SNV exon5 c.T691G p.S231A KTIGHGQVFTQNSSYSHHENTHTGV KTIGHGQVFTQNASYSHHENTHTGV 6.0 1.0 - - 4177_X:47774736-47774736 T>G_KTIGHGQVFTQNASYSHHENTHTGV 0.0 1:207134283-207134283 G>A 0.0 3795 MELANOMA - - - - FCAMR NM_001170631,p.P313L|uc001hfa.4,p.P313L|uc021pig.1,p.P228L|ENST00000324852,p.P313L protein_coding, processed_transcript, nonsense_mediated_decay uc021pig.1 nonsynonymous SNV exon3 c.C683T p.P228L SVKAPAPIPESPPSKSRSMSNTTEG SVKAPAPIPESPLSKSRSMSNTTEG 1.0 7.0 - - 3795_1:207134283-207134283 G>A_SVKAPAPIPESPLSKSRSMSNTTEG 0.0 6:148848652-148848652 C>T 1.0 3466 MELANOMA - - - - SASH1 NM_015278,p.L450F|uc003qme.1,p.L450F|ENST00000367467,p.L450F|uc011eeb.1,p.L211F protein_coding, processed_transcript uc011eeb.1 nonsynonymous SNV exon5 c.C631T p.L211F EVIKSPTASRISLGKKVKSVKETMR EVIKSPTASRISFGKKVKSVKETMR 8.0 9.0 - - 3466_6:148848652-148848652 C>T_EVIKSPTASRISFGKKVKSVKETMR 0.0 10:46967469-46967469 C>T 0.0 4259 COLORECTAL - - ID=COSM1347897,COSM1347898,COSM1347896;OCCURENCE=1(large_intestine) - SYT15 ENST00000374323,p.R256H|ENST00000503753,p.R203H|ENST00000512997,p.R87H|uc001jeb.3,p.R81H|uc001jea.3,p.R203H|ENST00000374325,p.R203H|NM_031912,p.R203H|ENST00000374321,p.R203H|NM_181519,p.R203H|uc001jdz.2,p.R203H protein_coding, processed_transcript uc001jeb.3 nonsynonymous SNV exon3 c.G242A p.R81H PDERRFLQSKTKRKTSNPQFDEHFI PDERRFLQSKTKHKTSNPQFDEHFI 6.0 5.0 - - 4259_10:46967469-46967469 C>T_PDERRFLQSKTKHKTSNPQFDEHFI 0.0 17:33690684-33690684 C>T 1.0 4234 NSCLC - - - - SLFN11 ENST00000588579,p.R48Q|uc010ctp.3,p.R48Q|NM_001104588,p.R48Q|NM_001104589,p.R48Q|uc002hjg.4,p.R48Q|NM_152270,p.R48Q|ENST00000591682,p.R48Q|uc002hjh.4,p.R48Q|ENST00000589811,p.R48Q|ENST00000394566,p.R48Q|ENST00000441608,p.R48Q|ENST00000427966,p.R48Q|ENST00000430814,p.R48Q|uc010ctr.3,p.R48Q|NM_001104587,p.R48Q|NM_001104590,p.R48Q|ENST00000308377,p.R48Q|uc010ctq.3,p.R48Q retained_intron, protein_coding uc010ctr.3 nonsynonymous SNV exon3 c.G143A p.R48Q KIQRDQEKERVMRAACALLNSGGGV KIQRDQEKERVMQAACALLNSGGGV 9.0 5.0 CD8 - 4234_17:33690684-33690684 C>T_KIQRDQEKERVMQAACALLNSGGGV 1.0 12:117612137-117612137 G>T 1.0 3678 MELANOMA - - - - FBXO21 NM_015002,p.S250Y|uc009zwq.3,p.S250Y|NM_033624,p.S250Y|ENST00000427718,p.S250Y|uc001twj.3,p.S250Y|uc001twk.3,p.S250Y|ENST00000330622,p.S250Y protein_coding, processed_transcript uc009zwq.3 nonsynonymous SNV exon6 c.C749A p.S250Y RHPSLAFKAGESSMIMEIELQSQVL RHPSLAFKAGESYMIMEIELQSQVL 9.0 5.0 CD8 - 3678_12:117612137-117612137 G>T_RHPSLAFKAGESYMIMEIELQSQVL 1.0 12:55968382-55968382 C>T 0.0 4287 COLORECTAL - - ID=COSM3384499;OCCURENCE=1(pancreas) - OR2AP1 uc031qhr.1,p.R62W|NM_001258285,p.R62W|ENST00000321688,p.R62W protein_coding uc031qhr.1 nonsynonymous SNV exon1 c.C184T p.R62W DSHLQTPMYFFLRNFSFLEISFTNI DSHLQTPMYFFLWNFSFLEISFTNI 1.0 9.0 - - 4287_12:55968382-55968382 C>T_DSHLQTPMYFFLWNFSFLEISFTNI 0.0 1:62740093-62740093 A>T 0.0 3903 MELANOMA - - - - KANK4 NM_181712,p.V228D|ENST00000371153,p.V228D|uc001dah.4,p.V228D protein_coding uc001dah.4 nonsynonymous SNV exon3 c.T683A p.V228D SSPRASTRIPELVQEGAEPPEGVVK SSPRASTRIPELDQEGAEPPEGVVK 1.0 9.0 - - 3903_1:62740093-62740093 A>T_SSPRASTRIPELDQEGAEPPEGVVK 0.0 2:74760778-74760778 C>G 0.0 4186 BREAST - - - - LOXL3 NM_032603,p.R739S|uc010ffm.1,p.R683S|ENST00000264094,p.R739S|uc002smq.1,p.R594S|ENST00000409549,p.R683S|NM_001289165,p.R378S|ENST00000393937,p.R594S|uc002smp.1,p.R739S|ENST00000409249,p.R457S|uc002smo.1,p.R378S|NM_001289164,p.R594S retained_intron, protein_coding, processed_transcript uc010ffm.1 nonsynonymous SNV exon12 c.G2049C p.R683S CHIGDAFSEEANRRFERYPGQTSNQ CHIGDAFSEEANSRFERYPGQTSNQ 7.0 8.0 - - 4186_2:74760778-74760778 C>G_CHIGDAFSEEANSRFERYPGQTSNQ 0.0 4:109670467-109670467 G>A 1.0 4266 COLORECTAL - - - - ETNPPL NM_031279,p.P285L|uc011cfo.2,p.P227L|ENST00000411864,p.P279L|ENST00000296486,p.P285L|ENST00000510706,p.P245L|uc010imc.3,p.P279L|uc011cfm.2,p.P245L|uc011cfn.2,p.P212L|NM_001146590,p.P279L|uc003hzc.3,p.P285L|ENST00000512646,p.P227L|NM_001146627,p.P227L retained_intron, protein_coding, nonsense_mediated_decay uc011cfo.2 nonsynonymous SNV exon7 c.C680T p.P227L IVTMGKPMGNGHPVACVVTTKEIAE IVTMGKPMGNGHLVACVVTTKEIAE 2.0 5.0 - - 4266_4:109670467-109670467 G>A_IVTMGKPMGNGHLVACVVTTKEIAE 0.0 11:46914534-46914534 G>A 1.0 2369 MELANOMA - - - - LRP4 NM_002334,p.P563S|uc001ndn.4,p.P563S|ENST00000378623,p.P563S retained_intron, protein_coding uc001ndn.4 nonsynonymous SNV exon13 c.C1687T p.P563S QNLEKPRAIALHPMEGTIYWTDWGN QNLEKPRAIALHSMEGTIYWTDWGN 7.0 3.0 - - 2369_11:46914534-46914534 G>A_QNLEKPRAIALHSMEGTIYWTDWGN 0.0 3:52802401-52802401 C>G 1.0 4134 NSCLC - - - - NEK4 ENST00000233027,p.E105Q|uc003dfr.3,p.E105Q|uc003dfq.4,p.E105Q|ENST00000383721,p.E105Q|NM_003157,p.E105Q retained_intron, protein_coding, nonsense_mediated_decay uc003dfr.3 nonsynonymous SNV exon2 c.G313C p.E105Q RKLKEQKGQLLPENQVVEWFVQIAM RKLKEQKGQLLPQNQVVEWFVQIAM 6.0 10.0 - - 4134_3:52802401-52802401 C>G_RKLKEQKGQLLPQNQVVEWFVQIAM 0.0 1:32842145-32842145 G>A 1.0 3466 MELANOMA - - - - BSDC1 uc001bvj.3,p.P188S|NM_001300958,p.P309S|NM_001143889,p.P236S|ENST00000526031,p.P197S|ENST00000444377,p.P292S|uc010ohg.2,p.P309S|ENST00000446293,p.P309S|ENST00000419121,p.P236S|uc001bvh.4,p.P292S|ENST00000413080,p.P231S|ENST00000341071,p.P309S|NM_001143890,p.P197S|uc010ohh.2,p.P236S|NM_018045,p.P292S|ENST00000455895,p.P292S|uc010ohi.2,p.P197S|ENST00000449308,p.P292S|uc001bvi.3,p.P309S|NM_001143888,p.P309S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ohi.2 nonsynonymous SNV exon7 c.C589T p.P197S SESISLVTQIANPATAPEARVLPKD SESISLVTQIANSATAPEARVLPKD 9.0 3.0 - - 3466_1:32842145-32842145 G>A_SESISLVTQIANSATAPEARVLPKD 0.0 7:99654690-99654690 G>A 1.0 4252 COLORECTAL - - - - ZSCAN21 NM_145914,p.V21M|uc003usn.1,p.V20M|ENST00000292450,p.V21M|ENST00000543588,p.V21M|uc011kje.1,p.V20M|ENST00000438937,p.V21M|uc003uso.3,p.V21M|ENST00000456748,p.V21M protein_coding, processed_transcript uc011kje.1 nonsynonymous SNV exon3 c.G58A p.V20M APVLGPRPPQEQVGPLMVKVEEKEE APVLGPRPPQEQMGPLMVKVEEKEE 7.0 9.0 - - 4252_7:99654690-99654690 G>A_APVLGPRPPQEQMGPLMVKVEEKEE 0.0 5:140589779-140589779 G>A 1.0 4078 GASTRIC - - - - PCDHB12 ENST00000541609,p.E97K|uc003liz.3,p.E434K|uc011dak.2,p.E97K|ENST00000239450,p.E434K|NM_018932,p.E434K protein_coding uc011dak.2 nonsynonymous SNV exon2 c.G289A p.E97K TVTDLGTPRLKTEHNITVLVSDVND TVTDLGTPRLKTKHNITVLVSDVND 3.0 4.0 - - 4078_5:140589779-140589779 G>A_TVTDLGTPRLKTKHNITVLVSDVND 0.0 9:35403193-35403193 G>C 1.0 4126 NSCLC - - - - UNC13B ENST00000378496,p.V1442L|ENST00000396787,p.V1454L|uc003zwr.3,p.V1442L protein_coding, processed_transcript uc003zwr.3 nonsynonymous SNV exon38 c.G4324C p.V1442L EKGSGVDDPVGEVSIQVDLFTHPGT EKGSGVDDPVGELSIQVDLFTHPGT 5.0 10.0 - - 4126_9:35403193-35403193 G>C_EKGSGVDDPVGELSIQVDLFTHPGT 0.0 19:58926993-58926993 C>G 0.0 4335 COLORECTAL - - - - ZNF584 uc002qsp.3,p.A91G|ENST00000306910,p.A91G|ENST00000593920,p.A46G|NM_173548,p.A91G retained_intron, protein_coding, processed_transcript uc002qsp.3 nonsynonymous SNV exon3 c.C272G p.A91G SWVDVTPVSRAEARRGFGLDGLCRV SWVDVTPVSRAEGRRGFGLDGLCRV 5.0 4.0 - - 4335_19:58926993-58926993 C>G_SWVDVTPVSRAEGRRGFGLDGLCRV 0.0 1:151288233-151288233 G>A 1.0 3466 MELANOMA - - - - PI4KB uc001exu.3,p.S242L|ENST00000368874,p.S242L|NM_001198773,p.S242L|NM_001198774,p.S242L|ENST00000368873,p.S242L|uc001exs.3,p.S242L|ENST00000368872,p.S242L|ENST00000271657,p.S254L|ENST00000368875,p.S254L|uc001exr.3,p.S254L|NM_002651,p.S254L|uc001ext.3,p.S242L|ENST00000438243,p.S242L retained_intron, protein_coding uc001exu.3 nonsynonymous SNV exon2 c.C725T p.S242L HSRGTKLRKLILSDELKPAHRKREL HSRGTKLRKLILLDELKPAHRKREL 10.0 2.0 - - 3466_1:151288233-151288233 G>A_HSRGTKLRKLILLDELKPAHRKREL 0.0 2:43814072-43814072 T>G 0.0 4238 COLORECTAL - - - - THADA uc002rtb.2,p.E124D|ENST00000474159,p.E124D|ENST00000405975,p.E124D|ENST00000402360,p.E124D|uc002rtc.4,p.E124D|ENST00000404790,p.E124D|NM_001271643,p.E124D|uc002rsw.4,p.E124D|NM_001083953,p.E124D|uc002rtd.3,p.E124D|NM_022065,p.E124D|ENST00000405006,p.E124D|ENST00000398653,p.E124D|NM_001271644,p.E124D|uc002rsx.4,p.E124D|ENST00000403856,p.E124D|ENST00000408045,p.E124D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002rtd.3 nonsynonymous SNV exon6 c.A372C p.E124D PEAMHRFTSRLQEELNTTDLYSYRK PEAMHRFTSRLQDELNTTDLYSYRK 9.0 1.0 - - 4238_2:43814072-43814072 T>G_PEAMHRFTSRLQDELNTTDLYSYRK 0.0 4:142053787-142053787 G>A 0.0 4258 ENDOMETRIAL - - - - RNF150 uc003iio.1,p.A59V|ENST00000306799,p.A59V|uc010iok.1,p.A59V|ENST00000507500,p.A59V|NM_020724,p.A59V|ENST00000515673,p.A59V|uc003iip.1,p.A59V protein_coding, processed_transcript uc010iok.1 nonsynonymous SNV exon1 c.C176T p.A59V TYAEPAPDPGAGAAGGGGAELHTEK TYAEPAPDPGAGVAGGGGAELHTEK 6.0 3.0 - - 4258_4:142053787-142053787 G>A_TYAEPAPDPGAGVAGGGGAELHTEK 0.0 X:44918698-44918698 T>G 1.0 4177 PANCREATIC - - - 1 KDM6A uc022bvj.1,p.I394S|uc011mla.2,p.I394S|uc022bvi.1,p.I143S|NM_001291417,p.I394S|NM_001291418,p.I394S|ENST00000536777,p.I394S|uc011mlc.2,p.I143S|NM_001291421,p.I143S|ENST00000543216,p.I394S protein_coding, processed_transcript uc022bvj.1 nonsynonymous SNV exon12 c.T1181G p.I394S KSCSNTSALAARIKYLQNTSDNWSG KSCSNTSALAARSKYLQNTSDNWSG 7.0 10.0 - - 4177_X:44918698-44918698 T>G_KSCSNTSALAARSKYLQNTSDNWSG 0.0 20:62122077-62122077 C>T 1.0 3919 MELANOMA - - - - EEF1A2 NM_001958,p.V262M|uc002yfe.2,p.V262M|ENST00000298049,p.V262M|ENST00000217182,p.V262M protein_coding uc002yfe.2 nonsynonymous SNV exon6 c.G784A p.V262M LQDVYKIGGIGTVPVGRVETGILRP LQDVYKIGGIGTMPVGRVETGILRP 1.0 6.0 - - 3919_20:62122077-62122077 C>T_LQDVYKIGGIGTMPVGRVETGILRP 0.0 13:77570260-77570260 C>T 1.0 3713 MELANOMA - - - - CLN5 uc001vkc.3,p.S237L|ENST00000377453,p.S237L|NM_006493,p.S237L protein_coding, processed_transcript uc001vkc.3 nonsynonymous SNV exon3 c.C710T p.S237L KENGTLVQVATISGNMFNQMAKWVK KENGTLVQVATILGNMFNQMAKWVK 8.0 8.0 - - 3713_13:77570260-77570260 C>T_KENGTLVQVATILGNMFNQMAKWVK 0.0 6:73843311-73843311 G>A 0.0 4287 COLORECTAL - - - - KCNQ5 NM_001160132,p.R482H|uc011dyi.2,p.R482H|NM_001160130,p.R463H|ENST00000355635,p.R473H|ENST00000403813,p.R463H|ENST00000370398,p.R472H|uc011dyh.2,p.R491H|ENST00000355194,p.R472H|ENST00000342056,p.R491H|NM_019842,p.R472H|uc010kat.3,p.R463H|uc011dyk.2,p.R222H|ENST00000402622,p.R482H|NM_001160133,p.R491H|uc003pgk.3,p.R472H protein_coding uc011dyk.2 nonsynonymous SNV exon8 c.G665A p.R222H KVQKSWSFNDRTRFRPSLRLKSSQP KVQKSWSFNDRTHFRPSLRLKSSQP 3.0 10.0 - - 4287_6:73843311-73843311 G>A_KVQKSWSFNDRTHFRPSLRLKSSQP 0.0 X:72434217-72434217 C>T 0.0 4240 BREAST - - - - NAP1L2 uc004ebi.3,p.A38T|ENST00000373517,p.A38T|NM_021963,p.A38T protein_coding uc004ebi.3 nonsynonymous SNV exon1 c.G112A p.A38T GLGEHLERGEDAAAGLGDDGKCGEE GLGEHLERGEDATAGLGDDGKCGEE 3.0 10.0 - - 4240_X:72434217-72434217 C>T_GLGEHLERGEDATAGLGDDGKCGEE 0.0 22:24108324-24108324 A>G 1.0 4180 BREAST - - - - CHCHD10 uc002zxw.3,p.Y134H|NM_001301339,p.Y141H|ENST00000484558,p.Y134H|ENST00000401675,p.Y141H|NM_213720,p.Y134H retained_intron, protein_coding, nonsense_mediated_decay uc002zxw.3 nonsynonymous SNV exon3 c.T400C p.Y134H CEGFSEALKQCKYYHGLSSLP CEGFSEALKQCKHYHGLSSLP 10.0 3.0 - - 4180_22:24108324-24108324 A>G_CEGFSEALKQCKHYHGLSSLP 0.0 16:68901008-68901008 G>C 1.0 4317 COLORECTAL - - - - TANGO6 uc002ewh.3,p.M293I|ENST00000261778,p.M293I|NM_024562,p.M293I|uc002ewi.4,p.M293I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002ewi.4 nonsynonymous SNV exon4 c.G879C p.M293I GPPQSCTDVKTQMRCRAPAWLRRLC GPPQSCTDVKTQIRCRAPAWLRRLC 7.0 8.0 - - 4317_16:68901008-68901008 G>C_GPPQSCTDVKTQIRCRAPAWLRRLC 0.0 1:46978026-46978026 T>C 0.0 4301 MELANOMA - - - - DMBX1 NM_147192,p.S337P|ENST00000371956,p.S337P|ENST00000360032,p.S332P|uc001cpx.3,p.S337P|uc001cpw.3,p.S332P|NM_172225,p.S332P protein_coding uc001cpx.3 nonsynonymous SNV exon4 c.T1009C p.S337P SAAAAAHQGVWGSPLLPAPPAGLAP SAAAAAHQGVWGPPLLPAPPAGLAP 1.0 3.0 - - 4301_1:46978026-46978026 T>C_SAAAAAHQGVWGPPLLPAPPAGLAP 0.0 9:118949838-118949838 C>A 0.0 3919 MELANOMA - - - - PAPPA uc011lxq.2,p.T67N|ENST00000328252,p.T274N|uc004bjn.3,p.T274N|uc011lxp.1,p.T67N|NM_002581,p.T274N protein_coding, processed_transcript uc011lxq.2 nonsynonymous SNV exon1 c.C200A p.T67N ARTQREILSDMETHGAHTALPQLLL ARTQREILSDMENHGAHTALPQLLL 4.0 10.0 - - 3919_9:118949838-118949838 C>A_ARTQREILSDMENHGAHTALPQLLL 0.0 1:227834345-227834345 A>G 1.0 4335 COLORECTAL - - - - ZNF678 ENST00000440339,p.E75G|NM_178549,p.E75G|ENST00000397097,p.E75G|uc021pjy.1,p.E75G protein_coding, processed_transcript uc021pjy.1 nonsynonymous SNV exon3 c.A224G p.E75G PAQRNLYRDVMFENYRNLVSLAILS PAQRNLYRDVMFGNYRNLVSLAILS 10.0 2.0 - - 4335_1:227834345-227834345 A>G_PAQRNLYRDVMFGNYRNLVSLAILS 0.0 5:140720480-140720480 G>A 1.0 3713 MELANOMA - - - - PCDHGA2 uc011dao.2,p.D648N|NM_018915,p.D648N|NM_032009,p.D648N|uc003ljk.2,p.D648N|ENST00000394576,p.D648N retained_intron, protein_coding uc011dao.2 nonsynonymous SNV exon1 c.G1942A p.D648N DALKQSLVVAIQDHGQPPLSATVTL DALKQSLVVAIQNHGQPPLSATVTL 3.0 8.0 - - 3713_5:140720480-140720480 G>A_DALKQSLVVAIQNHGQPPLSATVTL 0.0 2:238277697-238277697 G>T 0.0 4287 COLORECTAL - - - - COL6A3 NM_057167,p.P1264H|uc002vwl.2,p.P1470H|ENST00000353578,p.P1264H|ENST00000295550,p.P1470H|NM_057166,p.P863H|ENST00000346358,p.P1270H|ENST00000472056,p.P863H|ENST00000347401,p.P1269H|NM_004369,p.P1470H|uc010znj.1,p.P863H|uc002vwo.2,p.P1264H|ENST00000409809,p.P1264H retained_intron, protein_coding, processed_transcript uc010znj.1 nonsynonymous SNV exon7 c.C2588A p.P863H FVSRIVRRLNIGPSKVRVGVVQFSN FVSRIVRRLNIGHSKVRVGVVQFSN 9.0 8.0 - - 4287_2:238277697-238277697 G>T_FVSRIVRRLNIGHSKVRVGVVQFSN 0.0 17:37340361-37340361 G>A 1.0 3919 MELANOMA - - - - CACNB1 uc002hrn.3,p.S274F|uc002hro.3,p.S319F|ENST00000394310,p.S274F|ENST00000344140,p.S319F|uc002hrl.1,p.S46F|NM_199247,p.S319F|uc002hrm.2,p.S274F|NM_199248,p.S274F|ENST00000394303,p.S274F|NM_000723,p.S274F retained_intron, protein_coding, processed_transcript uc002hro.3 nonsynonymous SNV exon10 c.C956T p.S319F GRISITRVTADISLAKRSVLNNPSK GRISITRVTADIFLAKRSVLNNPSK 4.0 9.0 - - 3919_17:37340361-37340361 G>A_GRISITRVTADIFLAKRSVLNNPSK 0.0 10:131666141-131666141 C>T 0.0 3795 MELANOMA - - ID=COSM1250898,COSM1250897;OCCURENCE=1(oesophagus) - EBF3 uc021qav.2,p.G264S|uc001lki.2,p.G264S|NM_001005463,p.G264S|ENST00000368648,p.G264S|ENST00000355311,p.G273S protein_coding, processed_transcript uc021qav.2 nonsynonymous SNV exon9 c.G790A p.G264S ATPCIKAISPSEGWTTGGATVIIIG ATPCIKAISPSESWTTGGATVIIIG 3.0 9.0 - - 3795_10:131666141-131666141 C>T_ATPCIKAISPSESWTTGGATVIIIG 0.0 10:7708773-7708773 G>A 0.0 4196 COLORECTAL - - - - ITIH5 uc001ijr.2,p.S28L|uc021pmv.1,p.S28L|ENST00000256861,p.S28L|ENST00000397146,p.S28L|NM_001001851,p.S28L|ENST00000397145,p.S28L|NM_030569,p.S28L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021pmv.1 nonsynonymous SNV exon1 c.C83T p.S28L GSQEEAQSWGHSSEQDGLRVPRQVR GSQEEAQSWGHSLEQDGLRVPRQVR 6.0 8.0 - - 4196_10:7708773-7708773 G>A_GSQEEAQSWGHSLEQDGLRVPRQVR 0.0 21:17220076-17220076 ->G 0.0 4320 COLORECTAL - - - - USP25 ENST00000400183,p.E811fs|uc011aby.1,p.E811fs|NM_001283041,p.E811fs retained_intron, protein_coding, processed_transcript uc011aby.1 frameshift insertion exon19 c.2433dupG p.E811fs IPHVGKFMIESKEGGYDDEIMMTPN IPHVGKFMIESKEGGV 8.0 3.0 - - 4320_21:17220076-17220076 ->G_IPHVGKFMIESKEGGV 0.0 5:176468821-176468821 C>T 1.0 3784 MELANOMA - - - - ZNF346 ENST00000511834,p.H108Y|uc003mfi.3,p.H108Y|ENST00000503039,p.H133Y|uc003mfk.1,p.H133Y|NM_012279,p.H108Y|ENST00000513587,p.H108Y|ENST00000508155,p.H108Y|ENST00000261948,p.H133Y|ENST00000358149,p.H108Y retained_intron, protein_coding, nonsense_mediated_decay uc003mfk.1 nonsynonymous SNV exon4 c.C397T p.H133Y KHANKVKRYLAIHGMETLKGETKKL KHANKVKRYLAIYGMETLKGETKKL 6.0 5.0 - - 3784_5:176468821-176468821 C>T_KHANKVKRYLAIYGMETLKGETKKL 0.0 17:77768943-77768943 C>A 0.0 4189 MELANOMA - - - - CBX8 ENST00000413392,p.G211C|uc002jxd.2,p.G221C|ENST00000269385,p.G221C|NM_020649,p.G221C protein_coding, processed_transcript uc002jxd.2 nonsynonymous SNV exon5 c.G661T p.G221C DPSQRPLGEPSAGLGEYLKGRKLDD DPSQRPLGEPSACLGEYLKGRKLDD 4.0 8.0 - - 4189_17:77768943-77768943 C>A_DPSQRPLGEPSACLGEYLKGRKLDD 0.0 19:39663943-39663943 C>T 1.0 4275 COLORECTAL - - - - PAK4 ENST00000435673,p.A197V|ENST00000360442,p.A197V|NM_001014832,p.A197V|ENST00000358301,p.A197V|uc002okl.1,p.A197V|ENST00000593690,p.A197V|uc002okj.1,p.A197V|uc002okn.1,p.A197V|NM_001014831,p.A197V|NM_005884,p.A197V retained_intron, protein_coding, processed_transcript uc002okn.1 nonsynonymous SNV exon3 c.C590T p.A197V VGTPQPAGLASGAKLAAGRPFNTYP VGTPQPAGLASGVKLAAGRPFNTYP 9.0 8.0 - - 4275_19:39663943-39663943 C>T_VGTPQPAGLASGVKLAAGRPFNTYP 0.0 15:85632647-85632647 G>T 0.0 4134 NSCLC - - - - PDE8A ENST00000339708,p.Q238H|NM_173454,p.Q238H|uc002bli.3,p.Q238H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002bli.3 nonsynonymous SNV exon7 c.G714T p.Q238H DAIEITSEDRFIQEWQGIYYAKKKN DAIEITSEDRFIHEWQGIYYAKKKN 6.0 6.0 - - 4134_15:85632647-85632647 G>T_DAIEITSEDRFIHEWQGIYYAKKKN 0.0 15:65223062-65223062 A>G 1.0 3903 MELANOMA - - - - ANKDD1A ENST00000487867,p.M114V|ENST00000496660,p.M114V|ENST00000483400,p.M66V|uc002aoa.3,p.M205V|ENST00000395723,p.M114V|NM_182703,p.M205V|ENST00000395720,p.M205V|ENST00000380230,p.M205V|uc010bha.3,p.M114V|uc002any.3,p.M114V|ENST00000357698,p.M205V|uc002anz.3,p.M114V|uc002anx.1,p.M201V|uc002aob.3,p.M70V|ENST00000437723,p.M209V processed_transcript,retained_intron, nonsense_mediated_decay, protein_coding uc010bha.3 nonsynonymous SNV exon4 c.A340G p.M114V NTALHLAAGRGHMAVLQRLVDIGLD NTALHLAAGRGHVAVLQRLVDIGLD 6.0 3.0 - - 3903_15:65223062-65223062 A>G_NTALHLAAGRGHVAVLQRLVDIGLD 0.0 17:70120093-70120093 ->CC 1.0 4278 COLORECTAL - - - - SOX9 ENST00000245479,p.A365fs|NM_000346,p.A365fs|uc002jiw.3,p.A365fs protein_coding uc002jiw.3 frameshift insertion exon3 c.1095_1096insCC p.A365fs PPAPQAPPQPQAAPPQQPAAPPQQP PPAPQAPPQPQAAPPHSSRRHPRSSHRRTR 10.0 4.0 - - 4278_17:70120093-70120093 ->CC_PPAPQAPPQPQAAPPHSSRRHPRSSHRRTR 0.0 18:34320697-34320697 C>G 0.0 4326 BREAST - - - - FHOD3 uc002kzt.1,p.L1027V|NM_001281740,p.L1219V|uc021uiv.1,p.L1219V|uc010dmz.1,p.L759V|uc010dnb.1,p.L23V|NM_025135,p.L1044V|NM_001281739,p.L1027V|ENST00000590592,p.L1219V|ENST00000445677,p.L1006V|ENST00000257209,p.L1044V|ENST00000591635,p.L240V|uc002kzs.1,p.L1044V|ENST00000359247,p.L1027V|ENST00000592128,p.L23V retained_intron, protein_coding, processed_transcript uc021uiv.1 nonsynonymous SNV exon21 c.C3655G p.L1219V IQEAQLANPEIPLGSAEQFLLTLSS IQEAQLANPEIPVGSAEQFLLTLSS 5.0 3.0 - - 4326_18:34320697-34320697 C>G_IQEAQLANPEIPVGSAEQFLLTLSS 0.0 1:196695714-196695714 T>A 1.0 3879 MELANOMA - - - - CFH NM_000186,p.F663Y|uc001gtj.4,p.F663Y|ENST00000367429,p.F663Y retained_intron, protein_coding, ambiguous_orf uc001gtj.4 nonsynonymous SNV exon13 c.T1988A p.F663Y HSEVVEYYCNPRFLMKGPNKIQCVD HSEVVEYYCNPRYLMKGPNKIQCVD 6.0 1.0 - - 3879_1:196695714-196695714 T>A_HSEVVEYYCNPRYLMKGPNKIQCVD 0.0 14:73137975-73137975 C>T 0.0 4346 COLORECTAL - - - - DPF3 uc010ari.1,p.G315S|NM_012074,p.G315S|ENST00000381216,p.G315S|ENST00000366353,p.G370S|NM_001280543,p.G325S|ENST00000541685,p.G315S|uc010ttq.1,p.G325S|ENST00000546183,p.G325S|NM_001280544,p.G370S protein_coding, processed_transcript, nonsense_mediated_decay uc010ttq.1 nonsynonymous SNV exon10 c.G973A p.G325S AAAAARTTEDLFGSTSESDTSTFHG AAAAARTTEDLFSSTSESDTSTFHG 2.0 5.0 - - 4346_14:73137975-73137975 C>T_AAAAARTTEDLFSSTSESDTSTFHG 0.0 11:12263852-12263852 G>A 1.0 3713 MELANOMA - - - - MICAL2 NM_001282664,p.R810K|uc001mjz.3,p.R810K|NM_001282663,p.R810K|ENST00000342902,p.R810K|ENST00000256194,p.R810K|NM_014632,p.R810K|uc001mka.3,p.R810K|uc010rci.2,p.R810K retained_intron, protein_coding, processed_transcript uc010rci.2 nonsynonymous SNV exon18 c.G2429A p.R810K AGSECLSRPWRARAKSDLQLGGTEN AGSECLSRPWRAKAKSDLQLGGTEN 7.0 10.0 - - 3713_11:12263852-12263852 G>A_AGSECLSRPWRAKAKSDLQLGGTEN 0.0 1:40236311-40236311 T>G 0.0 4046 OVARIAN - - - - OXCT2 uc001ceb.1,p.D206A|ENST00000327582,p.D206A|NM_022120,p.D206A protein_coding uc001ceb.1 nonsynonymous SNV exon1 c.A617C p.D206A GDHFLLERAIRADFALVKGWKADRA GDHFLLERAIRAAFALVKGWKADRA 3.0 2.0 - - 4046_1:40236311-40236311 T>G_GDHFLLERAIRAAFALVKGWKADRA 0.0 20:33440256-33440256 C>T 1.0 4046 OVARIAN - - - - GGT7 uc002xay.3,p.G469R|NM_178026,p.G469R|ENST00000336431,p.G469R|uc002xaz.1,p.G486R protein_coding, processed_transcript uc002xaz.1 nonsynonymous SNV exon12 c.G1456A p.G486R APAPLLPVYELDGAPTAAQVLIMGP APAPLLPVYELDRAPTAAQVLIMGP 7.0 4.0 - - 4046_20:33440256-33440256 C>T_APAPLLPVYELDRAPTAAQVLIMGP 0.0 3:130174393-130174393 G>A 0.0 3903 MELANOMA - - - - COL6A5 uc021xdz.1,p.E264K|NM_001278298,p.E2225K|NM_153264,p.E2225K|ENST00000312481,p.E2225K|ENST00000512482,p.E60K|ENST00000432398,p.E2225K|ENST00000265379,p.E2225K|uc010htk.2,p.E2225K|uc010htj.2,p.E2225K|ENST00000373157,p.E168K protein_coding, nonsense_mediated_decay uc021xdz.1 nonsynonymous SNV exon3 c.G790A p.E264K LNSGRESPFVKTEDNGSDYLVYLPS LNSGRESPFVKTKDNGSDYLVYLPS 1.0 5.0 - - 3903_3:130174393-130174393 G>A_LNSGRESPFVKTKDNGSDYLVYLPS 0.0 1:144880859-144880859 C>T 1.0 3919 MELANOMA - - - 1 PDE4DIP NM_001198834,p.G1257S|NM_001198832,p.G1213S|uc001elx.4,p.G1213S|uc021ouh.1,p.G1257S|NM_014644,p.G1257S|uc001elv.4,p.G264S|uc001elw.4,p.G1257S - uc021ouh.1 nonsynonymous SNV exon26 c.G3769A p.G1257S ANELEKYRVMLTGESLVKQDSKQIQ ANELEKYRVMLTSESLVKQDSKQIQ 1.0 4.0 - - 3919_1:144880859-144880859 C>T_ANELEKYRVMLTSESLVKQDSKQIQ 0.0 3:178968705-178968705 G>A 1.0 3775 CERVICAL - - - - KCNMB3 uc003fjn.3,p.S25L|ENST00000392685,p.S25L|NM_171830,p.S25L protein_coding, processed_transcript, nonsense_mediated_decay uc003fjn.3 nonsynonymous SNV exon1 c.C74T p.S25L PSPFPQRTAFPASGKKRETDYSDGD PSPFPQRTAFPALGKKRETDYSDGD 6.0 10.0 - - 3775_3:178968705-178968705 G>A_PSPFPQRTAFPALGKKRETDYSDGD 0.0 1:157805671-157805671 T>G 0.0 4196 COLORECTAL - - - - CD5L ENST00000368174,p.E110D|NM_005894,p.E110D|uc001frk.4,p.E110D protein_coding, processed_transcript uc001frk.4 nonsynonymous SNV exon3 c.A330C p.E110D GTEDTLAQCEQEEVYDCSHDEDAGA GTEDTLAQCEQEDVYDCSHDEDAGA 4.0 3.0 - - 4196_1:157805671-157805671 T>G_GTEDTLAQCEQEDVYDCSHDEDAGA 0.0 16:26147274-26147274 G>A 0.0 4129 NSCLC - - - - HS3ST4 uc002dof.3,p.R359Q|NM_006040,p.R359Q|ENST00000331351,p.R359Q protein_coding, processed_transcript uc002dof.3 nonsynonymous SNV exon2 c.G1076A p.R359Q FPLSQILFVSGERLIVDPAGEMAKV FPLSQILFVSGEQLIVDPAGEMAKV 1.0 7.0 - - 4129_16:26147274-26147274 G>A_FPLSQILFVSGEQLIVDPAGEMAKV 0.0 X:83128851-83128851 G>A 0.0 2591 MELANOMA - - ID=COSM3364115,COSM3364116;OCCURENCE=1(kidney) - CYLC1 NM_021118,p.D379N|ENST00000329312,p.D379N|uc004eeh.2,p.D378N|uc004eei.2,p.D379N protein_coding uc004eei.2 nonsynonymous SNV exon4 c.G1135A p.D379N PESTDTESGDAKDARNDSRNLKKAS PESTDTESGDAKNARNDSRNLKKAS 1.0 10.0 - - 2591_X:83128851-83128851 G>A_PESTDTESGDAKNARNDSRNLKKAS 0.0 1:43896743-43896743 C>T 1.0 3784 MELANOMA 0.0014 - - - SZT2 ENST00000372442,p.S734L|ENST00000562955,p.S1576L|NM_015284,p.S1576L|uc001cjk.3,p.S1576L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001cjk.3 nonsynonymous SNV exon32 c.C4727T p.S1576L LTLPLEVELPTASDPQHHRSTSESS LTLPLEVELPTALDPQHHRSTSESS 7.0 5.0 - - 3784_1:43896743-43896743 C>T_LTLPLEVELPTALDPQHHRSTSESS 0.0 20:44669244-44669244 C>T 0.0 3903 MELANOMA - - - - SLC12A5 uc002xrb.2,p.P282L|uc010zxl.1,p.P305L|ENST00000243964,p.P282L|NM_001134771,p.P305L|NM_020708,p.P282L|ENST00000454036,p.P305L protein_coding uc010zxl.1 nonsynonymous SNV exon7 c.C914T p.P305L IYAGVIKSAFDPPNFPICLLGNRTL IYAGVIKSAFDPLNFPICLLGNRTL 1.0 5.0 - - 3903_20:44669244-44669244 C>T_IYAGVIKSAFDPLNFPICLLGNRTL 0.0 17:58022867-58022867 G>A 0.0 4298 COLORECTAL - - - - RPS6KB1 ENST00000406116,p.R443Q|uc010ddj.3,p.R443Q|NM_001272043,p.R443Q retained_intron, nonsense_mediated_decay, processed_transcript, protein_coding uc010ddj.3 nonsynonymous SNV exon14 c.G1328A p.R443Q KIRSPRRFIGSPRTPVSTAMC KIRSPRRFIGSPQTPVSTAMC 9.0 1.0 - - 4298_17:58022867-58022867 G>A_KIRSPRRFIGSPQTPVSTAMC 0.0 5:13919340-13919340 G>A 1.0 4259 COLORECTAL - - - - DNAH5 uc003jfd.2,p.P307L|NM_001369,p.P307L|ENST00000265104,p.P307L retained_intron, protein_coding, processed_transcript uc003jfd.2 nonsynonymous SNV exon7 c.C920T p.P307L SKFNYLLEQLKSPDVKAVLAVLAAA SKFNYLLEQLKSLDVKAVLAVLAAA 4.0 3.0 - - 4259_5:13919340-13919340 G>A_SKFNYLLEQLKSLDVKAVLAVLAAA 0.0 1:211093127-211093127 C>G 0.0 4346 COLORECTAL - - - - KCNH1 uc001hib.2,p.K439N|uc001hic.2,p.K412N|ENST00000271751,p.K439N|NM_172362,p.K439N|NM_002238,p.K412N|ENST00000367007,p.K412N protein_coding uc001hic.2 nonsynonymous SNV exon7 c.G1236C p.K412N GTPYQFNGSGSGKWEGGPSKNSVYI GTPYQFNGSGSGNWEGGPSKNSVYI 2.0 8.0 - - 4346_1:211093127-211093127 C>G_GTPYQFNGSGSGNWEGGPSKNSVYI 0.0 3:53694272-53694272 C>G 0.0 4046 OVARIAN - - - 1 CACNA1D NM_000720,p.R246G|NM_001128840,p.R246G|ENST00000288139,p.R246G|ENST00000422281,p.R246G|NM_001128839,p.R246G|uc003dgu.5,p.R246G|uc003dgy.5,p.R246G|ENST00000350061,p.R246G|uc003dgv.5,p.R246G retained_intron, protein_coding, processed_transcript uc003dgy.5 nonsynonymous SNV exon5 c.C736G p.R246G FDVKALRAFRVLRPLRLVSGVPSLQ FDVKALRAFRVLGPLRLVSGVPSLQ 5.0 9.0 - - 4046_3:53694272-53694272 C>G_FDVKALRAFRVLGPLRLVSGVPSLQ 0.0 3:12872988-12872988 C>T 0.0 4281 COLORECTAL - - ID=COSM3059879,COSM3059877,COSM3059878;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) - CAND2 uc003bxk.2,p.R1134W|ENST00000295989,p.R1017W|uc003bxj.2,p.R1017W|ENST00000456430,p.R1134W|NM_001162499,p.R1134W|NM_012298,p.R1017W|ENST00000454887,p.R62W protein_coding, processed_transcript, nonsense_mediated_decay uc003bxk.2 nonsynonymous SNV exon14 c.C3400T p.R1134W YDIRMLTFIMVARLATLCPAPVLQR YDIRMLTFIMVAWLATLCPAPVLQR 2.0 10.0 - - 4281_3:12872988-12872988 C>T_YDIRMLTFIMVAWLATLCPAPVLQR 0.0 8:144994112-144994112 C>T 1.0 2369 MELANOMA - - - - PLEC uc003zag.1,p.E3271K|ENST00000354589,p.E3293K|NM_201383,p.E3297K|ENST00000356346,p.E3279K|uc003zab.1,p.E3293K|uc003zac.1,p.E3297K|ENST00000354958,p.E3271K|NM_201384,p.E3293K|NM_201380,p.E3430K|uc003zad.2,p.E3293K|NM_201379,p.E3271K|ENST00000345136,p.E3293K|uc003zae.1,p.E3261K|uc003zaj.2,p.E3320K|uc003zah.2,p.E3279K|NM_201382,p.E3293K|uc003zaf.1,p.E3430K|NM_201381,p.E3261K|ENST00000436759,p.E3320K|ENST00000527096,p.E3316K|ENST00000398774,p.E3261K|ENST00000322810,p.E3430K|NM_201378,p.E3279K|NM_000445,p.E3320K|ENST00000357649,p.E3297K retained_intron, protein_coding uc003zaj.2 nonsynonymous SNV exon33 c.G9958A p.E3320K VEKVIKILITIVEEVETLRQERLSF VEKVIKILITIVKEVETLRQERLSF 8.0 6.0 - - 2369_8:144994112-144994112 C>T_VEKVIKILITIVKEVETLRQERLSF 0.0 19:39380533-39380533 G>A 1.0 4000 MELANOMA - - - - SIRT2 ENST00000392081,p.P76S|NM_012237,p.P113S|uc010egi.2,p.P76S|uc002ojv.2,p.P111S|ENST00000381766,p.P76S|ENST00000414941,p.P76S|uc002ojs.2,p.P93S|ENST00000249396,p.P113S|NM_030593,p.P76S|uc002ojt.2,p.P113S|ENST00000407552,p.P76S|NM_001193286,p.P76S|ENST00000420440,p.P76S|uc010egh.2,p.P76S|uc002oju.2,p.P76S|ENST00000358931,p.P113S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010egi.2 nonsynonymous SNV exon4 c.C226T p.P76S TGLYDNLEKYHLPYPEAIFEISYFK TGLYDNLEKYHLSYPEAIFEISYFK 8.0 8.0 - - 4000_19:39380533-39380533 G>A_TGLYDNLEKYHLSYPEAIFEISYFK 0.0 2:43800098-43800098 C>A 1.0 4110 BILE DUCT - - - - THADA ENST00000402360,p.C588F|ENST00000403856,p.C588F|NM_022065,p.C588F|ENST00000405975,p.C588F|uc002rtd.3,p.C588F|NM_001083953,p.C588F|ENST00000415080,p.C298F|uc002rtc.4,p.C588F|ENST00000405006,p.C588F|ENST00000404790,p.C588F|uc002rsz.3,p.C298F|ENST00000402796,p.C171F|uc002rsx.4,p.C588F|ENST00000330266,p.C298F|uc002rta.2,p.C298F|uc002rtb.2,p.C588F|NM_001271643,p.C588F|NM_001271644,p.C588F|uc002rsw.4,p.C588F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002rtd.3 nonsynonymous SNV exon13 c.G1763T p.C588F TGQEQSFPSLGSCNSRGALGALMAC TGQEQSFPSLGSFNSRGALGALMAC 8.0 8.0 - - 4110_2:43800098-43800098 C>A_TGQEQSFPSLGSFNSRGALGALMAC 0.0 5:179296801-179296801 A>G 0.0 4317 COLORECTAL - - - - TBC1D9B uc011dgw.1,p.L96P|ENST00000519746,p.L96P|uc003mli.3,p.L920P|uc003mlj.3,p.L920P|uc003mlg.3,p.L96P|uc003mlh.3,p.L920P|ENST00000356834,p.L920P|uc011dgv.2,p.L96P|NM_015043,p.L920P|ENST00000444477,p.L78P|NM_198868,p.L920P|ENST00000355235,p.L920P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011dgw.1 nonsynonymous SNV exon3 c.T287C p.L96P MSGMYHGDLTEKLKVLYKLHLPPAL MSGMYHGDLTEKPKVLYKLHLPPAL 10.0 4.0 - - 4317_5:179296801-179296801 A>G_MSGMYHGDLTEKPKVLYKLHLPPAL 0.0 18:43420206-43420206 G>A 0.0 4110 BILE DUCT - - - - SIGLEC15 NM_213602,p.R302Q|ENST00000546268,p.R148Q|uc002lbl.1,p.R302Q|ENST00000389474,p.R302Q retained_intron, protein_coding, processed_transcript uc002lbl.1 nonsynonymous SNV exon5 c.G905A p.R302Q RPEHLDTPDTPPRSQAQESNYENLS RPEHLDTPDTPPQSQAQESNYENLS 3.0 10.0 - - 4110_18:43420206-43420206 G>A_RPEHLDTPDTPPQSQAQESNYENLS 0.0 9:113170247-113170247 C>T 1.0 3713 MELANOMA - - - - SVEP1 ENST00000374469,p.D2522N|uc010mtz.3,p.D2545N|NM_153366,p.D2545N|ENST00000297826,p.D471N|uc010mty.3,p.D471N|ENST00000401783,p.D2545N protein_coding, processed_transcript uc010mtz.3 nonsynonymous SNV exon38 c.G7633A p.D2545N PSALTCLETGDWDVDAPSCNAIHCD PSALTCLETGDWNVDAPSCNAIHCD 2.0 3.0 - - 3713_9:113170247-113170247 C>T_PSALTCLETGDWNVDAPSCNAIHCD 0.0 16:88789055-88789055 T>A 1.0 4213 COLORECTAL - - - - PIEZO1 uc010vpb.2,p.S1571C|NM_001142864,p.S1571C|ENST00000301015,p.S1571C retained_intron, protein_coding, nonsense_mediated_decay uc010vpb.2 nonsynonymous SNV exon35 c.A4711T p.S1571C EVHRGVLDQLYTSQAEATLPGPTEA EVHRGVLDQLYTCQAEATLPGPTEA 10.0 6.0 - - 4213_16:88789055-88789055 T>A_EVHRGVLDQLYTCQAEATLPGPTEA 0.0 17:72862962-72862962 G>C 0.0 4317 COLORECTAL - - - - FDXR uc002jlz.3,p.P72A|ENST00000583917,p.P73A|ENST00000544854,p.P20A|uc010wrj.3,p.P70A|uc002jly.3,p.P72A|NM_024417,p.P72A|uc010wrl.2,p.P115A|uc010wrm.2,p.P73A|ENST00000413947,p.P103A|NM_001258013,p.P103A|uc002jlx.3,p.P72A|ENST00000581530,p.P72A|ENST00000579893,p.P21A|NM_001258014,p.P72A|ENST00000455107,p.P28A|NM_001258016,p.P20A|ENST00000293195,p.P72A|ENST00000581219,p.P115A|uc010wri.2,p.P20A|NM_001258015,p.P73A|NM_004110,p.P72A|ENST00000582944,p.P72A|NM_001258012,p.P115A|ENST00000420580,p.P73A|ENST00000442102,p.P115A|uc010wrk.2,p.P103A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wrm.2 nonsynonymous SNV exon3 c.C217G p.P73A HPQAHVDIYEKQPVPFGLVRFGVAP HPQAHVDIYEKQAVPFGLVRFGVAP 7.0 3.0 - - 4317_17:72862962-72862962 G>C_HPQAHVDIYEKQAVPFGLVRFGVAP 0.0 20:2097686-2097686 G>C 0.0 4238 COLORECTAL - - - - STK35 ENST00000381482,p.A423P|NM_080836,p.A423P|ENST00000493263,p.A284P|uc002wfw.4,p.A423P|ENST00000246032,p.A290P protein_coding, nonsense_mediated_decay uc002wfw.4 nonsynonymous SNV exon3 c.G1267C p.A423P WLSSACGSDFYMAPEVWEGHYTAKA WLSSACGSDFYMPPEVWEGHYTAKA 8.0 3.0 - - 4238_20:2097686-2097686 G>C_WLSSACGSDFYMPPEVWEGHYTAKA 0.0 2:216916245-216916245 C>G 1.0 4160 COLORECTAL - - - - PECR uc002vft.3,p.G177A|NM_018441,p.G177A|ENST00000265322,p.G177A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002vft.3 nonsynonymous SNV exon5 c.G530C p.G177A FPLAVHSGAARAGVYNLTKSLALEW FPLAVHSGAARAAVYNLTKSLALEW 6.0 8.0 - - 4160_2:216916245-216916245 C>G_FPLAVHSGAARAAVYNLTKSLALEW 0.0 16:9858337-9858337 G>A 0.0 4095 COLORECTAL - - ID=COSM975079;OCCURENCE=1(endometrium) 1 GRIN2A ENST00000330684,p.R1022C|uc002czo.4,p.R1022C|NM_001134408,p.R1022C|ENST00000396575,p.R1022C|NM_000833,p.R1022C|ENST00000535259,p.R865C|uc010uyn.2,p.R865C|ENST00000396573,p.R1022C|uc010uym.2,p.R1022C|ENST00000562109,p.R1022C|ENST00000404927,p.R1022C|uc002czr.4,p.R1022C|NM_001134407,p.R1022C retained_intron, protein_coding, processed_transcript uc010uyn.2 nonsynonymous SNV exon12 c.C2593T p.R865C PRQLWKKSVDSIRQDSLSQNPVSQR PRQLWKKSVDSICQDSLSQNPVSQR 4.0 9.0 - - 4095_16:9858337-9858337 G>A_PRQLWKKSVDSICQDSLSQNPVSQR 0.0 8:42179953-42179953 G>T 1.0 2369 MELANOMA - - - 1 IKBKB NM_001190720,p.V641F|uc003xow.2,p.V643F|ENST00000520810,p.V643F|ENST00000379708,p.V420F|ENST00000416505,p.V584F|uc003xox.2,p.V364F|ENST00000520835,p.V641F|uc011lcq.2,p.V641F|uc011lcr.2,p.V584F|NM_001242778,p.V584F|NM_001556,p.V643F|uc010lxj.2,p.V420F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011lcr.2 nonsynonymous SNV exon18 c.G1750T p.V584F EVVSLMNEDEKTVVRLQEKRQKELW EVVSLMNEDEKTFVRLQEKRQKELW 8.0 6.0 - - 2369_8:42179953-42179953 G>T_EVVSLMNEDEKTFVRLQEKRQKELW 0.0 11:32874877-32874877 C>A 1.0 4326 BREAST - - - - PRRG4 NM_024081,p.P162H|ENST00000257836,p.P162H|uc001mtx.3,p.P162H protein_coding uc001mtx.3 nonsynonymous SNV exon6 c.C485A p.P162H CSSAVYERGRHTPSIIFRRPEEAAL CSSAVYERGRHTHSIIFRRPEEAAL 5.0 6.0 - - 4326_11:32874877-32874877 C>A_CSSAVYERGRHTHSIIFRRPEEAAL 0.0 8:48866460-48866460 ->GCA 0.0 4126 NSCLC - - - - PRKDC uc003xqj.3,p.E176delinsDA|uc003xqi.3,p.E176delinsDA|ENST00000314191,p.E176delinsDA|ENST00000338368,p.E176delinsDA retained_intron, protein_coding, processed_transcript uc003xqj.3 nonframeshift insertion exon6 c.527_528insTGC p.E176delinsDA KKIPDTVLEKVYELLGLLGEVHPSE KKIPDTVLEKVYDALLGLLGEVHPS 9.0 5.0 - - 4126_8:48866460-48866460 ->GCA_KKIPDTVLEKVYDALLGLLGEVHPS 0.0 14:68191912-68191912 G>A 0.0 3903 MELANOMA - - - - RDH12 ENST00000267502,p.R95Q|NM_152443,p.R95Q|ENST00000551171,p.R95Q|ENST00000539142,p.R95Q|uc001xjz.4,p.R95Q retained_intron, protein_coding, processed_transcript uc001xjz.4 nonsynonymous SNV exon5 c.G284A p.R95Q IRVDTKNSQVLVRKLDLSDTKSIRA IRVDTKNSQVLVQKLDLSDTKSIRA 3.0 4.0 - - 3903_14:68191912-68191912 G>A_IRVDTKNSQVLVQKLDLSDTKSIRA 0.0 1:160327005-160327005 C>T 1.0 3713 MELANOMA - - - - NCSTN NM_001290184,p.R637C|ENST00000368065,p.R399C|uc010pjg.2,p.R399C|NM_001290186,p.R519C|uc010pjf.2,p.R519C|ENST00000368063,p.R637C|ENST00000294785,p.R657C|ENST00000535857,p.R519C|uc001fvy.3,p.R637C|uc001fvx.3,p.R657C|ENST00000392212,p.R637C|NM_015331,p.R657C protein_coding, processed_transcript uc010pjg.2 nonsynonymous SNV exon11 c.C1195T p.R399C YSTWTESRWKDIRARIFLIASKELE YSTWTESRWKDICARIFLIASKELE 10.0 3.0 - - 3713_1:160327005-160327005 C>T_YSTWTESRWKDICARIFLIASKELE 0.0 15:32988799-32988799 G>A 1.0 3466 MELANOMA - - - - SCG5 uc001zha.2,p.D210N|ENST00000497208,p.D192N|uc001zgz.2,p.D209N|ENST00000300175,p.D210N|NM_001144757,p.D210N|NM_003020,p.D209N|ENST00000494364,p.D191N|ENST00000413748,p.D209N retained_intron, protein_coding, processed_transcript uc001zha.2 nonsynonymous SNV exon6 c.G628A p.D210N KKSVPHFSDEDKDPE KKSVPHFSDEDKNPE 3.0 6.0 - - 3466_15:32988799-32988799 G>A_KKSVPHFSDEDKNPE 0.0 7:130139748-130139748 C>T 1.0 3713 MELANOMA - - - - MEST uc011kph.2,p.L176F|ENST00000437945,p.L190F|ENST00000378576,p.L181F|NM_177525,p.L181F|ENST00000393187,p.L181F|uc003vqc.3,p.L181F|NM_001253900,p.L176F|ENST00000223215,p.L190F|uc003vqg.3,p.L190F|ENST00000427521,p.L181F|ENST00000421001,p.L181F|uc022alp.1,p.L181F|NM_001253902,p.L181F|NM_177524,p.L181F|NM_002402,p.L190F|ENST00000341441,p.L181F|NM_001253901,p.L181F|ENST00000416162,p.L181F|ENST00000463263,p.L48F|uc003vqd.3,p.L181F|uc003vqf.3,p.L181F retained_intron, protein_coding, processed_transcript uc022alp.1 nonsynonymous SNV exon7 c.C541T p.L181F GGIFPETHRPLLLQKLLKDGGVLSP GGIFPETHRPLLFQKLLKDGGVLSP 4.0 7.0 - - 3713_7:130139748-130139748 C>T_GGIFPETHRPLLFQKLLKDGGVLSP 0.0 18:21485562-21485562 A>C 1.0 4335 COLORECTAL - - - - LAMA3 ENST00000313654,p.K2231T|ENST00000587184,p.K566T|uc002kur.3,p.K2175T|NM_000227,p.K622T|NM_198129,p.K2231T|ENST00000399516,p.K2175T|NM_001127718,p.K566T|uc002kus.4,p.K622T|NM_001127717,p.K2175T|uc002kut.4,p.K566T|uc002kuq.3,p.K2231T|ENST00000269217,p.K622T retained_intron, protein_coding, processed_transcript, non_stop_decay uc002kut.4 nonsynonymous SNV exon14 c.A1697C p.K566T LSSNSDKLLNEAKMTQKKLKQEVSP LSSNSDKLLNEATMTQKKLKQEVSP 9.0 4.0 - - 4335_18:21485562-21485562 A>C_LSSNSDKLLNEATMTQKKLKQEVSP 0.0 2:69409764-69409764 C>T 1.0 3879 MELANOMA - - - - ANTXR1 ENST00000303714,p.S442F|uc002sfg.3,p.S442F|NM_032208,p.S442F retained_intron, protein_coding uc002sfg.3 nonsynonymous SNV exon16 c.C1325T p.S442F PRNLNNNMRRPSSPRKWYSPIKGKL PRNLNNNMRRPSFPRKWYSPIKGKL 8.0 7.0 - - 3879_2:69409764-69409764 C>T_PRNLNNNMRRPSFPRKWYSPIKGKL 0.0 21:14982694-14982694 C>A 0.0 4326 BREAST - - - - POTED NM_174981,p.H49N|uc002yjb.1,p.H49N|ENST00000299443,p.H49N protein_coding uc002yjb.1 nonsynonymous SNV exon1 c.C145A p.H49N GSGKSNMGTSGDHDDSFMKMLRSKM GSGKSNMGTSGDNDDSFMKMLRSKM 1.0 9.0 - - 4326_21:14982694-14982694 C>A_GSGKSNMGTSGDNDDSFMKMLRSKM 0.0 2:201474083-201474083 G>A 0.0 3466 MELANOMA - - ID=COSM3364485;OCCURENCE=1(kidney) - AOX1 ENST00000374700,p.D367N|NM_001159,p.D367N|uc002uvx.3,p.D367N retained_intron, protein_coding, processed_transcript uc002uvx.3 nonsynonymous SNV exon12 c.G1099A p.D367N LGGHIISRHPDSDLNPILAVGNCTL LGGHIISRHPDSNLNPILAVGNCTL 3.0 1.0 - - 3466_2:201474083-201474083 G>A_LGGHIISRHPDSNLNPILAVGNCTL 0.0 8:23059346-23059346 C>T 1.0 4287 COLORECTAL - - - - TNFRSF10A NM_003844,p.E202K|ENST00000221132,p.E202K|uc003xda.3,p.E202K retained_intron, protein_coding uc003xda.3 nonsynonymous SNV exon4 c.G604A p.E202K CKPGTFRNDNSAEMCRKCSRGCPRG CKPGTFRNDNSAKMCRKCSRGCPRG 8.0 8.0 - - 4287_8:23059346-23059346 C>T_CKPGTFRNDNSAKMCRKCSRGCPRG 0.0 7:146829397-146829397 A>G 0.0 4326 BREAST - - - 2 CNTNAP2 uc003weu.2,p.S382G|ENST00000361727,p.S382G|NM_014141,p.S382G protein_coding, processed_transcript uc003weu.2 nonsynonymous SNV exon8 c.A1144G p.S382G EPYTVPVFFNATSYLEVPGRLNQDL EPYTVPVFFNATGYLEVPGRLNQDL 2.0 6.0 - - 4326_7:146829397-146829397 A>G_EPYTVPVFFNATGYLEVPGRLNQDL 0.0 1:6556602-6556602 C>T 1.0 4326 BREAST - - - - PLEKHG5 ENST00000537245,p.G34E|NM_001265592,p.G34E|uc031plb.1,p.G34E retained_intron, protein_coding uc031plb.1 nonsynonymous SNV exon2 c.G101A p.G34E DAGHDQSPAEKKGLRCQNPACMDKG DAGHDQSPAEKKELRCQNPACMDKG 6.0 8.0 - - 4326_1:6556602-6556602 C>T_DAGHDQSPAEKKELRCQNPACMDKG 0.0 9:32633024-32633024 ->T 0.0 4346 COLORECTAL - - - - TAF1L uc003zrg.1,p.A852fs|ENST00000242310,p.A852fs|NM_153809,p.A852fs protein_coding uc003zrg.1 frameshift insertion exon1 c.2553dupA p.A852fs RPRRIRMEDIKKAFPSHSESSIRKR RPRRIRMEDIKKSLSFPFRKQHPEEAKALR 2.0 5.0 - - 4346_9:32633024-32633024 ->T_RPRRIRMEDIKKSLSFPFRKQHPEEAKALR 0.0 17:37872096-37872096 C>T 1.0 3466 MELANOMA - - - 1 ERBB2 ENST00000584450,p.H473Y|NM_001289938,p.H443Y|ENST00000578199,p.H443Y|NM_001005862,p.H443Y|uc002hsl.3,p.H443Y|uc002hso.3,p.H473Y|uc010cwb.3,p.H473Y|uc010cwa.3,p.H458Y|ENST00000540147,p.H443Y|ENST00000541774,p.H458Y|NM_004448,p.H473Y|ENST00000445658,p.H197Y|ENST00000584601,p.H443Y|ENST00000269571,p.H473Y|uc002hsp.3,p.H276Y|uc010wek.2,p.H197Y|ENST00000540042,p.H443Y|ENST00000406381,p.H443Y|NM_001289936,p.H458Y|NM_001289937,p.H473Y|uc002hsm.3,p.H443Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wek.2 nonsynonymous SNV exon6 c.C589T p.H197Y LGSGLALIHHNTHLCFVHTVPWDQL LGSGLALIHHNTYLCFVHTVPWDQL 6.0 9.0 CD8 - 3466_17:37872096-37872096 C>T_LGSGLALIHHNTYLCFVHTVPWDQL 1.0 1:173616111-173616111 C>T 0.0 3795 MELANOMA - - - - ANKRD45 ENST00000333279,p.E124K|uc001gja.1,p.E124K|NM_198493,p.E124K retained_intron, protein_coding uc001gja.1 nonsynonymous SNV exon3 c.G370A p.E124K TLLHCAAAWGRLETLKALVELDVDI TLLHCAAAWGRLKTLKALVELDVDI 6.0 2.0 - - 3795_1:173616111-173616111 C>T_TLLHCAAAWGRLKTLKALVELDVDI 0.0 9:97879609-97879611 GCA>- 1.0 4326 BREAST - - - 1 FANCC ENST00000289081,p.353_354del|uc004avi.4,p.353_354del|NM_000136,p.353_354del|NM_001243744,p.353_354del|uc022bkl.1,p.353_354del|NM_001243743,p.353_354del|ENST00000375305,p.353_354del|uc004avh.3,p.353_354del protein_coding, processed_transcript uc022bkl.1 nonframeshift deletion exon11 c.1058_1060del p.353_354del FPYTSPSLAMVLLQDPQDIPRGHWLQ FPYTSPSLAMVLQDPQDIPRGHWLQ 7.0 4.0 - - 4326_9:97879609-97879611 GCA>-_FPYTSPSLAMVLQDPQDIPRGHWLQ 0.0 16:15829260-15829260 C>T 0.0 2556 MELANOMA - - - 1 MYH11 uc010bvg.3,p.D989N|NM_022844,p.D1157N|NM_001040113,p.D1164N|uc002ddv.3,p.D1164N|uc002ddx.3,p.D1164N|ENST00000452625,p.D1164N|ENST00000338282,p.D1157N|uc002ddy.3,p.D1157N|uc002ddw.3,p.D1157N|NM_002474,p.D1157N|ENST00000396324,p.D1164N|ENST00000300036,p.D1157N|ENST00000576790,p.D1157N|NM_001040114,p.D1164N retained_intron, protein_coding, processed_transcript uc010bvg.3 nonsynonymous SNV exon27 c.G2965A p.D989N GEELEALKTELEDTLDSTATQQELR GEELEALKTELENTLDSTATQQELR 1.0 7.0 - - 2556_16:15829260-15829260 C>T_GEELEALKTELENTLDSTATQQELR 0.0 22:45754630-45754630 C>T 0.0 4301 MELANOMA - - - - SMC1B ENST00000357450,p.E970K|NM_148674,p.E970K|NM_001291501,p.E970K|ENST00000404354,p.E970K|uc003bgd.3,p.E970K|uc003bgc.3,p.E970K protein_coding uc003bgd.3 nonsynonymous SNV exon19 c.G2908A p.E970K EAESTQATIDIYEKEEAFEIDYSSL EAESTQATIDIYKKEEAFEIDYSSL 4.0 2.0 - - 4301_22:45754630-45754630 C>T_EAESTQATIDIYKKEEAFEIDYSSL 0.0 6:31616485-31616485 C>T 1.0 4189 MELANOMA - - - - BAG6 ENST00000456286,p.R174K|ENST00000433828,p.R174K|ENST00000424480,p.R174K|ENST00000437771,p.R174K|uc011dnw.2,p.R174K|uc003nvh.4,p.R174K|ENST00000424176,p.R156K|ENST00000404765,p.R174K|uc003nvf.4,p.R174K|ENST00000435080,p.R174K|NM_080703,p.R174K|ENST00000441054,p.R156K|NM_001098534,p.R174K|ENST00000211379,p.R174K|ENST00000439687,p.R174K|uc003nvi.4,p.R174K|ENST00000451898,p.R156K|ENST00000434444,p.R156K|ENST00000456622,p.R156K|NM_080702,p.R174K|ENST00000362049,p.R174K|ENST00000375976,p.R174K|ENST00000452994,p.R174K|NM_001199698,p.R174K|ENST00000428326,p.R174K|NM_001199697,p.R174K|uc011dnx.2,p.R174K retained_intron, protein_coding, processed_transcript uc011dnx.2 nonsynonymous SNV exon6 c.G521A p.R174K PRVRLVMAQHMIRDIQTLLSRMECR PRVRLVMAQHMIKDIQTLLSRMECR 10.0 5.0 - - 4189_6:31616485-31616485 C>T_PRVRLVMAQHMIKDIQTLLSRMECR 0.0 19:9085781-9085781 C>T 0.0 4246 COLORECTAL - - - 2 MUC16 NM_024690,p.A2012T|ENST00000397910,p.A2012T|uc002mkp.3,p.A2012T protein_coding, processed_transcript, nonsense_mediated_decay uc002mkp.3 nonsynonymous SNV exon1 c.G6034A p.A2012T QSTPYVNSVAVSASPTHENSVSSGS QSTPYVNSVAVSTSPTHENSVSSGS 2.0 6.0 - - 4246_19:9085781-9085781 C>T_QSTPYVNSVAVSTSPTHENSVSSGS 0.0 6:31657475-31657475 G>A 1.0 3784 MELANOMA - - - - ABHD16A uc011dny.2,p.P289S|uc003nvx.2,p.P103S|ENST00000375842,p.P103S|NM_021160,p.P322S|uc010jtc.2,p.P103S|ENST00000395952,p.P322S|ENST00000440843,p.P289S|uc011dnz.2,p.P103S|NM_001177515,p.P289S|uc003nvy.2,p.P322S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011dnz.2 nonsynonymous SNV exon14 c.C307T p.P103S WNHPGFAGSTGVPFPQNEANAMDVV WNHPGFAGSTGVSFPQNEANAMDVV 8.0 1.0 - - 3784_6:31657475-31657475 G>A_WNHPGFAGSTGVSFPQNEANAMDVV 0.0 16:88804452-88804452 G>A 1.0 4078 GASTRIC - - - - PIEZO1 uc010vpb.2,p.L304F|ENST00000301015,p.L304F|NM_001142864,p.L304F retained_intron, protein_coding, nonsense_mediated_decay uc010vpb.2 nonsynonymous SNV exon8 c.C910T p.L304F GPTNCSSPHALVLNTGLDWPVYASP GPTNCSSPHALVFNTGLDWPVYASP 9.0 10.0 - - 4078_16:88804452-88804452 G>A_GPTNCSSPHALVFNTGLDWPVYASP 0.0 18:2673307-2673307 A>G 0.0 4335 COLORECTAL - - - - SMCHD1 uc002klm.4,p.N151S|NM_015295,p.N151S|ENST00000261598,p.N151S|ENST00000320876,p.N151S retained_intron, protein_coding, nonsense_mediated_decay uc002klm.4 nonsynonymous SNV exon4 c.A452G p.N151S NPLPFALAELIDNSLSATSRNIGVR NPLPFALAELIDSSLSATSRNIGVR 8.0 7.0 - - 4335_18:2673307-2673307 A>G_NPLPFALAELIDSSLSATSRNIGVR 0.0 10:115887350-115887350 G>C 1.0 4149 OVARIAN - - - - CCDC186 ENST00000369287,p.Q755E|uc009xyd.1,p.Q353E|uc001lbc.1,p.Q755E|ENST00000543782,p.Q353E|uc001lbb.1,p.Q755E|NM_018017,p.Q755E protein_coding, processed_transcript uc009xyd.1 nonsynonymous SNV exon9 c.C1057G p.Q353E NTGSSVAVDNFPQVDKAMLIERIVR NTGSSVAVDNFPEVDKAMLIERIVR 9.0 9.0 - - 4149_10:115887350-115887350 G>C_NTGSSVAVDNFPEVDKAMLIERIVR 0.0 11:66108281-66108287 GCCTCTG>- 1.0 4252 COLORECTAL - - - - BRMS1 uc001ohp.1,p.Q165fs|NM_015399,p.Q165fs|ENST00000359957,p.Q165fs retained_intron, protein_coding, nonsense_mediated_decay uc001ohp.1 frameshift deletion exon6 c.493_499del p.Q165fs YDTLQGELQERIQRLEEDRQSLDLS YDTLQGELQERIWRRTARAWTSALNGGMTNCTPEAAPGLGTPCRPARGRRHLWFLAHTSCTCFKRSTSWRTGQPSKRLGQLCPLRRENRMDL 10.0 4.0 - - 4252_11:66108281-66108287 GCCTCTG>-_YDTLQGELQERIWRRTARAWTSALNGGMTNCTPEAAPGLGTPCRPARGRRHLWFLAHTSCTCFKRSTSWRTGQPSKRLGQLCPLRRENRMDL 0.0 10:135032455-135032455 C>T 0.0 3903 MELANOMA 0.0005 - ID=COSM325647;OCCURENCE=1(lung) - KNDC1 ENST00000368572,p.P1602S|uc001llz.1,p.P1600S|NM_152643,p.P1600S|ENST00000304613,p.P1600S retained_intron, protein_coding, processed_transcript uc001llz.1 nonsynonymous SNV exon27 c.C4798T p.P1600S LSGLEHLAVRQSPAWRILPAKIAEV LSGLEHLAVRQSSAWRILPAKIAEV 1.0 5.0 - - 3903_10:135032455-135032455 C>T_LSGLEHLAVRQSSAWRILPAKIAEV 0.0 9:140509168-140509168 A>C 1.0 4037 NSCLC - - - - ARRDC1 NM_152285,p.E318A|uc004cns.3,p.E318A|uc004cnp.2,p.E318A|uc004cnx.2,p.E193A|ENST00000371421,p.E318A protein_coding, processed_transcript, nonsense_mediated_decay uc004cnx.2 nonsynonymous SNV exon3 c.A578C p.E193A LVVPSAPPQEEAEAEAAAGGPHFLD LVVPSAPPQEEAAAEAAAGGPHFLD 10.0 9.0 - - 4037_9:140509168-140509168 A>C_LVVPSAPPQEEAAAEAAAGGPHFLD 0.0 12:72316781-72316781 T>G 1.0 3466 MELANOMA - - - - TBC1D15 uc001sww.3,p.C379G|NM_001146213,p.C608G|ENST00000485960,p.C608G|NM_001146214,p.C616G|uc001swv.3,p.C608G|ENST00000550746,p.C625G|uc001swu.3,p.C625G|ENST00000319106,p.C616G|uc010stt.2,p.C616G|ENST00000393309,p.C379G|NM_022771,p.C625G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010stt.2 nonsynonymous SNV exon18 c.T1846G p.C616G QMVKCKELPQAVCEILGLQGSEVTT QMVKCKELPQAVGEILGLQGSEVTT 9.0 9.0 - - 3466_12:72316781-72316781 T>G_QMVKCKELPQAVGEILGLQGSEVTT 0.0 11:21592358-21592358 A>C 0.0 4246 COLORECTAL - - - - NELL1 uc001mqh.3,p.S222R|ENST00000325319,p.S620R|NM_201551,p.S630R|uc001mqf.3,p.S630R|uc010rdo.2,p.S620R|uc001mqe.3,p.S677R|NM_001288714,p.S620R|ENST00000532434,p.S630R|NM_001288713,p.S705R|uc010rdp.2,p.S390R|ENST00000357134,p.S677R|NM_006157,p.S677R|uc009yid.3,p.S705R|ENST00000298925,p.S705R retained_intron, protein_coding, processed_transcript uc010rdp.2 nonsynonymous SNV exon14 c.A1168C p.S390R FCRRTACDCQNPSADLFCCPECDTR FCRRTACDCQNPRADLFCCPECDTR 1.0 4.0 - - 4246_11:21592358-21592358 A>C_FCRRTACDCQNPRADLFCCPECDTR 0.0 4:4322514-4322514 A>C 0.0 4335 COLORECTAL - - - - ZBTB49 uc010icz.3,p.D168A|ENST00000538529,p.D73A|uc003ghu.3,p.D590A|ENST00000355834,p.D468A|uc003ghv.3,p.D73A|ENST00000337872,p.D590A|NM_145291,p.D590A protein_coding, nonsense_mediated_decay uc010icz.3 nonsynonymous SNV exon2 c.A503C p.D168A LRRHKKMHCKAGDESPDVLEELSQA LRRHKKMHCKAGAESPDVLEELSQA 5.0 2.0 - - 4335_4:4322514-4322514 A>C_LRRHKKMHCKAGAESPDVLEELSQA 0.0 17:57290220-57290220 T>G 1.0 4298 COLORECTAL - - - - SMG8 ENST00000582469,p.L222R|ENST00000300917,p.L679R|NM_018149,p.L679R|ENST00000543872,p.L679R|uc002ixi.3,p.L679R protein_coding, processed_transcript, nonsense_mediated_decay uc002ixi.3 nonsynonymous SNV exon3 c.T2036G p.L679R SSPAPPDSDADKLKEKEPQTQGEST SSPAPPDSDADKRKEKEPQTQGEST 5.0 8.0 - - 4298_17:57290220-57290220 T>G_SSPAPPDSDADKRKEKEPQTQGEST 0.0 19:57286508-57286508 G>T 0.0 4129 NSCLC - - - - ZIM2 uc010ygr.1,p.H174N|uc002qnq.2,p.H378N|uc010ygq.1,p.H174N|NM_001146326,p.H378N|ENST00000599935,p.H378N|ENST00000391708,p.H378N|uc010ygs.1,p.H378N|NM_001146327,p.H378N|uc002qnr.2,p.H378N|NM_015363,p.H378N|ENST00000221722,p.H378N|uc010etp.2,p.H378N|ENST00000601070,p.H378N|ENST00000593711,p.H378N retained_intron, protein_coding, nonsense_mediated_decay uc010ygs.1 nonsynonymous SNV exon11 c.C1132A p.H378N YLMPHLNRHQKTHSGRKTSGCNEGR YLMPHLNRHQKTNSGRKTSGCNEGR 1.0 8.0 - - 4129_19:57286508-57286508 G>T_YLMPHLNRHQKTNSGRKTSGCNEGR 0.0 8:145000009-145000009 G>A 1.0 3795 MELANOMA - - - - PLEC NM_201380,p.A1500V|ENST00000398774,p.A1331V|ENST00000322810,p.A1500V|ENST00000527096,p.A1386V|ENST00000436759,p.A1390V|NM_201382,p.A1363V|NM_201378,p.A1349V|uc003zag.1,p.A1341V|uc003zac.1,p.A1367V|ENST00000354958,p.A1341V|NM_201383,p.A1367V|uc003zab.1,p.A1363V|NM_201381,p.A1331V|uc003zae.1,p.A1331V|ENST00000345136,p.A1363V|uc003zaf.1,p.A1500V|NM_000445,p.A1390V|ENST00000354589,p.A1363V|ENST00000357649,p.A1367V|NM_201379,p.A1341V|uc003zad.2,p.A1363V|uc003zah.2,p.A1349V|NM_201384,p.A1363V|uc003zaj.2,p.A1390V|ENST00000356346,p.A1349V retained_intron, protein_coding uc003zaj.2 nonsynonymous SNV exon32 c.C4169T p.A1390V AEQQRAEERERLAEVEAALEKQRQL AEQQRAEERERLVEVEAALEKQRQL 9.0 3.0 - - 3795_8:145000009-145000009 G>A_AEQQRAEERERLVEVEAALEKQRQL 0.0 4:5664857-5664859 CCC>- 0.0 4158 COLORECTAL - - - - EVC2 uc003gij.3,p.374_374del|ENST00000310917,p.294_294del|uc003gik.3,p.294_294del|ENST00000344938,p.374_374del|ENST00000509670,p.294_294del|NM_147127,p.374_374del|NM_001166136,p.294_294del|ENST00000344408,p.374_374del|ENST00000475313,p.294_294del protein_coding, nonsense_mediated_decay uc003gik.3 nonframeshift deletion exon9 c.880_882del p.294_294del DQMIDILSSEDPGSMLQALEELEIA DQMIDILSSEDPSMLQALEELEIAT 4.0 6.0 - - 4158_4:5664857-5664859 CCC>-_DQMIDILSSEDPSMLQALEELEIAT 0.0 19:36398149-36398149 G>A 0.0 4213 COLORECTAL - - - - TYROBP ENST00000585901,p.R114C retained_intron, protein_coding, nonsense_mediated_decay ENST00000585901 nonsynonymous SNV exon4 c.C340T p.R114C QHPSPPAATRKQRITETESPYQELQ QHPSPPAATRKQCITETESPYQELQ 10.0 8.0 - - 4213_19:36398149-36398149 G>A_QHPSPPAATRKQCITETESPYQELQ 0.0 12:64041124-64041124 A>G 0.0 4278 COLORECTAL - - - - DPY19L2 uc001srp.1,p.C204R|ENST00000324472,p.C204R|NM_173812,p.C204R retained_intron, protein_coding, nonsense_mediated_decay uc001srp.1 nonsynonymous SNV exon5 c.T610C p.C204R HLYPEVIIASWYCTFMGIMNLFGLE HLYPEVIIASWYRTFMGIMNLFGLE 6.0 1.0 - - 4278_12:64041124-64041124 A>G_HLYPEVIIASWYRTFMGIMNLFGLE 0.0 20:37005269-37005269 C>A 0.0 4259 COLORECTAL - - - - LBP ENST00000217407,p.D468E|NM_004139,p.D468E|uc002xic.2,p.D468E protein_coding uc002xic.2 nonsynonymous SNV exon15 c.C1404A p.D468E VQLYDLGLQIHKDFLFLGANVQYMR VQLYDLGLQIHKEFLFLGANVQYMR 4.0 3.0 - - 4259_20:37005269-37005269 C>A_VQLYDLGLQIHKEFLFLGANVQYMR 0.0 19:18994902-18994902 G>A 0.0 4155 MELANOMA - - - - CERS1 uc010ebx.3,p.A97V|uc002nkj.3,p.A195V|NM_001290265,p.A97V|ENST00000542296,p.A97V|uc002nki.1,p.A195V|ENST00000427170,p.A195V|NM_198207,p.A195V|NM_021267,p.A195V|ENST00000429504,p.A195V protein_coding uc010ebx.3 nonsynonymous SNV exon3 c.C290T p.A97V HVVTLILIVSSYAFRYHNVGILVLF HVVTLILIVSSYVFRYHNVGILVLF 7.0 3.0 - - 4155_19:18994902-18994902 G>A_HVVTLILIVSSYVFRYHNVGILVLF 0.0 1:117122181-117122181 T>C 1.0 4284 COLORECTAL - - - - IGSF3 ENST00000369486,p.Q1056R|NM_001542,p.Q1076R|uc031pnr.1,p.Q1076R|ENST00000318837,p.Q1076R|NM_001007237,p.Q1056R|uc001egr.2,p.Q1056R|ENST00000369483,p.Q1076R protein_coding, processed_transcript uc031pnr.1 nonsynonymous SNV exon10 c.A3227G p.Q1076R PEGSPWEGRLRFQRLSPVLYRLTVL PEGSPWEGRLRFRRLSPVLYRLTVL 7.0 4.0 - - 4284_1:117122181-117122181 T>C_PEGSPWEGRLRFRRLSPVLYRLTVL 0.0 X:103432841-103432841 A>G 1.0 4335 COLORECTAL - - - - FAM199X uc004elx.3,p.S101G protein_coding, processed_transcript uc004elx.3 nonsynonymous SNV exon3 c.A301G p.S101G TSGVSGASASASSSSASMKRSKQRK TSGVSGASASASGSSASMKRSKQRK 6.0 1.0 - - 4335_X:103432841-103432841 A>G_TSGVSGASASASGSSASMKRSKQRK 0.0 2:238664814-238664814 G>T 1.0 4284 COLORECTAL - - - - LRRFIP1 NM_001137550,p.R372I|ENST00000308482,p.R372I|uc002vxc.3,p.R372I retained_intron, protein_coding, processed_transcript uc002vxc.3 nonsynonymous SNV exon16 c.G1115T p.R372I FQFAEVKEALKQREEMLEEIRQLQQ FQFAEVKEALKQIEEMLEEIRQLQQ 10.0 10.0 - - 4284_2:238664814-238664814 G>T_FQFAEVKEALKQIEEMLEEIRQLQQ 0.0 1:67288187-67288187 T>G 1.0 4244 COLORECTAL - - - - WDR78 ENST00000371026,p.I785L|uc009waw.3,p.I498L|uc001dcx.3,p.I785L|ENST00000431318,p.I498L|NM_024763,p.I785L|ENST00000464352,p.I518L protein_coding, processed_transcript, nonsense_mediated_decay uc009waw.3 nonsynonymous SNV exon11 c.A1492C p.I498L IWDLHISTLDPLIVNTANPGIKFTT IWDLHISTLDPLLVNTANPGIKFTT 6.0 10.0 - - 4244_1:67288187-67288187 T>G_IWDLHISTLDPLLVNTANPGIKFTT 0.0 X:53438753-53438753 C>A 0.0 4298 COLORECTAL - - - 2 SMC1A uc004dsg.3,p.Q404H|NM_001281463,p.Q382H|ENST00000375340,p.Q170H|NM_006306,p.Q404H|ENST00000322213,p.Q404H|uc011mof.2,p.Q170H|uc011moe.2,p.Q382H protein_coding, processed_transcript uc011mof.2 nonsynonymous SNV exon4 c.G510T p.Q170H ELEKFNRDQKADQDRLDLEERKKVE ELEKFNRDQKADHDRLDLEERKKVE 10.0 2.0 - - 4298_X:53438753-53438753 C>A_ELEKFNRDQKADHDRLDLEERKKVE 0.0 3:126736592-126736592 G>A 1.0 4237 NSCLC - - - - PLXNA1 ENST00000251772,p.G1150S|ENST00000393409,p.G1173S|NM_032242,p.G1173S|uc003ejg.3,p.G1173S retained_intron, protein_coding, processed_transcript uc003ejg.3 nonsynonymous SNV exon18 c.G3517A p.G1173S LELKPSSPLILKGRNLLPPAPGNSR LELKPSSPLILKSRNLLPPAPGNSR 9.0 10.0 - - 4237_3:126736592-126736592 G>A_LELKPSSPLILKSRNLLPPAPGNSR 0.0 3:126181024-126181024 G>A 1.0 3903 MELANOMA - - - - ZXDC uc003eiv.3,p.P494L|ENST00000336332,p.P494L|uc003eix.2,p.P494L|ENST00000389709,p.P494L|NM_001040653,p.P494L|NM_025112,p.P494L retained_intron, protein_coding, nonsense_mediated_decay uc003eix.2 nonsynonymous SNV exon6 c.C1481T p.P494L LLPQLEAPSSLTPSSELSSPGQSEL LLPQLEAPSSLTLSSELSSPGQSEL 7.0 3.0 - - 3903_3:126181024-126181024 G>A_LLPQLEAPSSLTLSSELSSPGQSEL 0.0 17:73945826-73945826 G>A 1.0 3678 MELANOMA - - - - ACOX1 NM_007292,p.T484I|ENST00000537812,p.T446I|ENST00000301608,p.T484I|uc002jqf.3,p.T484I|ENST00000293217,p.T484I|uc002jqe.3,p.T484I|uc010wsr.2,p.T416I|uc010wsq.2,p.T446I|NM_001185039,p.T446I|NM_004035,p.T484I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wsr.2 nonsynonymous SNV exon11 c.C1247T p.T416I PTMVDINSPESLTEAYKLRAARLVE PTMVDINSPESLIEAYKLRAARLVE 8.0 8.0 - - 3678_17:73945826-73945826 G>A_PTMVDINSPESLIEAYKLRAARLVE 0.0 8:14181694-14181694 C>T 0.0 4186 BREAST - - - - SGCZ uc003wwq.3,p.R85K|ENST00000382080,p.R85K|NM_139167,p.R85K protein_coding uc003wwq.3 nonsynonymous SNV exon3 c.G254A p.R85K VMNFTVDGMGNLRVTKKGIRLEGIS VMNFTVDGMGNLKVTKKGIRLEGIS 1.0 9.0 - - 4186_8:14181694-14181694 C>T_VMNFTVDGMGNLKVTKKGIRLEGIS 0.0 6:10803953-10803953 T>G 0.0 4078 GASTRIC - - - - MAK uc003mzm.3,p.K221N|ENST00000474039,p.K221N|ENST00000538030,p.K221N|uc021yll.1,p.K221N|ENST00000313243,p.K221N|NM_005906,p.K221N|ENST00000354489,p.K221N|uc021ylk.1,p.K221N|ENST00000536370,p.K221N|NM_001242957,p.K221N|NM_001242385,p.K221N protein_coding, processed_transcript uc021yll.1 nonsynonymous SNV exon7 c.A663C p.K221N IFKICQVLGTPKKSDWPEGYQLASS IFKICQVLGTPKNSDWPEGYQLASS 1.0 8.0 - - 4078_6:10803953-10803953 T>G_IFKICQVLGTPKNSDWPEGYQLASS 0.0 3:48621376-48621376 C>T 1.0 3784 MELANOMA - - ID=COSM419967;OCCURENCE=1(urinary_tract) - COL7A1 ENST00000328333,p.G1412E|NM_000094,p.G1412E|ENST00000454817,p.G1412E|uc003ctz.2,p.G1412E retained_intron, protein_coding, processed_transcript uc003ctz.2 nonsynonymous SNV exon38 c.G4235A p.G1412E GDKGDRGERGPPGPGEGGIAPGEPG GDKGDRGERGPPEPGEGGIAPGEPG 5.0 7.0 - - 3784_3:48621376-48621376 C>T_GDKGDRGERGPPEPGEGGIAPGEPG 0.0 17:73227673-73227673 G>A 1.0 4252 COLORECTAL - - - - NUP85 ENST00000579557,p.G168D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000579557 nonsynonymous SNV exon5 c.G503A p.G168D FDIHQVIKECSFGSNMREFLLLEYA FDIHQVIKECSFDSNMREFLLLEYA 10.0 10.0 - - 4252_17:73227673-73227673 G>A_FDIHQVIKECSFDSNMREFLLLEYA 0.0 5:50111353-50111353 G>A 1.0 4275 COLORECTAL - - - - PARP8 uc003jop.3,p.A555T|ENST00000503750,p.A555T|ENST00000514342,p.A308T|NM_001178056,p.A555T|ENST00000514067,p.A555T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003jop.3 nonsynonymous SNV exon15 c.G1663A p.A555T VMNEAADEIATGAQKKNYDRVMKAL VMNEAADEIATGTQKKNYDRVMKAL 9.0 5.0 - - 4275_5:50111353-50111353 G>A_VMNEAADEIATGTQKKNYDRVMKAL 0.0 19:17306069-17306069 C>T 1.0 3713 MELANOMA - - - - MYO9B ENST00000595641,p.P1278L|NM_004145,p.P1278L|uc002nfi.3,p.P1278L|uc010eak.3,p.P1278L|uc002nfj.1,p.P1278L|NM_001130065,p.P1278L|ENST00000594824,p.P1278L|ENST00000595618,p.P1278L|ENST00000397274,p.P1278L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010eak.3 nonsynonymous SNV exon22 c.C3833T p.P1278L GSAPETPEDKSKPCGSPRVQEKPDS GSAPETPEDKSKLCGSPRVQEKPDS 10.0 9.0 - - 3713_19:17306069-17306069 C>T_GSAPETPEDKSKLCGSPRVQEKPDS 0.0 2:26410996-26410996 C>T 1.0 2556 MELANOMA - - - - GAREML NM_001168241,p.A832V|uc002rgx.2,p.A622V|NM_001191033,p.A622V|ENST00000407684,p.A622V|uc002rgw.2,p.A832V|ENST00000401533,p.A832V protein_coding, processed_transcript uc002rgx.2 nonsynonymous SNV exon6 c.C1865T p.A622V FIGLSEDVVSFFARERIDGSIFVQL FIGLSEDVVSFFVRERIDGSIFVQL 5.0 9.0 - - 2556_2:26410996-26410996 C>T_FIGLSEDVVSFFVRERIDGSIFVQL 0.0 22:21350356-21350356 G>A 0.0 4149 OVARIAN - - - 1 LZTR1 ENST00000215739,p.R725H|ENST00000389355,p.R706H|uc011ahy.2,p.R706H|uc002ztn.3,p.R684H|NM_006767,p.R725H|uc002zto.3,p.R725H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011ahy.2 nonsynonymous SNV exon17 c.G2117A p.R706H MVPSRQAFESMLRYIYYGEVNMPPE MVPSRQAFESMLHYIYYGEVNMPPE 5.0 6.0 - - 4149_22:21350356-21350356 G>A_MVPSRQAFESMLHYIYYGEVNMPPE 0.0 2:39553065-39553065 G>A 1.0 3466 MELANOMA - - - - MAP4K3 NM_003618,p.P234S|ENST00000263881,p.P234S|ENST00000437545,p.P171S|ENST00000341681,p.P234S|NM_001270425,p.P234S|uc002rro.4,p.P234S|uc002rrp.4,p.P234S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002rrp.4 nonsynonymous SNV exon10 c.C700T p.P234S ALFLMTKSNFQPPKLKDKMKWSNSF ALFLMTKSNFQPSKLKDKMKWSNSF 7.0 3.0 - - 3466_2:39553065-39553065 G>A_ALFLMTKSNFQPSKLKDKMKWSNSF 0.0 11:65373246-65373246 G>A 1.0 3713 MELANOMA - - - - MAP3K11 uc010rol.2,p.P349L|uc001oew.3,p.P606L|ENST00000530153,p.P349L|uc001oex.1,p.P113L|uc001oev.3,p.P22L|ENST00000309100,p.P606L|ENST00000532507,p.P22L|NM_002419,p.P606L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010rol.2 nonsynonymous SNV exon8 c.C1046T p.P349L SDDSSPLGSPSTPPALNGNPPRPSL SDDSSPLGSPSTLPALNGNPPRPSL 9.0 3.0 - - 3713_11:65373246-65373246 G>A_SDDSSPLGSPSTLPALNGNPPRPSL 0.0 7:73530244-73530244 C>T 1.0 3466 MELANOMA - - - - LIMK1 NM_002314,p.T508I|ENST00000418310,p.T538I|NM_001204426,p.T474I|uc003uab.3,p.T474I|ENST00000538333,p.T474I|uc003uaa.2,p.T508I|ENST00000336180,p.T508I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003uab.3 nonsynonymous SNV exon12 c.C1421T p.T474I RSLKKPDRKKRYTVVGNPYWMAPEM RSLKKPDRKKRYIVVGNPYWMAPEM 9.0 8.0 - - 3466_7:73530244-73530244 C>T_RSLKKPDRKKRYIVVGNPYWMAPEM 0.0 7:128317802-128317802 G>A 1.0 3678 MELANOMA - - - - FAM71F2 ENST00000480462,p.D184N|NM_001012454,p.D184N|uc003vnk.4,p.D184N|NM_001128926,p.D175N|uc010llm.1,p.D175N|ENST00000434001,p.D175N|NM_001290255,p.D89N|ENST00000474069,p.D175N|ENST00000378704,p.D175N|NM_001290254,p.D89N protein_coding, processed_transcript uc010llm.1 nonsynonymous SNV exon3 c.G523A p.D175N KILQKGLSITTKDPRIKFTHCLVPK KILQKGLSITTKNPRIKFTHCLVPK 5.0 1.0 - - 3678_7:128317802-128317802 G>A_KILQKGLSITTKNPRIKFTHCLVPK 0.0 21:34927316-34927316 C>T 1.0 3784 MELANOMA - - - - SON ENST00000290239,p.R1927C|NM_001291411,p.R1927C|uc002ysd.3,p.R918C|ENST00000455528,p.R1927C|ENST00000300278,p.R1927C|uc002ysg.3,p.R918C|NM_032195,p.R1927C|ENST00000381679,p.R1927C|uc002ysc.3,p.R1927C|ENST00000356577,p.R1927C|uc002yse.1,p.R1927C|uc002ysb.1,p.R1927C|NM_138927,p.R1927C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002ysg.3 nonsynonymous SNV exon1 c.C2752T p.R918C RKTVRARSRTPSRRSRSHTPSRRRR RKTVRARSRTPSCRSRSHTPSRRRR 10.0 3.0 CD8 - 3784_21:34927316-34927316 C>T_RKTVRARSRTPSCRSRSHTPSRRRR 1.0 17:39597112-39597112 C>T 0.0 3903 MELANOMA - - - - KRT38 ENST00000246646,p.R21K|NM_006771,p.R21K|uc002hwq.1,p.R21K protein_coding uc002hwq.1 nonsynonymous SNV exon1 c.G62A p.R21K SCPLGCTMAPGARNVSVSPIDIGCQ SCPLGCTMAPGAKNVSVSPIDIGCQ 1.0 5.0 - - 3903_17:39597112-39597112 C>T_SCPLGCTMAPGAKNVSVSPIDIGCQ 0.0 11:763414-763414 T>C 1.0 4180 BREAST - - - - TALDO1 ENST00000528097,p.C178R|NM_006755,p.C178R|uc001lra.3,p.C178R|ENST00000319006,p.C178R|uc001lqz.3,p.C178R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001lra.3 nonsynonymous SNV exon5 c.T532C p.C178R MTLLFSFAQAVACAEAGVTLISPFV MTLLFSFAQAVARAEAGVTLISPFV 10.0 10.0 - - 4180_11:763414-763414 T>C_MTLLFSFAQAVARAEAGVTLISPFV 0.0 16:55517005-55517005 T>C 1.0 3466 MELANOMA - - - - MMP2 ENST00000570308,p.F37S|ENST00000543485,p.F37S|ENST00000437642,p.F63S|ENST00000568715,p.F37S|ENST00000219070,p.F113S|uc010ccc.3,p.F63S|ENST00000564864,p.F37S|NM_001127891,p.F63S|NM_004530,p.F113S|uc002ehz.4,p.F113S|uc010vhd.2,p.F37S protein_coding, nonsense_mediated_decay uc010vhd.2 nonsynonymous SNV exon2 c.T110C p.F37S RCGNPDVANYNFFPRKPKWDKNQIT RCGNPDVANYNFSPRKPKWDKNQIT 10.0 3.0 - - 3466_16:55517005-55517005 T>C_RCGNPDVANYNFSPRKPKWDKNQIT 0.0 19:5231497-5231497 G>A 0.0 4081 COLORECTAL - - - - PTPRS ENST00000587303,p.P660L|ENST00000262963,p.P656L|ENST00000348075,p.P647L|NM_130854,p.P647L|ENST00000372412,p.P661L|uc002mbv.3,p.P660L|ENST00000357368,p.P660L|uc002mbw.3,p.P647L|ENST00000588012,p.P647L|NM_002850,p.P660L retained_intron, protein_coding, processed_transcript uc002mbw.3 nonsynonymous SNV exon11 c.C1940T p.P647L NGALVGYSVRYRPLGSEDPEPKEVN NGALVGYSVRYRLLGSEDPEPKEVN 8.0 4.0 - - 4081_19:5231497-5231497 G>A_NGALVGYSVRYRLLGSEDPEPKEVN 0.0 15:56208863-56208863 G>C 0.0 4213 COLORECTAL - - - - NEDD4 uc002adi.3,p.T56S|ENST00000508342,p.T56S|NM_001284338,p.T56S|uc010bfm.3,p.T56S|uc002adj.3,p.T56S|NM_001284339,p.T56S|ENST00000338963,p.T56S|NM_198400,p.T56S|ENST00000506154,p.T56S|uc010ugj.2,p.T56S|NM_001284340,p.T56S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ugj.2 nonsynonymous SNV exon1 c.C167G p.T56S SNVVQMKLTPRQTALAPLIKENVQS SNVVQMKLTPRQSALAPLIKENVQS 7.0 5.0 - - 4213_15:56208863-56208863 G>C_SNVVQMKLTPRQSALAPLIKENVQS 0.0 2:113676140-113676140 G>T 0.0 2591 MELANOMA - - - - IL37 uc002tik.3,p.K116N|uc002tij.3,p.K137N|NM_173204,p.K97N|uc002til.3,p.K97N|NM_173203,p.K76N|ENST00000263326,p.K137N|uc002tin.3,p.K111N|NM_173205,p.K111N|ENST00000349806,p.K76N|ENST00000353225,p.K97N|NM_173202,p.K116N|ENST00000352179,p.K116N|NM_014439,p.K137N|uc002tim.3,p.K76N|ENST00000311328,p.K111N protein_coding uc002tin.3 nonsynonymous SNV exon4 c.G333T p.K111N DKGQSHPSLQLKKEKLMKLAAQKES DKGQSHPSLQLKNEKLMKLAAQKES 1.0 8.0 - - 2591_2:113676140-113676140 G>T_DKGQSHPSLQLKNEKLMKLAAQKES 0.0 7:39990346-39990346 C>G 1.0 4326 BREAST - - - - CDK13 uc003thh.4,p.Q36E|ENST00000340829,p.Q36E|NM_003718,p.Q36E|ENST00000181839,p.Q36E|NM_031267,p.Q36E|uc003thi.4,p.Q36E retained_intron, protein_coding, processed_transcript uc003thi.4 nonsynonymous SNV exon1 c.C106G p.Q36E ERRKRRRFLSPQQPPLLLPLLQPQL ERRKRRRFLSPQEPPLLLPLLQPQL 9.0 2.0 - - 4326_7:39990346-39990346 C>G_ERRKRRRFLSPQEPPLLLPLLQPQL 0.0 19:23542703-23542703 T>A 1.0 4335 COLORECTAL - - - - ZNF91 uc010xrj.2,p.E994D|ENST00000397082,p.E994D|NM_001300951,p.E994D|NM_003430,p.E1026D|ENST00000300619,p.E1026D|uc002nre.3,p.E1026D retained_intron, protein_coding, processed_transcript uc010xrj.2 nonsynonymous SNV exon3 c.A2982T p.E994D RMHTGEKPYKCEECGKAFNRSSKLT RMHTGEKPYKCEDCGKAFNRSSKLT 10.0 2.0 - - 4335_19:23542703-23542703 T>A_RMHTGEKPYKCEDCGKAFNRSSKLT 0.0 12:49436929-49436929 A>C 1.0 3713 MELANOMA - - - 1 KMT2D ENST00000301067,p.S1858R|uc001rta.4,p.S1858R|NM_003482,p.S1858R retained_intron, protein_coding, processed_transcript uc001rta.4 nonsynonymous SNV exon25 c.T5574G p.S1858R PEDGGVKASPVPSDPEKPGTPGEGM PEDGGVKASPVPRDPEKPGTPGEGM 9.0 8.0 - - 3713_12:49436929-49436929 A>C_PEDGGVKASPVPRDPEKPGTPGEGM 0.0 20:34297185-34297185 C>A 1.0 4335 COLORECTAL - - - - RBM39 uc002xeb.3,p.V396F|uc010gfn.3,p.V239F|NM_001242599,p.V374F|ENST00000407261,p.V239F|uc002xeg.3,p.V374F|ENST00000528062,p.V374F|NM_184234,p.V396F|uc010zvn.2,p.V239F|ENST00000253363,p.V396F|uc002xee.3,p.V239F|uc002xed.3,p.V114F|uc002xdz.3,p.V372F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010zvn.2 nonsynonymous SNV exon14 c.G715T p.V239F SLAFGAVAEFSFVIDLQTRLSQQTE SLAFGAVAEFSFFIDLQTRLSQQTE 10.0 3.0 - - 4335_20:34297185-34297185 C>A_SLAFGAVAEFSFFIDLQTRLSQQTE 0.0 1:214813713-214813713 G>A 0.0 2591 MELANOMA - - - - CENPF NM_016343,p.E678K|uc001hkm.3,p.E678K|ENST00000366955,p.E678K protein_coding, processed_transcript uc001hkm.3 nonsynonymous SNV exon12 c.G2032A p.E678K RTLEMDRENLSVEIRNLHNVLDSKS RTLEMDRENLSVKIRNLHNVLDSKS 9.0 5.0 - - 2591_1:214813713-214813713 G>A_RTLEMDRENLSVKIRNLHNVLDSKS 0.0 2:177036373-177036373 C>T 0.0 4298 COLORECTAL - - - - HOXD3 ENST00000410016,p.R224C|ENST00000249440,p.R224C|uc002ukt.1,p.R224C|ENST00000468418,p.R224C|NM_006898,p.R224C protein_coding, processed_transcript uc002ukt.1 nonsynonymous SNV exon3 c.C670T p.R224C EFHFNRYLCRPRRVEMANLLNLTER EFHFNRYLCRPRCVEMANLLNLTER 2.0 8.0 - - 4298_2:177036373-177036373 C>T_EFHFNRYLCRPRCVEMANLLNLTER 0.0 6:32322909-32322909 T>G 0.0 4213 COLORECTAL - - - - C6orf10 NM_001286474,p.N84T|ENST00000533191,p.N84T|uc011dpz.2,p.N84T|ENST00000375015,p.N84T|uc021yvu.1,p.N84T protein_coding uc021yvu.1 nonsynonymous SNV exon8 c.A251C p.N84T RERSKRDYTPSTNSLALSRSSIALP RERSKRDYTPSTTSLALSRSSIALP 1.0 3.0 - - 4213_6:32322909-32322909 T>G_RERSKRDYTPSTTSLALSRSSIALP 0.0 3:69988295-69988295 C>T 1.0 3784 MELANOMA - - - 1 MITF uc011bgb.2,p.P158L|NM_198158,p.P103L|ENST00000448226,p.P210L|uc003doe.3,p.P103L|uc003dob.3,p.P194L|ENST00000451708,p.P194L|NM_198178,p.P47L|ENST00000328528,p.P209L|ENST00000472437,p.P158L|ENST00000314557,p.P103L|ENST00000352241,p.P210L|uc021xam.1,p.P47L|NM_198159,p.P210L|NM_000248,p.P103L|uc003doa.3,p.P209L|uc003dnz.3,p.P210L|NM_001184967,p.P158L|ENST00000394355,p.P185L|uc003dof.3,p.P103L|ENST00000433517,p.P102L|ENST00000531774,p.P47L|NM_006722,p.P209L|ENST00000314589,p.P194L|ENST00000394351,p.P103L|NM_198177,p.P194L protein_coding, processed_transcript, nonsense_mediated_decay uc021xam.1 nonsynonymous SNV exon3 c.C140T p.P47L KFEEQNRAESECPGMNTHSRASCMQ KFEEQNRAESECLGMNTHSRASCMQ 10.0 2.0 - - 3784_3:69988295-69988295 C>T_KFEEQNRAESECLGMNTHSRASCMQ 0.0 16:21261309-21261309 A>C 1.0 4345 COLORECTAL - - - - ANKS4B ENST00000311620,p.K141T|uc010bwp.1,p.K141T|NM_145865,p.K141T protein_coding uc010bwp.1 nonsynonymous SNV exon2 c.A422C p.K141T PKKVTRLKEQAQKNARRQIKECERL PKKVTRLKEQAQTNARRQIKECERL 5.0 3.0 - - 4345_16:21261309-21261309 A>C_PKKVTRLKEQAQTNARRQIKECERL 0.0 16:53691499-53691499 C>A 1.0 4345 COLORECTAL - - - - RPGRIP1L uc010vgy.2,p.V483L|ENST00000563746,p.V483L|uc010cbx.3,p.V483L|NM_001127897,p.V483L|ENST00000379925,p.V483L|NM_015272,p.V483L|ENST00000564374,p.V483L|ENST00000262135,p.V483L|uc002eho.4,p.V483L|uc002ehp.3,p.V483L|uc010vgz.1,p.V483L retained_intron, protein_coding, processed_transcript uc010vgz.1 nonsynonymous SNV exon13 c.G1447T p.V483L EQKNGDLSFLVKVDSEINKDLERSM EQKNGDLSFLVKLDSEINKDLERSM 6.0 10.0 - - 4345_16:53691499-53691499 C>A_EQKNGDLSFLVKLDSEINKDLERSM 0.0 16:1816385-1816385 C>T 1.0 4189 MELANOMA - - - - MAPK8IP3 NM_015133,p.P931S|uc010uvl.2,p.P932S|NM_001040439,p.P925S|ENST00000356010,p.P925S|uc021tah.1,p.P925S|ENST00000250894,p.P931S|uc002cmk.3,p.P931S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021tah.1 nonsynonymous SNV exon21 c.C2773T p.P925S LTEHVFTDPAPTPSSGPQPGSENGP LTEHVFTDPAPTSSSGPQPGSENGP 8.0 8.0 - - 4189_16:1816385-1816385 C>T_LTEHVFTDPAPTSSSGPQPGSENGP 0.0 9:22451852-22451852 G>T 0.0 4281 COLORECTAL - - - - DMRTA1 NM_022160,p.S486I|ENST00000325870,p.S486I|uc003zpp.1,p.S486I protein_coding uc003zpp.1 nonsynonymous SNV exon2 c.G1457T p.S486I FSGMIRDSSYLSSKDSITCGRLYFR FSGMIRDSSYLSIKDSITCGRLYFR 3.0 10.0 - - 4281_9:22451852-22451852 G>T_FSGMIRDSSYLSIKDSITCGRLYFR 0.0 16:4802625-4802625 G>A 1.0 3879 MELANOMA - - - - ZNF500 uc002cxo.1,p.H191Y|ENST00000545009,p.H399Y|NM_021646,p.H399Y|uc002cxp.1,p.H399Y|uc010uxt.1,p.H399Y|ENST00000219478,p.H399Y protein_coding, processed_transcript, nonsense_mediated_decay uc010uxt.1 nonsynonymous SNV exon6 c.C1195T p.H399Y GKRFSQSSSLVIHRRTHSGERPYAC GKRFSQSSSLVIYRRTHSGERPYAC 6.0 8.0 - - 3879_16:4802625-4802625 G>A_GKRFSQSSSLVIYRRTHSGERPYAC 0.0 3:121591404-121591404 C>G 1.0 2556 MELANOMA - - ID=COSM4157173;OCCURENCE=1(thyroid) - EAF2 NM_018456,p.L169V|uc003eeo.3,p.L39V|ENST00000273668,p.L169V|uc003een.3,p.L169V|ENST00000451944,p.L169V protein_coding, processed_transcript, nonsense_mediated_decay uc003eeo.3 nonsynonymous SNV exon4 c.C115G p.L39V DDIERELKAEASLMDQMSSCDSSSD DDIERELKAEASVMDQMSSCDSSSD 5.0 6.0 - - 2556_3:121591404-121591404 C>G_DDIERELKAEASVMDQMSSCDSSSD 0.0 20:20144845-20144845 T>G 0.0 4278 COLORECTAL - - - - CFAP61 NM_001167816,p.F393C|ENST00000451767,p.F393C|ENST00000377306,p.F393C|ENST00000340348,p.F347C|uc010zsf.1,p.F393C|uc010zse.2,p.F393C|ENST00000245957,p.F393C|uc002wru.3,p.F393C|NM_015585,p.F393C|uc010gcw.2,p.F347C protein_coding, processed_transcript, nonsense_mediated_decay uc010zsf.1 nonsynonymous SNV exon10 c.T1178G p.F393C YRGASAAFCIQLFCIDEKYEARSLD YRGASAAFCIQLCCIDEKYEARSLD 4.0 3.0 - - 4278_20:20144845-20144845 T>G_YRGASAAFCIQLCCIDEKYEARSLD 0.0 X:122866860-122866860 C>G 0.0 4186 BREAST - - - - THOC2 ENST00000245838,p.A5P|ENST00000433883,p.A5P|ENST00000472687,p.A5P|NM_001081550,p.A5P|ENST00000355725,p.A5P|uc004etu.3,p.A5P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004etu.3 nonsynonymous SNV exon1 c.G13C p.A5P MAAAAVVVPAEWIKNWE MAAAPVVVPAEWIKNWE 8.0 10.0 - - 4186_X:122866860-122866860 C>G_MAAAPVVVPAEWIKNWE 0.0 1:9801223-9801223 G>A 1.0 3713 MELANOMA - - ID=COSM415207;OCCURENCE=1(urinary_tract) - CLSTN1 uc001aqh.3,p.S483F|ENST00000435891,p.S303F|ENST00000377298,p.S483F|uc010oag.2,p.S483F|ENST00000377288,p.S483F|uc001aqi.3,p.S473F|NM_014944,p.S473F|ENST00000361311,p.S473F|NM_001009566,p.S483F protein_coding, processed_transcript uc010oag.2 nonsynonymous SNV exon10 c.C1448T p.S483F TLYVDGTSHEPFSVTEDYPLHPSKI TLYVDGTSHEPFFVTEDYPLHPSKI 9.0 1.0 - - 3713_1:9801223-9801223 G>A_TLYVDGTSHEPFFVTEDYPLHPSKI 0.0 11:61571221-61571221 T>C 1.0 4326 BREAST - - - - FADS1 uc010rln.1,p.T217A|uc010rlm.2,p.T358A|uc001nsh.3,p.T217A|ENST00000539999,p.T87A|ENST00000542506,p.T217A|ENST00000350997,p.T358A|ENST00000536991,p.T49A|NM_013402,p.T358A|ENST00000433932,p.T217A protein_coding, processed_transcript, nonsense_mediated_decay uc010rln.1 nonsynonymous SNV exon8 c.A649G p.T217A QRKKWVDLAWMITFYVRFFLTYVPL QRKKWVDLAWMIAFYVRFFLTYVPL 8.0 3.0 - - 4326_11:61571221-61571221 T>C_QRKKWVDLAWMIAFYVRFFLTYVPL 0.0 14:21762902-21762902 T>G 0.0 4160 COLORECTAL - - - - RPGRIP1 ENST00000557771,p.F51C|ENST00000556336,p.F51C|ENST00000400017,p.F51C|ENST00000206660,p.F51C|NM_020366,p.F51C|uc001wag.3,p.F51C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001wag.3 nonsynonymous SNV exon2 c.T152G p.F51C SRMNREELEDSFFRLREDHMLVKEL SRMNREELEDSFCRLREDHMLVKEL 3.0 3.0 - - 4160_14:21762902-21762902 T>G_SRMNREELEDSFCRLREDHMLVKEL 0.0 7:44924376-44924376 T>C 1.0 3466 MELANOMA - - - - PURB uc003tme.3,p.D191G|ENST00000395699,p.D191G|NM_033224,p.D191G protein_coding uc003tme.3 nonsynonymous SNV exon1 c.A572G p.D191G LIEFRDALAKLIDDYGGEDDELAGG LIEFRDALAKLIGDYGGEDDELAGG 9.0 8.0 - - 3466_7:44924376-44924376 T>C_LIEFRDALAKLIGDYGGEDDELAGG 0.0 5:80382676-80382676 G>A 0.0 3795 MELANOMA - - - - RASGRF2 NM_006909,p.D432N|uc003kha.2,p.D432N|uc003khb.1,p.D260N|ENST00000503795,p.D432N|ENST00000265080,p.D432N protein_coding, processed_transcript, nonsense_mediated_decay uc003khb.1 nonsynonymous SNV exon6 c.G778A p.D260N EELSRVMHDEVSDTENIRKNLAIER EELSRVMHDEVSNTENIRKNLAIER 4.0 10.0 - - 3795_5:80382676-80382676 G>A_EELSRVMHDEVSNTENIRKNLAIER 0.0 4:54218799-54218799 T>C 1.0 4245 COLORECTAL - - - - SCFD2 ENST00000401642,p.N325D|ENST00000388940,p.N325D|NM_152540,p.N325D|uc003gzu.3,p.N325D|uc010igm.3,p.N325D protein_coding uc010igm.3 nonsynonymous SNV exon2 c.A973G p.N325D ALTALHTEEENYNVVAPGCLSQSSD ALTALHTEEENYDVVAPGCLSQSSD 7.0 5.0 - - 4245_4:54218799-54218799 T>C_ALTALHTEEENYDVVAPGCLSQSSD 0.0 12:129559153-129559153 G>A 0.0 4095 COLORECTAL - - - - TMEM132D uc001uia.2,p.T394M|NM_133448,p.T856M|uc009zyl.1,p.T856M|ENST00000389441,p.T394M|ENST00000422113,p.T856M protein_coding uc009zyl.1 nonsynonymous SNV exon9 c.C2567T p.T856M SSSMGLMEGRGTTTDRSILQKKKGQ SSSMGLMEGRGTMTDRSILQKKKGQ 2.0 9.0 - - 4095_12:129559153-129559153 G>A_SSSMGLMEGRGTMTDRSILQKKKGQ 0.0 14:52433353-52433353 C>T 0.0 4275 COLORECTAL 0.0005 - ID=COSM123400;OCCURENCE=1(lung),1(central_nervous_system),1(upper_aerodigestive_tract) - GNG2 uc001wzi.3,p.P55L|ENST00000555472,p.P55L|uc021rte.1,p.P55L|NM_001243773,p.P55L|uc001wzk.3,p.P55L|ENST00000556766,p.P55L|ENST00000554736,p.P55L|uc001wzj.3,p.P55L|ENST00000553432,p.P86L|NM_053064,p.P55L|ENST00000556752,p.P55L|ENST00000557376,p.P94L|ENST00000335281,p.P55L|NM_001243774,p.P55L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021rte.1 nonsynonymous SNV exon4 c.C164T p.P55L AHAKEDPLLTPVPASENPFREKKFF AHAKEDPLLTPVLASENPFREKKFF 6.0 6.0 - - 4275_14:52433353-52433353 C>T_AHAKEDPLLTPVLASENPFREKKFF 0.0 12:113402091-113402091 G>A 1.0 4000 MELANOMA - - - - OAS3 ENST00000228928,p.E761K|NM_006187,p.E761K|uc001tug.3,p.E761K retained_intron, protein_coding, processed_transcript uc001tug.3 nonsynonymous SNV exon11 c.G2281A p.E761K QTPAGDLDKFISEFLQPNRQFLAQV QTPAGDLDKFISKFLQPNRQFLAQV 9.0 10.0 - - 4000_12:113402091-113402091 G>A_QTPAGDLDKFISKFLQPNRQFLAQV 0.0 15:89382166-89382166 G>A 0.0 3775 CERVICAL - - - - ACAN uc010upp.1,p.D115N|ENST00000561243,p.D115N|ENST00000558207,p.D115N|NM_013227,p.D115N|uc010upo.1,p.D115N|ENST00000439576,p.D115N|NM_001135,p.D115N|uc002bmx.3,p.D115N|ENST00000352105,p.D115N|ENST00000559004,p.D115N retained_intron, protein_coding uc010upp.1 nonsynonymous SNV exon3 c.G343A p.D115N KVSLPNYPAIPSDATLEVQSLRSND KVSLPNYPAIPSNATLEVQSLRSND 4.0 9.0 - - 3775_15:89382166-89382166 G>A_KVSLPNYPAIPSNATLEVQSLRSND 0.0 4:73957853-73957853 G>A 1.0 4189 MELANOMA - - - - ANKRD17 uc003hgr.3,p.S1830F|ENST00000330838,p.S1580F|uc003hgp.3,p.S1831F|uc003hgq.3,p.S1580F|NM_001286771,p.S1718F|ENST00000509867,p.S1718F|NM_032217,p.S1831F|NM_198889,p.S1580F|ENST00000358602,p.S1831F|uc003hgo.3,p.S1718F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003hgr.3 nonsynonymous SNV exon29 c.C5489T p.S1830F GSSAPTTTAANTSLMGIKMTTVALS GSSAPTTTAANTFLMGIKMTTVALS 10.0 1.0 - - 4189_4:73957853-73957853 G>A_GSSAPTTTAANTFLMGIKMTTVALS 0.0 X:118723545-118723545 G>A 1.0 4266 COLORECTAL - - ID=COSM1113886,COSM1598786;OCCURENCE=1(endometrium) - NKRF ENST00000542113,p.R630C|NM_001173488,p.R615C|uc004erq.3,p.R615C|NM_017544,p.R615C|ENST00000304449,p.R615C|uc022cdk.1,p.R630C|NM_001173487,p.R630C|uc004err.3,p.R615C|ENST00000371527,p.R615C protein_coding, processed_transcript uc022cdk.1 nonsynonymous SNV exon4 c.C1888T p.R630C KRDIEQIIRNYARSESHTDLTFSRE KRDIEQIIRNYACSESHTDLTFSRE 6.0 3.0 - - 4266_X:118723545-118723545 G>A_KRDIEQIIRNYACSESHTDLTFSRE 0.0 10:50315822-50315822 G>A 0.0 4278 COLORECTAL - - - - VSTM4 NM_144984,p.R92C|ENST00000332853,p.R92C|uc001jhf.2,p.R92C|uc001jhh.2,p.R92C|NM_001031746,p.R92C|ENST00000298454,p.R92C protein_coding, processed_transcript uc001jhh.2 nonsynonymous SNV exon2 c.C274T p.R92C KLRVVQYYGNFSRSAKRRRLRLLEE KLRVVQYYGNFSCSAKRRRLRLLEE 4.0 7.0 - - 4278_10:50315822-50315822 G>A_KLRVVQYYGNFSCSAKRRRLRLLEE 0.0 9:139976454-139976454 C>T 1.0 3713 MELANOMA - - - - UAP1L1 ENST00000409858,p.P457S|uc010ncb.3,p.P457S|uc004cla.4,p.P334S|NM_207309,p.P457S|ENST00000360271,p.P334S retained_intron, protein_coding, processed_transcript uc010ncb.3 nonsynonymous SNV exon8 c.C1369T p.P457S AHGAWLPELPSLPPNGDPPAICEIS AHGAWLPELPSLSPNGDPPAICEIS 8.0 4.0 - - 3713_9:139976454-139976454 C>T_AHGAWLPELPSLSPNGDPPAICEIS 0.0 4:20535275-20535275 C>T 0.0 4069 PANCREATIC 0.0005 - - - SLIT2 ENST00000503823,p.T582M|uc003gpr.1,p.T590M|NM_004787,p.T590M|uc003gps.1,p.T582M|NM_001289135,p.T586M|ENST00000504154,p.T590M|ENST00000273739,p.T594M|ENST00000503837,p.T586M|NM_001289136,p.T582M retained_intron, protein_coding, processed_transcript uc003gps.1 nonsynonymous SNV exon17 c.C1745T p.T582M FEGASGVNEILLTSNRLENVQHKMF FEGASGVNEILLMSNRLENVQHKMF 5.0 4.0 - - 4069_4:20535275-20535275 C>T_FEGASGVNEILLMSNRLENVQHKMF 0.0 17:64785081-64785081 C>T 1.0 3713 MELANOMA - - - - PRKCA ENST00000413366,p.P613L|NM_002737,p.P613L|uc002jfp.1,p.P613L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002jfp.1 nonsynonymous SNV exon16 c.C1838T p.P613L DWEKLENREIQPPFKPKVCGKGAEN DWEKLENREIQPLFKPKVCGKGAEN 6.0 10.0 - - 3713_17:64785081-64785081 C>T_DWEKLENREIQPLFKPKVCGKGAEN 0.0 X:56310789-56310789 A>T 0.0 4259 COLORECTAL - - - - KLF8 uc004dur.3,p.K314N|ENST00000468660,p.K314N|NM_007250,p.K314N|uc031tjs.1,p.K230N retained_intron, protein_coding, nonsense_mediated_decay uc031tjs.1 nonsynonymous SNV exon4 c.A690T p.K230N KPYKCTWDGCSWKFARSDELTRHFR KPYKCTWDGCSWNFARSDELTRHFR 4.0 4.0 - - 4259_X:56310789-56310789 A>T_KPYKCTWDGCSWNFARSDELTRHFR 0.0 5:13901543-13901543 C>T 0.0 4346 COLORECTAL - - - - DNAH5 NM_001369,p.A624T|uc003jfd.2,p.A624T|ENST00000265104,p.A624T retained_intron, protein_coding, processed_transcript uc003jfd.2 nonsynonymous SNV exon14 c.G1870A p.A624T YDPPLARNQPPIAGKILWARQLFHR YDPPLARNQPPITGKILWARQLFHR 4.0 7.0 - - 4346_5:13901543-13901543 C>T_YDPPLARNQPPITGKILWARQLFHR 0.0 22:50944502-50944502 G>A 1.0 4155 MELANOMA - - - - LMF2 uc003blo.2,p.P221S|uc003blp.2,p.P246S|NM_033200,p.P246S|ENST00000216080,p.P221S|ENST00000380796,p.P246S|ENST00000474879,p.P246S retained_intron, protein_coding, processed_transcript uc003blp.2 nonsynonymous SNV exon5 c.C736T p.P246S LIEIAVPPLFFAPIRRLRLAAFYSQ LIEIAVPPLFFASIRRLRLAAFYSQ 10.0 7.0 - - 4155_22:50944502-50944502 G>A_LIEIAVPPLFFASIRRLRLAAFYSQ 0.0 15:45657018-45657018 G>A 1.0 3879 MELANOMA - - - - GATM uc001zvb.3,p.P211L|ENST00000558336,p.P340L|uc010uev.1,p.P393L|ENST00000396659,p.P340L|uc001zvc.3,p.P340L|NM_001482,p.P340L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010uev.1 nonsynonymous SNV exon7 c.C1178T p.P393L DLFKKAGWTIITPPTPIIPDDHPLW DLFKKAGWTIITLPTPIIPDDHPLW 5.0 9.0 - - 3879_15:45657018-45657018 G>A_DLFKKAGWTIITLPTPIIPDDHPLW 0.0 19:58879856-58879856 G>A 1.0 4281 COLORECTAL - - - - ZNF837 ENST00000597582,p.R282C|NM_138466,p.R282C|ENST00000427624,p.R282C|uc002qsl.4,p.R282C|uc021vcx.1,p.R282C|uc002qsm.3,p.R282C protein_coding uc021vcx.1 nonsynonymous SNV exon1 c.C844T p.R282C LYACDECGKAFTRTSSLLQHQRIHT LYACDECGKAFTCTSSLLQHQRIHT 5.0 5.0 - - 4281_19:58879856-58879856 G>A_LYACDECGKAFTCTSSLLQHQRIHT 0.0 10:92508939-92508939 T>C 0.0 4281 COLORECTAL - - - - HTR7 ENST00000277874,p.I318V|uc001kgz.3,p.I318V|ENST00000371719,p.I318V|ENST00000371721,p.I318V|NM_019859,p.I318V|uc001kha.3,p.I318V|ENST00000336152,p.I318V|NM_000872,p.I318V|NM_019860,p.I318V|uc001khb.3,p.I318V protein_coding uc001khb.3 nonsynonymous SNV exon2 c.A952G p.I318V SRLLKHERKNISIFKREQKAATTLG SRLLKHERKNISVFKREQKAATTLG 2.0 8.0 - - 4281_10:92508939-92508939 T>C_SRLLKHERKNISVFKREQKAATTLG 0.0 3:42597481-42597481 G>A 1.0 3713 MELANOMA - - - - SEC22C ENST00000264454,p.H218Y|ENST00000417572,p.H218Y|NM_032970,p.H218Y|uc003cli.3,p.H218Y|uc011azo.2,p.H148Y|uc003clj.3,p.H218Y|NM_004206,p.H218Y|ENST00000456515,p.H218Y|ENST00000536332,p.H148Y|NM_001201572,p.H218Y|ENST00000273156,p.H218Y|uc003clh.3,p.H218Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011azo.2 nonsynonymous SNV exon7 c.C442T p.H148Y GVHLAEHSLQVAHEEIGNILAFLVP GVHLAEHSLQVAYEEIGNILAFLVP 9.0 8.0 CD8 - 3713_3:42597481-42597481 G>A_GVHLAEHSLQVAYEEIGNILAFLVP 1.0 19:39068825-39068825 G>T 1.0 4234 NSCLC - - - - RYR1 NM_001042723,p.G4777V|ENST00000360985,p.G4777V|ENST00000359596,p.G4782V|uc002oit.3,p.G4782V|uc002oiu.3,p.G4777V|NM_000540,p.G4782V|ENST00000355481,p.G4777V retained_intron, protein_coding, nonsense_mediated_decay uc002oiu.3 nonsynonymous SNV exon98 c.G14330T p.G4777V MSIDVKYQIWKFGVIFTDNSFLYLG MSIDVKYQIWKFVVIFTDNSFLYLG 7.0 1.0 - - 4234_19:39068825-39068825 G>T_MSIDVKYQIWKFVVIFTDNSFLYLG 0.0 5:90079758-90079758 C>T 0.0 3795 MELANOMA - - - - GPR98 uc003kju.3,p.P4513S|NM_032119,p.P4513S|ENST00000405460,p.P4513S|uc003kjw.3,p.P174S|ENST00000425867,p.P174S retained_intron, protein_coding, processed_transcript uc003kjw.3 nonsynonymous SNV exon3 c.C520T p.P174S LVSRIIIAKSDSPFGVIRFLNQSKI LVSRIIIAKSDSSFGVIRFLNQSKI 5.0 10.0 - - 3795_5:90079758-90079758 C>T_LVSRIIIAKSDSSFGVIRFLNQSKI 0.0 11:111853103-111853103 G>A 1.0 4326 BREAST - - - - DIXDC1 uc001pmm.3,p.G59E|uc001pml.3,p.G270E retained_intron, protein_coding, processed_transcript uc001pmm.3 nonsynonymous SNV exon3 c.G176A p.G59E GTDSPLSRDWRPGSPGTYLETSWEE GTDSPLSRDWRPESPGTYLETSWEE 8.0 7.0 - - 4326_11:111853103-111853103 G>A_GTDSPLSRDWRPESPGTYLETSWEE 0.0 9:123902994-123902994 C>T 1.0 4329 COLORECTAL 0.0005 - - 1 CNTRL uc004bky.1,p.R409C|NM_007018,p.R805C|ENST00000373855,p.R805C|ENST00000238341,p.R805C|uc004bkz.1,p.R253C|ENST00000373850,p.R253C|uc004bla.1,p.R253C|ENST00000373847,p.R253C|uc004bkx.1,p.R805C protein_coding, processed_transcript uc004bla.1 nonsynonymous SNV exon6 c.C757T p.R253C QNHLNHVVDGLVRPEEVAARVDELR QNHLNHVVDGLVCPEEVAARVDELR 7.0 8.0 - - 4329_9:123902994-123902994 C>T_QNHLNHVVDGLVCPEEVAARVDELR 0.0 X:47082985-47082985 A>G 1.0 4320 COLORECTAL - - - - CDK16 NM_001170460,p.Q84R|ENST00000276052,p.Q84R|uc011mll.2,p.Q84R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011mll.2 nonsynonymous SNV exon2 c.A251G p.Q84R QIAMDRMKKIKRQLSMTLRGGRGID QIAMDRMKKIKRRLSMTLRGGRGID 10.0 1.0 - - 4320_X:47082985-47082985 A>G_QIAMDRMKKIKRRLSMTLRGGRGID 0.0 15:78526785-78526785 T>G 0.0 4298 COLORECTAL - - - - ACSBG1 NM_015162,p.D20A|ENST00000560124,p.D20A|ENST00000258873,p.D20A|uc002bdh.3,p.D20A|uc010umw.2,p.D20A|ENST00000558130,p.D20A|NM_001199377,p.D20A|ENST00000559707,p.D20A|ENST00000557935,p.D20A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010umw.2 nonsynonymous SNV exon1 c.A59C p.D20A GYGCPHGDPSMLDSRETPQESRQDM GYGCPHGDPSMLASRETPQESRQDM 2.0 4.0 - - 4298_15:78526785-78526785 T>G_GYGCPHGDPSMLASRETPQESRQDM 0.0 3:97983843-97983843 T>C 0.0 4110 BILE DUCT - - - - OR5H6 uc003dsi.1,p.F239L|NM_001005479,p.F239L|ENST00000383696,p.F239L protein_coding uc003dsi.1 nonsynonymous SNV exon1 c.T715C p.F239L IGTILISYTIILFTILEKKSIKGIR IGTILISYTIILLTILEKKSIKGIR 1.0 5.0 - - 4110_3:97983843-97983843 T>C_IGTILISYTIILLTILEKKSIKGIR 0.0 16:57608879-57608879 A>G 0.0 4077 BILE DUCT - - - - GPR114 uc010vhr.2,p.M415V retained_intron, protein_coding, processed_transcript uc010vhr.2 nonsynonymous SNV exon10 c.A1243G p.M415V GSGRMHQVSGPAMTLSLCWASPCCW GSGRMHQVSGPAVTLSLCWASPCCW 4.0 4.0 - - 4077_16:57608879-57608879 A>G_GSGRMHQVSGPAVTLSLCWASPCCW 0.0 14:21463019-21463019 G>A 1.0 3775 CERVICAL - - ID=COSM432821;OCCURENCE=1(breast) - METTL17 uc001vyo.3,p.E279K|ENST00000339374,p.E279K|uc001vym.3,p.E279K|uc001vyn.3,p.E279K|ENST00000556670,p.E279K|NM_022734,p.E279K|NM_001029991,p.E279K|ENST00000382985,p.E279K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001vyo.3 nonsynonymous SNV exon9 c.G835A p.E279K SLSELPSKADRTEVVQTLWRKTGHF SLSELPSKADRTKVVQTLWRKTGHF 10.0 10.0 CD8 - 3775_14:21463019-21463019 G>A_SLSELPSKADRTKVVQTLWRKTGHF 1.0 3:112282377-112282377 G>A 1.0 4213 COLORECTAL - - - - SLC35A5 ENST00000468642,p.E43K|ENST00000261034,p.E43K|NM_017945,p.E43K|uc003dze.4,p.E43K|ENST00000492406,p.E43K|ENST00000484995,p.E43K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003dze.4 nonsynonymous SNV exon2 c.G127A p.E43K SSRILLVKYSANEENKYDYLPTTVN SSRILLVKYSANKENKYDYLPTTVN 8.0 5.0 - - 4213_3:112282377-112282377 G>A_SSRILLVKYSANKENKYDYLPTTVN 0.0 13:115090798-115090798 C>T 1.0 3919 MELANOMA - - - - CHAMP1 NM_032436,p.P494L|uc010ahb.3,p.P494L|uc021rmx.1,p.P494L|uc010tko.2,p.P494L|NM_001164144,p.P494L|uc001vuv.3,p.P494L|ENST00000361283,p.P494L|NM_001164145,p.P494L protein_coding, processed_transcript uc021rmx.1 nonsynonymous SNV exon1 c.C1481T p.P494L SSFFIEPQKPVFPETRKPGPSGPSE SSFFIEPQKPVFLETRKPGPSGPSE 10.0 7.0 - - 3919_13:115090798-115090798 C>T_SSFFIEPQKPVFLETRKPGPSGPSE 0.0 X:47836253-47836253 G>T 1.0 3919 MELANOMA - - - - ZNF182 NM_006962,p.F411L|NM_001178099,p.F411L|ENST00000305127,p.F411L|ENST00000376943,p.F392L|uc004dir.3,p.F411L|NM_001007088,p.F392L|uc004dis.3,p.F392L|uc004dit.3,p.F411L|ENST00000396965,p.F411L protein_coding uc004dit.3 nonsynonymous SNV exon7 c.C1233A p.F411L EKPHKCTECGKSFNEKSTLIVHQRT EKPHKCTECGKSLNEKSTLIVHQRT 4.0 9.0 - - 3919_X:47836253-47836253 G>T_EKPHKCTECGKSLNEKSTLIVHQRT 0.0 6:136500196-136500196 G>A 1.0 3713 MELANOMA - - - - PDE7B ENST00000308191,p.E289K|NM_018945,p.E289K|uc003qgr.3,p.E341K|uc003qgp.3,p.E289K protein_coding uc003qgr.3 nonsynonymous SNV exon9 c.G1021A p.E341K SLILATDINRQNEFLTRLKAHLHNK SLILATDINRQNKFLTRLKAHLHNK 2.0 10.0 - - 3713_6:136500196-136500196 G>A_SLILATDINRQNKFLTRLKAHLHNK 0.0 11:67168211-67168211 C>T 1.0 2359 MELANOMA - - - - PPP1CA ENST00000358239,p.G79R|uc001okx.1,p.G211R|ENST00000527663,p.G123R|NM_206873,p.G79R|uc001oku.1,p.G134R|uc001okw.1,p.G123R|ENST00000376745,p.G123R|uc001okv.1,p.G79R|NM_001008709,p.G134R|NM_002708,p.G123R|ENST00000312989,p.G134R retained_intron, protein_coding, processed_transcript uc001okx.1 nonsynonymous SNV exon4 c.G631A p.G211R KIKYPENFFLLRGNHECASINRIYG KIKYPENFFLLRRNHECASINRIYG 10.0 4.0 - - 2359_11:67168211-67168211 C>T_KIKYPENFFLLRRNHECASINRIYG 0.0 18:61600354-61600354 G>T 0.0 4266 COLORECTAL - - - - SERPINB10 ENST00000238508,p.A236S|uc010xew.2,p.A236S|NM_005024,p.A236S|uc010xev.2,p.A236S protein_coding uc010xew.2 nonsynonymous SNV exon6 c.G706T p.A236S KKLHIFHIEKPKAVGLQLYYKSRDL KKLHIFHIEKPKSVGLQLYYKSRDL 1.0 6.0 - - 4266_18:61600354-61600354 G>T_KKLHIFHIEKPKSVGLQLYYKSRDL 0.0 19:41930509-41930509 A>C 0.0 4081 COLORECTAL - - - - BCKDHA ENST00000457836,p.K448T|uc002oqq.3,p.K445T|ENST00000595085,p.K479T|uc002oqm.4,p.K479T|uc010xvz.2,p.K448T|NM_001164783,p.K444T|NM_000709,p.K445T|ENST00000540732,p.K479T|ENST00000269980,p.K445T|uc002oqr.3,p.K444T protein_coding, processed_transcript,retained_intron uc010xvz.2 nonsynonymous SNV exon9 c.A1343C p.K448T TYGEHYPLDHFDK TYGEHYPLDHFDT 5.0 3.0 - - 4081_19:41930509-41930509 A>C_TYGEHYPLDHFDT 0.0 8:27097502-27097502 G>A 0.0 4298 COLORECTAL - - - - STMN4 ENST00000519614,p.R166W|uc010luo.3,p.R166W|uc011lak.2,p.R193W|ENST00000522908,p.R193W retained_intron, protein_coding uc011lak.2 nonsynonymous SNV exon6 c.C577T p.R193W ENREAHLAAMLERLQEKVRGPWLER ENREAHLAAMLEWLQEKVRGPWLER 2.0 7.0 - - 4298_8:27097502-27097502 G>A_ENREAHLAAMLEWLQEKVRGPWLER 0.0 21:30325541-30325541 G>C 1.0 2556 MELANOMA - - - - LTN1 NM_015565,p.N1125K|ENST00000389194,p.N1125K|ENST00000361371,p.N1079K|uc002ymr.2,p.N1125K protein_coding, processed_transcript uc002ymr.2 nonsynonymous SNV exon17 c.C3375G p.N1125K LGNTSGLLQLLFNRSREHGTLWSLI LGNTSGLLQLLFKRSREHGTLWSLI 7.0 6.0 - - 2556_21:30325541-30325541 G>C_LGNTSGLLQLLFKRSREHGTLWSLI 0.0 2:101611938-101611938 C>T 1.0 2591 MELANOMA - - - - NPAS2 ENST00000335681,p.T790I|NM_002518,p.T790I|uc002tap.1,p.T790I|uc010yvt.1,p.T855I|ENST00000542504,p.T855I retained_intron, protein_coding, processed_transcript uc010yvt.1 nonsynonymous SNV exon21 c.C2564T p.T855I SLLLSTYSQQPGTLGYPQPPPAQPQ SLLLSTYSQQPGILGYPQPPPAQPQ 9.0 10.0 - - 2591_2:101611938-101611938 C>T_SLLLSTYSQQPGILGYPQPPPAQPQ 0.0 3:185329500-185329500 G>A 1.0 4095 COLORECTAL - - - - SENP2 NM_021627,p.G262R|ENST00000545472,p.G252R|uc003fpn.3,p.G262R|ENST00000296257,p.G262R|uc011brw.2,p.G75R|ENST00000427465,p.G86R|uc011brv.2,p.G252R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011brw.2 nonsynonymous SNV exon7 c.G223A p.G75R LKTKGWGEEQNHGVKTTQFVPKQYR LKTKGWGEEQNHRVKTTQFVPKQYR 9.0 8.0 - - 4095_3:185329500-185329500 G>A_LKTKGWGEEQNHRVKTTQFVPKQYR 0.0 18:61390297-61390297 A>C 0.0 4298 COLORECTAL - - - - SERPINB11 uc010dqd.3,p.E167D|NM_001291279,p.E106D|uc002ljj.4,p.E167D|uc010xes.2,p.E106D|ENST00000536691,p.E106D|uc010dqe.3,p.E80D|ENST00000538847,p.E79D|uc010dqf.3,p.E79D protein_coding, processed_transcript, polymorphic_pseudogene uc010xes.2 nonsynonymous SNV exon7 c.A318C p.E106D HEWTSSSNMMEREVEVHLPRFKLET HEWTSSSNMMERDVEVHLPRFKLET 1.0 6.0 - - 4298_18:61390297-61390297 A>C_HEWTSSSNMMERDVEVHLPRFKLET 0.0 11:32954080-32954080 C>T 1.0 3678 MELANOMA - - - - QSER1 uc001mty.3,p.P297S|ENST00000399302,p.P297S|NM_001076786,p.P297S retained_intron, protein_coding, processed_transcript uc001mty.3 nonsynonymous SNV exon4 c.C889T p.P297S TEQPLTSTKTPKPQSIIPPVQTLSY TEQPLTSTKTPKSQSIIPPVQTLSY 9.0 2.0 - - 3678_11:32954080-32954080 C>T_TEQPLTSTKTPKSQSIIPPVQTLSY 0.0 1:92161261-92161261 G>A 0.0 4346 COLORECTAL - - - - TGFBR3 ENST00000465892,p.T801M|NM_001195683,p.T801M|uc001doi.3,p.T801M|NM_001195684,p.T801M|uc010osy.2,p.T760M|NM_003243,p.T802M|ENST00000212355,p.T802M|uc001doj.3,p.T801M|uc009wde.3,p.T497M|uc001doh.3,p.T802M|ENST00000370399,p.T801M|ENST00000525962,p.T802M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010osy.2 nonsynonymous SNV exon17 c.C2279T p.T760M IAFAAFVIGALLTGALWYIYSHTGE IAFAAFVIGALLMGALWYIYSHTGE 8.0 3.0 - - 4346_1:92161261-92161261 G>A_IAFAAFVIGALLMGALWYIYSHTGE 0.0 21:43327206-43327206 C>T 1.0 3678 MELANOMA - - - - C2CD2 uc002yzx.1,p.E250K|NM_015500,p.E405K|uc002yzt.3,p.E21K|uc002yzv.3,p.E250K|NM_199050,p.E250K|ENST00000380486,p.E405K|uc002yzw.3,p.E405K|uc002yzu.3,p.E237K|ENST00000329623,p.E250K retained_intron, protein_coding, processed_transcript uc002yzx.1 nonsynonymous SNV exon9 c.G748A p.E250K WPIPPPVPAAKIEKDRTVMPCGTVV WPIPPPVPAAKIKKDRTVMPCGTVV 7.0 4.0 - - 3678_21:43327206-43327206 C>T_WPIPPPVPAAKIKKDRTVMPCGTVV 0.0 22:38203981-38203981 C>T 1.0 4301 MELANOMA - - - - GCAT ENST00000248924,p.P3S|ENST00000445195,p.P3S|ENST00000323205,p.P3S|NM_001171690,p.P3S|uc003aua.2,p.P3S|ENST00000426858,p.P3S|uc003atz.3,p.P3S|NM_014291,p.P3S retained_intron, protein_coding, nonsense_mediated_decay uc003aua.2 nonsynonymous SNV exon1 c.C7T p.P3S MWPGNAWRAALFWVP MWSGNAWRAALFWVP 7.0 8.0 - - 4301_22:38203981-38203981 C>T_MWSGNAWRAALFWVP 0.0 15:54305692-54305692 T>C 0.0 4298 COLORECTAL - - - - UNC13C ENST00000537900,p.S198P|ENST00000545554,p.S198P|NM_001080534,p.S198P|uc021sms.1,p.S198P|ENST00000260323,p.S198P|uc021smr.1,p.S198P retained_intron, protein_coding uc021sms.1 nonsynonymous SNV exon1 c.T592C p.S198P KWKKSQECVSSDSELSTMKKSWGIR KWKKSQECVSSDPELSTMKKSWGIR 2.0 1.0 - - 4298_15:54305692-54305692 T>C_KWKKSQECVSSDPELSTMKKSWGIR 0.0 17:33749015-33749015 C>T 1.0 3713 MELANOMA - - - - SLFN12 ENST00000452764,p.E345K|ENST00000304905,p.E345K|uc010cts.3,p.E345K|uc002hjj.4,p.E345K|NM_001289009,p.E345K|uc002hji.4,p.E345K|ENST00000394562,p.E345K|NM_018042,p.E345K retained_intron, protein_coding, processed_transcript uc010cts.3 nonsynonymous SNV exon2 c.G1033A p.E345K TRKEWIQFMVEAEPKFSSSYEEVIS TRKEWIQFMVEAKPKFSSSYEEVIS 5.0 10.0 - - 3713_17:33749015-33749015 C>T_TRKEWIQFMVEAKPKFSSSYEEVIS 0.0 2:157427713-157427713 C>T 1.0 4000 MELANOMA - - - - GPD2 ENST00000409674,p.A559V|ENST00000409861,p.A559V|uc002tzd.4,p.A559V|uc002tzf.4,p.A559V|NM_000408,p.A559V|NM_001083112,p.A559V|ENST00000409125,p.A332V|uc010zch.2,p.A332V|ENST00000310454,p.A559V|ENST00000438166,p.A559V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010zch.2 nonsynonymous SNV exon9 c.C995T p.A332V TAVDMISRRTRLAFLNVQAAEEALP TAVDMISRRTRLVFLNVQAAEEALP 9.0 9.0 CD8 - 4000_2:157427713-157427713 C>T_TAVDMISRRTRLVFLNVQAAEEALP 1.0 1:248737554-248737554 T>C 0.0 4160 COLORECTAL - - - - OR2T34 ENST00000328782,p.M169V|uc001iep.1,p.M169V|NM_001001821,p.M169V protein_coding uc001iep.1 nonsynonymous SNV exon1 c.A505G p.M169V GMVDGLLLTPITMSFPFCQSRKILS GMVDGLLLTPITVSFPFCQSRKILS 1.0 2.0 - - 4160_1:248737554-248737554 T>C_GMVDGLLLTPITVSFPFCQSRKILS 0.0 1:233225846-233225846 G>A 1.0 3466 MELANOMA - - - - PCNXL2 uc001hvl.2,p.S1346L|ENST00000258229,p.S1346L|NM_014801,p.S1346L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001hvl.2 nonsynonymous SNV exon23 c.C4037T p.S1346L LSPFLGSVIFITSYVRPVKFWEKNY LSPFLGSVIFITLYVRPVKFWEKNY 9.0 4.0 - - 3466_1:233225846-233225846 G>A_LSPFLGSVIFITLYVRPVKFWEKNY 0.0 9:125075619-125075619 C>T 1.0 3713 MELANOMA - - - - MRRF NM_138777,p.S222F|ENST00000373729,p.S178F|uc011lyr.2,p.S170F|ENST00000297908,p.S170F|NM_001173512,p.S170F|ENST00000344641,p.S222F|uc010mwa.3,p.S222F protein_coding, nonsense_mediated_decay uc011lyr.2 nonsynonymous SNV exon5 c.C509T p.S170F KVRTNSMNKLKKSKDTVSEDTIRLI KVRTNSMNKLKKFKDTVSEDTIRLI 7.0 5.0 - - 3713_9:125075619-125075619 C>T_KVRTNSMNKLKKFKDTVSEDTIRLI 0.0 13:36900820-36900820 T>A 0.0 4317 COLORECTAL - - - - SPG20 uc010ten.2,p.S384C protein_coding, processed_transcript uc010ten.2 nonsynonymous SNV exon4 c.A1150T p.S384C LDQGNKDAKDTSSEEVNLSHIVPCE LDQGNKDAKDTSCEEVNLSHIVPCE 5.0 5.0 - - 4317_13:36900820-36900820 T>A_LDQGNKDAKDTSCEEVNLSHIVPCE 0.0 16:111675-111675 G>A 1.0 4037 NSCLC - - - - RHBDF1 ENST00000262316,p.L410F|uc010uty.2,p.L433F|ENST00000454039,p.L410F|NM_022450,p.L410F|uc002cfl.4,p.L410F|uc010utz.2,p.L410F retained_intron, protein_coding, nonsense_mediated_decay uc010utz.2 nonsynonymous SNV exon9 c.C1228T p.L410F DMDDHRPFFTYWLTFVHSLVTILAV DMDDHRPFFTYWFTFVHSLVTILAV 8.0 9.0 - - 4037_16:111675-111675 G>A_DMDDHRPFFTYWFTFVHSLVTILAV 0.0 8:90965753-90965753 A>C 1.0 4252 COLORECTAL - - - 1 NBN ENST00000409330,p.L440V|ENST00000265433,p.L522V|NM_002485,p.L522V|uc003yej.1,p.L522V|uc011lgb.1,p.L522V|uc003yei.1,p.L440V retained_intron, protein_coding, nonsense_mediated_decay uc011lgb.1 nonsynonymous SNV exon11 c.T1564G p.L522V ENEPVDTNSDNNLFTDTDLKSIVKN ENEPVDTNSDNNVFTDTDLKSIVKN 8.0 3.0 - - 4252_8:90965753-90965753 A>C_ENEPVDTNSDNNVFTDTDLKSIVKN 0.0 2:130897612-130897612 C>T 1.0 3795 MELANOMA - - - - CCDC74B NM_001258307,p.E246K|ENST00000409943,p.E246K|uc002tqm.2,p.E312K|NM_207310,p.E312K|uc010yzw.2,p.E414K|uc002tqn.2,p.E246K|ENST00000392984,p.E414K|ENST00000310463,p.E312K retained_intron, protein_coding, nonsense_mediated_decay uc010yzw.2 nonsynonymous SNV exon5 c.G1240A p.E414K LEGSQRPQAVPEEASFPRDQEATHF LEGSQRPQAVPEKASFPRDQEATHF 6.0 7.0 - - 3795_2:130897612-130897612 C>T_LEGSQRPQAVPEKASFPRDQEATHF 0.0 8:141460944-141460944 G>A 1.0 3713 MELANOMA - - - - TRAPPC9 ENST00000389328,p.L275F|NM_001160372,p.L177F|uc003yvh.2,p.L275F|ENST00000389327,p.L177F|uc003yvj.2,p.L177F|uc003yvi.1,p.L177F|NM_031466,p.L275F|ENST00000438773,p.L177F retained_intron, protein_coding, processed_transcript uc003yvj.2 nonsynonymous SNV exon2 c.C529T p.L177F DRATDKSGDKIPLLCVPFEKKDFVG DRATDKSGDKIPFLCVPFEKKDFVG 3.0 10.0 - - 3713_8:141460944-141460944 G>A_DRATDKSGDKIPFLCVPFEKKDFVG 0.0 10:1405554-1405554 G>A 0.0 4326 BREAST - - - - ADARB2 uc009xhq.3,p.A249V|ENST00000381312,p.A249V|NM_018702,p.A249V protein_coding, processed_transcript uc009xhq.3 nonsynonymous SNV exon3 c.C746T p.A249V AGGRPGDAALLSAAYGRRRLLCRAL AGGRPGDAALLSVAYGRRRLLCRAL 3.0 2.0 - - 4326_10:1405554-1405554 G>A_AGGRPGDAALLSVAYGRRRLLCRAL 0.0 18:6171859-6171859 T>C 0.0 4078 GASTRIC - - - - L3MBTL4 uc002kmy.4,p.D355G|uc002kmz.4,p.D355G|ENST00000535782,p.D168G|NM_173464,p.D355G|uc010dkt.3,p.D355G|ENST00000317931,p.D355G|ENST00000400105,p.D355G|ENST00000400104,p.D355G|ENST00000284898,p.D355G protein_coding, processed_transcript uc010dkt.3 nonsynonymous SNV exon13 c.A1064G p.D355G ADSPDIHPIGWCDVTGHPLEVPQRT ADSPDIHPIGWCGVTGHPLEVPQRT 4.0 3.0 - - 4078_18:6171859-6171859 T>C_ADSPDIHPIGWCGVTGHPLEVPQRT 0.0 2:27803644-27803644 C>T 0.0 2591 MELANOMA - - - - C2orf16 ENST00000408964,p.P1402L|uc002rkz.4,p.P1402L|NM_032266,p.P1402L protein_coding uc002rkz.4 nonsynonymous SNV exon1 c.C4205T p.P1402L YYPKQNARDYCLPSSIKRDKRSADK YYPKQNARDYCLLSSIKRDKRSADK 3.0 2.0 - - 2591_2:27803644-27803644 C>T_YYPKQNARDYCLLSSIKRDKRSADK 0.0 12:101381399-101381399 G>A 1.0 2556 MELANOMA - - - - ANO4 ENST00000392979,p.E194K|uc010svm.1,p.E229K|uc001thx.2,p.E229K|NM_178826,p.E194K|ENST00000392977,p.E229K|NM_001286616,p.E229K|NM_001286615,p.E229K|uc001thw.2,p.E194K protein_coding, processed_transcript, nonsense_mediated_decay uc010svm.1 nonsynonymous SNV exon8 c.G685A p.E229K PMRLDKETLPDLEENDCYTAPFSQQ PMRLDKETLPDLKENDCYTAPFSQQ 6.0 10.0 - - 2556_12:101381399-101381399 G>A_PMRLDKETLPDLKENDCYTAPFSQQ 0.0 8:73848924-73848924 G>C 0.0 4126 NSCLC - - - - KCNB2 NM_004770,p.R445T|uc003xzb.3,p.R445T|ENST00000523207,p.R445T protein_coding uc003xzb.3 nonsynonymous SNV exon3 c.G1334C p.R445T AIKRREALERAKRNGSIVSMNLKDA AIKRREALERAKTNGSIVSMNLKDA 1.0 6.0 - - 4126_8:73848924-73848924 G>C_AIKRREALERAKTNGSIVSMNLKDA 0.0 15:44127283-44127283 G>A 1.0 4180 BREAST - - ID=COSM3794191;OCCURENCE=1(urinary_tract) - WDR76 uc021skg.1,p.E99K|NM_001167941,p.E99K|uc001zti.2,p.E163K|ENST00000452115,p.E99K|ENST00000263795,p.E163K|NM_024908,p.E163K|ENST00000381246,p.E99K protein_coding, processed_transcript uc021skg.1 nonsynonymous SNV exon3 c.G295A p.E99K TPSLDFSGLSPYERKRLKNISENAD TPSLDFSGLSPYKRKRLKNISENAD 9.0 7.0 - - 4180_15:44127283-44127283 G>A_TPSLDFSGLSPYKRKRLKNISENAD 0.0 15:83735582-83735582 A>T 1.0 4252 COLORECTAL - - - - BTBD1 NM_025238,p.F108I|uc002bjo.3,p.F108I|ENST00000261721,p.F108I|ENST00000379403,p.F108I|NM_001011885,p.F108I|uc002bjn.3,p.F108I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002bjo.3 nonsynonymous SNV exon1 c.T322A p.F108I VLAAGSAVFDAMFNGGMATTSAEIE VLAAGSAVFDAMINGGMATTSAEIE 9.0 4.0 - - 4252_15:83735582-83735582 A>T_VLAAGSAVFDAMINGGMATTSAEIE 0.0 1:53320240-53320240 C>T 0.0 4237 NSCLC - - ID=COSM1343410;OCCURENCE=1(large_intestine),1(pancreas) - ZYG11A NM_001004339,p.P65L|ENST00000371528,p.P65L|uc001cuk.2,p.P65L protein_coding uc001cuk.2 nonsynonymous SNV exon2 c.C194T p.P65L LCSERPDGTLCLPEHWSFPQEVAER LCSERPDGTLCLLEHWSFPQEVAER 4.0 10.0 - - 4237_1:53320240-53320240 C>T_LCSERPDGTLCLLEHWSFPQEVAER 0.0 19:51022018-51022018 C>T 0.0 4281 COLORECTAL - - - - LRRC4B uc002pss.3,p.D318N|ENST00000599957,p.D318N|NM_001080457,p.D318N|ENST00000389201,p.D318N protein_coding uc002pss.3 nonsynonymous SNV exon3 c.G952A p.D318N VHLNHNPWHCNCDVLWLSWWLKETV VHLNHNPWHCNCNVLWLSWWLKETV 4.0 3.0 - - 4281_19:51022018-51022018 C>T_VHLNHNPWHCNCNVLWLSWWLKETV 0.0 19:3449071-3449071 C>T 1.0 3713 MELANOMA - - - - NFIC uc010xhj.2,p.P340S|ENST00000346156,p.P307S|ENST00000443272,p.P340S|NM_001245002,p.P340S|uc010xhi.2,p.P340S|NM_001245004,p.P340S|NM_001245005,p.P331S|uc002lxp.3,p.P340S|ENST00000589123,p.P331S|uc010xhh.2,p.P331S|ENST00000341919,p.P340S|ENST00000586919,p.P307S|NM_205843,p.P331S|NM_005597,p.P340S|ENST00000395111,p.P331S|uc002lxo.3,p.P331S|ENST00000590282,p.P340S retained_intron, protein_coding, processed_transcript uc010xhj.2 nonsynonymous SNV exon7 c.C1018T p.P340S TEMDKSPFNSPSPQDSPRLSSFTQH TEMDKSPFNSPSSQDSPRLSSFTQH 7.0 4.0 - - 3713_19:3449071-3449071 C>T_TEMDKSPFNSPSSQDSPRLSSFTQH 0.0 17:7287840-7287840 T>C 1.0 4037 NSCLC - - - - TNK1 NM_001251902,p.S302P|uc002ggi.4,p.S302P|ENST00000570896,p.S302P|ENST00000311668,p.S302P|uc002ggj.4,p.S302P|NM_003985,p.S302P|ENST00000576812,p.S302P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002ggj.4 nonsynonymous SNV exon7 c.T904C p.S302P CAPESLRHGAFSSASDVWMFGVTLW CAPESLRHGAFSPASDVWMFGVTLW 9.0 3.0 - - 4037_17:7287840-7287840 T>C_CAPESLRHGAFSPASDVWMFGVTLW 0.0 22:43572326-43572326 T>G 1.0 4180 BREAST - - - - TTLL12 NM_015140,p.K306T|ENST00000216129,p.K306T|uc003bdq.3,p.K306T retained_intron, protein_coding, processed_transcript uc003bdq.3 nonsynonymous SNV exon6 c.A917C p.K306T INPVVHPHGHIFKVYTDVQQVASSL INPVVHPHGHIFTVYTDVQQVASSL 10.0 8.0 CD8 - 4180_22:43572326-43572326 T>G_INPVVHPHGHIFTVYTDVQQVASSL 2.0 7:127991332-127991332 C>T 0.0 4213 COLORECTAL - - - - PRRT4 uc022akx.1,p.R415Q|ENST00000489835,p.R415Q|NM_001114726,p.R415Q protein_coding uc022akx.1 nonsynonymous SNV exon6 c.G1244A p.R415Q PGPCLRGRSAWARTLPHRLAGDRGQ PGPCLRGRSAWAQTLPHRLAGDRGQ 2.0 9.0 - - 4213_7:127991332-127991332 C>T_PGPCLRGRSAWAQTLPHRLAGDRGQ 0.0 15:81274493-81274493 G>A 1.0 4189 MELANOMA - - - - MESDC2 ENST00000261758,p.P82S|NM_015154,p.P82S|uc002bfy.1,p.P82S|ENST00000561312,p.P82S protein_coding, processed_transcript, nonsense_mediated_decay uc002bfy.1 nonsynonymous SNV exon2 c.C244T p.P82S WEKDDDIEEGDLPEHKRPSAPVDFS WEKDDDIEEGDLSEHKRPSAPVDFS 9.0 9.0 - - 4189_15:81274493-81274493 G>A_WEKDDDIEEGDLSEHKRPSAPVDFS 0.0 17:57057488-57057488 A>C 1.0 4000 MELANOMA - - - - PPM1E NM_014906,p.K455T|uc010ddd.4,p.K218T|ENST00000308249,p.K455T|uc002iwx.4,p.K455T protein_coding uc010ddd.4 nonsynonymous SNV exon6 c.A653C p.K218T PDEAVKVVSDHLKENNGDSSMVAHK PDEAVKVVSDHLTENNGDSSMVAHK 5.0 9.0 - - 4000_17:57057488-57057488 A>C_PDEAVKVVSDHLTENNGDSSMVAHK 0.0 3:152554160-152554160 A>T 0.0 4186 BREAST - - - - P2RY1 uc003ezq.3,p.N197Y|ENST00000305097,p.N197Y|NM_002563,p.N197Y protein_coding uc003ezq.3 nonsynonymous SNV exon1 c.A589T p.N197Y PILFYSGTGVRKNKTITCYDTTSDE PILFYSGTGVRKYKTITCYDTTSDE 1.0 7.0 - - 4186_3:152554160-152554160 A>T_PILFYSGTGVRKYKTITCYDTTSDE 0.0 16:70884548-70884548 C>T 0.0 3903 MELANOMA - - - - HYDIN uc031qwy.1,p.D4152N|NM_001270974,p.D4152N|ENST00000393567,p.D4152N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031qwy.1 nonsynonymous SNV exon74 c.G12454A p.D4152N EGWIPPLSRFPIDIFFTPKQEGDVN EGWIPPLSRFPINIFFTPKQEGDVN 3.0 6.0 - - 3903_16:70884548-70884548 C>T_EGWIPPLSRFPINIFFTPKQEGDVN 0.0 6:26184238-26184238 A>T 1.0 4077 BILE DUCT - - - - HIST1H2BE ENST00000356530,p.E72V|uc003ngt.3,p.E72V|NM_003523,p.E72V protein_coding uc003ngt.3 nonsynonymous SNV exon1 c.A215T p.E72V MGIMNSFVNDIFERIAGEASRLAHY MGIMNSFVNDIFVRIAGEASRLAHY 10.0 10.0 CD8 - 4077_6:26184238-26184238 A>T_MGIMNSFVNDIFVRIAGEASRLAHY 1.0 5:39119092-39119092 G>A 1.0 2369 MELANOMA - - - - FYB ENST00000540520,p.S772F|uc003jlt.3,p.S762F|uc011cpl.2,p.S772F|ENST00000351578,p.S716F|uc003jls.3,p.S716F|NM_001465,p.S762F|ENST00000512982,p.S762F|uc003jlu.3,p.S716F|NM_001243093,p.S772F|ENST00000505428,p.S762F|NM_199335,p.S716F|ENST00000515010,p.S716F protein_coding, processed_transcript uc011cpl.2 nonsynonymous SNV exon16 c.C2315T p.S772F EIRVLYSTKVTTSITSKKWGTRDLQ EIRVLYSTKVTTFITSKKWGTRDLQ 9.0 8.0 - - 2369_5:39119092-39119092 G>A_EIRVLYSTKVTTFITSKKWGTRDLQ 0.0 6:34392907-34392907 T>G 1.0 4320 COLORECTAL - - - - RPS10,RPS10-NUDT3 NM_001014,p.K31T|NM_001203245,p.K31T|ENST00000344700,p.K31T|uc003ojm.3,p.K31T|ENST00000326199,p.K31T|NM_001202470,p.K31T|ENST00000605528,p.K31T|uc021yyu.1,p.K31T|NM_001204091,p.K31T|uc021yyt.1,p.K31T|uc003ojn.3,p.K31T protein_coding, processed_transcript uc021yyu.1 nonsynonymous SNV exon2 c.A92C p.K31T GVMVAKKDVHMPKHPELADKNVPNL GVMVAKKDVHMPTHPELADKNVPNL 10.0 8.0 - - 4320_6:34392907-34392907 T>G_GVMVAKKDVHMPTHPELADKNVPNL 0.0 1:37948442-37948442 T>C 0.0 4345 COLORECTAL - - ID=COSM908991;OCCURENCE=1(endometrium) - ZC3H12A uc001cbc.1,p.S139P|NM_025079,p.S344P|ENST00000373087,p.S344P|uc001cbb.4,p.S344P protein_coding, processed_transcript uc001cbc.1 nonsynonymous SNV exon3 c.T415C p.S139P SVADELRANALLSPPRAPSKDKNGR SVADELRANALLPPPRAPSKDKNGR 6.0 1.0 - - 4345_1:37948442-37948442 T>C_SVADELRANALLPPPRAPSKDKNGR 0.0 10:73551035-73551035 C>T 0.0 4235 COLORECTAL - - - - CDH23 ENST00000224721,p.R2071W|NM_022124,p.R2066W protein_coding, processed_transcript NM_022124 nonsynonymous SNV exon45 c.C6196T p.R2066W HLLITILDDNDNRPTFSPATLTVHL HLLITILDDNDNWPTFSPATLTVHL 5.0 4.0 - - 4235_10:73551035-73551035 C>T_HLLITILDDNDNWPTFSPATLTVHL 0.0 18:57105368-57105368 C>T 1.0 3713 MELANOMA - - - - CCBE1 uc002lib.3,p.G321E|ENST00000439986,p.G321E|NM_133459,p.G321E|uc010dpq.3,p.G50E|uc002lia.3,p.G174E|ENST00000398179,p.G50E retained_intron, protein_coding uc010dpq.3 nonsynonymous SNV exon4 c.G149A p.G50E GAPGRDGSKGERGAPGPRGSPGPPG GAPGRDGSKGEREAPGPRGSPGPPG 2.0 9.0 - - 3713_18:57105368-57105368 C>T_GAPGRDGSKGEREAPGPRGSPGPPG 0.0 2:198285224-198285224 G>A 1.0 3466 MELANOMA - - - 1 SF3B1 uc002uuf.3,p.R115W|uc002uue.3,p.R115W|NM_001005526,p.R115W|uc002uug.3,p.R115W|ENST00000487698,p.R115W|ENST00000335508,p.R115W|ENST00000414963,p.R115W|ENST00000409915,p.R115W|NM_012433,p.R115W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002uug.3 nonsynonymous SNV exon4 c.C343T p.R115W PFAEHRPPKIADREDEYKKHRRTMI PFAEHRPPKIADWEDEYKKHRRTMI 10.0 2.0 - - 3466_2:198285224-198285224 G>A_PFAEHRPPKIADWEDEYKKHRRTMI 0.0 9:114304822-114304822 C>T 0.0 4158 COLORECTAL - - - - ZNF483 ENST00000309235,p.S536L|NM_133464,p.S536L|uc004bff.2,p.S536L protein_coding uc004bff.2 nonsynonymous SNV exon6 c.C1607T p.S536L KCKDCGRPFSDSSSLIQHQRIHTGE KCKDCGRPFSDSLSLIQHQRIHTGE 7.0 8.0 - - 4158_9:114304822-114304822 C>T_KCKDCGRPFSDSLSLIQHQRIHTGE 0.0 5:6753065-6753065 C>T 1.0 3466 MELANOMA - - - - PAPD7 uc010itl.1,p.S270F|uc011cmn.2,p.S450F|ENST00000230859,p.S450F|uc003jdx.1,p.S450F|NM_001171806,p.S270F|NM_001171805,p.S450F|NM_006999,p.S450F retained_intron, protein_coding uc011cmn.2 nonsynonymous SNV exon12 c.C1349T p.S450F VPCRQAGVEGTASLKAVHHMSSPAI VPCRQAGVEGTAFLKAVHHMSSPAI 9.0 7.0 - - 3466_5:6753065-6753065 C>T_VPCRQAGVEGTAFLKAVHHMSSPAI 0.0 18:76755310-76755310 C>T 1.0 4284 COLORECTAL - - - - SALL3 ENST00000536229,p.R902C|ENST00000575389,p.R1035C|uc002lmt.3,p.R1107C|NM_171999,p.R1107C|ENST00000537592,p.R1107C|uc010dra.3,p.R642C protein_coding, processed_transcript uc010dra.3 nonsynonymous SNV exon2 c.C1924T p.R642C GPGLAPMLAPPPRRTPKQHNCQSCG GPGLAPMLAPPPCRTPKQHNCQSCG 6.0 9.0 - - 4284_18:76755310-76755310 C>T_GPGLAPMLAPPPCRTPKQHNCQSCG 0.0 4:25834625-25834625 C>T 1.0 4213 COLORECTAL - - - - SEL1L3 NM_001297592,p.G329R|NM_015187,p.G364R|NM_001297594,p.G211R|uc003gru.4,p.G364R|ENST00000399878,p.G364R|ENST00000264868,p.G329R|ENST00000502949,p.G211R retained_intron, protein_coding, processed_transcript uc003gru.4 nonsynonymous SNV exon5 c.G1090A p.G364R LKEWFRLDISFNGGQIVVTTSIGQD LKEWFRLDISFNRGQIVVTTSIGQD 10.0 8.0 - - 4213_4:25834625-25834625 C>T_LKEWFRLDISFNRGQIVVTTSIGQD 0.0 5:70858183-70858183 A>T 1.0 4320 COLORECTAL - - - - BDP1 uc003kbp.1,p.S2527C|ENST00000525844,p.S549C|NM_018429,p.S2527C|ENST00000358731,p.S2527C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003kbp.1 nonsynonymous SNV exon38 c.A7579T p.S2527C NSLESDEPMQVHSKKRLKPLIPGLR NSLESDEPMQVHCKKRLKPLIPGLR 8.0 8.0 - - 4320_5:70858183-70858183 A>T_NSLESDEPMQVHCKKRLKPLIPGLR 0.0 19:44792165-44792165 G>A 1.0 3879 MELANOMA - - - - ZNF235 uc002ozb.4,p.H471Y|NM_004234,p.H475Y|ENST00000291182,p.H475Y|uc002oza.4,p.H475Y retained_intron, protein_coding, nonsense_mediated_decay uc002ozb.4 nonsynonymous SNV exon5 c.C1411T p.H471Y ECGKCFSLSFNLHSHQRVHTGEKPY ECGKCFSLSFNLYSHQRVHTGEKPY 5.0 8.0 - - 3879_19:44792165-44792165 G>A_ECGKCFSLSFNLYSHQRVHTGEKPY 0.0 11:66639309-66639309 G>A 1.0 4326 BREAST - - - - PC NM_001040716,p.T57M|NM_022172,p.T57M|uc001ojn.1,p.T57M|NM_000920,p.T57M|ENST00000393958,p.T57M|ENST00000524491,p.T17M|ENST00000393955,p.T57M|ENST00000355677,p.T57M|uc001ojo.1,p.T57M|ENST00000393960,p.T57M|uc001ojp.1,p.T57M protein_coding, processed_transcript uc001ojp.1 nonsynonymous SNV exon4 c.C170T p.T57M RGEIAIRVFRACTELGIRTVAIYSE RGEIAIRVFRACMELGIRTVAIYSE 6.0 4.0 - - 4326_11:66639309-66639309 G>A_RGEIAIRVFRACMELGIRTVAIYSE 0.0 3:41275240-41275240 G>A 1.0 4245 COLORECTAL - - ID=COSM1582585;OCCURENCE=1(stomach),1(large_intestine) 1 CTNNB1 uc011azf.1,p.R462H|ENST00000396183,p.R469H|uc003ckr.2,p.R469H|uc011azg.1,p.R397H|NM_001098209,p.R469H|ENST00000396185,p.R469H|ENST00000349496,p.R469H|ENST00000405570,p.R469H|uc003cks.3,p.R72H|uc003ckq.2,p.R469H|ENST00000453024,p.R462H|NM_001904,p.R469H|uc003ckp.2,p.R469H|uc010hia.1,p.R469H|NM_001098210,p.R469H retained_intron, protein_coding, processed_transcript uc011azg.1 nonsynonymous SNV exon9 c.G1190A p.R397H REDITEPAICALRHLTSRHQEAEMA REDITEPAICALHHLTSRHQEAEMA 10.0 8.0 - - 4245_3:41275240-41275240 G>A_REDITEPAICALHHLTSRHQEAEMA 0.0 1:156236042-156236042 C>T 1.0 3775 CERVICAL 0.0005 - - - SMG5 uc001foc.4,p.R462H|NM_015327,p.R462H|ENST00000361813,p.R462H protein_coding, processed_transcript uc001foc.4 nonsynonymous SNV exon12 c.G1385A p.R462H SRKFSRLSCLRRRRHPPKVGDDSDL SRKFSRLSCLRRHRHPPKVGDDSDL 9.0 8.0 - - 3775_1:156236042-156236042 C>T_SRKFSRLSCLRRHRHPPKVGDDSDL 0.0 10:129914758-129914758 G>A 1.0 3713 MELANOMA - - - - MKI67 ENST00000368654,p.P133S|uc001lke.3,p.P133S|NM_002417,p.P133S protein_coding, processed_transcript uc001lke.3 nonsynonymous SNV exon6 c.C397T p.P133S ARRVSRSSFSSDPDEKAQDSKAYSK ARRVSRSSFSSDSDEKAQDSKAYSK 5.0 6.0 - - 3713_10:129914758-129914758 G>A_ARRVSRSSFSSDSDEKAQDSKAYSK 0.0 1:110593647-110593647 A>T 1.0 3466 MELANOMA - - - - STRIP1 uc009wfp.2,p.N500Y|NM_033088,p.N676Y|ENST00000369796,p.N581Y|uc001dza.2,p.N676Y|ENST00000369795,p.N676Y|uc001dyz.1,p.N581Y|NM_001270768,p.N581Y retained_intron, protein_coding, processed_transcript uc009wfp.2 nonsynonymous SNV exon20 c.A1498T p.N500Y NLFSCINLLRILNKLTKWKHSRTMM NLFSCINLLRILYKLTKWKHSRTMM 8.0 3.0 - - 3466_1:110593647-110593647 A>T_NLFSCINLLRILYKLTKWKHSRTMM 0.0 17:43922298-43922298 C>T 0.0 3713 MELANOMA - - - - SPPL2C uc010wka.2,p.P9L|NM_175882,p.P9L|ENST00000329196,p.P9L protein_coding uc010wka.2 nonsynonymous SNV exon1 c.C26T p.P9L MACLGFLLPVGFLLLISTVAG MACLGFLLLVGFLLLISTVAG 1.0 6.0 - - 3713_17:43922298-43922298 C>T_MACLGFLLLVGFLLLISTVAG 0.0 17:42992432-42992432 C>A 0.0 4284 COLORECTAL - - - - GFAP uc021tyh.1,p.R141S|uc002ihr.3,p.R141S|NM_002055,p.R141S|ENST00000588316,p.R141S|ENST00000588037,p.R141S|ENST00000435360,p.R141S|ENST00000592320,p.R141S|ENST00000253408,p.R141S|ENST00000586793,p.R141S|uc002ihq.3,p.R141S|ENST00000376990,p.R141S|NM_001242376,p.R141S|NM_001131019,p.R141S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021tyh.1 nonsynonymous SNV exon1 c.G423T p.R141S QLTANSARLEVERDNLAQDLATVRQ QLTANSARLEVESDNLAQDLATVRQ 3.0 6.0 - - 4284_17:42992432-42992432 C>A_QLTANSARLEVESDNLAQDLATVRQ 0.0 12:70963625-70963625 G>A 0.0 2591 MELANOMA - - - 1 PTPRB uc001swa.4,p.S1067F|ENST00000261266,p.S937F|ENST00000451516,p.S847F|uc001swb.4,p.S937F|NM_002837,p.S937F|NM_001109754,p.S1155F|NM_001206971,p.S847F|uc001swc.4,p.S1155F|ENST00000551525,p.S1154F|ENST00000550857,p.S847F|ENST00000548122,p.S1034F|ENST00000538708,p.S937F|ENST00000334414,p.S1155F|uc010stp.2,p.S847F|ENST00000550358,p.S1067F|uc010sto.2,p.S937F|NM_001206972,p.S937F|uc009zrr.2,p.S1034F|uc001swd.4,p.S1154F retained_intron, protein_coding, processed_transcript uc010stp.2 nonsynonymous SNV exon11 c.C2540T p.S847F TVNWTPGGGDVDSYTVSAFRHSQKV TVNWTPGGGDVDFYTVSAFRHSQKV 4.0 7.0 - - 2591_12:70963625-70963625 G>A_TVNWTPGGGDVDFYTVSAFRHSQKV 0.0 17:79095107-79095107 C>A 1.0 4129 NSCLC - - - - AATK NM_004920,p.D774Y|ENST00000326724,p.D877Y|ENST00000374792,p.D841Y|ENST00000417379,p.D774Y|NM_001080395,p.D877Y|uc010dia.3,p.D877Y|ENST00000570932,p.D67Y|uc021ueu.1,p.D774Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021ueu.1 nonsynonymous SNV exon10 c.G2320T p.D774Y EATSGIFTDTSSDGLQARRPDVVPA EATSGIFTDTSSYGLQARRPDVVPA 6.0 4.0 - - 4129_17:79095107-79095107 C>A_EATSGIFTDTSSYGLQARRPDVVPA 0.0 3:130377562-130377562 G>T 0.0 3795 MELANOMA - - - - COL6A6 uc010htl.3,p.G1926W|NM_001102608,p.G1926W|ENST00000453409,p.G1926W|ENST00000358511,p.G1926W|uc003eni.4,p.G25W protein_coding, nonsense_mediated_decay uc010htl.3 nonsynonymous SNV exon33 c.G5776T p.G1926W DTGTFQVIVVPSGADYIPALERLQR DTGTFQVIVVPSWADYIPALERLQR 1.0 8.0 - - 3795_3:130377562-130377562 G>T_DTGTFQVIVVPSWADYIPALERLQR 0.0 9:131860571-131860571 G>A 1.0 3713 MELANOMA - - - - CRAT NM_001257363,p.P408S|uc004bxk.4,p.P408S|uc004bxh.3,p.P429S|ENST00000318080,p.P429S|NM_000755,p.P429S protein_coding, processed_transcript, nonsense_mediated_decay uc004bxk.4 nonsynonymous SNV exon11 c.C1222T p.P408S FGKDFPKSEKLSPDAFIQMALQLAY FGKDFPKSEKLSSDAFIQMALQLAY 5.0 9.0 - - 3713_9:131860571-131860571 G>A_FGKDFPKSEKLSSDAFIQMALQLAY 0.0 2:238664814-238664814 G>T 1.0 4284 COLORECTAL - - - - LRRFIP1 ENST00000392000,p.R244I|uc002vxf.3,p.R188I|ENST00000244815,p.R220I|uc010znm.2,p.R188I|uc002vxe.3,p.R244I|ENST00000289175,p.R188I|NM_004735,p.R220I|NM_001137553,p.R188I|uc002vxd.3,p.R220I|NM_001137551,p.R188I|NM_001137552,p.R244I retained_intron, protein_coding, processed_transcript uc010znm.2 nonsynonymous SNV exon6 c.G563T p.R188I FQFAEVKEALKQREEMLEKHGIILN FQFAEVKEALKQIEEMLEKHGIILN 10.0 10.0 - - 4284_2:238664814-238664814 G>T_FQFAEVKEALKQIEEMLEKHGIILN 0.0 20:61460980-61460980 G>A 1.0 3466 MELANOMA - - - - COL9A3 ENST00000343916,p.G352S|NM_001853,p.G352S|uc002ydm.3,p.G352S retained_intron, protein_coding, processed_transcript uc002ydm.3 nonsynonymous SNV exon21 c.G1054A p.G352S GRAGSKGEKGERGRAGELGEAGPSG GRAGSKGEKGERSRAGELGEAGPSG 10.0 4.0 - - 3466_20:61460980-61460980 G>A_GRAGSKGEKGERSRAGELGEAGPSG 0.0 1:62739601-62739601 G>T 0.0 4110 BILE DUCT - - - - KANK4 uc001dah.4,p.A392D|ENST00000371153,p.A392D|NM_181712,p.A392D protein_coding uc001dah.4 nonsynonymous SNV exon3 c.C1175A p.A392D REQRIRELEFTVAQLEGQFHQENAK REQRIRELEFTVDQLEGQFHQENAK 3.0 5.0 - - 4110_1:62739601-62739601 G>T_REQRIRELEFTVDQLEGQFHQENAK 0.0 X:114425733-114425733 G>A 0.0 3998 MELANOMA - - ID=COSM1113485;OCCURENCE=1(endometrium) - RBMXL3 uc011mte.1,p.D577N|ENST00000424776,p.D577N|NM_001145346,p.D577N protein_coding uc011mte.1 nonsynonymous SNV exon1 c.G1729A p.D577N GGCSADAYSGGHDSSSQSNRYGGGG GGCSADAYSGGHNSSSQSNRYGGGG 1.0 10.0 - - 3998_X:114425733-114425733 G>A_GGCSADAYSGGHNSSSQSNRYGGGG 0.0 18:56940363-56940363 C>T 0.0 4196 COLORECTAL - - - - RAX uc010dpp.3,p.G17S|ENST00000256852,p.G26S|ENST00000555288,p.G26S|ENST00000334889,p.G26S|NM_013435,p.G26S|uc002lhx.3,p.G26S retained_intron, protein_coding uc010dpp.3 nonsynonymous SNV exon1 c.G49A p.G17S SFSLAGHLLRSPGGSTSRLHSIEAI SFSLAGHLLRSPSGSTSRLHSIEAI 4.0 10.0 - - 4196_18:56940363-56940363 C>T_SFSLAGHLLRSPSGSTSRLHSIEAI 0.0 8:27255130-27255130 G>A 1.0 4320 COLORECTAL 0.0014 - - - PTK2B NM_173175,p.R10Q|ENST00000412793,p.R10Q|uc003xfq.2,p.R10Q|ENST00000420218,p.R10Q|uc003xfp.2,p.R10Q|uc003xfn.2,p.R10Q|NM_004103,p.R10Q|ENST00000522338,p.R10Q|NM_173174,p.R10Q|ENST00000397501,p.R10Q|ENST00000346049,p.R10Q|uc022ate.1,p.R10Q|NM_173176,p.R10Q|ENST00000544172,p.R10Q|ENST00000517339,p.R10Q|ENST00000522517,p.R10Q|ENST00000338238,p.R10Q|ENST00000521164,p.R10Q retained_intron, protein_coding, processed_transcript uc022ate.1 nonsynonymous SNV exon3 c.G29A p.R10Q MSGVSEPLSRVKLGTLRRPEGP MSGVSEPLSQVKLGTLRRPEGP 8.0 8.0 - - 4320_8:27255130-27255130 G>A_MSGVSEPLSQVKLGTLRRPEGP 0.0 7:92764074-92764074 C>T 1.0 3713 MELANOMA - - - - SAMD9L uc003umh.1,p.G404E|ENST00000437805,p.G404E|uc022ahh.1,p.G404E|NM_152703,p.G404E|uc010lfb.1,p.G404E|uc003umj.1,p.G404E|uc010lfd.1,p.G404E|uc003umk.1,p.G404E|uc003umi.1,p.G404E|ENST00000318238,p.G404E|ENST00000411955,p.G404E|uc010lfc.1,p.G404E protein_coding, processed_transcript uc022ahh.1 nonsynonymous SNV exon1 c.G1211A p.G404E ESEGLKLVKLLIGNRDSLDNSYYDW ESEGLKLVKLLIENRDSLDNSYYDW 9.0 8.0 - - 3713_7:92764074-92764074 C>T_ESEGLKLVKLLIENRDSLDNSYYDW 0.0 13:115090093-115090093 C>A 1.0 4258 ENDOMETRIAL - - - - CHAMP1 uc001vuv.3,p.P259Q|ENST00000361283,p.P259Q|NM_001164145,p.P259Q|uc010tko.2,p.P259Q|NM_032436,p.P259Q|uc021rmx.1,p.P259Q|uc010ahb.3,p.P259Q|NM_001164144,p.P259Q protein_coding, processed_transcript uc021rmx.1 nonsynonymous SNV exon1 c.C776A p.P259Q SPVLAASPEPWGPSPAASPESRKSA SPVLAASPEPWGQSPAASPESRKSA 7.0 7.0 - - 4258_13:115090093-115090093 C>A_SPVLAASPEPWGQSPAASPESRKSA 0.0 14:32563354-32563354 T>C 1.0 4000 MELANOMA - - - 2 ARHGAP5 NM_001173,p.L1160S|uc001wrm.3,p.L1160S|ENST00000539826,p.L1160S|ENST00000432921,p.L1160S|ENST00000345122,p.L1160S|ENST00000556611,p.L1160S|uc001wrl.3,p.L1160S|NM_001030055,p.L1160S|uc001wrn.3,p.L1160S retained_intron, protein_coding, nonsense_mediated_decay uc001wrn.3 nonsynonymous SNV exon2 c.T3479C p.L1160S RRPSKYKYKSKTLFSKAKSYYRRTH RRPSKYKYKSKTSFSKAKSYYRRTH 10.0 9.0 - - 4000_14:32563354-32563354 T>C_RRPSKYKYKSKTSFSKAKSYYRRTH 0.0 7:78636418-78636418 G>A 0.0 4095 COLORECTAL - - ID=COSM1257168;OCCURENCE=1(oesophagus) - MAGI2 NM_001301128,p.R136C|ENST00000522391,p.R136C|NM_012301,p.R136C|uc003ugy.3,p.R136C|ENST00000354212,p.R136C|uc003ugx.3,p.R136C|ENST00000419488,p.R136C retained_intron, protein_coding, processed_transcript uc003ugy.3 nonsynonymous SNV exon2 c.C406T p.R136C ELQQIIRDNLYLRTVPCTTRPHKEG ELQQIIRDNLYLCTVPCTTRPHKEG 6.0 8.0 - - 4095_7:78636418-78636418 G>A_ELQQIIRDNLYLCTVPCTTRPHKEG 0.0 12:6494516-6494516 G>A 1.0 4180 BREAST - - - - LTBR ENST00000543190,p.C41Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000543190 nonsynonymous SNV exon4 c.G122A p.C41Y ALECTHCELLSDCPPGTEAELKGVR ALECTHCELLSDYPPGTEAELKGVR 10.0 6.0 - - 4180_12:6494516-6494516 G>A_ALECTHCELLSDYPPGTEAELKGVR 0.0 7:944729-944729 C>G 1.0 4186 BREAST - - - - ADAP1 uc003sjn.4,p.E85Q|uc011jvs.2,p.E62Q|ENST00000435943,p.E144Q|uc003sjo.4,p.E157Q|NM_001284308,p.E168Q|ENST00000265846,p.E157Q|uc010ksc.3,p.E85Q|NM_001284310,p.E85Q|NM_001284309,p.E85Q|NM_006869,p.E157Q|ENST00000539900,p.E168Q|ENST00000449296,p.E85Q|NM_001284311,p.E62Q retained_intron, protein_coding, processed_transcript uc011jvs.2 nonsynonymous SNV exon3 c.G184C p.E62Q QFLSRKFVLTEREGALKYFNRNDAK QFLSRKFVLTERQGALKYFNRNDAK 8.0 7.0 - - 4186_7:944729-944729 C>G_QFLSRKFVLTERQGALKYFNRNDAK 0.0 17:58571953-58571953 C>G 1.0 3879 MELANOMA - - - - APPBP2 uc010ddl.1,p.A14P|NM_001282476,p.A14P protein_coding, processed_transcript, nonsense_mediated_decay uc010ddl.1 nonsynonymous SNV exon2 c.G40C p.A14P FTTRHLLHHCFQALMDHGVKVASVL FTTRHLLHHCFQPLMDHGVKVASVL 8.0 7.0 - - 3879_17:58571953-58571953 C>G_FTTRHLLHHCFQPLMDHGVKVASVL 0.0 2:105473259-105473259 C>A 0.0 4126 NSCLC - - - - POU3F3 uc010ywg.2,p.P431T|ENST00000361360,p.P431T|NM_006236,p.P431T protein_coding uc010ywg.2 nonsynonymous SNV exon1 c.C1291A p.P431T GALESHFLKCPKPSAQEITNLADSL GALESHFLKCPKTSAQEITNLADSL 1.0 8.0 - - 4126_2:105473259-105473259 C>A_GALESHFLKCPKTSAQEITNLADSL 0.0 17:7577594-7577595 AC>- 1.0 4326 BREAST - - ID=COSM44360,COSM111636,COSM111635,COSM111637;OCCURENCE=3(large_intestine),2(breast),1(oesophagus),3(ovary) 1 TP53 NM_001126117,p.C97fs|uc002gii.2,p.C70fs|NM_001126115,p.C97fs|uc010cng.2,p.C70fs|NM_001126112,p.C229fs|uc002gim.3,p.C229fs|NM_001126116,p.C97fs|ENST00000420246,p.C229fs|NM_001276697,p.C70fs|uc002gij.3,p.C190fs|NM_001126113,p.C229fs|uc002gio.3,p.C97fs|NM_001276761,p.C190fs|NM_001276696,p.C190fs|NM_001126118,p.C190fs|ENST00000514944,p.C136fs|uc002gin.3,p.C136fs|ENST00000445888,p.C229fs|uc031qyq.1,p.C190fs|uc010cni.2,p.C229fs|ENST00000359597,p.C229fs|uc002gih.3,p.C229fs|NM_001126114,p.C229fs|ENST00000509690,p.C97fs|ENST00000269305,p.C229fs|NM_001276760,p.C190fs|NM_000546,p.C229fs|ENST00000455263,p.C229fs|ENST00000413465,p.C229fs|NM_001276699,p.C70fs|uc010cnf.2,p.C70fs|uc010cnh.2,p.C229fs|NM_001276698,p.C70fs|uc002gig.1,p.C229fs|NM_001276695,p.C190fs retained_intron, protein_coding, processed_transcript uc031qyq.1 frameshift deletion exon6 c.569_570del p.C190fs VVPYEPPEVGSDCTTIHYNYMCNSSC VVPYEPPEVGSDYHHPLQLHV 8.0 10.0 - - 4326_17:7577594-7577595 AC>-_VVPYEPPEVGSDYHHPLQLHV 0.0 7:117067454-117067454 C>T 0.0 4186 BREAST - - ID=COSM598561;OCCURENCE=1(lung) - ASZ1 uc003vjb.2,p.E21K|NM_130768,p.E21K|NM_001301821,p.E21K|ENST00000450714,p.E21K|uc011kno.1,p.E21K|ENST00000284629,p.E21K retained_intron, protein_coding, nonsense_mediated_decay uc011kno.1 nonsynonymous SNV exon1 c.G61A p.E21K LPVAGGGESSESEDDGWEIGYLDRT LPVAGGGESSESKDDGWEIGYLDRT 1.0 7.0 - - 4186_7:117067454-117067454 C>T_LPVAGGGESSESKDDGWEIGYLDRT 0.0 12:6483615-6483615 T>A 1.0 4281 COLORECTAL - - - - SCNN1A NM_001159575,p.Y135F|uc001qnx.3,p.Y112F|ENST00000536788,p.Y133F|ENST00000228916,p.Y112F|ENST00000543768,p.Y135F|uc001qnw.3,p.Y171F|uc010sfb.2,p.Y135F|NM_001159576,p.Y171F|NM_001038,p.Y112F|ENST00000358945,p.Y112F|ENST00000338748,p.Y112F|ENST00000396966,p.Y112F|ENST00000360168,p.Y171F protein_coding, processed_transcript, nonsense_mediated_decay uc010sfb.2 nonsynonymous SNV exon2 c.A404T p.Y135F WQFGLLFGEYFSYPVSLNINLNSDK WQFGLLFGEYFSFPVSLNINLNSDK 10.0 6.0 - - 4281_12:6483615-6483615 T>A_WQFGLLFGEYFSFPVSLNINLNSDK 0.0 6:33152774-33152774 C>T 1.0 4155 MELANOMA - - - - COL11A2 ENST00000395197,p.E312K|uc003ocy.1,p.E286K|ENST00000374708,p.E286K|NM_080681,p.E286K protein_coding, processed_transcript uc003ocy.1 nonsynonymous SNV exon6 c.G856A p.E286K EEILESSLLPPLEEAAHGPRGLKGE EEILESSLLPPLKEAAHGPRGLKGE 5.0 9.0 - - 4155_6:33152774-33152774 C>T_EEILESSLLPPLKEAAHGPRGLKGE 0.0 3:42251399-42251399 G>C 1.0 4134 NSCLC - - - - TRAK1 uc011azi.3,p.E629Q protein_coding, processed_transcript, nonsense_mediated_decay uc011azi.3 nonsynonymous SNV exon14 c.G1885C p.E629Q VDLDEVYCLNDFEEDDTAHHPGKCM VDLDEVYCLNDFQEDDTAHHPGKCM 7.0 9.0 - - 4134_3:42251399-42251399 G>C_VDLDEVYCLNDFQEDDTAHHPGKCM 0.0 4:72623770-72623770 T>G 0.0 4046 OVARIAN - - - - GC uc021xpb.1,p.M274L|NM_001204307,p.M293L|uc003hge.3,p.M274L|ENST00000509740,p.M274L|NM_000583,p.M274L|uc010iif.3,p.M293L|ENST00000504199,p.M293L|ENST00000273951,p.M274L|NM_001204306,p.M274L|ENST00000513476,p.M274L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021xpb.1 nonsynonymous SNV exon8 c.A820C p.M274L LSKCCESASEDCMAKELPEHTVKLC LSKCCESASEDCLAKELPEHTVKLC 1.0 7.0 - - 4046_4:72623770-72623770 T>G_LSKCCESASEDCLAKELPEHTVKLC 0.0 17:5037195-5037195 G>A 0.0 4346 COLORECTAL - - - 1 USP6 ENST00000250066,p.R133K|ENST00000574788,p.R133K|NM_004505,p.R133K|ENST00000575709,p.R133K|ENST00000572949,p.R133K|uc002gaw.3,p.R194K|ENST00000332776,p.R133K|uc002gav.1,p.R133K|uc002gau.1,p.R133K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002gaw.3 nonsynonymous SNV exon8 c.G581A p.R194K LKNPGRYQIMKERGKRSSEHIHHID LKNPGRYQIMKEKGKRSSEHIHHID 2.0 1.0 - - 4346_17:5037195-5037195 G>A_LKNPGRYQIMKEKGKRSSEHIHHID 0.0 7:21639546-21639546 C>A 0.0 4287 COLORECTAL - - - - DNAH11 uc031swp.1,p.Q937K|NM_001277115,p.Q937K|ENST00000409508,p.Q937K|ENST00000328843,p.Q937K retained_intron, protein_coding, processed_transcript uc031swp.1 nonsynonymous SNV exon15 c.C2809A p.Q937K HDLDFFLKNTEKQLKPAPFFQAQMI HDLDFFLKNTEKKLKPAPFFQAQMI 3.0 8.0 - - 4287_7:21639546-21639546 C>A_HDLDFFLKNTEKKLKPAPFFQAQMI 0.0 5:135508150-135508150 ->TAAACA 1.0 4213 COLORECTAL - - - - SMAD5 ENST00000545279,p.P268delinsPKH|uc003lbj.1,p.P268delinsPKH|uc003lbk.1,p.P268delinsPKH|uc003lbl.1,p.P268delinsPKH|ENST00000545620,p.P268delinsPKH retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003lbl.1 nonframeshift insertion exon5 c.803_804insTAAACA p.P268delinsPKH SSRDVQPVAYEEPKHWCSIVYYELN SSRDVQPVAYEEPKHKHWCSIVYYE 9.0 7.0 CD8 - 4213_5:135508150-135508150 ->TAAACA_SSRDVQPVAYEEPKHKHWCSIVYYE 1.0 5:140347349-140347349 T>C 0.0 4326 BREAST - - - - PCDHAC2 ENST00000289269,p.I333T|NM_031883,p.I333T|NM_018899,p.I333T|uc003lii.3,p.I333T|uc011dag.2,p.I333T protein_coding uc011dag.2 nonsynonymous SNV exon1 c.T998C p.I333T GGLDYEEASSYQIYVQATDRGPVPM GGLDYEEASSYQTYVQATDRGPVPM 3.0 5.0 - - 4326_5:140347349-140347349 T>C_GGLDYEEASSYQTYVQATDRGPVPM 0.0 19:54871655-54871655 G>A 1.0 4244 COLORECTAL - - - - LAIR1 ENST00000391741,p.R99W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000391741 nonsynonymous SNV exon4 c.C295T p.R99W RIDSKPLEARTPRTQSPAPQLDPRR RIDSKPLEARTPWTQSPAPQLDPRR 9.0 7.0 - - 4244_19:54871655-54871655 G>A_RIDSKPLEARTPWTQSPAPQLDPRR 0.0 10:45953739-45953739 G>C 1.0 4240 BREAST - - - - MARCH8 ENST00000395771,p.S275C|NM_001002266,p.S275C|NM_145021,p.S275C|uc001jcg.1,p.S144C|uc001jck.1,p.S275C|NM_001282866,p.S557C|uc001jch.2,p.S557C|uc001jci.1,p.S275C|ENST00000453424,p.S557C|ENST00000395769,p.S275C|ENST00000319836,p.S275C|uc001jcj.1,p.S275C protein_coding, processed_transcript uc001jck.1 nonsynonymous SNV exon7 c.C824G p.S275C KHGYGICHSDTNSSCCTEPEDTGAE KHGYGICHSDTNCSCCTEPEDTGAE 7.0 10.0 - - 4240_10:45953739-45953739 G>C_KHGYGICHSDTNCSCCTEPEDTGAE 0.0 1:25747154-25747154 T>G 0.0 4189 MELANOMA - - - - RHCE ENST00000533771,p.K42Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000533771 nonsynonymous SNV exon1 c.A124C p.K42Q FFTHYDASLEDQKGLVASYQVFGWP FFTHYDASLEDQQGLVASYQVFGWP 5.0 10.0 - - 4189_1:25747154-25747154 T>G_FFTHYDASLEDQQGLVASYQVFGWP 0.0 20:57766949-57766949 C>T 0.0 4287 COLORECTAL - - - - ZNF831 uc002yan.3,p.A292V|NM_178457,p.A292V|ENST00000371030,p.A292V protein_coding uc002yan.3 nonsynonymous SNV exon1 c.C875T p.A292V WDSAPMASPGLPAASTQPWRKLPEQ WDSAPMASPGLPVASTQPWRKLPEQ 2.0 9.0 - - 4287_20:57766949-57766949 C>T_WDSAPMASPGLPVASTQPWRKLPEQ 0.0 9:104152997-104152997 T>G 0.0 4081 COLORECTAL - - - - MRPL50 NM_019051,p.E76D|uc004bbe.2,p.E76D|uc011lvj.2,p.E76D|ENST00000374865,p.E76D|ENST00000539624,p.E76D protein_coding uc011lvj.2 nonsynonymous SNV exon2 c.A228C p.E76D EDLQSRLESYVKEVFGSSLPSNWQD EDLQSRLESYVKDVFGSSLPSNWQD 3.0 2.0 - - 4081_9:104152997-104152997 T>G_EDLQSRLESYVKDVFGSSLPSNWQD 0.0 13:102359121-102359121 C>T 1.0 3713 MELANOMA - - - - ITGBL1 ENST00000376162,p.S290F|NM_001271755,p.S334F|ENST00000376180,p.S383F|ENST00000545560,p.S242F|uc001vpb.4,p.S383F|uc010agb.4,p.S334F|uc001vpc.5,p.S242F|uc031qnc.1,p.S290F|NM_004791,p.S383F|NM_001271754,p.S242F|NM_001271756,p.S290F protein_coding, processed_transcript uc031qnc.1 nonsynonymous SNV exon8 c.C869T p.S290F LDGVVCGGHGTCSCGRCVCERGWFG LDGVVCGGHGTCFCGRCVCERGWFG 2.0 7.0 - - 3713_13:102359121-102359121 C>T_LDGVVCGGHGTCFCGRCVCERGWFG 0.0 19:9067641-9067641 G>A 0.0 4240 BREAST - - - 2 MUC16 ENST00000397910,p.S6602F|NM_024690,p.S6602F|uc002mkp.3,p.S6602F protein_coding, processed_transcript, nonsense_mediated_decay uc002mkp.3 nonsynonymous SNV exon3 c.C19805T p.S6602F TNIAVTNVGTTTSEKESYSSVPAYS TNIAVTNVGTTTFEKESYSSVPAYS 3.0 8.0 - - 4240_19:9067641-9067641 G>A_TNIAVTNVGTTTFEKESYSSVPAYS 0.0 1:62739440-62739440 C>T 0.0 4235 COLORECTAL - - - - KANK4 ENST00000371153,p.G446R|NM_181712,p.G446R|uc001dah.4,p.G446R protein_coding uc001dah.4 nonsynonymous SNV exon3 c.G1336A p.G446R VNLLGSMESESWGHRGEENGLLWGP VNLLGSMESESWRHRGEENGLLWGP 2.0 7.0 - - 4235_1:62739440-62739440 C>T_VNLLGSMESESWRHRGEENGLLWGP 0.0 10:77158775-77158775 G>A 1.0 4189 MELANOMA - - - - ZNF503 NM_032772,p.S558L|uc001jxg.3,p.S558L|ENST00000535216,p.S558L|ENST00000372524,p.S558L protein_coding, processed_transcript uc001jxg.3 nonsynonymous SNV exon2 c.C1673T p.S558L PGTDKLLSGYPSSSSLASAAAAAMA PGTDKLLSGYPSLSSLASAAAAAMA 4.0 9.0 - - 4189_10:77158775-77158775 G>A_PGTDKLLSGYPSLSSLASAAAAAMA 0.0 19:54632507-54632507 C>G 0.0 4320 COLORECTAL - - - - PRPF31 ENST00000391755,p.R402G|ENST00000321030,p.R408G|uc002qdh.2,p.R408G|NM_015629,p.R408G|uc021vbi.1,p.R408G retained_intron, protein_coding, processed_transcript uc021vbi.1 nonsynonymous SNV exon13 c.C1222G p.R408G LGHLGKSGSGRVRQTQVNEATKARI LGHLGKSGSGRVGQTQVNEATKARI 10.0 2.0 - - 4320_19:54632507-54632507 C>G_LGHLGKSGSGRVGQTQVNEATKARI 0.0 19:53741769-53741769 C>T 1.0 2369 MELANOMA - - - - ZNF677 ENST00000598513,p.E71K|ENST00000333952,p.E71K|uc002qbg.1,p.E71K|ENST00000594517,p.E71K|uc002qbf.1,p.E71K|NM_182609,p.E71K retained_intron, protein_coding, processed_transcript uc002qbg.1 nonsynonymous SNV exon5 c.G211A p.E71K SVGFTSKGLSPKENNKEELYHLVIL SVGFTSKGLSPKKNNKEELYHLVIL 9.0 4.0 - - 2369_19:53741769-53741769 C>T_SVGFTSKGLSPKKNNKEELYHLVIL 0.0 6:43745317-43745317 G>T 1.0 4126 NSCLC - - - - VEGFA NM_001171630,p.C77F|NM_001171629,p.C77F|ENST00000372067,p.C257F|NM_001204385,p.C257F|uc003owb.3,p.C77F|ENST00000523950,p.C77F|uc003owf.3,p.C257F|NM_001025370,p.C257F|ENST00000372064,p.C257F|NM_001025369,p.C257F|ENST00000518689,p.C77F|NM_001033756,p.C257F|NM_001171622,p.C257F|NM_001171628,p.C77F|NM_001171623,p.C77F|NM_003376,p.C257F|NM_001025367,p.C257F|ENST00000523873,p.C77F|ENST00000457104,p.C77F|NM_001025368,p.C257F|NM_001171625,p.C77F|ENST00000425836,p.C257F|NM_001025366,p.C257F|NM_001171624,p.C77F|ENST00000520948,p.C77F|ENST00000520265,p.C51F|NM_001171627,p.C77F|ENST00000523125,p.C77F|ENST00000482630,p.C257F|ENST00000417285,p.C257F|ENST00000230480,p.C49F|ENST00000372077,p.C77F|ENST00000518824,p.C77F|NM_001171626,p.C77F|ENST00000413642,p.C257F|NM_001287044,p.C49F|ENST00000372055,p.C257F|NM_001204384,p.C77F|ENST00000324450,p.C257F retained_intron, protein_coding uc003owf.3 nonsynonymous SNV exon3 c.G770T p.C257F YPDEIEYIFKPSCVPLMRCGGCCND YPDEIEYIFKPSFVPLMRCGGCCND 10.0 5.0 - - 4126_6:43745317-43745317 G>T_YPDEIEYIFKPSFVPLMRCGGCCND 0.0 19:11304464-11304464 A>C 0.0 4245 COLORECTAL - - - - KANK2 uc021upe.1,p.S98A|ENST00000586659,p.S98A|ENST00000590685,p.S98A|uc002mqo.4,p.S98A|NM_001136191,p.S98A|ENST00000432929,p.S98A|uc002mqm.3,p.S98A|ENST00000589894,p.S98A|uc002mqq.3,p.S98A|ENST00000355150,p.S98A|ENST00000589359,p.S98A|NM_015493,p.S98A retained_intron, protein_coding, processed_transcript uc021upe.1 nonsynonymous SNV exon3 c.T292G p.S98A SLCSNASGDSRHSAYSYCGRGFYPQ SLCSNASGDSRHAAYSYCGRGFYPQ 9.0 1.0 - - 4245_19:11304464-11304464 A>C_SLCSNASGDSRHAAYSYCGRGFYPQ 0.0 12:97137828-97137828 C>T 0.0 3795 MELANOMA - - - - CDK17,NEDD1 ENST00000524981,p.R981C|uc021rcc.1,p.R955C - uc021rcc.1 nonsynonymous SNV exon22 c.C2863T p.R955C EQMLAFGETIEFRSSNTKYANPLQP EQMLAFGETIEFCSSNTKYANPLQP 1.0 10.0 - - 3795_12:97137828-97137828 C>T_EQMLAFGETIEFCSSNTKYANPLQP 0.0 X:153607870-153607870 A>- 1.0 4237 NSCLC - - - - EMD uc004fkl.3,p.D9fs|ENST00000369835,p.D9fs|ENST00000428228,p.D9fs|NM_000117,p.D9fs|ENST00000369842,p.D9fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004fkl.3 frameshift deletion exon1 c.26delA p.D9fs MDNYADLSDTELTTLLRRYNIP MDNYADLSVPS 9.0 3.0 - - 4237_X:153607870-153607870 A>-_MDNYADLSVPS 0.0 2:213914600-213914600 T>G 0.0 4298 COLORECTAL - - - - IKZF2 ENST00000431520,p.E137D|ENST00000457361,p.E137D|ENST00000342002,p.E143D|uc002vej.3,p.E84D|ENST00000434687,p.E137D|NM_016260,p.E137D|ENST00000413091,p.E137D|uc002vem.3,p.E137D retained_intron, protein_coding, nonsense_mediated_decay uc002vem.3 nonsynonymous SNV exon5 c.A411C p.E137D NVLMVHKRSHTGERPFHCNQCGASF NVLMVHKRSHTGDRPFHCNQCGASF 6.0 6.0 - - 4298_2:213914600-213914600 T>G_NVLMVHKRSHTGDRPFHCNQCGASF 0.0 6:4116148-4116148 T>A 1.0 4266 COLORECTAL - - - - ECI2 uc003mwf.3,p.N382I|uc003mwd.3,p.N352I|NM_001166010,p.N352I|uc003mwe.3,p.N229I|ENST00000361538,p.N352I|NM_006117,p.N352I|uc021yku.1,p.N352I|ENST00000465828,p.N352I|uc003mwc.3,p.N210I|ENST00000380118,p.N382I|ENST00000413766,p.N215I|ENST00000380125,p.N352I|NM_206836,p.N382I retained_intron, protein_coding, nonsense_mediated_decay uc021yku.1 nonsynonymous SNV exon10 c.A1055T p.N352I VLQGRWLSDECTNAVVNFLSRKSKL VLQGRWLSDECTIAVVNFLSRKSKL 9.0 8.0 CD8 - 4266_6:4116148-4116148 T>A_VLQGRWLSDECTIAVVNFLSRKSKL 1.0 7:101006396-101006396 C>T 0.0 4240 BREAST - - - - COL26A1 ENST00000313669,p.S28L|uc003uyo.1,p.S28L retained_intron, protein_coding, polymorphic_pseudogene uc003uyo.1 nonsynonymous SNV exon1 c.C83T p.S28L GSALATGFLYPFSAAALQQHGYPEP GSALATGFLYPFLAAALQQHGYPEP 2.0 8.0 - - 4240_7:101006396-101006396 C>T_GSALATGFLYPFLAAALQQHGYPEP 0.0 16:75589767-75589767 C>A 1.0 4252 COLORECTAL - - - - TMEM231 NM_001077418,p.A82S|ENST00000258173,p.A82S|NM_001077416,p.A135S|ENST00000562410,p.A82S|ENST00000565067,p.A82S|ENST00000398114,p.A111S|ENST00000570006,p.A82S|uc002fem.4,p.A82S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002fem.4 nonsynonymous SNV exon2 c.G244T p.A82S VALLGPESDGFLAWSTFPAFNRLQG VALLGPESDGFLSWSTFPAFNRLQG 7.0 10.0 - - 4252_16:75589767-75589767 C>A_VALLGPESDGFLSWSTFPAFNRLQG 0.0 4:144801564-144801564 C>A 0.0 4259 COLORECTAL - - - - GYPE ENST00000506264,p.G46C protein_coding, nonsense_mediated_decay ENST00000506264 nonsynonymous SNV exon2 c.G136T p.G46C SVTKSYISSQTNGCVIGNIICSDKS SVTKSYISSQTNCCVIGNIICSDKS 2.0 2.0 - - 4259_4:144801564-144801564 C>A_SVTKSYISSQTNCCVIGNIICSDKS 0.0 7:102724251-102724251 A>T 1.0 4252 COLORECTAL - - - - ARMC10 ENST00000428183,p.N123Y|ENST00000425331,p.N88Y|NM_001161010,p.N123Y|uc003vay.2,p.N123Y|uc011kli.2,p.N88Y|ENST00000323716,p.N123Y|uc010lis.2,p.N88Y|NM_001161013,p.N88Y|uc003vbb.2,p.N88Y|NM_031905,p.N123Y|uc003vax.2,p.N88Y|ENST00000454559,p.N88Y|uc003vaw.2,p.N123Y|NM_001161012,p.N88Y|NM_001161011,p.N88Y|ENST00000541300,p.N88Y|ENST00000441711,p.N88Y|ENST00000323735,p.N123Y|NM_001161009,p.N88Y retained_intron, protein_coding, nonsense_mediated_decay uc011kli.2 nonsynonymous SNV exon2 c.A262T p.N88Y PVIIERALITLGNNAAFSVNQAIIR PVIIERALITLGYNAAFSVNQAIIR 9.0 4.0 - - 4252_7:102724251-102724251 A>T_PVIIERALITLGYNAAFSVNQAIIR 0.0 12:53010017-53010017 C>A 0.0 4287 COLORECTAL - - - - KRT73 uc001sas.3,p.G199W|ENST00000305748,p.G199W|NM_175068,p.G199W retained_intron, protein_coding uc001sas.3 nonsynonymous SNV exon2 c.G595T p.G199W ISNLRKQLETLSGDRVRLDSELRSV ISNLRKQLETLSWDRVRLDSELRSV 1.0 10.0 - - 4287_12:53010017-53010017 C>A_ISNLRKQLETLSWDRVRLDSELRSV 0.0 20:20582422-20582422 G>A 1.0 3879 MELANOMA - - - - RALGAPA2 uc010zsg.2,p.P104S|NM_020343,p.P703S|uc002wrz.3,p.P703S|uc002wry.3,p.P318S|ENST00000202677,p.P703S protein_coding, processed_transcript uc010zsg.2 nonsynonymous SNV exon13 c.C310T p.P104S VGRSFSLSWRSHPDVTEPMRFRSAT VGRSFSLSWRSHSDVTEPMRFRSAT 7.0 5.0 - - 3879_20:20582422-20582422 G>A_VGRSFSLSWRSHSDVTEPMRFRSAT 0.0 1:247473692-247473692 G>A 1.0 3466 MELANOMA - - - - ZNF496 ENST00000294753,p.P240S|uc009xgv.3,p.P276S|NM_032752,p.P240S|uc010pyv.1,p.P240S|uc001ico.3,p.P240S|ENST00000366498,p.P276S|ENST00000461277,p.P165S|uc001icq.1,p.P15S protein_coding, processed_transcript uc010pyv.1 nonsynonymous SNV exon4 c.C718T p.P240S LCFSEEDWSLLDPAQTGFYGEFIIG LCFSEEDWSLLDSAQTGFYGEFIIG 7.0 3.0 - - 3466_1:247473692-247473692 G>A_LCFSEEDWSLLDSAQTGFYGEFIIG 0.0 17:19850794-19850794 G>A 1.0 3713 MELANOMA - - - - AKAP10 ENST00000225737,p.T301I|uc010vze.2,p.T222I|uc002gwo.4,p.T301I|uc002gwp.2,p.T279I|uc010cqw.2,p.T279I|NM_007202,p.T301I|ENST00000395536,p.T301I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vze.2 nonsynonymous SNV exon5 c.C665T p.T222I KLMKSIEQDAVNTFTKYISPDAAKP KLMKSIEQDAVNIFTKYISPDAAKP 5.0 10.0 - - 3713_17:19850794-19850794 G>A_KLMKSIEQDAVNIFTKYISPDAAKP 0.0 1:47016746-47016746 C>T 0.0 4046 OVARIAN - - - - KNCN ENST00000481882,p.A48T retained_intron, protein_coding, processed_transcript ENST00000481882 nonsynonymous SNV exon1 c.G142A p.A48T AAAAMGGVFIGAAVLGLLILAYPFL AAAAMGGVFIGATVLGLLILAYPFL 3.0 5.0 - - 4046_1:47016746-47016746 C>T_AAAAMGGVFIGATVLGLLILAYPFL 0.0 19:41627431-41627431 G>A 1.0 4284 COLORECTAL - - - - CYP2F1 NM_000774,p.G185S|ENST00000532164,p.G185S|uc010xvv.1,p.G185S|uc002opu.1,p.G185S|ENST00000331105,p.G185S retained_intron, protein_coding, nonsense_mediated_decay, non_stop_decay uc010xvv.1 nonsynonymous SNV exon5 c.G553A p.G185S RSVSNIICSVLFGSRFDYDDERLLT RSVSNIICSVLFSSRFDYDDERLLT 2.0 8.0 - - 4284_19:41627431-41627431 G>A_RSVSNIICSVLFSSRFDYDDERLLT 0.0 8:42587280-42587280 T>G 0.0 4329 COLORECTAL - - - - CHRNB3 uc003xpi.1,p.V277G|ENST00000289957,p.V277G|NM_000749,p.V277G protein_coding, processed_transcript uc003xpi.1 nonsynonymous SNV exon5 c.T830G p.V277G LSLSTSVLVSLTVFLLVIEEIIPSS LSLSTSVLVSLTGFLLVIEEIIPSS 1.0 5.0 - - 4329_8:42587280-42587280 T>G_LSLSTSVLVSLTGFLLVIEEIIPSS 0.0 2:9728454-9728454 G>A 1.0 4240 BREAST - - - - YWHAQ ENST00000381844,p.T141M|ENST00000238081,p.T141M|NM_006826,p.T141M|uc002qzx.3,p.T141M protein_coding, processed_transcript uc002qzx.3 nonsynonymous SNV exon4 c.C422T p.T141M LAEVACGDDRKQTIDNSQGAYQEAF LAEVACGDDRKQMIDNSQGAYQEAF 10.0 2.0 - - 4240_2:9728454-9728454 G>A_LAEVACGDDRKQMIDNSQGAYQEAF 0.0 12:43944794-43944794 G>A 0.0 4186 BREAST - - ID=COSM3792586,COSM3792587,COSM3792588;OCCURENCE=1(urinary_tract) - ADAMTS20 NM_025003,p.S124L|uc010skx.2,p.S124L|ENST00000553158,p.S124L|ENST00000389420,p.S124L protein_coding uc010skx.2 nonsynonymous SNV exon2 c.C371T p.S124L PERGAWESDAGPSDLRHCFYRGQVN PERGAWESDAGPLDLRHCFYRGQVN 1.0 5.0 - - 4186_12:43944794-43944794 G>A_PERGAWESDAGPLDLRHCFYRGQVN 0.0 15:76630736-76630736 C>T 0.0 4301 MELANOMA - - - - ISL2 NM_145805,p.S131L|ENST00000290759,p.S131L|uc002bbw.1,p.S131L protein_coding, nonsense_mediated_decay uc002bbw.1 nonsynonymous SNV exon3 c.C392T p.S131L VCSRQLLPGDEFSLREHELLCRADH VCSRQLLPGDEFLLREHELLCRADH 5.0 7.0 - - 4301_15:76630736-76630736 C>T_VCSRQLLPGDEFLLREHELLCRADH 0.0 3:118942945-118942945 G>A 1.0 3795 MELANOMA - - ID=COSM445350;OCCURENCE=1(breast) - B4GALT4 NM_003778,p.P212S|ENST00000467604,p.P212S|uc003ech.3,p.P212S|ENST00000359213,p.P212S|uc003eci.3,p.P212S|uc003ecg.3,p.P212S|uc003ece.1,p.P212S|ENST00000480814,p.P212S|ENST00000393765,p.P212S|uc011biy.2,p.P75S|NM_212543,p.P212S|ENST00000483209,p.P212S protein_coding, processed_transcript, nonsense_mediated_decay uc011biy.2 nonsynonymous SNV exon4 c.C223T p.P75S ENDFNLYKCEEHPKHLVVGRNSTGY ENDFNLYKCEEHSKHLVVGRNSTGY 8.0 3.0 - - 3795_3:118942945-118942945 G>A_ENDFNLYKCEEHSKHLVVGRNSTGY 0.0 2:33487859-33487859 C>T 1.0 3713 MELANOMA - - - - LTBP1 uc010ymz.2,p.S504F|uc021vft.1,p.S830F|ENST00000413303,p.S158F|uc002rov.3,p.S451F|ENST00000402934,p.S451F|NM_206943,p.S830F|uc002rou.3,p.S504F|ENST00000407925,p.S504F|NM_001166265,p.S451F|ENST00000404525,p.S451F|ENST00000418533,p.S504F|NM_000627,p.S504F|ENST00000404816,p.S830F|NM_001166264,p.S504F|uc010yna.2,p.S451F|NM_001166266,p.S451F protein_coding, processed_transcript uc021vft.1 nonsynonymous SNV exon14 c.C2489T p.S830F LEPGQPQLSPGISTIHLHPQFPVVI LEPGQPQLSPGIFTIHLHPQFPVVI 4.0 8.0 - - 3713_2:33487859-33487859 C>T_LEPGQPQLSPGIFTIHLHPQFPVVI 0.0 8:144995692-144995692 T>A 1.0 4298 COLORECTAL - - - - PLEC ENST00000345136,p.K2766M|uc003zaf.1,p.K2903M|ENST00000356346,p.K2752M|uc003zab.1,p.K2766M|uc003zac.1,p.K2770M|NM_000445,p.K2793M|uc003zae.1,p.K2734M|ENST00000354958,p.K2744M|NM_201384,p.K2766M|NM_201382,p.K2766M|ENST00000436759,p.K2793M|NM_201381,p.K2734M|uc003zag.1,p.K2744M|uc003zaj.2,p.K2793M|NM_201383,p.K2770M|uc003zah.2,p.K2752M|ENST00000398774,p.K2734M|ENST00000322810,p.K2903M|uc003zad.2,p.K2766M|NM_201379,p.K2744M|ENST00000527096,p.K2789M|NM_201380,p.K2903M|ENST00000357649,p.K2770M|ENST00000354589,p.K2766M|NM_201378,p.K2752M retained_intron, protein_coding uc003zaj.2 nonsynonymous SNV exon33 c.A8378T p.K2793M VKEGVVGPELHHKLLSAERAVTGYK VKEGVVGPELHHMLLSAERAVTGYK 10.0 3.0 - - 4298_8:144995692-144995692 T>A_VKEGVVGPELHHMLLSAERAVTGYK 0.0 3:47035960-47035960 C>T 0.0 4245 COLORECTAL - - - - NBEAL2 uc003cqq.1,p.R371C|NM_015175,p.R405C|ENST00000450053,p.R405C|ENST00000292309,p.R405C|uc003cqp.3,p.R405C retained_intron, protein_coding, nonsense_mediated_decay uc003cqq.1 nonsynonymous SNV exon11 c.C1111T p.R371C SDSPSAKEVFKERIGYPHLQEVLQS SDSPSAKEVFKECIGYPHLQEVLQS 10.0 9.0 CD8 - 4245_3:47035960-47035960 C>T_SDSPSAKEVFKECIGYPHLQEVLQS 1.0 4:5620363-5620363 T>C 0.0 4246 COLORECTAL - - - - EVC2 ENST00000475313,p.R770G|NM_147127,p.R850G|uc003gij.3,p.R850G|NM_001166136,p.R770G|uc003gik.3,p.R770G|ENST00000310917,p.R770G|uc011bwb.2,p.R290G|ENST00000344938,p.R850G|ENST00000344408,p.R850G protein_coding, nonsense_mediated_decay uc011bwb.2 nonsynonymous SNV exon16 c.A868G p.R290G SSVFSLSEEELLRMRQEVHGCFAQM SSVFSLSEEELLGMRQEVHGCFAQM 3.0 1.0 - - 4246_4:5620363-5620363 T>C_SSVFSLSEEELLGMRQEVHGCFAQM 0.0 8:89086857-89086857 C>T 1.0 3466 MELANOMA - - - - MMP16 NM_005941,p.D400N|uc003yeb.4,p.D400N|ENST00000286614,p.D400N retained_intron, protein_coding, processed_transcript uc003yeb.4 nonsynonymous SNV exon7 c.G1198A p.D400N LPPSIDAVYENSDGNFVFFKGNKYW LPPSIDAVYENSNGNFVFFKGNKYW 8.0 8.0 - - 3466_8:89086857-89086857 C>T_LPPSIDAVYENSNGNFVFFKGNKYW 0.0 1:91859811-91859811 A>T 0.0 4259 COLORECTAL - - - - HFM1 NM_001017975,p.N111K retained_intron, protein_coding, processed_transcript NM_001017975 nonsynonymous SNV exon4 c.T333A p.N111K YEQDDLNLEGVGNNDLSHVAGKLTY YEQDDLNLEGVGKNDLSHVAGKLTY 2.0 7.0 - - 4259_1:91859811-91859811 A>T_YEQDDLNLEGVGKNDLSHVAGKLTY 0.0 13:25671865-25671865 C>T 0.0 4326 BREAST - - - - PABPC3 NM_030979,p.A510V|uc001upy.3,p.A510V|ENST00000281589,p.A510V protein_coding uc001upy.3 nonsynonymous SNV exon1 c.C1529T p.A510V PAVRTVPRYKYAAGVRNPQQHRNAQ PAVRTVPRYKYAVGVRNPQQHRNAQ 5.0 10.0 - - 4326_13:25671865-25671865 C>T_PAVRTVPRYKYAVGVRNPQQHRNAQ 0.0 4:55561751-55561751 A>G 1.0 4316 COLORECTAL - - - 1 KIT NM_001093772,p.I47M|uc010igs.3,p.I47M|ENST00000412167,p.I47M|uc010igr.3,p.I47M|ENST00000288135,p.I47M|NM_000222,p.I47M retained_intron, protein_coding uc010igs.3 nonsynonymous SNV exon2 c.A141G p.I47M SPPSIHPGKSDLIVRVGDEIRLLCT SPPSIHPGKSDLMVRVGDEIRLLCT 7.0 10.0 - - 4316_4:55561751-55561751 A>G_SPPSIHPGKSDLMVRVGDEIRLLCT 0.0 6:168442754-168442754 C>T 0.0 4110 BILE DUCT - - - - KIF25 NM_030615,p.P251L|uc003qwl.1,p.P251L|ENST00000351261,p.P251L|uc003qwk.1,p.P251L|NM_005355,p.P251L|ENST00000443060,p.P251L|ENST00000354419,p.P251L retained_intron, protein_coding, processed_transcript uc003qwl.1 nonsynonymous SNV exon7 c.C752T p.P251L RASQGALAPQLVPGNPAGHAEQVQA RASQGALAPQLVLGNPAGHAEQVQA 4.0 9.0 - - 4110_6:168442754-168442754 C>T_RASQGALAPQLVLGNPAGHAEQVQA 0.0 22:31495831-31495831 T>G 1.0 4345 COLORECTAL - - - - SMTN ENST00000347557,p.L851R|uc003ajl.2,p.L851R|uc003ajm.2,p.L851R|uc010gwe.2,p.L231R|NM_134270,p.L851R|uc003ajk.2,p.L851R|ENST00000404574,p.L374R|ENST00000358743,p.L851R|uc003ajn.2,p.L874R|NM_134269,p.L851R|uc003ajo.2,p.L374R|NM_006932,p.L851R|NM_001207017,p.L936R|uc011alf.2,p.L907R|ENST00000333137,p.L851R|uc011alg.2,p.L307R|uc011ale.2,p.L936R|NM_001207018,p.L907R retained_intron, protein_coding, processed_transcript uc011alg.2 nonsynonymous SNV exon9 c.T920G p.L307R HNFFPEAFDYGQLSPQNRRQNFEVA HNFFPEAFDYGQRSPQNRRQNFEVA 10.0 5.0 - - 4345_22:31495831-31495831 T>G_HNFFPEAFDYGQRSPQNRRQNFEVA 0.0 4:90857287-90857287 A>G 0.0 2591 MELANOMA - - - - MMRN1 ENST00000508372,p.N561S|uc003hst.3,p.N819S|ENST00000264790,p.N819S|uc011cds.2,p.N561S|NM_007351,p.N819S|ENST00000394980,p.N819S retained_intron, protein_coding uc011cds.2 nonsynonymous SNV exon6 c.A1682G p.N561S AGIPRDEKLNQSNFQKMYQMFNETT AGIPRDEKLNQSSFQKMYQMFNETT 1.0 10.0 - - 2591_4:90857287-90857287 A>G_AGIPRDEKLNQSSFQKMYQMFNETT 0.0 X:122599628-122599628 G>A 0.0 4316 COLORECTAL - - - - GRIA3 ENST00000371251,p.G810S|NM_000828,p.G810S|ENST00000264357,p.G810S|uc004etr.4,p.G810S protein_coding, processed_transcript uc004etr.4 nonsynonymous SNV exon14 c.G2428A p.G810S WWYDKGECGSGGGDSKDKTSALSLS WWYDKGECGSGGSDSKDKTSALSLS 2.0 6.0 - - 4316_X:122599628-122599628 G>A_WWYDKGECGSGGSDSKDKTSALSLS 0.0 1:55183169-55183169 G>T 1.0 4237 NSCLC - - - - TTC4 uc001cxx.4,p.Q78H|uc001cxv.3,p.Q89H|NM_001291333,p.Q78H|NM_004623,p.Q78H|ENST00000371281,p.Q78H retained_intron, protein_coding uc001cxx.4 nonsynonymous SNV exon3 c.G234T p.Q78H SIIFDEERSPEEQAKTYKDEGNDYF SIIFDEERSPEEHAKTYKDEGNDYF 8.0 6.0 - - 4237_1:55183169-55183169 G>T_SIIFDEERSPEEHAKTYKDEGNDYF 0.0 19:58132004-58132004 C>A 1.0 4160 COLORECTAL - - - - ZNF134 NM_003435,p.Q173K|uc002qpn.2,p.Q173K|ENST00000396161,p.Q173K protein_coding, processed_transcript uc002qpn.2 nonsynonymous SNV exon3 c.C517A p.Q173K RSTESGDAFHGEQMHYKCSECGKAF RSTESGDAFHGEKMHYKCSECGKAF 6.0 8.0 - - 4160_19:58132004-58132004 C>A_RSTESGDAFHGEKMHYKCSECGKAF 0.0 15:23000161-23000216 GGCGTTTTGCTGTGCTGGATTTCTGCTACCATCTACTTAAAGTCCAGAAACATGAT>- 0.0 4258 ENDOMETRIAL - - - - CYFIP1 uc001yus.3,p.R1172fs|NM_001287810,p.R1172fs|ENST00000560848,p.R1172fs|NM_001033028,p.R741fs|uc001yuu.3,p.R741fs|NM_014608,p.R1172fs|ENST00000435939,p.R741fs|ENST00000561263,p.R146fs|uc001yut.3,p.R1172fs|uc001yuv.3,p.R366fs|ENST00000313077,p.R1172fs retained_intron, protein_coding, nonsense_mediated_decay uc001yuv.3 frameshift deletion exon9 c.1097_1152del p.R366fs AGCMIIVLLGQQRRFAVLDFCYHLL AGCMIIVLLGQQRQR 9.0 1.0 - - 4258_15:23000161-23000216 GGCGTTTTGCTGTGCTGGATTTCTGCTACCATCTACTTAAAGTCCAGAAACATGAT>-_AGCMIIVLLGQQRQR 0.0 15:86278850-86278850 G>A 1.0 2369 MELANOMA - - - - AKAP13 ENST00000394518,p.G2501S|uc002blv.2,p.G2501S|uc002blx.2,p.G746S|uc031qtl.1,p.G1122S|NM_006738,p.G2505S|ENST00000394510,p.G746S|uc002blw.2,p.G966S|ENST00000361243,p.G2505S|NM_001270546,p.G1122S|uc002blu.2,p.G2505S|NM_007200,p.G2501S retained_intron, protein_coding, processed_transcript uc031qtl.1 nonsynonymous SNV exon24 c.G3364A p.G1122S DGQDLRRTESDSGLKKGGNANLVFM DGQDLRRTESDSSLKKGGNANLVFM 8.0 6.0 - - 2369_15:86278850-86278850 G>A_DGQDLRRTESDSSLKKGGNANLVFM 0.0 19:10444159-10444159 G>A 1.0 4240 BREAST - - - - RAVER1 ENST00000293677,p.H26Y|uc002moa.3,p.H26Y|NM_133452,p.H26Y retained_intron, protein_coding, nonsense_mediated_decay uc002moa.3 nonsynonymous SNV exon1 c.C76T p.H26Y GFPKMAADVSVTHRPPLSPKSGAEV GFPKMAADVSVTYRPPLSPKSGAEV 7.0 10.0 - - 4240_19:10444159-10444159 G>A_GFPKMAADVSVTYRPPLSPKSGAEV 0.0 12:13716111-13716111 G>A 0.0 4301 MELANOMA - - - - GRIN2B ENST00000279593,p.S1354F|uc001rbt.2,p.S1354F|NM_000834,p.S1354F protein_coding uc001rbt.2 nonsynonymous SNV exon13 c.C4061T p.S1354F MSAGESTFANNKSSVPTAGHHHHNN MSAGESTFANNKFSVPTAGHHHHNN 3.0 6.0 - - 4301_12:13716111-13716111 G>A_MSAGESTFANNKFSVPTAGHHHHNN 0.0 1:41475120-41475120 A>T 1.0 4237 NSCLC - - - - CTPS1 ENST00000541520,p.H286L|uc001cgl.4,p.H517L|ENST00000372616,p.H517L|uc001cgk.4,p.H517L|NM_001301237,p.H361L|uc010ojq.2,p.H361L|NM_001905,p.H517L|uc010ojo.2,p.H286L|ENST00000372621,p.H517L protein_coding, processed_transcript uc010ojq.2 nonsynonymous SNV exon13 c.A1082T p.H361L EGERMEIVELEDHPFFVGVQYHPEF EGERMEIVELEDLPFFVGVQYHPEF 9.0 6.0 - - 4237_1:41475120-41475120 A>T_EGERMEIVELEDLPFFVGVQYHPEF 0.0 17:7577539-7577539 G>A 1.0 4266 COLORECTAL - - ID=COSM3388183,COSM120007,COSM120006,COSM10656,COSM120005,COSM1640831;OCCURENCE=61(breast),26(skin),9(biliary_tract),144(large_intestine),4(prostate),4(liver),2(kidney),11(pancreas),21(urinary_tract),31(ovary),4(soft_tissue),20(endometrium),20(lung),1(penis),4(thyroid),27(haematopoietic_and_lymphoid_tissue),1(pleura),1(cervix),28(stomach),33(central_nervous_system),45(oesophagus),1(vulva),1(bone),21(upper_aerodigestive_tract),1(NS) 1 TP53 NM_001126117,p.R116W|ENST00000413465,p.R248W|NM_001276760,p.R209W|NM_000546,p.R248W|ENST00000269305,p.R248W|ENST00000509690,p.R116W|uc002gin.3,p.R155W|NM_001126114,p.R248W|uc002gij.3,p.R209W|NM_001126116,p.R116W|NM_001276698,p.R89W|ENST00000455263,p.R248W|ENST00000420246,p.R248W|uc002gih.3,p.R248W|NM_001126115,p.R116W|uc002gii.2,p.R89W|NM_001276697,p.R89W|ENST00000445888,p.R248W|uc031qyq.1,p.R209W|uc002gig.1,p.R248W|NM_001276695,p.R209W|NM_001126112,p.R248W|NM_001126118,p.R209W|ENST00000359597,p.R248W|NM_001276761,p.R209W|NM_001126113,p.R248W|uc010cng.2,p.R89W|uc010cnf.2,p.R89W|NM_001276696,p.R209W|uc002gio.3,p.R116W|NM_001276699,p.R89W retained_intron, protein_coding, processed_transcript uc031qyq.1 nonsynonymous SNV exon6 c.C625T p.R209W YMCNSSCMGGMNRRPILTIITLEDS YMCNSSCMGGMNWRPILTIITLEDS 10.0 10.0 CD8 - 4266_17:7577539-7577539 G>A_YMCNSSCMGGMNWRPILTIITLEDS 1.0 19:7592463-7592463 C>T 1.0 3919 MELANOMA - - - - MCOLN1 ENST00000264079,p.T210I|uc002mgo.3,p.T210I|NM_020533,p.T210I retained_intron, protein_coding uc002mgo.3 nonsynonymous SNV exon5 c.C629T p.T210I PERPPPPPSDDLTLLESSSSYKNLT PERPPPPPSDDLILLESSSSYKNLT 8.0 7.0 - - 3919_19:7592463-7592463 C>T_PERPPPPPSDDLILLESSSSYKNLT 0.0 16:57073734-57073734 C>T 1.0 3713 MELANOMA - - - - NLRC5 uc021tiv.1,p.P753L|uc021tiw.1,p.P753L|ENST00000436936,p.P948L|ENST00000308149,p.P948L|ENST00000262510,p.P948L|ENST00000543030,p.P247L|uc021tiu.1,p.P948L|ENST00000538110,p.P455L|ENST00000539144,p.P948L|ENST00000538453,p.P99L|NM_032206,p.P948L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021tiw.1 nonsynonymous SNV exon11 c.C2258T p.P753L QHKTVIFMFAQEPEEQKGPQERAAF QHKTVIFMFAQELEEQKGPQERAAF 10.0 9.0 - - 3713_16:57073734-57073734 C>T_QHKTVIFMFAQELEEQKGPQERAAF 0.0 15:89389047-89389047 G>A 1.0 3919 MELANOMA - - - - ACAN uc010upp.1,p.A455T|ENST00000561243,p.A455T|NM_013227,p.A455T|ENST00000352105,p.A455T|ENST00000559004,p.A455T|ENST00000439576,p.A455T|uc010upo.1,p.A455T|ENST00000558207,p.A455T|NM_001135,p.A455T|uc002bmx.3,p.A455T retained_intron, protein_coding uc010upp.1 nonsynonymous SNV exon7 c.G1363A p.A455T WGFPTPGLGPATAFTSEDLVVQVTA WGFPTPGLGPATTFTSEDLVVQVTA 4.0 10.0 - - 3919_15:89389047-89389047 G>A_WGFPTPGLGPATTFTSEDLVVQVTA 0.0 5:13844951-13844951 C>T 0.0 2591 MELANOMA 0.0014 - - - DNAH5 uc003jfd.2,p.E1756K|ENST00000265104,p.E1756K|NM_001369,p.E1756K retained_intron, protein_coding, processed_transcript uc003jfd.2 nonsynonymous SNV exon32 c.G5266A p.E1756K NVFDNIKSVKFHEKIYDRILSISSQ NVFDNIKSVKFHKKIYDRILSISSQ 1.0 5.0 - - 2591_5:13844951-13844951 C>T_NVFDNIKSVKFHKKIYDRILSISSQ 0.0 6:116818135-116818135 ->G 0.0 4158 COLORECTAL - - - - TRAPPC3L uc003pww.3,p.K92fs|ENST00000437098,p.K162fs|ENST00000356128,p.K92fs|uc011ebh.2,p.K176fs|uc003pwx.3,p.K92fs|NM_001139444,p.K176fs|ENST00000368602,p.K176fs protein_coding uc011ebh.2 frameshift insertion exon5 c.527_528insC p.K176fs IGITFLKKRDEKKYRGKK IGITFLKKRDEKNI 6.0 4.0 - - 4158_6:116818135-116818135 ->G_IGITFLKKRDEKNI 0.0 1:94471011-94471011 C>T 0.0 3775 CERVICAL - - - - ABCA4 uc001dqh.3,p.E2045K|NM_000350,p.E2045K|uc001dqi.1,p.E164K|ENST00000536513,p.E315K|ENST00000535881,p.E164K|ENST00000370225,p.E2045K protein_coding, processed_transcript uc001dqi.1 nonsynonymous SNV exon5 c.G490A p.E164K LYLYARLRGVPAEEIEKVANWSIKS LYLYARLRGVPAKEIEKVANWSIKS 1.0 5.0 - - 3775_1:94471011-94471011 C>T_LYLYARLRGVPAKEIEKVANWSIKS 0.0 19:6669933-6669933 C>T 0.0 4281 COLORECTAL - - ID=COSM1564942;OCCURENCE=1(large_intestine) - TNFSF14 ENST00000599359,p.G50R|NM_003807,p.G50R|uc002mfk.2,p.G50R protein_coding uc002mfk.2 nonsynonymous SNV exon2 c.G148A p.G50R VGLGLLLLLMGAGLAVQGWFLLQLH VGLGLLLLLMGARLAVQGWFLLQLH 3.0 2.0 - - 4281_19:6669933-6669933 C>T_VGLGLLLLLMGARLAVQGWFLLQLH 0.0 5:140594968-140594968 G>A 1.0 3713 MELANOMA - - - - PCDHB13 NM_018933,p.D425N|ENST00000341948,p.D425N|uc003lja.1,p.D425N protein_coding uc003lja.1 nonsynonymous SNV exon1 c.G1273A p.D425N SRAEYNITITVTDLGTPMLITQLNM SRAEYNITITVTNLGTPMLITQLNM 2.0 9.0 - - 3713_5:140594968-140594968 G>A_SRAEYNITITVTNLGTPMLITQLNM 0.0 5:31302286-31302286 G>A 0.0 3903 MELANOMA - - - - CDH6 NM_004932,p.D294N|ENST00000514738,p.D239N|uc003jhd.2,p.D294N|uc003jhe.2,p.D294N|ENST00000265071,p.D294N retained_intron, protein_coding uc003jhe.2 nonsynonymous SNV exon6 c.G880A p.D294N PPGTPIGRIKASDADVGENAEIEYS PPGTPIGRIKASNADVGENAEIEYS 4.0 5.0 - - 3903_5:31302286-31302286 G>A_PPGTPIGRIKASNADVGENAEIEYS 0.0 17:37900397-37900397 G>C 0.0 4149 OVARIAN - - - - GRB7 NM_005310,p.W246C|ENST00000445327,p.W269C|uc021twu.1,p.W269C|ENST00000309185,p.W246C|uc002hsr.3,p.W246C|uc002hss.3,p.W246C|ENST00000394211,p.W246C|ENST00000394209,p.W246C|ENST00000394204,p.W246C|uc010cwc.3,p.W246C|NM_001242443,p.W246C|NM_001030002,p.W246C|uc002hst.3,p.W246C|NM_001242442,p.W269C|ENST00000309156,p.W246C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021twu.1 nonsynonymous SNV exon7 c.G807C p.W269C GFLQLRGSGRKLWKRFFCFLRRSGL GFLQLRGSGRKLCKRFFCFLRRSGL 4.0 9.0 - - 4149_17:37900397-37900397 G>C_GFLQLRGSGRKLCKRFFCFLRRSGL 0.0 14:20928939-20928939 G>A 1.0 4155 MELANOMA - - - - TMEM55B uc001vxk.2,p.P77S|NM_144568,p.P70S|NM_001100814,p.P77S|ENST00000250489,p.P70S|uc001vxl.2,p.P70S|ENST00000398020,p.P77S retained_intron, protein_coding uc001vxl.2 nonsynonymous SNV exon2 c.C208T p.P70S AVLPGEDPPPYSPLTSPDSGSAPMI AVLPGEDPPPYSSLTSPDSGSAPMI 8.0 8.0 - - 4155_14:20928939-20928939 G>A_AVLPGEDPPPYSSLTSPDSGSAPMI 0.0 20:16360121-16360121 G>C 1.0 4317 COLORECTAL - - - - KIF16B uc002wpf.1,p.D224E|ENST00000354981,p.D842E|uc002wpe.1,p.D224E|uc002wpg.2,p.D842E|NM_001199865,p.D842E|uc010gcj.2,p.D853E|uc010gci.2,p.D842E|ENST00000408042,p.D842E|ENST00000378003,p.D68E|ENST00000355755,p.D842E|uc010gch.2,p.D842E|NM_024704,p.D842E|NM_001199866,p.D842E protein_coding uc010gcj.2 nonsynonymous SNV exon20 c.C2559G p.D853E RRQLVKLVNLEKDLVQQKDILKKEV RRQLVKLVNLEKELVQQKDILKKEV 9.0 1.0 - - 4317_20:16360121-16360121 G>C_RRQLVKLVNLEKELVQQKDILKKEV 0.0 X:7243418-7243418 C>T 1.0 3713 MELANOMA - - - - STS NM_000351,p.P379S|ENST00000217961,p.P379S|uc004cry.4,p.P379S protein_coding uc004cry.4 nonsynonymous SNV exon8 c.C1135T p.P379S GKANNWEGGIRVPGILRWPRVIQAG GKANNWEGGIRVSGILRWPRVIQAG 4.0 10.0 - - 3713_X:7243418-7243418 C>T_GKANNWEGGIRVSGILRWPRVIQAG 0.0 3:121207970-121207970 G>A 1.0 2556 MELANOMA - - - 1 POLQ uc003eed.3,p.P442S|uc003eee.4,p.P1270S|NM_199420,p.P1270S|ENST00000264233,p.P1270S protein_coding, processed_transcript uc003eee.4 nonsynonymous SNV exon16 c.C3808T p.P1270S DISRTVIPSEVLPSAGAFSKSEGQH DISRTVIPSEVLSSAGAFSKSEGQH 6.0 7.0 - - 2556_3:121207970-121207970 G>A_DISRTVIPSEVLSSAGAFSKSEGQH 0.0 19:10568698-10568698 T>G 0.0 4317 COLORECTAL - - - - PDE4A uc002moj.2,p.L341V|NM_001111307,p.L341V|ENST00000592685,p.L319V|ENST00000344979,p.L102V|ENST00000352831,p.L341V|ENST00000591971,p.L117V|ENST00000293683,p.L315V|NM_006202,p.L102V|uc002mok.2,p.L315V|uc021uow.1,p.L319V|uc002mom.2,p.L102V|NM_001111309,p.L280V|uc002mol.2,p.L280V|NM_001243121,p.L319V|ENST00000380702,p.L319V|NM_001111308,p.L315V|ENST00000440014,p.L280V retained_intron, protein_coding, nonsense_mediated_decay uc021uow.1 nonsynonymous SNV exon10 c.T955G p.L319V LQPMSQITGLKKLMHSNSLNNSNIP LQPMSQITGLKKVMHSNSLNNSNIP 8.0 3.0 - - 4317_19:10568698-10568698 T>G_LQPMSQITGLKKVMHSNSLNNSNIP 0.0 9:79325538-79325538 G>A 1.0 3713 MELANOMA - - - - PRUNE2 ENST00000376718,p.S551F|uc022bih.1,p.S373F|NM_015225,p.S551F|ENST00000428286,p.S192F|uc010mpk.3,p.S551F protein_coding, processed_transcript uc022bih.1 nonsynonymous SNV exon7 c.C1118T p.S373F LDGMGTNMSNYSSSSLLSGAGKDSL LDGMGTNMSNYSFSSLLSGAGKDSL 2.0 5.0 - - 3713_9:79325538-79325538 G>A_LDGMGTNMSNYSFSSLLSGAGKDSL 0.0 3:186262111-186262111 G>C 1.0 4329 COLORECTAL - - - - CRYGS uc003fqe.3,p.S2C|ENST00000392499,p.S2C|uc031scs.1,p.S2C|ENST00000307944,p.S2C|NM_017541,p.S2C retained_intron, protein_coding uc031scs.1 nonsynonymous SNV exon2 c.C5G p.S2C MSKTGTKITFYEDK MCKTGTKITFYEDK 4.0 1.0 - - 4329_3:186262111-186262111 G>C_MCKTGTKITFYEDK 0.0 13:32878059-32878059 C>A 0.0 2359 MELANOMA - - - - ZAR1L NM_001136571,p.R308I|ENST00000345108,p.R308I|ENST00000533490,p.R308I|uc010abc.1,p.R308I protein_coding uc010abc.1 nonsynonymous SNV exon4 c.G923T p.R308I HRQELCGRCKDKRFSCGNIYSFKYV HRQELCGRCKDKIFSCGNIYSFKYV 3.0 3.0 - - 2359_13:32878059-32878059 C>A_HRQELCGRCKDKIFSCGNIYSFKYV 0.0 17:73625056-73625056 G>A 1.0 3678 MELANOMA - - - - RECQL5 NM_004259,p.P816L|ENST00000582548,p.P156L|uc010dgk.3,p.P789L|ENST00000423245,p.P789L|ENST00000317905,p.P816L|uc010dgl.3,p.P816L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010dgl.3 nonsynonymous SNV exon16 c.C2447T p.P816L YTGEEDGAGGHSPAPPQTEECLRER YTGEEDGAGGHSLAPPQTEECLRER 8.0 8.0 CD8 - 3678_17:73625056-73625056 G>A_YTGEEDGAGGHSLAPPQTEECLRER 1.0 5:33637697-33637697 G>T 0.0 4186 BREAST - - - - ADAMTS12 NM_030955,p.P625T|ENST00000504830,p.P625T|uc003jia.1,p.P625T protein_coding, processed_transcript uc003jia.1 nonsynonymous SNV exon12 c.C1873A p.P625T TVPYKNELYHWFPIFNPAHPCELYC TVPYKNELYHWFTIFNPAHPCELYC 5.0 4.0 - - 4186_5:33637697-33637697 G>T_TVPYKNELYHWFTIFNPAHPCELYC 0.0 3:155571624-155571624 C>G 1.0 4126 NSCLC - - - - SLC33A1 NM_004733,p.D55H|uc003fan.4,p.D55H|ENST00000359479,p.D55H|NM_001190992,p.D55H|ENST00000392845,p.D55H|uc003fao.2,p.D55H protein_coding, processed_transcript, nonsense_mediated_decay uc003fao.2 nonsynonymous SNV exon1 c.G163C p.D55H AGREGDREALLGDTGTGDFLKAPQS AGREGDREALLGHTGTGDFLKAPQS 7.0 7.0 - - 4126_3:155571624-155571624 C>G_AGREGDREALLGHTGTGDFLKAPQS 0.0 14:105414443-105414443 C>T 1.0 4196 COLORECTAL - - - - AHNAK2 NM_138420,p.V2449M|uc010axc.1,p.V2449M|ENST00000333244,p.V2449M|uc001ypx.2,p.V2349M retained_intron, protein_coding uc010axc.1 nonsynonymous SNV exon7 c.G7345A p.V2449M VMAPDVEVSQPSVEVDVEAPGAKLD VMAPDVEVSQPSMEVDVEAPGAKLD 7.0 10.0 - - 4196_14:105414443-105414443 C>T_VMAPDVEVSQPSMEVDVEAPGAKLD 0.0 12:112609047-112609047 G>C 1.0 3713 MELANOMA - - - - HECTD4 uc021reb.1,p.R3802G|NM_001109662,p.R3802G|ENST00000377560,p.R3764G|ENST00000550722,p.R3790G|ENST00000430131,p.R3514G retained_intron, protein_coding, processed_transcript uc021reb.1 nonsynonymous SNV exon68 c.C11404G p.R3802G VACLLNVPIESLRLRFALLQSLNTT VACLLNVPIESLGLRFALLQSLNTT 4.0 9.0 - - 3713_12:112609047-112609047 G>C_VACLLNVPIESLGLRFALLQSLNTT 0.0 14:102675789-102675789 C>T 1.0 3784 MELANOMA - - - - WDR20 ENST00000335263,p.P428S|ENST00000556807,p.P367S|ENST00000454394,p.P459S|ENST00000556511,p.P367S|uc001ylf.3,p.P440S|NM_001242418,p.P440S|NM_001242416,p.P367S|uc010txu.2,p.P459S|uc001ylb.3,p.P367S|uc001yle.3,p.P367S|NM_181291,p.P428S|NM_181308,p.P367S|ENST00000499851,p.P171S|NM_001242417,p.P459S|ENST00000342702,p.P428S|uc001yld.3,p.P428S|uc001ykz.3,p.P428S|ENST00000545563,p.P255S|ENST00000424963,p.P304S|NM_144574,p.P428S protein_coding, processed_transcript, nonsense_mediated_decay uc010txu.2 nonsynonymous SNV exon4 c.C1375T p.P459S NSVTTPGNSVPPPLPRSNSLPHSAV NSVTTPGNSVPPSLPRSNSLPHSAV 8.0 2.0 - - 3784_14:102675789-102675789 C>T_NSVTTPGNSVPPSLPRSNSLPHSAV 0.0 12:12315300-12315300 G>T 1.0 3466 MELANOMA - - - - LRP6 uc010shl.1,p.F702L|uc001rah.4,p.F702L|ENST00000543091,p.F702L|ENST00000261349,p.F702L|NM_002336,p.F702L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010shl.1 nonsynonymous SNV exon10 c.C2106A p.F702L FMNGSALEHVVEFGLDYPEGMAVDW FMNGSALEHVVELGLDYPEGMAVDW 9.0 4.0 - - 3466_12:12315300-12315300 G>T_FMNGSALEHVVELGLDYPEGMAVDW 0.0 3:78688924-78688924 C>T 0.0 4346 COLORECTAL - - - - ROBO1 NM_133631,p.D958N|uc003dqb.2,p.D964N|uc003dqd.2,p.D958N|uc011bgl.1,p.D575N|uc003dqe.2,p.D1003N|uc010hoh.2,p.D195N|ENST00000436010,p.D964N|NM_002941,p.D1003N|ENST00000495273,p.D958N|ENST00000464233,p.D1003N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bgl.1 nonsynonymous SNV exon12 c.G1723A p.D575N SISCCTAGNGNSDSNLTTYSRPADC SISCCTAGNGNSNSNLTTYSRPADC 5.0 4.0 - - 4346_3:78688924-78688924 C>T_SISCCTAGNGNSNSNLTTYSRPADC 0.0 4:184626176-184626176 C>G 1.0 3713 MELANOMA - - - - TRAPPC11 NM_021942,p.T1003S|uc003ivy.3,p.T609S|ENST00000334690,p.T1003S|uc003ivx.3,p.T1003S|uc010isc.3,p.T347S|ENST00000357207,p.T1003S|uc003ivw.3,p.T1003S|ENST00000512476,p.T609S|NM_199053,p.T1003S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010isc.3 nonsynonymous SNV exon15 c.C1040G p.T347S AMENIPIITTVITLPHVIVENIPLH AMENIPIITTVISLPHVIVENIPLH 6.0 4.0 - - 3713_4:184626176-184626176 C>G_AMENIPIITTVISLPHVIVENIPLH 0.0 14:52509643-52509643 G>C 0.0 4316 COLORECTAL - - - - NID2 uc001wzp.3,p.T479R|uc010tqs.2,p.T479R|ENST00000216286,p.T479R|NM_007361,p.T479R|uc001wzo.3,p.T479R|ENST00000541773,p.T426R|uc010tqt.1,p.T479R retained_intron, protein_coding uc010tqt.1 nonsynonymous SNV exon6 c.C1436G p.T479R LEDNIGSNTEVFTYNAANKETCEHN LEDNIGSNTEVFRYNAANKETCEHN 4.0 7.0 - - 4316_14:52509643-52509643 G>C_LEDNIGSNTEVFRYNAANKETCEHN 0.0 7:38534086-38534086 C>T 1.0 4000 MELANOMA - - - - AMPH uc003tgu.3,p.E83K|ENST00000428293,p.E83K|NM_139316,p.E83K|ENST00000325590,p.E83K|uc003tgv.3,p.E83K|NM_001635,p.E83K|ENST00000356264,p.E83K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003tgv.3 nonsynonymous SNV exon4 c.G247A p.E83K QEASMKLTESLHEVYEPDWYGREDV QEASMKLTESLHKVYEPDWYGREDV 6.0 8.0 CD8 - 4000_7:38534086-38534086 C>T_QEASMKLTESLHKVYEPDWYGREDV 1.0 16:3065461-3065461 C>T 0.0 2591 MELANOMA - - - - CLDN6 uc021tbb.1,p.G188R|ENST00000396925,p.G188R|NM_021195,p.G188R|uc002csu.4,p.G188R|ENST00000328796,p.G188R protein_coding, nonsense_mediated_decay uc021tbb.1 nonsynonymous SNV exon1 c.G562A p.G188R LGGGLLCCTCPSGGSQGPSHYMARY LGGGLLCCTCPSRGSQGPSHYMARY 1.0 7.0 - - 2591_16:3065461-3065461 C>T_LGGGLLCCTCPSRGSQGPSHYMARY 0.0 5:140723728-140723728 C>T 0.0 3713 MELANOMA - - - - PCDHGA3 ENST00000253812,p.S43F|NM_018916,p.S43F|NM_032011,p.S43F|uc003ljm.2,p.S43F|uc011dap.2,p.S43F protein_coding uc011dap.2 nonsynonymous SNV exon1 c.C128T p.S43F IRYSVSEELDKGSFVGNIANDLGLE IRYSVSEELDKGFFVGNIANDLGLE 3.0 9.0 - - 3713_5:140723728-140723728 C>T_IRYSVSEELDKGFFVGNIANDLGLE 0.0 19:7532455-7532455 G>A 1.0 4266 COLORECTAL - - - - ARHGEF18 uc002mgh.3,p.R776Q|uc002mgj.1,p.R571Q|uc010xjm.1,p.R776Q|NM_015318,p.R776Q|uc002mgi.3,p.R934Q|ENST00000319670,p.R776Q|ENST00000359920,p.R934Q|NM_001130955,p.R934Q protein_coding uc010xjm.1 nonsynonymous SNV exon18 c.G2327A p.R776Q ERQRQAYQHDLERLREAQRAVERER ERQRQAYQHDLEQLREAQRAVERER 7.0 10.0 - - 4266_19:7532455-7532455 G>A_ERQRQAYQHDLEQLREAQRAVERER 0.0 16:58325019-58325019 G>A 0.0 3903 MELANOMA - - - - PRSS54 uc002enf.3,p.S36F|NM_001080492,p.S36F|ENST00000567164,p.S36F|ENST00000219301,p.S36F|ENST00000569727,p.S36F|uc002eng.3,p.S36F protein_coding, processed_transcript uc002eng.3 nonsynonymous SNV exon4 c.C107T p.S36F LYSSTSCGVQKASVFYGPDPKEGLV LYSSTSCGVQKAFVFYGPDPKEGLV 1.0 7.0 - - 3903_16:58325019-58325019 G>A_LYSSTSCGVQKAFVFYGPDPKEGLV 0.0 X:151128413-151128413 C>T 0.0 2591 MELANOMA - - - - GABRE uc004ffi.3,p.E228K|ENST00000370325,p.E228K|ENST00000370328,p.E228K|NM_004961,p.E228K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004ffi.3 nonsynonymous SNV exon6 c.G682A p.E228K FSYPENEMIYKWENFKLEINEKNSW FSYPENEMIYKWKNFKLEINEKNSW 1.0 10.0 - - 2591_X:151128413-151128413 C>T_FSYPENEMIYKWKNFKLEINEKNSW 0.0 4:100532596-100532596 C>A 1.0 4213 COLORECTAL - - - - MTTP ENST00000511045,p.L686I|uc011cej.2,p.L686I|uc003hvc.4,p.L659I|NM_001300785,p.L686I|ENST00000457717,p.L659I|ENST00000265517,p.L659I|NM_000253,p.L659I protein_coding, nonsense_mediated_decay uc011cej.2 nonsynonymous SNV exon14 c.C2056A p.L686I NLNIFQYIGKAGLHGSQVVIEAQGL NLNIFQYIGKAGIHGSQVVIEAQGL 4.0 8.0 - - 4213_4:100532596-100532596 C>A_NLNIFQYIGKAGIHGSQVVIEAQGL 0.0 19:1109340-1109340 C>G 1.0 4237 NSCLC - - - - SBNO2 ENST00000438103,p.R1043P|ENST00000587024,p.R1090P|ENST00000361757,p.R1100P|uc002lrj.4,p.R1043P|uc002lrk.4,p.R1100P|uc010dse.3,p.R1083P|NM_014963,p.R1100P|NM_001100122,p.R1043P retained_intron, protein_coding uc010dse.3 nonsynonymous SNV exon29 c.G3248C p.R1083P GQFFTVYKPNIGRQSQLEALDSLRR GQFFTVYKPNIGPQSQLEALDSLRR 10.0 2.0 - - 4237_19:1109340-1109340 C>G_GQFFTVYKPNIGPQSQLEALDSLRR 0.0 3:41274911-41274911 T>A 1.0 2591 MELANOMA - - ID=COSM131449;OCCURENCE=1(kidney),1(liver),1(large_intestine),1(prostate) 1 CTNNB1 ENST00000396185,p.N387K|ENST00000405570,p.N387K|NM_001098209,p.N387K|uc010hia.1,p.N387K|uc011azf.1,p.N380K|ENST00000453024,p.N380K|uc003ckq.2,p.N387K|uc003ckp.2,p.N387K|ENST00000396183,p.N387K|uc011azg.1,p.N315K|ENST00000349496,p.N387K|NM_001098210,p.N387K|NM_001904,p.N387K|uc003ckr.2,p.N387K retained_intron, protein_coding, processed_transcript uc011azg.1 nonsynonymous SNV exon8 c.T945A p.N315K QRLVQNCLWTLRNLSDAATKQEGME QRLVQNCLWTLRKLSDAATKQEGME 10.0 7.0 - - 2591_3:41274911-41274911 T>A_QRLVQNCLWTLRKLSDAATKQEGME 0.0 1:156715098-156715098 G>A 1.0 4000 MELANOMA - - - - HDGF ENST00000416666,p.T20I|ENST00000368206,p.T68I|ENST00000357325,p.T52I|uc009wsf.3,p.T20I|uc009wsd.3,p.T20I|NM_001126051,p.T45I|uc010phr.2,p.T68I|uc009wse.3,p.T68I|ENST00000537739,p.T52I|ENST00000368209,p.T45I|NM_001126050,p.T68I|uc001fpy.4,p.T52I|uc001fpz.4,p.T45I|NM_004494,p.T52I protein_coding, processed_transcript uc010phr.2 nonsynonymous SNV exon2 c.C203T p.T68I STANKYQVFFFGTHETAFLGPKDLF STANKYQVFFFGIHETAFLGPKDLF 9.0 2.0 - - 4000_1:156715098-156715098 G>A_STANKYQVFFFGIHETAFLGPKDLF 0.0 7:141464787-141464787 C>T 0.0 3903 MELANOMA - - ID=COSM1699455;OCCURENCE=1(skin) - TAS2R3 uc003vwp.1,p.P277S|NM_016943,p.P277S|ENST00000247879,p.P277S protein_coding uc003vwp.1 nonsynonymous SNV exon1 c.C829T p.P277S AKMIGEVMTMFYPAGHSFILILGNS AKMIGEVMTMFYSAGHSFILILGNS 1.0 3.0 - - 3903_7:141464787-141464787 C>T_AKMIGEVMTMFYSAGHSFILILGNS 0.0 7:140223218-140223218 C>T 0.0 2591 MELANOMA - - - - DENND2A ENST00000275884,p.D852N|ENST00000496613,p.D852N|uc010lnj.3,p.D852N|NM_015689,p.D852N|uc003vvw.3,p.D852N|ENST00000537639,p.D852N|uc010lnk.3,p.D852N protein_coding, nonsense_mediated_decay uc010lnk.3 nonsynonymous SNV exon17 c.G2554A p.D852N DLVNSRFLRQMDDEDSILPRKLQVA DLVNSRFLRQMDNEDSILPRKLQVA 1.0 9.0 - - 2591_7:140223218-140223218 C>T_DLVNSRFLRQMDNEDSILPRKLQVA 0.0 11:10777291-10777291 C>A 0.0 4186 BREAST - - - - CTR9 uc001mja.3,p.Q151K|ENST00000524523,p.Q138K|ENST00000361367,p.Q151K|NM_014633,p.Q151K retained_intron, protein_coding uc001mja.3 nonsynonymous SNV exon4 c.C451A p.Q151K LLEGDKMDQADAQFHFVLNQSPNNI LLEGDKMDQADAKFHFVLNQSPNNI 7.0 7.0 - - 4186_11:10777291-10777291 C>A_LLEGDKMDQADAKFHFVLNQSPNNI 0.0 17:66985229-66985229 C>T 0.0 3795 MELANOMA - - - - ABCA9 NM_080283,p.G1329E|ENST00000370732,p.G1329E|ENST00000340001,p.G1329E|ENST00000453985,p.G1291E|uc002jhu.3,p.G1329E|uc010dez.3,p.G1291E retained_intron, protein_coding, processed_transcript uc010dez.3 nonsynonymous SNV exon29 c.G3872A p.G1291E KKGEVIGLLGHNGAGKSTTIKMITG KKGEVIGLLGHNEAGKSTTIKMITG 5.0 9.0 - - 3795_17:66985229-66985229 C>T_KKGEVIGLLGHNEAGKSTTIKMITG 0.0 11:13375862-13375862 G>T 1.0 4126 NSCLC - - - - ARNTL NM_001178,p.D3Y|ENST00000529388,p.D3Y|uc001mkq.3,p.D3Y|ENST00000533520,p.D3Y|ENST00000534544,p.D3Y|ENST00000527998,p.D3Y|NM_001297719,p.D3Y|ENST00000403290,p.D3Y|ENST00000361003,p.D3Y|ENST00000529050,p.D3Y|NM_001030272,p.D3Y|ENST00000531665,p.D3Y|NM_001297722,p.D3Y|uc001mkt.3,p.D3Y|uc001mkp.3,p.D3Y|uc001mkr.3,p.D3Y|ENST00000389708,p.D3Y|ENST00000389707,p.D3Y|ENST00000396441,p.D3Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001mkt.3 nonsynonymous SNV exon4 c.G7T p.D3Y MADQRMDISSTISDF MAYQRMDISSTISDF 7.0 5.0 - - 4126_11:13375862-13375862 G>T_MAYQRMDISSTISDF 0.0 14:53513647-53513647 C>G 1.0 4244 COLORECTAL - - - - DDHD1 uc001xag.3,p.D402H|ENST00000357758,p.D820H|NM_030637,p.D820H|NM_001160147,p.D827H|uc001xaj.3,p.D827H|ENST00000395606,p.D827H|uc001xah.3,p.D820H retained_intron, protein_coding, processed_transcript uc001xaj.3 nonsynonymous SNV exon13 c.G2479C p.D827H FLDSALELDHRIDFELREGLVESRY FLDSALELDHRIHFELREGLVESRY 6.0 1.0 - - 4244_14:53513647-53513647 C>G_FLDSALELDHRIHFELREGLVESRY 0.0 9:132397525-132397525 C>T 1.0 4245 COLORECTAL - - - - NTMT1 NM_001286797,p.R152C|ENST00000372486,p.R152C|ENST00000482347,p.R64C|NM_014064,p.R152C|ENST00000372483,p.R152C|NM_001286796,p.R152C|NM_001286799,p.R152C|NM_001286802,p.R64C|uc004byd.1,p.R152C|NM_001286803,p.R64C|NM_001286798,p.R152C|ENST00000372480,p.R152C protein_coding, processed_transcript uc004byd.1 nonsynonymous SNV exon4 c.C454T p.R152C HLTDQHLAEFLRRCKGSLRPNGIIV HLTDQHLAEFLRCCKGSLRPNGIIV 9.0 6.0 - - 4245_9:132397525-132397525 C>T_HLTDQHLAEFLRCCKGSLRPNGIIV 0.0 6:41658952-41658952 G>A 1.0 3879 MELANOMA - - - 1 TFEB uc003oqx.2,p.H9Y retained_intron, protein_coding uc003oqx.2 nonsynonymous SNV exon3 c.C25T p.H9Y MGASAGSHHGVTHRVAHAAHA MGASAGSHYGVTHRVAHAAHA 5.0 1.0 - - 3879_6:41658952-41658952 G>A_MGASAGSHYGVTHRVAHAAHA 0.0 1:15392253-15392253 C>T 1.0 3784 MELANOMA - - - - KAZN NM_001018000,p.T403I|uc001avo.2,p.T403I|NM_001018001,p.T315I|ENST00000422387,p.T409I|ENST00000400798,p.T315I|NM_001017999,p.T315I|uc009vog.1,p.T409I|uc001avp.2,p.T315I|NM_015209,p.T409I|uc001avq.2,p.T315I|ENST00000503743,p.T409I|ENST00000400797,p.T315I|ENST00000361144,p.T403I retained_intron, protein_coding uc009vog.1 nonsynonymous SNV exon8 c.C1226T p.T409I QRKSLDPGLFDGTAPDYYIEEDADW QRKSLDPGLFDGIAPDYYIEEDADW 8.0 2.0 - - 3784_1:15392253-15392253 C>T_QRKSLDPGLFDGIAPDYYIEEDADW 0.0 9:132658109-132658109 C>A 1.0 4259 COLORECTAL - - - 2 FNBP1 uc004byy.1,p.K524N|uc004byx.1,p.K534N|uc004byz.1,p.K589N|ENST00000355681,p.K589N protein_coding, processed_transcript uc004byz.1 nonsynonymous SNV exon16 c.G1767T p.K589N VEVCLDKNAKGAKTYI VEVCLDKNAKGANTYI 8.0 4.0 - - 4259_9:132658109-132658109 C>A_VEVCLDKNAKGANTYI 0.0 2:25463191-25463191 C>A 1.0 4077 BILE DUCT - - - 1 DNMT3A NM_022552,p.D768Y|ENST00000402667,p.D545Y|NM_153759,p.D579Y|uc002rgc.4,p.D768Y|NM_175629,p.D768Y|ENST00000321117,p.D768Y|ENST00000264709,p.D768Y|uc002rgd.4,p.D768Y|uc002rgb.4,p.D579Y|ENST00000380746,p.D579Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002rgd.4 nonsynonymous SNV exon19 c.G2302T p.D768Y ENVVAMGVSDKRDISRFLESNPVMI ENVVAMGVSDKRYISRFLESNPVMI 7.0 6.0 - - 4077_2:25463191-25463191 C>A_ENVVAMGVSDKRYISRFLESNPVMI 0.0 20:51871441-51871441 G>A 0.0 4316 COLORECTAL - - - - TSHZ2 NM_173485,p.E482K|ENST00000603338,p.E479K|NM_001193421,p.E479K|uc021wex.1,p.E479K|uc002xwo.3,p.E482K|ENST00000371497,p.E482K|ENST00000329613,p.E479K protein_coding, processed_transcript uc021wex.1 nonsynonymous SNV exon2 c.G1435A p.E479K EETSKDEKVVKSEDYEDPLQKPLDP EETSKDEKVVKSKDYEDPLQKPLDP 2.0 9.0 - - 4316_20:51871441-51871441 G>A_EETSKDEKVVKSKDYEDPLQKPLDP 0.0 X:140993453-140993453 A>T 0.0 4129 NSCLC - - - - MAGEC1 ENST00000285879,p.E88V|NM_005462,p.E88V|uc004fbt.3,p.E88V protein_coding uc004fbt.3 nonsynonymous SNV exon4 c.A263T p.E88V SQSPLQIPQSSPEGDDTQSPLQNSQ SQSPLQIPQSSPVGDDTQSPLQNSQ 1.0 10.0 - - 4129_X:140993453-140993453 A>T_SQSPLQIPQSSPVGDDTQSPLQNSQ 0.0 X:53560337-53560337 A>G 1.0 4149 OVARIAN - - - - HUWE1 uc004dsp.4,p.F4353S|NM_031407,p.F4353S|ENST00000262854,p.F4353S|ENST00000342160,p.F4353S|uc004dsn.4,p.F3161S protein_coding, processed_transcript uc004dsp.4 nonsynonymous SNV exon84 c.T13058C p.F4353S CFNQLDLPAYESFEKLRHMLLLAIQ CFNQLDLPAYESSEKLRHMLLLAIQ 10.0 9.0 CD8 - 4149_X:53560337-53560337 A>G_CFNQLDLPAYESSEKLRHMLLLAIQ 1.0 17:7099617-7099617 C>T 1.0 4244 COLORECTAL - - - - DLG4 uc010cly.3,p.R405Q|uc002get.4,p.R451Q|uc010vto.2,p.R448Q|NM_001365,p.R451Q|ENST00000399510,p.R451Q|ENST00000399506,p.R408Q|uc010vtn.2,p.R348Q|NM_001128827,p.R405Q|ENST00000302955,p.R405Q retained_intron, protein_coding, nonsense_mediated_decay uc010vto.2 nonsynonymous SNV exon13 c.G1343A p.R448Q EYSRFEAKIHDLREQLMNSSLGSGT EYSRFEAKIHDLQEQLMNSSLGSGT 7.0 3.0 - - 4244_17:7099617-7099617 C>T_EYSRFEAKIHDLQEQLMNSSLGSGT 0.0 16:30976444-30976444 C>T 1.0 3879 MELANOMA - - - - SETD1A uc002ead.1,p.R461C|ENST00000262519,p.R461C|NM_014712,p.R461C protein_coding uc002ead.1 nonsynonymous SNV exon7 c.C1381T p.R461C PSPEREEVRTSPRPASPARSGSPAP PSPEREEVRTSPCPASPARSGSPAP 5.0 9.0 - - 3879_16:30976444-30976444 C>T_PSPEREEVRTSPCPASPARSGSPAP 0.0 X:2852912-2852912 G>C 0.0 3919 MELANOMA - - - - ARSE ENST00000540563,p.F532L|ENST00000381134,p.F577L|NM_001282631,p.F532L|ENST00000545496,p.F602L|uc011mhh.2,p.F602L|NM_001282628,p.F602L|uc004crc.4,p.F577L|NM_000047,p.F577L|uc011mhi.2,p.F523L protein_coding, processed_transcript uc011mhi.2 nonsynonymous SNV exon10 c.C1569G p.F523L IWRPWLQPCCGPFPLCWCLREDDPQ IWRPWLQPCCGPLPLCWCLREDDPQ 2.0 4.0 - - 3919_X:2852912-2852912 G>C_IWRPWLQPCCGPLPLCWCLREDDPQ 0.0 1:33959982-33959982 C>T 1.0 2556 MELANOMA - - - - ZSCAN20 uc001bxj.4,p.P680S|ENST00000361328,p.P680S|NM_145238,p.P680S|uc009vui.3,p.P679S protein_coding, processed_transcript uc009vui.3 nonsynonymous SNV exon8 c.C2035T p.P679S ENENEDEGQWGNPSQEQWQESSSEE ENENEDEGQWGNSSQEQWQESSSEE 5.0 4.0 - - 2556_1:33959982-33959982 C>T_ENENEDEGQWGNSSQEQWQESSSEE 0.0 17:17797122-17797122 ->A 0.0 4245 COLORECTAL - - - - TOM1L2 uc010vwy.2,p.V73fs|ENST00000535933,p.V73fs|ENST00000379504,p.V73fs|NM_001288786,p.V73fs|NM_001082968,p.V73fs|uc002grz.4,p.V73fs retained_intron, protein_coding, processed_transcript uc010vwy.2 frameshift insertion exon4 c.218dupT p.V73fs NRNYREVMLALTVLETCVKNCGHRF NRNYREVMLALTVAGDMCEELWPPLPHPCGQPRFHRQCSGQNYISQEQPSHHCTGQSACSDPGMG 7.0 6.0 - - 4245_17:17797122-17797122 ->A_NRNYREVMLALTVAGDMCEELWPPLPHPCGQPRFHRQCSGQNYISQEQPSHHCTGQSACSDPGMG 0.0 6:99771425-99771425 C>T 1.0 4000 MELANOMA - - - - FAXC uc003ppj.4,p.G240R|NM_032511,p.G240R|ENST00000389677,p.G240R protein_coding, processed_transcript uc003ppj.4 nonsynonymous SNV exon4 c.G718A p.G240R NLLRWVVCHITKGIVKREMHGHGIG NLLRWVVCHITKRIVKREMHGHGIG 5.0 9.0 - - 4000_6:99771425-99771425 C>T_NLLRWVVCHITKRIVKREMHGHGIG 0.0 9:69391124-69391124 C>T 0.0 4240 BREAST - - - - ANKRD20A4 uc004afn.3,p.S211L|NM_001098805,p.S211L|ENST00000357336,p.S211L retained_intron, protein_coding uc004afn.3 nonsynonymous SNV exon5 c.C632T p.S211L RRSALMLAVYYDSPGIVNILLKQNI RRSALMLAVYYDLPGIVNILLKQNI 3.0 5.0 - - 4240_9:69391124-69391124 C>T_RRSALMLAVYYDLPGIVNILLKQNI 0.0 6:37441358-37441358 A>C 1.0 4287 COLORECTAL - - ID=COSM1444156;OCCURENCE=1(large_intestine) - CMTR1 uc003ons.3,p.K601T|NM_015050,p.K601T|ENST00000373451,p.K601T protein_coding, processed_transcript, nonsense_mediated_decay uc003ons.3 nonsynonymous SNV exon17 c.A1802C p.K601T FDYRCMVSGSEQKFLIGLGKSQIYT FDYRCMVSGSEQTFLIGLGKSQIYT 9.0 5.0 CD8 - 4287_6:37441358-37441358 A>C_FDYRCMVSGSEQTFLIGLGKSQIYT 1.0 2:88425751-88425751 C>T 0.0 3795 MELANOMA 0.0009 - ID=COSM1205967;OCCURENCE=1(large_intestine) - FABP1 NM_001443,p.E62K|ENST00000295834,p.E62K|uc002sst.2,p.E62K|ENST00000393750,p.E62K retained_intron, protein_coding, processed_transcript uc002sst.2 nonsynonymous SNV exon2 c.G184A p.E62K FTITAGSKVIQNEFTVGEECELETM FTITAGSKVIQNKFTVGEECELETM 3.0 5.0 - - 3795_2:88425751-88425751 C>T_FTITAGSKVIQNKFTVGEECELETM 0.0 4:85600165-85600165 A>T 1.0 3784 MELANOMA - - - - WDFY3 ENST00000295888,p.S3352T|uc003hpc.3,p.S107T|ENST00000322366,p.S3335T|uc003hpd.3,p.S3352T|NM_014991,p.S3352T retained_intron, protein_coding, processed_transcript uc003hpd.3 nonsynonymous SNV exon65 c.T10054A p.S3352T LDEKDGFIFVNYSEGQTRAHLQGPL LDEKDGFIFVNYTEGQTRAHLQGPL 8.0 6.0 - - 3784_4:85600165-85600165 A>T_LDEKDGFIFVNYTEGQTRAHLQGPL 0.0 22:26164460-26164460 G>A 0.0 2591 MELANOMA - - - - MYO18B uc010guz.1,p.G74R|ENST00000536101,p.G193R|uc003aca.1,p.G74R|NM_032608,p.G193R|uc010guy.1,p.G74R|ENST00000407587,p.G193R|uc003abz.1,p.G193R|ENST00000539302,p.G193R|ENST00000335473,p.G193R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010guz.1 nonsynonymous SNV exon2 c.G220A p.G74R SPPATDTGKEKKGETSRTPCGSQAS SPPATDTGKEKKRETSRTPCGSQAS 1.0 1.0 - - 2591_22:26164460-26164460 G>A_SPPATDTGKEKKRETSRTPCGSQAS 0.0 5:122425854-122425854 C>T 0.0 4326 BREAST - - - - PRDM6 uc003kti.3,p.P49S|ENST00000407847,p.P49S|NM_001136239,p.P49S protein_coding, processed_transcript, nonsense_mediated_decay uc003kti.3 nonsynonymous SNV exon2 c.C145T p.P49S GSGAAGLLSAPQPLQPPPPPPPPER GSGAAGLLSAPQSLQPPPPPPPPER 4.0 4.0 - - 4326_5:122425854-122425854 C>T_GSGAAGLLSAPQSLQPPPPPPPPER 0.0 19:13409932-13409932 G>A 0.0 4189 MELANOMA - - - - CACNA1A NM_001127222,p.R839W|uc021upt.1,p.R840W|NM_001127221,p.R840W|uc010dzc.2,p.R365W|ENST00000360228,p.R839W|ENST00000573710,p.R840W|uc002mwy.3,p.R839W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021upt.1 nonsynonymous SNV exon19 c.C2518T p.R840W PQENRNNNTNKSRAAEPTVDQRLGQ PQENRNNNTNKSWAAEPTVDQRLGQ 2.0 9.0 - - 4189_19:13409932-13409932 G>A_PQENRNNNTNKSWAAEPTVDQRLGQ 0.0 1:232941569-232941569 C>T 0.0 4287 COLORECTAL - - - - MAP10 uc001hvh.2,p.P267L|NM_019090,p.P267L|ENST00000418460,p.P267L protein_coding uc001hvh.2 nonsynonymous SNV exon1 c.C800T p.P267L LATLLLQLPPGRPTPTPQLLGACDI LATLLLQLPPGRLTPTPQLLGACDI 3.0 9.0 - - 4287_1:232941569-232941569 C>T_LATLLLQLPPGRLTPTPQLLGACDI 0.0 8:8998635-8998635 G>T 1.0 2369 MELANOMA - - - - PPP1R3B NM_024607,p.P176H|NM_001201329,p.P176H|uc022arp.1,p.P176H|uc003wso.4,p.P176H|ENST00000519699,p.P176H|ENST00000310455,p.P176H|uc003wsn.4,p.P176H protein_coding uc022arp.1 nonsynonymous SNV exon1 c.C527A p.P176H MTFDTWKSYTDFPCQYVKDTYAGSD MTFDTWKSYTDFHCQYVKDTYAGSD 9.0 4.0 CD8 - 2369_8:8998635-8998635 G>T_MTFDTWKSYTDFHCQYVKDTYAGSD 1.0 5:140734966-140734966 G>A 0.0 4160 COLORECTAL - - - - PCDHGA4 uc003ljp.1,p.V67I|ENST00000571252,p.V67I|NM_032053,p.V98I|NM_018917,p.V98I|uc003ljq.2,p.V67I protein_coding uc003ljq.2 nonsynonymous SNV exon1 c.G199A p.V67I APRELAERGVRIVSRGRTQLFALNP APRELAERGVRIISRGRTQLFALNP 3.0 5.0 - - 4160_5:140734966-140734966 G>A_APRELAERGVRIISRGRTQLFALNP 0.0 13:20717281-20717281 C>A 0.0 4245 COLORECTAL - - - - GJA3 uc001umx.1,p.Q49H|uc021rgz.1,p.Q49H|ENST00000241125,p.Q49H|NM_021954,p.Q49H protein_coding uc021rgz.1 nonsynonymous SNV exon1 c.G147T p.Q49H LGAAAEDVWGDEQSDFTCNTQQPGC LGAAAEDVWGDEHSDFTCNTQQPGC 2.0 3.0 - - 4245_13:20717281-20717281 C>A_LGAAAEDVWGDEHSDFTCNTQQPGC 0.0 3:158320649-158320649 C>T 1.0 2591 MELANOMA - - - 1 MLF1 uc010hvx.3,p.P140S|ENST00000484955,p.P183S|ENST00000482628,p.P183S|ENST00000478894,p.P198S|ENST00000491767,p.P134S|uc003fcc.3,p.P239S|ENST00000355893,p.P208S|ENST00000471745,p.P198S|NM_001195434,p.P198S|uc003fby.3,p.P134S|ENST00000392822,p.P239S|NM_022443,p.P208S|uc003fca.3,p.P183S|ENST00000498592,p.P163S|ENST00000469452,p.P140S|uc003fcb.3,p.P208S|ENST00000359117,p.P183S|NM_001195432,p.P239S|NM_001195433,p.P140S|uc003fbz.3,p.P183S|NM_001130157,p.P183S|uc003fbx.3,p.P198S|NM_001130156,p.P183S protein_coding, processed_transcript, nonsense_mediated_decay uc010hvx.3 nonsynonymous SNV exon6 c.C418T p.P140S DEEWQSEVLKYKPGRHNLGNTRMRS DEEWQSEVLKYKSGRHNLGNTRMRS 7.0 10.0 - - 2591_3:158320649-158320649 C>T_DEEWQSEVLKYKSGRHNLGNTRMRS 0.0 2:165953778-165953778 A>T 0.0 4238 COLORECTAL - - - - SCN3A ENST00000360093,p.L1408H|ENST00000409101,p.L1359H|NM_001081676,p.L1359H|uc002ucz.3,p.L1359H|NM_001081677,p.L1359H|uc002ucy.3,p.L1359H|ENST00000283254,p.L1408H|NM_006922,p.L1408H|uc002ucx.3,p.L1408H retained_intron, protein_coding, processed_transcript uc002ucz.3 nonsynonymous SNV exon23 c.T4076A p.L1359H VKVNFDNVGAGYLALLQVATFKGWM VKVNFDNVGAGYHALLQVATFKGWM 1.0 7.0 - - 4238_2:165953778-165953778 A>T_VKVNFDNVGAGYHALLQVATFKGWM 0.0 X:48049693-48049693 C>A 0.0 4235 COLORECTAL - - - - SSX5 uc004diz.1,p.E155D|NM_021015,p.E155D|ENST00000376923,p.E114D|uc004dja.1,p.E114D|NM_175723,p.E114D|ENST00000311798,p.E155D|ENST00000403001,p.E54D|ENST00000347757,p.E114D protein_coding uc004dja.1 nonsynonymous SNV exon6 c.G342T p.E114D GRLQGIFPKITPEKPAEEGNDSKGV GRLQGIFPKITPDKPAEEGNDSKGV 1.0 7.0 - - 4235_X:48049693-48049693 C>A_GRLQGIFPKITPDKPAEEGNDSKGV 0.0 1:246755189-246755189 C>T 1.0 3879 MELANOMA - - - - CNST ENST00000366511,p.P109S|uc001ibp.3,p.P109S|ENST00000366513,p.P109S|uc001ibo.4,p.P109S|NM_152609,p.P109S|ENST00000366512,p.P109S|NM_001139459,p.P109S protein_coding, processed_transcript uc001ibp.3 nonsynonymous SNV exon2 c.C325T p.P109S DEQAFLGKDKKIPGKRSPRSKKGTA DEQAFLGKDKKISGKRSPRSKKGTA 10.0 9.0 - - 3879_1:246755189-246755189 C>T_DEQAFLGKDKKISGKRSPRSKKGTA 0.0 18:12836873-12836873 T>C 1.0 4180 BREAST - - - - PTPN2 ENST00000591497,p.K31E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000591497 nonsynonymous SNV exon3 c.A91G p.K31E CRMQEIDDHSRVKLQNAENDYINAS CRMQEIDDHSRVELQNAENDYINAS 9.0 9.0 - - 4180_18:12836873-12836873 T>C_CRMQEIDDHSRVELQNAENDYINAS 0.0 18:43221197-43221197 G>A 0.0 2591 MELANOMA - - - - SLC14A2 NM_001242692,p.E339K|uc010dnj.3,p.E339K|uc002lbb.3,p.E339K|NM_007163,p.E339K|ENST00000586448,p.E339K|uc002lbe.3,p.E339K|ENST00000255226,p.E339K protein_coding, nonsense_mediated_decay uc010dnj.3 nonsynonymous SNV exon9 c.G1015A p.E339K GLLAALSVATPFETIYTGLWSYNCV GLLAALSVATPFKTIYTGLWSYNCV 1.0 5.0 - - 2591_18:43221197-43221197 G>A_GLLAALSVATPFKTIYTGLWSYNCV 0.0 12:48389087-48389087 G>A 0.0 2591 MELANOMA - - - 1 COL2A1 uc001rqu.3,p.P238L|ENST00000337299,p.P169L|NM_001844,p.P238L|uc001rqv.3,p.P169L|ENST00000380518,p.P238L|NM_033150,p.P169L retained_intron, protein_coding, processed_transcript uc001rqv.3 nonsynonymous SNV exon10 c.C506T p.P169L NPGEPGEPGVSGPMGPRGPPGPPGK NPGEPGEPGVSGLMGPRGPPGPPGK 3.0 2.0 - - 2591_12:48389087-48389087 G>A_NPGEPGEPGVSGLMGPRGPPGPPGK 0.0 16:67913600-67913600 C>T 1.0 3466 MELANOMA - - - - EDC4 uc002eur.3,p.L582F|uc002eus.3,p.L312F|uc010vkg.1,p.L514F|NM_014329,p.L582F|ENST00000358933,p.L582F|uc010cer.3,p.L201F retained_intron, protein_coding, processed_transcript uc010vkg.1 nonsynonymous SNV exon15 c.C1540T p.L514F RRIVELPAPADFLSLSSETKPKLMT RRIVELPAPADFFSLSSETKPKLMT 9.0 7.0 - - 3466_16:67913600-67913600 C>T_RRIVELPAPADFFSLSSETKPKLMT 0.0 11:65048551-65048551 A>G 1.0 4266 COLORECTAL - - - - POLA2 NM_002689,p.H278R|ENST00000265465,p.H278R|ENST00000541089,p.H70R|uc010rod.1,p.H70R|uc001odj.3,p.H278R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010rod.1 nonsynonymous SNV exon7 c.A209G p.H70R NNKSVILEGDREHSSGAQIPVDLSE NNKSVILEGDRERSSGAQIPVDLSE 8.0 6.0 - - 4266_11:65048551-65048551 A>G_NNKSVILEGDRERSSGAQIPVDLSE 0.0 11:60468442-60468442 C>T 0.0 3795 MELANOMA - - - - MS4A8 ENST00000300226,p.P37S|ENST00000529752,p.P37S|NM_031457,p.P37S|ENST00000532816,p.P37S|uc009yne.1,p.P37S|uc001npv.3,p.P37S retained_intron, protein_coding, nonsense_mediated_decay uc009yne.1 nonsynonymous SNV exon2 c.C109T p.P37S VTPGIMSHVPLYPNSQPQVHLVPGN VTPGIMSHVPLYSNSQPQVHLVPGN 3.0 9.0 - - 3795_11:60468442-60468442 C>T_VTPGIMSHVPLYSNSQPQVHLVPGN 0.0 20:33028082-33028082 C>T 1.0 4160 COLORECTAL - - - - ITCH NM_001257137,p.L309F|ENST00000535650,p.L158F|NM_001257138,p.L158F|uc002xak.3,p.L268F|NM_031483,p.L268F|ENST00000374864,p.L268F|uc010geu.2,p.L309F|ENST00000262650,p.L309F|uc010zuj.2,p.L158F protein_coding, processed_transcript uc010zuj.2 nonsynonymous SNV exon8 c.C472T p.L158F TSEGATSGLIIPLTISGGSGPRPLN TSEGATSGLIIPFTISGGSGPRPLN 9.0 6.0 - - 4160_20:33028082-33028082 C>T_TSEGATSGLIIPFTISGGSGPRPLN 0.0 9:6849697-6849697 C>T 1.0 3713 MELANOMA - - - - KDM4C uc003zkg.3,p.S209F|uc011lmi.1,p.S209F|NM_001146695,p.S209F|NM_001146696,p.S231F|uc010mhw.3,p.S209F|ENST00000442236,p.S28F|ENST00000381309,p.S209F|uc011lmk.2,p.S28F|ENST00000381306,p.S209F|NM_001146694,p.S209F|ENST00000543771,p.S209F|ENST00000536108,p.S28F|ENST00000535193,p.S231F|uc010mhu.2,p.S231F|NM_015061,p.S209F|uc003zkh.3,p.S209F|ENST00000438023,p.S209F protein_coding, processed_transcript, nonsense_mediated_decay uc011lmk.2 nonsynonymous SNV exon4 c.C83T p.S28F YSINYLHFGEPKSWYAIPPEHGKRL YSINYLHFGEPKFWYAIPPEHGKRL 6.0 6.0 - - 3713_9:6849697-6849697 C>T_YSINYLHFGEPKFWYAIPPEHGKRL 0.0 7:100802357-100802357 C>G 1.0 4186 BREAST - - - - AP1S1 ENST00000337619,p.I103M|uc003uxv.4,p.I103M|ENST00000443943,p.I103M|NM_001283,p.I103M protein_coding, nonsense_mediated_decay uc003uxv.4 nonsynonymous SNV exon4 c.C309G p.I103M LDKYFGSVCELDIIFNFEKAYFILD LDKYFGSVCELDMIFNFEKAYFILD 10.0 6.0 - - 4186_7:100802357-100802357 C>G_LDKYFGSVCELDMIFNFEKAYFILD 0.0 6:110064361-110064361 T>A 1.0 4237 NSCLC - - - - FIG4 uc003ptt.2,p.S309T|ENST00000230124,p.S309T|NM_014845,p.S309T protein_coding uc003ptt.2 nonsynonymous SNV exon9 c.T925A p.S309T NEVETEQILCDASVMSFTAGSYSSY NEVETEQILCDATVMSFTAGSYSSY 7.0 8.0 - - 4237_6:110064361-110064361 T>A_NEVETEQILCDATVMSFTAGSYSSY 0.0 9:130575554-130575554 G>A 1.0 4158 COLORECTAL - - - - FPGS NM_001288803,p.E453K|uc004bsh.1,p.E296K|NM_001018078,p.E429K|ENST00000393706,p.E453K|uc011mal.1,p.E453K|ENST00000373225,p.E429K|uc004bsg.1,p.E479K|NM_004957,p.E479K|ENST00000373247,p.E479K|uc004bsi.1,p.E429K protein_coding, processed_transcript uc011mal.1 nonsynonymous SNV exon14 c.G1357A p.E453K CLEHQQHWNHLDEEQASPDLWSAPS CLEHQQHWNHLDKEQASPDLWSAPS 10.0 4.0 - - 4158_9:130575554-130575554 G>A_CLEHQQHWNHLDKEQASPDLWSAPS 0.0 20:34061700-34061700 G>A 1.0 4317 COLORECTAL - - - - CEP250 uc021wco.1,p.R465Q|NM_007186,p.R465Q|ENST00000342580,p.R465Q|ENST00000397527,p.R465Q|ENST00000425934,p.R464Q|ENST00000461386,p.R465Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021wco.1 nonsynonymous SNV exon14 c.G1394A p.R465Q DLQGEVDSLSKERELLQKAREELRQ DLQGEVDSLSKEQELLQKAREELRQ 10.0 7.0 - - 4317_20:34061700-34061700 G>A_DLQGEVDSLSKEQELLQKAREELRQ 0.0 19:54074922-54074922 C>T 1.0 3466 MELANOMA - - - 1 ZNF331 uc002qca.1,p.S25F|ENST00000512387,p.S25F|ENST00000502248,p.S25F|ENST00000513999,p.S25F|uc002qcc.1,p.S25F|NM_001253798,p.S25F|uc002qby.1,p.S25F|ENST00000505949,p.S25F|ENST00000511567,p.S25F|ENST00000511154,p.S25F|uc021uzh.1,p.S25F|NM_001079906,p.S25F|NM_001253800,p.S25F|NM_001079907,p.S25F|ENST00000411977,p.S25F|uc010eqr.1,p.S25F|NM_001253801,p.S25F|uc002qcb.1,p.S25F|ENST00000509585,p.S25F|ENST00000509047,p.S25F|uc021uzg.1,p.S25F|ENST00000513265,p.S25F|uc002qbz.1,p.S25F|ENST00000253144,p.S25F|uc002qcd.1,p.S25F|NM_001253799,p.S25F|ENST00000514022,p.S25F|uc002qbx.1,p.S25F|NM_018555,p.S25F|ENST00000511593,p.S25F|ENST00000449416,p.S25F|ENST00000502616,p.S25F|ENST00000505426,p.S25F|ENST00000514374,p.S25F|ENST00000504493,p.S25F retained_intron, protein_coding, processed_transcript uc021uzh.1 nonsynonymous SNV exon5 c.C74T p.S25F IDFSQEEWACLNSAQRDLYWDVMLE IDFSQEEWACLNFAQRDLYWDVMLE 8.0 8.0 - - 3466_19:54074922-54074922 C>T_IDFSQEEWACLNFAQRDLYWDVMLE 0.0 X:54784085-54784085 A>C 0.0 4213 COLORECTAL - - - - ITIH6 uc004dtj.2,p.S808A|NM_198510,p.S808A|ENST00000218436,p.S808A protein_coding, processed_transcript uc004dtj.2 nonsynonymous SNV exon8 c.T2422G p.S808A ALTSQAPKGLPQSRPGVSTLQVPKY ALTSQAPKGLPQARPGVSTLQVPKY 3.0 4.0 - - 4213_X:54784085-54784085 A>C_ALTSQAPKGLPQARPGVSTLQVPKY 0.0 7:100681079-100681079 G>A 0.0 4110 BILE DUCT - - - - MUC17 NM_001040105,p.D2128N|ENST00000379439,p.D2128N|ENST00000306151,p.D2128N|uc003uxp.1,p.D2128N retained_intron, protein_coding, nonsense_mediated_decay uc003uxp.1 nonsynonymous SNV exon3 c.G6382A p.D2128N SPEASTLSTTPVDSNSPVITSTEVS SPEASTLSTTPVNSNSPVITSTEVS 1.0 10.0 - - 4110_7:100681079-100681079 G>A_SPEASTLSTTPVNSNSPVITSTEVS 0.0 11:30352505-30352505 C>T 1.0 4000 MELANOMA - - - - ARL14EP ENST00000530909,p.P4S|NM_152316,p.P4S|ENST00000282032,p.P4S|uc001mso.1,p.P4S retained_intron, protein_coding, processed_transcript uc001mso.1 nonsynonymous SNV exon2 c.C10T p.P4S MMDPCSVGVQLRTTNE MMDSCSVGVQLRTTNE 10.0 1.0 - - 4000_11:30352505-30352505 C>T_MMDSCSVGVQLRTTNE 0.0 12:27110579-27110579 T>C 1.0 4237 NSCLC - - - - FGFR1OP2 ENST00000229395,p.I100T|uc001rhm.3,p.I100T|ENST00000327214,p.I100T|uc001rhl.3,p.I100T|ENST00000546072,p.I100T|uc001rhn.3,p.I100T|NM_015633,p.I100T|NM_001171888,p.I100T|NM_001171887,p.I100T retained_intron, protein_coding uc001rhn.3 nonsynonymous SNV exon4 c.T299C p.I100T TSLEEHQSALELIMSKYREQMFRLL TSLEEHQSALELTMSKYREQMFRLL 8.0 9.0 - - 4237_12:27110579-27110579 T>C_TSLEEHQSALELTMSKYREQMFRLL 0.0 7:147844715-147844715 T>A 0.0 4110 BILE DUCT - - - 2 CNTNAP2 ENST00000361727,p.L896Q|uc003weu.2,p.L896Q|NM_014141,p.L896Q protein_coding, processed_transcript uc003weu.2 nonsynonymous SNV exon17 c.T2687A p.L896Q RVTAERNVKQASLQVDRLPQQIRKA RVTAERNVKQASQQVDRLPQQIRKA 4.0 8.0 - - 4110_7:147844715-147844715 T>A_RVTAERNVKQASQQVDRLPQQIRKA 0.0 2:198950193-198950193 C>T 1.0 4000 MELANOMA - - - - PLCL1 NM_006226,p.S651F|uc002uuv.4,p.S572F|uc010fsp.3,p.S651F|ENST00000428675,p.S651F|ENST00000487695,p.S577F|ENST00000437704,p.S553F protein_coding, processed_transcript, nonsense_mediated_decay uc010fsp.3 nonsynonymous SNV exon2 c.C1952T p.S651F LSRIYPSAMRIDSSNLNPQDFWNCG LSRIYPSAMRIDFSNLNPQDFWNCG 7.0 5.0 - - 4000_2:198950193-198950193 C>T_LSRIYPSAMRIDFSNLNPQDFWNCG 0.0 17:39680490-39680490 G>A 1.0 3713 MELANOMA - - - - KRT19 uc010wfs.2,p.H448Y|ENST00000361566,p.H285Y|ENST00000593096,p.H109Y|NM_002276,p.H285Y|uc002hxd.4,p.H285Y retained_intron, protein_coding uc010wfs.2 nonsynonymous SNV exon8 c.C1342T p.H448Y SRTEELNREVAGHTEQLQMSRSEVT SRTEELNREVAGYTEQLQMSRSEVT 4.0 10.0 - - 3713_17:39680490-39680490 G>A_SRTEELNREVAGYTEQLQMSRSEVT 0.0 3:47158197-47158197 C>T 1.0 3784 MELANOMA - - ID=COSM1423558,COSM1423557;OCCURENCE=2(large_intestine) 1 SETD2 ENST00000409792,p.C1501Y|NM_014159,p.C1501Y|uc003cqs.3,p.C1501Y|uc003cqv.3,p.C1490Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003cqv.3 nonsynonymous SNV exon4 c.G4469A p.C1490Y KSHRDIKRMQCECTPLSKDERAQGE KSHRDIKRMQCEYTPLSKDERAQGE 7.0 3.0 - - 3784_3:47158197-47158197 C>T_KSHRDIKRMQCEYTPLSKDERAQGE 0.0 20:47351111-47351111 T>G 0.0 4345 COLORECTAL - - - - PREX1 ENST00000396220,p.K164T|NM_020820,p.K164T|uc002xtw.1,p.K164T|ENST00000371941,p.K164T protein_coding, processed_transcript, nonsense_mediated_decay uc002xtw.1 nonsynonymous SNV exon4 c.A491C p.K164T HEKALRLLVELNKIPTVRAFLLSCM HEKALRLLVELNTIPTVRAFLLSCM 5.0 5.0 - - 4345_20:47351111-47351111 T>G_HEKALRLLVELNTIPTVRAFLLSCM 0.0 17:80043004-80043004 C>T 1.0 4037 NSCLC - - - - FASN uc002kdu.3,p.R1439Q|uc002kdw.1,p.R655Q|NM_004104,p.R1439Q|ENST00000306749,p.R1439Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002kdw.1 nonsynonymous SNV exon11 c.G1964A p.R655Q SLKGILADEDSSRPVWLKAINCATS SLKGILADEDSSQPVWLKAINCATS 10.0 10.0 - - 4037_17:80043004-80043004 C>T_SLKGILADEDSSQPVWLKAINCATS 0.0 2:198571450-198571450 C>T 0.0 4246 COLORECTAL - - - - MARS2 uc002uuq.3,p.R441C|NM_138395,p.R441C|ENST00000282276,p.R441C protein_coding uc002uuq.3 nonsynonymous SNV exon1 c.C1321T p.R441C FPSEPGLVGPSVRAQAEDYALVSAV FPSEPGLVGPSVCAQAEDYALVSAV 4.0 8.0 - - 4246_2:198571450-198571450 C>T_FPSEPGLVGPSVCAQAEDYALVSAV 0.0 22:30057255-30057255 C>T 1.0 4189 MELANOMA - - ID=COSM419603;OCCURENCE=1(urinary_tract) 1 NF2 NM_181830,p.P163L|ENST00000403435,p.P246L|uc003agf.4,p.P246L|ENST00000353887,p.P163L|ENST00000403999,p.P246L|ENST00000347330,p.P87L|uc003agi.4,p.P163L|ENST00000397789,p.P246L|ENST00000361166,p.P246L|NM_181831,p.P163L|ENST00000334961,p.P163L|NM_181829,p.P205L|uc003afy.4,p.P246L|uc003age.4,p.P246L|uc003agb.4,p.P169L|ENST00000338641,p.P246L|ENST00000361452,p.P205L|NM_181825,p.P246L|NM_181832,p.P246L|uc003agh.4,p.P205L|ENST00000432151,p.P87L|uc003agg.4,p.P246L|NM_181828,p.P204L|uc003agc.4,p.P208L|ENST00000361676,p.P204L|NM_016418,p.P246L|uc003afz.4,p.P163L|uc003aga.4,p.P204L|NM_000268,p.P246L protein_coding, nonsense_mediated_decay uc003agi.4 nonsynonymous SNV exon6 c.C488T p.P163L LGVDALGLHIYDPENRLTPKISFPW LGVDALGLHIYDLENRLTPKISFPW 9.0 1.0 - - 4189_22:30057255-30057255 C>T_LGVDALGLHIYDLENRLTPKISFPW 0.0 19:13873436-13873436 G>A 1.0 4281 COLORECTAL - - - - CCDC130 ENST00000586666,p.E200K|ENST00000586600,p.E249K|uc002mxc.1,p.E249K|ENST00000221554,p.E249K|NM_030818,p.E249K retained_intron, protein_coding, processed_transcript uc002mxc.1 nonsynonymous SNV exon10 c.G745A p.E249K DSYEDKQKLKRTEIISRSWFPSAPG DSYEDKQKLKRTKIISRSWFPSAPG 8.0 2.0 - - 4281_19:13873436-13873436 G>A_DSYEDKQKLKRTKIISRSWFPSAPG 0.0 X:144904173-144904173 T>G 0.0 4266 COLORECTAL - - - - SLITRK2 NM_001144008,p.L77R|uc004fcg.3,p.L77R|uc011mwt.2,p.L77R|NM_032539,p.L77R|ENST00000434188,p.L77R|ENST00000370490,p.L77R|NM_001144004,p.L77R|uc011mwr.2,p.L77R|uc010nsp.3,p.L77R|NM_001144005,p.L77R|ENST00000447897,p.L77R|uc011mwq.2,p.L77R|uc010nso.3,p.L77R|ENST00000335565,p.L77R|uc011mws.2,p.L77R|NM_001144010,p.L77R|ENST00000413937,p.L77R|NM_001144003,p.L77R|NM_001144009,p.L77R|NM_001144006,p.L77R|uc022cfn.1,p.L77R|uc004fcd.3,p.L77R|ENST00000428560,p.L77R protein_coding uc022cfn.1 nonsynonymous SNV exon1 c.T230G p.L77R YQLFLNGNLLTRLYPNEFVNYSNAV YQLFLNGNLLTRRYPNEFVNYSNAV 1.0 2.0 - - 4266_X:144904173-144904173 T>G_YQLFLNGNLLTRRYPNEFVNYSNAV 0.0 18:12836873-12836873 T>C 1.0 4180 BREAST - - - - PTPN2 ENST00000327283,p.K60E|NM_080423,p.K60E|NM_080422,p.K60E|NM_001207013,p.K60E|NM_002828,p.K60E|uc002krl.3,p.K60E|uc002krp.3,p.K60E|uc002krm.3,p.K60E|ENST00000592776,p.K60E|uc002krn.3,p.K60E|ENST00000591115,p.K60E|ENST00000309660,p.K60E|ENST00000353319,p.K60E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002krp.3 nonsynonymous SNV exon3 c.A178G p.K60E YRDVSPYDHSRVKLQNAENDYINAS YRDVSPYDHSRVELQNAENDYINAS 9.0 9.0 - - 4180_18:12836873-12836873 T>C_YRDVSPYDHSRVELQNAENDYINAS 0.0 9:139686175-139686175 T>C 1.0 4180 BREAST - - - - TMEM141 ENST00000290079,p.Y23H|uc011meg.1,p.Y23H|NM_032928,p.Y23H|uc004cje.4,p.Y23H retained_intron, protein_coding, processed_transcript uc011meg.1 nonsynonymous SNV exon2 c.T67C p.Y23H DAVAAKHPGLGEYAACQSHAFMKGV DAVAAKHPGLGEHAACQSHAFMKGV 10.0 9.0 - - 4180_9:139686175-139686175 T>C_DAVAAKHPGLGEHAACQSHAFMKGV 0.0 11:62293428-62293428 G>A 1.0 3466 MELANOMA - - - - AHNAK NM_001620,p.P2821S|ENST00000378024,p.P2821S|uc001ntl.3,p.P2821S protein_coding, processed_transcript uc001ntl.3 nonsynonymous SNV exon5 c.C8461T p.P2821S VNIEGPEGKWKSPKFKMPEMHFKTP VNIEGPEGKWKSSKFKMPEMHFKTP 10.0 5.0 - - 3466_11:62293428-62293428 G>A_VNIEGPEGKWKSSKFKMPEMHFKTP 0.0 2:198641827-198641827 C>T 0.0 4196 COLORECTAL - - ID=COSM1404321,COSM1404320;OCCURENCE=1(breast),2(large_intestine),1(salivary_gland) - BOLL ENST00000321801,p.V90I|uc002uut.2,p.V90I|NM_197970,p.V90I|NM_001284362,p.V84I|uc002uus.2,p.V78I|ENST00000430004,p.V78I|ENST00000392296,p.V78I|ENST00000433157,p.V78I|NM_033030,p.V78I|NM_001284361,p.V84I|uc002uuu.1,p.V84I|uc002uur.2,p.V84I protein_coding, processed_transcript, nonsense_mediated_decay uc002uuu.1 nonsynonymous SNV exon4 c.G250A p.V84I NDRAGVSKGYGFVTFETQEDAQKIL NDRAGVSKGYGFITFETQEDAQKIL 3.0 5.0 - - 4196_2:198641827-198641827 C>T_NDRAGVSKGYGFITFETQEDAQKIL 0.0 X:30695558-30695558 A>C 1.0 3919 MELANOMA - - - - GK ENST00000378941,p.Y109S protein_coding, nonsense_mediated_decay ENST00000378941 nonsynonymous SNV exon4 c.A326C p.Y109S TVVWDKITGEPLYNAVDCLTNE TVVWDKITGEPLSNAVDCLTNE 4.0 4.0 - - 3919_X:30695558-30695558 A>C_TVVWDKITGEPLSNAVDCLTNE 0.0 20:62836922-62836922 C>G 0.0 4046 OVARIAN - - - - MYT1 uc002yii.3,p.L56V|ENST00000536311,p.L56V|ENST00000360149,p.L56V|NM_004535,p.L56V|ENST00000328439,p.L56V|uc002yih.3,p.L56V protein_coding uc002yii.3 nonsynonymous SNV exon6 c.C166G p.L56V KYSRHRSLQSCPLAKKRKLEGAEAE KYSRHRSLQSCPVAKKRKLEGAEAE 3.0 1.0 - - 4046_20:62836922-62836922 C>G_KYSRHRSLQSCPVAKKRKLEGAEAE 0.0 16:20809516-20809516 G>A 1.0 3795 MELANOMA - - - - ERI2 ENST00000357967,p.P536S|uc010vbc.1,p.P308S|uc010vbb.1,p.P536S|uc010bwh.2,p.P443S|uc002dht.3,p.P443S|ENST00000564349,p.P443S|ENST00000563117,p.P443S|NM_001142725,p.P536S|ENST00000389345,p.P271S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vbc.1 nonsynonymous SNV exon8 c.C922T p.P308S KHPLLSGGTKRNPCSPQAFPPAKKQ KHPLLSGGTKRNSCSPQAFPPAKKQ 7.0 4.0 - - 3795_16:20809516-20809516 G>A_KHPLLSGGTKRNSCSPQAFPPAKKQ 0.0 10:62544576-62544576 G>A 1.0 2556 MELANOMA - - - - CDK1 ENST00000316629,p.E51K|NM_001170406,p.E51K|ENST00000395284,p.E51K|uc001jlg.3,p.E51K|uc021prh.1,p.E51K|NM_033379,p.E51K|uc010qii.2,p.E51K|NM_001786,p.E51K|NM_001170407,p.E51K|ENST00000519078,p.E51K|ENST00000373809,p.E51K|ENST00000448257,p.E51K|uc001jld.3,p.E51K|uc031pvg.1,p.E51K retained_intron, protein_coding, processed_transcript uc031pvg.1 nonsynonymous SNV exon3 c.G151A p.E51K SEEEGVPSTAIREISLLKELRHPNI SEEEGVPSTAIRKISLLKELRHPNI 9.0 7.0 - - 2556_10:62544576-62544576 G>A_SEEEGVPSTAIRKISLLKELRHPNI 0.0 15:78486316-78486316 G>A 0.0 2556 MELANOMA - - - - ACSBG1 NM_001199377,p.S163F|uc010umw.2,p.S163F|uc002bdh.3,p.S167F|uc010umy.2,p.S60F|ENST00000559241,p.S175F|NM_015162,p.S167F|ENST00000558130,p.S163F|ENST00000258873,p.S167F|ENST00000559114,p.S60F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010umy.2 nonsynonymous SNV exon3 c.C179T p.S60F KQAHSVAILGFNSPEWFFSAVGTVF KQAHSVAILGFNFPEWFFSAVGTVF 3.0 3.0 - - 2556_15:78486316-78486316 G>A_KQAHSVAILGFNFPEWFFSAVGTVF 0.0 15:101523808-101523808 G>A 1.0 3678 MELANOMA - - - - LRRK1 ENST00000388948,p.E113K|ENST00000284395,p.E86K|uc002bwq.1,p.E113K|uc002bwr.3,p.E113K|NM_024652,p.E113K|ENST00000525284,p.E113K|ENST00000531270,p.E113K|ENST00000532029,p.E113K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002bwr.3 nonsynonymous SNV exon4 c.G337A p.E113K EMVRYLLSKRLVELPTEPTDDNPAV EMVRYLLSKRLVKLPTEPTDDNPAV 6.0 2.0 - - 3678_15:101523808-101523808 G>A_EMVRYLLSKRLVKLPTEPTDDNPAV 0.0 19:40903036-40903036 G>A 0.0 4155 MELANOMA - - - - PRX ENST00000324001,p.P408L|uc002onr.3,p.P408L|NM_181882,p.P408L|uc002onq.3,p.P269L protein_coding, processed_transcript uc002onr.3 nonsynonymous SNV exon7 c.C1223T p.P408L FGLSLLEPRPAAPEVVESKLKLPTI FGLSLLEPRPAALEVVESKLKLPTI 3.0 5.0 - - 4155_19:40903036-40903036 G>A_FGLSLLEPRPAALEVVESKLKLPTI 0.0 7:84629132-84629132 C>T 1.0 3713 MELANOMA - - ID=COSM3833391;OCCURENCE=1(breast) - SEMA3D ENST00000284136,p.R653Q|uc003uib.3,p.R292Q|uc003uic.3,p.R653Q|uc010led.3,p.R653Q|NM_152754,p.R653Q retained_intron, protein_coding, processed_transcript uc010led.3 nonsynonymous SNV exon18 c.G1958A p.R653Q ERIIKTEYGLLIRSLQKKDSGMYYC ERIIKTEYGLLIQSLQKKDSGMYYC 3.0 6.0 - - 3713_7:84629132-84629132 C>T_ERIIKTEYGLLIQSLQKKDSGMYYC 0.0 12:52632464-52632464 G>A 0.0 3713 MELANOMA - - - - KRT7 ENST00000331817,p.D200N|uc001saa.1,p.D200N|NM_005556,p.D200N retained_intron, protein_coding, processed_transcript uc001saa.1 nonsynonymous SNV exon4 c.G598A p.D200N TAAENEFVVLKKDVDAAYMSKVELE TAAENEFVVLKKNVDAAYMSKVELE 1.0 5.0 - - 3713_12:52632464-52632464 G>A_TAAENEFVVLKKNVDAAYMSKVELE 0.0 7:150725677-150725677 C>G 1.0 4134 NSCLC - - - - ABCB8 ENST00000297504,p.F25L|NM_001282291,p.F25L|uc003wil.4,p.F25L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003wil.4 nonsynonymous SNV exon1 c.C75G p.F25L GPFPGRLLPPLRFQTFSAVRNTWRN GPFPGRLLPPLRLQTFSAVRNTWRN 7.0 6.0 - - 4134_7:150725677-150725677 C>G_GPFPGRLLPPLRLQTFSAVRNTWRN 0.0 10:21415013-21415013 C>A 0.0 4258 ENDOMETRIAL - - - - C10orf113 uc001iqm.3,p.R69S|ENST00000377118,p.R59S|ENST00000534331,p.R69S|NM_001010896,p.R69S protein_coding uc001iqm.3 nonsynonymous SNV exon2 c.G207T p.R69S PGKAERRAEKGLRPPRKLVGETRRL PGKAERRAEKGLSPPRKLVGETRRL 1.0 4.0 - - 4258_10:21415013-21415013 C>A_PGKAERRAEKGLSPPRKLVGETRRL 0.0 X:31227814-31227814 C>G 0.0 4240 BREAST - - - - DMD uc004dcp.1,p.D54H|ENST00000541735,p.D662H|NM_004019,p.D54H|uc004dda.1,p.D3122H|ENST00000378707,p.D662H|ENST00000361471,p.D54H|uc004dcr.1,p.D662H|NM_004010,p.D2999H|uc004ddb.1,p.D3114H|uc004dcw.2,p.D1778H|ENST00000343523,p.D662H|NM_004011,p.D1781H|uc004dcm.1,p.D54H|NM_000109,p.D3114H|NM_004022,p.D662H|ENST00000358062,p.D818H|uc004dcx.2,p.D1781H|ENST00000357033,p.D3122H|uc004dco.1,p.D54H|uc004dcy.1,p.D3118H|NM_004017,p.D54H|NM_004023,p.D662H|NM_004006,p.D3122H|NM_004015,p.D54H|NM_004009,p.D3118H|uc004dcn.1,p.D54H|uc004dcv.1,p.D662H|NM_004013,p.D662H|uc004dcs.1,p.D662H|ENST00000359836,p.D662H|ENST00000378723,p.D54H|ENST00000378680,p.D54H|NM_004016,p.D54H|ENST00000378677,p.D3118H|uc004dcu.1,p.D662H|ENST00000378702,p.D54H|NM_004014,p.D393H|uc004dct.1,p.D662H|NM_004018,p.D54H|uc004dcz.2,p.D2999H|NM_004012,p.D1778H|ENST00000474231,p.D662H|uc010ngm.3,p.D54H|uc004dcq.1,p.D393H|uc011mkb.1,p.D54H|NM_004020,p.D662H|NM_004021,p.D662H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011mkb.1 nonsynonymous SNV exon4 c.G160C p.D54H MKLRRLQKALCLDLLSLSAACDALD MKLRRLQKALCLHLLSLSAACDALD 4.0 8.0 - - 4240_X:31227814-31227814 C>G_MKLRRLQKALCLHLLSLSAACDALD 0.0 20:44512271-44512271 C>T 1.0 3919 MELANOMA - - - - ZSWIM1 uc021wem.1,p.A347V|ENST00000372523,p.A347V|NM_080603,p.A347V|ENST00000372520,p.A347V|uc010ghi.3,p.A347V protein_coding uc021wem.1 nonsynonymous SNV exon1 c.C1040T p.A347V TGPAAQLCLGELAVVQKSTHLIGSG TGPAAQLCLGELVVVQKSTHLIGSG 5.0 2.0 - - 3919_20:44512271-44512271 C>T_TGPAAQLCLGELVVVQKSTHLIGSG 0.0 5:89923114-89923114 G>T 0.0 4287 COLORECTAL - - - - GPR98 NM_032119,p.E253D|ENST00000405460,p.E253D|uc003kju.3,p.E253D retained_intron, protein_coding, processed_transcript uc003kju.3 nonsynonymous SNV exon7 c.G759T p.E253D GGAEINTSRNSIEIIIKKNDSPVRF GGAEINTSRNSIDIIIKKNDSPVRF 5.0 8.0 - - 4287_5:89923114-89923114 G>T_GGAEINTSRNSIDIIIKKNDSPVRF 0.0 6:74440247-74440247 C>T 1.0 2556 MELANOMA - - - - CD109 NM_001159587,p.L153F|uc003phq.3,p.L153F|ENST00000437994,p.L153F|uc003php.3,p.L153F|ENST00000287097,p.L153F|NM_133493,p.L153F protein_coding, processed_transcript uc003phq.3 nonsynonymous SNV exon4 c.C457T p.L153F KPKQEVKFRIVTLFSDFKPYKTSLN KPKQEVKFRIVTFFSDFKPYKTSLN 10.0 6.0 - - 2556_6:74440247-74440247 C>T_KPKQEVKFRIVTFFSDFKPYKTSLN 0.0 3:140997264-140997264 G>A 1.0 3879 MELANOMA - - - - PXYLP1 NM_001282728,p.E16K|NM_001037172,p.E54K|ENST00000505013,p.E54K|ENST00000393007,p.E38K|NM_152282,p.E54K|ENST00000508812,p.E45K|ENST00000504264,p.E37K|ENST00000393010,p.E54K|ENST00000514680,p.E54K|ENST00000512457,p.E16K|ENST00000286353,p.E54K|uc011bnb.2,p.E37K|ENST00000502783,p.E16K|uc003etu.3,p.E54K|uc003etv.3,p.E54K|uc011bna.2,p.E16K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bnb.2 nonsynonymous SNV exon2 c.G109A p.E37K KSRKRIMPDPVTEPPVTDPVYEALL KSRKRIMPDPVTKPPVTDPVYEALL 6.0 10.0 - - 3879_3:140997264-140997264 G>A_KSRKRIMPDPVTKPPVTDPVYEALL 0.0 X:92964801-92964801 G>A 1.0 3903 MELANOMA - - - - FAM133A ENST00000322139,p.G128E|NM_001171109,p.G128E|ENST00000538690,p.G128E|NM_001171111,p.G128E|uc022bzu.1,p.G128E|NM_173698,p.G128E|uc022bzv.1,p.G128E|uc022bzx.1,p.G128E|ENST00000355813,p.G128E|ENST00000332647,p.G128E|NM_001171110,p.G128E|uc004efr.2,p.G128E|uc022bzw.1,p.G128E protein_coding uc022bzx.1 nonsynonymous SNV exon1 c.G383A p.G128E SSSDSEDEEKKQGKRRKKKKNRSYK SSSDSEDEEKKQEKRRKKKKNRSYK 5.0 10.0 - - 3903_X:92964801-92964801 G>A_SSSDSEDEEKKQEKRRKKKKNRSYK 0.0 4:87687627-87687627 C>G 1.0 4000 MELANOMA - - - 1 PTPN13 NM_080685,p.A1434G|NM_080684,p.A1238G|uc003hqa.3,p.A1410G|uc003hqb.3,p.A1238G|uc003hpz.3,p.A1429G|NM_006264,p.A1410G|uc003hpy.3,p.A1434G|ENST00000436978,p.A1434G|ENST00000411767,p.A1429G|ENST00000316707,p.A1238G|ENST00000511467,p.A1434G|ENST00000427191,p.A1410G|NM_080683,p.A1429G retained_intron, protein_coding uc003hqb.3 nonsynonymous SNV exon24 c.C3713G p.A1238G RVLAVNGVSLEGATHKQAVETLRNT RVLAVNGVSLEGGTHKQAVETLRNT 6.0 3.0 - - 4000_4:87687627-87687627 C>G_RVLAVNGVSLEGGTHKQAVETLRNT 0.0 6:97053784-97053784 G>A 0.0 4246 COLORECTAL - - - - FHL5 NM_020482,p.R114H|ENST00000326771,p.R114H|ENST00000541107,p.R114H|ENST00000450218,p.R114H|uc003pos.2,p.R114H|NM_001170807,p.R114H|uc003pot.2,p.R114H protein_coding uc003pot.2 nonsynonymous SNV exon4 c.G341A p.R114H CFHCKRTIMPGSRKMEFKGNYWHET CFHCKRTIMPGSHKMEFKGNYWHET 4.0 9.0 - - 4246_6:97053784-97053784 G>A_CFHCKRTIMPGSHKMEFKGNYWHET 0.0 11:6561133-6561133 C>A 1.0 4278 COLORECTAL - - - - DNHD1 ENST00000254579,p.H1150N|NM_144666,p.H1150N|ENST00000527990,p.H1150N|uc001mdw.4,p.H1150N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001mdw.4 nonsynonymous SNV exon18 c.C3448A p.H1150N INQVWQNENERIHAQETIRRLQRYW INQVWQNENERINAQETIRRLQRYW 6.0 3.0 - - 4278_11:6561133-6561133 C>A_INQVWQNENERINAQETIRRLQRYW 0.0 1:39920725-39920725 C>T 1.0 3713 MELANOMA - - - - MACF1 ENST00000361689,p.P4952S|ENST00000317713,p.P4952S|uc031pme.1,p.P1008S|ENST00000289893,p.P5454S|ENST00000545844,p.P4952S|ENST00000372915,p.P6910S|ENST00000567887,p.P7048S|ENST00000539005,p.P4822S|NM_012090,p.P4952S|ENST00000564288,p.P7011S|uc021olt.1,p.P4952S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031pme.1 nonsynonymous SNV exon19 c.C3022T p.P1008S ETTLIQRDQEPIPQNIDRVKALIAE ETTLIQRDQEPISQNIDRVKALIAE 10.0 7.0 - - 3713_1:39920725-39920725 C>T_ETTLIQRDQEPISQNIDRVKALIAE 0.0 1:53925394-53925394 G>A 1.0 4284 COLORECTAL - - - - DMRTB1 uc001cvq.1,p.V90I|ENST00000371445,p.V90I|NM_033067,p.V90I protein_coding, processed_transcript uc001cvq.1 nonsynonymous SNV exon1 c.G268A p.V90I SGAAAAAPAPVPVPAASLRPLSPGT SGAAAAAPAPVPIPAASLRPLSPGT 4.0 7.0 - - 4284_1:53925394-53925394 G>A_SGAAAAAPAPVPIPAASLRPLSPGT 0.0 3:21467142-21467142 A>C 0.0 4238 COLORECTAL - - - - ZNF385D uc003cce.3,p.L232V|ENST00000281523,p.L232V|NM_024697,p.L232V protein_coding, processed_transcript, nonsense_mediated_decay uc003cce.3 nonsynonymous SNV exon6 c.T694G p.L232V EAHNSGTKHKTMLEARNGSGTIKAF EAHNSGTKHKTMVEARNGSGTIKAF 1.0 7.0 - - 4238_3:21467142-21467142 A>C_EAHNSGTKHKTMVEARNGSGTIKAF 0.0 6:73830278-73830278 T>G 0.0 4213 COLORECTAL - - - - KCNQ5 ENST00000402622,p.L400V|NM_001160132,p.L400V|uc011dyi.2,p.L400V protein_coding uc011dyi.2 nonsynonymous SNV exon8 c.T1198G p.L400V VSIATWKPHLKALHTCSPTNKFCSN VSIATWKPHLKAVHTCSPTNKFCSN 4.0 4.0 - - 4213_6:73830278-73830278 T>G_VSIATWKPHLKAVHTCSPTNKFCSN 0.0 6:32096846-32096846 G>A 1.0 3713 MELANOMA - - - - FKBPL NM_022110,p.R238W|ENST00000375156,p.R238W|uc003nzr.3,p.R238W|uc021yvh.1,p.R238W protein_coding uc021yvh.1 nonsynonymous SNV exon1 c.C712T p.R238W PEGAARCYGRALRLLLTLPPPGPPE PEGAARCYGRALWLLLTLPPPGPPE 6.0 8.0 - - 3713_6:32096846-32096846 G>A_PEGAARCYGRALWLLLTLPPPGPPE 0.0 7:77325860-77325860 C>A 0.0 4129 NSCLC - - - - RSBN1L ENST00000334955,p.P25Q|NM_198467,p.P25Q|uc010ldt.1,p.P25Q retained_intron, protein_coding uc010ldt.1 nonsynonymous SNV exon1 c.C74A p.P25Q AAAPTATVSEKEPFGKLQLSSRDPP AAAPTATVSEKEQFGKLQLSSRDPP 7.0 3.0 - - 4129_7:77325860-77325860 C>A_AAAPTATVSEKEQFGKLQLSSRDPP 0.0 10:96342781-96342781 G>C 1.0 3775 CERVICAL - - - - HELLS ENST00000371332,p.E431Q|NM_001289067,p.E431Q|uc009xuo.3,p.E431Q retained_intron, protein_coding, processed_transcript uc009xuo.3 nonsynonymous SNV exon12 c.G1291C p.E431Q SLSETAEDIIAKEREQNVLHMLHQE SLSETAEDIIAKQREQNVLHMLHQE 9.0 7.0 - - 3775_10:96342781-96342781 G>C_SLSETAEDIIAKQREQNVLHMLHQE 0.0 14:77944602-77944602 G>A 1.0 4317 COLORECTAL 0.0009 - - - ISM2 ENST00000342219,p.T394M|uc001xtz.3,p.T394M|ENST00000412904,p.T313M|uc001xty.3,p.T306M|ENST00000393684,p.T306M|ENST00000429906,p.T313M|NM_199296,p.T394M retained_intron, protein_coding, nonsense_mediated_decay uc001xtz.3 nonsynonymous SNV exon6 c.C1181T p.T394M PSEEWKLLARNATDMHDQDVDSCEK PSEEWKLLARNAMDMHDQDVDSCEK 5.0 10.0 - - 4317_14:77944602-77944602 G>A_PSEEWKLLARNAMDMHDQDVDSCEK 0.0 14:24884053-24884053 C>T 0.0 4155 MELANOMA - - - - NYNRIN NM_025081,p.S1033F|uc001wpf.4,p.S1033F|ENST00000382554,p.S1033F protein_coding, processed_transcript uc001wpf.4 nonsynonymous SNV exon9 c.C3098T p.S1033F SSLASVFRVECPSLSEEILRCLSLH SSLASVFRVECPFLSEEILRCLSLH 4.0 9.0 - - 4155_14:24884053-24884053 C>T_SSLASVFRVECPFLSEEILRCLSLH 0.0 11:59837686-59837686 T>C 0.0 4301 MELANOMA - - - - MS4A3 uc001nom.3,p.S209P|NM_006138,p.S209P|ENST00000534744,p.S163P|ENST00000358152,p.S163P|NM_001031666,p.S86P|uc001non.3,p.S163P|NM_001031809,p.S163P|uc001noo.3,p.S86P|ENST00000395032,p.S86P|ENST00000278865,p.S209P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001noo.3 nonsynonymous SNV exon5 c.T256C p.S86P NANCCNSREEISSPPNSV NANCCNSREEISPPPNSV 2.0 4.0 - - 4301_11:59837686-59837686 T>C_NANCCNSREEISPPPNSV 0.0 7:89793972-89793972 A>C 1.0 4320 COLORECTAL - - - - STEAP1 uc003ujx.3,p.K315T|ENST00000297205,p.K315T|NM_012449,p.K315T retained_intron, protein_coding, nonsense_mediated_decay uc003ujx.3 nonsynonymous SNV exon5 c.A944C p.K315T IFKSILFLPCLRKKILKIRHGWEDV IFKSILFLPCLRTKILKIRHGWEDV 8.0 2.0 - - 4320_7:89793972-89793972 A>C_IFKSILFLPCLRTKILKIRHGWEDV 0.0 15:54919201-54919201 G>A 0.0 4316 COLORECTAL - - - - UNC13C uc002acm.3,p.E100K|ENST00000545554,p.E2179K|ENST00000539562,p.E100K|uc021sms.1,p.E2179K|NM_001080534,p.E2179K|ENST00000260323,p.E2179K|ENST00000537900,p.E2177K retained_intron, protein_coding uc021sms.1 nonsynonymous SNV exon32 c.G6535A p.E2179K AWYPLLKNISMDETGLTILRILSQR AWYPLLKNISMDKTGLTILRILSQR 1.0 10.0 - - 4316_15:54919201-54919201 G>A_AWYPLLKNISMDKTGLTILRILSQR 0.0 8:87638300-87638300 C>T 0.0 4246 COLORECTAL - - ID=COSM3716089;OCCURENCE=1(upper_aerodigestive_tract) - CNGB3 uc003ydx.3,p.D497N|NM_019098,p.D497N|ENST00000320005,p.D497N|uc010maj.3,p.D359N protein_coding, processed_transcript uc010maj.3 nonsynonymous SNV exon10 c.G1075A p.D359N YTWDSQRMLDESDLLKTLPTTVQLA YTWDSQRMLDESNLLKTLPTTVQLA 3.0 6.0 - - 4246_8:87638300-87638300 C>T_YTWDSQRMLDESNLLKTLPTTVQLA 0.0 17:41003468-41003468 C>A 0.0 4316 COLORECTAL - - - - AOC3 uc031rao.1,p.S36R|NM_003734,p.S36R|uc002ibv.4,p.S36R|NM_001277731,p.S36R|ENST00000308423,p.S36R protein_coding, nonsense_mediated_decay uc031rao.1 nonsynonymous SNV exon1 c.C108A p.S36R LLVGRGGDGGEPSQLPHCPSVSPSA LLVGRGGDGGEPRQLPHCPSVSPSA 4.0 6.0 - - 4316_17:41003468-41003468 C>A_LLVGRGGDGGEPRQLPHCPSVSPSA 0.0 6:42797240-42797240 C>T 1.0 4298 COLORECTAL - - - - GLTSCR1L uc011duw.1,p.P390L|ENST00000314073,p.P390L|NM_015349,p.P390L|uc003osn.1,p.P390L|uc003oso.1,p.P390L|ENST00000394168,p.P390L|uc003osm.1,p.P390L|uc003osp.1,p.P390L protein_coding uc011duw.1 nonsynonymous SNV exon5 c.C1169T p.P390L VSSTGGSIVIHSPMGQPHAPQSQFL VSSTGGSIVIHSLMGQPHAPQSQFL 6.0 7.0 - - 4298_6:42797240-42797240 C>T_VSSTGGSIVIHSLMGQPHAPQSQFL 0.0 12:118575943-118575943 C>T 1.0 3466 MELANOMA - - - - PEBP1 uc001twu.1,p.P79S|NM_002567,p.P79S|ENST00000261313,p.P79S|uc010szc.1,p.P79S protein_coding, processed_transcript uc010szc.1 nonsynonymous SNV exon2 c.C235T p.P79S VLTDPDAPSRKDPKYREWHHFLVVN VLTDPDAPSRKDSKYREWHHFLVVN 10.0 9.0 - - 3466_12:118575943-118575943 C>T_VLTDPDAPSRKDSKYREWHHFLVVN 0.0 1:225284824-225284824 T>G 0.0 4345 COLORECTAL - - - - DNAH14 ENST00000430092,p.L1193R|NM_001373,p.L1193R|ENST00000439375,p.L1193R|ENST00000328556,p.L271R|uc001how.2,p.L1193R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001how.2 nonsynonymous SNV exon22 c.T3578G p.L1193R IKGSPHIGPIKDLVNEWDQNLTLFS IKGSPHIGPIKDRVNEWDQNLTLFS 7.0 2.0 - - 4345_1:225284824-225284824 T>G_IKGSPHIGPIKDRVNEWDQNLTLFS 0.0 17:13504388-13504388 C>A 0.0 4160 COLORECTAL - - - - HS3ST3A1 uc002gob.1,p.S20I|ENST00000284110,p.S20I|NM_006042,p.S20I protein_coding uc002gob.1 nonsynonymous SNV exon1 c.G59T p.S20I SALSTSAEPLSRSIFRKFLLMLCSL SALSTSAEPLSRIIFRKFLLMLCSL 3.0 10.0 - - 4160_17:13504388-13504388 C>A_SALSTSAEPLSRIIFRKFLLMLCSL 0.0 5:14508311-14508311 A>T 1.0 4345 COLORECTAL - - - - TRIO ENST00000537187,p.E2849V|ENST00000344204,p.E3025V|ENST00000344135,p.E524V|uc003jff.3,p.E3025V|NM_007118,p.E3025V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003jff.3 nonsynonymous SNV exon57 c.A9074T p.E3025V DDYFKGVSQKAKEFVCFLLQEDPAK DDYFKGVSQKAKVFVCFLLQEDPAK 10.0 2.0 - - 4345_5:14508311-14508311 A>T_DDYFKGVSQKAKVFVCFLLQEDPAK 0.0 1:49242497-49242497 C>T 0.0 4160 COLORECTAL - - - - BEND5 NM_024603,p.A3T|ENST00000371833,p.A3T|uc001crx.4,p.A3T retained_intron, protein_coding, processed_transcript uc001crx.4 nonsynonymous SNV exon1 c.G7A p.A3T MYAFVRFLEDNVCYA MYTFVRFLEDNVCYA 4.0 2.0 - - 4160_1:49242497-49242497 C>T_MYTFVRFLEDNVCYA 0.0 5:167673790-167673790 G>A 0.0 4245 COLORECTAL - - ID=COSM3338269,COSM3697121,COSM3338268,COSM3338267;OCCURENCE=1(large_intestine) - TENM2 ENST00000403607,p.R1773H|NM_001122679,p.R1940H|ENST00000518659,p.R1949H|uc010jje.3,p.R1204H|uc003lzr.5,p.R1710H|uc003lzt.4,p.R1313H|ENST00000545108,p.R1948H|ENST00000519204,p.R1828H|uc010jjd.3,p.R1940H|ENST00000520394,p.R1710H retained_intron, protein_coding, processed_transcript uc010jje.3 nonsynonymous SNV exon16 c.G3611A p.R1204H LDKSMVLLLQSQRQYIFEYDSSDRL LDKSMVLLLQSQHQYIFEYDSSDRL 2.0 6.0 - - 4245_5:167673790-167673790 G>A_LDKSMVLLLQSQHQYIFEYDSSDRL 0.0 7:17937050-17937050 C>A 1.0 4000 MELANOMA - - - - SNX13 uc003stw.1,p.G11V|ENST00000409604,p.G11V|uc003sty.3,p.G11V|ENST00000409076,p.G11V|ENST00000409389,p.G11V|uc003stv.3,p.G11V|ENST00000444712,p.G11V|NM_015132,p.G11V|ENST00000428135,p.G11V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003sty.3 nonsynonymous SNV exon2 c.G32T p.G11V MLTEASLSIWGWGSLGIVLFLIT MLTEASLSIWVWGSLGIVLFLIT 9.0 1.0 - - 4000_7:17937050-17937050 C>A_MLTEASLSIWVWGSLGIVLFLIT 0.0 X:41075846-41075846 A>G 1.0 4046 OVARIAN - - - - USP9X ENST00000378308,p.Y2009C|NM_001039590,p.Y2009C|uc004dfb.3,p.Y2009C|uc004dfc.3,p.Y2009C|NM_001039591,p.Y2009C|ENST00000324545,p.Y2009C retained_intron, protein_coding, nonsense_mediated_decay uc004dfc.3 nonsynonymous SNV exon35 c.A6026G p.Y2009C QFMHNRMQYSMEYFQFMKKLLTCNG QFMHNRMQYSMECFQFMKKLLTCNG 8.0 6.0 CD8 - 4046_X:41075846-41075846 A>G_QFMHNRMQYSMECFQFMKKLLTCNG 1.0 3:178921553-178921553 T>A 1.0 4244 COLORECTAL - - ID=COSM754,COSM132748;OCCURENCE=1(lung),5(central_nervous_system),1(stomach),44(breast),4(large_intestine),1(prostate),2(urinary_tract),5(endometrium),1(salivary_gland) 1 PIK3CA ENST00000263967,p.N345K|NM_006218,p.N345K|uc003fjk.3,p.N345K retained_intron, protein_coding uc003fjk.3 nonsynonymous SNV exon5 c.T1035A p.N345K ALRIKILCATYVNVNIRDIDKIYVR ALRIKILCATYVKVNIRDIDKIYVR 6.0 10.0 - - 4244_3:178921553-178921553 T>A_ALRIKILCATYVKVNIRDIDKIYVR 0.0 5:178552033-178552033 G>A 0.0 4259 COLORECTAL - - - - ADAMTS2 NM_014244,p.R967C|ENST00000251582,p.R967C|uc003mjw.3,p.R967C retained_intron, protein_coding uc003mjw.3 nonsynonymous SNV exon19 c.C2899T p.R967C HAKHCNDARPESRRACSRELCPGRW HAKHCNDARPESCRACSRELCPGRW 6.0 6.0 - - 4259_5:178552033-178552033 G>A_HAKHCNDARPESCRACSRELCPGRW 0.0 11:69488012-69488012 G>A 1.0 4287 COLORECTAL - - - - ORAOV1 ENST00000441922,p.T43M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000441922 nonsynonymous SNV exon2 c.C128T p.T43M SSLGVMEGRQHGTLHGAKIGSEQKD SSLGVMEGRQHGMLHGAKIGSEQKD 6.0 9.0 - - 4287_11:69488012-69488012 G>A_SSLGVMEGRQHGMLHGAKIGSEQKD 0.0 17:47118807-47118807 G>A 1.0 2369 MELANOMA - - - - IGF2BP1 ENST00000431824,p.G157R|ENST00000290341,p.G296R|uc002iom.3,p.G296R|NM_006546,p.G296R|uc010dbj.3,p.G157R|NM_001160423,p.G157R retained_intron, protein_coding, processed_transcript uc010dbj.3 nonsynonymous SNV exon6 c.G469A p.G157R HNNFVGRLIGKEGRNLKKVEQDTET HNNFVGRLIGKERRNLKKVEQDTET 5.0 3.0 - - 2369_17:47118807-47118807 G>A_HNNFVGRLIGKERRNLKKVEQDTET 0.0 8:95444769-95444769 G>A 1.0 3466 MELANOMA - - - - FSBP NM_001256141,p.P164S|uc003ygm.3,p.P164S|ENST00000481490,p.P164S protein_coding, nonsense_mediated_decay uc003ygm.3 nonsynonymous SNV exon2 c.C490T p.P164S VEVKQEEDIKPPPPLVLNSQQSDTL VEVKQEEDIKPPSPLVLNSQQSDTL 7.0 1.0 - - 3466_8:95444769-95444769 G>A_VEVKQEEDIKPPSPLVLNSQQSDTL 0.0 5:94224595-94224595 G>A 1.0 2369 MELANOMA - - - - MCTP1 NM_001002796,p.A420V|ENST00000505078,p.A157V|ENST00000312216,p.A420V|ENST00000429576,p.A374V|ENST00000515393,p.A641V|uc003kku.2,p.A157V|NM_001297777,p.A374V|ENST00000505208,p.A420V|ENST00000508509,p.A361V|uc003kkw.2,p.A374V|uc003kkv.2,p.A420V|uc003kkz.2,p.A302V|uc003kkx.2,p.A641V|NM_024717,p.A641V|ENST00000512425,p.A302V|ENST00000506568,p.A242V retained_intron, protein_coding, processed_transcript uc003kkz.2 nonsynonymous SNV exon11 c.C905T p.A302V QVKVIRAEGLMAADVTGKSDPFCVV QVKVIRAEGLMAVDVTGKSDPFCVV 9.0 10.0 - - 2369_5:94224595-94224595 G>A_QVKVIRAEGLMAVDVTGKSDPFCVV 0.0 10:15255455-15255455 G>A 1.0 3466 MELANOMA - - - - FAM171A1 ENST00000378116,p.S711F|NM_001010924,p.S711F|uc001iob.3,p.S711F protein_coding, processed_transcript uc001iob.3 nonsynonymous SNV exon8 c.C2132T p.S711F GKPLPHPRAWFVSLDGRSNAHVRHS GKPLPHPRAWFVFLDGRSNAHVRHS 8.0 2.0 - - 3466_10:15255455-15255455 G>A_GKPLPHPRAWFVFLDGRSNAHVRHS 0.0 17:65870945-65870945 A>T 1.0 4258 ENDOMETRIAL - - - - BPTF uc002jge.3,p.E558V|ENST00000544778,p.E558V|uc002jgf.3,p.E558V|ENST00000306378,p.E558V|ENST00000424123,p.E419V|NM_004459,p.E558V|ENST00000321892,p.E558V|NM_182641,p.E558V|uc010wqm.1,p.E558V|ENST00000335221,p.E558V retained_intron, protein_coding, processed_transcript uc010wqm.1 nonsynonymous SNV exon4 c.A1673T p.E558V KSFLAAANEEILESIRAKKGDIDNV KSFLAAANEEILVSIRAKKGDIDNV 10.0 4.0 - - 4258_17:65870945-65870945 A>T_KSFLAAANEEILVSIRAKKGDIDNV 0.0 X:135825927-135825927 T>A 0.0 4160 COLORECTAL - - - - ARHGEF6 ENST00000250617,p.S160C|uc004fab.3,p.S160C|NM_004840,p.S160C protein_coding uc004fab.3 nonsynonymous SNV exon5 c.A478T p.S160C RQSKTVEMTENGSHQLIVKARFNFK RQSKTVEMTENGCHQLIVKARFNFK 5.0 6.0 - - 4160_X:135825927-135825927 T>A_RQSKTVEMTENGCHQLIVKARFNFK 0.0 17:80333257-80333257 C>T 1.0 4196 COLORECTAL - - - - UTS2R NM_018949,p.R353C|uc010wvl.2,p.R353C|ENST00000313135,p.R353C protein_coding uc010wvl.2 nonsynonymous SNV exon1 c.C1057T p.R353C PVPSLQPRARFQRCSGRSLSSCSPQ PVPSLQPRARFQCCSGRSLSSCSPQ 4.0 9.0 - - 4196_17:80333257-80333257 C>T_PVPSLQPRARFQCCSGRSLSSCSPQ 0.0 10:63850708-63850708 A>G 1.0 4245 COLORECTAL - - - - ARID5B NM_032199,p.K496E|uc001jlt.2,p.K496E|ENST00000279873,p.K496E|ENST00000309334,p.K253E|uc001jlu.2,p.K253E|NM_001244638,p.K253E protein_coding uc001jlu.2 nonsynonymous SNV exon7 c.A757G p.K253E IPEPLPAADMKKKIEGYQEFSAKPL IPEPLPAADMKKEIEGYQEFSAKPL 8.0 8.0 - - 4245_10:63850708-63850708 A>G_IPEPLPAADMKKEIEGYQEFSAKPL 0.0 8:22265987-22265987 G>T 1.0 4284 COLORECTAL - - - - SLC39A14 ENST00000359741,p.E145D|uc003xbp.4,p.E145D|NM_015359,p.E145D retained_intron, protein_coding uc003xbp.4 nonsynonymous SNV exon3 c.G435T p.E145D ENQENEENEQTEEGRPSAVEVWGFG ENQENEENEQTEDGRPSAVEVWGFG 7.0 8.0 - - 4284_8:22265987-22265987 G>T_ENQENEENEQTEDGRPSAVEVWGFG 0.0 19:38976336-38976336 G>T 0.0 4240 BREAST - - - - RYR1 NM_001042723,p.A1681S|uc002oiu.3,p.A1681S|NM_000540,p.A1681S|uc002oit.3,p.A1681S|ENST00000359596,p.A1681S|ENST00000355481,p.A1681S|ENST00000360985,p.A1681S retained_intron, protein_coding, nonsense_mediated_decay uc002oiu.3 nonsynonymous SNV exon34 c.G5041T p.A1681S YRAVCALGNNRVAHALCSHVDQAQL YRAVCALGNNRVSHALCSHVDQAQL 3.0 8.0 - - 4240_19:38976336-38976336 G>T_YRAVCALGNNRVSHALCSHVDQAQL 0.0 12:26816658-26816658 C>T 1.0 4196 COLORECTAL - - - - ITPR2 NM_002223,p.R558H|ENST00000381340,p.R558H|uc001rhg.3,p.R558H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001rhg.3 nonsynonymous SNV exon15 c.G1673A p.R558H YAPYKYMLRLCYRVLRHSQQDYRKN YAPYKYMLRLCYHVLRHSQQDYRKN 9.0 6.0 - - 4196_12:26816658-26816658 C>T_YAPYKYMLRLCYHVLRHSQQDYRKN 0.0 1:155006855-155006855 T>A 0.0 4246 COLORECTAL - - - - DCST1 uc010per.2,p.N27K|ENST00000525273,p.N27K retained_intron, protein_coding, nonsense_mediated_decay uc010per.2 nonsynonymous SNV exon3 c.T81A p.N27K SPASIHLQALNPNEPHPRQKSGLLS SPASIHLQALNPKEPHPRQKSGLLS 3.0 1.0 - - 4246_1:155006855-155006855 T>A_SPASIHLQALNPKEPHPRQKSGLLS 0.0 6:110714019-110714019 C>A 1.0 4245 COLORECTAL - - - - DDO ENST00000368923,p.V298F|uc003puc.3,p.V357F|NM_003649,p.V357F|uc003pud.3,p.V298F|ENST00000368924,p.V357F|NM_004032,p.V298F|ENST00000368925,p.V329F protein_coding, nonsense_mediated_decay uc003pud.3 nonsynonymous SNV exon4 c.G892T p.V298F TALEAARLVSECVHALRTPIPKSNL TALEAARLVSECFHALRTPIPKSNL 7.0 6.0 - - 4245_6:110714019-110714019 C>A_TALEAARLVSECFHALRTPIPKSNL 0.0 3:178936092-178936092 A>G 0.0 4298 COLORECTAL - - ID=COSM125371,COSM764;OCCURENCE=9(skin),13(breast),33(large_intestine),1(eye),5(liver),8(urinary_tract),1(pituitary),8(endometrium),1(lung),2(haematopoietic_and_lymphoid_tissue),3(stomach),4(upper_aerodigestive_tract) 1 PIK3CA ENST00000263967,p.E545G|uc003fjk.3,p.E545G|NM_006218,p.E545G retained_intron, protein_coding uc003fjk.3 nonsynonymous SNV exon10 c.A1634G p.E545G AISTRDPLSEITEQEKDFLWSHRHY AISTRDPLSEITGQEKDFLWSHRHY 6.0 2.0 - - 4298_3:178936092-178936092 A>G_AISTRDPLSEITGQEKDFLWSHRHY 0.0 6:74135166-74135166 T>G 0.0 4345 COLORECTAL - - - - MB21D1 NM_138441,p.Q451H|uc003pgx.1,p.Q451H|ENST00000370315,p.Q451H retained_intron, protein_coding uc003pgx.1 nonsynonymous SNV exon5 c.A1353C p.Q451H KTAFFHVCTQNPQDSQWDRKDLGLC KTAFFHVCTQNPHDSQWDRKDLGLC 5.0 5.0 - - 4345_6:74135166-74135166 T>G_KTAFFHVCTQNPHDSQWDRKDLGLC 0.0 5:163011-163011 G>A 0.0 3795 MELANOMA - - - - PLEKHG4B NM_052909,p.D586N|ENST00000283426,p.D586N|uc003jak.2,p.D586N retained_intron, protein_coding uc003jak.2 nonsynonymous SNV exon11 c.G1756A p.D586N PHALGKPWASQQDLWLQYPQTRLRL PHALGKPWASQQNLWLQYPQTRLRL 3.0 2.0 - - 3795_5:163011-163011 G>A_PHALGKPWASQQNLWLQYPQTRLRL 0.0 4:187628644-187628644 G>A 0.0 3795 MELANOMA - - - 1 FAT1 uc003izf.3,p.L780F|NM_005245,p.L780F|ENST00000441802,p.L780F|uc010iso.1,p.L780F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010iso.1 nonsynonymous SNV exon2 c.C2338T p.L780F DMETGMLKILSPLDRETTDKYTLNI DMETGMLKILSPFDRETTDKYTLNI 8.0 10.0 - - 3795_4:187628644-187628644 G>A_DMETGMLKILSPFDRETTDKYTLNI 0.0 5:93788673-93788673 G>A 0.0 4335 COLORECTAL - - - - KIAA0825 ENST00000513200,p.S783F|uc011cuk.2,p.S783F|ENST00000312498,p.S783F|NM_001145678,p.S783F|ENST00000427991,p.S783F retained_intron, protein_coding, processed_transcript uc011cuk.2 nonsynonymous SNV exon13 c.C2348T p.S783F LYWVSCISHFYPSLLRTPSAGGLKA LYWVSCISHFYPFLLRTPSAGGLKA 5.0 2.0 - - 4335_5:93788673-93788673 G>A_LYWVSCISHFYPFLLRTPSAGGLKA 0.0 11:118453994-118453994 A>C 0.0 4345 COLORECTAL - - - - ARCN1 ENST00000359415,p.E164A|ENST00000264028,p.E123A|uc010ryg.2,p.E35A|uc001ptq.3,p.E123A|NM_001655,p.E123A|NM_001142281,p.E35A|ENST00000392859,p.E35A|uc009zag.3,p.E164A protein_coding, processed_transcript uc010ryg.2 nonsynonymous SNV exon2 c.A104C p.E35A FAFDEIVALGYRENVNLAQIRTFTE FAFDEIVALGYRANVNLAQIRTFTE 9.0 3.0 - - 4345_11:118453994-118453994 A>C_FAFDEIVALGYRANVNLAQIRTFTE 0.0 1:20827673-20827673 T>- 1.0 4326 BREAST - - - - MUL1 ENST00000264198,p.K190fs|uc001bdi.4,p.K190fs|NM_024544,p.K190fs protein_coding uc001bdi.4 frameshift deletion exon4 c.569delA p.K190fs RPKGIQETEEMLKVGATLTGVGELVL RPKGIQETEEMLRWGPPSQGLANWSWTTTLSACSRPNKACSTI 6.0 8.0 - - 4326_1:20827673-20827673 T>-_RPKGIQETEEMLRWGPPSQGLANWSWTTTLSACSRPNKACSTI 0.0 9:37801045-37801045 C>T 1.0 4240 BREAST - - - - DCAF10 uc004aao.3,p.S61L|ENST00000242323,p.S61L|NM_024345,p.S61L|ENST00000377724,p.S61L protein_coding, processed_transcript uc004aao.3 nonsynonymous SNV exon1 c.C182T p.S61L PPARSPRRPGAPSLSPAPRSGELGL PPARSPRRPGAPLLSPAPRSGELGL 9.0 9.0 - - 4240_9:37801045-37801045 C>T_PPARSPRRPGAPLLSPAPRSGELGL 0.0 1:182356337-182356337 C>T 1.0 4298 COLORECTAL 0.0005 - - - GLUL NM_002065,p.R86Q|NM_001033056,p.R86Q|ENST00000331872,p.R86Q|uc001gpc.2,p.R86Q|uc001gpd.2,p.R86Q|ENST00000311223,p.R86Q|NM_001033044,p.R86Q|ENST00000417584,p.R86Q|uc001gpb.2,p.R86Q|uc001gpa.2,p.R86Q|ENST00000339526,p.R86Q protein_coding, processed_transcript uc001gpd.2 nonsynonymous SNV exon3 c.G257A p.R86Q NSDMYLVPAAMFRDPFRKDPNKLVL NSDMYLVPAAMFQDPFRKDPNKLVL 10.0 8.0 - - 4298_1:182356337-182356337 C>T_NSDMYLVPAAMFQDPFRKDPNKLVL 0.0 20:18037360-18037360 C>G 0.0 3775 CERVICAL - - - - OVOL2 NM_021220,p.E88Q|ENST00000278780,p.E88Q|uc002wqi.1,p.E88Q protein_coding, processed_transcript uc002wqi.1 nonsynonymous SNV exon2 c.G262C p.E88Q APESETPEPGDAEGPDGHLATKQRP APESETPEPGDAQGPDGHLATKQRP 4.0 5.0 - - 3775_20:18037360-18037360 C>G_APESETPEPGDAQGPDGHLATKQRP 0.0 9:77390974-77390974 C>T 0.0 2556 MELANOMA - - - - TRPM6 uc004ajj.1,p.M32I protein_coding, processed_transcript uc004ajj.1 nonsynonymous SNV exon1 c.G96A p.M32I SLTSSYSNVYLDMESISNNLWKYNR SLTSSYSNVYLDIESISNNLWKYNR 1.0 5.0 - - 2556_9:77390974-77390974 C>T_SLTSSYSNVYLDIESISNNLWKYNR 0.0 6:84930778-84930778 C>T 0.0 4240 BREAST - - ID=COSM744013;OCCURENCE=1(lung) - CEP162 uc003pkk.2,p.D57N|NM_014895,p.D57N|ENST00000403245,p.D57N|uc010kbp.3,p.D57N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010kbp.3 nonsynonymous SNV exon3 c.G169A p.D57N VPWWITEDDFKDDGLLGTNVSYLKT VPWWITEDDFKDNGLLGTNVSYLKT 7.0 9.0 - - 4240_6:84930778-84930778 C>T_VPWWITEDDFKDNGLLGTNVSYLKT 0.0 16:88876532-88876532 C>T 1.0 4259 COLORECTAL 0.0005 - - - APRT ENST00000563655,p.A89T retained_intron, protein_coding, nonsense_mediated_decay ENST00000563655 nonsynonymous SNV exon3 c.G265A p.A89T RAPRAELEIQKDALEPGQRVVVVDD RAPRAELEIQKDTLEPGQRVVVVDD 10.0 7.0 - - 4259_16:88876532-88876532 C>T_RAPRAELEIQKDTLEPGQRVVVVDD 0.0 1:171526655-171526655 C>T 1.0 4000 MELANOMA - - - - PRRC2C ENST00000338920,p.P1800S|ENST00000392078,p.P1802S|ENST00000367742,p.P1802S|uc010pmg.2,p.P1800S|ENST00000426496,p.P1800S|uc010pmh.2,p.P777S|NM_015172,p.P1800S retained_intron, protein_coding, processed_transcript uc010pmh.2 nonsynonymous SNV exon4 c.C2329T p.P777S STLAPVLASTSAPVPASPLAPVSAS STLAPVLASTSASVPASPLAPVSAS 10.0 8.0 - - 4000_1:171526655-171526655 C>T_STLAPVLASTSASVPASPLAPVSAS 0.0 6:43305003-43305003 G>A 1.0 2591 MELANOMA - - - - ZNF318 uc003oux.3,p.P2245S|NM_014345,p.P2245S|ENST00000361428,p.P2245S protein_coding uc003oux.3 nonsynonymous SNV exon10 c.C6733T p.P2245S LNLVKAPVSRSPPREQVIEDNMVPQ LNLVKAPVSRSPSREQVIEDNMVPQ 6.0 10.0 - - 2591_6:43305003-43305003 G>A_LNLVKAPVSRSPSREQVIEDNMVPQ 0.0 19:12951264-12951264 C>G 1.0 4326 BREAST - - - - MAST1 ENST00000251472,p.R30G|uc002mvm.3,p.R30G|NM_014975,p.R30G retained_intron, protein_coding uc002mvm.3 nonsynonymous SNV exon2 c.C88G p.R30G PGGSMFRRTKSCRTSNRKSLILTST PGGSMFRRTKSCGTSNRKSLILTST 6.0 8.0 - - 4326_19:12951264-12951264 C>G_PGGSMFRRTKSCGTSNRKSLILTST 0.0 7:6426892-6426892 C>T 1.0 3919 MELANOMA - - ID=COSM1167878,COSM125734;OCCURENCE=3(NS),1(upper_aerodigestive_tract),1(breast),38(skin),1(endometrium) 1 RAC1 uc003spx.3,p.P29S|NM_006908,p.P29S|uc003spw.3,p.P29S|ENST00000356142,p.P29S|ENST00000348035,p.P29S|NM_018890,p.P29S retained_intron, protein_coding, processed_transcript uc003spx.3 nonsynonymous SNV exon2 c.C85T p.P29S TCLLISYTTNAFPGEYIPTVFDNYS TCLLISYTTNAFSGEYIPTVFDNYS 10.0 6.0 - - 3919_7:6426892-6426892 C>T_TCLLISYTTNAFSGEYIPTVFDNYS 0.0 6:133005539-133005539 C>T 1.0 4252 COLORECTAL - - - - VNN1 NM_004666,p.G432R|ENST00000367928,p.G432R|uc003qdo.3,p.G432R protein_coding uc003qdo.3 nonsynonymous SNV exon6 c.G1294A p.G432R TRFEMFSLSGTFGTQYVFPEVLLSE TRFEMFSLSGTFRTQYVFPEVLLSE 4.0 7.0 - - 4252_6:133005539-133005539 C>T_TRFEMFSLSGTFRTQYVFPEVLLSE 0.0 1:52520755-52520755 G>A 1.0 3713 MELANOMA - - - - TXNDC12 NM_015913,p.P5L|ENST00000371626,p.P5L|uc001cti.4,p.P5L protein_coding, processed_transcript uc001cti.4 nonsynonymous SNV exon1 c.C14T p.P5L METRPRLGATCLLGFSF METRLRLGATCLLGFSF 9.0 7.0 - - 3713_1:52520755-52520755 G>A_METRLRLGATCLLGFSF 0.0 22:42189882-42189882 T>A 0.0 4345 COLORECTAL - - - - MEI1 uc011apf.1,p.L146H retained_intron, protein_coding, processed_transcript uc011apf.1 nonsynonymous SNV exon4 c.T437A p.L146H LSQACVGCLEALLDYLDARSPDIGR LSQACVGCLEALHDYLDARSPDIGR 4.0 2.0 - - 4345_22:42189882-42189882 T>A_LSQACVGCLEALHDYLDARSPDIGR 0.0 11:16800564-16800564 T>A 0.0 4077 BILE DUCT - - - - C11orf58,PLEKHA7 uc010rcu.1,p.Q1267L|ENST00000531066,p.Q1266L retained_intron, protein_coding, processed_transcript uc010rcu.1 nonsynonymous SNV exon27 c.A3800T p.Q1267L SEASQRSKQVAAQAVTDP SEASQRSKQVAALAVTDP 8.0 8.0 - - 4077_11:16800564-16800564 T>A_SEASQRSKQVAALAVTDP 0.0 5:38958823-38958823 G>C 0.0 4335 COLORECTAL - - - - RICTOR uc010ivf.2,p.N478K|ENST00000357387,p.N763K|ENST00000296782,p.N763K|uc003jlp.2,p.N763K|NM_001285439,p.N763K|NM_152756,p.N763K|uc003jlo.2,p.N763K|NM_001285440,p.N478K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ivf.2 nonsynonymous SNV exon23 c.C1434G p.N478K GIELLVTQLHDKNKTISSEALDILD GIELLVTQLHDKKKTISSEALDILD 9.0 5.0 - - 4335_5:38958823-38958823 G>C_GIELLVTQLHDKKKTISSEALDILD 0.0 19:16000397-16000397 C>T 0.0 3903 MELANOMA - - - - CYP4F2 uc002nbs.1,p.D252N|uc010xot.1,p.D103N|NM_001082,p.D252N|ENST00000221700,p.D252N|ENST00000011989,p.D103N|ENST00000592328,p.D252N|uc010xou.1,p.D103N retained_intron, protein_coding, nonsense_mediated_decay uc010xou.1 nonsynonymous SNV exon6 c.G307A p.D103N LLHIDFLYYLTPDGQRFRRACRLVH LLHIDFLYYLTPNGQRFRRACRLVH 3.0 2.0 - - 3903_19:16000397-16000397 C>T_LLHIDFLYYLTPNGQRFRRACRLVH 0.0 7:100641888-100641888 G>A 0.0 4110 BILE DUCT - - - - MUC12 ENST00000536621,p.V2682I|NM_001164462,p.V2682I|uc003uxo.3,p.V2682I|ENST00000379442,p.V2825I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003uxo.3 nonsynonymous SNV exon2 c.G8044A p.V2682I TTLSPASMTSLGVGEESTTSRSQPG TTLSPASMTSLGIGEESTTSRSQPG 6.0 6.0 - - 4110_7:100641888-100641888 G>A_TTLSPASMTSLGIGEESTTSRSQPG 0.0 6:73830278-73830278 T>G 0.0 4213 COLORECTAL - - - - KCNQ5 ENST00000355635,p.L400V protein_coding ENST00000355635 nonsynonymous SNV exon8 c.T1198G p.L400V VSIATWKPHLKALHTCSPTKQNQQG VSIATWKPHLKAVHTCSPTKQNQQG 4.0 4.0 - - 4213_6:73830278-73830278 T>G_VSIATWKPHLKAVHTCSPTKQNQQG 0.0 X:105450417-105450417 C>T 0.0 3775 CERVICAL - - - - MUM1L1 uc004emf.2,p.S331L|uc004emg.2,p.S331L|NM_001171020,p.S331L|ENST00000357175,p.S331L|ENST00000337685,p.S331L|ENST00000372552,p.S331L|uc022cca.1,p.S331L|NM_152423,p.S331L protein_coding uc022cca.1 nonsynonymous SNV exon1 c.C992T p.S331L VSFSASNPVWDYSHLMSSERNFQRL VSFSASNPVWDYLHLMSSERNFQRL 1.0 7.0 - - 3775_X:105450417-105450417 C>T_VSFSASNPVWDYLHLMSSERNFQRL 0.0 12:6690213-6690213 T>G 1.0 3466 MELANOMA - - - 1 CHD4 uc001qpo.3,p.K1636Q|ENST00000544040,p.K1629Q|NM_001297553,p.K1629Q|ENST00000357008,p.K1636Q|uc001qpp.3,p.K1661Q|ENST00000309577,p.K1664Q|ENST00000544484,p.K1661Q|NM_001273,p.K1636Q|uc001qpn.3,p.K1629Q retained_intron, protein_coding, processed_transcript uc001qpp.3 nonsynonymous SNV exon32 c.A4981C p.K1661Q KERTEEPMETEPKGAADVEKVEEKS KERTEEPMETEPQGAADVEKVEEKS 10.0 4.0 - - 3466_12:6690213-6690213 T>G_KERTEEPMETEPQGAADVEKVEEKS 0.0 7:905618-905618 G>A 1.0 4266 COLORECTAL - - - - SUN1 ENST00000425407,p.E549K|NM_025154,p.E549K|ENST00000456758,p.E821K|uc021zym.1,p.E632K|uc003sjk.3,p.E271K|uc003sji.3,p.E470K|ENST00000389574,p.E549K|uc003sjg.3,p.E537K|ENST00000413514,p.E430K|uc011jvr.2,p.E430K|NM_001130965,p.E632K|ENST00000429178,p.E557K|uc011jvq.2,p.E529K|ENST00000405266,p.E669K|uc003sjf.3,p.E549K|ENST00000401592,p.E632K|NM_001171944,p.E529K|ENST00000452783,p.E529K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021zym.1 nonsynonymous SNV exon16 c.G1894A p.E632K SGGGSILSTRCSETYETKTALMSLF SGGGSILSTRCSKTYETKTALMSLF 10.0 9.0 - - 4266_7:905618-905618 G>A_SGGGSILSTRCSKTYETKTALMSLF 0.0 2:108487278-108487278 C>T 0.0 3919 MELANOMA - - - - RGPD4 NM_182588,p.P940S|uc010ywk.2,p.P940S|ENST00000408999,p.P940S|ENST00000354986,p.P940S|uc002tdu.3,p.P127S protein_coding uc010ywk.2 nonsynonymous SNV exon20 c.C2818T p.P940S SEPGNQEKESEKPLENDTGFQAQDI SEPGNQEKESEKSLENDTGFQAQDI 2.0 8.0 - - 3919_2:108487278-108487278 C>T_SEPGNQEKESEKSLENDTGFQAQDI 0.0 20:34807689-34807689 G>A 1.0 4155 MELANOMA - - - - EPB41L1 uc002xfb.3,p.G788R|ENST00000373941,p.G787R|uc002xew.3,p.G679R|uc002xeu.3,p.G686R|NM_012156,p.G788R|NM_001258330,p.G608R|NM_177996,p.G686R|uc002xey.3,p.G538R|ENST00000338074,p.G788R|ENST00000373946,p.G608R|NM_001258329,p.G787R|ENST00000454226,p.G149R|uc002xex.3,p.G608R|uc002xez.4,p.G686R|ENST00000373950,p.G679R|uc002xev.3,p.G787R|ENST00000202028,p.G686R|NM_001258331,p.G686R|ENST00000441639,p.G686R|uc010gfq.3,p.G886R protein_coding, processed_transcript uc010gfq.3 nonsynonymous SNV exon9 c.G2656A p.G886R VATEIRSLSPIIGKDVLTSTYGATA VATEIRSLSPIIRKDVLTSTYGATA 7.0 8.0 - - 4155_20:34807689-34807689 G>A_VATEIRSLSPIIRKDVLTSTYGATA 0.0 X:123515092-123515092 G>A 0.0 4301 MELANOMA - - - - TENM1 NM_001163278,p.S2498F|uc011muj.2,p.S2497F|ENST00000371130,p.S2491F|uc010nqy.3,p.S2498F|NM_014253,p.S2491F|uc004euj.3,p.S2491F|NM_001163279,p.S2497F|ENST00000422452,p.S2498F protein_coding, processed_transcript uc011muj.2 nonsynonymous SNV exon32 c.C7490T p.S2497F QCELQKQLRNFISLDQLPMTPRYND QCELQKQLRNFIFLDQLPMTPRYND 4.0 6.0 - - 4301_X:123515092-123515092 G>A_QCELQKQLRNFIFLDQLPMTPRYND 0.0 1:151491225-151491225 C>T 1.0 4000 MELANOMA - - - - CGN ENST00000427934,p.S77F|NM_020770,p.S77F|ENST00000502442,p.S77F|ENST00000505188,p.S77F|ENST00000271636,p.S77F|uc009wmw.3,p.S77F retained_intron, protein_coding uc009wmw.3 nonsynonymous SNV exon2 c.C230T p.S77F FVVLNSGEKGGDSFGVQIKGANDQG FVVLNSGEKGGDFFGVQIKGANDQG 6.0 7.0 - - 4000_1:151491225-151491225 C>T_FVVLNSGEKGGDFFGVQIKGANDQG 0.0 1:52959328-52959328 G>A 1.0 3466 MELANOMA - - - - ZCCHC11 NM_001009881,p.H425Y|NM_015269,p.H425Y|ENST00000257177,p.H425Y|uc001cty.2,p.H425Y|uc009vzf.1,p.H184Y|uc009vze.1,p.H425Y|uc001ctx.2,p.H425Y|uc001cub.3,p.H425Y|ENST00000484723,p.H184Y|ENST00000371544,p.H425Y|ENST00000528642,p.H425Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009vzf.1 nonsynonymous SNV exon7 c.C550T p.H184Y VNIDIKFPPKMNHPDLLIKVLGILK VNIDIKFPPKMNYPDLLIKVLGILK 9.0 7.0 - - 3466_1:52959328-52959328 G>A_VNIDIKFPPKMNYPDLLIKVLGILK 0.0 7:78636436-78636436 G>A 1.0 3879 MELANOMA - - ID=COSM1214267;OCCURENCE=1(large_intestine) - MAGI2 NM_012301,p.R130C|ENST00000419488,p.R130C|uc003ugx.3,p.R130C|NM_001301128,p.R130C|uc003ugy.3,p.R130C|ENST00000354212,p.R130C|ENST00000522391,p.R130C retained_intron, protein_coding, processed_transcript uc003ugy.3 nonsynonymous SNV exon2 c.C388T p.R130C KGSVDHELQQIIRDNLYLRTVPCTT KGSVDHELQQIICDNLYLRTVPCTT 5.0 3.0 - - 3879_7:78636436-78636436 G>A_KGSVDHELQQIICDNLYLRTVPCTT 0.0 17:39388922-39388922 T>A 0.0 4266 COLORECTAL - - - - KRTAP9-3 uc021txg.1,p.C57S|NM_031962,p.C57S|ENST00000411528,p.C57S protein_coding uc021txg.1 nonsynonymous SNV exon1 c.T169A p.C57S PCCHPTCCQNTCCRTTCCQPICVTS PCCHPTCCQNTCSRTTCCQPICVTS 1.0 6.0 - - 4266_17:39388922-39388922 T>A_PCCHPTCCQNTCSRTTCCQPICVTS 0.0 15:57745949-57745949 C>T 1.0 4326 BREAST - - - - CGNL1 ENST00000281282,p.S708L|NM_001252335,p.S708L|uc010bfw.3,p.S708L|uc002aeg.3,p.S708L|NM_032866,p.S708L protein_coding, processed_transcript uc010bfw.3 nonsynonymous SNV exon8 c.C2123T p.S708L HQTEIRDLQDQLSEMHDELDSAKRS HQTEIRDLQDQLLEMHDELDSAKRS 6.0 4.0 - - 4326_15:57745949-57745949 C>T_HQTEIRDLQDQLLEMHDELDSAKRS 0.0 6:112400838-112400838 C>T 1.0 3879 MELANOMA - - - - TUBE1 NM_016262,p.G149E|ENST00000368662,p.G149E|ENST00000605457,p.G149E|uc003pvq.3,p.G149E protein_coding uc003pvq.3 nonsynonymous SNV exon6 c.G446A p.G149E CLQCFFIIHSMGGGTGSGLGTFLLK CLQCFFIIHSMGEGTGSGLGTFLLK 8.0 7.0 - - 3879_6:112400838-112400838 C>T_CLQCFFIIHSMGEGTGSGLGTFLLK 0.0 10:70056023-70056023 T>G 1.0 4345 COLORECTAL - - - - PBLD uc001jns.1,p.K95Q|uc001jnu.1,p.K95Q|uc001jnt.1,p.K95Q|NM_022129,p.K95Q|ENST00000309049,p.K95Q|ENST00000336578,p.K62Q|NM_001033083,p.K95Q|ENST00000358769,p.K95Q|ENST00000432941,p.K95Q|uc001jnr.1,p.K62Q protein_coding, processed_transcript uc001jnu.1 nonsynonymous SNV exon4 c.A283C p.K95Q TLASAAVLFHKIKNMNSTLTFVTLS TLASAAVLFHKIQNMNSTLTFVTLS 6.0 3.0 - - 4345_10:70056023-70056023 T>G_TLASAAVLFHKIQNMNSTLTFVTLS 0.0 10:5978529-5978529 G>A 1.0 4345 COLORECTAL - - - - FBXO18 ENST00000379999,p.M1031I|uc001iit.4,p.M1031I|uc001iir.4,p.M923I|NM_001258452,p.M923I|NM_178150,p.M980I|NM_032807,p.M1031I|ENST00000397269,p.M484I|ENST00000362091,p.M980I|uc001iis.4,p.M980I|uc009xig.4,p.M906I|NM_001258453,p.M906I protein_coding, processed_transcript uc009xig.4 nonsynonymous SNV exon21 c.G2718A p.M906I CNNAIPVDTVLTMKKLPITYSNRKE CNNAIPVDTVLTIKKLPITYSNRKE 7.0 1.0 - - 4345_10:5978529-5978529 G>A_CNNAIPVDTVLTIKKLPITYSNRKE 0.0 5:11117597-11117597 G>C 0.0 4284 COLORECTAL - - - 2 CTNND2 uc011cmz.1,p.Q315E|ENST00000359640,p.Q748E|NM_001288717,p.Q315E|NM_001288715,p.Q657E|ENST00000304623,p.Q748E|ENST00000511377,p.Q657E|uc011cmx.1,p.Q315E|ENST00000503622,p.Q411E|ENST00000458100,p.Q315E|uc010itt.2,p.Q657E|uc003jfa.1,p.Q748E|ENST00000513588,p.Q502E|NM_001332,p.Q748E|NM_001288716,p.Q411E|uc011cmy.1,p.Q411E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cmz.1 nonsynonymous SNV exon12 c.C943G p.Q315E CDGLTDALLYVIQSALGSSEIDSKT CDGLTDALLYVIESALGSSEIDSKT 3.0 2.0 - - 4284_5:11117597-11117597 G>C_CDGLTDALLYVIESALGSSEIDSKT 0.0 10:91497836-91497836 G>A 1.0 4189 MELANOMA - - - - KIF20B ENST00000371728,p.E1080K|uc001kgt.1,p.E291K|uc001kgs.1,p.E1080K|ENST00000416354,p.E1110K|NM_016195,p.E1040K|ENST00000394289,p.E1080K|ENST00000260753,p.E1040K|uc001kgr.1,p.E1040K|NM_001284259,p.E1080K protein_coding, processed_transcript uc001kgt.1 nonsynonymous SNV exon7 c.G871A p.E291K VKASSKKSHQIEELEQQIEKLQAEV VKASSKKSHQIEKLEQQIEKLQAEV 7.0 9.0 - - 4189_10:91497836-91497836 G>A_VKASSKKSHQIEKLEQQIEKLQAEV 0.0 10:121436513-121436513 G>T 1.0 4234 NSCLC - - - - BAG3 uc001lel.3,p.G482C|uc001lem.3,p.G483C|NM_004281,p.G483C|ENST00000369085,p.G483C protein_coding uc001lem.3 nonsynonymous SNV exon4 c.G1447T p.G483C EGRADVRQARRDGVRKVQTILEKLE EGRADVRQARRDCVRKVQTILEKLE 8.0 10.0 - - 4234_10:121436513-121436513 G>T_EGRADVRQARRDCVRKVQTILEKLE 0.0 5:122361558-122361558 G>A 1.0 3713 MELANOMA - - - - PPIC ENST00000306442,p.S144F|uc003kth.3,p.S144F|NM_000943,p.S144F retained_intron, protein_coding uc003kth.3 nonsynonymous SNV exon4 c.C431T p.S144F VSMANAGPDTNGSQFFITLTKPTWL VSMANAGPDTNGFQFFITLTKPTWL 2.0 8.0 - - 3713_5:122361558-122361558 G>A_VSMANAGPDTNGFQFFITLTKPTWL 0.0 8:32621289-32621289 C>A 0.0 4284 COLORECTAL - - - 1 NRG1 ENST00000356819,p.P436Q|uc011lbh.1,p.P274Q|uc003xja.2,p.P242Q|ENST00000518104,p.P398Q|uc003xiw.2,p.P428Q|ENST00000287845,p.P402Q|ENST00000405005,p.P431Q|uc010lvr.2,p.P173Q|ENST00000523534,p.P504Q|ENST00000287842,p.P428Q|NM_013956,p.P436Q|NM_013957,p.P428Q|ENST00000338921,p.P439Q|uc010lvs.2,p.P173Q|NM_013964,p.P431Q|uc003xiv.2,p.P431Q|ENST00000287840,p.P431Q|ENST00000519301,p.P381Q|uc003xiu.2,p.P436Q|uc022ats.1,p.P381Q|ENST00000539990,p.P274Q retained_intron, protein_coding, processed_transcript uc022ats.1 nonsynonymous SNV exon11 c.C1142A p.P381Q PHSERYVSAMTTPARMSPVDFHTPS PHSERYVSAMTTQARMSPVDFHTPS 5.0 7.0 - - 4284_8:32621289-32621289 C>A_PHSERYVSAMTTQARMSPVDFHTPS 0.0 1:67306327-67306327 A>C 1.0 4244 COLORECTAL - - - - WDR78 ENST00000464352,p.V206G|ENST00000371026,p.V440G|ENST00000371023,p.V440G|NM_207014,p.V440G|uc001dcy.3,p.V440G|NM_024763,p.V440G|uc001dcx.3,p.V440G|uc009waw.3,p.V186G|ENST00000431318,p.V186G protein_coding, processed_transcript, nonsense_mediated_decay uc009waw.3 nonsynonymous SNV exon5 c.T557G p.V186G VLKEPEPEEPEDVLESAKHEEVEEE VLKEPEPEEPEDGLESAKHEEVEEE 6.0 5.0 - - 4244_1:67306327-67306327 A>C_VLKEPEPEEPEDGLESAKHEEVEEE 0.0 X:73740836-73740836 G>A 1.0 2556 MELANOMA - - - - SLC16A2 ENST00000587091,p.A148T|uc031tjy.1,p.A148T|NM_006517,p.A148T|ENST00000276033,p.A222T protein_coding uc031tjy.1 nonsynonymous SNV exon2 c.G442A p.A148T NRQVEFQAAWVGALAMGMIFFCSPI NRQVEFQAAWVGTLAMGMIFFCSPI 5.0 4.0 - - 2556_X:73740836-73740836 G>A_NRQVEFQAAWVGTLAMGMIFFCSPI 0.0 3:142521182-142521182 C>T 1.0 3919 MELANOMA - - - - TRPC1 uc003evb.3,p.H551Y|ENST00000476941,p.H585Y|NM_003304,p.H551Y|NM_001251845,p.H585Y|ENST00000273482,p.H551Y|uc003evc.3,p.H585Y|uc011bni.1,p.H104Y retained_intron, protein_coding, nonsense_mediated_decay uc011bni.1 nonsynonymous SNV exon2 c.C310T p.H104Y GIFCEQQSNDTFHSFIGTCFALFWY GIFCEQQSNDTFYSFIGTCFALFWY 4.0 4.0 - - 3919_3:142521182-142521182 C>T_GIFCEQQSNDTFYSFIGTCFALFWY 0.0 1:176563999-176563999 G>T 0.0 4129 NSCLC - - - - PAPPA2 uc001gky.1,p.R420L|NM_021936,p.R420L|NM_020318,p.R420L|ENST00000367662,p.R420L|ENST00000367661,p.R420L|uc001gkz.3,p.R420L protein_coding, processed_transcript uc001gkz.3 nonsynonymous SNV exon3 c.G1259T p.R420L LGGDSSEDGHYFRGHLGTLVFWSTA LGGDSSEDGHYFLGHLGTLVFWSTA 1.0 1.0 - - 4129_1:176563999-176563999 G>T_LGGDSSEDGHYFLGHLGTLVFWSTA 0.0 13:92345698-92345698 C>T 0.0 4316 COLORECTAL - - - - GPC5 uc010tif.2,p.R195W|ENST00000377067,p.R195W|NM_004466,p.R195W protein_coding, processed_transcript uc010tif.2 nonsynonymous SNV exon3 c.C583T p.R195W VTDSSLEYSECIRMARRDVSPFGNI VTDSSLEYSECIWMARRDVSPFGNI 3.0 9.0 - - 4316_13:92345698-92345698 C>T_VTDSSLEYSECIWMARRDVSPFGNI 0.0 10:30654175-30654175 G>A 0.0 4189 MELANOMA - - - - GOLGA2P6 ENST00000358107,p.L30F|uc001ivb.4,p.L30F protein_coding, processed_transcript uc001ivb.4 nonsynonymous SNV exon8 c.C88T p.L30F SRCDPIILDPEWLYGPPEGEGGPEG SRCDPIILDPEWFYGPPEGEGGPEG 7.0 8.0 - - 4189_10:30654175-30654175 G>A_SRCDPIILDPEWFYGPPEGEGGPEG 0.0 12:85518095-85518095 G>A 0.0 3903 MELANOMA - - - - LRRIQ1 ENST00000393217,p.D1269N|uc021rbo.1,p.D1147N|uc001tac.3,p.D1269N|NM_001079910,p.D1269N retained_intron, protein_coding, nonsense_mediated_decay uc021rbo.1 nonsynonymous SNV exon13 c.G3439A p.D1147N EPDSPDIPEKWMDSVSSHSPLSKSA EPDSPDIPEKWMNSVSSHSPLSKSA 3.0 2.0 - - 3903_12:85518095-85518095 G>A_EPDSPDIPEKWMNSVSSHSPLSKSA 0.0 4:44690143-44690143 C>T 1.0 4281 COLORECTAL - - - - GUF1 ENST00000281543,p.A353V|uc003gww.4,p.A353V|NM_021927,p.A353V protein_coding, processed_transcript, nonsense_mediated_decay uc003gww.4 nonsynonymous SNV exon9 c.C1058T p.A353V KQPVEPLPGFKSAKPMVFAGMYPLD KQPVEPLPGFKSVKPMVFAGMYPLD 7.0 5.0 - - 4281_4:44690143-44690143 C>T_KQPVEPLPGFKSVKPMVFAGMYPLD 0.0 11:45907463-45907463 C>T 0.0 4189 MELANOMA - - - - MAPK8IP1 uc001nbr.3,p.P31L|ENST00000241014,p.P31L|NM_005456,p.P31L retained_intron, protein_coding, processed_transcript uc001nbr.3 nonsynonymous SNV exon1 c.C92T p.P31L ASPFLGLHIASPPNFRLTHDISLEE ASPFLGLHIASPLNFRLTHDISLEE 5.0 7.0 - - 4189_11:45907463-45907463 C>T_ASPFLGLHIASPLNFRLTHDISLEE 0.0 2:85769048-85769048 C>G 1.0 4326 BREAST - - - - MAT2A uc002spr.3,p.R168G|ENST00000409017,p.R105G|NM_005911,p.R168G|uc010ysr.2,p.R168G|ENST00000306434,p.R168G|uc010fgl.2,p.R105G retained_intron, protein_coding, processed_transcript uc010ysr.2 nonsynonymous SNV exon5 c.C502G p.R168G LAHKLNAKLAELRRNGTLPWLRPDS LAHKLNAKLAELGRNGTLPWLRPDS 10.0 5.0 - - 4326_2:85769048-85769048 C>G_LAHKLNAKLAELGRNGTLPWLRPDS 0.0 7:94056954-94056954 C>T 0.0 4320 COLORECTAL - - - - COL1A2 uc003ung.1,p.P1095S|ENST00000297268,p.P1095S|NM_000089,p.P1095S retained_intron, protein_coding uc003ung.1 nonsynonymous SNV exon49 c.C3283T p.P1095S QGHQGPAGPPGPPGPPGPPGVSGGG QGHQGPAGPPGPSGPPGPPGVSGGG 10.0 8.0 - - 4320_7:94056954-94056954 C>T_QGHQGPAGPPGPSGPPGPPGVSGGG 0.0 4:77662468-77662468 C>T 1.0 4284 COLORECTAL - - - - SHROOM3 uc011cbx.2,p.R1048C|uc011cbz.1,p.R872C|uc003hkg.3,p.R826C|NM_020859,p.R1048C|ENST00000296043,p.R1048C|uc003hkf.1,p.R923C retained_intron, protein_coding, processed_transcript uc011cbz.1 nonsynonymous SNV exon4 c.C2614T p.R872C EPAPLGPQRNGMRFPESSVADRRRL EPAPLGPQRNGMCFPESSVADRRRL 9.0 8.0 - - 4284_4:77662468-77662468 C>T_EPAPLGPQRNGMCFPESSVADRRRL 0.0 5:90052931-90052931 G>A 0.0 2591 MELANOMA - - - - GPR98 ENST00000405460,p.E3965K|uc003kjv.3,p.E1565K|NM_032119,p.E3965K|uc003kju.3,p.E3965K retained_intron, protein_coding, processed_transcript uc003kjv.3 nonsynonymous SNV exon25 c.G4693A p.E1565K VYWKASPDSAGLEDFKPSHGILEFA VYWKASPDSAGLKDFKPSHGILEFA 1.0 4.0 - - 2591_5:90052931-90052931 G>A_VYWKASPDSAGLKDFKPSHGILEFA 0.0 2:135119909-135119909 T>C 1.0 4245 COLORECTAL 0.0009 - - - MGAT5 ENST00000281923,p.I437T|uc002ttw.4,p.I437T|ENST00000409645,p.I437T|NM_002410,p.I437T protein_coding, processed_transcript uc002ttw.4 nonsynonymous SNV exon10 c.T1310C p.I437T GFVVEQHLNSSDIHHINEIKRQNQS GFVVEQHLNSSDTHHINEIKRQNQS 9.0 4.0 - - 4245_2:135119909-135119909 T>C_GFVVEQHLNSSDTHHINEIKRQNQS 0.0 12:53088432-53088432 G>A 0.0 3903 MELANOMA - - - - KRT77 NM_175078,p.A353V|ENST00000341809,p.A353V|uc001saw.3,p.A353V|ENST00000537195,p.A120V|uc009zmi.3,p.A111V retained_intron, protein_coding, nonsense_mediated_decay uc009zmi.3 nonsynonymous SNV exon6 c.C332T p.A111V QYELIAQRSKDEAEALYQTKYQELQ QYELIAQRSKDEVEALYQTKYQELQ 1.0 8.0 - - 3903_12:53088432-53088432 G>A_QYELIAQRSKDEVEALYQTKYQELQ 0.0 1:156281999-156281999 G>A 1.0 3678 MELANOMA - - - - CCT3 uc010phl.2,p.R284W|ENST00000368259,p.R292W|ENST00000368261,p.R285W|uc001fon.2,p.R292W|ENST00000295688,p.R330W|NM_001008800,p.R292W|ENST00000472765,p.R285W|NM_005998,p.R330W|uc010phj.2,p.R284W|uc010phk.2,p.R284W|uc001fol.2,p.R330W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010phl.2 nonsynonymous SNV exon10 c.C850T p.R284W TDNNRIARACGARIVSRPEELREDD TDNNRIARACGAWIVSRPEELREDD 10.0 10.0 - - 3678_1:156281999-156281999 G>A_TDNNRIARACGAWIVSRPEELREDD 0.0 1:45120566-45120566 C>A 1.0 4129 NSCLC - - - - TMEM53 uc001cmc.3,p.A167S|NM_024587,p.A167S|NM_001300748,p.A136S|NM_001300746,p.A94S|uc001cmd.3,p.A94S|uc009vxh.1,p.A50S|NM_001300747,p.A137S|ENST00000372235,p.A137S|ENST00000372237,p.A167S|uc010ola.1,p.A50S protein_coding, processed_transcript uc010ola.1 nonsynonymous SNV exon2 c.G148T p.A50S LRALAAILERRAAMLRLLLLVAFAL LRALAAILERRASMLRLLLLVAFAL 8.0 9.0 - - 4129_1:45120566-45120566 C>A_LRALAAILERRASMLRLLLLVAFAL 0.0 18:7033087-7033087 A>T 0.0 4298 COLORECTAL - - - - LAMA1 uc002knm.3,p.S687T|ENST00000389658,p.S687T|NM_005559,p.S687T|uc010wzj.2,p.S163T retained_intron, protein_coding uc010wzj.2 nonsynonymous SNV exon14 c.T487A p.S163T YNSAKMALYRLESVSLDIASSNAID YNSAKMALYRLETVSLDIASSNAID 4.0 1.0 - - 4298_18:7033087-7033087 A>T_YNSAKMALYRLETVSLDIASSNAID 0.0 6:152651729-152651729 C>T 1.0 4326 BREAST - - ID=COSM1672895,COSM1672893,COSM1672894;OCCURENCE=1(large_intestine) - SYNE1 uc003qou.4,p.M4697I|NM_033071,p.M4626I|ENST00000265368,p.M4697I|ENST00000448038,p.M4626I|ENST00000341594,p.M4444I|uc003qot.4,p.M4626I|ENST00000423061,p.M4626I|NM_182961,p.M4697I|uc010kiz.4,p.M452I|ENST00000367255,p.M4697I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010kiz.4 nonsynonymous SNV exon2 c.G1356A p.M452I QSLSELEAQFLRMSKVPTDLAVEEA QSLSELEAQFLRISKVPTDLAVEEA 8.0 9.0 - - 4326_6:152651729-152651729 C>T_QSLSELEAQFLRISKVPTDLAVEEA 0.0 2:179444754-179444754 C>G 0.0 4149 OVARIAN - - - - TTN ENST00000342992,p.E19852D|uc021vsz.2,p.E13547D|uc021vtb.2,p.E13355D|ENST00000591111,p.E20779D|ENST00000359218,p.E13480D|NM_003319,p.E13355D|uc031rqd.1,p.E20779D|uc021vta.2,p.E13480D|NM_133437,p.E13547D|ENST00000460472,p.E13355D|uc031rqc.1,p.E22420D|NM_133432,p.E13480D|NM_001256850,p.E20779D|uc021vsy.2,p.E19852D|NM_001267550,p.E22420D|NM_133378,p.E19852D|ENST00000589042,p.E22420D|ENST00000342175,p.E13547D retained_intron, protein_coding uc031rqd.1 nonsynonymous SNV exon268 c.G62337C p.E20779D CSKTSFRVANLEEGKSYFFRVFAEN CSKTSFRVANLEDGKSYFFRVFAEN 1.0 1.0 - - 4149_2:179444754-179444754 C>G_CSKTSFRVANLEDGKSYFFRVFAEN 0.0 12:14019007-14019007 C>T 0.0 4301 MELANOMA - - ID=COSM261193;OCCURENCE=1(large_intestine) - GRIN2B NM_000834,p.D46N|ENST00000279593,p.D46N|uc001rbt.2,p.D46N protein_coding uc001rbt.2 nonsynonymous SNV exon2 c.G136A p.D46N SIGIAVILVGTSDEVAIKDAHEKDD SIGIAVILVGTSNEVAIKDAHEKDD 3.0 8.0 - - 4301_12:14019007-14019007 C>T_SIGIAVILVGTSNEVAIKDAHEKDD 0.0 17:27044353-27044353 C>A 0.0 4078 GASTRIC - - - - NARR NM_001256281,p.R125L|uc031qzq.1,p.R125L retained_intron, protein_coding, nonsense_mediated_decay uc031qzq.1 nonsynonymous SNV exon1 c.G374T p.R125L GTPRPRVIVGSPRARVADADPASAP GTPRPRVIVGSPLARVADADPASAP 7.0 8.0 - - 4078_17:27044353-27044353 C>A_GTPRPRVIVGSPLARVADADPASAP 0.0 11:113630943-113630943 G>A 1.0 3713 MELANOMA - - - - ZW10 ENST00000535142,p.P190S|NM_004724,p.P190S|ENST00000200135,p.P190S|uc001poe.3,p.P190S protein_coding, nonsense_mediated_decay uc001poe.3 nonsynonymous SNV exon5 c.C568T p.P190S GEEWQKLIVWKFPPSKDTSSLESYL GEEWQKLIVWKFSPSKDTSSLESYL 3.0 2.0 - - 3713_11:113630943-113630943 G>A_GEEWQKLIVWKFSPSKDTSSLESYL 0.0 19:19256828-19256828 C>T 0.0 4046 OVARIAN - - - - MEF2B,MEF2BNB-MEF2B uc002nlo.2,p.G258E|uc002nlp.2,p.G258E|ENST00000602424,p.G258E|ENST00000514819,p.G275E|NM_005919,p.G258E|uc010xqo.2,p.G275E|ENST00000444486,p.G258E protein_coding,nonsense_mediated_decay,retained_intron uc010xqo.2 nonsynonymous SNV exon8 c.G824A p.G275E GSFPFLPGGPPVGAEAWARRVPQPA GSFPFLPGGPPVEAEAWARRVPQPA 6.0 1.0 - - 4046_19:19256828-19256828 C>T_GSFPFLPGGPPVEAEAWARRVPQPA 0.0 15:75942041-75942041 G>T 0.0 4316 COLORECTAL - - - - SNX33 NM_153271,p.G200C|ENST00000308527,p.G200C|uc002bau.3,p.G200C protein_coding uc002bau.3 nonsynonymous SNV exon1 c.G598T p.G200C CFVRSGVEAFILGDVPMMAKIAETY CFVRSGVEAFILCDVPMMAKIAETY 4.0 6.0 - - 4316_15:75942041-75942041 G>T_CFVRSGVEAFILCDVPMMAKIAETY 0.0 12:7252304-7252316 CTCCCCATCCTGT>- 1.0 4326 BREAST - - - - C1RL uc001qsn.3,p.R219fs|ENST00000266542,p.R219fs|NM_016546,p.R219fs|NM_001297640,p.R177fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001qsn.3 frameshift deletion exon5 c.657_669del p.R219fs ALTCATPGTWKDRQDGEEVLQCMPVC ALTCATPGTWKDRRFFSVCLSADGQSPPLPRIRRPSVLPEPSWATSPGKPSPVSTAVGAGPCWGTDGSSLLPTPSTPRTVFLSGRTRV 7.0 5.0 - - 4326_12:7252304-7252316 CTCCCCATCCTGT>-_ALTCATPGTWKDRRFFSVCLSADGQSPPLPRIRRPSVLPEPSWATSPGKPSPVSTAVGAGPCWGTDGSSLLPTPSTPRTVFLSGRTRV 0.0 10:49791089-49791089 C>T 1.0 4284 COLORECTAL - - - - ARHGAP22 ENST00000460425,p.R54K|uc001jgu.4,p.R48K|uc001jgt.4,p.R48K|ENST00000417912,p.R48K|ENST00000435790,p.R54K|NM_001256025,p.R54K|NM_021226,p.R48K|NM_001256024,p.R48K|ENST00000249601,p.R48K|uc010qgm.3,p.R54K|uc010qgl.3,p.R48K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010qgm.3 nonsynonymous SNV exon2 c.G161A p.R54K GPVLKAGWLKKQRSIMKNWQQRWFV GPVLKAGWLKKQKSIMKNWQQRWFV 6.0 6.0 - - 4284_10:49791089-49791089 C>T_GPVLKAGWLKKQKSIMKNWQQRWFV 0.0 9:79320418-79320418 C>T 0.0 3713 MELANOMA - - - - PRUNE2 ENST00000428286,p.E1899K|uc022bih.1,p.E2080K|NM_015225,p.E2258K|ENST00000376718,p.E2258K|uc010mpk.3,p.E2258K protein_coding, processed_transcript uc022bih.1 nonsynonymous SNV exon7 c.G6238A p.E2080K GDGSWISDSFSPESQPGARALFDGD GDGSWISDSFSPKSQPGARALFDGD 2.0 8.0 - - 3713_9:79320418-79320418 C>T_GDGSWISDSFSPKSQPGARALFDGD 0.0 1:152192471-152192471 C>T 0.0 4346 COLORECTAL 0.0032 - ID=COSM458591;OCCURENCE=1(cervix),1(lung) - HRNR ENST00000368801,p.R545H|NM_001009931,p.R545H|uc001ezt.2,p.R545H protein_coding uc001ezt.2 nonsynonymous SNV exon3 c.G1634A p.R545H HGSGSGQSPSPSRGRHESGSRQSSS HGSGSGQSPSPSHGRHESGSRQSSS 1.0 8.0 - - 4346_1:152192471-152192471 C>T_HGSGSGQSPSPSHGRHESGSRQSSS 0.0 18:5891791-5891791 G>T 0.0 4196 COLORECTAL - - - - TMEM200C NM_001080209,p.P91H|ENST00000581347,p.P91H|ENST00000383490,p.P91H|uc002kmx.1,p.P91H protein_coding uc002kmx.1 nonsynonymous SNV exon1 c.C272A p.P91H TGTNREGGKQLPPAGSSHRVPTTAN TGTNREGGKQLPHAGSSHRVPTTAN 3.0 5.0 - - 4196_18:5891791-5891791 G>T_TGTNREGGKQLPHAGSSHRVPTTAN 0.0 8:113254011-113254011 C>T 0.0 3795 MELANOMA - - - 2 CSMD3 NM_052900,p.G3300D|NM_198124,p.G3429D|uc003ynt.3,p.G3429D|uc003ynu.3,p.G3469D|ENST00000352409,p.G3399D|NM_198123,p.G3469D|uc003yns.3,p.G2671D|ENST00000339701,p.G2739D|ENST00000455883,p.G3300D|uc011lhx.2,p.G3300D|ENST00000343508,p.G3429D|ENST00000297405,p.G3469D retained_intron, protein_coding, processed_transcript uc011lhx.2 nonsynonymous SNV exon64 c.G9899A p.G3300D NTWTGKVPICEAGSKILVKDPRPAL NTWTGKVPICEADSKILVKDPRPAL 2.0 3.0 - - 3795_8:113254011-113254011 C>T_NTWTGKVPICEADSKILVKDPRPAL 0.0 7:48311901-48311901 G>C 1.0 4298 COLORECTAL - - - - ABCA13 uc003toq.2,p.D880H|ENST00000435803,p.D880H|NM_152701,p.D880H|uc010kyr.2,p.D383H retained_intron, protein_coding, nonsense_mediated_decay uc010kyr.2 nonsynonymous SNV exon18 c.G1147C p.D383H STSFNFSQLFHSDWPKSPAMNIDFV STSFNFSQLFHSHWPKSPAMNIDFV 4.0 1.0 - - 4298_7:48311901-48311901 G>C_STSFNFSQLFHSHWPKSPAMNIDFV 0.0 2:187693087-187693087 G>T 0.0 4266 COLORECTAL - - - - ZSWIM2 NM_182521,p.P509Q|uc002upu.1,p.P509Q|ENST00000295131,p.P509Q protein_coding, nonsense_mediated_decay uc002upu.1 nonsynonymous SNV exon9 c.C1526A p.P509Q LQDLPTVSFGKIPSQTLLPPIVHKN LQDLPTVSFGKIQSQTLLPPIVHKN 1.0 4.0 - - 4266_2:187693087-187693087 G>T_LQDLPTVSFGKIQSQTLLPPIVHKN 0.0 20:8689378-8689378 C>T 1.0 3466 MELANOMA - - ID=COSM1029318,COSM1029319;OCCURENCE=1(endometrium) - PLCB1 ENST00000378641,p.S410L|NM_015192,p.S410L|uc002wnc.1,p.S309L|uc002wna.4,p.S410L|uc010zrb.1,p.S309L|ENST00000378637,p.S410L|NM_182734,p.S410L|uc002wnb.4,p.S410L|ENST00000338037,p.S410L protein_coding, processed_transcript, nonsense_mediated_decay uc010zrb.1 nonsynonymous SNV exon12 c.C926T p.S309L CAFKTSPFPILLSFENHVDSPKQQA CAFKTSPFPILLLFENHVDSPKQQA 5.0 4.0 - - 3466_20:8689378-8689378 C>T_CAFKTSPFPILLLFENHVDSPKQQA 0.0 X:139038347-139038347 G>A 0.0 4258 ENDOMETRIAL - - - - CXorf66 ENST00000370540,p.T265I|uc004fbb.3,p.T265I|NM_001013403,p.T265I protein_coding uc004fbb.3 nonsynonymous SNV exon3 c.C794T p.T265I RAALLSNSELAETCQPYKKKHLVAK RAALLSNSELAEICQPYKKKHLVAK 1.0 5.0 - - 4258_X:139038347-139038347 G>A_RAALLSNSELAEICQPYKKKHLVAK 0.0 13:42876276-42876276 T>C 0.0 4345 COLORECTAL - - - - AKAP11 uc001uys.2,p.F1132L|ENST00000025301,p.F1132L|NM_016248,p.F1132L protein_coding uc001uys.2 nonsynonymous SNV exon8 c.T3394C p.F1132L LTKKLKGELAKEFAPATPPSTPHNS LTKKLKGELAKELAPATPPSTPHNS 6.0 2.0 - - 4345_13:42876276-42876276 T>C_LTKKLKGELAKELAPATPPSTPHNS 0.0 10:32322862-32322862 C>T 1.0 4158 COLORECTAL - - ID=COSM1347617;OCCURENCE=1(large_intestine) 1 KIF5B uc001iwe.4,p.A406T|NM_004521,p.A406T|ENST00000302418,p.A406T protein_coding, processed_transcript uc001iwe.4 nonsynonymous SNV exon12 c.G1216A p.A406T KDITLTNDKPATAIGVIGNFTDAER KDITLTNDKPATTIGVIGNFTDAER 10.0 3.0 - - 4158_10:32322862-32322862 C>T_KDITLTNDKPATTIGVIGNFTDAER 0.0 17:39776978-39776978 C>T 1.0 3713 MELANOMA - - - - KRT17 uc002hxh.2,p.D372N|ENST00000311208,p.D372N|NM_000422,p.D372N|ENST00000540235,p.D531N retained_intron, protein_coding uc002hxh.2 nonsynonymous SNV exon6 c.G1114A p.D372N MEQQNQEYKILLDVKTRLEQEIATY MEQQNQEYKILLNVKTRLEQEIATY 3.0 1.0 - - 3713_17:39776978-39776978 C>T_MEQQNQEYKILLNVKTRLEQEIATY 0.0 5:100147675-100147675 T>A 0.0 4345 COLORECTAL - - - - ST8SIA4 NM_005668,p.D319V|uc003knk.3,p.D319V|ENST00000231461,p.D319V protein_coding, processed_transcript, nonsense_mediated_decay uc003knk.3 nonsynonymous SNV exon5 c.A956T p.D319V LNGKAVKYHYYDDLKYRYFSNASPH LNGKAVKYHYYDVLKYRYFSNASPH 4.0 10.0 - - 4345_5:100147675-100147675 T>A_LNGKAVKYHYYDVLKYRYFSNASPH 0.0 8:76476257-76476257 G>A 0.0 4301 MELANOMA - - - - HNF4G uc003yaq.3,p.E385K|uc003yar.3,p.E422K|NM_004133,p.E422K|ENST00000354370,p.E385K|ENST00000396423,p.E422K protein_coding, processed_transcript uc003yar.3 nonsynonymous SNV exon10 c.G1264A p.E422K TPLPSPPQGSGQEQYKIAANQASVI TPLPSPPQGSGQKQYKIAANQASVI 2.0 5.0 - - 4301_8:76476257-76476257 G>A_TPLPSPPQGSGQKQYKIAANQASVI 0.0 22:37414289-37414289 A>C 0.0 4189 MELANOMA - - - - TST uc031rxn.1,p.L162R|uc003aqg.4,p.L162R|ENST00000249042,p.L162R|NM_001270483,p.L162R|uc003aqh.4,p.L162R|ENST00000403892,p.L162R|NM_003312,p.L162R protein_coding uc031rxn.1 nonsynonymous SNV exon2 c.T485G p.L162R PAVFKATLDRSLLKTYEQVLENLES PAVFKATLDRSLRKTYEQVLENLES 3.0 6.0 - - 4189_22:37414289-37414289 A>C_PAVFKATLDRSLRKTYEQVLENLES 0.0 19:54973880-54973880 G>A 1.0 4000 MELANOMA - - - - LENG9 uc010yez.2,p.P299L|NM_198988,p.P299L|ENST00000333834,p.P299L protein_coding uc010yez.2 nonsynonymous SNV exon1 c.C896T p.P299L GGSAETTEAEWGPAAWPEDKRARLS GGSAETTEAEWGLAAWPEDKRARLS 4.0 5.0 - - 4000_19:54973880-54973880 G>A_GGSAETTEAEWGLAAWPEDKRARLS 0.0 15:51017458-51017458 C>T 1.0 4126 NSCLC - - - - SPPL2A NM_032802,p.M403I|ENST00000261854,p.M403I|uc001zyv.3,p.M403I retained_intron, protein_coding, processed_transcript uc001zyv.3 nonsynonymous SNV exon12 c.G1209A p.M403I KLIYFSVMSVCLMPVSILGFGDIIV KLIYFSVMSVCLIPVSILGFGDIIV 9.0 1.0 - - 4126_15:51017458-51017458 C>T_KLIYFSVMSVCLIPVSILGFGDIIV 0.0 6:17850596-17850596 G>C 0.0 4335 COLORECTAL - - - - KIF13A ENST00000378826,p.F225L|ENST00000378843,p.F225L|uc003nch.4,p.F225L|ENST00000378816,p.F225L|NM_022113,p.F225L|uc003nci.4,p.F225L|NM_001105567,p.F225L|ENST00000259711,p.F225L|NM_001105566,p.F225L|ENST00000378814,p.F225L|NM_001105568,p.F225L|uc003ncg.4,p.F225L|uc003ncf.3,p.F225L retained_intron, protein_coding, processed_transcript uc003nci.4 nonsynonymous SNV exon8 c.C675G p.F225L NMNEESSRSHAVFNIIITQTLYDLQ NMNEESSRSHAVLNIIITQTLYDLQ 7.0 2.0 - - 4335_6:17850596-17850596 G>C_NMNEESSRSHAVLNIIITQTLYDLQ 0.0 2:170917883-170917883 G>T 1.0 4234 NSCLC - - - - UBR3 ENST00000418381,p.C1650F|uc002ufu.4,p.C156F|uc010zdi.2,p.C1650F|ENST00000439681,p.C350F|uc002uft.4,p.C507F|ENST00000272793,p.C1650F|uc010fqa.3,p.C471F|ENST00000392631,p.C471F|uc010zdj.2,p.C341F|NM_172070,p.C1650F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010zdj.2 nonsynonymous SNV exon10 c.G1022T p.C341F SPESMEKCLQDFCLPFLRITSLLQH SPESMEKCLQDFFLPFLRITSLLQH 7.0 7.0 - - 4234_2:170917883-170917883 G>T_SPESMEKCLQDFFLPFLRITSLLQH 0.0 16:14015933-14015933 C>T 1.0 3903 MELANOMA - - - 1 ERCC4 uc010bva.3,p.P85S|ENST00000575156,p.P85S|ENST00000311895,p.P85S|uc002dce.2,p.P85S|NM_005236,p.P85S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010bva.3 nonsynonymous SNV exon2 c.C253T p.P85S INQLKIEGVEHLPRRVTNEITSNSR INQLKIEGVEHLSRRVTNEITSNSR 6.0 7.0 - - 3903_16:14015933-14015933 C>T_INQLKIEGVEHLSRRVTNEITSNSR 0.0 1:1198734-1198734 G>A 1.0 3713 MELANOMA - - - - UBE2J2 uc001ado.3,p.P71L|NM_194315,p.P71L|ENST00000400930,p.P71L|ENST00000422076,p.P71L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001ado.3 nonsynonymous SNV exon4 c.C212T p.P71L YRHYVVRGPEMTPYEGGYYHGKLIF YRHYVVRGPEMTLYEGGYYHGKLIF 9.0 10.0 - - 3713_1:1198734-1198734 G>A_YRHYVVRGPEMTLYEGGYYHGKLIF 0.0 3:47164353-47164353 C>A 1.0 4000 MELANOMA - - - 1 SETD2 ENST00000412450,p.Q547H|ENST00000409792,p.Q591H|uc003cqs.3,p.Q591H|NM_014159,p.Q591H|uc003cqv.3,p.Q580H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003cqv.3 nonsynonymous SNV exon3 c.G1740T p.Q580H NEEIKQSHSFSLQTPCSKGSELRMI NEEIKQSHSFSLHTPCSKGSELRMI 8.0 5.0 - - 4000_3:47164353-47164353 C>A_NEEIKQSHSFSLHTPCSKGSELRMI 0.0 19:15296174-15296174 G>C 0.0 4258 ENDOMETRIAL - - - - NOTCH3 uc002nan.3,p.S730R|ENST00000263388,p.S730R|ENST00000601011,p.S729R|NM_000435,p.S730R|uc002nao.1,p.S730R retained_intron, protein_coding, nonsense_mediated_decay uc002nao.1 nonsynonymous SNV exon14 c.C2190G p.S730R CVCEPGWSGPRCSQSLARDACESQP CVCEPGWSGPRCRQSLARDACESQP 7.0 4.0 - - 4258_19:15296174-15296174 G>C_CVCEPGWSGPRCRQSLARDACESQP 0.0 9:123908397-123908397 G>A 1.0 3713 MELANOMA - - - 1 CNTRL ENST00000373847,p.G556S|uc004bky.1,p.G712S|ENST00000373850,p.G556S|NM_007018,p.G1108S|uc004bla.1,p.G556S|ENST00000238341,p.G1108S|uc004bkx.1,p.G1108S|ENST00000373855,p.G1108S protein_coding, processed_transcript uc004bla.1 nonsynonymous SNV exon12 c.G1666A p.G556S NVLDLTGSDNKGGFENVLEEIAELR NVLDLTGSDNKGSFENVLEEIAELR 4.0 4.0 - - 3713_9:123908397-123908397 G>A_NVLDLTGSDNKGSFENVLEEIAELR 0.0 12:52629114-52629114 G>A 0.0 3713 MELANOMA - - - - KRT7 ENST00000331817,p.R167Q|uc001saa.1,p.R167Q|NM_005556,p.R167Q retained_intron, protein_coding, processed_transcript uc001saa.1 nonsynonymous SNV exon2 c.G500A p.R167Q LQVDGGRLEAELRSMQDVVEDFKNK LQVDGGRLEAELQSMQDVVEDFKNK 1.0 6.0 - - 3713_12:52629114-52629114 G>A_LQVDGGRLEAELQSMQDVVEDFKNK 0.0 1:158622439-158622439 G>A 0.0 4196 COLORECTAL - - - - SPTA1 ENST00000368147,p.R1065C|NM_003126,p.R1065C|ENST00000368148,p.R1065C|uc001fst.1,p.R1065C protein_coding, processed_transcript uc001fst.1 nonsynonymous SNV exon23 c.C3193T p.R1065C ITQRQEQIENQYRSLLDRAEERRRR ITQRQEQIENQYCSLLDRAEERRRR 4.0 9.0 - - 4196_1:158622439-158622439 G>A_ITQRQEQIENQYCSLLDRAEERRRR 0.0 1:99127378-99127378 T>G 1.0 4237 NSCLC - - - - SNX7 ENST00000529992,p.F31V|uc010oud.2,p.F31V|NM_015976,p.F31V|ENST00000306121,p.F31V|uc010ouc.2,p.F31V|NM_152238,p.F31V protein_coding, processed_transcript, nonsense_mediated_decay uc010oud.2 nonsynonymous SNV exon1 c.T91G p.F31V GANGESPGGGAPFPGSSGSSALLQA GANGESPGGGAPVPGSSGSSALLQA 7.0 10.0 - - 4237_1:99127378-99127378 T>G_GANGESPGGGAPVPGSSGSSALLQA 0.0 19:36884487-36884487 T>G 0.0 4298 COLORECTAL - - - - ZFP82 NM_133466,p.K252T|ENST00000392161,p.K252T|ENST00000392171,p.K252T|uc002ody.1,p.K252T retained_intron, protein_coding uc002ody.1 nonsynonymous SNV exon5 c.A755C p.K252T DLRVHQKMHIGEKPYECKECGKAFR DLRVHQKMHIGETPYECKECGKAFR 3.0 2.0 - - 4298_19:36884487-36884487 T>G_DLRVHQKMHIGETPYECKECGKAFR 0.0 12:116446341-116446341 G>A 1.0 4244 COLORECTAL 0.0014 - - - MED13L uc001tvw.3,p.P626L|ENST00000281928,p.P626L|NM_015335,p.P626L retained_intron, protein_coding, processed_transcript uc001tvw.3 nonsynonymous SNV exon10 c.C1877T p.P626L ETALYCGIRPSNPESSEKWWHSYRL ETALYCGIRPSNLESSEKWWHSYRL 6.0 7.0 - - 4244_12:116446341-116446341 G>A_ETALYCGIRPSNLESSEKWWHSYRL 0.0 10:33475386-33475386 T>G 1.0 3919 MELANOMA - - - - NRP1 uc001iwx.4,p.D698A|ENST00000265371,p.D698A|NM_003873,p.D698A|uc001iww.4,p.D510A|uc001iwv.4,p.D698A|ENST00000374875,p.D510A|uc001iwy.4,p.D691A|ENST00000395995,p.D698A|NM_001244973,p.D691A|ENST00000374867,p.D698A protein_coding, processed_transcript uc001iwy.4 nonsynonymous SNV exon14 c.A2072C p.D691A HTGDGNFIYSQADENQKGKVARLVS HTGDGNFIYSQAAENQKGKVARLVS 9.0 3.0 - - 3919_10:33475386-33475386 T>G_HTGDGNFIYSQAAENQKGKVARLVS 0.0 7:43918638-43918638 C>T 1.0 4078 GASTRIC - - - - URGCP uc011kbj.2,p.A99T|ENST00000402306,p.A133T|uc003tix.3,p.A133T|NM_001290075,p.A99T|ENST00000455877,p.A99T|ENST00000443736,p.A99T|ENST00000426198,p.A99T|ENST00000223341,p.A99T|NM_001077663,p.A142T|uc003tiw.3,p.A142T|ENST00000453200,p.A142T|ENST00000336086,p.A99T|NM_001290076,p.A99T|NM_001077664,p.A99T|uc003tiv.3,p.A67T|NM_017920,p.A133T|uc003tiu.3,p.A99T|uc003tiz.3,p.A99T|ENST00000447717,p.A99T|uc003tiy.3,p.A99T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011kbj.2 nonsynonymous SNV exon7 c.G295A p.A99T RNTTMVLDVLPDARPVEKESQMEEE RNTTMVLDVLPDTRPVEKESQMEEE 8.0 2.0 - - 4078_7:43918638-43918638 C>T_RNTTMVLDVLPDTRPVEKESQMEEE 0.0 X:140995299-140995299 C>A 1.0 4281 COLORECTAL - - - - MAGEC1 NM_005462,p.D703E|ENST00000285879,p.D703E|uc022cfi.1,p.D362E|uc004fbt.3,p.D703E protein_coding uc022cfi.1 nonsynonymous SNV exon1 c.C1086A p.D362E PLQIPQSPLEGEDSLSSLHFPQSPP PLQIPQSPLEGEESLSSLHFPQSPP 2.0 6.0 - - 4281_X:140995299-140995299 C>A_PLQIPQSPLEGEESLSSLHFPQSPP 0.0 X:51076226-51076226 G>A 0.0 4316 COLORECTAL - - - - NUDT10 ENST00000356450,p.A137T|NM_153183,p.A137T|uc004dpi.4,p.A137T|ENST00000376006,p.A137T|uc004dph.3,p.A137T protein_coding uc004dpi.4 nonsynonymous SNV exon1 c.G409A p.A137T AIKVLQCHKPVHAEYLEKLKLGGSP AIKVLQCHKPVHTEYLEKLKLGGSP 1.0 6.0 - - 4316_X:51076226-51076226 G>A_AIKVLQCHKPVHTEYLEKLKLGGSP 0.0 4:183664338-183664338 G>A 1.0 3998 MELANOMA - - - - TENM3 ENST00000406950,p.G1132E|uc003ivd.1,p.G1132E|ENST00000511685,p.G1132E|uc003ive.1,p.G538E|NM_001080477,p.G1132E retained_intron, protein_coding, processed_transcript uc003ive.1 nonsynonymous SNV exon11 c.G1613A p.G538E HVLDVQNGILYKGNGENQFISQQPP HVLDVQNGILYKENGENQFISQQPP 9.0 5.0 - - 3998_4:183664338-183664338 G>A_HVLDVQNGILYKENGENQFISQQPP 0.0 8:27097502-27097502 G>A 0.0 4298 COLORECTAL - - - - STMN4 uc003xfj.3,p.R193W|ENST00000350889,p.R193W|ENST00000265770,p.R166W|NM_001283054,p.R166W|NM_030795,p.R193W|uc003xfk.3,p.R166W retained_intron, protein_coding uc003xfk.3 nonsynonymous SNV exon5 c.C496T p.R166W ENREAHLAAMLERLQEKDKHAEEVR ENREAHLAAMLEWLQEKDKHAEEVR 2.0 7.0 - - 4298_8:27097502-27097502 G>A_ENREAHLAAMLEWLQEKDKHAEEVR 0.0 5:140604405-140604405 A>G 1.0 4284 COLORECTAL - - - - PCDHB14 NM_018934,p.D443G|ENST00000515856,p.D290G|uc003ljb.3,p.D443G|ENST00000239449,p.D443G protein_coding uc003ljb.3 nonsynonymous SNV exon1 c.A1328G p.D443G LKTEYNITVLLSDVNDNAPTFTQTS LKTEYNITVLLSGVNDNAPTFTQTS 8.0 10.0 - - 4284_5:140604405-140604405 A>G_LKTEYNITVLLSGVNDNAPTFTQTS 0.0 16:77369780-77369780 C>T 0.0 4275 COLORECTAL - - - - ADAMTS18 uc010chc.1,p.V166I|uc002ffc.4,p.V578I|NM_199355,p.V578I|ENST00000282849,p.V578I|uc002ffe.1,p.V274I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010chc.1 nonsynonymous SNV exon7 c.G496A p.V166I CGLSMWCRQGQCVKFGELGPRPIHG CGLSMWCRQGQCIKFGELGPRPIHG 4.0 5.0 - - 4275_16:77369780-77369780 C>T_CGLSMWCRQGQCIKFGELGPRPIHG 0.0 5:83402543-83402543 T>A 0.0 4284 COLORECTAL - - - - EDIL3 ENST00000380138,p.Y182F|NM_001278642,p.Y182F|uc003kip.1,p.Y182F|NM_005711,p.Y192F|ENST00000296591,p.Y192F|uc003kio.1,p.Y192F protein_coding, processed_transcript uc003kip.1 nonsynonymous SNV exon5 c.A545T p.Y182F HRALFGLQKWYPYYARLNKKGLINA HRALFGLQKWYPFYARLNKKGLINA 6.0 1.0 - - 4284_5:83402543-83402543 T>A_HRALFGLQKWYPFYARLNKKGLINA 0.0 5:45645472-45645472 A>T 0.0 2556 MELANOMA - - - - HCN1 ENST00000303230,p.F222I|NM_021072,p.F222I|uc003jok.3,p.F222I protein_coding uc003jok.3 nonsynonymous SNV exon2 c.T664A p.F222I PKVIKMNYLKSWFVVDFISSIPVDY PKVIKMNYLKSWIVVDFISSIPVDY 3.0 2.0 - - 2556_5:45645472-45645472 A>T_PKVIKMNYLKSWIVVDFISSIPVDY 0.0 15:51217323-51217323 T>C 1.0 4301 MELANOMA - - - - AP4E1 ENST00000560508,p.V75A|NM_001252127,p.V75A|NM_007347,p.V150A|ENST00000561393,p.V75A|ENST00000261842,p.V150A|uc001zyx.2,p.V150A|uc021skz.1,p.V75A|ENST00000561441,p.V150A|uc010ufi.2,p.V150A|ENST00000558439,p.V150A protein_coding, processed_transcript, nonsense_mediated_decay uc021skz.1 nonsynonymous SNV exon5 c.T224C p.V75A VVKDLQSTNLVEVCMALTVVSQIFP VVKDLQSTNLVEACMALTVVSQIFP 7.0 6.0 - - 4301_15:51217323-51217323 T>C_VVKDLQSTNLVEACMALTVVSQIFP 0.0 12:25054798-25054798 C>T 0.0 4235 COLORECTAL - - - - BCAT1 ENST00000539282,p.A22T|uc010six.2,p.A22T|NM_001178093,p.A22T protein_coding, processed_transcript uc010six.2 nonsynonymous SNV exon2 c.G64A p.A22T ALARQDCSNGCSAECTGEGGSKEVV ALARQDCSNGCSTECTGEGGSKEVV 5.0 8.0 - - 4235_12:25054798-25054798 C>T_ALARQDCSNGCSTECTGEGGSKEVV 0.0 6:152551708-152551708 C>A 0.0 4126 NSCLC - - - - SYNE1 NM_182961,p.V7057F|ENST00000423061,p.V6986F|uc003qou.4,p.V7057F|ENST00000356820,p.V1581F|NM_033071,p.V6986F|uc003qot.4,p.V6986F|ENST00000367255,p.V7057F|ENST00000341594,p.V6669F|uc003qos.4,p.V1581F|ENST00000448038,p.V6986F|ENST00000265368,p.V7057F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003qou.4 nonsynonymous SNV exon115 c.G21169T p.V7057F LKQQHRIGDQASVQNALKDCQDLED LKQQHRIGDQASFQNALKDCQDLED 6.0 10.0 - - 4126_6:152551708-152551708 C>A_LKQQHRIGDQASFQNALKDCQDLED 0.0 16:83250989-83250989 C>T 0.0 4258 ENDOMETRIAL - - - - CDH13 uc002fgx.3,p.L175F|NM_001220488,p.L222F|NM_001257,p.L175F|uc010vnu.2,p.L136F|ENST00000566620,p.L175F|uc010vns.2,p.L222F|ENST00000268613,p.L222F|ENST00000428848,p.L136F|NM_001220489,p.L136F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vnu.2 nonsynonymous SNV exon4 c.C406T p.L136F VDSDRPERSKFRLTGKGVDQEPKGI VDSDRPERSKFRFTGKGVDQEPKGI 5.0 10.0 - - 4258_16:83250989-83250989 C>T_VDSDRPERSKFRFTGKGVDQEPKGI 0.0 8:145668159-145668159 A>G 1.0 4046 OVARIAN - - - - TONSL ENST00000409379,p.M160T|NM_013432,p.M160T|uc011llg.2,p.M160T retained_intron, protein_coding uc011llg.2 nonsynonymous SNV exon5 c.T479C p.M160T LEGTLAQGELNEMRTRLYLNLGLTF LEGTLAQGELNETRTRLYLNLGLTF 8.0 1.0 - - 4046_8:145668159-145668159 A>G_LEGTLAQGELNETRTRLYLNLGLTF 0.0 20:45131112-45131112 C>A 0.0 4316 COLORECTAL - - - - ZNF334 uc002xsc.4,p.G289V|ENST00000457685,p.G251V|ENST00000347606,p.G289V|uc010ghl.4,p.G288V|NM_018102,p.G289V|uc002xsb.4,p.G251V|uc031rtw.1,p.G251V|uc002xsa.4,p.G312V|ENST00000593880,p.G312V|uc002xsd.4,p.G251V|NM_001270497,p.G288V protein_coding uc031rtw.1 nonsynonymous SNV exon5 c.G752T p.G251V KTSLTRHRRIHTGERPYECSECRKT KTSLTRHRRIHTVERPYECSECRKT 3.0 1.0 - - 4316_20:45131112-45131112 C>A_KTSLTRHRRIHTVERPYECSECRKT 0.0 16:814723-814723 T>A 0.0 4196 COLORECTAL - - - - MSLN ENST00000382862,p.L126H|uc010brd.1,p.L125H|NM_013404,p.L126H|uc002cjt.1,p.L126H|ENST00000563941,p.L126H|uc002cjw.2,p.L126H|NM_001177355,p.L126H|ENST00000569566,p.L126H|ENST00000563651,p.L126H|ENST00000566549,p.L126H|ENST00000545450,p.L126H|uc002cju.1,p.L126H|NM_005823,p.L126H protein_coding uc010brd.1 nonsynonymous SNV exon6 c.T374A p.L125H DLDALPLDLLLFLNPDAFSGPQACT DLDALPLDLLLFHNPDAFSGPQACT 6.0 5.0 - - 4196_16:814723-814723 T>A_DLDALPLDLLLFHNPDAFSGPQACT 0.0 15:59752274-59752274 A>C 1.0 2369 MELANOMA - - - - FAM81A uc002agc.2,p.K55Q|ENST00000560087,p.K64Q|ENST00000558348,p.K55Q|ENST00000560074,p.K55Q|NM_152450,p.K55Q|ENST00000560474,p.K64Q|ENST00000557914,p.K55Q|ENST00000288228,p.K55Q|ENST00000561361,p.K55Q|uc010uha.2,p.K55Q|ENST00000559628,p.K55Q|ENST00000560394,p.K55Q retained_intron, protein_coding, processed_transcript uc010uha.2 nonsynonymous SNV exon3 c.A163C p.K55Q TTAALVEHAFRIKDDIVNSLQKMQN TTAALVEHAFRIQDDIVNSLQKMQN 7.0 5.0 - - 2369_15:59752274-59752274 A>C_TTAALVEHAFRIQDDIVNSLQKMQN 0.0 16:24583233-24583233 C>T 1.0 4000 MELANOMA - - - - RBBP6 NM_006910,p.P1616S|uc002dmi.3,p.P1582S|uc010bxr.3,p.P776S|uc002dmh.3,p.P1616S|ENST00000381039,p.P776S|ENST00000319715,p.P1616S|ENST00000348022,p.P1582S|NM_018703,p.P1582S|uc002dmk.3,p.P1449S retained_intron, protein_coding uc010bxr.3 nonsynonymous SNV exon11 c.C2326T p.P776S TGQIDKSTVKPKPQLSHSSRLSSDL TGQIDKSTVKPKSQLSHSSRLSSDL 10.0 9.0 - - 4000_16:24583233-24583233 C>T_TGQIDKSTVKPKSQLSHSSRLSSDL 0.0 1:236914796-236914796 C>A 0.0 4240 BREAST - - ID=COSM400979;OCCURENCE=1(lung) - ACTN2 ENST00000366578,p.F561L|uc001hyg.2,p.F353L|uc009xgi.1,p.F561L|uc001hyf.2,p.F561L|NM_001278344,p.F353L|NM_001103,p.F561L|ENST00000546208,p.F55L|uc010pxu.1,p.F250L|NM_001278343,p.F561L|ENST00000542672,p.F561L protein_coding, processed_transcript uc010pxu.1 nonsynonymous SNV exon8 c.C750A p.F250L EEIQSLITAHEQFKATLPEADGERQ EEIQSLITAHEQLKATLPEADGERQ 2.0 6.0 - - 4240_1:236914796-236914796 C>A_EEIQSLITAHEQLKATLPEADGERQ 0.0 10:30749736-30749736 C>T 0.0 4160 COLORECTAL - - - - MAP3K8 NM_001244134,p.R459W|uc001ivj.2,p.R459W|NM_005204,p.R459W|ENST00000542547,p.R459W|ENST00000263056,p.R459W|uc009xlf.2,p.R459W|ENST00000375321,p.R459W|uc001ivi.2,p.R459W protein_coding uc009xlf.2 nonsynonymous SNV exon8 c.C1375T p.R459W DLGALAGYFNLVRGPPTLEYG DLGALAGYFNLVWGPPTLEYG 7.0 7.0 - - 4160_10:30749736-30749736 C>T_DLGALAGYFNLVWGPPTLEYG 0.0 5:139917106-139917106 C>T 1.0 4252 COLORECTAL - - - - ANKHD1,ANKHD1-EIF4EBP3 ENST00000437495,p.A415V|NM_017747,p.A2387V|uc011czh.1,p.A1143V|uc003lfs.2,p.A2387V|NM_020690,p.A2387V|ENST00000544120,p.A711V|uc003lfx.1,p.A541V|ENST00000433049,p.A926V|ENST00000431508,p.A1060V|ENST00000297183,p.A2387V|uc010jfl.3,p.A763V|uc003lfr.3,p.A2387V|ENST00000360839,p.A2387V|uc003lfw.3,p.A1042V|ENST00000532219,p.A2387V retained_intron, protein_coding, processed_transcript uc011czh.1 nonsynonymous SNV exon11 c.C3428T p.A1143V RIRQGGSVAQAPAGTSFVAPVGHSG RIRQGGSVAQAPVGTSFVAPVGHSG 10.0 9.0 - - 4252_5:139917106-139917106 C>T_RIRQGGSVAQAPVGTSFVAPVGHSG 0.0 3:192078301-192078301 T>C 0.0 4266 COLORECTAL - - - - FGF12 ENST00000264730,p.R14G|ENST00000418610,p.R14G|ENST00000450716,p.R14G|NM_004113,p.R14G|ENST00000445105,p.R14G|uc003fsy.3,p.R14G retained_intron, protein_coding, processed_transcript uc003fsy.3 nonsynonymous SNV exon3 c.A40G p.R14G ESKEPQLKGIVTRLFSQQGYFLQMH ESKEPQLKGIVTGLFSQQGYFLQMH 4.0 3.0 - - 4266_3:192078301-192078301 T>C_ESKEPQLKGIVTGLFSQQGYFLQMH 0.0 5:140724589-140724589 G>A 1.0 3713 MELANOMA - - - - PCDHGA3 NM_032011,p.R330K|NM_018916,p.R330K|uc003ljm.2,p.R330K|uc011dap.2,p.R330K|ENST00000253812,p.R330K protein_coding uc011dap.2 nonsynonymous SNV exon1 c.G989A p.R330K KIEAQDGPGLLSRAKILVTVLDVND KIEAQDGPGLLSKAKILVTVLDVND 3.0 6.0 - - 3713_5:140724589-140724589 G>A_KIEAQDGPGLLSKAKILVTVLDVND 0.0 12:48272770-48272770 C>T 1.0 3713 MELANOMA - - - - VDR uc001rqn.3,p.G43S|ENST00000550314,p.G43S|NM_001017536,p.G93S|NM_000376,p.G43S|ENST00000548664,p.G43S|ENST00000395324,p.G43S|uc001rqm.3,p.G43S|ENST00000546653,p.G43S|uc001rql.3,p.G93S|NM_001017535,p.G43S|ENST00000229022,p.G43S|ENST00000550325,p.G93S|ENST00000549336,p.G43S protein_coding, nonsense_mediated_decay uc001rqn.3 nonsynonymous SNV exon3 c.G127A p.G43S ATGFHFNAMTCEGCKGFFRRSMKRK ATGFHFNAMTCESCKGFFRRSMKRK 5.0 4.0 - - 3713_12:48272770-48272770 C>T_ATGFHFNAMTCESCKGFFRRSMKRK 0.0 10:31799763-31799763 T>A 0.0 4259 COLORECTAL - - - 2 ZEB1 uc001ivv.4,p.L195H|NM_001174096,p.L216H|NM_001174095,p.L148H|uc009xlj.1,p.L141H|ENST00000542815,p.L148H|uc010qeh.2,p.L148H|ENST00000446923,p.L199H|uc001ivs.4,p.L215H|ENST00000559476,p.L199H|uc001ivu.4,p.L216H|ENST00000361642,p.L216H|ENST00000424869,p.L216H|NM_030751,p.L215H|NM_001128128,p.L199H|ENST00000560721,p.L195H|ENST00000320985,p.L215H|ENST00000561212,p.L223H|ENST00000558440,p.L141H|uc010qeg.1,p.L74H|uc009xlo.2,p.L198H|NM_001174094,p.L198H|NM_001174093,p.L195H|uc009xlp.3,p.L199H retained_intron, protein_coding, processed_transcript uc010qeh.2 nonsynonymous SNV exon4 c.T443A p.L148H SLCSYTFAYRTQLERHMTSHKSGRD SLCSYTFAYRTQHERHMTSHKSGRD 6.0 1.0 - - 4259_10:31799763-31799763 T>A_SLCSYTFAYRTQHERHMTSHKSGRD 0.0 X:119500396-119500396 C>T 0.0 4238 COLORECTAL - - ID=COSM3424404,COSM3424405;OCCURENCE=1(large_intestine) - ATP1B4 ENST00000539306,p.A27V|NM_001142447,p.A27V|uc011mtx.2,p.A27V|uc004esq.3,p.A27V|uc011mty.2,p.A27V|uc004esr.3,p.A27V|ENST00000361319,p.A27V|ENST00000218008,p.A27V|NM_012069,p.A27V protein_coding uc011mty.2 nonsynonymous SNV exon2 c.C80T p.A27V YSYRYRLDDPDEANQNYLADEEEEA YSYRYRLDDPDEVNQNYLADEEEEA 1.0 10.0 - - 4238_X:119500396-119500396 C>T_YSYRYRLDDPDEVNQNYLADEEEEA 0.0 12:50294951-50294951 G>A 0.0 4078 GASTRIC - - ID=COSM300472;OCCURENCE=1(large_intestine) - FAIM2 ENST00000320634,p.A58V|ENST00000550635,p.A58V|NM_012306,p.A58V|uc001rvj.2,p.A58V|ENST00000550195,p.A58V protein_coding, nonsense_mediated_decay uc001rvj.2 nonsynonymous SNV exon2 c.C173T p.A58V GMKAGAFPPAPTAVPLHPSWAYVDP GMKAGAFPPAPTVVPLHPSWAYVDP 2.0 10.0 - - 4078_12:50294951-50294951 G>A_GMKAGAFPPAPTVVPLHPSWAYVDP 0.0 11:111941931-111941931 ->T 1.0 4346 COLORECTAL - - - - PIH1D2 ENST00000525744,p.N91fs|ENST00000431456,p.N126fs|ENST00000532211,p.N126fs|ENST00000530641,p.N126fs|uc009yyl.3,p.N126fs|ENST00000280350,p.N126fs|ENST00000528775,p.N126fs|NM_138789,p.N126fs|uc010rws.1,p.N126fs|uc001pmp.4,p.N126fs|NM_001082619,p.N126fs protein_coding, processed_transcript, non_stop_decay uc010rws.1 frameshift insertion exon4 c.377dupA p.N126fs VLHAAEKDQVKKNQLIQMAMKCIEE VLHAAEKDQVKKKSVNSDGHEMH 4.0 5.0 - - 4346_11:111941931-111941931 ->T_VLHAAEKDQVKKKSVNSDGHEMH 0.0 7:102967057-102967057 G>A 1.0 3713 MELANOMA - - - - DNAJC2 uc010lix.3,p.P169S|uc003vbo.3,p.P169S|ENST00000379263,p.P169S|ENST00000454277,p.P95S|NM_014377,p.P169S|NM_001129887,p.P169S|ENST00000249270,p.P169S retained_intron, protein_coding, nonsense_mediated_decay uc010lix.3 nonsynonymous SNV exon5 c.C505T p.P169S FNSVDPTFDNSVPSKSEAKDNFFEV FNSVDPTFDNSVSSKSEAKDNFFEV 7.0 8.0 - - 3713_7:102967057-102967057 G>A_FNSVDPTFDNSVSSKSEAKDNFFEV 0.0 10:72492066-72492066 G>A 1.0 3713 MELANOMA - - - - ADAMTS14 NM_139155,p.E390K|NM_080722,p.E387K|ENST00000373208,p.E390K|ENST00000373207,p.E387K|uc001jrh.3,p.E387K|uc001jrg.3,p.E390K protein_coding uc001jrh.3 nonsynonymous SNV exon7 c.G1159A p.E387K MCHPLRSCALNHEDGFSSAFVIAHE MCHPLRSCALNHKDGFSSAFVIAHE 2.0 7.0 - - 3713_10:72492066-72492066 G>A_MCHPLRSCALNHKDGFSSAFVIAHE 0.0 10:115391292-115391292 ->AG 0.0 4160 COLORECTAL - - - - NRAP ENST00000369360,p.L579fs|NM_006175,p.L571fs|uc001lal.4,p.L606fs|uc001laj.4,p.L606fs|NM_001261463,p.L606fs|uc001lak.4,p.L571fs|ENST00000360478,p.L571fs|ENST00000359988,p.L606fs|NM_198060,p.L606fs|ENST00000369358,p.L614fs protein_coding uc001lal.4 frameshift insertion exon18 c.1817_1818insCT p.L606fs AMGTADSRLLHSLQIAKMSSEVEYK AMGTADSRLLHSLCRLLR 1.0 8.0 - - 4160_10:115391292-115391292 ->AG_AMGTADSRLLHSLCRLLR 0.0 2:100210490-100210490 C>T 0.0 4160 COLORECTAL - - - 1 AFF3 uc010yvr.1,p.V698M|uc010fiq.1,p.V545M|ENST00000409579,p.V570M|uc002taf.3,p.V570M|ENST00000317233,p.V545M|uc002tag.3,p.V545M|uc002tah.1,p.V570M|NM_002285,p.V545M|NM_001025108,p.V570M|ENST00000409236,p.V545M|ENST00000356421,p.V570M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010yvr.1 nonsynonymous SNV exon15 c.G2092A p.V698M PRTANKAPGSKGVKQKSPPAAVAVA PRTANKAPGSKGMKQKSPPAAVAVA 4.0 8.0 - - 4160_2:100210490-100210490 C>T_PRTANKAPGSKGMKQKSPPAAVAVA 0.0 19:2934529-2934529 G>C 0.0 4078 GASTRIC - - - - ZNF77 uc002lws.4,p.S199C|NM_021217,p.S199C|ENST00000314531,p.S199C protein_coding, processed_transcript uc002lws.4 nonsynonymous SNV exon4 c.C596G p.S199C EKPCNCQDSRTASVTYVKSLSSKKS EKPCNCQDSRTACVTYVKSLSSKKS 4.0 5.0 - - 4078_19:2934529-2934529 G>C_EKPCNCQDSRTACVTYVKSLSSKKS 0.0 5:66055568-66055568 C>T 0.0 4326 BREAST - - - - MAST4 ENST00000406374,p.P132L|uc021xzk.1,p.P132L|NM_001164664,p.P132L|ENST00000406039,p.P132L|NM_001290228,p.P132L|ENST00000403625,p.P132L|ENST00000404260,p.P132L|uc003jur.4,p.P132L|uc010iwz.3,p.P132L|NM_198828,p.P132L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021xzk.1 nonsynonymous SNV exon2 c.C395T p.P132L EELDHILSPPPMPFRKCSNPDVASG EELDHILSPPPMLFRKCSNPDVASG 7.0 2.0 - - 4326_5:66055568-66055568 C>T_EELDHILSPPPMLFRKCSNPDVASG 0.0 12:75434899-75434899 A>G 0.0 4278 COLORECTAL - - - - KCNC2 uc009zry.4,p.L623P|NM_001260498,p.L623P|ENST00000341669,p.L623P|ENST00000550433,p.L623P protein_coding, processed_transcript uc009zry.4 nonsynonymous SNV exon5 c.T1868C p.L623P EFSHTKDYTGNRLLLLNVP EFSHTKDYTGNRPLLLNVP 3.0 2.0 - - 4278_12:75434899-75434899 A>G_EFSHTKDYTGNRPLLLNVP 0.0 20:32295624-32295624 G>C 1.0 3466 MELANOMA - - - - PXMP4 uc002wzv.3,p.S176C|ENST00000409299,p.S176C|NM_007238,p.S176C protein_coding uc002wzv.3 nonsynonymous SNV exon4 c.C527G p.S176C WGLVLWLFEYHRSTLQPSLQSSMTY WGLVLWLFEYHRCTLQPSLQSSMTY 6.0 6.0 CD8 - 3466_20:32295624-32295624 G>C_WGLVLWLFEYHRCTLQPSLQSSMTY 1.0 10:119100554-119100554 A>T 1.0 3466 MELANOMA - - - - PDZD8 uc001lde.1,p.I311N|ENST00000334464,p.I311N|NM_173791,p.I311N protein_coding, processed_transcript uc001lde.1 nonsynonymous SNV exon2 c.T932A p.I311N QTLQGFEEDEEHIHIQQWALTEGRL QTLQGFEEDEEHNHIQQWALTEGRL 9.0 5.0 CD8 - 3466_10:119100554-119100554 A>T_QTLQGFEEDEEHNHIQQWALTEGRL 1.0 6:71570033-71570033 A>T 1.0 4000 MELANOMA - - - - SMAP1 NM_001281440,p.K457I|uc010kap.3,p.K457I|ENST00000316999,p.K440I|uc003pfr.3,p.K467I|uc003pfs.3,p.K440I|NM_021940,p.K440I|ENST00000370455,p.K467I|NM_001044305,p.K467I protein_coding uc010kap.3 nonsynonymous SNV exon11 c.A1370T p.K457I SSSGQTLSTQLWK SSSGQTLSTQLWI 8.0 2.0 - - 4000_6:71570033-71570033 A>T_SSSGQTLSTQLWI 0.0 16:66839834-66839834 C>G 0.0 4237 NSCLC - - - - NAE1 uc002eqg.3,p.D387H|ENST00000379463,p.D470H|ENST00000290810,p.D476H|uc002eqf.3,p.D476H|NM_001018159,p.D470H|uc010cdv.3,p.D479H|NM_003905,p.D476H|uc002eqe.3,p.D470H|NM_001018160,p.D387H|ENST00000394074,p.D387H|NM_001286500,p.D479H|ENST00000359087,p.D479H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010cdv.3 nonsynonymous SNV exon18 c.G1435C p.D479H FLQEYGLSVMVKDDYVHEFCRYGAA FLQEYGLSVMVKHDYVHEFCRYGAA 8.0 10.0 - - 4237_16:66839834-66839834 C>G_FLQEYGLSVMVKHDYVHEFCRYGAA 0.0 10:101590067-101590067 A>G 0.0 4234 NSCLC - - ID=COSM199838;OCCURENCE=1(large_intestine) - ABCC2 ENST00000370449,p.H875R|NM_000392,p.H875R|uc001kqf.2,p.H875R protein_coding, processed_transcript uc001kqf.2 nonsynonymous SNV exon20 c.A2624G p.H875R LRHTGPEEEATVHDGSEEEDDDYGL LRHTGPEEEATVRDGSEEEDDDYGL 5.0 10.0 - - 4234_10:101590067-101590067 A>G_LRHTGPEEEATVRDGSEEEDDDYGL 0.0 7:83739836-83739836 C>T 1.0 3795 MELANOMA - - - - SEMA3A uc003uhz.3,p.G135R|NM_006080,p.G135R|ENST00000265362,p.G135R|ENST00000436949,p.G135R|ENST00000420047,p.G135R protein_coding, processed_transcript uc003uhz.3 nonsynonymous SNV exon4 c.G403A p.G135R AYNQTHLYACGTGAFHPICTYIEIG AYNQTHLYACGTRAFHPICTYIEIG 10.0 4.0 - - 3795_7:83739836-83739836 C>T_AYNQTHLYACGTRAFHPICTYIEIG 0.0 19:49132422-49132422 C>G 0.0 4245 COLORECTAL - - - - SPHK2 NM_001243876,p.L247V|NM_001204159,p.L453V|NM_001204158,p.L394V|NM_001204160,p.L417V|ENST00000600537,p.L394V|uc002pjw.3,p.L515V|uc002pjt.3,p.L247V|ENST00000599748,p.L417V|uc010xzt.2,p.L394V|NM_020126,p.L453V|uc002pjr.3,p.L453V|ENST00000598088,p.L453V|ENST00000340932,p.L415V|ENST00000245222,p.L453V|uc002pjv.3,p.L417V|ENST00000443164,p.L515V|ENST00000599029,p.L417V|uc002pjs.3,p.L453V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay uc010xzt.2 nonsynonymous SNV exon7 c.C1180G p.L394V LPILSLNGGGPELAGDWGGAGDAPL LPILSLNGGGPEVAGDWGGAGDAPL 7.0 6.0 - - 4245_19:49132422-49132422 C>G_LPILSLNGGGPEVAGDWGGAGDAPL 0.0 13:76397747-76397747 G>A 1.0 3713 MELANOMA - - - - LMO7 ENST00000341547,p.R614K|uc010thw.2,p.R513K|ENST00000377534,p.R948K|uc001vjw.1,p.R569K|ENST00000526202,p.R513K|ENST00000357063,p.R948K|uc021rkq.1,p.R896K|NM_005358,p.R614K|uc010thv.2,p.R614K|ENST00000377499,p.R562K|ENST00000465261,p.R663K|uc001vjt.1,p.R562K|NM_015842,p.R663K|ENST00000321797,p.R663K|uc001vjv.3,p.R663K retained_intron, protein_coding, processed_transcript uc021rkq.1 nonsynonymous SNV exon15 c.G2687A p.R896K AWKYNGDVEDIKRTPNNVVSTPAPS AWKYNGDVEDIKKTPNNVVSTPAPS 5.0 8.0 - - 3713_13:76397747-76397747 G>A_AWKYNGDVEDIKKTPNNVVSTPAPS 0.0 10:83637750-83637750 G>A 0.0 4284 COLORECTAL - - ID=COSM1474824;OCCURENCE=1(breast) - NRG3 NM_001165973,p.V12I|uc021pvd.1,p.V12I|uc001kcp.2,p.V12I|ENST00000372142,p.V12I protein_coding, nonsense_mediated_decay uc021pvd.1 nonsynonymous SNV exon1 c.G34A p.V12I MECGIPPTLVCVGRGGGLHTINII MECGIPPTLVCIGRGGGLHTINII 3.0 1.0 - - 4284_10:83637750-83637750 G>A_MECGIPPTLVCIGRGGGLHTINII 0.0 1:196397380-196397380 A>G 0.0 4259 COLORECTAL - - - - KCNT2 uc009wyv.1,p.L255S|uc009wyu.3,p.L280S|uc001gte.1,p.L280S|ENST00000367433,p.L280S|ENST00000294725,p.L280S|uc001gtf.1,p.L280S|NM_001287819,p.L280S|ENST00000367431,p.L280S|NM_001287820,p.L280S|uc001gtd.1,p.L280S|NM_198503,p.L280S protein_coding, processed_transcript uc009wyv.1 nonsynonymous SNV exon9 c.T764C p.L255S VVLPIQFEQLAYLWMERQKSGGNYS VVLPIQFEQLAYSWMERQKSGGNYS 4.0 9.0 - - 4259_1:196397380-196397380 A>G_VVLPIQFEQLAYSWMERQKSGGNYS 0.0 14:20874556-20874556 G>A 1.0 3713 MELANOMA - - - - TEP1 ENST00000556935,p.R191C|uc001vxe.3,p.R191C|ENST00000555727,p.R191C|NM_007110,p.R191C|ENST00000262715,p.R191C|uc010tlg.1,p.R191C retained_intron, protein_coding, nonsense_mediated_decay uc010tlg.1 nonsynonymous SNV exon3 c.C571T p.R191C SATETAQEATLGRWFDSEEKKGAET SATETAQEATLGCWFDSEEKKGAET 9.0 8.0 - - 3713_14:20874556-20874556 G>A_SATETAQEATLGCWFDSEEKKGAET 0.0 8:23159556-23159556 C>T 1.0 3713 MELANOMA - - - - LOXL2 uc003xdh.1,p.G706E|ENST00000389131,p.G706E|NM_002318,p.G706E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003xdh.1 nonsynonymous SNV exon12 c.G2117A p.G706E DCQWVDITDVPPGDYLFQVVINPNF DCQWVDITDVPPEDYLFQVVINPNF 6.0 4.0 - - 3713_8:23159556-23159556 C>T_DCQWVDITDVPPEDYLFQVVINPNF 0.0 7:4051785-4051785 C>T 0.0 4266 COLORECTAL - - ID=COSM1450671;OCCURENCE=1(large_intestine) - SDK1 ENST00000404826,p.R780W|uc003smx.3,p.R780W|ENST00000389531,p.R780W|uc010kso.3,p.R56W|NM_152744,p.R780W retained_intron, protein_coding, processed_transcript uc010kso.3 nonsynonymous SNV exon2 c.C166T p.R56W PSAPPKNIVASGRTNQSIMVQWQPP PSAPPKNIVASGWTNQSIMVQWQPP 5.0 9.0 - - 4266_7:4051785-4051785 C>T_PSAPPKNIVASGWTNQSIMVQWQPP 0.0 19:52538108-52538108 C>T 1.0 4320 COLORECTAL - - - - ZNF432 NM_014650,p.R275H|ENST00000221315,p.R275H|ENST00000594154,p.R275H|uc002pyk.3,p.R275H protein_coding, processed_transcript uc002pyk.3 nonsynonymous SNV exon5 c.G824A p.R275H CSECGKVFTMKSRLIEHQRTHTGEK CSECGKVFTMKSHLIEHQRTHTGEK 6.0 9.0 - - 4320_19:52538108-52538108 C>T_CSECGKVFTMKSHLIEHQRTHTGEK 0.0 6:31543648-31543648 G>A 0.0 4238 COLORECTAL - - - - TNF NM_000594,p.A44T|ENST00000449264,p.A44T|uc003nui.4,p.A44T protein_coding uc003nui.4 nonsynonymous SNV exon1 c.G130A p.A44T FLSLFSFLIVAGATTLFCLLHFGVI FLSLFSFLIVAGTTTLFCLLHFGVI 1.0 8.0 - - 4238_6:31543648-31543648 G>A_FLSLFSFLIVAGTTTLFCLLHFGVI 0.0 1:86951039-86951039 G>A 0.0 4110 BILE DUCT - - - - CLCA1 uc001dls.1,p.C189Y|NM_001285,p.C250Y|uc001dlt.3,p.C250Y|ENST00000234701,p.C250Y|ENST00000394711,p.C250Y protein_coding, processed_transcript uc001dlt.3 nonsynonymous SNV exon6 c.G749A p.C250Y MFAQHVDSIVEFCTEQNHNKEAPNK MFAQHVDSIVEFYTEQNHNKEAPNK 1.0 7.0 - - 4110_1:86951039-86951039 G>A_MFAQHVDSIVEFYTEQNHNKEAPNK 0.0 11:68179073-68179073 T>C 1.0 4180 BREAST - - - - LRP5 uc001ont.3,p.S830P|NM_002335,p.S830P|NM_001291902,p.S249P|ENST00000294304,p.S830P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001ont.3 nonsynonymous SNV exon11 c.T2488C p.S830P LYWTDLDTNMIESSNMLGQERVVIA LYWTDLDTNMIEPSNMLGQERVVIA 9.0 9.0 - - 4180_11:68179073-68179073 T>C_LYWTDLDTNMIEPSNMLGQERVVIA 0.0 12:12974979-12974979 G>A 1.0 4284 COLORECTAL - - - - DDX47 ENST00000352940,p.E175K|ENST00000544400,p.E112K|ENST00000358007,p.E175K|uc001rax.3,p.E175K|uc009zhw.1,p.E175K|uc001rav.3,p.E175K|NM_201224,p.E175K|uc001ray.3,p.E175K|NM_016355,p.E175K retained_intron, protein_coding, processed_transcript uc009zhw.1 nonsynonymous SNV exon5 c.G523A p.E175K FNLRALKYLVMDEADRILNMDFETE FNLRALKYLVMDKADRILNMDFETE 10.0 4.0 - - 4284_12:12974979-12974979 G>A_FNLRALKYLVMDKADRILNMDFETE 0.0 3:49744236-49744236 C>T 1.0 2369 MELANOMA - - - - RNF123 NM_022064,p.L801F|ENST00000432042,p.L655F|ENST00000327697,p.L801F|uc003cxh.4,p.L801F|uc010hky.1,p.L463F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010hky.1 nonsynonymous SNV exon16 c.C1387T p.L463F KLRRCPKRRKDILAELTKSQKVFSE KLRRCPKRRKDIFAELTKSQKVFSE 9.0 5.0 - - 2369_3:49744236-49744236 C>T_KLRRCPKRRKDIFAELTKSQKVFSE 0.0 1:182798035-182798035 G>T 0.0 3795 MELANOMA - - - - NPL NM_001200050,p.G300C|ENST00000367553,p.G319C|ENST00000367554,p.G300C|ENST00000258317,p.G319C|NM_030769,p.G319C|uc001gpo.2,p.G300C|uc009wyb.3,p.G319C protein_coding, processed_transcript uc009wyb.3 nonsynonymous SNV exon13 c.G955T p.G319C SFTDLKDGNLEAGS SFTDLKDGNLEACS 8.0 1.0 - - 3795_1:182798035-182798035 G>T_SFTDLKDGNLEACS 0.0 8:72754928-72754928 C>T 1.0 4278 COLORECTAL - - - - MSC NM_005098,p.A197T|ENST00000325509,p.A197T|uc003xyx.1,p.A197T protein_coding, processed_transcript uc003xyx.1 nonsynonymous SNV exon2 c.G589A p.A197T SGRPDSDTKEVSAANRLCGTTA SGRPDSDTKEVSTANRLCGTTA 4.0 2.0 - - 4278_8:72754928-72754928 C>T_SGRPDSDTKEVSTANRLCGTTA 0.0 1:173916575-173916575 T>C 0.0 4158 COLORECTAL - - - - RC3H1 uc010pms.2,p.Y890C|NM_001300852,p.Y890C|NM_001300851,p.Y890C|ENST00000258349,p.Y890C|ENST00000367696,p.Y890C|NM_172071,p.Y890C|ENST00000367694,p.Y890C|uc010pmt.2,p.Y890C|uc001gjv.3,p.Y890C|uc001gju.4,p.Y890C|NM_001300850,p.Y890C retained_intron, protein_coding uc010pmt.2 nonsynonymous SNV exon14 c.A2669G p.Y890C RFGAISRTSKTIYQGAGPMQAMAPQ RFGAISRTSKTICQGAGPMQAMAPQ 7.0 5.0 - - 4158_1:173916575-173916575 T>C_RFGAISRTSKTICQGAGPMQAMAPQ 0.0 18:907749-907749 C>T 0.0 4275 COLORECTAL - - - - ADCYAP1 uc010dkg.3,p.A67V|NM_001099733,p.A67V|NM_001117,p.A67V|ENST00000579794,p.A67V|ENST00000450565,p.A67V|uc010dkh.4,p.A67V retained_intron, protein_coding uc010dkh.4 nonsynonymous SNV exon2 c.C200T p.A67V GSEPPGAGSPASAPRAAAAWYRPAG GSEPPGAGSPASVPRAAAAWYRPAG 2.0 10.0 - - 4275_18:907749-907749 C>T_GSEPPGAGSPASVPRAAAAWYRPAG 0.0 2:216251523-216251523 G>A 1.0 2591 MELANOMA - - - - FN1 ENST00000354785,p.R1501W|ENST00000456923,p.R217W|NM_002026,p.R1410W|uc010zjp.2,p.R128W|ENST00000359671,p.R1410W|NM_212476,p.R1410W|ENST00000357867,p.R1410W|uc002vfb.3,p.R1410W|ENST00000345488,p.R1410W|ENST00000446046,p.R1410W|ENST00000421182,p.R1410W|ENST00000357009,p.R1410W|uc002vfi.3,p.R1501W|uc002vfe.3,p.R1410W|NM_212482,p.R1501W|NM_212474,p.R1410W|uc002vfa.3,p.R1501W|NM_212478,p.R1410W|ENST00000443816,p.R1410W|uc002vfc.3,p.R1410W|uc002vfg.3,p.R1410W|uc002vfh.3,p.R1410W|uc002vfj.3,p.R1501W|uc002vff.3,p.R1410W|ENST00000336916,p.R1410W|ENST00000323926,p.R1501W|ENST00000356005,p.R1410W|ENST00000432072,p.R1501W|ENST00000346544,p.R1410W retained_intron, protein_coding, processed_transcript uc010zjp.2 nonsynonymous SNV exon4 c.C382T p.R128W SGRPREDRVPHSRNSITLTNLTPGT SGRPREDRVPHSWNSITLTNLTPGT 10.0 4.0 - - 2591_2:216251523-216251523 G>A_SGRPREDRVPHSWNSITLTNLTPGT 0.0 17:57676116-57676116 A>C 1.0 4335 COLORECTAL - - - - DHX40 uc002ixn.2,p.K534T|NM_024612,p.K534T|ENST00000451169,p.K486T|NM_001166301,p.K457T|uc010woe.2,p.K457T|ENST00000425628,p.K457T|ENST00000251241,p.K534T|uc010wof.2,p.K49T retained_intron, protein_coding, nonsense_mediated_decay uc010wof.2 nonsynonymous SNV exon2 c.A146C p.K49T NVFIRPVDPEYQKEAEQRHRELAAK NVFIRPVDPEYQTEAEQRHRELAAK 8.0 5.0 - - 4335_17:57676116-57676116 A>C_NVFIRPVDPEYQTEAEQRHRELAAK 0.0 X:134125217-134125217 G>A 0.0 4316 COLORECTAL - - - - SMIM10 ENST00000330288,p.R31H|uc011mvs.2,p.R31H|NM_001163438,p.R31H protein_coding uc011mvs.2 nonsynonymous SNV exon1 c.G92A p.R31H AAALSGLAVRLSRPQGTRGSYGAFC AAALSGLAVRLSHPQGTRGSYGAFC 1.0 7.0 - - 4316_X:134125217-134125217 G>A_AAALSGLAVRLSHPQGTRGSYGAFC 0.0 19:18779361-18779361 G>A 0.0 4278 COLORECTAL - - - - KLHL26 NM_018316,p.R385H|uc002njz.1,p.R385H|ENST00000300976,p.R385H protein_coding, processed_transcript, nonsense_mediated_decay uc002njz.1 nonsynonymous SNV exon3 c.G1154A p.R385H YRSGEGAVDACYRYDPHLNRWLRLQ YRSGEGAVDACYHYDPHLNRWLRLQ 5.0 7.0 - - 4278_19:18779361-18779361 G>A_YRSGEGAVDACYHYDPHLNRWLRLQ 0.0 10:111624956-111624956 A>T 1.0 3678 MELANOMA - - - - XPNPEP1 uc001kyp.2,p.S663T|uc009xxt.2,p.S639T|NM_020383,p.S663T|ENST00000322238,p.S639T|ENST00000369683,p.S549T|NM_001167604,p.S639T|ENST00000502935,p.S663T|ENST00000369680,p.S620T|uc001kyq.2,p.S549T retained_intron, protein_coding, processed_transcript uc009xxt.2 nonsynonymous SNV exon20 c.T1915A p.S639T ALEWLIRETQPISKQH ALEWLIRETQPITKQH 9.0 9.0 CD8 - 3678_10:111624956-111624956 A>T_ALEWLIRETQPITKQH 1.0 21:47349844-47349844 T>G 0.0 4246 COLORECTAL - - - - PCBP3 ENST00000400308,p.L218R|NM_001130141,p.L218R|ENST00000400309,p.L243R|ENST00000400304,p.L234R|uc002zht.2,p.L234R|uc002zhs.2,p.L218R retained_intron, protein_coding, processed_transcript uc002zht.2 nonsynonymous SNV exon9 c.T701G p.L234R GQYAIPHPDLTKLHQLAMQQTPFPP GQYAIPHPDLTKRHQLAMQQTPFPP 3.0 2.0 - - 4246_21:47349844-47349844 T>G_GQYAIPHPDLTKRHQLAMQQTPFPP 0.0 2:72406588-72406588 A>C 1.0 3879 MELANOMA - - - - EXOC6B ENST00000272427,p.M771R|uc010fep.3,p.M771R|NM_015189,p.M771R protein_coding, processed_transcript, nonsense_mediated_decay uc010fep.3 nonsynonymous SNV exon22 c.T2312G p.M771R VNPVTALTLLEKMKDTSRKNNMFAQ VNPVTALTLLEKRKDTSRKNNMFAQ 8.0 4.0 - - 3879_2:72406588-72406588 A>C_VNPVTALTLLEKRKDTSRKNNMFAQ 0.0 13:24242922-24242922 A>C 0.0 4259 COLORECTAL - - - - TNFRSF19 NM_018647,p.M311L|ENST00000403372,p.M179L|ENST00000248484,p.M311L|NM_148957,p.M311L|uc010tcu.2,p.M179L|uc001uot.3,p.M311L|NM_001204459,p.M179L|uc001uow.3,p.M311L|uc001uov.2,p.M311L|NM_001204458,p.M311L|ENST00000382258,p.M311L|ENST00000382263,p.M311L protein_coding, processed_transcript uc010tcu.2 nonsynonymous SNV exon7 c.A535C p.M179L SICGEFSDAWPLMQNPMGGDNISFC SICGEFSDAWPLLQNPMGGDNISFC 7.0 3.0 - - 4259_13:24242922-24242922 A>C_SICGEFSDAWPLLQNPMGGDNISFC 0.0 5:14368832-14368832 G>A 1.0 4078 GASTRIC - - - - TRIO uc011cna.1,p.A915T|ENST00000512070,p.A905T|ENST00000513206,p.A697T|ENST00000344204,p.A964T|uc003jff.3,p.A964T|NM_007118,p.A964T|uc003jfh.1,p.A613T|ENST00000509967,p.A915T|ENST00000537187,p.A964T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cna.1 nonsynonymous SNV exon17 c.G2743A p.A915T QFQHAIEKTHQSALQVQQKAEAMLQ QFQHAIEKTHQSTLQVQQKAEAMLQ 10.0 5.0 - - 4078_5:14368832-14368832 G>A_QFQHAIEKTHQSTLQVQQKAEAMLQ 0.0 4:20544117-20544117 G>A 1.0 3784 MELANOMA - - ID=COSM1694187;OCCURENCE=1(skin) - SLIT2 uc003gps.1,p.G707E|ENST00000273739,p.G719E|ENST00000503823,p.G707E|NM_001289135,p.G711E|NM_004787,p.G715E|ENST00000503837,p.G711E|ENST00000504154,p.G715E|uc003gpr.1,p.G715E|NM_001289136,p.G707E retained_intron, protein_coding, processed_transcript uc003gps.1 nonsynonymous SNV exon20 c.G2120A p.G707E QDVAIQDFTCDDGNDDNSCSPLSRC QDVAIQDFTCDDENDDNSCSPLSRC 7.0 5.0 - - 3784_4:20544117-20544117 G>A_QDVAIQDFTCDDENDDNSCSPLSRC 0.0 11:121016634-121016634 C>T 1.0 3678 MELANOMA - - - - TECTA ENST00000392793,p.P1305L|uc010rzo.2,p.P1305L|NM_005422,p.P1305L|ENST00000264037,p.P1305L protein_coding, processed_transcript uc010rzo.2 nonsynonymous SNV exon11 c.C3914T p.P1305L GFSKVQQLCSLIPNQNAAFSKCHSK GFSKVQQLCSLILNQNAAFSKCHSK 3.0 4.0 - - 3678_11:121016634-121016634 C>T_GFSKVQQLCSLILNQNAAFSKCHSK 0.0 1:222742860-222742860 C>A 1.0 4234 NSCLC - - - - TAF1A ENST00000350027,p.V296L|NM_005681,p.V296L|NM_001201536,p.V296L|NM_139352,p.V182L|ENST00000366890,p.V182L|ENST00000391883,p.V258L|uc001hnj.3,p.V296L|ENST00000352967,p.V296L|ENST00000391882,p.V182L|uc009xdz.2,p.V296L|uc001hni.2,p.V182L protein_coding, processed_transcript uc009xdz.2 nonsynonymous SNV exon7 c.G886T p.V296L KRQKAPRSKLISVLKILYQIVPSHK KRQKAPRSKLISLLKILYQIVPSHK 7.0 1.0 - - 4234_1:222742860-222742860 C>A_KRQKAPRSKLISLLKILYQIVPSHK 0.0 16:2278454-2278454 A>G 0.0 4316 COLORECTAL - - - - E4F1 uc010bsj.3,p.K80R|NM_001288776,p.K80R|ENST00000564139,p.K80R|uc002cpm.3,p.K80R|ENST00000565090,p.K80R|uc010bsi.3,p.K80R|ENST00000565413,p.K58R|NM_001288778,p.K80R|NM_004424,p.K80R|ENST00000301727,p.K80R retained_intron, protein_coding, nonsense_mediated_decay uc010bsj.3 nonsynonymous SNV exon2 c.A239G p.K80R TALEDFVQHKIQKACQRAPPEALPA TALEDFVQHKIQRACQRAPPEALPA 7.0 2.0 - - 4316_16:2278454-2278454 A>G_TALEDFVQHKIQRACQRAPPEALPA 0.0 14:105179863-105179863 G>A 1.0 4244 COLORECTAL - - - - INF2 ENST00000392634,p.R987Q|uc001ypb.2,p.R987Q|NM_001031714,p.R987Q|ENST00000330634,p.R987Q|uc001ypc.2,p.R987Q|NM_022489,p.R987Q|ENST00000252527,p.R455Q retained_intron, protein_coding, nonsense_mediated_decay uc001ypc.2 nonsynonymous SNV exon20 c.G2960A p.R987Q ALLADIRKGFQLRKTARGRGDTDGG ALLADIRKGFQLQKTARGRGDTDGG 10.0 4.0 - - 4244_14:105179863-105179863 G>A_ALLADIRKGFQLQKTARGRGDTDGG 0.0 19:36278433-36278433 C>T 1.0 4317 COLORECTAL 0.0005 - - - ARHGAP33 ENST00000007510,p.S989L|ENST00000314737,p.S828L|uc002obs.2,p.S828L|uc002obv.1,p.S577L|NM_052948,p.S828L retained_intron, protein_coding, processed_transcript uc002obv.1 nonsynonymous SNV exon8 c.C1730T p.S577L GSLLRSQRPMGTSRRGLRGPAQVSA GSLLRSQRPMGTLRRGLRGPAQVSA 9.0 7.0 - - 4317_19:36278433-36278433 C>T_GSLLRSQRPMGTLRRGLRGPAQVSA 0.0 2:109746315-109746315 G>A 0.0 4235 COLORECTAL - - - - SH3RF3 ENST00000309415,p.E107K|ENST00000418513,p.E107K|uc010ywt.1,p.E107K|NM_001099289,p.E107K protein_coding uc010ywt.1 nonsynonymous SNV exon1 c.G319A p.E107K PECRILVGCGVDELPANILLVRLLD PECRILVGCGVDKLPANILLVRLLD 4.0 6.0 - - 4235_2:109746315-109746315 G>A_PECRILVGCGVDKLPANILLVRLLD 0.0 9:94809535-94809535 C>G 0.0 4345 COLORECTAL - - - - SPTLC1 uc004arl.1,p.G334R|NM_001281303,p.G334R|NM_006415,p.G334R|ENST00000262554,p.G334R|uc011ltv.1,p.G334R protein_coding, processed_transcript uc011ltv.1 nonsynonymous SNV exon11 c.G1000C p.G334R SFVIDHQRLSGQGYCFSASLPPLLA SFVIDHQRLSGQRYCFSASLPPLLA 10.0 8.0 - - 4345_9:94809535-94809535 C>G_SFVIDHQRLSGQRYCFSASLPPLLA 0.0 14:23588135-23588135 C>T 0.0 4037 NSCLC - - - - CEBPE uc001wiv.2,p.D56N|NM_001805,p.D56N|ENST00000206513,p.D56N protein_coding uc001wiv.2 nonsynonymous SNV exon1 c.G166A p.D56N AYIESGEEQLLSDLFAVKPAPEARG AYIESGEEQLLSNLFAVKPAPEARG 1.0 10.0 - - 4037_14:23588135-23588135 C>T_AYIESGEEQLLSNLFAVKPAPEARG 0.0 3:124807192-124807192 A>T 1.0 3466 MELANOMA - - - - SLC12A8 uc003ehv.4,p.F648L|ENST00000430155,p.F449L|ENST00000393469,p.F648L|uc003ehw.4,p.F677L|NM_024628,p.F648L|NM_001195483,p.F648L|ENST00000423114,p.F677L|ENST00000469902,p.F648L|uc003eht.4,p.F449L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003ehw.4 nonsynonymous SNV exon13 c.T2031A p.F677L PGLHLGSASNFSFFRWMRSLLLPSC PGLHLGSASNFSLFRWMRSLLLPSC 3.0 5.0 - - 3466_3:124807192-124807192 A>T_PGLHLGSASNFSLFRWMRSLLLPSC 0.0 15:99901588-99901588 C>T 1.0 3466 MELANOMA - - - - LRRC28 ENST00000301981,p.S248L|ENST00000558172,p.S144L|uc002bvb.1,p.S94L|uc010urt.1,p.S62L|NM_001284400,p.S248L|uc010uru.1,p.S179L|uc002bva.1,p.S248L|NM_144598,p.S248L|ENST00000422500,p.S179L|uc002bvc.1,p.S248L|ENST00000447360,p.S248L|ENST00000561276,p.S203L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010uru.1 nonsynonymous SNV exon7 c.C536T p.S179L PIQVSEVKLLSFSSGQRTVFLPAEV PIQVSEVKLLSFLSGQRTVFLPAEV 6.0 8.0 - - 3466_15:99901588-99901588 C>T_PIQVSEVKLLSFLSGQRTVFLPAEV 0.0 8:139165408-139165408 G>T 0.0 4196 COLORECTAL - - - 2 FAM135B uc003yuy.3,p.T437K|NM_015912,p.T437K|uc003yux.3,p.T338K|ENST00000276737,p.T437K|ENST00000395297,p.T437K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003yuy.3 nonsynonymous SNV exon13 c.C1310A p.T437K VYPNFDVPVTSPTIMNLKDKEDNCM VYPNFDVPVTSPKIMNLKDKEDNCM 3.0 10.0 - - 4196_8:139165408-139165408 G>T_VYPNFDVPVTSPKIMNLKDKEDNCM 0.0 2:61475772-61475772 T>C 1.0 4245 COLORECTAL - - - - USP34 uc002sbe.3,p.R2090G|ENST00000398571,p.R2090G|ENST00000453734,p.R368G|uc002sbf.3,p.R240G|NM_014709,p.R2090G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002sbf.3 nonsynonymous SNV exon11 c.A718G p.R240G KKLPRILSFNTMRYTFNMVTMMKEK KKLPRILSFNTMGYTFNMVTMMKEK 9.0 1.0 - - 4245_2:61475772-61475772 T>C_KKLPRILSFNTMGYTFNMVTMMKEK 0.0 19:42085967-42085967 A>G 0.0 4335 COLORECTAL - - - - CEACAM21 ENST00000187608,p.K229R|NM_001290113,p.K101R|uc002org.4,p.K229R|NM_033543,p.K229R protein_coding, processed_transcript, nonsense_mediated_decay uc002org.4 nonsynonymous SNV exon3 c.A686G p.K229R SNPVSSNRSDPLKLTVKYDNTLGIL SNPVSSNRSDPLRLTVKYDNTLGIL 7.0 3.0 - - 4335_19:42085967-42085967 A>G_SNPVSSNRSDPLRLTVKYDNTLGIL 0.0 12:2656637-2656637 T>G 0.0 4317 COLORECTAL - - - - CACNA1C ENST00000335762,p.L471R|uc001qkv.1,p.L16R retained_intron, protein_coding, processed_transcript uc001qkv.1 nonsynonymous SNV exon3 c.T47G p.L16R EKPRNRGTPAGMLDQKKGKFAWFSH EKPRNRGTPAGMRDQKKGKFAWFSH 8.0 3.0 - - 4317_12:2656637-2656637 T>G_EKPRNRGTPAGMRDQKKGKFAWFSH 0.0 8:7807627-7807627 T>A 0.0 4284 COLORECTAL - - - - ZNF705B ENST00000443676,p.V71E|NM_001193630,p.V71E|uc010lro.1,p.V71E|ENST00000400120,p.V71E protein_coding uc010lro.1 nonsynonymous SNV exon5 c.T212A p.V71E LEQGKELWWEGRVFLQDQNPDRESA LEQGKELWWEGREFLQDQNPDRESA 3.0 6.0 - - 4284_8:7807627-7807627 T>A_LEQGKELWWEGREFLQDQNPDRESA 0.0 1:186331420-186331420 C>A 1.0 4326 BREAST - - - 1 TPR uc010pop.2,p.E339D|ENST00000367478,p.E263D|NM_003292,p.E263D|uc001grv.3,p.E263D retained_intron, protein_coding, processed_transcript uc010pop.2 nonsynonymous SNV exon8 c.G1017T p.E339D QKHVEDLLTKLKEAKEQQASMEEKF QKHVEDLLTKLKDAKEQQASMEEKF 10.0 6.0 - - 4326_1:186331420-186331420 C>A_QKHVEDLLTKLKDAKEQQASMEEKF 0.0 8:145665548-145665548 G>A 1.0 4000 MELANOMA - - - - TONSL NM_013432,p.P446S|ENST00000409379,p.P446S|uc011llg.2,p.P446S retained_intron, protein_coding uc011llg.2 nonsynonymous SNV exon11 c.C1336T p.P446S LQHLHTVQLRLQPQEAPETETRLRE LQHLHTVQLRLQSQEAPETETRLRE 6.0 10.0 - - 4000_8:145665548-145665548 G>A_LQHLHTVQLRLQSQEAPETETRLRE 0.0 20:23545624-23545624 G>C 0.0 4095 COLORECTAL - - - - CST9L NM_080610,p.F135L|uc002wtk.4,p.F135L|ENST00000376979,p.F135L protein_coding uc002wtk.4 nonsynonymous SNV exon3 c.C405G p.F135L FFTISTRPWMTQFSLLNKTCLEGFH FFTISTRPWMTQLSLLNKTCLEGFH 1.0 6.0 - - 4095_20:23545624-23545624 G>C_FFTISTRPWMTQLSLLNKTCLEGFH 0.0 1:26664847-26664847 T>C 0.0 4335 COLORECTAL - - - - AIM1L ENST00000527815,p.R282G|uc001bmd.4,p.R1156G|NM_001039775,p.R1156G|ENST00000308182,p.R111G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001bmd.4 nonsynonymous SNV exon7 c.A3466G p.R1156G TSDPSVGSLKPMRLGCPSVEKPGEP TSDPSVGSLKPMGLGCPSVEKPGEP 5.0 7.0 - - 4335_1:26664847-26664847 T>C_TSDPSVGSLKPMGLGCPSVEKPGEP 0.0 3:55504434-55504434 G>A 0.0 4078 GASTRIC - - - - WNT5A uc003dhm.3,p.R262W|ENST00000264634,p.R277W|NM_001256105,p.R262W|uc010hmw.4,p.R262W|ENST00000474267,p.R277W|NM_003392,p.R277W|ENST00000497027,p.R262W|uc003dhn.4,p.R277W|uc010hmx.4,p.R188W retained_intron, protein_coding, processed_transcript uc010hmx.4 nonsynonymous SNV exon5 c.C562T p.R188W ALKEKYDSAAAMRLNSRGKLVQVNS ALKEKYDSAAAMWLNSRGKLVQVNS 5.0 3.0 - - 4078_3:55504434-55504434 G>A_ALKEKYDSAAAMWLNSRGKLVQVNS 0.0 2:241622047-241622047 C>G 0.0 3775 CERVICAL - - - - AQP12B ENST00000407834,p.D70H|uc010fzj.3,p.D70H|NM_001102467,p.D70H protein_coding, processed_transcript, nonsense_mediated_decay uc010fzj.3 nonsynonymous SNV exon1 c.G208C p.D70H VELGPWAGDFGPDLLLTLLFLLFLA VELGPWAGDFGPHLLLTLLFLLFLA 1.0 7.0 - - 3775_2:241622047-241622047 C>G_VELGPWAGDFGPHLLLTLLFLLFLA 0.0 19:50169965-50169965 G>A 1.0 4155 MELANOMA - - - 2 BCL2L12 uc031rlw.1,p.E90K|uc031rma.1,p.E90K|NM_001282521,p.E90K|ENST00000246785,p.E90K|uc031rmd.1,p.E90K|uc031rlv.1,p.E90K|NM_138639,p.E90K|NM_001282517,p.E90K|uc031rlz.1,p.E90K|NM_001282520,p.E90K|NM_001282516,p.E90K|ENST00000441864,p.E90K|NM_001040668,p.E90K|uc031rlu.1,p.E90K|uc031rmb.1,p.E90K|NM_001282519,p.E90K|uc002ppb.3,p.E90K|uc002ppa.3,p.E90K|ENST00000598306,p.E27K|ENST00000246784,p.E90K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031rmd.1 nonsynonymous SNV exon2 c.G268A p.E90K GPGPGASMAGSEELGLREDTLRVLA GPGPGASMAGSEKLGLREDTLRVLA 8.0 6.0 - - 4155_19:50169965-50169965 G>A_GPGPGASMAGSEKLGLREDTLRVLA 0.0 14:21873467-21873467 A>G 1.0 4335 COLORECTAL - - - - CHD8 NM_001170629,p.S1070P|uc001wav.1,p.S233P|ENST00000430710,p.S791P|ENST00000557364,p.S1070P|ENST00000399982,p.S1070P|NM_020920,p.S791P|uc001was.2,p.S791P|uc001war.2,p.S1070P retained_intron, protein_coding, processed_transcript uc001wav.1 nonsynonymous SNV exon6 c.T697C p.S233P KKYYRAILEKNFSFLSKGAGHTNMP KKYYRAILEKNFPFLSKGAGHTNMP 9.0 2.0 - - 4335_14:21873467-21873467 A>G_KKYYRAILEKNFPFLSKGAGHTNMP 0.0 16:30964795-30964795 A>C 1.0 4244 COLORECTAL - - - - ORAI3 ENST00000318663,p.K173T|uc002eac.3,p.K173T|NM_152288,p.K173T|ENST00000566237,p.K173T protein_coding, nonsense_mediated_decay uc002eac.3 nonsynonymous SNV exon2 c.A518C p.K173T LFLAEVVLVGWVKFVPIGAPLDTPT LFLAEVVLVGWVTFVPIGAPLDTPT 8.0 5.0 - - 4244_16:30964795-30964795 A>C_LFLAEVVLVGWVTFVPIGAPLDTPT 0.0 1:110153092-110153092 C>G 0.0 4252 COLORECTAL - - - - GNAT2 ENST00000351050,p.Q52H|uc001dya.3,p.Q52H|NM_005272,p.Q52H protein_coding uc001dya.3 nonsynonymous SNV exon2 c.G156C p.Q52H GAGESGKSTIVKQMKIIHQDGYSPE GAGESGKSTIVKHMKIIHQDGYSPE 3.0 10.0 - - 4252_1:110153092-110153092 C>G_GAGESGKSTIVKHMKIIHQDGYSPE 0.0 17:80382373-80382373 C>T 1.0 3998 MELANOMA - - - - HEXDC ENST00000337014,p.A63V|ENST00000577944,p.A63V|NM_173620,p.A63V|ENST00000327949,p.A63V|uc002kew.3,p.A63V|uc002kev.4,p.A63V|ENST00000578632,p.A16V retained_intron, protein_coding, nonsense_mediated_decay uc002kew.3 nonsynonymous SNV exon2 c.C188T p.A63V YEGPLRLLRAKYAYSPSEIKEILHL YEGPLRLLRAKYVYSPSEIKEILHL 8.0 4.0 - - 3998_17:80382373-80382373 C>T_YEGPLRLLRAKYVYSPSEIKEILHL 0.0 20:368770-368770 C>T 1.0 3713 MELANOMA - - - - TRIB3 ENST00000217233,p.P39L|NM_001301201,p.P66L|uc002wdm.3,p.P39L|NM_001301193,p.P39L|NM_001301188,p.P39L|uc002wdn.3,p.P66L|ENST00000449710,p.P39L|NM_021158,p.P39L|NM_001301190,p.P39L|NM_001301196,p.P39L|ENST00000422053,p.P66L protein_coding, processed_transcript uc002wdn.3 nonsynonymous SNV exon3 c.C197T p.P66L TERPVQKRARSGPQPRLPPCLLPLS TERPVQKRARSGLQPRLPPCLLPLS 6.0 6.0 - - 3713_20:368770-368770 C>T_TERPVQKRARSGLQPRLPPCLLPLS 0.0 3:39185177-39185177 G>A 1.0 4213 COLORECTAL - - - - CSRNP1 ENST00000273153,p.P380L|NM_033027,p.P380L|uc003cjh.3,p.P380L|uc003cjg.3,p.P380L|ENST00000514182,p.P380L protein_coding uc003cjh.3 nonsynonymous SNV exon5 c.C1139T p.P380L APDCPTHPGLPGPGFQPGVDDDSLA APDCPTHPGLPGLGFQPGVDDDSLA 7.0 4.0 - - 4213_3:39185177-39185177 G>A_APDCPTHPGLPGLGFQPGVDDDSLA 0.0 2:165947051-165947051 C>T 0.0 4301 MELANOMA - - ID=COSM39151;OCCURENCE=1(central_nervous_system) - SCN3A NM_001081676,p.R1822Q|NM_001081677,p.R1822Q|uc002ucy.3,p.R1822Q|uc010zcy.2,p.R354Q|ENST00000283254,p.R1871Q|uc002ucx.3,p.R1871Q|ENST00000540861,p.R354Q|ENST00000409101,p.R1822Q|uc002ucz.3,p.R1822Q|ENST00000360093,p.R1871Q|NM_006922,p.R1871Q retained_intron, protein_coding, processed_transcript uc010zcy.2 nonsynonymous SNV exon3 c.G1061A p.R354Q RVLGESGEMDALRIQMEDRFMASNP RVLGESGEMDALQIQMEDRFMASNP 6.0 9.0 - - 4301_2:165947051-165947051 C>T_RVLGESGEMDALQIQMEDRFMASNP 0.0 9:130570976-130570976 A>G 1.0 4252 COLORECTAL - - - - FPGS NM_004957,p.D321G|ENST00000373225,p.D271G|uc004bsh.1,p.D138G|NM_001288803,p.D295G|ENST00000393706,p.D295G|NM_001018078,p.D271G|uc004bsi.1,p.D271G|ENST00000373247,p.D321G|uc004bsg.1,p.D321G|uc011mal.1,p.D295G protein_coding, processed_transcript uc011mal.1 nonsynonymous SNV exon9 c.A884G p.D295G ALQLAHCWLQRQDRHGAGEPKASRP ALQLAHCWLQRQGRHGAGEPKASRP 10.0 1.0 - - 4252_9:130570976-130570976 A>G_ALQLAHCWLQRQGRHGAGEPKASRP 0.0 10:61831113-61831113 C>T 0.0 3466 MELANOMA - - - - ANK3 uc001jky.3,p.E3176K|NM_020987,p.E3176K|ENST00000280772,p.E3176K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001jky.3 nonsynonymous SNV exon37 c.G9526A p.E3176K KSPLTPETPSSEEVSYEFTSKTPDS KSPLTPETPSSEKVSYEFTSKTPDS 5.0 5.0 - - 3466_10:61831113-61831113 C>T_KSPLTPETPSSEKVSYEFTSKTPDS 0.0 10:34671827-34671827 G>A 1.0 3713 MELANOMA - - - - PARD3 uc001ixp.2,p.A347V|uc010qep.2,p.A303V|ENST00000545693,p.A347V|uc010qej.2,p.A347V|ENST00000350537,p.A347V|uc001ixo.2,p.A77V|NM_019619,p.A347V|ENST00000346874,p.A347V|NM_001184793,p.A347V|ENST00000374790,p.A303V|uc010qel.2,p.A347V|uc010qen.2,p.A347V|ENST00000544292,p.A77V|ENST00000340077,p.A347V|ENST00000545260,p.A303V|NM_001184790,p.A303V|ENST00000374773,p.A347V|uc010qeo.2,p.A347V|ENST00000374776,p.A347V|ENST00000374788,p.A347V|ENST00000374789,p.A347V|NM_001184785,p.A347V|uc001ixu.2,p.A303V|uc010qeq.2,p.A303V|uc001ixq.2,p.A347V|ENST00000374794,p.A303V|NM_001184791,p.A303V|NM_001184794,p.A347V|uc001ixr.2,p.A347V|uc010qek.2,p.A347V|NM_001184788,p.A347V|NM_001184792,p.A347V|NM_001184787,p.A347V|uc001ixt.1,p.A168V|NM_001184786,p.A347V|uc010qem.2,p.A347V|NM_001184789,p.A347V protein_coding, processed_transcript uc010qeq.2 nonsynonymous SNV exon8 c.C908T p.A303V RRFEQAQHMFRQAMRTPIIWFHVVP RRFEQAQHMFRQVMRTPIIWFHVVP 4.0 5.0 - - 3713_10:34671827-34671827 G>A_RRFEQAQHMFRQVMRTPIIWFHVVP 0.0 3:122447408-122447408 A>C 1.0 4252 COLORECTAL - - - - PARP14 NM_017554,p.Q1790H|uc003efq.4,p.Q1790H|uc003efr.3,p.Q1507H|ENST00000474629,p.Q1790H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003efr.3 nonsynonymous SNV exon12 c.A4521C p.Q1507H HHPSLFVAFYDYQAYPEYLITFRK HHPSLFVAFYDYHAYPEYLITFRK 8.0 2.0 - - 4252_3:122447408-122447408 A>C_HHPSLFVAFYDYHAYPEYLITFRK 0.0 11:46693847-46693847 C>T 1.0 4252 COLORECTAL - - - - ATG13 ENST00000529655,p.R470C|uc009yld.3,p.R507C|NM_001142673,p.R507C|NM_001205119,p.R540C|uc001ndb.3,p.R507C|ENST00000359513,p.R507C|NM_001205120,p.R507C|ENST00000530500,p.R391C|uc001ndc.3,p.R470C|ENST00000524625,p.R470C|ENST00000528494,p.R540C|uc010rgv.2,p.R391C|ENST00000312040,p.R507C|NM_001205122,p.R391C|ENST00000451945,p.R470C|NM_014741,p.R470C|uc001nda.3,p.R540C|ENST00000526508,p.R507C|uc001ncz.3,p.R470C|NM_001205121,p.R470C|ENST00000434074,p.R507C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010rgv.2 nonsynonymous SNV exon15 c.C1171T p.R391C LPEKLAVHEKNVREFDAFVETLQ LPEKLAVHEKNVCEFDAFVETLQ 9.0 8.0 - - 4252_11:46693847-46693847 C>T_LPEKLAVHEKNVCEFDAFVETLQ 0.0 18:9954180-9954180 G>T 1.0 4244 COLORECTAL - - - - VAPA ENST00000340541,p.G286V|uc002kok.3,p.G241V|uc002koj.3,p.G286V|NM_003574,p.G286V|NM_194434,p.G241V|ENST00000400000,p.G241V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002kok.3 nonsynonymous SNV exon6 c.G722T p.G241V PSLLVVIAAIFIGFFLGKFIL PSLLVVIAAIFIVFFLGKFIL 10.0 10.0 CD8 - 4244_18:9954180-9954180 G>T_PSLLVVIAAIFIVFFLGKFIL 2.0 19:38230757-38230757 G>A 0.0 2369 MELANOMA - - - - ZNF573 NM_001172691,p.H210Y|uc002ohf.3,p.H154Y|NM_001172692,p.H124Y|ENST00000536220,p.H124Y|uc021utv.1,p.H124Y|ENST00000357309,p.H124Y|NM_001172689,p.H124Y|uc002ohg.3,p.H124Y|ENST00000339503,p.H154Y|ENST00000392138,p.H125Y|uc010efs.2,p.H125Y|ENST00000590414,p.H212Y|uc002ohe.3,p.H212Y|uc002ohd.3,p.H210Y|NM_152360,p.H154Y|NM_001172690,p.H212Y protein_coding, processed_transcript, nonsense_mediated_decay uc021utv.1 nonsynonymous SNV exon4 c.C370T p.H124Y RSGYQLTVHQRFHTGEKTYECRQCG RSGYQLTVHQRFYTGEKTYECRQCG 5.0 4.0 - - 2369_19:38230757-38230757 G>A_RSGYQLTVHQRFYTGEKTYECRQCG 0.0 3:154861315-154861315 G>A 1.0 3879 MELANOMA - - ID=COSM582160;OCCURENCE=1(lung) - MME uc031scb.1,p.G91E retained_intron, protein_coding, processed_transcript uc031scb.1 nonsynonymous SNV exon3 c.G272A p.G91E QTMSMGIWKMLWGGFMWKQHLLERV QTMSMGIWKMLWEGFMWKQHLLERV 6.0 10.0 - - 3879_3:154861315-154861315 G>A_QTMSMGIWKMLWEGFMWKQHLLERV 0.0 X:23724823-23724823 G>A 0.0 4081 COLORECTAL - - ID=COSM457273;OCCURENCE=1(breast) - ACOT9 ENST00000336430,p.T246M|uc004dao.3,p.T255M|uc004dar.3,p.T186M|NM_001033583,p.T246M|ENST00000473710,p.T172M|uc004dap.3,p.T246M|ENST00000379303,p.T255M|ENST00000379295,p.T186M|NM_001037171,p.T255M retained_intron, protein_coding, nonsense_mediated_decay uc004dar.3 nonsynonymous SNV exon9 c.C557T p.T186M ELNKGRRIAFSSTSLLKMAPSAEER ELNKGRRIAFSSMSLLKMAPSAEER 6.0 7.0 - - 4081_X:23724823-23724823 G>A_ELNKGRRIAFSSMSLLKMAPSAEER 0.0 8:85785574-85785574 A>C 0.0 4129 NSCLC - - - - RALYL NM_001100393,p.K209N|NM_001287243,p.K198N|ENST00000517638,p.K222N|NM_001100392,p.K209N|ENST00000521695,p.K209N|ENST00000523850,p.K136N|uc003ycr.4,p.K209N|NM_173848,p.K209N|uc003ycs.4,p.K209N|ENST00000521376,p.K120N|uc010lzy.3,p.K198N|NM_001100391,p.K222N|ENST00000521268,p.K209N|ENST00000518566,p.K198N|uc003yct.4,p.K222N|uc003ycu.4,p.K136N|ENST00000522455,p.K209N|NM_001287244,p.K136N|uc003ycq.4,p.K209N retained_intron, protein_coding uc010lzy.3 nonsynonymous SNV exon6 c.A594C p.K198N QTIKKELTQIKTKIDSLLGRLEKIE QTIKKELTQIKTNIDSLLGRLEKIE 1.0 8.0 - - 4129_8:85785574-85785574 A>C_QTIKKELTQIKTNIDSLLGRLEKIE 0.0 2:25972692-25972692 G>T 1.0 4069 PANCREATIC - - - 2 ASXL2 NM_018263,p.P578H|ENST00000404843,p.P318H|uc002rgt.1,p.P318H|uc002rgs.2,p.P578H|ENST00000272341,p.P318H|ENST00000435504,p.P578H|ENST00000336112,p.P550H protein_coding, processed_transcript uc002rgt.1 nonsynonymous SNV exon8 c.C953A p.P318H LKRKSSLTQEEAPVSWEKRPRVTEN LKRKSSLTQEEAHVSWEKRPRVTEN 8.0 9.0 - - 4069_2:25972692-25972692 G>T_LKRKSSLTQEEAHVSWEKRPRVTEN 0.0 3:15292741-15292741 C>T 1.0 3903 MELANOMA - - - - CAPN7 ENST00000253693,p.P806S|NM_014296,p.P806S|uc003bzn.3,p.P806S retained_intron, protein_coding, nonsense_mediated_decay uc003bzn.3 nonsynonymous SNV exon21 c.C2416T p.P806S EGPFFLDFNSIIPIKITQLQ EGPFFLDFNSIISIKITQLQ 7.0 2.0 - - 3903_3:15292741-15292741 C>T_EGPFFLDFNSIISIKITQLQ 0.0 X:128692610-128692610 G>A 0.0 4158 COLORECTAL - - - - OCRL ENST00000371113,p.G147E|ENST00000357121,p.G147E|uc004euq.3,p.G147E|NM_000276,p.G147E|NM_001587,p.G147E|uc004eur.3,p.G147E protein_coding, processed_transcript uc004eur.3 nonsynonymous SNV exon7 c.G440A p.G147E KLDTKDKPSVFSGLLGFEDNFSSMN KLDTKDKPSVFSELLGFEDNFSSMN 5.0 9.0 - - 4158_X:128692610-128692610 G>A_KLDTKDKPSVFSELLGFEDNFSSMN 0.0 7:82451994-82451994 G>A 1.0 3903 MELANOMA - - - - PCLO uc003uht.1,p.P312S|uc003uhu.1,p.P291S|uc003uhv.2,p.P4870S|NM_014510,p.P4870S|ENST00000333891,p.P4870S|ENST00000423517,p.P4870S|NM_033026,p.P4870S|uc003uhx.2,p.P4870S protein_coding, processed_transcript, nonsense_mediated_decay uc003uhx.2 nonsynonymous SNV exon20 c.C14608T p.P4870S GIFPDPSKDMQVPTIEKSHSSPGSS GIFPDPSKDMQVSTIEKSHSSPGSS 5.0 10.0 - - 3903_7:82451994-82451994 G>A_GIFPDPSKDMQVSTIEKSHSSPGSS 0.0 1:21071567-21071567 G>A 1.0 3713 MELANOMA - - - - HP1BP3 uc001bdv.1,p.P424L|uc010odh.1,p.P424L|uc010odf.1,p.P121L|uc010odg.1,p.P310L|uc001bdy.1,p.P462L|uc001bdw.1,p.P462L|ENST00000312239,p.P462L|ENST00000375003,p.P310L|NM_016287,p.P462L protein_coding, processed_transcript uc010odh.1 nonsynonymous SNV exon12 c.C1271T p.P424L EPPPKRRLQKKTPAKSPGKAASVKQ EPPPKRRLQKKTLAKSPGKAASVKQ 10.0 6.0 - - 3713_1:21071567-21071567 G>A_EPPPKRRLQKKTLAKSPGKAASVKQ 0.0 1:63282323-63282323 C>T 1.0 3879 MELANOMA - - ID=COSM1474132,COSM1474133;OCCURENCE=1(breast) - ATG4C ENST00000371118,p.R80C|NM_032852,p.R80C|ENST00000371120,p.R80C|NM_178221,p.R80C|ENST00000443289,p.R80C|uc001dau.3,p.R80C|ENST00000317868,p.R80C|uc001dat.3,p.R80C protein_coding uc001dau.3 nonsynonymous SNV exon4 c.C238T p.R80C EDHVIAGNVEEFRKDFISRIWLTYR EDHVIAGNVEEFCKDFISRIWLTYR 6.0 3.0 - - 3879_1:63282323-63282323 C>T_EDHVIAGNVEEFCKDFISRIWLTYR 0.0 17:11583132-11583132 G>A 0.0 2591 MELANOMA - - ID=COSM1709911;OCCURENCE=1(skin) - DNAH9 uc010coo.3,p.E432K|ENST00000454412,p.E1138K|NM_001372,p.E1138K|uc002gne.3,p.E1138K|ENST00000262442,p.E1138K retained_intron, protein_coding, processed_transcript uc010coo.3 nonsynonymous SNV exon6 c.G1294A p.E432K IKKSESGLLKKVEKGDFQGLVEIMG IKKSESGLLKKVKKGDFQGLVEIMG 1.0 4.0 - - 2591_17:11583132-11583132 G>A_IKKSESGLLKKVKKGDFQGLVEIMG 0.0 7:99445222-99445222 G>A 0.0 3998 MELANOMA 0.0005 - - - CYP3A43 ENST00000222382,p.E144K|NM_057095,p.E144K|NM_057096,p.E144K|ENST00000434806,p.E144K|uc003urx.1,p.E144K|ENST00000354829,p.E144K|ENST00000312017,p.E144K|uc003ury.1,p.E144K|NM_022820,p.E144K|uc003urz.1,p.E144K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003urz.1 nonsynonymous SNV exon5 c.G430A p.E144K LLSPAFTSVKFKEMVPIISQCGDML LLSPAFTSVKFKKMVPIISQCGDML 2.0 8.0 - - 3998_7:99445222-99445222 G>A_LLSPAFTSVKFKKMVPIISQCGDML 0.0 12:81768465-81768465 G>A 0.0 4155 MELANOMA - - - - PPFIA2 NM_001220478,p.T306I|NM_001220477,p.T331I|uc031qim.1,p.T405I|uc031qiu.1,p.T331I|ENST00000552948,p.T405I|NM_001220474,p.T387I|uc031qil.1,p.T306I|uc031qiq.1,p.T387I|uc031qin.1,p.T387I|NM_001282536,p.T252I|uc031qis.1,p.T405I|ENST00000407050,p.T331I|uc031qio.1,p.T405I|ENST00000443686,p.T306I|uc031qiw.1,p.T405I|uc031qiv.1,p.T306I|ENST00000548586,p.T405I|uc031qik.1,p.T331I|ENST00000550359,p.T252I|ENST00000550584,p.T405I|NM_001220476,p.T405I|uc031qiy.1,p.T405I|ENST00000549396,p.T405I|uc031qix.1,p.T405I|uc031qip.1,p.T405I|ENST00000333447,p.T387I|NM_001220475,p.T405I|ENST00000549325,p.T387I|NM_003625,p.T405I|NM_001220473,p.T405I|uc031qir.1,p.T405I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031qiy.1 nonsynonymous SNV exon9 c.C1214T p.T405I EQKLQQTMRKAETLPEVEAELAQRI EQKLQQTMRKAEILPEVEAELAQRI 4.0 5.0 - - 4155_12:81768465-81768465 G>A_EQKLQQTMRKAEILPEVEAELAQRI 0.0 21:37610932-37610932 G>A 1.0 4234 NSCLC - - - - DOPEY2 uc002yvg.3,p.V937M|NM_005128,p.V937M|ENST00000399151,p.V937M retained_intron, protein_coding, processed_transcript uc002yvg.3 nonsynonymous SNV exon17 c.G2809A p.V937M KGTRLEALFRFSVIWHLTREIQGSR KGTRLEALFRFSMIWHLTREIQGSR 7.0 7.0 CD8 - 4234_21:37610932-37610932 G>A_KGTRLEALFRFSMIWHLTREIQGSR 2.0 3:140785271-140785271 C>T 0.0 4346 COLORECTAL - - - - SPSB4 uc003ett.3,p.R109C|uc010hum.3,p.R109C|ENST00000310546,p.R109C|NM_080862,p.R109C protein_coding, processed_transcript, nonsense_mediated_decay uc010hum.3 nonsynonymous SNV exon1 c.C325T p.R109C LHAWQINWPARQRGTHAVVGVATAR LHAWQINWPARQCGTHAVVGVATAR 1.0 6.0 - - 4346_3:140785271-140785271 C>T_LHAWQINWPARQCGTHAVVGVATAR 0.0 7:44714065-44714065 G>T 1.0 4126 NSCLC - - - - OGDH uc011kby.2,p.G132C|ENST00000447398,p.G293C|uc011kbz.2,p.G77C|NM_002541,p.G282C|NM_001165036,p.G278C|NM_001003941,p.G282C|ENST00000444676,p.G297C|uc011kbx.2,p.G278C|ENST00000439616,p.G132C|ENST00000222673,p.G282C|ENST00000543843,p.G233C|uc003tln.3,p.G282C|uc003tlm.3,p.G282C|ENST00000449767,p.G278C|ENST00000443864,p.G282C|uc003tlp.3,p.G293C|uc003tlo.1,p.G115C retained_intron, protein_coding, processed_transcript uc011kbz.2 nonsynonymous SNV exon5 c.G229T p.G77C RKWSSEKRFGLEGCEVLIPALKTII RKWSSEKRFGLECCEVLIPALKTII 9.0 8.0 - - 4126_7:44714065-44714065 G>T_RKWSSEKRFGLECCEVLIPALKTII 0.0 4:77976352-77976352 A>C 1.0 4037 NSCLC - - - - CCNI uc003hkm.3,p.L214R|NM_006835,p.L214R|ENST00000237654,p.L214R|uc011ccb.2,p.L200R|ENST00000537948,p.L200R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011ccb.2 nonsynonymous SNV exon5 c.T599G p.L200R LALAMVSLEMEKLIPDWLSLTIELL LALAMVSLEMEKRIPDWLSLTIELL 10.0 7.0 - - 4037_4:77976352-77976352 A>C_LALAMVSLEMEKRIPDWLSLTIELL 0.0 12:129190448-129190448 G>A 0.0 4301 MELANOMA - - - - TMEM132C ENST00000315208,p.E595K|ENST00000537538,p.E364K|ENST00000435159,p.E979K|uc021rgn.1,p.E979K|NM_001136103,p.E979K protein_coding uc021rgn.1 nonsynonymous SNV exon9 c.G2935A p.E979K HSHDWVWLGNEAELLESMGDAPPPQ HSHDWVWLGNEAKLLESMGDAPPPQ 5.0 6.0 - - 4301_12:129190448-129190448 G>A_HSHDWVWLGNEAKLLESMGDAPPPQ 0.0 19:49489259-49489259 C>T 1.0 4287 COLORECTAL - - - - GYS1 NM_002103,p.V176I|ENST00000541188,p.V96I|ENST00000323798,p.V176I|ENST00000540532,p.V96I|uc002plp.3,p.V176I|uc010xzz.2,p.V96I retained_intron, protein_coding, processed_transcript uc010xzz.2 nonsynonymous SNV exon3 c.G286A p.V96I EFLAQSEEKPHVVAHFHEWLAGVGL EFLAQSEEKPHVIAHFHEWLAGVGL 8.0 10.0 - - 4287_19:49489259-49489259 C>T_EFLAQSEEKPHVIAHFHEWLAGVGL 0.0 19:16677428-16677428 T>G 1.0 4071 COLORECTAL - - - - SLC35E1 ENST00000595753,p.N224T|NM_024881,p.N224T|ENST00000436553,p.N158T|uc002nem.1,p.N224T|ENST00000431408,p.N68T|uc010xph.2,p.N224T protein_coding, processed_transcript,retained_intron, nonsense_mediated_decay uc010xph.2 nonsynonymous SNV exon4 c.A671C p.N224T LRDSRIHHLRLLNILGCHAVFFMIP LRDSRIHHLRLLTILGCHAVFFMIP 9.0 4.0 - - 4071_19:16677428-16677428 T>G_LRDSRIHHLRLLTILGCHAVFFMIP 0.0 19:33904513-33904513 C>A 1.0 4129 NSCLC - - - - PEPD uc010xrr.2,p.M195I|ENST00000397032,p.M195I|NM_001166056,p.M195I retained_intron, protein_coding, lincRNA uc010xrr.2 nonsynonymous SNV exon8 c.G585T p.M195I CLFEHYCYSRGGMRHSSYTCICGSG CLFEHYCYSRGGIRHSSYTCICGSG 10.0 3.0 - - 4129_19:33904513-33904513 C>A_CLFEHYCYSRGGIRHSSYTCICGSG 0.0 1:115256530-115256530 G>T 1.0 3795 MELANOMA - - ID=COSM580;OCCURENCE=1(prostate),79(large_intestine),1(biliary_tract),2(urinary_tract),2(eye),1(kidney),2(liver),2(pancreas),2(breast),437(skin),2(endometrium),1(ovary),15(soft_tissue),5(autonomic_ganglia),2(cervix),71(haematopoietic_and_lymphoid_tissue),1(meninges),56(thyroid),18(lung),29(NS),4(bone),4(central_nervous_system),1(stomach) 1 NRAS uc009wgu.3,p.Q61K|ENST00000369535,p.Q61K|NM_002524,p.Q61K protein_coding uc009wgu.3 nonsynonymous SNV exon3 c.C181A p.Q61K ETCLLDILDTAGQEEYSAMRDQYMR ETCLLDILDTAGKEEYSAMRDQYMR 9.0 8.0 CD8 - 3795_1:115256530-115256530 G>T_ETCLLDILDTAGKEEYSAMRDQYMR 1.0 19:53270609-53270609 G>A 1.0 4301 MELANOMA - - - - ZNF600 uc021uyz.1,p.H134Y|ENST00000338230,p.H134Y|uc002qab.4,p.H134Y|NM_198457,p.H134Y protein_coding, processed_transcript uc021uyz.1 nonsynonymous SNV exon1 c.C400T p.H134Y STSQRISPRPQIHISNNYGNNSPNS STSQRISPRPQIYISNNYGNNSPNS 8.0 3.0 - - 4301_19:53270609-53270609 G>A_STSQRISPRPQIYISNNYGNNSPNS 0.0 X:77912719-77912719 G>A 1.0 3713 MELANOMA - - - - ZCCHC5 NM_152694,p.P400L|uc022bzi.1,p.P400L|uc004edc.1,p.P400L|ENST00000321110,p.P400L protein_coding uc022bzi.1 nonsynonymous SNV exon1 c.C1199T p.P400L QCISLEEKPDPNPLGKSSSAEGDGP QCISLEEKPDPNLLGKSSSAEGDGP 1.0 5.0 - - 3713_X:77912719-77912719 G>A_QCISLEEKPDPNLLGKSSSAEGDGP 0.0 1:220826691-220826691 G>A 1.0 4037 NSCLC - - - - MARK1 uc001hmn.4,p.R662H|ENST00000366917,p.R662H|NM_001286124,p.R663H|NM_018650,p.R662H|uc009xdw.3,p.R663H protein_coding, processed_transcript uc009xdw.3 nonsynonymous SNV exon16 c.G1988A p.R663H TGIISKITSKFVRRDPSEGEASGRT TGIISKITSKFVHRDPSEGEASGRT 6.0 10.0 - - 4037_1:220826691-220826691 G>A_TGIISKITSKFVHRDPSEGEASGRT 0.0 10:103649225-103649225 G>A 1.0 3879 MELANOMA - - - - C10orf76 ENST00000370033,p.P602S|uc009xwy.1,p.P602S|NM_024541,p.P602S protein_coding, processed_transcript uc009xwy.1 nonsynonymous SNV exon24 c.C1804T p.P602S LVNIRAIINHFNPKIESYAAVNHIS LVNIRAIINHFNSKIESYAAVNHIS 5.0 7.0 - - 3879_10:103649225-103649225 G>A_LVNIRAIINHFNSKIESYAAVNHIS 0.0 8:39775625-39775625 G>A 1.0 3466 MELANOMA - - - - IDO1 ENST00000519154,p.D68N|ENST00000518237,p.D68N|NM_002164,p.D68N|uc003xnm.3,p.D68N|ENST00000253513,p.D68N|ENST00000522495,p.D68N retained_intron, protein_coding, nonsense_mediated_decay uc003xnm.3 nonsynonymous SNV exon3 c.G202A p.D68N RERVEKLNMLSIDHLTDHKSQRLAR RERVEKLNMLSINHLTDHKSQRLAR 9.0 9.0 - - 3466_8:39775625-39775625 G>A_RERVEKLNMLSINHLTDHKSQRLAR 0.0 21:22658702-22658702 C>G 0.0 3775 CERVICAL - - - - NCAM2 ENST00000400546,p.H151D|uc002yld.2,p.H151D|uc011acc.2,p.H176D|NM_004540,p.H151D|ENST00000535285,p.H176D protein_coding, processed_transcript uc011acc.2 nonsynonymous SNV exon5 c.C526G p.H176D SSSPAPAVSWLYHNEEVTTISDNRF SSSPAPAVSWLYDNEEVTTISDNRF 4.0 6.0 - - 3775_21:22658702-22658702 C>G_SSSPAPAVSWLYDNEEVTTISDNRF 0.0 X:37893258-37893258 T>C 0.0 4160 COLORECTAL - - - - SYTL5 ENST00000357972,p.I39T|NM_138780,p.I39T|uc004ddx.3,p.I39T|NM_001163334,p.I39T|uc004ddu.3,p.I39T|ENST00000456733,p.I39T|NM_001163335,p.I39T|ENST00000297875,p.I39T|uc004ddv.3,p.I39T protein_coding uc004ddx.3 nonsynonymous SNV exon1 c.T116C p.I39T RDEYLKKVEDKRIRKLKNELLEAKR RDEYLKKVEDKRTRKLKNELLEAKR 5.0 2.0 - - 4160_X:37893258-37893258 T>C_RDEYLKKVEDKRTRKLKNELLEAKR 0.0 11:66191115-66191115 C>A 0.0 4259 COLORECTAL - - - - NPAS4 uc001ohx.1,p.A292E|ENST00000311034,p.A292E|uc010rpc.1,p.A82E|NM_178864,p.A292E retained_intron, protein_coding, nonsense_mediated_decay uc010rpc.1 nonsynonymous SNV exon5 c.C245A p.A82E MVVRLQAKTGGWAWIYCLLYSEGPE MVVRLQAKTGGWEWIYCLLYSEGPE 2.0 5.0 - - 4259_11:66191115-66191115 C>A_MVVRLQAKTGGWEWIYCLLYSEGPE 0.0 9:20764884-20764884 A>G 1.0 3713 MELANOMA - - - - FOCAD NM_017794,p.I171V|ENST00000338382,p.I171V|uc003zog.1,p.I171V|ENST00000380249,p.I171V protein_coding uc003zog.1 nonsynonymous SNV exon9 c.A511G p.I171V FQQCPERLEVSCIQIMAPFLWYLYC FQQCPERLEVSCVQIMAPFLWYLYC 5.0 8.0 - - 3713_9:20764884-20764884 A>G_FQQCPERLEVSCVQIMAPFLWYLYC 0.0 13:48654103-48654103 G>A 1.0 3784 MELANOMA - - - - MED4 uc010tgf.2,p.R127W|NM_014166,p.R173W|ENST00000417167,p.R151W|ENST00000258648,p.R173W|NM_001270629,p.R127W|uc001vby.2,p.R173W|ENST00000378586,p.R127W protein_coding, processed_transcript uc010tgf.2 nonsynonymous SNV exon6 c.C379T p.R127W VCAPLTWVPGDPRRPYPTDLEMRSG VCAPLTWVPGDPWRPYPTDLEMRSG 9.0 9.0 - - 3784_13:48654103-48654103 G>A_VCAPLTWVPGDPWRPYPTDLEMRSG 0.0 17:7578406-7578406 C>T 1.0 4252 COLORECTAL - - ID=COSM3355994,COSM1640851,COSM99024,COSM99023,COSM10648,COSM99914,COSM99022;OCCURENCE=4(skin),97(breast),9(biliary_tract),321(large_intestine),4(prostate),4(kidney),9(liver),22(pancreas),28(urinary_tract),1(adrenal_gland),65(ovary),1(soft_tissue),9(endometrium),2(salivary_gland),1(penis),18(lung),2(thyroid),35(haematopoietic_and_lymphoid_tissue),4(cervix),62(stomach),70(central_nervous_system),80(oesophagus),2(vulva),3(bone),51(upper_aerodigestive_tract) 1 TP53 NM_001126113,p.R175H|uc010cnf.2,p.R16H|NM_001276699,p.R16H|ENST00000420246,p.R175H|uc002gin.3,p.R82H|NM_001126112,p.R175H|ENST00000359597,p.R175H|NM_001126114,p.R175H|NM_001126116,p.R43H|uc002gig.1,p.R175H|NM_001126118,p.R136H|uc002gij.3,p.R136H|NM_001276760,p.R136H|uc002gih.3,p.R175H|uc002gio.3,p.R43H|uc031qyq.1,p.R136H|uc002gii.2,p.R16H|NM_001276698,p.R16H|NM_001126115,p.R43H|NM_001276761,p.R136H|NM_000546,p.R175H|ENST00000455263,p.R175H|ENST00000269305,p.R175H|uc010cng.2,p.R16H|ENST00000509690,p.R43H|NM_001276696,p.R136H|ENST00000445888,p.R175H|ENST00000413465,p.R175H|ENST00000514944,p.R82H|NM_001126117,p.R43H|uc010vug.3,p.R136H|NM_001276697,p.R16H|NM_001276695,p.R136H retained_intron, protein_coding, processed_transcript uc031qyq.1 nonsynonymous SNV exon4 c.G407A p.R136H YKQSQHMTEVVRRCPHHERCSDSDG YKQSQHMTEVVRHCPHHERCSDSDG 10.0 10.0 - - 4252_17:7578406-7578406 C>T_YKQSQHMTEVVRHCPHHERCSDSDG 0.0 16:2816138-2816138 C>T 1.0 4189 MELANOMA - - - - SRRM2 uc002crk.3,p.P1870L|uc010bsu.1,p.P1774L|uc002crj.1,p.P1774L|uc002crl.1,p.P1870L|ENST00000301740,p.P1870L|NM_016333,p.P1870L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010bsu.1 nonsynonymous SNV exon10 c.C5321T p.P1774L PAPWKRSRSRASPATHRRSRSRTPL PAPWKRSRSRASLATHRRSRSRTPL 10.0 6.0 - - 4189_16:2816138-2816138 C>T_PAPWKRSRSRASLATHRRSRSRTPL 0.0 1:108291680-108291680 A>C 0.0 4284 COLORECTAL - - - - VAV3 uc001dvk.1,p.L471R|ENST00000371846,p.L406R|uc010ouw.1,p.L471R|ENST00000527011,p.L471R|uc001dvl.1,p.L295R|NM_006113,p.L471R|ENST00000370056,p.L471R|uc010oux.1,p.L471R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010oux.1 nonsynonymous SNV exon15 c.T1412G p.L471R DKENKKWSYGFYLIHTQGQNGLEFY DKENKKWSYGFYRIHTQGQNGLEFY 10.0 3.0 - - 4284_1:108291680-108291680 A>C_DKENKKWSYGFYRIHTQGQNGLEFY 0.0 7:139299046-139299046 G>A 1.0 4000 MELANOMA - - - - HIPK2 NM_022740,p.P659L|NM_001113239,p.P632L|ENST00000342645,p.P659L|ENST00000428878,p.P632L|ENST00000406875,p.P659L|uc003vvd.4,p.P632L|uc003vvf.4,p.P659L protein_coding uc003vvf.4 nonsynonymous SNV exon8 c.C1976T p.P659L RPDPFQQALIVCPPGFQGLQASPSK RPDPFQQALIVCLPGFQGLQASPSK 10.0 5.0 - - 4000_7:139299046-139299046 G>A_RPDPFQQALIVCLPGFQGLQASPSK 0.0 13:52952490-52952490 C>T 0.0 4189 MELANOMA - - - - THSD1 NM_018676,p.E539K|uc001vgo.3,p.E539K|uc001vgp.3,p.E486K|ENST00000258613,p.E539K|NM_199263,p.E486K|ENST00000544466,p.E160K|uc010tgz.2,p.E160K|ENST00000349258,p.E486K protein_coding uc010tgz.2 nonsynonymous SNV exon3 c.G478A p.E160K LFSYRLAQQQLKEMKKKGLTETTKV LFSYRLAQQQLKKMKKKGLTETTKV 4.0 2.0 - - 4189_13:52952490-52952490 C>T_LFSYRLAQQQLKKMKKKGLTETTKV 0.0 17:47874240-47874240 C>T 0.0 4238 COLORECTAL - - - 2 KAT7 NM_001199155,p.R98C|uc010wmb.2,p.R98C|ENST00000259021,p.R98C|uc002ipl.2,p.R98C|NM_001199157,p.R98C|ENST00000509773,p.R98C|NM_007067,p.R98C|uc002ipm.3,p.R98C|ENST00000424009,p.R98C retained_intron, protein_coding, processed_transcript uc010wmb.2 nonsynonymous SNV exon3 c.C292T p.R98C PVTPKKYPLRQTRSSGSETEQVVDF PVTPKKYPLRQTCSSGSETEQVVDF 6.0 5.0 - - 4238_17:47874240-47874240 C>T_PVTPKKYPLRQTCSSGSETEQVVDF 0.0 2:206610591-206610591 A>C 0.0 4235 COLORECTAL - - - - NRP2 ENST00000412873,p.E588A|uc002vax.3,p.E588A|ENST00000357785,p.E588A|ENST00000357118,p.E588A|ENST00000540178,p.E588A|uc002vaw.3,p.E588A|NM_201267,p.E588A|NM_201279,p.E588A|NM_201266,p.E588A|ENST00000540841,p.E588A|ENST00000360409,p.E588A|uc002vay.3,p.E588A|uc002vav.3,p.E588A|NM_018534,p.E588A|NM_003872,p.E588A|uc002vau.3,p.E588A|ENST00000272849,p.E588A retained_intron, protein_coding, processed_transcript uc002vay.3 nonsynonymous SNV exon10 c.A1763C p.E588A ERWSPAGIGMRLEVLGCDWTDSKPT ERWSPAGIGMRLAVLGCDWTDSKPT 8.0 1.0 - - 4235_2:206610591-206610591 A>C_ERWSPAGIGMRLAVLGCDWTDSKPT 0.0 3:196842799-196842799 G>A 1.0 3998 MELANOMA - - - - DLG1 uc003fxo.4,p.S514L|NM_001098424,p.S514L|uc010ial.3,p.S514L|ENST00000450955,p.S481L|ENST00000346964,p.S514L|uc011bue.2,p.S481L|NM_001290983,p.S514L|ENST00000422288,p.S463L|uc011bub.2,p.S398L|ENST00000419354,p.S514L|NM_001204387,p.S398L|NM_004087,p.S514L|ENST00000357674,p.S481L|ENST00000392381,p.S514L|uc011bud.2,p.S197L|NM_001204386,p.S481L|ENST00000452595,p.S398L|uc010iam.1,p.S481L|ENST00000392382,p.S481L|ENST00000314062,p.S463L|NM_001204388,p.S398L|uc003fxn.4,p.S514L|uc011buc.2,p.S398L|ENST00000443183,p.S398L|ENST00000448528,p.S514L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bue.2 nonsynonymous SNV exon13 c.C1442T p.S481L LSGELRKGDRIISVNSVDLRAASHE LSGELRKGDRIILVNSVDLRAASHE 10.0 8.0 - - 3998_3:196842799-196842799 G>A_LSGELRKGDRIILVNSVDLRAASHE 0.0 8:30999034-30999034 C>T 0.0 4155 MELANOMA - - - 1 WRN ENST00000298139,p.S1019F|uc010lvk.3,p.S486F|uc003xio.4,p.S1019F|NM_000553,p.S1019F retained_intron, protein_coding uc010lvk.3 nonsynonymous SNV exon13 c.C1457T p.S486F GKDQTESWWKAFSRQLITEGFLVEV GKDQTESWWKAFFRQLITEGFLVEV 4.0 1.0 - - 4155_8:30999034-30999034 C>T_GKDQTESWWKAFFRQLITEGFLVEV 0.0 6:52303267-52303267 C>T 1.0 4129 NSCLC 0.0005 - ID=COSM191268;OCCURENCE=1(large_intestine) - EFHC1 ENST00000433625,p.R60C|NM_001172420,p.R132C|uc003pap.4,p.R151C|ENST00000538167,p.R132C|ENST00000480623,p.R151C|NM_018100,p.R151C|ENST00000371068,p.R151C|uc011dww.2,p.R132C|uc011dwv.1,p.R60C protein_coding, processed_transcript, nonsense_mediated_decay uc011dww.2 nonsynonymous SNV exon4 c.C394T p.R132C ENSGILQGKLIKRQRLAKNDRGDHY ENSGILQGKLIKCQRLAKNDRGDHY 6.0 1.0 - - 4129_6:52303267-52303267 C>T_ENSGILQGKLIKCQRLAKNDRGDHY 0.0 1:111060224-111060224 C>T 0.0 4346 COLORECTAL - - - - KCNA10 ENST00000369771,p.A396T|uc001dzt.1,p.A396T|NM_005549,p.A396T protein_coding uc001dzt.1 nonsynonymous SNV exon1 c.G1186A p.A396T IGVILFSSAVYFAEVDEPESHFSSI IGVILFSSAVYFTEVDEPESHFSSI 1.0 3.0 - - 4346_1:111060224-111060224 C>T_IGVILFSSAVYFTEVDEPESHFSSI 0.0 13:23912473-23912473 C>A 1.0 4287 COLORECTAL - - - - SACS NM_014363,p.A1848S|ENST00000382298,p.A1848S|ENST00000382292,p.A1848S|uc001uoo.3,p.A1701S|uc001uon.3,p.A1848S|ENST00000402364,p.A1098S|NM_001278055,p.A1701S protein_coding, processed_transcript uc001uoo.3 nonsynonymous SNV exon8 c.G5101T p.A1701S ESGRRLGLVPCGAVGVQLSEIQDQK ESGRRLGLVPCGSVGVQLSEIQDQK 5.0 8.0 - - 4287_13:23912473-23912473 C>A_ESGRRLGLVPCGSVGVQLSEIQDQK 0.0 8:89054002-89054002 C>T 1.0 3466 MELANOMA - - - - MMP16 ENST00000286614,p.G504E|uc003yeb.4,p.G504E|NM_005941,p.G504E retained_intron, protein_coding, processed_transcript uc003yeb.4 nonsynonymous SNV exon10 c.G1511A p.G504E VHKENGFTYFYKGKEYWKFNNQILK VHKENGFTYFYKEKEYWKFNNQILK 8.0 7.0 - - 3466_8:89054002-89054002 C>T_VHKENGFTYFYKEKEYWKFNNQILK 0.0 8:128750555-128750555 A>G 1.0 4246 COLORECTAL - - - 1 MYC ENST00000520751,p.T5A protein_coding ENST00000520751 nonsynonymous SNV exon2 c.A13G p.T5A MTSTTTRCSRISTATRR MTSTATRCSRISTATRR 10.0 3.0 - - 4246_8:128750555-128750555 A>G_MTSTATRCSRISTATRR 0.0 2:3391705-3391705 C>T 1.0 2359 MELANOMA - - - - TRAPPC12 ENST00000324266,p.P104L|uc002qxm.1,p.P104L|NM_016030,p.P104L|uc010ewm.1,p.P104L|ENST00000382110,p.P104L|uc002qxn.1,p.P104L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ewm.1 nonsynonymous SNV exon1 c.C311T p.P104L AEPGGEGDPGPEPAGTPSPSGEADG AEPGGEGDPGPELAGTPSPSGEADG 7.0 9.0 - - 2359_2:3391705-3391705 C>T_AEPGGEGDPGPELAGTPSPSGEADG 0.0 2:18112823-18112823 C>T 1.0 3466 MELANOMA - - - - KCNS3 ENST00000403915,p.S183F|NM_001282428,p.S183F|uc002rcv.3,p.S183F|NM_002252,p.S183F|ENST00000304101,p.S183F|uc021veh.1,p.S183F|uc002rcw.3,p.S183F protein_coding, processed_transcript uc021veh.1 nonsynonymous SNV exon1 c.C548T p.S183F IWIRMENPAYCLSAKLIAISSLSVV IWIRMENPAYCLFAKLIAISSLSVV 10.0 7.0 - - 3466_2:18112823-18112823 C>T_IWIRMENPAYCLFAKLIAISSLSVV 0.0 4:81122642-81122642 C>A 1.0 4246 COLORECTAL - - - - PRDM8 NM_001099403,p.L140I|ENST00000504452,p.L140I|uc010ijo.3,p.L140I|ENST00000339711,p.L140I|ENST00000515013,p.L140I|NM_020226,p.L140I|ENST00000415738,p.L140I|uc003hmb.4,p.L140I|uc003hmc.4,p.L140I protein_coding, processed_transcript uc010ijo.3 nonsynonymous SNV exon7 c.C418A p.L140I VWYGKELTELLLLCPSRSHNKMNGS VWYGKELTELLLICPSRSHNKMNGS 2.0 8.0 - - 4246_4:81122642-81122642 C>A_VWYGKELTELLLICPSRSHNKMNGS 0.0 16:89702968-89702968 A>C 1.0 4252 COLORECTAL - - - - DPEP1 ENST00000261615,p.K133T|uc002fns.4,p.K133T|NM_001128141,p.K133T|NM_004413,p.K133T|ENST00000421184,p.K133T|uc010cin.3,p.K133T|uc002fnr.4,p.K133T|ENST00000393092,p.K133T retained_intron, protein_coding uc010cin.3 nonsynonymous SNV exon5 c.A398C p.K133T SSAGIRQAFREGKVASLIGVEGGHS SSAGIRQAFREGTVASLIGVEGGHS 10.0 5.0 - - 4252_16:89702968-89702968 A>C_SSAGIRQAFREGTVASLIGVEGGHS 0.0 7:40535981-40535981 C>T 0.0 4281 COLORECTAL - - - - SUGCT NM_001193311,p.P369L|NM_024728,p.P332L|ENST00000309930,p.P369L|uc022acd.1,p.P369L protein_coding, processed_transcript, nonsense_mediated_decay uc022acd.1 nonsynonymous SNV exon12 c.C1106T p.P369L GPINNMKNVFAEPQNAVSGFQSLLH GPINNMKNVFAELQNAVSGFQSLLH 5.0 7.0 - - 4281_7:40535981-40535981 C>T_GPINNMKNVFAELQNAVSGFQSLLH 0.0 12:129558455-129558455 G>T 0.0 4149 OVARIAN - - - - TMEM132D uc009zyl.1,p.H1089N|ENST00000389441,p.H627N|ENST00000422113,p.H1089N|uc001uia.2,p.H627N|NM_133448,p.H1089N protein_coding uc009zyl.1 nonsynonymous SNV exon9 c.C3265A p.H1089N CQDLDPGDCKELHNYMERLHENV CQDLDPGDCKELNNYMERLHENV 1.0 6.0 - - 4149_12:129558455-129558455 G>T_CQDLDPGDCKELNNYMERLHENV 0.0 17:2227099-2227099 T>G 1.0 4287 COLORECTAL - - - - SRR uc002fue.1,p.L319V|NM_021947,p.L319V|uc002fui.1,p.L170V|ENST00000344595,p.L319V protein_coding, processed_transcript uc002fui.1 nonsynonymous SNV exon6 c.T508G p.L170V NICIVLSGGNVDLTSSITWVKQAER NICIVLSGGNVDVTSSITWVKQAER 7.0 9.0 - - 4287_17:2227099-2227099 T>G_NICIVLSGGNVDVTSSITWVKQAER 0.0 X:18923977-18923977 C>A 1.0 4258 ENDOMETRIAL - - - - PHKA2 NM_000292,p.G936V|uc004cyv.4,p.G936V|ENST00000379942,p.G936V protein_coding, processed_transcript uc004cyv.4 nonsynonymous SNV exon26 c.G2807T p.G936V MATELARSLNCSGEEASESLMNLSP MATELARSLNCSVEEASESLMNLSP 8.0 10.0 - - 4258_X:18923977-18923977 C>A_MATELARSLNCSVEEASESLMNLSP 0.0 12:63544475-63544475 C>G 0.0 4258 ENDOMETRIAL - - - - AVPR1A NM_000706,p.E48Q|uc001sro.2,p.E48Q|ENST00000299178,p.E48Q protein_coding uc001sro.2 nonsynonymous SNV exon1 c.G142C p.E48Q GEGNGPPRDVRNEELAKLEIAVLAV GEGNGPPRDVRNQELAKLEIAVLAV 2.0 9.0 - - 4258_12:63544475-63544475 C>G_GEGNGPPRDVRNQELAKLEIAVLAV 0.0 5:33937381-33937381 C>T 0.0 4158 COLORECTAL - - ID=COSM1437092;OCCURENCE=1(large_intestine) - RXFP3 NM_016568,p.T179M|uc003jic.2,p.T179M|ENST00000330120,p.T179M protein_coding uc003jic.2 nonsynonymous SNV exon1 c.C536T p.T179M YASVFFLTAMSVTRYHSVASALKSH YASVFFLTAMSVMRYHSVASALKSH 1.0 5.0 - - 4158_5:33937381-33937381 C>T_YASVFFLTAMSVMRYHSVASALKSH 0.0 15:34634224-34634224 G>A 1.0 3998 MELANOMA - - - - NOP10 uc001zie.1,p.T47I|ENST00000328848,p.T47I|NM_018648,p.T47I protein_coding uc001zie.1 nonsynonymous SNV exon2 c.C140T p.T47I FSPDDKYSRHRITIKKRFKVLMTQQ FSPDDKYSRHRIIIKKRFKVLMTQQ 10.0 7.0 - - 3998_15:34634224-34634224 G>A_FSPDDKYSRHRIIIKKRFKVLMTQQ 0.0 6:160671658-160671658 T>C 0.0 2591 MELANOMA - - - - SLC22A2 ENST00000366952,p.T178A|ENST00000366953,p.T199A|uc003qtf.3,p.T199A|NM_003058,p.T199A|uc003qth.2,p.T199A protein_coding, processed_transcript uc003qth.2 nonsynonymous SNV exon3 c.A595G p.T199A NAAAGVLMAISPTYTWMLIFRLIQG NAAAGVLMAISPAYTWMLIFRLIQG 1.0 9.0 - - 2591_6:160671658-160671658 T>C_NAAAGVLMAISPAYTWMLIFRLIQG 0.0 8:3474275-3474275 G>A 0.0 4160 COLORECTAL - - - - CSMD1 ENST00000520002,p.P352S|ENST00000400186,p.P352S|ENST00000539096,p.P352S|ENST00000602723,p.P352S|uc022aqr.1,p.P352S|NM_033225,p.P352S|ENST00000542608,p.P352S|ENST00000602557,p.P352S|ENST00000537824,p.P352S retained_intron, protein_coding, processed_transcript uc022aqr.1 nonsynonymous SNV exon8 c.C1054T p.P352S GGVALVSDMCPDPGIPENGRRAGSD GGVALVSDMCPDSGIPENGRRAGSD 2.0 9.0 - - 4160_8:3474275-3474275 G>A_GGVALVSDMCPDSGIPENGRRAGSD 0.0 1:169394098-169394098 A>T 1.0 3879 MELANOMA - - - - CCDC181 uc009wvq.1,p.L23Q|uc001gfz.1,p.L23Q|NM_021179,p.L23Q|NM_001300969,p.L23Q|ENST00000456107,p.L23Q|uc001gga.1,p.L23Q|ENST00000367806,p.L23Q|ENST00000367805,p.L23Q|ENST00000545005,p.L23Q|uc001ggc.1,p.L23Q|NM_001300968,p.L23Q|uc001ggb.3,p.L23Q protein_coding, processed_transcript uc009wvq.1 nonsynonymous SNV exon3 c.T68A p.L23Q KSEEYEDDFEKDLEWLINENEKSDA KSEEYEDDFEKDQEWLINENEKSDA 6.0 1.0 - - 3879_1:169394098-169394098 A>T_KSEEYEDDFEKDQEWLINENEKSDA 0.0 7:100174618-100174618 T>C 1.0 4234 NSCLC - - - - LRCH4 ENST00000310300,p.K459E|NM_001289934,p.K459E|NM_002319,p.K459E|uc003uvj.3,p.K459E retained_intron, protein_coding uc003uvj.3 nonsynonymous SNV exon13 c.A1375G p.K459E AVSTQAMHNGSPKSSASQAGAAAGQ AVSTQAMHNGSPESSASQAGAAAGQ 9.0 4.0 - - 4234_7:100174618-100174618 T>C_AVSTQAMHNGSPESSASQAGAAAGQ 0.0 6:146056349-146056349 C>T 0.0 3775 CERVICAL - - - - EPM2A uc010khr.3,p.E96K|ENST00000367519,p.E96K|NM_001018041,p.E96K|NM_005670,p.E96K|uc003qkv.3,p.E96K|uc003qkw.3,p.E96K protein_coding, processed_transcript uc010khr.3 nonsynonymous SNV exon1 c.G286A p.E96K FWYKFLKREPGGELSWEGNGPHHDR FWYKFLKREPGGKLSWEGNGPHHDR 4.0 6.0 - - 3775_6:146056349-146056349 C>T_FWYKFLKREPGGKLSWEGNGPHHDR 0.0 12:50357341-50357341 C>A 0.0 4287 COLORECTAL - - - - AQP5 ENST00000293599,p.L144I|uc001rvo.3,p.L144I|NM_001651,p.L144I retained_intron, protein_coding uc001rvo.3 nonsynonymous SNV exon2 c.C430A p.L144I MVVELILTFQLALCIFASTDSRRTS MVVELILTFQLAICIFASTDSRRTS 3.0 8.0 - - 4287_12:50357341-50357341 C>A_MVVELILTFQLAICIFASTDSRRTS 0.0 4:151504807-151504807 A>C 0.0 3903 MELANOMA - - - - MAB21L2 ENST00000317605,p.N209T|uc003ilw.3,p.N209T|NM_006439,p.N209T protein_coding uc003ilw.3 nonsynonymous SNV exon1 c.A626C p.N209T PNRVAEVKAEGFNLLSKECYSLTGK PNRVAEVKAEGFTLLSKECYSLTGK 2.0 1.0 - - 3903_4:151504807-151504807 A>C_PNRVAEVKAEGFTLLSKECYSLTGK 0.0 14:73577758-73577758 C>T 1.0 3713 MELANOMA - - - - RBM25 NM_021239,p.P638S|uc001xno.3,p.P638S|ENST00000261973,p.P638S|uc010ttu.2,p.P638S|ENST00000527432,p.P638S|uc001xnp.3,p.P433S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ttu.2 nonsynonymous SNV exon16 c.C1912T p.P638S VSSASGNATPNTPGDESPCGIIIPH VSSASGNATPNTSGDESPCGIIIPH 10.0 2.0 - - 3713_14:73577758-73577758 C>T_VSSASGNATPNTSGDESPCGIIIPH 0.0 1:223285703-223285703 C>T 0.0 4158 COLORECTAL - - - - TLR5 uc001hnv.2,p.R224K|ENST00000540964,p.R224K|ENST00000342210,p.R224K|uc001hnw.2,p.R224K|uc021pjl.1,p.R224K|NM_003268,p.R224K|ENST00000366881,p.R224K protein_coding, processed_transcript uc021pjl.1 nonsynonymous SNV exon1 c.G671A p.R224K VSVDWGKCMNPFRNMVLEILDVSGN VSVDWGKCMNPFKNMVLEILDVSGN 5.0 10.0 - - 4158_1:223285703-223285703 C>T_VSVDWGKCMNPFKNMVLEILDVSGN 0.0 12:112326792-112326792 C>T 1.0 3879 MELANOMA - - - - MAPKAPK5 NM_003668,p.L402F|ENST00000550735,p.L402F|uc001tsz.4,p.L402F retained_intron, protein_coding, processed_transcript uc001tsz.4 nonsynonymous SNV exon12 c.C1204T p.L402F LEKLRDVIAQCILPQAGENEDEKLN LEKLRDVIAQCIFPQAGENEDEKLN 9.0 9.0 - - 3879_12:112326792-112326792 C>T_LEKLRDVIAQCIFPQAGENEDEKLN 0.0 1:228505294-228505294 G>A 0.0 4301 MELANOMA - - - - OBSCN ENST00000366707,p.G2198E|uc001hsn.4,p.G4564E|uc001hsq.2,p.G5521E|uc009xez.2,p.G4564E|ENST00000570156,p.G5521E|ENST00000366709,p.G1683E|ENST00000284548,p.G4564E|NM_001271223,p.G5521E|NM_052843,p.G4564E|NM_001098623,p.G4564E|ENST00000422127,p.G4564E retained_intron, protein_coding, processed_transcript uc009xez.2 nonsynonymous SNV exon52 c.G13691A p.G4564E GGLCGYRVEVKEGATGQWRLCHELV GGLCGYRVEVKEEATGQWRLCHELV 7.0 10.0 - - 4301_1:228505294-228505294 G>A_GGLCGYRVEVKEEATGQWRLCHELV 0.0 11:67186691-67186691 G>A 1.0 4266 COLORECTAL - - - - CARNS1 ENST00000423745,p.E154K|uc010rpr.2,p.E277K|ENST00000531040,p.E277K|ENST00000445895,p.E277K|uc009yrp.3,p.E154K|NM_020811,p.E154K|NM_001166222,p.E277K|ENST00000307823,p.E154K|uc001olc.4,p.E293K retained_intron, protein_coding, processed_transcript uc010rpr.2 nonsynonymous SNV exon5 c.G829A p.E277K LVKEEVEAFLRSEALGDILQVAVKL LVKEEVEAFLRSKALGDILQVAVKL 3.0 9.0 - - 4266_11:67186691-67186691 G>A_LVKEEVEAFLRSKALGDILQVAVKL 0.0 7:120935629-120935629 C>T 0.0 3713 MELANOMA - - ID=COSM1548033;OCCURENCE=1(lung) - CPED1 NM_024913,p.H1002Y|uc003vjq.4,p.H1002Y|ENST00000310396,p.H1002Y protein_coding, processed_transcript, nonsense_mediated_decay uc003vjq.4 nonsynonymous SNV exon23 c.C3004T p.H1002Y QQGTVTNFRSPYHVRGPINQVCSEI QQGTVTNFRSPYYVRGPINQVCSEI 3.0 1.0 - - 3713_7:120935629-120935629 C>T_QQGTVTNFRSPYYVRGPINQVCSEI 0.0 16:67412546-67412546 G>A 1.0 3903 MELANOMA - - - - LRRC36 NM_001161575,p.E500K|ENST00000329956,p.E621K|ENST00000563189,p.E500K|NM_018296,p.E621K|uc002esx.3,p.E500K|ENST00000541146,p.E93K|uc002esv.3,p.E621K|uc010vjk.2,p.E396K|ENST00000435835,p.E396K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vjk.2 nonsynonymous SNV exon7 c.G1186A p.E396K LVRVLEENLILSEKIQQLEEGAAIS LVRVLEENLILSKKIQQLEEGAAIS 2.0 7.0 - - 3903_16:67412546-67412546 G>A_LVRVLEENLILSKKIQQLEEGAAIS 0.0 3:3076343-3076343 C>A 1.0 3795 MELANOMA - - - - CNTN4 uc003bpe.3,p.T276K|ENST00000358480,p.T385K|ENST00000397459,p.T276K|ENST00000448906,p.T276K|NM_175607,p.T604K|uc021wsg.1,p.T604K|ENST00000418658,p.T604K|ENST00000397461,p.T604K|ENST00000427331,p.T604K|NM_175613,p.T276K|uc003bpc.3,p.T604K|NM_001206956,p.T275K|uc003bpd.1,p.T604K|uc003bpf.3,p.T275K|NM_001206955,p.T604K|uc003bpb.1,p.T275K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021wsg.1 nonsynonymous SNV exon16 c.C1811A p.T604K IVRGPPGPPEAVTIDEITDTTAQLS IVRGPPGPPEAVKIDEITDTTAQLS 10.0 8.0 - - 3795_3:3076343-3076343 C>A_IVRGPPGPPEAVKIDEITDTTAQLS 0.0 11:5878401-5878401 G>A 0.0 4158 COLORECTAL - - - - OR52E8 NM_001005168,p.R178C|ENST00000537935,p.R178C|uc010qzr.2,p.R178C protein_coding uc010qzr.2 nonsynonymous SNV exon1 c.C532T p.R178C VFLLLRLPFCGHRIIPHTYCEHMGI VFLLLRLPFCGHCIIPHTYCEHMGI 1.0 6.0 - - 4158_11:5878401-5878401 G>A_VFLLLRLPFCGHCIIPHTYCEHMGI 0.0 12:8925971-8925971 A>G 0.0 4346 COLORECTAL - - - - RIMKLB NM_020734,p.Q251R|NM_001297776,p.Q251R|ENST00000538135,p.Q251R|ENST00000357529,p.Q251R|uc001qux.2,p.Q251R|uc001quw.2,p.Q251R|ENST00000544257,p.Q251R|uc010sgl.1,p.Q251R|ENST00000535829,p.Q251R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010sgl.1 nonsynonymous SNV exon6 c.A752G p.Q251R CSLSEQGKQLAIQVSNILGMDVCGI CSLSEQGKQLAIRVSNILGMDVCGI 6.0 8.0 - - 4346_12:8925971-8925971 A>G_CSLSEQGKQLAIRVSNILGMDVCGI 0.0 2:79350281-79350281 G>C 1.0 4234 NSCLC - - - - REG1A ENST00000233735,p.Q147H|uc010ysd.2,p.Q147H|uc002snz.3,p.Q147H|NM_002909,p.Q147H retained_intron, protein_coding uc010ysd.2 nonsynonymous SNV exon5 c.G441C p.Q147H GYCVSLTSSTGFQKWKDVPCEDKFS GYCVSLTSSTGFHKWKDVPCEDKFS 7.0 7.0 - - 4234_2:79350281-79350281 G>C_GYCVSLTSSTGFHKWKDVPCEDKFS 0.0 4:101953517-101953517 C>T 1.0 4000 MELANOMA - - - - PPP3CA NM_001130692,p.E374K|uc011cen.1,p.E416K|NM_000944,p.E416K|ENST00000507176,p.E318K|uc010ilk.2,p.E184K|ENST00000394853,p.E416K|ENST00000394854,p.E416K|uc003hvt.2,p.E403K|ENST00000512215,p.E184K|ENST00000523694,p.E349K|ENST00000323055,p.E374K|uc003hvu.2,p.E416K|NM_001130691,p.E416K|uc003hvs.2,p.E349K|uc010ilj.2,p.E374K protein_coding, processed_transcript, nonsense_mediated_decay uc011cen.1 nonsynonymous SNV exon12 c.G1246A p.E416K GKMARVFSVLREESESVLTLKGLTP GKMARVFSVLREKSESVLTLKGLTP 9.0 4.0 - - 4000_4:101953517-101953517 C>T_GKMARVFSVLREKSESVLTLKGLTP 0.0 7:100638484-100638484 A>T 0.0 4237 NSCLC - rs199794194 - - MUC12 NM_001164462,p.K1547I|uc003uxo.3,p.K1547I|ENST00000379442,p.K1690I|ENST00000536621,p.K1547I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003uxo.3 nonsynonymous SNV exon2 c.A4640T p.K1547I LPGSTTTAGLSEKSTTFYSSPRSPD LPGSTTTAGLSEISTTFYSSPRSPD 5.0 10.0 - - 4237_7:100638484-100638484 A>T_LPGSTTTAGLSEISTTFYSSPRSPD 0.0 19:40883777-40883777 C>T 1.0 4320 COLORECTAL - - ID=COSM1681034,COSM1681035;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) - PLD3 uc002onm.4,p.R424C|ENST00000409587,p.R424C|NM_012268,p.R424C|ENST00000409281,p.R424C|ENST00000409735,p.R424C|ENST00000356508,p.R424C|NM_001291311,p.R424C|uc002onj.4,p.R424C|uc002onn.3,p.R424C|NM_001031696,p.R424C|ENST00000409419,p.R424C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002onn.3 nonsynonymous SNV exon12 c.C1270T p.R424C ARVNHNKYMVTERATYIGTSNWSGN ARVNHNKYMVTECATYIGTSNWSGN 10.0 9.0 - - 4320_19:40883777-40883777 C>T_ARVNHNKYMVTECATYIGTSNWSGN 0.0 9:98209671-98209671 G>C 0.0 4278 COLORECTAL - - - 1 PTCH1 NM_000264,p.D1289E|uc010mrq.3,p.D1138E|uc004avl.4,p.D1138E|ENST00000430669,p.D1223E|NM_001083604,p.D1138E|ENST00000437951,p.D1223E|ENST00000375274,p.D1288E|NM_001083602,p.D1223E|uc010mrn.3,p.D81E|ENST00000421141,p.D1138E|uc004avm.4,p.D1288E|NM_001083603,p.D1288E|NM_001083605,p.D1138E|uc010mrp.3,p.D1138E|NM_001083607,p.D1138E|ENST00000418258,p.D1138E|uc010mro.3,p.D1138E|ENST00000429896,p.D1138E|uc010mrr.3,p.D1223E|NM_001083606,p.D1138E|uc004avk.4,p.D1289E|ENST00000331920,p.D1289E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010mrr.3 nonsynonymous SNV exon23 c.C3669G p.D1223E HPPSNPRQQPHLDSGSLPPGRQGQQ HPPSNPRQQPHLESGSLPPGRQGQQ 9.0 5.0 - - 4278_9:98209671-98209671 G>C_HPPSNPRQQPHLESGSLPPGRQGQQ 0.0 22:31884694-31884696 CTC>- 1.0 4160 COLORECTAL - - - - EIF4ENIF1 ENST00000397523,p.3_4del|uc003alc.1,p.3_4del|NM_001164501,p.3_4del|ENST00000330125,p.3_4del|uc003alb.2,p.3_4del|NM_001164502,p.3_4del|ENST00000397525,p.3_4del|ENST00000344710,p.3_4del|NM_019843,p.3_4del|uc003ala.2,p.3_4del|uc003akz.2,p.3_4del retained_intron, protein_coding, nonsense_mediated_decay uc003alc.1 nonframeshift deletion exon2 c.9_11del p.3_4del MDRRSMGETESGDAF MDRSMGETESGDAFL 8.0 9.0 - - 4160_22:31884694-31884696 CTC>-_MDRSMGETESGDAFL 0.0 1:176709319-176709319 C>T 0.0 2591 MELANOMA - - - - PAPPA2 NM_020318,p.H1380Y|uc001gkz.3,p.H1380Y|ENST00000367662,p.H1380Y protein_coding, processed_transcript uc001gkz.3 nonsynonymous SNV exon14 c.C4138T p.H1380Y PSNCISEDEGQNHQGQSCIHRPCGK PSNCISEDEGQNYQGQSCIHRPCGK 1.0 4.0 - - 2591_1:176709319-176709319 C>T_PSNCISEDEGQNYQGQSCIHRPCGK 0.0 6:56336886-56336886 G>T 1.0 4266 COLORECTAL - - - - DST ENST00000370788,p.L4971I|uc021zaz.2,p.L5080I|uc003pcy.4,p.L4754I|uc021zay.2,p.L5120I|ENST00000446842,p.L6842I|ENST00000370754,p.L7346I|NM_183380,p.L5080I|NM_001144770,p.L5120I|NM_015548,p.L4754I|ENST00000361203,p.L7057I|ENST00000370769,p.L7168I|NM_001144769,p.L5258I|uc021zba.2,p.L5258I|ENST00000244364,p.L4754I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021zba.2 nonsynonymous SNV exon88 c.C15772A p.L5258I QVWLLALERRRKLNDALDRLEELRE QVWLLALERRRKINDALDRLEELRE 8.0 8.0 - - 4266_6:56336886-56336886 G>T_QVWLLALERRRKINDALDRLEELRE 0.0 12:11061864-11061864 C>T 0.0 4160 COLORECTAL - - - - TAS2R13 NM_023920,p.V12I|uc001qzg.1,p.V12I|ENST00000390677,p.V12I protein_coding uc001qzg.1 nonsynonymous SNV exon1 c.G34A p.V12I MESALPSIFTLVIIAEFIIGNLSN MESALPSIFTLIIIAEFIIGNLSN 1.0 5.0 - - 4160_12:11061864-11061864 C>T_MESALPSIFTLIIIAEFIIGNLSN 0.0 2:11427807-11427807 T>A 1.0 4278 COLORECTAL - - - - ROCK2 ENST00000315872,p.K66M|NM_004850,p.K66M|uc002rbd.1,p.K66M|ENST00000261535,p.K66M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002rbd.1 nonsynonymous SNV exon2 c.A197T p.K66M VLDLDFPALRKNKNIDNFLNRYEKI VLDLDFPALRKNMNIDNFLNRYEKI 9.0 8.0 - - 4278_2:11427807-11427807 T>A_VLDLDFPALRKNMNIDNFLNRYEKI 0.0 5:175782629-175782629 C>T 1.0 4180 BREAST - - - - KIAA1191 NM_001079685,p.G51D|uc003mdx.3,p.G32D|NM_020444,p.G51D|NM_001287336,p.G32D|ENST00000506983,p.G32D|ENST00000504688,p.G32D|uc003mdy.3,p.G51D|ENST00000298569,p.G51D|ENST00000510164,p.G51D|ENST00000503082,p.G32D|uc003mdw.3,p.G51D|ENST00000393725,p.G32D|NM_001079684,p.G32D retained_intron, protein_coding, processed_transcript uc003mdy.3 nonsynonymous SNV exon3 c.G152A p.G51D DPAPMTPPPSDMGSVPWKPVIPERK DPAPMTPPPSDMDSVPWKPVIPERK 10.0 6.0 - - 4180_5:175782629-175782629 C>T_DPAPMTPPPSDMDSVPWKPVIPERK 0.0 2:113943552-113943552 G>A 0.0 2591 MELANOMA - - - - PSD4 uc002tjc.3,p.E450K|uc002tjf.3,p.E71K|NM_012455,p.E450K|uc002tjd.3,p.E71K|ENST00000245796,p.E450K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002tjf.3 nonsynonymous SNV exon3 c.G211A p.E71K RSPASSPEPSSPESESRGPGPRPSP RSPASSPEPSSPKSESRGPGPRPSP 3.0 2.0 - - 2591_2:113943552-113943552 G>A_RSPASSPEPSSPKSESRGPGPRPSP 0.0 1:243736232-243736232 A>C 0.0 4345 COLORECTAL - - - 2 AKT3 uc001hzz.1,p.L272R|uc021plu.1,p.L272R|NM_001206729,p.L272R|ENST00000336199,p.L272R|ENST00000263826,p.L272R|NM_005465,p.L272R|ENST00000366539,p.L272R|uc001iab.2,p.L272R|NM_181690,p.L272R|ENST00000366540,p.L272R protein_coding, processed_transcript uc021plu.1 nonsynonymous SNV exon9 c.T815G p.L272R DYLHSGKIVYRDLKLENLMLDKDGH DYLHSGKIVYRDRKLENLMLDKDGH 5.0 6.0 - - 4345_1:243736232-243736232 A>C_DYLHSGKIVYRDRKLENLMLDKDGH 0.0 9:32631370-32631370 G>A 0.0 4160 COLORECTAL - - ID=COSM1108221;OCCURENCE=1(endometrium) - TAF1L ENST00000242310,p.T1403M|NM_153809,p.T1403M|uc003zrg.1,p.T1403M protein_coding uc003zrg.1 nonsynonymous SNV exon1 c.C4208T p.T1403M KSIHRRRTDPMVTLSSILESIINDM KSIHRRRTDPMVMLSSILESIINDM 2.0 6.0 - - 4160_9:32631370-32631370 G>A_KSIHRRRTDPMVMLSSILESIINDM 0.0 11:33886211-33886211 C>T 0.0 4155 MELANOMA - - - 1 LMO2 uc001mvc.3,p.G58D|ENST00000395833,p.G65D|NM_005574,p.G134D|uc001mve.3,p.G65D|NM_001142316,p.G65D|ENST00000257818,p.G134D|NM_001142315,p.G65D|uc010rel.2,p.G65D|uc010rem.2,p.G134D|uc001mvd.3,p.G58D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010rem.2 nonsynonymous SNV exon5 c.G401A p.G134D DCLSCDLCGCRLGEVGRRLYYKLGR DCLSCDLCGCRLDEVGRRLYYKLGR 3.0 7.0 - - 4155_11:33886211-33886211 C>T_DCLSCDLCGCRLDEVGRRLYYKLGR 0.0 10:101089928-101089928 T>A 0.0 4259 COLORECTAL - - - - CNNM1 ENST00000446890,p.S191T|uc010qpi.2,p.S262T|uc009xwf.3,p.S262T|NM_020348,p.S262T|ENST00000370528,p.S191T|ENST00000356713,p.S262T|uc001kpp.4,p.S262T|uc009xwe.3,p.S262T protein_coding, processed_transcript uc010qpi.2 nonsynonymous SNV exon1 c.T784A p.S262T DPVELRVLRNSGSAAEQEQARRVQA DPVELRVLRNSGTAAEQEQARRVQA 2.0 4.0 - - 4259_10:101089928-101089928 T>A_DPVELRVLRNSGTAAEQEQARRVQA 0.0 1:215408442-215408442 C>T 0.0 4213 COLORECTAL - - ID=COSM3934466,COSM3934465;OCCURENCE=1(oesophagus) - KCNK2 NM_001017425,p.P412L|uc001hkr.4,p.P397L|uc001hkq.3,p.P412L|NM_014217,p.P397L|ENST00000444842,p.P412L|NM_001017424,p.P408L|ENST00000391895,p.P408L|uc001hko.3,p.P408L|ENST00000391894,p.P397L protein_coding, nonsense_mediated_decay uc001hkr.4 nonsynonymous SNV exon7 c.C1190T p.P397L LKTESIYLNGLTPHCAGEEIAVIEN LKTESIYLNGLTLHCAGEEIAVIEN 3.0 7.0 - - 4213_1:215408442-215408442 C>T_LKTESIYLNGLTLHCAGEEIAVIEN 0.0 3:184025754-184025754 C>T 1.0 3466 MELANOMA - - - - PSMD2 uc011brj.1,p.A633V|NM_001278708,p.A662V|uc011brk.1,p.A662V|ENST00000310118,p.A792V|NM_001278709,p.A633V|ENST00000439383,p.A662V|ENST00000435761,p.A633V|uc003fnn.1,p.A792V|NM_002808,p.A792V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011brk.1 nonsynonymous SNV exon17 c.C1985T p.A662V PYHSDRQLMSQVAVAGLLTVLVSFL PYHSDRQLMSQVVVAGLLTVLVSFL 10.0 5.0 - - 3466_3:184025754-184025754 C>T_PYHSDRQLMSQVVVAGLLTVLVSFL 0.0 13:32722023-32722023 G>T 0.0 4335 COLORECTAL - - - - FRY ENST00000380250,p.G444V|uc001utx.3,p.G444V|NM_023037,p.G444V protein_coding, processed_transcript, nonsense_mediated_decay uc001utx.3 nonsynonymous SNV exon13 c.G1331T p.G444V TIITTLFPKGSRGVVPRDMPLNIFV TIITTLFPKGSRVVVPRDMPLNIFV 7.0 9.0 - - 4335_13:32722023-32722023 G>T_TIITTLFPKGSRVVVPRDMPLNIFV 0.0 19:35836518-35836518 C>T 1.0 4189 MELANOMA - - - - CD22 ENST00000419549,p.P569L|NM_001771,p.P741L|NM_001185101,p.P564L|ENST00000536635,p.P653L|ENST00000341773,p.P564L|uc002nzb.4,p.P564L|uc010xst.2,p.P569L|uc010edt.3,p.P741L|NM_001185099,p.P653L|uc010edu.3,p.P653L|ENST00000594250,p.P564L|NM_001278417,p.P569L|ENST00000085219,p.P741L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010xst.2 nonsynonymous SNV exon12 c.C1706T p.P569L SFFVRNKKVRRAPLSEGPHSLGCYN SFFVRNKKVRRALLSEGPHSLGCYN 7.0 6.0 - - 4189_19:35836518-35836518 C>T_SFFVRNKKVRRALLSEGPHSLGCYN 0.0 X:123554578-123554578 T>A 0.0 4301 MELANOMA - - - - TENM1 uc010nqy.3,p.N1522I|ENST00000422452,p.N1522I|NM_014253,p.N1515I|uc004euj.3,p.N1515I|ENST00000371130,p.N1515I|NM_001163279,p.N1521I|NM_001163278,p.N1522I|uc011muj.2,p.N1521I protein_coding, processed_transcript uc011muj.2 nonsynonymous SNV exon25 c.A4562T p.N1521I SPDGTLYVADLGNVRIRTISRNQAH SPDGTLYVADLGIVRIRTISRNQAH 4.0 9.0 - - 4301_X:123554578-123554578 T>A_SPDGTLYVADLGIVRIRTISRNQAH 0.0 X:44942752-44942752 G>C 1.0 3775 CERVICAL - - - 1 KDM6A uc011mla.2,p.R1066P|uc011mkz.2,p.R1163P|NM_001291417,p.R1066P|ENST00000536777,p.R1066P|uc004dge.4,p.R1111P|NM_001291416,p.R1118P|uc011mlc.2,p.R815P|NM_001291421,p.R815P|uc022bvj.1,p.R1032P|ENST00000377967,p.R1111P|NM_021140,p.R1111P|ENST00000543216,p.R1032P|uc011mlb.2,p.R1118P|NM_001291415,p.R1163P|NM_001291418,p.R1032P|ENST00000382899,p.R1118P|uc011mld.2,p.R750P protein_coding, processed_transcript uc022bvj.1 nonsynonymous SNV exon21 c.G3095C p.R1032P QLHELTKLPAFVRVVSAGNLLSHVG QLHELTKLPAFVPVVSAGNLLSHVG 9.0 6.0 - - 3775_X:44942752-44942752 G>C_QLHELTKLPAFVPVVSAGNLLSHVG 0.0 12:11420941-11420941 G>C 1.0 4317 COLORECTAL - - ID=COSM1242709,COSM1242708;OCCURENCE=1(oesophagus) - PRB3 NM_006249,p.P81R|ENST00000381842,p.P81R|uc001qzs.3,p.P81R|ENST00000538488,p.P81R retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene uc001qzs.3 nonsynonymous SNV exon3 c.C242G p.P81R QGPPPRPGKPEGPPPQGGNQSQGPP QGPPPRPGKPEGRPPQGGNQSQGPP 2.0 3.0 - - 4317_12:11420941-11420941 G>C_QGPPPRPGKPEGRPPQGGNQSQGPP 0.0 1:44450603-44450603 G>A 1.0 4180 BREAST - - - - B4GALT2 NM_001005417,p.D206N|ENST00000372324,p.D206N|NM_003780,p.D206N|NM_030587,p.D235N|uc001clh.3,p.D140N|ENST00000309519,p.D235N|ENST00000434555,p.D140N|uc001clg.3,p.D206N|uc010okl.2,p.D235N|uc001cli.3,p.D206N|ENST00000356836,p.D206N protein_coding, processed_transcript uc010okl.2 nonsynonymous SNV exon4 c.G703A p.D235N LLNVGFLEALKEDAAYDCFIFSDVD LLNVGFLEALKENAAYDCFIFSDVD 10.0 10.0 - - 4180_1:44450603-44450603 G>A_LLNVGFLEALKENAAYDCFIFSDVD 0.0 14:105412858-105412858 T>G 1.0 4345 COLORECTAL - - - - AHNAK2 ENST00000333244,p.K2977T|uc001ypx.2,p.K2877T|NM_138420,p.K2977T|uc010axc.1,p.K2977T retained_intron, protein_coding uc010axc.1 nonsynonymous SNV exon7 c.A8930C p.K2977T SLADKDVTAKDSKFKMPKFKMPSFG SLADKDVTAKDSTFKMPKFKMPSFG 10.0 2.0 - - 4345_14:105412858-105412858 T>G_SLADKDVTAKDSTFKMPKFKMPSFG 0.0 1:152285630-152285630 C>T 0.0 2556 MELANOMA - - - - FLG ENST00000368799,p.G578R|NM_002016,p.G578R|uc001ezu.1,p.G578R protein_coding uc001ezu.1 nonsynonymous SNV exon3 c.G1732A p.G578R SASRQTRNEEQSGDGTRHSGSRHHE SASRQTRNEEQSRDGTRHSGSRHHE 1.0 5.0 - - 2556_1:152285630-152285630 C>T_SASRQTRNEEQSRDGTRHSGSRHHE 0.0 7:23830536-23830536 T>G 1.0 4252 COLORECTAL - - - - STK31 NM_032944,p.L888V|uc003swv.1,p.L77V|uc010kuq.4,p.L888V|uc003sws.5,p.L911V|ENST00000354639,p.L888V|NM_031414,p.L911V|NM_001260504,p.L888V|uc003swt.5,p.L888V|uc031swr.1,p.L888V|ENST00000355870,p.L911V|ENST00000428484,p.L888V retained_intron, protein_coding, processed_transcript uc031swr.1 nonsynonymous SNV exon22 c.T2662G p.L888V LKMGKPASPGSDLYAYGCLLLWLSV LKMGKPASPGSDVYAYGCLLLWLSV 6.0 2.0 - - 4252_7:23830536-23830536 T>G_LKMGKPASPGSDVYAYGCLLLWLSV 0.0 3:193080230-193080230 G>A 0.0 2591 MELANOMA - - - - ATP13A5 uc011bsq.2,p.S159F|ENST00000342358,p.S159F|NM_198505,p.S159F retained_intron, protein_coding, processed_transcript uc011bsq.2 nonsynonymous SNV exon5 c.C476T p.S159F RFQKVGLLEDSNSCSDIHQTFGLGL RFQKVGLLEDSNFCSDIHQTFGLGL 1.0 5.0 - - 2591_3:193080230-193080230 G>A_RFQKVGLLEDSNFCSDIHQTFGLGL 0.0 10:86131262-86131262 T>C 1.0 3713 MELANOMA - - - - CCSER2 uc001kdh.1,p.F152L|NM_001284240,p.F152L|NM_018999,p.F152L|uc010qmd.1,p.F152L|ENST00000372088,p.F152L|ENST00000359979,p.F152L|ENST00000224756,p.F152L|uc001kdg.1,p.F152L|NM_001284241,p.F152L protein_coding, processed_transcript uc010qmd.1 nonsynonymous SNV exon2 c.T454C p.F152L QKSFSGPSNLGKFTKGTLLGRTSYS QKSFSGPSNLGKLTKGTLLGRTSYS 7.0 6.0 - - 3713_10:86131262-86131262 T>C_QKSFSGPSNLGKLTKGTLLGRTSYS 0.0 8:22470624-22470624 C>T 1.0 3903 MELANOMA - - - - CCAR2 uc003xch.3,p.H227Y|ENST00000308511,p.H227Y|uc003xci.3,p.H227Y|ENST00000522599,p.H45Y|ENST00000389279,p.H227Y|NM_021174,p.H227Y retained_intron, protein_coding uc003xci.3 nonsynonymous SNV exon8 c.C679T p.H227Y KKPRHDLPPYRVHLTPYTVDSPICD KKPRHDLPPYRVYLTPYTVDSPICD 10.0 6.0 CD8 - 3903_8:22470624-22470624 C>T_KKPRHDLPPYRVYLTPYTVDSPICD 1.0 19:12985670-12985670 C>T 0.0 4284 COLORECTAL - - - - MAST1 uc002mvm.3,p.P1567S|NM_014975,p.P1567S|ENST00000251472,p.P1567S retained_intron, protein_coding uc002mvm.3 nonsynonymous SNV exon26 c.C4699T p.P1567S AGLTKKGVSSPAPPGP AGLTKKGVSSPASPGP 5.0 9.0 - - 4284_19:12985670-12985670 C>T_AGLTKKGVSSPASPGP 0.0 1:171544232-171544232 C>T 1.0 3466 MELANOMA - - - - PRRC2C NM_015172,p.P2305L|ENST00000392078,p.P2307L|uc010pmi.2,p.P142L|uc010pmg.2,p.P2305L|ENST00000338920,p.P2305L|ENST00000367742,p.P2307L|ENST00000426496,p.P2240L|uc010pmh.2,p.P1217L retained_intron, protein_coding, processed_transcript uc010pmi.2 nonsynonymous SNV exon7 c.C425T p.P142L YNSFSSASMPQIPVASVTPTASLSG YNSFSSASMPQILVASVTPTASLSG 10.0 3.0 - - 3466_1:171544232-171544232 C>T_YNSFSSASMPQILVASVTPTASLSG 0.0 5:118860945-118860945 C>T 1.0 3713 MELANOMA - - ID=COSM1696075;OCCURENCE=1(skin) - HSD17B4 ENST00000510025,p.P489L|ENST00000414835,p.P373L|NM_001292027,p.P489L|ENST00000256216,p.P513L|uc011cwg.2,p.P489L|uc010jcn.2,p.P251L|NM_001292028,p.P373L|uc003ksk.4,p.P366L|uc011cwh.2,p.P495L|uc011cwj.2,p.P366L|ENST00000513628,p.P376L|NM_001199291,p.P538L|ENST00000509514,p.P251L|ENST00000504811,p.P538L|NM_000414,p.P513L|ENST00000515320,p.P495L|NM_001199292,p.P495L|uc003ksj.3,p.P513L|uc011cwi.2,p.P538L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cwj.2 nonsynonymous SNV exon13 c.C1097T p.P366L QAALYRLSGDWNPLHIDPNFASLAG QAALYRLSGDWNLLHIDPNFASLAG 10.0 6.0 - - 3713_5:118860945-118860945 C>T_QAALYRLSGDWNLLHIDPNFASLAG 0.0 5:5242274-5242274 C>T 0.0 4275 COLORECTAL - - - - ADAMTS16 NM_139056,p.R878C|uc003jdk.1,p.R878C|ENST00000274181,p.R878C|uc003jdl.3,p.R878C retained_intron, protein_coding, processed_transcript uc003jdl.3 nonsynonymous SNV exon17 c.C2632T p.R878C PPAQPSYTWAIVRSECSVSCGGGQM PPAQPSYTWAIVCSECSVSCGGGQM 3.0 7.0 - - 4275_5:5242274-5242274 C>T_PPAQPSYTWAIVCSECSVSCGGGQM 0.0 4:62935916-62935916 G>A 0.0 4160 COLORECTAL - - - - LPHN3 ENST00000514996,p.G1268S|uc010ihh.3,p.G1234S|ENST00000514591,p.G1234S|ENST00000506746,p.G1336S|ENST00000508946,p.G1277S|ENST00000506720,p.G1345S|NM_015236,p.G1234S|ENST00000507625,p.G1293S|ENST00000545650,p.G1234S|uc003hct.3,p.G618S retained_intron, protein_coding, processed_transcript uc010ihh.3 nonsynonymous SNV exon23 c.G3700A p.G1234S NGNHGNSYSIASGEYLSNCVQIIDR NGNHGNSYSIASSEYLSNCVQIIDR 4.0 10.0 - - 4160_4:62935916-62935916 G>A_NGNHGNSYSIASSEYLSNCVQIIDR 0.0 4:55594007-55594007 G>C 1.0 4284 COLORECTAL - - - 1 KIT NM_001093772,p.G594A|ENST00000288135,p.G598A|uc010igs.3,p.G594A|uc010igr.3,p.G598A|ENST00000412167,p.G594A|uc010igt.2,p.G47A|NM_000222,p.G598A retained_intron, protein_coding uc010igt.2 nonsynonymous SNV exon2 c.G140C p.G47A RNRLSFGKTLGAGAFGKVVEATAYG RNRLSFGKTLGAAAFGKVVEATAYG 7.0 1.0 - - 4284_4:55594007-55594007 G>C_RNRLSFGKTLGAAAFGKVVEATAYG 0.0 3:189691765-189691765 C>T 1.0 3713 MELANOMA - - - - LEPREL1 NM_001134418,p.R313K|ENST00000427335,p.R313K|uc011bsk.2,p.R494K|NM_018192,p.R494K|uc003fsg.3,p.R313K|ENST00000319332,p.R494K retained_intron, protein_coding uc011bsk.2 nonsynonymous SNV exon10 c.G1481A p.R494K VASGIMLVGDGYRGKTSPHTPNEKF VASGIMLVGDGYKGKTSPHTPNEKF 2.0 2.0 - - 3713_3:189691765-189691765 C>T_VASGIMLVGDGYKGKTSPHTPNEKF 0.0 6:165711557-165711557 T>C 0.0 4346 COLORECTAL - - - - C6orf118 ENST00000230301,p.R324G|ENST00000543069,p.R220G|NM_144980,p.R324G|uc003qum.4,p.R324G protein_coding, processed_transcript uc003qum.4 nonsynonymous SNV exon5 c.A970G p.R324G EALLAQLKALGQRPVKTADMDLARE EALLAQLKALGQGPVKTADMDLARE 3.0 3.0 - - 4346_6:165711557-165711557 T>C_EALLAQLKALGQGPVKTADMDLARE 0.0 14:92441615-92441615 G>T 1.0 4316 COLORECTAL - - - 1 TRIP11 uc010auf.2,p.N1522K|uc001xzy.3,p.N1786K|ENST00000267622,p.N1786K|NM_004239,p.N1786K protein_coding, processed_transcript, nonsense_mediated_decay uc010auf.2 nonsynonymous SNV exon12 c.C4566A p.N1522K SSEGKVDKVLMRNLFIGHFHTPKNQ SSEGKVDKVLMRKLFIGHFHTPKNQ 9.0 4.0 - - 4316_14:92441615-92441615 G>T_SSEGKVDKVLMRKLFIGHFHTPKNQ 0.0 X:147743434-147743434 C>G 0.0 4160 COLORECTAL - - - - AFF2 uc004fcq.3,p.N58K|ENST00000370457,p.N58K|uc004fcr.3,p.N58K|ENST00000370458,p.N58K|ENST00000342251,p.N58K|NM_001169122,p.N58K|uc004fco.3,p.N58K|NM_001169123,p.N58K|uc004fcs.3,p.N58K|NM_001169125,p.N58K protein_coding uc004fcs.3 nonsynonymous SNV exon3 c.C174G p.N58K SGFDLFGEPYKTNKGDALANRVQNT SGFDLFGEPYKTKKGDALANRVQNT 1.0 10.0 - - 4160_X:147743434-147743434 C>G_SGFDLFGEPYKTKKGDALANRVQNT 0.0 1:109944647-109944647 G>C 1.0 4329 COLORECTAL - - ID=COSM674463;OCCURENCE=1(lung) - PSMA5 uc021ore.1,p.I180M|uc010ovj.2,p.I180M|ENST00000538610,p.I180M|NM_001199774,p.I180M|uc001dxn.3,p.I238M|NM_001199772,p.I180M|NM_002790,p.I238M|ENST00000271308,p.I238M|NM_001199773,p.I180M|uc021ord.1,p.I180M protein_coding, processed_transcript uc021ore.1 nonsynonymous SNV exon9 c.C540G p.I180M FHMFTKEELEEVIKDI FHMFTKEELEEVMKDI 10.0 10.0 - - 4329_1:109944647-109944647 G>C_FHMFTKEELEEVMKDI 0.0 5:176813558-176813558 T>C 0.0 4110 BILE DUCT - - - - SLC34A1 uc003mgk.4,p.S175P|ENST00000512593,p.S175P|uc021yis.1,p.S175P|ENST00000324417,p.S175P|NM_003052,p.S175P|NM_001167579,p.S175P retained_intron, protein_coding, processed_transcript uc021yis.1 nonsynonymous SNV exon5 c.T523C p.S175P SSTSTSIIVSMVSSGLLEVSSAIPI SSTSTSIIVSMVPSGLLEVSSAIPI 1.0 6.0 - - 4110_5:176813558-176813558 T>C_SSTSTSIIVSMVPSGLLEVSSAIPI 0.0 10:105952004-105952004 A>T 0.0 4245 COLORECTAL - - - - CFAP43 ENST00000428666,p.I501N|ENST00000357060,p.I500N|uc001kxx.4,p.I501N|ENST00000278064,p.I431N|uc001kxw.3,p.I500N|NM_025145,p.I500N protein_coding, processed_transcript uc001kxx.4 nonsynonymous SNV exon12 c.T1502A p.I501N FLLVGTAEGKVFIINANSSSSFQII FLLVGTAEGKVFNINANSSSSFQII 5.0 5.0 - - 4245_10:105952004-105952004 A>T_FLLVGTAEGKVFNINANSSSSFQII 0.0 1:35351108-35351108 G>A 0.0 4346 COLORECTAL - - - - DLGAP3 ENST00000373347,p.R629W|uc001byc.3,p.R629W|ENST00000235180,p.R629W|NM_001080418,p.R629W protein_coding, processed_transcript uc001byc.3 nonsynonymous SNV exon5 c.C1885T p.R629W PGREELRSLARQRKWRPSIGVQVET PGREELRSLARQWKWRPSIGVQVET 2.0 9.0 - - 4346_1:35351108-35351108 G>A_PGREELRSLARQWKWRPSIGVQVET 0.0 5:176885561-176885561 T>G 0.0 4245 COLORECTAL - - - - DBN1 uc010jkn.1,p.E375A|uc003mgy.2,p.E425A|ENST00000512501,p.E157A|ENST00000309007,p.E425A|NM_004395,p.E425A|uc003mgz.1,p.E408A|uc011dga.1,p.E157A|ENST00000393565,p.E471A|NM_080881,p.E427A|uc003mgx.2,p.E427A|ENST00000292385,p.E427A|ENST00000393563,p.E157A retained_intron, protein_coding uc011dga.1 nonsynonymous SNV exon5 c.A470C p.E157A GPGSPAEDLMFMESAEQAVLAAPVE GPGSPAEDLMFMASAEQAVLAAPVE 8.0 3.0 - - 4245_5:176885561-176885561 T>G_GPGSPAEDLMFMASAEQAVLAAPVE 0.0 2:182766643-182766643 G>A 1.0 3903 MELANOMA - - - - SSFA2 NM_001287504,p.R135Q|uc002uoh.3,p.R288Q|uc002uoi.3,p.R288Q|NM_001287503,p.R288Q|ENST00000409001,p.R288Q|uc002uoj.3,p.R288Q|uc010zfo.2,p.R135Q|ENST00000320370,p.R288Q|ENST00000428267,p.R135Q|NM_001130445,p.R288Q|uc002uol.3,p.R135Q|ENST00000431877,p.R288Q|NM_006751,p.R288Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010zfo.2 nonsynonymous SNV exon7 c.G404A p.R135Q SNKETDPPPPLTRSNTANRLMKTLS SNKETDPPPPLTQSNTANRLMKTLS 10.0 7.0 - - 3903_2:182766643-182766643 G>A_SNKETDPPPPLTQSNTANRLMKTLS 0.0 5:179762845-179762845 C>T 0.0 4317 COLORECTAL - - ID=COSM1436661;OCCURENCE=1(large_intestine) - GFPT2 ENST00000253778,p.R108H|uc003mlw.1,p.R108H|NM_005110,p.R108H retained_intron, protein_coding, processed_transcript uc003mlw.1 nonsynonymous SNV exon4 c.G323A p.R108H HGVPSAVNSHPQRSDKGNEFVVIHN HGVPSAVNSHPQHSDKGNEFVVIHN 4.0 5.0 - - 4317_5:179762845-179762845 C>T_HGVPSAVNSHPQHSDKGNEFVVIHN 0.0 6:10874250-10874250 G>T 0.0 4258 ENDOMETRIAL - - - - GCM2 NM_004752,p.T500N|uc003mzn.4,p.T500N|ENST00000379491,p.T500N protein_coding uc003mzn.4 nonsynonymous SNV exon5 c.C1499A p.T500N AVSYSDRVGPFFTYNNEDF AVSYSDRVGPFFNYNNEDF 1.0 7.0 - - 4258_6:10874250-10874250 G>T_AVSYSDRVGPFFNYNNEDF 0.0 7:115889146-115889146 A>T 1.0 4110 BILE DUCT - - - - TES uc003vho.3,p.K62N|uc010lka.2,p.K53N|NM_152829,p.K53N|NM_015641,p.K62N|ENST00000358204,p.K62N|ENST00000393481,p.K53N|uc011kmx.2,p.K62N|uc003vhp.3,p.K53N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011kmx.2 nonsynonymous SNV exon3 c.A186T p.K62N EHDVLLSNEEDRKVGKLFEDTKYTT EHDVLLSNEEDRNVGKLFEDTKYTT 10.0 6.0 CD8 - 4110_7:115889146-115889146 A>T_EHDVLLSNEEDRNVGKLFEDTKYTT 2.0 7:5967982-5967982 G>T 1.0 4252 COLORECTAL - - - - RSPH10B,RSPH10B2 uc010ktd.1,p.N759K|ENST00000404406,p.N759K|ENST00000337579,p.N759K|ENST00000405415,p.N759K|uc003sph.1,p.N759K|NM_173565,p.N759K|ENST00000441023,p.N759K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ktd.1 nonsynonymous SNV exon19 c.C2277A p.N759K YERPKDDREEEFNTWVNNMYVFFVN YERPKDDREEEFKTWVNNMYVFFVN 5.0 6.0 - - 4252_7:5967982-5967982 G>T_YERPKDDREEEFKTWVNNMYVFFVN 0.0 8:125575189-125575189 G>T 1.0 4326 BREAST - - - - MTSS1 uc011lin.1,p.S24Y|ENST00000325064,p.S294Y|uc003yrj.2,p.S290Y|NM_014751,p.S290Y|ENST00000522118,p.S90Y|NM_001282971,p.S294Y|NM_001282974,p.S290Y|uc003yrl.2,p.S294Y|ENST00000431961,p.S90Y|ENST00000524090,p.S180Y|ENST00000378017,p.S290Y|uc003yrk.2,p.S290Y|ENST00000395508,p.S24Y|uc003yri.2,p.S90Y|ENST00000518547,p.S290Y|ENST00000354184,p.S90Y|uc011lio.1,p.S180Y retained_intron, protein_coding, processed_transcript uc011lio.1 nonsynonymous SNV exon4 c.C539A p.S180Y NSVNSSDSRSSGSHSHSPSSHYRYR NSVNSSDSRSSGYHSHSPSSHYRYR 9.0 4.0 - - 4326_8:125575189-125575189 G>T_NSVNSSDSRSSGYHSHSPSSHYRYR 0.0 1:169560673-169560673 T>A 0.0 4110 BILE DUCT - - - - SELP ENST00000426706,p.N769I|uc001ggh.3,p.N605I protein_coding, processed_transcript uc001ggh.3 nonsynonymous SNV exon13 c.A1814T p.N605I VPTCQDDGKCPLNPHSHLGTYGVFT VPTCQDDGKCPLIPHSHLGTYGVFT 1.0 6.0 - - 4110_1:169560673-169560673 T>A_VPTCQDDGKCPLIPHSHLGTYGVFT 0.0 19:3573691-3573691 C>T 1.0 2556 MELANOMA - - - - HMG20B ENST00000453933,p.P14S|ENST00000416526,p.P14S|uc002lya.3,p.P14S|uc010xhn.1,p.P14S|uc010dtm.1,p.P14S|ENST00000417382,p.P14S|ENST00000435022,p.P14S|ENST00000262949,p.P14S|ENST00000333651,p.P14S|NM_006339,p.P14S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010xhn.1 nonsynonymous SNV exon2 c.C40T p.P14S SHGPKQPGAAAAPAGGKAPGQHGGF SHGPKQPGAAAASAGGKAPGQHGGF 10.0 1.0 - - 2556_19:3573691-3573691 C>T_SHGPKQPGAAAASAGGKAPGQHGGF 0.0 1:19500837-19500837 C>A 1.0 3919 MELANOMA - - - - UBR4 NM_020765,p.K986N|ENST00000375217,p.K986N|ENST00000375254,p.K986N|uc001bbm.1,p.K197N|uc001bbi.3,p.K986N|ENST00000375267,p.K986N|ENST00000375226,p.K986N protein_coding, processed_transcript uc001bbm.1 nonsynonymous SNV exon5 c.G591T p.K197N LAAGSQLDTVRRKENKNVTALEACA LAAGSQLDTVRRNENKNVTALEACA 10.0 3.0 - - 3919_1:19500837-19500837 C>A_LAAGSQLDTVRRNENKNVTALEACA 0.0 X:134166665-134166665 C>G 1.0 3775 CERVICAL - - - - FAM127A ENST00000257013,p.I84M|uc004eyd.3,p.I84M|NM_001078171,p.I84M protein_coding, processed_transcript uc004eyd.3 nonsynonymous SNV exon1 c.C252G p.I84M LTGPALQWVIPYIKKESPLLNDYRG LTGPALQWVIPYMKKESPLLNDYRG 9.0 10.0 - - 3775_X:134166665-134166665 C>G_LTGPALQWVIPYMKKESPLLNDYRG 0.0 14:77808263-77808263 T>G 1.0 4317 COLORECTAL - - - - TMED8 ENST00000216468,p.M277L|uc001xtn.1,p.M121L|NM_213601,p.M277L|uc001xto.1,p.M277L protein_coding uc001xto.1 nonsynonymous SNV exon6 c.A829C p.M277L SRSSLRGRYGEVMPVYRRDSHRDVQ SRSSLRGRYGEVLPVYRRDSHRDVQ 4.0 7.0 - - 4317_14:77808263-77808263 T>G_SRSSLRGRYGEVLPVYRRDSHRDVQ 0.0 7:128588330-128588330 G>A 1.0 2591 MELANOMA - - - - IRF5 uc003voh.3,p.G400E|ENST00000477535,p.G314E|ENST00000249375,p.G400E|NM_001242452,p.G314E|NM_001098630,p.G400E|uc003voi.3,p.G400E|ENST00000357234,p.G416E|uc010llt.3,p.G314E|NM_001098629,p.G416E|uc003voj.4,p.G400E|ENST00000473745,p.G400E|NM_001098627,p.G400E|ENST00000402030,p.G400E|NM_032643,p.G400E|uc003vog.3,p.G416E retained_intron, protein_coding, nonsense_mediated_decay uc010llt.3 nonsynonymous SNV exon7 c.G941A p.G314E NTPPPFEIFFCFGEEWPDRKPREKK NTPPPFEIFFCFEEEWPDRKPREKK 4.0 10.0 - - 2591_7:128588330-128588330 G>A_NTPPPFEIFFCFEEEWPDRKPREKK 0.0 21:35469257-35469257 C>T 1.0 3879 MELANOMA - - - - SLC5A3 uc021wir.1,p.P587L|uc002yto.3,p.P587L|NM_006933,p.P587L|ENST00000381151,p.P587L protein_coding uc021wir.1 nonsynonymous SNV exon1 c.C1760T p.P587L CSENNETINHIIPNGKSEDSIKGLQ CSENNETINHIILNGKSEDSIKGLQ 9.0 9.0 CD8 - 3879_21:35469257-35469257 C>T_CSENNETINHIILNGKSEDSIKGLQ 2.0 11:1262392-1262392 G>A 0.0 3919 MELANOMA - - - - MUC5B uc001lta.3,p.E1428K|ENST00000529681,p.E1428K|ENST00000447027,p.E1431K|NM_002458,p.E1428K retained_intron, protein_coding, processed_transcript uc001lta.3 nonsynonymous SNV exon31 c.G4282A p.E1428K LCHDYELRVLCCEYVPCGPSPAPGT LCHDYELRVLCCKYVPCGPSPAPGT 3.0 9.0 - - 3919_11:1262392-1262392 G>A_LCHDYELRVLCCKYVPCGPSPAPGT 0.0 4:129019407-129019407 A>C 1.0 4320 COLORECTAL - - - - LARP1B ENST00000432347,p.Q245H|uc003ifx.3,p.Q245H|NM_001278604,p.Q245H|ENST00000427266,p.Q245H|ENST00000394288,p.Q245H|NM_018078,p.Q245H|NM_032239,p.Q245H|ENST00000264584,p.Q198H|ENST00000441387,p.Q245H|uc003ifw.1,p.Q198H|NM_178043,p.Q245H|uc003ify.3,p.Q245H|ENST00000512292,p.Q245H|uc003ifz.1,p.Q245H|uc003iga.3,p.Q245H|ENST00000508819,p.Q198H|ENST00000326639,p.Q245H protein_coding, processed_transcript, nonsense_mediated_decay uc003iga.3 nonsynonymous SNV exon8 c.A735C p.Q245H ERDFFLRGKMDEQGFLPISLIAGFQ ERDFFLRGKMDEHGFLPISLIAGFQ 8.0 7.0 - - 4320_4:129019407-129019407 A>C_ERDFFLRGKMDEHGFLPISLIAGFQ 0.0 19:46807177-46807177 G>A 1.0 3784 MELANOMA - - - - HIF3A ENST00000300862,p.E15K|uc002pel.3,p.E15K|NM_152794,p.E15K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002pel.3 nonsynonymous SNV exon2 c.G43A p.E15K WQDHRSTTELRKEKSRDAARSRRSQ WQDHRSTTELRKKKSRDAARSRRSQ 6.0 9.0 - - 3784_19:46807177-46807177 G>A_WQDHRSTTELRKKKSRDAARSRRSQ 0.0 X:41203555-41203556 AT>- 1.0 3879 MELANOMA - - - 1 DDX3X ENST00000457138,p.I294fs|uc011mkr.2,p.I310fs|NM_001356,p.I310fs|uc011mkq.2,p.I294fs|NM_001193416,p.I310fs|uc004dfe.3,p.I310fs|ENST00000399959,p.I310fs|NM_001193417,p.I294fs|uc004dff.3,p.I310fs protein_coding, processed_transcript uc011mkr.2 frameshift deletion exon10 c.928_929del p.I310fs CVVYGGADIGQQIRDLERGCHLLVA CVVYGGADIGQQSRLGTWMPFVSSHSRTSSGYDGKRKDWIRLLQILGVR 9.0 2.0 - - 3879_X:41203555-41203556 AT>-_CVVYGGADIGQQSRLGTWMPFVSSHSRTSSGYDGKRKDWIRLLQILGVR 0.0 11:55861283-55861283 C>A 0.0 4298 COLORECTAL - - - - OR8I2 uc010rix.2,p.A167E|ENST00000560768,p.A167E|ENST00000302124,p.A167E|NM_001003750,p.A167E protein_coding uc010rix.2 nonsynonymous SNV exon1 c.C500A p.A167E SSLISVWVISSLAFCDSSINHFFCD SSLISVWVISSLEFCDSSINHFFCD 1.0 7.0 - - 4298_11:55861283-55861283 C>A_SSLISVWVISSLEFCDSSINHFFCD 0.0 5:13914689-13914689 G>C 0.0 4298 COLORECTAL - - - - DNAH5 ENST00000265104,p.I420M|NM_001369,p.I420M|uc003jfd.2,p.I420M retained_intron, protein_coding, processed_transcript uc003jfd.2 nonsynonymous SNV exon10 c.C1260G p.I420M CKAYITNNGTASIWNQPQDVVEEKI CKAYITNNGTASMWNQPQDVVEEKI 4.0 5.0 - - 4298_5:13914689-13914689 G>C_CKAYITNNGTASMWNQPQDVVEEKI 0.0 17:36718350-36718350 T>C 1.0 4345 COLORECTAL - - - - SRCIN1 uc002hqd.3,p.E350G|ENST00000264659,p.E350G|NM_025248,p.E350G|uc002hqe.2,p.E204G|ENST00000578925,p.E384G|ENST00000584266,p.E410G|uc002hqh.1,p.E410G|uc002hqf.1,p.E222G retained_intron, protein_coding, processed_transcript uc002hqh.1 nonsynonymous SNV exon7 c.A1229G p.E410G PSYAGSPVHHAAERLGGAPAAQGVS PSYAGSPVHHAAGRLGGAPAAQGVS 5.0 6.0 - - 4345_17:36718350-36718350 T>C_PSYAGSPVHHAAGRLGGAPAAQGVS 0.0 X:10176241-10176241 C>T 1.0 2369 MELANOMA - - - - CLCN4 ENST00000421085,p.P240S|uc004csy.4,p.P334S|NM_001256944,p.P240S|NM_001830,p.P334S|ENST00000380833,p.P334S|uc011mid.3,p.P240S protein_coding uc011mid.3 nonsynonymous SNV exon7 c.C718T p.P240S EYHTPWYMAELFPFILLGVFGGLWG EYHTPWYMAELFSFILLGVFGGLWG 6.0 10.0 - - 2369_X:10176241-10176241 C>T_EYHTPWYMAELFSFILLGVFGGLWG 0.0 20:32026691-32026691 G>A 1.0 4252 COLORECTAL - - - - SNTA1 uc002wzd.1,p.A151V|ENST00000217381,p.A151V|NM_003098,p.A151V|uc010zuf.1,p.A151V protein_coding uc010zuf.1 nonsynonymous SNV exon2 c.C452T p.A151V NGEDLSSATHDEAVQVLKKTGKEVV NGEDLSSATHDEVVQVLKKTGKEVV 7.0 7.0 - - 4252_20:32026691-32026691 G>A_NGEDLSSATHDEVVQVLKKTGKEVV 0.0 2:49190317-49190317 C>T 0.0 4284 COLORECTAL - - - - FSHR ENST00000346173,p.C486Y|uc002rwx.3,p.C486Y|NM_000145,p.C548Y|ENST00000406846,p.C548Y|ENST00000304421,p.C522Y|uc010fbn.3,p.C522Y|uc002rww.3,p.C548Y|ENST00000541117,p.C284Y|NM_181446,p.C522Y protein_coding, processed_transcript, nonsense_mediated_decay uc010fbn.3 nonsynonymous SNV exon9 c.G1565A p.C522Y VLNVLAFVVICGCYIHIYLTVRNPN VLNVLAFVVICGYYIHIYLTVRNPN 2.0 3.0 - - 4284_2:49190317-49190317 C>T_VLNVLAFVVICGYYIHIYLTVRNPN 0.0 7:150094539-150094539 T>G 1.0 4213 COLORECTAL - - - - ZNF775 ENST00000329630,p.L324V|NM_173680,p.L324V|uc003whf.1,p.L324V protein_coding, processed_transcript uc003whf.1 nonsynonymous SNV exon3 c.T970G p.L324V PECGRRFSQKPNLTRHLRNHTGERP PECGRRFSQKPNVTRHLRNHTGERP 9.0 5.0 - - 4213_7:150094539-150094539 T>G_PECGRRFSQKPNVTRHLRNHTGERP 0.0 2:120005729-120005729 T>A 1.0 4071 COLORECTAL - - - - STEAP3 ENST00000354888,p.L323M|ENST00000425223,p.L323M|ENST00000393108,p.L323M|ENST00000393106,p.L323M|NM_182915,p.L333M|uc002tlp.3,p.L323M|uc010fle.3,p.L323M|NM_018234,p.L323M|ENST00000393110,p.L333M|ENST00000393107,p.L323M|NM_001008410,p.L323M|ENST00000450943,p.L323M|uc002tlq.3,p.L333M|ENST00000409811,p.L323M|uc002tlr.3,p.L323M protein_coding uc010fle.3 nonsynonymous SNV exon3 c.T967A p.L323M FCAALHALYSFCLPLRRAHRYDLVN FCAALHALYSFCMPLRRAHRYDLVN 8.0 8.0 - - 4071_2:120005729-120005729 T>A_FCAALHALYSFCMPLRRAHRYDLVN 0.0 5:3599454-3599454 C>A 0.0 4110 BILE DUCT - - - - IRX1 NM_024337,p.P131H|uc003jde.3,p.P131H|ENST00000302006,p.P131H protein_coding uc003jde.3 nonsynonymous SNV exon2 c.C392A p.P131H PYGQFQYGDPGRPKNATRESTSTLK PYGQFQYGDPGRHKNATRESTSTLK 1.0 8.0 - - 4110_5:3599454-3599454 C>A_PYGQFQYGDPGRHKNATRESTSTLK 0.0 21:15599340-15599340 A>G 1.0 4301 MELANOMA - - - - RBM11 uc002yjo.4,p.H191R|uc002yjn.4,p.H77R|NM_144770,p.H191R|ENST00000400577,p.H191R|uc002yjp.4,p.H77R retained_intron, protein_coding, processed_transcript uc002yjp.4 nonsynonymous SNV exon4 c.A230G p.H77R DLEAGPSSYKWTHQQPSDSDLYQMT DLEAGPSSYKWTRQQPSDSDLYQMT 7.0 2.0 - - 4301_21:15599340-15599340 A>G_DLEAGPSSYKWTRQQPSDSDLYQMT 0.0 2:27247103-27247103 C>T 1.0 4149 OVARIAN - - - - MAPRE3 ENST00000233121,p.A136V|ENST00000458529,p.A136V|NM_012326,p.A136V|uc002rhw.3,p.A136V retained_intron, protein_coding, processed_transcript uc002rhw.3 nonsynonymous SNV exon4 c.C407T p.A136V YNPLLARQGQDVAPPPNPGDQIFNK YNPLLARQGQDVVPPPNPGDQIFNK 8.0 5.0 - - 4149_2:27247103-27247103 C>T_YNPLLARQGQDVVPPPNPGDQIFNK 0.0 5:60839843-60839843 C>T 1.0 4000 MELANOMA - - - - ZSWIM6 ENST00000252744,p.P1116L|NM_020928,p.P1116L|uc003jsr.3,p.P1116L protein_coding uc003jsr.3 nonsynonymous SNV exon14 c.C3347T p.P1116L LSDILRRCTLTTPGMVGLHGRRNSG LSDILRRCTLTTLGMVGLHGRRNSG 8.0 2.0 - - 4000_5:60839843-60839843 C>T_LSDILRRCTLTTLGMVGLHGRRNSG 0.0 20:44528512-44528512 C>T 1.0 4189 MELANOMA - - - - PLTP ENST00000542937,p.R414Q|ENST00000477313,p.R394Q|NM_182676,p.R342Q|ENST00000354050,p.R342Q|ENST00000420868,p.R299Q|NM_001242920,p.R299Q|uc002xqn.2,p.R394Q|uc002xqq.2,p.R363Q|uc002xql.2,p.R306Q|ENST00000372431,p.R394Q|NM_006227,p.R394Q|uc010zxj.2,p.R299Q|uc002xqm.2,p.R414Q|ENST00000372420,p.R306Q|NM_001242921,p.R306Q|uc002xqo.2,p.R342Q protein_coding uc010zxj.2 nonsynonymous SNV exon11 c.G896A p.R299Q KALRTQLDLRRFRIYSNHSALESLA KALRTQLDLRRFQIYSNHSALESLA 10.0 2.0 - - 4189_20:44528512-44528512 C>T_KALRTQLDLRRFQIYSNHSALESLA 0.0 6:166580091-166580091 C>T 0.0 4275 COLORECTAL - - - - T ENST00000366871,p.G154R|ENST00000461348,p.G154R|ENST00000296946,p.G154R|uc003qut.2,p.G154R|NM_003181,p.G154R|uc003quv.2,p.G154R|NM_001270484,p.G154R|uc003quu.2,p.G154R|ENST00000366876,p.G154R protein_coding uc003quv.2 nonsynonymous SNV exon3 c.G460A p.G154R SFSKVKLTNKLNGGGQIMLNSLHKY SFSKVKLTNKLNRGGQIMLNSLHKY 2.0 2.0 - - 4275_6:166580091-166580091 C>T_SFSKVKLTNKLNRGGQIMLNSLHKY 0.0 17:11672508-11672508 C>T 0.0 4213 COLORECTAL - - - - DNAH9 ENST00000454412,p.R2472W|NM_001372,p.R2472W|uc002gne.3,p.R2472W|uc010coo.3,p.R1766W|ENST00000262442,p.R2472W retained_intron, protein_coding, processed_transcript uc010coo.3 nonsynonymous SNV exon26 c.C5296T p.R1766W VCYFMERLMARQRPVMLVGTAGTGK VCYFMERLMARQWPVMLVGTAGTGK 5.0 6.0 - - 4213_17:11672508-11672508 C>T_VCYFMERLMARQWPVMLVGTAGTGK 0.0 7:2581000-2581000 G>A 1.0 3784 MELANOMA - - - - BRAT1 NM_152743,p.T418I|uc003smi.3,p.T418I|ENST00000340611,p.T418I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003smi.3 nonsynonymous SNV exon9 c.C1253T p.T418I APASSVGGHLCGTLAGCVRVQRAAL APASSVGGHLCGILAGCVRVQRAAL 7.0 10.0 - - 3784_7:2581000-2581000 G>A_APASSVGGHLCGILAGCVRVQRAAL 0.0 1:228598777-228598777 G>T 1.0 4177 PANCREATIC - - - - TRIM17 uc009xfb.2,p.T209K|ENST00000366698,p.T209K|NM_001024940,p.T209K|NM_016102,p.T209K|ENST00000479800,p.T182K|ENST00000295033,p.T209K|uc001hsu.3,p.T209K|ENST00000366697,p.T209K|ENST00000456946,p.T209K|NM_001134855,p.T209K|uc001hsv.3,p.T209K protein_coding uc009xfb.2 nonsynonymous SNV exon4 c.C626A p.T209K VEEEQRLLQALETEEEETASRLRES VEEEQRLLQALEKEEEETASRLRES 4.0 7.0 - - 4177_1:228598777-228598777 G>T_VEEEQRLLQALEKEEEETASRLRES 0.0 10:13151129-13151129 C>T 1.0 3903 MELANOMA - - - - OPTN uc001ilu.1,p.H3Y|NM_021980,p.H3Y|ENST00000378747,p.H3Y|ENST00000263036,p.H3Y|uc001ily.1,p.H3Y|uc001ilw.1,p.H3Y|NM_001008212,p.H3Y|NM_001008211,p.H3Y|ENST00000378764,p.H3Y|ENST00000378757,p.H3Y|ENST00000378752,p.H3Y|uc001ilv.1,p.H3Y|uc001ilx.1,p.H3Y|NM_001008213,p.H3Y|ENST00000378748,p.H3Y protein_coding, processed_transcript uc001ily.1 nonsynonymous SNV exon4 c.C7T p.H3Y MSHQPLSCLTEKEDS MSYQPLSCLTEKEDS 8.0 10.0 - - 3903_10:13151129-13151129 C>T_MSYQPLSCLTEKEDS 0.0 7:25176114-25176114 G>T 1.0 4000 MELANOMA - - - - C7orf31 NM_138811,p.T417K|ENST00000409280,p.T417K|uc003sxn.1,p.T417K|ENST00000283905,p.T417K protein_coding uc003sxn.1 nonsynonymous SNV exon10 c.C1250A p.T417K LLSTYELPSCYPTKDLTSIYDIKPF LLSTYELPSCYPKKDLTSIYDIKPF 7.0 6.0 - - 4000_7:25176114-25176114 G>T_LLSTYELPSCYPKKDLTSIYDIKPF 0.0 2:179431472-179431472 C>T 0.0 3775 CERVICAL - - - - TTN uc021vta.2,p.A17523T|NM_001256850,p.A24822T|ENST00000342992,p.A23895T|uc031rqc.1,p.A26463T|ENST00000591111,p.A24822T|uc021vtb.2,p.A17398T|uc031rqd.1,p.A24822T|uc021vsz.2,p.A17590T|NM_133437,p.A17590T|uc021vsy.2,p.A23895T|ENST00000589042,p.A26463T|ENST00000460472,p.A17398T|ENST00000359218,p.A17523T|NM_133378,p.A23895T|NM_001267550,p.A26463T|NM_003319,p.A17398T|ENST00000342175,p.A17590T|NM_133432,p.A17523T retained_intron, protein_coding uc031rqd.1 nonsynonymous SNV exon276 c.G74464A p.A24822T LTEDHEYEFRVSAENAAGVGEPSPA LTEDHEYEFRVSTENAAGVGEPSPA 2.0 8.0 - - 3775_2:179431472-179431472 C>T_LTEDHEYEFRVSTENAAGVGEPSPA 0.0 11:120999042-120999042 T>A 0.0 4160 COLORECTAL - - - - TECTA NM_005422,p.S786T|ENST00000392793,p.S786T|ENST00000264037,p.S786T|uc010rzo.2,p.S786T protein_coding, processed_transcript uc010rzo.2 nonsynonymous SNV exon8 c.T2356A p.S786T ADQEVKIGGIGASEVKLNGQEVELP ADQEVKIGGIGATEVKLNGQEVELP 1.0 3.0 - - 4160_11:120999042-120999042 T>A_ADQEVKIGGIGATEVKLNGQEVELP 0.0 16:722106-722106 C>T 1.0 2369 MELANOMA - - - - RHOT2 uc002ciq.3,p.R267W|ENST00000315082,p.R374W|NM_138769,p.R374W|uc002cip.3,p.R374W|uc010bqy.3,p.R153W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010bqy.3 nonsynonymous SNV exon4 c.C457T p.R153W LCQWTLVTYLDVRSCLGHLGYLGYP LCQWTLVTYLDVWSCLGHLGYLGYP 10.0 8.0 - - 2369_16:722106-722106 C>T_LCQWTLVTYLDVWSCLGHLGYLGYP 0.0 10:16737059-16737059 G>A 1.0 4189 MELANOMA - - - - RSU1 NM_012425,p.H232Y|ENST00000345264,p.H232Y|uc001iom.3,p.H179Y|NM_152724,p.H179Y|uc001iol.3,p.H232Y|ENST00000602389,p.H179Y|uc001iok.3,p.H232Y|ENST00000377921,p.H232Y protein_coding, nonsense_mediated_decay uc001iom.3 nonsynonymous SNV exon7 c.C535T p.H179Y TPIADQFQLGVSHVFEYIRSETYKY TPIADQFQLGVSYVFEYIRSETYKY 10.0 8.0 - - 4189_10:16737059-16737059 G>A_TPIADQFQLGVSYVFEYIRSETYKY 0.0 16:27495532-27495532 T>C 0.0 4345 COLORECTAL - - - - GTF3C1 NM_001520,p.K1334R|ENST00000561623,p.K1334R|uc002dov.2,p.K1334R|uc002dou.3,p.K1334R|ENST00000356183,p.K1334R|NM_001286242,p.K1334R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002dov.2 nonsynonymous SNV exon25 c.A4001G p.K1334R YIVKNPQAYLNYKVCLAEVYQDKAL YIVKNPQAYLNYRVCLAEVYQDKAL 7.0 2.0 - - 4345_16:27495532-27495532 T>C_YIVKNPQAYLNYRVCLAEVYQDKAL 0.0 19:43585265-43585265 G>C 0.0 4186 BREAST - - - - PSG2 NM_031246,p.I66M|ENST00000406487,p.I66M|uc002ovr.3,p.I66M protein_coding, processed_transcript uc002ovr.3 nonsynonymous SNV exon2 c.C198G p.I66M LVHNLPQNLTGYIWYKGQIRDLYHY LVHNLPQNLTGYMWYKGQIRDLYHY 1.0 4.0 - - 4186_19:43585265-43585265 G>C_LVHNLPQNLTGYMWYKGQIRDLYHY 0.0 7:44286784-44286784 T>C 0.0 4275 COLORECTAL - - - - CAMK2B ENST00000346990,p.I117V|ENST00000350811,p.I117V|NM_001293170,p.I117V|ENST00000347193,p.I117V|ENST00000440254,p.I117V|ENST00000395749,p.I117V|ENST00000358707,p.I117V|uc003tkv.2,p.I117V|uc003tkp.2,p.I117V|uc003tkr.2,p.I117V|NM_172083,p.I117V|uc003tks.2,p.I117V|NM_172082,p.I117V|ENST00000353185,p.I117V|ENST00000421607,p.I117V|NM_172081,p.I117V|ENST00000415369,p.I133V|ENST00000395747,p.I117V|ENST00000258682,p.I117V|ENST00000353625,p.I117V|ENST00000457475,p.I117V|uc003tkq.2,p.I117V|uc010kyc.2,p.I117V|NM_172079,p.I117V|NM_001220,p.I117V|NM_172080,p.I117V|uc003tkw.2,p.I117V|uc003tkt.2,p.I117V|NM_172084,p.I117V|uc003tku.2,p.I117V|NM_172078,p.I117V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010kyc.2 nonsynonymous SNV exon6 c.A349G p.I117V REYYSEADASHCIQQILEAVLHCHQ REYYSEADASHCVQQILEAVLHCHQ 4.0 1.0 - - 4275_7:44286784-44286784 T>C_REYYSEADASHCVQQILEAVLHCHQ 0.0 12:12815259-12815259 C>T 1.0 2591 MELANOMA - - - - GPR19 uc001rar.3,p.E42K|ENST00000332427,p.E42K|ENST00000540796,p.E42K|uc001raq.2,p.E42K|uc021qvj.1,p.E42K|NM_006143,p.E42K|ENST00000540510,p.E42K protein_coding, processed_transcript uc021qvj.1 nonsynonymous SNV exon1 c.G124A p.E42K ETATPLPSQYLMELSEEHSWMSNQT ETATPLPSQYLMKLSEEHSWMSNQT 4.0 6.0 - - 2591_12:12815259-12815259 C>T_ETATPLPSQYLMKLSEEHSWMSNQT 0.0 12:59272636-59272636 T>C 1.0 4266 COLORECTAL - - - 1 LRIG3 uc009zqh.3,p.I625V|ENST00000320743,p.I685V|NM_153377,p.I685V|uc001sqr.4,p.I685V|ENST00000379141,p.I625V|NM_001136051,p.I625V retained_intron, protein_coding, nonsense_mediated_decay uc009zqh.3 nonsynonymous SNV exon14 c.A1873G p.I625V VYSCTAQNSAGSISANATLTVLETP VYSCTAQNSAGSVSANATLTVLETP 7.0 6.0 - - 4266_12:59272636-59272636 T>C_VYSCTAQNSAGSVSANATLTVLETP 0.0 14:50218375-50218375 T>G 0.0 4335 COLORECTAL - - - - KLHDC1 NM_172193,p.L369R|ENST00000359332,p.L369R|uc001www.3,p.L369R|uc010tqh.2,p.L284R|uc010tqg.2,p.L324R protein_coding, processed_transcript, nonsense_mediated_decay uc010tqh.2 nonsynonymous SNV exon13 c.T851G p.L284R MLESQISLLPPKLLQQVLKKITFWA MLESQISLLPPKRLQQVLKKITFWA 6.0 6.0 - - 4335_14:50218375-50218375 T>G_MLESQISLLPPKRLQQVLKKITFWA 0.0 7:140301488-140301488 C>A 1.0 3919 MELANOMA - - - - DENND2A ENST00000537639,p.G237V|ENST00000492720,p.G237V|ENST00000461883,p.G237V|uc003vvw.3,p.G237V|uc010lnj.3,p.G237V|uc010lnk.3,p.G237V|ENST00000496613,p.G237V|NM_015689,p.G237V|ENST00000275884,p.G237V|uc003vvx.3,p.G237V protein_coding, nonsense_mediated_decay uc010lnk.3 nonsynonymous SNV exon3 c.G710T p.G237V REPTPELVEDRKGSCRRPWDRSLEN REPTPELVEDRKVSCRRPWDRSLEN 5.0 1.0 - - 3919_7:140301488-140301488 C>A_REPTPELVEDRKVSCRRPWDRSLEN 0.0 22:19434915-19434915 T>C 1.0 4189 MELANOMA - - - - C22orf39 NM_001166242,p.N97D|ENST00000399568,p.N60D|uc002zpi.3,p.N97D|ENST00000542103,p.N97D protein_coding, processed_transcript, nonsense_mediated_decay uc002zpi.3 nonsynonymous SNV exon2 c.A289G p.N97D DLASCRDWEERRNAEAQVLSVVAHT DLASCRDWEERRDAEAQVLSVVAHT 8.0 7.0 - - 4189_22:19434915-19434915 T>C_DLASCRDWEERRDAEAQVLSVVAHT 0.0 3:122437754-122437754 A>G 1.0 3678 MELANOMA - - - - PARP14 uc003efs.1,p.T1303A|uc003efq.4,p.T1586A|ENST00000474629,p.T1586A|ENST00000460683,p.T1427A|NM_017554,p.T1586A|uc021xdc.1,p.T1450A|uc003efr.3,p.T1303A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021xdc.1 nonsynonymous SNV exon11 c.A4348G p.T1450A RHYTVNLNTYTATDTKGHSLSVQRL RHYTVNLNTYTAADTKGHSLSVQRL 10.0 1.0 - - 3678_3:122437754-122437754 A>G_RHYTVNLNTYTAADTKGHSLSVQRL 0.0 7:120446742-120446742 T>G 1.0 4078 GASTRIC - - - - TSPAN12 ENST00000415871,p.K158T|uc010lkj.3,p.K31T|uc003vjk.3,p.K158T|NM_012338,p.K158T|ENST00000222747,p.K158T protein_coding, nonsense_mediated_decay uc010lkj.3 nonsynonymous SNV exon3 c.A92C p.K31T LTHAWNFFQREFKCCGVVYFTDWLE LTHAWNFFQREFTCCGVVYFTDWLE 5.0 7.0 - - 4078_7:120446742-120446742 T>G_LTHAWNFFQREFTCCGVVYFTDWLE 0.0 4:8456500-8456500 G>A 1.0 3903 MELANOMA - - ID=COSM1694143,COSM1694144;OCCURENCE=1(skin) - TRMT44 ENST00000389737,p.R388K|ENST00000513449,p.R147K|NM_152544,p.R388K|uc003glg.2,p.R388K|uc003glf.1,p.R147K retained_intron, protein_coding, processed_transcript uc003glg.2 nonsynonymous SNV exon6 c.G1163A p.R388K EGHPGRGIDVRRRKIWDMYGPQTQL EGHPGRGIDVRRKKIWDMYGPQTQL 6.0 7.0 - - 3903_4:8456500-8456500 G>A_EGHPGRGIDVRRKKIWDMYGPQTQL 0.0 2:173891885-173891885 G>T 0.0 4266 COLORECTAL - - ID=COSM1663827;OCCURENCE=1(kidney) - RAPGEF4 ENST00000539331,p.R666I|ENST00000409036,p.R819I|NM_001282900,p.R648I|ENST00000538974,p.R648I|ENST00000540783,p.R666I|uc002uhv.4,p.R819I|NM_001282899,p.R666I|ENST00000535187,p.R599I|ENST00000397085,p.R50I|ENST00000264111,p.R818I|NM_007023,p.R819I|uc002uhw.4,p.R675I|ENST00000397081,p.R819I|NM_001100397,p.R675I|NM_001282901,p.R599I|ENST00000397087,p.R675I retained_intron, protein_coding, processed_transcript uc002uhw.4 nonsynonymous SNV exon22 c.G2024T p.R675I KKTTANLDLFLRRFNEIQFWVVTEI KKTTANLDLFLRIFNEIQFWVVTEI 6.0 4.0 - - 4266_2:173891885-173891885 G>T_KKTTANLDLFLRIFNEIQFWVVTEI 0.0 2:162696425-162696425 G>A 0.0 3903 MELANOMA - - ID=COSM3748711,COSM385342,COSM3748712;OCCURENCE=1(lung),1(stomach) - SLC4A10 NM_001178016,p.R146Q|ENST00000272716,p.R135Q|ENST00000375514,p.R146Q|uc010fpa.1,p.R147Q|NM_001178015,p.R135Q|ENST00000415876,p.R135Q|ENST00000535165,p.R135Q|uc010zcs.2,p.R146Q|uc002uby.4,p.R135Q|ENST00000421911,p.R135Q|ENST00000446997,p.R135Q|ENST00000446228,p.R135Q|uc002ubx.4,p.R135Q|NM_022058,p.R135Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010zcs.2 nonsynonymous SNV exon5 c.G437A p.R146Q EICWREGEDAEWRETARWLKFEEDV EICWREGEDAEWQETARWLKFEEDV 1.0 8.0 - - 3903_2:162696425-162696425 G>A_EICWREGEDAEWQETARWLKFEEDV 0.0 20:47850238-47850238 T>C 1.0 4180 BREAST - - - - DDX27 NM_017895,p.I453T|ENST00000371764,p.I453T|uc002xuh.3,p.I453T protein_coding, processed_transcript uc002xuh.3 nonsynonymous SNV exon11 c.T1358C p.I453T RIRPNREGDREAIVAALLTRTFTDH RIRPNREGDREATVAALLTRTFTDH 10.0 8.0 - - 4180_20:47850238-47850238 T>C_RIRPNREGDREATVAALLTRTFTDH 0.0 9:1056832-1056832 T>G 1.0 3678 MELANOMA - - - - DMRT2 NM_181872,p.S415R|uc003zha.3,p.S415R|ENST00000302441,p.S415R|ENST00000358146,p.S415R|uc011llv.2,p.S415R|uc003zgy.4,p.S259R|ENST00000382251,p.S415R protein_coding uc011llv.2 nonsynonymous SNV exon3 c.T1245G p.S415R VLPHTPEIQTTRSDLQGHQAVPERS VLPHTPEIQTTRRDLQGHQAVPERS 4.0 9.0 - - 3678_9:1056832-1056832 T>G_VLPHTPEIQTTRRDLQGHQAVPERS 0.0 12:121880168-121880168 G>T 1.0 4252 COLORECTAL - - - - KDM2B uc010szx.2,p.P274T|uc001uaq.3,p.P466T|uc010szy.2,p.P466T|NM_001005366,p.P957T|uc021rfe.1,p.P1026T|ENST00000542973,p.P394T|ENST00000377071,p.P1026T|uc021rfd.1,p.P957T|ENST00000377069,p.P957T|NM_032590,p.P1026T|uc001uao.3,p.P274T|uc001uas.3,p.P957T|uc001uat.3,p.P1026T|uc001uar.3,p.P617T retained_intron, protein_coding, nonsense_mediated_decay uc021rfe.1 nonsynonymous SNV exon19 c.C3076A p.P1026T PSLRSPPRVISRPPPSVSPPKCIQM PSLRSPPRVISRTPPSVSPPKCIQM 7.0 9.0 - - 4252_12:121880168-121880168 G>T_PSLRSPPRVISRTPPSVSPPKCIQM 0.0 6:43155493-43155493 G>A 1.0 3713 MELANOMA - - - - CUL9 uc003ouk.3,p.E542K|NM_015089,p.E542K|uc003oul.3,p.E542K|ENST00000252050,p.E542K|uc003ouj.1,p.E432K|ENST00000372647,p.E542K|ENST00000354495,p.E432K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003oul.3 nonsynonymous SNV exon7 c.G1624A p.E542K GEKALGEISVSVEMAESLLQVLSSR GEKALGEISVSVKMAESLLQVLSSR 8.0 9.0 - - 3713_6:43155493-43155493 G>A_GEKALGEISVSVKMAESLLQVLSSR 0.0 12:12977591-12977591 G>C 0.0 4110 BILE DUCT - - - - DDX47 ENST00000352940,p.D290H|uc001ray.3,p.D290H|NM_201224,p.D290H|ENST00000358007,p.D339H|NM_016355,p.D339H|uc001rax.3,p.D339H|uc001rav.3,p.D339H retained_intron, protein_coding, processed_transcript uc001ray.3 nonsynonymous SNV exon8 c.G868C p.D290H LDIPHVDVVVNFDIPTHSKDYIHRV LDIPHVDVVVNFHIPTHSKDYIHRV 10.0 6.0 - - 4110_12:12977591-12977591 G>C_LDIPHVDVVVNFHIPTHSKDYIHRV 0.0 6:31498645-31498645 T>C 1.0 4287 COLORECTAL - - - - DDX39B uc003ntu.3,p.E394G|uc003ntr.3,p.E201G|uc003ntt.3,p.E394G|ENST00000458640,p.E394G|uc011dnn.2,p.E316G|ENST00000417556,p.E409G|ENST00000415382,p.E316G|ENST00000396172,p.E394G|NM_080598,p.E394G|uc003ntv.3,p.E394G|NM_004640,p.E394G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011dnn.2 nonsynonymous SNV exon8 c.A947G p.E316G GTKGLAITFVSDENDAKILNDVQDR GTKGLAITFVSDGNDAKILNDVQDR 10.0 1.0 - - 4287_6:31498645-31498645 T>C_GTKGLAITFVSDGNDAKILNDVQDR 0.0 11:58384671-58384671 G>A 1.0 4234 NSCLC - - ID=COSM543754,COSM543755;OCCURENCE=1(lung) - ZFP91 ENST00000316059,p.C402Y|ENST00000389919,p.C402Y|uc001nmy.4,p.C401Y|NM_053023,p.C402Y|uc001nmx.4,p.C402Y|ENST00000422974,p.C229Y|NM_001197051,p.C401Y protein_coding uc001nmy.4 nonsynonymous SNV exon11 c.G1202A p.C401Y HRMIHTGEKPLQCEICGFTCRQKAS HRMIHTGEKPLQYEICGFTCRQKAS 8.0 1.0 - - 4234_11:58384671-58384671 G>A_HRMIHTGEKPLQYEICGFTCRQKAS 0.0 6:152605135-152605135 G>A 0.0 4287 COLORECTAL 0.0009 - - - SYNE1 uc003qos.4,p.S586L|ENST00000448038,p.S5991L|ENST00000265368,p.S6062L|ENST00000423061,p.S5991L|uc003qot.4,p.S5991L|uc003qou.4,p.S6062L|NM_033071,p.S5991L|ENST00000367255,p.S6062L|ENST00000356820,p.S586L|ENST00000341594,p.S5674L|uc010kiy.1,p.S241L|NM_182961,p.S6062L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010kiy.1 nonsynonymous SNV exon4 c.C722T p.S241L LAERMSTIRMKASGKRQLLEEKLND LAERMSTIRMKALGKRQLLEEKLND 7.0 10.0 - - 4287_6:152605135-152605135 G>A_LAERMSTIRMKALGKRQLLEEKLND 0.0 20:36718267-36718267 C>T 1.0 4000 MELANOMA - - - - RPRD1B ENST00000373433,p.S324L|NM_021215,p.S324L|uc002xho.4,p.S324L protein_coding, processed_transcript, nonsense_mediated_decay uc002xho.4 nonsynonymous SNV exon7 c.C971T p.S324L GLAPLPSAGDLFSTD GLAPLPSAGDLFLTD 9.0 9.0 - - 4000_20:36718267-36718267 C>T_GLAPLPSAGDLFLTD 0.0 11:5758263-5758263 G>A 0.0 3903 MELANOMA - - - - OR56B1 uc001mbs.1,p.A173T|ENST00000317121,p.A173T|uc009yev.1,p.A173T|uc001mbt.2,p.A173T|NM_001005180,p.A173T protein_coding uc009yev.1 nonsynonymous SNV exon4 c.G517A p.A173T NGLFVTPVPVLAAQRDYCSKNEIEH NGLFVTPVPVLATQRDYCSKNEIEH 1.0 4.0 - - 3903_11:5758263-5758263 G>A_NGLFVTPVPVLATQRDYCSKNEIEH 0.0 19:19737867-19737867 G>A 1.0 4284 COLORECTAL - - - - LPAR2 ENST00000407877,p.A76V|ENST00000542587,p.A76V|NM_004720,p.A76V|uc002nnc.4,p.A76V|uc002nna.4,p.A76V|uc002nnb.4,p.A76V|ENST00000586703,p.A76V retained_intron, protein_coding, processed_transcript uc002nnc.4 nonsynonymous SNV exon5 c.C227T p.A76V HQPIYYLLGNLAAADLFAGVAYLFL HQPIYYLLGNLAVADLFAGVAYLFL 6.0 3.0 - - 4284_19:19737867-19737867 G>A_HQPIYYLLGNLAVADLFAGVAYLFL 0.0 17:30348680-30348680 T>G 0.0 4245 COLORECTAL - - - - LRRC37B uc031qzt.1,p.L90R|ENST00000327564,p.L199R|ENST00000341671,p.L172R|ENST00000394713,p.L172R|uc002hgu.3,p.L172R|uc010csu.3,p.L172R|uc010wbx.2,p.L90R|ENST00000583342,p.L154R|ENST00000578674,p.L184R|uc031qzs.1,p.L90R|ENST00000543378,p.L90R|ENST00000584368,p.L184R|NM_052888,p.L172R|uc031qzu.1,p.L90R|ENST00000579206,p.L90R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031qzu.1 nonsynonymous SNV exon1 c.T269G p.L90R LDRAAGHQADEILVPLDSKVSRPTK LDRAAGHQADEIRVPLDSKVSRPTK 8.0 2.0 - - 4245_17:30348680-30348680 T>G_LDRAAGHQADEIRVPLDSKVSRPTK 0.0 1:228433168-228433168 A>G 1.0 4258 ENDOMETRIAL - - - - OBSCN uc009xez.2,p.E1179G|uc001hsn.4,p.E1179G|ENST00000422127,p.E1179G|ENST00000284548,p.E1179G|NM_052843,p.E1179G|ENST00000570156,p.E1271G|NM_001271223,p.E1271G|NM_001098623,p.E1179G|uc001hsq.2,p.E1271G retained_intron, protein_coding, processed_transcript uc009xez.2 nonsynonymous SNV exon12 c.A3536G p.E1179G AKEQSVHNEVQAEAGTTAMLSCEVA AKEQSVHNEVQAGAGTTAMLSCEVA 8.0 9.0 - - 4258_1:228433168-228433168 A>G_AKEQSVHNEVQAGAGTTAMLSCEVA 0.0 10:71007193-71007193 C>T 1.0 4244 COLORECTAL - - - - HKDC1 ENST00000354624,p.A370V|uc010qje.2,p.A233V|uc001jpf.4,p.A370V|NM_025130,p.A370V|ENST00000395086,p.A370V protein_coding, processed_transcript uc010qje.2 nonsynonymous SNV exon6 c.C698T p.A233V DLGLEPSEADCIAVQHVCTIVSFRS DLGLEPSEADCIVVQHVCTIVSFRS 9.0 9.0 - - 4244_10:71007193-71007193 C>T_DLGLEPSEADCIVVQHVCTIVSFRS 0.0 14:88883081-88883081 C>T 1.0 4345 COLORECTAL - - - - SPATA7 uc001xws.3,p.L25F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001xws.3 nonsynonymous SNV exon4 c.C73T p.L25F PRIDADQQRREKLKKELAQCEKEFK PRIDADQQRREKFKKELAQCEKEFK 6.0 9.0 - - 4345_14:88883081-88883081 C>T_PRIDADQQRREKFKKELAQCEKEFK 0.0 X:17819221-17819221 G>A 1.0 4252 COLORECTAL - - - - RAI2 NM_001172739,p.R304C|NM_001172743,p.R304C|uc022btm.1,p.R304C|ENST00000415486,p.R254C|uc011miy.2,p.R254C|ENST00000545871,p.R304C|ENST00000360011,p.R304C|NM_021785,p.R304C|ENST00000451717,p.R304C|uc022btl.1,p.R304C|ENST00000331511,p.R304C|uc010nfa.3,p.R304C|uc004cyf.3,p.R304C|uc004cyh.4,p.R304C|NM_001172732,p.R254C|uc004cyg.3,p.R304C protein_coding uc022btm.1 nonsynonymous SNV exon1 c.C910T p.R304C DILQPKEYFQLSRHTVIKMGSENEA DILQPKEYFQLSCHTVIKMGSENEA 7.0 10.0 - - 4252_X:17819221-17819221 G>A_DILQPKEYFQLSCHTVIKMGSENEA 0.0 12:123498588-123498588 T>C 1.0 3713 MELANOMA - - - - PITPNM2 ENST00000542210,p.K27R|ENST00000280562,p.K27R|ENST00000542749,p.K27R|NM_001300801,p.K27R|ENST00000392428,p.K27R|uc001uek.1,p.K27R|NM_020845,p.K27R|uc009zxu.1,p.K27R|ENST00000546049,p.K27R|ENST00000320201,p.K27R|uc001uej.1,p.K27R retained_intron, protein_coding, processed_transcript uc009zxu.1 nonsynonymous SNV exon3 c.A80G p.K27R EEYRIAQLYMIQKKSRNETYGEGSG EEYRIAQLYMIQRKSRNETYGEGSG 4.0 8.0 - - 3713_12:123498588-123498588 T>C_EEYRIAQLYMIQRKSRNETYGEGSG 0.0 5:179397438-179397438 A>C 1.0 4246 COLORECTAL - - - - RNF130 uc003mll.1,p.L306R|NM_001280801,p.L306R|ENST00000522208,p.L306R|uc003mlm.1,p.L306R|NM_018434,p.L306R|ENST00000521389,p.L306R|ENST00000261947,p.L306R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003mlm.1 nonsynonymous SNV exon6 c.T917G p.L306R WLSEHCTCPMCKLNILKALGIVPNL WLSEHCTCPMCKRNILKALGIVPNL 9.0 4.0 - - 4246_5:179397438-179397438 A>C_WLSEHCTCPMCKRNILKALGIVPNL 0.0 12:53585355-53585355 G>C 0.0 4317 COLORECTAL - - - - ITGB7 NM_000889,p.D794E|ENST00000550743,p.D646E|ENST00000267082,p.D794E|ENST00000338737,p.D646E|ENST00000422257,p.D794E|uc009zmv.3,p.D794E|uc001scc.3,p.D794E retained_intron, protein_coding, nonsense_mediated_decay uc009zmv.3 nonsynonymous SNV exon15 c.C2382G p.D794E ITTTINPRFQEADSPTL ITTTINPRFQEAESPTL 4.0 4.0 - - 4317_12:53585355-53585355 G>C_ITTTINPRFQEAESPTL 0.0 6:144184421-144184421 A>G 1.0 4335 COLORECTAL - - - - LTV1 uc003qjs.3,p.K439E|NM_032860,p.K439E|ENST00000367576,p.K439E protein_coding uc003qjs.3 nonsynonymous SNV exon10 c.A1315G p.K439E KRARKQAIKEERKERRVEKKANKLA KRARKQAIKEEREERRVEKKANKLA 8.0 3.0 - - 4335_6:144184421-144184421 A>G_KRARKQAIKEEREERRVEKKANKLA 0.0 7:103841402-103841402 G>T 1.0 2591 MELANOMA - - - - ORC5 NM_002553,p.P57Q|ENST00000297431,p.P57Q|ENST00000447452,p.P57Q|NM_181747,p.P57Q|uc003vcc.3,p.P57Q|uc003vcb.3,p.P57Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003vcc.3 nonsynonymous SNV exon3 c.C170A p.P57Q YVTQTLLKTLELPHVFVNCVECFTL YVTQTLLKTLELQHVFVNCVECFTL 8.0 8.0 - - 2591_7:103841402-103841402 G>T_YVTQTLLKTLELQHVFVNCVECFTL 0.0 12:130926714-130926714 C>T 0.0 4316 COLORECTAL - - - - RIMBP2 NM_015347,p.D378N|ENST00000535703,p.D286N|uc001uim.3,p.D286N|uc001uil.2,p.D378N|ENST00000536002,p.D286N|ENST00000261655,p.D378N retained_intron, protein_coding, nonsense_mediated_decay uc001uim.3 nonsynonymous SNV exon12 c.G856A p.D286N ISVQCVTSRGSSDELQCTLLVGKDV ISVQCVTSRGSSNELQCTLLVGKDV 3.0 10.0 - - 4316_12:130926714-130926714 C>T_ISVQCVTSRGSSNELQCTLLVGKDV 0.0 6:30609962-30609962 G>A 1.0 4189 MELANOMA - - - - ATAT1 ENST00000319027,p.R198K|ENST00000376478,p.R198K|NM_001254952,p.R198K|uc003rdd.3,p.R198K|ENST00000318999,p.R198K|uc011dmm.2,p.R186K|uc003nqs.4,p.R198K retained_intron, protein_coding, processed_transcript uc011dmm.2 nonsynonymous SNV exon8 c.G557A p.R186K FEGFFAHQHPPARKLPPKRAEGDIK FEGFFAHQHPPAKKLPPKRAEGDIK 7.0 4.0 - - 4189_6:30609962-30609962 G>A_FEGFFAHQHPPAKKLPPKRAEGDIK 0.0 3:98531290-98531290 G>A 0.0 4345 COLORECTAL - - - - DCBLD2 ENST00000326857,p.R417C|uc003dte.3,p.R417C|NM_080927,p.R417C|uc003dtd.3,p.R417C|ENST00000326840,p.R417C retained_intron, protein_coding, processed_transcript uc003dte.3 nonsynonymous SNV exon10 c.C1249T p.R417C IFQGNKDYHQDVRNNFLPPIIARFI IFQGNKDYHQDVCNNFLPPIIARFI 5.0 10.0 - - 4345_3:98531290-98531290 G>A_IFQGNKDYHQDVCNNFLPPIIARFI 0.0 5:140250882-140250882 G>T 0.0 4213 COLORECTAL - - - - PCDHA11 NM_031861,p.A732S|uc011dae.2,p.A732S|NM_018902,p.A732S|ENST00000398640,p.A732S|uc003lia.2,p.A732S protein_coding uc011dae.2 nonsynonymous SNV exon1 c.G2194T p.A732S LWWSATPTEGACAPGKPTLVCSRAV LWWSATPTEGACSPGKPTLVCSRAV 2.0 6.0 - - 4213_5:140250882-140250882 G>T_LWWSATPTEGACSPGKPTLVCSRAV 0.0 1:53099220-53099220 T>C 0.0 4335 COLORECTAL - - - - FAM159A uc001cuf.3,p.F19L|ENST00000517870,p.F19L|NM_001042693,p.F19L protein_coding, processed_transcript uc001cuf.3 nonsynonymous SNV exon1 c.T55C p.F19L SYVSAEQEVVRGFSCPRPGGEAAAV SYVSAEQEVVRGLSCPRPGGEAAAV 5.0 10.0 - - 4335_1:53099220-53099220 T>C_SYVSAEQEVVRGLSCPRPGGEAAAV 0.0 14:105414683-105414683 G>C 0.0 4186 BREAST - - - - AHNAK2 NM_138420,p.Q2369E|uc001ypx.2,p.Q2269E|ENST00000333244,p.Q2369E|uc010axc.1,p.Q2369E retained_intron, protein_coding uc010axc.1 nonsynonymous SNV exon7 c.C7105G p.Q2369E MQGDLKTTDLSVQPPSADLEVQAGQ MQGDLKTTDLSVEPPSADLEVQAGQ 5.0 4.0 - - 4186_14:105414683-105414683 G>C_MQGDLKTTDLSVEPPSADLEVQAGQ 0.0 3:16216668-16216668 A>G 0.0 4284 COLORECTAL - - - - GALNT15 ENST00000437509,p.R4G|ENST00000339732,p.R4G|uc003car.4,p.R4G|NM_054110,p.R4G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003car.4 nonsynonymous SNV exon1 c.A10G p.R4G MLLRKRYRHRPCRLQF MLLGKRYRHRPCRLQF 3.0 6.0 - - 4284_3:16216668-16216668 A>G_MLLGKRYRHRPCRLQF 0.0 1:206634592-206634592 G>T 1.0 4252 COLORECTAL - - - - SRGAP2 ENST00000414007,p.A875S protein_coding, processed_transcript ENST00000414007 nonsynonymous SNV exon19 c.G2623T p.A875S DPEPAFQRSASTAGDIACAFRPVKS DPEPAFQRSASTSGDIACAFRPVKS 7.0 9.0 - - 4252_1:206634592-206634592 G>T_DPEPAFQRSASTSGDIACAFRPVKS 0.0 3:48629387-48629387 G>A 1.0 3713 MELANOMA - - - - COL7A1 NM_000094,p.S434F|ENST00000454817,p.S434F|ENST00000328333,p.S434F|uc003ctz.2,p.S434F retained_intron, protein_coding, processed_transcript uc003ctz.2 nonsynonymous SNV exon10 c.C1301T p.S434F RPVILGPTSILLSWNLVPEARGYRL RPVILGPTSILLFWNLVPEARGYRL 4.0 7.0 - - 3713_3:48629387-48629387 G>A_RPVILGPTSILLFWNLVPEARGYRL 0.0 12:125609519-125609519 G>A 1.0 3713 MELANOMA - - - - AACS uc001uhc.3,p.E420K|ENST00000538851,p.E85K|ENST00000316543,p.E18K|uc001uhd.3,p.E420K|NM_023928,p.E420K|ENST00000441247,p.E239K|ENST00000316519,p.E420K|uc009zyi.3,p.E18K|ENST00000261686,p.E420K protein_coding, processed_transcript, nonsense_mediated_decay uc009zyi.3 nonsynonymous SNV exon5 c.G52A p.E18K LSTGSPLKAQSYEYVYRCIKSSILL LSTGSPLKAQSYKYVYRCIKSSILL 3.0 9.0 - - 3713_12:125609519-125609519 G>A_LSTGSPLKAQSYKYVYRCIKSSILL 0.0 19:15222529-15222529 G>C 0.0 4335 COLORECTAL - - - - SYDE1 uc002nai.1,p.D435H|uc002nah.1,p.D502H|NM_033025,p.D502H|ENST00000600252,p.D159H|ENST00000342784,p.D502H|uc002naj.1,p.D159H|NM_001300910,p.D435H|ENST00000600440,p.D435H protein_coding uc002naj.1 nonsynonymous SNV exon3 c.G475C p.D159H PLYKVVLEAMARDPPNRVPPTTEGT PLYKVVLEAMARHPPNRVPPTTEGT 5.0 4.0 - - 4335_19:15222529-15222529 G>C_PLYKVVLEAMARHPPNRVPPTTEGT 0.0 10:105793790-105793790 C>T 0.0 3775 CERVICAL - - - - COL17A1 ENST00000369733,p.A1275T|NM_000494,p.A1357T|uc001kxr.3,p.A1357T|ENST00000353479,p.A1357T retained_intron, protein_coding, processed_transcript uc001kxr.3 nonsynonymous SNV exon52 c.G4069A p.A1357T GGYGAAAEGGMYAGNGGLLGADFAG GGYGAAAEGGMYTGNGGLLGADFAG 1.0 4.0 - - 3775_10:105793790-105793790 C>T_GGYGAAAEGGMYTGNGGLLGADFAG 0.0 9:35107394-35107394 G>A 1.0 3919 MELANOMA - - - - FAM214B uc022bgj.1,p.P293L protein_coding, processed_transcript uc022bgj.1 nonsynonymous SNV exon1 c.C878T p.P293L KATPFWSHLLPGPKEPVLVSQ KATPFWSHLLPGLKEPVLVSQ 7.0 10.0 - - 3919_9:35107394-35107394 G>A_KATPFWSHLLPGLKEPVLVSQ 0.0 4:155411540-155411540 C>T 0.0 4287 COLORECTAL - - - - DCHS2 NM_001142552,p.R323H|ENST00000339452,p.R323H|uc011cik.1,p.R323H|ENST00000456341,p.R316H|ENST00000443500,p.R323H|uc003inx.2,p.R323H protein_coding, processed_transcript uc011cik.1 nonsynonymous SNV exon1 c.G968A p.R323H PGAEVCRVRATDRDLGPNGFVRYSV PGAEVCRVRATDHDLGPNGFVRYSV 2.0 9.0 - - 4287_4:155411540-155411540 C>T_PGAEVCRVRATDHDLGPNGFVRYSV 0.0 1:169824055-169824055 C>T 1.0 4252 COLORECTAL - - - - SCYL3 uc001ggs.3,p.V509I|NM_181093,p.V509I|NM_020423,p.V455I|uc001ggt.3,p.V455I|ENST00000367771,p.V455I|ENST00000367770,p.V509I|ENST00000423670,p.V455I|ENST00000367772,p.V509I|uc010plw.2,p.V101I protein_coding, processed_transcript uc010plw.2 nonsynonymous SNV exon7 c.G301A p.V101I QPIKFPINGLSDVKNTSEDSENFPS QPIKFPINGLSDIKNTSEDSENFPS 7.0 8.0 - - 4252_1:169824055-169824055 C>T_QPIKFPINGLSDIKNTSEDSENFPS 0.0 16:2814041-2814041 C>T 1.0 4158 COLORECTAL - - - - SRRM2 uc010bsu.1,p.P1075L|uc002crk.3,p.P1171L|uc002crl.1,p.P1171L|NM_016333,p.P1171L|ENST00000301740,p.P1171L|uc002crj.1,p.P1075L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010bsu.1 nonsynonymous SNV exon10 c.C3224T p.P1075L LETAESKEKMALPPQEDATASPPRQ LETAESKEKMALLPQEDATASPPRQ 10.0 10.0 - - 4158_16:2814041-2814041 C>T_LETAESKEKMALLPQEDATASPPRQ 0.0 19:41622492-41622492 C>T 0.0 2591 MELANOMA - - - - CYP2F1 uc002opu.1,p.P102S|ENST00000331105,p.P102S|NM_000774,p.P102S|ENST00000532164,p.P102S|uc010xvv.1,p.P102S retained_intron, protein_coding, nonsense_mediated_decay, non_stop_decay uc010xvv.1 nonsynonymous SNV exon3 c.C304T p.P102S DQGEEFSGRGDYPAFFNFTKGNGIA DQGEEFSGRGDYSAFFNFTKGNGIA 1.0 9.0 - - 2591_19:41622492-41622492 C>T_DQGEEFSGRGDYSAFFNFTKGNGIA 0.0 2:172935770-172935770 C>T 1.0 3713 MELANOMA - - - - METAP1D NM_199227,p.P226S|ENST00000315796,p.P226S|uc010zdw.2,p.P108S|uc002uhk.3,p.P226S protein_coding, processed_transcript uc010zdw.2 nonsynonymous SNV exon6 c.C322T p.P108S RDEAIAACRAGAPFSVIGNTISHIT RDEAIAACRAGASFSVIGNTISHIT 8.0 4.0 - - 3713_2:172935770-172935770 C>T_RDEAIAACRAGASFSVIGNTISHIT 0.0 12:25380276-25380276 T>A 1.0 4126 NSCLC - - ID=COSM1140131,COSM553;OCCURENCE=15(lung),2(thyroid),2(haematopoietic_and_lymphoid_tissue),1(stomach),1(small_intestine),1(breast),4(skin),3(biliary_tract),52(large_intestine),1(kidney),2(pancreas),2(urinary_tract),1(soft_tissue),3(endometrium),1(salivary_gland) 1 KRAS NM_004985,p.Q61L|NM_033360,p.Q61L|uc001rgp.1,p.Q61L|ENST00000311936,p.Q61L|ENST00000256078,p.Q61L|uc001rgq.1,p.Q61L protein_coding uc001rgq.1 nonsynonymous SNV exon3 c.A182T p.Q61L ETCLLDILDTAGQEEYSAMRDQYMR ETCLLDILDTAGLEEYSAMRDQYMR 7.0 7.0 - - 4126_12:25380276-25380276 T>A_ETCLLDILDTAGLEEYSAMRDQYMR 0.0 14:105177483-105177483 C>T 1.0 3795 MELANOMA - - - - INF2 ENST00000252527,p.S261F|ENST00000330634,p.S793F|ENST00000392634,p.S793F|NM_001031714,p.S793F|uc001ypb.2,p.S793F|uc001ypc.2,p.S793F|NM_022489,p.S793F retained_intron, protein_coding, nonsense_mediated_decay uc001ypc.2 nonsynonymous SNV exon15 c.C2378T p.S793F KISTLLKLTETKSQQNRVTLLHHVL KISTLLKLTETKFQQNRVTLLHHVL 8.0 8.0 - - 3795_14:105177483-105177483 C>T_KISTLLKLTETKFQQNRVTLLHHVL 0.0 12:80735917-80735917 G>A 0.0 4301 MELANOMA - - - - OTOGL NM_173591,p.R1738K|uc001szd.3,p.R1738K|ENST00000458043,p.R1738K|ENST00000547103,p.R1726K protein_coding, nonsense_mediated_decay uc001szd.3 nonsynonymous SNV exon43 c.G5213A p.R1738K HDCSQCIDLLNRRIFIPCHDKVSPE HDCSQCIDLLNRKIFIPCHDKVSPE 4.0 1.0 - - 4301_12:80735917-80735917 G>A_HDCSQCIDLLNRKIFIPCHDKVSPE 0.0 8:145660239-145660239 G>A 1.0 3466 MELANOMA - - - - TONSL ENST00000409379,p.P1014S|uc011llg.2,p.P1014S|NM_013432,p.P1014S retained_intron, protein_coding uc011llg.2 nonsynonymous SNV exon20 c.C3040T p.P1014S EVLAEVTSWDLPPLTDRYRRACQSL EVLAEVTSWDLPSLTDRYRRACQSL 3.0 8.0 - - 3466_8:145660239-145660239 G>A_EVLAEVTSWDLPSLTDRYRRACQSL 0.0 2:39964067-39964067 ->T 1.0 4078 GASTRIC - - - - THUMPD2 uc002rru.2,p.K440fs|ENST00000505747,p.K440fs|ENST00000260619,p.K410fs|uc010ynt.1,p.K331fs|NM_025264,p.K440fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ynt.1 frameshift insertion exon10 c.992dupA p.K331fs SKDSHTDEPGIKKCLNPEEKTGAFK SKDSHTDEPGIKKVLES 8.0 1.0 - - 4078_2:39964067-39964067 ->T_SKDSHTDEPGIKKVLES 0.0 11:108264079-108264079 T>G 1.0 4284 COLORECTAL - - - - C11orf65 ENST00000525729,p.K147T|ENST00000529391,p.K196T|ENST00000533583,p.K178T|NM_152587,p.K196T|uc010rvx.1,p.K147T|ENST00000393084,p.K196T|ENST00000527531,p.K196T|uc001pkh.3,p.K196T protein_coding, processed_transcript, nonsense_mediated_decay uc010rvx.1 nonsynonymous SNV exon5 c.A440C p.K147T MRQMYYSGSLEAKSTHHETLGLIHT MRQMYYSGSLEATSTHHETLGLIHT 4.0 6.0 - - 4284_11:108264079-108264079 T>G_MRQMYYSGSLEATSTHHETLGLIHT 0.0 9:135976958-135976958 G>A 1.0 3784 MELANOMA - - - 2 RALGDS uc004ccv.1,p.H629Y protein_coding, processed_transcript uc004ccv.1 nonsynonymous SNV exon11 c.C1885T p.H629Y AALQPAGGRLLYHPRQPGRGQWQHV AALQPAGGRLLYYPRQPGRGQWQHV 8.0 3.0 - - 3784_9:135976958-135976958 G>A_AALQPAGGRLLYYPRQPGRGQWQHV 0.0 19:22940516-22940516 G>A 1.0 4317 COLORECTAL - - - - ZNF99 NM_001080409,p.P732L|uc021urt.1,p.P732L|ENST00000397104,p.P641L|ENST00000596209,p.P732L protein_coding uc021urt.1 nonsynonymous SNV exon4 c.C2195T p.P732L LRKHEIIHTGEKPYKCEECGKAFKW LRKHEIIHTGEKLYKCEECGKAFKW 5.0 8.0 - - 4317_19:22940516-22940516 G>A_LRKHEIIHTGEKLYKCEECGKAFKW 0.0 1:39976857-39976857 C>T 0.0 4252 COLORECTAL - - - - BMP8A uc001cdi.3,p.R116C|ENST00000331593,p.R116C|NM_181809,p.R116C protein_coding uc001cdi.3 nonsynonymous SNV exon2 c.C346T p.R116C LVMSFVNMVERDRALGHQEPHWKEF LVMSFVNMVERDCALGHQEPHWKEF 4.0 10.0 - - 4252_1:39976857-39976857 C>T_LVMSFVNMVERDCALGHQEPHWKEF 0.0 5:145317829-145317829 C>T 1.0 3466 MELANOMA - - - - SH3RF2 NM_152550,p.P113L|uc011dbl.1,p.P113L|ENST00000359120,p.P113L|uc003lnt.3,p.P113L|ENST00000511217,p.P113L retained_intron, protein_coding, processed_transcript uc011dbl.1 nonsynonymous SNV exon1 c.C338T p.P113L KSRTNPRRLQASPFRLVPNVRIHMD KSRTNPRRLQASLFRLVPNVRIHMD 3.0 9.0 - - 3466_5:145317829-145317829 C>T_KSRTNPRRLQASLFRLVPNVRIHMD 0.0 20:33519193-33519193 C>T 1.0 3795 MELANOMA - - - - GSS uc010gez.1,p.E83K|ENST00000541098,p.E225K|ENST00000451957,p.E242K|uc010zuo.2,p.E242K|ENST00000216951,p.E353K|uc002xbg.3,p.E353K|uc010zup.2,p.E284K|uc010zun.2,p.E225K|NM_000178,p.E353K protein_coding uc010zup.2 nonsynonymous SNV exon11 c.G850A p.E284K LDVGEEGDQAIAEALAAPSRFVLKP LDVGEEGDQAIAKALAAPSRFVLKP 8.0 5.0 - - 3795_20:33519193-33519193 C>T_LDVGEEGDQAIAKALAAPSRFVLKP 0.0 6:35203231-35203231 C>T 1.0 4298 COLORECTAL - - - - SCUBE3 uc003okh.1,p.R112W|ENST00000394681,p.R241W protein_coding uc003okh.1 nonsynonymous SNV exon6 c.C334T p.R112W LHTDGKTCIGERRLEQHIPTQAVSN LHTDGKTCIGERWLEQHIPTQAVSN 4.0 10.0 - - 4298_6:35203231-35203231 C>T_LHTDGKTCIGERWLEQHIPTQAVSN 0.0 16:70841528-70841528 C>G 0.0 3775 CERVICAL - - - - HYDIN uc031qwy.1,p.E5107D|NM_001270974,p.E5107D|ENST00000393567,p.E5107D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031qwy.1 nonsynonymous SNV exon86 c.G15321C p.E5107D KLTVSCPPGEGSETGVKWVYYLKGI KLTVSCPPGEGSDTGVKWVYYLKGI 2.0 6.0 - - 3775_16:70841528-70841528 C>G_KLTVSCPPGEGSDTGVKWVYYLKGI 0.0 15:65703370-65703370 C>T 0.0 4259 COLORECTAL 0.0014 - - - IGDCC4 uc002aou.1,p.V137I|NM_020962,p.V137I|ENST00000352385,p.V137I retained_intron, protein_coding, processed_transcript uc002aou.1 nonsynonymous SNV exon2 c.G409A p.V137I GPLGVLASQTAVVKLATLADFSLHP GPLGVLASQTAVIKLATLADFSLHP 5.0 4.0 - - 4259_15:65703370-65703370 C>T_GPLGVLASQTAVIKLATLADFSLHP 0.0 22:42385598-42385598 G>T 1.0 2591 MELANOMA - - - - SEPT3 ENST00000396426,p.M193I|ENST00000291236,p.M129I|ENST00000396425,p.M193I|uc011apj.2,p.M129I|uc003bbr.4,p.M193I|ENST00000406029,p.M129I|NM_019106,p.M193I|NM_145733,p.M193I|uc003bbs.4,p.M193I retained_intron, protein_coding, nonsense_mediated_decay uc011apj.2 nonsynonymous SNV exon5 c.G387T p.M129I TGHSLRPLDLEFMKHLSKVVNIIPV TGHSLRPLDLEFIKHLSKVVNIIPV 8.0 9.0 - - 2591_22:42385598-42385598 G>T_TGHSLRPLDLEFIKHLSKVVNIIPV 0.0 2:187540581-187540581 C>T 1.0 3466 MELANOMA - - - 2 ITGAV ENST00000374907,p.S916L|uc002upq.4,p.S952L|uc010zfv.3,p.S906L|uc010frs.4,p.S916L|ENST00000433736,p.S906L|NM_001144999,p.S906L|ENST00000261023,p.S952L|NM_002210,p.S952L|NM_001145000,p.S916L retained_intron, protein_coding, processed_transcript uc010zfv.3 nonsynonymous SNV exon28 c.C2717T p.S906L NKENQNHSYSLKSSASFNVIEFPYK NKENQNHSYSLKLSASFNVIEFPYK 10.0 7.0 - - 3466_2:187540581-187540581 C>T_NKENQNHSYSLKLSASFNVIEFPYK 0.0 11:35454061-35454061 G>A 0.0 4160 COLORECTAL - - ID=COSM926686;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(endometrium) - PAMR1 ENST00000532848,p.A629V|ENST00000278360,p.A686V|uc010rew.2,p.A558V|NM_001282676,p.A558V|ENST00000378878,p.A558V|NM_015430,p.A686V|NM_001282675,p.A629V|NM_001001991,p.A669V|uc001mwf.3,p.A686V|ENST00000378880,p.A669V|uc010rex.2,p.A629V|ENST00000527605,p.A646V|uc001mwg.3,p.A669V retained_intron, protein_coding, processed_transcript uc010rex.2 nonsynonymous SNV exon13 c.C1886T p.A629V PSDICTAETGGIAAVSFPGRASPEP PSDICTAETGGIVAVSFPGRASPEP 4.0 3.0 - - 4160_11:35454061-35454061 G>A_PSDICTAETGGIVAVSFPGRASPEP 0.0 3:36931409-36931409 T>C 1.0 4320 COLORECTAL - - - - TRANK1 NM_014831,p.E229G|uc003cgj.3,p.E229G|ENST00000429976,p.E229G protein_coding, processed_transcript uc003cgj.3 nonsynonymous SNV exon7 c.A686G p.E229G NHLFRWLMDHKPEWKGRINQKDGDG NHLFRWLMDHKPGWKGRINQKDGDG 7.0 2.0 - - 4320_3:36931409-36931409 T>C_NHLFRWLMDHKPGWKGRINQKDGDG 0.0 14:89038472-89038472 G>C 1.0 4126 NSCLC - - - - ZC3H14 uc010twe.2,p.A112P|ENST00000359301,p.A78P|ENST00000393514,p.A112P|ENST00000555120,p.A78P|uc001xwx.3,p.A112P|ENST00000555799,p.A78P|NM_024824,p.A112P|uc010twd.2,p.A112P|NM_001160103,p.A112P|ENST00000302216,p.A112P|NM_001160104,p.A112P|NM_207660,p.A112P|ENST00000251038,p.A112P|uc001xww.3,p.A112P|uc001xwy.3,p.A78P|ENST00000555755,p.A112P|NM_207661,p.A78P|ENST00000557693,p.A78P|ENST00000336693,p.A78P|ENST00000556158,p.A99P|ENST00000556945,p.A112P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010twe.2 nonsynonymous SNV exon5 c.G334C p.A112P SNFSRGDERRHEAAVPPLAIPSARP SNFSRGDERRHEPAVPPLAIPSARP 10.0 7.0 - - 4126_14:89038472-89038472 G>C_SNFSRGDERRHEPAVPPLAIPSARP 0.0 5:59893632-59893632 G>A 0.0 4238 COLORECTAL - - - - DEPDC1B uc011cqm.2,p.A451V|ENST00000265036,p.A513V|ENST00000545085,p.A424V|uc011cqn.2,p.A424V|uc003jsh.3,p.A513V|ENST00000453022,p.A451V|NM_018369,p.A513V|NM_001145208,p.A451V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cqn.2 nonsynonymous SNV exon11 c.C1271T p.A424V EKPKPKPQLLMWALKKPFQPFQRTR EKPKPKPQLLMWVLKKPFQPFQRTR 5.0 4.0 - - 4238_5:59893632-59893632 G>A_EKPKPKPQLLMWVLKKPFQPFQRTR 0.0 16:29917114-29917114 C>T 1.0 2556 MELANOMA - - - - ASPHD1 NM_181718,p.P357S|ENST00000566693,p.P357S|ENST00000563177,p.P76S|uc002dut.3,p.P357S|ENST00000414952,p.P357S|ENST00000483405,p.P76S|ENST00000308748,p.P357S protein_coding, nonsense_mediated_decay uc002dut.3 nonsynonymous SNV exon3 c.C1069T p.P357S DSFLHTVAHNGSPEDGPRVVFIVDL DSFLHTVAHNGSSEDGPRVVFIVDL 5.0 3.0 - - 2556_16:29917114-29917114 C>T_DSFLHTVAHNGSSEDGPRVVFIVDL 0.0 12:123970291-123970291 T>A 1.0 4287 COLORECTAL - - - - RILPL1 uc001ufe.2,p.D288V|NM_178314,p.D288V|uc001ufd.2,p.D137V|ENST00000340724,p.D136V|uc010tas.1,p.D288V|ENST00000376874,p.D288V protein_coding uc010tas.1 nonsynonymous SNV exon5 c.A863T p.D288V ISDAEKVAMDLKDPNRPRFTLQELR ISDAEKVAMDLKVPNRPRFTLQELR 5.0 3.0 - - 4287_12:123970291-123970291 T>A_ISDAEKVAMDLKVPNRPRFTLQELR 0.0 17:7577539-7577539 G>A 1.0 4287 COLORECTAL - - ID=COSM3388183,COSM120007,COSM120006,COSM10656,COSM120005,COSM1640831;OCCURENCE=61(breast),26(skin),9(biliary_tract),144(large_intestine),4(prostate),4(liver),2(kidney),11(pancreas),21(urinary_tract),31(ovary),4(soft_tissue),20(endometrium),20(lung),1(penis),4(thyroid),27(haematopoietic_and_lymphoid_tissue),1(pleura),1(cervix),28(stomach),33(central_nervous_system),45(oesophagus),1(vulva),1(bone),21(upper_aerodigestive_tract),1(NS) 1 TP53 NM_001126118,p.R209W|ENST00000445888,p.R248W|ENST00000420246,p.R248W|NM_001276695,p.R209W|NM_001126112,p.R248W|ENST00000413465,p.R248W|NM_001276761,p.R209W|uc002gih.3,p.R248W|uc010cng.2,p.R89W|NM_001276699,p.R89W|ENST00000509690,p.R116W|NM_001276760,p.R209W|NM_001276696,p.R209W|NM_001276698,p.R89W|ENST00000455263,p.R248W|ENST00000269305,p.R248W|ENST00000359597,p.R248W|NM_001126113,p.R248W|NM_000546,p.R248W|uc010cnf.2,p.R89W|uc031qyq.1,p.R209W|NM_001126114,p.R248W|NM_001126116,p.R116W|NM_001126115,p.R116W|uc002gij.3,p.R209W|NM_001126117,p.R116W|uc002gii.2,p.R89W|uc002gin.3,p.R155W|uc002gig.1,p.R248W|uc002gio.3,p.R116W|NM_001276697,p.R89W retained_intron, protein_coding, processed_transcript uc031qyq.1 nonsynonymous SNV exon6 c.C625T p.R209W YMCNSSCMGGMNRRPILTIITLEDS YMCNSSCMGGMNWRPILTIITLEDS 10.0 10.0 - - 4287_17:7577539-7577539 G>A_YMCNSSCMGGMNWRPILTIITLEDS 0.0 3:75787470-75787470 T>G 0.0 4345 COLORECTAL - - - - ZNF717 uc011bgi.2,p.K435T|NM_001290208,p.K435T|NM_001290209,p.K385T|ENST00000478296,p.K385T|ENST00000400845,p.K428T|NM_001128223,p.K435T|ENST00000422325,p.K435T protein_coding, processed_transcript uc011bgi.2 nonsynonymous SNV exon5 c.A1304C p.K435T YACDHCEEAFSHKSRLTVHQRTHTG YACDHCEEAFSHTSRLTVHQRTHTG 4.0 8.0 - - 4345_3:75787470-75787470 T>G_YACDHCEEAFSHTSRLTVHQRTHTG 0.0 2:55756046-55756046 T>G 1.0 4071 COLORECTAL - - - - CFAP36 ENST00000339012,p.D130E|uc002ryx.2,p.D130E|uc002ryy.2,p.D105E|ENST00000349456,p.D105E|ENST00000407816,p.D105E|ENST00000406691,p.D105E|NM_001282761,p.D130E|ENST00000403007,p.D105E|NM_080667,p.D105E retained_intron, protein_coding, processed_transcript uc002ryy.2 nonsynonymous SNV exon4 c.T315G p.D105E SQAILQPVLAAEDFTIFKAMMVQKN SQAILQPVLAAEEFTIFKAMMVQKN 6.0 5.0 - - 4071_2:55756046-55756046 T>G_SQAILQPVLAAEEFTIFKAMMVQKN 0.0 21:34399460-34399460 A>G 1.0 3903 MELANOMA - - - 1 OLIG2 uc002yqx.2,p.D97G|NM_005806,p.D97G|ENST00000382357,p.D97G|ENST00000333337,p.D97G|uc021wil.1,p.D97G protein_coding uc021wil.1 nonsynonymous SNV exon1 c.A290G p.D97G STSSAAASSTKKDKKQMTEPELQQL STSSAAASSTKKGKKQMTEPELQQL 8.0 3.0 - - 3903_21:34399460-34399460 A>G_STSSAAASSTKKGKKQMTEPELQQL 0.0 7:883269-883269 C>T 1.0 4000 MELANOMA - - - - SUN1 uc010ksa.1,p.P278L|uc021zyl.1,p.P257L|ENST00000403868,p.P257L|ENST00000457378,p.P278L|NM_001171945,p.P278L|NM_001171946,p.P257L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021zyl.1 nonsynonymous SNV exon6 c.C770T p.P257L CLHYLSWRLKIIP CLHYLSWRLKIIL 10.0 6.0 - - 4000_7:883269-883269 C>T_CLHYLSWRLKIIL 0.0 9:136672418-136672418 T>G 1.0 4320 COLORECTAL - - - - VAV2 uc004cer.3,p.S228R|uc004ces.3,p.S233R|ENST00000406606,p.S228R|ENST00000371850,p.S233R|NM_003371,p.S228R|NM_001134398,p.S233R|ENST00000371851,p.S228R protein_coding, processed_transcript uc004ces.3 nonsynonymous SNV exon8 c.A697C p.S233R EKNYMSPLRLVLSPADMAAVFINLE EKNYMSPLRLVLRPADMAAVFINLE 8.0 8.0 - - 4320_9:136672418-136672418 T>G_EKNYMSPLRLVLRPADMAAVFINLE 0.0 8:61761647-61761647 G>A 1.0 3775 CERVICAL - - - - CHD7 uc003xue.3,p.E1780K|ENST00000423902,p.E1780K|NM_017780,p.E1780K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003xue.3 nonsynonymous SNV exon25 c.G5338A p.E1780K EADVWIPEPFHAEVPADWWDKEADK EADVWIPEPFHAKVPADWWDKEADK 5.0 8.0 - - 3775_8:61761647-61761647 G>A_EADVWIPEPFHAKVPADWWDKEADK 0.0 9:118949469-118949469 G>A 0.0 3998 MELANOMA - - - - PAPPA ENST00000328252,p.R151Q|NM_002581,p.R151Q|uc004bjn.3,p.R151Q protein_coding, processed_transcript uc004bjn.3 nonsynonymous SNV exon2 c.G452A p.R151Q GLYDKCSYISRDRGWVVGIHTISDQ GLYDKCSYISRDQGWVVGIHTISDQ 3.0 9.0 - - 3998_9:118949469-118949469 G>A_GLYDKCSYISRDQGWVVGIHTISDQ 0.0 20:23066220-23066220 G>A 0.0 2591 MELANOMA - - ID=COSM1721668;OCCURENCE=2(NS) - CD93 NM_012072,p.P204S|uc002wsv.3,p.P204S|ENST00000246006,p.P204S protein_coding uc002wsv.3 nonsynonymous SNV exon1 c.C610T p.P204S ALGGPGQVTYTTPFQTTSSSLEAVP ALGGPGQVTYTTSFQTTSSSLEAVP 1.0 7.0 - - 2591_20:23066220-23066220 G>A_ALGGPGQVTYTTSFQTTSSSLEAVP 0.0 6:13977957-13977957 T>G 0.0 4186 BREAST - - - - RNF182 ENST00000544682,p.L203V|uc003nbe.3,p.L203V|NM_152737,p.L203V|NM_001165033,p.L203V|ENST00000488300,p.L203V|NM_001165032,p.L203V|uc003nbf.3,p.L203V|ENST00000537388,p.L203V|ENST00000537663,p.L203V|uc021ylw.1,p.L203V|uc003nbg.3,p.L203V|uc021ylx.1,p.L203V|uc021yly.1,p.L203V|NM_001165034,p.L203V protein_coding uc021yly.1 nonsynonymous SNV exon1 c.T607G p.L203V LLYFSSLPLGIYLLVSKKVTLGVVF LLYFSSLPLGIYVLVSKKVTLGVVF 1.0 5.0 - - 4186_6:13977957-13977957 T>G_LLYFSSLPLGIYVLVSKKVTLGVVF 0.0 19:14164439-14164439 C>T 0.0 4235 COLORECTAL - - - - PALM3 NM_001145028,p.C667Y|uc010xnk.1,p.C667Y|ENST00000340790,p.C667Y retained_intron, protein_coding uc010xnk.1 nonsynonymous SNV exon6 c.G2000A p.C667Y EGEEASGPKQKTCQCCAVM EGEEASGPKQKTYQCCAVM 4.0 4.0 - - 4235_19:14164439-14164439 C>T_EGEEASGPKQKTYQCCAVM 0.0 6:42713017-42713017 A>- 1.0 4326 BREAST - - - - TBCC ENST00000244625,p.S265fs|NM_003192,p.S265fs|uc003osl.3,p.S265fs|ENST00000372876,p.S265fs protein_coding, processed_transcript uc003osl.3 frameshift deletion exon1 c.795delT p.S265fs VLAVACQQLRIHSTKDTRIFLQVTSR VLAVACQQLRIHRRKTPASSCR 6.0 9.0 - - 4326_6:42713017-42713017 A>-_VLAVACQQLRIHRRKTPASSCR 0.0 9:136338623-136338623 G>A 1.0 3466 MELANOMA - - - - SLC2A6 uc004ceg.3,p.S356F|uc004cee.3,p.S379F|ENST00000371899,p.S379F|NM_017585,p.S379F protein_coding, processed_transcript uc004ceg.3 nonsynonymous SNV exon8 c.C1067T p.S356F LSPNSTAGLESESWGDLAQPLAAPA LSPNSTAGLESEFWGDLAQPLAAPA 4.0 9.0 - - 3466_9:136338623-136338623 G>A_LSPNSTAGLESEFWGDLAQPLAAPA 0.0 2:74692302-74692302 C>T 1.0 3879 MELANOMA - - - - MOGS ENST00000409065,p.G25R|NM_006302,p.G25R|ENST00000535045,p.G25R|uc010ffj.3,p.G25R|uc010yru.1,p.G25R|ENST00000233616,p.G25R retained_intron, protein_coding, processed_transcript uc010yru.1 nonsynonymous SNV exon1 c.G73A p.G25R AEGVRTAERAARGGPGRRDGRGGGP AEGVRTAERAARRGPGRRDGRGGGP 7.0 9.0 - - 3879_2:74692302-74692302 C>T_AEGVRTAERAARRGPGRRDGRGGGP 0.0 20:20621483-20621483 G>C 0.0 3775 CERVICAL - - - - RALGAPA2 ENST00000438161,p.Q138E|uc002wrz.3,p.Q138E|ENST00000202677,p.Q138E|NM_020343,p.Q138E protein_coding, processed_transcript uc002wrz.3 nonsynonymous SNV exon6 c.C412G p.Q138E RCEGIRLFLLWLQALQTNCAEEQVL RCEGIRLFLLWLEALQTNCAEEQVL 7.0 5.0 - - 3775_20:20621483-20621483 G>C_RCEGIRLFLLWLEALQTNCAEEQVL 0.0 4:100844301-100844301 G>A 1.0 4134 NSCLC - - - - DNAJB14 uc003hvl.4,p.T116M|uc010ili.4,p.T49M|NM_001278310,p.T49M|uc003hvk.4,p.T31M|NM_001031723,p.T116M|ENST00000442697,p.T116M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ili.4 nonsynonymous SNV exon2 c.C146T p.T49M NKCKNYYEVLGVTKDAGDEDLKKAY NKCKNYYEVLGVMKDAGDEDLKKAY 7.0 5.0 - - 4134_4:100844301-100844301 G>A_NKCKNYYEVLGVMKDAGDEDLKKAY 0.0 7:121741426-121741426 T>C 0.0 4081 COLORECTAL - - - - AASS uc003vka.3,p.R469G|ENST00000393376,p.R469G|ENST00000431170,p.R469G|ENST00000358954,p.R469G|NM_005763,p.R469G|ENST00000417368,p.R469G|uc003vkb.3,p.R469G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003vkb.3 nonsynonymous SNV exon13 c.A1405G p.R469G DKYKYIQTLRESRERAQSLSMGTRR DKYKYIQTLRESGERAQSLSMGTRR 3.0 8.0 - - 4081_7:121741426-121741426 T>C_DKYKYIQTLRESGERAQSLSMGTRR 0.0 10:50028330-50028330 G>A 1.0 4284 COLORECTAL - - - - WDFY4 uc001jhb.1,p.E381K|uc001jha.4,p.E1853K|ENST00000325239,p.E1853K|NM_020945,p.E1853K protein_coding, processed_transcript uc001jhb.1 nonsynonymous SNV exon10 c.G1141A p.E381K STRNTSSPEAAAEGDSTVEGLQAPT STRNTSSPEAAAKGDSTVEGLQAPT 6.0 8.0 - - 4284_10:50028330-50028330 G>A_STRNTSSPEAAAKGDSTVEGLQAPT 0.0 3:51315142-51315142 C>T 0.0 4213 COLORECTAL - - ID=COSM272611;OCCURENCE=1(large_intestine) - DOCK3 NM_004947,p.A927V|uc011bds.2,p.A927V|ENST00000266037,p.A927V protein_coding uc011bds.2 nonsynonymous SNV exon26 c.C2780T p.A927V LLTIMSKSHAQEAVRGQRCPQCTAE LLTIMSKSHAQEVVRGQRCPQCTAE 4.0 8.0 - - 4213_3:51315142-51315142 C>T_LLTIMSKSHAQEVVRGQRCPQCTAE 0.0 13:84454380-84454380 G>T 0.0 4287 COLORECTAL - - - - SLITRK1 uc001vlk.3,p.N421K|NM_001281503,p.N421K|ENST00000377084,p.N421K|NM_052910,p.N421K protein_coding uc001vlk.3 nonsynonymous SNV exon1 c.C1263A p.N421K NNIATVENNTFKNLLDLRWLYMDSN NNIATVENNTFKKLLDLRWLYMDSN 1.0 8.0 - - 4287_13:84454380-84454380 G>T_NNIATVENNTFKKLLDLRWLYMDSN 0.0 19:7682213-7682213 G>A 0.0 3903 MELANOMA - - - - CAMSAP3 uc002mgv.4,p.A1072T|NM_020902,p.A1072T|NM_001080429,p.A1099T|uc002mgu.4,p.A1099T|uc002mgw.3,p.A202T|ENST00000446248,p.A1099T|ENST00000160298,p.A1072T retained_intron, protein_coding uc002mgw.3 nonsynonymous SNV exon4 c.G604A p.A202T HNNLGVKRPTSRAPSPSGLMSPSRL HNNLGVKRPTSRTPSPSGLMSPSRL 2.0 9.0 - - 3903_19:7682213-7682213 G>A_HNNLGVKRPTSRTPSPSGLMSPSRL 0.0 1:158632503-158632503 G>A 0.0 2591 MELANOMA - - - - SPTA1 ENST00000368147,p.S818F|uc001fst.1,p.S818F|NM_003126,p.S818F|ENST00000368148,p.S818F protein_coding, processed_transcript uc001fst.1 nonsynonymous SNV exon17 c.C2453T p.S818F EAWIQETEPSATSTYLGKDLIASKK EAWIQETEPSATFTYLGKDLIASKK 1.0 7.0 - - 2591_1:158632503-158632503 G>A_EAWIQETEPSATFTYLGKDLIASKK 0.0 1:36769574-36769574 G>A 1.0 3713 MELANOMA - - - 2 THRAP3 ENST00000354618,p.E942K|NM_005119,p.E942K|ENST00000469141,p.E942K|uc001cae.4,p.E942K|uc001caf.4,p.E942K protein_coding, processed_transcript uc001caf.4 nonsynonymous SNV exon13 c.G2824A p.E942K EEGEIEDDESGTENREEKDNIQPTT EEGEIEDDESGTKNREEKDNIQPTT 9.0 10.0 - - 3713_1:36769574-36769574 G>A_EEGEIEDDESGTKNREEKDNIQPTT 0.0 11:93912839-93912839 C>T 1.0 3678 MELANOMA - - - - PANX1 ENST00000436171,p.S206F|NM_015368,p.S206F|uc001peq.3,p.S206F|uc001per.3,p.S206F|ENST00000227638,p.S206F protein_coding uc001per.3 nonsynonymous SNV exon4 c.C617T p.S206F PIVEQYLKTKKNSNNLIIKYISCRL PIVEQYLKTKKNFNNLIIKYISCRL 7.0 1.0 - - 3678_11:93912839-93912839 C>T_PIVEQYLKTKKNFNNLIIKYISCRL 0.0 19:21300382-21300382 A>G 1.0 4326 BREAST - - - - ZNF714 ENST00000596143,p.I304M|uc002npl.3,p.I150M|ENST00000600435,p.I304M protein_coding, processed_transcript, nonsense_mediated_decay uc002npl.3 nonsynonymous SNV exon5 c.A450G p.I150M AFNRFSYLTKHKIIHSGEKSYKCEQ AFNRFSYLTKHKMIHSGEKSYKCEQ 10.0 9.0 - - 4326_19:21300382-21300382 A>G_AFNRFSYLTKHKMIHSGEKSYKCEQ 0.0 14:103593551-103593551 G>A 1.0 4240 BREAST - - - - TNFAIP2 ENST00000333007,p.E149K|NM_006291,p.E149K|ENST00000560869,p.E149K|uc001ymm.1,p.E149K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001ymm.1 nonsynonymous SNV exon2 c.G445A p.E149K LGVLRRPLEAPPERLRQALAVVAEQ LGVLRRPLEAPPKRLRQALAVVAEQ 9.0 7.0 - - 4240_14:103593551-103593551 G>A_LGVLRRPLEAPPKRLRQALAVVAEQ 0.0 6:31743841-31743841 G>C 1.0 4326 BREAST - - - - VWA7 NM_025258,p.A138G|uc011dog.2,p.A138G|ENST00000375686,p.A138G|ENST00000375688,p.A138G|ENST00000447450,p.A138G retained_intron, protein_coding, processed_transcript uc011dog.2 nonsynonymous SNV exon3 c.C413G p.A138G LHFDAERLGQGRARLVGALRETVVA LHFDAERLGQGRGRLVGALRETVVA 4.0 7.0 - - 4326_6:31743841-31743841 G>C_LHFDAERLGQGRGRLVGALRETVVA 0.0 15:65680858-65680858 G>A 1.0 4196 COLORECTAL - - ID=COSM3377721;OCCURENCE=1(pancreas) - IGDCC4 uc002aou.1,p.A925V|uc002aot.1,p.A513V|NM_020962,p.A925V|ENST00000352385,p.A925V retained_intron, protein_coding, processed_transcript uc002aou.1 nonsynonymous SNV exon16 c.C2774T p.A925V LESDTRYFFKMGARTEVGPGPFSRL LESDTRYFFKMGVRTEVGPGPFSRL 5.0 8.0 - - 4196_15:65680858-65680858 G>A_LESDTRYFFKMGVRTEVGPGPFSRL 0.0 19:56703232-56703232 A>C 0.0 4213 COLORECTAL - - - - ZSCAN5B uc010ygh.2,p.L192R|ENST00000586855,p.L192R|NM_001080456,p.L192R|ENST00000358992,p.L192R protein_coding uc010ygh.2 nonsynonymous SNV exon2 c.T575G p.L192R RREQQILPRVAALSRRQGEDFLLHK RREQQILPRVAARSRRQGEDFLLHK 3.0 5.0 - - 4213_19:56703232-56703232 A>C_RREQQILPRVAARSRRQGEDFLLHK 0.0 11:31822380-31822380 G>A 0.0 4298 COLORECTAL - - - - PAX6 ENST00000379111,p.R128C|ENST00000379129,p.R142C|ENST00000379132,p.R128C|NM_001127612,p.R128C|NM_001258465,p.R128C|ENST00000241001,p.R128C|uc009yjr.3,p.R128C|uc021qfl.1,p.R142C|ENST00000419022,p.R142C|NM_001258463,p.R142C|NM_001258464,p.R128C|ENST00000379123,p.R128C|NM_001604,p.R142C|NM_000280,p.R128C|uc021qfn.1,p.R128C|uc021qfm.1,p.R142C|uc001mtf.5,p.R128C|uc001mtg.5,p.R142C|ENST00000379115,p.R142C|ENST00000379109,p.R128C|ENST00000379107,p.R142C|uc001mte.5,p.R128C|NM_001258462,p.R142C|uc001mtd.4,p.R128C|uc001mth.5,p.R128C retained_intron, protein_coding, processed_transcript uc021qfn.1 nonsynonymous SNV exon4 c.C382T p.R128C NIPSVSSINRVLRNLASEKQQMGAD NIPSVSSINRVLCNLASEKQQMGAD 3.0 5.0 - - 4298_11:31822380-31822380 G>A_NIPSVSSINRVLCNLASEKQQMGAD 0.0 2:168100576-168100576 G>T 0.0 4329 COLORECTAL - - - - XIRP2 uc010fpq.3,p.D670Y|ENST00000409195,p.D892Y|uc002udy.3,p.D717Y|NM_001199144,p.D670Y|NM_152381,p.D892Y|ENST00000409273,p.D670Y|ENST00000295237,p.D892Y|uc002udx.3,p.D892Y protein_coding uc010fpq.3 nonsynonymous SNV exon7 c.G2008T p.D670Y ETLPIEALKDSPDIGKLQKITASEE ETLPIEALKDSPYIGKLQKITASEE 1.0 6.0 - - 4329_2:168100576-168100576 G>T_ETLPIEALKDSPYIGKLQKITASEE 0.0 10:53458226-53458226 G>A 1.0 2369 MELANOMA - - - - CSTF2T ENST00000331173,p.P362S|NM_015235,p.P362S|uc001jjp.3,p.P362S protein_coding uc001jjp.3 nonsynonymous SNV exon1 c.C1084T p.P362S EPRGYLGPPHQGPPMHHASGHDTRG EPRGYLGPPHQGSPMHHASGHDTRG 8.0 10.0 - - 2369_10:53458226-53458226 G>A_EPRGYLGPPHQGSPMHHASGHDTRG 0.0 12:55759357-55759357 T>A 0.0 4346 COLORECTAL - - - - OR6C75 NM_001005497,p.F155I|ENST00000343399,p.F155I|uc010spk.2,p.F155I protein_coding uc010spk.2 nonsynonymous SNV exon1 c.T463A p.F155I VFSSWLAGFLIIFPPVMLLLQLDFC VFSSWLAGFLIIIPPVMLLLQLDFC 1.0 3.0 - - 4346_12:55759357-55759357 T>A_VFSSWLAGFLIIIPPVMLLLQLDFC 0.0 12:94543406-94543406 T>A 1.0 4317 COLORECTAL - - - - PLXNC1 uc001tdc.3,p.L220Q|NM_005761,p.L220Q|ENST00000258526,p.L220Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001tdc.3 nonsynonymous SNV exon1 c.T659A p.L220Q KDTEGRSLATQELGRLKLCEGAGSL KDTEGRSLATQEQGRLKLCEGAGSL 5.0 10.0 - - 4317_12:94543406-94543406 T>A_KDTEGRSLATQEQGRLKLCEGAGSL 0.0 2:27900193-27900193 T>C 1.0 4180 BREAST - - - - SLC4A1AP ENST00000326019,p.L513P|NM_018158,p.L513P|uc002rlk.4,p.L513P retained_intron, protein_coding, nonsense_mediated_decay uc002rlk.4 nonsynonymous SNV exon7 c.T1538C p.L513P SLVAKLNDAERELSEISERLKASSQ SLVAKLNDAEREPSEISERLKASSQ 9.0 7.0 - - 4180_2:27900193-27900193 T>C_SLVAKLNDAEREPSEISERLKASSQ 0.0 13:32760504-32760504 C>T 0.0 3903 MELANOMA - - ID=COSM230273;OCCURENCE=1(NS),1(large_intestine) - FRY uc001utx.3,p.R1143C|NM_023037,p.R1143C|ENST00000380250,p.R1143C protein_coding, processed_transcript, nonsense_mediated_decay uc001utx.3 nonsynonymous SNV exon27 c.C3427T p.R1143C AGPFSIMFTPLDRYSDRNHQITRYQ AGPFSIMFTPLDCYSDRNHQITRYQ 4.0 6.0 - - 3903_13:32760504-32760504 C>T_AGPFSIMFTPLDCYSDRNHQITRYQ 0.0 4:123317478-123317478 C>T 0.0 3795 MELANOMA - - - - ADAD1 ENST00000296513,p.R224C|uc003iep.3,p.R224C|NM_139243,p.R224C|uc003ieq.3,p.R206C|ENST00000439307,p.R224C|NM_001159295,p.R206C|ENST00000388724,p.R224C|NM_001159285,p.R224C|uc003ieo.3,p.R224C|ENST00000388725,p.R206C retained_intron, protein_coding, processed_transcript uc003ieq.3 nonsynonymous SNV exon6 c.C616T p.R206C IVKERFNQLISNRSEYLKYSSSLAA IVKERFNQLISNCSEYLKYSSSLAA 1.0 9.0 - - 3795_4:123317478-123317478 C>T_IVKERFNQLISNCSEYLKYSSSLAA 0.0 17:28849365-28849365 C>T 1.0 2369 MELANOMA - - - - GOSR1 NM_001007024,p.T176I|ENST00000451249,p.T239I|uc002hfd.3,p.T239I|uc002hfe.3,p.T241I|ENST00000581721,p.T227I|NM_001007025,p.T239I|NM_004871,p.T241I|ENST00000225724,p.T241I|uc002hff.3,p.T176I|ENST00000467337,p.T176I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002hff.3 nonsynonymous SNV exon9 c.C527T p.T176I DSLILGGVIGICTILLLLYAFH DSLILGGVIGICIILLLLYAFH 8.0 8.0 - - 2369_17:28849365-28849365 C>T_DSLILGGVIGICIILLLLYAFH 0.0 1:244528039-244528039 C>T 0.0 3903 MELANOMA - - ID=COSM228843;OCCURENCE=1(skin) - C1orf100 NM_001012970,p.R13C|NM_001276349,p.R13C|uc001iah.4,p.R13C|ENST00000308105,p.R13C|NM_001276348,p.R13C|ENST00000366537,p.R13C|uc001iai.4,p.R13C|uc031psw.1,p.R13C protein_coding, processed_transcript uc031psw.1 nonsynonymous SNV exon2 c.C37T p.R13C MTAIRLREFIERRPVIPPSIFIAHQ MTAIRLREFIERCPVIPPSIFIAHQ 3.0 10.0 - - 3903_1:244528039-244528039 C>T_MTAIRLREFIERCPVIPPSIFIAHQ 0.0 12:7177845-7177845 G>A 1.0 4189 MELANOMA - - - - C1S uc001qsk.3,p.V653M|NM_001734,p.V653M|NM_201442,p.V653M|uc009zfr.3,p.V486M|ENST00000402681,p.V486M|ENST00000328916,p.V653M|ENST00000360817,p.V653M|ENST00000406697,p.V653M|uc001qsj.3,p.V653M|uc001qsl.3,p.V653M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009zfr.3 nonsynonymous SNV exon11 c.G1456A p.V486M PNDKTKFYAAGLVSWGPQCGTYGLY PNDKTKFYAAGLMSWGPQCGTYGLY 10.0 4.0 - - 4189_12:7177845-7177845 G>A_PNDKTKFYAAGLMSWGPQCGTYGLY 0.0 16:53261494-53261494 ->G 1.0 4278 COLORECTAL - - - - CHD9 uc002ehb.3,p.F716fs|ENST00000398510,p.F716fs|uc002egy.3,p.F716fs|ENST00000566029,p.F716fs|ENST00000447540,p.F716fs|uc002ehd.2,p.F242fs|ENST00000565803,p.F242fs|ENST00000564845,p.F716fs|uc002ehc.3,p.F716fs|NM_025134,p.F716fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002ehd.2 frameshift insertion exon6 c.725_726insG p.F242fs EISPGVMIDTEEFFVKYKNYSYLHC EISPGVMIDTEELFCKIQELLLSSL 9.0 1.0 - - 4278_16:53261494-53261494 ->G_EISPGVMIDTEELFCKIQELLLSSL 0.0 2:220422584-220422584 G>A 0.0 4186 BREAST - - - - OBSL1 NM_015311,p.P1251S|uc010zli.1,p.P150S|ENST00000404537,p.P1251S|ENST00000265317,p.P242S|uc010fwk.3,p.P1251S|uc002vmh.1,p.P242S|NM_001173431,p.P1251S|uc010fwl.2,p.P1251S|ENST00000373876,p.P1251S|ENST00000603926,p.P1251S|ENST00000265318,p.P1159S retained_intron, protein_coding, processed_transcript uc010zli.1 nonsynonymous SNV exon3 c.C448T p.P150S HAGLYTCQSGAAPGAPSLSFTVQVA HAGLYTCQSGAASGAPSLSFTVQVA 7.0 10.0 - - 4186_2:220422584-220422584 G>A_HAGLYTCQSGAASGAPSLSFTVQVA 0.0 4:5687098-5687098 C>A 1.0 4129 NSCLC - - - - EVC2 uc003gik.3,p.R192L|ENST00000509670,p.R192L|uc003gij.3,p.R272L|ENST00000344938,p.R272L|ENST00000310917,p.R192L|ENST00000475313,p.R192L|ENST00000344408,p.R272L|NM_001166136,p.R192L|NM_147127,p.R272L protein_coding, nonsense_mediated_decay uc003gik.3 nonsynonymous SNV exon6 c.G575T p.R192L KLPAQLTFQSSSRNRTQLKVLFSIT KLPAQLTFQSSSLNRTQLKVLFSIT 5.0 1.0 - - 4129_4:5687098-5687098 C>A_KLPAQLTFQSSSLNRTQLKVLFSIT 0.0 6:26017750-26017750 C>A 0.0 4298 COLORECTAL - - - - HIST1H1A uc003nfo.3,p.A71S|ENST00000244573,p.A71S|NM_005325,p.A71S protein_coding uc003nfo.3 nonsynonymous SNV exon1 c.G211T p.A71S GVSLAALKKALAAAGYDVEKNNSRI GVSLAALKKALASAGYDVEKNNSRI 3.0 3.0 - - 4298_6:26017750-26017750 C>A_GVSLAALKKALASAGYDVEKNNSRI 0.0 17:8172293-8172293 C>T 1.0 2369 MELANOMA - - - - PFAS NM_012393,p.P1243L|ENST00000545834,p.P819L|ENST00000314666,p.P1243L|uc002gkr.3,p.P1243L|uc010vuv.2,p.P819L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vuv.2 nonsynonymous SNV exon26 c.C2456T p.P819L SAHGEGYVAFSSPELQAQIEARGLA SAHGEGYVAFSSLELQAQIEARGLA 8.0 9.0 - - 2369_17:8172293-8172293 C>T_SAHGEGYVAFSSLELQAQIEARGLA 0.0 16:26147468-26147468 G>A 0.0 4298 COLORECTAL - - - - HS3ST4 uc002dof.3,p.V424I|ENST00000331351,p.V424I|NM_006040,p.V424I protein_coding, processed_transcript uc002dof.3 nonsynonymous SNV exon2 c.G1270A p.V424I SKGRTHPRIDPDVIHRLRKFYKPFN SKGRTHPRIDPDIIHRLRKFYKPFN 3.0 9.0 - - 4298_16:26147468-26147468 G>A_SKGRTHPRIDPDIIHRLRKFYKPFN 0.0 12:81545861-81545862 AC>- 0.0 4346 COLORECTAL - - - - ACSS3 ENST00000548058,p.T362fs|ENST00000261206,p.T361fs|uc001szl.1,p.T362fs|uc001szm.1,p.T361fs|NM_024560,p.T362fs|ENST00000548324,p.T44fs|uc001szn.1,p.T44fs retained_intron, protein_coding, nonsense_mediated_decay uc001szn.1 frameshift deletion exon2 c.130_131del p.T44fs YICYGPLLHGNTTVLYEGKPVGTPDA YICYGPLLHGNTSFI 4.0 1.0 - - 4346_12:81545861-81545862 AC>-_YICYGPLLHGNTSFI 0.0 1:160247932-160247932 A>G 1.0 4316 COLORECTAL - - - - PEX19 ENST00000556710,p.L142P|uc010pjc.1,p.L142P protein_coding uc010pjc.1 nonsynonymous SNV exon6 c.T425C p.L142P FFCGSQWVYGPWLTYVGWLQQTSFK FFCGSQWVYGPWPTYVGWLQQTSFK 7.0 7.0 - - 4316_1:160247932-160247932 A>G_FFCGSQWVYGPWPTYVGWLQQTSFK 0.0 1:28293115-28293115 G>A 1.0 3466 MELANOMA - - - - XKR8 ENST00000373884,p.G198S|NM_018053,p.G198S|uc001bph.1,p.G198S protein_coding, processed_transcript uc001bph.1 nonsynonymous SNV exon3 c.G592A p.G198S RTCLPSKPLLGLGSSVIYFLWNLLL RTCLPSKPLLGLSSSVIYFLWNLLL 4.0 8.0 - - 3466_1:28293115-28293115 G>A_RTCLPSKPLLGLSSSVIYFLWNLLL 0.0 20:49509002-49509002 A>C 1.0 4335 COLORECTAL - - - - ADNP ENST00000396032,p.V750G|ENST00000349014,p.V750G|NM_015339,p.V750G|ENST00000396029,p.V750G|ENST00000371602,p.V750G|uc002xvt.1,p.V750G|NM_001282531,p.V750G|NM_181442,p.V750G|uc002xvu.1,p.V750G|NM_001282532,p.V750G protein_coding uc002xvu.1 nonsynonymous SNV exon4 c.T2249G p.V750G SPSFFEEKPEEPVVLALDPKGHEDD SPSFFEEKPEEPGVLALDPKGHEDD 7.0 4.0 - - 4335_20:49509002-49509002 A>C_SPSFFEEKPEEPGVLALDPKGHEDD 0.0 20:57428808-57428808 C>T 0.0 4189 MELANOMA - - - 1 GNAS NM_001077490,p.P101S|ENST00000306120,p.P100S retained_intron, protein_coding, processed_transcript NM_001077490 nonsynonymous SNV exon1 c.C301T p.P101S WEDTALHQKKLCPLSLTSLPREAAV WEDTALHQKKLCSLSLTSLPREAAV 10.0 3.0 - - 4189_20:57428808-57428808 C>T_WEDTALHQKKLCSLSLTSLPREAAV 0.0 3:168833264-168833264 C>T 1.0 3713 MELANOMA - - - 1 MECOM NM_001105078,p.G611E|ENST00000464456,p.G611E|ENST00000494292,p.G799E|uc003ffi.3,p.G611E|NM_001164000,p.G611E|ENST00000433243,p.G612E|uc011bpk.1,p.G611E|NM_001163999,p.G612E|uc010hwk.1,p.G634E|ENST00000392736,p.G611E|ENST00000460814,p.G611E|ENST00000472280,p.G612E|uc011bpj.1,p.G799E|uc010hwn.2,p.G799E|uc003ffn.3,p.G611E|ENST00000264674,p.G676E|NM_005241,p.G611E|NM_001205194,p.G611E|uc011bpi.1,p.G612E|NM_004991,p.G799E|uc003ffk.2,p.G611E|NM_001105077,p.G676E|ENST00000492586,p.G262E|uc003ffj.3,p.G676E|ENST00000468789,p.G611E|uc003ffl.2,p.G771E retained_intron, protein_coding, processed_transcript uc011bpk.1 nonsynonymous SNV exon7 c.G1832A p.G611E KLTEPRKNHVFGGKKGSNVESRPAS KLTEPRKNHVFGEKKGSNVESRPAS 2.0 2.0 - - 3713_3:168833264-168833264 C>T_KLTEPRKNHVFGEKKGSNVESRPAS 0.0 10:50340326-50340326 C>T 0.0 4287 COLORECTAL - - - - FAM170B uc001jhj.3,p.A62T|NM_001164484,p.A62T|ENST00000311787,p.A62T protein_coding uc001jhj.3 nonsynonymous SNV exon2 c.G184A p.A62T GPAIPREEGLYFAARDRGMRDWSSS GPAIPREEGLYFTARDRGMRDWSSS 1.0 10.0 - - 4287_10:50340326-50340326 C>T_GPAIPREEGLYFTARDRGMRDWSSS 0.0 3:189712072-189712072 C>T 1.0 3713 MELANOMA - - - - LEPREL1 uc011bsk.2,p.E212K|NM_018192,p.E212K|ENST00000444866,p.E31K|NM_001134418,p.E31K|ENST00000319332,p.E212K|ENST00000427335,p.E31K|uc003fsg.3,p.E31K|ENST00000426003,p.E31K retained_intron, protein_coding uc011bsk.2 nonsynonymous SNV exon3 c.G634A p.E212K LQLVDREAKPHMESYNAGVKHYEAD LQLVDREAKPHMKSYNAGVKHYEAD 2.0 7.0 - - 3713_3:189712072-189712072 C>T_LQLVDREAKPHMKSYNAGVKHYEAD 0.0 5:886726-886726 G>A 1.0 3466 MELANOMA - - - - BRD9 ENST00000467963,p.P272S|uc003jbq.3,p.P272S|ENST00000483173,p.P219S|NM_023924,p.P272S|uc003jbl.3,p.P156S|ENST00000435709,p.P156S|uc003jbo.3,p.P176S|ENST00000489093,p.P176S|ENST00000388890,p.P156S|ENST00000323510,p.P176S|NM_001009877,p.P219S|uc011cmb.2,p.P219S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cmb.2 nonsynonymous SNV exon7 c.C655T p.P219S PVQVETAKKSKKPSREVISCMFEPE PVQVETAKKSKKSSREVISCMFEPE 7.0 7.0 - - 3466_5:886726-886726 G>A_PVQVETAKKSKKSSREVISCMFEPE 0.0 4:72620224-72620224 C>T 0.0 4196 COLORECTAL - - - - GC uc010iif.3,p.G408D|NM_001204306,p.G389D|ENST00000273951,p.G389D|uc021xpb.1,p.G389D|ENST00000513476,p.G389D|uc003hge.3,p.G389D|ENST00000504199,p.G408D|NM_001204307,p.G408D|NM_000583,p.G389D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021xpb.1 nonsynonymous SNV exon11 c.G1166A p.G389D DVEDSTTCFNAKGPLLKKELSSFID DVEDSTTCFNAKDPLLKKELSSFID 2.0 10.0 - - 4196_4:72620224-72620224 C>T_DVEDSTTCFNAKDPLLKKELSSFID 0.0 5:101813455-101813455 C>T 0.0 3903 MELANOMA - - - - SLCO6A1 uc003knn.3,p.G243R|NM_173488,p.G243R|ENST00000506729,p.G243R|NM_001289002,p.G243R|ENST00000379807,p.G243R|uc003knp.3,p.G243R retained_intron, protein_coding, processed_transcript uc003knp.3 nonsynonymous SNV exon3 c.G727A p.G243R FFILGQTVQGIAGMPLYILGITFID FFILGQTVQGIARMPLYILGITFID 2.0 2.0 - - 3903_5:101813455-101813455 C>T_FFILGQTVQGIARMPLYILGITFID 0.0 19:45563845-45563845 C>T 1.0 3466 MELANOMA - - ID=COSM247283;OCCURENCE=1(endometrium),1(prostate) - CLASRP uc010xxh.2,p.R213W|uc002pam.3,p.R275W|ENST00000391952,p.R275W|NM_007056,p.R275W|ENST00000221455,p.R275W|ENST00000391953,p.R213W|ENST00000544944,p.R275W|NM_001278439,p.R213W|uc002pak.3,p.R275W retained_intron, protein_coding, nonsense_mediated_decay uc010xxh.2 nonsynonymous SNV exon9 c.C637T p.R213W SGRRSRRQRREFREKRLRGRKISPP SGRRSRRQRREFWEKRLRGRKISPP 9.0 1.0 - - 3466_19:45563845-45563845 C>T_SGRRSRRQRREFWEKRLRGRKISPP 0.0 2:220197278-220197278 C>A 0.0 4213 COLORECTAL - - - - RESP18 NM_001007089,p.C67F|uc002vlc.4,p.C67F|ENST00000333527,p.C67F retained_intron, protein_coding uc002vlc.4 nonsynonymous SNV exon2 c.G200T p.C67F LQLLVCFLLLNSCPGGCSDTSAHDG LQLLVCFLLLNSFPGGCSDTSAHDG 1.0 10.0 - - 4213_2:220197278-220197278 C>A_LQLLVCFLLLNSFPGGCSDTSAHDG 0.0 4:115998158-115998158 C>T 0.0 4275 COLORECTAL 0.01 rs35181627 ID=COSM3696401;OCCURENCE=1(large_intestine) - NDST4 ENST00000264363,p.R12Q|NM_022569,p.R12Q|uc003ibu.3,p.R12Q retained_intron, protein_coding, nonsense_mediated_decay uc003ibu.3 nonsynonymous SNV exon2 c.G35A p.R12Q MNLIVKLRRSFRTLIVLLATFCLV MNLIVKLRRSFQTLIVLLATFCLV 1.0 3.0 - - 4275_4:115998158-115998158 C>T_MNLIVKLRRSFQTLIVLLATFCLV 0.0 11:1093274-1093274 C>T 0.0 4346 COLORECTAL - - - - MUC2 ENST00000359061,p.S1665L|ENST00000441003,p.S1698L protein_coding ENST00000441003 nonsynonymous SNV exon30 c.C5093T p.S1698L PTPTPTGTQTPTSTPITTTTTVTPT PTPTPTGTQTPTLTPITTTTTVTPT 4.0 4.0 - - 4346_11:1093274-1093274 C>T_PTPTPTGTQTPTLTPITTTTTVTPT 0.0 1:92442634-92442634 C>T 0.0 4246 COLORECTAL - - - - BRDT ENST00000370389,p.T145I|uc001dom.4,p.T218I|ENST00000426141,p.T218I|NM_001726,p.T218I|uc010otb.2,p.T172I|uc010osz.2,p.T222I|uc001dok.4,p.T218I|NM_001242806,p.T222I|ENST00000402388,p.T218I|uc010ota.2,p.T172I|NM_001242810,p.T145I|ENST00000399546,p.T218I|NM_207189,p.T218I|ENST00000362005,p.T218I|uc001dol.4,p.T218I|NM_001242808,p.T172I|NM_001242807,p.T172I|NM_001242805,p.T218I|uc009wdf.3,p.T145I|ENST00000394530,p.T172I protein_coding, processed_transcript uc010otb.2 nonsynonymous SNV exon5 c.C515T p.T172I QVTKGVKRKADTTTPATSAVKASSE QVTKGVKRKADTITPATSAVKASSE 2.0 7.0 - - 4246_1:92442634-92442634 C>T_QVTKGVKRKADTITPATSAVKASSE 0.0 15:99901582-99901582 C>T 1.0 3713 MELANOMA - - - - LRRC28 uc010uru.1,p.S177F|ENST00000447360,p.S246F|ENST00000422500,p.S177F|NM_144598,p.S246F|uc010urt.1,p.S60F|ENST00000561276,p.S201F|uc002bvb.1,p.S92F|ENST00000301981,p.S246F|ENST00000558172,p.S142F|uc002bva.1,p.S246F|NM_001284400,p.S246F|uc002bvc.1,p.S246F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010uru.1 nonsynonymous SNV exon7 c.C530T p.S177F GAPIQVSEVKLLSFSSGQRTVFLPA GAPIQVSEVKLLFFSSGQRTVFLPA 7.0 9.0 - - 3713_15:99901582-99901582 C>T_GAPIQVSEVKLLFFSSGQRTVFLPA 0.0 9:16435575-16435575 G>A 1.0 3716 MELANOMA - - - - BNC2 uc003zml.3,p.P873S|ENST00000380667,p.P806S|uc011lmw.2,p.P778S|ENST00000545497,p.P778S|ENST00000380672,p.P873S|NM_017637,p.P873S protein_coding, processed_transcript, nonsense_mediated_decay uc011lmw.2 nonsynonymous SNV exon5 c.C2332T p.P778S HVCTVAGCNAAFPSRRSRDRHSANI HVCTVAGCNAAFSSRRSRDRHSANI 9.0 10.0 - - 3716_9:16435575-16435575 G>A_HVCTVAGCNAAFSSRRSRDRHSANI 0.0 11:59211439-59211439 C>A 0.0 4278 COLORECTAL - - - - OR5A1 NM_001004728,p.S266R|uc001nnx.1,p.S266R|ENST00000302030,p.S266R protein_coding uc001nnx.1 nonsynonymous SNV exon1 c.C798A p.S266R LFGTALFVYLRPSSSYLLGRDKVVS LFGTALFVYLRPRSSYLLGRDKVVS 1.0 9.0 - - 4278_11:59211439-59211439 C>A_LFGTALFVYLRPRSSYLLGRDKVVS 0.0 7:2412349-2412349 T>C 1.0 2359 MELANOMA - - - - EIF3B uc003sly.3,p.F577L|uc003sma.3,p.F305L|NM_001037283,p.F577L|ENST00000360876,p.F577L|NM_003751,p.F577L|ENST00000397011,p.F577L|uc003slx.3,p.F577L retained_intron, protein_coding uc003sma.3 nonsynonymous SNV exon11 c.T913C p.F305L IIAFAWEPNGSKFAVLHGEAPRISV IIAFAWEPNGSKLAVLHGEAPRISV 10.0 5.0 - - 2359_7:2412349-2412349 T>C_IIAFAWEPNGSKLAVLHGEAPRISV 0.0 17:48626839-48626839 C>T 1.0 3784 MELANOMA - - - - SPATA20 uc002ire.3,p.P225S|NM_001258372,p.P269S|ENST00000006658,p.P285S|uc010wmv.1,p.P295S|NM_001258373,p.P225S|uc002irf.3,p.P269S|NM_022827,p.P285S|ENST00000356488,p.P269S|uc002ird.3,p.P285S|ENST00000393244,p.P225S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wmv.1 nonsynonymous SNV exon5 c.C883T p.P295S EEYGGFAEAPKFPTPVILSFLFSYW EEYGGFAEAPKFSTPVILSFLFSYW 9.0 4.0 - - 3784_17:48626839-48626839 C>T_EEYGGFAEAPKFSTPVILSFLFSYW 0.0 20:42315517-42315517 G>A 1.0 3466 MELANOMA - - - - MYBL2 ENST00000217026,p.G102D|uc002xlb.1,p.G102D|ENST00000396863,p.G78D|uc010zwj.1,p.G78D|NM_001278610,p.G78D|NM_002466,p.G102D protein_coding uc010zwj.1 nonsynonymous SNV exon4 c.G233A p.G78D EDQKVIELVKKYGTKQWTLIAKHLK EDQKVIELVKKYDTKQWTLIAKHLK 4.0 5.0 - - 3466_20:42315517-42315517 G>A_EDQKVIELVKKYDTKQWTLIAKHLK 0.0 2:157413913-157413913 G>T 1.0 4129 NSCLC - - - - GPD2 ENST00000438166,p.M328I|ENST00000409674,p.M328I|uc002tzd.4,p.M328I|ENST00000310454,p.M328I|NM_001083112,p.M328I|ENST00000409861,p.M328I|ENST00000409125,p.M101I|uc002tzf.4,p.M328I|NM_000408,p.M328I|ENST00000540309,p.M328I|uc010zch.2,p.M101I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010zch.2 nonsynonymous SNV exon5 c.G303T p.M101I HIVMPGYYSPESMGLLDPATSDGRV HIVMPGYYSPESIGLLDPATSDGRV 8.0 4.0 - - 4129_2:157413913-157413913 G>T_HIVMPGYYSPESIGLLDPATSDGRV 0.0 4:2966983-2966983 G>A 0.0 4081 COLORECTAL - - - - GRK4 ENST00000442472,p.A52T|uc003ggm.3,p.A52T retained_intron, protein_coding, processed_transcript uc003ggm.3 nonsynonymous SNV exon2 c.G154A p.A52T AAAESASSPLHPATKASVGPALQRE AAAESASSPLHPTTKASVGPALQRE 3.0 9.0 - - 4081_4:2966983-2966983 G>A_AAAESASSPLHPTTKASVGPALQRE 0.0 9:77390974-77390974 C>T 0.0 2556 MELANOMA - - - - TRPM6 ENST00000451710,p.M1076I|uc004ajl.1,p.M1076I|ENST00000449912,p.M1071I|NM_001177311,p.M1071I|ENST00000376864,p.M1076I|ENST00000361255,p.M1071I|uc004ajk.1,p.M1071I|NM_017662,p.M1076I|ENST00000360774,p.M1076I|uc022bib.1,p.M1071I|NM_001177310,p.M1071I protein_coding, processed_transcript uc022bib.1 nonsynonymous SNV exon24 c.G3213A p.M1071I LLIAFFNNVYLDMESISNNLWKYNR LLIAFFNNVYLDIESISNNLWKYNR 1.0 5.0 - - 2556_9:77390974-77390974 C>T_LLIAFFNNVYLDIESISNNLWKYNR 0.0 7:39125584-39125584 C>A 1.0 4234 NSCLC - - - - POU6F2 uc022acb.1,p.A48E|ENST00000524147,p.A40E|ENST00000464276,p.A40E|ENST00000559001,p.A40E|ENST00000403058,p.A48E|ENST00000520104,p.A40E|uc010kxo.3,p.A40E|ENST00000451021,p.A49E|uc003thb.2,p.A48E|ENST00000518318,p.A48E|NM_007252,p.A48E|NM_001166018,p.A48E protein_coding, processed_transcript, nonsense_mediated_decay uc022acb.1 nonsynonymous SNV exon3 c.C143A p.A48E ATSDSELNEPLLAPVESNDSEDTPS ATSDSELNEPLLEPVESNDSEDTPS 5.0 7.0 - - 4234_7:39125584-39125584 C>A_ATSDSELNEPLLEPVESNDSEDTPS 0.0 3:108344713-108344713 A>- 1.0 4298 COLORECTAL - - - - DZIP3 ENST00000479138,p.K160fs|NM_014648,p.K160fs|ENST00000486815,p.K76fs|ENST00000361582,p.K160fs|ENST00000495008,p.K160fs|uc003dxe.1,p.K160fs|uc003dxd.3,p.K160fs|uc003dxf.1,p.K160fs|ENST00000463306,p.K160fs protein_coding, nonsense_mediated_decay uc003dxf.1 frameshift deletion exon7 c.478delA p.K160fs RGKKEDYTEAENKFLVMKMMIQENE RGKKEDYTEAENNFW 6.0 9.0 - - 4298_3:108344713-108344713 A>-_RGKKEDYTEAENNFW 0.0 16:1604966-1604966 G>A 0.0 2359 MELANOMA - - - - TMEM204 NM_001256541,p.R207H|ENST00000566264,p.R207H|NM_024600,p.R207H|ENST00000253934,p.R207H|uc002cmd.3,p.R207H|uc002cmc.3,p.R207H protein_coding uc002cmd.3 nonsynonymous SNV exon3 c.G620A p.R207H EDCMAPRVIVISRSLTARFRRGLDN EDCMAPRVIVISHSLTARFRRGLDN 2.0 7.0 - - 2359_16:1604966-1604966 G>A_EDCMAPRVIVISHSLTARFRRGLDN 0.0 19:46281432-46281432 G>A 1.0 4129 NSCLC - - - - DMPK uc010xxs.1,p.R121C|uc002pdd.1,p.R220C|NM_001081560,p.R210C|NM_001288766,p.R210C|uc002pdh.1,p.R210C|uc002pdg.1,p.R210C|NM_001081562,p.R210C|ENST00000600757,p.R220C|uc002pdi.1,p.R236C|ENST00000291270,p.R210C|NM_001081563,p.R220C|NM_001288765,p.R121C|ENST00000354227,p.R210C|ENST00000458663,p.R210C|NM_001288764,p.R236C|uc002pde.1,p.R220C|uc010xxt.1,p.R210C|ENST00000447742,p.R210C|ENST00000343373,p.R220C|NM_004409,p.R210C|uc002pdf.1,p.R210C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010xxt.1 nonsynonymous SNV exon6 c.C628T p.R210C PDNILLDRCGHIRLADFGSCLKLRA PDNILLDRCGHICLADFGSCLKLRA 8.0 8.0 - - 4129_19:46281432-46281432 G>A_PDNILLDRCGHICLADFGSCLKLRA 0.0 17:78071170-78071170 G>A 0.0 4301 MELANOMA - - - - CCDC40 uc010dht.3,p.D1050N|uc002jxn.4,p.D446N|NM_017950,p.D1050N|ENST00000397545,p.D1050N|uc002jxm.4,p.D833N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010dht.3 nonsynonymous SNV exon19 c.G3148A p.D1050N SVIQADFDTLEADLTRLGALKRQNL SVIQADFDTLEANLTRLGALKRQNL 6.0 2.0 - - 4301_17:78071170-78071170 G>A_SVIQADFDTLEANLTRLGALKRQNL 0.0 5:38506168-38506168 C>T 1.0 3919 MELANOMA - - - 1 LIFR NM_002310,p.G377E|NM_001127671,p.G377E|uc003jli.2,p.G377E|ENST00000263409,p.G377E|ENST00000453190,p.G377E|uc010ive.1,p.G377E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ive.1 nonsynonymous SNV exon9 c.G1130A p.G377E RATSYTLVESFSGKYVRLKRAEAPT RATSYTLVESFSEKYVRLKRAEAPT 3.0 10.0 - - 3919_5:38506168-38506168 C>T_RATSYTLVESFSEKYVRLKRAEAPT 0.0 1:233497848-233497848 A>C 0.0 4245 COLORECTAL - - - - KIAA1804 uc001hvs.1,p.K454T|ENST00000366623,p.K454T|uc001hvt.4,p.K454T|ENST00000366624,p.K454T|NM_032435,p.K454T protein_coding uc001hvt.4 nonsynonymous SNV exon5 c.A1361C p.K454T REEELTRAALQQKSQEELLKRREQQ REEELTRAALQQTSQEELLKRREQQ 7.0 2.0 - - 4245_1:233497848-233497848 A>C_REEELTRAALQQTSQEELLKRREQQ 0.0 3:52246364-52246364 C>T 1.0 4317 COLORECTAL - - - - ALAS1 ENST00000394965,p.P564S|ENST00000469224,p.P564S|ENST00000310271,p.P564S|NM_199166,p.P564S|uc011bec.2,p.P581S|uc003dcy.2,p.P564S|NM_000688,p.P564S|ENST00000484952,p.P564S|uc003dcz.2,p.P564S protein_coding uc011bec.2 nonsynonymous SNV exon11 c.C1741T p.P581S NIYVQAINYPTVPRGEELLRIAPTP NIYVQAINYPTVSRGEELLRIAPTP 8.0 9.0 - - 4317_3:52246364-52246364 C>T_NIYVQAINYPTVSRGEELLRIAPTP 0.0 8:25182901-25182901 G>C 1.0 4244 COLORECTAL - - - - DOCK5 NM_024940,p.D581H|uc003xeg.3,p.D581H|ENST00000276440,p.D581H|uc003xeh.1,p.D295H|uc003xei.3,p.D151H retained_intron, protein_coding, nonsense_mediated_decay uc003xei.3 nonsynonymous SNV exon6 c.G451C p.D151H LVVYKGDNKKMEDAKFYLTLPGTKM LVVYKGDNKKMEHAKFYLTLPGTKM 8.0 5.0 - - 4244_8:25182901-25182901 G>C_LVVYKGDNKKMEHAKFYLTLPGTKM 0.0 16:27781308-27781308 C>T 1.0 4081 COLORECTAL - - - - KIAA0556 NM_015202,p.R1368W|uc002dow.3,p.R1368W|ENST00000261588,p.R1368W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002dow.3 nonsynonymous SNV exon21 c.C4102T p.R1368W DFAQEILFVDYLRAQLLPQPARRLD DFAQEILFVDYLWAQLLPQPARRLD 7.0 3.0 - - 4081_16:27781308-27781308 C>T_DFAQEILFVDYLWAQLLPQPARRLD 0.0 13:38357308-38357308 C>G 0.0 4196 COLORECTAL - - - - TRPC4 uc010abx.3,p.A55P|ENST00000358477,p.A55P|NM_003306,p.A55P|uc010tey.2,p.A55P|ENST00000379673,p.A55P|uc010aby.3,p.A55P|uc010abw.3,p.A55P|NM_016179,p.A55P|ENST00000447043,p.A55P|ENST00000379681,p.A55P|NM_001135956,p.A55P|NM_001135958,p.A55P|NM_001135955,p.A55P|ENST00000488717,p.A55P|ENST00000426868,p.A55P|ENST00000379705,p.A55P|ENST00000355779,p.A55P|ENST00000379679,p.A55P|ENST00000338947,p.A55P|uc001uwt.3,p.A55P|NM_001135957,p.A55P|uc001uws.3,p.A55P protein_coding, processed_transcript, nonsense_mediated_decay uc010tey.2 nonsynonymous SNV exon2 c.G163C p.A55P GDYASVKKSLEEAEIYFKININCID GDYASVKKSLEEPEIYFKININCID 5.0 4.0 - - 4196_13:38357308-38357308 C>G_GDYASVKKSLEEPEIYFKININCID 0.0 16:31927698-31927698 C>T 1.0 4000 MELANOMA - - - - ZNF267 uc031qvx.1,p.H678Y|ENST00000300870,p.H710Y|uc031qvw.1,p.H454Y|uc002ecs.5,p.H710Y|NM_003414,p.H710Y|NM_001265588,p.H678Y protein_coding, nonsense_mediated_decay uc031qvx.1 nonsynonymous SNV exon5 c.C2032T p.H678Y SYRSYLTTHRRSHSGERPYKCEECG SYRSYLTTHRRSYSGERPYKCEECG 8.0 1.0 - - 4000_16:31927698-31927698 C>T_SYRSYLTTHRRSYSGERPYKCEECG 0.0 7:44578620-44578620 G>A 0.0 3998 MELANOMA - - - - NPC1L1 uc003tlc.3,p.P459L|ENST00000546276,p.P459L|NM_001300967,p.P459L|NM_013389,p.P459L|uc011kbw.2,p.P459L|ENST00000289547,p.P459L|NM_001101648,p.P459L|uc003tlb.3,p.P459L|ENST00000381160,p.P459L|uc003tld.3,p.P459L|ENST00000423141,p.P459L protein_coding uc011kbw.2 nonsynonymous SNV exon2 c.C1376T p.P459L LQERLRHLQVWSPEAQRNISLQDIC LQERLRHLQVWSLEAQRNISLQDIC 1.0 8.0 - - 3998_7:44578620-44578620 G>A_LQERLRHLQVWSLEAQRNISLQDIC 0.0 8:144993955-144993955 C>G 1.0 4240 BREAST - - - - PLEC ENST00000345136,p.G3345A|uc003zad.2,p.G3345A|ENST00000436759,p.G3372A|ENST00000322810,p.G3482A|ENST00000356346,p.G3331A|NM_201382,p.G3345A|uc003zaj.2,p.G3372A|uc003zab.1,p.G3345A|uc003zae.1,p.G3313A|ENST00000527096,p.G3368A|NM_201380,p.G3482A|ENST00000354589,p.G3345A|NM_201384,p.G3345A|uc003zaf.1,p.G3482A|uc003zag.1,p.G3323A|NM_201379,p.G3323A|uc003zah.2,p.G3331A|ENST00000357649,p.G3349A|ENST00000354958,p.G3323A|ENST00000398774,p.G3313A|NM_201378,p.G3331A|NM_201381,p.G3313A|NM_000445,p.G3372A|NM_201383,p.G3349A|uc003zac.1,p.G3349A retained_intron, protein_coding uc003zaj.2 nonsynonymous SNV exon33 c.G10115C p.G3372A DGKTTVKDLSELGSVRTLLQGSGCL DGKTTVKDLSELASVRTLLQGSGCL 9.0 2.0 - - 4240_8:144993955-144993955 C>G_DGKTTVKDLSELASVRTLLQGSGCL 0.0 16:1252066-1252066 C>T 0.0 2556 MELANOMA - - - - CACNA1H ENST00000565831,p.P539L|NM_021098,p.P539L|ENST00000348261,p.P539L|uc002ckt.3,p.P539L|ENST00000358590,p.P539L|NM_001005407,p.P539L|uc002cks.3,p.P539L retained_intron, protein_coding uc002ckt.3 nonsynonymous SNV exon9 c.C1616T p.P539L HHYHFSHGSPRRPGPEPGACDTRLV HHYHFSHGSPRRLGPEPGACDTRLV 4.0 9.0 - - 2556_16:1252066-1252066 C>T_HHYHFSHGSPRRLGPEPGACDTRLV 0.0 9:84604718-84604718 G>A 0.0 3795 MELANOMA - - - - SPATA31D1 ENST00000344803,p.R71K|NM_001001670,p.R71K|uc004amn.3,p.R71K protein_coding uc004amn.3 nonsynonymous SNV exon2 c.G212A p.R71K DIQKHQGRAKRRRKGGTFKGFPDWK DIQKHQGRAKRRKKGGTFKGFPDWK 1.0 1.0 - - 3795_9:84604718-84604718 G>A_DIQKHQGRAKRRKKGGTFKGFPDWK 0.0 15:23811360-23811360 G>A 1.0 3716 MELANOMA - - - - MKRN3 uc010ayi.1,p.S144N|ENST00000314520,p.S144N|uc001ywh.4,p.S144N|NM_005664,p.S144N protein_coding, processed_transcript, nonsense_mediated_decay uc010ayi.1 nonsynonymous SNV exon1 c.G431A p.S144N VSPPGASAGGGPSTAAHIEPPTQEV VSPPGASAGGGPNTAAHIEPPTQEV 6.0 6.0 - - 3716_15:23811360-23811360 G>A_VSPPGASAGGGPNTAAHIEPPTQEV 0.0 16:3165842-3165842 C>T 1.0 3713 MELANOMA - - - - ZNF205 ENST00000414351,p.P95L|ENST00000444510,p.P95L|NM_003456,p.P95L|NM_001278158,p.P95L|uc031quw.1,p.P95L|uc002cua.3,p.P95L|ENST00000382192,p.P95L|NM_001042428,p.P95L|uc002cub.3,p.P95L|ENST00000219091,p.P95L protein_coding uc031quw.1 nonsynonymous SNV exon4 c.C284T p.P95L KALFLPGGALPSPRIPVLSREGRTR KALFLPGGALPSLRIPVLSREGRTR 5.0 8.0 - - 3713_16:3165842-3165842 C>T_KALFLPGGALPSLRIPVLSREGRTR 0.0 13:99566616-99566616 G>A 0.0 2359 MELANOMA - - - - DOCK9 ENST00000448493,p.S321F|uc021rlw.1,p.S309F|ENST00000442173,p.S309F|NM_001130050,p.S309F|ENST00000339416,p.S310F|uc010tit.1,p.S310F|uc010afu.1,p.S125F|ENST00000376460,p.S309F|uc010tir.1,p.S310F|uc001vnt.2,p.S310F|uc001vnw.2,p.S309F|uc010tis.1,p.S309F|NM_001130049,p.S310F protein_coding, processed_transcript uc021rlw.1 nonsynonymous SNV exon9 c.C926T p.S309F EDDEQSKLEGSGSGLDSYLPELAKS EDDEQSKLEGSGFGLDSYLPELAKS 8.0 5.0 - - 2359_13:99566616-99566616 G>A_EDDEQSKLEGSGFGLDSYLPELAKS 0.0 1:6219425-6219425 C>T 0.0 4160 COLORECTAL - - - - CHD5 ENST00000262450,p.E120K|uc001amb.2,p.E120K|NM_015557,p.E120K|ENST00000496404,p.E120K protein_coding, nonsense_mediated_decay uc001amb.2 nonsynonymous SNV exon3 c.G358A p.E120K EKKAKRKKKDEDEDDNDDGCLKEPK EKKAKRKKKDEDKDDNDDGCLKEPK 4.0 3.0 - - 4160_1:6219425-6219425 C>T_EKKAKRKKKDEDKDDNDDGCLKEPK 0.0 17:17699795-17699795 T>C 0.0 4081 COLORECTAL - - - - RAI1 ENST00000261641,p.L1178P|uc002grn.1,p.L1178P|ENST00000353383,p.L1178P|uc002grm.3,p.L1178P|NM_030665,p.L1178P sense_intronic, protein_coding, processed_transcript uc002grn.1 nonsynonymous SNV exon2 c.T3533C p.L1178P GRLPNCRATKKLLDNSHLPATFKVS GRLPNCRATKKLPDNSHLPATFKVS 10.0 5.0 - - 4081_17:17699795-17699795 T>C_GRLPNCRATKKLPDNSHLPATFKVS 0.0 13:21555646-21555646 C>T 1.0 3919 MELANOMA - - - - LATS2 ENST00000382592,p.G875E|uc001unr.4,p.G875E|uc009zzs.3,p.G875E|ENST00000542899,p.G875E|NM_014572,p.G875E protein_coding, processed_transcript uc009zzs.3 nonsynonymous SNV exon6 c.G2624A p.G875E KQHQRCLAHSLVGTPNYIAPEVLLR KQHQRCLAHSLVETPNYIAPEVLLR 7.0 3.0 - - 3919_13:21555646-21555646 C>T_KQHQRCLAHSLVETPNYIAPEVLLR 0.0 19:40899992-40899992 T>C 0.0 4335 COLORECTAL - - - - PRX uc002onq.3,p.S1284G|uc002onr.3,p.S1423G|NM_181882,p.S1423G|ENST00000324001,p.S1423G protein_coding, processed_transcript uc002onr.3 nonsynonymous SNV exon7 c.A4267G p.S1423G RFPRVSLSPKARSGSGDQEEGGLRV RFPRVSLSPKARGGSGDQEEGGLRV 8.0 7.0 - - 4335_19:40899992-40899992 T>C_RFPRVSLSPKARGGSGDQEEGGLRV 0.0 2:152376249-152376249 C>T 1.0 4000 MELANOMA - - - - NEB NM_001164508,p.G7505S|uc031rpp.1,p.G7540S|uc002txt.4,p.G309S|ENST00000604864,p.G7505S|ENST00000427231,p.G7505S|ENST00000603639,p.G7505S|uc021vrd.1,p.G5804S|uc021vrb.1,p.G5804S|ENST00000172853,p.G5804S|ENST00000409198,p.G5804S|NM_001164507,p.G7505S|ENST00000397345,p.G7505S|ENST00000413693,p.G2235S|NM_001271208,p.G7540S|uc002txr.3,p.G2270S|uc002txu.3,p.G7505S|uc021vrc.1,p.G7505S retained_intron, protein_coding, processed_transcript uc031rpp.1 nonsynonymous SNV exon155 c.G22618A p.G7540S QVKYRENFDKEKGKTPKYNPKDSQL QVKYRENFDKEKSKTPKYNPKDSQL 4.0 7.0 - - 4000_2:152376249-152376249 C>T_QVKYRENFDKEKSKTPKYNPKDSQL 0.0 12:108012027-108012027 C>T 0.0 3903 MELANOMA - - ID=COSM69855;OCCURENCE=1(ovary) - BTBD11 uc001tmk.1,p.A775V|NM_001018072,p.A775V|ENST00000357167,p.A312V|NM_001017523,p.A312V|uc001tmj.3,p.A775V|ENST00000490090,p.A775V|ENST00000280758,p.A775V|uc001tml.1,p.A312V protein_coding uc001tml.1 nonsynonymous SNV exon8 c.C935T p.A312V SLEEILAEGTDLAETAPPPLCASRN SLEEILAEGTDLVETAPPPLCASRN 4.0 7.0 - - 3903_12:108012027-108012027 C>T_SLEEILAEGTDLVETAPPPLCASRN 0.0 17:17106187-17106187 G>A 1.0 4000 MELANOMA - - - - PLD6 NM_178836,p.P218L|uc002gqz.3,p.P218L|ENST00000321560,p.P218L protein_coding uc002gqz.3 nonsynonymous SNV exon2 c.C653T p.P218L WEQFNPTKYTFFPPKKSHGSCAPPV WEQFNPTKYTFFLPKKSHGSCAPPV 6.0 9.0 - - 4000_17:17106187-17106187 G>A_WEQFNPTKYTFFLPKKSHGSCAPPV 0.0 12:8374542-8374542 A>T 0.0 4335 COLORECTAL - - - - FAM90A1 uc001quh.2,p.L424H|uc001qui.2,p.L424H|ENST00000307435,p.L424H|NM_018088,p.L424H|ENST00000538603,p.L424H protein_coding uc001qui.2 nonsynonymous SNV exon7 c.T1271A p.L424H PSFHSPEKPGAFLAQSPHVSEKSEG PSFHSPEKPGAFHAQSPHVSEKSEG 8.0 8.0 - - 4335_12:8374542-8374542 A>T_PSFHSPEKPGAFHAQSPHVSEKSEG 0.0 17:67190591-67190591 C>T 0.0 2591 MELANOMA - - - - ABCA10 ENST00000416101,p.G427E|uc010dfb.1,p.G28E|ENST00000523419,p.G427E|ENST00000269081,p.G427E|NM_080282,p.G427E|uc010dfa.1,p.G427E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010dfb.1 nonsynonymous SNV exon5 c.G83A p.G28E FDIYEGQITAILGHNGAGKSTLLNI FDIYEGQITAILEHNGAGKSTLLNI 2.0 8.0 - - 2591_17:67190591-67190591 C>T_FDIYEGQITAILEHNGAGKSTLLNI 0.0 17:37263770-37263770 A>T 0.0 4329 COLORECTAL - - - - PLXDC1 uc002hrg.2,p.F201I|ENST00000578390,p.F201I|ENST00000444911,p.F161I|ENST00000539608,p.F128I|ENST00000394316,p.F201I|ENST00000315392,p.F201I|NM_020405,p.F201I|ENST00000441877,p.F128I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002hrg.2 nonsynonymous SNV exon6 c.T601A p.F201I NSTVVYFDNGTVFVVQWDHVYLQGW NSTVVYFDNGTVIVVQWDHVYLQGW 8.0 2.0 - - 4329_17:37263770-37263770 A>T_NSTVVYFDNGTVIVVQWDHVYLQGW 0.0 1:156640937-156640937 C>T 1.0 2591 MELANOMA - - - - NES NM_006617,p.E1015K|uc001fpq.3,p.E1015K|ENST00000368223,p.E1015K protein_coding uc001fpq.3 nonsynonymous SNV exon4 c.G3043A p.E1015K TEEVWIPGEGHPESPEPKEQRGLVE TEEVWIPGEGHPKSPEPKEQRGLVE 10.0 8.0 - - 2591_1:156640937-156640937 C>T_TEEVWIPGEGHPKSPEPKEQRGLVE 0.0 5:64037022-64037022 G>A 1.0 4110 BILE DUCT - - - - SREK1IP1 ENST00000513458,p.H23Y|uc003jtk.3,p.H23Y|NM_173829,p.H23Y retained_intron, protein_coding, processed_transcript uc003jtk.3 nonsynonymous SNV exon3 c.C67T p.H23Y VRAGCKKCGYPGHLTFECRNFLRVD VRAGCKKCGYPGYLTFECRNFLRVD 9.0 10.0 - - 4110_5:64037022-64037022 G>A_VRAGCKKCGYPGYLTFECRNFLRVD 0.0 12:4479657-4479657 G>A 0.0 4298 COLORECTAL - - - - FGF23 ENST00000237837,p.P203L|NM_020638,p.P203L|uc001qmq.1,p.P203L protein_coding uc001qmq.1 nonsynonymous SNV exon3 c.C608T p.P203L NVLKPRARMTPAPASCSQELPSAED NVLKPRARMTPALASCSQELPSAED 3.0 9.0 - - 4298_12:4479657-4479657 G>A_NVLKPRARMTPALASCSQELPSAED 0.0 10:114920450-114920450 G>C 1.0 4071 COLORECTAL - - ID=COSM1345851;OCCURENCE=1(large_intestine) 1 TCF7L2 uc010qrr.2,p.R396T|NM_001146274,p.R464T|ENST00000545257,p.R481T|uc001lae.4,p.R464T|ENST00000543371,p.R464T|uc021pyk.1,p.R446T|uc010qrt.2,p.R352T|uc021pyn.1,p.R469T|uc010qrl.2,p.R441T|NM_001198526,p.R441T protein_coding, processed_transcript, nonsense_mediated_decay uc021pyn.1 nonsynonymous SNV exon13 c.G1406C p.R469T GLDRQTLWCKPCRRKKKCVRYIQGE GLDRQTLWCKPCTRKKKCVRYIQGE 8.0 7.0 - - 4071_10:114920450-114920450 G>C_GLDRQTLWCKPCTRKKKCVRYIQGE 0.0 X:2408423-2408423 T>C 0.0 4186 BREAST - - ID=COSM1119429;OCCURENCE=1(endometrium) - ZBED1 uc022brw.1,p.K113R|ENST00000461691,p.K113R|ENST00000381218,p.K113R|NM_004729,p.K113R|uc004cqh.2,p.K113R|uc004cqg.2,p.K113R|NM_001171136,p.K113R|uc022brx.1,p.K113R|ENST00000381223,p.K113R|NM_001171135,p.K113R|ENST00000381222,p.K113R protein_coding uc022brx.1 nonsynonymous SNV exon1 c.A338G p.K113R SSQQPGQDALAVKAGHGYDSKKQQE SSQQPGQDALAVRAGHGYDSKKQQE 7.0 9.0 - - 4186_X:2408423-2408423 T>C_SSQQPGQDALAVRAGHGYDSKKQQE 0.0 5:140788781-140788781 C>T 0.0 3903 MELANOMA - - - - PCDHGB6 NM_018926,p.L338F|uc003lki.1,p.L338F|NM_032100,p.L338F|uc003lkj.2,p.L338F|ENST00000520790,p.L338F protein_coding uc003lkj.2 nonsynonymous SNV exon1 c.C1012T p.L338F GLSTQCKVIIEILDENDNSPEIIIT GLSTQCKVIIEIFDENDNSPEIIIT 4.0 5.0 - - 3903_5:140788781-140788781 C>T_GLSTQCKVIIEIFDENDNSPEIIIT 0.0 12:45742378-45742379 CT>- 1.0 4213 COLORECTAL - - - - ANO6 uc010sld.1,p.N237fs|uc010slf.2,p.N258fs|ENST00000423947,p.N258fs|ENST00000435642,p.N237fs|NM_001142679,p.N237fs|uc010slg.2,p.N219fs|ENST00000320560,p.N237fs|NM_001142678,p.N219fs|ENST00000441606,p.N219fs|NM_001025356,p.N237fs|uc001roo.3,p.N237fs|ENST00000425752,p.N237fs|NM_001204803,p.N258fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010slg.2 frameshift deletion exon6 c.657_658del p.N219fs NNVSKFGINRLVNSGIYKAAFPLHD NNVSKFGINRLVNWDLQGSFPTP 9.0 4.0 - - 4213_12:45742378-45742379 CT>-_NNVSKFGINRLVNWDLQGSFPTP 0.0 13:39587525-39587525 G>A 1.0 3713 MELANOMA - - - - PROSER1 ENST00000350125,p.P600S|NM_025138,p.P622S|uc001uwy.4,p.P622S|ENST00000352251,p.P622S protein_coding, processed_transcript uc001uwy.4 nonsynonymous SNV exon11 c.C1864T p.P622S EPTSPTPSAFKGPSHSGNPSHGTLG EPTSPTPSAFKGSSHSGNPSHGTLG 7.0 10.0 - - 3713_13:39587525-39587525 G>A_EPTSPTPSAFKGSSHSGNPSHGTLG 0.0 18:59828574-59828574 A>G 1.0 3713 MELANOMA - - - - PIGN ENST00000588571,p.F5L|ENST00000587134,p.F5L|ENST00000589339,p.F5L|NM_012327,p.F5L|ENST00000585344,p.F5L|NM_176787,p.F5L|ENST00000585926,p.F5L|ENST00000400334,p.F5L|uc021ulb.1,p.F5L|ENST00000357637,p.F5L|ENST00000589720,p.F5L|ENST00000585923,p.F5L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021ulb.1 nonsynonymous SNV exon1 c.T13C p.F5L MLLFFTLGLLIHFVFFA MLLFLTLGLLIHFVFFA 7.0 5.0 - - 3713_18:59828574-59828574 A>G_MLLFLTLGLLIHFVFFA 0.0 1:218609465-218609465 C>T 0.0 4316 COLORECTAL - - - - TGFB2 ENST00000366930,p.A303V|uc001hlm.3,p.A303V|NM_003238,p.A303V|NM_001135599,p.A331V|uc001hln.3,p.A331V|ENST00000366929,p.A331V protein_coding, processed_transcript uc001hln.3 nonsynonymous SNV exon6 c.C992T p.A331V LESQQTNRRKKRALDAAYCFRNVQD LESQQTNRRKKRVLDAAYCFRNVQD 2.0 8.0 - - 4316_1:218609465-218609465 C>T_LESQQTNRRKKRVLDAAYCFRNVQD 0.0 8:48647912-48647912 T>C 1.0 4326 BREAST - - - - SPIDR uc003xqd.3,p.L883S|uc011ldf.2,p.L388S|uc003xqe.3,p.L358S|NM_001080394,p.L883S|ENST00000297423,p.L883S|uc011ldg.2,p.L373S|ENST00000517693,p.L358S|uc011ldc.2,p.L813S|NM_001282916,p.L813S|ENST00000541342,p.L813S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011ldg.2 nonsynonymous SNV exon10 c.T1118C p.L373S EVKSVLGKEVGLLNCFVQSVTAHPT EVKSVLGKEVGLSNCFVQSVTAHPT 10.0 1.0 - - 4326_8:48647912-48647912 T>C_EVKSVLGKEVGLSNCFVQSVTAHPT 0.0 7:126173719-126173719 G>A 0.0 3903 MELANOMA - - - - GRM8 uc003vlr.2,p.P573S|NM_000845,p.P573S|uc003vlt.2,p.P573S|ENST00000358373,p.P573S|ENST00000339582,p.P573S|ENST00000472701,p.P573S|ENST00000444921,p.P573S|NM_001127323,p.P573S protein_coding, processed_transcript, nonsense_mediated_decay uc003vlt.2 nonsynonymous SNV exon9 c.C1717T p.P573S RPNMNRTGCQLIPIIKLEWHSPWAV RPNMNRTGCQLISIIKLEWHSPWAV 1.0 5.0 - - 3903_7:126173719-126173719 G>A_RPNMNRTGCQLISIIKLEWHSPWAV 0.0 16:83999125-83999125 G>A 1.0 3775 CERVICAL - - - - OSGIN1 uc002fhb.4,p.R316H|uc002fhc.3,p.R316H|ENST00000343939,p.R399H|ENST00000361711,p.R316H|NM_182981,p.R316H|uc002fha.4,p.R399H|ENST00000393306,p.R316H protein_coding, processed_transcript uc002fhc.3 nonsynonymous SNV exon6 c.G947A p.R316H ARHYNIPVIHAFRRAVDDPGLVFNQ ARHYNIPVIHAFHRAVDDPGLVFNQ 4.0 5.0 - - 3775_16:83999125-83999125 G>A_ARHYNIPVIHAFHRAVDDPGLVFNQ 0.0 14:76259262-76259262 C>T 1.0 3879 MELANOMA - - - - TTLL5 uc001xsa.3,p.S71L|uc010ask.2,p.S1012L|ENST00000557636,p.S1012L retained_intron, protein_coding, processed_transcript uc010ask.2 nonsynonymous SNV exon28 c.C3035T p.S1012L KLSRPSSAKAAGSCYLNKHHSGIAK KLSRPSSAKAAGLCYLNKHHSGIAK 7.0 9.0 - - 3879_14:76259262-76259262 C>T_KLSRPSSAKAAGLCYLNKHHSGIAK 0.0 6:100395683-100395683 T>G 0.0 4095 COLORECTAL - - - - MCHR2 NM_001040179,p.N116T|uc003pqi.1,p.N116T|NM_032503,p.N116T|ENST00000281806,p.N116T|uc003pqh.1,p.N116T|ENST00000369212,p.N116T|ENST00000445970,p.N116T protein_coding uc003pqi.1 nonsynonymous SNV exon3 c.A347C p.N116T PLCTIITSLDTCNQFACSAIMTVMS PLCTIITSLDTCTQFACSAIMTVMS 2.0 10.0 - - 4095_6:100395683-100395683 T>G_PLCTIITSLDTCTQFACSAIMTVMS 0.0 22:24836819-24836819 T>G 0.0 4284 COLORECTAL - - - - ADORA2A uc010guq.3,p.F201V|ENST00000337539,p.F201V|NM_001278497,p.F201V|NM_001278499,p.F201V|uc010gup.3,p.F201V|uc011ajs.2,p.F62V|NM_001278500,p.F201V|uc003aab.3,p.F201V|ENST00000444262,p.F201V|uc002zzx.3,p.F201V|NM_001278498,p.F201V|uc002zzy.4,p.F201V|NM_000675,p.F201V protein_coding, processed_transcript uc011ajs.2 nonsynonymous SNV exon2 c.T184G p.F62V PLLLMLGVYLRIFLAARRQLKQMES PLLLMLGVYLRIVLAARRQLKQMES 4.0 6.0 - - 4284_22:24836819-24836819 T>G_PLLLMLGVYLRIVLAARRQLKQMES 0.0 14:23842509-23842509 C>T 0.0 4110 BILE DUCT - - - - IL25 NM_172314,p.P45L|uc001wjr.3,p.P61L|uc001wjq.3,p.P45L|ENST00000329715,p.P61L|ENST00000397242,p.P45L|NM_022789,p.P61L protein_coding uc001wjr.3 nonsynonymous SNV exon1 c.C182T p.P61L EELLRWSTVPVPPLEPARPNRHPES EELLRWSTVPVPLLEPARPNRHPES 1.0 6.0 - - 4110_14:23842509-23842509 C>T_EELLRWSTVPVPLLEPARPNRHPES 0.0 7:56065082-56065082 G>A 1.0 4078 GASTRIC - - - - GBAS NM_001483,p.E246K|uc003trf.2,p.E207K|ENST00000446778,p.E207K|NM_001202469,p.E207K|ENST00000322090,p.E246K|uc003tre.2,p.E246K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003trf.2 nonsynonymous SNV exon7 c.G619A p.E207K HHLWAYRDLQTREDIRNAAWHKHGW HHLWAYRDLQTRKDIRNAAWHKHGW 8.0 3.0 CD8 - 4078_7:56065082-56065082 G>A_HHLWAYRDLQTRKDIRNAAWHKHGW 1.0 1:118476110-118476110 G>T 0.0 4155 MELANOMA - - - - WDR3 ENST00000349139,p.E56D|uc010oxe.1,p.E56D|NM_006784,p.E56D protein_coding, processed_transcript uc010oxe.1 nonsynonymous SNV exon2 c.G168T p.E56D CEHVFIWDLRKGEKILILQGLKQEV CEHVFIWDLRKGDKILILQGLKQEV 7.0 8.0 - - 4155_1:118476110-118476110 G>T_CEHVFIWDLRKGDKILILQGLKQEV 0.0 20:16359621-16359621 A>G 1.0 3784 MELANOMA - - - - KIF16B uc002wpf.1,p.L391P|uc010gci.2,p.L1009P|ENST00000355755,p.L1009P|uc002wpe.1,p.L391P|uc002wpg.2,p.L1009P|NM_001199865,p.L1009P|NM_001199866,p.L1009P|NM_024704,p.L1009P|uc010gcj.2,p.L1020P|uc010gch.2,p.L1009P|ENST00000378003,p.L235P|ENST00000354981,p.L1009P|ENST00000408042,p.L1009P protein_coding uc010gcj.2 nonsynonymous SNV exon20 c.T3059C p.L1020P REKQQREALERALARLERRHSALQR REKQQREALERAPARLERRHSALQR 7.0 7.0 CD8 - 3784_20:16359621-16359621 A>G_REKQQREALERAPARLERRHSALQR 1.0 11:59410471-59410473 AGA>- 1.0 4298 COLORECTAL - - - - PATL1 NM_152716,p.643_644del|uc009yms.1,p.613_614del|ENST00000300146,p.643_644del|uc001noe.4,p.643_644del retained_intron, protein_coding uc009yms.1 nonframeshift deletion exon15 c.1839_1841del p.613_614del EVLPCLLSPFSLLLYHLPSVSITSL EVLPCLLSPFSLLYHLPSVSITSLL 8.0 6.0 - - 4298_11:59410471-59410473 AGA>-_EVLPCLLSPFSLLYHLPSVSITSLL 0.0 13:100617811-100617811 G>T 1.0 4110 BILE DUCT - - - - ZIC5 NM_033132,p.D604E|uc001vom.1,p.D604E|ENST00000267294,p.D604E protein_coding uc001vom.1 nonsynonymous SNV exon2 c.C1812A p.D604E GTPVGAPLSPVLDPARSHSSTLSPQ GTPVGAPLSPVLEPARSHSSTLSPQ 3.0 9.0 - - 4110_13:100617811-100617811 G>T_GTPVGAPLSPVLEPARSHSSTLSPQ 0.0 1:146743910-146743910 C>T 1.0 4155 MELANOMA - - - - CHD1L uc009wji.4,p.P132L|ENST00000369258,p.P413L|uc001epn.5,p.P300L|NM_001256337,p.P132L|ENST00000361293,p.P132L|NM_001256336,p.P313L|uc010ozp.3,p.P132L|uc031pok.1,p.P313L|NM_024568,p.P300L|ENST00000369259,p.P209L|NM_001256338,p.P209L|uc001epo.5,p.P209L|NM_004284,p.P413L|uc001epm.5,p.P413L protein_coding, processed_transcript uc031pok.1 nonsynonymous SNV exon11 c.C938T p.P313L ERHLAIKNFGQQPIFVFLLSTRAGG ERHLAIKNFGQQLIFVFLLSTRAGG 9.0 5.0 - - 4155_1:146743910-146743910 C>T_ERHLAIKNFGQQLIFVFLLSTRAGG 0.0 20:37547185-37547185 C>T 0.0 4275 COLORECTAL - - - - PPP1R16B uc002xje.3,p.P527L|ENST00000299824,p.P527L|NM_015568,p.P527L|ENST00000373331,p.P485L|uc010ggc.3,p.P485L|NM_001172735,p.P485L protein_coding, processed_transcript uc010ggc.3 nonsynonymous SNV exon10 c.C1454T p.P485L EGKAPLIGGRTSPYSSNGTSVYYTV EGKAPLIGGRTSLYSSNGTSVYYTV 5.0 3.0 - - 4275_20:37547185-37547185 C>T_EGKAPLIGGRTSLYSSNGTSVYYTV 0.0 8:120814162-120814162 C>G 0.0 4129 NSCLC - - - - TAF2 uc003you.3,p.E222Q|NM_003184,p.E222Q|ENST00000378164,p.E222Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003you.3 nonsynonymous SNV exon6 c.G664C p.E222Q AAMVAVSNGDLVETVYTHDMRKKTF AAMVAVSNGDLVQTVYTHDMRKKTF 10.0 9.0 - - 4129_8:120814162-120814162 C>G_AAMVAVSNGDLVQTVYTHDMRKKTF 0.0 20:30371683-30371683 C>T 1.0 3713 MELANOMA - - - - TPX2 uc002wwp.1,p.H458Y|ENST00000300403,p.H458Y|uc010gdv.1,p.H494Y|ENST00000340513,p.H494Y|NM_012112,p.H458Y protein_coding uc010gdv.1 nonsynonymous SNV exon13 c.C1480T p.H494Y SKKKTEDEHFEFHSRPCPTKILEDV SKKKTEDEHFEFYSRPCPTKILEDV 7.0 6.0 CD8 - 3713_20:30371683-30371683 C>T_SKKKTEDEHFEFYSRPCPTKILEDV 1.0 8:87568417-87568417 C>T 1.0 3713 MELANOMA - - - - CPNE3 ENST00000198765,p.P448S|NM_003909,p.P448S|uc003ydw.1,p.P164S|ENST00000521271,p.P448S|uc003ydv.2,p.P448S retained_intron, protein_coding uc003ydw.1 nonsynonymous SNV exon6 c.C490T p.P164S ETRQAIVNASRLPMSIIIVGVGGAD ETRQAIVNASRLSMSIIIVGVGGAD 8.0 2.0 - - 3713_8:87568417-87568417 C>T_ETRQAIVNASRLSMSIIIVGVGGAD 0.0 1:228582879-228582879 C>A 1.0 4126 NSCLC - - - - TRIM11 uc010pvx.2,p.G311W|uc001hss.3,p.G312W|ENST00000493030,p.G187W|ENST00000284551,p.G312W|NM_145214,p.G312W protein_coding, processed_transcript uc010pvx.2 nonsynonymous SNV exon6 c.G931T p.G311W LILSEDRRSVQRGDLRQALPDSPER LILSEDRRSVQRWDLRQALPDSPER 9.0 10.0 CD8 - 4126_1:228582879-228582879 C>A_LILSEDRRSVQRWDLRQALPDSPER 1.0 3:49044919-49044919 C>T 1.0 3879 MELANOMA - - - - WDR6 ENST00000452875,p.L19F|uc011bby.1,p.L49F|uc003cvj.2,p.L49F|ENST00000488572,p.L19F|ENST00000438660,p.L19F|ENST00000395474,p.L49F|NM_018031,p.L49F|uc011bbx.1,p.L49F|ENST00000415265,p.L19F|ENST00000420783,p.L19F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bby.1 nonsynonymous SNV exon1 c.C145T p.L49F YVWPRATSELILLPVTGLECVGDRL YVWPRATSELILFPVTGLECVGDRL 6.0 10.0 - - 3879_3:49044919-49044919 C>T_YVWPRATSELILFPVTGLECVGDRL 0.0 19:12244240-12244240 G>A 1.0 2369 MELANOMA - - - - ZNF20 ENST00000334213,p.A254V|NM_001203250,p.A251V|uc002mtg.2,p.A254V|uc002mtf.2,p.A254V|uc002mte.2,p.A219V|uc021upm.1,p.A251V|NM_021143,p.A254V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021upm.1 nonsynonymous SNV exon4 c.C752T p.A251V LPVHERTHTGVNADECKECGNAFSF LPVHERTHTGVNVDECKECGNAFSF 5.0 10.0 - - 2369_19:12244240-12244240 G>A_LPVHERTHTGVNVDECKECGNAFSF 0.0 14:61115697-61115697 C>G 1.0 4134 NSCLC - - - - SIX1 uc001xfb.4,p.E71Q|ENST00000247182,p.E71Q|NM_005982,p.E71Q retained_intron, protein_coding uc001xfb.4 nonsynonymous SNV exon1 c.G211C p.E71Q HRGNFRELYKILESHQFSPHNHPKL HRGNFRELYKILQSHQFSPHNHPKL 5.0 7.0 - - 4134_14:61115697-61115697 C>G_HRGNFRELYKILQSHQFSPHNHPKL 0.0 13:99484037-99484037 G>C 1.0 3775 CERVICAL - - - - DOCK9 uc010tir.1,p.Q1418E|ENST00000449796,p.Q161E|uc010tio.1,p.Q110E|uc010tip.1,p.Q128E|ENST00000340449,p.Q61E|uc001vnr.2,p.Q61E|ENST00000376460,p.Q1417E|uc001vnw.2,p.Q1417E|uc001vnt.2,p.Q1418E|uc021rlw.1,p.Q1417E|uc010tin.1,p.Q61E|ENST00000339416,p.Q1418E|uc010tiq.1,p.Q396E protein_coding, processed_transcript uc021rlw.1 nonsynonymous SNV exon40 c.C4249G p.Q1417E DTLSLFTLAFKNQLLADHGHNPLMK DTLSLFTLAFKNELLADHGHNPLMK 9.0 5.0 - - 3775_13:99484037-99484037 G>C_DTLSLFTLAFKNELLADHGHNPLMK 0.0 16:9185938-9185938 C>G 1.0 4000 MELANOMA - - - - C16orf72 NM_014117,p.Q13E|uc002czm.3,p.Q13E|ENST00000327827,p.Q13E protein_coding uc002czm.3 nonsynonymous SNV exon1 c.C37G p.Q13E MEERKEEGEAEIQEHGPEHWFSKWE MEERKEEGEAEIEEHGPEHWFSKWE 7.0 4.0 - - 4000_16:9185938-9185938 C>G_MEERKEEGEAEIEEHGPEHWFSKWE 0.0 2:32756504-32756504 A>T 1.0 4196 COLORECTAL - - - 2 BIRC6 ENST00000421745,p.E4059D|NM_016252,p.E4059D|uc010ezu.3,p.E4059D retained_intron, protein_coding, nonsense_mediated_decay uc010ezu.3 nonsynonymous SNV exon61 c.A12177T p.E4059D TPGDECMDGILDESLLETCPIQSPL TPGDECMDGILDDSLLETCPIQSPL 10.0 6.0 - - 4196_2:32756504-32756504 A>T_TPGDECMDGILDDSLLETCPIQSPL 0.0 1:196918731-196918731 C>T 0.0 4235 COLORECTAL - - - - CFHR2 ENST00000367415,p.R69C|ENST00000367421,p.R69C|NM_005666,p.R69C|uc001gtq.1,p.R69C protein_coding, processed_transcript uc001gtq.1 nonsynonymous SNV exon2 c.C205T p.R69C YNFVSPSKSFWTRITCAEEGWSPTP YNFVSPSKSFWTCITCAEEGWSPTP 1.0 5.0 - - 4235_1:196918731-196918731 C>T_YNFVSPSKSFWTCITCAEEGWSPTP 0.0 17:76198784-76198784 C>T 1.0 3713 MELANOMA - - - - AFMID ENST00000588800,p.A52V|uc002jvb.3,p.A52V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002jvb.3 nonsynonymous SNV exon3 c.C155T p.A52V EALRTYSQIGIEALPFFLFFHGGYW EALRTYSQIGIEVLPFFLFFHGGYW 9.0 6.0 CD8 - 3713_17:76198784-76198784 C>T_EALRTYSQIGIEVLPFFLFFHGGYW 1.0 3:52550201-52550201 G>A 0.0 4155 MELANOMA - - - - STAB1 NM_015136,p.G1364E|ENST00000321725,p.G1364E|uc003dej.3,p.G1364E retained_intron, protein_coding uc003dej.3 nonsynonymous SNV exon38 c.G4091A p.G1364E GSGECHCHEGFHGTACEVCELGRYG GSGECHCHEGFHETACEVCELGRYG 9.0 4.0 - - 4155_3:52550201-52550201 G>A_GSGECHCHEGFHETACEVCELGRYG 0.0 17:73895350-73895350 G>T 1.0 3919 MELANOMA - - - - MRPL38 uc010wso.1,p.R299S|NM_032478,p.R299S|ENST00000409963,p.R115S|ENST00000309352,p.R299S retained_intron, protein_coding, processed_transcript uc010wso.1 nonsynonymous SNV exon8 c.C895A p.R299S PSPCYQLAQRTFRTFDFYKKHQETM PSPCYQLAQRTFSTFDFYKKHQETM 5.0 3.0 - - 3919_17:73895350-73895350 G>T_PSPCYQLAQRTFSTFDFYKKHQETM 0.0 9:96715451-96715451 T>A 0.0 4110 BILE DUCT - - - - BARX1 NM_021570,p.Q81L|ENST00000253968,p.Q81L|uc010mrh.3,p.Q81L protein_coding uc010mrh.3 nonsynonymous SNV exon2 c.A242T p.Q81L PFHSHLAVLKAEQAAVFKFPLAPLG PFHSHLAVLKAELAAVFKFPLAPLG 1.0 10.0 - - 4110_9:96715451-96715451 T>A_PFHSHLAVLKAELAAVFKFPLAPLG 0.0 17:48431105-48431105 C>T 0.0 4235 COLORECTAL - - - - XYLT2 ENST00000376550,p.R84C|ENST00000507602,p.R84C|uc002iqo.3,p.R84C|ENST00000017003,p.R84C|NM_022167,p.R84C retained_intron, protein_coding, nonsense_mediated_decay uc002iqo.3 nonsynonymous SNV exon2 c.C250T p.R84C GSTGRRHGRWRGRAESPGVPVAKVV GSTGRRHGRWRGCAESPGVPVAKVV 7.0 10.0 - - 4235_17:48431105-48431105 C>T_GSTGRRHGRWRGCAESPGVPVAKVV 0.0 3:180324156-180324156 G>T 1.0 4298 COLORECTAL - - - - TTC14 uc003fkl.3,p.A349S|ENST00000470669,p.A349S|NM_001288582,p.A349S|NM_133462,p.A349S|uc003fkm.2,p.A349S|uc003fkk.3,p.A349S|ENST00000412756,p.A349S|ENST00000382584,p.A349S|NM_001042601,p.A349S|ENST00000296015,p.A349S protein_coding, processed_transcript, nonsense_mediated_decay uc003fkm.2 nonsynonymous SNV exon8 c.G1045T p.A349S DKQNVEALVARGALYATKGSLNKAI DKQNVEALVARGSLYATKGSLNKAI 9.0 9.0 - - 4298_3:180324156-180324156 G>T_DKQNVEALVARGSLYATKGSLNKAI 0.0 6:89601552-89601552 T>G 1.0 4071 COLORECTAL - - - - RNGTT uc003pmt.2,p.K256T|ENST00000538899,p.K196T|NM_001286426,p.K256T|NM_001286428,p.K196T|ENST00000369485,p.K256T|uc003pmr.2,p.K256T|uc003pms.2,p.K256T|NM_003800,p.K256T|ENST00000265607,p.K256T|uc011dzu.1,p.K196T|ENST00000369475,p.K256T protein_coding uc011dzu.1 nonsynonymous SNV exon6 c.A587C p.K196T VTTQPKLGEVQQKCHQFCGWEGSGF VTTQPKLGEVQQTCHQFCGWEGSGF 6.0 5.0 - - 4071_6:89601552-89601552 T>G_VTTQPKLGEVQQTCHQFCGWEGSGF 0.0 16:11931910-11931910 G>A 1.0 4155 MELANOMA - - - - RSL1D1 ENST00000355674,p.R402C|NM_015659,p.R403C|uc010buv.1,p.R402C|ENST00000542106,p.R183C|ENST00000571133,p.R403C|uc002dbp.1,p.R403C|uc010uyw.1,p.R183C retained_intron, protein_coding, nonsense_mediated_decay uc010uyw.1 nonsynonymous SNV exon8 c.C547T p.R183C KSPAKSPNPSTPRGKKRKALPASET KSPAKSPNPSTPCGKKRKALPASET 10.0 7.0 CD8 - 4155_16:11931910-11931910 G>A_KSPAKSPNPSTPCGKKRKALPASET 1.0 11:72399554-72399554 A>G 1.0 4301 MELANOMA - - - - ARAP1 ENST00000393609,p.I1339T|NM_001040118,p.I1339T|uc001oss.3,p.I1094T|uc001osr.3,p.I1099T|uc001osu.3,p.I1339T|ENST00000334211,p.I1094T|NM_015242,p.I1094T|ENST00000393605,p.I1099T retained_intron, protein_coding, processed_transcript uc001osu.3 nonsynonymous SNV exon31 c.T4016C p.I1339T PETSHRPEKEWPIKSLKVYLGVKKK PETSHRPEKEWPTKSLKVYLGVKKK 9.0 9.0 - - 4301_11:72399554-72399554 A>G_PETSHRPEKEWPTKSLKVYLGVKKK 0.0 19:38573527-38573527 A>C 1.0 4345 COLORECTAL - - - - SIPA1L3 ENST00000222345,p.N441T|NM_015073,p.N441T|uc002ohk.3,p.N441T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002ohk.3 nonsynonymous SNV exon3 c.A1322C p.N441T HFRNEIGGECERNVSFSRASVGSPS HFRNEIGGECERTVSFSRASVGSPS 7.0 5.0 - - 4345_19:38573527-38573527 A>C_HFRNEIGGECERTVSFSRASVGSPS 0.0 14:20779867-20779867 G>A 1.0 3678 MELANOMA - - - 1 CCNB1IP1 ENST00000398169,p.R226W|ENST00000358932,p.R226W|ENST00000398160,p.R226W|uc001vwx.4,p.R226W|NM_182852,p.R226W|ENST00000437553,p.R226W|uc001vwv.4,p.R226W|NM_182849,p.R226W|uc001vwz.4,p.R226W|uc021rnp.2,p.R226W|NM_021178,p.R226W|ENST00000398163,p.R226W|ENST00000353689,p.R226W|uc001vwy.4,p.R226W protein_coding, processed_transcript, nonsense_mediated_decay uc021rnp.2 nonsynonymous SNV exon8 c.C676T p.R226W SKFPLDNTPVRNRGDGDGDFQFRPF SKFPLDNTPVRNWGDGDGDFQFRPF 9.0 6.0 - - 3678_14:20779867-20779867 G>A_SKFPLDNTPVRNWGDGDGDFQFRPF 0.0 1:186648506-186648506 C>G 0.0 4158 COLORECTAL - - - - PTGS2 NM_000963,p.Q39H|uc001gsb.3,p.Q39H|ENST00000367468,p.Q39H|ENST00000559627,p.Q39H protein_coding, processed_transcript, nonsense_mediated_decay uc001gsb.3 nonsynonymous SNV exon2 c.G117C p.Q39H QNRGVCMSVGFDQYKCDCTRTGFYG QNRGVCMSVGFDHYKCDCTRTGFYG 4.0 4.0 - - 4158_1:186648506-186648506 C>G_QNRGVCMSVGFDHYKCDCTRTGFYG 0.0 11:111631655-111631655 G>C 0.0 3775 CERVICAL - - - - PPP2R1B uc010rwi.1,p.L79V|ENST00000341980,p.L143V|ENST00000311129,p.L143V|uc001plw.1,p.L143V|NM_181700,p.L79V|ENST00000426998,p.L79V|NM_181699,p.L143V|ENST00000527614,p.L143V|uc010rwk.1,p.L143V|NM_002716,p.L143V|uc001plx.1,p.L143V|NM_001177562,p.L143V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010rwk.1 nonsynonymous SNV exon4 c.C427G p.L143V HTPVALEAYFVPLVKRLASGDWFTS HTPVALEAYFVPVVKRLASGDWFTS 6.0 9.0 - - 3775_11:111631655-111631655 G>C_HTPVALEAYFVPVVKRLASGDWFTS 0.0 4:114277816-114277816 T>- 0.0 4317 COLORECTAL - - - - ANK2 ENST00000357077,p.L2681fs|uc003ibe.4,p.L2681fs|uc011cgb.1,p.L2696fs|ENST00000264366,p.L2648fs|NM_001148,p.L2681fs retained_intron, protein_coding, processed_transcript uc011cgb.1 frameshift deletion exon39 c.8087delT p.L2696fs ELAQLKKGADSGLLPEPVIRVQPPS ELAQLKKGADSGLYQNQ 6.0 7.0 - - 4317_4:114277816-114277816 T>-_ELAQLKKGADSGLYQNQ 0.0 11:123810688-123810688 G>T 0.0 4326 BREAST - - - - OR4D5 uc001pzk.1,p.R122L|ENST00000307033,p.R122L|NM_001001965,p.R122L protein_coding uc001pzk.1 nonsynonymous SNV exon1 c.G365T p.R122L IKIFLLTVMAYDRYIAISQPLHYTL IKIFLLTVMAYDLYIAISQPLHYTL 1.0 5.0 - - 4326_11:123810688-123810688 G>T_IKIFLLTVMAYDLYIAISQPLHYTL 0.0 1:225459731-225459731 C>T 0.0 2359 MELANOMA - - - - DNAH14 uc001how.2,p.P2593S|ENST00000430092,p.P2593S|NM_001373,p.P2593S|ENST00000439375,p.P2593S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001how.2 nonsynonymous SNV exon51 c.C7777T p.P2593S IYHQVRQNMLPTPTKCHYMFNLRDM IYHQVRQNMLPTSTKCHYMFNLRDM 8.0 2.0 - - 2359_1:225459731-225459731 C>T_IYHQVRQNMLPTSTKCHYMFNLRDM 0.0 10:61956379-61956379 C>T 1.0 3466 MELANOMA - - - - ANK3 uc001jkz.4,p.G559E|ENST00000503366,p.G548E|uc001jlb.1,p.G94E|ENST00000280772,p.G565E|NM_001204403,p.G559E|uc010qih.2,p.G548E|uc001jky.3,p.G565E|NM_020987,p.G565E|ENST00000373827,p.G559E|NM_001204404,p.G548E|uc001jlc.1,p.G226E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010qih.2 nonsynonymous SNV exon15 c.G1643A p.G548E DHGASLSITTKKGFTPLHVAAKYGK DHGASLSITTKKEFTPLHVAAKYGK 5.0 4.0 - - 3466_10:61956379-61956379 C>T_DHGASLSITTKKEFTPLHVAAKYGK 0.0 9:80863242-80863242 C>T 1.0 3466 MELANOMA - - - - CEP78 uc004aky.4,p.L310F|NM_032171,p.L310F|ENST00000376598,p.L310F|ENST00000277082,p.L310F|uc011lsp.1,p.L223F|uc010mpp.3,p.L310F|ENST00000424347,p.L310F|ENST00000376597,p.L310F|uc004akx.2,p.L310F|ENST00000415759,p.L310F|NM_001098802,p.L310F retained_intron, protein_coding, processed_transcript uc011lsp.1 nonsynonymous SNV exon7 c.C667T p.L223F DHSMMKAVIKKVLQNGRSAKSEYQW DHSMMKAVIKKVFQNGRSAKSEYQW 6.0 9.0 - - 3466_9:80863242-80863242 C>T_DHSMMKAVIKKVFQNGRSAKSEYQW 0.0 2:219029171-219029171 C>A 0.0 4126 NSCLC - - - - CXCR1 NM_000634,p.W255L|uc002vhc.3,p.W255L|uc021vwq.1,p.W255L|ENST00000295683,p.W255L protein_coding uc021vwq.1 nonsynonymous SNV exon1 c.G764T p.W255L VIFAVVLIFLLCWLPYNLVLLADTL VIFAVVLIFLLCLLPYNLVLLADTL 3.0 6.0 - - 4126_2:219029171-219029171 C>A_VIFAVVLIFLLCLLPYNLVLLADTL 0.0 2:144899585-144899585 T>A 0.0 4298 COLORECTAL - - ID=COSM570044;OCCURENCE=1(lung) - GTDC1 NM_001284233,p.N129Y|uc002tvp.3,p.N129Y|NM_001006636,p.N129Y|uc021vqg.1,p.N129Y|ENST00000241391,p.N129Y|ENST00000392867,p.N129Y|uc002tvr.3,p.N129Y|ENST00000392871,p.N129Y|uc002tvs.3,p.N97Y|uc021vqf.1,p.N129Y|ENST00000392869,p.N129Y|ENST00000542155,p.N129Y|NM_024659,p.N129Y|NM_001284238,p.N97Y|uc002tvo.3,p.N129Y|ENST00000437114,p.N129Y|ENST00000409214,p.N129Y|NM_001284235,p.N129Y|ENST00000344850,p.N129Y|NM_001164629,p.N129Y|uc010fnn.3,p.N129Y|uc002tvt.2,p.N129Y|ENST00000409298,p.N129Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021vqg.1 nonsynonymous SNV exon8 c.A385T p.N129Y LVADVVVFNSVFNMESFLTSMGKFM LVADVVVFNSVFYMESFLTSMGKFM 7.0 4.0 - - 4298_2:144899585-144899585 T>A_LVADVVVFNSVFYMESFLTSMGKFM 0.0 2:179578806-179578806 C>T 0.0 3903 MELANOMA - - - - TTN uc002umz.1,p.S4277N|ENST00000589042,p.S8860N|ENST00000342992,p.S7616N|NM_133378,p.S7616N|uc031rqd.1,p.S8543N|NM_001267550,p.S8860N|NM_001256850,p.S8543N|uc021vsy.2,p.S7616N|ENST00000591111,p.S8543N|uc031rqc.1,p.S8860N retained_intron, protein_coding uc031rqd.1 nonsynonymous SNV exon90 c.G25628A p.S8543N TLECTVAGTPELSTKWFKDGKELTS TLECTVAGTPELNTKWFKDGKELTS 2.0 4.0 - - 3903_2:179578806-179578806 C>T_TLECTVAGTPELNTKWFKDGKELTS 0.0 11:120744821-120744821 C>T 0.0 4235 COLORECTAL - - - - GRIK4 uc009zaw.1,p.A318V|NM_014619,p.A318V|uc009zav.1,p.A318V|uc009zax.1,p.A318V|NM_001282473,p.A318V|NM_001282470,p.A318V|ENST00000438375,p.A318V|ENST00000527524,p.A318V|uc001pxn.2,p.A318V retained_intron, protein_coding, processed_transcript uc009zax.1 nonsynonymous SNV exon8 c.C953T p.A318V ALLFDAVYAVVTAVQELNRSQEIGV ALLFDAVYAVVTVVQELNRSQEIGV 1.0 4.0 - - 4235_11:120744821-120744821 C>T_ALLFDAVYAVVTVVQELNRSQEIGV 0.0 2:188245276-188245276 C>T 0.0 2591 MELANOMA - - - - CALCRL ENST00000410068,p.G109E|uc010frt.4,p.G109E|ENST00000392370,p.G109E|NM_001271751,p.G109E|ENST00000409998,p.G109E|NM_005795,p.G109E|uc002upv.5,p.G109E retained_intron, protein_coding, processed_transcript uc010frt.4 nonsynonymous SNV exon6 c.G326A p.G109E PSEKVTKICDQDGNWFRHPASNRTW PSEKVTKICDQDENWFRHPASNRTW 1.0 9.0 - - 2591_2:188245276-188245276 C>T_PSEKVTKICDQDENWFRHPASNRTW 0.0 2:196837053-196837053 G>C 0.0 4326 BREAST - - - - DNAH7 NM_018897,p.F657L|ENST00000312428,p.F657L|uc002utj.4,p.F657L retained_intron, protein_coding, processed_transcript uc002utj.4 nonsynonymous SNV exon16 c.C1971G p.F657L FSPADMRLNNSVFQWYGRMGEIFEE FSPADMRLNNSVLQWYGRMGEIFEE 4.0 9.0 - - 4326_2:196837053-196837053 G>C_FSPADMRLNNSVLQWYGRMGEIFEE 0.0 15:83926220-83926220 C>T 1.0 4129 NSCLC - - - - BNC1 NM_001301206,p.A980T|ENST00000345382,p.A987T|uc002bjt.1,p.A987T|NM_001717,p.A987T|uc010uos.1,p.A975T|ENST00000569704,p.A980T protein_coding uc010uos.1 nonsynonymous SNV exon5 c.G2923A p.A975T RHSQNPNLHKSLASSPSHLQ RHSQNPNLHKSLTSSPSHLQ 9.0 4.0 - - 4129_15:83926220-83926220 C>T_RHSQNPNLHKSLTSSPSHLQ 0.0 12:41386938-41386938 ->GGAAATAT 0.0 4266 COLORECTAL - - - - CNTN1 ENST00000551295,p.E660fs|uc031qgz.1,p.E649fs|ENST00000347616,p.E660fs|NM_001843,p.E660fs|ENST00000348761,p.E649fs|uc001rmm.2,p.E660fs|NM_175038,p.E649fs protein_coding, processed_transcript, nonsense_mediated_decay uc031qgz.1 frameshift insertion exon15 c.1947_1948insGGAAATAT p.E649fs DWKDAKTDPPIIEGNMEAARAVDLI DWKDAKTDPPIIEGNMEIWRQQEQWT 3.0 8.0 - - 4266_12:41386938-41386938 ->GGAAATAT_DWKDAKTDPPIIEGNMEIWRQQEQWT 0.0 2:131258188-131258188 C>T 1.0 4316 COLORECTAL - rs4114328 ID=COSN215909;OCCURENCE=1(central_nervous_system) - POTEI ENST00000451531,p.V280I|uc031rpa.1,p.V280I|NM_001277406,p.V280I protein_coding uc031rpa.1 nonsynonymous SNV exon4 c.G838A p.V280I KNKHGLTPLLLGVHEQKQQVVKFLI KNKHGLTPLLLGIHEQKQQVVKFLI 9.0 1.0 - - 4316_2:131258188-131258188 C>T_KNKHGLTPLLLGIHEQKQQVVKFLI 0.0 10:115410247-115410247 T>G 0.0 4078 GASTRIC - - - - NRAP uc001laj.4,p.I245L|uc001lal.4,p.I245L|ENST00000369360,p.I245L|ENST00000360478,p.I245L|ENST00000369358,p.I245L|uc001lak.4,p.I245L|NM_198060,p.I245L|ENST00000359988,p.I245L|NM_006175,p.I245L|NM_001261463,p.I245L protein_coding uc001lal.4 nonsynonymous SNV exon8 c.A733C p.I245L EQQRGKGSFPAMITPAYQIAKRANE EQQRGKGSFPAMLTPAYQIAKRANE 1.0 3.0 - - 4078_10:115410247-115410247 T>G_EQQRGKGSFPAMLTPAYQIAKRANE 0.0 5:13753505-13753505 G>T 0.0 4284 COLORECTAL - - - - DNAH5 uc003jfd.2,p.A3570D|ENST00000265104,p.A3570D|NM_001369,p.A3570D retained_intron, protein_coding, processed_transcript uc003jfd.2 nonsynonymous SNV exon63 c.C10709A p.A3570D GKNLNLSEMLIDAPTISEWNLQGLP GKNLNLSEMLIDDPTISEWNLQGLP 5.0 4.0 - - 4284_5:13753505-13753505 G>T_GKNLNLSEMLIDDPTISEWNLQGLP 0.0 4:52926959-52926959 G>A 0.0 2556 MELANOMA - - - - SPATA18 uc011bzq.2,p.D69N|NM_145263,p.D69N|ENST00000505320,p.D69N|ENST00000295213,p.D69N|ENST00000505038,p.D69N|NM_001297608,p.D69N|uc003gzk.1,p.D69N|uc003gzl.3,p.D69N|ENST00000419395,p.D69N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bzq.2 nonsynonymous SNV exon3 c.G205A p.D69N ILTAAAQEGGRNDGVETIKSRLLPW ILTAAAQEGGRNNGVETIKSRLLPW 3.0 2.0 - - 2556_4:52926959-52926959 G>A_ILTAAAQEGGRNNGVETIKSRLLPW 0.0 19:52376494-52376494 G>A 1.0 4000 MELANOMA - - - - ZNF577 ENST00000451628,p.A191V|uc002pxx.4,p.A191V|ENST00000458390,p.A250V|NM_032679,p.A250V|ENST00000301399,p.A250V|uc010yde.2,p.A250V|uc002pxw.3,p.A184V|uc002pxv.3,p.A243V|ENST00000420592,p.A191V|NM_001135590,p.A191V retained_intron, protein_coding, processed_transcript uc010yde.2 nonsynonymous SNV exon7 c.C749T p.A250V GEKPYRCSKCGKAFSRKCRLNRHQR GEKPYRCSKCGKVFSRKCRLNRHQR 8.0 3.0 - - 4000_19:52376494-52376494 G>A_GEKPYRCSKCGKVFSRKCRLNRHQR 0.0 4:81121289-81121289 C>A 1.0 3713 MELANOMA - - - - PRDM8 ENST00000504452,p.Q19K|NM_001099403,p.Q19K|NM_020226,p.Q19K|ENST00000415738,p.Q19K|uc003hmc.4,p.Q19K|uc010ijo.3,p.Q19K|ENST00000515013,p.Q19K|uc003hmb.4,p.Q19K|ENST00000339711,p.Q19K protein_coding, processed_transcript uc010ijo.3 nonsynonymous SNV exon6 c.C55A p.Q19K QRGIWDGDAKAVQQCLTDIFTSVYT QRGIWDGDAKAVKQCLTDIFTSVYT 2.0 9.0 - - 3713_4:81121289-81121289 C>A_QRGIWDGDAKAVKQCLTDIFTSVYT 0.0 8:52321876-52321876 G>A 0.0 4301 MELANOMA - - - - PXDNL NM_144651,p.P770S|ENST00000356297,p.P770S|ENST00000543296,p.P770S|ENST00000522628,p.P36S|uc003xqu.4,p.P770S retained_intron, protein_coding, nonsense_mediated_decay uc003xqu.4 nonsynonymous SNV exon17 c.C2308T p.P770S RDGIRAPRGLGLPVGSRQPLPPPRL RDGIRAPRGLGLSVGSRQPLPPPRL 4.0 7.0 - - 4301_8:52321876-52321876 G>A_RDGIRAPRGLGLSVGSRQPLPPPRL 0.0 12:49445505-49445505 G>A 1.0 3998 MELANOMA - - - 1 KMT2D NM_003482,p.S654F|ENST00000301067,p.S654F|uc001rta.4,p.S654F retained_intron, protein_coding, processed_transcript uc001rta.4 nonsynonymous SNV exon10 c.C1961T p.S654F SPMSPPPEVSRLSPLPVVSRLSPPP SPMSPPPEVSRLFPLPVVSRLSPPP 10.0 2.0 - - 3998_12:49445505-49445505 G>A_SPMSPPPEVSRLFPLPVVSRLSPPP 0.0 3:31917962-31917962 C>T 1.0 2556 MELANOMA - - - - OSBPL10 NM_001174060,p.R167Q|uc021wuu.1,p.R167Q|uc011axf.2,p.R167Q|ENST00000396556,p.R167Q|NM_017784,p.R167Q|ENST00000438237,p.R167Q retained_intron, protein_coding, processed_transcript uc021wuu.1 nonsynonymous SNV exon3 c.G500A p.R167Q DAKEKQFWVTQLRACAKYHMEMNSK DAKEKQFWVTQLQACAKYHMEMNSK 10.0 7.0 - - 2556_3:31917962-31917962 C>T_DAKEKQFWVTQLQACAKYHMEMNSK 0.0 2:189909939-189909939 C>T 1.0 3784 MELANOMA - - - - COL5A2 NM_000393,p.G1110E|uc002uqk.3,p.G1110E|ENST00000374866,p.G1110E|uc010frx.3,p.G686E retained_intron, protein_coding uc010frx.3 nonsynonymous SNV exon31 c.G2057A p.G686E GQRGDPGSRGPIGPPGRAGKRGLPG GQRGDPGSRGPIEPPGRAGKRGLPG 9.0 8.0 - - 3784_2:189909939-189909939 C>T_GQRGDPGSRGPIEPPGRAGKRGLPG 0.0 17:37880220-37880220 T>C 1.0 4345 COLORECTAL - - ID=COSM14060;OCCURENCE=4(stomach),1(lung),1(endometrium),2(large_intestine),6(small_intestine),14(breast) 1 ERBB2 ENST00000584450,p.L755S|uc002hso.3,p.L755S|uc010cwa.3,p.L740S|uc010cwb.3,p.L755S|ENST00000406381,p.L725S|uc002hsm.3,p.L725S|ENST00000541774,p.L740S|ENST00000269571,p.L755S|ENST00000584601,p.L725S|ENST00000445658,p.L479S|uc002hsp.3,p.L558S|NM_004448,p.L755S|NM_001289936,p.L740S|NM_001289937,p.L755S|uc010wek.2,p.L479S|NM_001005862,p.L725S|ENST00000540147,p.L725S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wek.2 nonsynonymous SNV exon13 c.T1436C p.L479S GENVKIPVAIKVLRENTSPKANKEI GENVKIPVAIKVSRENTSPKANKEI 10.0 10.0 - - 4345_17:37880220-37880220 T>C_GENVKIPVAIKVSRENTSPKANKEI 0.0 9:117936-117936 C>T 1.0 4284 COLORECTAL - - - - FOXD4 uc003zfz.4,p.G62R|ENST00000382500,p.G62R|NM_207305,p.G62R protein_coding uc003zfz.4 nonsynonymous SNV exon1 c.G184A p.G62R SLQPGLQVARWGGVALPREHIEGGG SLQPGLQVARWGRVALPREHIEGGG 6.0 9.0 - - 4284_9:117936-117936 C>T_SLQPGLQVARWGRVALPREHIEGGG 0.0 11:133796904-133796904 G>C 0.0 4316 COLORECTAL - - - - IGSF9B uc001qgy.1,p.L414V|uc031qfh.1,p.L572V|ENST00000533871,p.L572V|NM_001277285,p.L572V|ENST00000321016,p.L572V protein_coding uc031qfh.1 nonsynonymous SNV exon13 c.C1714G p.L572V VPPGPSWLLVDTLEPETAYQFSVLA VPPGPSWLLVDTVEPETAYQFSVLA 3.0 5.0 - - 4316_11:133796904-133796904 G>C_VPPGPSWLLVDTVEPETAYQFSVLA 0.0 7:117175402-117175402 T>G 0.0 4259 COLORECTAL - - - - CFTR uc003vjd.3,p.L227R|NM_000492,p.L227R|ENST00000426809,p.L197R|ENST00000003084,p.L227R|ENST00000454343,p.L227R protein_coding, processed_transcript, nonsense_mediated_decay uc003vjd.3 nonsynonymous SNV exon6 c.T680G p.L227R IWELLQASAFCGLGFLIVLALFQAG IWELLQASAFCGRGFLIVLALFQAG 9.0 6.0 - - 4259_7:117175402-117175402 T>G_IWELLQASAFCGRGFLIVLALFQAG 0.0 3:113376897-113376897 T>C 1.0 4345 COLORECTAL - - - - KIAA2018 ENST00000316407,p.E1211G|uc003eam.3,p.E1211G|uc003eal.3,p.E1155G|ENST00000478658,p.E1211G|NM_001009899,p.E1211G retained_intron, protein_coding uc003eam.3 nonsynonymous SNV exon7 c.A3632G p.E1211G QGSIEATMERPLEKPSCSLGIKTSN QGSIEATMERPLGKPSCSLGIKTSN 6.0 3.0 - - 4345_3:113376897-113376897 T>C_QGSIEATMERPLGKPSCSLGIKTSN 0.0 19:41055311-41055311 G>C 0.0 4160 COLORECTAL - - - - SPTBN4 ENST00000392023,p.D202H|ENST00000352632,p.D1526H|ENST00000598249,p.D1526H|NM_020971,p.D1526H|uc002onx.3,p.D1526H|ENST00000595535,p.D1526H|ENST00000338932,p.D1526H|uc002ooa.3,p.D202H|uc002ony.3,p.D1526H|ENST00000392025,p.D269H|uc010egy.1,p.D202H|uc010egx.3,p.D269H|NM_025213,p.D202H|uc002onz.3,p.D1526H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010egy.1 nonsynonymous SNV exon4 c.G604C p.D202H SKELHQVAHDLDDELAWVQERLPLA SKELHQVAHDLDHELAWVQERLPLA 3.0 9.0 - - 4160_19:41055311-41055311 G>C_SKELHQVAHDLDHELAWVQERLPLA 0.0 19:23836934-23836934 ->TT 1.0 4213 COLORECTAL - - - - ZNF675 ENST00000359788,p.Q267fs|uc002nri.3,p.Q267fs|NM_138330,p.Q267fs retained_intron, protein_coding, nonsense_mediated_decay uc002nri.3 frameshift insertion exon4 c.800_801insAA p.Q267fs PYKCEECGKAFNQSSHLTTHKIIHT PYKCEECGKAFNQSPHTLLHIR 8.0 7.0 - - 4213_19:23836934-23836934 ->TT_PYKCEECGKAFNQSPHTLLHIR 0.0 8:110447572-110447572 G>A 0.0 4281 COLORECTAL - - - - PKHD1L1 uc003yne.3,p.G1165E|NM_177531,p.G1165E|ENST00000378402,p.G1165E retained_intron, protein_coding uc003yne.3 nonsynonymous SNV exon29 c.G3494A p.G1165E YQSQISHIWPDSGSIAGGTLLTLSG YQSQISHIWPDSESIAGGTLLTLSG 2.0 5.0 - - 4281_8:110447572-110447572 G>A_YQSQISHIWPDSESIAGGTLLTLSG 0.0 6:66115188-66115188 C>A 0.0 4252 COLORECTAL - - - - EYS uc003per.1,p.S312I|NM_001142801,p.S312I|ENST00000370618,p.S312I|ENST00000393380,p.S312I|NM_198283,p.S312I|NM_001142800,p.S312I|ENST00000503581,p.S312I|ENST00000342421,p.S312I|uc003peq.3,p.S312I|uc021zbn.1,p.S312I|NM_001292009,p.S312I|ENST00000370616,p.S312I|uc011dxu.1,p.S312I|ENST00000370621,p.S312I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021zbn.1 nonsynonymous SNV exon6 c.G935T p.S312I SLLFWKRGICPNSSSAYTYECPKGS SLLFWKRGICPNISSAYTYECPKGS 3.0 9.0 - - 4252_6:66115188-66115188 C>A_SLLFWKRGICPNISSAYTYECPKGS 0.0 18:24035751-24035751 G>A 1.0 4037 NSCLC - - - - KCTD1 uc031rht.1,p.R244C|uc010xbj.3,p.R852C|ENST00000408011,p.R244C|NM_001142730,p.R852C|uc002kvw.4,p.R244C|uc010xbk.3,p.R244C|NM_001258222,p.R252C|uc031rhu.1,p.R252C|ENST00000317932,p.R244C|NM_001258221,p.R244C|ENST00000579973,p.R244C|ENST00000417602,p.R852C|ENST00000580059,p.R244C|NM_198991,p.R244C|NM_001136205,p.R244C retained_intron, protein_coding, processed_transcript uc031rhu.1 nonsynonymous SNV exon5 c.C754T p.R252C EYVLRRELRRTPRVPSVIRIKQEPL EYVLRRELRRTPCVPSVIRIKQEPL 9.0 9.0 - - 4037_18:24035751-24035751 G>A_EYVLRRELRRTPCVPSVIRIKQEPL 0.0 12:56092686-56092686 G>A 1.0 4155 MELANOMA - - - - ITGA7 ENST00000556273,p.S27L retained_intron, protein_coding, nonsense_mediated_decay ENST00000556273 nonsynonymous SNV exon3 c.C80T p.S27L EGFQCWRGFSIDSGKGLVRAEELSF EGFQCWRGFSIDLGKGLVRAEELSF 10.0 9.0 - - 4155_12:56092686-56092686 G>A_EGFQCWRGFSIDLGKGLVRAEELSF 0.0 6:123687324-123687324 G>C 0.0 3903 MELANOMA - - - - TRDN uc003pzj.2,p.T426S|uc003pzk.2,p.T427S|NM_001251987,p.T427S|ENST00000398178,p.T426S|ENST00000334268,p.T426S|NM_006073,p.T426S protein_coding uc003pzk.2 nonsynonymous SNV exon20 c.C1280G p.T427S HSVPSDKQVKAKTERAKEEIGAVSI HSVPSDKQVKAKSERAKEEIGAVSI 1.0 7.0 - - 3903_6:123687324-123687324 G>C_HSVPSDKQVKAKSERAKEEIGAVSI 0.0 14:93650085-93650085 A>C 1.0 3713 MELANOMA - - - - MOAP1 uc021saw.1,p.F168C|NM_022151,p.F168C|uc001ybj.3,p.F168C|ENST00000298894,p.F168C|ENST00000556883,p.F168C protein_coding uc021saw.1 nonsynonymous SNV exon1 c.T503G p.F168C ALQCLKYKKLRVFSGRESPEPGEEE ALQCLKYKKLRVCSGRESPEPGEEE 8.0 2.0 - - 3713_14:93650085-93650085 A>C_ALQCLKYKKLRVCSGRESPEPGEEE 0.0 19:30502122-30502122 G>A 1.0 3903 MELANOMA - - - - URI1 ENST00000360605,p.R368K|uc002nss.3,p.R346K|NM_001252641,p.R368K|NM_003796,p.R386K|ENST00000392271,p.R310K|ENST00000312051,p.R346K|uc002nsq.3,p.R368K|uc002nsr.3,p.R386K|ENST00000542441,p.R386K|uc002nst.3,p.R310K protein_coding, processed_transcript, nonsense_mediated_decay uc002nst.3 nonsynonymous SNV exon7 c.G929A p.R310K GSGHSAQELPTIRTPADIYRAFVDV GSGHSAQELPTIKTPADIYRAFVDV 9.0 9.0 - - 3903_19:30502122-30502122 G>A_GSGHSAQELPTIKTPADIYRAFVDV 0.0 14:24000804-24000804 C>T 0.0 4186 BREAST - - - - ZFHX2 NM_033400,p.D896N|uc010tno.2,p.D896N|ENST00000419474,p.D896N|uc001wke.3,p.D39N protein_coding uc010tno.2 nonsynonymous SNV exon4 c.G2686A p.D896N AVLQHLRTPAHRDAQAQRRLQLLQN AVLQHLRTPAHRNAQAQRRLQLLQN 4.0 5.0 - - 4186_14:24000804-24000804 C>T_AVLQHLRTPAHRNAQAQRRLQLLQN 0.0 17:11532759-11532759 T>C 0.0 4149 OVARIAN - - - - DNAH9 NM_001372,p.F459S|ENST00000454412,p.F459S|ENST00000262442,p.F459S|uc002gne.3,p.F459S retained_intron, protein_coding, processed_transcript uc002gne.3 nonsynonymous SNV exon7 c.T1376C p.F459S HVVEGLLKTALDFHKLGKVEFSGVR HVVEGLLKTALDSHKLGKVEFSGVR 9.0 6.0 - - 4149_17:11532759-11532759 T>C_HVVEGLLKTALDSHKLGKVEFSGVR 0.0 19:39914273-39914273 C>T 1.0 3678 MELANOMA - - - - PLEKHG2 NM_022835,p.P860L|ENST00000458508,p.P801L|uc010xuy.2,p.P801L|uc010xva.2,p.P638L|ENST00000409794,p.P860L|ENST00000600210,p.P69L|uc010xuz.2,p.P860L|ENST00000425673,p.P831L retained_intron, protein_coding uc010xva.2 nonsynonymous SNV exon14 c.C1913T p.P638L RVLAQPQPSPCLPQEQAEPGLLPAF RVLAQPQPSPCLLQEQAEPGLLPAF 7.0 7.0 - - 3678_19:39914273-39914273 C>T_RVLAQPQPSPCLLQEQAEPGLLPAF 0.0 10:55587279-55587279 C>T 0.0 2359 MELANOMA - - ID=COSM465745,COSM465744,COSM1135025,COSM465743;OCCURENCE=1(kidney),1(haematopoietic_and_lymphoid_tissue) - PCDH15 uc010qhw.1,p.R1374Q|uc021pqz.1,p.R1389Q|NM_001142767,p.R1374Q|uc010qib.1,p.R1389Q|NM_001142766,p.R1411Q|ENST00000395430,p.R1411Q|NM_001142773,p.R1389Q|ENST00000395432,p.R1374Q|ENST00000414778,p.R1416Q|uc010qhv.1,p.R1411Q|ENST00000395433,p.R1389Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021pqz.1 nonsynonymous SNV exon29 c.G4166A p.R1389Q YRQRQAECTKTARIQAALPAAKPAV YRQRQAECTKTAQIQAALPAAKPAV 1.0 9.0 - - 2359_10:55587279-55587279 C>T_YRQRQAECTKTAQIQAALPAAKPAV 0.0 2:186660972-186660972 A>C 1.0 4287 COLORECTAL - - - - FSIP2 uc002upl.3,p.K3126Q|ENST00000343098,p.K3126Q|NM_173651,p.K3126Q|ENST00000424728,p.K3037Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002upl.3 nonsynonymous SNV exon16 c.A9376C p.K3126Q ENLSSIQQKLLNKKMLPKLQPLKMF ENLSSIQQKLLNQKMLPKLQPLKMF 3.0 8.0 - - 4287_2:186660972-186660972 A>C_ENLSSIQQKLLNQKMLPKLQPLKMF 0.0 12:81768472-81768472 C>A 0.0 4258 ENDOMETRIAL - - - - PPFIA2 uc031qik.1,p.A329S|NM_001220478,p.A304S|uc031qir.1,p.A403S|uc031qim.1,p.A403S|uc031qiv.1,p.A304S|uc031qin.1,p.A385S|uc031qix.1,p.A403S|uc031qiy.1,p.A403S|NM_001282536,p.A250S|uc031qiq.1,p.A385S|ENST00000333447,p.A385S|NM_003625,p.A403S|NM_001220473,p.A403S|ENST00000549396,p.A403S|uc031qiw.1,p.A403S|NM_001220474,p.A385S|ENST00000548586,p.A403S|ENST00000443686,p.A304S|uc031qip.1,p.A403S|uc031qis.1,p.A403S|uc031qil.1,p.A304S|ENST00000549325,p.A385S|uc031qiu.1,p.A329S|ENST00000550584,p.A403S|NM_001220477,p.A329S|NM_001220475,p.A403S|uc031qio.1,p.A403S|ENST00000550359,p.A250S|ENST00000552948,p.A403S|NM_001220476,p.A403S|ENST00000407050,p.A329S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031qiy.1 nonsynonymous SNV exon9 c.G1207T p.A403S LAEQKLQQTMRKAETLPEVEAELAQ LAEQKLQQTMRKSETLPEVEAELAQ 4.0 9.0 - - 4258_12:81768472-81768472 C>A_LAEQKLQQTMRKSETLPEVEAELAQ 0.0 2:70910851-70910851 C>T 0.0 2591 MELANOMA - - - - ADD2 uc021vjc.1,p.E333K|ENST00000355733,p.E333K|uc002sgz.3,p.E333K|NM_001185055,p.E349K|ENST00000407644,p.E333K|uc010fdu.2,p.E349K|NM_017488,p.E333K|NM_001185054,p.E333K|ENST00000430656,p.E349K|NM_001617,p.E333K|uc010fdt.2,p.E333K|ENST00000413157,p.E333K|ENST00000264436,p.E333K|ENST00000403045,p.E333K|uc002sgy.3,p.E333K|uc002shc.2,p.E333K|NM_017482,p.E333K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021vjc.1 nonsynonymous SNV exon10 c.G997A p.E333K SSAGGVENLILLEQEKHRPHEVGSV SSAGGVENLILLKQEKHRPHEVGSV 2.0 5.0 - - 2591_2:70910851-70910851 C>T_SSAGGVENLILLKQEKHRPHEVGSV 0.0 19:48254780-48254780 C>T 1.0 3713 MELANOMA - - - - GLTSCR2 NM_015710,p.P201L|ENST00000597985,p.P82L|uc002phm.2,p.P201L|ENST00000246802,p.P201L retained_intron, protein_coding, processed_transcript uc002phm.2 nonsynonymous SNV exon5 c.C602T p.P201L ERPFYDLWASDNPLDRPLVGQDEFF ERPFYDLWASDNLLDRPLVGQDEFF 10.0 10.0 - - 3713_19:48254780-48254780 C>T_ERPFYDLWASDNLLDRPLVGQDEFF 0.0 9:16435575-16435575 G>A 1.0 3716 MELANOMA - - - - BNC2 uc003zmj.3,p.P638S|uc003zmi.3,p.P638S|uc003zmm.3,p.P831S|ENST00000418777,p.P830S|ENST00000411752,p.P266S|uc003zmn.1,p.P638S protein_coding, processed_transcript, nonsense_mediated_decay uc003zmn.1 nonsynonymous SNV exon1 c.C1912T p.P638S HVCTVAGCNAAFPSRRSRDRNRNLR HVCTVAGCNAAFSSRRSRDRNRNLR 9.0 10.0 - - 3716_9:16435575-16435575 G>A_HVCTVAGCNAAFSSRRSRDRNRNLR 0.0 16:31447896-31447896 G>A 0.0 4158 COLORECTAL - - - - ZNF843 ENST00000564218,p.A92V|uc021tgw.1,p.A92V|NM_001136509,p.A92V|uc010vfm.1,p.A92V|ENST00000315678,p.A92V protein_coding uc021tgw.1 nonsynonymous SNV exon1 c.C275T p.A92V APASPLGRSHSSAGVRQGFSGQLCC APASPLGRSHSSVGVRQGFSGQLCC 3.0 9.0 - - 4158_16:31447896-31447896 G>A_APASPLGRSHSSVGVRQGFSGQLCC 0.0 2:107459646-107459646 G>A 0.0 4266 COLORECTAL - - ID=COSM3701911,COSM3701912;OCCURENCE=1(liver) - ST6GAL2 NM_001142351,p.T263M|ENST00000361686,p.T263M|NM_032528,p.T263M|uc002tdr.3,p.T263M|ENST00000409382,p.T263M|ENST00000409087,p.T263M|NM_001142352,p.T263M|uc002tds.3,p.T263M|uc002tdq.3,p.T263M protein_coding uc002tds.3 nonsynonymous SNV exon2 c.C788T p.T263M LLCQLRSRARVRTLDGTEAPFSALG LLCQLRSRARVRMLDGTEAPFSALG 2.0 5.0 - - 4266_2:107459646-107459646 G>A_LLCQLRSRARVRMLDGTEAPFSALG 0.0 6:28964178-28964178 C>G 0.0 3775 CERVICAL - - - - ZNF311 uc003nlu.2,p.E201Q|uc011dlk.1,p.E109Q|uc003nlv.2,p.E109Q|NM_001010877,p.E201Q|ENST00000377179,p.E201Q protein_coding, processed_transcript uc011dlk.1 nonsynonymous SNV exon6 c.G325C p.E109Q VKLENQWETSIREKLREEKEGSEEV VKLENQWETSIRQKLREEKEGSEEV 4.0 6.0 - - 3775_6:28964178-28964178 C>G_VKLENQWETSIRQKLREEKEGSEEV 0.0 12:31944968-31944968 T>C 0.0 4238 COLORECTAL - - - - H3F3C NM_001013699,p.T45A|ENST00000340398,p.T45A|uc001rkr.3,p.T45A protein_coding uc001rkr.3 nonsynonymous SNV exon1 c.A133G p.T45A TCGVKPHRYRPGTVALREIRRYQKS TCGVKPHRYRPGAVALREIRRYQKS 4.0 5.0 - - 4238_12:31944968-31944968 T>C_TCGVKPHRYRPGAVALREIRRYQKS 0.0 10:11527038-11527038 T>A 1.0 4110 BILE DUCT - - - - USP6NL uc001iks.1,p.D303V|uc001ikt.3,p.D286V|NM_001080491,p.D303V|ENST00000277575,p.D303V|ENST00000379237,p.D286V|NM_014688,p.D286V protein_coding uc001ikt.3 nonsynonymous SNV exon13 c.A857T p.D286V DRTPFTLNLRIWDIYIFEGERVLTA DRTPFTLNLRIWVIYIFEGERVLTA 6.0 10.0 - - 4110_10:11527038-11527038 T>A_DRTPFTLNLRIWVIYIFEGERVLTA 0.0 1:1571704-1571704 A>C 1.0 4320 COLORECTAL - - - - CDK11B uc001agw.1,p.L634R|uc001agx.1,p.L668R|uc001agy.1,p.L677R protein_coding uc001agy.1 nonsynonymous SNV exon18 c.T2030G p.L677R PYNNLRKRFGALLSDQGFDLMNKFL PYNNLRKRFGALRSDQGFDLMNKFL 10.0 4.0 - - 4320_1:1571704-1571704 A>C_PYNNLRKRFGALRSDQGFDLMNKFL 0.0 11:3733954-3733954 G>A 1.0 3713 MELANOMA - - - 1 NUP98 ENST00000355260,p.S861F|NM_139132,p.S861F|ENST00000359171,p.S861F|uc001lyj.2,p.S861F|ENST00000397007,p.S878F|uc001lyk.2,p.S878F|uc001lyh.3,p.S861F|NM_016320,p.S861F|ENST00000397004,p.S861F|NM_005387,p.S878F|ENST00000324932,p.S861F|NM_139131,p.S861F|uc001lyi.3,p.S861F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001lyk.2 nonsynonymous SNV exon20 c.C2633T p.S878F YRPETGSWVFKVSHFSKYGLQDSDE YRPETGSWVFKVFHFSKYGLQDSDE 9.0 8.0 - - 3713_11:3733954-3733954 G>A_YRPETGSWVFKVFHFSKYGLQDSDE 0.0 7:151704956-151704956 A>G 0.0 4301 MELANOMA - - - - GALNTL5 NM_145292,p.Y318C|uc003wkq.3,p.Y69C|uc010lqf.3,p.Y207C|uc003wkp.3,p.Y318C|ENST00000431418,p.Y318C|ENST00000392800,p.Y318C protein_coding, processed_transcript, nonsense_mediated_decay uc010lqf.3 nonsynonymous SNV exon8 c.A620G p.Y207C AMSGGIFAIRRHYFNEIGQYDKDMD AMSGGIFAIRRHCFNEIGQYDKDMD 1.0 10.0 - - 4301_7:151704956-151704956 A>G_AMSGGIFAIRRHCFNEIGQYDKDMD 0.0 5:140186956-140186956 C>T 0.0 4278 COLORECTAL - - - - PCDHA4 uc011daa.2,p.R62C|NM_018907,p.R62C|ENST00000356878,p.R62C|uc003lhi.2,p.R62C|ENST00000512229,p.R62C|uc003lhh.1,p.R62C|ENST00000530339,p.R62C|NM_031500,p.R62C protein_coding uc011daa.2 nonsynonymous SNV exon1 c.C184T p.R62C QDLGLELAELVPRLFRVASKGRGGL QDLGLELAELVPCLFRVASKGRGGL 6.0 8.0 - - 4278_5:140186956-140186956 C>T_QDLGLELAELVPCLFRVASKGRGGL 0.0 20:54824201-54824201 T>C 0.0 4281 COLORECTAL - - - - MC3R NM_019888,p.V101A|ENST00000243911,p.V101A|uc002xxb.2,p.V101A protein_coding uc002xxb.2 nonsynonymous SNV exon1 c.T302C p.V101A VSNALETIMIAIVHSDYLTFEDQFI VSNALETIMIAIAHSDYLTFEDQFI 2.0 4.0 - - 4281_20:54824201-54824201 T>C_VSNALETIMIAIAHSDYLTFEDQFI 0.0 4:107249399-107249399 A>T 1.0 4078 GASTRIC - - - - AIMP1 NM_001142416,p.K154N|uc003hyg.3,p.K130N|NM_001142415,p.K130N|ENST00000358008,p.K130N|uc003hyh.3,p.K154N|uc011cfg.2,p.K130N|ENST00000394701,p.K154N|ENST00000442366,p.K130N|NM_004757,p.K130N|ENST00000510207,p.K130N protein_coding uc011cfg.2 nonsynonymous SNV exon4 c.A390T p.K130N GDEKKAKEKIEKKGEKKEKKQQSIA GDEKKAKEKIEKNGEKKEKKQQSIA 7.0 8.0 - - 4078_4:107249399-107249399 A>T_GDEKKAKEKIEKNGEKKEKKQQSIA 0.0 7:5567970-5567996 GATGACCTGGCCGTCAGGCAGCTCGTA>- 0.0 4326 BREAST - - - - ACTB uc003sor.4,p.118_126del|uc003sot.4,p.240_248del|uc003soq.4,p.118_126del|ENST00000331789,p.240_248del|NM_001101,p.240_248del retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003sot.4 nonframeshift deletion exon4 c.718_744del p.240_248del ATAASSSSLEKSYELPDGQVITIGNE ATAASSSSLEKSTIGNERFRCPEAL 10.0 6.0 - - 4326_7:5567970-5567996 GATGACCTGGCCGTCAGGCAGCTCGTA>-_ATAASSSSLEKSTIGNERFRCPEAL 0.0 19:10398698-10398698 C>T 0.0 2556 MELANOMA - - - - ICAM4 uc002mns.2,p.S245F|ENST00000380770,p.S245F|NM_001544,p.S245F protein_coding uc002mns.2 nonsynonymous SNV exon3 c.C734T p.S245F AWSPAPTALASGSIAALVGILLTVG AWSPAPTALASGFIAALVGILLTVG 3.0 4.0 - - 2556_19:10398698-10398698 C>T_AWSPAPTALASGFIAALVGILLTVG 0.0 4:151199078-151199078 C>T 1.0 3713 MELANOMA - - - - LRBA uc010ipj.3,p.D2810N|uc003ilt.4,p.D1458N|ENST00000535741,p.D2799N|NM_001199282,p.D2798N|uc003ils.4,p.D705N|ENST00000357115,p.D2810N|uc003ilu.4,p.D2798N|uc003ilr.4,p.D230N|ENST00000510413,p.D2798N|uc010ipi.3,p.D332N|NM_006726,p.D2810N retained_intron, protein_coding, processed_transcript uc010ipj.3 nonsynonymous SNV exon57 c.G8428A p.D2810N GDRGVVVVRQVSDLKQLFAYPGCDA GDRGVVVVRQVSNLKQLFAYPGCDA 6.0 5.0 - - 3713_4:151199078-151199078 C>T_GDRGVVVVRQVSNLKQLFAYPGCDA 0.0 6:30675441-30675441 C>T 1.0 4155 MELANOMA - - - - MDC1 ENST00000376406,p.G972E|uc003nrg.4,p.G972E|NM_014641,p.G972E retained_intron, protein_coding, processed_transcript uc003nrg.4 nonsynonymous SNV exon8 c.G2915A p.G972E GQASSPTPEPGVGAGDLPGPTSAPV GQASSPTPEPGVEAGDLPGPTSAPV 8.0 9.0 - - 4155_6:30675441-30675441 C>T_GQASSPTPEPGVEAGDLPGPTSAPV 0.0 3:52584833-52584833 C>T 1.0 4000 MELANOMA - - - 1 PBRM1 ENST00000356770,p.G1450D|ENST00000296302,p.G1537D|ENST00000394830,p.G1430D|uc003der.2,p.G1450D|NM_018313,p.G1430D|uc003dey.2,p.G1430D|ENST00000409057,p.G1482D|uc003dew.2,p.G1482D|uc003des.2,p.G1537D|ENST00000410007,p.G1457D|uc010hmk.1,p.G1457D retained_intron, protein_coding, nonsense_mediated_decay uc010hmk.1 nonsynonymous SNV exon27 c.G4370A p.G1457D PGVPGLPGIPPPGVMNQGVAPMVGT PGVPGLPGIPPPDVMNQGVAPMVGT 9.0 4.0 - - 4000_3:52584833-52584833 C>T_PGVPGLPGIPPPDVMNQGVAPMVGT 0.0 17:20149384-20149384 G>T 0.0 4234 NSCLC - - - 2 SPECC1 NM_001033553,p.G833C|NM_001033555,p.G752C|uc002gwq.3,p.G833C|ENST00000395530,p.G752C|uc002gwv.3,p.G752C|ENST00000395527,p.G833C|uc002gws.3,p.G833C|uc010vzf.2,p.G173C|ENST00000536879,p.G173C|NM_001243439,p.G833C|ENST00000261503,p.G833C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vzf.2 nonsynonymous SNV exon5 c.G517T p.G173C KSLIKSFDLGRPGGAGQNISVHKTP KSLIKSFDLGRPCGAGQNISVHKTP 8.0 10.0 - - 4234_17:20149384-20149384 G>T_KSLIKSFDLGRPCGAGQNISVHKTP 0.0 11:100226851-100226851 G>A 0.0 3903 MELANOMA - - - - CNTN5 ENST00000524871,p.G1068E|NM_175566,p.G994E|uc021qpc.1,p.G994E|ENST00000528682,p.G1068E|uc001pga.3,p.G1068E|ENST00000279463,p.G1068E|NM_001243270,p.G1068E|uc010ruk.2,p.G339E|NM_014361,p.G1068E|ENST00000418526,p.G994E|uc021qpb.1,p.G1068E retained_intron, protein_coding, processed_transcript uc021qpc.1 nonsynonymous SNV exon22 c.G2981A p.G994E ASSQIRVPSYSGGKITSAQSTLHSL ASSQIRVPSYSGEKITSAQSTLHSL 1.0 8.0 - - 3903_11:100226851-100226851 G>A_ASSQIRVPSYSGEKITSAQSTLHSL 0.0 1:38185600-38185600 C>A 1.0 4213 COLORECTAL - - - - EPHA10 uc009vvi.3,p.W848L|ENST00000427468,p.W848L|ENST00000534097,p.W348L|ENST00000330210,p.W343L|ENST00000373048,p.W848L|NM_001099439,p.W848L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009vvi.3 nonsynonymous SNV exon14 c.G2543T p.W848L MWEVMAFGERPYWDMSGQDVIKAVE MWEVMAFGERPYLDMSGQDVIKAVE 7.0 6.0 - - 4213_1:38185600-38185600 C>A_MWEVMAFGERPYLDMSGQDVIKAVE 0.0 17:60039134-60039134 G>A 1.0 3998 MELANOMA - - - - MED13 NM_005121,p.P1691S|uc002izo.3,p.P1691S|ENST00000397786,p.P1691S retained_intron, protein_coding, processed_transcript uc002izo.3 nonsynonymous SNV exon22 c.C5071T p.P1691S PHIKSTVSVQIIPCQYLLQPVKHED PHIKSTVSVQIISCQYLLQPVKHED 10.0 6.0 CD8 - 3998_17:60039134-60039134 G>A_PHIKSTVSVQIISCQYLLQPVKHED 1.0 17:7415140-7415140 T>C 1.0 4196 COLORECTAL - - - - POLR2A NM_000937,p.I1371T|uc002ghf.4,p.I1371T|ENST00000322644,p.I1371T retained_intron, protein_coding uc002ghf.4 nonsynonymous SNV exon25 c.T4112C p.I1371T SNDIVEIFTVLGIEAVRKALERELY SNDIVEIFTVLGTEAVRKALERELY 10.0 9.0 - - 4196_17:7415140-7415140 T>C_SNDIVEIFTVLGTEAVRKALERELY 0.0 4:650058-650058 G>A 0.0 4266 COLORECTAL - - - - PDE6B NM_001145292,p.A83T|ENST00000255622,p.A362T|NM_001145291,p.A362T|uc003gao.4,p.A362T|ENST00000496514,p.A362T|NM_000283,p.A362T|uc003gap.3,p.A362T|uc011buy.2,p.A83T|ENST00000429163,p.A83T retained_intron, protein_coding uc011buy.2 nonsynonymous SNV exon6 c.G247A p.A83T ESGFICNIMNASADEMFKFQEGALD ESGFICNIMNASTDEMFKFQEGALD 5.0 6.0 - - 4266_4:650058-650058 G>A_ESGFICNIMNASTDEMFKFQEGALD 0.0 19:56435974-56435974 C>T 0.0 3903 MELANOMA 0.0032 - - - NLRP13 ENST00000588751,p.E147K|ENST00000342929,p.E147K|uc010ygg.2,p.E147K|NM_176810,p.E147K protein_coding uc010ygg.2 nonsynonymous SNV exon3 c.G439A p.E147K QGCQDPNQEELDELEEETGNVQAQG QGCQDPNQEELDKLEEETGNVQAQG 1.0 8.0 - - 3903_19:56435974-56435974 C>T_QGCQDPNQEELDKLEEETGNVQAQG 0.0 22:32797815-32797815 A>T 1.0 2369 MELANOMA - - - - RTCB ENST00000216038,p.V139E|uc003amm.2,p.V139E|NM_014306,p.V139E|ENST00000451746,p.V139E retained_intron, protein_coding, processed_transcript uc003amm.2 nonsynonymous SNV exon5 c.T416A p.V139E LRTNLDESDVQPVKEQLAQAMFDHI LRTNLDESDVQPEKEQLAQAMFDHI 10.0 5.0 - - 2369_22:32797815-32797815 A>T_LRTNLDESDVQPEKEQLAQAMFDHI 0.0 2:152470801-152470801 G>C 0.0 4245 COLORECTAL - - - - NEB uc021vrc.1,p.L3864V|uc002txu.3,p.L3864V|NM_001271208,p.L3864V|NM_001164507,p.L3864V|uc021vrb.1,p.L3621V|ENST00000604864,p.L3864V|uc031rpp.1,p.L3864V|uc021vrd.1,p.L3621V|ENST00000427231,p.L3864V|ENST00000397345,p.L3864V|ENST00000172853,p.L3621V|ENST00000603639,p.L3864V|ENST00000409198,p.L3621V|NM_001164508,p.L3864V retained_intron, protein_coding, processed_transcript uc031rpp.1 nonsynonymous SNV exon77 c.C11590G p.L3864V QNDVIQARKAYDLQSDAIYKSDLEW QNDVIQARKAYDVQSDAIYKSDLEW 5.0 8.0 - - 4245_2:152470801-152470801 G>C_QNDVIQARKAYDVQSDAIYKSDLEW 0.0 3:151100471-151100471 T>C 0.0 4245 COLORECTAL - - - - MED12L NM_053002,p.Y1505H|uc011bnz.2,p.Y1365H|uc003eyy.1,p.Y668H|ENST00000474524,p.Y1505H|uc003eyp.3,p.Y1505H|ENST00000273432,p.Y1365H protein_coding, processed_transcript uc011bnz.2 nonsynonymous SNV exon29 c.T4093C p.Y1365H VNQILSNWREERYQDDIKARQMMHE VNQILSNWREERHQDDIKARQMMHE 2.0 7.0 - - 4245_3:151100471-151100471 T>C_VNQILSNWREERHQDDIKARQMMHE 0.0 19:18391408-18391408 A>T 1.0 4245 COLORECTAL - - - - JUND ENST00000600972,p.L34Q|NM_005354,p.L296Q|NM_001286968,p.L253Q|uc002nip.2,p.L296Q|ENST00000252818,p.L296Q protein_coding, processed_transcript uc002nip.2 nonsynonymous SNV exon1 c.T887A p.L296Q KCRKRKLERISRLEEKVKTLKSQNT KCRKRKLERISRQEEKVKTLKSQNT 10.0 6.0 - - 4245_19:18391408-18391408 A>T_KCRKRKLERISRQEEKVKTLKSQNT 0.0 6:163235236-163235236 T>G 0.0 4278 COLORECTAL - - - - PACRG NM_152410,p.F72V|uc003qub.3,p.F72V|uc003qua.3,p.F72V|ENST00000366889,p.F72V|ENST00000337019,p.F72V|uc003quc.3,p.F72V|ENST00000366888,p.F72V|NM_001080379,p.F72V|NM_001080378,p.F72V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003quc.3 nonsynonymous SNV exon2 c.T214G p.F72V GAFKERPTKPTAFRKFYERGDFPIA GAFKERPTKPTAVRKFYERGDFPIA 4.0 2.0 - - 4278_6:163235236-163235236 T>G_GAFKERPTKPTAVRKFYERGDFPIA 0.0 16:2114286-2114286 A>G 1.0 4037 NSCLC - - - 1 TSC2 ENST00000568454,p.N497S|NM_000548,p.N486S|ENST00000353929,p.N486S|ENST00000350773,p.N486S|uc010uvw.2,p.N437S|uc002coo.3,p.N486S|uc002con.3,p.N486S|NM_001077183,p.N486S|NM_001114382,p.N486S|uc002cop.3,p.N286S|ENST00000401874,p.N486S|ENST00000382538,p.N437S|ENST00000219476,p.N486S|uc010uvv.2,p.N449S|ENST00000439673,p.N449S|uc010bsd.3,p.N486S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010uvw.2 nonsynonymous SNV exon14 c.A1310G p.N437S LINRQFYEEELINSVVISQLSHIPE LINRQFYEEELISSVVISQLSHIPE 8.0 10.0 - - 4037_16:2114286-2114286 A>G_LINRQFYEEELISSVVISQLSHIPE 0.0 1:221875984-221875984 G>A 1.0 3466 MELANOMA - - - - DUSP10 NM_007207,p.H407Y|ENST00000366899,p.H407Y|uc001hmy.2,p.H407Y|ENST00000323825,p.H65Y|uc001hmz.2,p.H65Y|ENST00000544095,p.H65Y|uc001hmx.2,p.H65Y protein_coding, processed_transcript uc001hmz.2 nonsynonymous SNV exon3 c.C193T p.H65Y EEAHQCGKGLLIHCQAGVSRSATIV EEAHQCGKGLLIYCQAGVSRSATIV 8.0 7.0 - - 3466_1:221875984-221875984 G>A_EEAHQCGKGLLIYCQAGVSRSATIV 0.0 7:150725677-150725677 C>G 1.0 4134 NSCLC - - - - ABCB8 ENST00000488551,p.F25L|ENST00000470645,p.F25L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000488551 nonsynonymous SNV exon1 c.C75G p.F25L GPFPGRLLPPLRFQTFSAVSCGEGV GPFPGRLLPPLRLQTFSAVSCGEGV 7.0 6.0 - - 4134_7:150725677-150725677 C>G_GPFPGRLLPPLRLQTFSAVSCGEGV 0.0 2:100917203-100917203 T>A 1.0 3903 MELANOMA - - - - LONRF2 uc002tal.4,p.N323I|ENST00000393437,p.N323I|ENST00000409647,p.N80I|NM_198461,p.N323I protein_coding uc002tal.4 nonsynonymous SNV exon4 c.A968T p.N323I EVLFSATANVHENLTSSIQSRLKAQ EVLFSATANVHEILTSSIQSRLKAQ 4.0 4.0 - - 3903_2:100917203-100917203 T>A_EVLFSATANVHEILTSSIQSRLKAQ 0.0 16:57608879-57608879 A>G 0.0 4077 BILE DUCT - - - - GPR114 uc002ely.3,p.H454R|ENST00000349457,p.H454R|NM_153837,p.H454R|uc002elx.4,p.H454R|ENST00000340339,p.H454R retained_intron, protein_coding, processed_transcript uc002ely.3 nonsynonymous SNV exon11 c.A1361G p.H454R RERADAPSVRACHDTVTVLGLTVLL RERADAPSVRACRDTVTVLGLTVLL 4.0 4.0 - - 4077_16:57608879-57608879 A>G_RERADAPSVRACRDTVTVLGLTVLL 0.0 6:13597242-13597242 T>G 1.0 4320 COLORECTAL - - - - SIRT5 NM_012241,p.L204R|NM_001242827,p.L96R|ENST00000397350,p.L96R|ENST00000606117,p.L204R|NM_031244,p.L204R|uc003nay.3,p.L204R|uc003nax.3,p.L96R|ENST00000379262,p.L204R|uc003naw.3,p.L204R protein_coding uc003nay.3 nonsynonymous SNV exon7 c.T611G p.L204R PGTQDASIPVEKLPRCEEAGCGGLL PGTQDASIPVEKRPRCEEAGCGGLL 7.0 7.0 - - 4320_6:13597242-13597242 T>G_PGTQDASIPVEKRPRCEEAGCGGLL 0.0 20:48253920-48253920 G>A 1.0 3784 MELANOMA - - - - B4GALT5 uc002xuu.4,p.S326F|NM_004776,p.S326F|ENST00000371711,p.S326F protein_coding uc002xuu.4 nonsynonymous SNV exon8 c.C977T p.S326F VSRPEGDTGKYKSIPHHHRGEVQFL VSRPEGDTGKYKFIPHHHRGEVQFL 9.0 4.0 - - 3784_20:48253920-48253920 G>A_VSRPEGDTGKYKFIPHHHRGEVQFL 0.0 16:56839486-56839486 T>A 1.0 4180 BREAST - - - - NUP93 ENST00000568656,p.I144N|ENST00000567641,p.I21N|ENST00000308159,p.I144N|ENST00000569863,p.I21N|ENST00000569842,p.I144N|uc010vhi.2,p.I21N|uc002eka.3,p.I144N|NM_014669,p.I144N|ENST00000564887,p.I21N|NM_001242796,p.I21N|ENST00000568283,p.I21N|NM_001242795,p.I21N|ENST00000542526,p.I21N|uc002ekb.3,p.I21N retained_intron, protein_coding, processed_transcript, TEC uc010vhi.2 nonsynonymous SNV exon3 c.T62A p.I21N SMLVEWEQVKQRILHTLLASGEDAL SMLVEWEQVKQRNLHTLLASGEDAL 10.0 6.0 - - 4180_16:56839486-56839486 T>A_SMLVEWEQVKQRNLHTLLASGEDAL 0.0 22:42382100-42382100 C>G 1.0 3775 CERVICAL - - - - SEPT3 ENST00000406029,p.I41M|ENST00000449288,p.I92M|NM_019106,p.I105M|uc003bbs.4,p.I105M|ENST00000396425,p.I105M|ENST00000396426,p.I105M|uc003bbr.4,p.I105M|NM_145733,p.I105M|ENST00000291236,p.I41M|uc011apj.2,p.I41M retained_intron, protein_coding, nonsense_mediated_decay uc011apj.2 nonsynonymous SNV exon2 c.C123G p.I41M WNREEKIPKTVEIKAIGHVIEEGGV WNREEKIPKTVEMKAIGHVIEEGGV 5.0 6.0 - - 3775_22:42382100-42382100 C>G_WNREEKIPKTVEMKAIGHVIEEGGV 0.0 6:131904992-131904992 G>A 0.0 2359 MELANOMA - - ID=COSM1073247;OCCURENCE=1(endometrium) - ARG1 uc010kfm.2,p.G313R|uc003qcp.2,p.G305R|NM_000045,p.G305R|ENST00000476845,p.G219R|NM_001244438,p.G313R|ENST00000356962,p.G313R|ENST00000368087,p.G305R protein_coding, processed_transcript uc010kfm.2 nonsynonymous SNV exon8 c.G937A p.G313R VNTAVAITLACFGLAREGNHKPIDY VNTAVAITLACFRLAREGNHKPIDY 1.0 7.0 - - 2359_6:131904992-131904992 G>A_VNTAVAITLACFRLAREGNHKPIDY 0.0 2:21260121-21260121 C>T 0.0 4298 COLORECTAL - - ID=COSM3380027;OCCURENCE=1(pancreas) - APOB ENST00000399256,p.V182M|uc002red.3,p.V182M|NM_000384,p.V182M|ENST00000233242,p.V182M protein_coding uc002red.3 nonsynonymous SNV exon6 c.G544A p.V182M TEEAKQVLFLDTVYGNCSTHFTVKT TEEAKQVLFLDTMYGNCSTHFTVKT 1.0 10.0 - - 4298_2:21260121-21260121 C>T_TEEAKQVLFLDTMYGNCSTHFTVKT 0.0 16:67270598-67270598 G>A 1.0 3919 MELANOMA - - ID=COSM140766;OCCURENCE=1(skin) - FHOD1 NM_013241,p.S394F|uc010ced.3,p.S201F|uc002esl.3,p.S394F|ENST00000258201,p.S394F retained_intron, protein_coding, nonsense_mediated_decay uc010ced.3 nonsynonymous SNV exon9 c.C602T p.S201F PTGPASPVGPTSSTGPALLTGPASS PTGPASPVGPTSFTGPALLTGPASS 9.0 6.0 - - 3919_16:67270598-67270598 G>A_PTGPASPVGPTSFTGPALLTGPASS 0.0 1:28793028-28793028 C>T 1.0 3466 MELANOMA - - - - PHACTR4 uc001bpy.3,p.S201F|NM_001048183,p.S191F|ENST00000373839,p.S191F|uc001bpw.3,p.S191F|uc001bpu.3,p.S191F|ENST00000373836,p.S201F|NM_023923,p.S201F|uc001bpx.3,p.S175F protein_coding, processed_transcript uc001bpy.3 nonsynonymous SNV exon5 c.C602T p.S201F HEASEGQAKDATSSGGTARFIISTS HEASEGQAKDATFSGGTARFIISTS 8.0 8.0 - - 3466_1:28793028-28793028 C>T_HEASEGQAKDATFSGGTARFIISTS 0.0 12:53345928-53345928 G>A 1.0 3903 MELANOMA - - - - KRT18 uc001sbe.3,p.R325K|ENST00000550600,p.R325K|ENST00000388835,p.R325K|uc009zmn.2,p.R325K|ENST00000388837,p.R325K|NM_000224,p.R325K|NM_199187,p.R325K|uc001sbg.3,p.R325K retained_intron, protein_coding uc009zmn.2 nonsynonymous SNV exon7 c.G974A p.R325K MRNLKASLENSLREVEARYALQMEQ MRNLKASLENSLKEVEARYALQMEQ 9.0 7.0 - - 3903_12:53345928-53345928 G>A_MRNLKASLENSLKEVEARYALQMEQ 0.0 9:33047314-33047314 G>C 1.0 4252 COLORECTAL - - - - SMU1 NM_018225,p.L507V|uc003zsf.1,p.L507V|uc011lnu.1,p.L346V|ENST00000397149,p.L507V|ENST00000536631,p.L346V protein_coding uc011lnu.1 nonsynonymous SNV exon10 c.C1036G p.L346V HQNLIATYSEDGLLKLWKP HQNLIATYSEDGVLKLWKP 9.0 10.0 - - 4252_9:33047314-33047314 G>C_HQNLIATYSEDGVLKLWKP 0.0 7:74564379-74564379 C>T 1.0 4320 COLORECTAL - - - - GTF2IRD2,GTF2IRD2B NM_173537,p.T709M|NM_001003795,p.T709M|ENST00000418185,p.T256M|uc003ubu.3,p.T539M|ENST00000312575,p.T709M|uc003ubt.3,p.T709M|uc010lcd.3,p.T462M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010lcd.3 nonsynonymous SNV exon15 c.C1385T p.T462M ELDSQYGSLLYYTEIKWLSRGLVLK ELDSQYGSLLYYMEIKWLSRGLVLK 10.0 9.0 - - 4320_7:74564379-74564379 C>T_ELDSQYGSLLYYMEIKWLSRGLVLK 0.0 12:6646556-6646556 G>A 0.0 2098 MELANOMA - - - - GAPDH ENST00000396856,p.M100I|ENST00000396859,p.M175I|uc031qfw.1,p.M133I|ENST00000396861,p.M175I|NM_001289746,p.M175I|ENST00000396858,p.M133I|ENST00000229239,p.M175I|NM_001289745,p.M175I|uc001qop.2,p.M175I|NM_002046,p.M175I|NM_001256799,p.M133I retained_intron, protein_coding, processed_transcript uc031qfw.1 nonsynonymous SNV exon6 c.G399A p.M133I VIHDNFGIVEGLMTTVHAITATQKT VIHDNFGIVEGLITTVHAITATQKT 10.0 1.0 CD8 - 2098_12:6646556-6646556 G>A_VIHDNFGIVEGLITTVHAITATQKT 1.0 12:52284785-52284785 C>G 0.0 4326 BREAST - - - - ANKRD33 ENST00000301190,p.P352R|uc001rze.3,p.P248R|NM_182608,p.P352R|uc001rzd.3,p.P352R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001rze.3 nonsynonymous SNV exon6 c.C743G p.P248R KSVPELLGTAPPPPLVPQSPPGSPQ KSVPELLGTAPPRPLVPQSPPGSPQ 2.0 10.0 - - 4326_12:52284785-52284785 C>G_KSVPELLGTAPPRPLVPQSPPGSPQ 0.0 12:247905-247905 C>T 0.0 4160 COLORECTAL - - - - IQSEC3 NM_015232,p.A156V|ENST00000326261,p.A459V|ENST00000538872,p.A459V|uc001qhw.2,p.A459V|ENST00000382841,p.A156V|uc001qhu.1,p.A156V|NM_001170738,p.A459V retained_intron, protein_coding, processed_transcript uc001qhw.2 nonsynonymous SNV exon4 c.C1376T p.A459V PGLEAEGRAPESAGPGPGDDAAETP PGLEAEGRAPESVGPGPGDDAAETP 4.0 8.0 - - 4160_12:247905-247905 C>T_PGLEAEGRAPESVGPGPGDDAAETP 0.0 5:135392422-135392422 ->C 1.0 4346 COLORECTAL - - - - TGFBI ENST00000305126,p.V539fs|NM_000358,p.V539fs|uc003lbh.4,p.V365fs|uc003lbg.4,p.V272fs|ENST00000442011,p.V539fs|uc011cyb.2,p.V365fs|uc003lbf.4,p.V539fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cyb.2 frameshift insertion exon8 c.1095dupC p.V365fs LTETLNREGVYTVFAPTNEAFRALP LTETLNREGVYTVLCSHK 10.0 7.0 - - 4346_5:135392422-135392422 ->C_LTETLNREGVYTVLCSHK 0.0 9:125152621-125152621 G>A 0.0 4278 COLORECTAL 0.01 - - - PTGS1 NM_001271165,p.V372I|uc004bmh.2,p.V372I|NM_001271368,p.V419I|NM_001271367,p.V335I|ENST00000373698,p.V372I|NM_001271166,p.V335I|NM_001271164,p.V433I|uc031tey.1,p.V433I|uc004bmg.2,p.V481I|ENST00000362012,p.V481I|uc011lys.2,p.V419I|uc010mwb.2,p.V335I|NM_080591,p.V444I|ENST00000540753,p.V419I|NM_000962,p.V481I|ENST00000223423,p.V444I|uc004bmf.2,p.V444I|uc031tez.1,p.V335I|uc011lyt.2,p.V372I protein_coding uc031tez.1 nonsynonymous SNV exon10 c.G1003A p.V335I FGMKPYTSFQELVGEKEMAAELEEL FGMKPYTSFQELIGEKEMAAELEEL 7.0 2.0 - - 4278_9:125152621-125152621 G>A_FGMKPYTSFQELIGEKEMAAELEEL 0.0 4:138451538-138451538 C>T 1.0 2556 MELANOMA - - - - PCDH18 NM_019035,p.E569K|ENST00000344876,p.E569K|uc003ihg.4,p.E349K|NM_001300828,p.E569K|ENST00000412923,p.E569K|uc003ihe.4,p.E569K|uc003ihf.4,p.E562K|ENST00000507846,p.E349K protein_coding uc003ihg.4 nonsynonymous SNV exon2 c.G1045A p.E349K VSNTTVVLTIIDENDNVPVVIGPAL VSNTTVVLTIIDKNDNVPVVIGPAL 5.0 3.0 - - 2556_4:138451538-138451538 C>T_VSNTTVVLTIIDKNDNVPVVIGPAL 0.0 1:207737268-207737268 T>G 0.0 4335 COLORECTAL - - - - CR1 ENST00000367051,p.F766V|ENST00000400960,p.F766V|ENST00000367053,p.F766V|ENST00000367049,p.F1216V|uc021pij.1,p.F766V|NM_000651,p.F1216V|uc001hfy.3,p.F766V|NM_000573,p.F766V|uc001hfx.3,p.F1216V retained_intron, protein_coding, processed_transcript uc021pij.1 nonsynonymous SNV exon14 c.T2296G p.F766V LHAERTQRDKDNFSPGQEVFYSCEP LHAERTQRDKDNVSPGQEVFYSCEP 10.0 2.0 - - 4335_1:207737268-207737268 T>G_LHAERTQRDKDNVSPGQEVFYSCEP 0.0 21:30434492-30434492 C>A 1.0 4180 BREAST - - - - CCT8 ENST00000286788,p.R390M|uc002ynb.3,p.R390M|uc011acp.2,p.R371M|NM_006585,p.R390M|NM_001282907,p.R371M|ENST00000542732,p.R371M|uc002yna.3,p.R339M|uc011acq.2,p.R317M|ENST00000540844,p.R317M|NM_001282908,p.R339M|NM_001282909,p.R317M retained_intron, protein_coding, processed_transcript uc011acq.2 nonsynonymous SNV exon10 c.G950T p.R317M RGSTDNLMDDIERAVDDGVNTFKVL RGSTDNLMDDIEMAVDDGVNTFKVL 10.0 8.0 CD8 - 4180_21:30434492-30434492 C>A_RGSTDNLMDDIEMAVDDGVNTFKVL 2.0 16:30536932-30536932 G>C 1.0 4110 BILE DUCT - - - - ZNF768 ENST00000562803,p.L146V|uc010vex.2,p.L146V|NM_024671,p.L177V|uc002dyk.4,p.L177V|uc010vew.2,p.L146V|ENST00000380412,p.L177V protein_coding uc010vex.2 nonsynonymous SNV exon4 c.C436G p.L146V AQSSKFQEGAEMLLNPEEKSPLNIS AQSSKFQEGAEMVLNPEEKSPLNIS 7.0 9.0 - - 4110_16:30536932-30536932 G>C_AQSSKFQEGAEMVLNPEEKSPLNIS 0.0 5:82406865-82406865 C>T 1.0 3879 MELANOMA - - - - XRCC4 uc003kib.3,p.S53F|NM_022550,p.S53F|ENST00000282268,p.S53F|ENST00000511817,p.S53F|NM_003401,p.S53F|uc003kia.1,p.S53F|NM_022406,p.S53F|ENST00000396027,p.S53F|uc003kic.3,p.S53F|uc003kie.3,p.S53F|uc003kid.3,p.S53F|ENST00000338635,p.S53F protein_coding, processed_transcript uc003kie.3 nonsynonymous SNV exon3 c.C158T p.S53F SAWTGTVSESEISQEADDMAMEKGK SAWTGTVSESEIFQEADDMAMEKGK 6.0 6.0 - - 3879_5:82406865-82406865 C>T_SAWTGTVSESEIFQEADDMAMEKGK 0.0 1:245850810-245850810 G>T 0.0 4252 COLORECTAL - - - - KIF26B ENST00000407071,p.V1509F|uc001ibg.1,p.V1127F|uc001ibf.1,p.V1509F|uc001ibh.1,p.V751F|NM_018012,p.V1509F|ENST00000366518,p.V1128F retained_intron, protein_coding, processed_transcript uc001ibh.1 nonsynonymous SNV exon3 c.G2251T p.V751F VSASPVTDNFRRVVDGCEMALPGLA VSASPVTDNFRRFVDGCEMALPGLA 4.0 9.0 - - 4252_1:245850810-245850810 G>T_VSASPVTDNFRRFVDGCEMALPGLA 0.0 7:40535981-40535981 C>T 0.0 4281 COLORECTAL - - - - SUGCT NM_001193313,p.P369L|uc003tho.2,p.P321L|uc003thn.2,p.P369L|ENST00000335693,p.P369L|NM_001193312,p.P321L|ENST00000401647,p.P321L protein_coding, processed_transcript, nonsense_mediated_decay uc003tho.2 nonsynonymous SNV exon11 c.C962T p.P321L GPINNMKNVFAEPQVLHNGLVMEME GPINNMKNVFAELQVLHNGLVMEME 5.0 7.0 - - 4281_7:40535981-40535981 C>T_GPINNMKNVFAELQVLHNGLVMEME 0.0 12:54686255-54686255 C>G 1.0 4213 COLORECTAL - - - - NFE2 NM_006163,p.G342A|uc001sfq.4,p.G342A|ENST00000435572,p.G342A|ENST00000540264,p.G342A|uc001sfr.5,p.G342A|NM_001261461,p.G342A|ENST00000553070,p.G342A|ENST00000312156,p.G342A|uc009znl.4,p.G342A|NM_001136023,p.G342A|uc009znk.4,p.G342A protein_coding uc009znl.4 nonsynonymous SNV exon4 c.G1025C p.G342A YRDIFQHLRDESGNSYSPEEYALQQ YRDIFQHLRDESANSYSPEEYALQQ 6.0 6.0 - - 4213_12:54686255-54686255 C>G_YRDIFQHLRDESANSYSPEEYALQQ 0.0 16:69996951-69996951 C>A 0.0 4246 COLORECTAL - - - - CLEC18A ENST00000568461,p.N428K|uc002eya.4,p.N428K|ENST00000449317,p.N437K|uc010vlo.3,p.N428K|ENST00000393701,p.N428K|NM_001136214,p.N428K|ENST00000288040,p.N428K|NM_182619,p.N428K|uc031qwv.1,p.N428K|uc002exz.4,p.N428K|NM_001271197,p.N428K retained_intron, protein_coding uc031qwv.1 nonsynonymous SNV exon12 c.C1284A p.N428K AFNWNDQRCKTRNRYICQFAQEHIS AFNWNDQRCKTRKRYICQFAQEHIS 5.0 2.0 - - 4246_16:69996951-69996951 C>A_AFNWNDQRCKTRKRYICQFAQEHIS 0.0 7:133160209-133160209 C>T 1.0 4301 MELANOMA - - ID=COSM1548154;OCCURENCE=1(lung) - EXOC4 NM_021807,p.P437L|NM_001037126,p.P437L|uc003vrj.3,p.P437L|ENST00000253861,p.P437L|uc003vri.3,p.P437L|uc011kpo.2,p.P336L|ENST00000393161,p.P437L|uc003vrk.3,p.P437L|ENST00000539845,p.P336L retained_intron, protein_coding, processed_transcript uc011kpo.2 nonsynonymous SNV exon8 c.C1007T p.P336L FAAFFAKKKPQRPKNSLFKFESSSH FAAFFAKKKPQRLKNSLFKFESSSH 9.0 10.0 CD8 - 4301_7:133160209-133160209 C>T_FAAFFAKKKPQRLKNSLFKFESSSH 1.0 16:69177182-69177182 A>G 1.0 4329 COLORECTAL - - - - CIRH1A ENST00000352319,p.I210V|uc010cfi.3,p.I127V|NM_032830,p.I210V|ENST00000567460,p.I127V|uc010cfj.1,p.I29V|uc002ewr.2,p.I210V|uc002ewt.4,p.I127V|uc002ews.4,p.I210V|ENST00000566227,p.I162V|ENST00000314423,p.I210V|ENST00000563094,p.I210V|ENST00000562237,p.I224V retained_intron, protein_coding, processed_transcript uc010cfj.1 nonsynonymous SNV exon1 c.A85G p.I29V VWGVAFLSDGTIISVDSAGKVQFWD VWGVAFLSDGTIVSVDSAGKVQFWD 10.0 7.0 - - 4329_16:69177182-69177182 A>G_VWGVAFLSDGTIVSVDSAGKVQFWD 0.0 9:114840971-114840971 C>T 1.0 3466 MELANOMA - - - - SUSD1 uc010mui.3,p.E534K|NM_001282640,p.E534K|uc010muj.3,p.E534K|ENST00000374270,p.E534K|ENST00000374263,p.E534K|NM_001282643,p.E534K|uc004bfu.3,p.E534K|ENST00000374264,p.E534K|NM_022486,p.E534K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010muj.3 nonsynonymous SNV exon12 c.G1600A p.E534K LFHIWGQRWYQKEFAQEMTFNISSS LFHIWGQRWYQKKFAQEMTFNISSS 4.0 9.0 - - 3466_9:114840971-114840971 C>T_LFHIWGQRWYQKKFAQEMTFNISSS 0.0 2:191844514-191844514 G>A 1.0 3466 MELANOMA - - - - STAT1 uc010fse.2,p.P571S|NM_139266,p.P571S|uc002usk.2,p.P571S|uc021vue.1,p.P383S|ENST00000361099,p.P571S|NM_007315,p.P571S|uc002usl.2,p.P573S|ENST00000409465,p.P571S|ENST00000392322,p.P571S|uc002usj.2,p.P571S|ENST00000392323,p.P573S retained_intron, protein_coding, nonsense_mediated_decay uc021vue.1 nonsynonymous SNV exon18 c.C1147T p.P383S ESILELIKKHLLPLWNDGCIMGFIS ESILELIKKHLLSLWNDGCIMGFIS 10.0 7.0 - - 3466_2:191844514-191844514 G>A_ESILELIKKHLLSLWNDGCIMGFIS 0.0 X:86868983-86868983 T>G 0.0 4160 COLORECTAL - - - - KLHL4 uc004efb.2,p.L176V|ENST00000373114,p.L176V|NM_019117,p.L176V|ENST00000373119,p.L176V|NM_057162,p.L176V|uc004efa.2,p.L176V protein_coding uc004efb.2 nonsynonymous SNV exon2 c.T526G p.L176V HAEQTLRKMENYLKEKQLCDVLLIA HAEQTLRKMENYVKEKQLCDVLLIA 2.0 4.0 - - 4160_X:86868983-86868983 T>G_HAEQTLRKMENYVKEKQLCDVLLIA 0.0 9:35806217-35806217 C>T 1.0 3713 MELANOMA 0.0032 - - - NPR2 uc010mlb.3,p.R763W|ENST00000447210,p.R46W|ENST00000342694,p.R787W|uc003zyd.3,p.R787W|NM_003995,p.R787W retained_intron, protein_coding, nonsense_mediated_decay uc010mlb.3 nonsynonymous SNV exon14 c.C2287T p.R763W ERPDFGQIKGFIRRFNKEGGTSILD ERPDFGQIKGFIWRFNKEGGTSILD 4.0 7.0 - - 3713_9:35806217-35806217 C>T_ERPDFGQIKGFIWRFNKEGGTSILD 0.0 19:38103365-38103365 G>A 1.0 4281 COLORECTAL 0.0005 - ID=COSM172757;OCCURENCE=1(large_intestine) - ZNF540 ENST00000589117,p.R363H|NM_152606,p.R395H|uc002ogu.4,p.R395H|NM_001172226,p.R363H|ENST00000343599,p.R395H|ENST00000316433,p.R395H|uc010efq.4,p.R363H|ENST00000586134,p.R395H|uc002ogq.4,p.R395H|NM_001172225,p.R395H|ENST00000592533,p.R395H retained_intron, protein_coding, processed_transcript uc010efq.4 nonsynonymous SNV exon4 c.G1088A p.R363H YECKECGKSFNVRGQLNRHKTIHTG YECKECGKSFNVHGQLNRHKTIHTG 4.0 6.0 - - 4281_19:38103365-38103365 G>A_YECKECGKSFNVHGQLNRHKTIHTG 0.0 X:27765352-27765352 G>A 0.0 3795 MELANOMA - - - - DCAF8L2 ENST00000451261,p.E114K|uc011mjy.2,p.E114K|NM_001136533,p.E114K protein_coding, processed_transcript uc011mjy.2 nonsynonymous SNV exon1 c.G340A p.E114K HYPLVGEEETEREEEDEEIQEEGGE HYPLVGEEETERKEEDEEIQEEGGE 1.0 8.0 - - 3795_X:27765352-27765352 G>A_HYPLVGEEETERKEEDEEIQEEGGE 0.0 5:23524619-23524619 A>G 1.0 4284 COLORECTAL - - - - PRDM9 ENST00000296682,p.E376G|NM_020227,p.E376G|uc003jgo.3,p.E376G protein_coding uc003jgo.3 nonsynonymous SNV exon10 c.A1127G p.E376G ELGIKWGSKWKKELMAGREPKPEIH ELGIKWGSKWKKGLMAGREPKPEIH 3.0 3.0 - - 4284_5:23524619-23524619 A>G_ELGIKWGSKWKKGLMAGREPKPEIH 0.0 5:1394869-1394869 C>T 0.0 4252 COLORECTAL - - - - SLC6A3 ENST00000270349,p.R615H|NM_001044,p.R615H|ENST00000453492,p.R615H|uc003jck.3,p.R615H retained_intron, protein_coding uc003jck.3 nonsynonymous SNV exon15 c.G1844A p.R615H LVDRGEVRQFTLRHWLKV LVDRGEVRQFTLHHWLKV 4.0 9.0 - - 4252_5:1394869-1394869 C>T_LVDRGEVRQFTLHHWLKV 0.0 1:25747154-25747154 T>G 0.0 4189 MELANOMA - - - - RHCE uc001bkg.3,p.K42Q|NM_138617,p.K42Q|ENST00000349438,p.K42Q|ENST00000340849,p.K42Q|uc001bkh.3,p.K42Q|NM_138618,p.K42Q|NM_020485,p.K42Q|ENST00000455194,p.K42Q|ENST00000294413,p.K42Q|NM_138616,p.K42Q|uc001bki.3,p.K42Q|uc001bkf.3,p.K42Q|ENST00000243186,p.K42Q|ENST00000413854,p.K42Q|ENST00000346452,p.K42Q|uc031pln.1,p.K42Q|uc031plo.1,p.K42Q|ENST00000425135,p.K42Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031plo.1 nonsynonymous SNV exon1 c.A124C p.K42Q FFTHYDASLEDQKGLVASYQVGQDL FFTHYDASLEDQQGLVASYQVGQDL 5.0 10.0 - - 4189_1:25747154-25747154 T>G_FFTHYDASLEDQQGLVASYQVGQDL 0.0 14:21485858-21485858 G>A 1.0 3903 MELANOMA - - - - NDRG2 uc001vyy.3,p.S338F|NM_201537,p.S338F|uc001vzd.3,p.S338F|ENST00000397853,p.S338F|uc001vyu.3,p.S295F|NM_016250,p.S324F|uc001vyw.3,p.S324F|ENST00000553503,p.S324F|ENST00000350792,p.S324F|uc001vza.3,p.S324F|uc001vyt.3,p.S251F|NM_001282213,p.S324F|ENST00000555158,p.S324F|ENST00000298684,p.S295F|NM_001282211,p.S334F|ENST00000397858,p.S338F|ENST00000397847,p.S327F|ENST00000397856,p.S308F|NM_201539,p.S338F|NM_001282215,p.S327F|ENST00000554104,p.S251F|ENST00000556147,p.S338F|ENST00000360463,p.S324F|NM_201536,p.S324F|NM_201541,p.S324F|ENST00000554143,p.S324F|NM_201540,p.S338F|uc010aig.3,p.S327F|ENST00000298687,p.S338F|ENST00000397855,p.S295F|uc001vzc.3,p.S308F|NM_001282214,p.S324F|uc001vzb.3,p.S278F|uc001vyv.3,p.S324F|NM_201535,p.S338F|ENST00000403829,p.S334F|uc001vzg.3,p.S324F|uc001vzf.3,p.S324F|uc001vyx.3,p.S338F|ENST00000397844,p.S308F|NM_001282212,p.S308F|NM_201538,p.S324F|ENST00000397851,p.S338F|uc001vyz.3,p.S324F|uc010tll.2,p.S334F|NM_001282216,p.S278F|uc001vze.3,p.S338F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010tll.2 nonsynonymous SNV exon15 c.C1001T p.S334F SRSRTASLTSAASVDGNRSRSRTLS SRSRTASLTSAAFVDGNRSRSRTLS 7.0 9.0 - - 3903_14:21485858-21485858 G>A_SRSRTASLTSAAFVDGNRSRSRTLS 0.0 14:86089229-86089229 G>T 0.0 4238 COLORECTAL - - - - FLRT2 ENST00000554746,p.M457I|ENST00000330753,p.M457I|uc010atd.3,p.M457I|uc001xvr.3,p.M457I|NM_013231,p.M457I|uc021rxf.1,p.M457I retained_intron, protein_coding, processed_transcript uc021rxf.1 nonsynonymous SNV exon1 c.G1371T p.M457I FTVMAYKLTWVKMGHSLVGGIVQER FTVMAYKLTWVKIGHSLVGGIVQER 2.0 6.0 - - 4238_14:86089229-86089229 G>T_FTVMAYKLTWVKIGHSLVGGIVQER 0.0 7:92129085-92129085 C>T 0.0 3775 CERVICAL - - - - PEX1 uc003uly.3,p.G884E|uc010ley.3,p.G827E|ENST00000248633,p.G884E|uc011khr.2,p.G676E|NM_000466,p.G884E|ENST00000428214,p.G827E|ENST00000438045,p.G562E|uc011khs.2,p.G562E|NM_001282678,p.G676E|NM_001282677,p.G827E retained_intron, protein_coding, nonsense_mediated_decay uc011khs.2 nonsynonymous SNV exon13 c.G1685A p.G562E RQRTGILLYGPPGTGKTLLAGVIAR RQRTGILLYGPPETGKTLLAGVIAR 8.0 5.0 - - 3775_7:92129085-92129085 C>T_RQRTGILLYGPPETGKTLLAGVIAR 0.0 11:6424891-6424891 G>C 0.0 3795 MELANOMA - - - - APBB1 NM_001257320,p.Q36E|ENST00000389906,p.Q295E|NM_145689,p.Q295E|uc031pyv.1,p.Q75E|uc009yfb.3,p.Q36E|ENST00000299402,p.Q295E|NM_001257326,p.Q36E|NM_001257319,p.Q75E|ENST00000530885,p.Q75E|ENST00000311051,p.Q295E|uc009yfa.3,p.Q36E|uc001mdb.2,p.Q295E|uc010rag.2,p.Q36E|uc001mdd.4,p.Q75E|uc031pyu.1,p.Q295E|NM_001257323,p.Q75E|ENST00000533407,p.Q36E|NM_001257321,p.Q36E|NM_001257325,p.Q60E|uc001mdc.1,p.Q295E|uc009yey.3,p.Q36E|uc031pyt.1,p.Q60E|NM_001164,p.Q295E|uc001mde.3,p.Q36E|uc010rah.2,p.Q36E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031pyv.1 nonsynonymous SNV exon2 c.C223G p.Q75E PGRASPSQGSSPQEESQLTWTGFAH PGRASPSQGSSPEEESQLTWTGFAH 7.0 1.0 - - 3795_11:6424891-6424891 G>C_PGRASPSQGSSPEEESQLTWTGFAH 0.0 20:52601929-52601929 G>A 0.0 4345 COLORECTAL - - - - BCAS1 uc010zzb.1,p.S294L|ENST00000371440,p.S391L|uc010gil.1,p.S346L|uc002xws.2,p.S346L|uc010gim.2,p.S294L|NM_003657,p.S346L|ENST00000371435,p.S346L|ENST00000434986,p.S104L|uc010zza.1,p.S104L|ENST00000395961,p.S346L|uc002xwt.2,p.S346L|ENST00000448484,p.S253L protein_coding uc010zzb.1 nonsynonymous SNV exon5 c.C881T p.S294L QGAGKNSKGCNPSGHTQSVTTPEPA QGAGKNSKGCNPLGHTQSVTTPEPA 6.0 2.0 - - 4345_20:52601929-52601929 G>A_QGAGKNSKGCNPLGHTQSVTTPEPA 0.0 20:33080354-33080354 G>A 1.0 3784 MELANOMA - - - - ITCH uc010geu.2,p.V831I|ENST00000262650,p.V831I|NM_001257137,p.V831I|ENST00000374864,p.V790I|ENST00000535650,p.V680I|NM_001257138,p.V680I|NM_031483,p.V790I|uc002xak.3,p.V790I|uc010zuj.2,p.V680I protein_coding, processed_transcript uc010zuj.2 nonsynonymous SNV exon22 c.G2038A p.V680I IDNEKRMRLLQFVTGTCRLPVGGFA IDNEKRMRLLQFITGTCRLPVGGFA 10.0 6.0 - - 3784_20:33080354-33080354 G>A_IDNEKRMRLLQFITGTCRLPVGGFA 0.0 11:6644247-6644247 C>T 0.0 4177 PANCREATIC - - - - DCHS1 uc001mem.1,p.G2887E|ENST00000299441,p.G2887E|NM_003737,p.G2887E protein_coding uc001mem.1 nonsynonymous SNV exon21 c.G8660A p.G2887E RAPGSGTATSGGGGRTRREAPRELR RAPGSGTATSGGEGRTRREAPRELR 3.0 9.0 - - 4177_11:6644247-6644247 C>T_RAPGSGTATSGGEGRTRREAPRELR 0.0 X:71877487-71877487 C>T 1.0 4259 COLORECTAL - - - - PHKA1 NM_001172436,p.R290H|ENST00000541944,p.R290H|ENST00000373545,p.R290H|ENST00000373539,p.R290H|ENST00000373542,p.R290H|uc004eay.4,p.R290H|NM_002637,p.R290H|NM_001122670,p.R290H|uc004eax.4,p.R290H|ENST00000339490,p.R290H|uc011mqi.2,p.R290H protein_coding uc011mqi.2 nonsynonymous SNV exon9 c.G869A p.R290H LTKQEIITKLQGRYGCCRFLRDGYK LTKQEIITKLQGHYGCCRFLRDGYK 6.0 4.0 - - 4259_X:71877487-71877487 C>T_LTKQEIITKLQGHYGCCRFLRDGYK 0.0 5:1406344-1406344 A>G 0.0 4258 ENDOMETRIAL - - - - SLC6A3 ENST00000270349,p.W520R|NM_001044,p.W520R|uc003jck.3,p.W520R|ENST00000453492,p.W520R retained_intron, protein_coding uc003jck.3 nonsynonymous SNV exon12 c.T1558C p.W520R IQQMTGQRPSLYWRLCWKLVSPCFL IQQMTGQRPSLYRRLCWKLVSPCFL 2.0 9.0 - - 4258_5:1406344-1406344 A>G_IQQMTGQRPSLYRRLCWKLVSPCFL 0.0 17:62856500-62856500 G>A 1.0 4284 COLORECTAL - - - - LRRC37A3 uc031rdx.1,p.A1261V|uc010wqg.1,p.A373V|uc031rdo.1,p.A293V|uc002jex.1,p.A232V|ENST00000584306,p.A1255V|uc010wqf.1,p.A293V|ENST00000400877,p.A293V|uc002jey.2,p.A1255V|uc031reb.1,p.A1206V|ENST00000334962,p.A232V|uc031rdu.1,p.A1131V|uc031rdz.1,p.A1231V|ENST00000339474,p.A373V|uc031rdq.1,p.A1204V|NM_199340,p.A1255V|ENST00000319651,p.A1255V|uc031rea.1,p.A1231V|uc031rdn.1,p.A261V|uc010dek.2,p.A1180V protein_coding, processed_transcript uc031reb.1 nonsynonymous SNV exon7 c.C3617T p.A1206V AAVSVLKPFSKGAPSTSSPAKALPQ AAVSVLKPFSKGVPSTSSPAKALPQ 10.0 9.0 - - 4284_17:62856500-62856500 G>A_AAVSVLKPFSKGVPSTSSPAKALPQ 0.0 15:40099220-40099220 T>A 1.0 3713 MELANOMA - - - - GPR176 uc010uck.2,p.I93F|NM_001271854,p.I137F|uc001zkj.2,p.I138F|uc001zkk.2,p.I137F|NM_001271855,p.I93F|NM_007223,p.I138F|ENST00000561100,p.I138F|ENST00000543580,p.I93F|ENST00000299092,p.I137F protein_coding, processed_transcript uc010uck.2 nonsynonymous SNV exon2 c.A277T p.I93F VFCSVTILSFPAIALDRYYSVLYPL VFCSVTILSFPAFALDRYYSVLYPL 4.0 8.0 - - 3713_15:40099220-40099220 T>A_VFCSVTILSFPAFALDRYYSVLYPL 0.0 1:158151415-158151415 G>A 0.0 4186 BREAST - - - - CD1D uc009wss.3,p.D78N|uc009wsr.1,p.D78N|uc001frr.3,p.D78N|ENST00000368171,p.D78N|NM_001766,p.D78N protein_coding uc009wss.3 nonsynonymous SNV exon2 c.G232A p.D78N RSLKPWSQGTFSDQQWETLQHIFRV RSLKPWSQGTFSNQQWETLQHIFRV 1.0 10.0 - - 4186_1:158151415-158151415 G>A_RSLKPWSQGTFSNQQWETLQHIFRV 0.0 11:120348974-120348974 G>C 1.0 4134 NSCLC - - - 1 ARHGEF12 NM_001301084,p.Q1111H|ENST00000397843,p.Q1214H|ENST00000532993,p.Q1111H|uc009zau.1,p.Q1111H|uc001pxl.2,p.Q1214H|NM_001198665,p.Q1195H|ENST00000356641,p.Q1195H|NM_015313,p.Q1214H|uc009zat.3,p.Q1195H retained_intron, protein_coding uc009zau.1 nonsynonymous SNV exon37 c.G3333C p.Q1111H KSEVRDLFVAERQFAKEQHTDGTLK KSEVRDLFVAERHFAKEQHTDGTLK 8.0 4.0 - - 4134_11:120348974-120348974 G>C_KSEVRDLFVAERHFAKEQHTDGTLK 0.0 19:53911036-53911036 A>T 0.0 3775 CERVICAL - - - - ZNF765 ENST00000505866,p.R23S|uc010ydx.2,p.R76S|uc002qbm.3,p.R76S|ENST00000396408,p.R76S|NM_001040185,p.R76S protein_coding, processed_transcript, nonsense_mediated_decay uc010ydx.2 nonsynonymous SNV exon6 c.A228T p.R76S GNREVFHAGTSQRHESHHNGDFCFQ GNREVFHAGTSQSHESHHNGDFCFQ 6.0 6.0 - - 3775_19:53911036-53911036 A>T_GNREVFHAGTSQSHESHHNGDFCFQ 0.0 8:132002719-132002719 G>A 0.0 4275 COLORECTAL - - ID=COSM120831;OCCURENCE=1(upper_aerodigestive_tract) - ADCY8 uc003ytd.4,p.R344W|NM_001115,p.R344W|ENST00000286355,p.R344W|ENST00000377928,p.R344W|uc010mds.3,p.R344W protein_coding uc010mds.3 nonsynonymous SNV exon2 c.C1030T p.R344W NTAGIFISYLSDRAQRQAFLETRRC NTAGIFISYLSDWAQRQAFLETRRC 1.0 5.0 - - 4275_8:132002719-132002719 G>A_NTAGIFISYLSDWAQRQAFLETRRC 0.0 13:25016762-25016762 G>A 0.0 4317 COLORECTAL - rs113301501 - - PARP4 uc001upl.3,p.T1170I|NM_006437,p.T1170I|ENST00000381989,p.T1170I retained_intron, protein_coding, processed_transcript uc001upl.3 nonsynonymous SNV exon29 c.C3509T p.T1170I LIIKLSKENSLITQFTSFVAVEKRD LIIKLSKENSLIIQFTSFVAVEKRD 10.0 8.0 - - 4317_13:25016762-25016762 G>A_LIIKLSKENSLIIQFTSFVAVEKRD 0.0 19:8575824-8575824 C>A 1.0 4234 NSCLC - - - - ZNF414 NM_001146175,p.R337L|uc002mke.4,p.R337L|ENST00000393927,p.R337L retained_intron, protein_coding, nonsense_mediated_decay uc002mke.4 nonsynonymous SNV exon7 c.G1010T p.R337L YSCMQCAFSTASRPAMTLHLEDHRP YSCMQCAFSTASLPAMTLHLEDHRP 8.0 9.0 - - 4234_19:8575824-8575824 C>A_YSCMQCAFSTASLPAMTLHLEDHRP 0.0 9:117819464-117819464 C>T 0.0 4320 COLORECTAL - - - 2 TNC ENST00000542877,p.R1152Q|uc022bmj.1,p.R1152Q protein_coding, processed_transcript uc022bmj.1 nonsynonymous SNV exon10 c.G3455A p.R1152Q FIVYLSGLAPSIRTKTISATATTEP FIVYLSGLAPSIQTKTISATATTEP 8.0 7.0 - - 4320_9:117819464-117819464 C>T_FIVYLSGLAPSIQTKTISATATTEP 0.0 12:123805079-123805079 T>G 1.0 4237 NSCLC - - - - SBNO1 uc010tap.2,p.K856T|uc010tao.2,p.K855T|NM_018183,p.K855T|ENST00000420886,p.K856T|ENST00000602750,p.K855T|ENST00000267176,p.K855T|NM_001167856,p.K856T|ENST00000602398,p.K856T protein_coding uc010tap.2 nonsynonymous SNV exon18 c.A2567C p.K856T SQDAVERAQQMKKDLLDKLEKLAED SQDAVERAQQMKTDLLDKLEKLAED 7.0 4.0 - - 4237_12:123805079-123805079 T>G_SQDAVERAQQMKTDLLDKLEKLAED 0.0 5:140953316-140953316 G>A 1.0 3466 MELANOMA - - - - DIAPH1 uc003llc.4,p.P692S|ENST00000520569,p.P647S|ENST00000389057,p.P692S|uc021yep.1,p.P701S|ENST00000518047,p.P692S|ENST00000253811,p.P701S|uc003llb.4,p.P701S|ENST00000398562,p.P680S|uc021yeq.1,p.P692S|uc010jgc.1,p.P140S|NM_005219,p.P701S|ENST00000389054,p.P701S|ENST00000521457,p.P692S|ENST00000398566,p.P692S|ENST00000398557,p.P701S|NM_001079812,p.P692S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021yeq.1 nonsynonymous SNV exon15 c.C2074T p.P692S PPPPPLPGSAGIPPPPPPLPGEAGM PPPPPLPGSAGISPPPPPLPGEAGM 9.0 9.0 - - 3466_5:140953316-140953316 G>A_PPPPPLPGSAGISPPPPPLPGEAGM 0.0 6:147057727-147057727 G>T 0.0 4287 COLORECTAL - - - - ADGB uc010khx.3,p.R963I|uc003qlp.3,p.R215I|ENST00000397944,p.R963I|ENST00000367493,p.R382I|ENST00000367490,p.R25I|NM_024694,p.R963I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010khx.3 nonsynonymous SNV exon23 c.G2888T p.R963I EMNLEQYAVSLLRLMFKSKCKSLES EMNLEQYAVSLLILMFKSKCKSLES 4.0 8.0 - - 4287_6:147057727-147057727 G>T_EMNLEQYAVSLLILMFKSKCKSLES 0.0 X:65819438-65819438 T>A 0.0 4245 COLORECTAL - - - - EDA2R ENST00000253392,p.K282M|NM_001199687,p.K261M|ENST00000450752,p.K282M|ENST00000374719,p.K261M|uc004dws.3,p.K261M|ENST00000451436,p.K137M|uc011mpc.2,p.K137M|ENST00000456230,p.K261M|uc004dwq.3,p.K261M|ENST00000396050,p.K261M|uc004dwt.2,p.K282M|NM_021783,p.K261M|uc022byh.1,p.K263M|NM_001242310,p.K282M protein_coding uc022byh.1 nonsynonymous SNV exon5 c.A788T p.K263M HSPIECTELDLQKFSSSASYTGAET HSPIECTELDLQMFSSSASYTGAET 4.0 5.0 - - 4245_X:65819438-65819438 T>A_HSPIECTELDLQMFSSSASYTGAET 0.0 10:102748754-102748754 A>G 0.0 4110 BILE DUCT - - - - C10orf2 ENST00000370228,p.T263A|ENST00000311916,p.T263A|uc001ksf.2,p.T263A|uc001ksg.2,p.T263A|NM_021830,p.T263A|NM_001163812,p.T263A protein_coding, processed_transcript uc001ksg.2 nonsynonymous SNV exon1 c.A787G p.T263A PLISRRDAEVVLTSRELDSLALNQS PLISRRDAEVVLASRELDSLALNQS 5.0 7.0 - - 4110_10:102748754-102748754 A>G_PLISRRDAEVVLASRELDSLALNQS 0.0 10:101981889-101981889 A>C 0.0 4335 COLORECTAL - - - - CHUK uc001kqp.3,p.L122R|NM_001278,p.L122R|ENST00000370397,p.L122R protein_coding, processed_transcript uc001kqp.3 nonsynonymous SNV exon4 c.T365G p.L122R PENCCGLKESQILSLLSDIGSGIRY PENCCGLKESQIRSLLSDIGSGIRY 7.0 2.0 - - 4335_10:101981889-101981889 A>C_PENCCGLKESQIRSLLSDIGSGIRY 0.0 6:44118360-44118360 G>T 0.0 4077 BILE DUCT - - - - TMEM63B ENST00000259746,p.R556L|NM_018426,p.R556L|ENST00000323267,p.R556L|uc003owr.3,p.R556L|uc003ows.3,p.R459L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003ows.3 nonsynonymous SNV exon15 c.G1376T p.R459L LFDKKFLAEAAIRFECVFLPDNGAF LFDKKFLAEAAILFECVFLPDNGAF 6.0 9.0 - - 4077_6:44118360-44118360 G>T_LFDKKFLAEAAILFECVFLPDNGAF 0.0 2:216981466-216981466 T>C 1.0 4180 BREAST - - - - XRCC5 uc002vfy.3,p.Y74H|ENST00000392132,p.Y74H|ENST00000417391,p.Y61H|ENST00000392133,p.Y74H|NM_021141,p.Y74H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002vfy.3 nonsynonymous SNV exon3 c.T220C p.Y74H DGTDNPLSGGDQYQNITVHRHLMLP DGTDNPLSGGDQHQNITVHRHLMLP 10.0 8.0 - - 4180_2:216981466-216981466 T>C_DGTDNPLSGGDQHQNITVHRHLMLP 0.0 9:126150054-126150054 C>A 0.0 4298 COLORECTAL - - - - DENND1A ENST00000394219,p.S522I|uc011lzl.1,p.S329I|uc004bny.1,p.S293I|ENST00000542603,p.S296I|uc011lzm.1,p.S522I protein_coding, processed_transcript uc011lzm.1 nonsynonymous SNV exon19 c.G1565T p.S522I SSDDECQREEGPSSGFTESFFFSAP SSDDECQREEGPISGFTESFFFSAP 8.0 4.0 - - 4298_9:126150054-126150054 C>A_SSDDECQREEGPISGFTESFFFSAP 0.0 11:406961-406961 C>T 1.0 4345 COLORECTAL - - - - SIGIRR ENST00000397632,p.R254H|ENST00000382520,p.R254H|uc001lpd.2,p.R254H|ENST00000431843,p.R254H|NM_001135054,p.R254H|NM_001135053,p.R254H|ENST00000531205,p.R254H|ENST00000332725,p.R254H|uc001lpg.3,p.R254H|ENST00000528209,p.R150H|NM_021805,p.R254H|uc001lpe.1,p.R254H|uc001lpf.2,p.R254H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001lpg.3 nonsynonymous SNV exon7 c.G761A p.R254H FREGLCRLLELTRRPIFITFEGQRR FREGLCRLLELTHRPIFITFEGQRR 9.0 6.0 - - 4345_11:406961-406961 C>T_FREGLCRLLELTHRPIFITFEGQRR 0.0 4:187539723-187539723 C>A 1.0 4129 NSCLC - - - 1 FAT1 NM_005245,p.V2673F|uc003izf.3,p.V2673F|ENST00000441802,p.V2673F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003izf.3 nonsynonymous SNV exon10 c.G8017T p.V2673F LIGLENEFFTFFVRAVDNGSPSKES LIGLENEFFTFFFRAVDNGSPSKES 10.0 8.0 - - 4129_4:187539723-187539723 C>A_LIGLENEFFTFFFRAVDNGSPSKES 0.0 11:32635921-32635921 C>T 0.0 4252 COLORECTAL - - ID=COSM1638819;OCCURENCE=1(stomach) - CCDC73 uc001mtv.4,p.R648Q|NM_001008391,p.R648Q|ENST00000335185,p.R648Q protein_coding, processed_transcript uc001mtv.4 nonsynonymous SNV exon16 c.G1943A p.R648Q KKNPVPCQKYSLRNSSNVMLDDKQC KKNPVPCQKYSLQNSSNVMLDDKQC 4.0 8.0 - - 4252_11:32635921-32635921 C>T_KKNPVPCQKYSLQNSSNVMLDDKQC 0.0 17:37901554-37901554 C>G 1.0 4134 NSCLC - - ID=COSM417558;OCCURENCE=1(urinary_tract) - GRB7 uc010cwc.3,p.S357C|NM_005310,p.S357C|ENST00000309185,p.S357C|NM_001242443,p.S357C|uc021twu.1,p.S380C|uc002hss.3,p.S357C|ENST00000394204,p.S357C|ENST00000309156,p.S357C|uc002hsr.3,p.S357C|ENST00000394209,p.S357C|uc002hst.3,p.S357C|ENST00000394211,p.S357C|NM_001242442,p.S380C|ENST00000445327,p.S380C|NM_001030002,p.S357C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021twu.1 nonsynonymous SNV exon10 c.C1139G p.S380C NYQQAQSRHLHPSCLGSPPLRSASD NYQQAQSRHLHPCCLGSPPLRSASD 9.0 9.0 CD8 - 4134_17:37901554-37901554 C>G_NYQQAQSRHLHPCCLGSPPLRSASD 2.0 5:37293083-37293083 G>A 1.0 4000 MELANOMA - - - - NUP155 ENST00000231498,p.P1312L|uc010iuz.1,p.P1248L|ENST00000513532,p.P1248L|uc003jku.1,p.P1312L|ENST00000381843,p.P1253L|NM_004298,p.P1253L|NM_001278312,p.P1248L|uc003jkt.1,p.P1253L|NM_153485,p.P1312L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010iuz.1 nonsynonymous SNV exon33 c.C3743T p.P1248L LEVYDQLFKSRDPFWNRMKKPLHLL LEVYDQLFKSRDLFWNRMKKPLHLL 8.0 6.0 - - 4000_5:37293083-37293083 G>A_LEVYDQLFKSRDLFWNRMKKPLHLL 0.0 2:74642502-74642502 G>A 0.0 3466 MELANOMA - - - - C2orf81 ENST00000290390,p.P241S|ENST00000517883,p.P173S|NM_001145054,p.P241S|uc010yrq.1,p.P241S protein_coding uc010yrq.1 nonsynonymous SNV exon4 c.C721T p.P241S LSASFQLSVEEAPADDADPSLDPYL LSASFQLSVEEASADDADPSLDPYL 3.0 6.0 - - 3466_2:74642502-74642502 G>A_LSASFQLSVEEASADDADPSLDPYL 0.0 1:65332583-65332583 C>T 1.0 3919 MELANOMA - - - 1 JAK1 NM_002227,p.G319E|uc001dbu.1,p.G319E|ENST00000342505,p.G319E|uc009wam.1,p.G319E protein_coding, processed_transcript uc009wam.1 nonsynonymous SNV exon8 c.G956A p.G319E GGNVLYYEVMVTGNLGIQWRHKPNV GGNVLYYEVMVTENLGIQWRHKPNV 9.0 5.0 - - 3919_1:65332583-65332583 C>T_GGNVLYYEVMVTENLGIQWRHKPNV 0.0 X:90691124-90691124 C>T 1.0 3784 MELANOMA - - - - PABPC5 uc022bzs.1,p.P183L|ENST00000312600,p.P183L|uc004efg.3,p.P183L|ENST00000373105,p.P19L|NM_080832,p.P183L protein_coding uc022bzs.1 nonsynonymous SNV exon1 c.C548T p.P183L NNRQVYVGRFKFPEERAAEVRTRDR NNRQVYVGRFKFLEERAAEVRTRDR 4.0 10.0 - - 3784_X:90691124-90691124 C>T_NNRQVYVGRFKFLEERAAEVRTRDR 0.0 3:150840754-150840754 ->A 0.0 4298 COLORECTAL - - - - MED12L ENST00000474524,p.A130fs|uc003eyp.3,p.A130fs|ENST00000309237,p.A130fs|NM_053002,p.A130fs|uc003eym.1,p.A130fs|ENST00000422248,p.A130fs|ENST00000273432,p.A130fs|uc003eyo.3,p.A130fs|uc003eyn.3,p.A130fs|uc011bnz.2,p.A130fs protein_coding, processed_transcript uc011bnz.2 frameshift insertion exon3 c.390dupA p.A130fs SDLAGNKPLSILAKKVPILSKKEDV SDLAGNKPLSILAKKGSYP 3.0 9.0 - - 4298_3:150840754-150840754 ->A_SDLAGNKPLSILAKKGSYP 0.0 12:60098668-60098668 C>T 0.0 3919 MELANOMA - - - - SLC16A7 ENST00000548610,p.S29F|ENST00000546459,p.S29F|ENST00000549465,p.S29F|ENST00000261187,p.S29F|ENST00000549305,p.S29F|NM_001270623,p.S29F|NM_001270622,p.S29F|ENST00000547379,p.S29F|ENST00000549928,p.S29F|ENST00000551877,p.S29F|ENST00000552432,p.S29F|uc001sqt.4,p.S29F|ENST00000549033,p.S29F|ENST00000552024,p.S29F|uc001sqs.4,p.S29F|uc001squ.4,p.S29F|ENST00000550062,p.S29F|NM_004731,p.S29F protein_coding, processed_transcript, nonsense_mediated_decay uc001squ.4 nonsynonymous SNV exon2 c.C86T p.S29F GWGWIVVGAAFISIGFSYAFPKAVT GWGWIVVGAAFIFIGFSYAFPKAVT 1.0 10.0 - - 3919_12:60098668-60098668 C>T_GWGWIVVGAAFIFIGFSYAFPKAVT 0.0 17:35297989-35297989 C>A 0.0 4160 COLORECTAL - - - - LHX1 uc010cux.1,p.N68K|uc002hnh.2,p.N160K|ENST00000254457,p.N160K|NM_005568,p.N160K retained_intron, protein_coding, processed_transcript uc010cux.1 nonsynonymous SNV exon3 c.C204A p.N68K PSQDDAKDSESANVSDKEAGSNEND PSQDDAKDSESAKVSDKEAGSNEND 1.0 5.0 - - 4160_17:35297989-35297989 C>A_PSQDDAKDSESAKVSDKEAGSNEND 0.0 3:194181508-194181508 C>G 1.0 4245 COLORECTAL - - - - ATP13A3 ENST00000439040,p.G35A|ENST00000457986,p.G35A|NM_024524,p.G35A|uc003fty.4,p.G35A|ENST00000446356,p.G35A|ENST00000256031,p.G35A retained_intron, protein_coding uc003fty.4 nonsynonymous SNV exon3 c.G104C p.G35A NLSRWKLAIVSLGVICSGGFLLLLL NLSRWKLAIVSLAVICSGGFLLLLL 7.0 4.0 - - 4245_3:194181508-194181508 C>G_NLSRWKLAIVSLAVICSGGFLLLLL 0.0 6:117686839-117686839 C>T 0.0 2591 MELANOMA - - - 1 ROS1 ENST00000368508,p.G960R|NM_002944,p.G960R|ENST00000368507,p.G955R|uc003pxp.1,p.G960R protein_coding uc003pxp.1 nonsynonymous SNV exon19 c.G2878A p.G960R PDSVQESSFRIEGNASSFQILWNGP PDSVQESSFRIERNASSFQILWNGP 1.0 6.0 - - 2591_6:117686839-117686839 C>T_PDSVQESSFRIERNASSFQILWNGP 0.0 X:153578408-153578408 C>T 0.0 4081 COLORECTAL - - - 2 FLNA uc011mzn.1,p.G575S|ENST00000369850,p.G2442S|ENST00000422373,p.G2434S|NM_001456,p.G2434S|NM_001110556,p.G2442S|ENST00000360319,p.G2434S|ENST00000369856,p.G575S|uc004fkk.2,p.G2442S|uc010nuu.1,p.G2434S|ENST00000344736,p.G2402S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011mzn.1 nonsynonymous SNV exon16 c.G1723A p.G575S GLVSAYGAGLEGGVTGNPAEFVVNT GLVSAYGAGLEGSVTGNPAEFVVNT 10.0 6.0 - - 4081_X:153578408-153578408 C>T_GLVSAYGAGLEGSVTGNPAEFVVNT 0.0 11:67925228-67925228 A>G 0.0 2359 MELANOMA - - - - SUV420H1 uc001onn.1,p.V690A|NM_017635,p.V862A|uc009yse.1,p.V448A|uc009ysf.2,p.V622A|NM_001300908,p.V622A|uc001onm.1,p.V862A|ENST00000304363,p.V862A|NM_001300907,p.V690A retained_intron, protein_coding, nonsense_mediated_decay uc009ysf.2 nonsynonymous SNV exon11 c.T1865C p.V622A IPLPPAKRLRLIVGKDSIDIDISSR IPLPPAKRLRLIAGKDSIDIDISSR 8.0 9.0 - - 2359_11:67925228-67925228 A>G_IPLPPAKRLRLIAGKDSIDIDISSR 0.0 3:58849286-58849286 C>T 1.0 3879 MELANOMA - - - - C3orf67 uc003dks.1,p.E221K|uc003dkv.1,p.E221K|ENST00000482387,p.E406K protein_coding, processed_transcript, nonsense_mediated_decay uc003dkv.1 nonsynonymous SNV exon12 c.G661A p.E221K SEDDFYGGDSSEEGNHSIQGSRGPT SEDDFYGGDSSEKGNHSIQGSRGPT 7.0 10.0 - - 3879_3:58849286-58849286 C>T_SEDDFYGGDSSEKGNHSIQGSRGPT 0.0 19:14046591-14046591 G>C 0.0 4316 COLORECTAL - - - - PODNL1 ENST00000254320,p.A71G|uc010xnj.2,p.A151G|uc002mxr.3,p.A153G|NM_001146254,p.A151G|uc010xni.2,p.A71G|NM_024825,p.A153G|ENST00000339560,p.A153G|ENST00000538371,p.A151G protein_coding, processed_transcript uc010xnj.2 nonsynonymous SNV exon5 c.C452G p.A151G QFLPRSLRVADLAANQVMEIFPLTF QFLPRSLRVADLGANQVMEIFPLTF 4.0 5.0 - - 4316_19:14046591-14046591 G>C_QFLPRSLRVADLGANQVMEIFPLTF 0.0 7:150932667-150932667 C>T 1.0 3775 CERVICAL - - - - CHPF2 NM_019015,p.S266F|ENST00000465601,p.S44F|ENST00000035307,p.S266F|uc003wjr.1,p.S266F|uc003wjq.1,p.S258F|ENST00000495645,p.S258F|NM_001284295,p.S258F protein_coding, nonsense_mediated_decay uc003wjr.1 nonsynonymous SNV exon2 c.C797T p.S266F RPDEWLGRCLIDSLGVGCVSQHQGQ RPDEWLGRCLIDFLGVGCVSQHQGQ 8.0 8.0 - - 3775_7:150932667-150932667 C>T_RPDEWLGRCLIDFLGVGCVSQHQGQ 0.0 8:10387179-10387179 C>T 0.0 4081 COLORECTAL - - - - PRSS55 NM_001197020,p.A106V|NM_198464,p.A106V|uc003wta.3,p.A106V|ENST00000328655,p.A106V|uc022art.1,p.A106V|ENST00000522210,p.A106V protein_coding, nonsense_mediated_decay uc022art.1 nonsynonymous SNV exon2 c.C317T p.A106V GGSILNKWWILTAAHCLYSEELFPE GGSILNKWWILTVAHCLYSEELFPE 1.0 7.0 - - 4081_8:10387179-10387179 C>T_GGSILNKWWILTVAHCLYSEELFPE 0.0 1:11217312-11217312 A>C 1.0 4081 COLORECTAL - - - 1 MTOR NM_004958,p.W1456G|uc001asd.3,p.W1456G|ENST00000361445,p.W1456G protein_coding, processed_transcript uc001asd.3 nonsynonymous SNV exon30 c.T4366G p.W1456G EIQATWYEKLHEWEDALVAYDKKMD EIQATWYEKLHEGEDALVAYDKKMD 6.0 7.0 - - 4081_1:11217312-11217312 A>C_EIQATWYEKLHEGEDALVAYDKKMD 0.0 X:3239947-3239947 G>A 0.0 3903 MELANOMA - - - - MXRA5 uc004crg.4,p.S1260F|ENST00000217939,p.S1260F|NM_015419,p.S1260F protein_coding uc004crg.4 nonsynonymous SNV exon5 c.C3779T p.S1260F VSSRASGSKPSPSPENKHRNIVTPS VSSRASGSKPSPFPENKHRNIVTPS 5.0 10.0 - - 3903_X:3239947-3239947 G>A_VSSRASGSKPSPFPENKHRNIVTPS 0.0 17:7126027-7126027 C>G 1.0 2591 MELANOMA - - - - ACADVL NM_001270448,p.T231R|ENST00000350303,p.T285R|NM_001270447,p.T330R|ENST00000356839,p.T307R|uc002gex.4,p.T231R|uc010vtp.3,p.T330R|NM_001033859,p.T285R|uc002gev.4,p.T307R|ENST00000543245,p.T330R|NM_000018,p.T307R|uc002gew.4,p.T285R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vtp.3 nonsynonymous SNV exon11 c.C989G p.T330R PPEKKMGIKASNTAEVFFDGVRVPS PPEKKMGIKASNRAEVFFDGVRVPS 10.0 4.0 - - 2591_17:7126027-7126027 C>G_PPEKKMGIKASNRAEVFFDGVRVPS 0.0 14:95670665-95670665 C>T 1.0 3713 MELANOMA - - - - CLMN uc001yef.2,p.E341K|ENST00000298912,p.E341K|NM_024734,p.E341K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001yef.2 nonsynonymous SNV exon9 c.G1021A p.E341K TENGERTYTVNHETSHPPPSKVFVC TENGERTYTVNHKTSHPPPSKVFVC 7.0 3.0 - - 3713_14:95670665-95670665 C>T_TENGERTYTVNHKTSHPPPSKVFVC 0.0 19:55253513-55253513 T>G 0.0 4196 COLORECTAL - - - - KIR2DL3 ENST00000342376,p.V53G|uc002qgx.3,p.V53G|NM_015868,p.V53G|uc010erw.1,p.V53G|ENST00000434419,p.V53G protein_coding uc010erw.1 nonsynonymous SNV exon3 c.T158G p.V53G SEETVILQCWSDVRFQHFLLHREGK SEETVILQCWSDGRFQHFLLHREGK 4.0 3.0 - - 4196_19:55253513-55253513 T>G_SEETVILQCWSDGRFQHFLLHREGK 0.0 1:27876613-27876613 C>T 1.0 4287 COLORECTAL - - - - AHDC1 uc021ojw.1,p.A672T|uc009vsy.3,p.A672T|ENST00000374011,p.A672T|uc009vsz.1,p.A672T|NM_001029882,p.A672T|ENST00000247087,p.A672T protein_coding, processed_transcript uc021ojw.1 nonsynonymous SNV exon1 c.G2014A p.A672T HRVQGFRRRGGKAGGFGGRGGGHAA HRVQGFRRRGGKTGGFGGRGGGHAA 4.0 9.0 - - 4287_1:27876613-27876613 C>T_HRVQGFRRRGGKTGGFGGRGGGHAA 0.0 9:140400484-140400484 C>T 1.0 3716 MELANOMA - - - - PNPLA7 NM_001098537,p.R426K|uc004cnf.2,p.R401K|uc010ncj.1,p.R426K|ENST00000434090,p.R392K|ENST00000406427,p.R426K|NM_152286,p.R401K|ENST00000277531,p.R401K protein_coding, processed_transcript, nonsense_mediated_decay uc010ncj.1 nonsynonymous SNV exon13 c.G1277A p.R426K ATSDLGMACDRARVFLHSDEHPGSS ATSDLGMACDRAKVFLHSDEHPGSS 3.0 8.0 - - 3716_9:140400484-140400484 C>T_ATSDLGMACDRAKVFLHSDEHPGSS 0.0 2:88890104-88890104 G>T 1.0 4320 COLORECTAL - - - - EIF2AK3 uc002stc.4,p.S341Y|ENST00000419748,p.S190Y|ENST00000415570,p.S220Y|ENST00000303236,p.S341Y|NM_004836,p.S341Y retained_intron, protein_coding, processed_transcript uc002stc.4 nonsynonymous SNV exon6 c.C1022A p.S341Y LEWEYQFCTPIASAWLLKDGKVIPI LEWEYQFCTPIAYAWLLKDGKVIPI 9.0 7.0 - - 4320_2:88890104-88890104 G>T_LEWEYQFCTPIAYAWLLKDGKVIPI 0.0 1:152080712-152080712 G>C 0.0 4335 COLORECTAL - - - - TCHH uc009wne.1,p.L1661V|ENST00000368804,p.L1661V|NM_007113,p.L1661V|uc001ezp.3,p.L1661V protein_coding uc009wne.1 nonsynonymous SNV exon3 c.C4981G p.L1661V EPQLRRQEREQQLRHDRDRKFREEE EPQLRRQEREQQVRHDRDRKFREEE 5.0 3.0 - - 4335_1:152080712-152080712 G>C_EPQLRRQEREQQVRHDRDRKFREEE 0.0 1:52859265-52859265 G>A 1.0 3919 MELANOMA - - - - ORC1 uc001ctu.3,p.S311L|uc001ctt.3,p.S311L|NM_001190818,p.S311L|NM_001190819,p.S311L|ENST00000371568,p.S311L|ENST00000371566,p.S311L|uc010oni.2,p.S311L|NM_004153,p.S311L protein_coding, processed_transcript uc010oni.2 nonsynonymous SNV exon6 c.C932T p.S311L TGLSYTEDDKKASPEHRIILRTRIA TGLSYTEDDKKALPEHRIILRTRIA 3.0 10.0 - - 3919_1:52859265-52859265 G>A_TGLSYTEDDKKALPEHRIILRTRIA 0.0 12:53606949-53606949 ->GG 1.0 4326 BREAST - - - - RARG ENST00000425354,p.R366fs|uc001scg.3,p.R294fs|uc001scd.3,p.R355fs|ENST00000327550,p.R294fs|NM_001243731,p.R245fs|uc001sce.3,p.R366fs|NM_000966,p.R366fs|uc001scf.3,p.R366fs|uc010soc.2,p.R245fs|ENST00000543726,p.R344fs|uc010sob.2,p.R344fs|ENST00000394426,p.R366fs|NM_001243732,p.R344fs|NM_001243730,p.R294fs|ENST00000338561,p.R355fs|NM_001042728,p.R355fs retained_intron, protein_coding, processed_transcript uc010soc.2 frameshift insertion exon7 c.733_734insCC p.R245fs QEPLLEALRLYARRRRPSQPYMFPR QEPLLEALRLYAPGAGGPASPTCSQGC 6.0 6.0 - - 4326_12:53606949-53606949 ->GG_QEPLLEALRLYAPGAGGPASPTCSQGC 0.0 X:17065475-17065475 T>A 1.0 4245 COLORECTAL - - - - REPS2 uc011miw.1,p.F118L|uc004cxw.1,p.F258L|ENST00000380064,p.F119L|NM_001080975,p.F258L|ENST00000303843,p.F258L|ENST00000357277,p.F259L|NM_004726,p.F259L|uc004cxv.1,p.F259L retained_intron, protein_coding, processed_transcript uc011miw.1 nonsynonymous SNV exon6 c.T354A p.F118L KPLRHQASLIRSFSVERELQDNSSY KPLRHQASLIRSLSVERELQDNSSY 8.0 3.0 - - 4245_X:17065475-17065475 T>A_KPLRHQASLIRSLSVERELQDNSSY 0.0 20:34136585-34136585 C>T 1.0 3795 MELANOMA - - - - ERGIC3 uc002xct.3,p.P218S|ENST00000348547,p.P218S|uc010zvg.2,p.P218S|NM_015966,p.P218S|uc002xcs.3,p.P218S|NM_198398,p.P218S|ENST00000357394,p.P218S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010zvg.2 nonsynonymous SNV exon7 c.C652T p.P218S EVNKVAGNFHFAPGKSFQQSHVHVH EVNKVAGNFHFASGKSFQQSHVHVH 10.0 6.0 - - 3795_20:34136585-34136585 C>T_EVNKVAGNFHFASGKSFQQSHVHVH 0.0 19:45853668-45853668 G>A 1.0 3713 MELANOMA - - - - KLC3 uc002pbg.1,p.E419K|ENST00000470402,p.E419K|ENST00000391946,p.E405K|uc010ejy.1,p.E404K|NM_177417,p.E405K|ENST00000585434,p.E404K|uc002pbf.1,p.E405K retained_intron, protein_coding uc010ejy.1 nonsynonymous SNV exon9 c.G1210A p.E404K QAEELYKEILHKEDLPAPLGAPNTG QAEELYKEILHKKDLPAPLGAPNTG 1.0 10.0 - - 3713_19:45853668-45853668 G>A_QAEELYKEILHKKDLPAPLGAPNTG 0.0 17:20483213-20483213 G>A 0.0 4158 COLORECTAL - - - - CDRT15L2 uc021tsn.1,p.G53R|ENST00000399044,p.G53R|NM_001190790,p.G53R protein_coding uc021tsn.1 nonsynonymous SNV exon1 c.G157A p.G53R VRRRTQVPQDSPGQALAGQATPEIP VRRRTQVPQDSPRQALAGQATPEIP 1.0 10.0 - - 4158_17:20483213-20483213 G>A_VRRRTQVPQDSPRQALAGQATPEIP 0.0 5:36985923-36985923 C>T 1.0 3466 MELANOMA - - - - NIPBL ENST00000282516,p.P881S|uc003jkm.1,p.P760S|NM_015384,p.P881S|ENST00000448238,p.P881S|uc003jkl.4,p.P881S|uc003jkk.4,p.P881S|NM_133433,p.P881S retained_intron, protein_coding, processed_transcript uc003jkm.1 nonsynonymous SNV exon6 c.C2278T p.P760S KHRHESGDSRERPSSGEQKSRPDSP KHRHESGDSRERSSSGEQKSRPDSP 10.0 6.0 - - 3466_5:36985923-36985923 C>T_KHRHESGDSRERSSSGEQKSRPDSP 0.0 2:220353321-220353321 C>G 0.0 4186 BREAST - - - - SPEG uc010fwg.3,p.L2654V|NM_005876,p.L2654V|ENST00000312358,p.L2654V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010fwg.3 nonsynonymous SNV exon33 c.C7960G p.L2654V LSIPRAGKRHAGLYECSATNVLGSI LSIPRAGKRHAGVYECSATNVLGSI 7.0 7.0 - - 4186_2:220353321-220353321 C>G_LSIPRAGKRHAGVYECSATNVLGSI 0.0 1:200956224-200956224 C>T 0.0 4078 GASTRIC - - - - KIF21B uc009wzl.2,p.V1172I|ENST00000360529,p.V1172I|uc001gvr.2,p.V1172I|NM_001252102,p.V1172I|ENST00000461742,p.V1172I|NM_017596,p.V1172I|uc001gvs.2,p.V1172I|NM_001252103,p.V1172I|ENST00000422435,p.V1172I|ENST00000332129,p.V1172I|NM_001252100,p.V1172I|uc010ppn.2,p.V1172I retained_intron, protein_coding, nonsense_mediated_decay uc010ppn.2 nonsynonymous SNV exon25 c.G3514A p.V1172I STKNITKSLASLVEIKEDGVGFSVR STKNITKSLASLIEIKEDGVGFSVR 4.0 7.0 - - 4078_1:200956224-200956224 C>T_STKNITKSLASLIEIKEDGVGFSVR 0.0 2:196673509-196673509 G>A 0.0 3903 MELANOMA - - - - DNAH7 uc002utj.4,p.S3327F|ENST00000312428,p.S3327F|NM_018897,p.S3327F retained_intron, protein_coding, processed_transcript uc002utj.4 nonsynonymous SNV exon53 c.C9980T p.S3327F PYANLCTWLPQKSWDEICRLDDLPA PYANLCTWLPQKFWDEICRLDDLPA 3.0 3.0 - - 3903_2:196673509-196673509 G>A_PYANLCTWLPQKFWDEICRLDDLPA 0.0 2:100209920-100209920 C>T 0.0 4245 COLORECTAL - - - 1 AFF3 uc010yvr.1,p.A888T|uc010fiq.1,p.A735T|NM_002285,p.A735T|NM_001025108,p.A760T|ENST00000356421,p.A760T|ENST00000409236,p.A735T|uc002taf.3,p.A760T|uc002tah.1,p.A760T|ENST00000409579,p.A760T|ENST00000317233,p.A735T|uc002tag.3,p.A735T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010yvr.1 nonsynonymous SNV exon15 c.G2662A p.A888T VGSINARTTSDIAKELEEQFYTLVP VGSINARTTSDITKELEEQFYTLVP 4.0 9.0 - - 4245_2:100209920-100209920 C>T_VGSINARTTSDITKELEEQFYTLVP 0.0 4:152570664-152570664 G>A 0.0 2556 MELANOMA - - - - FAM160A1 uc003imj.2,p.E491K|ENST00000435205,p.E491K|NM_001109977,p.E491K|ENST00000505231,p.E491K protein_coding, processed_transcript uc003imj.2 nonsynonymous SNV exon11 c.G1471A p.E491K FPEAFSESACIVEYGKALDISYLQY FPEAFSESACIVKYGKALDISYLQY 4.0 9.0 - - 2556_4:152570664-152570664 G>A_FPEAFSESACIVKYGKALDISYLQY 0.0 7:12728105-12728105 G>T 0.0 4235 COLORECTAL - - - - ARL4A ENST00000396663,p.V76L|uc003ssq.3,p.V76L|ENST00000396664,p.V76L|ENST00000396662,p.V76L|uc003ssp.3,p.V76L|NM_005738,p.V76L|uc021zzr.1,p.V76L|uc003sss.3,p.V76L|NM_001037164,p.V76L|uc021zzq.1,p.V76L|NM_212460,p.V76L|NM_001195396,p.V76L|ENST00000404894,p.V76L|ENST00000356797,p.V76L protein_coding uc021zzr.1 nonsynonymous SNV exon1 c.G226T p.V76L GNSKTVTFHFWDVGGQEKLRPLWKS GNSKTVTFHFWDLGGQEKLRPLWKS 8.0 7.0 - - 4235_7:12728105-12728105 G>T_GNSKTVTFHFWDLGGQEKLRPLWKS 0.0 7:97867888-97867888 G>A 1.0 3713 MELANOMA - - - - TECPR1 ENST00000542604,p.P253L|NM_015395,p.P323L|ENST00000447648,p.P323L|ENST00000379795,p.P323L|uc003upg.4,p.P323L|uc003uph.2,p.P253L retained_intron, protein_coding, processed_transcript uc003uph.2 nonsynonymous SNV exon8 c.C758T p.P253L KVWFRRGVNSHNPCGTSWIEMVGEM KVWFRRGVNSHNLCGTSWIEMVGEM 6.0 6.0 - - 3713_7:97867888-97867888 G>A_KVWFRRGVNSHNLCGTSWIEMVGEM 0.0 22:37533772-37533772 C>T 0.0 3903 MELANOMA - - ID=COSM240225;OCCURENCE=1(prostate) - IL2RB NM_000878,p.R131H|ENST00000429622,p.R131H|uc003aqv.1,p.R131H|ENST00000453962,p.R131H|ENST00000216223,p.R131H retained_intron, protein_coding, nonsense_mediated_decay uc003aqv.1 nonsynonymous SNV exon6 c.G392A p.R131H MAIQDFKPFENLRLMAPISLQVVHV MAIQDFKPFENLHLMAPISLQVVHV 9.0 2.0 - - 3903_22:37533772-37533772 C>T_MAIQDFKPFENLHLMAPISLQVVHV 0.0 11:1955817-1955819 GAA>- 0.0 4186 BREAST - - - - TNNT3 ENST00000381561,p.177_178del|ENST00000381589,p.172_173del|ENST00000381548,p.176_177del|ENST00000381549,p.166_167del|uc001luo.4,p.166_167del|NM_001042781,p.172_173del|NM_001297646,p.166_167del|uc001luw.4,p.166_167del|ENST00000397301,p.185_186del|ENST00000446240,p.155_156del|uc010qxf.2,p.172_173del|ENST00000453458,p.155_156del|ENST00000344578,p.161_162del|NM_001042782,p.166_167del|ENST00000381579,p.166_167del|NM_001042780,p.166_167del|uc001luu.4,p.174_175del|NM_006757,p.174_175del|uc010qxg.2,p.106_107del|ENST00000397304,p.155_156del|uc001lur.3,p.166_167del|ENST00000381558,p.166_167del|ENST00000381563,p.177_178del|uc001lun.2,p.70_71del|uc001luq.4,p.166_167del|ENST00000278317,p.174_175del|ENST00000360603,p.168_169del|uc001lup.4,p.172_173del|ENST00000381557,p.160_161del protein_coding, processed_transcript uc010qxg.2 nonframeshift deletion exon8 c.318_320del p.106_107del DQKRGKKQTAREMKKKILAERRKPL DQKRGKKQTAREMKKILAERRKPLN 4.0 10.0 - - 4186_11:1955817-1955819 GAA>-_DQKRGKKQTAREMKKILAERRKPLN 0.0 10:73767160-73767160 C>T 0.0 4213 COLORECTAL - - - - CHST3 uc001jsn.3,p.P124L|NM_004273,p.P124L|ENST00000373115,p.P124L protein_coding uc001jsn.3 nonsynonymous SNV exon3 c.C371T p.P124L EEEEEQRKEEEPPRPAVAGPRRHVL EEEEEQRKEEEPLRPAVAGPRRHVL 6.0 6.0 - - 4213_10:73767160-73767160 C>T_EEEEEQRKEEEPLRPAVAGPRRHVL 0.0 9:134350745-134350745 C>T 1.0 3879 MELANOMA - - - - PRRC2B NM_013318,p.R1077C|ENST00000357304,p.R1077C|uc004cao.4,p.R435C|uc004can.4,p.R1077C|uc010mzj.1,p.R660C protein_coding, processed_transcript uc010mzj.1 nonsynonymous SNV exon8 c.C1978T p.R660C RGRGRGFREFTFRGRPAGGNGSGLC RGRGRGFREFTFCGRPAGGNGSGLC 9.0 10.0 - - 3879_9:134350745-134350745 C>T_RGRGRGFREFTFCGRPAGGNGSGLC 0.0 16:30536442-30536442 G>T 1.0 4078 GASTRIC - - - - ZNF768 uc010vew.2,p.S309Y|ENST00000562803,p.S309Y|ENST00000380412,p.S340Y|NM_024671,p.S340Y|uc010vex.2,p.S309Y|uc002dyk.4,p.S340Y protein_coding uc010vex.2 nonsynonymous SNV exon4 c.C926A p.S309Y DSSYLLRHQRTHSGQKPYKCPHCGK DSSYLLRHQRTHYGQKPYKCPHCGK 9.0 1.0 - - 4078_16:30536442-30536442 G>T_DSSYLLRHQRTHYGQKPYKCPHCGK 0.0 17:37342761-37342761 G>A 1.0 2556 MELANOMA - - - - CACNB1 NM_000723,p.P206S|NM_199248,p.P206S|uc002hrn.3,p.P206S|ENST00000394303,p.P206S|uc002hrm.2,p.P206S|ENST00000394310,p.P206S retained_intron, protein_coding, processed_transcript uc002hrn.3 nonsynonymous SNV exon6 c.C616T p.P206S LGDVVTGTRRPTPPASAKQKQKSTE LGDVVTGTRRPTSPASAKQKQKSTE 5.0 5.0 - - 2556_17:37342761-37342761 G>A_LGDVVTGTRRPTSPASAKQKQKSTE 0.0 2:15696907-15696907 C>A 0.0 4234 NSCLC - - - - NBAS uc002rcc.2,p.S70I|ENST00000441750,p.S70I|NM_015909,p.S70I|ENST00000281513,p.S70I retained_intron, protein_coding, nonsense_mediated_decay uc002rcc.2 nonsynonymous SNV exon3 c.G209T p.S70I DRLLFLRQYIWYSPAPFLLPDGLVR DRLLFLRQYIWYIPAPFLLPDGLVR 8.0 4.0 CD8 - 4234_2:15696907-15696907 C>A_DRLLFLRQYIWYIPAPFLLPDGLVR 2.0 8:27145570-27145570 G>A 1.0 3466 MELANOMA - - - - TRIM35 uc003xfl.1,p.H327Y|ENST00000305364,p.H327Y|NM_171982,p.H327Y retained_intron, protein_coding uc003xfl.1 nonsynonymous SNV exon6 c.C979T p.H327Y LSVSDDLTSVTNHGYRVQVENPERF LSVSDDLTSVTNYGYRVQVENPERF 8.0 8.0 - - 3466_8:27145570-27145570 G>A_LSVSDDLTSVTNYGYRVQVENPERF 0.0 10:101136922-101136922 C>T 1.0 3879 MELANOMA - - - - CNNM1 uc001kpp.4,p.L763F|uc010qpi.2,p.L784F|ENST00000446890,p.L692F|ENST00000370534,p.L419F|uc009xwf.3,p.L763F|NM_020348,p.L763F|ENST00000356713,p.L763F|ENST00000370528,p.L692F|uc031pwy.1,p.L163F|uc009xwg.3,p.L163F protein_coding, processed_transcript uc031pwy.1 nonsynonymous SNV exon6 c.C487T p.L163F GSNTQLYSSSNNLYMPDYSVHILSD GSNTQLYSSSNNFYMPDYSVHILSD 6.0 3.0 - - 3879_10:101136922-101136922 C>T_GSNTQLYSSSNNFYMPDYSVHILSD 0.0 15:89010494-89010494 A>G 1.0 4180 BREAST - - - - MRPL46 ENST00000312475,p.S39P|NM_022163,p.S39P|uc002bmj.2,p.S39P|ENST00000560703,p.S39P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002bmj.2 nonsynonymous SNV exon1 c.T115C p.S39P LSSRSLALAAAPSSNGSPWRLLGAL LSSRSLALAAAPPSNGSPWRLLGAL 9.0 10.0 - - 4180_15:89010494-89010494 A>G_LSSRSLALAAAPPSNGSPWRLLGAL 0.0 1:115168538-115168538 T>G 0.0 4284 COLORECTAL - - - - DENND2C uc001efc.1,p.Q23P|NM_198459,p.Q23P|ENST00000393274,p.Q23P|ENST00000393276,p.Q23P|ENST00000393277,p.Q23P|uc001efd.1,p.Q23P|NM_001256404,p.Q23P protein_coding, processed_transcript uc001efd.1 nonsynonymous SNV exon4 c.A68C p.Q23P QTLSRSHCKNIKQKISQWEGRANGI QTLSRSHCKNIKPKISQWEGRANGI 4.0 7.0 - - 4284_1:115168538-115168538 T>G_QTLSRSHCKNIKPKISQWEGRANGI 0.0 7:92761672-92761672 G>A 0.0 2359 MELANOMA - - - - SAMD9L ENST00000437805,p.L1205F|ENST00000318238,p.L1205F|uc003umj.1,p.L1205F|uc003umk.1,p.L1205F|ENST00000411955,p.L1205F|uc022ahh.1,p.L1205F|NM_152703,p.L1205F|uc010lfb.1,p.L1205F|uc010lfc.1,p.L1205F|uc003umh.1,p.L1205F|uc010lfd.1,p.L1205F|uc003umi.1,p.L1205F protein_coding, processed_transcript uc022ahh.1 nonsynonymous SNV exon1 c.C3613T p.L1205F NTACFLGEIEVGLYTIQILQLTPFF NTACFLGEIEVGFYTIQILQLTPFF 5.0 7.0 - - 2359_7:92761672-92761672 G>A_NTACFLGEIEVGFYTIQILQLTPFF 0.0 17:12860030-12860030 A>G 0.0 4234 NSCLC - - ID=COSM704976;OCCURENCE=1(lung) - ARHGAP44 uc002gnt.1,p.I160V|uc010vvl.2,p.I437V|uc002gnr.4,p.I437V|uc010vvk.2,p.I437V|NM_014859,p.I437V|ENST00000379672,p.I437V|uc010vvm.2,p.I437V|ENST00000583608,p.I41V|ENST00000544416,p.I437V|ENST00000340825,p.I437V|ENST00000262444,p.I437V|uc002gns.4,p.I237V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, lincRNA uc010vvm.2 nonsynonymous SNV exon15 c.A1309G p.I437V TVSLQIVGIIEPIIQHADWFFPGEI TVSLQIVGIIEPVIQHADWFFPGEI 4.0 9.0 - - 4234_17:12860030-12860030 A>G_TVSLQIVGIIEPVIQHADWFFPGEI 0.0 1:46977907-46977907 C>T 0.0 4238 COLORECTAL 0.0027 - - - DMBX1 uc001cpx.3,p.A297V|uc001cpw.3,p.A292V|NM_172225,p.A292V|ENST00000360032,p.A292V|ENST00000371956,p.A297V|NM_147192,p.A297V protein_coding uc001cpx.3 nonsynonymous SNV exon4 c.C890T p.A297V SFEVGGPAPAAAAAAAAVPYLGVNM SFEVGGPAPAAAVAAAAVPYLGVNM 1.0 10.0 - - 4238_1:46977907-46977907 C>T_SFEVGGPAPAAAVAAAAVPYLGVNM 0.0 8:126443244-126443244 C>A 0.0 4235 COLORECTAL - - - - TRIB1 ENST00000311922,p.L34M|NM_025195,p.L34M|uc003yrx.3,p.L34M protein_coding, processed_transcript uc003yrx.3 nonsynonymous SNV exon1 c.C100A p.L34M LFPATRGVPAKRLLDADDAAAVAAK LFPATRGVPAKRMLDADDAAAVAAK 9.0 2.0 - - 4235_8:126443244-126443244 C>A_LFPATRGVPAKRMLDADDAAAVAAK 0.0 X:26157208-26157208 G>C 0.0 3775 CERVICAL - - ID=COSM3965072;OCCURENCE=1(lung) - MAGEB18 uc004dbq.2,p.E36Q|NM_173699,p.E36Q protein_coding uc004dbq.2 nonsynonymous SNV exon2 c.G106C p.E36Q DLGATQATVAEGESPSSAYLLFGDR DLGATQATVAEGQSPSSAYLLFGDR 1.0 7.0 - - 3775_X:26157208-26157208 G>C_DLGATQATVAEGQSPSSAYLLFGDR 0.0 1:47278173-47278173 G>A 0.0 4301 MELANOMA - - - - CYP4B1 ENST00000371919,p.G110S|uc009vym.3,p.G110S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009vym.3 nonsynonymous SNV exon3 c.G328A p.G110S DYAKAVYSRGGRGLLVLEGPKWLQH DYAKAVYSRGGRSLLVLEGPKWLQH 5.0 3.0 - - 4301_1:47278173-47278173 G>A_DYAKAVYSRGGRSLLVLEGPKWLQH 0.0 7:126173490-126173490 G>A 0.0 2591 MELANOMA - - ID=COSM141888;OCCURENCE=1(skin) - GRM8 NM_000845,p.S649F|ENST00000444921,p.S649F|uc003vlt.2,p.S649F|ENST00000339582,p.S649F|ENST00000472701,p.S649F|ENST00000358373,p.S649F|NM_001127323,p.S649F|uc003vlr.2,p.S649F protein_coding, processed_transcript, nonsense_mediated_decay uc003vlt.2 nonsynonymous SNV exon9 c.C1946T p.S649F FLMIAAPDTIICSFRRVFLGLGMCF FLMIAAPDTIICFFRRVFLGLGMCF 1.0 10.0 - - 2591_7:126173490-126173490 G>A_FLMIAAPDTIICFFRRVFLGLGMCF 0.0 6:17799576-17799576 G>A 1.0 3713 MELANOMA - - - - KIF13A ENST00000378843,p.A904V|ENST00000378826,p.A904V|NM_001105568,p.A904V|ENST00000378816,p.A904V|ENST00000378814,p.A904V|ENST00000259711,p.A904V|NM_001105566,p.A904V|NM_001105567,p.A904V|uc003nci.4,p.A904V|uc003nch.4,p.A904V|uc003ncg.4,p.A904V|uc003ncf.3,p.A904V|NM_022113,p.A904V retained_intron, protein_coding, processed_transcript uc003nci.4 nonsynonymous SNV exon22 c.C2711T p.A904V QYTFWDQCESTVAAPVVDPEVPSPQ QYTFWDQCESTVVAPVVDPEVPSPQ 8.0 2.0 - - 3713_6:17799576-17799576 G>A_QYTFWDQCESTVVAPVVDPEVPSPQ 0.0 2:97373457-97373457 G>A 1.0 4189 MELANOMA - - - - LMAN2L ENST00000534882,p.P155S|ENST00000426463,p.P166S|uc010yuv.2,p.P153S|NM_001142292,p.P311S|uc010yut.2,p.P166S|uc010yux.2,p.P155S|uc002swv.3,p.P311S|ENST00000377079,p.P311S|uc002swu.3,p.P300S|uc010yuw.2,p.P155S|NM_030805,p.P300S|ENST00000264963,p.P300S|ENST00000537039,p.P162S|uc010yuu.2,p.P164S retained_intron, protein_coding, nonsense_mediated_decay uc010yux.2 nonsynonymous SNV exon6 c.C463T p.P155S DVFLPSVDNMKLPEMTAPLPPLSGL DVFLPSVDNMKLSEMTAPLPPLSGL 6.0 3.0 - - 4189_2:97373457-97373457 G>A_DVFLPSVDNMKLSEMTAPLPPLSGL 0.0 22:36688247-36688247 C>T 1.0 4245 COLORECTAL - - - 1 MYH9 ENST00000216181,p.V1377M|NM_002473,p.V1377M|uc003apg.3,p.V1377M retained_intron, protein_coding, processed_transcript uc003apg.3 nonsynonymous SNV exon31 c.G4129A p.V1377M QVADMKKKMEDSVGCLETAEEVKRK QVADMKKKMEDSMGCLETAEEVKRK 10.0 3.0 - - 4245_22:36688247-36688247 C>T_QVADMKKKMEDSMGCLETAEEVKRK 0.0 2:189870947-189870947 G>T 0.0 4335 COLORECTAL - - - 2 COL3A1 NM_000090,p.D1019Y|ENST00000304636,p.D1019Y|uc002uqj.1,p.D1019Y retained_intron, protein_coding uc002uqj.1 nonsynonymous SNV exon42 c.G3055T p.D1019Y AGEPGRDGNPGSDGLPGRDGSPGGK AGEPGRDGNPGSYGLPGRDGSPGGK 10.0 8.0 - - 4335_2:189870947-189870947 G>T_AGEPGRDGNPGSYGLPGRDGSPGGK 0.0 1:9109243-9109243 G>A 0.0 3466 MELANOMA - - - - SLC2A5 uc010nzy.2,p.S11F|ENST00000536305,p.S11F retained_intron, protein_coding, processed_transcript uc010nzy.2 nonsynonymous SNV exon1 c.C32T p.S11F MLELHSLTASSIMRVLIMRAPLR MLELHSLTASFIMRVLIMRAPLR 8.0 8.0 - - 3466_1:9109243-9109243 G>A_MLELHSLTASFIMRVLIMRAPLR 0.0 4:177052719-177052719 C>T 1.0 4284 COLORECTAL - - - - WDR17 NM_181265,p.P310S|uc003iuj.3,p.P334S|ENST00000508596,p.P310S|uc003ium.4,p.P310S|ENST00000280190,p.P334S|ENST00000507824,p.P317S|ENST00000393643,p.P310S|NM_170710,p.P334S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003ium.4 nonsynonymous SNV exon7 c.C928T p.P310S NSPPRKKFSVQSPTKNHYTSSTSEA NSPPRKKFSVQSSTKNHYTSSTSEA 6.0 6.0 - - 4284_4:177052719-177052719 C>T_NSPPRKKFSVQSSTKNHYTSSTSEA 0.0 10:98311035-98311035 A>G 1.0 4287 COLORECTAL - - - - TM9SF3 uc001kmm.4,p.I309T|NM_020123,p.I309T|ENST00000371142,p.I309T protein_coding, processed_transcript uc001kmm.4 nonsynonymous SNV exon7 c.T926C p.I309T SGCQIFAVSLIVIIVAMIEDLYTER SGCQIFAVSLIVTIVAMIEDLYTER 10.0 3.0 - - 4287_10:98311035-98311035 A>G_SGCQIFAVSLIVTIVAMIEDLYTER 0.0 1:84878212-84878212 C>T 0.0 4298 COLORECTAL - - - - DNASE2B NM_058248,p.S35L|ENST00000370662,p.S35L|uc001dju.1,p.S35L|uc009wch.1,p.S35L|ENST00000370665,p.S243L|uc001djt.1,p.S243L|NM_021233,p.S243L protein_coding uc009wch.1 nonsynonymous SNV exon3 c.C104T p.S35L SAQGQKFLHFAKSDSFLDDIFAAWM SAQGQKFLHFAKLDSFLDDIFAAWM 3.0 1.0 - - 4298_1:84878212-84878212 C>T_SAQGQKFLHFAKLDSFLDDIFAAWM 0.0 5:23527239-23527239 C>G 0.0 4246 COLORECTAL - - - - PRDM9 ENST00000296682,p.T681S|NM_020227,p.T681S|uc003jgo.3,p.T681S protein_coding uc003jgo.3 nonsynonymous SNV exon11 c.C2042G p.T681S CGRGFSWQSVLLTHQRTHTGEKPYV CGRGFSWQSVLLSHQRTHTGEKPYV 2.0 10.0 - - 4246_5:23527239-23527239 C>G_CGRGFSWQSVLLSHQRTHTGEKPYV 0.0 11:4936551-4936551 G>A 0.0 3903 MELANOMA - - - - OR51G2 NM_001005238,p.L115F|ENST00000322013,p.L115F|uc001lzr.1,p.L115F protein_coding uc001lzr.1 nonsynonymous SNV exon1 c.C343T p.L115F FAQLFFIHCFSFLESSVLLSMAFDR FAQLFFIHCFSFFESSVLLSMAFDR 1.0 4.0 - - 3903_11:4936551-4936551 G>A_FAQLFFIHCFSFFESSVLLSMAFDR 0.0 2:210681738-210681738 G>C 1.0 4326 BREAST - - - - UNC80 NM_182587,p.D481H|ENST00000272845,p.D481H|NM_032504,p.D481H|uc021vvx.1,p.D481H|ENST00000439458,p.D481H|uc010zjc.1,p.D481H retained_intron, protein_coding, processed_transcript uc021vvx.1 nonsynonymous SNV exon10 c.G1441C p.D481H PRRMGVPFLLHEDHLDVSPTRSTFS PRRMGVPFLLHEHHLDVSPTRSTFS 3.0 9.0 - - 4326_2:210681738-210681738 G>C_PRRMGVPFLLHEHHLDVSPTRSTFS 0.0 11:17531037-17531037 C>T 0.0 4335 COLORECTAL - - - - USH1C ENST00000005226,p.E627K|NM_153676,p.E627K|uc001mne.3,p.E627K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC uc001mne.3 nonsynonymous SNV exon18 c.G1879A p.E627K DLTPTRPLPSALEEALSNHPFRTGD DLTPTRPLPSALKEALSNHPFRTGD 8.0 6.0 - - 4335_11:17531037-17531037 C>T_DLTPTRPLPSALKEALSNHPFRTGD 0.0 5:41158793-41158793 C>T 0.0 3903 MELANOMA - - - - C6 uc003jml.2,p.E651K|ENST00000263413,p.E651K|ENST00000337836,p.E651K|uc003jmk.3,p.E651K|NM_000065,p.E651K|NM_001115131,p.E651K retained_intron, protein_coding, processed_transcript uc003jml.2 nonsynonymous SNV exon13 c.G1951A p.E651K EADSGCPQPVPPENGFIRNEKQLYL EADSGCPQPVPPKNGFIRNEKQLYL 3.0 2.0 - - 3903_5:41158793-41158793 C>T_EADSGCPQPVPPKNGFIRNEKQLYL 0.0 12:116443759-116443759 C>T 1.0 4196 COLORECTAL - - - - MED13L NM_015335,p.S795N|uc001tvw.3,p.S795N|ENST00000281928,p.S795N retained_intron, protein_coding, processed_transcript uc001tvw.3 nonsynonymous SNV exon13 c.G2384A p.S795N VRQDNAAGRAGSSSLTQVTDLAPSL VRQDNAAGRAGSNSLTQVTDLAPSL 10.0 6.0 - - 4196_12:116443759-116443759 C>T_VRQDNAAGRAGSNSLTQVTDLAPSL 0.0 12:51449713-51449713 C>T 1.0 3713 MELANOMA - - - - LETMD1 ENST00000262055,p.S190F|uc001rxm.3,p.S190F|NM_001243689,p.S203F|ENST00000418425,p.S203F|ENST00000551477,p.S157F|ENST00000550929,p.S134F|uc001rxl.3,p.S134F|NM_015416,p.S190F|uc009zlw.3,p.S203F|ENST00000552739,p.S73F|uc010smz.2,p.S140F|ENST00000549340,p.S140F|uc001rxn.3,p.S33F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC uc010smz.2 nonsynonymous SNV exon4 c.C419T p.S140F DFLDIYHAFRKQSHPEIISYLEKVI DFLDIYHAFRKQFHPEIISYLEKVI 10.0 5.0 - - 3713_12:51449713-51449713 C>T_DFLDIYHAFRKQFHPEIISYLEKVI 0.0 17:3585214-3585214 C>T 0.0 4346 COLORECTAL - - - - P2RX5 ENST00000550383,p.R347H|NM_002561,p.R347H|ENST00000345901,p.R323H|uc002fwi.3,p.R347H|ENST00000551178,p.R322H|NM_175080,p.R322H|NM_001204520,p.R323H|ENST00000225328,p.R347H|uc002fwj.3,p.R322H|ENST00000435558,p.R347H|ENST00000547178,p.R346H|ENST00000552276,p.R346H|uc002fwk.3,p.R346H|uc002fwl.3,p.R323H|uc010vrx.2,p.R287H|ENST00000552050,p.R287H|NM_001204519,p.R346H processed_transcript,retained_intron, nonsense_mediated_decay, protein_coding uc010vrx.2 nonsynonymous SNV exon8 c.G860A p.R287H VLIYLIKKREFYRDKKYEEVRGLED VLIYLIKKREFYHDKKYEEVRGLED 4.0 7.0 - - 4346_17:3585214-3585214 C>T_VLIYLIKKREFYHDKKYEEVRGLED 0.0 2:95542411-95542411 A>T 0.0 4238 COLORECTAL - - - - TEKT4 uc002stw.1,p.K402M|NM_001286559,p.K220M|NM_144705,p.K402M|ENST00000295201,p.K402M retained_intron, protein_coding uc002stw.1 nonsynonymous SNV exon6 c.A1205T p.K402M LRNLEDIHMSLEKDIAAMTNSLFID LRNLEDIHMSLEMDIAAMTNSLFID 1.0 2.0 - - 4238_2:95542411-95542411 A>T_LRNLEDIHMSLEMDIAAMTNSLFID 0.0 17:78346883-78346883 G>T 1.0 4234 NSCLC - - - 1 RNF213 ENST00000582970,p.R4287L|ENST00000336301,p.R2360L|uc021uen.2,p.R4287L|ENST00000508628,p.R4336L|NM_001256071,p.R4287L retained_intron, protein_coding, processed_transcript uc021uen.2 nonsynonymous SNV exon49 c.G12860T p.R4287L HRVYLVRKLSSQRGMEFVQGLSKPG HRVYLVRKLSSQLGMEFVQGLSKPG 9.0 9.0 - - 4234_17:78346883-78346883 G>T_HRVYLVRKLSSQLGMEFVQGLSKPG 0.0 1:178389736-178389736 C>T 1.0 3713 MELANOMA - - ID=COSM1689278,COSM1689277,COSM1689279;OCCURENCE=1(skin) - RASAL2 uc001glq.3,p.L219F|ENST00000462775,p.L71F|NM_170692,p.L219F|NM_004841,p.L71F|ENST00000448150,p.L201F|uc001glr.3,p.L71F|ENST00000367649,p.L219F retained_intron, protein_coding, processed_transcript uc001glr.3 nonsynonymous SNV exon3 c.C211T p.L71F KLDRNTSFRLPSLRSTDDRSRGLPK KLDRNTSFRLPSFRSTDDRSRGLPK 5.0 9.0 - - 3713_1:178389736-178389736 C>T_KLDRNTSFRLPSFRSTDDRSRGLPK 0.0 4:23815998-23815998 C>T 1.0 2369 MELANOMA - - - - PPARGC1A uc031sdz.1,p.E358K|uc003gqs.3,p.E370K|uc031seb.1,p.E375K|NM_013261,p.E370K|ENST00000264867,p.E370K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031seb.1 nonsynonymous SNV exon9 c.G1123A p.E375K LSKSSVLTGGHEERKTKRPSLRLFG LSKSSVLTGGHEKRKTKRPSLRLFG 8.0 7.0 - - 2369_4:23815998-23815998 C>T_LSKSSVLTGGHEKRKTKRPSLRLFG 0.0 19:23844919-23844919 G>A 1.0 3919 MELANOMA - - - - ZNF675 ENST00000359788,p.P75S|NM_138330,p.P75S|uc002nri.3,p.P75S retained_intron, protein_coding, nonsense_mediated_decay uc002nri.3 nonsynonymous SNV exon3 c.C223T p.P75S LTVKRHEMVNEPPVMCSHFAQEFWP LTVKRHEMVNEPSVMCSHFAQEFWP 3.0 4.0 - - 3919_19:23844919-23844919 G>A_LTVKRHEMVNEPSVMCSHFAQEFWP 0.0 3:130098701-130098701 G>T 0.0 4284 COLORECTAL - - - - COL6A5 ENST00000432398,p.A370S|NM_153264,p.A370S|ENST00000265379,p.A370S|uc010htj.2,p.A370S|uc010htk.2,p.A370S|ENST00000312481,p.A370S|NM_001278298,p.A370S protein_coding, nonsense_mediated_decay uc010htk.2 nonsynonymous SNV exon4 c.G1108T p.A370S ALNLRLEDVNVFALSIQGANNTQLE ALNLRLEDVNVFSLSIQGANNTQLE 4.0 5.0 - - 4284_3:130098701-130098701 G>T_ALNLRLEDVNVFSLSIQGANNTQLE 0.0 19:6697537-6697537 A>T 1.0 4126 NSCLC - - - - C3 uc002mfm.3,p.F872I|ENST00000245907,p.F872I|NM_000064,p.F872I retained_intron, protein_coding, processed_transcript uc002mfm.3 nonsynonymous SNV exon21 c.T2614A p.F872I LKVRVELLHNPAFCSLATTKRRHQQ LKVRVELLHNPAICSLATTKRRHQQ 10.0 8.0 - - 4126_19:6697537-6697537 A>T_LKVRVELLHNPAICSLATTKRRHQQ 0.0 19:18965940-18965940 C>T 1.0 3879 MELANOMA - - - - UPF1 uc002nkf.3,p.A478V|uc002nkg.3,p.A489V|NM_002911,p.A478V|ENST00000599848,p.A489V|ENST00000262803,p.A478V|NM_001297549,p.A489V retained_intron, protein_coding, processed_transcript uc002nkg.3 nonsynonymous SNV exon11 c.C1466T p.A489V QGLPDLNHSQVYAVKTVLQRPLSLI QGLPDLNHSQVYVVKTVLQRPLSLI 8.0 5.0 - - 3879_19:18965940-18965940 C>T_QGLPDLNHSQVYVVKTVLQRPLSLI 0.0 2:136873034-136873034 A>G 0.0 4126 NSCLC - - - 1 CXCR4 uc002tuy.3,p.V159A|ENST00000409817,p.V159A|uc002tuz.3,p.V155A|ENST00000241393,p.V155A|uc010fnk.3,p.V140A|NM_003467,p.V155A|NM_001008540,p.V159A protein_coding, processed_transcript uc010fnk.3 nonsynonymous SNV exon2 c.T419C p.V140A NSQRPRKLLAEKVVYVGVWIPALLL NSQRPRKLLAEKAVYVGVWIPALLL 8.0 1.0 - - 4126_2:136873034-136873034 A>G_NSQRPRKLLAEKAVYVGVWIPALLL 0.0 3:120489701-120489701 G>A 1.0 4284 COLORECTAL - - - - GTF2E1 ENST00000469772,p.R25Q|uc003edz.4,p.R192Q|ENST00000283875,p.R192Q|NM_005513,p.R192Q retained_intron, protein_coding uc003edz.4 nonsynonymous SNV exon3 c.G575A p.R192Q FNEQIEPIYALLRETEDVNLAYEIL FNEQIEPIYALLQETEDVNLAYEIL 9.0 5.0 - - 4284_3:120489701-120489701 G>A_FNEQIEPIYALLQETEDVNLAYEIL 0.0 9:79820249-79820249 C>T 1.0 3716 MELANOMA - - - - VPS13A ENST00000376636,p.P70S|uc004akp.4,p.P70S|NM_001018037,p.P70S|NM_033305,p.P70S|ENST00000376634,p.P70S|uc004akq.4,p.P70S|uc004akr.3,p.P70S|ENST00000357409,p.P70S|NM_015186,p.P70S|ENST00000360280,p.P70S|uc004aks.3,p.P70S|NM_001018038,p.P70S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004aks.3 nonsynonymous SNV exon4 c.C208T p.P70S KVGHIGNLKLIIPWKNLYTQPVEAV KVGHIGNLKLIISWKNLYTQPVEAV 7.0 6.0 - - 3716_9:79820249-79820249 C>T_KVGHIGNLKLIISWKNLYTQPVEAV 0.0 15:54557693-54557693 T>A 0.0 4326 BREAST - - - - UNC13C uc021smr.1,p.F1271I retained_intron, protein_coding uc021smr.1 nonsynonymous SNV exon8 c.T3811A p.F1271I IFGNLNPVWDEKFYFECHNSTDRIK IFGNLNPVWDEKIYFECHNSTDRIK 3.0 3.0 - - 4326_15:54557693-54557693 T>A_IFGNLNPVWDEKIYFECHNSTDRIK 0.0 20:46365584-46365584 G>A 1.0 3919 MELANOMA - - - - SULF2 uc002xto.3,p.S93F|NM_001161841,p.S93F|ENST00000361612,p.S93F|ENST00000437955,p.S93F|ENST00000467815,p.S93F|ENST00000359930,p.S93F|uc002xtr.3,p.S93F|NM_018837,p.S93F|uc010ghv.1,p.S93F|ENST00000484875,p.S93F|NM_198596,p.S93F|uc002xtq.3,p.S93F retained_intron, protein_coding, processed_transcript uc010ghv.1 nonsynonymous SNV exon3 c.C278T p.S93F AFVTTPMCCPSRSSILTGKYVHNHN AFVTTPMCCPSRFSILTGKYVHNHN 4.0 7.0 - - 3919_20:46365584-46365584 G>A_AFVTTPMCCPSRFSILTGKYVHNHN 0.0 9:117819464-117819464 C>T 0.0 4320 COLORECTAL - - - 2 TNC ENST00000535648,p.R1152Q|NM_002160,p.R1516Q|ENST00000341037,p.R1425Q|ENST00000340094,p.R1152Q|ENST00000350763,p.R1516Q|uc004bjj.4,p.R1516Q protein_coding, processed_transcript uc004bjj.4 nonsynonymous SNV exon15 c.G4547A p.R1516Q FIVYLSGLAPSIRTKTISATATTEA FIVYLSGLAPSIQTKTISATATTEA 8.0 7.0 - - 4320_9:117819464-117819464 C>T_FIVYLSGLAPSIQTKTISATATTEA 0.0 17:7578406-7578406 C>T 1.0 4196 COLORECTAL - - ID=COSM3355994,COSM1640851,COSM99024,COSM99023,COSM10648,COSM99914,COSM99022;OCCURENCE=4(skin),97(breast),9(biliary_tract),321(large_intestine),4(prostate),4(kidney),9(liver),22(pancreas),28(urinary_tract),1(adrenal_gland),65(ovary),1(soft_tissue),9(endometrium),2(salivary_gland),1(penis),18(lung),2(thyroid),35(haematopoietic_and_lymphoid_tissue),4(cervix),62(stomach),70(central_nervous_system),80(oesophagus),2(vulva),3(bone),51(upper_aerodigestive_tract) 1 TP53 NM_001126118,p.R136H|ENST00000420246,p.R175H|NM_001126112,p.R175H|uc010vug.3,p.R136H|ENST00000455263,p.R175H|ENST00000445888,p.R175H|uc002gio.3,p.R43H|ENST00000413465,p.R175H|NM_001126114,p.R175H|uc002gin.3,p.R82H|NM_001276760,p.R136H|uc010cnf.2,p.R16H|NM_001126115,p.R43H|uc010cng.2,p.R16H|NM_001126117,p.R43H|NM_001276699,p.R16H|uc002gig.1,p.R175H|NM_001276698,p.R16H|NM_000546,p.R175H|uc002gij.3,p.R136H|ENST00000514944,p.R82H|NM_001276761,p.R136H|ENST00000509690,p.R43H|NM_001126116,p.R43H|NM_001126113,p.R175H|NM_001276697,p.R16H|ENST00000269305,p.R175H|NM_001276695,p.R136H|uc002gih.3,p.R175H|ENST00000359597,p.R175H|NM_001276696,p.R136H|uc002gii.2,p.R16H|uc031qyq.1,p.R136H retained_intron, protein_coding, processed_transcript uc031qyq.1 nonsynonymous SNV exon4 c.G407A p.R136H YKQSQHMTEVVRRCPHHERCSDSDG YKQSQHMTEVVRHCPHHERCSDSDG 10.0 10.0 CD8 - 4196_17:7578406-7578406 C>T_YKQSQHMTEVVRHCPHHERCSDSDG 1.0 1:118693198-118693198 G>T 0.0 4259 COLORECTAL - - - - SPAG17 ENST00000336338,p.P95T|NM_206996,p.P95T|uc001ehk.2,p.P95T protein_coding, processed_transcript uc001ehk.2 nonsynonymous SNV exon3 c.C283A p.P95T LVGSASSKKAKKPVGGNAPLYYEVL LVGSASSKKAKKTVGGNAPLYYEVL 4.0 5.0 - - 4259_1:118693198-118693198 G>T_LVGSASSKKAKKTVGGNAPLYYEVL 0.0 1:236189262-236189262 C>T 0.0 4275 COLORECTAL - - - - NID1 ENST00000366595,p.V640I|ENST00000264187,p.V640I|uc009xgd.3,p.V640I|uc001hxo.3,p.V640I|NM_002508,p.V640I protein_coding uc009xgd.3 nonsynonymous SNV exon8 c.G1918A p.V640I PSTQQLSVDSVFVLYNQEEKILRYA PSTQQLSVDSVFILYNQEEKILRYA 6.0 5.0 - - 4275_1:236189262-236189262 C>T_PSTQQLSVDSVFILYNQEEKILRYA 0.0 19:35979706-35979706 C>T 1.0 4244 COLORECTAL - - - - KRTDAP ENST00000484218,p.E42K|NM_001244847,p.E42K|uc021uso.1,p.E42K protein_coding, processed_transcript uc021uso.1 nonsynonymous SNV exon2 c.G124A p.E42K EESTIENYASRPEAFKADEFLNWHA EESTIENYASRPKAFKADEFLNWHA 5.0 6.0 - - 4244_19:35979706-35979706 C>T_EESTIENYASRPKAFKADEFLNWHA 0.0 9:113197602-113197602 C>T 1.0 3713 MELANOMA - - - - SVEP1 uc010mtz.3,p.G1603R|ENST00000374469,p.G1580R|ENST00000401783,p.G1603R|NM_153366,p.G1603R protein_coding, processed_transcript uc010mtz.3 nonsynonymous SNV exon29 c.G4807A p.G1603R SLATSCPEELSKGNVLAWPDFLSGI SLATSCPEELSKRNVLAWPDFLSGI 2.0 8.0 - - 3713_9:113197602-113197602 C>T_SLATSCPEELSKRNVLAWPDFLSGI 0.0 4:146475155-146475155 T>G 1.0 4335 COLORECTAL - - - - SMAD1 ENST00000515385,p.L406R|uc003ikc.3,p.L406R|ENST00000394092,p.L406R|NM_005900,p.L406R|uc003ikd.3,p.L406R|uc011cic.2,p.L367R|ENST00000302085,p.L406R|uc010iov.3,p.L406R|NM_001003688,p.L406R retained_intron, protein_coding, processed_transcript uc011cic.2 nonsynonymous SNV exon4 c.T1100G p.L367R QSVNHGFETVYELTKMCTIRMSFVK QSVNHGFETVYERTKMCTIRMSFVK 9.0 5.0 - - 4335_4:146475155-146475155 T>G_QSVNHGFETVYERTKMCTIRMSFVK 0.0 1:247464342-247464342 A>C 1.0 4335 COLORECTAL - - - - ZNF496 uc009xgv.3,p.F451V|uc001ico.3,p.F415V|ENST00000294753,p.F415V|NM_032752,p.F415V|ENST00000366498,p.F451V|ENST00000461277,p.F340V protein_coding, processed_transcript uc009xgv.3 nonsynonymous SNV exon8 c.T1351G p.F451V KKSYVCPNCGKIFRWRVNFIRHLRS KKSYVCPNCGKIVRWRVNFIRHLRS 9.0 1.0 - - 4335_1:247464342-247464342 A>C_KKSYVCPNCGKIVRWRVNFIRHLRS 0.0 3:102175092-102175092 G>A 0.0 3795 MELANOMA - - ID=COSM110357;OCCURENCE=1(skin) - ZPLD1 uc003dvs.1,p.G128E|NM_175056,p.G144E|ENST00000306176,p.G144E|ENST00000491959,p.G128E|uc003dvt.1,p.G144E|uc011bhg.1,p.G128E|ENST00000466937,p.G128E protein_coding, processed_transcript uc011bhg.1 nonsynonymous SNV exon5 c.G383A p.G128E VSAYGNATSVQVGNISGYIDTPDPP VSAYGNATSVQVENISGYIDTPDPP 1.0 8.0 - - 3795_3:102175092-102175092 G>A_VSAYGNATSVQVENISGYIDTPDPP 0.0 3:113667758-113667758 C>T 1.0 3713 MELANOMA - - - - ZDHHC23 uc003eav.3,p.H31Y|NM_173570,p.H37Y|ENST00000491556,p.H37Y|ENST00000478793,p.H37Y|uc003eau.3,p.H37Y|ENST00000498275,p.H31Y|ENST00000330212,p.H37Y protein_coding, processed_transcript, nonsense_mediated_decay uc003eav.3 nonsynonymous SNV exon3 c.C91T p.H31Y CCEYIDRNGEKNHVATCLCDCQDLD CCEYIDRNGEKNYVATCLCDCQDLD 3.0 1.0 - - 3713_3:113667758-113667758 C>T_CCEYIDRNGEKNYVATCLCDCQDLD 0.0 13:113899523-113899523 C>T 1.0 3713 MELANOMA - - - - CUL4A uc021rmu.1,p.S401L|NM_001278514,p.S409L|ENST00000375440,p.S501L|ENST00000451881,p.S401L|uc010agu.3,p.S362L|NM_003589,p.S401L|uc021rmv.1,p.S501L|NM_001278513,p.S401L|ENST00000375441,p.S401L|ENST00000326335,p.S401L|NM_001008895,p.S501L|uc010tjz.2,p.S180L protein_coding, processed_transcript uc021rmv.1 nonsynonymous SNV exon14 c.C1502T p.S501L SKLEGMFKDMELSKDIMVHFKQHMQ SKLEGMFKDMELLKDIMVHFKQHMQ 9.0 3.0 - - 3713_13:113899523-113899523 C>T_SKLEGMFKDMELLKDIMVHFKQHMQ 0.0 7:5967982-5967982 G>T 1.0 4252 COLORECTAL - - - - RSPH10B,RSPH10B2 uc011jwk.2,p.T381K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011jwk.2 nonsynonymous SNV exon11 c.C1142A p.T381K MRDPRMIERKSSTRGSIICTSSL MRDPRMIERKSSKRGSIICTSSL 5.0 6.0 - - 4252_7:5967982-5967982 G>T_MRDPRMIERKSSKRGSIICTSSL 0.0 1:94586549-94586549 C>T 0.0 2359 MELANOMA - - - - ABCA4 ENST00000535735,p.R18Q|ENST00000370225,p.R18Q|uc001dqh.3,p.R18Q|uc010otn.1,p.R18Q|NM_000350,p.R18Q protein_coding, processed_transcript uc010otn.1 nonsynonymous SNV exon1 c.G53A p.R18Q QIQLLLWKNWTLRKRQKIRFVVELV QIQLLLWKNWTLQKRQKIRFVVELV 2.0 9.0 - - 2359_1:94586549-94586549 C>T_QIQLLLWKNWTLQKRQKIRFVVELV 0.0 2:196834709-196834709 T>C 1.0 4078 GASTRIC - - - - DNAH7 ENST00000312428,p.Q723R|NM_018897,p.Q723R|uc002utj.4,p.Q723R retained_intron, protein_coding, processed_transcript uc002utj.4 nonsynonymous SNV exon17 c.A2168G p.Q723R DLQDVQRYLKKAQILNGKLDLAADK DLQDVQRYLKKARILNGKLDLAADK 3.0 8.0 - - 4078_2:196834709-196834709 T>C_DLQDVQRYLKKARILNGKLDLAADK 0.0 6:114378489-114378489 G>A 0.0 4240 BREAST - - ID=COSM1072326;OCCURENCE=2(endometrium),1(large_intestine) - HS3ST5 ENST00000312719,p.R325C|NM_153612,p.R325C|ENST00000411826,p.R325C|uc003pwh.4,p.R325C|uc003pwg.4,p.R325C protein_coding, processed_transcript uc003pwh.4 nonsynonymous SNV exon5 c.C973T p.R325C HPEVDPSVITKLRKFFHPFNQKFYQ HPEVDPSVITKLCKFFHPFNQKFYQ 3.0 5.0 - - 4240_6:114378489-114378489 G>A_HPEVDPSVITKLCKFFHPFNQKFYQ 0.0 11:34120900-34120902 CAG>- 1.0 4196 COLORECTAL - - - - CAPRIN1 uc001mvh.1,p.706_706del|uc001mvj.1,p.625_625del|uc001mvi.2,p.706_706del|ENST00000529307,p.625_625del|ENST00000341394,p.706_706del|NM_005898,p.706_706del|ENST00000532820,p.706_706del protein_coding, processed_transcript, nonsense_mediated_decay uc001mvj.1 nonframeshift deletion exon18 c.1873_1875del p.625_625del PRPNRGMPQMNTQQVN PRPNRGMPQMNTQVN 10.0 8.0 - - 4196_11:34120900-34120902 CAG>-_PRPNRGMPQMNTQVN 0.0 6:37618104-37618104 C>T 1.0 3466 MELANOMA - - - - MDGA1 NM_153487,p.E464K|uc003onu.1,p.E464K|ENST00000297153,p.E464K|ENST00000434837,p.E464K|ENST00000505425,p.E464K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003onu.1 nonsynonymous SNV exon8 c.G1390A p.E464K TVREGSPAELQCEVRGKPRPPVLWS TVREGSPAELQCKVRGKPRPPVLWS 5.0 9.0 - - 3466_6:37618104-37618104 C>T_TVREGSPAELQCKVRGKPRPPVLWS 0.0 14:74062281-74062281 G>C 0.0 4134 NSCLC - - - - ACOT4 ENST00000326303,p.D397H|NM_152331,p.D397H|uc001xoo.3,p.D397H protein_coding uc001xoo.3 nonsynonymous SNV exon3 c.G1189C p.D397H GGEPRAHSKAQEDAWKQILAFFCKH GGEPRAHSKAQEHAWKQILAFFCKH 6.0 7.0 - - 4134_14:74062281-74062281 G>C_GGEPRAHSKAQEHAWKQILAFFCKH 0.0 1:75037109-75037109 C>A 0.0 4246 COLORECTAL - - - - ERICH3 ENST00000326665,p.A1429S|uc001dgg.3,p.A1429S|NM_001002912,p.A1429S protein_coding, processed_transcript uc001dgg.3 nonsynonymous SNV exon14 c.G4285T p.A1429S AAEEMTVTYTTEAGVGTPGALERKT AAEEMTVTYTTESGVGTPGALERKT 2.0 4.0 - - 4246_1:75037109-75037109 C>A_AAEEMTVTYTTESGVGTPGALERKT 0.0 17:30520173-30520173 C>T 0.0 3795 MELANOMA - - - - RHOT1 uc002hgz.3,p.P220S|NM_001288758,p.P93S|uc010wby.2,p.P220S|ENST00000358365,p.P220S|ENST00000545287,p.P220S|NM_001033566,p.P220S|uc002hgy.3,p.P220S|NM_001288755,p.P199S|ENST00000581031,p.P220S|uc002hgv.3,p.P220S|uc002hgx.3,p.P93S|ENST00000583994,p.P93S|uc002hha.3,p.P93S|ENST00000394692,p.P220S|NM_001288754,p.P220S|NM_001033567,p.P93S|NM_018307,p.P220S|uc002hhb.3,p.P199S|ENST00000581094,p.P220S|NM_001033568,p.P220S|uc002hgw.3,p.P220S|ENST00000354266,p.P199S|ENST00000333942,p.P220S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wby.2 nonsynonymous SNV exon10 c.C658T p.P220S ELNFFQRICFNTPLAPQALEDVKNV ELNFFQRICFNTSLAPQALEDVKNV 9.0 10.0 - - 3795_17:30520173-30520173 C>T_ELNFFQRICFNTSLAPQALEDVKNV 0.0 11:5809851-5809851 C>T 0.0 4284 COLORECTAL - - - - OR52N1 ENST00000317078,p.A66T|NM_001001913,p.A66T|uc010qzo.2,p.A66T protein_coding uc010qzo.2 nonsynonymous SNV exon1 c.G196A p.A66T DEALHRPMYVFLALLSFTDVLMCTS DEALHRPMYVFLTLLSFTDVLMCTS 2.0 9.0 - - 4284_11:5809851-5809851 C>T_DEALHRPMYVFLTLLSFTDVLMCTS 0.0 11:70319055-70319055 C>G 1.0 4078 GASTRIC - - - - SHANK2 ENST00000424924,p.E1102D|ENST00000338508,p.E1824D|uc001opy.3,p.E159D|ENST00000449833,p.E1228D|ENST00000409161,p.E1227D|ENST00000423696,p.E1444D|uc001opz.3,p.E1228D|ENST00000294018,p.E1447D|NM_133266,p.E1235D protein_coding, processed_transcript uc001opz.3 nonsynonymous SNV exon10 c.G3684C p.E1228D EIDGSHLPNLQKEDLIDLGVTRVGH EIDGSHLPNLQKDDLIDLGVTRVGH 10.0 9.0 - - 4078_11:70319055-70319055 C>G_EIDGSHLPNLQKDDLIDLGVTRVGH 0.0 8:109240562-109240562 A>C 1.0 2591 MELANOMA - - - 1 EIF3E uc003ymu.3,p.L219R|NM_001568,p.L219R|ENST00000220849,p.L219R|ENST00000519030,p.L126R|ENST00000519627,p.L92R|uc003ymt.3,p.L170R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003ymu.3 nonsynonymous SNV exon7 c.T656G p.L219R SLQQRTWLIHWSLFVFFNHPKGRDN SLQQRTWLIHWSRFVFFNHPKGRDN 10.0 1.0 - - 2591_8:109240562-109240562 A>C_SLQQRTWLIHWSRFVFFNHPKGRDN 0.0 10:15256395-15256395 G>A 0.0 3903 MELANOMA - - - - FAM171A1 ENST00000378116,p.H398Y|NM_001010924,p.H398Y|uc001iob.3,p.H398Y protein_coding, processed_transcript uc001iob.3 nonsynonymous SNV exon8 c.C1192T p.H398Y EAPGTKELMSGVHLEMMSPGGEGDL EAPGTKELMSGVYLEMMSPGGEGDL 4.0 9.0 - - 3903_10:15256395-15256395 G>A_EAPGTKELMSGVYLEMMSPGGEGDL 0.0 5:178548703-178548703 G>A 1.0 3713 MELANOMA - - - - ADAMTS2 NM_014244,p.S1046F|uc003mjw.3,p.S1046F|ENST00000251582,p.S1046F retained_intron, protein_coding uc003mjw.3 nonsynonymous SNV exon21 c.C3137T p.S1046F DPSKKSYVVQWLSRPDPDSPIRKIS DPSKKSYVVQWLFRPDPDSPIRKIS 3.0 2.0 - - 3713_5:178548703-178548703 G>A_DPSKKSYVVQWLFRPDPDSPIRKIS 0.0 2:182780661-182780661 G>C 0.0 4345 COLORECTAL - - - - SSFA2 uc002uol.3,p.R612T|uc002uoj.3,p.R765T|NM_001287503,p.R765T|ENST00000409136,p.R274T|ENST00000431877,p.R765T|NM_001130445,p.R765T|uc010zfo.2,p.R612T|NM_006751,p.R765T|uc002uoi.3,p.R765T|ENST00000409001,p.R765T|ENST00000320370,p.R765T|uc002uoh.3,p.R765T|uc002uom.3,p.R233T|NM_001287504,p.R612T|ENST00000428267,p.R612T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010zfo.2 nonsynonymous SNV exon10 c.G1835C p.R612T SVNVRLSPGKETRCSPPSFTYKYTP SVNVRLSPGKETTCSPPSFTYKYTP 10.0 7.0 - - 4345_2:182780661-182780661 G>C_SVNVRLSPGKETTCSPPSFTYKYTP 0.0 10:119134252-119134252 C>G 1.0 4335 COLORECTAL - - - - PDZD8 ENST00000334464,p.V163L|uc001lde.1,p.V163L|NM_173791,p.V163L protein_coding, processed_transcript uc001lde.1 nonsynonymous SNV exon1 c.G487C p.V163L GETVPFIKTIRLVRPVVPSATGEPD GETVPFIKTIRLLRPVVPSATGEPD 7.0 5.0 - - 4335_10:119134252-119134252 C>G_GETVPFIKTIRLLRPVVPSATGEPD 0.0 12:124163787-124163787 C>T 1.0 3466 MELANOMA - - - - TCTN2 ENST00000303372,p.P172L|ENST00000426174,p.P171L|uc001ufp.3,p.P172L|NM_001143850,p.P171L|NM_024809,p.P172L|uc009zya.3,p.P171L retained_intron, protein_coding, nonsense_mediated_decay uc009zya.3 nonsynonymous SNV exon5 c.C512T p.P171L IPNQVYQPLGPCPCNLTAGACDVRC IPNQVYQPLGPCLCNLTAGACDVRC 5.0 9.0 - - 3466_12:124163787-124163787 C>T_IPNQVYQPLGPCLCNLTAGACDVRC 0.0 3:119112367-119112367 G>T 0.0 4335 COLORECTAL - - ID=COSM359827;OCCURENCE=1(lung) - ARHGAP31 NM_020754,p.R312L|uc003ecj.4,p.R312L|ENST00000264245,p.R312L protein_coding uc003ecj.4 nonsynonymous SNV exon8 c.G935T p.R312L KSKKWKSIFNLGRSGSDSKSKLSRN KSKKWKSIFNLGLSGSDSKSKLSRN 9.0 7.0 - - 4335_3:119112367-119112367 G>T_KSKKWKSIFNLGLSGSDSKSKLSRN 0.0 15:59516972-59516972 G>T 1.0 3775 CERVICAL - - - - MYO1E ENST00000288235,p.S231R|ENST00000559269,p.S61R|uc002aga.4,p.S231R|NM_004998,p.S231R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002aga.4 nonsynonymous SNV exon8 c.C693A p.S231R ASAEQKHSLGITSMDYYYYLSLSGS ASAEQKHSLGITRMDYYYYLSLSGS 9.0 6.0 - - 3775_15:59516972-59516972 G>T_ASAEQKHSLGITRMDYYYYLSLSGS 0.0 8:11607630-11607630 G>A 0.0 4287 COLORECTAL - - ID=COSM1454350;OCCURENCE=1(large_intestine) - GATA4 uc011kxc.1,p.R266H|uc003wub.1,p.R59H|ENST00000528712,p.R59H|ENST00000526716,p.R59H|ENST00000335135,p.R265H|NM_002052,p.R265H|ENST00000532059,p.R266H|uc003wuc.2,p.R265H retained_intron, protein_coding, processed_transcript uc011kxc.1 nonsynonymous SNV exon3 c.G797A p.R266H PLIKPQRRLSASRRVGLSCANCQTT PLIKPQRRLSASHRVGLSCANCQTT 1.0 10.0 - - 4287_8:11607630-11607630 G>A_PLIKPQRRLSASHRVGLSCANCQTT 0.0 1:31350055-31350055 G>A 1.0 3678 MELANOMA - - - - SDC3 uc001bsd.2,p.P14S|ENST00000336798,p.P14S protein_coding, processed_transcript uc001bsd.2 nonsynonymous SNV exon1 c.C40T p.P14S AIAYLGSSCPSQPPSSLALSLSPTP AIAYLGSSCPSQSPSSLALSLSPTP 9.0 10.0 - - 3678_1:31350055-31350055 G>A_AIAYLGSSCPSQSPSSLALSLSPTP 0.0 6:143074519-143074519 C>T 1.0 2556 MELANOMA - - - - HIVEP2 ENST00000367603,p.E2356K|ENST00000367604,p.E2356K|ENST00000012134,p.E2356K|NM_006734,p.E2356K|uc003qjd.3,p.E2356K protein_coding, processed_transcript uc003qjd.3 nonsynonymous SNV exon10 c.G7066A p.E2356K ALLGPDQPARVQEPHQNPLGSAHVS ALLGPDQPARVQKPHQNPLGSAHVS 6.0 8.0 - - 2556_6:143074519-143074519 C>T_ALLGPDQPARVQKPHQNPLGSAHVS 0.0 10:19620486-19620486 T>A 0.0 3795 MELANOMA - - - - MALRD1 ENST00000377266,p.N601K|NM_001142308,p.N1292K|ENST00000454679,p.N588K protein_coding, processed_transcript NM_001142308 nonsynonymous SNV exon24 c.T3876A p.N1292K DKLCDFVNDCADNSDETTFICRTSS DKLCDFVNDCADKSDETTFICRTSS 1.0 9.0 - - 3795_10:19620486-19620486 T>A_DKLCDFVNDCADKSDETTFICRTSS 0.0 9:114199371-114199371 G>A 1.0 4136 BREAST - - - - KIAA0368 ENST00000259335,p.S364F|uc004bfe.1,p.S364F|ENST00000602447,p.S192F|uc010muc.1,p.S186F|NM_001080398,p.S364F|ENST00000338205,p.S186F protein_coding, processed_transcript uc010muc.1 nonsynonymous SNV exon7 c.C557T p.S186F VLLMPYGYVLNESQSRQNSSSAQGS VLLMPYGYVLNEFQSRQNSSSAQGS 10.0 4.0 CD8 - 4136_9:114199371-114199371 G>A_VLLMPYGYVLNEFQSRQNSSSAQGS 1.0 7:49815341-49815341 G>A 0.0 4160 COLORECTAL - - - - VWC2 uc003tot.1,p.A104T|ENST00000340652,p.A104T|NM_198570,p.A104T protein_coding uc003tot.1 nonsynonymous SNV exon2 c.G310A p.A104T KLKQAWVSQGGGAKAGDLQVRPRGD KLKQAWVSQGGGTKAGDLQVRPRGD 1.0 2.0 - - 4160_7:49815341-49815341 G>A_KLKQAWVSQGGGTKAGDLQVRPRGD 0.0 16:24580388-24580388 C>T 1.0 3795 MELANOMA - - - - RBBP6 uc002dmk.3,p.R626C|uc002dmi.3,p.R759C|uc010vcb.1,p.R660C|uc002dmh.3,p.R793C|ENST00000319715,p.R793C|ENST00000348022,p.R759C|ENST00000564314,p.R660C|NM_006910,p.R793C|NM_018703,p.R759C retained_intron, protein_coding uc010vcb.1 nonsynonymous SNV exon15 c.C1978T p.R660C PNKRNVPQGETEREYFNRYREVPPP PNKRNVPQGETECEYFNRYREVPPP 10.0 6.0 CD8 - 3795_16:24580388-24580388 C>T_PNKRNVPQGETECEYFNRYREVPPP 1.0 4:113353153-113353153 C>A 1.0 3716 MELANOMA - - - - ALPK1 NM_025144,p.P817Q|uc011cfx.2,p.P739Q|ENST00000504176,p.P739Q|ENST00000458497,p.P817Q|uc003iap.4,p.P817Q|uc010imo.3,p.P645Q|ENST00000177648,p.P817Q|NM_001102406,p.P817Q|uc003ian.4,p.P817Q|NM_001253884,p.P739Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cfx.2 nonsynonymous SNV exon10 c.C2216A p.P739Q VLHNSLGNISMLPCSSFTPNWPVQN VLHNSLGNISMLQCSSFTPNWPVQN 9.0 3.0 - - 3716_4:113353153-113353153 C>A_VLHNSLGNISMLQCSSFTPNWPVQN 0.0 5:74930784-74930784 T>C 0.0 3903 MELANOMA - - - - ANKDD1B uc031ski.1,p.L221P|ENST00000601380,p.L221P|NM_001276713,p.L221P retained_intron, protein_coding, processed_transcript uc031ski.1 nonsynonymous SNV exon6 c.T662C p.L221P AAERGHVEMIEKLTFLNLHTSEKDK AAERGHVEMIEKPTFLNLHTSEKDK 3.0 3.0 - - 3903_5:74930784-74930784 T>C_AAERGHVEMIEKPTFLNLHTSEKDK 0.0 1:248525559-248525559 T>G 0.0 4213 COLORECTAL - - - - OR2T4 NM_001004696,p.L226R|ENST00000366475,p.L226R|uc001ieh.1,p.L226R protein_coding uc001ieh.1 nonsynonymous SNV exon1 c.T677G p.L226R PAVLNLSCSDTSLYEIFMYLCCVLM PAVLNLSCSDTSRYEIFMYLCCVLM 1.0 5.0 - - 4213_1:248525559-248525559 T>G_PAVLNLSCSDTSRYEIFMYLCCVLM 0.0 7:50132748-50132748 G>C 0.0 4081 COLORECTAL - - - - ZPBP uc010kyw.3,p.R15G|ENST00000046087,p.R15G|ENST00000413331,p.R15G|uc003tou.3,p.R15G|NM_001159878,p.R15G|NM_007009,p.R15G|ENST00000419417,p.R15G protein_coding, processed_transcript, nonsense_mediated_decay uc010kyw.3 nonsynonymous SNV exon1 c.C43G p.R15G AFALGPARRGRRRTRAAGSLLSRAA AFALGPARRGRRGTRAAGSLLSRAA 1.0 6.0 - - 4081_7:50132748-50132748 G>C_AFALGPARRGRRGTRAAGSLLSRAA 0.0 16:2258780-2258780 C>T 1.0 3713 MELANOMA - - - - MLST8 ENST00000569417,p.R295W|NM_001199174,p.R295W|ENST00000565250,p.R295W|uc002cpf.3,p.R295W|uc002cpb.3,p.R294W|NM_001199173,p.R295W|uc002cpe.3,p.R295W|ENST00000397124,p.R295W|ENST00000564088,p.R295W|uc010uvx.2,p.R229W|NM_001199175,p.R294W|ENST00000382450,p.R294W|uc002cpc.3,p.R295W|uc002coz.3,p.R295W|uc002cpd.3,p.R229W|NM_022372,p.R295W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010uvx.2 nonsynonymous SNV exon8 c.C685T p.R229W QYIVTASSDNLARLWCVETGEIKRE QYIVTASSDNLAWLWCVETGEIKRE 8.0 2.0 - - 3713_16:2258780-2258780 C>T_QYIVTASSDNLAWLWCVETGEIKRE 0.0 3:183906916-183906916 C>T 1.0 4189 MELANOMA 0.0005 - - - ABCF3 uc003fnb.2,p.R21W|uc003fmz.2,p.R340W|ENST00000292808,p.R334W|NM_018358,p.R340W|ENST00000429586,p.R340W|uc003fna.2,p.R334W retained_intron, protein_coding, nonsense_mediated_decay uc003fnb.2 nonsynonymous SNV exon3 c.C61T p.R21W FSGGWRMRLALARALFARPDLLLLD FSGGWRMRLALAWALFARPDLLLLD 9.0 9.0 - - 4189_3:183906916-183906916 C>T_FSGGWRMRLALAWALFARPDLLLLD 0.0 X:148664778-148664778 C>T 0.0 3795 MELANOMA - - ID=COSM3843840;OCCURENCE=1(breast) - MAGEA9,MAGEA9B NM_001080790,p.G20R|NM_005365,p.G20R|uc004fdk.3,p.G20R|uc022cgj.1,p.G20R|ENST00000243314,p.G20R protein_coding uc022cgj.1 nonsynonymous SNV exon1 c.G58A p.G20R PHCKPDEDLEAQGEDLGLMGAQEPT PHCKPDEDLEAQREDLGLMGAQEPT 1.0 2.0 - - 3795_X:148664778-148664778 C>T_PHCKPDEDLEAQREDLGLMGAQEPT 0.0 17:18049218-18049218 T>A 1.0 4287 COLORECTAL - - - - MYO15A uc021trl.1,p.H2100Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021trl.1 nonsynonymous SNV exon29 c.T6300A p.H2100Q IFKLILRFMGDPHLHGARENIFGNY IFKLILRFMGDPQLHGARENIFGNY 5.0 7.0 - - 4287_17:18049218-18049218 T>A_IFKLILRFMGDPQLHGARENIFGNY 0.0 16:20432653-20432653 A>T 0.0 3466 MELANOMA - - - - ACSM5 ENST00000573920,p.T20S|uc002dhe.3,p.T233S|ENST00000331849,p.T233S|NM_017888,p.T233S retained_intron, protein_coding, nonsense_mediated_decay uc002dhe.3 nonsynonymous SNV exon5 c.A697T p.T233S SRDPLAIYFTSGTTGAPKMVEHSQS SRDPLAIYFTSGSTGAPKMVEHSQS 1.0 4.0 - - 3466_16:20432653-20432653 A>T_SRDPLAIYFTSGSTGAPKMVEHSQS 0.0 14:24780394-24780394 C>G 0.0 4186 BREAST - - - - LTB4R2 uc001wor.3,p.P175R|NM_001164692,p.P175R|NM_019839,p.P175R|ENST00000530080,p.P175R|uc010alo.3,p.P175R|ENST00000543919,p.P175R|uc021rrp.1,p.P175R|ENST00000533293,p.P175R|ENST00000528054,p.P206R protein_coding uc021rrp.1 nonsynonymous SNV exon1 c.C524G p.P175R WRDRVCQLCHPSPVHAAAHLSLETL WRDRVCQLCHPSRVHAAAHLSLETL 5.0 9.0 - - 4186_14:24780394-24780394 C>G_WRDRVCQLCHPSRVHAAAHLSLETL 0.0 11:95560969-95560969 C>T 1.0 3713 MELANOMA - - - - CEP57 uc001pfr.2,p.A150V|NM_014679,p.A302V|NM_001243776,p.A293V|uc010ruh.2,p.A293V|uc001pfp.2,p.A302V|uc009ywn.2,p.A150V|ENST00000537677,p.A275V|ENST00000325542,p.A302V|ENST00000541150,p.A293V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ruh.2 nonsynonymous SNV exon10 c.C878T p.A293V PFVAGKSTSPSHAVVANVQLVLHLM PFVAGKSTSPSHVVVANVQLVLHLM 8.0 3.0 - - 3713_11:95560969-95560969 C>T_PFVAGKSTSPSHVVVANVQLVLHLM 0.0 1:198713260-198713260 A>C 0.0 4238 COLORECTAL - - - 1 PTPRC ENST00000594404,p.L762F|NM_080921,p.L764F|ENST00000352140,p.L875F|uc001gut.2,p.L764F|ENST00000367376,p.L923F|ENST00000442510,p.L925F|uc001gur.2,p.L925F|NM_002838,p.L925F|ENST00000348564,p.L764F retained_intron, protein_coding, processed_transcript, non_stop_decay uc001gut.2 nonsynonymous SNV exon23 c.A2292C p.L764F NQFGETEVNLSELHPYLHNMKKRDP NQFGETEVNLSEFHPYLHNMKKRDP 2.0 1.0 - - 4238_1:198713260-198713260 A>C_NQFGETEVNLSEFHPYLHNMKKRDP 0.0 12:70963716-70963716 G>A 1.0 3713 MELANOMA - - - 1 PTPRB uc009zrr.2,p.P1004S|NM_002837,p.P907S|uc001swa.4,p.P1037S|uc001swb.4,p.P907S|NM_001206972,p.P907S|ENST00000550358,p.P1037S|NM_001109754,p.P1125S|uc010stp.2,p.P817S|NM_001206971,p.P817S|ENST00000261266,p.P907S|uc001swd.4,p.P1124S|ENST00000551525,p.P1124S|uc010sto.2,p.P907S|ENST00000548122,p.P1004S|ENST00000538708,p.P907S|ENST00000451516,p.P817S|uc001swc.4,p.P1125S|ENST00000334414,p.P1125S|ENST00000550857,p.P817S retained_intron, protein_coding, processed_transcript uc010stp.2 nonsynonymous SNV exon11 c.C2449T p.P817S VQQSAFIEGFTVPSAVKNIHISPNG VQQSAFIEGFTVSSAVKNIHISPNG 2.0 6.0 - - 3713_12:70963716-70963716 G>A_VQQSAFIEGFTVSSAVKNIHISPNG 0.0 8:117950717-117950717 G>A 0.0 4160 COLORECTAL - - - - AARD uc003yof.3,p.V79M|NM_001025357,p.V79M|ENST00000378279,p.V79M protein_coding, processed_transcript uc003yof.3 nonsynonymous SNV exon1 c.G235A p.V79M FQWAVQRAISRRVQEAAAAAAAREE FQWAVQRAISRRMQEAAAAAAAREE 1.0 2.0 - - 4160_8:117950717-117950717 G>A_FQWAVQRAISRRMQEAAAAAAAREE 0.0 6:32800111-32800111 T>C 1.0 3919 MELANOMA - - - - TAP2 ENST00000374899,p.Q424R|uc011dqf.1,p.Q424R|uc003ocb.1,p.Q424R|uc003ocd.3,p.Q424R|uc003occ.3,p.Q424R|NM_001290043,p.Q424R|ENST00000452392,p.Q424R|NM_018833,p.Q424R|ENST00000374897,p.Q424R retained_intron, protein_coding, processed_transcript uc011dqf.1 nonsynonymous SNV exon7 c.A1271G p.Q424R FMIYQESVGSYVQTLVYIYGDMLSN FMIYQESVGSYVRTLVYIYGDMLSN 5.0 3.0 - - 3919_6:32800111-32800111 T>C_FMIYQESVGSYVRTLVYIYGDMLSN 0.0 20:35563433-35563433 C>G 0.0 4335 COLORECTAL - - - - SAMHD1 uc002xgh.2,p.G170R|ENST00000262878,p.G170R|NM_015474,p.G170R retained_intron, protein_coding uc002xgh.2 nonsynonymous SNV exon4 c.G508C p.G170R PGASHNRFEHSLGVGYLAGCLVHAL PGASHNRFEHSLRVGYLAGCLVHAL 10.0 7.0 - - 4335_20:35563433-35563433 C>G_PGASHNRFEHSLRVGYLAGCLVHAL 0.0 1:23219413-23219413 C>T 0.0 2359 MELANOMA - - - - EPHB2 ENST00000374632,p.P489S|uc009vqj.1,p.P489S|uc001bgf.3,p.P489S|NM_017449,p.P489S|ENST00000374630,p.P489S|NM_004442,p.P489S|ENST00000374627,p.P484S|uc010odu.2,p.P489S|ENST00000400191,p.P489S|uc001bge.3,p.P489S protein_coding, processed_transcript uc010odu.2 nonsynonymous SNV exon8 c.C1465T p.P489S ELSEYNATAIKSPTNTVTVQGLKAG ELSEYNATAIKSSTNTVTVQGLKAG 3.0 8.0 - - 2359_1:23219413-23219413 C>T_ELSEYNATAIKSSTNTVTVQGLKAG 0.0 17:7226985-7226985 C>G 1.0 4252 COLORECTAL - - - - NEURL4 uc002ggc.1,p.W119C|ENST00000399464,p.W773C|NM_032442,p.W773C|ENST00000573186,p.W518C|ENST00000570460,p.W751C|uc002gga.1,p.W773C|ENST00000315614,p.W773C|uc002ggb.1,p.W773C|NM_001005408,p.W773C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002ggc.1 nonsynonymous SNV exon10 c.G357C p.W119C LFEIVIQKMVDRWSGSIEAGVTAIR LFEIVIQKMVDRCSGSIEAGVTAIR 8.0 9.0 - - 4252_17:7226985-7226985 C>G_LFEIVIQKMVDRCSGSIEAGVTAIR 0.0 2:180310306-180310306 G>T 0.0 4186 BREAST - - - - ZNF385B NM_152520,p.H356N|NM_001282725,p.H254N|uc002unm.3,p.H280N|NM_001113397,p.H280N|NM_001113398,p.H254N|ENST00000410066,p.H356N|ENST00000336917,p.H254N|uc002unl.4,p.H253N|uc002unn.4,p.H356N|ENST00000409692,p.H254N|ENST00000409343,p.H280N|uc002unj.3,p.H254N protein_coding, processed_transcript uc002unn.4 nonsynonymous SNV exon8 c.C1066A p.H356N QNKTFHCEICDVHVNSEIQLKQHIS QNKTFHCEICDVNVNSEIQLKQHIS 5.0 10.0 - - 4186_2:180310306-180310306 G>T_QNKTFHCEICDVNVNSEIQLKQHIS 0.0 20:60881767-60881767 G>A 1.0 3466 MELANOMA - - - - ADRM1 NM_175573,p.G173E|ENST00000253003,p.G173E|NM_001281437,p.G134E|NM_007002,p.G173E|uc002yco.3,p.G173E|NM_001281438,p.G134E|uc002ycn.3,p.G173E protein_coding, processed_transcript uc002yco.3 nonsynonymous SNV exon5 c.G518A p.G173E GNMSHSQLMQLIGPAGLGGLGGLGA GNMSHSQLMQLIEPAGLGGLGGLGA 8.0 3.0 - - 3466_20:60881767-60881767 G>A_GNMSHSQLMQLIEPAGLGGLGGLGA 0.0 17:45363729-45363729 C>T 0.0 4278 COLORECTAL - - - - ITGB3 ENST00000559488,p.R240W|uc002ilj.3,p.R240W|NM_000212,p.R240W|uc002ili.1,p.R240W|ENST00000435993,p.R193W|ENST00000571680,p.R240W protein_coding, nonsense_mediated_decay uc002ilj.3 nonsynonymous SNV exon5 c.C718T p.R240W RFNEEVKKQSVSRNRDAPEGGFDAI RFNEEVKKQSVSWNRDAPEGGFDAI 7.0 9.0 - - 4278_17:45363729-45363729 C>T_RFNEEVKKQSVSWNRDAPEGGFDAI 0.0 14:103188564-103188564 C>T 1.0 3784 MELANOMA - - - - RCOR1 ENST00000560472,p.T35M retained_intron, protein_coding, nonsense_mediated_decay ENST00000560472 nonsynonymous SNV exon2 c.C104T p.T35M SGNMAEIFRQSQT SGNMAEIFRQSQM 8.0 5.0 - - 3784_14:103188564-103188564 C>T_SGNMAEIFRQSQM 0.0 11:116707116-116707116 A>G 0.0 4326 BREAST - - - - APOA1 uc001ppv.1,p.L71P|ENST00000236850,p.L71P|ENST00000359492,p.L71P|ENST00000375323,p.L71P|NM_000039,p.L71P|ENST00000375320,p.L71P protein_coding uc001ppv.1 nonsynonymous SNV exon4 c.T212C p.L71P GSALGKQLNLKLLDNWDSVTSTFSK GSALGKQLNLKLPDNWDSVTSTFSK 3.0 7.0 - - 4326_11:116707116-116707116 A>G_GSALGKQLNLKLPDNWDSVTSTFSK 0.0 1:155110536-155110536 T>A 1.0 3678 MELANOMA - - - - SLC50A1 ENST00000368404,p.C176S|NM_001287587,p.C169S|NM_001287592,p.C58S|ENST00000368401,p.C121S|uc001fhl.4,p.C122S|uc001fhk.4,p.C121S|NM_001287586,p.C130S|NM_001122837,p.C121S|ENST00000484157,p.C111S|NM_018845,p.C176S|NM_001287591,p.C138S|NM_001122839,p.C122S|NM_001287589,p.C67S|ENST00000303343,p.C122S|NM_001287588,p.C121S|uc001fhj.4,p.C176S|NM_001287590,p.C111S protein_coding, processed_transcript uc001fhl.4 nonsynonymous SNV exon4 c.T364A p.C122S LTIATLLTSASWCLYGFRLRDPYIM LTIATLLTSASWSLYGFRLRDPYIM 8.0 2.0 - - 3678_1:155110536-155110536 T>A_LTIATLLTSASWSLYGFRLRDPYIM 0.0 17:61086927-61086927 C>T 0.0 4235 COLORECTAL - - - - TANC2 uc002jal.4,p.R3W|ENST00000424789,p.R3W|ENST00000389520,p.R3W|NM_025185,p.R3W retained_intron, protein_coding uc002jal.4 nonsynonymous SNV exon1 c.C7T p.R3W MFRNSLKMLLTGGKS MFWNSLKMLLTGGKS 7.0 5.0 - - 4235_17:61086927-61086927 C>T_MFWNSLKMLLTGGKS 0.0 8:144941537-144941537 T>C 1.0 4335 COLORECTAL - - - - EPPK1 NM_031308,p.E1962G|uc003zaa.1,p.E1962G|ENST00000525985,p.E1962G protein_coding uc003zaa.1 nonsynonymous SNV exon1 c.A5885G p.E1962G SVDEAVDVGLVNEELRERLLKAERA SVDEAVDVGLVNGELRERLLKAERA 10.0 1.0 - - 4335_8:144941537-144941537 T>C_SVDEAVDVGLVNGELRERLLKAERA 0.0 X:32663098-32663098 G>T 1.0 4317 COLORECTAL - - - - DMD uc004ddb.1,p.Q370K|NM_000109,p.Q370K|NM_004009,p.Q374K|ENST00000288447,p.Q370K|uc004dcz.2,p.Q255K|NM_004006,p.Q378K|NM_004010,p.Q255K|ENST00000378677,p.Q374K|uc004dda.1,p.Q378K|uc004ddf.3,p.Q370K|uc004dcy.1,p.Q374K|ENST00000357033,p.Q378K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004ddf.3 nonsynonymous SNV exon10 c.C1108A p.Q370K GEISNDVEVVKDQFHTHEGYMMDLT GEISNDVEVVKDKFHTHEGYMMDLT 6.0 5.0 - - 4317_X:32663098-32663098 G>T_GEISNDVEVVKDKFHTHEGYMMDLT 0.0 19:4652413-4652413 G>A 1.0 4259 COLORECTAL - - - - TNFAIP8L1 uc021une.1,p.G178S|ENST00000536716,p.G178S|NM_001167942,p.G178S|uc021unf.1,p.G178S|uc002max.3,p.G178S|ENST00000327473,p.G178S|NM_152362,p.G178S protein_coding, processed_transcript uc021unf.1 nonsynonymous SNV exon1 c.G532A p.G178S YRSHLRRICEGLGRMLDEGSL YRSHLRRICEGLSRMLDEGSL 7.0 8.0 - - 4259_19:4652413-4652413 G>A_YRSHLRRICEGLSRMLDEGSL 0.0 5:180486744-180486744 C>T 0.0 4316 COLORECTAL - - - - BTNL9 uc003mmt.3,p.P497L|NM_152547,p.P497L|ENST00000376842,p.P498L|ENST00000327705,p.P497L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003mmt.3 nonsynonymous SNV exon11 c.C1490T p.P497L YFRPRAHDGGEHPDPLTICPLPVRG YFRPRAHDGGEHLDPLTICPLPVRG 6.0 1.0 - - 4316_5:180486744-180486744 C>T_YFRPRAHDGGEHLDPLTICPLPVRG 0.0 X:23397816-23397816 G>C 0.0 4186 BREAST - - - - PTCHD1 uc004dal.4,p.V154L|ENST00000379361,p.V154L|uc010nfu.2,p.V154L|NM_173495,p.V154L protein_coding uc010nfu.2 nonsynonymous SNV exon2 c.G460C p.V154L LNNDKTCIVDDIVHVLEELKNARAT LNNDKTCIVDDILHVLEELKNARAT 1.0 9.0 - - 4186_X:23397816-23397816 G>C_LNNDKTCIVDDILHVLEELKNARAT 0.0 1:169439258-169439258 G>A 1.0 2369 MELANOMA - - - - SLC19A2 NM_006996,p.P325L|ENST00000367804,p.P124L|ENST00000236137,p.P325L|uc001ggf.4,p.P124L|uc001gge.4,p.P325L|ENST00000367802,p.P287L protein_coding uc001ggf.4 nonsynonymous SNV exon2 c.C371T p.P124L VNYTQGLWEKVMPSRYAAIYNGGVE VNYTQGLWEKVMLSRYAAIYNGGVE 9.0 7.0 - - 2369_1:169439258-169439258 G>A_VNYTQGLWEKVMLSRYAAIYNGGVE 0.0 8:114326907-114326907 T>G 0.0 4213 COLORECTAL - - - 2 CSMD3 ENST00000455883,p.E98D|uc003ynt.3,p.E58D|NM_198124,p.E58D|uc003ynu.3,p.E98D|NM_052900,p.E98D|ENST00000343508,p.E58D|uc010mcx.1,p.E98D|uc011lhx.2,p.E98D|uc003ynx.4,p.E98D|ENST00000297405,p.E98D|NM_198123,p.E98D|ENST00000352409,p.E98D retained_intron, protein_coding, processed_transcript uc011lhx.2 nonsynonymous SNV exon2 c.A294C p.E98D PNGANCTWVIIAEERNRIQIVFQSF PNGANCTWVIIADERNRIQIVFQSF 2.0 7.0 - - 4213_8:114326907-114326907 T>G_PNGANCTWVIIADERNRIQIVFQSF 0.0 20:49191091-49191091 A>T 1.0 4037 NSCLC - - - - PTPN1 NM_002827,p.K131I|ENST00000371621,p.K131I|NM_001278618,p.K58I|ENST00000541713,p.K58I|uc002xvl.3,p.K131I|uc010zys.2,p.K58I protein_coding uc010zys.2 nonsynonymous SNV exon4 c.A173T p.K58I LKCAQYWPQKEEKEMIFEDTNLKLT LKCAQYWPQKEEIEMIFEDTNLKLT 9.0 10.0 - - 4037_20:49191091-49191091 A>T_LKCAQYWPQKEEIEMIFEDTNLKLT 0.0 5:140537209-140537209 G>A 0.0 4240 BREAST - - - - PCDHB17 uc003lis.3,p.E544K|ENST00000539533,p.E545K protein_coding uc003lis.3 nonsynonymous SNV exon1 c.G1630A p.E544K GASDRGSPALSSEALVRVLVCWTPT GASDRGSPALSSKALVRVLVCWTPT 5.0 7.0 - - 4240_5:140537209-140537209 G>A_GASDRGSPALSSKALVRVLVCWTPT 0.0 11:68773372-68773372 C>A 0.0 4298 COLORECTAL - - - - MRGPRF uc001ooo.4,p.A136S|NM_001098515,p.A136S|ENST00000309099,p.A136S|uc001oop.4,p.A136S|NM_145015,p.A136S|ENST00000441623,p.A136S protein_coding uc001oop.4 nonsynonymous SNV exon3 c.G406T p.A136S LCMFLTGVSLLPAVSAERCASVIFP LCMFLTGVSLLPSVSAERCASVIFP 3.0 5.0 - - 4298_11:68773372-68773372 C>A_LCMFLTGVSLLPSVSAERCASVIFP 0.0 X:31893388-31893388 G>A 0.0 3713 MELANOMA - - - - DMD NM_004011,p.H998Y|ENST00000378677,p.H2335Y|NM_004012,p.H995Y|uc004dda.1,p.H2339Y|NM_004010,p.H2216Y|NM_004009,p.H2335Y|NM_004006,p.H2339Y|NM_000109,p.H2331Y|uc004dcw.2,p.H995Y|uc004dcx.2,p.H998Y|ENST00000357033,p.H2339Y|ENST00000358062,p.H35Y|uc004dcy.1,p.H2335Y|uc004ddb.1,p.H2331Y|uc004dcz.2,p.H2216Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004ddb.1 nonsynonymous SNV exon48 c.C6991T p.H2331Y EKKLEDLEEQLNHLLLWLSPIRNQL EKKLEDLEEQLNYLLLWLSPIRNQL 8.0 10.0 - - 3713_X:31893388-31893388 G>A_EKKLEDLEEQLNYLLLWLSPIRNQL 0.0 6:32180934-32180934 G>A 0.0 4245 COLORECTAL - - - - NOTCH4 ENST00000375023,p.L806F|uc003obb.3,p.L806F|NM_004557,p.L806F retained_intron, protein_coding, processed_transcript uc003obb.3 nonsynonymous SNV exon15 c.C2416T p.L806F AMGFQGPRCEGKLRPSCADSPCRNR AMGFQGPRCEGKFRPSCADSPCRNR 8.0 4.0 - - 4245_6:32180934-32180934 G>A_AMGFQGPRCEGKFRPSCADSPCRNR 0.0 6:158551462-158551462 T>G 1.0 4237 NSCLC - - - - SERAC1 NM_032861,p.E265D|ENST00000367104,p.E265D|uc003qrc.2,p.E265D|ENST00000367101,p.E265D|ENST00000367102,p.E265D protein_coding uc003qrc.2 nonsynonymous SNV exon9 c.A795C p.E265D GGNGLPYAESFGEVPSATVEMFCLE GGNGLPYAESFGDVPSATVEMFCLE 6.0 3.0 - - 4237_6:158551462-158551462 T>G_GGNGLPYAESFGDVPSATVEMFCLE 0.0 1:44085794-44085794 G>A 1.0 3713 MELANOMA - - - - PTPRF ENST00000372407,p.G786R|NM_002840,p.G1714R|ENST00000438120,p.G1705R|uc001cju.3,p.G1103R|NM_130440,p.G1705R|uc009vwt.3,p.G1274R|ENST00000359947,p.G1714R|uc001cjs.3,p.G1705R|ENST00000372413,p.G1705R|uc001cjw.3,p.G940R|uc001cjr.3,p.G1714R|ENST00000372414,p.G1714R|uc001cjv.3,p.G1185R|ENST00000422171,p.G1073R protein_coding, processed_transcript uc009vwt.3 nonsynonymous SNV exon21 c.G3820A p.G1274R GYRQQKAYIATQGPLAESTEDFWRM GYRQQKAYIATQRPLAESTEDFWRM 8.0 6.0 - - 3713_1:44085794-44085794 G>A_GYRQQKAYIATQRPLAESTEDFWRM 0.0 1:171509789-171509789 C>T 1.0 3713 MELANOMA - - - - PRRC2C NM_015172,p.P1060S|ENST00000392078,p.P1062S|ENST00000367742,p.P1062S|ENST00000338920,p.P1060S|uc010pmg.2,p.P1060S|uc010pmh.2,p.P37S|ENST00000426496,p.P1060S retained_intron, protein_coding, processed_transcript uc010pmh.2 nonsynonymous SNV exon1 c.C109T p.P37S VKPEKTEKKDLPPPPPPPQPPAPIQ VKPEKTEKKDLPSPPPPPQPPAPIQ 9.0 9.0 - - 3713_1:171509789-171509789 C>T_VKPEKTEKKDLPSPPPPPQPPAPIQ 0.0 15:78882677-78882677 A>T 1.0 3716 MELANOMA - - - - CHRNA5 NM_000745,p.E315V|ENST00000299565,p.E315V|uc002bdy.3,p.E315V protein_coding uc002bdy.3 nonsynonymous SNV exon5 c.A944T p.E315V IPSSSKVIPLIGEYLVFTMIFVTLS IPSSSKVIPLIGVYLVFTMIFVTLS 4.0 5.0 - - 3716_15:78882677-78882677 A>T_IPSSSKVIPLIGVYLVFTMIFVTLS 0.0 7:138601857-138601857 T>G 0.0 4186 BREAST - - - 2 KIAA1549 ENST00000422774,p.I839L|uc011kql.2,p.I839L|NM_001164665,p.I839L|NM_020910,p.I839L|ENST00000440172,p.I839L|ENST00000242365,p.I789L|uc011kqj.2,p.I839L protein_coding uc011kql.2 nonsynonymous SNV exon2 c.A2515C p.I839L SFSKAIPTGTVLITDAYLPSGSSFV SFSKAIPTGTVLLTDAYLPSGSSFV 3.0 6.0 - - 4186_7:138601857-138601857 T>G_SFSKAIPTGTVLLTDAYLPSGSSFV 0.0 17:39023182-39023182 C>T 0.0 4301 MELANOMA - - - - KRT12 uc002hvk.2,p.G86E|ENST00000251643,p.G86E|NM_000223,p.G86E protein_coding uc002hvk.2 nonsynonymous SNV exon1 c.G257A p.G86E GSSMAGGLGAGYGRALGGGSFGGLG GSSMAGGLGAGYERALGGGSFGGLG 1.0 5.0 - - 4301_17:39023182-39023182 C>T_GSSMAGGLGAGYERALGGGSFGGLG 0.0 19:17769033-17769033 C>T 0.0 4287 COLORECTAL - - - - UNC13A NM_001080421,p.R202H|ENST00000551649,p.R202H|ENST00000252773,p.R202H|uc031rjv.1,p.R202H|ENST00000519716,p.R202H|ENST00000550896,p.R202H|ENST00000428389,p.R290H|ENST00000552293,p.R202H|uc031rjw.1,p.R202H retained_intron, protein_coding uc031rjw.1 nonsynonymous SNV exon9 c.G605A p.R202H PDSAVDDRDSDYRSETSNSIPPPYY PDSAVDDRDSDYHSETSNSIPPPYY 3.0 10.0 - - 4287_19:17769033-17769033 C>T_PDSAVDDRDSDYHSETSNSIPPPYY 0.0 7:141170371-141170371 G>T 1.0 4287 COLORECTAL - - - - TMEM178B ENST00000565468,p.A224S|NM_001195278,p.A224S|uc003vwg.2,p.A224S retained_intron, protein_coding uc003vwg.2 nonsynonymous SNV exon4 c.G670T p.A224S GTFCIISLCTCVAGINFELSRYPRY GTFCIISLCTCVSGINFELSRYPRY 4.0 10.0 - - 4287_7:141170371-141170371 G>T_GTFCIISLCTCVSGINFELSRYPRY 0.0 12:129563111-129563111 C>A 0.0 4326 BREAST - - - - TMEM132D uc009zyl.1,p.V695L|ENST00000422113,p.V695L|uc001uia.2,p.V233L|ENST00000389441,p.V233L|NM_133448,p.V695L protein_coding uc009zyl.1 nonsynonymous SNV exon8 c.G2083T p.V695L SPGSNRAIFATAVAQELLQRPKQEA SPGSNRAIFATALAQELLQRPKQEA 1.0 10.0 - - 4326_12:129563111-129563111 C>A_SPGSNRAIFATALAQELLQRPKQEA 0.0 7:2987357-2987357 C>A 0.0 4110 BILE DUCT - - - 1 CARD11 uc003smv.3,p.E24D|NM_032415,p.E24D|ENST00000356408,p.E24D|ENST00000396946,p.E24D retained_intron, protein_coding uc003smv.3 nonsynonymous SNV exon3 c.G72T p.E24D METLKDEEDALWENVECNRHMLSRY METLKDEEDALWDNVECNRHMLSRY 4.0 8.0 - - 4110_7:2987357-2987357 C>A_METLKDEEDALWDNVECNRHMLSRY 0.0 2:233243689-233243689 G>A 0.0 2591 MELANOMA - - - - ALPP NM_001632,p.E29K|uc002vsq.3,p.E29K|ENST00000392027,p.E29K retained_intron, protein_coding uc002vsq.3 nonsynonymous SNV exon2 c.G85A p.E29K LQLSLGIIPVEEENPDFWNREAAEA LQLSLGIIPVEEKNPDFWNREAAEA 1.0 9.0 - - 2591_2:233243689-233243689 G>A_LQLSLGIIPVEEKNPDFWNREAAEA 0.0 2:220471444-220471444 C>T 1.0 2556 MELANOMA - - - - STK11IP NM_052902,p.S344F|ENST00000456909,p.S333F|uc002vml.3,p.S344F|ENST00000295641,p.S344F|uc010zll.2,p.S301F|uc002vmm.1,p.S333F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010zll.2 nonsynonymous SNV exon11 c.C902T p.S301F KVLSLTDFQTHTSLGLSPMGPPLPW KVLSLTDFQTHTFLGLSPMGPPLPW 7.0 7.0 - - 2556_2:220471444-220471444 C>T_KVLSLTDFQTHTFLGLSPMGPPLPW 0.0 1:183556030-183556030 T>G 0.0 4246 COLORECTAL - - - - NCF2 uc001gqk.4,p.K86T|NM_001127651,p.K86T|NM_001190794,p.K86T|uc010pod.2,p.K86T|NM_001190789,p.K86T|ENST00000418089,p.K86T|uc010poe.2,p.K86T|ENST00000413720,p.K86T|uc001gqj.4,p.K86T|NM_000433,p.K86T|ENST00000367535,p.K86T|ENST00000367536,p.K86T protein_coding, processed_transcript uc010poe.2 nonsynonymous SNV exon2 c.A257C p.K86T YFQRGMLYYQTEKYDLAIKDLKEAL YFQRGMLYYQTETYDLAIKDLKEAL 7.0 2.0 - - 4246_1:183556030-183556030 T>G_YFQRGMLYYQTETYDLAIKDLKEAL 0.0 6:146480583-146480583 A>T 0.0 3919 MELANOMA - - - - GRM1 ENST00000361719,p.E267V|uc003qll.3,p.E267V|NM_001278065,p.E267V|uc011edz.2,p.E267V|ENST00000492807,p.E267V|ENST00000355289,p.E267V|ENST00000282753,p.E267V|uc010khv.2,p.E267V|uc010khw.2,p.E267V|uc011eea.2,p.E267V|uc010khu.1,p.E267V|NM_001278066,p.E267V|ENST00000392299,p.E267V|ENST00000507907,p.E267V|NM_001278064,p.E267V|NM_001278067,p.E267V retained_intron, protein_coding uc011eea.2 nonsynonymous SNV exon2 c.A800T p.E267V IAHSDKIYSNAGEKSFDRLLRKLRE IAHSDKIYSNAGVKSFDRLLRKLRE 1.0 7.0 - - 3919_6:146480583-146480583 A>T_IAHSDKIYSNAGVKSFDRLLRKLRE 0.0 11:4976077-4976077 T>G 0.0 4281 COLORECTAL - rs2570573 - - OR51A2 uc010qyt.2,p.K289N|ENST00000380371,p.K289N|NM_001004748,p.K289N protein_coding uc010qyt.2 nonsynonymous SNV exon1 c.A867C p.K289N MANVLLLVPPLMKPIVYCVKTKQIR MANVLLLVPPLMNPIVYCVKTKQIR 1.0 4.0 - - 4281_11:4976077-4976077 T>G_MANVLLLVPPLMNPIVYCVKTKQIR 0.0 13:111277546-111277546 T>G 1.0 4071 COLORECTAL - - - - CARKD ENST00000309957,p.L103V|uc010tjj.2,p.L85V|NM_018210,p.L103V|uc001vrc.3,p.L103V|NM_001242881,p.L103V|uc001vrb.3,p.L103V|NM_001242882,p.L85V protein_coding, processed_transcript uc010tjj.2 nonsynonymous SNV exon4 c.T253G p.L85V FAAISALKVGADLSHVFCASAAAPV FAAISALKVGADVSHVFCASAAAPV 7.0 3.0 - - 4071_13:111277546-111277546 T>G_FAAISALKVGADVSHVFCASAAAPV 0.0 2:180008467-180008467 C>A 1.0 4046 OVARIAN - - - - SESTD1 ENST00000426988,p.W41L|NM_178123,p.W234L|ENST00000428443,p.W234L|uc002uni.4,p.W234L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002uni.4 nonsynonymous SNV exon9 c.G701T p.W234L QRRFNGSDGGVSWSPMDDELLAQPQ QRRFNGSDGGVSLSPMDDELLAQPQ 7.0 8.0 - - 4046_2:180008467-180008467 C>A_QRRFNGSDGGVSLSPMDDELLAQPQ 0.0 1:36564855-36564855 G>A 0.0 4298 COLORECTAL - - - - COL8A2 NM_001294347,p.R78W|NM_005202,p.R143W|ENST00000303143,p.R143W|ENST00000397799,p.R143W|uc001bzv.2,p.R143W|uc001bzw.2,p.R78W|ENST00000481785,p.R78W protein_coding uc001bzw.2 nonsynonymous SNV exon2 c.C232T p.R78W PGKVGPPGQPGLRGEPGIRGDQGLR PGKVGPPGQPGLWGEPGIRGDQGLR 4.0 8.0 - - 4298_1:36564855-36564855 G>A_PGKVGPPGQPGLWGEPGIRGDQGLR 0.0 19:36278357-36278357 C>A 1.0 4317 COLORECTAL - - - - ARHGAP33 NM_001172630,p.P828T|ENST00000007510,p.P964T|uc002obs.2,p.P803T|ENST00000314737,p.P803T|uc002obt.2,p.P828T|ENST00000378944,p.P828T|uc002obv.1,p.P552T|NM_052948,p.P803T retained_intron, protein_coding, processed_transcript uc002obv.1 nonsynonymous SNV exon8 c.C1654A p.P552T PPNSLAHPGAWVPGPPPYLPRQQSD PPNSLAHPGAWVTGPPPYLPRQQSD 9.0 8.0 - - 4317_19:36278357-36278357 C>A_PPNSLAHPGAWVTGPPPYLPRQQSD 0.0 X:73960054-73960054 C>G 0.0 4213 COLORECTAL - - - - KIAA2022 ENST00000373468,p.K1446N|NM_001008537,p.K1446N|uc004eby.3,p.K1446N|ENST00000055682,p.K1446N protein_coding uc004eby.3 nonsynonymous SNV exon3 c.G4338C p.K1446N MSTLGNNGPTHKKLYRHKSSSKALR MSTLGNNGPTHKNLYRHKSSSKALR 3.0 5.0 - - 4213_X:73960054-73960054 C>G_MSTLGNNGPTHKNLYRHKSSSKALR 0.0 5:176024465-176024465 G>C 1.0 3466 MELANOMA - - - - GPRIN1 uc021yif.1,p.R791G|ENST00000303991,p.R791G|NM_052899,p.R791G|uc003meo.1,p.R791G protein_coding uc021yif.1 nonsynonymous SNV exon1 c.C2371G p.R791G PEAAAPPPGPRTRDNFTKAPSWEAS PEAAAPPPGPRTGDNFTKAPSWEAS 4.0 9.0 - - 3466_5:176024465-176024465 G>C_PEAAAPPPGPRTGDNFTKAPSWEAS 0.0 17:62290230-62290230 C>T 0.0 4126 NSCLC - - - - TEX2 ENST00000583097,p.A450T|ENST00000584379,p.A450T|NM_018469,p.A450T|NM_001288733,p.A450T|NM_001288732,p.A450T|uc002jec.3,p.A450T|uc002jed.3,p.A450T|ENST00000258991,p.A450T|uc002jee.3,p.A450T retained_intron, protein_coding, processed_transcript uc002jee.3 nonsynonymous SNV exon2 c.G1348A p.A450T KLSDIPLKPEVLAEDGVVLDSEDEV KLSDIPLKPEVLTEDGVVLDSEDEV 7.0 6.0 - - 4126_17:62290230-62290230 C>T_KLSDIPLKPEVLTEDGVVLDSEDEV 0.0 11:35211573-35211573 C>T 1.0 3879 MELANOMA - - - - CD44 NM_000610,p.P210S|uc001mvv.3,p.P210S|ENST00000525688,p.P49S|ENST00000434472,p.P210S|NM_001202557,p.P210S|uc001mvu.3,p.P210S|ENST00000531110,p.P84S|ENST00000428726,p.P210S|ENST00000449691,p.P210S|ENST00000263398,p.P210S|NM_001001391,p.P210S|uc021qfw.1,p.P210S|ENST00000433354,p.P210S|ENST00000360158,p.P210S|ENST00000415148,p.P210S|uc001mwc.4,p.P210S|ENST00000433892,p.P210S|uc010rer.2,p.P210S|NM_001001389,p.P210S|NM_001202555,p.P210S|NM_001202556,p.P210S|ENST00000352818,p.P210S|uc001mvx.3,p.P210S|uc001mvw.3,p.P210S|ENST00000533222,p.P43S|ENST00000437706,p.P210S|NM_001001390,p.P210S|ENST00000278385,p.P46S|ENST00000525211,p.P189S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021qfw.1 nonsynonymous SNV exon5 c.C628T p.P210S FSTVHPIPDEDSPWITDSTDRIPAT FSTVHPIPDEDSSWITDSTDRIPAT 10.0 9.0 - - 3879_11:35211573-35211573 C>T_FSTVHPIPDEDSSWITDSTDRIPAT 0.0 13:60686294-60686294 A>C 1.0 3713 MELANOMA - - - - DIAPH3 ENST00000400330,p.I80M|ENST00000400324,p.I80M|uc001vht.4,p.I80M|NM_001042517,p.I80M|ENST00000267215,p.I80M|uc031qlw.1,p.I80M|NM_001258369,p.I80M protein_coding, processed_transcript uc031qlw.1 nonsynonymous SNV exon3 c.T240G p.I80M TDDMLDKFASIRIPGSKKERPPLPN TDDMLDKFASIRMPGSKKERPPLPN 2.0 4.0 - - 3713_13:60686294-60686294 A>C_TDDMLDKFASIRMPGSKKERPPLPN 0.0 4:4861982-4861982 C>T 0.0 4240 BREAST - - - - MSX1 ENST00000382723,p.S119L|uc003gif.3,p.S119L|NM_002448,p.S119L protein_coding uc003gif.3 nonsynonymous SNV exon1 c.C356T p.S119L DAPSSPRPLGHFSVGGLLKLPEDAL DAPSSPRPLGHFLVGGLLKLPEDAL 6.0 8.0 - - 4240_4:4861982-4861982 C>T_DAPSSPRPLGHFLVGGLLKLPEDAL 0.0 17:33331306-33331306 C>G 1.0 4240 BREAST - - - - LIG3 uc002hik.2,p.I937M|NM_013975,p.I937M|ENST00000378526,p.I937M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002hik.2 nonsynonymous SNV exon20 c.C2811G p.I937M DETLCQTKVLLDIFTGVRLYLPPST DETLCQTKVLLDMFTGVRLYLPPST 9.0 8.0 - - 4240_17:33331306-33331306 C>G_DETLCQTKVLLDMFTGVRLYLPPST 0.0 1:204970369-204970369 C>T 0.0 4266 COLORECTAL - - - - NFASC NM_001005388,p.H1031Y|ENST00000367170,p.H1059Y|ENST00000367172,p.H1138Y|ENST00000367171,p.H1123Y|ENST00000339876,p.H1031Y|ENST00000401399,p.H1031Y|uc001hbj.3,p.H1031Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001hbj.3 nonsynonymous SNV exon26 c.C3091T p.H1031Y LPNSKWANITWKHNFGPGTDFVVEY LPNSKWANITWKYNFGPGTDFVVEY 6.0 7.0 - - 4266_1:204970369-204970369 C>T_LPNSKWANITWKYNFGPGTDFVVEY 0.0 11:85375534-85375534 G>A 0.0 3466 MELANOMA - - - - CREBZF ENST00000525639,p.P129L|ENST00000527447,p.P129L|ENST00000490820,p.P129L|ENST00000398294,p.P47L|uc001pas.2,p.P129L|ENST00000260058,p.P55L|NM_001039618,p.P129L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001pas.2 nonsynonymous SNV exon1 c.C386T p.P129L DWHLDPGLSSPGPLSSSGGGSDSGG DWHLDPGLSSPGLLSSSGGGSDSGG 10.0 2.0 - - 3466_11:85375534-85375534 G>A_DWHLDPGLSSPGLLSSSGGGSDSGG 0.0 1:47016746-47016746 C>T 0.0 4046 OVARIAN - - - - KNCN NM_001097611,p.A48T|ENST00000396314,p.A48T|uc009vyh.1,p.A48T retained_intron, protein_coding, processed_transcript uc009vyh.1 nonsynonymous SNV exon1 c.G142A p.A48T AAAAMGGVFIGAAVLGSLRIHPHPG AAAAMGGVFIGATVLGSLRIHPHPG 3.0 5.0 - - 4046_1:47016746-47016746 C>T_AAAAMGGVFIGATVLGSLRIHPHPG 0.0 14:70633747-70633747 A>T 0.0 4284 COLORECTAL - - - - SLC8A3 ENST00000356921,p.S465T|uc001xlz.3,p.S465T|uc001xly.3,p.S465T|ENST00000494208,p.S465T|ENST00000381269,p.S465T|ENST00000528359,p.S465T|uc001xlw.3,p.S465T|NM_183002,p.S465T|uc001xlx.3,p.S465T|NM_182932,p.S465T|NM_058240,p.S465T|ENST00000534137,p.S465T|NM_033262,p.S465T|ENST00000357887,p.S465T protein_coding, processed_transcript, nonsense_mediated_decay uc001xlz.3 nonsynonymous SNV exon2 c.T1393A p.S465T VVLKPGETQKEFSVGIIDDDIFEED VVLKPGETQKEFTVGIIDDDIFEED 4.0 4.0 - - 4284_14:70633747-70633747 A>T_VVLKPGETQKEFTVGIIDDDIFEED 0.0 17:2577445-2577445 G>T 1.0 4126 NSCLC - - - - PAFAH1B1 ENST00000574468,p.D87Y|ENST00000397195,p.D255Y|NM_000430,p.D255Y|ENST00000451360,p.D84Y|uc010vqz.2,p.D84Y|uc002fuw.4,p.D255Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vqz.2 nonsynonymous SNV exon3 c.G250T p.D84Y NQDGTLIASCSNDQTVRVWVVATKE NQDGTLIASCSNYQTVRVWVVATKE 10.0 4.0 - - 4126_17:2577445-2577445 G>T_NQDGTLIASCSNYQTVRVWVVATKE 0.0 6:136687151-136687151 G>A 0.0 4155 MELANOMA 0.0009 - - - MAP7 NM_001198608,p.P354L|uc011edh.2,p.P317L|uc010kgq.2,p.P238L|NM_001198619,p.P186L|NM_001198611,p.P317L|ENST00000432797,p.P186L|ENST00000454590,p.P354L|uc010kgu.3,p.P354L|uc003qgz.3,p.P332L|uc010kgr.2,p.P186L|uc011edf.2,p.P317L|uc010kgv.3,p.P354L|NM_003980,p.P332L|uc011edi.2,p.P186L|ENST00000354570,p.P332L|NM_001198618,p.P186L|uc011edg.2,p.P362L|NM_001198615,p.P317L|NM_001198617,p.P238L|NM_001198609,p.P362L|ENST00000438100,p.P317L|ENST00000544465,p.P317L|uc010kgs.3,p.P186L|NM_001198614,p.P354L|uc003qha.2,p.P295L|NM_001198616,p.P295L protein_coding uc011edi.2 nonsynonymous SNV exon10 c.C557T p.P186L KARQPARSRLWLPSKSLPHLPGTPR KARQPARSRLWLLSKSLPHLPGTPR 3.0 5.0 - - 4155_6:136687151-136687151 G>A_KARQPARSRLWLLSKSLPHLPGTPR 0.0 12:29911653-29911653 A>T 0.0 4110 BILE DUCT - - - - TMTC1 NM_001193451,p.F180I|ENST00000539277,p.F180I|ENST00000551659,p.F180I|uc001rjc.1,p.F72I|ENST00000381224,p.F72I|ENST00000256062,p.F72I|NM_175861,p.F72I|ENST00000552618,p.F180I|uc001rjb.3,p.F72I|uc021qwi.1,p.F180I retained_intron, protein_coding, processed_transcript uc021qwi.1 nonsynonymous SNV exon3 c.T538A p.F180I ADVLACLLFLLAFLSYNRSLDQGCV ADVLACLLFLLAILSYNRSLDQGCV 4.0 9.0 - - 4110_12:29911653-29911653 A>T_ADVLACLLFLLAILSYNRSLDQGCV 0.0 7:100636291-100636291 C>A 1.0 4287 COLORECTAL - - - - MUC12 uc003uxo.3,p.T816K|ENST00000379442,p.T959K|NM_001164462,p.T816K|ENST00000536621,p.T816K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003uxo.3 nonsynonymous SNV exon2 c.C2447A p.T816K SMETTALPGSTTTPGLSERSTTFHS SMETTALPGSTTKPGLSERSTTFHS 9.0 10.0 - - 4287_7:100636291-100636291 C>A_SMETTALPGSTTKPGLSERSTTFHS 0.0 6:52993392-52993392 A>C 1.0 4252 COLORECTAL - - - - GCM1 ENST00000259803,p.L308R|NM_003643,p.L308R|uc003pbp.3,p.L308R protein_coding uc003pbp.3 nonsynonymous SNV exon6 c.T923G p.L308R AWSKNAALGRNHLADNCYSNYPFPL AWSKNAALGRNHRADNCYSNYPFPL 4.0 3.0 - - 4252_6:52993392-52993392 A>C_AWSKNAALGRNHRADNCYSNYPFPL 0.0 7:138968739-138968739 C>T 1.0 4000 MELANOMA - - ID=COSM3735766,COSM3735767;OCCURENCE=1(skin) - UBN2 ENST00000288561,p.P947S|ENST00000473989,p.P1030S|NM_173569,p.P1030S|uc011kqr.2,p.P1030S protein_coding uc011kqr.2 nonsynonymous SNV exon15 c.C3088T p.P1030S MVSQISTQGFKSPFSMAASPKLAAS MVSQISTQGFKSSFSMAASPKLAAS 8.0 2.0 - - 4000_7:138968739-138968739 C>T_MVSQISTQGFKSSFSMAASPKLAAS 0.0 3:113098349-113098349 T>A 1.0 4160 COLORECTAL - - - - CFAP44 uc003eae.2,p.K701I|uc003ead.2,p.K701I|ENST00000295868,p.K701I|ENST00000393845,p.K701I|NM_001164496,p.K701I|NM_018338,p.K701I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003eae.2 nonsynonymous SNV exon17 c.A2102T p.K701I IEKRERQRELKEKIREERRNKLAAE IEKRERQRELKEIIREERRNKLAAE 6.0 7.0 - - 4160_3:113098349-113098349 T>A_IEKRERQRELKEIIREERRNKLAAE 0.0 9:140611572-140611572 C>T 1.0 3713 MELANOMA - - - - EHMT1 uc004coa.3,p.P194S|ENST00000334856,p.P163S|uc004cob.1,p.P163S|ENST00000462484,p.P194S|NM_024757,p.P194S|NM_001145527,p.P194S|ENST00000460843,p.P194S|uc011mfc.2,p.P194S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011mfc.2 nonsynonymous SNV exon3 c.C580T p.P194S GSADTEDRKLPAPGADVKVHRARKT GSADTEDRKLPASGADVKVHRARKT 8.0 4.0 - - 3713_9:140611572-140611572 C>T_GSADTEDRKLPASGADVKVHRARKT 0.0 12:49227067-49227067 T>C 1.0 4180 BREAST - - - - DDX23 NM_004818,p.Y599C|ENST00000308025,p.Y599C|uc001rsm.3,p.Y599C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001rsm.3 nonsynonymous SNV exon13 c.A1796G p.Y599C KMLANFESGKHKYRQTVMFTATMPP KMLANFESGKHKCRQTVMFTATMPP 10.0 8.0 - - 4180_12:49227067-49227067 T>C_KMLANFESGKHKCRQTVMFTATMPP 0.0 10:94679770-94679770 C>T 1.0 3903 MELANOMA - - - - EXOC6 uc001kig.3,p.S284F|ENST00000371552,p.S279F|uc001kie.3,p.S279F|uc009xub.3,p.S284F|ENST00000260762,p.S284F|NM_019053,p.S284F|uc010qnr.2,p.S300F|NM_001013848,p.S279F|ENST00000371547,p.S300F protein_coding, processed_transcript, nonsense_mediated_decay uc010qnr.2 nonsynonymous SNV exon9 c.C899T p.S300F EEILTVQDLVDFSPVYRCLHIYSVL EEILTVQDLVDFFPVYRCLHIYSVL 8.0 7.0 - - 3903_10:94679770-94679770 C>T_EEILTVQDLVDFFPVYRCLHIYSVL 0.0 13:36686031-36686031 C>T 0.0 4287 COLORECTAL - - ID=COSM1366636,COSM1366635;OCCURENCE=1(large_intestine) - DCLK1 uc001uvf.3,p.R233H|NM_004734,p.R233H|ENST00000255448,p.R233H|ENST00000360631,p.R233H|ENST00000379892,p.R233H protein_coding, processed_transcript uc001uvf.3 nonsynonymous SNV exon3 c.G698A p.R233H TDAIKLDSGVVKRLYTLDGKQVMCL TDAIKLDSGVVKHLYTLDGKQVMCL 4.0 8.0 - - 4287_13:36686031-36686031 C>T_TDAIKLDSGVVKHLYTLDGKQVMCL 0.0 6:148835494-148835494 C>T 0.0 4245 COLORECTAL - - - - SASH1 uc003qme.1,p.S255L|NM_015278,p.S255L|ENST00000367467,p.S255L protein_coding, processed_transcript uc003qme.1 nonsynonymous SNV exon9 c.C764T p.S255L NSREQSDDETEESVKFKRLHKLVNS NSREQSDDETEELVKFKRLHKLVNS 6.0 8.0 - - 4245_6:148835494-148835494 C>T_NSREQSDDETEELVKFKRLHKLVNS 0.0 19:1440056-1440056 G>A 1.0 4158 COLORECTAL - - - - RPS15 uc002lsp.1,p.R43Q|ENST00000586686,p.R43Q|ENST00000593052,p.R50Q|NM_001018,p.R43Q|ENST00000586096,p.R43Q|ENST00000589656,p.R43Q|ENST00000233609,p.R16Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002lsp.1 nonsynonymous SNV exon3 c.G128A p.R43Q EQLMQLYSARQRRRLNRGLRRKQHS EQLMQLYSARQRQRLNRGLRRKQHS 10.0 4.0 CD8 - 4158_19:1440056-1440056 G>A_EQLMQLYSARQRQRLNRGLRRKQHS 2.0 12:49443499-49443499 C>T 1.0 4252 COLORECTAL - - - 1 KMT2D uc001rta.4,p.R1291Q|NM_003482,p.R1291Q|ENST00000301067,p.R1291Q retained_intron, protein_coding, processed_transcript uc001rta.4 nonsynonymous SNV exon11 c.G3872A p.R1291Q ISGGKAEGEKGRRRSSPARSRIKQG ISGGKAEGEKGRQRSSPARSRIKQG 8.0 9.0 - - 4252_12:49443499-49443499 C>T_ISGGKAEGEKGRQRSSPARSRIKQG 0.0 2:136872909-136872909 C>T 1.0 4346 COLORECTAL - - - 1 CXCR4 uc002tuy.3,p.V201I|uc010fnk.3,p.V182I|ENST00000409817,p.V201I|ENST00000241393,p.V197I|uc002tuz.3,p.V197I|NM_003467,p.V197I|NM_001008540,p.V201I protein_coding, processed_transcript uc010fnk.3 nonsynonymous SNV exon2 c.G544A p.V182I ICDRFYPNDLWVVVFQFQHIMVGLI ICDRFYPNDLWVIVFQFQHIMVGLI 8.0 8.0 - - 4346_2:136872909-136872909 C>T_ICDRFYPNDLWVIVFQFQHIMVGLI 0.0 8:124154517-124154517 T>G 0.0 4320 COLORECTAL - - ID=COSM1454622;OCCURENCE=1(large_intestine) - TBC1D31 uc011lih.2,p.L776V|ENST00000518805,p.L440V|ENST00000522420,p.L781V|ENST00000287380,p.L886V|uc003ypp.2,p.L886V|ENST00000521676,p.L763V|uc003yps.2,p.L520V|NM_145647,p.L886V retained_intron, protein_coding, nonsense_mediated_decay uc011lih.2 nonsynonymous SNV exon18 c.T2326G p.L776V QSQKTQKVIKENLAKAEQACLNTDW QSQKTQKVIKENVAKAEQACLNTDW 6.0 1.0 - - 4320_8:124154517-124154517 T>G_QSQKTQKVIKENVAKAEQACLNTDW 0.0 3:65342775-65342775 C>T 1.0 4329 COLORECTAL - - - - MAGI1 uc003dmn.3,p.G1223S|ENST00000402939,p.G1223S|NM_001033057,p.G1223S retained_intron, protein_coding, processed_transcript uc003dmn.3 nonsynonymous SNV exon23 c.G3667A p.G1223S YDPSSDRHGPATGPQGVPEVRAGPD YDPSSDRHGPATSPQGVPEVRAGPD 10.0 7.0 - - 4329_3:65342775-65342775 C>T_YDPSSDRHGPATSPQGVPEVRAGPD 0.0 6:109978032-109978032 C>T 1.0 3903 MELANOMA - - - - AK9 uc003ptn.2,p.R229K|NM_001145128,p.R229K|ENST00000532976,p.R229K|ENST00000368948,p.R229K|ENST00000424296,p.R229K|NM_145025,p.R229K|ENST00000285397,p.R229K|ENST00000448084,p.R152K|uc003ptr.4,p.R229K retained_intron, protein_coding uc003ptr.4 nonsynonymous SNV exon8 c.G686A p.R229K QMVAEILHHLVQRPEDYLENVENIV QMVAEILHHLVQKPEDYLENVENIV 4.0 10.0 - - 3903_6:109978032-109978032 C>T_QMVAEILHHLVQKPEDYLENVENIV 0.0 13:33680924-33680924 T>G 0.0 4078 GASTRIC - - - - STARD13 NM_052851,p.R947S|uc001uuv.3,p.R947S|ENST00000255486,p.R1057S|uc001uuw.3,p.R1065S|NM_178006,p.R1065S|NM_178007,p.R1057S|uc001uuu.3,p.R1057S|ENST00000336934,p.R1065S|NM_001243476,p.R1030S|uc001uux.3,p.R1030S|ENST00000399365,p.R947S protein_coding, processed_transcript uc001uux.3 nonsynonymous SNV exon17 c.A3090C p.R1030S QYLIEPCGSGKSRLTHICRIDLKGH QYLIEPCGSGKSSLTHICRIDLKGH 7.0 6.0 - - 4078_13:33680924-33680924 T>G_QYLIEPCGSGKSSLTHICRIDLKGH 0.0 6:108831428-108831428 G>A 0.0 4335 COLORECTAL - - - - LACE1 ENST00000368977,p.S359N|uc003psj.3,p.S359N|NM_145315,p.S359N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003psj.3 nonsynonymous SNV exon11 c.G1076A p.S359N TFEELCERPLGASDYLELSKNFDTI TFEELCERPLGANDYLELSKNFDTI 6.0 8.0 - - 4335_6:108831428-108831428 G>A_TFEELCERPLGANDYLELSKNFDTI 0.0 20:61512461-61512461 G>C 0.0 4240 BREAST - - - - DIDO1 uc002ydr.2,p.S1616C|uc002yds.2,p.S1616C|ENST00000395343,p.S1616C|NM_033081,p.S1616C|NM_001193369,p.S1616C|ENST00000266070,p.S1616C protein_coding uc002yds.2 nonsynonymous SNV exon16 c.C4847G p.S1616C APMPVPEEKEPASSPWASGEKPPAG APMPVPEEKEPACSPWASGEKPPAG 10.0 4.0 - - 4240_20:61512461-61512461 G>C_APMPVPEEKEPACSPWASGEKPPAG 0.0 8:139165045-139165045 G>T 0.0 4213 COLORECTAL - - ID=COSM317311,COSM317310;OCCURENCE=1(lung) 2 FAM135B uc003yux.3,p.S459Y|ENST00000395297,p.S558Y|NM_015912,p.S558Y|uc003yvb.3,p.S120Y|uc003yuy.3,p.S558Y|uc003yva.3,p.S120Y|ENST00000276737,p.S558Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003yvb.3 nonsynonymous SNV exon1 c.C359A p.S120Y GQAPVLTYIDVKSSNKNPSRAEPLV GQAPVLTYIDVKYSNKNPSRAEPLV 2.0 4.0 - - 4213_8:139165045-139165045 G>T_GQAPVLTYIDVKYSNKNPSRAEPLV 0.0 X:71932757-71932757 G>A 1.0 3903 MELANOMA - - - - PHKA1 uc004eax.4,p.P34L|ENST00000541944,p.P34L|uc011mqi.2,p.P34L|ENST00000373542,p.P34L|NM_001172436,p.P34L|ENST00000339490,p.P34L|uc004eay.4,p.P34L|ENST00000373545,p.P34L|NM_002637,p.P34L|ENST00000373539,p.P34L|NM_001122670,p.P34L protein_coding uc011mqi.2 nonsynonymous SNV exon2 c.C101T p.P34L ILCHQNPVTGLLPASYDQKDAWVRD ILCHQNPVTGLLLASYDQKDAWVRD 5.0 10.0 CD8 - 3903_X:71932757-71932757 G>A_ILCHQNPVTGLLLASYDQKDAWVRD 1.0 19:12826110-12826110 A>G 1.0 3466 MELANOMA - - - - TNPO2 NM_001136195,p.F199L|ENST00000588216,p.F199L|ENST00000441499,p.F199L|NM_001136196,p.F199L|ENST00000585886,p.F199L|ENST00000356861,p.F199L|uc002muq.3,p.F199L|uc002muo.3,p.F199L|NM_013433,p.F199L|uc002mup.3,p.F291L|ENST00000592287,p.F199L|uc002mur.3,p.F199L|ENST00000450764,p.F199L|ENST00000425528,p.F199L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay uc002mur.3 nonsynonymous SNV exon8 c.T595C p.F199L KIRSHAIACVNQFIMDRAQALMDNI KIRSHAIACVNQLIMDRAQALMDNI 9.0 8.0 - - 3466_19:12826110-12826110 A>G_KIRSHAIACVNQLIMDRAQALMDNI 0.0 1:40098352-40098352 G>C 1.0 4189 MELANOMA - - - - HEYL ENST00000372852,p.S39W protein_coding ENST00000372852 nonsynonymous SNV exon2 c.C116G p.S39W SQMARPLSTPSSSQMQARKKHRGII SQMARPLSTPSSWQMQARKKHRGII 5.0 8.0 - - 4189_1:40098352-40098352 G>C_SQMARPLSTPSSWQMQARKKHRGII 0.0 11:57004439-57004439 C>A 0.0 4077 BILE DUCT - - - - APLNR ENST00000257254,p.D14Y|ENST00000606794,p.D14Y|NM_005161,p.D14Y|uc001njo.3,p.D14Y protein_coding uc001njo.3 nonsynonymous SNV exon1 c.G40T p.D14Y EEGGDFDNYYGADNQSECEYTDWKS EEGGDFDNYYGAYNQSECEYTDWKS 4.0 9.0 - - 4077_11:57004439-57004439 C>A_EEGGDFDNYYGAYNQSECEYTDWKS 0.0 2:56145148-56145148 C>T 1.0 3713 MELANOMA - - - - EFEMP1 NM_001039349,p.G57S|ENST00000429909,p.G57S|ENST00000394555,p.G57S|ENST00000440439,p.G57S|NM_001039348,p.G57S|ENST00000394554,p.G57S|uc002rzi.3,p.G57S|ENST00000439193,p.G57S|uc002rzj.3,p.G57S|ENST00000438672,p.G57S|ENST00000355426,p.G57S retained_intron, protein_coding, processed_transcript uc002rzj.3 nonsynonymous SNV exon4 c.G169A p.G57S IDECDIVPDACKGGMKCVNHYGGYL IDECDIVPDACKSGMKCVNHYGGYL 6.0 5.0 - - 3713_2:56145148-56145148 C>T_IDECDIVPDACKSGMKCVNHYGGYL 0.0 1:156669849-156669849 A>T 0.0 4335 COLORECTAL - - - - CRABP2 ENST00000368221,p.V129D|uc021pbi.1,p.V129D|NM_001199723,p.V129D|uc001fpr.3,p.V129D|NM_001878,p.V129D|ENST00000368222,p.V129D protein_coding uc021pbi.1 nonsynonymous SNV exon5 c.T386A p.V129D DGELILTMTADDVVCTRVYVRE DGELILTMTADDDVCTRVYVRE 6.0 2.0 - - 4335_1:156669849-156669849 A>T_DGELILTMTADDDVCTRVYVRE 0.0 16:11362878-11362878 C>T 0.0 4238 COLORECTAL - - - - TNP2 uc002das.3,p.R81H|ENST00000312693,p.R81H|NM_005425,p.R81H retained_intron, protein_coding uc002das.3 nonsynonymous SNV exon1 c.G242A p.R81H QSQSPNTSPPPKRHKKTMNSHHSPM QSQSPNTSPPPKHHKKTMNSHHSPM 1.0 2.0 - - 4238_16:11362878-11362878 C>T_QSQSPNTSPPPKHHKKTMNSHHSPM 0.0 10:38241783-38241783 G>A 1.0 3784 MELANOMA - - - - ZNF25 uc001ize.1,p.P215S|uc001izf.1,p.P179S|ENST00000302609,p.P215S|NM_145011,p.P215S protein_coding, processed_transcript uc001izf.1 nonsynonymous SNV exon7 c.C535T p.P179S ECNQCEKSFYQKPHLTEHQKTHTGE ECNQCEKSFYQKSHLTEHQKTHTGE 6.0 4.0 - - 3784_10:38241783-38241783 G>A_ECNQCEKSFYQKSHLTEHQKTHTGE 0.0 21:34399432-34399432 T>G 0.0 4158 COLORECTAL - - - 1 OLIG2 uc002yqx.2,p.S88A|ENST00000333337,p.S88A|uc021wil.1,p.S88A|NM_005806,p.S88A|ENST00000382357,p.S88A protein_coding uc021wil.1 nonsynonymous SNV exon1 c.T262G p.S88A KSSSSSTSSSTSSAAASSTKKDKKQ KSSSSSTSSSTSAAAASSTKKDKKQ 2.0 4.0 - - 4158_21:34399432-34399432 T>G_KSSSSSTSSSTSAAAASSTKKDKKQ 0.0 15:50782488-50782488 G>A 1.0 4158 COLORECTAL - - - 1 USP8 uc010ufh.2,p.R561H|NM_001283049,p.R561H|NM_005154,p.R667H|ENST00000425032,p.R561H|uc001zyn.4,p.R667H|uc001zym.4,p.R667H|uc001zyl.4,p.R667H|ENST00000433963,p.R667H|ENST00000307179,p.R667H|NM_001128610,p.R667H|ENST00000396444,p.R667H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay uc010ufh.2 nonsynonymous SNV exon11 c.G1682A p.R561H WAKFLDPITGTFRYYHSPTNTVHMY WAKFLDPITGTFHYYHSPTNTVHMY 10.0 6.0 CD8 - 4158_15:50782488-50782488 G>A_WAKFLDPITGTFHYYHSPTNTVHMY 2.0 2:128750881-128750881 G>A 1.0 3795 MELANOMA - - - - SAP130 ENST00000357702,p.P479S|uc002tpq.1,p.P452S|NM_024545,p.P479S|NM_001145928,p.P479S|ENST00000259235,p.P479S|uc002tpp.2,p.P479S|ENST00000259234,p.P453S|uc010fmd.2,p.P479S|uc002tpn.2,p.P240S protein_coding uc010fmd.2 nonsynonymous SNV exon12 c.C1435T p.P479S NPVAMETRSDNRPSVPVQFQYFLPT NPVAMETRSDNRSSVPVQFQYFLPT 7.0 4.0 - - 3795_2:128750881-128750881 G>A_NPVAMETRSDNRSSVPVQFQYFLPT 0.0 20:30584991-30584991 G>A 0.0 2359 MELANOMA - - - - XKR7 ENST00000217299,p.E491K|NM_001011718,p.E491K|uc002wxe.3,p.E491K protein_coding uc002wxe.3 nonsynonymous SNV exon3 c.G1471A p.E491K TTGAERDGASAGERAGTPTPPVFQV TTGAERDGASAGKRAGTPTPPVFQV 1.0 5.0 - - 2359_20:30584991-30584991 G>A_TTGAERDGASAGKRAGTPTPPVFQV 0.0 16:1392991-1392991 C>G 1.0 4281 COLORECTAL - - - - BAIAP3 NM_001199099,p.N385K|ENST00000568887,p.N385K|uc002clk.2,p.N448K|ENST00000397489,p.N430K|NM_001199097,p.N413K|NM_003933,p.N448K|uc002clj.3,p.N430K|ENST00000562208,p.N390K|ENST00000421665,p.N377K|uc010uva.2,p.N385K|NM_001199098,p.N390K|uc021tag.1,p.N390K|ENST00000397488,p.N430K|NM_001199096,p.N377K|ENST00000324385,p.N448K|NM_001286464,p.N430K|uc010uvc.1,p.N377K|ENST00000426824,p.N413K|uc010uuz.2,p.N413K retained_intron, protein_coding, processed_transcript uc021tag.1 nonsynonymous SNV exon14 c.C1170G p.N390K AATILCLHGAQSNLSPLQLAVLHWQ AATILCLHGAQSKLSPLQLAVLHWQ 7.0 7.0 - - 4281_16:1392991-1392991 C>G_AATILCLHGAQSKLSPLQLAVLHWQ 0.0 14:78392237-78392237 T>C 1.0 3879 MELANOMA - - - - ADCK1 ENST00000341211,p.M312T|uc001xuj.3,p.M312T|NM_020421,p.M380T|NM_001142545,p.M312T|uc001xul.3,p.M87T|ENST00000238561,p.M380T|uc001xui.3,p.M380T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001xul.3 nonsynonymous SNV exon2 c.T260C p.M87T LGAGDLYPLFACMLTARSWDSVNRG LGAGDLYPLFACTLTARSWDSVNRG 5.0 5.0 - - 3879_14:78392237-78392237 T>C_LGAGDLYPLFACTLTARSWDSVNRG 0.0 20:44581151-44581151 C>A 0.0 4186 BREAST - - - - ZNF335 uc002xqw.3,p.D942Y|ENST00000426788,p.D787Y|uc010zxk.2,p.D787Y|ENST00000322927,p.D942Y|NM_022095,p.D942Y|uc002xqv.3,p.D54Y protein_coding, processed_transcript uc010zxk.2 nonsynonymous SNV exon17 c.G2359T p.D787Y DGTQLHHIELTADGSISFPSPDALA DGTQLHHIELTAYGSISFPSPDALA 5.0 6.0 - - 4186_20:44581151-44581151 C>A_DGTQLHHIELTAYGSISFPSPDALA 0.0 8:72156896-72156896 C>T 0.0 4326 BREAST 0.0005 - ID=COSM1458102;OCCURENCE=1(large_intestine) - EYA1 ENST00000340726,p.R361Q|uc003xyu.3,p.R361Q|NM_172058,p.R361Q|uc011lfe.2,p.R355Q|uc003xyv.3,p.R239Q|NM_001288575,p.R239Q|NM_001288574,p.R355Q|ENST00000388743,p.R360Q|uc010lzf.3,p.R288Q|ENST00000388740,p.R328Q|ENST00000303824,p.R355Q|ENST00000388741,p.R327Q|uc003xyt.4,p.R328Q|NM_172060,p.R328Q|NM_000503,p.R361Q|uc003xys.4,p.R361Q|ENST00000388742,p.R361Q retained_intron, protein_coding, nonsense_mediated_decay uc011lfe.2 nonsynonymous SNV exon12 c.G1064A p.R355Q GRDPPTSVSLGLRMEEMIFNLADTH GRDPPTSVSLGLQMEEMIFNLADTH 3.0 9.0 - - 4326_8:72156896-72156896 C>T_GRDPPTSVSLGLQMEEMIFNLADTH 0.0 6:33424102-33424102 C>T 1.0 3784 MELANOMA - - - - ZBTB9 ENST00000395064,p.R409W|NM_152735,p.R409W|uc021ywp.1,p.R409W|uc003oeq.3,p.R409W protein_coding, processed_transcript uc021ywp.1 nonsynonymous SNV exon1 c.C1225T p.R409W KRDRHIMLTFSLRPFGCGICNKRFK KRDRHIMLTFSLWPFGCGICNKRFK 6.0 2.0 - - 3784_6:33424102-33424102 C>T_KRDRHIMLTFSLWPFGCGICNKRFK 0.0 8:123966232-123966232 G>A 0.0 4345 COLORECTAL - - - - ZHX2 uc003ypk.1,p.D828N|ENST00000314393,p.D828N|uc022bag.1,p.D828N|NM_014943,p.D828N protein_coding uc022bag.1 nonsynonymous SNV exon1 c.G2482A p.D828N AEGVSELAESDSDCVPAEAGQA AEGVSELAESDSNCVPAEAGQA 5.0 10.0 - - 4345_8:123966232-123966232 G>A_AEGVSELAESDSNCVPAEAGQA 0.0 1:70715707-70715707 G>T 1.0 4245 COLORECTAL - - - - SRSF11 uc001dev.3,p.L175F|ENST00000370949,p.L305F|ENST00000370950,p.L365F|uc001deu.2,p.L372F|NM_001190987,p.L365F|NM_004768,p.L365F|ENST00000405432,p.L365F|ENST00000395136,p.L372F|ENST00000370951,p.L365F|uc001det.3,p.L365F|uc001des.3,p.L365F protein_coding, processed_transcript uc001dev.3 nonsynonymous SNV exon9 c.G525T p.L175F RSPKKPRSPKRKLSRSPSPRRHKKE RSPKKPRSPKRKFSRSPSPRRHKKE 10.0 8.0 - - 4245_1:70715707-70715707 G>T_RSPKKPRSPKRKFSRSPSPRRHKKE 0.0 6:45332945-45332945 T>A 1.0 4287 COLORECTAL - - - - SUPT3H NM_003599,p.S32C|ENST00000306867,p.S32C|uc003oxp.4,p.S32C|ENST00000371459,p.S32C|uc003oxn.2,p.S32C|ENST00000475057,p.S32C protein_coding, processed_transcript, nonsense_mediated_decay uc003oxp.4 nonsynonymous SNV exon2 c.A94T p.S32C TGKSISFATELQSMMYSLGDARRPL TGKSISFATELQCMMYSLGDARRPL 8.0 3.0 CD8 - 4287_6:45332945-45332945 T>A_TGKSISFATELQCMMYSLGDARRPL 1.0 3:100170756-100170756 G>A 0.0 4246 COLORECTAL - - ID=COSM1035617;OCCURENCE=1(endometrium) - LNP1 uc003dtx.4,p.R117Q|ENST00000383693,p.R117Q|ENST00000489752,p.R130Q|NM_001085451,p.R117Q protein_coding, nonsense_mediated_decay uc003dtx.4 nonsynonymous SNV exon3 c.G350A p.R117Q HSKIEKFSESFERQLCFRTKRSASL HSKIEKFSESFEQQLCFRTKRSASL 5.0 5.0 - - 4246_3:100170756-100170756 G>A_HSKIEKFSESFEQQLCFRTKRSASL 0.0 4:54930446-54930446 A>C 1.0 4335 COLORECTAL - - - 2 CHIC2 uc003haj.2,p.Y8D|ENST00000512964,p.Y8D|NM_012110,p.Y8D|ENST00000263921,p.Y8D retained_intron, protein_coding uc003haj.2 nonsynonymous SNV exon1 c.T22G p.Y8D MADFDEIYEEEEDEERALEE MADFDEIDEEEEDEERALEE 7.0 6.0 - - 4335_4:54930446-54930446 A>C_MADFDEIDEEEEDEERALEE 0.0 21:43239986-43239986 G>A 1.0 4320 COLORECTAL - - - - PRDM15 uc002yzr.1,p.R795C|ENST00000433067,p.R1104C|ENST00000447207,p.R738C|ENST00000398548,p.R775C|NM_001282934,p.R795C|ENST00000422911,p.R795C|uc002yzq.1,p.R1104C|NM_001040424,p.R775C|uc002yzo.3,p.R775C|ENST00000538201,p.R758C|ENST00000269844,p.R1104C|uc002yzp.3,p.R795C|ENST00000447016,p.R738C|NM_022115,p.R1104C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002yzr.1 nonsynonymous SNV exon19 c.C2383T p.R795C SFARKDMLKEHMRVHDNVREYLCAE SFARKDMLKEHMCVHDNVREYLCAE 7.0 10.0 - - 4320_21:43239986-43239986 G>A_SFARKDMLKEHMCVHDNVREYLCAE 0.0 1:180910201-180910201 C>T 0.0 4326 BREAST - - - - KIAA1614 ENST00000367587,p.T601I|uc001gom.1,p.T71I|NM_020950,p.T980I|uc001gok.2,p.T980I|uc001gol.1,p.T601I|ENST00000367588,p.T980I protein_coding, processed_transcript uc001gom.1 nonsynonymous SNV exon3 c.C212T p.T71I GHVLSRASAGAGTGPGSPSAAPLDQ GHVLSRASAGAGIGPGSPSAAPLDQ 3.0 5.0 - - 4326_1:180910201-180910201 C>T_GHVLSRASAGAGIGPGSPSAAPLDQ 0.0 2:71839933-71839933 C>T 1.0 3713 MELANOMA - - - - DYSF uc010feo.3,p.P1476S|NM_001130983,p.P1445S|uc002sif.3,p.P1445S|ENST00000409651,p.P1476S|uc010fek.3,p.P1462S|uc010fee.3,p.P1444S|ENST00000410041,p.P1462S|NM_001130980,p.P1461S|uc002sig.4,p.P1430S|ENST00000409582,p.P1461S|ENST00000394120,p.P1445S|uc010fen.3,p.P1462S|NM_001130987,p.P1462S|NM_001130981,p.P1461S|NM_001130978,p.P1444S|uc002sie.3,p.P1444S|uc010yqz.2,p.P184S|uc010fej.3,p.P1431S|NM_001130977,p.P1430S|NM_001130984,p.P1431S|NM_001130455,p.P1445S|uc010feg.3,p.P1475S|ENST00000409744,p.P1431S|NM_001130986,p.P1431S|NM_001130979,p.P1475S|ENST00000409366,p.P1445S|ENST00000258104,p.P1444S|NM_003494,p.P1444S|ENST00000413539,p.P1475S|NM_001130985,p.P1462S|uc010fef.3,p.P1461S|ENST00000429174,p.P1444S|NM_001130982,p.P1476S|uc010yqy.2,p.P325S|uc010fel.3,p.P1431S|ENST00000409762,p.P1461S|uc010fem.3,p.P1445S|ENST00000410020,p.P1462S|NM_001130976,p.P1430S|uc010fei.3,p.P1461S|uc010feh.3,p.P1430S protein_coding, processed_transcript uc010yqz.2 nonsynonymous SNV exon5 c.C550T p.P184S PYSAESPSPQGGPDDVSLLSPGEDV PYSAESPSPQGGSDDVSLLSPGEDV 3.0 5.0 - - 3713_2:71839933-71839933 C>T_PYSAESPSPQGGSDDVSLLSPGEDV 0.0 16:57918229-57918229 A>T 0.0 4287 COLORECTAL - - - - CNGB1 NM_001286130,p.S1193T|ENST00000251102,p.S1199T|ENST00000564448,p.S1193T|uc010cdh.2,p.S1193T|uc002emt.2,p.S1199T|NM_001297,p.S1199T retained_intron, protein_coding, processed_transcript uc010cdh.2 nonsynonymous SNV exon33 c.T3577A p.S1193T RTPPEPPGSPPSSPPPASLGRPEGE RTPPEPPGSPPSTPPPASLGRPEGE 1.0 9.0 - - 4287_16:57918229-57918229 A>T_RTPPEPPGSPPSTPPPASLGRPEGE 0.0 1:28864473-28864473 G>A 1.0 3903 MELANOMA - - - - RCC1 ENST00000398958,p.G407E|NM_001048195,p.G424E|ENST00000373833,p.G407E|uc001bqa.2,p.G407E|uc001bqc.2,p.G407E|ENST00000373831,p.G438E|NM_001048194,p.G438E|NM_001048199,p.G407E|uc001bqg.2,p.G407E|NM_001269,p.G407E|ENST00000373832,p.G407E|uc001bqf.2,p.G438E|uc001bqb.2,p.G407E|uc001bqe.2,p.G424E retained_intron, protein_coding, nonsense_mediated_decay uc001bqg.2 nonsynonymous SNV exon10 c.G1220A p.G407E QLENRVVLSVSSGGQHTVLLVKDKE QLENRVVLSVSSEGQHTVLLVKDKE 9.0 4.0 - - 3903_1:28864473-28864473 G>A_QLENRVVLSVSSEGQHTVLLVKDKE 0.0 17:21205537-21205537 T>C 1.0 4155 MELANOMA - - - - MAP2K3 ENST00000342679,p.I161T|ENST00000316920,p.I132T|uc021tsr.1,p.I132T|ENST00000361818,p.I132T|uc002gys.3,p.I161T|NM_145109,p.I161T|uc002gyt.3,p.I132T|ENST00000526076,p.I132T|uc021tsq.1,p.I132T|NM_002756,p.I132T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021tsr.1 nonsynonymous SNV exon7 c.T395C p.I132T KFYRKVLDKNMTIPEDILGEIAVSI KFYRKVLDKNMTTPEDILGEIAVSI 8.0 1.0 - - 4155_17:21205537-21205537 T>C_KFYRKVLDKNMTTPEDILGEIAVSI 0.0 9:128206805-128206805 G>A 1.0 4244 COLORECTAL - - - - MAPKAP1 ENST00000373511,p.A426V|ENST00000394063,p.A281V|ENST00000373503,p.A281V|ENST00000373498,p.A473V|uc011lzv.2,p.A181V|NM_001006620,p.A281V|uc004bpy.3,p.A437V|NM_001006617,p.A473V|NM_001006619,p.A426V|uc004bpz.3,p.A426V|uc011lzu.2,p.A281V|NM_001006621,p.A281V|NM_024117,p.A437V|ENST00000265960,p.A473V|ENST00000350766,p.A437V|ENST00000373497,p.A186V|uc004bpv.3,p.A473V|uc004bpw.3,p.A281V|uc004bpx.3,p.A281V|uc011lzt.2,p.A276V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011lzv.2 nonsynonymous SNV exon6 c.C542T p.A181V HDYKHLYFESDAATVNEIVLKVNYI HDYKHLYFESDAVTVNEIVLKVNYI 10.0 1.0 - - 4244_9:128206805-128206805 G>A_HDYKHLYFESDAVTVNEIVLKVNYI 0.0 9:96416825-96416825 T>C 1.0 3919 MELANOMA - - - - PHF2 uc004aub.3,p.V307A|NM_005392,p.V307A|ENST00000359246,p.V307A|uc011lug.1,p.V190A protein_coding uc011lug.1 nonsynonymous SNV exon7 c.T569C p.V190A FADQVDKCYKCIVKQGQTLFIPSGW FADQVDKCYKCIAKQGQTLFIPSGW 5.0 4.0 - - 3919_9:96416825-96416825 T>C_FADQVDKCYKCIAKQGQTLFIPSGW 0.0 9:84609198-84609198 G>T 0.0 4284 COLORECTAL - - - - SPATA31D1 NM_001001670,p.E1271D|ENST00000344803,p.E1271D|uc004amn.3,p.E1271D protein_coding uc004amn.3 nonsynonymous SNV exon4 c.G3813T p.E1271D LEDSGIRVAQKQEPRVPTCVLQKCQ LEDSGIRVAQKQDPRVPTCVLQKCQ 4.0 9.0 - - 4284_9:84609198-84609198 G>T_LEDSGIRVAQKQDPRVPTCVLQKCQ 0.0 4:87968330-87968330 G>A 1.0 3713 MELANOMA - - - 1 AFF1 uc011ccy.2,p.V215I|uc011ccx.2,p.V149I|ENST00000503477,p.V215I|uc003hqk.4,p.V208I|uc003hqh.2,p.V215I|uc003hqj.4,p.V208I|ENST00000395146,p.V215I|NM_005935,p.V208I|ENST00000507468,p.V215I|ENST00000307808,p.V208I|uc011ccz.2,p.V215I|NM_001166693,p.V215I retained_intron, protein_coding, processed_transcript uc011ccz.2 nonsynonymous SNV exon4 c.G643A p.V215I RELSPLISLPSPVPPLSPIHSNQQT RELSPLISLPSPIPPLSPIHSNQQT 7.0 5.0 - - 3713_4:87968330-87968330 G>A_RELSPLISLPSPIPPLSPIHSNQQT 0.0 9:125438336-125438336 C>G 0.0 3775 CERVICAL - - - - OR1L3 uc011lzb.2,p.Q310E|ENST00000304820,p.Q310E|NM_001005234,p.Q310E protein_coding uc011lzb.2 nonsynonymous SNV exon1 c.C928G p.Q310E RGLQKLINKIKSQMSRFSTKTNKIC RGLQKLINKIKSEMSRFSTKTNKIC 1.0 5.0 - - 3775_9:125438336-125438336 C>G_RGLQKLINKIKSEMSRFSTKTNKIC 0.0 19:15491154-15491154 C>T 1.0 3775 CERVICAL - - - - AKAP8L ENST00000397410,p.E574K|NM_014371,p.E574K|NM_001291478,p.E513K|uc002naw.1,p.E574K|ENST00000595465,p.E513K|uc010xoh.1,p.E513K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010xoh.1 nonsynonymous SNV exon14 c.G1537A p.E513K AEGGALDEGAQGEAAGISEGAEGVP AEGGALDEGAQGKAAGISEGAEGVP 10.0 5.0 - - 3775_19:15491154-15491154 C>T_AEGGALDEGAQGKAAGISEGAEGVP 0.0 10:1070582-1070582 C>T 0.0 4240 BREAST - - - - IDI2 ENST00000277517,p.D28N|NM_033261,p.D28N|uc001ifv.1,p.D28N protein_coding uc001ifv.1 nonsynonymous SNV exon2 c.G82A p.D28N RLEEMLIVVDENDKVIGADTKRNCH RLEEMLIVVDENNKVIGADTKRNCH 3.0 8.0 - - 4240_10:1070582-1070582 C>T_RLEEMLIVVDENNKVIGADTKRNCH 0.0 12:124281258-124281258 A>T 0.0 4298 COLORECTAL - - - - DNAH10 uc010tav.1,p.K105M|uc010taw.1,p.K48M|ENST00000409039,p.K563M|uc001uft.4,p.K563M|NM_207437,p.K563M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010taw.1 nonsynonymous SNV exon2 c.A143T p.K48M IFVQNLENPPLYKNHPPVAGAIYWE IFVQNLENPPLYMNHPPVAGAIYWE 3.0 7.0 - - 4298_12:124281258-124281258 A>T_IFVQNLENPPLYMNHPPVAGAIYWE 0.0 2:3605750-3605750 C>T 1.0 4180 BREAST - - - - RNASEH1 NM_002936,p.G34D|ENST00000315212,p.G34D|uc002qxt.3,p.G34D retained_intron, protein_coding, nonsense_mediated_decay uc002qxt.3 nonsynonymous SNV exon1 c.G101A p.G34D SRGFGMFYAVRRGRKTGVFLTWNEC SRGFGMFYAVRRDRKTGVFLTWNEC 8.0 7.0 - - 4180_2:3605750-3605750 C>T_SRGFGMFYAVRRDRKTGVFLTWNEC 0.0 13:109318335-109318335 C>T 0.0 4160 COLORECTAL - - - - MYO16 uc010agk.2,p.R44C|NM_015011,p.R22C|ENST00000251041,p.R22C|NM_001198950,p.R44C|uc001vqt.1,p.R22C|ENST00000357550,p.R22C|ENST00000356711,p.R22C protein_coding, processed_transcript uc010agk.2 nonsynonymous SNV exon2 c.C130T p.R44C SLPLGQRQRLVKRMRCEQIKAYYER SLPLGQRQRLVKCMRCEQIKAYYER 2.0 10.0 - - 4160_13:109318335-109318335 C>T_SLPLGQRQRLVKCMRCEQIKAYYER 0.0 7:1784468-1784468 C>T 1.0 4213 COLORECTAL - - - - ELFN1 NM_001128636,p.S79L|ENST00000424383,p.S79L|uc031swk.1,p.S79L|uc010ksg.2,p.S79L|ENST00000561626,p.S79L|ENST00000541472,p.S79L protein_coding uc031swk.1 nonsynonymous SNV exon1 c.C236T p.S79L LNENRIRSVQYASLSRFGNLTYLNL LNENRIRSVQYALLSRFGNLTYLNL 5.0 9.0 - - 4213_7:1784468-1784468 C>T_LNENRIRSVQYALLSRFGNLTYLNL 0.0 8:99441463-99441463 G>A 0.0 4213 COLORECTAL - - ID=COSM1102909;OCCURENCE=1(endometrium) - KCNS2 uc022azb.1,p.R419H|ENST00000287042,p.R419H|ENST00000521839,p.R419H|uc003yin.3,p.R419H|NM_020697,p.R419H protein_coding uc022azb.1 nonsynonymous SNV exon1 c.G1256A p.R419H TLIFNKFSHFYRRQKQLESAMRSCD TLIFNKFSHFYRHQKQLESAMRSCD 3.0 9.0 - - 4213_8:99441463-99441463 G>A_TLIFNKFSHFYRHQKQLESAMRSCD 0.0 10:72179672-72179672 A>C 1.0 4298 COLORECTAL - - - - EIF4EBP2 NM_004096,p.T50P|ENST00000373218,p.T50P|uc001jrb.3,p.T50P protein_coding uc001jrb.3 nonsynonymous SNV exon2 c.A148C p.T50P PGGTLFSTTPGGTRIIYDRKFLLDR PGGTLFSTTPGGPRIIYDRKFLLDR 6.0 1.0 - - 4298_10:72179672-72179672 A>C_PGGTLFSTTPGGPRIIYDRKFLLDR 0.0 20:62124571-62124571 C>A 0.0 4258 ENDOMETRIAL - - - - EEF1A2 uc002yfe.2,p.A231S|ENST00000217182,p.A231S|ENST00000298049,p.A231S|NM_001958,p.A231S protein_coding uc002yfe.2 nonsynonymous SNV exon5 c.G691T p.A231S KEGNASGVSLLEALDTILPPTRPTD KEGNASGVSLLESLDTILPPTRPTD 7.0 8.0 - - 4258_20:62124571-62124571 C>A_KEGNASGVSLLESLDTILPPTRPTD 0.0 9:123165097-123165097 T>C 0.0 4345 COLORECTAL - - - - CDK5RAP2 uc011lxw.3,p.E1030G|ENST00000416449,p.E1159G|ENST00000349780,p.E1765G|uc010mvi.3,p.E774G|NM_001011649,p.E1686G|NM_018249,p.E1765G|uc004bkg.4,p.E1686G|NM_001272039,p.E1535G|ENST00000359309,p.E1724G|uc011lxz.3,p.E1030G|uc011lya.3,p.E1030G|ENST00000425647,p.E775G|uc004bkf.4,p.E1765G|uc004bkh.2,p.E1535G|ENST00000360822,p.E1733G|uc004bke.3,p.E1050G|ENST00000360190,p.E1686G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011lya.3 nonsynonymous SNV exon34 c.A3089G p.E1030G IQTQEAPSSTSQELGTKGPHPAPLS IQTQEAPSSTSQGLGTKGPHPAPLS 9.0 2.0 - - 4345_9:123165097-123165097 T>C_IQTQEAPSSTSQGLGTKGPHPAPLS 0.0 1:114483132-114483132 T>C 1.0 4301 MELANOMA - - - - HIPK1 ENST00000514621,p.Y43H|ENST00000369561,p.Y43H|NM_198268,p.Y43H|ENST00000426820,p.Y43H|uc001een.3,p.Y43H|ENST00000369555,p.Y43H|NM_152696,p.Y43H|ENST00000369558,p.Y43H|uc001eem.3,p.Y43H|ENST00000369554,p.Y43H|ENST00000503968,p.Y43H|ENST00000369559,p.Y43H|uc001eel.3,p.Y43H protein_coding uc001een.3 nonsynonymous SNV exon2 c.T127C p.Y43H WDVSGQSSNDKYYTHSKTLPATQGQ WDVSGQSSNDKYHTHSKTLPATQGQ 8.0 8.0 - - 4301_1:114483132-114483132 T>C_WDVSGQSSNDKYHTHSKTLPATQGQ 0.0 6:97247390-97247390 A>T 0.0 4259 COLORECTAL - - - - GPR63 uc003pou.3,p.F73Y|ENST00000229955,p.F73Y|NM_001143957,p.F73Y|uc021zcy.1,p.F73Y|uc010kcl.3,p.F73Y|ENST00000417980,p.F73Y|NM_030784,p.F73Y protein_coding uc021zcy.1 nonsynonymous SNV exon1 c.T218A p.F73Y VNSTAVPTTPAAFKSLNLPLQITLS VNSTAVPTTPAAYKSLNLPLQITLS 3.0 2.0 - - 4259_6:97247390-97247390 A>T_VNSTAVPTTPAAYKSLNLPLQITLS 0.0 17:65184513-65184513 G>A 1.0 3466 MELANOMA - - - - HELZ ENST00000580168,p.R362C|uc002jfx.4,p.R362C|NM_014877,p.R362C|ENST00000579953,p.R362C|uc010wqk.2,p.R362C|ENST00000417253,p.R362C|ENST00000358691,p.R362C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay uc010wqk.2 nonsynonymous SNV exon12 c.C1084T p.R362C GIAFNTEIFGTFRQTIVFDFGLEPV GIAFNTEIFGTFCQTIVFDFGLEPV 8.0 9.0 - - 3466_17:65184513-65184513 G>A_GIAFNTEIFGTFCQTIVFDFGLEPV 0.0 5:140432164-140432164 C>A 0.0 4129 NSCLC - - - - PCDHB1 NM_013340,p.T370N|ENST00000306549,p.T370N|uc003lik.1,p.T370N protein_coding uc003lik.1 nonsynonymous SNV exon1 c.C1109A p.T370N EDSPPQTVVALFTIRDRDIRVGGKV EDSPPQTVVALFNIRDRDIRVGGKV 1.0 4.0 - - 4129_5:140432164-140432164 C>A_EDSPPQTVVALFNIRDRDIRVGGKV 0.0 17:60060290-60060290 C>A 1.0 4071 COLORECTAL - - - - MED13 uc002izo.3,p.G1025V|ENST00000397786,p.G1025V|NM_005121,p.G1025V retained_intron, protein_coding, processed_transcript uc002izo.3 nonsynonymous SNV exon16 c.G3074T p.G1025V RTPRTPRTPRGAGGPASAQGSVKYE RTPRTPRTPRGAVGPASAQGSVKYE 9.0 4.0 - - 4071_17:60060290-60060290 C>A_RTPRTPRTPRGAVGPASAQGSVKYE 0.0 21:34925262-34925262 C>T 1.0 4180 BREAST - - - - SON uc002ysg.3,p.S233L|ENST00000356577,p.S1242L|NM_001291411,p.S1242L|uc002ysb.1,p.S1242L|uc002yse.1,p.S1242L|NM_032195,p.S1242L|uc002ysd.3,p.S233L|ENST00000290239,p.S1242L|NM_138927,p.S1242L|ENST00000455528,p.S1242L|ENST00000381679,p.S1242L|uc021win.1,p.S888L|ENST00000300278,p.S1242L|uc002ysc.3,p.S1242L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021win.1 nonsynonymous SNV exon1 c.C2663T p.S888L YSVSASDPSVLVSEAAVTVPEPPPE YSVSASDPSVLVLEAAVTVPEPPPE 10.0 10.0 - - 4180_21:34925262-34925262 C>T_YSVSASDPSVLVLEAAVTVPEPPPE 0.0 22:31658127-31658127 C>T 1.0 4180 BREAST - - - - LIMK2 uc011aln.2,p.R104W|NM_001031801,p.R166W|ENST00000333611,p.R166W|NM_005569,p.R187W|NM_016733,p.R166W|uc003akk.3,p.R166W|ENST00000340552,p.R166W|uc003akj.3,p.R166W|uc003akh.3,p.R187W|ENST00000406516,p.R109W|ENST00000331728,p.R187W retained_intron, protein_coding, processed_transcript uc011aln.2 nonsynonymous SNV exon5 c.C310T p.R104W NYATTVQVKEVNRMHISPNNRNAIH NYATTVQVKEVNWMHISPNNRNAIH 8.0 8.0 - - 4180_22:31658127-31658127 C>T_NYATTVQVKEVNWMHISPNNRNAIH 0.0 15:52416716-52416716 G>A 1.0 3784 MELANOMA - - - - GNB5 uc031qrz.1,p.P84S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031qrz.1 nonsynonymous SNV exon3 c.C250T p.P84S DMKTALALYEFPPMGLLSALDHGII DMKTALALYEFPSMGLLSALDHGII 5.0 6.0 - - 3784_15:52416716-52416716 G>A_DMKTALALYEFPSMGLLSALDHGII 0.0 3:184025700-184025700 G>C 1.0 4078 GASTRIC - - - - PSMD2 uc011brk.1,p.G644A|NM_001278709,p.G615A|ENST00000435761,p.G615A|ENST00000439383,p.G644A|uc003fnn.1,p.G774A|NM_001278708,p.G644A|ENST00000310118,p.G774A|NM_002808,p.G774A|uc011brj.1,p.G615A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011brk.1 nonsynonymous SNV exon17 c.G1931C p.G644A VRLAQGLTHLGKGTLTLCPYHSDRQ VRLAQGLTHLGKATLTLCPYHSDRQ 10.0 8.0 - - 4078_3:184025700-184025700 G>C_VRLAQGLTHLGKATLTLCPYHSDRQ 0.0 6:35467907-35467907 C>T 1.0 4196 COLORECTAL - - - - TULP1 NM_001289395,p.R396H|uc003okv.4,p.R449H|uc003okw.4,p.R396H|ENST00000322263,p.R396H|ENST00000229771,p.R449H|NM_003322,p.R449H retained_intron, protein_coding uc003okw.4 nonsynonymous SNV exon13 c.G1187A p.R396H IRPRNASDGLLVRWQNKTLESLIEL IRPRNASDGLLVHWQNKTLESLIEL 5.0 7.0 - - 4196_6:35467907-35467907 C>T_IRPRNASDGLLVHWQNKTLESLIEL 0.0 20:62198871-62198871 C>T 1.0 3713 MELANOMA - - ID=COSM1615869;OCCURENCE=2(liver) - HELZ2 ENST00000467148,p.D614N|ENST00000427522,p.D45N|NM_033405,p.D45N|uc002yfl.1,p.D45N|NM_001037335,p.D614N|uc002yfm.2,p.D614N retained_intron, protein_coding, processed_transcript uc002yfm.2 nonsynonymous SNV exon7 c.G1840A p.D614N RVMYTDRPLSQTDPVTLQYCCLTDD RVMYTDRPLSQTNPVTLQYCCLTDD 8.0 7.0 CD8 - 3713_20:62198871-62198871 C>T_RVMYTDRPLSQTNPVTLQYCCLTDD 1.0 16:3433076-3433076 G>A 0.0 4238 COLORECTAL - - - - ZSCAN32 NM_017810,p.R412W|uc002cux.4,p.R623W|NM_001284528,p.R335W|ENST00000304926,p.R412W|NM_001284529,p.R335W|NM_001284527,p.R624W|ENST00000439568,p.R335W|uc002cuy.4,p.R335W|uc002cuz.3,p.R412W|ENST00000396852,p.R624W|ENST00000396846,p.R624W|uc010uwx.2,p.R335W retained_intron, protein_coding, nonsense_mediated_decay uc010uwx.2 nonsynonymous SNV exon3 c.C1003T p.R335W KRFNNSSQFSAHRRIHTGESPYKCA KRFNNSSQFSAHWRIHTGESPYKCA 6.0 4.0 - - 4238_16:3433076-3433076 G>A_KRFNNSSQFSAHWRIHTGESPYKCA 0.0 19:14161608-14161608 C>T 0.0 3795 MELANOMA 0.0005 - - - IL27RA NM_004843,p.P481S|ENST00000263379,p.P481S|uc002mxx.4,p.P481S protein_coding uc002mxx.4 nonsynonymous SNV exon11 c.C1441T p.P481S SGNTQSVTLPDLPWGPCELWVTAST SGNTQSVTLPDLSWGPCELWVTAST 6.0 6.0 - - 3795_19:14161608-14161608 C>T_SGNTQSVTLPDLSWGPCELWVTAST 0.0 1:27632755-27632755 C>T 1.0 3713 MELANOMA - - - - WDTC1 ENST00000361771,p.P638S|NM_001276252,p.P639S|ENST00000319394,p.P639S|NM_015023,p.P638S|uc009vst.3,p.P639S|uc001bno.4,p.P638S|ENST00000472249,p.P87S protein_coding, processed_transcript, nonsense_mediated_decay uc009vst.3 nonsynonymous SNV exon16 c.C1915T p.P639S ASQANQRRMNADPLEVMLLNMGYRI ASQANQRRMNADSLEVMLLNMGYRI 8.0 2.0 - - 3713_1:27632755-27632755 C>T_ASQANQRRMNADSLEVMLLNMGYRI 0.0 2:135628543-135628543 G>C 1.0 4252 COLORECTAL - - - - ACMSD ENST00000392928,p.A139P|ENST00000356140,p.A197P|ENST00000283054,p.A139P|uc002ttz.3,p.A197P|NM_138326,p.A197P|uc002tua.3,p.A139P retained_intron, protein_coding uc002tua.3 nonsynonymous SNV exon7 c.G415C p.A139P AKYWLPWLVGMPAETTIAICSMIMG AKYWLPWLVGMPPETTIAICSMIMG 1.0 6.0 - - 4252_2:135628543-135628543 G>C_AKYWLPWLVGMPPETTIAICSMIMG 0.0 7:120935621-120935621 C>T 1.0 3795 MELANOMA 0.0005 - ID=COSM274319;OCCURENCE=1(large_intestine) - CPED1 ENST00000310396,p.S999L|NM_024913,p.S999L|uc003vjq.4,p.S999L protein_coding, processed_transcript, nonsense_mediated_decay uc003vjq.4 nonsynonymous SNV exon23 c.C2996T p.S999L SKLQQGTVTNFRSPYHVRGPINQVC SKLQQGTVTNFRLPYHVRGPINQVC 7.0 4.0 - - 3795_7:120935621-120935621 C>T_SKLQQGTVTNFRLPYHVRGPINQVC 0.0 4:178274759-178274759 A>G 1.0 3713 MELANOMA - - - - NEIL3 uc003iut.2,p.K446R|NM_018248,p.K446R|ENST00000264596,p.K446R protein_coding, nonsense_mediated_decay uc003iut.2 nonsynonymous SNV exon8 c.A1337G p.K446R KKTTNDITQPSSKVNISPTISSESK KKTTNDITQPSSRVNISPTISSESK 2.0 4.0 - - 3713_4:178274759-178274759 A>G_KKTTNDITQPSSRVNISPTISSESK 0.0 X:151909198-151909198 G>A 1.0 3713 MELANOMA - - - - CSAG1 NM_153478,p.G76D|NM_001102576,p.G76D|ENST00000452779,p.G76D|ENST00000370287,p.G76D|uc004fgf.3,p.G76D|uc004fge.3,p.G76D protein_coding, nonsense_mediated_decay uc004fgf.3 nonsynonymous SNV exon4 c.G227A p.G76D EKGPVKEVPGTKGSP EKGPVKEVPGTKDSP 4.0 10.0 - - 3713_X:151909198-151909198 G>A_EKGPVKEVPGTKDSP 0.0 4:185606598-185606598 C>T 1.0 3466 MELANOMA - - - - PRIMPOL ENST00000314970,p.P378S|NM_152683,p.P378S|ENST00000508001,p.P52S|ENST00000503752,p.P378S|ENST00000515774,p.P249S|uc003iwm.2,p.P249S|uc003iwk.2,p.P378S|NM_001300767,p.P249S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003iwm.2 nonsynonymous SNV exon9 c.C745T p.P249S VETIEGFQCSPYPEVDHFVLSLVNK VETIEGFQCSPYSEVDHFVLSLVNK 7.0 4.0 - - 3466_4:185606598-185606598 C>T_VETIEGFQCSPYSEVDHFVLSLVNK 0.0 6:34386174-34386174 C>T 1.0 4240 BREAST - - - - RPS10,RPS10-NUDT3 NM_001202470,p.G143E|ENST00000605528,p.G143E|uc021yyt.1,p.G143E protein_coding, processed_transcript uc021yyt.1 nonsynonymous SNV exon5 c.G428A p.G143E AVPPGADKKAEAGAGSATEFQFVLL AVPPGADKKAEAEAGSATEFQFVLL 10.0 6.0 CD8 - 4240_6:34386174-34386174 C>T_AVPPGADKKAEAEAGSATEFQFVLL 2.0 X:140993492-140993492 G>C 0.0 4258 ENDOMETRIAL - - - - MAGEC1 uc004fbt.3,p.S101T|ENST00000285879,p.S101T|NM_005462,p.S101T protein_coding uc004fbt.3 nonsynonymous SNV exon4 c.G302C p.S101T GDDTQSPLQNSQSSPEGKDSLSPLE GDDTQSPLQNSQTSPEGKDSLSPLE 5.0 4.0 - - 4258_X:140993492-140993492 G>C_GDDTQSPLQNSQTSPEGKDSLSPLE 0.0 6:35987386-35987388 CTC>- 0.0 4329 COLORECTAL - - - - SLC26A8 NM_052961,p.33_33del|uc003oll.3,p.33_33del|ENST00000480663,p.119_119del|ENST00000355574,p.33_33del|NM_001193476,p.33_33del|NM_138718,p.33_33del|uc003olm.3,p.33_33del|ENST00000394602,p.33_33del|ENST00000490799,p.33_33del|uc003oln.3,p.33_33del retained_intron, protein_coding, nonsense_mediated_decay uc003oln.3 nonframeshift deletion exon2 c.97_99del p.33_33del FAYDVKREVYNEETFQQEHKRKASS FAYDVKREVYNETFQQEHKRKASSS 1.0 10.0 - - 4329_6:35987386-35987388 CTC>-_FAYDVKREVYNETFQQEHKRKASSS 0.0 1:237969525-237969525 C>A 0.0 4129 NSCLC - - - - RYR2 uc010pyb.1,p.A180D|ENST00000366574,p.A4747D|NM_001035,p.A4747D|ENST00000360064,p.A4753D|ENST00000542537,p.A4731D|uc001hyl.1,p.A4747D protein_coding, processed_transcript uc010pyb.1 nonsynonymous SNV exon7 c.C539A p.A180D NNFFFAAHLLDIAMGFKTLRTILSS NNFFFAAHLLDIDMGFKTLRTILSS 1.0 3.0 - - 4129_1:237969525-237969525 C>A_NNFFFAAHLLDIDMGFKTLRTILSS 0.0 15:77907398-77907398 C>T 0.0 4316 COLORECTAL 0.0005 - ID=COSM1563346;OCCURENCE=1(large_intestine) - LINGO1 NM_001301192,p.R278H|NM_001301199,p.R278H|uc002bcu.1,p.R278H|NM_001301189,p.R278H|NM_001301191,p.R278H|NM_001301187,p.R278H|NM_032808,p.R284H|NM_001301195,p.R278H|NM_001301194,p.R278H|ENST00000561030,p.R278H|NM_001301198,p.R278H|uc002bct.1,p.R284H|NM_001301197,p.R278H|ENST00000355300,p.R284H|NM_001301186,p.R278H|ENST00000557798,p.R289H|NM_001301200,p.R278H protein_coding, processed_transcript uc002bcu.1 nonsynonymous SNV exon4 c.G833A p.R278H HCNLTAVPYLAVRHLVYLRFLNLSY HCNLTAVPYLAVHHLVYLRFLNLSY 4.0 3.0 - - 4316_15:77907398-77907398 C>T_HCNLTAVPYLAVHHLVYLRFLNLSY 0.0 3:108788569-108788569 G>A 0.0 3795 MELANOMA - - - - MORC1 uc003dxl.3,p.S242F|ENST00000483760,p.S242F|NM_014429,p.S242F|uc011bhn.2,p.S242F|ENST00000232603,p.S242F protein_coding uc011bhn.2 nonsynonymous SNV exon9 c.C725T p.S242F DFPARWSFRAYTSVLYFNPWMRIFI DFPARWSFRAYTFVLYFNPWMRIFI 1.0 2.0 - - 3795_3:108788569-108788569 G>A_DFPARWSFRAYTFVLYFNPWMRIFI 0.0 14:92909140-92909140 T>G 0.0 2556 MELANOMA - - - - SLC24A4 ENST00000531433,p.C188G|uc010twm.2,p.C188G|uc001yak.3,p.C188G|NM_153647,p.C188G|uc001yai.3,p.C124G|NM_153648,p.C124G|ENST00000298877,p.C171G|ENST00000351924,p.C171G|NM_153646,p.C188G|ENST00000532405,p.C188G|uc010auj.3,p.C79G|ENST00000393265,p.C124G retained_intron, protein_coding, processed_transcript uc010twm.2 nonsynonymous SNV exon7 c.T562G p.C188G SAVFNILCIIGVCGLFAGQVVRLTW SAVFNILCIIGVGGLFAGQVVRLTW 4.0 6.0 - - 2556_14:92909140-92909140 T>G_SAVFNILCIIGVGGLFAGQVVRLTW 0.0 1:162743262-162743262 C>T 0.0 4284 COLORECTAL - - - 1 DDR2 NM_006182,p.H578Y|uc001gcg.3,p.H578Y|uc001gcf.3,p.H578Y|NM_001014796,p.H578Y|ENST00000367922,p.H578Y|ENST00000367921,p.H578Y protein_coding uc001gcg.3 nonsynonymous SNV exon14 c.C1732T p.H578Y KEKLGEGQFGEVHLCEVEGMEKFKD KEKLGEGQFGEVYLCEVEGMEKFKD 7.0 7.0 - - 4284_1:162743262-162743262 C>T_KEKLGEGQFGEVYLCEVEGMEKFKD 0.0 11:20181837-20181837 C>T 1.0 4281 COLORECTAL - - - - DBX1 ENST00000524983,p.G12R|NM_001029865,p.G12R|ENST00000227256,p.G12R|uc021qey.1,p.G12R protein_coding uc021qey.1 nonsynonymous SNV exon1 c.G34A p.G12R MMFPGLLAPPAGYPSLLRPTPTLT MMFPGLLAPPARYPSLLRPTPTLT 3.0 3.0 - - 4281_11:20181837-20181837 C>T_MMFPGLLAPPARYPSLLRPTPTLT 0.0 19:18778920-18778920 C>T 1.0 4301 MELANOMA - - - - KLHL26 NM_018316,p.P238L|uc002njz.1,p.P238L|ENST00000300976,p.P238L protein_coding, processed_transcript, nonsense_mediated_decay uc002njz.1 nonsynonymous SNV exon3 c.C713T p.P238L LFRAAVRWLQHDPARRPRASHVLCH LFRAAVRWLQHDLARRPRASHVLCH 6.0 7.0 - - 4301_19:18778920-18778920 C>T_LFRAAVRWLQHDLARRPRASHVLCH 0.0 X:154182265-154182265 C>T 0.0 4155 MELANOMA - - - - F8 ENST00000360256,p.R602Q|uc004fmt.3,p.R602Q|NM_000132,p.R602Q protein_coding, processed_transcript uc004fmt.3 nonsynonymous SNV exon12 c.G1805A p.R602Q RNVILFSVFDENRSWYLTENIQRFL RNVILFSVFDENQSWYLTENIQRFL 5.0 10.0 - - 4155_X:154182265-154182265 C>T_RNVILFSVFDENQSWYLTENIQRFL 0.0 13:38237742-38237742 G>A 1.0 3713 MELANOMA - - - - TRPC4 uc010abw.3,p.S327F|ENST00000379673,p.S500F|uc010abx.3,p.S500F|uc001uws.3,p.S500F|ENST00000379705,p.S500F|ENST00000379679,p.S327F|uc001uwt.3,p.S500F|ENST00000379681,p.S500F|NM_016179,p.S500F|NM_001135957,p.S500F|NM_001135955,p.S500F|ENST00000447043,p.S500F|ENST00000355779,p.S500F|uc010aby.3,p.S500F|uc010tey.2,p.S500F|NM_001135958,p.S327F|uc010abv.3,p.S80F|ENST00000338947,p.S327F|ENST00000358477,p.S500F|NM_001135956,p.S500F|NM_003306,p.S500F protein_coding, processed_transcript, nonsense_mediated_decay uc010tey.2 nonsynonymous SNV exon6 c.C1499T p.S500F SSLRLISLFTANSHLGPLQISLGRM SSLRLISLFTANFHLGPLQISLGRM 1.0 10.0 - - 3713_13:38237742-38237742 G>A_SSLRLISLFTANFHLGPLQISLGRM 0.0 11:58602195-58602195 C>T 0.0 3903 MELANOMA - - - - GLYATL2 ENST00000532258,p.D198N|ENST00000287275,p.D198N|uc001nnd.4,p.D198N|uc009ymq.3,p.D198N|NM_145016,p.D198N protein_coding, processed_transcript uc009ymq.3 nonsynonymous SNV exon7 c.G592A p.D198N ERSLKYIERCLQDFLGFGVLGPEGQ ERSLKYIERCLQNFLGFGVLGPEGQ 1.0 4.0 - - 3903_11:58602195-58602195 C>T_ERSLKYIERCLQNFLGFGVLGPEGQ 0.0 19:6415658-6415658 G>A 1.0 3466 MELANOMA - - - - KHSRP ENST00000398148,p.P592L|ENST00000594496,p.P13L|NM_003685,p.P592L|uc002mer.4,p.P592L retained_intron, protein_coding uc002mer.4 nonsynonymous SNV exon17 c.C1775T p.P592L YSHYYQQPPGPVPGPAPAPAAPPAQ YSHYYQQPPGPVLGPAPAPAAPPAQ 10.0 2.0 CD8 - 3466_19:6415658-6415658 G>A_YSHYYQQPPGPVLGPAPAPAAPPAQ 1.0 5:176951636-176951636 C>T 1.0 2369 MELANOMA - - - - FAM193B uc003mht.3,p.E242K|ENST00000514747,p.E616K|NM_001190946,p.E616K|ENST00000443375,p.E583K|uc003mhu.3,p.E616K|ENST00000329540,p.E242K|uc003mhr.3,p.E120K|uc003mhv.3,p.E242K|uc021yiw.1,p.E242K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021yiw.1 nonsynonymous SNV exon3 c.G724A p.E242K PGYPSSEEPSSKEVPSCKQELPEPV PGYPSSEEPSSKKVPSCKQELPEPV 7.0 4.0 - - 2369_5:176951636-176951636 C>T_PGYPSSEEPSSKKVPSCKQELPEPV 0.0 20:43379423-43379423 G>A 0.0 4189 MELANOMA - - - - KCNK15 NM_022358,p.G313R|uc002xmr.3,p.G313R|ENST00000372861,p.G313R protein_coding uc002xmr.3 nonsynonymous SNV exon2 c.G937A p.G313R RDNLGFSPPSSPGVVRGGQAPRLGA RDNLGFSPPSSPRVVRGGQAPRLGA 3.0 6.0 - - 4189_20:43379423-43379423 G>A_RDNLGFSPPSSPRVVRGGQAPRLGA 0.0 11:5653734-5653734 T>C 0.0 4246 COLORECTAL - - - - TRIM34,TRIM6-TRIM34 NM_021616,p.V58A|uc001mbf.3,p.V412A|uc001mbj.3,p.V58A|uc001mbh.3,p.V58A|ENST00000457787,p.V58A|NM_130390,p.V58A|ENST00000429814,p.V58A|ENST00000514226,p.V58A|NM_001003819,p.V412A|ENST00000354852,p.V412A|uc001mbi.3,p.V58A|NM_001003827,p.V58A retained_intron, protein_coding, processed_transcript uc001mbj.3 nonsynonymous SNV exon1 c.T173C p.V58A AVTSMGGKSSCPVCGISYSFEHLQA AVTSMGGKSSCPACGISYSFEHLQA 6.0 4.0 - - 4246_11:5653734-5653734 T>C_AVTSMGGKSSCPACGISYSFEHLQA 0.0 19:42585066-42585066 G>A 1.0 4317 COLORECTAL - - ID=COSM1481127;OCCURENCE=1(breast) - ZNF574 NM_022752,p.D770N|uc002osk.4,p.D860N|ENST00000222339,p.D860N|ENST00000359044,p.D770N|ENST00000600245,p.D770N|uc021uva.1,p.D770N|uc002osm.4,p.D770N protein_coding uc021uva.1 nonsynonymous SNV exon1 c.G2308A p.D770N RIHTGERPYPCPDCGKAFRQSTHLK RIHTGERPYPCPNCGKAFRQSTHLK 6.0 8.0 - - 4317_19:42585066-42585066 G>A_RIHTGERPYPCPNCGKAFRQSTHLK 0.0 19:56934532-56934532 A>G 1.0 4317 COLORECTAL - - - - ZNF583 uc010ygl.1,p.T169A|ENST00000333201,p.T169A|NM_001159861,p.T169A|ENST00000291598,p.T169A|uc010ygm.1,p.T169A|NM_152478,p.T169A|uc002qnc.2,p.T169A|NM_001159860,p.T169A retained_intron, protein_coding, processed_transcript uc010ygm.1 nonsynonymous SNV exon5 c.A505G p.T169A EYNKSWQTFHQDTIFDIQQSFPTKE EYNKSWQTFHQDAIFDIQQSFPTKE 5.0 6.0 - - 4317_19:56934532-56934532 A>G_EYNKSWQTFHQDAIFDIQQSFPTKE 0.0 17:4904079-4904079 C>T 1.0 2591 MELANOMA - - - - KIF1C uc002gan.2,p.P40L|NM_006612,p.P40L|ENST00000320785,p.P40L|ENST00000574165,p.P40L retained_intron, protein_coding, processed_transcript uc002gan.2 nonsynonymous SNV exon4 c.C119T p.P40L VSMQGNTTSIINPKQSKDAPKSFTF VSMQGNTTSIINLKQSKDAPKSFTF 9.0 4.0 - - 2591_17:4904079-4904079 C>T_VSMQGNTTSIINLKQSKDAPKSFTF 0.0 10:75532594-75532594 C>A 0.0 4246 COLORECTAL - - - - FUT11 uc001juz.1,p.T168N|NM_173540,p.T168N|uc001juy.1,p.T168N|uc001jva.3,p.T168N|ENST00000394790,p.T168N|ENST00000372841,p.T168N|NM_001284194,p.T168N protein_coding, processed_transcript uc001jva.3 nonsynonymous SNV exon1 c.C503A p.T168N LSHGPGIRLFNLTSTFSRHSDYPLS LSHGPGIRLFNLNSTFSRHSDYPLS 8.0 9.0 - - 4246_10:75532594-75532594 C>A_LSHGPGIRLFNLNSTFSRHSDYPLS 0.0 1:185964096-185964096 G>A 0.0 4316 COLORECTAL - - - - HMCN1 ENST00000367492,p.V1219I|uc001grq.1,p.V1219I|ENST00000271588,p.V1219I|NM_031935,p.V1219I protein_coding, processed_transcript uc001grq.1 nonsynonymous SNV exon24 c.G3655A p.V1219I GGSTMLVDGEHHVSNPDGTLSIDQA GGSTMLVDGEHHISNPDGTLSIDQA 6.0 8.0 - - 4316_1:185964096-185964096 G>A_GGSTMLVDGEHHISNPDGTLSIDQA 0.0 7:92161819-92161819 T>G 0.0 4317 COLORECTAL - - - - RBM48 NM_032120,p.L135R|uc003uma.3,p.L135R|ENST00000496410,p.L77R|uc003ulz.3,p.L135R|ENST00000481551,p.L135R|ENST00000265732,p.L135R|uc011khu.1,p.L135R protein_coding uc011khu.1 nonsynonymous SNV exon3 c.T404G p.L135R PEFETVEETRKKLQMRKAYVVKTTE PEFETVEETRKKRQMRKAYVVKTTE 6.0 4.0 - - 4317_7:92161819-92161819 T>G_PEFETVEETRKKRQMRKAYVVKTTE 0.0 19:53014911-53014911 C>A 0.0 4266 COLORECTAL - - - - ZNF578 uc002pzp.4,p.P426H|ENST00000421239,p.P426H|NM_001099694,p.P426H protein_coding, processed_transcript uc002pzp.4 nonsynonymous SNV exon6 c.C1277A p.P426H LSRHHRLHTGEKPYKCNDCGKAFIH LSRHHRLHTGEKHYKCNDCGKAFIH 3.0 4.0 - - 4266_19:53014911-53014911 C>A_LSRHHRLHTGEKHYKCNDCGKAFIH 0.0 2:176973769-176973769 A>T 1.0 4252 COLORECTAL - - - 1 HOXD11 ENST00000249504,p.T306S|uc002uki.3,p.T306S|NM_021192,p.T306S protein_coding, processed_transcript uc002uki.3 nonsynonymous SNV exon2 c.A916T p.T306S EKRLQLSRMLNLTDRQVKIWFQNRR EKRLQLSRMLNLSDRQVKIWFQNRR 6.0 8.0 - - 4252_2:176973769-176973769 A>T_EKRLQLSRMLNLSDRQVKIWFQNRR 0.0 8:98289315-98289315 C>A 0.0 4213 COLORECTAL - - - - TSPYL5 ENST00000322128,p.G253V|NM_033512,p.G253V|uc003yhy.3,p.G253V protein_coding uc003yhy.3 nonsynonymous SNV exon1 c.G758T p.G253V RNHLIQNIPGFWGQAFQNHPQLASF RNHLIQNIPGFWVQAFQNHPQLASF 6.0 2.0 - - 4213_8:98289315-98289315 C>A_RNHLIQNIPGFWVQAFQNHPQLASF 0.0 1:213414834-213414834 C>T 1.0 3713 MELANOMA - - ID=COSM1689817;OCCURENCE=1(skin) - RPS6KC1 ENST00000543470,p.S460L|uc010ptv.2,p.S207L|uc010ptr.2,p.S672L|NM_012424,p.S672L|NM_001136138,p.S660L|ENST00000366959,p.S660L|ENST00000366960,p.S672L|uc010ptu.2,p.S491L|NM_001287221,p.S491L|NM_001287220,p.S207L|uc010pts.2,p.S460L|NM_001287219,p.S460L|NM_001287218,p.S460L|uc001hkd.3,p.S660L|ENST00000543354,p.S375L|uc010ptt.2,p.S460L|uc001hke.3,p.S491L protein_coding, processed_transcript uc010ptv.2 nonsynonymous SNV exon9 c.C620T p.S207L ISRGSDDSVPVISFKDAAFDDVSGT ISRGSDDSVPVILFKDAAFDDVSGT 6.0 4.0 - - 3713_1:213414834-213414834 C>T_ISRGSDDSVPVILFKDAAFDDVSGT 0.0 3:130104133-130104133 T>G 0.0 4238 COLORECTAL - - - - COL6A5 NM_001278298,p.V596G|uc010htk.2,p.V596G|ENST00000432398,p.V596G|ENST00000265379,p.V596G|ENST00000312481,p.V596G|NM_153264,p.V596G|uc010htj.2,p.V596G protein_coding, nonsense_mediated_decay uc010htk.2 nonsynonymous SNV exon5 c.T1787G p.V596G IELQEIAGKEERVSFGQNFDALKSI IELQEIAGKEERGSFGQNFDALKSI 1.0 3.0 - - 4238_3:130104133-130104133 T>G_IELQEIAGKEERGSFGQNFDALKSI 0.0 1:237863752-237863752 G>A 0.0 4281 COLORECTAL - - - - RYR2 uc010pxz.1,p.G73R|ENST00000360064,p.G3116R|ENST00000542537,p.G3102R|ENST00000366574,p.G3118R|NM_001035,p.G3118R|uc001hyl.1,p.G3118R protein_coding, processed_transcript uc010pxz.1 nonsynonymous SNV exon4 c.G217A p.G73R SSLFEHIGQHQFGEDLILEDVQVSC SSLFEHIGQHQFREDLILEDVQVSC 4.0 7.0 - - 4281_1:237863752-237863752 G>A_SSLFEHIGQHQFREDLILEDVQVSC 0.0 16:67424869-67424869 G>A 1.0 4189 MELANOMA - - - - TPPP3 NM_015964,p.S49F|ENST00000393957,p.S49F|NM_016140,p.S49F|uc002etb.3,p.S49F|uc002esz.3,p.S49F|ENST00000290942,p.S49F|ENST00000564104,p.S49F|ENST00000562206,p.S49F|uc002eta.3,p.S49F retained_intron, protein_coding uc002etb.3 nonsynonymous SNV exon2 c.C146T p.S49F KLCKDCKVADGKSVTGTDVDIVFSK KLCKDCKVADGKFVTGTDVDIVFSK 6.0 7.0 - - 4189_16:67424869-67424869 G>A_KLCKDCKVADGKFVTGTDVDIVFSK 0.0 1:11585322-11585322 C>G 1.0 4259 COLORECTAL - - - - PTCHD2 ENST00000294484,p.P856A|ENST00000389575,p.P856A|NM_020780,p.P856A|uc001asi.1,p.P856A|uc001ash.4,p.P856A protein_coding, processed_transcript uc001asi.1 nonsynonymous SNV exon11 c.C2566G p.P856A VYRLSLNASLPAPWQAVSPGDGEVP VYRLSLNASLPAAWQAVSPGDGEVP 3.0 9.0 - - 4259_1:11585322-11585322 C>G_VYRLSLNASLPAAWQAVSPGDGEVP 0.0 16:88722107-88722107 G>A 1.0 3466 MELANOMA - - - - MVD uc002flg.1,p.T212I|ENST00000569177,p.T246I|NM_002461,p.T212I|uc002flf.1,p.T81I|ENST00000301012,p.T212I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002flg.1 nonsynonymous SNV exon6 c.C635T p.T212I LVVSAEKKLTGSTVGMRASVETSPL LVVSAEKKLTGSIVGMRASVETSPL 4.0 2.0 - - 3466_16:88722107-88722107 G>A_LVVSAEKKLTGSIVGMRASVETSPL 0.0 1:156815580-156815580 C>T 0.0 3998 MELANOMA - - - - INSRR uc010pht.2,p.D669N|ENST00000368195,p.D669N|NM_014215,p.D669N protein_coding uc010pht.2 nonsynonymous SNV exon10 c.G2005A p.D669N CHRGLRLPTSNNDPRFDGEDGDPEA CHRGLRLPTSNNNPRFDGEDGDPEA 1.0 9.0 - - 3998_1:156815580-156815580 C>T_CHRGLRLPTSNNNPRFDGEDGDPEA 0.0 1:148346658-148346658 C>A 1.0 4326 BREAST - - - - NBPF14,NBPF8,NBPF9 uc031pon.1,p.Q33H|NM_001277444,p.Q33H protein_coding uc031pon.1 nonsynonymous SNV exon2 c.G99T p.Q33H NEKLRPQLAENKQQFGNLKERCFLT NEKLRPQLAENKHQFGNLKERCFLT 10.0 7.0 - - 4326_1:148346658-148346658 C>A_NEKLRPQLAENKHQFGNLKERCFLT 0.0 7:72858409-72858409 C>T 1.0 4317 COLORECTAL - - - - BAZ1B uc003tyc.3,p.A1299T|ENST00000404251,p.A1299T|NM_032408,p.A1299T|ENST00000339594,p.A1299T retained_intron, protein_coding uc003tyc.3 nonsynonymous SNV exon17 c.G3895A p.A1299T TIRGKHSVIPPAARSGRRPGKKPHS TIRGKHSVIPPATRSGRRPGKKPHS 8.0 5.0 - - 4317_7:72858409-72858409 C>T_TIRGKHSVIPPATRSGRRPGKKPHS 0.0 X:122599628-122599628 G>A 0.0 4316 COLORECTAL - - - - GRIA3 ENST00000542149,p.G810S protein_coding, processed_transcript ENST00000542149 nonsynonymous SNV exon14 c.G2428A p.G810S WWYDKGECGSGGGDSKNACKPCSIE WWYDKGECGSGGSDSKNACKPCSIE 2.0 6.0 - - 4316_X:122599628-122599628 G>A_WWYDKGECGSGGSDSKNACKPCSIE 0.0 15:51783797-51783797 G>A 0.0 4158 COLORECTAL - - - - DMXL2 ENST00000449909,p.T1008M|NM_001174117,p.T1008M|uc010ufy.2,p.T1644M|NM_001174116,p.T1644M|NM_015263,p.T1644M|uc010bfa.3,p.T1008M|ENST00000543779,p.T1644M|uc002abf.3,p.T1644M|ENST00000251076,p.T1644M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ufy.2 nonsynonymous SNV exon20 c.C4931T p.T1644M AMGIGWWVRNINTLRRCIEKVAKAS AMGIGWWVRNINMLRRCIEKVAKAS 7.0 6.0 - - 4158_15:51783797-51783797 G>A_AMGIGWWVRNINMLRRCIEKVAKAS 0.0 17:76450615-76450615 C>T 0.0 3795 MELANOMA - - ID=COSM1710851;OCCURENCE=1(skin) - DNAH17 NM_173628,p.G3448E|uc010dhp.2,p.G3448E|ENST00000389840,p.G3434E|ENST00000585328,p.G3443E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010dhp.2 nonsynonymous SNV exon64 c.G10343A p.G3448E ERWPLIVDAQLQGIKWIKNKYRSEL ERWPLIVDAQLQEIKWIKNKYRSEL 2.0 10.0 - - 3795_17:76450615-76450615 C>T_ERWPLIVDAQLQEIKWIKNKYRSEL 0.0 4:62897173-62897173 G>T 0.0 4110 BILE DUCT - - - - LPHN3 ENST00000506746,p.G1137C|ENST00000506700,p.G1069C|ENST00000507164,p.G1137C|ENST00000514996,p.G1069C|ENST00000514157,p.G1069C|ENST00000511324,p.G1137C|uc003hct.3,p.G462C|ENST00000507625,p.G1137C retained_intron, protein_coding, processed_transcript uc003hct.3 nonsynonymous SNV exon10 c.G1384T p.G462C SGCLDNIKSWVIGAIALLCLLGLTW SGCLDNIKSWVICAIALLCLLGLTW 1.0 7.0 - - 4110_4:62897173-62897173 G>T_SGCLDNIKSWVICAIALLCLLGLTW 0.0 17:10406444-10406444 G>C 0.0 4346 COLORECTAL - - - - MYH1 uc002gmo.3,p.A938G|ENST00000226207,p.A938G|NM_005963,p.A938G protein_coding uc002gmo.3 nonsynonymous SNV exon23 c.C2813G p.A938G VTERAEDEEEINAELTAKKRKLEDE VTERAEDEEEINGELTAKKRKLEDE 1.0 7.0 - - 4346_17:10406444-10406444 G>C_VTERAEDEEEINGELTAKKRKLEDE 0.0 5:176023834-176023834 G>- 0.0 4189 MELANOMA - - - - GPRIN1 uc021yif.1,p.S1001fs|NM_052899,p.S1001fs|uc003meo.1,p.S1001fs|ENST00000303991,p.S1001fs protein_coding uc021yif.1 frameshift deletion exon1 c.3002delC p.S1001fs ALLQSVRRPRCCSRAGPTAE ALLQSVRRPRCCCGRDPRPS 4.0 10.0 - - 4189_5:176023834-176023834 G>-_ALLQSVRRPRCCCGRDPRPS 0.0 10:122630798-122630798 C>T 1.0 3466 MELANOMA - - ID=COSM915456;OCCURENCE=2(endometrium) - WDR11 ENST00000263461,p.R471C|NM_018117,p.R471C|uc010qte.2,p.R73C|uc021pzt.1,p.R471C|ENST00000604585,p.R212C protein_coding, processed_transcript uc021pzt.1 nonsynonymous SNV exon10 c.C1411T p.R471C LLSGLPAPQFAIRMCPPLTTKNIKM LLSGLPAPQFAICMCPPLTTKNIKM 9.0 7.0 - - 3466_10:122630798-122630798 C>T_LLSGLPAPQFAICMCPPLTTKNIKM 0.0 7:44579272-44579272 G>A 0.0 4095 COLORECTAL - - - - NPC1L1 NM_001101648,p.R242C|uc011kbw.2,p.R242C|NM_013389,p.R242C|ENST00000381160,p.R242C|uc003tlc.3,p.R242C|uc003tlb.3,p.R242C|ENST00000546276,p.R242C|NM_001300967,p.R242C|ENST00000423141,p.R242C|uc003tld.3,p.R242C|ENST00000289547,p.R242C protein_coding uc011kbw.2 nonsynonymous SNV exon2 c.C724T p.R242C GSGIQPLNEGVARCNESQGDDVATC GSGIQPLNEGVACCNESQGDDVATC 3.0 8.0 - - 4095_7:44579272-44579272 G>A_GSGIQPLNEGVACCNESQGDDVATC 0.0 16:30750384-30750384 G>T 0.0 3919 MELANOMA - - - - SRCAP NM_006662,p.G3008V|ENST00000380361,p.G2831V|uc002dzg.1,p.G2803V|ENST00000262518,p.G3008V|ENST00000344771,p.G2850V|ENST00000395059,p.G2946V|uc002dze.1,p.G3008V retained_intron, protein_coding, nonsense_mediated_decay uc002dzg.1 nonsynonymous SNV exon29 c.G8408T p.G2803V VTISTSPPKRKRGRPPKNPPSPRPS VTISTSPPKRKRVRPPKNPPSPRPS 9.0 2.0 - - 3919_16:30750384-30750384 G>T_VTISTSPPKRKRVRPPKNPPSPRPS 0.0 20:33934891-33934891 T>C 1.0 3713 MELANOMA - - - - UQCC1 ENST00000397554,p.K217E|uc002xci.1,p.K171E|uc010gfd.2,p.K203E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010gfd.2 nonsynonymous SNV exon7 c.A607G p.K203E REGFEFGVLSVVKWPCF REGFEFGVLSVVEWPCF 10.0 9.0 - - 3713_20:33934891-33934891 T>C_REGFEFGVLSVVEWPCF 0.0 4:68490723-68490723 C>T 1.0 2369 MELANOMA - - - - UBA6 uc003hdg.4,p.V901I|ENST00000322244,p.V901I|NM_018227,p.V901I retained_intron, protein_coding, nonsense_mediated_decay uc003hdg.4 nonsynonymous SNV exon29 c.G2701A p.V901I KIIPAIATTTATVSGLVALEMIKVT KIIPAIATTTATISGLVALEMIKVT 7.0 9.0 - - 2369_4:68490723-68490723 C>T_KIIPAIATTTATISGLVALEMIKVT 0.0 19:47260044-47260044 T>G 1.0 4134 NSCLC - - - - FKRP uc002pfp.2,p.L446R|uc002pfn.2,p.L446R|ENST00000318584,p.L446R|NM_001039885,p.L446R|NM_024301,p.L446R|uc021uwj.1,p.L446R|ENST00000391909,p.L446R retained_intron, protein_coding, processed_transcript uc021uwj.1 nonsynonymous SNV exon1 c.T1337G p.L446R DHRQDVEFPEHFLQPLVPLPFAGFV DHRQDVEFPEHFRQPLVPLPFAGFV 5.0 9.0 - - 4134_19:47260044-47260044 T>G_DHRQDVEFPEHFRQPLVPLPFAGFV 0.0 9:43627176-43627176 G>T 0.0 4298 COLORECTAL - - ID=COSM608783;OCCURENCE=1(lung) - SPATA31A6 uc011lrb.2,p.P504Q|NM_001145196,p.P504Q|ENST00000332857,p.P504Q protein_coding, processed_transcript uc011lrb.2 nonsynonymous SNV exon4 c.C1511A p.P504Q QAEAQAHLQSSFPVLSPAFPSLIKN QAEAQAHLQSSFQVLSPAFPSLIKN 4.0 7.0 - - 4298_9:43627176-43627176 G>T_QAEAQAHLQSSFQVLSPAFPSLIKN 0.0 20:18608800-18608800 C>T 1.0 4180 BREAST - - - - DTD1 ENST00000377452,p.H134Y|uc002wrf.4,p.H134Y|NM_080820,p.H134Y protein_coding, processed_transcript uc002wrf.4 nonsynonymous SNV exon4 c.C400T p.H134Y IKDGKFGAYMQVHIQNDGPVTIELE IKDGKFGAYMQVYIQNDGPVTIELE 9.0 8.0 - - 4180_20:18608800-18608800 C>T_IKDGKFGAYMQVYIQNDGPVTIELE 0.0 1:39759215-39759215 A>G 1.0 4335 COLORECTAL - - - - MACF1 ENST00000564288,p.E693G|ENST00000361689,p.E698G|uc001cda.1,p.E606G|ENST00000567887,p.E730G|uc031pmc.1,p.E698G|uc021olt.1,p.E698G|uc001cdc.2,p.E698G|ENST00000539005,p.E698G|ENST00000372915,p.E698G|ENST00000545844,p.E698G|ENST00000496804,p.E858G|ENST00000317713,p.E698G|ENST00000530262,p.E847G|ENST00000524432,p.E656G|NM_012090,p.E698G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031pmc.1 nonsynonymous SNV exon17 c.A2093G p.E698G VSRATAELIWLNEKEEEELAYDWSD VSRATAELIWLNGKEEEELAYDWSD 10.0 3.0 - - 4335_1:39759215-39759215 A>G_VSRATAELIWLNGKEEEELAYDWSD 0.0 13:101936359-101936359 T>G 0.0 4278 COLORECTAL - - ID=COSM1365222;OCCURENCE=1(large_intestine) - NALCN NM_052867,p.E353D|ENST00000376196,p.E353D|uc001voz.2,p.E353D|ENST00000251127,p.E353D|uc001voy.3,p.E68D|uc001vpa.2,p.E353D|uc001vox.1,p.E353D retained_intron, protein_coding, processed_transcript uc001vpa.2 nonsynonymous SNV exon10 c.A1059C p.E353D STTSTATTQMFHEDAAGGWQLVAVD STTSTATTQMFHDDAAGGWQLVAVD 6.0 1.0 - - 4278_13:101936359-101936359 T>G_STTSTATTQMFHDDAAGGWQLVAVD 0.0 2:189434788-189434788 A>- 1.0 4078 GASTRIC - - - - GULP1 ENST00000409805,p.K81fs|uc010zfw.2,p.K81fs|uc002uqg.3,p.K184fs|ENST00000409830,p.K184fs|NM_001252669,p.K81fs|uc002uqf.3,p.K184fs|NM_001252668,p.K184fs|uc002uqd.3,p.K184fs|ENST00000359135,p.K184fs|uc010fru.3,p.K184fs|ENST00000409843,p.K184fs|NM_016315,p.K184fs|ENST00000409609,p.K184fs|ENST00000409580,p.K184fs retained_intron, protein_coding, processed_transcript uc010zfw.2 frameshift deletion exon6 c.241delA p.K81fs RIQDLETENMELKNKVQDLENQLRI RIQDLETENMELKIKYKIWKTN 9.0 5.0 - - 4078_2:189434788-189434788 A>-_RIQDLETENMELKIKYKIWKTN 0.0 15:88669548-88669548 G>T 0.0 4316 COLORECTAL - - - 1 NTRK3 ENST00000357724,p.F442L|uc002bmh.2,p.F442L|ENST00000560017,p.F54L|ENST00000355254,p.F450L|uc010bnh.1,p.F442L|uc002bme.2,p.F450L|ENST00000317501,p.F450L|uc002bmg.3,p.F450L|uc021sua.1,p.F442L|NM_001012338,p.F450L|NM_001007156,p.F450L|uc002bmf.2,p.F450L|ENST00000394480,p.F450L|ENST00000558676,p.F442L|ENST00000540489,p.F450L|NM_002530,p.F450L|ENST00000542733,p.F352L|uc010upl.1,p.F352L|NM_001243101,p.F442L|ENST00000557856,p.F442L|ENST00000360948,p.F450L protein_coding, processed_transcript uc021sua.1 nonsynonymous SNV exon12 c.C1326A p.F442L LAAFACVLLVVLFVMINKYGRRSKF LAAFACVLLVVLLVMINKYGRRSKF 5.0 5.0 - - 4316_15:88669548-88669548 G>T_LAAFACVLLVVLLVMINKYGRRSKF 0.0 10:89692850-89692850 C>G 0.0 4238 COLORECTAL - - ID=COSM5199;OCCURENCE=2(central_nervous_system),3(endometrium) 1 PTEN NM_000314,p.L112V|ENST00000371953,p.L112V|uc001kfb.3,p.L112V protein_coding, processed_transcript uc001kfb.3 nonsynonymous SNV exon5 c.C334G p.L112V LIKPFCEDLDQWLSEDDNHVAAIHC LIKPFCEDLDQWVSEDDNHVAAIHC 8.0 10.0 - - 4238_10:89692850-89692850 C>G_LIKPFCEDLDQWVSEDDNHVAAIHC 0.0 5:1443228-1443228 C>A 0.0 4110 BILE DUCT - - - - SLC6A3 ENST00000270349,p.V29L|uc003jck.3,p.V29L|ENST00000453492,p.V29L|NM_001044,p.V29L retained_intron, protein_coding uc003jck.3 nonsynonymous SNV exon2 c.G85T p.V29L PAKEPNAVGPKEVELILVKEQNGVQ PAKEPNAVGPKELELILVKEQNGVQ 4.0 6.0 - - 4110_5:1443228-1443228 C>A_PAKEPNAVGPKELELILVKEQNGVQ 0.0 X:148579752-148579752 G>T 0.0 4129 NSCLC - - - - IDS ENST00000370443,p.D198E|uc011mxf.2,p.D108E|uc011mxe.2,p.D198E|NM_000202,p.D198E|ENST00000340855,p.D198E|uc011mxh.2,p.D198E|NM_006123,p.D198E|NM_001166550,p.D108E|ENST00000370441,p.D198E|ENST00000466323,p.D198E protein_coding, processed_transcript, nonsense_mediated_decay uc011mxh.2 nonsynonymous SNV exon5 c.C594A p.D198E VDVLDVPEGTLPDKQSTEQAIQLLE VDVLDVPEGTLPEKQSTEQAIQLLE 8.0 9.0 - - 4129_X:148579752-148579752 G>T_VDVLDVPEGTLPEKQSTEQAIQLLE 0.0 20:18496337-18496337 C>T 1.0 3716 MELANOMA - - - - SEC23B ENST00000377465,p.A108V|uc010zsb.2,p.A108V|NM_006363,p.A108V|uc002wqz.2,p.A108V|ENST00000336714,p.A108V|uc002wrc.2,p.A108V|NM_032986,p.A108V|ENST00000450074,p.A108V|ENST00000377475,p.A108V|ENST00000262544,p.A108V|NM_001172745,p.A108V|uc002wrb.2,p.A108V|uc002wra.2,p.A108V|NM_001172746,p.A108V|NM_032985,p.A108V protein_coding, processed_transcript uc010zsb.2 nonsynonymous SNV exon4 c.C323T p.A108V PAYGGISEVNQPAELMPQFSTIEYV PAYGGISEVNQPVELMPQFSTIEYV 7.0 8.0 - - 3716_20:18496337-18496337 C>T_PAYGGISEVNQPVELMPQFSTIEYV 0.0 5:175533088-175533088 G>C 0.0 4326 BREAST - rs4613734 - - FAM153B uc031smc.1,p.V263L|ENST00000508296,p.V186L|NM_001265615,p.V186L|ENST00000515817,p.V186L|ENST00000253490,p.V263L|ENST00000512862,p.V54L|uc031sma.1,p.V54L|uc031smd.1,p.V52L|ENST00000510151,p.V186L|uc031smb.1,p.V186L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031smd.1 nonsynonymous SNV exon5 c.G154C p.V52L PQRGDLEDLEEHVPGQTVSEEATGV PQRGDLEDLEEHLPGQTVSEEATGV 5.0 6.0 - - 4326_5:175533088-175533088 G>C_PQRGDLEDLEEHLPGQTVSEEATGV 0.0 15:84527554-84527554 G>A 0.0 4252 COLORECTAL - - - - ADAMTSL3 uc002bjy.1,p.R255Q|ENST00000286744,p.R255Q|uc010bmt.1,p.R255Q|NM_001301110,p.R255Q|NM_207517,p.R255Q|ENST00000567476,p.R255Q|uc002bjz.4,p.R255Q retained_intron, protein_coding, processed_transcript uc010bmt.1 nonsynonymous SNV exon8 c.G764A p.R255Q REENVIAVPLGSRSVRITVKGPAHL REENVIAVPLGSQSVRITVKGPAHL 4.0 10.0 - - 4252_15:84527554-84527554 G>A_REENVIAVPLGSQSVRITVKGPAHL 0.0 17:70119866-70119866 G>A 1.0 3713 MELANOMA - - - - SOX9 NM_000346,p.D290N|ENST00000245479,p.D290N|uc002jiw.3,p.D290N protein_coding uc002jiw.3 nonsynonymous SNV exon3 c.G868A p.D290N LSSDVISNIETFDVNEFDQYLPPNG LSSDVISNIETFNVNEFDQYLPPNG 2.0 2.0 - - 3713_17:70119866-70119866 G>A_LSSDVISNIETFNVNEFDQYLPPNG 0.0 15:88472566-88472566 G>C 0.0 4213 COLORECTAL - - - 1 NTRK3 uc010bnh.1,p.I655M|uc002bmf.2,p.I663M|NM_001012338,p.I663M|uc002bme.2,p.I663M|ENST00000557856,p.I655M|NM_002530,p.I663M|ENST00000357724,p.I655M|ENST00000542733,p.I565M|ENST00000360948,p.I663M|ENST00000355254,p.I663M|ENST00000558676,p.I655M|uc021sua.1,p.I655M|uc002bmh.2,p.I655M|NM_001243101,p.I655M|ENST00000394480,p.I663M|uc010upl.1,p.I565M protein_coding, processed_transcript uc021sua.1 nonsynonymous SNV exon16 c.C1965G p.I655M LGLSQMLHIASQIASGMVYLASQHF LGLSQMLHIASQMASGMVYLASQHF 7.0 8.0 - - 4213_15:88472566-88472566 G>C_LGLSQMLHIASQMASGMVYLASQHF 0.0 5:140594035-140594035 C>T 1.0 4000 MELANOMA - - - - PCDHB13 NM_018933,p.P114S|ENST00000341948,p.P114S|uc003lja.1,p.P114S protein_coding uc003lja.1 nonsynonymous SNV exon1 c.C340T p.P114S PCVLRFQVLLESPFEFFQAELQVID PCVLRFQVLLESSFEFFQAELQVID 4.0 10.0 - - 4000_5:140594035-140594035 C>T_PCVLRFQVLLESSFEFFQAELQVID 0.0 1:55266772-55266772 G>A 1.0 3775 CERVICAL - - - - TTC22 NM_001114108,p.P22L|uc001cxz.4,p.P22L|ENST00000371276,p.P22L|uc009vzt.1,p.P22L|NM_017904,p.P22L|ENST00000371274,p.P22L retained_intron, protein_coding uc009vzt.1 nonsynonymous SNV exon1 c.C65T p.P22L DLDALIDDLDYLPGHFHLEMQLNFE DLDALIDDLDYLLGHFHLEMQLNFE 6.0 8.0 - - 3775_1:55266772-55266772 G>A_DLDALIDDLDYLLGHFHLEMQLNFE 0.0 15:74631600-74631600 C>T 0.0 4110 BILE DUCT - - - - CYP11A1 uc002axt.2,p.R405Q|uc002axs.2,p.R247Q|uc010bjn.2,p.R128Q|ENST00000358632,p.R247Q|uc010bjm.1,p.R247Q|ENST00000268053,p.R405Q|NM_001099773,p.R247Q|ENST00000419019,p.R247Q|NM_000781,p.R405Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010bjn.2 nonsynonymous SNV exon6 c.G383A p.R128Q TLQRYLVNDLVLRDYMIPAKTLVQV TLQRYLVNDLVLQDYMIPAKTLVQV 2.0 8.0 - - 4110_15:74631600-74631600 C>T_TLQRYLVNDLVLQDYMIPAKTLVQV 0.0 2:71220866-71220866 T>C 1.0 2369 MELANOMA - - - - TEX261 uc002shn.3,p.Y37C|NM_144582,p.Y37C|ENST00000433258,p.Y37C|ENST00000606025,p.Y37C|ENST00000272438,p.Y37C processed_transcript, nonsense_mediated_decay,retained_intron, protein_coding uc002shn.3 nonsynonymous SNV exon2 c.A110G p.Y37C AGLYYLAELIEEYTVATSRIIKYMI AGLYYLAELIEECTVATSRIIKYMI 8.0 7.0 - - 2369_2:71220866-71220866 T>C_AGLYYLAELIEECTVATSRIIKYMI 0.0 2:206614520-206614520 G>A 1.0 4287 COLORECTAL - - - - NRP2 uc002vay.3,p.E620K|ENST00000360409,p.E620K|NM_201279,p.E620K|uc002vau.3,p.E620K|NM_003872,p.E620K|ENST00000540841,p.E620K|NM_201267,p.E620K|NM_201266,p.E620K|uc002vax.3,p.E620K|ENST00000412873,p.E620K|ENST00000357785,p.E620K|ENST00000540178,p.E620K|NM_018534,p.E620K|ENST00000357118,p.E620K|ENST00000272849,p.E620K|uc002vav.3,p.E620K|uc002vaw.3,p.E620K retained_intron, protein_coding, processed_transcript uc002vay.3 nonsynonymous SNV exon11 c.G1858A p.E620K VKSEETTTPYPTEEEATECGENCSF VKSEETTTPYPTKEEATECGENCSF 7.0 9.0 - - 4287_2:206614520-206614520 G>A_VKSEETTTPYPTKEEATECGENCSF 0.0 12:120599720-120599720 G>A 1.0 3713 MELANOMA - - - - GCN1L1 ENST00000300648,p.P769L|uc001txo.3,p.P769L|NM_006836,p.P769L retained_intron, protein_coding uc001txo.3 nonsynonymous SNV exon21 c.C2306T p.P769L LVTREEFAIMQTPAGELYDKSIIQS LVTREEFAIMQTLAGELYDKSIIQS 6.0 4.0 CD8 - 3713_12:120599720-120599720 G>A_LVTREEFAIMQTLAGELYDKSIIQS 1.0 15:41797669-41797669 C>T 1.0 4136 BREAST 0.0005 - - - LTK NM_206961,p.R525H|uc010ucx.1,p.R456H|uc001zob.3,p.R525H|ENST00000453182,p.R456H|ENST00000355166,p.R525H|NM_001135685,p.R456H|ENST00000561619,p.R284H|ENST00000263800,p.R586H|uc001zoa.3,p.R586H|uc010bcg.2,p.R284H|NM_002344,p.R586H retained_intron, protein_coding uc010ucx.1 nonsynonymous SNV exon12 c.G1367A p.R456H VRCVGLSLRATPRLILLELMSGGDM VRCVGLSLRATPHLILLELMSGGDM 5.0 10.0 - - 4136_15:41797669-41797669 C>T_VRCVGLSLRATPHLILLELMSGGDM 0.0 3:43097768-43097768 G>A 0.0 4346 COLORECTAL - - - - FAM198A uc003cmp.4,p.G540R|ENST00000273146,p.G540R|NM_001129908,p.G540R|ENST00000430121,p.G540R|ENST00000488863,p.G111R retained_intron, protein_coding, nonsense_mediated_decay uc003cmp.4 nonsynonymous SNV exon5 c.G1618A p.G540R LQMDPVFWESQGGAQGLKQVLQTLE LQMDPVFWESQGRAQGLKQVLQTLE 2.0 8.0 - - 4346_3:43097768-43097768 G>A_LQMDPVFWESQGRAQGLKQVLQTLE 0.0 19:50824024-50824024 C>T 1.0 3716 MELANOMA - - - - KCNC3 uc002prt.1,p.D302N|ENST00000477616,p.D666N|uc002pru.1,p.D666N|ENST00000376959,p.D666N|NM_004977,p.D666N protein_coding uc002pru.1 nonsynonymous SNV exon3 c.G1996A p.D666N IEINRADPRPNGDPAAAALAHEDCP IEINRADPRPNGNPAAAALAHEDCP 2.0 10.0 - - 3716_19:50824024-50824024 C>T_IEINRADPRPNGNPAAAALAHEDCP 0.0 7:42007425-42007425 C>A 0.0 4077 BILE DUCT - - - - GLI3 uc011kbh.2,p.D734Y|ENST00000395925,p.D734Y|uc011kbg.2,p.D675Y|NM_000168,p.D734Y retained_intron, protein_coding, processed_transcript uc011kbh.2 nonsynonymous SNV exon14 c.G2200T p.D734Y NYSNSGLELPLTDGGSIGDLSAIDE NYSNSGLELPLTYGGSIGDLSAIDE 6.0 5.0 - - 4077_7:42007425-42007425 C>A_NYSNSGLELPLTYGGSIGDLSAIDE 0.0 17:1960105-1960105 G>A 0.0 4335 COLORECTAL - - - - HIC1 ENST00000322941,p.A60T|uc002ftz.4,p.A41T|NM_001098202,p.A60T|ENST00000399849,p.A41T|uc002fty.4,p.A41T|uc021tnn.1,p.A41T|ENST00000571990,p.A41T|NM_006497,p.A41T|uc010cjy.3,p.A60T|ENST00000576444,p.A41T protein_coding, processed_transcript uc021tnn.1 nonsynonymous SNV exon1 c.G121A p.A41T DVIIVVQNALFRAHKNVLAASSAYL DVIIVVQNALFRTHKNVLAASSAYL 5.0 10.0 - - 4335_17:1960105-1960105 G>A_DVIIVVQNALFRTHKNVLAASSAYL 0.0 3:197544140-197544140 A>C 0.0 4245 COLORECTAL - - - - LRCH3 uc011bum.1,p.E167D|ENST00000334859,p.E167D|ENST00000425562,p.E167D|NM_032773,p.E167D|ENST00000438796,p.E167D|uc011bul.1,p.E167D|ENST00000414675,p.E167D|uc003fyj.1,p.E167D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bum.1 nonsynonymous SNV exon3 c.A501C p.E167D LIASNNKLVSLPEEIGHLRHLMELD LIASNNKLVSLPDEIGHLRHLMELD 8.0 2.0 - - 4245_3:197544140-197544140 A>C_LIASNNKLVSLPDEIGHLRHLMELD 0.0 8:82583178-82583178 G>A 1.0 4000 MELANOMA - - - - IMPA1 NM_001144878,p.H247Y|ENST00000449740,p.H247Y|ENST00000256108,p.H188Y|uc011lfq.1,p.H247Y|NM_005536,p.H188Y|uc003ych.2,p.H188Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011lfq.1 nonsynonymous SNV exon8 c.C739T p.H247Y LSNMEKLFCIPVHGIRSVGTAAVNM LSNMEKLFCIPVYGIRSVGTAAVNM 9.0 2.0 - - 4000_8:82583178-82583178 G>A_LSNMEKLFCIPVYGIRSVGTAAVNM 0.0 4:109774059-109774059 G>A 0.0 4287 COLORECTAL - - - - COL25A1 NM_198721,p.T448M|uc003hzg.4,p.T448M|uc021xqp.2,p.T448M|ENST00000494183,p.T376M|ENST00000399126,p.T448M|uc003hze.2,p.T448M|NM_032518,p.T448M|ENST00000399132,p.T448M|uc021xqo.1,p.T448M retained_intron, protein_coding, nonsense_mediated_decay uc021xqp.2 nonsynonymous SNV exon24 c.C1343T p.T448M HEALQRITTLTVTGPPGPPGPQGLQ HEALQRITTLTVMGPPGPPGPQGLQ 2.0 9.0 - - 4287_4:109774059-109774059 G>A_HEALQRITTLTVMGPPGPPGPQGLQ 0.0 2:219269106-219269106 C>G 1.0 4326 BREAST - - - - CTDSP1 uc002vhz.3,p.D107E|NM_001206878,p.D247E|ENST00000273062,p.D248E|NM_182642,p.D247E|ENST00000443891,p.D247E|uc002vhx.3,p.D247E|uc002vhy.3,p.D248E|uc021vwv.1,p.D247E|NM_021198,p.D248E retained_intron, protein_coding, processed_transcript uc021vwv.1 nonsynonymous SNV exon7 c.C741G p.D247E DLLPFFEQLSRVDDVYSVLRQPRPG DLLPFFEQLSRVEDVYSVLRQPRPG 8.0 8.0 - - 4326_2:219269106-219269106 C>G_DLLPFFEQLSRVEDVYSVLRQPRPG 0.0 14:105413454-105413454 G>C 1.0 4266 COLORECTAL - - - - AHNAK2 NM_138420,p.S2778R|uc001ypx.2,p.S2678R|uc010axc.1,p.S2778R|ENST00000333244,p.S2778R retained_intron, protein_coding uc010axc.1 nonsynonymous SNV exon7 c.C8334G p.S2778R EVTAPDVKMSLSSMEVDVQAPRAKL EVTAPDVKMSLSRMEVDVQAPRAKL 9.0 9.0 - - 4266_14:105413454-105413454 G>C_EVTAPDVKMSLSRMEVDVQAPRAKL 0.0 17:74287468-74287468 G>A 1.0 2591 MELANOMA - - - - QRICH2 uc002jrd.1,p.R948C|NM_032134,p.R948C|ENST00000262765,p.R948C protein_coding, nonsense_mediated_decay uc002jrd.1 nonsynonymous SNV exon4 c.C2842T p.R948C LFDSHDSMYPGYRGPGYLSADQHGQ LFDSHDSMYPGYCGPGYLSADQHGQ 4.0 4.0 - - 2591_17:74287468-74287468 G>A_LFDSHDSMYPGYCGPGYLSADQHGQ 0.0 10:74097970-74097970 T>C 1.0 4071 COLORECTAL - - - - DNAJB12 ENST00000394903,p.S309G|NM_017626,p.S309G|ENST00000338820,p.S309G|uc001jsz.2,p.S309G|uc001jta.2,p.S309G|uc010qjv.1,p.S309G|ENST00000444643,p.S275G|NM_001002762,p.S309G retained_intron, protein_coding, processed_transcript uc010qjv.1 nonsynonymous SNV exon6 c.A925G p.S309G SQLMVSSPPYSLSPRPSVGHIHRRV SQLMVSSPPYSLGPRPSVGHIHRRV 7.0 6.0 - - 4071_10:74097970-74097970 T>C_SQLMVSSPPYSLGPRPSVGHIHRRV 0.0 7:65557846-65557846 G>A 1.0 4160 COLORECTAL - - - - ASL ENST00000380839,p.V422I|ENST00000395332,p.V448I|ENST00000304874,p.V448I|uc003tuo.3,p.V448I|NM_000048,p.V448I|uc003tuq.3,p.V428I|NM_001024944,p.V428I|NM_001024943,p.V448I|ENST00000395331,p.V428I|NM_001024946,p.V422I|uc003tur.3,p.V422I|uc003tup.3,p.V448I retained_intron, protein_coding, processed_transcript uc003tur.3 nonsynonymous SNV exon15 c.G1264A p.V422I QYGALGGTARSSVDWQIRQVRALLQ QYGALGGTARSSIDWQIRQVRALLQ 10.0 1.0 - - 4160_7:65557846-65557846 G>A_QYGALGGTARSSIDWQIRQVRALLQ 0.0 17:80373484-80373484 G>A 1.0 3678 MELANOMA - - - - OGFOD3 NM_175902,p.P32S|ENST00000329197,p.P32S|NM_024648,p.P32S|ENST00000580445,p.P32S|uc002ket.2,p.P32S|uc002keu.2,p.P32S|ENST00000313056,p.P32S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002keu.2 nonsynonymous SNV exon2 c.C94T p.P32S RRNRSSTKKDRAPREVQRLWQRPWL RRNRSSTKKDRASREVQRLWQRPWL 8.0 7.0 - - 3678_17:80373484-80373484 G>A_RRNRSSTKKDRASREVQRLWQRPWL 0.0 3:124485105-124485105 C>T 1.0 3466 MELANOMA - - - - ITGB5 NM_002213,p.G702E|ENST00000296181,p.G702E|uc003eho.3,p.G702E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003eho.3 nonsynonymous SNV exon13 c.G2105A p.G702E CVMMFTYVELPSGKSNLTVLREPEC CVMMFTYVELPSEKSNLTVLREPEC 10.0 6.0 - - 3466_3:124485105-124485105 C>T_CVMMFTYVELPSEKSNLTVLREPEC 0.0 15:45427464-45427464 G>A 0.0 4301 MELANOMA - - - - DUOX1 ENST00000561220,p.R157Q|ENST00000321429,p.R157Q|NM_017434,p.R157Q|ENST00000389037,p.R157Q|uc001zus.1,p.R157Q|uc001zut.1,p.R157Q|NM_175940,p.R157Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001zut.1 nonsynonymous SNV exon5 c.G470A p.R157Q PFQRSRWDPETGRSPSNPRDPANQV PFQRSRWDPETGQSPSNPRDPANQV 5.0 2.0 - - 4301_15:45427464-45427464 G>A_PFQRSRWDPETGQSPSNPRDPANQV 0.0 6:90305717-90305717 T>G 0.0 4345 COLORECTAL - - - - ANKRD6 uc010kcd.3,p.L68R|NM_014942,p.L68R|uc011dzy.2,p.L68R|ENST00000520458,p.L68R|ENST00000485637,p.L68R|uc003pne.4,p.L68R|ENST00000520793,p.L68R|ENST00000447838,p.L68R|ENST00000369408,p.L68R|uc003pnf.4,p.L68R|NM_001242814,p.L68R|NM_001242811,p.L68R|uc003pni.4,p.L68R|NM_001242813,p.L68R|ENST00000522705,p.L68R|ENST00000523798,p.L68R|ENST00000522441,p.L68R|ENST00000465722,p.L68R|ENST00000339746,p.L68R|NM_001242809,p.L68R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011dzy.2 nonsynonymous SNV exon3 c.T203G p.L68R PVVQILLKAGCDLDVQDDGDQTALH PVVQILLKAGCDRDVQDDGDQTALH 5.0 4.0 - - 4345_6:90305717-90305717 T>G_PVVQILLKAGCDRDVQDDGDQTALH 0.0 1:110149038-110149038 C>T 1.0 4000 MELANOMA - - ID=COSM200981;OCCURENCE=2(skin),1(large_intestine) - GNAT2 uc001dya.3,p.R161Q|ENST00000351050,p.R161Q|NM_005272,p.R161Q protein_coding uc001dya.3 nonsynonymous SNV exon5 c.G482A p.R161Q NDSASYYLNQLERITDPEYLPSEQD NDSASYYLNQLEQITDPEYLPSEQD 3.0 8.0 - - 4000_1:110149038-110149038 C>T_NDSASYYLNQLEQITDPEYLPSEQD 0.0 4:79437012-79437012 C>T 1.0 4301 MELANOMA 0.0014 - - - FRAS1 uc003hlb.2,p.R3412C|ENST00000264895,p.R3412C|NM_025074,p.R3412C retained_intron, protein_coding, nonsense_mediated_decay uc003hlb.2 nonsynonymous SNV exon66 c.C10234T p.R3412C VYDSTALGPGYDRPFQFDPSVREPK VYDSTALGPGYDCPFQFDPSVREPK 6.0 6.0 - - 4301_4:79437012-79437012 C>T_VYDSTALGPGYDCPFQFDPSVREPK 0.0 19:53453689-53453689 G>A 1.0 4189 MELANOMA - - - - ZNF816 ENST00000357666,p.H447Y|uc002qal.2,p.H447Y|NM_001202456,p.H447Y|NM_001202457,p.H447Y|NM_001031665,p.H447Y|uc021uzc.1,p.H447Y|uc002qam.2,p.H447Y|ENST00000444460,p.H447Y protein_coding uc021uzc.1 nonsynonymous SNV exon4 c.C1339T p.H447Y RSDSYLAEHQRVHTGEKPYKCNKCG RSDSYLAEHQRVYTGEKPYKCNKCG 7.0 6.0 - - 4189_19:53453689-53453689 G>A_RSDSYLAEHQRVYTGEKPYKCNKCG 0.0 18:72343813-72343813 T>G 0.0 4335 COLORECTAL - - - - ZNF407 NM_001146190,p.F280V|NM_017757,p.F280V|uc010dqu.2,p.F280V|uc002llu.2,p.F279V|ENST00000309902,p.F280V|ENST00000582337,p.F280V|NM_001146189,p.F280V|ENST00000299687,p.F280V|ENST00000577538,p.F280V|uc010xfc.2,p.F280V|uc002llw.2,p.F280V retained_intron, protein_coding, processed_transcript uc010xfc.2 nonsynonymous SNV exon1 c.T838G p.F280V HLRRQNLAARGGFVQILTKQPFPKK HLRRQNLAARGGVVQILTKQPFPKK 6.0 7.0 - - 4335_18:72343813-72343813 T>G_HLRRQNLAARGGVVQILTKQPFPKK 0.0 22:30403275-30403275 C>T 1.0 3466 MELANOMA - - - - MTMR3 ENST00000351488,p.P282S|NM_153050,p.P282S|ENST00000401950,p.P282S|uc003agw.4,p.P282S|uc003agu.4,p.P282S|NM_021090,p.P282S|ENST00000333027,p.P282S|uc003agv.4,p.P282S|NM_153051,p.P282S|ENST00000406629,p.P282S|ENST00000323630,p.P146S retained_intron, protein_coding, processed_transcript uc003agw.4 nonsynonymous SNV exon10 c.C844T p.P282S SKLSTRNTSRDFPNGGDLSDVEFDS SKLSTRNTSRDFSNGGDLSDVEFDS 9.0 8.0 - - 3466_22:30403275-30403275 C>T_SKLSTRNTSRDFSNGGDLSDVEFDS 0.0 12:53205701-53205701 G>T 1.0 4329 COLORECTAL - - - - KRT4 ENST00000458244,p.Q155K|ENST00000293774,p.Q249K|uc031qhk.1,p.Q175K|ENST00000551956,p.Q175K|NM_002272,p.Q175K retained_intron, protein_coding, nonsense_mediated_decay uc031qhk.1 nonsynonymous SNV exon2 c.C523A p.Q175K KVLETKWNLLQQQTTTTSSKNLEPL KVLETKWNLLQQKTTTTSSKNLEPL 4.0 2.0 - - 4329_12:53205701-53205701 G>T_KVLETKWNLLQQKTTTTSSKNLEPL 0.0 X:47039371-47039371 C>T 0.0 4287 COLORECTAL - - - 1 RBM10 NM_001204468,p.R397C|uc010nhq.3,p.R255C|NM_152856,p.R255C|NM_005676,p.R332C|NM_001204467,p.R332C|NM_001204466,p.R255C|ENST00000377604,p.R332C|ENST00000345781,p.R255C|ENST00000329236,p.R255C|uc004dhf.3,p.R332C|uc004dhi.3,p.R397C|uc004dhg.3,p.R255C|uc004dhh.3,p.R332C protein_coding, processed_transcript uc010nhq.3 nonsynonymous SNV exon9 c.C763T p.R255C LAPYAVLSSSNVRVIKDKQTQLNRG LAPYAVLSSSNVCVIKDKQTQLNRG 9.0 9.0 - - 4287_X:47039371-47039371 C>T_LAPYAVLSSSNVCVIKDKQTQLNRG 0.0 1:100361905-100361905 G>A 1.0 3713 MELANOMA - - - - AGL NM_000642,p.R1108K|ENST00000370165,p.R1108K|uc001dsl.1,p.R1108K|uc001dsi.1,p.R1108K|ENST00000361915,p.R1108K|NM_000646,p.R1092K|NM_000028,p.R1108K|ENST00000361522,p.R1091K|uc001dsm.1,p.R1092K|ENST00000361302,p.R1092K|NM_000644,p.R1108K|ENST00000370163,p.R1108K|uc001dsn.1,p.R1091K|uc001dsj.1,p.R1108K|ENST00000370161,p.R1092K|uc001dsk.1,p.R1108K|ENST00000294724,p.R1108K|NM_000645,p.R1091K|NM_000643,p.R1108K protein_coding, processed_transcript uc001dsn.1 nonsynonymous SNV exon23 c.G3272A p.R1091K FRCWGRDTFIALRGILLITGRYVEA FRCWGRDTFIALKGILLITGRYVEA 4.0 10.0 - - 3713_1:100361905-100361905 G>A_FRCWGRDTFIALKGILLITGRYVEA 0.0 1:156640696-156640696 G>A 1.0 4244 COLORECTAL - - ID=COSM1295244;OCCURENCE=1(urinary_tract) - NES ENST00000368223,p.A1095V|uc001fpq.3,p.A1095V|NM_006617,p.A1095V|uc021pbh.1,p.A13V protein_coding uc021pbh.1 nonsynonymous SNV exon1 c.C38T p.A13V MLGSEPAMGESAAGAEPGPGQGVGG MLGSEPAMGESAVGAEPGPGQGVGG 9.0 10.0 - - 4244_1:156640696-156640696 G>A_MLGSEPAMGESAVGAEPGPGQGVGG 0.0 21:44524456-44524456 G>A 1.0 4234 NSCLC - - ID=COSM166866,COSM1142948;OCCURENCE=3(urinary_tract),3(liver),4(pancreas),3(endometrium),14(lung),36(haematopoietic_and_lymphoid_tissue),1(stomach) 1 U2AF1 uc002zda.1,p.S34F|ENST00000291552,p.S34F|NM_001025203,p.S34F|uc010gpi.1,p.S34F|ENST00000464750,p.S34F|uc002zdc.1,p.S34F|uc002zdb.1,p.S34F|NM_006758,p.S34F|ENST00000380276,p.S34F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010gpi.1 nonsynonymous SNV exon2 c.C101T p.S34F FKIGACRHGDRCSRLHNKPTFSQTI FKIGACRHGDRCFRLHNKPTFSQTI 9.0 3.0 CD8 - 4234_21:44524456-44524456 G>A_FKIGACRHGDRCFRLHNKPTFSQTI 1.0 4:54179867-54179867 C>A 1.0 4160 COLORECTAL - - - - SCFD2 ENST00000401642,p.M357I|uc010igm.3,p.M357I|NM_152540,p.M357I|ENST00000388940,p.M357I|uc003gzu.3,p.M357I protein_coding uc010igm.3 nonsynonymous SNV exon3 c.G1071T p.M357I EALLNTKHKEAVMEVRRHLVEAASR EALLNTKHKEAVIEVRRHLVEAASR 6.0 9.0 - - 4160_4:54179867-54179867 C>A_EALLNTKHKEAVIEVRRHLVEAASR 0.0 2:182766544-182766544 C>G 1.0 3775 CERVICAL - - - - SSFA2 ENST00000409001,p.S255C|NM_001287504,p.S102C|NM_006751,p.S255C|ENST00000320370,p.S255C|uc002uoh.3,p.S255C|uc002uoi.3,p.S255C|NM_001287503,p.S255C|ENST00000428267,p.S102C|ENST00000431877,p.S255C|uc002uol.3,p.S102C|uc002uoj.3,p.S255C|NM_001130445,p.S255C|uc010zfo.2,p.S102C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010zfo.2 nonsynonymous SNV exon7 c.C305G p.S102C IEVLTTVANAFSSLYSQVSGTPLQR IEVLTTVANAFSCLYSQVSGTPLQR 9.0 8.0 - - 3775_2:182766544-182766544 C>G_IEVLTTVANAFSCLYSQVSGTPLQR 0.0 1:232942770-232942770 A>C 0.0 4238 COLORECTAL - - - - MAP10 uc001hvh.2,p.R667S|NM_019090,p.R667S|ENST00000418460,p.R667S protein_coding uc001hvh.2 nonsynonymous SNV exon1 c.A2001C p.R667S DMLVVHEKRELYRKRQSQMLGTKFR DMLVVHEKRELYSKRQSQMLGTKFR 3.0 4.0 - - 4238_1:232942770-232942770 A>C_DMLVVHEKRELYSKRQSQMLGTKFR 0.0 4:183713545-183713545 C>T 0.0 3919 MELANOMA - - - - TENM3 ENST00000511685,p.S1907F|NM_001080477,p.S1907F|ENST00000406950,p.S1907F|uc003ivd.1,p.S1907F retained_intron, protein_coding, processed_transcript uc003ivd.1 nonsynonymous SNV exon25 c.C5720T p.S1907F PSVARHTMQTIRSIGYYRNIYNPPE PSVARHTMQTIRFIGYYRNIYNPPE 1.0 10.0 - - 3919_4:183713545-183713545 C>T_PSVARHTMQTIRFIGYYRNIYNPPE 0.0 1:114523784-114523784 T>A 1.0 3919 MELANOMA - - - - OLFML3 NM_020190,p.F205Y|ENST00000320334,p.F205Y|NM_001286353,p.F144Y|uc001ees.1,p.F185Y|NM_001286352,p.F185Y|ENST00000369551,p.F185Y|uc001eer.1,p.F205Y|uc001eet.1,p.F61Y|ENST00000393300,p.F185Y protein_coding, processed_transcript uc001eet.1 nonsynonymous SNV exon2 c.T182A p.F61Y MAARKASRVRVPFPWVGTGQLVYGG MAARKASRVRVPYPWVGTGQLVYGG 4.0 6.0 - - 3919_1:114523784-114523784 T>A_MAARKASRVRVPYPWVGTGQLVYGG 0.0 19:44512958-44512958 A>G 0.0 4320 COLORECTAL - - - - ZNF230 ENST00000429154,p.K11R|uc002oyb.1,p.K11R|ENST00000585568,p.K11R|ENST00000585632,p.K11R|NM_006300,p.K11R|ENST00000585491,p.K11R retained_intron, protein_coding, nonsense_mediated_decay uc002oyb.1 nonsynonymous SNV exon3 c.A32G p.K11R MTTFKEAVTFKDVAVFFTEEELG MTTFKEAVTFRDVAVFFTEEELG 6.0 5.0 - - 4320_19:44512958-44512958 A>G_MTTFKEAVTFRDVAVFFTEEELG 0.0 15:80253423-80253423 T>G 0.0 4278 COLORECTAL - - - - BCL2A1 ENST00000267953,p.K172Q|uc002bfc.4,p.K172Q|NM_004049,p.K172Q protein_coding uc002bfc.4 nonsynonymous SNV exon2 c.A514C p.K172Q VTGKICEMLSLLKQYC VTGKICEMLSLLQQYC 8.0 4.0 - - 4278_15:80253423-80253423 T>G_VTGKICEMLSLLQQYC 0.0 4:48027240-48027240 C>T 1.0 4213 COLORECTAL - - - - NIPAL1 uc003gxw.3,p.L68F|NM_207330,p.L68F|ENST00000511123,p.L33F|ENST00000511852,p.L68F|ENST00000295461,p.L68F protein_coding, processed_transcript, nonsense_mediated_decay uc003gxw.3 nonsynonymous SNV exon2 c.C202T p.L68F LSISANVENKYSLYVGLVLAVSSSI LSISANVENKYSFYVGLVLAVSSSI 6.0 3.0 - - 4213_4:48027240-48027240 C>T_LSISANVENKYSFYVGLVLAVSSSI 0.0 2:130897790-130897790 G>A 0.0 4284 COLORECTAL - - ID=COSM1247549;OCCURENCE=1(oesophagus),1(large_intestine) - CCDC74B ENST00000392984,p.R382C|uc010yzw.2,p.R382C|uc002tqn.2,p.R214C|NM_207310,p.R280C|ENST00000409943,p.R214C|uc002tqm.2,p.R280C|NM_001258307,p.R214C|ENST00000310463,p.R280C retained_intron, protein_coding, nonsense_mediated_decay uc010yzw.2 nonsynonymous SNV exon4 c.C1144T p.R382C KPTTLRQCEVLIRELWNTNLLQTQE KPTTLRQCEVLICELWNTNLLQTQE 5.0 1.0 - - 4284_2:130897790-130897790 G>A_KPTTLRQCEVLICELWNTNLLQTQE 0.0 12:58186781-58186781 T>C 1.0 4180 BREAST - - - - TSFM NM_001172696,p.S187P|ENST00000323833,p.S187P|uc001sqh.3,p.S187P protein_coding, processed_transcript, nonsense_mediated_decay uc001sqh.3 nonsynonymous SNV exon6 c.T559C p.S187P AEAGGSLEGFLNSSELSGLPAGPDR AEAGGSLEGFLNPSELSGLPAGPDR 10.0 9.0 - - 4180_12:58186781-58186781 T>C_AEAGGSLEGFLNPSELSGLPAGPDR 0.0 16:77398264-77398264 G>A 0.0 3998 MELANOMA - - - - ADAMTS18 uc002ffc.4,p.P265S|ENST00000282849,p.P265S|NM_199355,p.P265S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002ffc.4 nonsynonymous SNV exon5 c.C793T p.P265S FCGRRKKYAPKPPTEDTYLRFDEYG FCGRRKKYAPKPSTEDTYLRFDEYG 1.0 9.0 - - 3998_16:77398264-77398264 G>A_FCGRRKKYAPKPSTEDTYLRFDEYG 0.0 1:40098352-40098352 G>C 1.0 4189 MELANOMA - - - - HEYL uc001cdp.3,p.S39W|NM_014571,p.S39W protein_coding uc001cdp.3 nonsynonymous SNV exon2 c.C116G p.S39W SQMARPLSTPSSSQMQARKKRRGII SQMARPLSTPSSWQMQARKKRRGII 5.0 8.0 - - 4189_1:40098352-40098352 G>C_SQMARPLSTPSSWQMQARKKRRGII 0.0 14:55462368-55462368 C>T 0.0 4158 COLORECTAL - - - - WDHD1 ENST00000360586,p.R369H|ENST00000420358,p.R246H|uc001xbn.2,p.R246H|NM_001008396,p.R246H|ENST00000421192,p.R246H|NM_007086,p.R369H|uc001xbm.2,p.R369H retained_intron, protein_coding, nonsense_mediated_decay uc001xbn.2 nonsynonymous SNV exon10 c.G737A p.R246H DEDDEDLMMASGRPRQRSHILEDDE DEDDEDLMMASGHPRQRSHILEDDE 6.0 8.0 - - 4158_14:55462368-55462368 C>T_DEDDEDLMMASGHPRQRSHILEDDE 0.0 19:10226649-10226649 G>A 1.0 4252 COLORECTAL - - - - EIF3G ENST00000593054,p.R44C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000593054 nonsynonymous SNV exon2 c.C130T p.R44C GASRRGESMQPNRREDTRETDLQEL GASRRGESMQPNCREDTRETDLQEL 10.0 3.0 - - 4252_19:10226649-10226649 G>A_GASRRGESMQPNCREDTRETDLQEL 0.0 12:25398284-25398284 C>T 0.0 4238 COLORECTAL - - ID=COSM521,COSM1135366;OCCURENCE=1(salivary_gland),171(endometrium),265(ovary),20(soft_tissue),19(urinary_tract),1(kidney),2323(pancreas),15(liver),3(eye),22(prostate),321(biliary_tract),6237(large_intestine),18(breast),24(skin),58(small_intestine),25(upper_aerodigestive_tract),10(oesophagus),4(central_nervous_system),93(stomach),2(testis),19(cervix),114(haematopoietic_and_lymphoid_tissue),15(gastrointestinal_tract_(site_indeterminate)),37(thyroid),737(lung),25(peritoneum) 1 KRAS ENST00000311936,p.G12D|NM_004985,p.G12D|ENST00000556131,p.G12D|ENST00000557334,p.G12D|NM_033360,p.G12D|uc001rgq.1,p.G12D|ENST00000256078,p.G12D|uc001rgp.1,p.G12D protein_coding uc001rgq.1 nonsynonymous SNV exon2 c.G35A p.G12D MTEYKLVVVGAGGVGKSALTIQLI MTEYKLVVVGADGVGKSALTIQLI 5.0 9.0 - - 4238_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI 0.0 3:3214554-3214554 G>C 1.0 4278 COLORECTAL - - - - CRBN uc003bpq.3,p.R145G|ENST00000432408,p.R144G|uc011aso.2,p.R82G|NM_016302,p.R145G|ENST00000231948,p.R145G|uc003bpr.3,p.R144G|NM_001173482,p.R144G retained_intron, protein_coding uc011aso.2 nonsynonymous SNV exon3 c.C244G p.R82G AQFGTTAEIYAYREEQDFGIEIVKV AQFGTTAEIYAYGEEQDFGIEIVKV 10.0 5.0 - - 4278_3:3214554-3214554 G>C_AQFGTTAEIYAYGEEQDFGIEIVKV 0.0 7:27237903-27237903 G>T 0.0 4326 BREAST - - - 1 HOXA13 ENST00000222753,p.L361I|uc003szb.1,p.L361I|NM_000522,p.L361I protein_coding, processed_transcript uc003szb.1 nonsynonymous SNV exon2 c.C1081A p.L361I KDKRRRISATTNLSERQVTIWFQNR KDKRRRISATTNISERQVTIWFQNR 1.0 6.0 - - 4326_7:27237903-27237903 G>T_KDKRRRISATTNISERQVTIWFQNR 0.0 15:42173432-42173432 C>T 0.0 4189 MELANOMA - - - - SPTBN5 ENST00000320955,p.V820M|uc001zos.4,p.V820M|NM_016642,p.V820M retained_intron, protein_coding uc001zos.4 nonsynonymous SNV exon13 c.G2458A p.V820M GRAASARASLFTVNSALSPPGESLR GRAASARASLFTMNSALSPPGESLR 3.0 2.0 - - 4189_15:42173432-42173432 C>T_GRAASARASLFTMNSALSPPGESLR 0.0 4:145039891-145039891 G>T 0.0 4258 ENDOMETRIAL - - - - GYPA uc003ijn.2,p.L83I retained_intron, protein_coding, nonsense_mediated_decay uc003ijn.2 nonsynonymous SNV exon4 c.C247A p.L83I YPPEEETGERVQLAHHFSEPAPVVI YPPEEETGERVQIAHHFSEPAPVVI 1.0 9.0 - - 4258_4:145039891-145039891 G>T_YPPEEETGERVQIAHHFSEPAPVVI 0.0 17:34144723-34144723 C>T 1.0 4180 BREAST - - - 1 TAF15 uc002hkc.4,p.S4F|ENST00000587272,p.S4F|NM_139215,p.S4F|uc002hkd.4,p.S4F|ENST00000588240,p.S4F|ENST00000311979,p.S4F|NM_003487,p.S4F|ENST00000590273,p.S4F retained_intron, protein_coding, nonsense_mediated_decay uc002hkd.4 nonsynonymous SNV exon2 c.C11T p.S4F MSDSGSYGQSGGEQQS MSDFGSYGQSGGEQQS 9.0 10.0 - - 4180_17:34144723-34144723 C>T_MSDFGSYGQSGGEQQS 0.0 17:7577538-7577538 C>T 1.0 4238 COLORECTAL - - ID=COSM99021,COSM99020,COSM10662,COSM99602,COSM3356964,COSM1640830;OCCURENCE=37(urinary_tract),1(adrenal_gland),2(kidney),17(pancreas),8(liver),5(prostate),154(large_intestine),4(biliary_tract),72(breast),13(skin),7(small_intestine),12(endometrium),1(pituitary),32(ovary),3(cervix),58(haematopoietic_and_lymphoid_tissue),1(pleura),5(thyroid),1(peritoneum),18(lung),37(upper_aerodigestive_tract),2(NS),4(bone),3(vulva),37(oesophagus),45(central_nervous_system),37(stomach) 1 TP53 ENST00000413465,p.R248Q|NM_001126115,p.R116Q|uc010cnf.2,p.R89Q|NM_001126113,p.R248Q|NM_001276760,p.R209Q|NM_001126116,p.R116Q|uc002gij.3,p.R209Q|uc002gii.2,p.R89Q|uc002gig.1,p.R248Q|ENST00000359597,p.R248Q|NM_001276699,p.R89Q|uc002gin.3,p.R155Q|NM_001276696,p.R209Q|NM_001126118,p.R209Q|NM_001126114,p.R248Q|ENST00000455263,p.R248Q|NM_001126112,p.R248Q|ENST00000509690,p.R116Q|NM_000546,p.R248Q|uc010cng.2,p.R89Q|ENST00000445888,p.R248Q|NM_001276698,p.R89Q|uc002gio.3,p.R116Q|NM_001276761,p.R209Q|ENST00000269305,p.R248Q|NM_001276697,p.R89Q|uc002gih.3,p.R248Q|NM_001126117,p.R116Q|NM_001276695,p.R209Q|ENST00000420246,p.R248Q|uc031qyq.1,p.R209Q retained_intron, protein_coding, processed_transcript uc031qyq.1 nonsynonymous SNV exon6 c.G626A p.R209Q YMCNSSCMGGMNRRPILTIITLEDS YMCNSSCMGGMNQRPILTIITLEDS 10.0 10.0 - - 4238_17:7577538-7577538 C>T_YMCNSSCMGGMNQRPILTIITLEDS 0.0 19:4508878-4508878 A>C 0.0 4245 COLORECTAL - - - - PLIN4 ENST00000301286,p.F1188V|uc010dub.1,p.F212V|uc002mar.1,p.F1188V|NM_001080400,p.F1188V protein_coding uc010dub.1 nonsynonymous SNV exon3 c.T634G p.F212V SYFVRLGDLGPSFRQRAFEHAVSHL SYFVRLGDLGPSVRQRAFEHAVSHL 2.0 5.0 - - 4245_19:4508878-4508878 A>C_SYFVRLGDLGPSVRQRAFEHAVSHL 0.0 X:15845471-15845471 G>A 1.0 4000 MELANOMA - - - - AP1S2 ENST00000329235,p.L151F|NM_003916,p.L151F|uc004cxi.4,p.L151F protein_coding, processed_transcript uc004cxi.4 nonsynonymous SNV exon5 c.C451T p.L151F LLQEEAETPRSVLEEIGLT LLQEEAETPRSVFEEIGLT 10.0 10.0 - - 4000_X:15845471-15845471 G>A_LLQEEAETPRSVFEEIGLT 0.0 10:99211955-99211955 C>T 1.0 4046 OVARIAN - - - - ZDHHC16 ENST00000370842,p.H118Y|uc001knk.3,p.H118Y|NM_001287803,p.H118Y|NM_001287804,p.H118Y|uc001knj.3,p.H118Y|ENST00000352634,p.H118Y|uc001knn.3,p.H118Y|ENST00000414567,p.H118Y|ENST00000370854,p.H118Y|ENST00000370846,p.H118Y|uc010qow.2,p.H118Y|NM_198046,p.H118Y|NM_198044,p.H118Y|ENST00000353979,p.H118Y|NM_198043,p.H118Y|NM_032327,p.H118Y|uc001knl.3,p.H118Y|ENST00000393760,p.H118Y protein_coding, processed_transcript uc010qow.2 nonsynonymous SNV exon4 c.C352T p.H118Y ILRTYSVPRLCWHFFYSHWNLILIV ILRTYSVPRLCWYFFYSHWNLILIV 10.0 9.0 - - 4046_10:99211955-99211955 C>T_ILRTYSVPRLCWYFFYSHWNLILIV 0.0 19:15375416-15375416 G>T 1.0 4252 COLORECTAL - - - 1 BRD4 ENST00000371835,p.D337E|uc002nar.3,p.D337E|ENST00000263377,p.D337E|ENST00000360016,p.D337E|uc002nat.3,p.D337E|uc002nas.3,p.D337E|NM_058243,p.D337E|ENST00000594841,p.D337E|NM_014299,p.D337E|uc002nau.4,p.D337E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002nau.4 nonsynonymous SNV exon6 c.C1011A p.D337E SRPVKPPKKDVPDSQQHPAPEKSSK SRPVKPPKKDVPESQQHPAPEKSSK 9.0 6.0 - - 4252_19:15375416-15375416 G>T_SRPVKPPKKDVPESQQHPAPEKSSK 0.0 X:140983304-140983304 G>A 0.0 4240 BREAST - - ID=COSM1490561;OCCURENCE=1(breast) - MAGEC3 uc011mwp.2,p.R361Q|ENST00000298296,p.R361Q|NM_138702,p.R361Q protein_coding, processed_transcript uc011mwp.2 nonsynonymous SNV exon6 c.G1082A p.R361Q QGLAGHRQEDGRRGLTEASPQQKKG QGLAGHRQEDGRQGLTEASPQQKKG 3.0 9.0 - - 4240_X:140983304-140983304 G>A_QGLAGHRQEDGRQGLTEASPQQKKG 0.0 19:47258744-47258744 G>A 1.0 4317 COLORECTAL - - - - FKRP ENST00000600629,p.A13T|NM_024301,p.A13T|ENST00000597313,p.A13T|ENST00000593902,p.A13T|ENST00000600005,p.A13T|uc002pfn.2,p.A13T|ENST00000601299,p.A13T|NM_001039885,p.A13T|ENST00000600227,p.A13T|uc002pfp.2,p.A13T|ENST00000602250,p.A13T|ENST00000596460,p.A13T|ENST00000595868,p.A13T|ENST00000598271,p.A13T|ENST00000391909,p.A13T|ENST00000318584,p.A13T|ENST00000600834,p.A13T|ENST00000593800,p.A13T|ENST00000593875,p.A13T|uc021uwj.1,p.A13T|ENST00000602181,p.A13T|ENST00000595570,p.A13T retained_intron, protein_coding, processed_transcript uc021uwj.1 nonsynonymous SNV exon1 c.G37A p.A13T MRLTRCQAALAAAITLNLLVLFYVS MRLTRCQAALAATITLNLLVLFYVS 6.0 7.0 - - 4317_19:47258744-47258744 G>A_MRLTRCQAALAATITLNLLVLFYVS 0.0 11:46726649-46726649 C>T 1.0 3466 MELANOMA - - - - ZNF408 uc010rgw.2,p.P459S|NM_024741,p.P467S|uc001nde.2,p.P467S|NM_001184751,p.P459S|ENST00000311764,p.P467S retained_intron, protein_coding uc010rgw.2 nonsynonymous SNV exon5 c.C1375T p.P459S HRKTHQVPAAPAPCPCPVCGRPLAN HRKTHQVPAAPASCPCPVCGRPLAN 4.0 7.0 - - 3466_11:46726649-46726649 C>T_HRKTHQVPAAPASCPCPVCGRPLAN 0.0 12:25054798-25054798 C>T 0.0 4235 COLORECTAL - - - - BCAT1 uc001rgd.4,p.A10T|NM_001178091,p.A10T|ENST00000539780,p.A10T|uc010siy.2,p.A10T|ENST00000261192,p.A10T|NM_005504,p.A10T protein_coding, processed_transcript uc010siy.2 nonsynonymous SNV exon2 c.G28A p.A10T MKDCSNGCSAECTGEGGSKEVV MKDCSNGCSTECTGEGGSKEVV 5.0 8.0 - - 4235_12:25054798-25054798 C>T_MKDCSNGCSTECTGEGGSKEVV 0.0 2:80874951-80874951 C>T 0.0 3903 MELANOMA - - ID=COSM1023230,COSM1023231;OCCURENCE=1(endometrium) 2 CTNNA2 NM_001282598,p.S925L|uc010ysh.2,p.S939L|NM_004389,p.S891L|NM_001282599,p.S570L|ENST00000540488,p.S846L|ENST00000496558,p.S891L|uc010ysj.2,p.S220L|ENST00000402739,p.S939L|ENST00000343114,p.S570L|NM_001282600,p.S523L|NM_001282597,p.S939L|uc010ysi.2,p.S523L|uc010yse.2,p.S891L|NM_001164883,p.S846L|ENST00000466387,p.S891L|uc010ysf.2,p.S891L|uc010ysg.2,p.S846L|ENST00000541047,p.S891L|ENST00000361291,p.S925L retained_intron, protein_coding, processed_transcript uc010ysj.2 nonsynonymous SNV exon4 c.C659T p.S220L TRVRRGSQKKHISPVQALSEFKAMD TRVRRGSQKKHILPVQALSEFKAMD 2.0 2.0 - - 3903_2:80874951-80874951 C>T_TRVRRGSQKKHILPVQALSEFKAMD 0.0 2:183050718-183050718 C>A 0.0 4316 COLORECTAL - - - - PDE1A ENST00000410103,p.D489Y|uc010zfp.2,p.D385Y|uc010zfq.2,p.D493Y|ENST00000358139,p.D489Y|NM_001258314,p.D455Y|NM_001258313,p.D473Y|ENST00000456212,p.D489Y|uc002uoq.2,p.D489Y|ENST00000435564,p.D489Y|uc002uou.4,p.D455Y|ENST00000351439,p.D473Y|NM_005019,p.D489Y|NM_001003683,p.D489Y|uc002uos.4,p.D489Y|ENST00000409365,p.D473Y|uc002uor.4,p.D473Y|ENST00000346717,p.D455Y|ENST00000331935,p.D489Y|NM_001258312,p.D493Y|ENST00000536095,p.D385Y protein_coding, processed_transcript uc010zfq.2 nonsynonymous SNV exon14 c.G1477T p.D493Y TKGSMSDGSYSPDYSLAAVDLKSFK TKGSMSDGSYSPYYSLAAVDLKSFK 2.0 6.0 - - 4316_2:183050718-183050718 C>A_TKGSMSDGSYSPYYSLAAVDLKSFK 0.0 15:66737003-66737003 G>A 1.0 2591 MELANOMA - - - 1 MAP2K1 ENST00000307102,p.G176S|NM_002755,p.G176S|uc010ujp.2,p.G154S|uc010bhq.3,p.G176S retained_intron, protein_coding uc010ujp.2 nonsynonymous SNV exon5 c.G460A p.G154S QILGKVSIAVIKGLTYLREKHKIMH QILGKVSIAVIKSLTYLREKHKIMH 10.0 8.0 - - 2591_15:66737003-66737003 G>A_QILGKVSIAVIKSLTYLREKHKIMH 0.0 2:182926190-182926190 C>T 0.0 4298 COLORECTAL - - - - PPP1R1C NM_001261424,p.P62L|ENST00000452904,p.P55L|NM_001261425,p.P55L|NM_001080545,p.P55L|ENST00000409702,p.P55L|ENST00000409137,p.P55L|uc002uop.2,p.P55L|uc002uoo.4,p.P55L|uc010frm.2,p.P62L|ENST00000280295,p.P62L retained_intron, protein_coding, processed_transcript uc010frm.2 nonsynonymous SNV exon3 c.C185T p.P62L EHNPPEIDDKRGPNTQGELQNASPK EHNPPEIDDKRGLNTQGELQNASPK 4.0 6.0 - - 4298_2:182926190-182926190 C>T_EHNPPEIDDKRGLNTQGELQNASPK 0.0 17:34641474-34641474 A>T 0.0 4238 COLORECTAL - - - - CCL4L1,CCL4L2 NM_207007,p.Q72H|uc002hlw.3,p.Q72H|ENST00000394465,p.Q72H retained_intron, protein_coding uc002hlw.3 nonsynonymous SNV exon3 c.A216T p.Q72H QPAVVFQTKRGKQVCADPSESWVQE QPAVVFQTKRGKHVCADPSESWVQE 3.0 3.0 - - 4238_17:34641474-34641474 A>T_QPAVVFQTKRGKHVCADPSESWVQE 0.0 5:171509466-171509466 C>T 0.0 4238 COLORECTAL - - - - STK10 ENST00000176763,p.R618H|uc003mbo.1,p.R618H|NM_005990,p.R618H retained_intron, protein_coding, processed_transcript uc003mbo.1 nonsynonymous SNV exon12 c.G1853A p.R618H KKFFDTELENLERQQKQQVEKMEQD KKFFDTELENLEHQQKQQVEKMEQD 7.0 9.0 - - 4238_5:171509466-171509466 C>T_KKFFDTELENLEHQQKQQVEKMEQD 0.0 9:134006156-134006156 G>A 1.0 4129 NSCLC - - - 1 NUP214 ENST00000411637,p.C199Y|ENST00000451030,p.C199Y|uc004cag.3,p.C199Y|ENST00000359428,p.C199Y|NM_005085,p.C199Y|uc004caf.1,p.C199Y|uc004cah.3,p.C199Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004cah.3 nonsynonymous SNV exon5 c.G596A p.C199Y ATLPSTVAVTSVCWSPKGKQLAVGK ATLPSTVAVTSVYWSPKGKQLAVGK 9.0 10.0 CD8 - 4129_9:134006156-134006156 G>A_ATLPSTVAVTSVYWSPKGKQLAVGK 2.0 6:136268611-136268611 G>A 0.0 4081 COLORECTAL - - ID=COSM276696;OCCURENCE=2(endometrium),1(large_intestine) - PDE7B NM_018945,p.E11K|uc003qgp.3,p.E11K|ENST00000308191,p.E11K protein_coding uc003qgp.3 nonsynonymous SNV exon2 c.G31A p.E11K MSCLMVERCGEILFENPDQNAKC MSCLMVERCGKILFENPDQNAKC 3.0 3.0 - - 4081_6:136268611-136268611 G>A_MSCLMVERCGKILFENPDQNAKC 0.0 5:128365384-128365384 G>A 0.0 4301 MELANOMA - - - - SLC27A6 NM_014031,p.R556Q|NM_001017372,p.R556Q|ENST00000262462,p.R556Q|ENST00000506176,p.R556Q|uc003kuy.3,p.R556Q|uc003kuz.3,p.R556Q|ENST00000395266,p.R556Q protein_coding uc003kuz.3 nonsynonymous SNV exon9 c.G1667A p.R556Q QVVTFLPAYACPRFLRIQEKMEATG QVVTFLPAYACPQFLRIQEKMEATG 4.0 2.0 - - 4301_5:128365384-128365384 G>A_QVVTFLPAYACPQFLRIQEKMEATG 0.0 3:52393974-52393974 A>G 0.0 3903 MELANOMA - - - - DNAH1 uc011bef.2,p.M1484V|ENST00000420323,p.M1484V|NM_015512,p.M1484V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bef.2 nonsynonymous SNV exon27 c.A4450G p.M1484V DLVALVRGKLSRMQRAVLSALIVIE DLVALVRGKLSRVQRAVLSALIVIE 5.0 4.0 - - 3903_3:52393974-52393974 A>G_DLVALVRGKLSRVQRAVLSALIVIE 0.0 9:21971178-21971179 CG>-, 9:21971181-21971181 C>A 1.0 1913 MELANOMA - - - 1 CDKN2A ENST00000530628,p.G74fs|NM_058195,p.G74fs|ENST00000579755,p.G74fs|uc003zpl.3,p.G74fs|ENST00000361570,p.G115fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003zpl.3 frameshift deletion exon2 c.222_223del p.G74fs RRPGHDDGQRPSGGAAAAPRRGAQL RRPGHDDGQRPSGSCCCSTARSPTAPTPPLSPDPCTTLPGRASWTRWWCCTGPGRGWTCAMPGAVCPWTWLRSWATA 10.0 9.0 CD8 fs,snv,coded into 3'UTR PR 1913_9:21971178-21971179 CG>-, 9:21971181-21971181 C>A_RRPGHDDGQRPSGSCCCSTARSPTAPTPPLSPDPCTTLPGRASWTRWWCCTGPGRGWTCAMPGAVCPWTWLRSWATA 1.0 7:98534799-98534799 T>C 1.0 3713 MELANOMA - - - 1 TRRAP ENST00000446306,p.Y1377H|uc003upr.3,p.Y1070H|NM_001244580,p.Y1378H|ENST00000355540,p.Y1378H|uc003upp.3,p.Y1378H|uc011kis.2,p.Y1378H|ENST00000359863,p.Y1378H|NM_003496,p.Y1378H retained_intron, protein_coding uc011kis.2 nonsynonymous SNV exon29 c.T4132C p.Y1378H RIAALNALAACNYLPQSREKIIAAL RIAALNALAACNHLPQSREKIIAAL 5.0 8.0 - - 3713_7:98534799-98534799 T>C_RIAALNALAACNHLPQSREKIIAAL 0.0 2:203831758-203831758 ->A 0.0 4081 COLORECTAL - - - - CARF ENST00000402905,p.L297fs|ENST00000438828,p.L297fs|uc002uzp.2,p.L297fs|NM_001104586,p.L297fs|ENST00000414439,p.L195fs|ENST00000422368,p.L267fs|ENST00000545253,p.L209fs|NM_024744,p.L297fs|uc010zic.1,p.L209fs|uc002uzo.2,p.L297fs|ENST00000428585,p.L221fs|NM_001282910,p.L221fs|NM_001282911,p.L221fs|ENST00000545262,p.L221fs|NM_001282912,p.L209fs|ENST00000320443,p.L297fs|uc010zib.1,p.L221fs|uc010zia.1,p.L221fs protein_coding, processed_transcript, nonsense_mediated_decay uc010zic.1 frameshift insertion exon7 c.627dupA p.L209fs ECQYGPRRKGFQLKKVSEQESRSCQ ECQYGPRRKGFQLKKSQ 4.0 8.0 - - 4081_2:203831758-203831758 ->A_ECQYGPRRKGFQLKKSQ 0.0 9:35802530-35802530 C>T 1.0 4000 MELANOMA - - - - NPR2 uc010mlb.3,p.R581C|ENST00000342694,p.R581C|NM_003995,p.R581C|uc003zyd.3,p.R581C retained_intron, protein_coding, nonsense_mediated_decay uc010mlb.3 nonsynonymous SNV exon11 c.C1741T p.R581C KHMRDVQFNHLTRFIGACIDPPNIC KHMRDVQFNHLTCFIGACIDPPNIC 6.0 1.0 - - 4000_9:35802530-35802530 C>T_KHMRDVQFNHLTCFIGACIDPPNIC 0.0 1:32265636-32265636 G>A 0.0 3713 MELANOMA - - - - SPOCD1 ENST00000360482,p.S570L|ENST00000528791,p.S63L|uc001btv.3,p.S63L|ENST00000373648,p.S511L|uc001btu.3,p.S570L|ENST00000257100,p.S63L|ENST00000533231,p.S570L|NM_144569,p.S570L|uc001bts.1,p.S570L|NM_001281988,p.S63L|NM_001281987,p.S570L retained_intron, protein_coding uc001btv.3 nonsynonymous SNV exon4 c.C188T p.S63L PRSGSLALGDPSSDPACSQSGPMEA PRSGSLALGDPSLDPACSQSGPMEA 4.0 6.0 - - 3713_1:32265636-32265636 G>A_PRSGSLALGDPSLDPACSQSGPMEA 0.0 7:97482421-97482421 G>A 1.0 4240 BREAST - - - - ASNS ENST00000444334,p.S455L|NM_133436,p.S476L|uc003uou.4,p.S476L|uc003uox.4,p.S393L|uc003uot.4,p.S476L|ENST00000455086,p.S393L|uc011kin.2,p.S393L|NM_001673,p.S476L|uc011kio.2,p.S455L|ENST00000437628,p.S393L|ENST00000422745,p.S455L|ENST00000394309,p.S476L|NM_001178077,p.S393L|ENST00000394308,p.S476L|ENST00000175506,p.S476L|NM_183356,p.S476L|NM_001178075,p.S455L|NM_001178076,p.S393L|uc003uov.4,p.S476L retained_intron, protein_coding, nonsense_mediated_decay uc011kio.2 nonsynonymous SNV exon12 c.C1364T p.S455L WRPKEAFSDGITSVKNSWFKILQEY WRPKEAFSDGITLVKNSWFKILQEY 8.0 9.0 - - 4240_7:97482421-97482421 G>A_WRPKEAFSDGITLVKNSWFKILQEY 0.0 1:178414712-178414712 G>C 1.0 4240 BREAST - - - - RASAL2 uc001glq.3,p.L514F|NM_170692,p.L514F|uc001glr.3,p.L366F|ENST00000448150,p.L496F|NM_004841,p.L366F|ENST00000367649,p.L514F|ENST00000462775,p.L366F retained_intron, protein_coding, processed_transcript uc001glr.3 nonsynonymous SNV exon7 c.G1098C p.L366F MSEVDRCGEHDVLIFRENTIATKSI MSEVDRCGEHDVFIFRENTIATKSI 7.0 10.0 - - 4240_1:178414712-178414712 G>C_MSEVDRCGEHDVFIFRENTIATKSI 0.0 1:151751416-151751416 T>G 1.0 4071 COLORECTAL - - - - TDRKH ENST00000368823,p.T206P|ENST00000368822,p.T210P|ENST00000368824,p.T210P|uc001ezc.4,p.T165P|NM_001083965,p.T210P|ENST00000368827,p.T210P|uc001ezd.4,p.T210P|uc009wnb.1,p.T210P|uc001eza.4,p.T210P|ENST00000458431,p.T210P|ENST00000368825,p.T165P|NM_001083964,p.T165P|NM_001083963,p.T210P|uc001ezb.4,p.T206P|NM_006862,p.T210P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009wnb.1 nonsynonymous SNV exon6 c.A628C p.T210P EELRKRIAHSAETRVPRKQPISVRR EELRKRIAHSAEPRVPRKQPISVRR 5.0 9.0 - - 4071_1:151751416-151751416 T>G_EELRKRIAHSAEPRVPRKQPISVRR 0.0 3:101483736-101483736 A>C 0.0 4345 COLORECTAL - - - - CEP97 uc003dvm.1,p.S485R|NM_024548,p.S647R|ENST00000327230,p.S673R|uc003dvl.1,p.S369R|ENST00000341893,p.S647R|uc003dvk.1,p.S647R|uc011bhf.1,p.S588R|ENST00000494050,p.S588R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bhf.1 nonsynonymous SNV exon11 c.A1762C p.S588R LQVWQQTVDQRLSSWHTDVPPISST LQVWQQTVDQRLRSWHTDVPPISST 5.0 3.0 - - 4345_3:101483736-101483736 A>C_LQVWQQTVDQRLRSWHTDVPPISST 0.0 17:6387556-6387556 C>T 0.0 2591 MELANOMA - - - - PITPNM3 NM_031220,p.E111K|ENST00000421306,p.E75K|uc010cln.3,p.E75K|ENST00000262483,p.E111K|NM_001165966,p.E75K|uc002gdd.4,p.E111K retained_intron, protein_coding, processed_transcript uc010cln.3 nonsynonymous SNV exon4 c.G223A p.E75K LRRQRFPAQGSIEIHEDSEEGCPQR LRRQRFPAQGSIKIHEDSEEGCPQR 2.0 3.0 - - 2591_17:6387556-6387556 C>T_LRRQRFPAQGSIKIHEDSEEGCPQR 0.0 X:49127168-49127168 G>A 0.0 4287 COLORECTAL - - ID=COSM1122499;OCCURENCE=1(endometrium) - PPP1R3F ENST00000055335,p.R279H|uc004dnh.2,p.R279H|NM_033215,p.R279H protein_coding uc004dnh.2 nonsynonymous SNV exon1 c.G836A p.R279H TPEGTFWANNHGRNYTVLLRIAPAP TPEGTFWANNHGHNYTVLLRIAPAP 4.0 7.0 - - 4287_X:49127168-49127168 G>A_TPEGTFWANNHGHNYTVLLRIAPAP 0.0 16:57507635-57507635 C>T 1.0 4326 BREAST - - - - DOK4 ENST00000566936,p.G251D|uc010cdb.3,p.G251D|uc002elv.4,p.G251D|ENST00000340099,p.G251D|ENST00000569548,p.G251D|NM_018110,p.G251D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010cdb.3 nonsynonymous SNV exon7 c.G752A p.G251D LEMEKNVRLLNKGTEHYSYPCTPTT LEMEKNVRLLNKDTEHYSYPCTPTT 6.0 9.0 - - 4326_16:57507635-57507635 C>T_LEMEKNVRLLNKDTEHYSYPCTPTT 0.0 14:51464776-51464776 G>A 0.0 4346 COLORECTAL - - - - TRIM9 uc001wyy.2,p.T528M|ENST00000338969,p.T528M retained_intron, protein_coding, processed_transcript uc001wyy.2 nonsynonymous SNV exon7 c.C1583T p.T528M GVSPYSKTLVLQTSEDTDSEEQTLP GVSPYSKTLVLQMSEDTDSEEQTLP 3.0 1.0 - - 4346_14:51464776-51464776 G>A_GVSPYSKTLVLQMSEDTDSEEQTLP 0.0 X:27840321-27840321 C>T 1.0 4196 COLORECTAL - - - - MAGEB10 ENST00000356790,p.P300S|uc004dbw.3,p.P300S|NM_182506,p.P300S|uc022bud.1,p.P300S protein_coding uc022bud.1 nonsynonymous SNV exon1 c.C898T p.P300S VLEFLAKVNDTAPSEFSNWYTEALQ VLEFLAKVNDTASSEFSNWYTEALQ 4.0 9.0 - - 4196_X:27840321-27840321 C>T_VLEFLAKVNDTASSEFSNWYTEALQ 0.0 9:140082339-140082339 G>A 1.0 3713 MELANOMA - - - - ANAPC2 uc011mer.1,p.L112F|ENST00000323927,p.L112F|NM_013366,p.L112F|uc004clr.1,p.L112F protein_coding, processed_transcript uc011mer.1 nonsynonymous SNV exon2 c.C334T p.L112F NSADEPQCLLLLLDAFGLLESRLDP NSADEPQCLLLLFDAFGLLESRLDP 7.0 8.0 - - 3713_9:140082339-140082339 G>A_NSADEPQCLLLLFDAFGLLESRLDP 0.0 19:3637436-3637436 G>A 0.0 4240 BREAST - - - - PIP5K1C ENST00000589578,p.S699L|NM_001300849,p.S699L|uc010xhr.2,p.S699L protein_coding, processed_transcript uc010xhr.2 nonsynonymous SNV exon17 c.C2096T p.S699L AAGPRPEAQCLTSVVFQKGFG AAGPRPEAQCLTLVVFQKGFG 8.0 10.0 - - 4240_19:3637436-3637436 G>A_AAGPRPEAQCLTLVVFQKGFG 0.0 1:92647180-92647180 G>A 0.0 3795 MELANOMA - - - - KIAA1107 uc001dop.3,p.D801N|NM_015237,p.D876N|ENST00000409154,p.D931N|uc010otd.2,p.D876N|ENST00000370378,p.D876N protein_coding uc010otd.2 nonsynonymous SNV exon8 c.G2626A p.D876N SDTSTPEELKIYDSNLRIEVKMKKQ SDTSTPEELKIYNSNLRIEVKMKKQ 4.0 8.0 - - 3795_1:92647180-92647180 G>A_SDTSTPEELKIYNSNLRIEVKMKKQ 0.0 2:168105953-168105953 C>A 0.0 4258 ENDOMETRIAL - - - - XIRP2 uc010fpq.3,p.T2462N|NM_152381,p.T2684N|ENST00000295237,p.T2684N|uc002udx.3,p.T2684N|ENST00000409273,p.T2462N|NM_001199144,p.T2462N|uc002udy.3,p.T2509N|ENST00000409195,p.T2684N protein_coding uc010fpq.3 nonsynonymous SNV exon7 c.C7385A p.T2462N ACEIKQSHQECSTQQTQQKKYLEQL ACEIKQSHQECSNQQTQQKKYLEQL 5.0 7.0 - - 4258_2:168105953-168105953 C>A_ACEIKQSHQECSNQQTQQKKYLEQL 0.0 13:28494547-28494547 C>A 0.0 4316 COLORECTAL - - - - PDX1 uc001urt.2,p.A91E|ENST00000381033,p.A91E|NM_000209,p.A91E protein_coding uc001urt.2 nonsynonymous SNV exon1 c.C272A p.A91E VAHLHHHLPAQLALPHPPAGPFPEG VAHLHHHLPAQLELPHPPAGPFPEG 3.0 3.0 - - 4316_13:28494547-28494547 C>A_VAHLHHHLPAQLELPHPPAGPFPEG 0.0 6:33374045-33374045 C>T 1.0 4316 COLORECTAL - - - - KIFC1 ENST00000428849,p.R537C|uc003oef.4,p.R537C|NM_002263,p.R537C|uc011drf.2,p.R529C retained_intron, protein_coding, processed_transcript uc011drf.2 nonsynonymous SNV exon8 c.C1585T p.R529C AVARTAQNERSSRSHSVFQLQISGE AVARTAQNERSSCSHSVFQLQISGE 8.0 7.0 - - 4316_6:33374045-33374045 C>T_AVARTAQNERSSCSHSVFQLQISGE 0.0 16:3487308-3487308 C>T 1.0 4284 COLORECTAL - - - - ZNF597 uc002cvd.3,p.E131K|NM_152457,p.E131K|ENST00000301744,p.E131K protein_coding uc002cvd.3 nonsynonymous SNV exon4 c.G391A p.E131K LLVTIENHTPLVELSEYLGTNTLSE LLVTIENHTPLVKLSEYLGTNTLSE 5.0 8.0 - - 4284_16:3487308-3487308 C>T_LLVTIENHTPLVKLSEYLGTNTLSE 0.0 6:152697659-152697659 T>C 0.0 4335 COLORECTAL - - - - SYNE1 NM_033071,p.K3068E|uc003qot.4,p.K3068E|ENST00000265368,p.K3061E|ENST00000367255,p.K3061E|ENST00000448038,p.K3068E|ENST00000423061,p.K3068E|NM_182961,p.K3061E|uc003qov.3,p.K139E|ENST00000341594,p.K3100E|uc003qou.4,p.K3061E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003qov.3 nonsynonymous SNV exon3 c.A415G p.K139E CLCLQASKGCQNKEQILQQRFRKAF CLCLQASKGCQNEEQILQQRFRKAF 9.0 1.0 - - 4335_6:152697659-152697659 T>C_CLCLQASKGCQNEEQILQQRFRKAF 0.0 6:143092287-143092287 G>A 1.0 3713 MELANOMA - - - - HIVEP2 ENST00000367604,p.P1197S|ENST00000012134,p.P1197S|NM_006734,p.P1197S|ENST00000367603,p.P1197S|uc003qjd.3,p.P1197S protein_coding, processed_transcript uc003qjd.3 nonsynonymous SNV exon5 c.C3589T p.P1197S EQPHLFPHQETIPFSPIQNALFQFQ EQPHLFPHQETISFSPIQNALFQFQ 6.0 2.0 - - 3713_6:143092287-143092287 G>A_EQPHLFPHQETISFSPIQNALFQFQ 0.0 16:51173801-51173801 C>T 0.0 4298 COLORECTAL - - - - SALL1 ENST00000570206,p.A681T|uc021tid.1,p.A681T|ENST00000251020,p.A778T|ENST00000440970,p.A681T|uc021tie.1,p.A778T|NM_001127892,p.A681T|uc021tif.1,p.A681T|NM_002968,p.A778T protein_coding, processed_transcript uc021tif.1 nonsynonymous SNV exon2 c.G2041A p.A681T HSCPICQKKFTNAVVLQQHIRMHMG HSCPICQKKFTNTVVLQQHIRMHMG 3.0 7.0 - - 4298_16:51173801-51173801 C>T_HSCPICQKKFTNTVVLQQHIRMHMG 0.0 3:157920925-157920925 A>C 1.0 4298 COLORECTAL - - - - RSRC1 ENST00000480119,p.T129P|ENST00000475278,p.T129P|NM_016625,p.T129P|ENST00000494002,p.T129P|ENST00000480820,p.T129P|uc003fbt.4,p.T129P|NM_001271838,p.T129P|ENST00000471994,p.T129P|ENST00000476899,p.T129P|ENST00000295930,p.T129P|uc003fbu.2,p.T129P protein_coding, processed_transcript, nonsense_mediated_decay uc003fbu.2 nonsynonymous SNV exon4 c.A385C p.T129P HSRSSERSSHRRTRSRSRDRERRKG HSRSSERSSHRRPRSRSRDRERRKG 9.0 1.0 - - 4298_3:157920925-157920925 A>C_HSRSSERSSHRRPRSRSRDRERRKG 0.0 7:140380908-140380908 C>T 1.0 3713 MELANOMA - - - - ADCK2 ENST00000473512,p.R66W|uc003vvz.3,p.R426W|ENST00000476491,p.R426W|uc003vvy.1,p.R426W|ENST00000072869,p.R426W|NM_052853,p.R426W retained_intron, protein_coding uc003vvz.3 nonsynonymous SNV exon4 c.C1276T p.R426W AGIPVDLKRKIARLGINMLLKMIFV AGIPVDLKRKIAWLGINMLLKMIFV 7.0 8.0 - - 3713_7:140380908-140380908 C>T_AGIPVDLKRKIAWLGINMLLKMIFV 0.0 4:177249464-177249464 A>T 1.0 2556 MELANOMA - - - - SPCS3 uc003iur.4,p.I176L|NM_021928,p.I176L|ENST00000503362,p.I176L retained_intron, protein_coding, processed_transcript uc003iur.4 nonsynonymous SNV exon5 c.A526T p.I176L GHVSVPFPDTYEITKSY GHVSVPFPDTYELTKSY 10.0 3.0 - - 2556_4:177249464-177249464 A>T_GHVSVPFPDTYELTKSY 0.0 8:41553957-41553957 G>A 0.0 4237 NSCLC - - - 2 ANK1 ENST00000379758,p.P962S|uc003xoh.3,p.P278S|NM_020476,p.P962S|ENST00000347528,p.P962S|ENST00000352337,p.P962S|ENST00000289734,p.P962S|uc003xoi.3,p.P962S|NM_001142446,p.P1003S|uc003xol.3,p.P962S|ENST00000396942,p.P962S|uc003xoj.3,p.P962S|uc003xok.3,p.P962S|ENST00000396945,p.P962S|ENST00000265709,p.P1003S|uc003xom.3,p.P1003S|NM_020475,p.P962S|NM_020477,p.P962S|NM_000037,p.P962S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003xom.3 nonsynonymous SNV exon27 c.C3007T p.P1003S TCRLVKPQKLSTPPPLAEEEGLASR TCRLVKPQKLSTSPPLAEEEGLASR 4.0 9.0 - - 4237_8:41553957-41553957 G>A_TCRLVKPQKLSTSPPLAEEEGLASR 0.0 17:63530030-63530030 ->TA 1.0 4316 COLORECTAL - - - 1 AXIN2 NM_004655,p.R802fs|ENST00000375702,p.R737fs|uc002jfh.3,p.R737fs|uc002jfi.3,p.R802fs|ENST00000307078,p.R802fs retained_intron, protein_coding uc002jfi.3 frameshift insertion exon10 c.2404_2405insTA p.R802fs HFKEQLSKKGNYRYYFKKASDEFAC HFKEQLSKKGNYIGITSKKQAMSLPVERCLRRSGRMRRCSRCMKAGFWAKWSGSI 10.0 9.0 - - 4316_17:63530030-63530030 ->TA_HFKEQLSKKGNYIGITSKKQAMSLPVERCLRRSGRMRRCSRCMKAGFWAKWSGSI 0.0 3:69988295-69988295 C>T 1.0 3784 MELANOMA - - - 1 MITF ENST00000478490,p.P103L protein_coding, processed_transcript, nonsense_mediated_decay ENST00000478490 nonsynonymous SNV exon3 c.C308T p.P103L KFEEQNRAESECPDG KFEEQNRAESECLDG 10.0 2.0 - - 3784_3:69988295-69988295 C>T_KFEEQNRAESECLDG 0.0 17:3567983-3567983 T>G 1.0 4298 COLORECTAL - - - - TAX1BP3 uc002fwe.1,p.K50T protein_coding uc002fwe.1 nonsynonymous SNV exon2 c.A149C p.K50T DQDPSQNPFSEDKTDKVRGSGVLGP DQDPSQNPFSEDTTDKVRGSGVLGP 8.0 7.0 - - 4298_17:3567983-3567983 T>G_DQDPSQNPFSEDTTDKVRGSGVLGP 0.0 15:34133059-34133059 G>A 1.0 3903 MELANOMA - - - - RYR3 ENST00000389232,p.G4338R|uc001zhi.3,p.G4338R|NM_001036,p.G4338R|uc010bar.3,p.G4333R|ENST00000415757,p.G4333R|NM_001243996,p.G4333R retained_intron, protein_coding, processed_transcript uc010bar.3 nonsynonymous SNV exon89 c.G12997A p.G4333R QAAEMKAANEAEGKVESEKADMEDG QAAEMKAANEAERKVESEKADMEDG 3.0 6.0 - - 3903_15:34133059-34133059 G>A_QAAEMKAANEAERKVESEKADMEDG 0.0 3:140401414-140401414 G>A 0.0 4177 PANCREATIC - - - - TRIM42 uc003eto.2,p.R151Q|NM_152616,p.R151Q|ENST00000286349,p.R151Q protein_coding uc003eto.2 nonsynonymous SNV exon2 c.G452A p.R151Q HLVNHLNCPMCSRLRLHSFMLPCNH HLVNHLNCPMCSQLRLHSFMLPCNH 1.0 9.0 - - 4177_3:140401414-140401414 G>A_HLVNHLNCPMCSQLRLHSFMLPCNH 0.0 6:89891741-89891741 G>A 1.0 4213 COLORECTAL - - - - GABRR1 ENST00000454853,p.R278C|NM_001256703,p.R261C|ENST00000435811,p.R261C|uc031spe.1,p.R191C|NM_002042,p.R278C|uc011dzw.2,p.R191C|uc003pna.2,p.R278C|ENST00000369451,p.R191C|NM_001256704,p.R191C|uc011dzv.2,p.R261C|NM_001267582,p.R191C protein_coding, processed_transcript, nonsense_mediated_decay uc031spe.1 nonsynonymous SNV exon10 c.C571T p.R191C GWYNRLYINFTLRRHIFFFLLQTYF GWYNRLYINFTLCRHIFFFLLQTYF 4.0 6.0 - - 4213_6:89891741-89891741 G>A_GWYNRLYINFTLCRHIFFFLLQTYF 0.0 17:7498072-7498072 G>C 1.0 3716 MELANOMA - - - - FXR2 NM_004860,p.P279A|uc002gia.2,p.P279A|ENST00000250113,p.P279A retained_intron, protein_coding, processed_transcript uc002gia.2 nonsynonymous SNV exon9 c.C835G p.P279A EETCTFRIYGETPEACRQARSYLEF EETCTFRIYGETAEACRQARSYLEF 6.0 8.0 - - 3716_17:7498072-7498072 G>C_EETCTFRIYGETAEACRQARSYLEF 0.0 10:115381935-115381935 T>G 0.0 4298 COLORECTAL - - - - NRAP uc001laj.4,p.K821T|ENST00000360478,p.K786T|NM_198060,p.K821T|NM_006175,p.K786T|ENST00000369358,p.K829T|ENST00000359988,p.K821T|uc001lal.4,p.K821T|uc001lak.4,p.K786T|NM_001261463,p.K821T|ENST00000369360,p.K794T protein_coding uc001lal.4 nonsynonymous SNV exon24 c.A2462C p.K821T AAKAKRDLASEVKYKEDYERSRGKL AAKAKRDLASEVTYKEDYERSRGKL 1.0 7.0 - - 4298_10:115381935-115381935 T>G_AAKAKRDLASEVTYKEDYERSRGKL 0.0 X:65822562-65822562 T>A 0.0 4246 COLORECTAL - - - - EDA2R NM_001199687,p.S144C|ENST00000396050,p.S144C|NM_001242310,p.S144C|uc004dwq.3,p.S144C|uc004dwr.3,p.S144C|NM_021783,p.S144C|ENST00000456230,p.S144C|ENST00000374719,p.S144C|uc004dws.3,p.S144C|uc004dwt.2,p.S144C|ENST00000450752,p.S144C|uc022byh.1,p.S144C|ENST00000253392,p.S144C protein_coding uc022byh.1 nonsynonymous SNV exon4 c.A430T p.S144C VPPQEATLVALVSSLLVVFTLAFLG VPPQEATLVALVCSLLVVFTLAFLG 2.0 5.0 - - 4246_X:65822562-65822562 T>A_VPPQEATLVALVCSLLVVFTLAFLG 0.0 10:63851320-63851320 A>G 0.0 4320 COLORECTAL - - - - ARID5B uc001jlu.2,p.S457G|NM_001244638,p.S457G|NM_032199,p.S700G|ENST00000309334,p.S457G|uc001jlt.2,p.S700G|ENST00000279873,p.S700G protein_coding uc001jlu.2 nonsynonymous SNV exon7 c.A1369G p.S457G SPLAKKKLLSQVSGASLSSSYPYGS SPLAKKKLLSQVGGASLSSSYPYGS 7.0 2.0 - - 4320_10:63851320-63851320 A>G_SPLAKKKLLSQVGGASLSSSYPYGS 0.0 9:131513469-131513469 G>A 1.0 4237 NSCLC - - - - ZER1 uc004bwa.2,p.R373W|NM_006336,p.R373W|ENST00000291900,p.R373W protein_coding, processed_transcript uc004bwa.2 nonsynonymous SNV exon7 c.C1117T p.R373W EAYTEHRPEITSRAINLLFDIARIE EAYTEHRPEITSWAINLLFDIARIE 9.0 6.0 - - 4237_9:131513469-131513469 G>A_EAYTEHRPEITSWAINLLFDIARIE 0.0 1:210267705-210267705 G>A 1.0 4000 MELANOMA - - - - SYT14 ENST00000367019,p.D161N|uc010pso.3,p.D123N|uc009xcv.4,p.D161N|ENST00000537238,p.D123N|ENST00000472886,p.D161N|NM_001256006,p.D123N|ENST00000422431,p.D206N|NM_001146262,p.D161N|ENST00000534859,p.D161N|NM_001146264,p.D206N|NM_153262,p.D161N|ENST00000399639,p.D161N|uc010psn.3,p.D206N|uc001hhs.5,p.D206N|uc001hht.5,p.D161N|ENST00000367015,p.D123N|NM_001146261,p.D206N protein_coding, processed_transcript uc010pso.3 nonsynonymous SNV exon6 c.G367A p.D123N NCIQRMRRTPPLDELQPPPYQDDSG NCIQRMRRTPPLNELQPPPYQDDSG 7.0 5.0 - - 4000_1:210267705-210267705 G>A_NCIQRMRRTPPLNELQPPPYQDDSG 0.0 17:58133502-58133502 G>A 1.0 3998 MELANOMA - - - - HEATR6 NM_022070,p.P726S|uc002iyk.1,p.P726S|ENST00000184956,p.P726S|uc010ddk.1,p.P265S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ddk.1 nonsynonymous SNV exon5 c.C793T p.P265S GEVICKCMGEADPSIQLHGAKLLEE GEVICKCMGEADSSIQLHGAKLLEE 7.0 4.0 - - 3998_17:58133502-58133502 G>A_GEVICKCMGEADSSIQLHGAKLLEE 0.0 15:49421687-49421687 G>A 1.0 4278 COLORECTAL - - - - COPS2 ENST00000542928,p.P308L|NM_004236,p.P372L|uc001zxf.3,p.P372L|ENST00000388901,p.P372L|NM_001143887,p.P379L|uc010ufa.2,p.P308L|uc001zxh.3,p.P379L|ENST00000299259,p.P379L retained_intron, protein_coding, nonsense_mediated_decay uc010ufa.2 nonsynonymous SNV exon9 c.C923T p.P308L IKLIKPYTRIHIPFISKELNIDVAD IKLIKPYTRIHILFISKELNIDVAD 9.0 2.0 CD8 - 4278_15:49421687-49421687 G>A_IKLIKPYTRIHILFISKELNIDVAD 1.0 12:69113358-69113358 G>A 1.0 3903 MELANOMA - - - - NUP107 NM_020401,p.G392E|ENST00000378905,p.G241E|ENST00000539906,p.G363E|uc001suf.3,p.G392E|uc001sug.3,p.G239E|ENST00000229179,p.G392E|uc010stj.2,p.G363E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010stj.2 nonsynonymous SNV exon14 c.G1088A p.G363E GWKLYHDPNVNGGTELEPVEGNPYR GWKLYHDPNVNGETELEPVEGNPYR 8.0 3.0 - - 3903_12:69113358-69113358 G>A_GWKLYHDPNVNGETELEPVEGNPYR 0.0 18:70423380-70423380 G>A 0.0 4301 MELANOMA - - - - NETO1 ENST00000299430,p.P290S|NM_138966,p.P291S|NM_001201465,p.P291S|uc002lkw.3,p.P291S|uc002lky.2,p.P291S|ENST00000327305,p.P291S|ENST00000583169,p.P291S protein_coding, processed_transcript uc002lky.2 nonsynonymous SNV exon8 c.C871T p.P291S RFQMLFTSFQEPPCEGNTFFCHSNM RFQMLFTSFQEPSCEGNTFFCHSNM 6.0 8.0 - - 4301_18:70423380-70423380 G>A_RFQMLFTSFQEPSCEGNTFFCHSNM 0.0 17:73236026-73236026 G>A 1.0 2369 MELANOMA 0.0009 - - - GGA3 ENST00000582717,p.A404V|NM_138619,p.A476V|ENST00000351904,p.A443V|ENST00000582486,p.A404V|NM_014001,p.A443V|NM_001172704,p.A354V|uc002jnj.2,p.A443V|uc010wrw.2,p.A354V|NM_001172703,p.A404V|uc002jnk.2,p.A404V|ENST00000245541,p.A476V|NM_001291642,p.A354V|uc010wry.2,p.A404V|NM_001291641,p.A404V|ENST00000538886,p.A354V|ENST00000578348,p.A354V|uc010wrx.2,p.A354V|uc002jni.2,p.A476V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wry.2 nonsynonymous SNV exon13 c.C1211T p.A404V PFPAPVVPASVPAPSAGSSLFSTGV PFPAPVVPASVPVPSAGSSLFSTGV 8.0 6.0 - - 2369_17:73236026-73236026 G>A_PFPAPVVPASVPVPSAGSSLFSTGV 0.0 9:123877420-123877420 A>G 1.0 3713 MELANOMA - - - 1 CNTRL NM_007018,p.Q466R|uc004bky.1,p.Q70R|ENST00000373855,p.Q466R|ENST00000238341,p.Q466R|uc004bkx.1,p.Q466R protein_coding, processed_transcript uc004bky.1 nonsynonymous SNV exon3 c.A209G p.Q70R SELHDEIEKAEQQILRATEEFKQLE SELHDEIEKAEQRILRATEEFKQLE 4.0 10.0 - - 3713_9:123877420-123877420 A>G_SELHDEIEKAEQRILRATEEFKQLE 0.0 6:152711556-152711556 A>C 0.0 4160 COLORECTAL - - - - SYNE1 ENST00000423061,p.V2686G|ENST00000448038,p.V2686G|NM_182961,p.V2679G|uc003qot.4,p.V2686G|ENST00000367255,p.V2679G|ENST00000341594,p.V2718G|uc003qou.4,p.V2679G|uc010kjb.1,p.V2662G|ENST00000265368,p.V2679G|NM_033071,p.V2686G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010kjb.1 nonsynonymous SNV exon51 c.T7985G p.V2662G IQDILLMKGEGEVKLNMAIGKGEQA IQDILLMKGEGEGKLNMAIGKGEQA 6.0 4.0 - - 4160_6:152711556-152711556 A>C_IQDILLMKGEGEGKLNMAIGKGEQA 0.0 12:132549264-132549264 C>T 1.0 2359 MELANOMA - - - - EP400 uc001ujn.3,p.P2796S|ENST00000389561,p.P2796S|uc001ujm.3,p.P2715S|ENST00000332482,p.P2759S|NM_015409,p.P2796S|ENST00000389562,p.P2795S|ENST00000333577,p.P2832S|uc001ujp.3,p.P13S|ENST00000330386,p.P2715S protein_coding, processed_transcript uc001ujp.3 nonsynonymous SNV exon2 c.C37T p.P13S MQKQKLQMPPQPPPPQAQSAPPQPT MQKQKLQMPPQPSPPQAQSAPPQPT 7.0 6.0 - - 2359_12:132549264-132549264 C>T_MQKQKLQMPPQPSPPQAQSAPPQPT 0.0 19:16677428-16677428 T>G 1.0 4071 COLORECTAL - - - - SLC35E1 ENST00000409035,p.T418P protein_coding, processed_transcript,retained_intron, nonsense_mediated_decay ENST00000409035 nonsynonymous SNV exon5 c.A1252C p.T418P CEIHGSTISGCSTSWAATPSSL CEIHGSTISGCSPSWAATPSSL 9.0 4.0 - - 4071_19:16677428-16677428 T>G_CEIHGSTISGCSPSWAATPSSL 0.0 X:153670602-153670602 A>C 1.0 4317 COLORECTAL - - - - GDI1 ENST00000447750,p.K379T|uc004flj.3,p.K44T|uc004fli.4,p.K379T|NM_001493,p.K379T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004flj.3 nonsynonymous SNV exon1 c.A131C p.K44T EPALELLEPIDQKFVAISDLYEPID EPALELLEPIDQTFVAISDLYEPID 10.0 4.0 - - 4317_X:153670602-153670602 A>C_EPALELLEPIDQTFVAISDLYEPID 0.0 6:42796870-42796870 G>C 0.0 4149 OVARIAN - - - - GLTSCR1L NM_015349,p.G267R|uc003osn.1,p.G267R|ENST00000394168,p.G267R|uc003osm.1,p.G267R|uc003osp.1,p.G267R|ENST00000314073,p.G267R|uc011duw.1,p.G267R|uc003oso.1,p.G267R protein_coding uc011duw.1 nonsynonymous SNV exon5 c.G799C p.G267R VHRQTPNGNSLFGNSSSSPVAQPVT VHRQTPNGNSLFRNSSSSPVAQPVT 6.0 3.0 - - 4149_6:42796870-42796870 G>C_VHRQTPNGNSLFRNSSSSPVAQPVT 0.0 1:35250779-35250779 T>A 1.0 4335 COLORECTAL - - - - GJB3 NM_001005752,p.L139H|uc001bxz.4,p.L139H|uc001bxx.3,p.L139H|ENST00000373366,p.L139H|ENST00000373362,p.L139H|NM_024009,p.L139H|uc001bxy.3,p.L139H protein_coding uc001bxz.4 nonsynonymous SNV exon1 c.T416A p.L139H LWWTYLFSLIFKLIIEFLFLYLLHT LWWTYLFSLIFKHIIEFLFLYLLHT 8.0 6.0 - - 4335_1:35250779-35250779 T>A_LWWTYLFSLIFKHIIEFLFLYLLHT 0.0 11:17793657-17793657 G>A 0.0 4301 MELANOMA - - - - KCNC1 uc009yhc.1,p.R339Q|NM_004976,p.R339Q|NM_001112741,p.R339Q|ENST00000379472,p.R339Q|uc001mnk.4,p.R339Q|ENST00000265969,p.R339Q retained_intron, protein_coding, processed_transcript uc009yhc.1 nonsynonymous SNV exon2 c.G1016A p.R339Q HFVGLRVLGHTLRASTNEFLLLIIF HFVGLRVLGHTLQASTNEFLLLIIF 1.0 7.0 - - 4301_11:17793657-17793657 G>A_HFVGLRVLGHTLQASTNEFLLLIIF 0.0 X:85906066-85906066 C>T 0.0 4245 COLORECTAL - - - - DACH2 NM_001139515,p.A56V|uc011mra.1,p.A56V|uc004eex.2,p.A210V|ENST00000461604,p.A223V|ENST00000373131,p.A210V|ENST00000373125,p.A223V|ENST00000508860,p.A56V|NM_001139514,p.A210V|uc004eew.2,p.A223V|uc010nmq.2,p.A89V|NM_053281,p.A223V protein_coding, processed_transcript, nonsense_mediated_decay uc011mra.1 nonsynonymous SNV exon4 c.C167T p.A56V TPTGITAAAMAEAMKLQKMKLMAMN TPTGITAAAMAEVMKLQKMKLMAMN 3.0 10.0 - - 4245_X:85906066-85906066 C>T_TPTGITAAAMAEVMKLQKMKLMAMN 0.0 11:118183543-118183543 C>T 0.0 4155 MELANOMA - - - - CD3E uc001psq.4,p.P105L|ENST00000361763,p.P105L|ENST00000528600,p.P99L|uc010rya.2,p.P105L|NM_000733,p.P105L retained_intron, protein_coding uc010rya.2 nonsynonymous SNV exon6 c.C314T p.P105L SGYYVCYPRGSKPEDANFYLYLRAR SGYYVCYPRGSKLEDANFYLYLRAR 4.0 3.0 - - 4155_11:118183543-118183543 C>T_SGYYVCYPRGSKLEDANFYLYLRAR 0.0 3:119445098-119445098 C>T 0.0 3903 MELANOMA - - - - MAATS1 NM_033364,p.P255S|uc011bjd.2,p.P129S|uc010hra.2,p.P16S|uc010hqy.2,p.P255S|uc010hqz.3,p.P193S|ENST00000273390,p.P255S|uc003ede.4,p.P255S|uc011bje.2,p.P235S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bje.2 nonsynonymous SNV exon7 c.C703T p.P235S RAREKRAWEASLPALSDTSQFEKRR RAREKRAWEASLSALSDTSQFEKRR 1.0 2.0 - - 3903_3:119445098-119445098 C>T_RAREKRAWEASLSALSDTSQFEKRR 0.0 15:66853612-66853612 C>T 0.0 2591 MELANOMA - - - - LCTL ENST00000341509,p.M174I|uc002aqc.3,p.M174I|NM_207338,p.M174I protein_coding, processed_transcript, nonsense_mediated_decay uc002aqc.3 nonsynonymous SNV exon5 c.G522A p.M174I LQVKYGGWQNVSMANYFRDYANLCF LQVKYGGWQNVSIANYFRDYANLCF 5.0 1.0 - - 2591_15:66853612-66853612 C>T_LQVKYGGWQNVSIANYFRDYANLCF 0.0 7:21469240-21469240 G>A 0.0 4149 OVARIAN - - - - SP4 uc003sva.3,p.V153I|ENST00000222584,p.V153I|NM_003112,p.V153I retained_intron, protein_coding, nonsense_mediated_decay uc003sva.3 nonsynonymous SNV exon3 c.G457A p.V153I KSGNSSTPGQFQVIQVQNPSGSVQY KSGNSSTPGQFQIIQVQNPSGSVQY 4.0 1.0 - - 4149_7:21469240-21469240 G>A_KSGNSSTPGQFQIIQVQNPSGSVQY 0.0 13:39264378-39264378 C>T 0.0 4287 COLORECTAL - - - - FREM2 NM_207361,p.A966V|uc001uwv.3,p.A966V|ENST00000280481,p.A966V protein_coding, processed_transcript uc001uwv.3 nonsynonymous SNV exon1 c.C2897T p.A966V LDVLENGATEITANVIKGTNEETDD LDVLENGATEITVNVIKGTNEETDD 6.0 8.0 - - 4287_13:39264378-39264378 C>T_LDVLENGATEITVNVIKGTNEETDD 0.0 4:2945938-2945938 G>A 1.0 3879 MELANOMA - - - - NOP14 uc010icp.2,p.L331F|uc003ggl.3,p.L585F|ENST00000416614,p.L585F|uc003ggj.1,p.L585F|NM_003703,p.L585F|ENST00000314262,p.L585F|ENST00000398071,p.L585F|ENST00000502735,p.L585F|NM_001291979,p.L585F|NM_001291978,p.L585F protein_coding, processed_transcript uc010icp.2 nonsynonymous SNV exon9 c.C991T p.L331F LSQLLTKCPILSLQDVVKGLFVCCL LSQLLTKCPILSFQDVVKGLFVCCL 8.0 4.0 - - 3879_4:2945938-2945938 G>A_LSQLLTKCPILSFQDVVKGLFVCCL 0.0 3:127398985-127398985 T>C 0.0 4345 COLORECTAL - - - - ABTB1 ENST00000468137,p.L254P|uc003ejt.3,p.L396P|ENST00000393363,p.L254P|NM_172027,p.L396P|uc010hsm.3,p.L123P|NM_032548,p.L254P|uc003eju.3,p.L254P|ENST00000453791,p.L254P|uc003ejr.3,p.L254P|ENST00000232744,p.L396P|uc003ejs.3,p.L371P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010hsm.3 nonsynonymous SNV exon4 c.T368C p.L123P VWRVAKLFRLARLEDQCTEYMAKVI VWRVAKLFRLARPEDQCTEYMAKVI 7.0 6.0 - - 4345_3:127398985-127398985 T>C_VWRVAKLFRLARPEDQCTEYMAKVI 0.0 14:69702800-69702800 C>T 1.0 4000 MELANOMA - - - - EXD2 uc001xkw.3,p.P238S|ENST00000409242,p.P238S|uc010tte.2,p.P363S|NM_001193363,p.P363S|NM_001193362,p.P363S|NM_001193360,p.P363S|uc001xkv.3,p.P363S|uc001xkx.3,p.P238S|NM_018199,p.P238S|uc010aqt.3,p.P363S|ENST00000409675,p.P238S|uc001xky.3,p.P363S|ENST00000449989,p.P238S|ENST00000409949,p.P238S|uc001xku.3,p.P108S|uc001xkt.3,p.P238S|ENST00000409018,p.P363S|ENST00000409014,p.P238S|ENST00000312994,p.P363S|NM_001193361,p.P363S retained_intron, protein_coding, processed_transcript uc010tte.2 nonsynonymous SNV exon6 c.C1087T p.P363S KSPLYDNCFLHAPDGQPLCTCDRRK KSPLYDNCFLHASDGQPLCTCDRRK 7.0 3.0 - - 4000_14:69702800-69702800 C>T_KSPLYDNCFLHASDGQPLCTCDRRK 0.0 11:76893105-76893105 G>A 0.0 4129 NSCLC - - - - MYO7A uc009yut.1,p.A216T|uc001oyc.2,p.A1005T|NM_001127180,p.A1005T|uc001oyd.3,p.A345T|ENST00000458637,p.A1005T|NM_000260,p.A1005T|ENST00000409619,p.A994T|uc001oyb.2,p.A1005T|ENST00000409709,p.A1005T|uc010rsl.2,p.A1005T|NM_001127179,p.A1005T|ENST00000458169,p.A186T|uc010rsm.1,p.A994T|ENST00000409893,p.A1005T retained_intron, protein_coding, processed_transcript uc010rsm.1 nonsynonymous SNV exon25 c.G2980A p.A994T EEDLSEYKFAKFAATYFQGTTTHSY EEDLSEYKFAKFTATYFQGTTTHSY 6.0 9.0 - - 4129_11:76893105-76893105 G>A_EEDLSEYKFAKFTATYFQGTTTHSY 0.0 9:135917636-135917636 G>A 1.0 4160 COLORECTAL - - - - GTF3C5 uc004cci.4,p.E106K|uc004ccj.4,p.E106K|ENST00000440319,p.E59K|ENST00000372097,p.E106K|NM_001122823,p.E106K|ENST00000342018,p.E106K|ENST00000372099,p.E97K|NM_012087,p.E106K|ENST00000372108,p.E106K protein_coding, processed_transcript uc004ccj.4 nonsynonymous SNV exon2 c.G316A p.E106K RQKGVLGTEAHSEVTFDMEILGIIS RQKGVLGTEAHSKVTFDMEILGIIS 10.0 7.0 - - 4160_9:135917636-135917636 G>A_RQKGVLGTEAHSKVTFDMEILGIIS 0.0 11:94592771-94592771 C>T 0.0 4259 COLORECTAL - - - - AMOTL1 uc001pfb.3,p.R676W|ENST00000317829,p.R626W|NM_130847,p.R676W|uc001pfc.3,p.R626W|ENST00000433060,p.R676W|NM_001301007,p.R626W retained_intron, protein_coding, processed_transcript uc001pfc.3 nonsynonymous SNV exon8 c.C1876T p.R626W PALLELVREKEERILALEADMTKWE PALLELVREKEEWILALEADMTKWE 6.0 7.0 - - 4259_11:94592771-94592771 C>T_PALLELVREKEEWILALEADMTKWE 0.0 X:24228853-24228853 C>T 1.0 4196 COLORECTAL - - ID=COSM1119454;OCCURENCE=1(endometrium) - ZFX uc010nfz.3,p.T249M|ENST00000379188,p.T593M|uc004dbd.2,p.T593M|NM_001178085,p.T593M|ENST00000540034,p.T632M|NM_001178086,p.T364M|NM_001178084,p.T593M|uc010nfx.2,p.T364M|ENST00000539115,p.T364M|ENST00000379177,p.T593M|ENST00000338565,p.T543M|ENST00000304543,p.T593M|uc022bua.1,p.T593M|uc011mjv.2,p.T632M|NM_003410,p.T593M|uc004dbf.3,p.T593M protein_coding, processed_transcript uc022bua.1 nonsynonymous SNV exon8 c.C1778T p.T593M CEYRSADSSNLKTHVKTKHSKEMPF CEYRSADSSNLKMHVKTKHSKEMPF 9.0 6.0 - - 4196_X:24228853-24228853 C>T_CEYRSADSSNLKMHVKTKHSKEMPF 0.0 6:32117436-32117436 C>T 0.0 4189 MELANOMA - - - - PRRT1 uc003nzu.3,p.G100E retained_intron, protein_coding, processed_transcript uc003nzu.3 nonsynonymous SNV exon5 c.G299A p.G100E NRSDLHSPPAAPGPRAGPTGAEAPA NRSDLHSPPAAPEPRAGPTGAEAPA 5.0 6.0 - - 4189_6:32117436-32117436 C>T_NRSDLHSPPAAPEPRAGPTGAEAPA 0.0 4:25005702-25005702 C>T 0.0 3903 MELANOMA - - - - LGI2 ENST00000382114,p.E337K|NM_018176,p.E337K|uc003grf.2,p.E337K protein_coding uc003grf.2 nonsynonymous SNV exon8 c.G1009A p.E337K KPNDIELFQIDDETFFVIADSSKAG KPNDIELFQIDDKTFFVIADSSKAG 3.0 6.0 - - 3903_4:25005702-25005702 C>T_KPNDIELFQIDDKTFFVIADSSKAG 0.0 9:35556365-35556365 C>T 1.0 4275 COLORECTAL 0.0014 - ID=COSM1195986;OCCURENCE=1(lung) - RUSC2 uc003zww.3,p.T968M|ENST00000361226,p.T968M|NM_014806,p.T968M|NM_001135999,p.T968M|ENST00000455600,p.T968M|uc003zwx.4,p.T968M protein_coding, processed_transcript uc003zwx.4 nonsynonymous SNV exon5 c.C2903T p.T968M LTCPDFQDPFSLTEKPPAEFCLSPD LTCPDFQDPFSLMEKPPAEFCLSPD 6.0 5.0 - - 4275_9:35556365-35556365 C>T_LTCPDFQDPFSLMEKPPAEFCLSPD 0.0 12:6494516-6494516 G>A 1.0 4180 BREAST - - - - LTBR ENST00000539925,p.C129Y|ENST00000541102,p.C41Y|ENST00000228918,p.C148Y|uc001qny.2,p.C148Y|NM_001270987,p.C129Y|uc010sfc.2,p.C129Y|ENST00000544454,p.C41Y|uc001qnz.2,p.C143Y|ENST00000536876,p.C143Y|NM_002342,p.C148Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010sfc.2 nonsynonymous SNV exon4 c.G386A p.C129Y ALECTHCELLSDCPPGTEAELKDEV ALECTHCELLSDYPPGTEAELKDEV 10.0 6.0 - - 4180_12:6494516-6494516 G>A_ALECTHCELLSDYPPGTEAELKDEV 0.0 14:92491728-92491728 C>T 0.0 2591 MELANOMA - - ID=COSM553972;OCCURENCE=1(lung) 1 TRIP11 NM_004239,p.E80K|ENST00000267622,p.E80K|uc001xzy.3,p.E80K protein_coding, processed_transcript, nonsense_mediated_decay uc001xzy.3 nonsynonymous SNV exon3 c.G238A p.E80K NERLKKLCTDLEEKHEASEIQIKQQ NERLKKLCTDLEKKHEASEIQIKQQ 6.0 3.0 - - 2591_14:92491728-92491728 C>T_NERLKKLCTDLEKKHEASEIQIKQQ 0.0 16:1391303-1391303 G>T 0.0 4126 NSCLC - - - - BAIAP3 NM_003933,p.D217Y|ENST00000397488,p.D199Y|uc021tag.1,p.D159Y|uc002clj.3,p.D199Y|uc010uva.2,p.D154Y|ENST00000426824,p.D182Y|NM_001199097,p.D182Y|NM_001286464,p.D199Y|ENST00000397489,p.D199Y|uc010uuz.2,p.D182Y|ENST00000562208,p.D159Y|ENST00000324385,p.D217Y|ENST00000568887,p.D154Y|uc010uvc.1,p.D182Y|uc010uvb.2,p.D234Y|NM_001199099,p.D154Y|NM_001199096,p.D182Y|ENST00000421665,p.D182Y|NM_001199098,p.D159Y|uc002clk.2,p.D217Y retained_intron, protein_coding, processed_transcript uc021tag.1 nonsynonymous SNV exon8 c.G475T p.D159Y KNLLAKDPNGFSDPYCMLGILPASD KNLLAKDPNGFSYPYCMLGILPASD 6.0 6.0 - - 4126_16:1391303-1391303 G>T_KNLLAKDPNGFSYPYCMLGILPASD 0.0 2:219514078-219514078 G>A 1.0 3903 MELANOMA - - - - ZNF142 uc002vil.3,p.H146Y|NM_001105537,p.H185Y|uc002vin.4,p.H185Y|ENST00000449707,p.H185Y|uc010fvt.4,p.H22Y|ENST00000411696,p.H185Y|uc002vim.4,p.H22Y protein_coding, nonsense_mediated_decay uc010fvt.4 nonsynonymous SNV exon7 c.C64T p.H22Y KKRTHLVEHLHLHFPDPSLQCPNCQ KKRTHLVEHLHLYFPDPSLQCPNCQ 7.0 9.0 - - 3903_2:219514078-219514078 G>A_KKRTHLVEHLHLYFPDPSLQCPNCQ 0.0 7:66406970-66406970 T>G 1.0 4287 COLORECTAL - - - - TMEM248 ENST00000424964,p.F40V|ENST00000413593,p.F40V|ENST00000341567,p.F40V|uc003tvk.3,p.F40V|ENST00000433271,p.F40V|ENST00000418375,p.F40V|ENST00000607045,p.F40V|NM_017994,p.F40V retained_intron, protein_coding, nonsense_mediated_decay uc003tvk.3 nonsynonymous SNV exon2 c.T118G p.F40V SAMAIAFLTLGYFFKIKEIKSPEMA SAMAIAFLTLGYVFKIKEIKSPEMA 9.0 5.0 - - 4287_7:66406970-66406970 T>G_SAMAIAFLTLGYVFKIKEIKSPEMA 0.0 10:97810020-97810020 A>C 0.0 4345 COLORECTAL - - - - CCNJ NM_001134375,p.K26T|NM_019084,p.K26T|ENST00000534974,p.K26T|NM_001134376,p.K26T|ENST00000465148,p.K26T|uc010qoq.2,p.K26T|ENST00000403870,p.K26T|ENST00000265992,p.K26T|uc001kln.3,p.K26T|uc001klm.3,p.K26T protein_coding, processed_transcript, nonsense_mediated_decay uc010qoq.2 nonsynonymous SNV exon3 c.A77C p.K26T ADIHQALRYKELKLPSYKGQSPQLS ADIHQALRYKELTLPSYKGQSPQLS 4.0 6.0 - - 4345_10:97810020-97810020 A>C_ADIHQALRYKELTLPSYKGQSPQLS 0.0 10:70406510-70406510 C>G 0.0 3775 CERVICAL - - - 1 TET1 NM_030625,p.H1342D|ENST00000373644,p.H1342D|uc001jok.4,p.H1342D protein_coding uc001jok.4 nonsynonymous SNV exon4 c.C4024G p.H1342D MHQRLPTLPGISHETPLPESALTLR MHQRLPTLPGISDETPLPESALTLR 2.0 6.0 - - 3775_10:70406510-70406510 C>G_MHQRLPTLPGISDETPLPESALTLR 0.0 1:231298819-231298819 C>T 0.0 4278 COLORECTAL - - - - TRIM67 ENST00000449018,p.A35V|NM_001300889,p.A35V protein_coding NM_001300889 nonsynonymous SNV exon1 c.C104T p.A35V SHNVCLPCARTIAVQTPDGGSAAGG SHNVCLPCARTIVVQTPDGGSAAGG 1.0 6.0 - - 4278_1:231298819-231298819 C>T_SHNVCLPCARTIVVQTPDGGSAAGG 0.0 2:25358487-25358487 G>A 1.0 4259 COLORECTAL - - - - EFR3B uc010eyh.3,p.R488H|ENST00000403714,p.R488H|NM_014971,p.R488H|uc002rfw.2,p.R488H|ENST00000264719,p.R367H|ENST00000401432,p.R488H|ENST00000402191,p.R453H|ENST00000405108,p.R340H protein_coding uc010eyh.3 nonsynonymous SNV exon13 c.G1463A p.R488H EILISFIDRHGNRHKFSTISTLSDI EILISFIDRHGNHHKFSTISTLSDI 5.0 9.0 - - 4259_2:25358487-25358487 G>A_EILISFIDRHGNHHKFSTISTLSDI 0.0 19:54691142-54691142 C>G 1.0 4335 COLORECTAL - - - - MBOAT7 uc010yem.2,p.W60C|ENST00000245615,p.W78C|ENST00000391754,p.W78C|NM_024298,p.W78C|ENST00000449249,p.W30C|ENST00000453320,p.W78C|NM_001146082,p.W78C|uc002qdr.3,p.W78C|uc002qdt.4,p.W78C|uc002qdq.3,p.W78C|ENST00000414665,p.W78C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010yem.2 nonsynonymous SNV exon2 c.G180C p.W60C AQPCSCHALALAWTFSYLLFFRALS AQPCSCHALALACTFSYLLFFRALS 6.0 10.0 - - 4335_19:54691142-54691142 C>G_AQPCSCHALALACTFSYLLFFRALS 0.0 10:135089031-135089031 C>T 0.0 4287 COLORECTAL 0.01 - - - ADAM8 ENST00000486609,p.R36H|NM_001164489,p.R36H|ENST00000415217,p.R36H|ENST00000445355,p.R36H|uc021qbe.1,p.R36H|uc009ybi.3,p.R36H|NM_001109,p.R36H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021qbe.1 nonsynonymous SNV exon2 c.G107A p.R36H ALMEQYEVVLPWRLPGPRVRRALPS ALMEQYEVVLPWHLPGPRVRRALPS 6.0 10.0 - - 4287_10:135089031-135089031 C>T_ALMEQYEVVLPWHLPGPRVRRALPS 0.0 6:33152774-33152774 C>T 1.0 4155 MELANOMA - - - - COL11A2 ENST00000341947,p.E312K|ENST00000374714,p.E286K|NM_080680,p.E312K|ENST00000457788,p.E312K|uc003ocx.1,p.E312K protein_coding, processed_transcript uc003ocx.1 nonsynonymous SNV exon7 c.G934A p.E312K EEILESSLLPPLEEEQTDLQVPPTA EEILESSLLPPLKEEQTDLQVPPTA 5.0 9.0 - - 4155_6:33152774-33152774 C>T_EEILESSLLPPLKEEQTDLQVPPTA 0.0 1:155156283-155156283 G>A 1.0 3713 MELANOMA - - - - TRIM46 uc001fhs.2,p.D633N|NM_001256600,p.D591N|uc031pps.1,p.D620N|NM_025058,p.D633N|uc010pfa.2,p.D507N|ENST00000334634,p.D633N|uc001fhu.2,p.D610N|NM_001256599,p.D610N|ENST00000545012,p.D507N|NM_001256601,p.D620N|ENST00000368382,p.D610N|NM_001282378,p.D507N protein_coding, processed_transcript uc031pps.1 nonsynonymous SNV exon10 c.G1858A p.D620N GAPDVISPRYDPDSGHDSGAEDATV GAPDVISPRYDPNSGHDSGAEDATV 4.0 1.0 - - 3713_1:155156283-155156283 G>A_GAPDVISPRYDPNSGHDSGAEDATV 0.0 20:45644820-45644820 G>T 0.0 4158 COLORECTAL - - - - EYA2 ENST00000327619,p.S100I|ENST00000317304,p.S100I|NM_005244,p.S100I|uc010ghp.3,p.S100I|ENST00000357410,p.S100I|ENST00000458636,p.S53I|uc002xsq.3,p.S100I|uc002xsm.3,p.S100I|NM_172110,p.S100I protein_coding, processed_transcript, nonsense_mediated_decay uc010ghp.3 nonsynonymous SNV exon5 c.G299T p.S100I PPPAQAYGIPSYSIKTEDSLNHSPG PPPAQAYGIPSYIIKTEDSLNHSPG 6.0 6.0 - - 4158_20:45644820-45644820 G>T_PPPAQAYGIPSYIIKTEDSLNHSPG 0.0 12:22076755-22076755 G>C 0.0 4284 COLORECTAL - - - - ABCC9 ENST00000326684,p.H148D|uc001rfk.3,p.H148D protein_coding uc001rfk.3 nonsynonymous SNV exon7 c.C442G p.H148D GFSHHESKSCYQHS GFSHHESKSCYQDS 6.0 7.0 - - 4284_12:22076755-22076755 G>C_GFSHHESKSCYQDS 0.0 16:11990535-11990535 C>G 1.0 4134 NSCLC - - - - GSPT1 uc002dbt.3,p.E182Q|ENST00000420576,p.E44Q|NM_002094,p.E182Q|ENST00000563468,p.E44Q|uc010bux.3,p.E44Q|uc002dbu.3,p.E181Q|NM_001130007,p.E44Q|ENST00000568849,p.E75Q|ENST00000439887,p.E181Q|ENST00000562169,p.E74Q|ENST00000434724,p.E182Q|NM_001130006,p.E181Q retained_intron, protein_coding, processed_transcript uc010bux.3 nonsynonymous SNV exon4 c.G130C p.E44Q PGGGSLGDGRPPEESAHEMMEEEEE PGGGSLGDGRPPQESAHEMMEEEEE 10.0 7.0 - - 4134_16:11990535-11990535 C>G_PGGGSLGDGRPPQESAHEMMEEEEE 0.0 18:8798213-8798213 C>T 1.0 3713 MELANOMA - - - - MTCL1 ENST00000306329,p.S1106F|ENST00000400050,p.S746F|uc002knr.2,p.S787F|ENST00000306285,p.S102F|uc002knq.2,p.S746F|uc002kns.2,p.S117F|ENST00000517570,p.S746F|NM_015210,p.S787F|ENST00000518815,p.S102F|ENST00000359865,p.S787F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002kns.2 nonsynonymous SNV exon3 c.C350T p.S117F SDRGCGFPVGEHSPHSRVQIGDHSL SDRGCGFPVGEHFPHSRVQIGDHSL 6.0 1.0 - - 3713_18:8798213-8798213 C>T_SDRGCGFPVGEHFPHSRVQIGDHSL 0.0 7:70246739-70246739 G>A 1.0 3716 MELANOMA - - - - AUTS2 uc003tvx.4,p.A691T|ENST00000342771,p.A715T|uc003tvw.4,p.A715T|ENST00000406775,p.A691T|NM_015570,p.A715T|uc011keg.2,p.A167T|NM_001127231,p.A691T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011keg.2 nonsynonymous SNV exon7 c.G499A p.A167T HDLARPSTLFSAAGAAHPTGTPFGP HDLARPSTLFSATGAAHPTGTPFGP 8.0 3.0 - - 3716_7:70246739-70246739 G>A_HDLARPSTLFSATGAAHPTGTPFGP 0.0 1:101004617-101004617 T>A 1.0 4301 MELANOMA - - - - GPR88 uc021oqq.1,p.I32N|ENST00000315033,p.I32N|NM_022049,p.I32N|uc001dth.3,p.I32N protein_coding uc021oqq.1 nonsynonymous SNV exon1 c.T95A p.I32N LCEEEESWAGRRIPVSLLYSGLAIG LCEEEESWAGRRNPVSLLYSGLAIG 4.0 3.0 - - 4301_1:101004617-101004617 T>A_LCEEEESWAGRRNPVSLLYSGLAIG 0.0 1:155726757-155726757 G>A 1.0 3879 MELANOMA - - - - GON4L uc001fly.1,p.H1837Y|uc001flz.2,p.H1837Y|NM_001282860,p.H1837Y|NM_001282858,p.H1837Y|uc001fmb.4,p.H1033Y|ENST00000368331,p.H1837Y|uc009wrh.1,p.H1837Y|ENST00000271883,p.H1837Y|ENST00000437809,p.H1837Y|NM_001282856,p.H1837Y|uc001fma.1,p.H1837Y retained_intron, protein_coding, processed_transcript uc009wrh.1 nonsynonymous SNV exon27 c.C5509T p.H1837Y KNKRKKEIGVQNHDKETEWPDGAKD KNKRKKEIGVQNYDKETEWPDGAKD 10.0 8.0 - - 3879_1:155726757-155726757 G>A_KNKRKKEIGVQNYDKETEWPDGAKD 0.0 5:154397012-154397012 G>A 0.0 3466 MELANOMA - - - - KIF4B NM_001099293,p.G1198E|uc010jih.1,p.G1198E|ENST00000435029,p.G1198E protein_coding uc010jih.1 nonsynonymous SNV exon1 c.G3593A p.G1198E APSPFDLPESKHGATEYQQNKPPGK APSPFDLPESKHEATEYQQNKPPGK 1.0 9.0 - - 3466_5:154397012-154397012 G>A_APSPFDLPESKHEATEYQQNKPPGK 0.0 8:68396015-68396015 C>G 0.0 4258 ENDOMETRIAL - - - - CPA6 ENST00000518549,p.V276L|uc003xxs.2,p.V276L protein_coding, nonsense_mediated_decay uc003xxs.2 nonsynonymous SNV exon8 c.G826C p.V276L RCRGVDANRNWKVKWCGKFGTNWDP RCRGVDANRNWKLKWCGKFGTNWDP 1.0 8.0 - - 4258_8:68396015-68396015 C>G_RCRGVDANRNWKLKWCGKFGTNWDP 0.0 9:8521438-8521438 A>G 1.0 4326 BREAST - - - - PTPRD NM_130392,p.V267A|ENST00000486161,p.V267A|uc003zkk.3,p.V267A|NM_001040712,p.V264A|ENST00000355233,p.V267A|NM_130391,p.V267A|uc003zks.3,p.V257A|NM_001171025,p.V257A|ENST00000381196,p.V267A|ENST00000537002,p.V264A|uc003zkr.3,p.V261A|uc003zkp.3,p.V267A|NM_130393,p.V261A|ENST00000397611,p.V264A|ENST00000358503,p.V254A|ENST00000356435,p.V267A|uc003zkq.3,p.V267A|NM_002839,p.V267A|ENST00000360074,p.V254A|ENST00000397617,p.V257A|uc022bdj.1,p.V264A|ENST00000397606,p.V257A|ENST00000540109,p.V267A retained_intron, protein_coding, processed_transcript uc022bdj.1 nonsynonymous SNV exon8 c.T791C p.V264A ITCVAVGSPMPYVKWMLGAEDLTPE ITCVAVGSPMPYAKWMLGAEDLTPE 5.0 9.0 - - 4326_9:8521438-8521438 A>G_ITCVAVGSPMPYAKWMLGAEDLTPE 0.0 5:89701603-89701603 G>A 1.0 3678 MELANOMA - - - - CETN3 ENST00000518458,p.A49V|NM_004365,p.A56V|ENST00000522565,p.A56V|uc003kjo.3,p.A56V|NM_001297765,p.A56V|ENST00000522842,p.A56V|ENST00000522083,p.A56V|NM_001297768,p.A56V|ENST00000283122,p.A56V|ENST00000522864,p.A56V protein_coding, nonsense_mediated_decay uc003kjo.3 nonsynonymous SNV exon3 c.C167T p.A56V AIDYHELKVAMRALGFDVKKADVLK AIDYHELKVAMRVLGFDVKKADVLK 9.0 2.0 - - 3678_5:89701603-89701603 G>A_AIDYHELKVAMRVLGFDVKKADVLK 0.0 1:43905656-43905656 G>A 0.0 4246 COLORECTAL - - - - SZT2 ENST00000372442,p.A1484T|ENST00000562955,p.A2326T|NM_015284,p.A2326T|uc001cjk.3,p.A2326T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001cjk.3 nonsynonymous SNV exon50 c.G6976A p.A2326T EEKLRGAARQALADAIIELQLLPAS EEKLRGAARQALTDAIIELQLLPAS 8.0 8.0 - - 4246_1:43905656-43905656 G>A_EEKLRGAARQALTDAIIELQLLPAS 0.0 2:75425861-75425861 G>A 1.0 4284 COLORECTAL - - - - TACR1 NM_015727,p.T67M|uc002sng.2,p.T67M|ENST00000305249,p.T67M|uc002snh.3,p.T67M|NM_001058,p.T67M|ENST00000409848,p.T67M protein_coding, processed_transcript uc002snh.3 nonsynonymous SNV exon1 c.C200T p.T67M WIILAHKRMRTVTNYFLVNLAFAEA WIILAHKRMRTVMNYFLVNLAFAEA 4.0 10.0 - - 4284_2:75425861-75425861 G>A_WIILAHKRMRTVMNYFLVNLAFAEA 0.0 9:114345825-114345825 C>A 1.0 4284 COLORECTAL - - - - PTGR1 uc010mue.3,p.G141V|NM_001146109,p.G141V|ENST00000238248,p.G18V|uc004bfj.3,p.G18V|ENST00000538962,p.G141V|NM_012212,p.G141V|NM_001146108,p.G141V|ENST00000407693,p.G141V|ENST00000309195,p.G141V|uc004bfh.2,p.G141V|uc011lwr.2,p.G141V|uc004bfi.3,p.G141V retained_intron, protein_coding, nonsense_mediated_decay uc011lwr.2 nonsynonymous SNV exon6 c.G422T p.G141V AYFGLLEICGVKGGETVMVNAAAGA AYFGLLEICGVKVGETVMVNAAAGA 8.0 6.0 - - 4284_9:114345825-114345825 C>A_AYFGLLEICGVKVGETVMVNAAAGA 0.0 20:1538280-1538280 G>A 0.0 4110 BILE DUCT - - - - SIRPD ENST00000381621,p.P7L|uc002wfi.3,p.P7L|ENST00000381623,p.P7L|NM_178460,p.P7L protein_coding uc002wfi.3 nonsynonymous SNV exon1 c.C20T p.P7L MPIPASPLHPPLPSLLLYL MPIPASLLHPPLPSLLLYL 2.0 6.0 - - 4110_20:1538280-1538280 G>A_MPIPASLLHPPLPSLLLYL 0.0 3:150690404-150690404 G>A 0.0 4346 COLORECTAL - - - - CLRN1 uc031sbx.1,p.P31L|uc021xfv.1,p.P31L|NM_001256819,p.P31L|ENST00000327047,p.P31L|uc021xfs.1,p.P31L|uc003eyk.1,p.P31L|NM_174878,p.P31L|ENST00000328863,p.P31L|NM_001195794,p.P31L retained_intron, protein_coding uc031sbx.1 nonsynonymous SNV exon1 c.C92T p.P31L ACALGVVTALGTPLWIKATVLCKTG ACALGVVTALGTLLWIKATVLCKTG 1.0 10.0 - - 4346_3:150690404-150690404 G>A_ACALGVVTALGTLLWIKATVLCKTG 0.0 1:42047820-42047820 C>A 1.0 4317 COLORECTAL - - - - HIVEP3 NM_024503,p.E883D|uc001cgz.4,p.E883D|ENST00000372583,p.E883D|ENST00000247584,p.E883D|ENST00000429157,p.E883D|NM_001127714,p.E883D|ENST00000372584,p.E883D|uc001cha.4,p.E883D protein_coding, processed_transcript uc001cha.4 nonsynonymous SNV exon3 c.G2649T p.E883D PEPPPKEPEKTEEFQWPQRSQTLAQ PEPPPKEPEKTEDFQWPQRSQTLAQ 4.0 4.0 - - 4317_1:42047820-42047820 C>A_PEPPPKEPEKTEDFQWPQRSQTLAQ 0.0 6:112510361-112510361 G>C 1.0 4284 COLORECTAL - - - - LAMA4 uc003pvu.3,p.C255W|ENST00000521398,p.C255W|ENST00000230538,p.C255W|NM_001105206,p.C255W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003pvu.3 nonsynonymous SNV exon7 c.C765G p.C255W CGGGPCDSVTGECLEEGFEPPTGMD CGGGPCDSVTGEWLEEGFEPPTGMD 9.0 8.0 - - 4284_6:112510361-112510361 G>C_CGGGPCDSVTGEWLEEGFEPPTGMD 0.0 7:12414647-12414647 C>T 0.0 3903 MELANOMA - - - - VWDE ENST00000452576,p.D411N|NM_001135924,p.D411N|ENST00000275358,p.D411N|uc003ssj.2,p.D411N retained_intron, protein_coding, nonsense_mediated_decay uc003ssj.2 nonsynonymous SNV exon8 c.G1231A p.D411N VNEDFLWNNYIPDSIQIKVKDVPTA VNEDFLWNNYIPNSIQIKVKDVPTA 2.0 1.0 - - 3903_7:12414647-12414647 C>T_VNEDFLWNNYIPNSIQIKVKDVPTA 0.0 10:5790883-5790883 C>G 1.0 4266 COLORECTAL - - - - FAM208B uc001iik.3,p.D677E|NM_017782,p.D1833E|ENST00000328090,p.D1833E|uc001iij.3,p.D1833E retained_intron, protein_coding, processed_transcript uc001iik.3 nonsynonymous SNV exon2 c.C2031G p.D677E DMHYELSGDSDLDLLGDCRNPRLDL DMHYELSGDSDLELLGDCRNPRLDL 7.0 4.0 - - 4266_10:5790883-5790883 C>G_DMHYELSGDSDLELLGDCRNPRLDL 0.0 3:195511508-195511508 T>A 1.0 4317 COLORECTAL - - - 2 MUC4 ENST00000466475,p.T2315S|NM_018406,p.T2315S|ENST00000475231,p.T2315S|ENST00000477086,p.T2315S|ENST00000463781,p.T2315S|ENST00000477756,p.T2315S|ENST00000470451,p.T2315S|ENST00000480843,p.T2315S|ENST00000479406,p.T2315S|uc021xjp.1,p.T2315S|ENST00000462323,p.T2315S|ENST00000478156,p.T2315S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021xjp.1 nonsynonymous SNV exon2 c.A6943T p.T2315S TPLHVTDASSASTGHATPLPVTSLS TPLHVTDASSASSGHATPLPVTSLS 10.0 6.0 - - 4317_3:195511508-195511508 T>A_TPLHVTDASSASSGHATPLPVTSLS 0.0 4:77661506-77661506 G>A 0.0 4189 MELANOMA - - - - SHROOM3 uc003hkg.3,p.G505E|uc011cbz.1,p.G551E|uc011cbx.2,p.G727E|ENST00000296043,p.G727E|NM_020859,p.G727E|uc003hkf.1,p.G602E retained_intron, protein_coding, processed_transcript uc011cbz.1 nonsynonymous SNV exon4 c.G1652A p.G551E HLDRQVSYPRPEGRTGASASFNSTD HLDRQVSYPRPEERTGASASFNSTD 5.0 2.0 - - 4189_4:77661506-77661506 G>A_HLDRQVSYPRPEERTGASASFNSTD 0.0 12:50153076-50153076 G>A 1.0 4000 MELANOMA - - - - TMBIM6 NM_003217,p.A196T|ENST00000267115,p.A196T|ENST00000552699,p.A254T|uc001ruy.2,p.A254T|ENST00000395006,p.A196T|ENST00000547798,p.A159T|ENST00000549385,p.A196T|uc001rux.2,p.A196T|NM_001098576,p.A254T|uc001ruz.2,p.A196T|ENST00000423828,p.A254T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001ruz.2 nonsynonymous SNV exon8 c.G586A p.A196T FVLFDTQLIIEKAEHGDQDYIWHCI FVLFDTQLIIEKTEHGDQDYIWHCI 10.0 6.0 - - 4000_12:50153076-50153076 G>A_FVLFDTQLIIEKTEHGDQDYIWHCI 0.0 17:34068302-34068302 G>A 0.0 4160 COLORECTAL - - - - RASL10B ENST00000268864,p.R197H|NM_033315,p.R197H|uc002hju.3,p.R197H protein_coding, processed_transcript uc002hju.3 nonsynonymous SNV exon4 c.G590A p.R197H VHAALRFQGALRRNRCAIM VHAALRFQGALRHNRCAIM 5.0 9.0 - - 4160_17:34068302-34068302 G>A_VHAALRFQGALRHNRCAIM 0.0 3:141644507-141644507 G>C 1.0 4126 NSCLC - - - - ATP1B3 uc003eug.1,p.L268F|NM_001679,p.L268F|ENST00000286371,p.L268F|ENST00000462082,p.L78F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003eug.1 nonsynonymous SNV exon7 c.G804C p.L268F ANLKSQDDRDKFLGRVMFKITARA ANLKSQDDRDKFFGRVMFKITARA 10.0 10.0 - - 4126_3:141644507-141644507 G>C_ANLKSQDDRDKFFGRVMFKITARA 0.0 X:89177518-89177518 A>C 0.0 4278 COLORECTAL - - - - TGIF2LX uc022bzr.1,p.K145T|uc004efe.3,p.K145T|NM_138960,p.K145T|ENST00000283891,p.K145T|ENST00000561129,p.K145T protein_coding uc022bzr.1 nonsynonymous SNV exon1 c.A434C p.K145T THLQSTEASVPAKSGPSGPDNVQSL THLQSTEASVPATSGPSGPDNVQSL 1.0 7.0 - - 4278_X:89177518-89177518 A>C_THLQSTEASVPATSGPSGPDNVQSL 0.0 14:51464776-51464776 G>A 0.0 4346 COLORECTAL - - - - TRIM9 ENST00000360392,p.T532M|NM_052978,p.T532M|uc001wyz.4,p.T532M retained_intron, protein_coding, processed_transcript uc001wyz.4 nonsynonymous SNV exon7 c.C1595T p.T532M GVSPYSKTLVLQTSEGKALQQYPSE GVSPYSKTLVLQMSEGKALQQYPSE 3.0 1.0 - - 4346_14:51464776-51464776 G>A_GVSPYSKTLVLQMSEGKALQQYPSE 0.0 11:6530417-6530417 G>A 0.0 2591 MELANOMA - - - - DNHD1 ENST00000527990,p.G384R|ENST00000354685,p.G384R|uc001mdq.3,p.G73R|uc001mdw.4,p.G384R|NM_173589,p.G384R|NM_144666,p.G384R|ENST00000254579,p.G384R|uc001mdp.3,p.G384R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001mdw.4 nonsynonymous SNV exon6 c.G1150A p.G384R SFTCWKKNVRLQGLHRLQKFLENHL SFTCWKKNVRLQRLHRLQKFLENHL 3.0 5.0 - - 2591_11:6530417-6530417 G>A_SFTCWKKNVRLQRLHRLQKFLENHL 0.0 12:123072294-123072294 C>T 0.0 4134 NSCLC - - - - KNTC1 ENST00000333479,p.S1256F|NM_014708,p.S1256F|uc001ucv.3,p.S1256F retained_intron, protein_coding, processed_transcript uc001ucv.3 nonsynonymous SNV exon39 c.C3767T p.S1256F GDGLVLPVINSISALLQNLQESSQW GDGLVLPVINSIFALLQNLQESSQW 9.0 2.0 - - 4134_12:123072294-123072294 C>T_GDGLVLPVINSIFALLQNLQESSQW 0.0 2:179597700-179597700 G>T 0.0 4095 COLORECTAL - - - - TTN uc031rqd.1,p.D5084E|NM_133378,p.D4157E|uc002umz.1,p.D818E|ENST00000342992,p.D4157E|ENST00000591111,p.D5084E|NM_001267550,p.D5401E|ENST00000589042,p.D5401E|NM_001256850,p.D5084E|uc021vsy.2,p.D4157E|uc031rqc.1,p.D5401E retained_intron, protein_coding uc031rqd.1 nonsynonymous SNV exon53 c.C15252A p.D5084E SWFKDGKEIAASDRYRIAFVEGTAS SWFKDGKEIAASERYRIAFVEGTAS 6.0 8.0 - - 4095_2:179597700-179597700 G>T_SWFKDGKEIAASERYRIAFVEGTAS 0.0 3:118935103-118935103 C>T 1.0 4345 COLORECTAL - - - - B4GALT4 uc003eci.3,p.E296K|NM_212543,p.E296K|ENST00000359213,p.E296K|uc003ech.3,p.E296K|NM_003778,p.E296K|ENST00000393765,p.E296K|ENST00000483209,p.E296K|uc003ecg.3,p.E296K protein_coding, processed_transcript, nonsense_mediated_decay uc003eci.3 nonsynonymous SNV exon7 c.G886A p.E296K YTMVFHTRDKGNEVNAERMKLLHQV YTMVFHTRDKGNKVNAERMKLLHQV 7.0 10.0 - - 4345_3:118935103-118935103 C>T_YTMVFHTRDKGNKVNAERMKLLHQV 0.0 22:31846339-31846339 A>G 0.0 4317 COLORECTAL - - - - EIF4ENIF1 NM_019843,p.L507P|ENST00000330125,p.L507P|uc003akz.2,p.L507P|uc003ala.2,p.L507P|ENST00000418321,p.L105P|uc003aky.2,p.L186P|NM_001164501,p.L507P|ENST00000397525,p.L507P retained_intron, protein_coding, nonsense_mediated_decay uc003ala.2 nonsynonymous SNV exon11 c.T1520C p.L507P GTLPSQPKVSRNLESHLMSPAEIPG GTLPSQPKVSRNPESHLMSPAEIPG 8.0 3.0 - - 4317_22:31846339-31846339 A>G_GTLPSQPKVSRNPESHLMSPAEIPG 0.0 2:71017739-71017739 C>T 0.0 4213 COLORECTAL - - - - FIGLA NM_001004311,p.R11H|ENST00000332372,p.R11H|uc002she.1,p.R11H protein_coding uc002she.1 nonsynonymous SNV exon1 c.G32A p.R11H MDPAPGVLDPRAAPPALLGTPQA MDPAPGVLDPHAAPPALLGTPQA 3.0 8.0 - - 4213_2:71017739-71017739 C>T_MDPAPGVLDPHAAPPALLGTPQA 0.0 9:140086742-140086742 C>A 1.0 4234 NSCLC - - - - TPRN uc004clt.3,p.R681M|ENST00000321773,p.R620M|ENST00000333046,p.R479M retained_intron, protein_coding, processed_transcript uc004clt.3 nonsynonymous SNV exon3 c.G2042T p.R681M SKWQEQALEQAPREAEPPPVEAMVR SKWQEQALEQAPMEAEPPPVEAMVR 8.0 3.0 - - 4234_9:140086742-140086742 C>A_SKWQEQALEQAPMEAEPPPVEAMVR 0.0 7:92761222-92761222 T>C 1.0 3903 MELANOMA - - - - SAMD9L uc003umh.1,p.T1355A|uc022ahh.1,p.T1355A|uc003umi.1,p.T1355A|uc010lfd.1,p.T1355A|uc003umj.1,p.T1355A|ENST00000437805,p.T1355A|uc003umk.1,p.T1355A|ENST00000318238,p.T1355A|uc010lfb.1,p.T1355A|NM_152703,p.T1355A|uc010lfc.1,p.T1355A|ENST00000411955,p.T1355A protein_coding, processed_transcript uc022ahh.1 nonsynonymous SNV exon1 c.A4063G p.T1355A LLEYLNPNYKDATTMESIVNEYAFL LLEYLNPNYKDAATMESIVNEYAFL 8.0 4.0 - - 3903_7:92761222-92761222 T>C_LLEYLNPNYKDAATMESIVNEYAFL 0.0 12:50589640-50589640 G>A 1.0 3713 MELANOMA - - - - LIMA1 ENST00000552720,p.R335C|ENST00000341247,p.R335C|NM_001243775,p.R33C|ENST00000552823,p.R175C|uc001rwj.4,p.R335C|ENST00000552491,p.R33C|uc001rwg.4,p.R33C|ENST00000552909,p.R175C|uc001rwh.4,p.R175C|NM_016357,p.R335C|ENST00000547825,p.R33C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001rwj.4 nonsynonymous SNV exon8 c.C1003T p.R335C EKISANENSLAVRSTPAEDDSRDSQ EKISANENSLAVCSTPAEDDSRDSQ 10.0 10.0 - - 3713_12:50589640-50589640 G>A_EKISANENSLAVCSTPAEDDSRDSQ 0.0 16:22237253-22237253 G>T 1.0 4234 NSCLC - - - - EEF2K ENST00000263026,p.R68L|ENST00000568269,p.R68L|uc002dki.3,p.R68L|NM_013302,p.R68L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002dki.3 nonsynonymous SNV exon2 c.G203T p.R68L VNKYYSNLTKSERYSSSGSPANSFH VNKYYSNLTKSELYSSSGSPANSFH 8.0 10.0 - - 4234_16:22237253-22237253 G>T_VNKYYSNLTKSELYSSSGSPANSFH 0.0 17:1840152-1840152 C>T 0.0 4245 COLORECTAL - - - - RTN4RL1 uc002ftp.3,p.D322N|ENST00000331238,p.D322N|NM_178568,p.D322N protein_coding uc002ftp.3 nonsynonymous SNV exon2 c.G964A p.D322N PHQIKSHTLTTTDRAARKEHHSPHG PHQIKSHTLTTTNRAARKEHHSPHG 4.0 5.0 - - 4245_17:1840152-1840152 C>T_PHQIKSHTLTTTNRAARKEHHSPHG 0.0 19:6733003-6733003 G>A 1.0 3713 MELANOMA - - - - GPR108 ENST00000430424,p.H68Y|NM_001080452,p.H310Y|uc002mfp.3,p.H310Y|ENST00000264080,p.H310Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002mfp.3 nonsynonymous SNV exon10 c.C928T p.H310Y ALAFTKSISLLFHSINYYFINSQGH ALAFTKSISLLFYSINYYFINSQGH 8.0 8.0 - - 3713_19:6733003-6733003 G>A_ALAFTKSISLLFYSINYYFINSQGH 0.0 6:136687137-136687137 G>A 0.0 4155 MELANOMA - - - - MAP7 ENST00000544465,p.P322S|uc010kgv.3,p.P359S|NM_001198615,p.P322S|ENST00000354570,p.P337S|uc010kgq.2,p.P243S|uc011edh.2,p.P322S|NM_001198619,p.P191S|NM_001198609,p.P367S|ENST00000454590,p.P359S|NM_001198617,p.P243S|NM_001198616,p.P300S|NM_001198614,p.P359S|uc011edi.2,p.P191S|uc010kgr.2,p.P191S|NM_001198608,p.P359S|NM_003980,p.P337S|uc003qha.2,p.P300S|uc011edg.2,p.P367S|uc010kgs.3,p.P191S|uc003qgz.3,p.P337S|NM_001198618,p.P191S|ENST00000432797,p.P191S|uc011edf.2,p.P322S|uc010kgu.3,p.P359S|NM_001198611,p.P322S|ENST00000438100,p.P322S protein_coding uc011edi.2 nonsynonymous SNV exon10 c.C571T p.P191S ARSRLWLPSKSLPHLPGTPRPTSSL ARSRLWLPSKSLSHLPGTPRPTSSL 3.0 7.0 - - 4155_6:136687137-136687137 G>A_ARSRLWLPSKSLSHLPGTPRPTSSL 0.0 11:113264247-113264247 A>C 1.0 4245 COLORECTAL - - - - ANKK1 ENST00000303941,p.K77T|uc001pny.3,p.K77T|NM_178510,p.K77T protein_coding, nonsense_mediated_decay uc001pny.3 nonsynonymous SNV exon2 c.A230C p.K77T VNYLIEEAAKMKKIKFQHIVSIYGV VNYLIEEAAKMKTIKFQHIVSIYGV 3.0 2.0 - - 4245_11:113264247-113264247 A>C_VNYLIEEAAKMKTIKFQHIVSIYGV 0.0 15:55839065-55839065 C>T 0.0 4329 COLORECTAL - - - - PYGO1 ENST00000563719,p.G139D|NM_015617,p.G139D|uc002adf.1,p.G139D|uc010bfl.1,p.G139D|ENST00000302000,p.G139D protein_coding uc010bfl.1 nonsynonymous SNV exon3 c.G416A p.G139D QPHPFPQNPLGMGFNRPHAFNFGPH QPHPFPQNPLGMDFNRPHAFNFGPH 2.0 7.0 - - 4329_15:55839065-55839065 C>T_QPHPFPQNPLGMDFNRPHAFNFGPH 0.0 3:45812818-45812818 C>T 1.0 4196 COLORECTAL - - ID=COSM189397,COSM189398;OCCURENCE=1(central_nervous_system),1(large_intestine) - SLC6A20 ENST00000358525,p.A276T|NM_020208,p.A276T|uc011baj.2,p.A239T|uc011bai.2,p.A276T|ENST00000353278,p.A239T|NM_022405,p.A239T|ENST00000413781,p.A229T|ENST00000456124,p.A276T retained_intron, protein_coding, processed_transcript uc011baj.2 nonsynonymous SNV exon5 c.G715A p.A239T SYNEPSNNCQKHAIIVSLINSFTSI SYNEPSNNCQKHTIIVSLINSFTSI 8.0 8.0 - - 4196_3:45812818-45812818 C>T_SYNEPSNNCQKHTIIVSLINSFTSI 0.0 X:135498630-135498630 C>T 0.0 3998 MELANOMA - - - - GPR112 ENST00000394143,p.P3075S|ENST00000412101,p.P2870S|ENST00000370652,p.P3075S|NM_153834,p.P3075S|uc004ezu.1,p.P3075S|ENST00000394141,p.P2870S|uc010nsb.1,p.P2870S protein_coding uc010nsb.1 nonsynonymous SNV exon23 c.C8608T p.P2870S EISFPNDDFDKDPYCSSP EISFPNDDFDKDSYCSSP 1.0 10.0 - - 3998_X:135498630-135498630 C>T_EISFPNDDFDKDSYCSSP 0.0 22:26868361-26868361 G>T 1.0 3775 CERVICAL - - - - HPS4 uc003aci.4,p.S131R|ENST00000398141,p.S131R|uc010gvd.2,p.S136R|ENST00000439453,p.S136R|NM_022081,p.S136R|ENST00000402105,p.S131R|uc003acl.4,p.S136R|ENST00000464362,p.S131R|ENST00000336873,p.S136R|NM_152841,p.S131R|ENST00000429411,p.S131R|ENST00000398145,p.S136R|ENST00000422379,p.S136R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010gvd.2 nonsynonymous SNV exon6 c.C408A p.S136R SLAYENCSQEELSTEWDTFIEQILK SLAYENCSQEELRTEWDTFIEQILK 9.0 8.0 - - 3775_22:26868361-26868361 G>T_SLAYENCSQEELRTEWDTFIEQILK 0.0 2:85012801-85012801 C>T 0.0 4155 MELANOMA - - - - DNAH6 ENST00000237449,p.S3674L|NM_001370,p.S3674L|uc010fgb.3,p.S3674L|uc002sot.3,p.S433L|ENST00000389394,p.S3674L retained_intron, protein_coding, processed_transcript uc010fgb.3 nonsynonymous SNV exon67 c.C11021T p.S3674L ANIRRAFTEMTPSFFEENILGKKWR ANIRRAFTEMTPLFFEENILGKKWR 3.0 8.0 - - 4155_2:85012801-85012801 C>T_ANIRRAFTEMTPLFFEENILGKKWR 0.0 3:130799378-130799378 C>G 1.0 4078 GASTRIC - - - - NEK11 ENST00000429253,p.F94L|uc003eoa.3,p.F94L|ENST00000511262,p.F94L|uc003enw.1,p.F94L|ENST00000510769,p.F94L|uc011blm.2,p.F94L|uc003enx.3,p.F94L|ENST00000514915,p.F94L|NM_024800,p.F94L|NM_145910,p.F94L|ENST00000510688,p.F94L|ENST00000508196,p.F94L|ENST00000383366,p.F94L|uc011bll.2,p.F94L|ENST00000356918,p.F94L|ENST00000507910,p.F94L|NM_001146003,p.F94L|uc003eny.3,p.F94L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011blm.2 nonsynonymous SNV exon3 c.C282G p.F94L LLSKLDHPAIVKFHASFVEQDNFCI LLSKLDHPAIVKLHASFVEQDNFCI 5.0 3.0 - - 4078_3:130799378-130799378 C>G_LLSKLDHPAIVKLHASFVEQDNFCI 0.0 15:36936509-36936509 C>A 1.0 4266 COLORECTAL - - - - C15orf41 uc001zje.4,p.F44L|ENST00000437989,p.F44L|NM_001290233,p.F44L|ENST00000566621,p.F44L|ENST00000569302,p.F44L|NM_001130010,p.F44L retained_intron, protein_coding, processed_transcript uc001zje.4 nonsynonymous SNV exon2 c.C132A p.F44L FPSQSQATLLSIFSQEYQKHIKRTH FPSQSQATLLSILSQEYQKHIKRTH 5.0 2.0 - - 4266_15:36936509-36936509 C>A_FPSQSQATLLSILSQEYQKHIKRTH 0.0 X:109931893-109931893 C>T 0.0 3998 MELANOMA - - - - CHRDL1 uc010nps.3,p.R305Q|NM_001143981,p.R306Q|ENST00000372042,p.R306Q|NM_145234,p.R305Q|ENST00000394797,p.R305Q|ENST00000372045,p.R299Q|ENST00000444321,p.R305Q|ENST00000434224,p.R226Q|uc004eow.3,p.R305Q|uc011mss.2,p.R226Q|uc004eou.4,p.R306Q|uc004eov.3,p.R300Q|NM_001143983,p.R226Q|ENST00000482160,p.R226Q|ENST00000218054,p.R305Q|NM_001143982,p.R305Q protein_coding uc011mss.2 nonsynonymous SNV exon7 c.G677A p.R226Q TKQECKKIHCPNRYPCKYPQKIDGK TKQECKKIHCPNQYPCKYPQKIDGK 1.0 10.0 - - 3998_X:109931893-109931893 C>T_TKQECKKIHCPNQYPCKYPQKIDGK 0.0 10:13337502-13337502 C>T 1.0 4335 COLORECTAL - - - - PHYH NM_006214,p.R80H|ENST00000396920,p.R61H|ENST00000263038,p.R80H|uc001imf.3,p.R80H|ENST00000479604,p.R80H retained_intron, protein_coding uc001imf.3 nonsynonymous SNV exon3 c.G239A p.R80H VIKNLVPDADIQRFRNEFEKICRKE VIKNLVPDADIQHFRNEFEKICRKE 8.0 7.0 - - 4335_10:13337502-13337502 C>T_VIKNLVPDADIQHFRNEFEKICRKE 0.0 2:145155967-145155967 C>T 0.0 4134 NSCLC - - - - ZEB2 ENST00000558170,p.M929I|ENST00000409487,p.M929I|uc010zbm.2,p.M905I|ENST00000303660,p.M929I|ENST00000539609,p.M905I|uc010fnq.1,p.M958I|uc002tvv.3,p.M923I|NM_014795,p.M929I|NM_001171653,p.M905I|uc002tvu.3,p.M929I retained_intron, protein_coding, processed_transcript uc010zbm.2 nonsynonymous SNV exon7 c.G2715A p.M905I IPGLRPYPGLDQMSFLPHMAYTYPT IPGLRPYPGLDQISFLPHMAYTYPT 7.0 3.0 - - 4134_2:145155967-145155967 C>T_IPGLRPYPGLDQISFLPHMAYTYPT 0.0 3:185195115-185195115 G>C 1.0 3713 MELANOMA - - - 1 MAP3K13 uc010hyg.3,p.S501T|NM_001242314,p.S811T|NM_004721,p.S811T|uc010hyf.3,p.S811T|ENST00000443863,p.S667T|ENST00000535426,p.S667T|ENST00000265026,p.S811T|ENST00000424227,p.S811T|uc011brt.2,p.S604T|ENST00000446828,p.S604T|uc003fpi.3,p.S811T|NM_001242317,p.S604T|uc011bru.2,p.S667T retained_intron, protein_coding, nonsense_mediated_decay uc011bru.2 nonsynonymous SNV exon12 c.G2000C p.S667T PALPRKTRPLQKSGDDSSEEEEGEV PALPRKTRPLQKTGDDSSEEEEGEV 9.0 7.0 - - 3713_3:185195115-185195115 G>C_PALPRKTRPLQKTGDDSSEEEEGEV 0.0 7:140285423-140285423 G>A 1.0 3713 MELANOMA - - - - DENND2A ENST00000461883,p.S404F|uc010lnj.3,p.S404F|uc003vvw.3,p.S404F|ENST00000537639,p.S404F|uc003vvx.3,p.S404F|ENST00000275884,p.S404F|ENST00000492720,p.S404F|uc010lnk.3,p.S404F|ENST00000475837,p.S27F|ENST00000496613,p.S404F|NM_015689,p.S404F protein_coding, nonsense_mediated_decay uc010lnk.3 nonsynonymous SNV exon5 c.C1211T p.S404F CLGKKCVLNFPASPTSSIPDTLTKQ CLGKKCVLNFPAFPTSSIPDTLTKQ 4.0 5.0 - - 3713_7:140285423-140285423 G>A_CLGKKCVLNFPAFPTSSIPDTLTKQ 0.0 2:96690298-96690298 C>T 0.0 4316 COLORECTAL - - - - GPAT2 uc002svg.3,p.V395M|ENST00000359548,p.V516M|uc002sve.3,p.V318M|ENST00000453542,p.V445M|NM_207328,p.V516M|uc010yuh.2,p.V445M|ENST00000434632,p.V516M|uc002svh.3,p.V516M|ENST00000377137,p.V516M|uc002svf.3,p.V516M|uc002svd.3,p.V335M retained_intron, protein_coding, processed_transcript uc010yuh.2 nonsynonymous SNV exon14 c.G1333A p.V445M LLQHSLSLLRAHVALLRIRQGDLLV LLQHSLSLLRAHMALLRIRQGDLLV 2.0 8.0 - - 4316_2:96690298-96690298 C>T_LLQHSLSLLRAHMALLRIRQGDLLV 0.0 14:36041924-36041924 A>C 0.0 4317 COLORECTAL - - - - RALGAPA1 ENST00000258840,p.L1945V|NM_001283043,p.L1911V|ENST00000389698,p.L1898V|ENST00000553892,p.L1945V|NM_194301,p.L1898V|uc001wti.3,p.L1898V|NM_014990,p.L1898V|ENST00000382366,p.L1911V|NM_001283044,p.L1945V|ENST00000307138,p.L1898V|uc010tpw.1,p.L1945V|uc010tpv.2,p.L1911V|ENST00000554259,p.L536V|uc001wtj.3,p.L1898V retained_intron, protein_coding, processed_transcript uc010tpw.1 nonsynonymous SNV exon38 c.T5833G p.L1945V MPSDSDDSLTKKLRHLGNDEVHIVW MPSDSDDSLTKKVRHLGNDEVHIVW 8.0 2.0 - - 4317_14:36041924-36041924 A>C_MPSDSDDSLTKKVRHLGNDEVHIVW 0.0 6:152265335-152265335 G>C 0.0 4186 BREAST - - - 1 ESR1 NM_001122740,p.R263T|uc003qom.4,p.R263T|NM_001122742,p.R263T|uc010kio.3,p.R265T|uc011eex.2,p.R44T|uc003qoo.4,p.R263T|ENST00000440973,p.R263T|uc010kin.3,p.R263T|ENST00000338799,p.R263T|ENST00000544394,p.R90T|ENST00000206249,p.R263T|uc003qon.4,p.R263T|NM_001122741,p.R263T|NM_000125,p.R263T|ENST00000443427,p.R263T|NM_001291230,p.R265T protein_coding, processed_transcript uc011eex.2 nonsynonymous SNV exon2 c.G131C p.R44T MKGGIRKDRRGGRMLKHKRQRDDGE MKGGIRKDRRGGTMLKHKRQRDDGE 3.0 9.0 - - 4186_6:152265335-152265335 G>C_MKGGIRKDRRGGTMLKHKRQRDDGE 0.0 12:420076-420076 T>G 1.0 4335 COLORECTAL - - - 1 KDM5A uc010sdn.1,p.K1023T|NM_001042603,p.K1064T|uc001qif.1,p.K1064T|ENST00000382815,p.K1064T|ENST00000399788,p.K1064T|ENST00000544760,p.K683T retained_intron, protein_coding, processed_transcript uc010sdn.1 nonsynonymous SNV exon20 c.A3068C p.K1023T AWRERTGRTFLKKNSSHTLLQVLSP AWRERTGRTFLKTNSSHTLLQVLSP 9.0 2.0 - - 4335_12:420076-420076 T>G_AWRERTGRTFLKTNSSHTLLQVLSP 0.0 4:6865157-6865157 C>G 0.0 3775 CERVICAL - - - - KIAA0232 NM_014743,p.I1016M|ENST00000307659,p.I1016M|NM_001100590,p.I1016M|ENST00000425103,p.I1016M|uc003gjr.4,p.I1016M|uc003gjq.4,p.I1016M protein_coding, processed_transcript uc003gjr.4 nonsynonymous SNV exon7 c.C3048G p.I1016M SGENGLNKGFSFIFHEDLLGACGNF SGENGLNKGFSFMFHEDLLGACGNF 6.0 3.0 - - 3775_4:6865157-6865157 C>G_SGENGLNKGFSFMFHEDLLGACGNF 0.0 X:102318048-102318048 C>T 0.0 4235 COLORECTAL - - - - BEX1 uc004ejt.1,p.R52Q|NM_018476,p.R52Q|ENST00000372728,p.R52Q|uc022cbj.1,p.R52Q protein_coding uc022cbj.1 nonsynonymous SNV exon1 c.G155A p.R52Q AGEYCVPRGNRRRFRVRQPILQYRW AGEYCVPRGNRRQFRVRQPILQYRW 2.0 9.0 - - 4235_X:102318048-102318048 C>T_AGEYCVPRGNRRQFRVRQPILQYRW 0.0 4:134084204-134084204 C>A 0.0 4110 BILE DUCT - - - - PCDH10 NM_032961,p.S957Y|uc003iha.3,p.S957Y|ENST00000264360,p.S957Y retained_intron, protein_coding uc003iha.3 nonsynonymous SNV exon4 c.C2870A p.S957Y KALGHSDRCWMPSFVPSDGRQAADY KALGHSDRCWMPYFVPSDGRQAADY 1.0 9.0 - - 4110_4:134084204-134084204 C>A_KALGHSDRCWMPYFVPSDGRQAADY 0.0 12:53242482-53242482 C>T 0.0 4284 COLORECTAL - - - - KRT78 ENST00000304620,p.C78Y|NM_173352,p.C78Y|uc001sbc.1,p.C78Y retained_intron, protein_coding uc001sbc.1 nonsynonymous SNV exon1 c.G233A p.C78Y FGEWSGGPGLSLCPPGGIQEVTINQ FGEWSGGPGLSLYPPGGIQEVTINQ 1.0 4.0 - - 4284_12:53242482-53242482 C>T_FGEWSGGPGLSLYPPGGIQEVTINQ 0.0 16:31437411-31437411 G>A 0.0 4189 MELANOMA - - - - ITGAD ENST00000389202,p.D1150N|uc010cap.1,p.D1151N|uc002ebv.1,p.D1150N|NM_005353,p.D1150N retained_intron, protein_coding uc010cap.1 nonsynonymous SNV exon30 c.G3451A p.D1151N DKPEDTATFSGDDFSCVAPNVPLS DKPEDTATFSGDNFSCVAPNVPLS 1.0 5.0 - - 4189_16:31437411-31437411 G>A_DKPEDTATFSGDNFSCVAPNVPLS 0.0 19:5208383-5208383 A>T 0.0 4245 COLORECTAL - - - - PTPRS ENST00000588012,p.V1798D|ENST00000372412,p.V1837D|ENST00000353284,p.V1389D|uc010xin.2,p.V1378D|NM_130853,p.V1389D|uc002mbx.3,p.V1393D|uc002mbw.3,p.V1798D|ENST00000592099,p.V1389D|NM_002850,p.V1836D|uc002mby.3,p.V1389D|uc002mbu.1,p.V1405D|ENST00000357368,p.V1836D|ENST00000262963,p.V1816D|uc002mbv.3,p.V1836D|ENST00000587303,p.V1836D|ENST00000348075,p.V1798D|NM_130855,p.V1393D|NM_130854,p.V1798D retained_intron, protein_coding, processed_transcript uc010xin.2 nonsynonymous SNV exon26 c.T4133A p.V1378D KVTDARDGQSRTVRQFQFTDWPEQG KVTDARDGQSRTDRQFQFTDWPEQG 5.0 7.0 - - 4245_19:5208383-5208383 A>T_KVTDARDGQSRTDRQFQFTDWPEQG 0.0 16:48230197-48230197 C>G 0.0 3775 CERVICAL - - - - ABCC11 uc002efh.1,p.E784Q|ENST00000356608,p.E784Q|uc002eff.1,p.E784Q|ENST00000394748,p.E784Q|uc002efg.1,p.E784Q|ENST00000394747,p.E784Q|NM_033151,p.E784Q|NM_032583,p.E784Q|NM_145186,p.E784Q|ENST00000353782,p.E784Q retained_intron, protein_coding, processed_transcript uc002efh.1 nonsynonymous SNV exon18 c.G2350C p.E784Q VPEHQLTQEEEMEEGSLSWRVYHHY VPEHQLTQEEEMQEGSLSWRVYHHY 2.0 10.0 - - 3775_16:48230197-48230197 C>G_VPEHQLTQEEEMQEGSLSWRVYHHY 0.0 2:7030312-7030312 C>A 1.0 4095 COLORECTAL - - - - RSAD2 ENST00000382040,p.F248L|NM_080657,p.F248L|uc002qyp.1,p.F248L|ENST00000541728,p.F141L retained_intron, protein_coding, processed_transcript uc002qyp.1 nonsynonymous SNV exon4 c.C744A p.F248L QIKALNPVRWKVFQCLLIEGENCGE QIKALNPVRWKVLQCLLIEGENCGE 8.0 9.0 - - 4095_2:7030312-7030312 C>A_QIKALNPVRWKVLQCLLIEGENCGE 0.0 7:45115547-45115547 C>G 1.0 3713 MELANOMA - - - - CCM2 NM_001167934,p.S351C|ENST00000258781,p.S409C|ENST00000475551,p.S403C|ENST00000474617,p.S312C|uc003tmp.3,p.S351C|uc003tms.3,p.S430C|NM_001029835,p.S430C|ENST00000544363,p.S318C|ENST00000541586,p.S351C|uc003tmr.3,p.S318C|ENST00000381112,p.S430C|NM_001167935,p.S318C|NM_031443,p.S409C|uc003tmo.3,p.S409C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003tms.3 nonsynonymous SNV exon10 c.C1289G p.S430C SSTTNGNRATGSSDDRSAPSEGDEW SSTTNGNRATGSCDDRSAPSEGDEW 8.0 6.0 - - 3713_7:45115547-45115547 C>G_SSTTNGNRATGSCDDRSAPSEGDEW 0.0 4:39863906-39863906 G>A, 4:39863926-39863926 T>A 1.0 3998 MELANOMA - - - - PDS5A uc003guv.4,p.H1007Y|ENST00000303538,p.H1007Y|NM_001100399,p.H1007Y retained_intron, protein_coding, nonsense_mediated_decay uc003guv.4 nonsynonymous SNV exon26 c.C3019T, c.A2999T p.Y1000F, p.H1007Y SLLPEYVVPYMIHLLAHDPDFTRSQ SLLPEFVVPYMIYLLAHDPDFTRSQ 9.0 8.0 CD8 snv,snv PR 3998_4:39863906-39863906 G>A, 4:39863926-39863926 T>A_SLLPEFVVPYMIYLLAHDPDFTRSQ 1.0 19:2227019-2227019 C>G 1.0 4252 COLORECTAL - - - - DOT1L NM_032482,p.S1500C|ENST00000446286,p.S35C|ENST00000398665,p.S1500C|uc002lvc.1,p.S794C|uc002lvb.4,p.S1500C|ENST00000457590,p.S380C retained_intron, protein_coding, processed_transcript uc002lvc.1 nonsynonymous SNV exon13 c.C2381G p.S794C VAGSSVLQSLFSSVPAAAGLVHVSS VAGSSVLQSLFSCVPAAAGLVHVSS 7.0 6.0 - - 4252_19:2227019-2227019 C>G_VAGSSVLQSLFSCVPAAAGLVHVSS 0.0 20:61511172-61511172 G>A 1.0 3713 MELANOMA - - - - DIDO1 uc002ydr.2,p.P2046S|ENST00000266070,p.P2046S|ENST00000395343,p.P2046S|uc002yds.2,p.P2046S|NM_033081,p.P2046S|NM_001193369,p.P2046S protein_coding uc002yds.2 nonsynonymous SNV exon16 c.C6136T p.P2046S PQHRKDRWEEAGPPSALSSSAPGQG PQHRKDRWEEAGSPSALSSSAPGQG 9.0 9.0 - - 3713_20:61511172-61511172 G>A_PQHRKDRWEEAGSPSALSSSAPGQG 0.0 17:48148792-48148792 G>C 1.0 3775 CERVICAL - - - - ITGA3 ENST00000320031,p.G290A|uc010dbm.3,p.G290A|ENST00000007722,p.G290A|NM_002204,p.G290A|ENST00000544892,p.G65A|NM_005501,p.G290A|uc010dbl.3,p.G290A retained_intron, protein_coding, nonsense_mediated_decay uc010dbm.3 nonsynonymous SNV exon6 c.G869C p.G290A MGAVFLLSQEAGGDLRRRQVLEGSQ MGAVFLLSQEAGADLRRRQVLEGSQ 8.0 6.0 - - 3775_17:48148792-48148792 G>C_MGAVFLLSQEAGADLRRRQVLEGSQ 0.0 7:42007382-42007382 G>A 0.0 4246 COLORECTAL - - - - GLI3 ENST00000395925,p.P748L|uc011kbh.2,p.P748L|uc011kbg.2,p.P689L|NM_000168,p.P748L retained_intron, protein_coding, processed_transcript uc011kbh.2 nonsynonymous SNV exon14 c.C2243T p.P748L GSIGDLSAIDETPIMDSTISTATTA GSIGDLSAIDETLIMDSTISTATTA 2.0 1.0 - - 4246_7:42007382-42007382 G>A_GSIGDLSAIDETLIMDSTISTATTA 0.0 4:108817031-108817031 G>A 0.0 2359 MELANOMA - - - - SGMS2 ENST00000394684,p.E108K|NM_001136258,p.E108K|NM_001136257,p.E108K|uc003hyn.3,p.E108K|NM_152621,p.E108K|uc003hyo.3,p.E108K|uc003hyl.4,p.E108K|ENST00000394686,p.E108K|ENST00000359079,p.E108K protein_coding, processed_transcript uc003hyo.3 nonsynonymous SNV exon2 c.G322A p.E108K MITVVHERVPPKELSPPLPDKFFDY MITVVHERVPPKKLSPPLPDKFFDY 5.0 5.0 - - 2359_4:108817031-108817031 G>A_MITVVHERVPPKKLSPPLPDKFFDY 0.0 2:136481699-136481699 C>T 1.0 3919 MELANOMA - - - - R3HDM1 uc002tup.3,p.P991L|ENST00000410054,p.P991L|uc002tuo.3,p.P1046L|NM_001282798,p.P1047L|uc010zbh.2,p.P794L|ENST00000409606,p.P1047L|NM_015361,p.P1046L|NM_001282799,p.P918L|ENST00000409478,p.P918L|ENST00000329971,p.P917L|uc010fni.3,p.P1045L|ENST00000264160,p.P1046L|NM_001282800,p.P991L retained_intron, protein_coding, processed_transcript uc010zbh.2 nonsynonymous SNV exon18 c.C2381T p.P794L SGDNTANPERSKPSDLASTYTVLAT SGDNTANPERSKLSDLASTYTVLAT 8.0 4.0 - - 3919_2:136481699-136481699 C>T_SGDNTANPERSKLSDLASTYTVLAT 0.0 16:14859053-14859053 T>A 0.0 4316 COLORECTAL - - - - NPIPA2,NPIPA3 NM_001277324,p.L279Q|uc002dct.4,p.L279Q|ENST00000529166,p.L298Q|ENST00000553201,p.L279Q|NM_001277323,p.L279Q protein_coding uc002dct.4 nonsynonymous SNV exon8 c.T836A p.L279Q PECLLTPLPPSALPSADDNLKTPAE PECLLTPLPPSAQPSADDNLKTPAE 10.0 4.0 - - 4316_16:14859053-14859053 T>A_PECLLTPLPPSAQPSADDNLKTPAE 0.0 19:33792530-33792530 C>T 0.0 3903 MELANOMA - - - 1 CEBPA uc002nun.3,p.R264H|NM_001287435,p.R250H|ENST00000498907,p.R264H|NM_004364,p.R264H|NM_001287424,p.R299H|NM_001285829,p.R145H protein_coding uc002nun.3 nonsynonymous SNV exon1 c.G791A p.R264H ALKGLGAAHPDLRASGGSGAGKAKK ALKGLGAAHPDLHASGGSGAGKAKK 5.0 4.0 - - 3903_19:33792530-33792530 C>T_ALKGLGAAHPDLHASGGSGAGKAKK 0.0 2:183053753-183053753 G>A 1.0 3903 MELANOMA - - - - PDE1A NM_001258313,p.S387F|ENST00000331935,p.S403F|ENST00000456212,p.S403F|NM_005019,p.S403F|ENST00000409365,p.S387F|ENST00000536095,p.S299F|ENST00000351439,p.S387F|ENST00000358139,p.S403F|uc010zfq.2,p.S407F|NM_001258314,p.S369F|uc002uou.4,p.S369F|ENST00000435564,p.S403F|ENST00000410103,p.S403F|NM_001003683,p.S403F|uc002uor.4,p.S387F|uc002uos.4,p.S403F|uc002uoq.2,p.S403F|NM_001258312,p.S407F|ENST00000346717,p.S369F|uc010zfp.2,p.S299F protein_coding, processed_transcript uc010zfq.2 nonsynonymous SNV exon12 c.C1220T p.S407F QGDKEAELGLPFSPLCDRKSTMVAQ QGDKEAELGLPFFPLCDRKSTMVAQ 7.0 4.0 - - 3903_2:183053753-183053753 G>A_QGDKEAELGLPFFPLCDRKSTMVAQ 0.0 18:12449710-12449710 G>A 1.0 4259 COLORECTAL - - ID=COSM285325,COSM285324;OCCURENCE=1(large_intestine) - SPIRE1 ENST00000409402,p.T733M|ENST00000453447,p.T599M|uc010wzw.2,p.T599M|uc010wzx.2,p.T522M|NM_001128626,p.T733M|uc010wzy.2,p.T719M|NM_020148,p.T719M|NM_001128627,p.T599M|uc002kre.3,p.T733M|ENST00000309836,p.T522M|ENST00000410092,p.T719M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wzy.2 nonsynonymous SNV exon16 c.C2156T p.T719M VLANKRARLKRKTQSFYMSSPGPSE VLANKRARLKRKMQSFYMSSPGPSE 7.0 10.0 - - 4259_18:12449710-12449710 G>A_VLANKRARLKRKMQSFYMSSPGPSE 0.0 2:74884745-74884745 G>T 1.0 4252 COLORECTAL - - - - SEMA4F ENST00000339773,p.K117N|NM_001271661,p.K117N|uc002snc.2,p.K117N|ENST00000453930,p.K117N protein_coding, processed_transcript, nonsense_mediated_decay uc002snc.2 nonsynonymous SNV exon3 c.G351T p.K117N PEAHRQNCRKKGKKEGDLGGRKTLQ PEAHRQNCRKKGNKEGDLGGRKTLQ 6.0 7.0 - - 4252_2:74884745-74884745 G>T_PEAHRQNCRKKGNKEGDLGGRKTLQ 0.0 16:1840750-1840750 C>T 1.0 4258 ENDOMETRIAL - - - - IGFALS NM_001146006,p.A595T|uc010uvn.2,p.A595T|ENST00000415638,p.A595T|uc010uvo.2,p.A191T|uc002cmy.3,p.A557T|ENST00000215539,p.A557T|NM_004970,p.A557T protein_coding uc010uvo.2 nonsynonymous SNV exon2 c.G571A p.A191T KALRDFALQNPSAVPRFVQAICEGD KALRDFALQNPSTVPRFVQAICEGD 4.0 8.0 - - 4258_16:1840750-1840750 C>T_KALRDFALQNPSTVPRFVQAICEGD 0.0 13:92345524-92345524 G>A 0.0 3903 MELANOMA - - - - GPC5 NM_004466,p.A137T|uc010tif.2,p.A137T|ENST00000377067,p.A137T protein_coding, processed_transcript uc010tif.2 nonsynonymous SNV exon3 c.G409A p.A137T LFCSTYRNMALEAAASVQEFFTDVG LFCSTYRNMALETAASVQEFFTDVG 1.0 7.0 - - 3903_13:92345524-92345524 G>A_LFCSTYRNMALETAASVQEFFTDVG 0.0 6:30154120-30154120 C>G 1.0 4317 COLORECTAL - - - - TRIM26 ENST00000454678,p.E385Q|uc003npr.3,p.E385Q|uc003npt.3,p.E385Q|uc003nps.3,p.E385Q|ENST00000437089,p.E385Q|uc010jry.3,p.E115Q|NM_001242783,p.E385Q|ENST00000453195,p.E385Q|NM_003449,p.E385Q retained_intron, protein_coding, processed_transcript uc010jry.3 nonsynonymous SNV exon9 c.G343C p.E115Q EVEREGWSEDEEEGDEEEEGEEEEE EVEREGWSEDEEQGDEEEEGEEEEE 8.0 2.0 - - 4317_6:30154120-30154120 C>G_EVEREGWSEDEEQGDEEEEGEEEEE 0.0 12:51685901-51685901 G>A 0.0 3795 MELANOMA - - - - BIN2 ENST00000604560,p.S303F|uc010sng.2,p.S304F|NM_001290008,p.S330F|uc009zlz.3,p.S298F|ENST00000267012,p.S330F|NM_016293,p.S362F|uc001ryg.3,p.S330F|NM_001290009,p.S206F|NM_001290007,p.S304F|ENST00000544402,p.S304F|uc001ryh.3,p.S206F|ENST00000452142,p.S298F protein_coding uc010sng.2 nonsynonymous SNV exon10 c.C911T p.S304F EEEIEKEGSEASSSEEDEPLPACNG EEEIEKEGSEASFSEEDEPLPACNG 5.0 10.0 - - 3795_12:51685901-51685901 G>A_EEEIEKEGSEASFSEEDEPLPACNG 0.0 2:127808392-127808392 C>T 0.0 4155 MELANOMA - - - - BIN1 uc010yzg.2,p.G397S|NM_139344,p.G477S|uc002tnx.2,p.G381S|NM_139346,p.G424S|NM_139348,p.G409S|uc002tns.2,p.G520S|uc002tnt.2,p.G336S|NM_139349,p.G402S|uc002tny.2,p.G433S|NM_139350,p.G366S|ENST00000346226,p.G445S|ENST00000259238,p.G424S|NM_139351,p.G336S|ENST00000376113,p.G351S|uc002toa.2,p.G409S|ENST00000393041,p.G402S|uc002tob.2,p.G366S|NM_139347,p.G445S|NM_139345,p.G433S|uc002tnv.2,p.G477S|ENST00000393040,p.G409S|uc002tnz.2,p.G445S|ENST00000352848,p.G381S|ENST00000351659,p.G433S|ENST00000316724,p.G520S|ENST00000409400,p.G366S|NM_004305,p.G381S|uc002tnw.2,p.G424S|uc010yzf.2,p.G312S|uc002toc.2,p.G402S|uc002tnu.2,p.G351S|NM_139343,p.G520S|ENST00000348750,p.G336S|ENST00000357970,p.G477S retained_intron, protein_coding, processed_transcript uc010yzg.2 nonsynonymous SNV exon13 c.G1189A p.G397S GGSGAGRLDLPPGFMFKVQAQHDYT GGSGAGRLDLPPSFMFKVQAQHDYT 6.0 5.0 - - 4155_2:127808392-127808392 C>T_GGSGAGRLDLPPSFMFKVQAQHDYT 0.0 21:47850508-47850508 C>A 1.0 4158 COLORECTAL - - - - PCNT NM_006031,p.S2667R|ENST00000359568,p.S2667R|uc002zji.4,p.S2667R|uc002zjj.3,p.S2549R retained_intron, protein_coding, processed_transcript uc002zjj.3 nonsynonymous SNV exon37 c.C7647A p.S2549R LESEQGKGRALQSQLEEEQLRHLQR LESEQGKGRALQRQLEEEQLRHLQR 6.0 3.0 - - 4158_21:47850508-47850508 C>A_LESEQGKGRALQRQLEEEQLRHLQR 0.0 19:3959233-3959233 G>A 0.0 4235 COLORECTAL - - - - DAPK3 ENST00000301264,p.R411C|NM_001348,p.R411C|uc002lzd.1,p.R411C|uc002lzb.1,p.R148C|uc002lzc.1,p.R411C|ENST00000545797,p.R411C retained_intron, protein_coding uc002lzd.1 nonsynonymous SNV exon9 c.C1231T p.R411C AKGALLGTSGLKRRFSRLENRYEAL AKGALLGTSGLKCRFSRLENRYEAL 9.0 4.0 - - 4235_19:3959233-3959233 G>A_AKGALLGTSGLKCRFSRLENRYEAL 0.0 7:24747822-24747822 G>A 0.0 3713 MELANOMA - - - - DFNA5 ENST00000419307,p.P141L|NM_004403,p.P305L|ENST00000409970,p.P141L|ENST00000409775,p.P305L|NM_001127453,p.P305L|ENST00000342947,p.P305L|NM_001127454,p.P141L|ENST00000545231,p.P141L|uc003sxa.1,p.P305L|uc010kus.1,p.P305L|uc010kut.1,p.P141L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010kut.1 nonsynonymous SNV exon6 c.C422T p.P141L ERNFHPFAELPEPQQTALSDIFQAV ERNFHPFAELPELQQTALSDIFQAV 5.0 9.0 - - 3713_7:24747822-24747822 G>A_ERNFHPFAELPELQQTALSDIFQAV 0.0 X:40526037-40526037 G>A 1.0 4000 MELANOMA - - - - MED14 NM_004229,p.P1067L|uc004dex.4,p.P1067L|ENST00000324817,p.P1067L protein_coding, processed_transcript uc004dex.4 nonsynonymous SNV exon24 c.C3200T p.P1067L GALRAPSPASFVPTPPPSSHGISIG GALRAPSPASFVLTPPPSSHGISIG 10.0 10.0 - - 4000_X:40526037-40526037 G>A_GALRAPSPASFVLTPPPSSHGISIG 0.0 3:49720513-49720513 G>A 1.0 4345 COLORECTAL - - - - APEH NM_001640,p.R676Q|ENST00000296456,p.R676Q|uc010hkw.1,p.R681Q|uc003cxf.3,p.R676Q|ENST00000438011,p.R681Q retained_intron, protein_coding, nonsense_mediated_decay uc010hkw.1 nonsynonymous SNV exon21 c.G2042A p.R681Q KTPLLLMLGQEDRRVPFKQGMEYYR KTPLLLMLGQEDQRVPFKQGMEYYR 9.0 9.0 - - 4345_3:49720513-49720513 G>A_KTPLLLMLGQEDQRVPFKQGMEYYR 0.0 16:23490232-23490232 C>T 1.0 4213 COLORECTAL - - - - GGA2 NM_015044,p.G377E|ENST00000309859,p.G377E|uc002dlq.3,p.G377E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002dlq.3 nonsynonymous SNV exon12 c.G1130A p.G377E VPSLLHQDLAALGISDAPVTGMVSG VPSLLHQDLAALEISDAPVTGMVSG 10.0 4.0 - - 4213_16:23490232-23490232 C>T_VPSLLHQDLAALEISDAPVTGMVSG 0.0 12:22487096-22487096 G>- 0.0 4252 COLORECTAL - - - - ST8SIA1 uc001rfo.4,p.P24fs|ENST00000396037,p.P24fs|ENST00000261197,p.P24fs|NM_003034,p.P24fs protein_coding, processed_transcript, nonsense_mediated_decay uc001rfo.4 frameshift deletion exon1 c.71delC p.P24fs SRGAMAVLAWKFPRTRLPMGASALC SRGAMAVLAWKFRGPGCPWEPVPSVSWSSVGSTSSPSTGCPTRKRSCRGCCNRARRGGGTRPRPERSGNKWKTAATLPISLL 5.0 8.0 - - 4252_12:22487096-22487096 G>-_SRGAMAVLAWKFRGPGCPWEPVPSVSWSSVGSTSSPSTGCPTRKRSCRGCCNRARRGGGTRPRPERSGNKWKTAATLPISLL 0.0 14:105169711-105169711 C>T 1.0 3784 MELANOMA - - - - INF2 NM_001031714,p.T196I|ENST00000392634,p.T196I|uc001ypc.2,p.T196I|NM_022489,p.T196I|uc001ypb.2,p.T196I|uc001yoy.4,p.T196I|ENST00000398337,p.T196I|NM_032714,p.T196I|ENST00000330634,p.T196I retained_intron, protein_coding, nonsense_mediated_decay uc001ypc.2 nonsynonymous SNV exon4 c.C587T p.T196I ELSGSDNVPYVVTLLSVINAVILGP ELSGSDNVPYVVILLSVINAVILGP 9.0 6.0 - - 3784_14:105169711-105169711 C>T_ELSGSDNVPYVVILLSVINAVILGP 0.0 1:46032674-46032674 A>C 1.0 4000 MELANOMA - - - - AKR1A1 uc001coe.3,p.H113P|NM_001202414,p.H113P|NM_001202413,p.H113P|ENST00000372070,p.H113P|ENST00000351829,p.H113P|NM_153326,p.H113P|uc021omx.1,p.H113P|uc021omy.1,p.H113P|NM_006066,p.H113P|ENST00000434299,p.H113P|uc001cod.3,p.H113P protein_coding, processed_transcript uc021omy.1 nonsynonymous SNV exon5 c.A338C p.H113P DLQLEYLDLYLMHWPYAFERGDNPF DLQLEYLDLYLMPWPYAFERGDNPF 10.0 5.0 - - 4000_1:46032674-46032674 A>C_DLQLEYLDLYLMPWPYAFERGDNPF 0.0 4:39465195-39465195 A>G 0.0 4345 COLORECTAL - - - - LIAS NM_001278592,p.E90G|uc011bym.2,p.E90G retained_intron, protein_coding, processed_transcript uc011bym.2 nonsynonymous SNV exon3 c.A269G p.E90G LDVPILESVGEVENMPPPQPRSW LDVPILESVGEVGNMPPPQPRSW 7.0 4.0 - - 4345_4:39465195-39465195 A>G_LDVPILESVGEVGNMPPPQPRSW 0.0 15:24921084-24921084 G>A 0.0 4196 COLORECTAL - - - - NPAP1 ENST00000329468,p.A24T|NM_018958,p.A24T|uc001ywo.3,p.A24T protein_coding uc001ywo.3 nonsynonymous SNV exon1 c.G70A p.A24T CRRRPLPGPGRGAPAPLSRDASPPG CRRRPLPGPGRGTPAPLSRDASPPG 3.0 8.0 - - 4196_15:24921084-24921084 G>A_CRRRPLPGPGRGTPAPLSRDASPPG 0.0 19:50912441-50912441 G>A 1.0 4160 COLORECTAL - - - 1 POLD1 uc002psc.5,p.R652Q|ENST00000599857,p.R652Q|ENST00000600859,p.R652Q|ENST00000440232,p.R652Q|uc010eny.4,p.R678Q|ENST00000595904,p.R678Q|uc002psb.5,p.R652Q|NM_002691,p.R652Q|NM_001256849,p.R652Q retained_intron, protein_coding, nonsense_mediated_decay uc010eny.4 nonsynonymous SNV exon15 c.G2033A p.R678Q TPTGDEFVKTSVRKGLLPQILENLL TPTGDEFVKTSVQKGLLPQILENLL 9.0 7.0 - - 4160_19:50912441-50912441 G>A_TPTGDEFVKTSVQKGLLPQILENLL 0.0 3:126071131-126071131 G>A 0.0 4281 COLORECTAL - - - - KLF15 NM_014079,p.T212M|uc011bkk.1,p.T212M|ENST00000296233,p.T212M protein_coding, processed_transcript uc011bkk.1 nonsynonymous SNV exon2 c.C635T p.T212M SAGGAQGPGGGPTPDGPIPVLLQIQ SAGGAQGPGGGPMPDGPIPVLLQIQ 2.0 7.0 - - 4281_3:126071131-126071131 G>A_SAGGAQGPGGGPMPDGPIPVLLQIQ 0.0 3:20153134-20153134 C>T 1.0 3713 MELANOMA - - ID=COSM2948441;OCCURENCE=1(liver) - KAT2B ENST00000263754,p.R300W|NM_003884,p.R300W|uc003cbq.3,p.R300W retained_intron, protein_coding, processed_transcript uc003cbq.3 nonsynonymous SNV exon6 c.C898T p.R300W YCNVPQFCDSLPRYETTQVFGRTLL YCNVPQFCDSLPWYETTQVFGRTLL 9.0 7.0 - - 3713_3:20153134-20153134 C>T_YCNVPQFCDSLPWYETTQVFGRTLL 0.0 10:135352327-135352327 G>T 0.0 4284 COLORECTAL - - - - CYP2E1 uc001lnk.1,p.L310F|uc001lnj.1,p.L447F|ENST00000252945,p.L447F|NM_000773,p.L447F|uc009ybl.1,p.L248F|ENST00000463117,p.L447F|uc009ybm.1,p.L101F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009ybm.1 nonsynonymous SNV exon6 c.G303T p.L101F RVCAGEGLARMELFLLLCAILQHFN RVCAGEGLARMEFFLLLCAILQHFN 4.0 10.0 CD8 - 4284_10:135352327-135352327 G>T_RVCAGEGLARMEFFLLLCAILQHFN 1.0 1:181021388-181021388 G>A 1.0 4134 NSCLC - - - - MR1 ENST00000367579,p.V163I|NM_001194999,p.V163I|uc001goq.2,p.V208I|NM_001531,p.V208I|uc001gor.2,p.V163I|ENST00000367580,p.V208I retained_intron, protein_coding, processed_transcript uc001gor.2 nonsynonymous SNV exon5 c.G487A p.V163I DTLQRTEPPLVRVNRKETFPGVTAL DTLQRTEPPLVRINRKETFPGVTAL 6.0 10.0 - - 4134_1:181021388-181021388 G>A_DTLQRTEPPLVRINRKETFPGVTAL 0.0 11:101929624-101929624 A>T 1.0 4284 COLORECTAL - - - - C11orf70 ENST00000534360,p.D69V|ENST00000434758,p.D69V|NM_032930,p.D69V|NM_001195005,p.D69V|ENST00000526781,p.D69V|uc001pgp.3,p.D69V|uc001pgq.3,p.D31V|uc001pgo.3,p.D69V retained_intron, protein_coding uc001pgq.3 nonsynonymous SNV exon2 c.A92T p.D31V YRKDDFVMAFFKDPNVIPNLKLLSD YRKDDFVMAFFKVPNVIPNLKLLSD 5.0 4.0 - - 4284_11:101929624-101929624 A>T_YRKDDFVMAFFKVPNVIPNLKLLSD 0.0 3:100594412-100594412 C>T 0.0 4252 COLORECTAL - - - - ABI3BP ENST00000471714,p.V260I|ENST00000527258,p.V179I|uc003dun.3,p.V260I|NM_015429,p.V260I|ENST00000495063,p.V260I|ENST00000284322,p.V260I|uc003dup.4,p.V253I|uc003duo.2,p.V253I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003dup.4 nonsynonymous SNV exon8 c.G757A p.V253I IPITIIKQVIQNVTHKDSAKSPEKA IPITIIKQVIQNITHKDSAKSPEKA 6.0 9.0 - - 4252_3:100594412-100594412 C>T_IPITIIKQVIQNITHKDSAKSPEKA 0.0 4:145039891-145039891 G>T 0.0 4258 ENDOMETRIAL - - - - GYPA NM_002099,p.L83I|uc031shj.1,p.L83I|uc011cib.2,p.L50I|ENST00000535709,p.L57I|uc003ijo.4,p.L83I|ENST00000360771,p.L83I|ENST00000324022,p.L50I|uc031she.1,p.L50I retained_intron, protein_coding, nonsense_mediated_decay uc031shj.1 nonsynonymous SNV exon4 c.C247A p.L83I YPPEEETGERVQLAHHFSEPEITLI YPPEEETGERVQIAHHFSEPEITLI 1.0 9.0 - - 4258_4:145039891-145039891 G>T_YPPEEETGERVQIAHHFSEPEITLI 0.0 X:106228351-106228351 G>A 1.0 4134 NSCLC - - ID=COSM754723,COSM754722;OCCURENCE=1(lung) - MORC4 uc004emv.4,p.R217C|NM_001085354,p.R217C|NM_024657,p.R217C|ENST00000255495,p.R217C|ENST00000355610,p.R217C|uc004emu.4,p.R217C retained_intron, protein_coding uc004emv.4 nonsynonymous SNV exon5 c.C649T p.R217C AQFDAIPGKKGTRVLIWNIRRNKNG AQFDAIPGKKGTCVLIWNIRRNKNG 7.0 7.0 - - 4134_X:106228351-106228351 G>A_AQFDAIPGKKGTCVLIWNIRRNKNG 0.0 17:26851012-26851012 T>G 0.0 4258 ENDOMETRIAL - - - - FOXN1 NM_003593,p.S9A|ENST00000579795,p.S9A|uc002hbj.3,p.S9A|ENST00000226247,p.S9A|uc010crm.3,p.S9A|ENST00000577936,p.S9A protein_coding uc010crm.3 nonsynonymous SNV exon2 c.T25G p.S9A MVSLPPPQSDVTLPGPTRLEG MVSLPPPQADVTLPGPTRLEG 1.0 8.0 - - 4258_17:26851012-26851012 T>G_MVSLPPPQADVTLPGPTRLEG 0.0 12:63974550-63974550 A>G 0.0 4095 COLORECTAL - - - - DPY19L2 uc001srp.1,p.S598P|NM_173812,p.S598P|ENST00000413230,p.S45P|ENST00000324472,p.S598P|uc010sso.1,p.S45P retained_intron, protein_coding, nonsense_mediated_decay uc010sso.1 nonsynonymous SNV exon3 c.T133C p.S45P FEKVIFGILTVMSIQGYANLRNQWS FEKVIFGILTVMPIQGYANLRNQWS 4.0 7.0 - - 4095_12:63974550-63974550 A>G_FEKVIFGILTVMPIQGYANLRNQWS 0.0 22:38130881-38130881 C>T 0.0 4287 COLORECTAL - - - - TRIOBP ENST00000406386,p.T1513M|uc003atr.3,p.T1513M|uc003atu.3,p.T1341M|NM_001039141,p.T1513M retained_intron, protein_coding, nonsense_mediated_decay uc003atu.3 nonsynonymous SNV exon7 c.C4022T p.T1341M ELPRELGKRSPLTSPPENWGGPAES ELPRELGKRSPLMSPPENWGGPAES 9.0 9.0 - - 4287_22:38130881-38130881 C>T_ELPRELGKRSPLMSPPENWGGPAES 0.0 17:38547772-38547772 T>C 1.0 4180 BREAST - - - - TOP2A uc002huq.3,p.K1418R|NM_001067,p.K1418R|ENST00000423485,p.K1418R retained_intron, protein_coding uc002huq.3 nonsynonymous SNV exon33 c.A4253G p.K1418R TNPVPKKNVTVKKTAAKSQSSTSTT TNPVPKKNVTVKRTAAKSQSSTSTT 10.0 8.0 - - 4180_17:38547772-38547772 T>C_TNPVPKKNVTVKRTAAKSQSSTSTT 0.0 16:48230197-48230197 C>G 0.0 3775 CERVICAL - - - - ABCC11 ENST00000537808,p.W751C retained_intron, protein_coding, processed_transcript ENST00000537808 nonsynonymous SNV exon17 c.G2253C p.W751C SCRSISSHRRRRWKKAP SCRSISSHRRRRCKKAP 2.0 10.0 - - 3775_16:48230197-48230197 C>G_SCRSISSHRRRRCKKAP 0.0 X:63411110-63411110 G>A 0.0 3998 MELANOMA - - - 1 AMER1 ENST00000403336,p.P686L|ENST00000374869,p.P686L|ENST00000330258,p.P686L|uc022byb.1,p.P686L|uc004dvo.3,p.P686L|NM_152424,p.P686L protein_coding uc022byb.1 nonsynonymous SNV exon1 c.C2057T p.P686L SQISHRGITSAFPTTASSEPDWRDF SQISHRGITSAFLTTASSEPDWRDF 4.0 10.0 - - 3998_X:63411110-63411110 G>A_SQISHRGITSAFLTTASSEPDWRDF 0.0 19:11493888-11493888 C>A 1.0 4287 COLORECTAL - - - - EPOR ENST00000591958,p.G81W retained_intron, protein_coding, nonsense_mediated_decay ENST00000591958 nonsynonymous SNV exon3 c.G241T p.G81W VTAGDTALLAARGPEELLCFTERLE VTAGDTALLAARWPEELLCFTERLE 5.0 10.0 - - 4287_19:11493888-11493888 C>A_VTAGDTALLAARWPEELLCFTERLE 0.0 11:55658785-55658785 C>T 1.0 3784 MELANOMA - - ID=COSM1298151,COSM1298150;OCCURENCE=1(urinary_tract) - TRIM51 uc010riq.2,p.H203Y|ENST00000449290,p.H346Y|NM_032681,p.H346Y|uc010rip.2,p.H346Y|ENST00000244891,p.H203Y protein_coding uc010riq.2 nonsynonymous SNV exon5 c.C607T p.H203Y QAFTSGKYYWEVHMGDSWNWAFGVC QAFTSGKYYWEVYMGDSWNWAFGVC 4.0 9.0 - - 3784_11:55658785-55658785 C>T_QAFTSGKYYWEVYMGDSWNWAFGVC 0.0 5:140784024-140784024 C>T 1.0 4301 MELANOMA - - - - PCDHGA9 uc003lkh.2,p.S502F|uc011dax.2,p.S502F|NM_018921,p.S502F|NM_032089,p.S502F|ENST00000573521,p.S502F protein_coding uc011dax.2 nonsynonymous SNV exon1 c.C1505T p.S502F SLAEDTIQGSPLSTYVSINSDTGVL SLAEDTIQGSPLFTYVSINSDTGVL 6.0 6.0 - - 4301_5:140784024-140784024 C>T_SLAEDTIQGSPLFTYVSINSDTGVL 0.0 17:34340793-34340793 G>A 0.0 4266 COLORECTAL - - - - CCL23 uc002hks.1,p.P98L|NM_145898,p.P81L|NM_005064,p.P98L|ENST00000293280,p.P98L|uc002hkt.1,p.P81L|ENST00000591423,p.P81L protein_coding, nonsense_mediated_decay uc002hkt.1 nonsynonymous SNV exon3 c.C242T p.P81L ESYFETNSECSKPGVIFLTKKGRRF ESYFETNSECSKLGVIFLTKKGRRF 5.0 1.0 - - 4266_17:34340793-34340793 G>A_ESYFETNSECSKLGVIFLTKKGRRF 0.0 6:109258108-109258108 T>G 1.0 4287 COLORECTAL - - - - ARMC2 ENST00000368972,p.L336R|NM_032131,p.L501R|uc011eao.2,p.L336R|ENST00000392644,p.L501R|uc003pss.4,p.L501R|NM_001286609,p.L336R protein_coding, processed_transcript uc011eao.2 nonsynonymous SNV exon11 c.T1007G p.L336R DVCTNIARIFSKLTSYRDCCTALAS DVCTNIARIFSKRTSYRDCCTALAS 7.0 6.0 - - 4287_6:109258108-109258108 T>G_DVCTNIARIFSKRTSYRDCCTALAS 0.0 12:25398284-25398284 C>G 0.0 4235 COLORECTAL - - ID=COSM1140134,COSM522;OCCURENCE=3(upper_aerodigestive_tract),1(bone),1(oesophagus),25(stomach),6(central_nervous_system),1(thymus),4(cervix),1(testis),33(haematopoietic_and_lymphoid_tissue),1(gastrointestinal_tract_(site_indeterminate)),6(thyroid),1(peritoneum),290(lung),55(endometrium),35(ovary),3(soft_tissue),7(urinary_tract),1(liver),75(pancreas),2(prostate),29(biliary_tract),1086(large_intestine),1(skin),1(breast),9(small_intestine) 1 KRAS NM_004985,p.G12A|uc001rgq.1,p.G12A|NM_033360,p.G12A|uc001rgp.1,p.G12A|ENST00000556131,p.G12A|ENST00000256078,p.G12A|ENST00000557334,p.G12A|ENST00000311936,p.G12A protein_coding uc001rgq.1 nonsynonymous SNV exon2 c.G35C p.G12A MTEYKLVVVGAGGVGKSALTIQLI MTEYKLVVVGAAGVGKSALTIQLI 6.0 9.0 - - 4235_12:25398284-25398284 C>G_MTEYKLVVVGAAGVGKSALTIQLI 0.0 12:56522185-56522185 C>A 1.0 4317 COLORECTAL - - - - ESYT1 uc001sjr.3,p.P28T|ENST00000267113,p.P28T|NM_001184796,p.P28T|ENST00000394048,p.P28T|uc001sjq.3,p.P28T|ENST00000541590,p.P28T|NM_015292,p.P28T retained_intron, protein_coding, processed_transcript uc001sjr.3 nonsynonymous SNV exon1 c.C82A p.P28T QPSAPSDPTDQPPAAHAKPDPGSGG QPSAPSDPTDQPTAAHAKPDPGSGG 9.0 7.0 - - 4317_12:56522185-56522185 C>A_QPSAPSDPTDQPTAAHAKPDPGSGG 0.0 2:185801138-185801138 A>T 0.0 3919 MELANOMA - - - - ZNF804A NM_194250,p.S339C|ENST00000302277,p.S339C|uc002uph.3,p.S339C protein_coding uc002uph.3 nonsynonymous SNV exon4 c.A1015T p.S339C NSVPLADQIPLESVVINEDIPVSGN NSVPLADQIPLECVVINEDIPVSGN 1.0 1.0 - - 3919_2:185801138-185801138 A>T_NSVPLADQIPLECVVINEDIPVSGN 0.0 14:81743485-81743485 G>A 0.0 3998 MELANOMA - - - - STON2 ENST00000555447,p.P724S|uc001xvk.2,p.P724S|NM_001256430,p.P724S|ENST00000267540,p.P724S|uc010tvt.3,p.P521S|NM_033104,p.P724S|uc010tvu.3,p.P724S retained_intron, protein_coding, processed_transcript uc010tvu.3 nonsynonymous SNV exon5 c.C2170T p.P724S GFSANRDPLTQVPCENVMIRYPVPS GFSANRDPLTQVSCENVMIRYPVPS 6.0 10.0 - - 3998_14:81743485-81743485 G>A_GFSANRDPLTQVSCENVMIRYPVPS 0.0 6:166827413-166827413 C>T 1.0 4275 COLORECTAL - - - - RPS6KA2 ENST00000510118,p.V674M|ENST00000481261,p.V560M|NM_001006932,p.V657M|uc003qvc.1,p.V657M|ENST00000405189,p.V560M|ENST00000503859,p.V657M|uc003qvd.1,p.V674M|uc003qvb.1,p.V649M|uc011ego.1,p.V560M|uc010kkl.1,p.V560M|ENST00000265678,p.V649M|uc010kkk.1,p.V81M|NM_021135,p.V649M protein_coding, processed_transcript uc011ego.1 nonsynonymous SNV exon20 c.G1678A p.V560M NWDSISDAAKDVVSKMLHVDPHQRL NWDSISDAAKDVMSKMLHVDPHQRL 9.0 3.0 - - 4275_6:166827413-166827413 C>T_NWDSISDAAKDVMSKMLHVDPHQRL 0.0 8:145698736-145698736 C>T 1.0 4110 BILE DUCT - - - - KIFC2 uc003zda.3,p.A195V|NM_145754,p.A807V|uc003zcz.3,p.A807V|ENST00000301332,p.A807V retained_intron, protein_coding, processed_transcript uc003zda.3 nonsynonymous SNV exon1 c.C584T p.A195V AVLHAPVPTTARARLSRPQRACPSS AVLHAPVPTTARVRLSRPQRACPSS 6.0 10.0 - - 4110_8:145698736-145698736 C>T_AVLHAPVPTTARVRLSRPQRACPSS 0.0 7:100460306-100460306 C>T 1.0 3879 MELANOMA - - - - SLC12A9 NM_020246,p.S572F|uc031syn.1,p.S572F|uc011kki.2,p.S103F|NM_001267814,p.S483F|ENST00000415287,p.S483F|NM_001267812,p.S572F|ENST00000428758,p.S572F|ENST00000275729,p.S483F|ENST00000540482,p.S572F|uc003uws.3,p.S103F|uc003uwt.3,p.S308F|uc003uwv.3,p.S103F|uc003uwp.4,p.S572F|uc003uwr.3,p.S308F|uc003uwq.4,p.S483F|ENST00000354161,p.S572F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031syn.1 nonsynonymous SNV exon13 c.C1715T p.S572F YVLGHVTLGDLDSLPSDPVQPQYGA YVLGHVTLGDLDFLPSDPVQPQYGA 7.0 5.0 - - 3879_7:100460306-100460306 C>T_YVLGHVTLGDLDFLPSDPVQPQYGA 0.0 1:201170931-201170931 G>A 1.0 3713 MELANOMA - - - - IGFN1 ENST00000437879,p.D240N|ENST00000335211,p.D240N|uc001gwc.3,p.D240N|ENST00000451870,p.D240N|NM_001164586,p.D240N retained_intron, protein_coding, nonsense_mediated_decay uc001gwc.3 nonsynonymous SNV exon9 c.G718A p.D240N GNAKFDLELDLKDSQSKIYLYKDGE GNAKFDLELDLKNSQSKIYLYKDGE 1.0 9.0 - - 3713_1:201170931-201170931 G>A_GNAKFDLELDLKNSQSKIYLYKDGE 0.0 1:76877919-76877919 C>T 0.0 4155 MELANOMA 0.0005 - ID=COSM166814;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue) - ST6GALNAC3 NM_152996,p.A147V|uc001dhh.2,p.A147V|uc010orh.1,p.A82V|NM_001160011,p.A147V|uc001dhg.4,p.A147V|ENST00000328299,p.A147V protein_coding, processed_transcript uc010orh.1 nonsynonymous SNV exon2 c.C245T p.A82V LLLKNPDYFFKEANTTIYVIWGPFR LLLKNPDYFFKEVNTTIYVIWGPFR 6.0 5.0 - - 4155_1:76877919-76877919 C>T_LLLKNPDYFFKEVNTTIYVIWGPFR 0.0 3:48423512-48423512 G>A 0.0 4275 COLORECTAL - - ID=COSM1206874;OCCURENCE=1(large_intestine) - FBXW12 ENST00000445170,p.R392H|NM_207102,p.R411H|uc003csr.3,p.R411H|ENST00000415155,p.R341H|uc003css.3,p.R341H|ENST00000436231,p.R254H|ENST00000296438,p.R411H|uc010hjv.3,p.R392H|NM_001159927,p.R341H|uc010hjw.3,p.R310H|NM_001159929,p.R392H retained_intron, protein_coding, processed_transcript uc010hjw.3 nonsynonymous SNV exon7 c.G929A p.R310H NSVHVYMWEEGGRHPYLRSCCHLEN NSVHVYMWEEGGHHPYLRSCCHLEN 1.0 9.0 - - 4275_3:48423512-48423512 G>A_NSVHVYMWEEGGHHPYLRSCCHLEN 0.0 11:43419634-43419634 A>C 0.0 4320 COLORECTAL - - - - TTC17 uc001mxi.3,p.K343N|uc001mxh.3,p.K343N|ENST00000299240,p.K343N|uc001mxj.3,p.K113N|ENST00000039989,p.K343N|uc010rfj.2,p.K286N|NM_018259,p.K343N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010rfj.2 nonsynonymous SNV exon7 c.A858C p.K286N AIKRKHAVLCQQKLEQKLEAQHRSL AIKRKHAVLCQQNLEQKLEAQHRSL 9.0 6.0 - - 4320_11:43419634-43419634 A>C_AIKRKHAVLCQQNLEQKLEAQHRSL 0.0 14:25043994-25043994 C>T 0.0 4037 NSCLC - - - - CTSG ENST00000216336,p.A76T|uc001wpq.3,p.A76T|NM_001911,p.A76T retained_intron, protein_coding uc001wpq.3 nonsynonymous SNV exon3 c.G226A p.A76T HCWGSNINVTLGAHNIQRRENTQQH HCWGSNINVTLGTHNIQRRENTQQH 1.0 10.0 - - 4037_14:25043994-25043994 C>T_HCWGSNINVTLGTHNIQRRENTQQH 0.0 10:7866335-7866335 G>A 0.0 4316 COLORECTAL - - - - TAF3 NM_031923,p.G74E|uc010qbd.3,p.G74E|ENST00000344293,p.G74E protein_coding uc010qbd.3 nonsynonymous SNV exon2 c.G221A p.G74E ILDDVGEAFQLMGVSLHELEDYIHN ILDDVGEAFQLMEVSLHELEDYIHN 5.0 4.0 - - 4316_10:7866335-7866335 G>A_ILDDVGEAFQLMEVSLHELEDYIHN 0.0 2:141291664-141291664 C>T 0.0 4259 COLORECTAL 0.0 - - 1 LRP1B ENST00000389484,p.R2563H|NM_018557,p.R2563H|uc002tvj.1,p.R2563H protein_coding, processed_transcript uc002tvj.1 nonsynonymous SNV exon47 c.G7688A p.R2563H SCRRGFKPCYNRRCIPHGKLCDGEN SCRRGFKPCYNRHCIPHGKLCDGEN 3.0 10.0 - - 4259_2:141291664-141291664 C>T_SCRRGFKPCYNRHCIPHGKLCDGEN 0.0 1:93712494-93712494 A>G 1.0 4037 NSCLC - - - - CCDC18 NM_206886,p.K1061E|uc021opx.1,p.K1061E|ENST00000557479,p.K1179E|ENST00000343253,p.K1060E|ENST00000401026,p.K1061E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021opx.1 nonsynonymous SNV exon23 c.A3181G p.K1061E LEGTLEKSELELKECNKQIESLNDK LEGTLEKSELELEECNKQIESLNDK 5.0 10.0 - - 4037_1:93712494-93712494 A>G_LEGTLEKSELELEECNKQIESLNDK 0.0 13:111155614-111155614 C>T 1.0 3713 MELANOMA - - - - COL4A2 ENST00000360467,p.L1342F|NM_001846,p.L1342F|uc001vqx.3,p.L1342F protein_coding, processed_transcript uc001vqx.3 nonsynonymous SNV exon42 c.C4024T p.L1342F DSGPQGRPGVFGLPGEKGPRGEQGF DSGPQGRPGVFGFPGEKGPRGEQGF 8.0 6.0 - - 3713_13:111155614-111155614 C>T_DSGPQGRPGVFGFPGEKGPRGEQGF 0.0 20:58468231-58468231 C>G 0.0 4266 COLORECTAL - - - - SYCP2 uc002yaz.3,p.D587H|NM_014258,p.D587H|ENST00000371001,p.D587H|ENST00000357552,p.D587H|ENST00000446834,p.D587H retained_intron, protein_coding, processed_transcript uc002yaz.3 nonsynonymous SNV exon21 c.G1759C p.D587H NQNFSELQDVIPDSQAAEKRDHTIL NQNFSELQDVIPHSQAAEKRDHTIL 4.0 7.0 - - 4266_20:58468231-58468231 C>G_NQNFSELQDVIPHSQAAEKRDHTIL 0.0 4:96070045-96070045 G>T 0.0 4126 NSCLC - - - - BMPR1B ENST00000264568,p.W408L|ENST00000394931,p.W408L|NM_001256792,p.W408L|uc031sgn.1,p.W438L|NM_001203,p.W408L|uc003htn.4,p.W408L|NM_001256793,p.W438L|ENST00000440890,p.W438L|uc010ilb.3,p.W408L|ENST00000509540,p.W408L|uc003htm.4,p.W408L|ENST00000515059,p.W408L|ENST00000512312,p.W408L|NM_001256794,p.W408L|uc031sgm.1,p.W408L protein_coding uc031sgn.1 nonsynonymous SNV exon9 c.G1313T p.W438L IMADMYSFGLILWEVARRCVSGGIV IMADMYSFGLILLEVARRCVSGGIV 3.0 4.0 - - 4126_4:96070045-96070045 G>T_IMADMYSFGLILLEVARRCVSGGIV 0.0 8:57080755-57080755 C>T 0.0 4287 COLORECTAL - - - 1 PLAG1 ENST00000316981,p.R25H|uc003xsr.4,p.R25H|ENST00000429357,p.R25H|NM_001114634,p.R25H|NM_002655,p.R25H|uc003xsq.4,p.R25H|uc010lyi.3,p.R25H retained_intron, protein_coding, processed_transcript uc010lyi.3 nonsynonymous SNV exon3 c.G74A p.R25H RDTQKVPSGKRKRGETKPRKNFPCQ RDTQKVPSGKRKHGETKPRKNFPCQ 5.0 10.0 - - 4287_8:57080755-57080755 C>T_RDTQKVPSGKRKHGETKPRKNFPCQ 0.0 11:61723302-61723302 A>T 0.0 4287 COLORECTAL - - - - BEST1 ENST00000524926,p.Q120H|ENST00000378042,p.Q60H|ENST00000526988,p.Q14H|uc010rlp.2,p.Q60H|uc001nsr.2,p.Q60H|uc010rlv.2,p.Q14H|uc001nsq.3,p.Q14H|uc010rlt.2,p.Q60H|NM_004183,p.Q120H|uc010rlu.1,p.Q14H|NM_001300786,p.Q60H|uc010rlr.1,p.Q120H|ENST00000534553,p.Q14H|uc001nst.3,p.Q60H|uc001nss.3,p.Q120H|NM_001139443,p.Q60H|ENST00000449131,p.Q60H|ENST00000378043,p.Q120H|uc010rlq.1,p.Q60H|NM_001300787,p.Q60H|ENST00000435278,p.Q120H retained_intron, protein_coding, nonsense_mediated_decay uc010rlv.2 nonsynonymous SNV exon2 c.A42T p.Q14H SLVSGFVEGKDEQGRLLRRTLIRYA SLVSGFVEGKDEHGRLLRRTLIRYA 5.0 8.0 - - 4287_11:61723302-61723302 A>T_SLVSGFVEGKDEHGRLLRRTLIRYA 0.0 19:49845705-49845705 G>C 1.0 4046 OVARIAN - - - - TEAD2 NM_003598,p.T407S|uc010yao.3,p.T279S|NM_001256660,p.T411S|NM_001256659,p.T410S|ENST00000598810,p.T411S|uc002pnh.4,p.T411S|NM_001256658,p.T410S|ENST00000593945,p.T411S|ENST00000311227,p.T407S|ENST00000377214,p.T410S|ENST00000539846,p.T279S|uc031rls.1,p.T411S|NM_001256661,p.T411S|uc010emw.4,p.T410S|uc002png.4,p.T410S|ENST00000601519,p.T410S|uc002pni.4,p.T410S|uc002pnj.4,p.T407S|NM_001256662,p.T279S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031rls.1 nonsynonymous SNV exon12 c.C1232G p.T411S ERYMMNSVLENFTILQVVTNRDTQE ERYMMNSVLENFSILQVVTNRDTQE 10.0 10.0 - - 4046_19:49845705-49845705 G>C_ERYMMNSVLENFSILQVVTNRDTQE 0.0 16:633537-633537 A>C 1.0 4345 COLORECTAL - - - - PIGQ NM_148920,p.K729T|ENST00000026218,p.K729T|uc002chp.3,p.K299T|uc002cho.3,p.K729T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002chp.3 nonsynonymous SNV exon2 c.A896C p.K299T PSAEQHPASGGLKQSLTPVPSGPGP PSAEQHPASGGLTQSLTPVPSGPGP 7.0 9.0 - - 4345_16:633537-633537 A>C_PSAEQHPASGGLTQSLTPVPSGPGP 0.0 4:89415439-89415439 C>T 1.0 4071 COLORECTAL - - - - HERC5 NM_016323,p.P801S|uc011cdm.3,p.P439S|ENST00000508159,p.P439S|ENST00000264350,p.P801S|uc003hrt.4,p.P801S retained_intron, protein_coding, processed_transcript uc011cdm.3 nonsynonymous SNV exon12 c.C1315T p.P439S PLALFKKLLDQMPSLEDLKELSPDL PLALFKKLLDQMSSLEDLKELSPDL 4.0 10.0 - - 4071_4:89415439-89415439 C>T_PLALFKKLLDQMSSLEDLKELSPDL 0.0 15:40758204-40758204 C>T 1.0 2369 MELANOMA - - - - BAHD1 ENST00000561234,p.P739S|uc001zlu.2,p.P740S|ENST00000416165,p.P740S|uc001zlv.2,p.P737S|ENST00000560846,p.P737S|NM_001301132,p.P739S|NM_014952,p.P740S|uc001zlt.2,p.P739S|uc010bbp.1,p.P736S retained_intron, protein_coding uc010bbp.1 nonsynonymous SNV exon7 c.C2206T p.P736S EGLPSRKTALVPPSADYSTPPHRTV EGLPSRKTALVPSSADYSTPPHRTV 7.0 8.0 - - 2369_15:40758204-40758204 C>T_EGLPSRKTALVPSSADYSTPPHRTV 0.0 3:186507958-186507958 C>G 1.0 4244 COLORECTAL - - - - RFC4 NM_002916,p.Q323H|ENST00000433496,p.Q296H|ENST00000296273,p.Q323H|NM_181573,p.Q323H|uc003fqz.3,p.Q323H|ENST00000392481,p.Q323H|uc011bsc.2,p.Q323H retained_intron, protein_coding, nonsense_mediated_decay uc011bsc.2 nonsynonymous SNV exon10 c.G969C p.Q323H HDVVVENNLSDKQKSIITEKLAEVD HDVVVENNLSDKHKSIITEKLAEVD 9.0 4.0 - - 4244_3:186507958-186507958 C>G_HDVVVENNLSDKHKSIITEKLAEVD 0.0 4:99363155-99363155 G>A 1.0 3784 MELANOMA - - - 1 RAP1GDS1 uc003hua.4,p.E480K|uc003htw.4,p.E572K|uc003hty.4,p.E523K|uc003htv.4,p.E571K|NM_001100426,p.E572K|ENST00000408900,p.E522K|NM_001100428,p.E523K|NM_001100427,p.E571K|uc003htz.4,p.E522K|NM_001100429,p.E522K|ENST00000264572,p.E480K|uc003htx.4,p.E571K|NM_021159,p.E571K|ENST00000339360,p.E572K|NM_001100430,p.E480K|ENST00000408927,p.E571K|ENST00000453712,p.E571K|ENST00000380158,p.E523K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003hua.4 nonsynonymous SNV exon13 c.G1438A p.E480K ICALMGSECLHKEVQDLAFLDVVSK ICALMGSECLHKKVQDLAFLDVVSK 8.0 5.0 - - 3784_4:99363155-99363155 G>A_ICALMGSECLHKKVQDLAFLDVVSK 0.0 8:55537910-55537910 G>A 0.0 3903 MELANOMA - - ID=COSM1686061;OCCURENCE=2(skin) - RP1 NM_006269,p.E490K|uc003xsd.1,p.E490K|ENST00000220676,p.E490K protein_coding uc003xsd.1 nonsynonymous SNV exon4 c.G1468A p.E490K KMIGQFSYSEERESGENKSEYHMFT KMIGQFSYSEERKSGENKSEYHMFT 1.0 6.0 - - 3903_8:55537910-55537910 G>A_KMIGQFSYSEERKSGENKSEYHMFT 0.0 7:6426892-6426892 C>T 1.0 2556 MELANOMA - - ID=COSM1167878,COSM125734;OCCURENCE=3(NS),1(upper_aerodigestive_tract),1(breast),38(skin),1(endometrium) 1 RAC1 uc003spw.3,p.P29S|uc003spx.3,p.P29S|NM_018890,p.P29S|ENST00000348035,p.P29S|ENST00000356142,p.P29S|NM_006908,p.P29S retained_intron, protein_coding, processed_transcript uc003spx.3 nonsynonymous SNV exon2 c.C85T p.P29S TCLLISYTTNAFPGEYIPTVFDNYS TCLLISYTTNAFSGEYIPTVFDNYS 10.0 9.0 CD8 - 2556_7:6426892-6426892 C>T_TCLLISYTTNAFSGEYIPTVFDNYS 1.0 2:170066041-170066041 C>T 0.0 2359 MELANOMA - - - - LRP2 NM_004525,p.G2131R|ENST00000263816,p.G2131R|uc002ues.3,p.G2131R retained_intron, protein_coding, processed_transcript uc002ues.3 nonsynonymous SNV exon38 c.G6391A p.G2131R ASDNAIRRIKPDGSSLMNIVTHGIG ASDNAIRRIKPDRSSLMNIVTHGIG 3.0 7.0 - - 2359_2:170066041-170066041 C>T_ASDNAIRRIKPDRSSLMNIVTHGIG 0.0 3:154861251-154861251 C>T 1.0 3466 MELANOMA - - - - MME NM_007289,p.S403L|ENST00000492661,p.S403L|NM_007288,p.S403L|NM_007287,p.S403L|ENST00000360490,p.S403L|ENST00000493237,p.S403L|NM_000902,p.S403L|ENST00000462745,p.S403L|ENST00000460393,p.S403L retained_intron, protein_coding, processed_transcript NM_007289 nonsynonymous SNV exon13 c.C1208T p.S403L RNAFRKALYGTTSETATWRRCANYV RNAFRKALYGTTLETATWRRCANYV 4.0 4.0 - - 3466_3:154861251-154861251 C>T_RNAFRKALYGTTLETATWRRCANYV 0.0 1:227182087-227182087 G>A 1.0 4298 COLORECTAL - - - - CDC42BPA uc009xes.3,p.P1653L|uc001hqs.3,p.P1600L|NM_003607,p.P1681L|ENST00000535525,p.P1661L|uc001hqq.3,p.P980L|ENST00000366769,p.P1681L|ENST00000366765,p.P1694L|uc010pvs.2,p.P1661L|ENST00000334218,p.P1743L|ENST00000366764,p.P1653L|NM_014826,p.P1600L|uc001hqp.3,p.P899L|ENST00000366767,p.P1600L|uc001hqr.3,p.P1681L|ENST00000366766,p.P1716L protein_coding, processed_transcript uc010pvs.2 nonsynonymous SNV exon36 c.C4982T p.P1661L PARDFDGEDSDSPRHSTASNSSNLS PARDFDGEDSDSLRHSTASNSSNLS 8.0 8.0 - - 4298_1:227182087-227182087 G>A_PARDFDGEDSDSLRHSTASNSSNLS 0.0 2:27016112-27016112 C>T 1.0 3713 MELANOMA - - - - CENPA ENST00000335756,p.R130W|NM_001809,p.R130W|ENST00000233505,p.R104W|uc002rhs.3,p.R104W|uc002rhr.3,p.R130W|NM_001042426,p.R104W protein_coding, processed_transcript, nonsense_mediated_decay uc002rhs.3 nonsynonymous SNV exon3 c.C310T p.R104W RVTLFPKDVQLARRIRGLEEGLG RVTLFPKDVQLAWRIRGLEEGLG 4.0 10.0 - - 3713_2:27016112-27016112 C>T_RVTLFPKDVQLAWRIRGLEEGLG 0.0 19:52003519-52003519 C>A 0.0 4258 ENDOMETRIAL - - - - SIGLEC12 uc002pwx.1,p.V155L|NM_033329,p.V37L|uc002pww.1,p.V37L|NM_053003,p.V155L|ENST00000291707,p.V155L|ENST00000598614,p.V37L protein_coding, nonsense_mediated_decay uc002pwx.1 nonsynonymous SNV exon2 c.G463T p.V155L ASQDLLSRYRLEVPESVTVQEGLCV ASQDLLSRYRLELPESVTVQEGLCV 3.0 8.0 - - 4258_19:52003519-52003519 C>A_ASQDLLSRYRLELPESVTVQEGLCV 0.0 15:48766550-48766550 G>T 1.0 3713 MELANOMA - - - - FBN1 uc001zwx.2,p.T1371N|NM_000138,p.T1371N|ENST00000316623,p.T1371N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001zwx.2 nonsynonymous SNV exon34 c.C4112A p.T1371N IKCTDLDECSNGTHMCSQHADCKNT IKCTDLDECSNGNHMCSQHADCKNT 3.0 10.0 - - 3713_15:48766550-48766550 G>T_IKCTDLDECSNGNHMCSQHADCKNT 0.0 13:114817595-114817595 G>A 1.0 3466 MELANOMA - - - - RASA3 ENST00000389544,p.P38L|NM_007368,p.P70L|ENST00000334062,p.P70L|ENST00000542651,p.P70L|uc001vui.3,p.P70L|uc010tkk.2,p.P38L protein_coding uc010tkk.2 nonsynonymous SNV exon3 c.C113T p.P38L CPFYGEDFYCEIPRSFRHLSFYIFD CPFYGEDFYCEILRSFRHLSFYIFD 8.0 9.0 - - 3466_13:114817595-114817595 G>A_CPFYGEDFYCEILRSFRHLSFYIFD 0.0 4:184236860-184236860 C>T 1.0 2556 MELANOMA - - - - WWC2 uc003ivo.4,p.S314F|ENST00000504005,p.S868F|uc010irz.3,p.S527F|uc003ivk.4,p.S981F|ENST00000403733,p.S1186F|uc010irx.3,p.S1186F|NM_024949,p.S1186F|ENST00000508747,p.S314F|ENST00000448232,p.S1210F|uc010iry.3,p.S868F|ENST00000513834,p.S1137F|uc003ivn.4,p.S701F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010irz.3 nonsynonymous SNV exon11 c.C1580T p.S527F IAYFTRAKISIPSLPADDV IAYFTRAKISIPFLPADDV 8.0 3.0 - - 2556_4:184236860-184236860 C>T_IAYFTRAKISIPFLPADDV 0.0 19:58290417-58290417 G>A 1.0 4346 COLORECTAL - - - - ZNF586 NM_001077426,p.S112N|uc002qqe.3,p.S112N|ENST00000396150,p.S112N protein_coding uc002qqe.3 nonsynonymous SNV exon2 c.G335A p.S112N DFILGKRPMSAVSVENHFTKALHSC DFILGKRPMSAVNVENHFTKALHSC 8.0 5.0 - - 4346_19:58290417-58290417 G>A_DFILGKRPMSAVNVENHFTKALHSC 0.0 X:15845471-15845471 G>A 1.0 4000 MELANOMA - - - - AP1S2 uc010nex.4,p.L154F|NM_001272071,p.L154F protein_coding, processed_transcript uc010nex.4 nonsynonymous SNV exon6 c.C460T p.L154F EDAKEAETPRSVLEEIGLT EDAKEAETPRSVFEEIGLT 10.0 10.0 - - 4000_X:15845471-15845471 G>A_EDAKEAETPRSVFEEIGLT 0.0 15:41961612-41961612 G>C 1.0 4046 OVARIAN - - - - MGA ENST00000570161,p.V174L|ENST00000389936,p.V174L|NM_001080541,p.V174L|NM_001164273,p.V174L|uc010ucy.2,p.V174L|ENST00000566718,p.V174L|ENST00000566586,p.V174L|ENST00000219905,p.V174L|uc001zog.1,p.V174L|uc010ucz.2,p.V174L|ENST00000563576,p.V174L|ENST00000545763,p.V174L retained_intron, protein_coding, processed_transcript uc010ucz.2 nonsynonymous SNV exon2 c.G520C p.V174L SPSTGHYWMHQPVSFYKLKLTNNTL SPSTGHYWMHQPLSFYKLKLTNNTL 6.0 7.0 - - 4046_15:41961612-41961612 G>C_SPSTGHYWMHQPLSFYKLKLTNNTL 0.0 14:95033567-95033567 T>G 0.0 4238 COLORECTAL - - - - SERPINA4 NM_001289033,p.L304V|uc001ydl.3,p.L304V|NM_001289032,p.L341V|uc001ydk.3,p.L304V|uc010avd.3,p.L341V|ENST00000557004,p.L304V|ENST00000298841,p.L304V|NM_006215,p.L304V|ENST00000555095,p.L304V protein_coding uc010avd.3 nonsynonymous SNV exon3 c.T1021G p.L341V VLTPEMLMRWNNLLRKRNFYKKLEL VLTPEMLMRWNNVLRKRNFYKKLEL 4.0 1.0 - - 4238_14:95033567-95033567 T>G_VLTPEMLMRWNNVLRKRNFYKKLEL 0.0 1:43395317-43395317 T>C 1.0 4252 COLORECTAL - - - - SLC2A1 NM_006516,p.I272V|ENST00000439722,p.I177V|uc001cik.2,p.I272V|ENST00000426263,p.I272V protein_coding, processed_transcript uc001cik.2 nonsynonymous SNV exon6 c.A814G p.I272V LELFRSPAYRQPILIAVVLQLSQQL LELFRSPAYRQPVLIAVVLQLSQQL 9.0 8.0 CD8 - 4252_1:43395317-43395317 T>C_LELFRSPAYRQPVLIAVVLQLSQQL 2.0 12:118465775-118465775 A>C 0.0 4317 COLORECTAL - - - - RFC5 NM_181578,p.T250P|NM_007370,p.T271P|uc010syx.2,p.T250P|ENST00000392542,p.T250P|NM_001130112,p.T186P|ENST00000454402,p.T271P|uc001twq.3,p.T271P|uc010syz.2,p.T186P|ENST00000229043,p.T186P retained_intron, protein_coding, processed_transcript uc010syz.2 nonsynonymous SNV exon10 c.A556C p.T186P FTTAYRNITELKTLKGLALHDILTE FTTAYRNITELKPLKGLALHDILTE 7.0 1.0 - - 4317_12:118465775-118465775 A>C_FTTAYRNITELKPLKGLALHDILTE 0.0 8:17053106-17053106 C>T 0.0 3713 MELANOMA - - - - ZDHHC2 uc003wxe.3,p.P116S|ENST00000522184,p.P71S|ENST00000262096,p.P116S|NM_016353,p.P116S retained_intron, protein_coding uc003wxe.3 nonsynonymous SNV exon4 c.C346T p.P116S HQEVLRRAAKDLPIYTRTMSGAIRY HQEVLRRAAKDLSIYTRTMSGAIRY 2.0 5.0 - - 3713_8:17053106-17053106 C>T_HQEVLRRAAKDLSIYTRTMSGAIRY 0.0 X:34149093-34149093 C>A 0.0 4287 COLORECTAL - - - - FAM47A NM_203408,p.G435W|ENST00000346193,p.G435W|uc004ddg.3,p.G435W protein_coding uc004ddg.3 nonsynonymous SNV exon1 c.G1303T p.G435W NLLLYILKVLDSGRTLKDVWDRCEA NLLLYILKVLDSWRTLKDVWDRCEA 1.0 8.0 - - 4287_X:34149093-34149093 C>A_NLLLYILKVLDSWRTLKDVWDRCEA 0.0 19:19221525-19221525 C>T 1.0 4287 COLORECTAL - - - - SLC25A42 ENST00000318596,p.S266F|NM_178526,p.S266F|uc002nlf.3,p.S266F retained_intron, protein_coding, processed_transcript uc002nlf.3 nonsynonymous SNV exon8 c.C797T p.S266F MQTAGVTGYPRASIARTLRTIVREE MQTAGVTGYPRAFIARTLRTIVREE 5.0 4.0 - - 4287_19:19221525-19221525 C>T_MQTAGVTGYPRAFIARTLRTIVREE 0.0 12:32136132-32136132 C>T 0.0 4155 MELANOMA - - - - KIAA1551 NM_018169,p.S748L|ENST00000312561,p.S748L|uc001rks.3,p.S748L retained_intron, protein_coding, processed_transcript uc001rks.3 nonsynonymous SNV exon4 c.C2243T p.S748L TALSMVMHNYESSGINITKGTELQI TALSMVMHNYESLGINITKGTELQI 6.0 10.0 - - 4155_12:32136132-32136132 C>T_TALSMVMHNYESLGINITKGTELQI 0.0 1:235969930-235969930 C>A 1.0 4317 COLORECTAL - - - - LYST NM_000081,p.V836F|uc001hxl.2,p.V836F|uc001hxj.3,p.V836F|ENST00000389793,p.V836F|ENST00000389794,p.V836F|NM_001301365,p.V836F|ENST00000536965,p.V836F retained_intron, protein_coding, processed_transcript uc001hxl.2 nonsynonymous SNV exon6 c.G2506T p.V836F IISLGEQQKDASVPDIDGIDIEQKE IISLGEQQKDASFPDIDGIDIEQKE 7.0 9.0 - - 4317_1:235969930-235969930 C>A_IISLGEQQKDASFPDIDGIDIEQKE 0.0 19:47424733-47424733 T>G 1.0 4155 MELANOMA - - - - ARHGAP35 ENST00000404338,p.F934C|uc010ekv.3,p.F934C|NM_004491,p.F934C retained_intron, protein_coding, processed_transcript uc010ekv.3 nonsynonymous SNV exon1 c.T2801G p.F934C IPCSQPQHKLEIFHPFFKDVVEKKN IPCSQPQHKLEICHPFFKDVVEKKN 8.0 7.0 - - 4155_19:47424733-47424733 T>G_IPCSQPQHKLEICHPFFKDVVEKKN 0.0 2:73680250-73680250 C>T 0.0 4186 BREAST - - - - ALMS1 uc002sjf.1,p.S2156L|uc002sjh.1,p.S1586L|ENST00000377715,p.S2198L|ENST00000423048,p.S476L|uc002sjg.3,p.S1586L|ENST00000264448,p.S2198L|ENST00000409009,p.S2156L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002sjh.1 nonsynonymous SNV exon1 c.C4757T p.S1586L GTYSHGENHKLVSEHVQRLIDNLNS GTYSHGENHKLVLEHVQRLIDNLNS 6.0 9.0 - - 4186_2:73680250-73680250 C>T_GTYSHGENHKLVLEHVQRLIDNLNS 0.0 4:119948374-119948374 G>T 0.0 4287 COLORECTAL - - - - SYNPO2 NM_133477,p.V284L|ENST00000307142,p.V284L|ENST00000434046,p.V284L|uc003icm.4,p.V284L|uc010ina.3,p.V284L|NM_001286754,p.V253L|NM_001128933,p.V284L|uc010inb.3,p.V284L|uc010inc.3,p.V212L|NM_001128934,p.V284L|ENST00000429713,p.V284L protein_coding uc010inc.3 nonsynonymous SNV exon2 c.G634T p.V212L QESEAGDAGLPRVEVILDCSDRQKT QESEAGDAGLPRLEVILDCSDRQKT 4.0 9.0 - - 4287_4:119948374-119948374 G>T_QESEAGDAGLPRLEVILDCSDRQKT 0.0 8:3046464-3046464 C>T 0.0 4301 MELANOMA - - - - CSMD1 uc011kwj.2,p.G1216E|ENST00000602723,p.G1824E|ENST00000520002,p.G1824E|NM_033225,p.G1823E|ENST00000602557,p.G1824E|ENST00000542608,p.G1823E|ENST00000400186,p.G1824E|uc022aqr.1,p.G1823E|uc003wqe.3,p.G980E|ENST00000537824,p.G1823E|ENST00000539096,p.G1823E retained_intron, protein_coding, processed_transcript uc022aqr.1 nonsynonymous SNV exon35 c.G5468A p.G1823E GTILSPGYPEPYGNNLNCIWKIIVT GTILSPGYPEPYENNLNCIWKIIVT 3.0 1.0 - - 4301_8:3046464-3046464 C>T_GTILSPGYPEPYENNLNCIWKIIVT 0.0 4:72620224-72620224 C>T 0.0 4196 COLORECTAL - - - - GC ENST00000509740,p.A346T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000509740 nonsynonymous SNV exon9 c.G1036A p.A346T VCDPGNTKVMDKALY VCDPGNTKVMDKTLY 2.0 10.0 - - 4196_4:72620224-72620224 C>T_VCDPGNTKVMDKTLY 0.0 7:5428761-5428761 C>A 1.0 4237 NSCLC - - - - TNRC18 uc003soi.4,p.A232S|ENST00000430969,p.A232S|uc010ksx.1,p.A158S|NM_001080495,p.A232S|ENST00000399537,p.A232S retained_intron, protein_coding uc010ksx.1 nonsynonymous SNV exon5 c.G472T p.A158S FGKKDPRARGEEASGPRGVVDLTQE FGKKDPRARGEESSGPRGVVDLTQE 10.0 5.0 - - 4237_7:5428761-5428761 C>A_FGKKDPRARGEESSGPRGVVDLTQE 0.0 8:99441331-99441331 T>A 0.0 4196 COLORECTAL - - - - KCNS2 NM_020697,p.V375E|ENST00000287042,p.V375E|uc022azb.1,p.V375E|uc003yin.3,p.V375E|ENST00000521839,p.V375E protein_coding uc022azb.1 nonsynonymous SNV exon1 c.T1124A p.V375E ACWWWATVSMTTVGYGDVVPGTTAG ACWWWATVSMTTEGYGDVVPGTTAG 3.0 7.0 - - 4196_8:99441331-99441331 T>A_ACWWWATVSMTTEGYGDVVPGTTAG 0.0 7:23830536-23830536 T>G 1.0 4252 COLORECTAL - - - - STK31 uc011jze.3,p.L911V|ENST00000433467,p.L911V|NM_001260505,p.L911V retained_intron, protein_coding, processed_transcript uc011jze.3 nonsynonymous SNV exon22 c.T2731G p.L911V LKMGKPASPGSDLYAYGCLLLWDDK LKMGKPASPGSDVYAYGCLLLWDDK 6.0 2.0 - - 4252_7:23830536-23830536 T>G_LKMGKPASPGSDVYAYGCLLLWDDK 0.0 12:48368041-48368041 G>A 0.0 4298 COLORECTAL - - - 1 COL2A1 ENST00000380518,p.T1383M|NM_033150,p.T1314M|uc001rqv.3,p.T1314M|uc001rqu.3,p.T1383M|ENST00000337299,p.T1314M|NM_001844,p.T1383M|uc001rqt.3,p.T164M retained_intron, protein_coding, processed_transcript uc001rqv.3 nonsynonymous SNV exon52 c.C3941T p.T1314M ANVQMTFLRLLSTEGSQNITYHCKN ANVQMTFLRLLSMEGSQNITYHCKN 4.0 10.0 - - 4298_12:48368041-48368041 G>A_ANVQMTFLRLLSMEGSQNITYHCKN 0.0 12:41422961-41422961 G>T 0.0 4266 COLORECTAL - - - - CNTN1 uc001rmm.2,p.V974L|ENST00000348761,p.V963L|uc031qgz.1,p.V963L|ENST00000347616,p.V974L|ENST00000551295,p.V974L|NM_001843,p.V974L|NM_175038,p.V963L|ENST00000548481,p.V16L protein_coding, processed_transcript, nonsense_mediated_decay uc031qgz.1 nonsynonymous SNV exon21 c.G2887T p.V963L IEVPIPRDGEYVVEVRAHSDGGDGV IEVPIPRDGEYVLEVRAHSDGGDGV 3.0 4.0 - - 4266_12:41422961-41422961 G>T_IEVPIPRDGEYVLEVRAHSDGGDGV 0.0 16:68010070-68010070 G>A 0.0 4301 MELANOMA - - - - DPEP3 NM_022357,p.R411C|uc010cex.3,p.R410C|ENST00000268793,p.R411C|NM_001129758,p.R410C|uc002evc.4,p.R411C protein_coding, processed_transcript uc010cex.3 nonsynonymous SNV exon9 c.C1228T p.R410C STYPVLIEELLSRSWSEEELQGVLR STYPVLIEELLSCSWSEEELQGVLR 4.0 7.0 - - 4301_16:68010070-68010070 G>A_STYPVLIEELLSCSWSEEELQGVLR 0.0 11:73020968-73020968 C>T 0.0 4345 COLORECTAL - - ID=COSM1356871;OCCURENCE=1(large_intestine) - ARHGEF17 ENST00000263674,p.R429W|NM_014786,p.R429W|uc001otu.3,p.R429W retained_intron, protein_coding, processed_transcript uc001otu.3 nonsynonymous SNV exon1 c.C1285T p.R429W RSPSFGAGEGLLRSQARTRAKGPGG RSPSFGAGEGLLWSQARTRAKGPGG 5.0 8.0 - - 4345_11:73020968-73020968 C>T_RSPSFGAGEGLLWSQARTRAKGPGG 0.0 11:20982103-20982103 G>A 1.0 3784 MELANOMA - - - - NELL1 ENST00000298925,p.E461K|ENST00000325319,p.E376K|uc001mqf.3,p.E433K|NM_001288713,p.E461K|uc010rdo.2,p.E376K|NM_201551,p.E433K|uc010rdp.2,p.E193K|NM_001288714,p.E376K|NM_006157,p.E433K|ENST00000532434,p.E433K|uc001mqe.3,p.E433K|ENST00000357134,p.E433K|uc009yid.3,p.E461K retained_intron, protein_coding, processed_transcript uc010rdp.2 nonsynonymous SNV exon9 c.G577A p.E193K GYISVQGDSAYCEDIDECAAKMHYC GYISVQGDSAYCKDIDECAAKMHYC 10.0 1.0 - - 3784_11:20982103-20982103 G>A_GYISVQGDSAYCKDIDECAAKMHYC 0.0 2:179477691-179477691 T>G 0.0 4213 COLORECTAL - - - - TTN uc031rqc.1,p.Y16586S|uc031rqd.1,p.Y14945S|ENST00000359218,p.Y7646S|ENST00000342175,p.Y7713S|NM_001267550,p.Y16586S|uc021vta.2,p.Y7646S|NM_003319,p.Y7521S|ENST00000591111,p.Y14945S|ENST00000589042,p.Y16586S|NM_001256850,p.Y14945S|ENST00000460472,p.Y7521S|ENST00000342992,p.Y14018S|uc021vsz.2,p.Y7713S|NM_133437,p.Y7713S|uc021vtb.2,p.Y7521S|uc021vsy.2,p.Y14018S|NM_133432,p.Y7646S|NM_133378,p.Y14018S retained_intron, protein_coding uc031rqd.1 nonsynonymous SNV exon215 c.A44834C p.Y14945S KPEHDGGAKIESYVIEMLKTGTDEW KPEHDGGAKIESSVIEMLKTGTDEW 5.0 10.0 - - 4213_2:179477691-179477691 T>G_KPEHDGGAKIESSVIEMLKTGTDEW 0.0 1:111491002-111491002 C>G 1.0 4037 NSCLC - - - - LRIF1 NM_018372,p.R630T|uc001eab.3,p.R94T|uc001dzz.3,p.R94T|ENST00000485275,p.R94T|NM_001006945,p.R94T|ENST00000494675,p.R94T|ENST00000369763,p.R630T|uc001eaa.3,p.R630T protein_coding uc001eab.3 nonsynonymous SNV exon3 c.G281C p.R94T EGERKQQNFDKKRKAKTNKKMDHIK EGERKQQNFDKKTKAKTNKKMDHIK 7.0 10.0 - - 4037_1:111491002-111491002 C>G_EGERKQQNFDKKTKAKTNKKMDHIK 0.0 2:15757435-15757435 C>T 1.0 4213 COLORECTAL - - - - DDX1 uc010yjq.2,p.S270F|uc021vee.2,p.S281F|ENST00000381341,p.S362F|uc002rce.4,p.S362F|NM_004939,p.S362F|ENST00000233084,p.S362F retained_intron, protein_coding uc021vee.2 nonsynonymous SNV exon11 c.C842T p.S281F LDDLVSTGKLNLSQVRFLVLDEADG LDDLVSTGKLNLFQVRFLVLDEADG 10.0 7.0 CD8 - 4213_2:15757435-15757435 C>T_LDDLVSTGKLNLFQVRFLVLDEADG 1.0 15:81271632-81271632 ->T 1.0 4180 BREAST - - - - MESDC2 uc002bfy.1,p.K211fs|ENST00000561312,p.K211fs|ENST00000261758,p.K211fs|NM_015154,p.K211fs protein_coding, processed_transcript, nonsense_mediated_decay uc002bfy.1 frameshift insertion exon3 c.632dupA p.K211fs EKNKTKQDKGKKKKEGDLKSRSSKE EKNKTKQDKGKKKEGRRSEISVFQGRKSSWE 9.0 8.0 - - 4180_15:81271632-81271632 ->T_EKNKTKQDKGKKKEGRRSEISVFQGRKSSWE 0.0 7:128632137-128632137 G>C 1.0 3775 CERVICAL - - - - TNPO3 NM_001191028,p.S425C|ENST00000265388,p.S425C|uc010llz.2,p.S425C|uc003vom.2,p.S359C|ENST00000393245,p.S425C|ENST00000471166,p.S425C|NM_012470,p.S425C|ENST00000471234,p.S425C|uc003vol.2,p.S425C|ENST00000482320,p.S359C|uc010lly.2,p.S425C protein_coding uc010llz.2 nonsynonymous SNV exon10 c.C1274G p.S425C LIGSMECFAQLYSTLKEGNPPWEVT LIGSMECFAQLYCTLKEGNPPWEVT 7.0 10.0 - - 3775_7:128632137-128632137 G>C_LIGSMECFAQLYCTLKEGNPPWEVT 0.0 10:124402790-124402790 G>A 1.0 4316 COLORECTAL 0.0009 - - - DMBT1 uc001lgm.1,p.R1745H|NM_004406,p.R1745H|ENST00000368956,p.R1745H|uc001lgk.1,p.R2373H|NM_007329,p.R2373H|ENST00000338354,p.R2373H|uc009xzz.1,p.R2372H|ENST00000368955,p.R2363H|ENST00000344338,p.R2363H|ENST00000359586,p.R1093H|uc009yac.1,p.R667H|uc001lgl.1,p.R2363H|uc021qag.1,p.R2363H|NM_017579,p.R2363H|uc021qaf.1,p.R2373H|uc021qah.1,p.R1745H|ENST00000368909,p.R2373H|uc009yab.1,p.R1076H|uc010qtx.1,p.R1093H|ENST00000330163,p.R1745H protein_coding uc021qah.1 nonsynonymous SNV exon40 c.G5234A p.R1745H KMVVCRAYDPSSRCYRGCVLRSKRD KMVVCRAYDPSSHCYRGCVLRSKRD 10.0 9.0 CD8 - 4316_10:124402790-124402790 G>A_KMVVCRAYDPSSHCYRGCVLRSKRD 2.0 20:44519228-44519228 G>A 1.0 3713 MELANOMA - - - - NEURL2 NM_080749,p.P135S|NM_001278535,p.P135S|uc002xqg.2,p.P135S|ENST00000372518,p.P135S protein_coding uc002xqg.2 nonsynonymous SNV exon1 c.C403T p.P135S PREGRPEAEAAAPSRPPTLLVEPYL PREGRPEAEAAASSRPPTLLVEPYL 4.0 8.0 - - 3713_20:44519228-44519228 G>A_PREGRPEAEAAASSRPPTLLVEPYL 0.0 17:11784563-11784563 C>T 1.0 2369 MELANOMA - - - - DNAH9 uc010coo.3,p.P2841S|NM_001372,p.P3547S|ENST00000454412,p.P3547S|ENST00000262442,p.P3547S|uc002gne.3,p.P3547S retained_intron, protein_coding, processed_transcript uc010coo.3 nonsynonymous SNV exon43 c.C8521T p.P2841S FIKIGDKECEYNPKFRLILHTKLAN FIKIGDKECEYNSKFRLILHTKLAN 7.0 9.0 - - 2369_17:11784563-11784563 C>T_FIKIGDKECEYNSKFRLILHTKLAN 0.0 9:111625513-111625513 C>T 0.0 4278 COLORECTAL - - - - ACTL7A ENST00000333999,p.P304L|NM_006687,p.P304L|uc004bdj.1,p.P304L protein_coding uc004bdj.1 nonsynonymous SNV exon1 c.C911T p.P304L VPLSEHTIRYVLPDGKEIQLCQERF VPLSEHTIRYVLLDGKEIQLCQERF 3.0 6.0 - - 4278_9:111625513-111625513 C>T_VPLSEHTIRYVLLDGKEIQLCQERF 0.0 20:741813-741813 C>T 0.0 3775 CERVICAL - - - - SLC52A3 uc002wed.4,p.D423N|NM_033409,p.D423N|ENST00000217254,p.D423N protein_coding, processed_transcript uc002wed.4 nonsynonymous SNV exon5 c.G1267A p.D423N SYVKVMLGVVLRDLSRSALLWCGAA SYVKVMLGVVLRNLSRSALLWCGAA 5.0 10.0 - - 3775_20:741813-741813 C>T_SYVKVMLGVVLRNLSRSALLWCGAA 0.0 6:143090831-143090831 G>A 1.0 4000 MELANOMA - - - - HIVEP2 ENST00000012134,p.P1682L|NM_006734,p.P1682L|ENST00000367603,p.P1682L|uc003qjd.3,p.P1682L|ENST00000367604,p.P1682L protein_coding, processed_transcript uc003qjd.3 nonsynonymous SNV exon5 c.C5045T p.P1682L YASWCISSCNPNPSGLNTKTTLALL YASWCISSCNPNLSGLNTKTTLALL 7.0 4.0 CD8 - 4000_6:143090831-143090831 G>A_YASWCISSCNPNLSGLNTKTTLALL 1.0 2:54877040-54877040 G>A 1.0 4244 COLORECTAL - - - - SPTBN1 NM_003128,p.E1831K|uc002rxx.3,p.E1818K|NM_178313,p.E1818K|ENST00000356805,p.E1831K|uc002rxu.3,p.E1831K|ENST00000333896,p.E1818K retained_intron, protein_coding uc002rxx.3 nonsynonymous SNV exon25 c.G5452A p.E1818K GRIQDKHKKLPEELGRDQNTVETLQ GRIQDKHKKLPEKLGRDQNTVETLQ 10.0 5.0 - - 4244_2:54877040-54877040 G>A_GRIQDKHKKLPEKLGRDQNTVETLQ 0.0 14:77772726-77772726 T>G 1.0 3678 MELANOMA - - - - POMT2 uc010asr.2,p.K20T|uc001xti.2,p.K131T|ENST00000554948,p.K40T|NM_013382,p.K131T|ENST00000261534,p.K131T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010asr.2 nonsynonymous SNV exon2 c.A59C p.K20T YLSGYDGTFLFQKPGDKYEHHSYMG YLSGYDGTFLFQTPGDKYEHHSYMG 9.0 6.0 - - 3678_14:77772726-77772726 T>G_YLSGYDGTFLFQTPGDKYEHHSYMG 0.0 14:21559195-21559195 C>T 1.0 4287 COLORECTAL 0.0005 - - - ZNF219 NM_016423,p.G557S|NM_001102454,p.G557S|uc001vzs.2,p.G557S|ENST00000360947,p.G557S|ENST00000451119,p.G557S|ENST00000421093,p.G557S|uc001vzr.2,p.G557S|uc010aik.1,p.G557S|NM_001101672,p.G557S retained_intron, protein_coding, processed_transcript, TEC uc010aik.1 nonsynonymous SNV exon5 c.G1669A p.G557S LQRHHREQRSGAGPGPPPEPPPPSQ LQRHHREQRSGASPGPPPEPPPPSQ 5.0 10.0 - - 4287_14:21559195-21559195 C>T_LQRHHREQRSGASPGPPPEPPPPSQ 0.0 15:67665763-67665763 C>T 0.0 2591 MELANOMA - - - - IQCH uc002aqn.2,p.P282L|NM_001284349,p.P282L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002aqn.2 nonsynonymous SNV exon7 c.C845T p.P282L RIRTSRRTIIHIPSLGITLLPANLS RIRTSRRTIIHILSLGITLLPANLS 3.0 8.0 - - 2591_15:67665763-67665763 C>T_RIRTSRRTIIHILSLGITLLPANLS 0.0 1:246720773-246720773 G>A 1.0 4258 ENDOMETRIAL - - - - TFB2M NM_022366,p.P156S|uc001ibn.3,p.P156S|ENST00000366514,p.P156S protein_coding uc001ibn.3 nonsynonymous SNV exon3 c.C466T p.P156S LRVIHCDFFKLDPRSGGVIKPPAMS LRVIHCDFFKLDSRSGGVIKPPAMS 8.0 8.0 - - 4258_1:246720773-246720773 G>A_LRVIHCDFFKLDSRSGGVIKPPAMS 0.0 16:20696709-20696710 GG>- 0.0 4245 COLORECTAL - - - - ACSM1 ENST00000520010,p.P70fs|uc002dhm.1,p.P70fs|ENST00000523065,p.P70fs|NM_052956,p.P70fs|ENST00000307493,p.P70fs|uc010bwg.1,p.P70fs|ENST00000519745,p.P70fs retained_intron, protein_coding, nonsense_mediated_decay uc010bwg.1 frameshift deletion exon3 c.208_209del p.P70fs YWAQKEKEGKRGPNPAFWWVNGQGD YWAQKEKEGKRGKSSFLVGEWPRG 6.0 1.0 - - 4245_16:20696709-20696710 GG>-_YWAQKEKEGKRGKSSFLVGEWPRG 0.0 6:134493375-134493375 T>A 1.0 4335 COLORECTAL - - - 2 SGK1 ENST00000528577,p.I276F|ENST00000475719,p.I204F|uc003qen.4,p.I248F|NM_005627,p.I248F|NM_001143678,p.I262F|NM_001291995,p.I204F|NM_001143677,p.I276F|NM_001143676,p.I343F|ENST00000367858,p.I343F|uc011ecw.2,p.I276F|ENST00000237305,p.I248F|uc011ecv.2,p.I262F|uc011ect.2,p.I238F|uc003qeo.4,p.I343F|ENST00000413996,p.I262F|ENST00000367857,p.I238F|uc011ecu.2,p.I204F retained_intron, protein_coding, processed_transcript uc011ecw.2 nonsynonymous SNV exon8 c.A826T p.I276F IVLTDFGLCKENIEHNSTTSTFCGT IVLTDFGLCKENFEHNSTTSTFCGT 10.0 8.0 - - 4335_6:134493375-134493375 T>A_IVLTDFGLCKENFEHNSTTSTFCGT 0.0 12:88390222-88390222 G>A 0.0 4326 BREAST - - - - C12orf50 ENST00000298699,p.S137L|ENST00000550553,p.S137L|uc001tam.1,p.S137L|uc001tan.3,p.S191L|NM_152589,p.S137L protein_coding, processed_transcript uc001tan.3 nonsynonymous SNV exon6 c.C572T p.S191L YYRFHTPPDILSSKSMTPTAEKQLE YYRFHTPPDILSLKSMTPTAEKQLE 1.0 9.0 - - 4326_12:88390222-88390222 G>A_YYRFHTPPDILSLKSMTPTAEKQLE 0.0 19:57022963-57022963 T>G 0.0 4237 NSCLC - - - - ZNF471 ENST00000308031,p.V8G|ENST00000591759,p.V8G|uc002qnh.3,p.V8G|ENST00000591537,p.V8G|NM_020813,p.V8G protein_coding, processed_transcript uc002qnh.3 nonsynonymous SNV exon2 c.T23G p.V8G MNVEVVKVMPQDLVTFKDVA MNVEVVKGMPQDLVTFKDVA 6.0 9.0 - - 4237_19:57022963-57022963 T>G_MNVEVVKGMPQDLVTFKDVA 0.0 13:32977299-32977299 C>T 1.0 4346 COLORECTAL - - - - N4BP2L1 NM_001286459,p.R171Q|ENST00000380130,p.R171Q|NM_052818,p.R171Q|ENST00000530622,p.R65Q|uc001uuc.3,p.R171Q|ENST00000380133,p.R171Q protein_coding, processed_transcript uc001uuc.3 nonsynonymous SNV exon5 c.G512A p.R171Q RNIHGVSREKIHRMKERYEHDVTFH RNIHGVSREKIHQMKERYEHDVTFH 7.0 2.0 - - 4346_13:32977299-32977299 C>T_RNIHGVSREKIHQMKERYEHDVTFH 0.0 3:52088115-52088115 C>T 1.0 4287 COLORECTAL - - - - DUSP7 uc010hma.2,p.V265M|ENST00000296483,p.V214M|ENST00000495880,p.V265M|ENST00000469623,p.V198M|NM_001947,p.V265M|uc003dct.3,p.V265M protein_coding uc010hma.2 nonsynonymous SNV exon2 c.G793A p.V265M YLGCAKDSTNLDVLGKYGIKYILNV YLGCAKDSTNLDMLGKYGIKYILNV 5.0 4.0 - - 4287_3:52088115-52088115 C>T_YLGCAKDSTNLDMLGKYGIKYILNV 0.0 1:18809325-18809325 C>A 0.0 4046 OVARIAN - - - - KLHDC7A uc001bax.3,p.P617Q|NM_152375,p.P617Q|uc009vpg.3,p.P399Q|ENST00000400664,p.P617Q protein_coding uc009vpg.3 nonsynonymous SNV exon1 c.C1196A p.P399Q YDPRLDRWDFAPPLPSDTFALAHTA YDPRLDRWDFAPQLPSDTFALAHTA 4.0 7.0 - - 4046_1:18809325-18809325 C>A_YDPRLDRWDFAPQLPSDTFALAHTA 0.0 20:50701316-50701316 T>A 1.0 4320 COLORECTAL - - - - ZFP64 ENST00000361387,p.K573M|ENST00000371523,p.K354M|NM_199427,p.K573M|uc002xwk.3,p.K573M|uc002xwj.3,p.K354M protein_coding, processed_transcript uc002xwk.3 nonsynonymous SNV exon9 c.A1718T p.K573M EGLREGSSQHVAKIVTQRAFRCETC EGLREGSSQHVAMIVTQRAFRCETC 9.0 7.0 - - 4320_20:50701316-50701316 T>A_EGLREGSSQHVAMIVTQRAFRCETC 0.0 5:93872730-93872730 A>C 1.0 3879 MELANOMA - - - - KIAA0825 NM_173665,p.I34M|uc011cuk.2,p.I34M|NM_001145678,p.I34M|ENST00000427991,p.I34M|uc003kkp.2,p.I34M|ENST00000329378,p.I34M|ENST00000513200,p.I34M|ENST00000312498,p.I34M retained_intron, protein_coding, processed_transcript uc011cuk.2 nonsynonymous SNV exon3 c.T102G p.I34M PGDLEFEQIFSDIDEKIEQNAASIK PGDLEFEQIFSDMDEKIEQNAASIK 4.0 5.0 - - 3879_5:93872730-93872730 A>C_PGDLEFEQIFSDMDEKIEQNAASIK 0.0 15:42113073-42113073 A>C 0.0 4335 COLORECTAL - - - - MAPKBP1 ENST00000221214,p.N725T|uc010bci.3,p.N842T|NM_014994,p.N842T|NM_001128608,p.N848T|NM_001265611,p.N842T|ENST00000456763,p.N848T|ENST00000457542,p.N842T|uc010bcj.3,p.N349T|uc010bck.3,p.N59T|ENST00000514566,p.N842T|uc010bcl.3,p.N349T|uc010udb.2,p.N681T|uc001zoj.4,p.N842T|uc001zok.4,p.N848T|ENST00000260357,p.N681T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010udb.2 nonsynonymous SNV exon21 c.A2042C p.N681T ESVGFLDPAPAANPGPRRRGRWVQP ESVGFLDPAPAATPGPRRRGRWVQP 6.0 3.0 - - 4335_15:42113073-42113073 A>C_ESVGFLDPAPAATPGPRRRGRWVQP 0.0 19:6415664-6415664 G>A 1.0 4000 MELANOMA - - - - KHSRP NM_003685,p.P590L|uc002mer.4,p.P590L|ENST00000398148,p.P590L retained_intron, protein_coding uc002mer.4 nonsynonymous SNV exon17 c.C1769T p.P590L AYYSHYYQQPPGPVPGPAPAPAAPP AYYSHYYQQPPGLVPGPAPAPAAPP 10.0 10.0 - - 4000_19:6415664-6415664 G>A_AYYSHYYQQPPGLVPGPAPAPAAPP 0.0 1:115398147-115398147 C>T 0.0 4301 MELANOMA - - - - SYCP1 uc009wgw.3,p.S21F|ENST00000369522,p.S21F|ENST00000369518,p.S21F|uc001efq.3,p.S21F|NM_001282541,p.S21F|NM_001282542,p.S21F|ENST00000455987,p.S21F|NM_003176,p.S21F|uc001efr.3,p.S21F protein_coding, processed_transcript uc009wgw.3 nonsynonymous SNV exon2 c.C62T p.S21F LFVPPRSSSSQVSAVKPQTLGGDST LFVPPRSSSSQVFAVKPQTLGGDST 1.0 1.0 - - 4301_1:115398147-115398147 C>T_LFVPPRSSSSQVFAVKPQTLGGDST 0.0 7:103138360-103138360 A>T 0.0 4046 OVARIAN - - - - RELN NM_173054,p.W2953R|uc022ajr.1,p.W2953R|ENST00000343529,p.W2953R|ENST00000424685,p.W2953R|ENST00000428762,p.W2953R|NM_005045,p.W2953R|uc010liz.3,p.W2953R|uc022ajq.1,p.W2953R retained_intron, protein_coding, processed_transcript uc022ajr.1 nonsynonymous SNV exon55 c.T8857A p.W2953R DLDLRGAKFLQYWGRIGSENNMTSC DLDLRGAKFLQYRGRIGSENNMTSC 4.0 4.0 - - 4046_7:103138360-103138360 A>T_DLDLRGAKFLQYRGRIGSENNMTSC 0.0 7:111418403-111418403 T>C 0.0 4238 COLORECTAL - - - - DOCK4 ENST00000437633,p.N1194S|NM_014705,p.N1194S|ENST00000428084,p.N1203S|ENST00000417165,p.N101S|uc011kml.2,p.N75S|uc011kmm.2,p.N101S|ENST00000494651,p.N77S|ENST00000450156,p.N77S|uc003vfw.3,p.N644S|ENST00000437129,p.N68S|uc003vfx.3,p.N1194S|uc003vfy.3,p.N1239S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011kmm.2 nonsynonymous SNV exon5 c.A302G p.N101S TVSLLNFYKTELNKEEMYIRYIHKL TVSLLNFYKTELSKEEMYIRYIHKL 2.0 2.0 - - 4238_7:111418403-111418403 T>C_TVSLLNFYKTELSKEEMYIRYIHKL 0.0 17:35563743-35563743 G>A 1.0 3713 MELANOMA - - - - ACACA uc002hnk.3,p.P1186L|NM_198836,p.P1264L|ENST00000394406,p.P1264L|uc002hnl.3,p.P1206L|NM_198834,p.P1301L|uc002hnm.3,p.P1264L|NM_198838,p.P1186L|ENST00000335166,p.P1186L|ENST00000360679,p.P1206L|NM_198839,p.P1264L|uc002hno.3,p.P1301L|ENST00000353139,p.P1301L|NM_198837,p.P1206L|uc002hnn.3,p.P1264L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay uc002hno.3 nonsynonymous SNV exon32 c.C3902T p.P1301L VMGCFSDSPPQSPTFPEAGHTSLYD VMGCFSDSPPQSLTFPEAGHTSLYD 5.0 10.0 - - 3713_17:35563743-35563743 G>A_VMGCFSDSPPQSLTFPEAGHTSLYD 0.0 22:38083977-38083977 G>T 1.0 4317 COLORECTAL - - - - NOL12 NM_024313,p.E48D|uc011anm.1,p.E48D|ENST00000438329,p.E48D|ENST00000359114,p.E48D|uc003atp.3,p.E48D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011anm.1 nonsynonymous SNV exon2 c.G144T p.E48D KRKVERKKAAIEEIKQRLKEEQRKL KRKVERKKAAIEDIKQRLKEEQRKL 9.0 9.0 - - 4317_22:38083977-38083977 G>T_KRKVERKKAAIEDIKQRLKEEQRKL 0.0 1:148024720-148024720 G>T 1.0 4071 COLORECTAL - - - - NBPF8 uc001eqf.4,p.L433I|NM_001037501,p.L433I|ENST00000369219,p.L93I|uc001eqq.3,p.L93I protein_coding uc001eqq.3 nonsynonymous SNV exon2 c.C277A p.L93I EGCRLAQHLVQKLSPENDNDDDEDV EGCRLAQHLVQKISPENDNDDDEDV 8.0 1.0 - - 4071_1:148024720-148024720 G>T_EGCRLAQHLVQKISPENDNDDDEDV 0.0 4:90035222-90035222 T>- 1.0 4046 OVARIAN - - - - TIGD2 uc003hsk.3,p.I366fs|ENST00000317005,p.I366fs|NM_145715,p.I366fs protein_coding uc003hsk.3 frameshift deletion exon1 c.1097delT p.I366fs KIFWKNLTVLDAIYEVSRAWNMVKS KIFWKNLTVLDAIMKCQELGTW 6.0 8.0 - - 4046_4:90035222-90035222 T>-_KIFWKNLTVLDAIMKCQELGTW 0.0 19:5265166-5265166 G>A 1.0 2359 MELANOMA - - ID=COSM142761;OCCURENCE=1(skin) - PTPRS ENST00000588012,p.P141S|uc002mby.3,p.P141S|NM_130853,p.P141S|uc002mbw.3,p.P141S|ENST00000587303,p.P141S|uc002mbv.3,p.P141S|ENST00000372412,p.P141S|ENST00000348075,p.P141S|ENST00000262963,p.P141S|NM_130855,p.P141S|NM_130854,p.P141S|NM_002850,p.P141S|ENST00000353284,p.P141S|ENST00000592099,p.P141S|ENST00000357368,p.P141S|uc002mbu.1,p.P141S|uc010xin.2,p.P141S|uc002mbx.3,p.P141S retained_intron, protein_coding, processed_transcript uc010xin.2 nonsynonymous SNV exon4 c.C421T p.P141S QLPSGFPNIDMGPQLKVVERTRTAT QLPSGFPNIDMGSQLKVVERTRTAT 8.0 6.0 - - 2359_19:5265166-5265166 G>A_QLPSGFPNIDMGSQLKVVERTRTAT 0.0 8:69017518-69017518 C>T 0.0 3903 MELANOMA - - - 1 PREX2 uc003xxu.1,p.S954F|NM_025170,p.S954F protein_coding, processed_transcript uc003xxu.1 nonsynonymous SNV exon24 c.C2861T p.S954F EFLLLPPPLLGISQDGRQHCIPEDL EFLLLPPPLLGIFQDGRQHCIPEDL 3.0 8.0 - - 3903_8:69017518-69017518 C>T_EFLLLPPPLLGIFQDGRQHCIPEDL 0.0 17:78704453-78704453 T>G 1.0 4245 COLORECTAL - - - - RPTOR ENST00000537330,p.L16V|uc010wuf.1,p.L16V|ENST00000570891,p.L201V|ENST00000544334,p.L201V|uc002jys.3,p.L201V|uc002jyt.1,p.L201V|uc010wug.1,p.L201V|ENST00000306801,p.L201V|NM_020761,p.L201V|NM_001163034,p.L201V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wug.1 nonsynonymous SNV exon5 c.T601G p.L201V PSIFVYDCSNAGLIVKSFKQFALQR PSIFVYDCSNAGVIVKSFKQFALQR 7.0 5.0 - - 4245_17:78704453-78704453 T>G_PSIFVYDCSNAGVIVKSFKQFALQR 0.0 7:71175788-71175788 C>A 0.0 4259 COLORECTAL - - - - WBSCR17 uc003tvy.4,p.L515M|NM_022479,p.L515M|uc003tvz.4,p.L214M|ENST00000333538,p.L515M protein_coding, processed_transcript uc003tvz.4 nonsynonymous SNV exon10 c.C640A p.L214M RYTKEGFLHLGALGTTTLLPDTRCL RYTKEGFLHLGAMGTTTLLPDTRCL 4.0 7.0 - - 4259_7:71175788-71175788 C>A_RYTKEGFLHLGAMGTTTLLPDTRCL 0.0 3:178968705-178968705 G>A 1.0 3775 CERVICAL - - - - KCNMB3 uc003fjo.3,p.S7L|ENST00000392686,p.S7L|ENST00000485523,p.S7L|NM_171829,p.S7L protein_coding, processed_transcript, nonsense_mediated_decay uc003fjo.3 nonsynonymous SNV exon2 c.C20T p.S7L MTAFPASGKKRETDYSDGD MTAFPALGKKRETDYSDGD 6.0 10.0 - - 3775_3:178968705-178968705 G>A_MTAFPALGKKRETDYSDGD 0.0 X:47101515-47101515 G>A 0.0 4196 COLORECTAL - - - - USP11 NM_004651,p.R448Q|uc004dhp.3,p.R448Q|ENST00000218348,p.R448Q|uc004dhq.3,p.R175Q|ENST00000377107,p.R405Q retained_intron, protein_coding uc004dhq.3 nonsynonymous SNV exon8 c.G524A p.R175Q QEVAQEAWQNHKRRNDSVIVDTFHG QEVAQEAWQNHKQRNDSVIVDTFHG 9.0 3.0 - - 4196_X:47101515-47101515 G>A_QEVAQEAWQNHKQRNDSVIVDTFHG 0.0 5:140347642-140347642 C>T 0.0 4266 COLORECTAL - - ID=COSM1434084;OCCURENCE=1(large_intestine) - PCDHAC2 NM_031883,p.R431W|ENST00000289269,p.R431W|uc011dag.2,p.R431W|uc003lii.3,p.R431W|NM_018899,p.R431W protein_coding uc011dag.2 nonsynonymous SNV exon1 c.C1291T p.R431W YTLVVSGPLDRERVAVYNITVTATD YTLVVSGPLDREWVAVYNITVTATD 2.0 10.0 - - 4266_5:140347642-140347642 C>T_YTLVVSGPLDREWVAVYNITVTATD 0.0 1:40705103-40705103 A>C 0.0 4316 COLORECTAL - - - - RLF NM_012421,p.S1577R|uc001cfc.4,p.S1577R|ENST00000372771,p.S1577R|uc001cfd.4,p.S1268R protein_coding, processed_transcript uc001cfd.4 nonsynonymous SNV exon2 c.A3802C p.S1268R SIVRHYKRTHQMSSAYLEQQMENLV SIVRHYKRTHQMRSAYLEQQMENLV 5.0 1.0 - - 4316_1:40705103-40705103 A>C_SIVRHYKRTHQMRSAYLEQQMENLV 0.0 11:18158850-18158850 C>T 0.0 4213 COLORECTAL - - ID=COSM428778;OCCURENCE=1(breast) - MRGPRX3 ENST00000531264,p.T34M|NM_054031,p.T34M|ENST00000396275,p.T34M|uc021qek.1,p.T34M|uc001mnu.3,p.T34M protein_coding uc021qek.1 nonsynonymous SNV exon1 c.C101T p.T34M PCYKQTLSFTGLTCIVSLVALTGNA PCYKQTLSFTGLMCIVSLVALTGNA 1.0 9.0 - - 4213_11:18158850-18158850 C>T_PCYKQTLSFTGLMCIVSLVALTGNA 0.0 2:33572443-33572443 A>T 1.0 4244 COLORECTAL - - - - LTBP1 ENST00000422669,p.E125V|NM_001166264,p.E921V|uc010ymz.2,p.E921V|ENST00000418533,p.E921V|uc010ynb.2,p.E187V|NM_001166266,p.E868V|ENST00000272273,p.E187V|uc010yna.2,p.E868V protein_coding, processed_transcript uc010ynb.2 nonsynonymous SNV exon7 c.A560T p.E187V ISADGRTCEDVNECELLSGVCGEAF ISADGRTCEDVNVCELLSGVCGEAF 9.0 9.0 - - 4244_2:33572443-33572443 A>T_ISADGRTCEDVNVCELLSGVCGEAF 0.0 15:79382744-79382744 T>A 0.0 4078 GASTRIC - - - - RASGRF1 uc002beq.3,p.S33C|uc002bep.3,p.S33C|NM_002891,p.S33C|NM_001145648,p.S33C|ENST00000419573,p.S33C|ENST00000558480,p.S33C|uc002ber.4,p.S33C retained_intron, protein_coding, processed_transcript, TEC uc002ber.4 nonsynonymous SNV exon1 c.A97T p.S33C KDGTRKGYLSKRSSDNTKWQTKWFA KDGTRKGYLSKRCSDNTKWQTKWFA 4.0 2.0 - - 4078_15:79382744-79382744 T>A_KDGTRKGYLSKRCSDNTKWQTKWFA 0.0 16:904648-904648 C>T 1.0 4329 COLORECTAL - - - - LMF1 ENST00000262301,p.A530T|ENST00000399843,p.A530T|uc010uuu.2,p.A313T|uc021tae.1,p.A530T|NM_022773,p.A530T|uc002ckk.2,p.A313T|ENST00000543238,p.A293T|ENST00000568897,p.A313T|uc010bri.2,p.A293T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC uc021tae.1 nonsynonymous SNV exon11 c.G1588A p.A530T RYKFSRPGGRHAAEGKWWVRKRIGA RYKFSRPGGRHATEGKWWVRKRIGA 7.0 9.0 - - 4329_16:904648-904648 C>T_RYKFSRPGGRHATEGKWWVRKRIGA 0.0 8:143784578-143784578 A>C 0.0 4298 COLORECTAL - - - - LY6K ENST00000292430,p.K96T|ENST00000561179,p.K154T|NM_017527,p.K96T|uc011ljv.2,p.K96T protein_coding, processed_transcript uc011ljv.2 nonsynonymous SNV exon3 c.A287C p.K96T QCSAGCAAMERPKPEEKRFLLEEPM QCSAGCAAMERPTPEEKRFLLEEPM 3.0 3.0 - - 4298_8:143784578-143784578 A>C_QCSAGCAAMERPTPEEKRFLLEEPM 0.0 15:101853605-101853605 C>T 0.0 4258 ENDOMETRIAL - - - - PCSK6 ENST00000398185,p.G720D|ENST00000358417,p.G878D|uc010bpd.3,p.G688D|ENST00000348070,p.G891D retained_intron, protein_coding, processed_transcript uc010bpd.3 nonsynonymous SNV exon17 c.G2063A p.G688D ACGEGFYPEEMPGLPHKVCRRCDEN ACGEGFYPEEMPDLPHKVCRRCDEN 5.0 3.0 - - 4258_15:101853605-101853605 C>T_ACGEGFYPEEMPDLPHKVCRRCDEN 0.0 12:53646663-53646663 C>T 1.0 2369 MELANOMA - - - - MFSD5 ENST00000329548,p.S15F|uc001sch.2,p.S122F|uc001sci.2,p.S15F|NM_001170790,p.S122F|ENST00000551660,p.S122F|ENST00000534842,p.S122F|uc021qye.1,p.S15F|NM_032889,p.S15F protein_coding, processed_transcript uc021qye.1 nonsynonymous SNV exon1 c.C44T p.S15F VTAYLAFVGLLASCLGLELSRCRAK VTAYLAFVGLLAFCLGLELSRCRAK 9.0 10.0 - - 2369_12:53646663-53646663 C>T_VTAYLAFVGLLAFCLGLELSRCRAK 0.0 11:6661884-6661884 C>T 1.0 2369 MELANOMA - - - - DCHS1 NM_003737,p.D321N|ENST00000299441,p.D321N|uc001mem.1,p.D321N protein_coding uc001mem.1 nonsynonymous SNV exon2 c.G961A p.D321N AHTGLLQLERPLDFEQRRVHELVVQ AHTGLLQLERPLNFEQRRVHELVVQ 5.0 4.0 - - 2369_11:6661884-6661884 C>T_AHTGLLQLERPLNFEQRRVHELVVQ 0.0 9:100193303-100193303 G>A 1.0 4345 COLORECTAL - - - - TDRD7 ENST00000355295,p.R99H|NM_014290,p.R99H|uc004axj.3,p.R99H|uc011lux.2,p.R25H|ENST00000422139,p.R25H protein_coding, processed_transcript uc011lux.2 nonsynonymous SNV exon2 c.G74A p.R25H VARQRSSKRKTGRQVNCQMRVKKTM VARQRSSKRKTGHQVNCQMRVKKTM 7.0 10.0 - - 4345_9:100193303-100193303 G>A_VARQRSSKRKTGHQVNCQMRVKKTM 0.0 22:39909639-39909639 C>T 1.0 3879 MELANOMA - - - - MIEF1 ENST00000404569,p.R235C|uc003axy.3,p.R57C|uc003axw.3,p.R235C|ENST00000402881,p.R235C|ENST00000325301,p.R235C|uc003axx.3,p.R235C|uc010gxz.1,p.R57C|NM_019008,p.R235C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010gxz.1 nonsynonymous SNV exon7 c.C169T p.R57C TIMNVPGFFLVRRENPEYFPRGSSY TIMNVPGFFLVRCENPEYFPRGSSY 9.0 7.0 - - 3879_22:39909639-39909639 C>T_TIMNVPGFFLVRCENPEYFPRGSSY 0.0 12:62931482-62931482 T>G 1.0 4320 COLORECTAL - - - - MON2 ENST00000552738,p.L682R|ENST00000393629,p.L705R|uc010ssn.2,p.L705R|NM_001278471,p.L682R|ENST00000393632,p.L705R|NM_001278472,p.L633R|ENST00000552115,p.L705R|uc010ssm.2,p.L682R|NM_015026,p.L705R|NM_001278469,p.L705R|ENST00000546600,p.L705R|uc009zqj.3,p.L705R|uc010ssl.2,p.L633R|NM_001278470,p.L705R|ENST00000393630,p.L705R|ENST00000280379,p.L705R|uc001sre.3,p.L705R|uc001srf.3,p.L468R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ssn.2 nonsynonymous SNV exon16 c.T2114G p.L705R VLGTSWQLVLATLQHLVWILGLKPS VLGTSWQLVLATRQHLVWILGLKPS 8.0 5.0 - - 4320_12:62931482-62931482 T>G_VLGTSWQLVLATRQHLVWILGLKPS 0.0 1:37356668-37356668 T>C 0.0 4329 COLORECTAL - - - - GRIK3 ENST00000373091,p.N49D|ENST00000373093,p.N49D|uc001caz.2,p.N49D|NM_000831,p.N49D|uc001cba.1,p.N49D protein_coding, processed_transcript uc001cba.1 nonsynonymous SNV exon2 c.A145G p.N49D RIGGIFEYADGPNAQVMNAEEHAFR RIGGIFEYADGPDAQVMNAEEHAFR 1.0 8.0 - - 4329_1:37356668-37356668 T>C_RIGGIFEYADGPDAQVMNAEEHAFR 0.0 10:133058539-133058539 C>T 0.0 4298 COLORECTAL - - - - TCERG1L NM_174937,p.R280Q|uc001lkp.3,p.R280Q|ENST00000368642,p.R280Q retained_intron, protein_coding uc001lkp.3 nonsynonymous SNV exon4 c.G839A p.R280Q HFLTLAPIKIPLRTSPVSDTRTERG HFLTLAPIKIPLQTSPVSDTRTERG 1.0 10.0 - - 4298_10:133058539-133058539 C>T_HFLTLAPIKIPLQTSPVSDTRTERG 0.0 3:98073226-98073226 T>G 0.0 4346 COLORECTAL - - - - OR5K4 uc011bgv.2,p.F177V|ENST00000354924,p.F177V|NM_001005517,p.F177V protein_coding uc011bgv.2 nonsynonymous SNV exon1 c.T529G p.F177V RLTFCRSNKIHHFFCDILPLYRLSC RLTFCRSNKIHHVFCDILPLYRLSC 1.0 4.0 - - 4346_3:98073226-98073226 T>G_RLTFCRSNKIHHVFCDILPLYRLSC 0.0 X:140994634-140994634 G>C 0.0 4177 PANCREATIC - - - - MAGEC1 NM_005462,p.V482L|uc004fbt.3,p.V482L|ENST00000285879,p.V482L|uc022cfi.1,p.V141L protein_coding uc022cfi.1 nonsynonymous SNV exon1 c.G421C p.V141L FEGFPQSPLQIPVSSSSSSSTLLSL FEGFPQSPLQIPLSSSSSSSTLLSL 1.0 4.0 - - 4177_X:140994634-140994634 G>C_FEGFPQSPLQIPLSSSSSSSTLLSL 0.0 16:28493442-28493442 G>A 1.0 3919 MELANOMA - - - - CLN3 uc002dpm.3,p.A293V|ENST00000565316,p.A330V|ENST00000357857,p.A293V|ENST00000357806,p.A248V|ENST00000569430,p.A347V|ENST00000355477,p.A299V|ENST00000568224,p.A269V|uc002dpo.3,p.A347V|uc010vcv.2,p.A323V|ENST00000535392,p.A269V|uc002dpu.1,p.A245V|uc002dpq.1,p.A299V|ENST00000333496,p.A323V|uc002dpp.3,p.A347V|NM_001286110,p.A293V|uc002dps.1,p.A220V|uc002dpt.1,p.A247V|ENST00000354630,p.A330V|ENST00000359984,p.A347V|uc010bye.1,p.A330V|NM_001286105,p.A247V|ENST00000360019,p.A347V|uc010vcu.2,p.A247V|uc021tfs.1,p.A194V|uc002dpl.3,p.A269V|NM_001286109,p.A269V|NM_001042432,p.A347V|NM_000086,p.A347V|NM_001286104,p.A323V|ENST00000395653,p.A247V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021tfs.1 nonsynonymous SNV exon8 c.C581T p.A194V SSLRCCRIRFTWALALLQCLNLVFL SSLRCCRIRFTWVLALLQCLNLVFL 7.0 5.0 - - 3919_16:28493442-28493442 G>A_SSLRCCRIRFTWVLALLQCLNLVFL 0.0 16:30495230-30495230 G>A 0.0 2359 MELANOMA - - ID=COSM3817792;OCCURENCE=1(breast) - ITGAL uc002dyj.4,p.D186N|ENST00000356798,p.D269N|NM_001114380,p.D186N|ENST00000358164,p.D186N|ENST00000564118,p.D186N|NM_002209,p.D269N|uc002dyi.4,p.D269N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002dyj.4 nonsynonymous SNV exon6 c.G556A p.D186N KVLIIITDGEATDSGNIDAAKDIIR KVLIIITDGEATNSGNIDAAKDIIR 3.0 1.0 - - 2359_16:30495230-30495230 G>A_KVLIIITDGEATNSGNIDAAKDIIR 0.0 10:120085701-120085701 C>G 1.0 4258 ENDOMETRIAL - - - - FAM204A ENST00000470476,p.A170P protein_coding, processed_transcript, nonsense_mediated_decay ENST00000470476 nonsynonymous SNV exon6 c.G508C p.A170P IDQAVEEWNIEKAEELSNQLATREE IDQAVEEWNIEKPEELSNQLATREE 8.0 10.0 - - 4258_10:120085701-120085701 C>G_IDQAVEEWNIEKPEELSNQLATREE 0.0 5:140778884-140778884 C>T 1.0 3879 MELANOMA - - - - PCDHGB5 NM_032099,p.S397L|NM_018925,p.S397L|uc003lkf.2,p.S397L|uc011daw.2,p.S397L protein_coding uc011daw.2 nonsynonymous SNV exon1 c.C1190T p.S397L EVPFKIISSSKNSYKLVTDGTLDRE EVPFKIISSSKNLYKLVTDGTLDRE 5.0 3.0 - - 3879_5:140778884-140778884 C>T_EVPFKIISSSKNLYKLVTDGTLDRE 0.0 X:138684594-138684594 T>A 0.0 4245 COLORECTAL - - - - MCF2 ENST00000370576,p.R603W|ENST00000519895,p.R679W|ENST00000370578,p.R748W|uc004fav.3,p.R619W|NM_001171876,p.R679W|NM_001171879,p.R619W|ENST00000414978,p.R663W|ENST00000520602,p.R663W|NM_005369,p.R603W|NM_001171877,p.R564W|uc010nsh.2,p.R603W|NM_001171878,p.R603W|ENST00000338585,p.R619W|ENST00000536274,p.R564W|NM_001099855,p.R663W|uc004faw.2,p.R663W|uc011mwm.2,p.R564W|uc011mwo.1,p.R679W|uc004fau.3,p.R603W|ENST00000446225,p.R206W|ENST00000370573,p.R603W|uc011mwl.2,p.R580W|uc011mwn.1,p.R748W protein_coding, processed_transcript uc011mwo.1 nonsynonymous SNV exon20 c.A2035T p.R679W YCQNKPRSETIWRKYSECAFFQECQ YCQNKPRSETIWWKYSECAFFQECQ 2.0 10.0 - - 4245_X:138684594-138684594 T>A_YCQNKPRSETIWWKYSECAFFQECQ 0.0 19:22575731-22575731 A>T 0.0 4110 BILE DUCT - - ID=COSM303657,COSM303658;OCCURENCE=1(central_nervous_system),1(large_intestine) - ZNF98 uc002nqt.2,p.N102K|ENST00000593657,p.N61K|NM_001098626,p.N102K|ENST00000357774,p.N102K protein_coding, processed_transcript uc002nqt.2 nonsynonymous SNV exon4 c.T306A p.N102K FAQDLWPKQGKKNYFQKVILRTYKK FAQDLWPKQGKKKYFQKVILRTYKK 4.0 10.0 - - 4110_19:22575731-22575731 A>T_FAQDLWPKQGKKKYFQKVILRTYKK 0.0 19:49611286-49611286 G>C 1.0 4240 BREAST - - - - SNRNP70 uc002pmh.3,p.G78A|uc021uxh.1,p.G87A retained_intron, protein_coding, nonsense_mediated_decay uc021uxh.1 nonsynonymous SNV exon4 c.G260C p.G87A GSGEAAGVGSGPGGSGSARRSCVAA GSGEAAGVGSGPAGSGSARRSCVAA 10.0 4.0 - - 4240_19:49611286-49611286 G>C_GSGEAAGVGSGPAGSGSARRSCVAA 0.0 19:1063657-1063657 G>T 1.0 4234 NSCLC - - - - ABCA7 ENST00000433129,p.D1943Y|uc002lqy.3,p.D396Y|ENST00000263094,p.D1943Y|uc002lqw.4,p.D1943Y|NM_019112,p.D1943Y|ENST00000435683,p.D1805Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002lqy.3 nonsynonymous SNV exon10 c.G1186T p.D396Y KRKLATALALVGDPAVVFLDEPTTG KRKLATALALVGYPAVVFLDEPTTG 8.0 10.0 - - 4234_19:1063657-1063657 G>T_KRKLATALALVGYPAVVFLDEPTTG 0.0 1:16256061-16256061 C>T 1.0 3713 MELANOMA - - - 1 SPEN ENST00000375759,p.S1109L|uc010obp.1,p.S1068L|uc001axk.1,p.S1109L|NM_015001,p.S1109L protein_coding, processed_transcript uc010obp.1 nonsynonymous SNV exon10 c.C3203T p.S1068L ENQEVQSKKPIPSKPQLKQLQVLDD ENQEVQSKKPIPLKPQLKQLQVLDD 8.0 9.0 - - 3713_1:16256061-16256061 C>T_ENQEVQSKKPIPLKPQLKQLQVLDD 0.0 5:139494012-139494012 G>C 1.0 4126 NSCLC - - - - PURA ENST00000331327,p.K82N|NM_005859,p.K82N|uc003lfa.3,p.K82N protein_coding, processed_transcript uc003lfa.3 nonsynonymous SNV exon1 c.G246C p.K82N NKRFYLDVKQNAKGRFLKIAEVGAG NKRFYLDVKQNANGRFLKIAEVGAG 8.0 3.0 - - 4126_5:139494012-139494012 G>C_NKRFYLDVKQNANGRFLKIAEVGAG 0.0 1:55161057-55161057 T>C 1.0 4278 COLORECTAL - - - - MROH7 ENST00000339553,p.V953A|ENST00000395690,p.V953A|ENST00000409996,p.V521A|NM_001039464,p.V953A|uc010ood.1,p.V471A|uc010oog.1,p.V953A|uc001cxu.3,p.V99A|uc009vzr.1,p.V155A|ENST00000421030,p.V953A|ENST00000454855,p.V471A|NM_001291332,p.V471A|ENST00000414150,p.V953A|uc010ooe.1,p.V953A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010oog.1 nonsynonymous SNV exon15 c.T2858C p.V953A HHRGVALLARAMVQYSCQELCRILY HHRGVALLARAMAQYSCQELCRILY 5.0 10.0 - - 4278_1:55161057-55161057 T>C_HHRGVALLARAMAQYSCQELCRILY 0.0 10:122273430-122273430 C>T 1.0 3466 MELANOMA - - - - PPAPDC1A uc010qtd.2,p.S58F|uc001lev.1,p.S58F|NM_001030059,p.S58F|ENST00000541332,p.S58F|ENST00000427079,p.S58F|ENST00000369073,p.S48F|ENST00000439221,p.S58F|ENST00000398250,p.S58F|uc009xzl.1,p.S58F protein_coding, processed_transcript uc010qtd.2 nonsynonymous SNV exon3 c.C173T p.S58F SDNIPTRLMFAISFLTPLAVICVVK SDNIPTRLMFAIFFLTPLAVICVVK 7.0 5.0 - - 3466_10:122273430-122273430 C>T_SDNIPTRLMFAIFFLTPLAVICVVK 0.0 8:3038672-3038672 G>T 0.0 4245 COLORECTAL - - - - CSMD1 NM_033225,p.D1895E|ENST00000539096,p.D1895E|ENST00000542608,p.D1895E|uc003wqe.3,p.D1052E|uc011kwj.2,p.D1288E|ENST00000602723,p.D1896E|uc022aqr.1,p.D1895E|ENST00000602557,p.D1896E|ENST00000537824,p.D1895E|ENST00000400186,p.D1896E|ENST00000520002,p.D1896E retained_intron, protein_coding, processed_transcript uc022aqr.1 nonsynonymous SNV exon37 c.C5685A p.D1895E STSNQLYLHFQSDISVAAAGFHLEY STSNQLYLHFQSEISVAAAGFHLEY 3.0 1.0 - - 4245_8:3038672-3038672 G>T_STSNQLYLHFQSEISVAAAGFHLEY 0.0 5:147019323-147019323 T>C 0.0 4316 COLORECTAL - - - - JAKMIP2 NM_001282282,p.S426G|NM_014790,p.S468G|uc011dbx.2,p.S426G|ENST00000507386,p.S468G|ENST00000333010,p.S426G|uc003loq.2,p.S468G|NM_001270941,p.S468G|uc010jgo.2,p.S468G|ENST00000265272,p.S468G|NM_001270934,p.S468G|uc003lor.2,p.S468G retained_intron, protein_coding uc011dbx.2 nonsynonymous SNV exon9 c.A1276G p.S426G RTPATPDDDLDESLAAEESELRFRQ RTPATPDDDLDEGLAAEESELRFRQ 3.0 3.0 - - 4316_5:147019323-147019323 T>C_RTPATPDDDLDEGLAAEESELRFRQ 0.0 19:1979400-1979400 C>T 1.0 3879 MELANOMA - - - - CSNK1G2 uc002lul.4,p.P284L|NM_001319,p.P284L|ENST00000255641,p.P284L|uc010dsu.3,p.P236L retained_intron, protein_coding, processed_transcript uc010dsu.3 nonsynonymous SNV exon8 c.C707T p.P236L RATPIEVLCENFPEEMATYLRYVRR RATPIEVLCENFLEEMATYLRYVRR 8.0 8.0 - - 3879_19:1979400-1979400 C>T_RATPIEVLCENFLEEMATYLRYVRR 0.0 2:242738553-242738553 T>G 1.0 4317 COLORECTAL - - - - GAL3ST2 ENST00000192314,p.L35V|NM_022134,p.L35V|uc002wcj.1,p.L35V protein_coding uc002wcj.1 nonsynonymous SNV exon2 c.T103G p.L35V TLLLLAGFLHSDLELDTPLFGGQAE TLLLLAGFLHSDVELDTPLFGGQAE 9.0 4.0 - - 4317_2:242738553-242738553 T>G_TLLLLAGFLHSDVELDTPLFGGQAE 0.0 5:42719077-42719077 G>T 0.0 4129 NSCLC - - - - GHR NM_001242405,p.V490L|ENST00000537449,p.V303L|uc021xxz.1,p.V490L|ENST00000357703,p.V468L|NM_001242404,p.V490L|NM_001242403,p.V490L|uc021xxy.1,p.V490L|uc021xxv.1,p.V497L|NM_001242401,p.V490L|uc011cpq.2,p.V303L|uc021xyd.1,p.V468L|NM_001242402,p.V490L|uc021xxw.1,p.V490L|NM_000163,p.V490L|NM_001242406,p.V490L|uc003jmt.3,p.V490L|NM_001242460,p.V468L|uc003jmv.2,p.V490L|uc021xxx.1,p.V490L|NM_001242399,p.V497L|ENST00000230882,p.V490L|NM_001242400,p.V490L|uc021xya.1,p.V490L|uc003jmu.3,p.V490L protein_coding, processed_transcript, nonsense_mediated_decay uc021xyd.1 nonsynonymous SNV exon8 c.G1402T p.V468L PSSLSNIDFYAQVSDITPAGSVVLS PSSLSNIDFYAQLSDITPAGSVVLS 3.0 7.0 - - 4129_5:42719077-42719077 G>T_PSSLSNIDFYAQLSDITPAGSVVLS 0.0 7:98490149-98490149 G>A 0.0 2591 MELANOMA - - - 1 TRRAP NM_003496,p.E122K|uc003upp.3,p.E122K|ENST00000359863,p.E122K|ENST00000446306,p.E122K|NM_001244580,p.E122K|ENST00000355540,p.E122K|uc011kis.2,p.E122K retained_intron, protein_coding uc011kis.2 nonsynonymous SNV exon5 c.G364A p.E122K TKNVLSVMFRFLETENEENVLICLR TKNVLSVMFRFLKTENEENVLICLR 5.0 2.0 - - 2591_7:98490149-98490149 G>A_TKNVLSVMFRFLKTENEENVLICLR 0.0 8:95416464-95416464 G>A 1.0 3678 MELANOMA - - - - RAD54B ENST00000336148,p.S262F|NM_001205263,p.S78F|uc003ygk.3,p.S262F|NM_012415,p.S262F|uc010may.2,p.S78F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010may.2 nonsynonymous SNV exon4 c.C233T p.S78F NCKPRHDPYTPNSLVMPRPDKNHQW NCKPRHDPYTPNFLVMPRPDKNHQW 6.0 5.0 - - 3678_8:95416464-95416464 G>A_NCKPRHDPYTPNFLVMPRPDKNHQW 0.0 17:73539552-73539552 G>C 1.0 4252 COLORECTAL - - - - LLGL2 ENST00000392550,p.R15S|ENST00000577200,p.R15S|ENST00000579392,p.R15S|ENST00000578363,p.R15S|ENST00000375227,p.R15S|ENST00000578536,p.R15S|NM_004524,p.R15S|uc010dgf.1,p.R15S|uc010dgg.2,p.R15S|uc002jog.1,p.R15S|NM_001031803,p.R15S|ENST00000580925,p.R15S|ENST00000580578,p.R15S|uc002joh.3,p.R15S|NM_001015002,p.R15S|ENST00000167462,p.R15S|ENST00000581713,p.R15S|uc002joi.3,p.R15S retained_intron, protein_coding, nonsense_mediated_decay uc010dgg.2 nonsynonymous SNV exon2 c.G45C p.R15S RFLRPGHDPVRERLKRDLFQFNKTV RFLRPGHDPVRESLKRDLFQFNKTV 10.0 5.0 - - 4252_17:73539552-73539552 G>C_RFLRPGHDPVRESLKRDLFQFNKTV 0.0 9:113704334-113704334 C>T 1.0 3713 MELANOMA - - - - LPAR1 ENST00000538760,p.G55R|uc004bfc.3,p.G54R|NM_001401,p.G54R|ENST00000358883,p.G54R|uc004bfb.3,p.G54R|ENST00000374431,p.G54R|ENST00000374430,p.G54R|NM_057159,p.G54R|uc011lwn.2,p.G36R|uc004bfa.3,p.G54R|ENST00000441240,p.G54R|uc011lwm.2,p.G55R|uc011lwo.2,p.G55R|uc010mub.3,p.G54R|ENST00000541779,p.G55R protein_coding uc011lwo.2 nonsynonymous SNV exon2 c.G163A p.G55R ATEWNTVSKLVMGLGITVCIFIMLA ATEWNTVSKLVMRLGITVCIFIMLA 3.0 4.0 - - 3713_9:113704334-113704334 C>T_ATEWNTVSKLVMRLGITVCIFIMLA 0.0 12:51237706-51237706 C>T 0.0 4346 COLORECTAL - - - - TMPRSS12 uc001rwx.4,p.P90L|uc001rwy.3,p.P90L|NM_182559,p.P90L|ENST00000551456,p.P90L|ENST00000398458,p.P90L protein_coding uc001rwy.3 nonsynonymous SNV exon2 c.C269T p.P90L IIGGTEAQAGAWPWVVSLQIKYGRV IIGGTEAQAGAWLWVVSLQIKYGRV 1.0 4.0 - - 4346_12:51237706-51237706 C>T_IIGGTEAQAGAWLWVVSLQIKYGRV 0.0 X:99919837-99919837 T>C 0.0 4259 COLORECTAL - - - - SRPX2 ENST00000373004,p.L141P|NM_014467,p.L141P|uc004egb.3,p.L141P protein_coding, processed_transcript uc004egb.3 nonsynonymous SNV exon5 c.T422C p.L141P TSGTYTCTNGVLLDSRCDYSCSSGY TSGTYTCTNGVLPDSRCDYSCSSGY 7.0 3.0 - - 4259_X:99919837-99919837 T>C_TSGTYTCTNGVLPDSRCDYSCSSGY 0.0 19:20728006-20728006 G>A 1.0 4000 MELANOMA - - - - ZNF737 NM_001159293,p.H335Y|ENST00000427401,p.H335Y|uc002npa.3,p.H335Y protein_coding, nonsense_mediated_decay uc002npa.3 nonsynonymous SNV exon4 c.C1003T p.H335Y KHPSVLTTHKRIHTGEKPYKCEECG KHPSVLTTHKRIYTGEKPYKCEECG 8.0 2.0 - - 4000_19:20728006-20728006 G>A_KHPSVLTTHKRIYTGEKPYKCEECG 0.0 1:157514764-157514764 T>A 0.0 4081 COLORECTAL - - - - FCRL5 uc009wsm.3,p.D139V|ENST00000361835,p.D139V|ENST00000356953,p.D139V|NM_031281,p.D139V|uc001fqu.3,p.D139V|ENST00000368189,p.D139V|uc010phv.1,p.D139V|ENST00000368191,p.D54V|uc010phw.1,p.D54V|NM_001195388,p.D139V|ENST00000368190,p.D139V|uc001fqv.1,p.D139V protein_coding, processed_transcript uc010phw.1 nonsynonymous SNV exon3 c.A161T p.D54V AEVTLNNTIYKNDNVLAFLNKRTDF AEVTLNNTIYKNVNVLAFLNKRTDF 5.0 2.0 - - 4081_1:157514764-157514764 T>A_AEVTLNNTIYKNVNVLAFLNKRTDF 0.0 7:136938288-136938288 C>T 1.0 3795 MELANOMA - - - - PTN ENST00000348225,p.R71Q|uc003vtq.2,p.R71Q|NM_002825,p.R71Q|ENST00000393083,p.R71Q protein_coding uc003vtq.2 nonsynonymous SNV exon3 c.G212A p.R71Q SGDCGLGTREGTRTGAECKQTMKTQ SGDCGLGTREGTQTGAECKQTMKTQ 10.0 6.0 - - 3795_7:136938288-136938288 C>T_SGDCGLGTREGTQTGAECKQTMKTQ 0.0 19:17756522-17756522 G>A 0.0 4160 COLORECTAL - - - - UNC13A uc031rjw.1,p.R773W|ENST00000252773,p.R773W|ENST00000519716,p.R773W|ENST00000550896,p.R771W|NM_001080421,p.R773W|ENST00000551649,p.R773W|ENST00000428389,p.R861W|ENST00000552293,p.R773W retained_intron, protein_coding uc031rjw.1 nonsynonymous SNV exon19 c.C2317T p.R773W SDDFLGQTIIEVRTLSGEMDVWYNL SDDFLGQTIIEVWTLSGEMDVWYNL 2.0 7.0 - - 4160_19:17756522-17756522 G>A_SDDFLGQTIIEVWTLSGEMDVWYNL 0.0 9:97207274-97207274 T>G 1.0 4345 COLORECTAL - - - - HIATL1 uc011luh.2,p.V115G|NM_032558,p.V180G|ENST00000375344,p.V180G|uc004aur.3,p.V180G|ENST00000428393,p.V115G protein_coding uc011luh.2 nonsynonymous SNV exon5 c.T344G p.V115G YGWVSATFAASLVSSPAIGAYLSAS YGWVSATFAASLGSSPAIGAYLSAS 8.0 5.0 - - 4345_9:97207274-97207274 T>G_YGWVSATFAASLGSSPAIGAYLSAS 0.0 15:42174560-42174560 T>A 0.0 4037 NSCLC - - - - SPTBN5 NM_016642,p.E718D|uc001zos.4,p.E718D|ENST00000320955,p.E718D retained_intron, protein_coding uc001zos.4 nonsynonymous SNV exon11 c.A2154T p.E718D SARRPPTQPDPGERAEAVQGGWQLL SARRPPTQPDPGDRAEAVQGGWQLL 3.0 10.0 - - 4037_15:42174560-42174560 T>A_SARRPPTQPDPGDRAEAVQGGWQLL 0.0 1:201179380-201179380 T>G 0.0 4326 BREAST - - - - IGFN1 NM_001164586,p.W1787G|ENST00000335211,p.W1787G|uc001gwc.3,p.W1787G retained_intron, protein_coding, nonsense_mediated_decay uc001gwc.3 nonsynonymous SNV exon12 c.T5359G p.W1787G GSMDEAGYRKDLWAPEGIGSGSKAG GSMDEAGYRKDLGAPEGIGSGSKAG 2.0 5.0 - - 4326_1:201179380-201179380 T>G_GSMDEAGYRKDLGAPEGIGSGSKAG 0.0 14:105411707-105411707 G>A 1.0 3879 MELANOMA - - - - AHNAK2 NM_138420,p.P3361S|ENST00000333244,p.P3361S|uc001ypx.2,p.P3261S|uc010axc.1,p.P3361S retained_intron, protein_coding uc010axc.1 nonsynonymous SNV exon7 c.C10081T p.P3361S GDLKTTDLSIQLPSVDLEVQAGQVD GDLKTTDLSIQLSSVDLEVQAGQVD 4.0 5.0 - - 3879_14:105411707-105411707 G>A_GDLKTTDLSIQLSSVDLEVQAGQVD 0.0 9:32477066-32477066 T>C 1.0 4196 COLORECTAL - - - - DDX58 uc003zra.3,p.D613G|uc010mjk.1,p.D568G|NM_014314,p.D613G|ENST00000379883,p.D613G|ENST00000379882,p.D568G|ENST00000545044,p.D410G|ENST00000379868,p.D410G|uc011lnr.1,p.D410G|uc010mji.3,p.D542G|ENST00000542096,p.D542G protein_coding uc011lnr.1 nonsynonymous SNV exon12 c.A1229G p.D410G SRDPSNENPKLEDLCFILQEEYHLN SRDPSNENPKLEGLCFILQEEYHLN 8.0 4.0 - - 4196_9:32477066-32477066 T>C_SRDPSNENPKLEGLCFILQEEYHLN 0.0 3:65439012-65439012 A>C 1.0 4316 COLORECTAL - - - - MAGI1 uc003dmn.3,p.H321Q|NM_004742,p.H321Q|ENST00000472257,p.H107Q|NM_001033057,p.H321Q|ENST00000402939,p.H321Q|uc003dmo.3,p.H321Q|uc003dmr.3,p.H322Q|ENST00000463103,p.H196Q|ENST00000497477,p.H321Q|NM_015520,p.H321Q|uc003dmm.3,p.H321Q|ENST00000479287,p.H83Q|ENST00000330909,p.H321Q|ENST00000483466,p.H321Q|uc021xac.1,p.H322Q|uc003dmp.3,p.H321Q|uc010hny.2,p.H206Q retained_intron, protein_coding, processed_transcript uc021xac.1 nonsynonymous SNV exon6 c.T966G p.H322Q AYTENGEVYFIDHNTKTTSWLDPRC AYTENGEVYFIDQNTKTTSWLDPRC 10.0 7.0 - - 4316_3:65439012-65439012 A>C_AYTENGEVYFIDQNTKTTSWLDPRC 0.0 1:155172908-155172908 G>A 1.0 3713 MELANOMA - - - - THBS3 ENST00000428962,p.P112S protein_coding, processed_transcript ENST00000428962 nonsynonymous SNV exon4 c.C334T p.P112S LHSILGEGNVPDPKHHYGVSGFHEQ LHSILGEGNVPDSKHHYGVSGFHEQ 7.0 5.0 - - 3713_1:155172908-155172908 G>A_LHSILGEGNVPDSKHHYGVSGFHEQ 0.0 21:36080243-36080243 A>G 0.0 3903 MELANOMA - - - - CLIC6 uc002yuf.1,p.K496E|ENST00000349499,p.K496E|ENST00000360731,p.K514E|uc010gmt.1,p.K514E|NM_053277,p.K496E protein_coding uc010gmt.1 nonsynonymous SNV exon4 c.A1540G p.K514E VIFNVTTVDLKRKPADLQNLAPGTN VIFNVTTVDLKREPADLQNLAPGTN 1.0 8.0 - - 3903_21:36080243-36080243 A>G_VIFNVTTVDLKREPADLQNLAPGTN 0.0 7:80292314-80292314 C>A 1.0 4252 COLORECTAL - - - - CD36 ENST00000441034,p.P84T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000441034 nonsynonymous SNV exon3 c.C250A p.P84T NPQEVMMNSSCIPYLSKSICSNDPQ NPQEVMMNSSCITYLSKSICSNDPQ 7.0 9.0 - - 4252_7:80292314-80292314 C>A_NPQEVMMNSSCITYLSKSICSNDPQ 0.0 7:82997037-82997037 T>G 0.0 3919 MELANOMA - - - - SEMA3E uc003uhy.2,p.K731N|uc022agy.1,p.K671N|ENST00000427262,p.K671N|NM_012431,p.K731N|ENST00000307792,p.K731N|NM_001178129,p.K671N protein_coding, nonsense_mediated_decay uc022agy.1 nonsynonymous SNV exon17 c.A2013C p.K671N YSNFQRVEEYCEKVWCTDRKRKKLK YSNFQRVEEYCENVWCTDRKRKKLK 3.0 1.0 - - 3919_7:82997037-82997037 T>G_YSNFQRVEEYCENVWCTDRKRKKLK 0.0 X:73960365-73960365 C>T 0.0 3903 MELANOMA - - - - KIAA2022 uc004eby.3,p.E1343K|ENST00000373468,p.E1343K|ENST00000055682,p.E1343K|NM_001008537,p.E1343K protein_coding uc004eby.3 nonsynonymous SNV exon3 c.G4027A p.E1343K QRFMMASIEPLWEPMEHHGDPNIFY QRFMMASIEPLWKPMEHHGDPNIFY 1.0 10.0 - - 3903_X:73960365-73960365 C>T_QRFMMASIEPLWKPMEHHGDPNIFY 0.0 1:77094328-77094328 C>T 1.0 3784 MELANOMA - - - - ST6GALNAC3 uc010orh.1,p.P151L protein_coding, processed_transcript uc010orh.1 nonsynonymous SNV exon3 c.C452T p.P151L TGKDRTEGYRKVPYHYYEQGRDECD TGKDRTEGYRKVLYHYYEQGRDECD 5.0 2.0 - - 3784_1:77094328-77094328 C>T_TGKDRTEGYRKVLYHYYEQGRDECD 0.0 8:11565948-11565948 C>T 0.0 4266 COLORECTAL - - - - GATA4 ENST00000528027,p.R43W|uc003wuc.2,p.R43W|ENST00000532059,p.R43W|uc011kxb.1,p.R43W|ENST00000335135,p.R43W|NM_002052,p.R43W|uc011kxc.1,p.R43W|uc010lrz.1,p.R43W retained_intron, protein_coding, processed_transcript uc011kxc.1 nonsynonymous SNV exon1 c.C127T p.R43W GAASSPVYVPTPRVPSSVLGLSYLQ GAASSPVYVPTPWVPSSVLGLSYLQ 4.0 3.0 - - 4266_8:11565948-11565948 C>T_GAASSPVYVPTPWVPSSVLGLSYLQ 0.0 7:12664735-12664735 A>T 0.0 4069 PANCREATIC - - - - SCIN ENST00000445618,p.H40L|ENST00000297029,p.H287L|NM_033128,p.H40L|ENST00000341757,p.H287L|ENST00000519209,p.H40L|uc003ssn.4,p.H287L|NM_001112706,p.H287L|uc003sso.4,p.H40L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003sso.4 nonsynonymous SNV exon4 c.A119T p.H40L AMLLSEECFILDHGAAKQIFVWKGK AMLLSEECFILDLGAAKQIFVWKGK 3.0 7.0 - - 4069_7:12664735-12664735 A>T_AMLLSEECFILDLGAAKQIFVWKGK 0.0 16:72821334-72821334 C>T 1.0 3713 MELANOMA - - - 1 ZFHX3 ENST00000268489,p.R3614K|uc002fck.3,p.R3614K|ENST00000397992,p.R2700K|uc002fcl.3,p.R2700K|NM_001164766,p.R2700K|NM_006885,p.R3614K retained_intron, protein_coding uc002fcl.3 nonsynonymous SNV exon9 c.G8099A p.R2700K AAAPSSASPHASRKSWPQVVSRASA AAAPSSASPHASKKSWPQVVSRASA 5.0 2.0 - - 3713_16:72821334-72821334 C>T_AAAPSSASPHASKKSWPQVVSRASA 0.0 12:48367221-48367221 C>G 0.0 4078 GASTRIC - - - 1 COL2A1 NM_033150,p.G1409A|uc001rqu.3,p.G1478A|ENST00000337299,p.G1409A|uc001rqt.3,p.G259A|uc001rqv.3,p.G1409A|NM_001844,p.G1478A|ENST00000380518,p.G1478A retained_intron, protein_coding, processed_transcript uc001rqv.3 nonsynonymous SNV exon53 c.G4226C p.G1409A APMDIGGPEQEFGVDIGPVCFL APMDIGGPEQEFAVDIGPVCFL 1.0 6.0 - - 4078_12:48367221-48367221 C>G_APMDIGGPEQEFAVDIGPVCFL 0.0 2:175213643-175213643 T>C 1.0 4246 COLORECTAL - - - - CIR1 uc002uim.3,p.K312R|ENST00000342016,p.K312R|uc002uin.3,p.K186R|NM_004882,p.K312R retained_intron, protein_coding, nonsense_mediated_decay uc002uin.3 nonsynonymous SNV exon11 c.A557G p.K186R SGHNNSDSEEKDKSKKRKLHEELSS SGHNNSDSEEKDRSKKRKLHEELSS 10.0 9.0 - - 4246_2:175213643-175213643 T>C_SGHNNSDSEEKDRSKKRKLHEELSS 0.0 7:149129395-149129395 G>C 1.0 4244 COLORECTAL - - - - ZNF777 NM_015694,p.I656M|uc003wfv.3,p.I656M|ENST00000247930,p.I656M protein_coding uc003wfv.3 nonsynonymous SNV exon6 c.C1968G p.I656M SFSHKSSLTKHQITHTGERPYTCPE SFSHKSSLTKHQMTHTGERPYTCPE 7.0 5.0 - - 4244_7:149129395-149129395 G>C_SFSHKSSLTKHQMTHTGERPYTCPE 0.0 7:140373824-140373824 C>T 1.0 3713 MELANOMA - - - - ADCK2 uc003vvz.3,p.L232F|ENST00000072869,p.L232F|uc003vvy.1,p.L232F|NM_052853,p.L232F|ENST00000476491,p.L232F retained_intron, protein_coding uc003vvz.3 nonsynonymous SNV exon1 c.C694T p.L232F NTAFLETDSVQRLGRASCLPPFSHT NTAFLETDSVQRFGRASCLPPFSHT 7.0 9.0 - - 3713_7:140373824-140373824 C>T_NTAFLETDSVQRFGRASCLPPFSHT 0.0 5:140306979-140306979 C>A 0.0 4238 COLORECTAL - - - - PCDHAC1 uc003lig.1,p.H168N|ENST00000253807,p.H168N|ENST00000409700,p.H168N|uc003lih.2,p.H168N|NM_031882,p.H168N|NM_018898,p.H168N protein_coding uc003lih.2 nonsynonymous SNV exon1 c.C502A p.H168N NGILSYSLSPSQHFRLDMGSRVDGS NGILSYSLSPSQNFRLDMGSRVDGS 1.0 2.0 - - 4238_5:140306979-140306979 C>A_NGILSYSLSPSQNFRLDMGSRVDGS 0.0 3:9711119-9711119 G>T 1.0 4245 COLORECTAL - - - - MTMR14 NM_001077525,p.G166V|ENST00000351233,p.G166V|uc003bsa.3,p.G166V|ENST00000296003,p.G166V|ENST00000353332,p.G166V|uc003brz.3,p.G166V|uc003bsb.3,p.G166V|NM_001077526,p.G166V|NM_022485,p.G166V retained_intron, protein_coding, nonsense_mediated_decay uc003bsb.3 nonsynonymous SNV exon5 c.G497T p.G166V YGRSGYNYFFSGGADDAWADVEDVT YGRSGYNYFFSGVADDAWADVEDVT 9.0 8.0 - - 4245_3:9711119-9711119 G>T_YGRSGYNYFFSGVADDAWADVEDVT 0.0 6:114378489-114378489 G>A 0.0 4284 COLORECTAL - - ID=COSM1072326;OCCURENCE=2(endometrium),1(large_intestine) - HS3ST5 uc003pwh.4,p.R325C|uc003pwg.4,p.R325C|NM_153612,p.R325C|ENST00000312719,p.R325C|ENST00000411826,p.R325C protein_coding, processed_transcript uc003pwh.4 nonsynonymous SNV exon5 c.C973T p.R325C HPEVDPSVITKLRKFFHPFNQKFYQ HPEVDPSVITKLCKFFHPFNQKFYQ 2.0 5.0 - - 4284_6:114378489-114378489 G>A_HPEVDPSVITKLCKFFHPFNQKFYQ 0.0 10:8007211-8007211 C>T 1.0 2591 MELANOMA - - - - TAF3 NM_031923,p.L580F|ENST00000344293,p.L580F|uc010qbd.3,p.L580F protein_coding uc010qbd.3 nonsynonymous SNV exon3 c.C1738T p.L580F TGRETKYPWKEFLKEEEADPYKFKI TGRETKYPWKEFFKEEEADPYKFKI 5.0 7.0 - - 2591_10:8007211-8007211 C>T_TGRETKYPWKEFFKEEEADPYKFKI 0.0 17:56423641-56423641 G>A 1.0 4189 MELANOMA - - ID=COSM106392;OCCURENCE=1(skin) - SUPT4H1 ENST00000225504,p.A107V|ENST00000581540,p.A98V|uc002iwe.2,p.A107V|ENST00000580947,p.A107V|NM_003168,p.A107V|ENST00000577396,p.A66V retained_intron, protein_coding, nonsense_mediated_decay uc002iwe.2 nonsynonymous SNV exon5 c.C320T p.A107V QGIVRELKSRGVAYKSRDTAIKT QGIVRELKSRGVVYKSRDTAIKT 10.0 9.0 - - 4189_17:56423641-56423641 G>A_QGIVRELKSRGVVYKSRDTAIKT 0.0 3:142268377-142268377 G>A 1.0 2369 MELANOMA - - - 1 ATR ENST00000383101,p.H975Y|NM_001184,p.H1039Y|uc003eux.4,p.H1039Y|ENST00000350721,p.H1039Y retained_intron, protein_coding, nonsense_mediated_decay uc003eux.4 nonsynonymous SNV exon15 c.C3115T p.H1039Y EILINNFKYIFSHLVCSCSKDELER EILINNFKYIFSYLVCSCSKDELER 7.0 4.0 - - 2369_3:142268377-142268377 G>A_EILINNFKYIFSYLVCSCSKDELER 0.0 3:108110706-108110706 A>T 1.0 4326 BREAST - - - - MYH15 NM_014981,p.N1797K|ENST00000273353,p.N1797K|uc003dxa.1,p.N1797K retained_intron, protein_coding, processed_transcript uc003dxa.1 nonsynonymous SNV exon38 c.T5391A p.N1797K QDTIAHLERTRENMEQTITDLQKRL QDTIAHLERTREKMEQTITDLQKRL 4.0 10.0 - - 4326_3:108110706-108110706 A>T_QDTIAHLERTREKMEQTITDLQKRL 0.0 12:25398284-25398284 C>T 1.0 4298 COLORECTAL - - ID=COSM521,COSM1135366;OCCURENCE=1(salivary_gland),171(endometrium),265(ovary),20(soft_tissue),19(urinary_tract),1(kidney),2323(pancreas),15(liver),3(eye),22(prostate),321(biliary_tract),6237(large_intestine),18(breast),24(skin),58(small_intestine),25(upper_aerodigestive_tract),10(oesophagus),4(central_nervous_system),93(stomach),2(testis),19(cervix),114(haematopoietic_and_lymphoid_tissue),15(gastrointestinal_tract_(site_indeterminate)),37(thyroid),737(lung),25(peritoneum) 1 KRAS uc001rgq.1,p.G12D|ENST00000557334,p.G12D|NM_033360,p.G12D|ENST00000311936,p.G12D|ENST00000256078,p.G12D|NM_004985,p.G12D|uc001rgp.1,p.G12D|ENST00000556131,p.G12D protein_coding uc001rgq.1 nonsynonymous SNV exon2 c.G35A p.G12D MTEYKLVVVGAGGVGKSALTIQLI MTEYKLVVVGADGVGKSALTIQLI 7.0 9.0 - - 4298_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI 0.0 4:25929970-25929970 C>G 1.0 4134 NSCLC - - - - SMIM20 ENST00000506197,p.Q49E|uc003grw.4,p.Q49E|NM_001145432,p.Q49E protein_coding, processed_transcript uc003grw.4 nonsynonymous SNV exon2 c.C145G p.Q49E KKEQAINRAGIVQEDVQPPGLKVWS KKEQAINRAGIVEEDVQPPGLKVWS 8.0 2.0 - - 4134_4:25929970-25929970 C>G_KKEQAINRAGIVEEDVQPPGLKVWS 0.0 19:36276359-36276359 C>A 1.0 4317 COLORECTAL - - - - ARHGAP33 uc002obr.2,p.S639Y|uc002obv.1,p.S227Y|ENST00000378944,p.S503Y|uc002obt.2,p.S503Y|ENST00000007510,p.S639Y|NM_001172630,p.S503Y retained_intron, protein_coding, processed_transcript uc002obv.1 nonsynonymous SNV exon6 c.C680A p.S227Y DTVTLRSAKSEESLSSQASGAGLQR DTVTLRSAKSEEYLSSQASGAGLQR 9.0 8.0 - - 4317_19:36276359-36276359 C>A_DTVTLRSAKSEEYLSSQASGAGLQR 0.0 1:65325883-65325883 G>C 1.0 4281 COLORECTAL - - - 1 JAK1 NM_002227,p.F413L|uc009wam.1,p.F413L|ENST00000342505,p.F413L|uc001dbu.1,p.F413L protein_coding, processed_transcript uc009wam.1 nonsynonymous SNV exon10 c.C1239G p.F413L EALSFVSLVDGYFRLTADAHHYLCT EALSFVSLVDGYLRLTADAHHYLCT 9.0 1.0 - - 4281_1:65325883-65325883 G>C_EALSFVSLVDGYLRLTADAHHYLCT 0.0 8:2808706-2808706 C>G 0.0 4259 COLORECTAL - - - - CSMD1 uc022aqr.1,p.W3377C|ENST00000400186,p.W3201C|uc010lrg.3,p.W1269C|ENST00000602723,p.W3201C|NM_033225,p.W3377C|ENST00000537824,p.W3377C|ENST00000602557,p.W3378C|ENST00000520002,p.W3378C|uc011kwj.2,p.W2692C|ENST00000542608,p.W3200C retained_intron, protein_coding, processed_transcript uc022aqr.1 nonsynonymous SNV exon66 c.G10131C p.W3377C LGKRQPATLTVDWFNATSSKVNATF LGKRQPATLTVDCFNATSSKVNATF 3.0 9.0 - - 4259_8:2808706-2808706 C>G_LGKRQPATLTVDCFNATSSKVNATF 0.0 6:84865045-84865045 G>A 1.0 2556 MELANOMA - - - - CEP162 uc003pki.4,p.T375I|NM_014895,p.T989I|uc003pkj.4,p.T913I|ENST00000257766,p.T913I|ENST00000403245,p.T989I|NM_001286206,p.T913I|uc010kbp.3,p.T989I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010kbp.3 nonsynonymous SNV exon22 c.C2966T p.T989I EGKDEDAKKSLRTMEQQFQKMKIQY EGKDEDAKKSLRIMEQQFQKMKIQY 6.0 4.0 - - 2556_6:84865045-84865045 G>A_EGKDEDAKKSLRIMEQQFQKMKIQY 0.0 12:25398284-25398284 C>T 1.0 4071 COLORECTAL - - ID=COSM521,COSM1135366;OCCURENCE=1(salivary_gland),171(endometrium),265(ovary),20(soft_tissue),19(urinary_tract),1(kidney),2323(pancreas),15(liver),3(eye),22(prostate),321(biliary_tract),6237(large_intestine),18(breast),24(skin),58(small_intestine),25(upper_aerodigestive_tract),10(oesophagus),4(central_nervous_system),93(stomach),2(testis),19(cervix),114(haematopoietic_and_lymphoid_tissue),15(gastrointestinal_tract_(site_indeterminate)),37(thyroid),737(lung),25(peritoneum) 1 KRAS ENST00000256078,p.G12D|ENST00000556131,p.G12D|NM_033360,p.G12D|uc001rgp.1,p.G12D|ENST00000557334,p.G12D|uc001rgq.1,p.G12D|NM_004985,p.G12D|ENST00000311936,p.G12D protein_coding uc001rgq.1 nonsynonymous SNV exon2 c.G35A p.G12D MTEYKLVVVGAGGVGKSALTIQLI MTEYKLVVVGADGVGKSALTIQLI 9.0 10.0 - - 4071_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI 0.0 12:51868862-51868862 T>A 0.0 4281 COLORECTAL - - - - SLC4A8 ENST00000453097,p.S682T|ENST00000358657,p.S709T|uc001rym.4,p.S629T|NM_001258403,p.S629T|ENST00000514353,p.S629T|NM_001258401,p.S629T|uc001ryr.3,p.S682T|uc001ryn.4,p.S629T|NM_001039960,p.S682T|uc001ryv.4,p.S629T|uc001rys.2,p.S682T|uc010snk.2,p.S629T|uc010snj.2,p.S709T|ENST00000394856,p.S629T retained_intron, protein_coding, processed_transcript uc010snk.2 nonsynonymous SNV exon16 c.T1885A p.S629T SECQEMHGEFMGSACGHHGPYTPDV SECQEMHGEFMGTACGHHGPYTPDV 4.0 5.0 - - 4281_12:51868862-51868862 T>A_SECQEMHGEFMGTACGHHGPYTPDV 0.0 4:134084155-134084155 A>C 0.0 4213 COLORECTAL - - - - PCDH10 NM_032961,p.T941P|ENST00000264360,p.T941P|uc003iha.3,p.T941P retained_intron, protein_coding uc003iha.3 nonsynonymous SNV exon4 c.A2821C p.T941P AQSAGMDLFSNCTEECKALGHSDRC AQSAGMDLFSNCPEECKALGHSDRC 5.0 4.0 - - 4213_4:134084155-134084155 A>C_AQSAGMDLFSNCPEECKALGHSDRC 0.0 2:210809796-210809796 A>T 0.0 4081 COLORECTAL - - - - UNC80 NM_032504,p.S2292C|ENST00000439458,p.S2292C|ENST00000272845,p.S2287C|NM_182587,p.S2287C|uc021vvx.1,p.S2287C|uc010zjc.1,p.S2292C|uc002vdk.2,p.S1453C retained_intron, protein_coding, processed_transcript uc021vvx.1 nonsynonymous SNV exon45 c.A6859T p.S2287C LLEFPDAANNGPSKGVSAQCLFDLL LLEFPDAANNGPCKGVSAQCLFDLL 1.0 3.0 - - 4081_2:210809796-210809796 A>T_LLEFPDAANNGPCKGVSAQCLFDLL 0.0 9:111617170-111617170 C>T 0.0 4316 COLORECTAL - - - - ACTL7B NM_006686,p.M347I|ENST00000374667,p.M347I|uc004bdi.3,p.M347I protein_coding uc004bdi.3 nonsynonymous SNV exon1 c.G1041A p.M347I MAANVLLCGGCTMLDGFPERFQREL MAANVLLCGGCTILDGFPERFQREL 1.0 3.0 - - 4316_9:111617170-111617170 C>T_MAANVLLCGGCTILDGFPERFQREL 0.0 7:31855733-31855733 G>A 0.0 4301 MELANOMA - - ID=COSM1450409,COSM1450408,COSM1450407;OCCURENCE=1(large_intestine) - PDE1C NM_001191058,p.R600C|uc003tco.2,p.R600C|ENST00000321453,p.R540C|uc003tcs.3,p.R540C|uc003tcm.2,p.R540C|ENST00000396193,p.R600C|ENST00000396191,p.R540C|NM_001191059,p.R540C|NM_005020,p.R540C|NM_001191057,p.R540C|ENST00000396182,p.R540C|NM_001191056,p.R540C|uc003tcn.1,p.R540C|ENST00000396184,p.R540C|uc003tcr.3,p.R540C retained_intron, protein_coding, processed_transcript uc003tcs.3 nonsynonymous SNV exon16 c.C1618T p.R540C EEKAKKEAEEKARLAAEEQQKEMEA EEKAKKEAEEKACLAAEEQQKEMEA 5.0 4.0 - - 4301_7:31855733-31855733 G>A_EEKAKKEAEEKACLAAEEQQKEMEA 0.0 17:21207862-21207862 G>A 0.0 3713 MELANOMA - - - - MAP2K3 ENST00000361818,p.M202I|uc021tsq.1,p.M202I|ENST00000316920,p.M202I|uc002gys.3,p.M231I|NM_145109,p.M231I|ENST00000342679,p.M231I|uc021tsr.1,p.M202I|uc002gyt.3,p.M202I|NM_002756,p.M202I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021tsr.1 nonsynonymous SNV exon9 c.G606A p.M202I VAKTMDAGCKPYMAPERINPELNQK VAKTMDAGCKPYIAPERINPELNQK 6.0 4.0 - - 3713_17:21207862-21207862 G>A_VAKTMDAGCKPYIAPERINPELNQK 0.0 8:62578013-62578013 G>A 0.0 3466 MELANOMA - - - - ASPH uc011lem.2,p.P144S|ENST00000522603,p.P144S|uc011lel.2,p.P159S|ENST00000389204,p.P159S|NM_032467,p.P144S|NM_020164,p.P159S retained_intron, protein_coding, processed_transcript uc011lem.2 nonsynonymous SNV exon5 c.C430T p.P144S KIADADLSRKESPKGKKDREKEKVD KIADADLSRKESSKGKKDREKEKVD 10.0 8.0 - - 3466_8:62578013-62578013 G>A_KIADADLSRKESSKGKKDREKEKVD 0.0 X:49070706-49070706 G>C 0.0 4046 OVARIAN - - - - CACNA1F NM_001256790,p.F1153L|ENST00000323022,p.F1207L|uc031tjm.1,p.F1153L|uc004dnb.3,p.F1218L|NM_001256789,p.F1207L|NM_005183,p.F1218L|ENST00000376251,p.F1153L|ENST00000376265,p.F1218L|uc010nip.3,p.F1207L retained_intron, protein_coding, processed_transcript uc031tjm.1 nonsynonymous SNV exon30 c.C3459G p.F1153L ALAMQHYEQTAPFNYAMDILNMVFT ALAMQHYEQTAPLNYAMDILNMVFT 3.0 5.0 - - 4046_X:49070706-49070706 G>C_ALAMQHYEQTAPLNYAMDILNMVFT 0.0 2:32702595-32702595 T>A 1.0 4037 NSCLC - - - 2 BIRC6 uc010ezu.3,p.F2338I|ENST00000421745,p.F2338I|NM_016252,p.F2338I retained_intron, protein_coding, nonsense_mediated_decay uc010ezu.3 nonsynonymous SNV exon35 c.T7012A p.F2338I ERCISVVQKLVLFLLSMDFTCHADL ERCISVVQKLVLILLSMDFTCHADL 8.0 10.0 - - 4037_2:32702595-32702595 T>A_ERCISVVQKLVLILLSMDFTCHADL 0.0 10:7409670-7409670 G>A 0.0 4238 COLORECTAL - - - - SFMBT2 ENST00000379711,p.A126V|uc010qay.2,p.A126V|ENST00000379713,p.A126V|uc009xio.2,p.A126V|ENST00000397167,p.A126V|NM_001029880,p.A126V|ENST00000361972,p.A126V|uc001ijn.2,p.A126V|uc001ijo.2,p.A126V|ENST00000397160,p.A126V|NM_001018039,p.A126V protein_coding uc010qay.2 nonsynonymous SNV exon4 c.C377T p.A126V DRRADFWCDVVIADLHPVGWCTQNN DRRADFWCDVVIVDLHPVGWCTQNN 2.0 9.0 - - 4238_10:7409670-7409670 G>A_DRRADFWCDVVIVDLHPVGWCTQNN 0.0 2:1500456-1500456 C>T 0.0 4275 COLORECTAL 0.01 - ID=COSM3694892,COSM3694893;OCCURENCE=1(pancreas),1(large_intestine) - TPO uc002qwy.1,p.R109W|NM_175719,p.R712W|NM_175721,p.R769W|uc002qwu.3,p.R712W|ENST00000349624,p.R596W|uc010yip.2,p.R769W|ENST00000469607,p.R243W|NM_001206745,p.R712W|uc002qwx.3,p.R712W|ENST00000346956,p.R769W|uc010yio.2,p.R596W|ENST00000382201,p.R712W|NM_001206744,p.R769W|NM_175722,p.R596W|ENST00000422464,p.R698W|ENST00000382198,p.R596W|ENST00000345913,p.R769W|uc002qww.3,p.R769W|uc002qwr.3,p.R769W|ENST00000329066,p.R769W|NM_000547,p.R769W|ENST00000337415,p.R769W protein_coding, processed_transcript uc010yip.2 nonsynonymous SNV exon12 c.C2305T p.R769W EESGRRVLVYSCRHGYELQGREQLT EESGRRVLVYSCWHGYELQGREQLT 1.0 5.0 - - 4275_2:1500456-1500456 C>T_EESGRRVLVYSCWHGYELQGREQLT 0.0 19:52447512-52447512 C>T 1.0 4000 MELANOMA - - - - ZNF613 NM_001031721,p.H126Y|uc002pya.2,p.H90Y|uc002pxz.2,p.H126Y|ENST00000391794,p.H90Y|NM_024840,p.H90Y|ENST00000293471,p.H126Y protein_coding, processed_transcript uc002pya.2 nonsynonymous SNV exon6 c.C268T p.H90Y HQRKSDFPLRQNHDTFDLHGKILKS HQRKSDFPLRQNYDTFDLHGKILKS 6.0 3.0 - - 4000_19:52447512-52447512 C>T_HQRKSDFPLRQNYDTFDLHGKILKS 0.0 22:29877075-29877075 G>A 0.0 4298 COLORECTAL - - - - NEFH NM_021076,p.R275H|uc003afo.3,p.R275H|ENST00000310624,p.R275H protein_coding uc003afo.3 nonsynonymous SNV exon1 c.G824A p.R275H LKCDVTSALREIRAQLEGHAVQSTL LKCDVTSALREIHAQLEGHAVQSTL 5.0 2.0 - - 4298_22:29877075-29877075 G>A_LKCDVTSALREIHAQLEGHAVQSTL 0.0 7:72857104-72857104 C>G 1.0 3466 MELANOMA - - - - BAZ1B ENST00000404251,p.E1349Q|ENST00000339594,p.E1349Q|NM_032408,p.E1349Q|uc003tyc.3,p.E1349Q retained_intron, protein_coding uc003tyc.3 nonsynonymous SNV exon18 c.G4045C p.E1349Q SSRRQSLELQKCEEILHKIVKYRFS SSRRQSLELQKCQEILHKIVKYRFS 10.0 9.0 - - 3466_7:72857104-72857104 C>G_SSRRQSLELQKCQEILHKIVKYRFS 0.0 17:79173610-79173610 C>T 0.0 4258 ENDOMETRIAL - - - - CEP131 uc002jzo.1,p.G311E|NM_014984,p.G311E|ENST00000450824,p.G311E|uc010wum.1,p.G311E|ENST00000269392,p.G311E|uc002jzn.1,p.G311E|NM_001009811,p.G311E|uc002jzp.1,p.G311E|ENST00000374782,p.G311E|ENST00000575907,p.G311E protein_coding, processed_transcript uc010wum.1 nonsynonymous SNV exon9 c.G932A p.G311E AKREEQRQRSGEGTLLDLHQQKEAA AKREEQRQRSGEETLLDLHQQKEAA 8.0 3.0 - - 4258_17:79173610-79173610 C>T_AKREEQRQRSGEETLLDLHQQKEAA 0.0 1:231298819-231298819 C>T 0.0 4278 COLORECTAL - - - - TRIM67 ENST00000366653,p.A35V|ENST00000444294,p.A35V|ENST00000366652,p.A35V|uc009xfn.1,p.A35V|NM_001004342,p.A35V protein_coding uc009xfn.1 nonsynonymous SNV exon1 c.C104T p.A35V SHNVCLPCARTIAVQTPDGEQHLPQ SHNVCLPCARTIVVQTPDGEQHLPQ 1.0 6.0 - - 4278_1:231298819-231298819 C>T_SHNVCLPCARTIVVQTPDGEQHLPQ 0.0 6:15487700-15487700 C>T 1.0 3713 MELANOMA - - - - JARID2 ENST00000341776,p.S278F|ENST00000397311,p.S106F|NM_004973,p.S278F|uc011div.3,p.S106F|uc011diw.1,p.S240F|uc011diu.1,p.S142F|NM_001267040,p.S106F|ENST00000541660,p.S240F|uc003nbj.4,p.S278F protein_coding, processed_transcript uc011diw.1 nonsynonymous SNV exon5 c.C719T p.S240F SANHPAAAPSTGSSAKGLAATHHHP SANHPAAAPSTGFSAKGLAATHHHP 6.0 2.0 - - 3713_6:15487700-15487700 C>T_SANHPAAAPSTGFSAKGLAATHHHP 0.0 X:141291595-141291595 G>C 0.0 4258 ENDOMETRIAL - - - - MAGEC2 uc022cfj.1,p.S60C|NM_016249,p.S60C|uc004fbu.2,p.S60C|ENST00000247452,p.S60C protein_coding uc022cfj.1 nonsynonymous SNV exon1 c.C179G p.S60C LVFSPSSFSTSSSLILGGPEEEEVP LVFSPSSFSTSSCLILGGPEEEEVP 1.0 4.0 - - 4258_X:141291595-141291595 G>C_LVFSPSSFSTSSCLILGGPEEEEVP 0.0 15:74914482-74914482 C>T 1.0 4259 COLORECTAL - - - - CLK3 uc002ayk.4,p.R58C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002ayk.4 nonsynonymous SNV exon2 c.C172T p.R58C GRCMQRSQQSSKRSSRSVEDDKEGH GRCMQRSQQSSKCSSRSVEDDKEGH 10.0 5.0 - - 4259_15:74914482-74914482 C>T_GRCMQRSQQSSKCSSRSVEDDKEGH 0.0 19:37487722-37487722 C>T 0.0 3919 MELANOMA - - - - ZNF568 ENST00000433993,p.R245C|ENST00000444991,p.R377C|uc010efj.2,p.R181C|uc010efi.2,p.R181C|NM_001204839,p.R313C|ENST00000455427,p.R313C|uc010xtn.2,p.R313C|uc010efg.3,p.R377C|NM_001204838,p.R377C retained_intron, protein_coding uc010xtn.2 nonsynonymous SNV exon9 c.C937T p.R313C KPHKCKECGKAFRSSSQISQHQRMH KPHKCKECGKAFCSSSQISQHQRMH 3.0 8.0 - - 3919_19:37487722-37487722 C>T_KPHKCKECGKAFCSSSQISQHQRMH 0.0 8:18729235-18729235 G>A 1.0 3466 MELANOMA - - - - PSD3 ENST00000523619,p.S315F|ENST00000327040,p.S380F|ENST00000440756,p.S380F|uc003wza.3,p.S380F|NM_015310,p.S380F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003wza.3 nonsynonymous SNV exon3 c.C1139T p.S380F PSERPGTSSGTFSPVRLDESGEDEV PSERPGTSSGTFFPVRLDESGEDEV 6.0 9.0 - - 3466_8:18729235-18729235 G>A_PSERPGTSSGTFFPVRLDESGEDEV 0.0 X:132437278-132437278 G>A 1.0 3879 MELANOMA - - - - GPC4 NM_001448,p.L462F|uc011mvg.1,p.L392F|ENST00000370828,p.L462F|ENST00000535467,p.L392F|uc004exc.1,p.L462F protein_coding uc011mvg.1 nonsynonymous SNV exon8 c.C1174T p.L392F VQVDTSKPDILILRQIMALRVMTSK VQVDTSKPDILIFRQIMALRVMTSK 5.0 10.0 - - 3879_X:132437278-132437278 G>A_VQVDTSKPDILIFRQIMALRVMTSK 0.0 16:56926069-56926069 G>A 0.0 4235 COLORECTAL - - - - SLC12A3 NM_000339,p.A815T|ENST00000438926,p.A815T|uc010ccn.3,p.A814T|NM_001126107,p.A814T|ENST00000566786,p.A814T|uc002ekd.4,p.A815T retained_intron, protein_coding, processed_transcript uc010ccn.3 nonsynonymous SNV exon20 c.G2440A p.A814T ASARGARPSVSGALDPKALVKEEQA ASARGARPSVSGTLDPKALVKEEQA 1.0 10.0 - - 4235_16:56926069-56926069 G>A_ASARGARPSVSGTLDPKALVKEEQA 0.0 17:8092597-8092597 C>G 1.0 4134 NSCLC - - - - C17orf59 NM_017622,p.E288Q|ENST00000389017,p.E288Q|uc010vut.2,p.E288Q protein_coding uc010vut.2 nonsynonymous SNV exon1 c.G862C p.E288Q DRLLRGLGGAVQELTALSVGCIQTY DRLLRGLGGAVQQLTALSVGCIQTY 7.0 10.0 - - 4134_17:8092597-8092597 C>G_DRLLRGLGGAVQQLTALSVGCIQTY 0.0 7:33427607-33427607 C>T 1.0 4345 COLORECTAL - - - - BBS9 ENST00000354265,p.R621W|uc003tdr.1,p.R180W|NM_198428,p.R656W|NM_001033605,p.R651W|uc003tdq.1,p.R616W|NM_014451,p.R616W|ENST00000242067,p.R656W|uc003tdp.1,p.R651W|NM_001033604,p.R621W|uc003tds.1,p.R79W|uc003tdn.1,p.R656W|ENST00000355070,p.R651W|ENST00000350941,p.R616W|ENST00000396127,p.R621W|uc003tdo.1,p.R621W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003tds.1 nonsynonymous SNV exon6 c.C235T p.R79W EYFELIDHHFELRINGEKLEELLSE EYFELIDHHFELWINGEKLEELLSE 8.0 9.0 - - 4345_7:33427607-33427607 C>T_EYFELIDHHFELWINGEKLEELLSE 0.0 7:150325502-150325502 C>T 0.0 4158 COLORECTAL - - - - GIMAP6 NM_024711,p.G62S|NM_001244072,p.G132S|ENST00000328902,p.G62S|uc003whn.3,p.G62S|uc022apv.1,p.G132S|uc031szs.1,p.G84S protein_coding uc031szs.1 nonsynonymous SNV exon2 c.G250A p.G84S GSGKSATGNSILGRDVFESKLSTRP GSGKSATGNSILSRDVFESKLSTRP 5.0 9.0 - - 4158_7:150325502-150325502 C>T_GSGKSATGNSILSRDVFESKLSTRP 0.0 16:30762571-30762571 C>G 1.0 4320 COLORECTAL - - - - PHKG2 uc002dzl.1,p.I80M retained_intron, protein_coding, nonsense_mediated_decay uc002dzl.1 nonsynonymous SNV exon2 c.C240G p.I80M EEVREATRRETHILRQVAGHPHISE EEVREATRRETHMLRQVAGHPHISE 9.0 8.0 - - 4320_16:30762571-30762571 C>G_EEVREATRRETHMLRQVAGHPHISE 0.0 9:35548524-35548524 G>C 0.0 4186 BREAST - - - - RUSC2 uc003zww.3,p.R669T|NM_014806,p.R669T|ENST00000455600,p.R669T|ENST00000361226,p.R669T|NM_001135999,p.R669T|uc003zwx.4,p.R669T protein_coding, processed_transcript uc003zwx.4 nonsynonymous SNV exon2 c.G2006C p.R669T PANSHTQRDARARADGGGTESRPVL PANSHTQRDARATADGGGTESRPVL 2.0 7.0 - - 4186_9:35548524-35548524 G>C_PANSHTQRDARATADGGGTESRPVL 0.0 4:90169517-90169517 G>C 1.0 4126 NSCLC - - - - GPRIN3 uc021xqb.1,p.P582R|ENST00000333209,p.P582R|uc003hsm.1,p.P582R|NM_198281,p.P582R protein_coding uc021xqb.1 nonsynonymous SNV exon1 c.C1745G p.P582R ESGGTESAANPTPSPIRKNQESTLE ESGGTESAANPTRSPIRKNQESTLE 5.0 1.0 - - 4126_4:90169517-90169517 G>C_ESGGTESAANPTRSPIRKNQESTLE 0.0 5:45267221-45267221 T>C 1.0 4213 COLORECTAL - - - - HCN1 uc003jok.3,p.T585A|NM_021072,p.T585A|ENST00000303230,p.T585A protein_coding uc003jok.3 nonsynonymous SNV exon7 c.A1753G p.T585A LEEYPMMRRAFETVAIDRLDRIGKK LEEYPMMRRAFEAVAIDRLDRIGKK 3.0 3.0 - - 4213_5:45267221-45267221 T>C_LEEYPMMRRAFEAVAIDRLDRIGKK 0.0 7:8272343-8272347 CTTAT>- 1.0 4259 COLORECTAL - - - - ICA1 ENST00000265577,p.D18fs|ENST00000446305,p.D18fs|ENST00000430867,p.D18fs|NM_001276478,p.D18fs|uc003srr.4,p.D18fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003srr.4 frameshift deletion exon3 c.53_57del p.D18fs CYPWDLQDRYAQDKSVVNKMQQKYW CYPWDLQDRYAQVSCK 10.0 4.0 - - 4259_7:8272343-8272347 CTTAT>-_CYPWDLQDRYAQVSCK 0.0 X:151869812-151869812 G>A 1.0 3998 MELANOMA - - - - MAGEA6 ENST00000412733,p.E168K|ENST00000329342,p.E168K|uc004ffr.1,p.E168K|uc004ffq.1,p.E168K|ENST00000457643,p.E168K|uc022chf.1,p.E168K|NM_005363,p.E168K|NM_175868,p.E168K protein_coding uc022chf.1 nonsynonymous SNV exon1 c.G502A p.E168K DSLQLVFGIELMEVDPIGHVYIFAT DSLQLVFGIELMKVDPIGHVYIFAT 9.0 10.0 CD8 - 3998_X:151869812-151869812 G>A_DSLQLVFGIELMKVDPIGHVYIFAT 1.0 12:56088642-56088642 C>T 1.0 3795 MELANOMA - - - - ITGA7 ENST00000553804,p.D710N|ENST00000452168,p.D613N|ENST00000347027,p.D700N|NM_001144997,p.D613N|NM_001144996,p.D710N|ENST00000257880,p.D750N|uc001shh.3,p.D710N|uc001shg.3,p.D706N|ENST00000555728,p.D750N|ENST00000257879,p.D706N|ENST00000394230,p.D710N|ENST00000394229,p.D706N|uc009znx.3,p.D587N|uc010sps.2,p.D613N|NM_002206,p.D706N retained_intron, protein_coding, nonsense_mediated_decay uc010sps.2 nonsynonymous SNV exon15 c.G1837A p.D613N LPSDPAQPQADGDDAHEAQLLVMLP LPSDPAQPQADGNDAHEAQLLVMLP 8.0 9.0 - - 3795_12:56088642-56088642 C>T_LPSDPAQPQADGNDAHEAQLLVMLP 0.0 2:232135720-232135720 C>T 1.0 3879 MELANOMA - - - - ARMC9 ENST00000446447,p.S24F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000446447 nonsynonymous SNV exon2 c.C71T p.S24F TAATRSVLQLLHSTSDVVRQYMARL TAATRSVLQLLHFTSDVVRQYMARL 9.0 7.0 - - 3879_2:232135720-232135720 C>T_TAATRSVLQLLHFTSDVVRQYMARL 0.0 12:26639254-26639254 C>T 1.0 3678 MELANOMA - - - - ITPR2 uc001rhg.3,p.G1865E|NM_002223,p.G1865E|ENST00000381340,p.G1865E|uc009zjg.1,p.G16E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009zjg.1 nonsynonymous SNV exon4 c.G47A p.G16E RDSTLHLKEGMKGQLTEASSATSKA RDSTLHLKEGMKEQLTEASSATSKA 8.0 2.0 - - 3678_12:26639254-26639254 C>T_RDSTLHLKEGMKEQLTEASSATSKA 0.0 3:153994625-153994625 A>G 1.0 2556 MELANOMA - - - - DHX36 uc003ezz.4,p.S889P|ENST00000329463,p.S904P|uc010hvq.3,p.S904P|ENST00000308361,p.S889P|NM_020865,p.S918P|uc003ezy.4,p.S918P|NM_001114397,p.S904P|ENST00000496811,p.S918P|ENST00000544526,p.S904P retained_intron, protein_coding, nonsense_mediated_decay uc010hvq.3 nonsynonymous SNV exon24 c.T2710C p.S904P SPYCLLFFGGDISIQKDNDQETIAV SPYCLLFFGGDIPIQKDNDQETIAV 9.0 2.0 - - 2556_3:153994625-153994625 A>G_SPYCLLFFGGDIPIQKDNDQETIAV 0.0 4:126411160-126411160 A>C 0.0 4186 BREAST - - - 1 FAT4 NM_024582,p.K4395Q|uc003ifi.1,p.K1872Q|NM_001291303,p.K4397Q|ENST00000394329,p.K4395Q|ENST00000335110,p.K2636Q|uc003ifj.4,p.K4395Q|NM_001291285,p.K4396Q|uc011cgp.2,p.K2636Q retained_intron, protein_coding uc011cgp.2 nonsynonymous SNV exon15 c.A7906C p.K2636Q SLASISKTDPSVKIGCRGPNICASN SLASISKTDPSVQIGCRGPNICASN 1.0 7.0 - - 4186_4:126411160-126411160 A>C_SLASISKTDPSVQIGCRGPNICASN 0.0 7:87908753-87908753 G>T 0.0 4110 BILE DUCT - - - - STEAP4 uc003ujs.3,p.T447K|NM_024636,p.T447K|NM_001205316,p.T271K|uc010lek.3,p.T271K|NM_001205315,p.T447K|ENST00000380079,p.T447K|uc022agz.1,p.T447K|ENST00000301959,p.T271K protein_coding uc022agz.1 nonsynonymous SNV exon6 c.C1340A p.T447K FVLIMPCVDNTLTRIRQGWERNSKH FVLIMPCVDNTLKRIRQGWERNSKH 4.0 6.0 - - 4110_7:87908753-87908753 G>T_FVLIMPCVDNTLKRIRQGWERNSKH 0.0 7:100304776-100304776 T>C 1.0 3998 MELANOMA - - - - POP7 uc003uwh.4,p.V108A|NM_005837,p.V108A|ENST00000457480,p.V108A|uc022ais.1,p.V108A|ENST00000303151,p.V108A protein_coding uc022ais.1 nonsynonymous SNV exon1 c.T323C p.V108A LQVAANTSTVELVDELEPETDTREP LQVAANTSTVELADELEPETDTREP 7.0 6.0 - - 3998_7:100304776-100304776 T>C_LQVAANTSTVELADELEPETDTREP 0.0 14:24587723-24587723 A>G 1.0 4281 COLORECTAL - - - - DCAF11 ENST00000559115,p.Y235C|uc001wma.4,p.Y235C|uc001wlv.3,p.Y235C|ENST00000446197,p.Y235C|uc001wlw.3,p.Y235C|uc010tny.2,p.Y102C|uc001wmb.4,p.Y209C|NM_181357,p.Y209C|NM_001163484,p.Y235C|ENST00000396936,p.Y135C|NM_025230,p.Y235C|ENST00000396941,p.Y209C|uc001wly.3,p.Y191C|uc001wmc.3,p.Y135C|uc001wlz.3,p.Y135C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010tny.2 nonsynonymous SNV exon6 c.A305G p.Y102C DVAFTPDGNHFLYSSWSDYIHICNI DVAFTPDGNHFLCSSWSDYIHICNI 9.0 10.0 - - 4281_14:24587723-24587723 A>G_DVAFTPDGNHFLCSSWSDYIHICNI 0.0 12:133219844-133219844 G>A 1.0 4252 COLORECTAL - - - 1 POLE uc001ukr.1,p.S310L|NM_006231,p.S1506L|uc001uks.1,p.S1506L|ENST00000535270,p.S1479L|ENST00000320574,p.S1506L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001uks.1 nonsynonymous SNV exon35 c.C4517T p.S1506L QAHKALFGIFIPSQRRASVFVLDTV QAHKALFGIFIPLQRRASVFVLDTV 9.0 9.0 - - 4252_12:133219844-133219844 G>A_QAHKALFGIFIPLQRRASVFVLDTV 0.0 9:94538025-94538025 T>C 0.0 4160 COLORECTAL - - - - ROR2 ENST00000375708,p.K58R|uc004ark.3,p.K58R|uc004arj.2,p.K58R|NM_004560,p.K58R retained_intron, protein_coding, processed_transcript uc004ark.3 nonsynonymous SNV exon2 c.A173G p.K58R PLDGQDGPIPTLKGYFLNFLEPVNN PLDGQDGPIPTLRGYFLNFLEPVNN 5.0 4.0 - - 4160_9:94538025-94538025 T>C_PLDGQDGPIPTLRGYFLNFLEPVNN 0.0 19:40964133-40964133 G>A 1.0 3903 MELANOMA - - - - BLVRB uc002onw.2,p.S88F|ENST00000595483,p.S88F|ENST00000597870,p.S88F|NM_000713,p.S88F|ENST00000263368,p.S88F retained_intron, protein_coding, nonsense_mediated_decay uc002onw.2 nonsynonymous SNV exon3 c.C263T p.S88F GTRNDLSPTTVMSEGARNIVAAMKA GTRNDLSPTTVMFEGARNIVAAMKA 10.0 5.0 - - 3903_19:40964133-40964133 G>A_GTRNDLSPTTVMFEGARNIVAAMKA 0.0 16:83781802-83781802 C>T 0.0 3713 MELANOMA - - - - CDH13 ENST00000428848,p.S504F|NM_001220489,p.S504F|ENST00000268613,p.S590F|uc002fgx.3,p.S543F|NM_001220488,p.S590F|uc010vnt.2,p.S289F|NM_001257,p.S543F|uc010vns.2,p.S590F|uc010vnu.2,p.S504F|NM_001220490,p.S289F|ENST00000566620,p.S543F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vnu.2 nonsynonymous SNV exon10 c.C1511T p.S504F GTVDTTAVLDRESPFVDNSVYTALF GTVDTTAVLDREFPFVDNSVYTALF 3.0 1.0 - - 3713_16:83781802-83781802 C>T_GTVDTTAVLDREFPFVDNSVYTALF 0.0 19:50885412-50885412 C>T 0.0 4335 COLORECTAL - - - - NR1H2 ENST00000598168,p.T376M|ENST00000599105,p.T362M|ENST00000253727,p.T406M|ENST00000593926,p.T406M|ENST00000411902,p.T309M|ENST00000542413,p.T137M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000599105 nonsynonymous SNV exon9 c.C1085T p.T362M LQQPYVEALLSYTRIKRPQDQLRFP LQQPYVEALLSYMRIKRPQDQLRFP 7.0 5.0 - - 4335_19:50885412-50885412 C>T_LQQPYVEALLSYMRIKRPQDQLRFP 0.0 2:131674847-131674847 G>A 0.0 3903 MELANOMA - - - - ARHGEF4 ENST00000409359,p.G780R|ENST00000438985,p.G104R|uc002trz.1,p.G570R|uc010fmw.1,p.G570R retained_intron, protein_coding, processed_transcript uc010fmw.1 nonsynonymous SNV exon1 c.G1708A p.G570R RPSAQRMGLHYPGRGSAISMVSLGS RPSAQRMGLHYPRRGSAISMVSLGS 4.0 1.0 - - 3903_2:131674847-131674847 G>A_RPSAQRMGLHYPRRGSAISMVSLGS 0.0 12:57987901-57987901 C>T 1.0 3713 MELANOMA - - - - PIP4K2C ENST00000540759,p.H90Y|ENST00000550095,p.H90Y|ENST00000422156,p.H90Y|uc001sou.3,p.H90Y|NM_001146260,p.H90Y|NM_024779,p.H90Y|ENST00000354947,p.H90Y|uc001sot.3,p.H90Y|uc010srt.2,p.H90Y|NM_001146258,p.H90Y|ENST00000551772,p.H69Y protein_coding, nonsense_mediated_decay uc010srt.2 nonsynonymous SNV exon2 c.C268T p.H90Y ASSKIKVNNHLFHRENLPSHFKFKE ASSKIKVNNHLFYRENLPSHFKFKE 7.0 5.0 - - 3713_12:57987901-57987901 C>T_ASSKIKVNNHLFYRENLPSHFKFKE 0.0 9:8528768-8528768 G>A 0.0 4301 MELANOMA - - ID=COSM1686078,COSM1686081,COSM1686079,COSM1686082,COSM1686080;OCCURENCE=2(skin) - PTPRD NM_130392,p.P122S|uc003zkt.1,p.P122S|ENST00000463477,p.P122S|uc003zkq.3,p.P122S|uc003zkp.3,p.P122S|uc003zks.3,p.P122S|uc022bdj.1,p.P122S|ENST00000540109,p.P122S|ENST00000360074,p.P122S|ENST00000358503,p.P122S|ENST00000397617,p.P122S|ENST00000397606,p.P122S|NM_001040712,p.P122S|ENST00000355233,p.P122S|ENST00000537002,p.P122S|NM_001171025,p.P122S|ENST00000486161,p.P122S|NM_002839,p.P122S|ENST00000397611,p.P122S|NM_130391,p.P122S|uc003zkk.3,p.P122S|ENST00000381196,p.P122S|NM_130393,p.P122S|ENST00000356435,p.P122S|uc003zkr.3,p.P122S retained_intron, protein_coding, processed_transcript uc022bdj.1 nonsynonymous SNV exon4 c.C364T p.P122S STRLTVLREDQIPRGFPTIDMGPQL STRLTVLREDQISRGFPTIDMGPQL 4.0 8.0 - - 4301_9:8528768-8528768 G>A_STRLTVLREDQISRGFPTIDMGPQL 0.0 16:55725894-55725894 C>T 1.0 4281 COLORECTAL - - ID=COSM3818107,COSM3818108;OCCURENCE=1(breast) - SLC6A2 uc002eig.3,p.T283M|NM_001043,p.T283M|ENST00000567238,p.T178M|uc002eii.3,p.T178M|NM_001172504,p.T283M|NM_001172501,p.T283M|ENST00000414754,p.T283M|ENST00000379906,p.T283M|ENST00000568943,p.T283M|ENST00000561820,p.T283M|ENST00000219833,p.T283M|uc002eif.3,p.T283M|uc021tio.1,p.T283M|NM_001172502,p.T178M protein_coding uc021tio.1 nonsynonymous SNV exon5 c.C848T p.T283M YFVLFVLLVHGVTLPGASNGINAYL YFVLFVLLVHGVMLPGASNGINAYL 2.0 7.0 - - 4281_16:55725894-55725894 C>T_YFVLFVLLVHGVMLPGASNGINAYL 0.0 9:37746714-37746714 C>T 0.0 4095 COLORECTAL - - - - FRMPD1 ENST00000377765,p.T1562M|ENST00000539465,p.T1562M|uc004aah.1,p.T1562M|NM_014907,p.T1562M|uc004aag.1,p.T1562M protein_coding uc004aah.1 nonsynonymous SNV exon16 c.C4685T p.T1562M SVKLLARQCTALTAAVFCLTQKFRA SVKLLARQCTALMAAVFCLTQKFRA 5.0 9.0 - - 4095_9:37746714-37746714 C>T_SVKLLARQCTALMAAVFCLTQKFRA 0.0 18:9859260-9859260 G>A 0.0 3713 MELANOMA - - - - RAB31 NM_006868,p.G176R|ENST00000578921,p.G176R|uc002kog.2,p.G176R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002kog.2 nonsynonymous SNV exon7 c.G526A p.G176R SRQIPPLDPHENGNNGTIKVEKPTM SRQIPPLDPHENRNNGTIKVEKPTM 7.0 5.0 - - 3713_18:9859260-9859260 G>A_SRQIPPLDPHENRNNGTIKVEKPTM 0.0 4:56762946-56762946 C>T 1.0 3713 MELANOMA - - - - EXOC1 ENST00000346134,p.P673S|ENST00000349598,p.P658S|uc003hbe.1,p.P673S|NM_018261,p.P673S|uc003hbf.1,p.P673S|NM_178237,p.P658S|ENST00000381295,p.P673S|NM_001024924,p.P673S|uc003hbg.1,p.P658S retained_intron, protein_coding uc003hbg.1 nonsynonymous SNV exon15 c.C1972T p.P658S VKISKKSKVGILPFVAEFEEFAGLA VKISKKSKVGILSFVAEFEEFAGLA 6.0 8.0 - - 3713_4:56762946-56762946 C>T_VKISKKSKVGILSFVAEFEEFAGLA 0.0 5:56531850-56531850 G>T 1.0 3879 MELANOMA - - - - GPBP1 ENST00000264779,p.G164C|uc003jrk.4,p.G164C|uc003jrj.4,p.G164C|NM_001127235,p.G164C|ENST00000511209,p.G164C|NM_001127236,p.G164C|ENST00000538707,p.G164C|uc003jrh.4,p.G157C|NM_022913,p.G157C|ENST00000506184,p.G157C retained_intron, protein_coding uc003jrk.4 nonsynonymous SNV exon5 c.G490T p.G164C EREPNHNKSLAAGVWEYPPNPKSRA EREPNHNKSLAACVWEYPPNPKSRA 10.0 2.0 - - 3879_5:56531850-56531850 G>T_EREPNHNKSLAACVWEYPPNPKSRA 0.0 14:24437989-24437989 C>G 0.0 4186 BREAST - - - - DHRS4 NM_001282991,p.A129G|ENST00000308178,p.A111G|NM_001282989,p.A163G|ENST00000558581,p.A215G|uc001wla.3,p.A249G|uc010akz.3,p.A170G|NM_001282990,p.A170G|ENST00000397075,p.A163G|NM_021004,p.A249G|ENST00000397073,p.A152G|uc001wlb.3,p.A215G|NM_001282988,p.A215G|ENST00000559632,p.A170G|ENST00000313250,p.A249G|ENST00000397074,p.A129G|ENST00000421831,p.A197G protein_coding uc010akz.3 nonsynonymous SNV exon6 c.C509G p.A170G LRIRRLGEPEDCAGIVSFLCSEDAS LRIRRLGEPEDCGGIVSFLCSEDAS 9.0 5.0 - - 4186_14:24437989-24437989 C>G_LRIRRLGEPEDCGGIVSFLCSEDAS 0.0 1:186329430-186329430 A>G 1.0 3466 MELANOMA - - - 1 TPR uc010pop.2,p.V465A|uc001grv.3,p.V389A|NM_003292,p.V389A|ENST00000367478,p.V389A retained_intron, protein_coding, processed_transcript uc010pop.2 nonsynonymous SNV exon12 c.T1394C p.V465A AMSPTAAAVAKIVKPGMKLTELYNA AMSPTAAAVAKIAKPGMKLTELYNA 9.0 5.0 - - 3466_1:186329430-186329430 A>G_AMSPTAAAVAKIAKPGMKLTELYNA 0.0 19:36398655-36398655 G>A 0.0 4301 MELANOMA - - - - TYROBP uc002ocm.3,p.P24L|NM_003332,p.P24L|ENST00000589517,p.P24L|ENST00000585901,p.P24L|uc002ocn.3,p.P24L|ENST00000262629,p.P24L|NM_198125,p.P24L retained_intron, protein_coding, nonsense_mediated_decay uc002ocn.3 nonsynonymous SNV exon2 c.C71T p.P24L LLPLLLAVSGLRPVQAQAQSDCSCS LLPLLLAVSGLRLVQAQAQSDCSCS 10.0 2.0 - - 4301_19:36398655-36398655 G>A_LLPLLLAVSGLRLVQAQAQSDCSCS 0.0 8:69005888-69005888 G>T 0.0 4078 GASTRIC - - - 1 PREX2 ENST00000288368,p.D767Y|uc011lez.1,p.D702Y|NM_024870,p.D767Y|NM_025170,p.D767Y|uc003xxv.1,p.D767Y|uc003xxu.1,p.D767Y protein_coding, processed_transcript uc011lez.1 nonsynonymous SNV exon19 c.G2104T p.D702Y QWVYNSIESAQEDLQKSHSKPPGDE QWVYNSIESAQEYLQKSHSKPPGDE 4.0 8.0 - - 4078_8:69005888-69005888 G>T_QWVYNSIESAQEYLQKSHSKPPGDE 0.0 11:117395552-117395552 G>A 1.0 4301 MELANOMA - - - - DSCAML1 uc001pri.1,p.S166L|ENST00000321322,p.S362L|ENST00000527706,p.S92L|uc001prh.1,p.S362L|NM_020693,p.S362L protein_coding uc001pri.1 nonsynonymous SNV exon5 c.C497T p.S166L GTYICEVTNTFGSAEATGILMVIDP GTYICEVTNTFGLAEATGILMVIDP 4.0 5.0 - - 4301_11:117395552-117395552 G>A_GTYICEVTNTFGLAEATGILMVIDP 0.0 6:38750810-38750810 G>A 0.0 3795 MELANOMA 0.0005 - - - DNAH8 uc003ooe.2,p.G547S|NM_001206927,p.G764S|uc021yzh.1,p.G764S|ENST00000359357,p.G547S|ENST00000449981,p.G764S|ENST00000441566,p.G547S|ENST00000327475,p.G752S protein_coding uc021yzh.1 nonsynonymous SNV exon17 c.G2290A p.G764S FFKNSDILSSPDGKAVIRQYNKISY FFKNSDILSSPDSKAVIRQYNKISY 2.0 7.0 - - 3795_6:38750810-38750810 G>A_FFKNSDILSSPDSKAVIRQYNKISY 0.0 7:8095112-8095112 G>A 1.0 3919 MELANOMA - - - - GLCCI1 ENST00000414914,p.R107H|ENST00000223145,p.R249H|uc003srk.4,p.R249H|NM_138426,p.R249H|ENST00000430798,p.R137H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003srk.4 nonsynonymous SNV exon4 c.G746A p.R249H LRQQLQRSKQSSRHSKEKDRQSPLH LRQQLQRSKQSSHHSKEKDRQSPLH 6.0 7.0 - - 3919_7:8095112-8095112 G>A_LRQQLQRSKQSSHHSKEKDRQSPLH 0.0 7:82764847-82764847 G>T 0.0 4245 COLORECTAL - - - - PCLO uc003uhx.2,p.S673R|NM_014510,p.S673R|uc003uhv.2,p.S673R|ENST00000423517,p.S673R|NM_033026,p.S673R|ENST00000333891,p.S673R protein_coding, processed_transcript, nonsense_mediated_decay uc003uhx.2 nonsynonymous SNV exon3 c.C2019A p.S673R LKTAPVTTTSAVSKSSPQPQQTSPK LKTAPVTTTSAVRKSSPQPQQTSPK 7.0 5.0 - - 4245_7:82764847-82764847 G>T_LKTAPVTTTSAVRKSSPQPQQTSPK 0.0 3:178928067-178928067 C>A 1.0 4317 COLORECTAL - - ID=COSM18601,COSM1670714;OCCURENCE=1(large_intestine) 1 PIK3CA ENST00000263967,p.P449T|uc003fjk.3,p.P449T|NM_006218,p.P449T retained_intron, protein_coding uc003fjk.3 nonsynonymous SNV exon8 c.C1345A p.P449T VSGKMALNLWPVPHGLEDLLNPIGV VSGKMALNLWPVTHGLEDLLNPIGV 7.0 10.0 CD8 - 4317_3:178928067-178928067 C>A_VSGKMALNLWPVTHGLEDLLNPIGV 1.0 7:99445222-99445222 G>A 0.0 3998 MELANOMA 0.0005 - - - CYP3A43 ENST00000433277,p.E93K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000433277 nonsynonymous SNV exon3 c.G277A p.E93K LLSPAFTSVKFKEVRK LLSPAFTSVKFKKVRK 2.0 8.0 - - 3998_7:99445222-99445222 G>A_LLSPAFTSVKFKKVRK 0.0 4:134071984-134071984 G>A 0.0 4158 COLORECTAL - - - - PCDH10 ENST00000264360,p.R230H|uc003iha.3,p.R230H|NM_020815,p.R230H|uc003igz.3,p.R230H|NM_032961,p.R230H retained_intron, protein_coding uc003iha.3 nonsynonymous SNV exon1 c.G689A p.R230H GGGGAGLPPQQQRTGTALLTIRVLD GGGGAGLPPQQQHTGTALLTIRVLD 5.0 6.0 - - 4158_4:134071984-134071984 G>A_GGGGAGLPPQQQHTGTALLTIRVLD 0.0 20:32264633-32264633 C>T 0.0 4186 BREAST - - - - E2F1 uc002wzu.4,p.E407K|NM_005225,p.E407K|ENST00000343380,p.E407K protein_coding uc002wzu.4 nonsynonymous SNV exon7 c.G1219A p.E407K LPEEFISLSPPHEALDYHFGLEEGE LPEEFISLSPPHKALDYHFGLEEGE 8.0 6.0 - - 4186_20:32264633-32264633 C>T_LPEEFISLSPPHKALDYHFGLEEGE 0.0 2:101666939-101666939 T>G 0.0 4189 MELANOMA - - - - TBC1D8 ENST00000409318,p.T266P|NM_001102426,p.T251P|uc010fiv.3,p.T251P|ENST00000376840,p.T251P|uc010yvw.2,p.T266P retained_intron, protein_coding, processed_transcript uc010yvw.2 nonsynonymous SNV exon5 c.A796C p.T266P EVFKVMEQLADVTLRRLLDNEVFDL EVFKVMEQLADVPLRRLLDNEVFDL 6.0 2.0 - - 4189_2:101666939-101666939 T>G_EVFKVMEQLADVPLRRLLDNEVFDL 0.0 1:51767919-51767919 C>T 0.0 2556 MELANOMA - - - - TTC39A uc001cso.1,p.G366E|ENST00000262676,p.G366E protein_coding, processed_transcript uc001cso.1 nonsynonymous SNV exon11 c.G1097A p.G366E CDILRDRIDWGRGGGQERTNQRAGA CDILRDRIDWGREGGQERTNQRAGA 3.0 5.0 - - 2556_1:51767919-51767919 C>T_CDILRDRIDWGREGGQERTNQRAGA 0.0 7:33035946-33035946 C>T 1.0 3713 MELANOMA - - - 2 FKBP9 ENST00000242209,p.T404I|ENST00000538443,p.T266I|uc011kam.2,p.T172I|NM_001284341,p.T457I|ENST00000490776,p.T172I|NM_007270,p.T404I|ENST00000418354,p.T172I|ENST00000538336,p.T457I|uc011kal.2,p.T457I|uc003tdh.3,p.T404I|NM_001284343,p.T172I retained_intron, protein_coding, processed_transcript uc011kam.2 nonsynonymous SNV exon4 c.C515T p.T172I LKYHYNASLLDGTLLDSTWNLGKTY LKYHYNASLLDGILLDSTWNLGKTY 9.0 7.0 - - 3713_7:33035946-33035946 C>T_LKYHYNASLLDGILLDSTWNLGKTY 0.0 14:97326950-97326950 C>T 1.0 3775 CERVICAL - - - - VRK1 NM_003384,p.L316F|uc001yft.3,p.L316F|ENST00000216639,p.L316F retained_intron, protein_coding, processed_transcript uc001yft.3 nonsynonymous SNV exon11 c.C946T p.L316F ETVKLLDYTEKPLYENLRDILLQGL ETVKLLDYTEKPFYENLRDILLQGL 8.0 7.0 - - 3775_14:97326950-97326950 C>T_ETVKLLDYTEKPFYENLRDILLQGL 0.0 22:42606183-42606183 T>G 0.0 4317 COLORECTAL - - - - TCF20 ENST00000335626,p.K1710T|ENST00000359486,p.K1710T|uc003bck.1,p.K1710T|NM_005650,p.K1710T|NM_181492,p.K1710T|uc003bcj.1,p.K1710T protein_coding uc003bck.1 nonsynonymous SNV exon1 c.A5129C p.K1710T SVMGHLVCCLCGKWASYRNMGDLFG SVMGHLVCCLCGTWASYRNMGDLFG 9.0 3.0 - - 4317_22:42606183-42606183 T>G_SVMGHLVCCLCGTWASYRNMGDLFG 0.0 14:23816828-23816828 C>T 1.0 4284 COLORECTAL - - - - SLC22A17 ENST00000206544,p.V353I|uc001wjl.3,p.V353I|ENST00000397267,p.V353I|uc001wjm.3,p.V353I|NM_020372,p.V353I|uc010akk.3,p.V135I|ENST00000354772,p.V353I|NM_016609,p.V353I|ENST00000397260,p.V242I|NM_001289050,p.V135I retained_intron, protein_coding, processed_transcript uc010akk.3 nonsynonymous SNV exon7 c.G403A p.V135I SLLASGTAALACVFLGVTVDRFGRR SLLASGTAALACIFLGVTVDRFGRR 6.0 6.0 - - 4284_14:23816828-23816828 C>T_SLLASGTAALACIFLGVTVDRFGRR 0.0 5:79282875-79282875 G>A 1.0 4345 COLORECTAL 0.0037 - - - MTX3 ENST00000509852,p.R213W|uc003kge.4,p.R152W|uc010jah.3,p.R213W|NM_001167741,p.R152W|ENST00000512560,p.R152W|NM_001010891,p.R213W|uc010jag.3,p.R213W|ENST00000512528,p.R213W protein_coding uc010jah.3 nonsynonymous SNV exon7 c.C637T p.R213W YVFGFLAPLYKVRFPKVQLQEHLKQ YVFGFLAPLYKVWFPKVQLQEHLKQ 4.0 3.0 - - 4345_5:79282875-79282875 G>A_YVFGFLAPLYKVWFPKVQLQEHLKQ 0.0 X:26158083-26158083 G>C 0.0 4284 COLORECTAL - - - - MAGEB18 uc004dbq.2,p.M327I|uc022bub.1,p.M327I|NM_173699,p.M327I|ENST00000325250,p.M327I protein_coding uc022bub.1 nonsynonymous SNV exon1 c.G981C p.M327I QARAAARAHTAAMANARSRTTSSSF QARAAARAHTAAIANARSRTTSSSF 1.0 10.0 - - 4284_X:26158083-26158083 G>C_QARAAARAHTAAIANARSRTTSSSF 0.0 X:72433818-72433818 C>A 0.0 4126 NSCLC - - - - NAP1L2 uc004ebi.3,p.D171Y|ENST00000536638,p.D29Y|NM_021963,p.D171Y|ENST00000373517,p.D171Y protein_coding uc004ebi.3 nonsynonymous SNV exon1 c.G511T p.D171Y YEPTEEECEYKSDSEDCDDEEMCHE YEPTEEECEYKSYSEDCDDEEMCHE 1.0 10.0 - - 4126_X:72433818-72433818 C>A_YEPTEEECEYKSYSEDCDDEEMCHE 0.0 9:131355267-131355267 G>A 1.0 4180 BREAST - - - - SPTAN1 ENST00000372731,p.R1054H|NM_001130438,p.R1054H|uc004bvm.4,p.R1054H|ENST00000372739,p.R1054H|ENST00000358161,p.R1054H|NM_003127,p.R1054H|uc011mbh.2,p.R1066H|uc004bvl.4,p.R1054H protein_coding, processed_transcript uc011mbh.2 nonsynonymous SNV exon24 c.G3197A p.R1066H IALRQEQIDNQTRITKEAGSVSLRM IALRQEQIDNQTHITKEAGSVSLRM 10.0 9.0 - - 4180_9:131355267-131355267 G>A_IALRQEQIDNQTHITKEAGSVSLRM 0.0 2:203847102-203847102 G>A 1.0 4284 COLORECTAL - - - - CARF ENST00000545253,p.R578Q|ENST00000438828,p.R666Q|uc002uzp.2,p.R666Q|NM_001282912,p.R578Q|NM_001282911,p.R590Q|uc002uzo.2,p.R666Q|ENST00000402905,p.R666Q|uc010zia.1,p.R590Q|ENST00000414439,p.R564Q|uc010zic.1,p.R578Q|NM_001282910,p.R590Q|ENST00000428585,p.R590Q|NM_001104586,p.R666Q|ENST00000320443,p.R666Q|ENST00000545262,p.R590Q|uc010zib.1,p.R590Q protein_coding, processed_transcript, nonsense_mediated_decay uc010zic.1 nonsynonymous SNV exon13 c.G1733A p.R578Q VEDTGNLEGTVHRILLGDVQTIPIQ VEDTGNLEGTVHQILLGDVQTIPIQ 7.0 2.0 - - 4284_2:203847102-203847102 G>A_VEDTGNLEGTVHQILLGDVQTIPIQ 0.0 5:140574170-140574175 AGGCCG>- 0.0 4234 NSCLC - rs111745700 ID=COSM1486391;OCCURENCE=2(breast) - PCDHB10 uc003lix.3,p.682_684del|NM_018930,p.682_684del|ENST00000239446,p.682_684del protein_coding uc003lix.3 nonframeshift deletion exon1 c.2045_2050del p.682_684del YLPLPEAAPAQAQAEADLLTVYLVVA YLPLPEAAPAQAQADLLTVYLVVAL 6.0 1.0 - - 4234_5:140574170-140574175 AGGCCG>-_YLPLPEAAPAQAQADLLTVYLVVAL 0.0 17:27229914-27229914 G>A 0.0 4240 BREAST - - - - DHRS13 uc010wba.2,p.L17F|NM_144683,p.L17F|ENST00000378895,p.L17F|ENST00000426464,p.L17F|uc002hde.4,p.L17F retained_intron, protein_coding, processed_transcript uc010wba.2 nonsynonymous SNV exon1 c.C49T p.L17F LLGAGLLLGAYVLVYYNLVKAPPCG LLGAGLLLGAYVFVYYNLVKAPPCG 9.0 2.0 - - 4240_17:27229914-27229914 G>A_LLGAGLLLGAYVFVYYNLVKAPPCG 0.0 12:46244034-46244034 C>T 1.0 4301 MELANOMA - - ID=COSM1167994;OCCURENCE=1(skin) 1 ARID2 ENST00000422737,p.P561S|uc001ror.3,p.P710S|uc001rou.1,p.P44S|ENST00000444670,p.P320S|uc009zkh.1,p.P337S|NM_152641,p.P710S|uc009zkg.1,p.P166S|uc001ros.1,p.P710S|ENST00000334344,p.P710S retained_intron, protein_coding, processed_transcript uc009zkh.1 nonsynonymous SNV exon7 c.C1009T p.P337S APVTVIQSKAPIPCEVVKATVIQNS APVTVIQSKAPISCEVVKATVIQNS 8.0 4.0 - - 4301_12:46244034-46244034 C>T_APVTVIQSKAPISCEVVKATVIQNS 0.0 3:42741254-42741254 T>G 0.0 4213 COLORECTAL - - - - HHATL ENST00000310417,p.K57T|uc003clw.3,p.K57T|ENST00000457462,p.K57T|ENST00000416756,p.K57T|ENST00000417472,p.K57T|ENST00000442469,p.K57T|uc003clx.3,p.K57T|NM_020707,p.K57T|ENST00000441594,p.K57T|ENST00000455195,p.K57T retained_intron, protein_coding uc003clx.3 nonsynonymous SNV exon3 c.A170C p.K57T ESVRPGWEYIGRKMDVADFEWVMWF ESVRPGWEYIGRTMDVADFEWVMWF 3.0 6.0 - - 4213_3:42741254-42741254 T>G_ESVRPGWEYIGRTMDVADFEWVMWF 0.0 12:117723970-117723970 ->CCCCA 0.0 4316 COLORECTAL - - - - NOS1 uc001twn.2,p.A410fs|uc001twm.2,p.A410fs|NM_001204214,p.A74fs|NM_001204213,p.A74fs|ENST00000338101,p.A410fs|NM_000620,p.A410fs|uc021ren.1,p.A74fs|ENST00000317775,p.A410fs|NM_001204218,p.A410fs|uc021reo.1,p.A74fs protein_coding, processed_transcript uc021reo.1 frameshift insertion exon5 c.220_221insTGGGG p.A74fs TYQLKDTELIYGAKHAWRNASRCVG TYQLKDTELIYGVGPSTPGGMPRAVWAGSSGPSCRYSMPVTAPRPTGCSTTSVTMSSMPPTKGTSGLPSPYSPRGQTASTTSESGTPSSSATLATSSLTAPPWGTQPMCSSQRYAYSRAGNRLEAASMSCRSCFRPTAMTLSSSRFLQSWCWKFPSGTPSLSGSRTWG 1.0 1.0 - - 4316_12:117723970-117723970 ->CCCCA_TYQLKDTELIYGVGPSTPGGMPRAVWAGSSGPSCRYSMPVTAPRPTGCSTTSVTMSSMPPTKGTSGLPSPYSPRGQTASTTSESGTPSSSATLATSSLTAPPWGTQPMCSSQRYAYSRAGNRLEAASMSCRSCFRPTAMTLSSSRFLQSWCWKFPSGTPSLSGSRTWG 0.0 16:8993493-8993493 C>T 1.0 4046 OVARIAN - - - - USP7 uc010uyk.1,p.V712I|NM_003470,p.V811I|uc002czk.2,p.V795I|uc010uyj.1,p.V712I|NM_001286457,p.V795I|uc002czl.2,p.V811I|NM_001286458,p.V712I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010uyk.1 nonsynonymous SNV exon23 c.G2134A p.V712I CDKTIPNDPGFVVTLSNRMNYFQVA CDKTIPNDPGFVITLSNRMNYFQVA 9.0 6.0 - - 4046_16:8993493-8993493 C>T_CDKTIPNDPGFVITLSNRMNYFQVA 0.0 20:42089231-42089231 C>T 1.0 2369 MELANOMA - - - - SRSF6 NM_006275,p.R223C|ENST00000244020,p.R223C|uc010zwg.2,p.R223C|uc002xki.3,p.R94C protein_coding, nonsense_mediated_decay uc010zwg.2 nonsynonymous SNV exon5 c.C667T p.R223C SSRSRSRSISKSRSRSRSRSKGRSR SSRSRSRSISKSCSRSRSRSKGRSR 10.0 8.0 - - 2369_20:42089231-42089231 C>T_SSRSRSRSISKSCSRSRSRSKGRSR 0.0 7:150725677-150725677 C>G 1.0 4134 NSCLC - - - - ABCB8 uc003wik.4,p.F25L|ENST00000498578,p.F25L|ENST00000477092,p.F25L|NM_001282292,p.F25L|ENST00000477719,p.F25L|ENST00000358849,p.F25L|NM_007188,p.F25L|uc010lpx.3,p.F25L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010lpx.3 nonsynonymous SNV exon1 c.C75G p.F25L GPFPGRLLPPLRFQTFSAVRYSDGY GPFPGRLLPPLRLQTFSAVRYSDGY 7.0 6.0 - - 4134_7:150725677-150725677 C>G_GPFPGRLLPPLRLQTFSAVRYSDGY 0.0 17:78320426-78320426 C>T 1.0 3903 MELANOMA - - - 1 RNF213 ENST00000336301,p.P837L|ENST00000508628,p.P2813L|ENST00000582970,p.P2764L|NM_001256071,p.P2764L|uc021uen.2,p.P2764L retained_intron, protein_coding, processed_transcript uc021uen.2 nonsynonymous SNV exon29 c.C8291T p.P2764L VFMMVVCIELKIPLFLVGKPGSSKS VFMMVVCIELKILLFLVGKPGSSKS 10.0 8.0 - - 3903_17:78320426-78320426 C>T_VFMMVVCIELKILLFLVGKPGSSKS 0.0 5:82948397-82948397 C>T 0.0 4287 COLORECTAL - - - - HAPLN1 ENST00000503117,p.G115E|uc003kin.3,p.G116E|ENST00000274341,p.G116E|ENST00000515590,p.G116E|ENST00000504713,p.G116E|ENST00000510978,p.G116E|ENST00000508307,p.G116E|ENST00000514416,p.G116E|NM_001884,p.G116E|uc003kim.3,p.G116E protein_coding uc003kin.3 nonsynonymous SNV exon3 c.G347A p.G116E TYGGYQGRVFLKGGSDSDASLVITD TYGGYQGRVFLKEGSDSDASLVITD 2.0 10.0 - - 4287_5:82948397-82948397 C>T_TYGGYQGRVFLKEGSDSDASLVITD 0.0 19:33119731-33119731 C>T 1.0 3903 MELANOMA - - - - ANKRD27 uc002ntn.1,p.E412K|ENST00000591100,p.E106K|ENST00000306065,p.E412K|NM_032139,p.E412K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002ntn.1 nonsynonymous SNV exon14 c.G1234A p.E412K CLFKHIASGNQKEVERLLSQEDHDK CLFKHIASGNQKKVERLLSQEDHDK 6.0 3.0 - - 3903_19:33119731-33119731 C>T_CLFKHIASGNQKKVERLLSQEDHDK 0.0 12:11091682-11091682 G>A 0.0 4301 MELANOMA - - - - TAS2R14 ENST00000537503,p.S42F|uc010shi.2,p.S42F|NM_023922,p.S42F protein_coding, processed_transcript uc010shi.2 nonsynonymous SNV exon1 c.C125T p.S42F VNCIDWVKGRKISSVDRILTALAIS VNCIDWVKGRKIFSVDRILTALAIS 6.0 9.0 - - 4301_12:11091682-11091682 G>A_VNCIDWVKGRKIFSVDRILTALAIS 0.0 5:14461179-14461179 C>T 1.0 3713 MELANOMA - - - - TRIO ENST00000344204,p.S1752F|uc003jff.3,p.S1752F|ENST00000537187,p.S1752F|uc003jfh.1,p.S1401F|ENST00000512070,p.S1693F|NM_007118,p.S1752F|ENST00000513206,p.S1485F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003jfh.1 nonsynonymous SNV exon30 c.C4202T p.S1401F SSNDASPPASVASLQPHMIGAQSSP SSNDASPPASVAFLQPHMIGAQSSP 6.0 8.0 - - 3713_5:14461179-14461179 C>T_SSNDASPPASVAFLQPHMIGAQSSP 0.0 2:166848014-166848014 C>T 0.0 4281 COLORECTAL - - - - SCN1A uc021vsb.1,p.R1913H|ENST00000423058,p.R1924H|NM_001165963,p.R1924H|NM_001165964,p.R1896H|ENST00000375405,p.R1913H|NM_001202435,p.R1924H|ENST00000303395,p.R1924H|ENST00000409050,p.R1896H|uc010fpk.3,p.R1896H|NM_006920,p.R1913H|uc002udo.4,p.R1924H retained_intron, protein_coding uc021vsb.1 nonsynonymous SNV exon26 c.G5738A p.R1913H RKQEEVSAVIIQRAYRRHLLKRTVK RKQEEVSAVIIQHAYRRHLLKRTVK 1.0 4.0 - - 4281_2:166848014-166848014 C>T_RKQEEVSAVIIQHAYRRHLLKRTVK 0.0 19:22496907-22496907 C>T 0.0 3466 MELANOMA - - - - ZNF729 NM_001242680,p.H230Y|uc021urs.1,p.H230Y|ENST00000601693,p.H230Y|ENST00000357491,p.H230Y protein_coding uc021urs.1 nonsynonymous SNV exon4 c.C688T p.H230Y KSFSTLTKHKIIHTEDKPYKYKKCG KSFSTLTKHKIIYTEDKPYKYKKCG 1.0 8.0 - - 3466_19:22496907-22496907 C>T_KSFSTLTKHKIIYTEDKPYKYKKCG 0.0 14:79432748-79432748 G>T 0.0 4326 BREAST - - - - NRXN3 ENST00000335750,p.G553W|uc010asv.1,p.G678W|ENST00000554738,p.G915W|ENST00000554719,p.G553W|NM_004796,p.G553W|uc001xun.4,p.G553W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010asv.1 nonsynonymous SNV exon8 c.G2032T p.G678W DGNDFIAVELVKGYIHYVFDLGNGP DGNDFIAVELVKWYIHYVFDLGNGP 4.0 4.0 - - 4326_14:79432748-79432748 G>T_DGNDFIAVELVKWYIHYVFDLGNGP 0.0 10:119307700-119307700 A>C 1.0 4284 COLORECTAL - - - - EMX2 uc001ldh.4,p.K239T|NM_004098,p.K239T|ENST00000553456,p.K239T protein_coding, processed_transcript uc001ldh.4 nonsynonymous SNV exon3 c.A716C p.K239T GTHHINRWRIATKQASPEEIDVTSD GTHHINRWRIATTQASPEEIDVTSD 2.0 8.0 - - 4284_10:119307700-119307700 A>C_GTHHINRWRIATTQASPEEIDVTSD 0.0 19:19748851-19748851 C>A 1.0 4046 OVARIAN - - - - GMIP uc010xrb.2,p.A269S|uc010xrc.2,p.A269S|ENST00000203556,p.A269S|ENST00000587238,p.A269S|NM_001288999,p.A269S|NM_001288998,p.A269S|NM_016573,p.A269S|ENST00000445806,p.A269S|uc002nnd.3,p.A269S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010xrc.2 nonsynonymous SNV exon10 c.G805T p.A269S REEAQAKAQEAEALYQACVREANAR REEAQAKAQEAESLYQACVREANAR 7.0 9.0 - - 4046_19:19748851-19748851 C>A_REEAQAKAQEAESLYQACVREANAR 0.0 1:21106903-21106903 C>T 1.0 4213 COLORECTAL - - - - HP1BP3 uc001bea.2,p.V11I|uc001beb.3,p.V11I|uc001bdw.1,p.V11I|uc001bdy.1,p.V11I|ENST00000417710,p.V11I|ENST00000414993,p.V11I|ENST00000438032,p.V11I|ENST00000375000,p.V11I|NM_016287,p.V11I|ENST00000312239,p.V11I protein_coding, processed_transcript uc001beb.3 nonsynonymous SNV exon2 c.G31A p.V11I MATDTSQGELVHPKALPLIVGAQ MATDTSQGELIHPKALPLIVGAQ 10.0 7.0 - - 4213_1:21106903-21106903 C>T_MATDTSQGELIHPKALPLIVGAQ 0.0 11:1101090-1101090 G>A 0.0 4246 COLORECTAL - - ID=COSM428397;OCCURENCE=1(breast) - MUC2 ENST00000441003,p.V2497I protein_coding ENST00000441003 nonsynonymous SNV exon41 c.G7489A p.V2497I IICQPKRCSQKPVTHCVEDGTYLAT IICQPKRCSQKPITHCVEDGTYLAT 3.0 8.0 - - 4246_11:1101090-1101090 G>A_IICQPKRCSQKPITHCVEDGTYLAT 0.0 16:2140509-2140509 A>C 1.0 2556 MELANOMA - - - - PKD1 uc002cot.1,p.L4073R|ENST00000423118,p.L4073R|ENST00000262304,p.L4074R|uc002cos.1,p.L4074R|NM_000296,p.L4073R|NM_001009944,p.L4074R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002cot.1 nonsynonymous SNV exon45 c.T12218G p.L4073R LLVLCPGTGLSTLCPAESWHLSPLL LLVLCPGTGLSTRCPAESWHLSPLL 8.0 4.0 - - 2556_16:2140509-2140509 A>C_LLVLCPGTGLSTRCPAESWHLSPLL 0.0 2:71212240-71212240 T>A 0.0 4298 COLORECTAL - - - - ANKRD53 ENST00000360589,p.M468K|NM_001115116,p.M468K|uc002shl.4,p.M468K|ENST00000457410,p.M434K retained_intron, protein_coding uc002shl.4 nonsynonymous SNV exon6 c.T1403A p.M468K LRMLYPRVWPYRMKVPQGFYPISMR LRMLYPRVWPYRKKVPQGFYPISMR 2.0 4.0 - - 4298_2:71212240-71212240 T>A_LRMLYPRVWPYRKKVPQGFYPISMR 0.0 19:22256320-22256320 A>T 0.0 4196 COLORECTAL - - - - ZNF257 uc010ecx.3,p.K60N|uc010ecy.3,p.K28N|ENST00000600162,p.K60N|ENST00000594947,p.K60N|NM_033468,p.K60N|ENST00000594363,p.K60N protein_coding, processed_transcript, nonsense_mediated_decay uc010ecy.3 nonsynonymous SNV exon4 c.A84T p.K28N SKPDLITCLEQGKEPCNMKRHEMVA SKPDLITCLEQGNEPCNMKRHEMVA 7.0 5.0 - - 4196_19:22256320-22256320 A>T_SKPDLITCLEQGNEPCNMKRHEMVA 0.0 X:50350613-50350613 C>T 0.0 4301 MELANOMA - - - - SHROOM4 ENST00000376020,p.E1177K|ENST00000460112,p.E1061K|ENST00000289292,p.E1177K|NM_020717,p.E1177K|uc004dpe.2,p.E1177K protein_coding, processed_transcript uc004dpe.2 nonsynonymous SNV exon6 c.G3529A p.E1177K SSETSGSCALNPEEVLEQPQPLSFG SSETSGSCALNPKEVLEQPQPLSFG 6.0 9.0 - - 4301_X:50350613-50350613 C>T_SSETSGSCALNPKEVLEQPQPLSFG 0.0 1:16464527-16464527 G>A 1.0 3466 MELANOMA - - - - EPHA2 NM_004431,p.P378L|ENST00000358432,p.P378L|uc010oca.2,p.P378L|uc001aya.2,p.P378L protein_coding, processed_transcript uc010oca.2 nonsynonymous SNV exon5 c.C1133T p.P378L CEQCWPESGECGPCEASVRYSEPPH CEQCWPESGECGLCEASVRYSEPPH 7.0 2.0 - - 3466_1:16464527-16464527 G>A_CEQCWPESGECGLCEASVRYSEPPH 0.0 12:25398285-25398285 C>A 1.0 4245 COLORECTAL - - ID=COSM1140136,COSM516;OCCURENCE=15(stomach),1(central_nervous_system),8(upper_aerodigestive_tract),2(oesophagus),3(peritoneum),1776(lung),18(thyroid),17(haematopoietic_and_lymphoid_tissue),2(testis),2(cervix),4(gastrointestinal_tract_(site_indeterminate)),13(soft_tissue),34(ovary),38(endometrium),5(skin),11(breast),8(small_intestine),1(kidney),130(pancreas),4(liver),15(urinary_tract),1(adrenal_gland),1476(large_intestine),51(biliary_tract),10(prostate) 1 KRAS uc001rgq.1,p.G12C|uc001rgp.1,p.G12C|ENST00000556131,p.G12C|ENST00000557334,p.G12C|NM_004985,p.G12C|ENST00000311936,p.G12C|NM_033360,p.G12C|ENST00000256078,p.G12C protein_coding uc001rgq.1 nonsynonymous SNV exon2 c.G34T p.G12C MTEYKLVVVGAGGVGKSALTIQLI MTEYKLVVVGACGVGKSALTIQLI 7.0 10.0 - - 4245_12:25398285-25398285 C>A_MTEYKLVVVGACGVGKSALTIQLI 0.0 9:35677850-35677850 G>A 1.0 3903 MELANOMA - - - - CA9 ENST00000378357,p.E302K|uc003zxo.4,p.E302K|NM_001216,p.E302K protein_coding, processed_transcript uc003zxo.4 nonsynonymous SNV exon6 c.G904A p.E302K EQLLSRLEEIAEEGSETQVPGLDIS EQLLSRLEEIAEKGSETQVPGLDIS 4.0 10.0 - - 3903_9:35677850-35677850 G>A_EQLLSRLEEIAEKGSETQVPGLDIS 0.0 16:58619389-58619389 G>A 1.0 2369 MELANOMA - - - - CNOT1 NM_016284,p.P220L|NM_001265612,p.P220L|uc002enx.4,p.P220L|uc002enu.5,p.P220L|NM_206999,p.P220L|ENST00000317147,p.P220L|uc002env.4,p.P220L|ENST00000567188,p.P220L|ENST00000569240,p.P220L|ENST00000441024,p.P220L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002enx.4 nonsynonymous SNV exon8 c.C659T p.P220L KTLRRDFPQERCPVVLAPLLYPEKR KTLRRDFPQERCLVVLAPLLYPEKR 10.0 9.0 - - 2369_16:58619389-58619389 G>A_KTLRRDFPQERCLVVLAPLLYPEKR 0.0 10:72492109-72492109 G>T 0.0 4281 COLORECTAL - - - - ADAMTS14 NM_080722,p.G401V|ENST00000373208,p.G404V|NM_139155,p.G404V|ENST00000373207,p.G401V|uc001jrg.3,p.G404V|uc001jrh.3,p.G401V protein_coding uc001jrh.3 nonsynonymous SNV exon7 c.G1202T p.G401V GFSSAFVIAHETGHVLGMEHDGQGN GFSSAFVIAHETVHVLGMEHDGQGN 4.0 8.0 - - 4281_10:72492109-72492109 G>T_GFSSAFVIAHETVHVLGMEHDGQGN 0.0 19:3765238-3765238 C>T 1.0 3466 MELANOMA - - - - MRPL54 uc002lyq.4,p.P65S|NM_172251,p.P65S|ENST00000330133,p.P65S protein_coding uc002lyq.4 nonsynonymous SNV exon2 c.C193T p.P65S SEALKDPDVCTDPVQLTTYAMGVNI SEALKDPDVCTDSVQLTTYAMGVNI 5.0 7.0 - - 3466_19:3765238-3765238 C>T_SEALKDPDVCTDSVQLTTYAMGVNI 0.0 19:42573044-42573044 G>A 0.0 4046 OVARIAN - - - - GRIK5,ZNF574 ENST00000222339,p.E61K|uc002osk.4,p.E61K protein_coding uc002osk.4 nonsynonymous SNV exon1 c.G181A p.E61K AHRRQRMRLRGTERASLGPGRRLGD AHRRQRMRLRGTKRASLGPGRRLGD 7.0 4.0 - - 4046_19:42573044-42573044 G>A_AHRRQRMRLRGTKRASLGPGRRLGD 0.0 17:80356167-80356167 G>A 1.0 4000 MELANOMA - - - - OGFOD3 NM_024648,p.S243L|uc002ket.2,p.S243L|ENST00000313056,p.S243L|uc002keu.2,p.S243L|NM_175902,p.S243L|ENST00000329197,p.S243L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002keu.2 nonsynonymous SNV exon8 c.C728T p.S243L VDKVTYGSFDYTSLLYLSNYLEDFG VDKVTYGSFDYTLLLYLSNYLEDFG 7.0 7.0 - - 4000_17:80356167-80356167 G>A_VDKVTYGSFDYTLLLYLSNYLEDFG 0.0 7:140453125-140453125 A>C, 7:140453136-140453136 A>T 1.0 4301 MELANOMA - - ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system) 1 BRAF NM_004333,p.V600E|uc003vwc.4,p.V600E|ENST00000288602,p.V600E|ENST00000479537,p.V28E retained_intron, protein_coding, nonsense_mediated_decay uc003vwc.4 nonsynonymous SNV exon15 c.T1799A, c.T1810G p.V600E, p.W604G LTVKIGDFGLATVKSRWSGSHQFEQ LTVKIGDFGLATEKSRGSGSHQFEQ 8.0 10.0 - Additional variant within 36 nucleotides, 7:140453125-140453125 A>C PR, residue 17 W>G PR 4301_7:140453125-140453125 A>C, 7:140453136-140453136 A>T_LTVKIGDFGLATEKSRGSGSHQFEQ 0.0 21:32007751-32007751 G>A 0.0 3903 MELANOMA - - - - KRTAP20-2 uc011adg.2,p.G57R|ENST00000330798,p.G57R|NM_181616,p.G57R protein_coding uc011adg.2 nonsynonymous SNV exon1 c.G169A p.G57R GYGYGCCRPSCYGRYWSCGFY GYGYGCCRPSCYRRYWSCGFY 1.0 9.0 - - 3903_21:32007751-32007751 G>A_GYGYGCCRPSCYRRYWSCGFY 0.0 19:59025437-59025437 G>A 0.0 4078 GASTRIC - - - - ZBTB45 uc002qtf.3,p.A507V|ENST00000600990,p.A507V|ENST00000594051,p.A507V|ENST00000354590,p.A507V|NM_032792,p.A507V|uc002qtd.3,p.A507V protein_coding uc002qtf.3 nonsynonymous SNV exon3 c.C1520T p.A507V FSHRALLERHLAAHPAP FSHRALLERHLAVHPAP 5.0 8.0 - - 4078_19:59025437-59025437 G>A_FSHRALLERHLAVHPAP 0.0 6:163735867-163735867 G>A 1.0 4252 COLORECTAL - - - - PACRG ENST00000366888,p.G208R|uc003qub.3,p.G208R|NM_001080379,p.G208R|uc003quc.3,p.G208R|ENST00000366889,p.G208R|NM_001080378,p.G208R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003quc.3 nonsynonymous SNV exon5 c.G622A p.G208R VLNIFKNMNVNSGDGIDYSQQKREN VLNIFKNMNVNSRDGIDYSQQKREN 6.0 8.0 - - 4252_6:163735867-163735867 G>A_VLNIFKNMNVNSRDGIDYSQQKREN 0.0 5:136975627-136975627 G>A 1.0 4301 MELANOMA - - - - KLHL3 uc010jem.1,p.R275C|uc011cyc.2,p.R84C|uc010jel.1,p.R84C|ENST00000309755,p.R315C|uc010jek.3,p.R315C|ENST00000506491,p.R233C|uc003lbr.5,p.R233C|NM_001257195,p.R233C|ENST00000505853,p.R275C|NM_001257194,p.R283C|uc031sle.1,p.R283C|ENST00000508657,p.R283C|NM_017415,p.R315C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031sle.1 nonsynonymous SNV exon9 c.C847T p.R283C MIVVGGQAPKAIRSVECYDFEEDRW MIVVGGQAPKAICSVECYDFEEDRW 7.0 4.0 - - 4301_5:136975627-136975627 G>A_MIVVGGQAPKAICSVECYDFEEDRW 0.0 16:30977066-30977066 C>T 1.0 3919 MELANOMA - - - - SETD1A NM_014712,p.P622S|ENST00000262519,p.P622S|uc002ead.1,p.P622S protein_coding uc002ead.1 nonsynonymous SNV exon8 c.C1864T p.P622S PPPPPPPYLASLPLGYPPHQPAYLL PPPPPPPYLASLSLGYPPHQPAYLL 6.0 8.0 - - 3919_16:30977066-30977066 C>T_PPPPPPPYLASLSLGYPPHQPAYLL 0.0 12:42859010-42859010 C>T 1.0 3903 MELANOMA - - - - PRICKLE1 ENST00000345127,p.E276K|uc010skw.2,p.E276K|uc001rnl.3,p.E276K|ENST00000552240,p.E276K|ENST00000548696,p.E276K|ENST00000455697,p.E276K|NM_001144882,p.E276K|uc010skv.2,p.E276K|NM_001144881,p.E276K|uc001rnm.3,p.E276K|NM_001144883,p.E276K|ENST00000445766,p.E276K|NM_153026,p.E276K protein_coding, processed_transcript uc010skw.2 nonsynonymous SNV exon7 c.G826A p.E276K QMTYDGQHWHATEACFSCAQCKASL QMTYDGQHWHATKACFSCAQCKASL 6.0 9.0 - - 3903_12:42859010-42859010 C>T_QMTYDGQHWHATKACFSCAQCKASL 0.0 13:46708375-46708375 T>G 0.0 4129 NSCLC - - - 2 LCP1 ENST00000323076,p.N505H|uc001vay.4,p.N102H|ENST00000398576,p.N505H|NM_002298,p.N505H|ENST00000435666,p.N74H|uc010ack.3,p.N74H|uc001vba.4,p.N505H|uc001vaz.4,p.N505H protein_coding, processed_transcript uc010ack.3 nonsynonymous SNV exon3 c.A220C p.N74H ALIWQLMRRYTLNILEEIGGGQKVN ALIWQLMRRYTLHILEEIGGGQKVN 9.0 4.0 - - 4129_13:46708375-46708375 T>G_ALIWQLMRRYTLHILEEIGGGQKVN 0.0 5:178140326-178140326 T>G 0.0 4345 COLORECTAL - - - - ZNF354A ENST00000335815,p.T185P|NM_005649,p.T185P|uc003mjj.3,p.T185P protein_coding, nonsense_mediated_decay uc003mjj.3 nonsynonymous SNV exon5 c.A553C p.T185P VLIRQQILPREKTPPKCEIQGNSLK VLIRQQILPREKPPPKCEIQGNSLK 6.0 4.0 - - 4345_5:178140326-178140326 T>G_VLIRQQILPREKPPPKCEIQGNSLK 0.0 11:107224460-107224460 A>T 1.0 3713 MELANOMA - - - - CWF19L2 NM_152434,p.F625L|uc010rvp.2,p.F625L|ENST00000433523,p.F625L|ENST00000282251,p.F625L|ENST00000431778,p.F506L retained_intron, protein_coding, nonsense_mediated_decay uc010rvp.2 nonsynonymous SNV exon13 c.T1875A p.F625L NQNKLFMRMASKFMGKTDGDYYTLD NQNKLFMRMASKLMGKTDGDYYTLD 4.0 6.0 - - 3713_11:107224460-107224460 A>T_NQNKLFMRMASKLMGKTDGDYYTLD 0.0 6:152655269-152655269 C>T 1.0 4189 MELANOMA - - ID=COSM3430206,COSM1441446,COSM32658,COSM1441445,COSM3430205;OCCURENCE=1(central_nervous_system),5(large_intestine) - SYNE1 ENST00000367255,p.R4223H|uc003qot.4,p.R4152H|ENST00000448038,p.R4152H|uc003qou.4,p.R4223H|NM_033071,p.R4152H|ENST00000265368,p.R4223H|ENST00000341594,p.R4088H|NM_182961,p.R4223H|ENST00000423061,p.R4152H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003qou.4 nonsynonymous SNV exon77 c.G12668A p.R4223H INHLNDQWLDLCRQSNNLCLQREED INHLNDQWLDLCHQSNNLCLQREED 9.0 8.0 - - 4189_6:152655269-152655269 C>T_INHLNDQWLDLCHQSNNLCLQREED 0.0 12:130941188-130941188 G>T 0.0 4160 COLORECTAL - - - - RIMBP2 NM_015347,p.L54M|uc001uil.2,p.L54M|ENST00000261655,p.L54M retained_intron, protein_coding, nonsense_mediated_decay uc001uil.2 nonsynonymous SNV exon4 c.C160A p.L54M EKCRTQSEQFNLLSRDLEKFRQHAG EKCRTQSEQFNLMSRDLEKFRQHAG 4.0 7.0 - - 4160_12:130941188-130941188 G>T_EKCRTQSEQFNLMSRDLEKFRQHAG 0.0 1:229438680-229438680 C>T 1.0 4037 NSCLC - - - - RAB4A uc031psp.1,p.P100S|uc001hth.4,p.P205S|ENST00000366690,p.P205S|NM_004578,p.P205S|NM_001271998,p.P100S retained_intron, protein_coding, processed_transcript uc031psp.1 nonsynonymous SNV exon5 c.C298T p.P100S QYGDAALRQLRSPRRAQAPNAQECG QYGDAALRQLRSSRRAQAPNAQECG 8.0 10.0 - - 4037_1:229438680-229438680 C>T_QYGDAALRQLRSSRRAQAPNAQECG 0.0 3:49160445-49160445 G>A 1.0 2556 MELANOMA - - - - LAMB2 NM_002292,p.P1422L|uc003cwe.3,p.P1422L|ENST00000305544,p.P1422L|ENST00000418109,p.P1422L retained_intron, protein_coding, processed_transcript uc003cwe.3 nonsynonymous SNV exon27 c.C4265T p.P1422L CGAPGDAPCATSPCGGAGCRDEDGQ CGAPGDAPCATSLCGGAGCRDEDGQ 10.0 8.0 - - 2556_3:49160445-49160445 G>A_CGAPGDAPCATSLCGGAGCRDEDGQ 0.0 16:58580402-58580402 A>C 1.0 3919 MELANOMA - - - - CNOT1 uc002enx.4,p.L1277V|ENST00000569240,p.L1272V|NM_206999,p.L1277V|ENST00000317147,p.L1277V|uc010vik.3,p.L234V|ENST00000441024,p.L1277V|ENST00000245138,p.L128V|NM_016284,p.L1277V|ENST00000567188,p.L1272V|uc002enu.5,p.L1272V|uc002env.4,p.L1277V|NM_001265612,p.L1272V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vik.3 nonsynonymous SNV exon6 c.T700G p.L234V VLAELHQEHDLKLNLKFEIEVLCKN VLAELHQEHDLKVNLKFEIEVLCKN 9.0 8.0 - - 3919_16:58580402-58580402 A>C_VLAELHQEHDLKVNLKFEIEVLCKN 0.0 2:79971627-79971627 G>A 0.0 4301 MELANOMA - - - 2 CTNNA2 uc010ysg.2,p.E73K|ENST00000361291,p.E107K|NM_001282598,p.E107K|uc010ysh.2,p.E73K|ENST00000541047,p.E73K|uc010ysf.2,p.E73K|NM_001164883,p.E73K|ENST00000540488,p.E73K|NM_004389,p.E73K|uc010yse.2,p.E73K|ENST00000466387,p.E73K|ENST00000409971,p.E73K|ENST00000402739,p.E73K|NM_001282597,p.E73K|ENST00000496558,p.E73K retained_intron, protein_coding, processed_transcript uc010ysh.2 nonsynonymous SNV exon2 c.G217A p.E73K AASVEQATQNFLEKGEQIAKESQDL AASVEQATQNFLKKGEQIAKESQDL 4.0 8.0 - - 4301_2:79971627-79971627 G>A_AASVEQATQNFLKKGEQIAKESQDL 0.0 12:29709817-29709826 GCCCGGTTAT>- 0.0 4252 COLORECTAL - - - - TMTC1 ENST00000256062,p.H439fs|NM_001193451,p.H547fs|uc001rjc.1,p.H501fs|ENST00000552618,p.H571fs|uc001rjb.3,p.H439fs|uc001riz.3,p.H196fs|uc021qwi.1,p.H547fs|ENST00000381224,p.H501fs|uc001rja.3,p.H283fs|NM_175861,p.H439fs|ENST00000551659,p.H609fs|ENST00000539277,p.H547fs retained_intron, protein_coding, processed_transcript uc021qwi.1 frameshift deletion exon10 c.1640_1649del p.H547fs MYYQRALQLHPQHNRALFNLGNLLK MYYQRALQLHPQLFSIWGISSSPRRKRKKLSPY 4.0 7.0 - - 4252_12:29709817-29709826 GCCCGGTTAT>-_MYYQRALQLHPQLFSIWGISSSPRRKRKKLSPY 0.0 8:125570991-125570991 G>A 0.0 4275 COLORECTAL - - - - MTSS1 uc003yrj.2,p.S373L|uc011lin.1,p.S107L|ENST00000378017,p.S373L|NM_001282974,p.S373L|ENST00000395508,p.S107L retained_intron, protein_coding, processed_transcript uc011lin.1 nonsynonymous SNV exon3 c.C320T p.S107L SVSECSSPTSVSSGSTMGAWVSTEK SVSECSSPTSVSLGSTMGAWVSTEK 9.0 8.0 - - 4275_8:125570991-125570991 G>A_SVSECSSPTSVSLGSTMGAWVSTEK 0.0 2:206592669-206592669 T>C 0.0 4317 COLORECTAL - - - - NRP2 ENST00000412873,p.S349P|ENST00000540841,p.S349P|uc002vav.3,p.S349P|ENST00000360409,p.S349P|NM_003872,p.S349P|ENST00000540178,p.S349P|NM_018534,p.S349P|uc010fud.3,p.S349P|ENST00000357785,p.S349P|uc002vay.3,p.S349P|uc002vax.3,p.S349P|NM_201266,p.S349P|ENST00000272849,p.S349P|NM_201279,p.S349P|ENST00000357118,p.S349P|NM_201264,p.S349P|ENST00000417189,p.S349P|NM_201267,p.S349P|uc002vau.3,p.S349P|uc002vaw.3,p.S349P|ENST00000355117,p.S349P|uc002vat.3,p.S349P retained_intron, protein_coding, processed_transcript uc010fud.3 nonsynonymous SNV exon8 c.T1045C p.S349P TMLTAIATQGAISRETQNGYYVKSY TMLTAIATQGAIPRETQNGYYVKSY 7.0 7.0 - - 4317_2:206592669-206592669 T>C_TMLTAIATQGAIPRETQNGYYVKSY 0.0 1:173776589-173776589 G>A 1.0 3713 MELANOMA - - - - CENPL NM_033319,p.P79L|ENST00000345664,p.P79L|ENST00000356198,p.P79L|NM_001127181,p.P79L|NM_001171182,p.P79L|uc001gje.4,p.P79L|ENST00000367710,p.P79L|uc001gjg.4,p.P79L|uc001gjf.4,p.P79L protein_coding, processed_transcript uc001gjg.4 nonsynonymous SNV exon4 c.C236T p.P79L LLHKQWTLYSLTPLYKFSYSNLKEY LLHKQWTLYSLTLLYKFSYSNLKEY 5.0 8.0 CD8 - 3713_1:173776589-173776589 G>A_LLHKQWTLYSLTLLYKFSYSNLKEY 1.0 11:65838313-65838313 G>A 1.0 3678 MELANOMA - - - - PACS1 NM_018026,p.R119K|uc001ogz.1,p.R119K|uc001oha.2,p.R119K|ENST00000320580,p.R119K retained_intron, protein_coding, nonsense_mediated_decay uc001oha.2 nonsynonymous SNV exon1 c.G356A p.R119K WEVDRSSSSCVPRLFSLTLKKLVML WEVDRSSSSCVPKLFSLTLKKLVML 9.0 5.0 - - 3678_11:65838313-65838313 G>A_WEVDRSSSSCVPKLFSLTLKKLVML 0.0 1:168260616-168260616 C>T 1.0 3903 MELANOMA - - - - TBX19 ENST00000367821,p.S141F|NM_005149,p.S141F|uc001gfl.3,p.S141F|uc001gfj.4,p.S72F protein_coding, processed_transcript uc001gfl.3 nonsynonymous SNV exon2 c.C422T p.S141F PNFGAHWMKAPISFSKVKLTNKLNG PNFGAHWMKAPIFFSKVKLTNKLNG 5.0 10.0 - - 3903_1:168260616-168260616 C>T_PNFGAHWMKAPIFFSKVKLTNKLNG 0.0 3:101136519-101136519 A>C 1.0 4320 COLORECTAL - - - - SENP7 uc003duv.3,p.S101A|NM_001282802,p.S101A|ENST00000348610,p.S101A|uc003dut.3,p.S134A|uc003duu.3,p.S134A|ENST00000394094,p.S134A|NM_020654,p.S134A|ENST00000394095,p.S134A|NM_001282804,p.S101A|NM_001077203,p.S134A retained_intron, protein_coding uc003duv.3 nonsynonymous SNV exon4 c.T301G p.S101A ANLCDANKVQSDSLPSTSVDSLETC ANLCDANKVQSDALPSTSVDSLETC 6.0 2.0 - - 4320_3:101136519-101136519 A>C_ANLCDANKVQSDALPSTSVDSLETC 0.0 11:114168841-114168841 C>T 1.0 3466 MELANOMA - - - - NNMT ENST00000299964,p.S108F|ENST00000535401,p.S108F|NM_006169,p.S108F|uc001pos.1,p.S108F|uc001por.1,p.S108F retained_intron, protein_coding, processed_transcript uc001pos.1 nonsynonymous SNV exon2 c.C323T p.S108F KWLKKEPEAFDWSPVVTYVCDLEGN KWLKKEPEAFDWFPVVTYVCDLEGN 10.0 6.0 - - 3466_11:114168841-114168841 C>T_KWLKKEPEAFDWFPVVTYVCDLEGN 0.0 6:35212510-35212510 C>T 1.0 4259 COLORECTAL - - - - SCUBE3 uc003okh.1,p.R662C|uc003okf.1,p.R775C|uc003okg.1,p.R774C|NM_152753,p.R775C|ENST00000274938,p.R775C|ENST00000394681,p.R791C protein_coding uc003okh.1 nonsynonymous SNV exon18 c.C1984T p.R662C IRCAMGSYQPDFRQNFCSRCPGNTS IRCAMGSYQPDFCQNFCSRCPGNTS 5.0 10.0 - - 4259_6:35212510-35212510 C>T_IRCAMGSYQPDFCQNFCSRCPGNTS 0.0 22:26177754-26177754 C>A 0.0 3795 MELANOMA - - - - MYO18B uc010guz.1,p.N636K|uc010guy.1,p.N636K|ENST00000539302,p.N755K|ENST00000335473,p.N755K|NM_032608,p.N755K|ENST00000536101,p.N755K|uc003abz.1,p.N755K|ENST00000407587,p.N755K|uc011akb.1,p.N268K|uc003aca.1,p.N636K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011akb.1 nonsynonymous SNV exon6 c.C804A p.N268K KSRVARQPEGESNFLVFSQMLAGLD KSRVARQPEGESKFLVFSQMLAGLD 2.0 1.0 - - 3795_22:26177754-26177754 C>A_KSRVARQPEGESKFLVFSQMLAGLD 0.0 19:18233540-18233540 C>G 1.0 4335 COLORECTAL - - - - MAST3 NM_015016,p.N97K|ENST00000262811,p.N97K|uc002nhz.4,p.N97K retained_intron, protein_coding uc002nhz.4 nonsynonymous SNV exon5 c.C291G p.N97K SLASLPSSGYGTNTPSSTLSSSSSS SLASLPSSGYGTKTPSSTLSSSSSS 7.0 7.0 - - 4335_19:18233540-18233540 C>G_SLASLPSSGYGTKTPSSTLSSSSSS 0.0 4:146560334-146560334 G>A 0.0 4345 COLORECTAL - - ID=COSM367366;OCCURENCE=1(lung) - MMAA ENST00000511969,p.G15S|NM_172250,p.G15S|ENST00000281317,p.G15S|uc003ikh.4,p.G15S retained_intron, protein_coding, nonsense_mediated_decay uc003ikh.4 nonsynonymous SNV exon2 c.G43A p.G15S MLLPHPHQHFLKGLLRAPFRCYHFI MLLPHPHQHFLKSLLRAPFRCYHFI 6.0 8.0 - - 4345_4:146560334-146560334 G>A_MLLPHPHQHFLKSLLRAPFRCYHFI 0.0 9:37707498-37707498 G>T 0.0 4046 OVARIAN - - - - FRMPD1 uc004aah.1,p.D63Y|ENST00000377765,p.D63Y|NM_014907,p.D63Y|uc004aag.1,p.D63Y|ENST00000539465,p.D63Y protein_coding uc004aah.1 nonsynonymous SNV exon3 c.G187T p.D63Y LIPVRHTVKIDKDTLLQDYGFHISE LIPVRHTVKIDKYTLLQDYGFHISE 4.0 4.0 - - 4046_9:37707498-37707498 G>T_LIPVRHTVKIDKYTLLQDYGFHISE 0.0 16:223483-223483 T>C 0.0 4346 COLORECTAL - - - - HBA2 ENST00000397806,p.C73R|ENST00000251595,p.C105R|NM_000517,p.C105R|uc002cfv.4,p.C105R retained_intron, protein_coding uc002cfv.4 nonsynonymous SNV exon3 c.T313C p.C105R RVDPVNFKLLSHCLLVTLAAHLPAE RVDPVNFKLLSHRLLVTLAAHLPAE 10.0 5.0 - - 4346_16:223483-223483 T>C_RVDPVNFKLLSHRLLVTLAAHLPAE 0.0 19:14269259-14269259 C>T 1.0 3879 MELANOMA - - - - LPHN1 ENST00000361434,p.G752E|uc010xno.2,p.G752E|ENST00000340736,p.G757E|uc010xnn.2,p.G757E|NM_014921,p.G752E|NM_001008701,p.G757E retained_intron, protein_coding, processed_transcript uc010xno.2 nonsynonymous SNV exon12 c.G2255A p.G752E VKLAGEAGPGGPGGASLVVNSQVIA VKLAGEAGPGGPEGASLVVNSQVIA 5.0 5.0 - - 3879_19:14269259-14269259 C>T_VKLAGEAGPGGPEGASLVVNSQVIA 0.0 3:184100451-184100451 G>A 0.0 4037 NSCLC - - - - CHRD ENST00000204604,p.G291S|ENST00000348986,p.G291S|NM_003741,p.G291S|uc003fov.3,p.G291S|ENST00000420973,p.G291S|uc003fox.3,p.G291S|ENST00000450923,p.G291S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003fox.3 nonsynonymous SNV exon8 c.G871A p.G291S AAETFSAILTLEGPPQQGVGGITLL AAETFSAILTLESPPQQGVGGITLL 5.0 10.0 - - 4037_3:184100451-184100451 G>A_AAETFSAILTLESPPQQGVGGITLL 0.0 3:124732616-124732616 G>A 1.0 2369 MELANOMA - - - - HEG1 uc003ehs.4,p.H603Y|uc011bke.2,p.H703Y|NM_020733,p.H603Y|ENST00000311127,p.H603Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bke.2 nonsynonymous SNV exon7 c.C2107T p.H703Y SNSSHSEYSSFFHAQTERSNISSYD SNSSHSEYSSFFYAQTERSNISSYD 6.0 6.0 - - 2369_3:124732616-124732616 G>A_SNSSHSEYSSFFYAQTERSNISSYD 0.0 17:44064433-44064433 G>A 1.0 3903 MELANOMA - - - - MAPT ENST00000415613,p.G385E|NM_001123066,p.G385E|ENST00000262410,p.G385E|uc010dau.3,p.G385E|NM_016835,p.G385E|ENST00000344290,p.G385E|ENST00000571987,p.G385E|uc002ijr.4,p.G385E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010dau.3 nonsynonymous SNV exon7 c.G1154A p.G385E QLKARMVSKSKDGTGSDDKKAKTST QLKARMVSKSKDETGSDDKKAKTST 6.0 4.0 - - 3903_17:44064433-44064433 G>A_QLKARMVSKSKDETGSDDKKAKTST 0.0 X:32381009-32381009 A>C 0.0 4317 COLORECTAL - - - - DMD uc004dda.1,p.L1741V|NM_004009,p.L1737V|uc004ddb.1,p.L1733V|NM_004012,p.L397V|uc004dcx.2,p.L400V|ENST00000357033,p.L1741V|uc004dcw.2,p.L397V|NM_004011,p.L400V|NM_000109,p.L1733V|NM_004006,p.L1741V|ENST00000378677,p.L1737V|uc004dcy.1,p.L1737V|NM_004010,p.L1618V|uc004dcz.2,p.L1618V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004ddb.1 nonsynonymous SNV exon37 c.T5197G p.L1733V PKVDSTRDQAANLMANRGDHCRKLV PKVDSTRDQAANVMANRGDHCRKLV 6.0 3.0 - - 4317_X:32381009-32381009 A>C_PKVDSTRDQAANVMANRGDHCRKLV 0.0 5:64766720-64766720 C>A 0.0 2591 MELANOMA - - - - ADAMTS6 ENST00000464680,p.W116L|uc003jtp.3,p.W116L|NM_197941,p.W116L|ENST00000381052,p.W116L|ENST00000536360,p.W116L|ENST00000381055,p.W116L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003jtp.3 nonsynonymous SNV exon3 c.G347T p.W116L TDFVSKHFTVEYWGKDGPQWKHDFL TDFVSKHFTVEYLGKDGPQWKHDFL 1.0 5.0 - - 2591_5:64766720-64766720 C>A_TDFVSKHFTVEYLGKDGPQWKHDFL 0.0 10:51464832-51464832 G>A 0.0 4081 COLORECTAL - - ID=COSM117574;OCCURENCE=1(ovary) - AGAP7P uc001jio.4,p.R542W|NM_001077685,p.R542W|ENST00000374095,p.R542W protein_coding uc001jio.4 nonsynonymous SNV exon7 c.C1624T p.R542W KPTEKSTREEKERWIRSKYEEKLFL KPTEKSTREEKEWWIRSKYEEKLFL 5.0 8.0 - - 4081_10:51464832-51464832 G>A_KPTEKSTREEKEWWIRSKYEEKLFL 0.0 17:40940365-40940365 G>A 1.0 3713 MELANOMA - - - - WNK4 uc002ibk.1,p.M432I|NM_032387,p.M660I|uc002ibj.3,p.M660I|ENST00000246914,p.M660I|uc010wgx.2,p.M324I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wgx.2 nonsynonymous SNV exon9 c.G972A p.M324I SGLSDVGEGMGQMRRPPGRNLRRRP SGLSDVGEGMGQIRRPPGRNLRRRP 7.0 10.0 - - 3713_17:40940365-40940365 G>A_SGLSDVGEGMGQIRRPPGRNLRRRP 0.0 19:44933212-44933212 G>A 0.0 2556 MELANOMA 0.0018 - - - ZNF229 ENST00000291187,p.R576W|ENST00000588931,p.R582W|uc010ejk.1,p.R236W|uc002oze.1,p.R582W|uc010ejl.1,p.R576W|NM_014518,p.R582W|NM_001278510,p.R576W protein_coding, processed_transcript, nonsense_mediated_decay uc010ejl.1 nonsynonymous SNV exon6 c.C1726T p.R576W KPYKCSECGKGFRRNSDLHSHQRVH KPYKCSECGKGFWRNSDLHSHQRVH 5.0 4.0 - - 2556_19:44933212-44933212 G>A_KPYKCSECGKGFWRNSDLHSHQRVH 0.0 1:237875123-237875123 T>G 0.0 4326 BREAST - - - - RYR2 NM_001035,p.S3437A|uc010pxz.1,p.S392A|ENST00000366574,p.S3437A|ENST00000542537,p.S3421A|ENST00000360064,p.S3435A|uc001hyl.1,p.S3437A protein_coding, processed_transcript uc010pxz.1 nonsynonymous SNV exon10 c.T1174G p.S392A INNMSFLITDTKSKMSKAAVSDQER INNMSFLITDTKAKMSKAAVSDQER 3.0 5.0 - - 4326_1:237875123-237875123 T>G_INNMSFLITDTKAKMSKAAVSDQER 0.0 1:152281771-152281771 A>C 0.0 4186 BREAST - - - - FLG ENST00000368799,p.V1864G|uc001ezu.1,p.V1864G|NM_002016,p.V1864G protein_coding uc001ezu.1 nonsynonymous SNV exon3 c.T5591G p.V1864G SDVSRGQSGSRSVSRQTRNEKQSGD SDVSRGQSGSRSGSRQTRNEKQSGD 1.0 3.0 - - 4186_1:152281771-152281771 A>C_SDVSRGQSGSRSGSRQTRNEKQSGD 0.0 19:13186456-13186456 C>T 1.0 4081 COLORECTAL - - - - NFIX uc010xmx.2,p.S317F|NM_002501,p.S309F|uc002mwg.2,p.S308F|uc002mwe.4,p.S301F|ENST00000397661,p.S309F|ENST00000588228,p.S262F|uc002mwd.3,p.S309F|NM_001271043,p.S317F|ENST00000587760,p.S301F|ENST00000585575,p.S301F|NM_001271044,p.S301F|ENST00000592199,p.S309F|ENST00000587260,p.S308F protein_coding, processed_transcript, nonsense_mediated_decay uc010xmx.2 nonsynonymous SNV exon6 c.C950T p.S317F GTGRSPAAGSSQSSGWPNDVDAGPA GTGRSPAAGSSQFSGWPNDVDAGPA 10.0 7.0 - - 4081_19:13186456-13186456 C>T_GTGRSPAAGSSQFSGWPNDVDAGPA 0.0 13:46705031-46705031 C>T 1.0 4275 COLORECTAL - - ID=COSM1367071;OCCURENCE=1(large_intestine) 2 LCP1 NM_002298,p.D557N|uc010ack.3,p.D126N|uc001vaz.4,p.D557N|ENST00000323076,p.D557N|uc001vba.4,p.D557N|uc001vay.4,p.D154N|ENST00000398576,p.D557N|ENST00000435666,p.D126N protein_coding, processed_transcript uc010ack.3 nonsynonymous SNV exon4 c.G376A p.D126N KISTSLPVLDLIDAIQPGSINYDLL KISTSLPVLDLINAIQPGSINYDLL 10.0 3.0 - - 4275_13:46705031-46705031 C>T_KISTSLPVLDLINAIQPGSINYDLL 0.0 3:100065086-100065086 C>G 1.0 4244 COLORECTAL - - - - NIT2 uc011bha.1,p.S133C retained_intron, protein_coding, nonsense_mediated_decay uc011bha.1 nonsynonymous SNV exon5 c.C398G p.S133C SATTCGLQSLHKSTHREAASCWYIQ SATTCGLQSLHKCTHREAASCWYIQ 10.0 4.0 - - 4244_3:100065086-100065086 C>G_SATTCGLQSLHKCTHREAASCWYIQ 0.0 10:62631290-62631290 G>A 1.0 3713 MELANOMA - - ID=COSM919334;OCCURENCE=1(endometrium) - RHOBTB1 uc001jli.3,p.R681C|NM_014836,p.R681C|uc001jlk.3,p.R681C|ENST00000337910,p.R681C|uc001jlh.3,p.R681C|uc001jlj.3,p.R681C|ENST00000357917,p.R681C|NM_001242359,p.R681C|uc009xpe.2,p.R619C protein_coding, processed_transcript uc009xpe.2 nonsynonymous SNV exon9 c.C1855T p.R619C EREKEDIALNKHRSRRKWCFWNSSP EREKEDIALNKHCSRRKWCFWNSSP 5.0 6.0 - - 3713_10:62631290-62631290 G>A_EREKEDIALNKHCSRRKWCFWNSSP 0.0 21:37742103-37742103 G>T 1.0 3678 MELANOMA - - - - MORC3 ENST00000551788,p.A65S|ENST00000549948,p.A65S|uc002yvi.3,p.A813S|ENST00000400485,p.A813S|ENST00000546482,p.A65S|NM_015358,p.A813S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002yvi.3 nonsynonymous SNV exon15 c.G2437T p.A813S SNNESKSEMDEMAVQLDDVFRQLDK SNNESKSEMDEMSVQLDDVFRQLDK 10.0 8.0 - - 3678_21:37742103-37742103 G>T_SNNESKSEMDEMSVQLDDVFRQLDK 0.0 3:112289455-112289455 C>T 1.0 3466 MELANOMA - - - - SLC35A5 ENST00000261034,p.P100S|ENST00000492406,p.P100S|uc003dze.4,p.P100S|ENST00000484995,p.P100S|NM_017945,p.P100S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003dze.4 nonsynonymous SNV exon4 c.C298T p.P100S WKEFSDFMKWSIPAFLYFLDNLIVF WKEFSDFMKWSISAFLYFLDNLIVF 9.0 4.0 - - 3466_3:112289455-112289455 C>T_WKEFSDFMKWSISAFLYFLDNLIVF 0.0 13:41328211-41328211 C>A 1.0 4126 NSCLC - - - - MRPS31 uc001uxm.4,p.G253V|ENST00000323563,p.G253V|NM_005830,p.G253V protein_coding, processed_transcript uc001uxm.4 nonsynonymous SNV exon5 c.G758T p.G253V TDDLKKRKNIFTGKRLNIFDMMAVT TDDLKKRKNIFTVKRLNIFDMMAVT 6.0 1.0 - - 4126_13:41328211-41328211 C>A_TDDLKKRKNIFTVKRLNIFDMMAVT 0.0 11:73809133-73809133 T>C 0.0 4245 COLORECTAL - - - - C2CD3 NM_015531,p.N967S|NM_001286577,p.N967S|uc001ouu.2,p.N967S|ENST00000313663,p.N967S|ENST00000334126,p.N967S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001ouu.2 nonsynonymous SNV exon16 c.A2900G p.N967S SSNQIMALQRLKNEEGTLPPFSPRP SSNQIMALQRLKSEEGTLPPFSPRP 7.0 10.0 - - 4245_11:73809133-73809133 T>C_SSNQIMALQRLKSEEGTLPPFSPRP 0.0 2:61275891-61275891 A>G 1.0 4244 COLORECTAL - - - - PEX13 uc002sau.4,p.K400E|ENST00000295030,p.K400E|NM_002618,p.K400E protein_coding, processed_transcript uc002sau.4 nonsynonymous SNV exon4 c.A1198G p.K400E PVAPDSIGKDGEKQDL PVAPDSIGKDGEEQDL 8.0 8.0 - - 4244_2:61275891-61275891 A>G_PVAPDSIGKDGEEQDL 0.0 5:140208253-140208253 G>A 1.0 3903 MELANOMA - - - - PCDHA6 ENST00000527624,p.G193R|uc003lho.2,p.G193R|NM_031848,p.G193R|uc011dab.2,p.G193R|NM_031849,p.G193R|NM_018909,p.G193R|ENST00000529310,p.G193R|uc003lhn.2,p.G193R protein_coding uc011dab.2 nonsynonymous SNV exon1 c.G577A p.G193R DVKINSDDNKQIGLLLKKSLDREEA DVKINSDDNKQIRLLLKKSLDREEA 4.0 5.0 - - 3903_5:140208253-140208253 G>A_DVKINSDDNKQIRLLLKKSLDREEA 0.0 17:73997571-73997571 A>C 0.0 4320 COLORECTAL - - - - CDK3 uc010dgt.3,p.K22T|ENST00000425876,p.K22T|ENST00000448471,p.K22T|NM_001258,p.K22T|ENST00000588812,p.K22T protein_coding uc010dgt.3 nonsynonymous SNV exon2 c.A65C p.K22T IGEGTYGVVYKAKNRETGQLVALKK IGEGTYGVVYKATNRETGQLVALKK 6.0 1.0 - - 4320_17:73997571-73997571 A>C_IGEGTYGVVYKATNRETGQLVALKK 0.0 7:43490462-43490462 A>C 0.0 4245 COLORECTAL - - - - HECW1 NM_015052,p.S812R|uc003tid.1,p.S812R|ENST00000395891,p.S812R protein_coding, processed_transcript uc003tid.1 nonsynonymous SNV exon12 c.A2434C p.S812R GECPILHNSQPVSQLPSLRPEHHHY GECPILHNSQPVRQLPSLRPEHHHY 3.0 1.0 - - 4245_7:43490462-43490462 A>C_GECPILHNSQPVRQLPSLRPEHHHY 0.0 X:86071073-86071073 G>A 0.0 3903 MELANOMA - - - - DACH2 uc010nmr.2,p.G355E|uc010nmq.2,p.G440E|uc004eew.2,p.G574E|uc011mra.1,p.G407E|NM_001139515,p.G407E|NM_053281,p.G574E|ENST00000508860,p.G407E|ENST00000373125,p.G574E|ENST00000510272,p.G355E protein_coding, processed_transcript, nonsense_mediated_decay uc011mra.1 nonsynonymous SNV exon11 c.G1220A p.G407E DTGIPDIEIENNGTPHDSAAMQGGN DTGIPDIEIENNETPHDSAAMQGGN 1.0 10.0 - - 3903_X:86071073-86071073 G>A_DTGIPDIEIENNETPHDSAAMQGGN 0.0 3:194790460-194790460 G>A 1.0 3678 MELANOMA - - - - XXYLT1 uc003ful.3,p.P186L|NM_152531,p.P389L|ENST00000429994,p.P243L|ENST00000355729,p.P186L|ENST00000356740,p.P183L|uc003fum.4,p.P389L|ENST00000310380,p.P389L|uc003fuk.3,p.P183L|ENST00000437101,p.P186L protein_coding, processed_transcript, nonsense_mediated_decay uc003fum.4 nonsynonymous SNV exon4 c.C1166T p.P389L GHVKIYHGNCNTPIPED GHVKIYHGNCNTLIPED 5.0 3.0 - - 3678_3:194790460-194790460 G>A_GHVKIYHGNCNTLIPED 0.0 11:62400140-62400140 G>A 1.0 3879 MELANOMA - - - - GANAB ENST00000540933,p.S201F|ENST00000346178,p.S320F|uc001nuc.4,p.S201F|uc010rmb.3,p.S184F|NM_198334,p.S298F|ENST00000356638,p.S298F|NM_198335,p.S320F|NM_001278192,p.S206F|NM_001278193,p.S184F|uc001nua.4,p.S320F|uc001nub.4,p.S298F|NM_001278194,p.S201F|uc010rma.3,p.S206F|ENST00000534779,p.S206F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010rmb.3 nonsynonymous SNV exon6 c.C551T p.S184F QYELYNPMALYGSVPVLLAHNPHRD QYELYNPMALYGFVPVLLAHNPHRD 10.0 5.0 CD8 - 3879_11:62400140-62400140 G>A_QYELYNPMALYGFVPVLLAHNPHRD 1.0 5:141694402-141694402 G>A 1.0 2556 MELANOMA - - - - SPRY4 ENST00000434127,p.S91F|NM_001127496,p.S91F|uc003lml.2,p.S91F|uc010jgi.1,p.S114F|uc021yet.1,p.S91F|ENST00000344120,p.S114F|NM_001293290,p.S91F|NM_030964,p.S114F|NM_001293289,p.S91F protein_coding, processed_transcript uc021yet.1 nonsynonymous SNV exon1 c.C272T p.S91F ARCDQDVTHHWISFSGRPSSVSSSS ARCDQDVTHHWIFFSGRPSSVSSSS 10.0 7.0 - - 2556_5:141694402-141694402 G>A_ARCDQDVTHHWIFFSGRPSSVSSSS 0.0 17:48192989-48192989 G>T 1.0 3903 MELANOMA - - - - SAMD14 uc002iqg.4,p.T254N|uc002iqe.4,p.T37N|ENST00000330175,p.T254N|ENST00000285206,p.T266N|NM_001257359,p.T254N|uc002iqf.4,p.T254N|ENST00000503131,p.T254N|NM_174920,p.T254N retained_intron, protein_coding, processed_transcript uc002iqg.4 nonsynonymous SNV exon7 c.C761A p.T254N TDSGKGSASSGSTTSPTCSPKHEGF TDSGKGSASSGSNTSPTCSPKHEGF 5.0 5.0 - - 3903_17:48192989-48192989 G>T_TDSGKGSASSGSNTSPTCSPKHEGF 0.0 9:32542310-32542310 T>G 1.0 3678 MELANOMA - - - - TOPORS NM_005802,p.E738A|NM_001195622,p.E673A|uc003zrc.3,p.E673A|uc003zrb.3,p.E738A|ENST00000360538,p.E738A|ENST00000379858,p.E673A protein_coding uc003zrc.3 nonsynonymous SNV exon2 c.A2018C p.E673A SRAHYSRQSSSPEFRVQSFSERTNA SRAHYSRQSSSPAFRVQSFSERTNA 7.0 10.0 - - 3678_9:32542310-32542310 T>G_SRAHYSRQSSSPAFRVQSFSERTNA 0.0