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 19:57089898-57089898 G>A 0.0 4186 BREAST 0.0005 - - - ZNF470 ENST00000391709,p.G701R|NM_001001668,p.G701R|uc002qnl.4,p.G701R|ENST00000330619,p.G701R protein_coding, processed_transcript uc002qnl.4 nonsynonymous SNV exon6 c.G2101A p.G701R SVHLAHHQRIHTGESSVILSSALPY SVHLAHHQRIHTRESSVILSSALPY 3.0 5.0 - - 4186_19:57089898-57089898 G>A_SVHLAHHQRIHTRESSVILSSALPY 0.0 4:87696678-87696678 G>A 0.0 4186 BREAST - - - 1 PTPN13 NM_080683,p.E1922K|ENST00000427191,p.E1903K|ENST00000411767,p.E1922K|ENST00000436978,p.E1927K|uc003hqc.1,p.E288K|ENST00000511467,p.E1927K|NM_080684,p.E1731K|NM_080685,p.E1927K|NM_006264,p.E1903K|uc003hqb.3,p.E1731K|uc003hpz.3,p.E1922K|ENST00000316707,p.E1731K|uc003hpy.3,p.E1927K|uc003hqa.3,p.E1903K retained_intron, protein_coding uc003hqc.1 nonsynonymous SNV exon7 c.G862A p.E288K ISDINPRSVAAIEGNLQLLDVIHYV ISDINPRSVAAIKGNLQLLDVIHYV 4.0 7.0 - - 4186_4:87696678-87696678 G>A_ISDINPRSVAAIKGNLQLLDVIHYV 0.0 13:35923297-35923297 G>C 1.0 4234 NSCLC - - - 2 NBEA NM_015678,p.E1986Q|ENST00000310336,p.E1986Q|ENST00000400445,p.E1986Q|uc010abi.3,p.E642Q|ENST00000379939,p.E1983Q|uc021rid.1,p.E1986Q|ENST00000540320,p.E1986Q protein_coding, processed_transcript uc021rid.1 nonsynonymous SNV exon37 c.G5956C p.E1986Q MKDHIVRVANEAEFILNRQRAEDVH MKDHIVRVANEAQFILNRQRAEDVH 5.0 9.0 - - 4234_13:35923297-35923297 G>C_MKDHIVRVANEAQFILNRQRAEDVH 0.0 8:54859308-54859308 G>A 0.0 4235 COLORECTAL - - - - RGS20 NM_001286673,p.S133N|NM_170587,p.S248N|NM_001286675,p.S40N|NM_003702,p.S101N|uc003xrp.3,p.S248N|uc003xrs.3,p.S101N|ENST00000297313,p.S248N|uc010lye.3,p.S40N|ENST00000276500,p.S101N|ENST00000344277,p.S133N|uc003xrq.3,p.S133N protein_coding, processed_transcript, nonsense_mediated_decay uc010lye.3 nonsynonymous SNV exon2 c.G119A p.S40N HELRADLPTWEESPAPTLEEVNAWA HELRADLPTWEENPAPTLEEVNAWA 1.0 3.0 - - 4235_8:54859308-54859308 G>A_HELRADLPTWEENPAPTLEEVNAWA 0.0 19:41930509-41930509 A>C 1.0 4345 COLORECTAL - - - - BCKDHA uc010xvz.2,p.K448T|uc002oqr.3,p.K444T|ENST00000457836,p.K448T|uc002oqm.4,p.K479T|NM_000709,p.K445T|uc002oqq.3,p.K445T|ENST00000540732,p.K479T|ENST00000595085,p.K479T|ENST00000269980,p.K445T|NM_001164783,p.K444T retained_intron, protein_coding, processed_transcript uc010xvz.2 nonsynonymous SNV exon9 c.A1343C p.K448T TYGEHYPLDHFDK TYGEHYPLDHFDT 9.0 4.0 - - 4345_19:41930509-41930509 A>C_TYGEHYPLDHFDT 0.0 2:233409212-233409212 C>T 0.0 4258 ENDOMETRIAL - - - - CHRNG ENST00000389492,p.L339F|ENST00000389494,p.L391F|NM_005199,p.L391F|uc010fye.1,p.L339F|uc002vsx.1,p.L391F retained_intron, protein_coding uc010fye.1 nonsynonymous SNV exon9 c.C1015T p.L339F SGWSITTGEEVALCLPRSELLFQQW SGWSITTGEEVAFCLPRSELLFQQW 4.0 5.0 - - 4258_2:233409212-233409212 C>T_SGWSITTGEEVAFCLPRSELLFQQW 0.0 5:112164603-112164603 ->A 1.0 4245 COLORECTAL - - - 1 APC uc003kpz.4,p.S559fs|uc011cvt.2,p.S541fs|NM_001127511,p.S541fs|ENST00000507379,p.S541fs|NM_000038,p.S559fs|ENST00000257430,p.S559fs|NM_001127510,p.S559fs|uc003kpy.4,p.S559fs|uc010jbz.3,p.S276fs|ENST00000508376,p.S559fs|ENST00000457016,p.S559fs|ENST00000512211,p.S559fs|ENST00000504915,p.S122fs nonsense_mediated_decay,retained_intron, protein_coding, processed_transcript uc011cvt.2 frameshift insertion exon12 c.1624dupA p.S541fs VLRNLSWRADVNSKKTLREVGSVKA VLRNLSWRADVNSKKDVARSWKCESIDGMCFRS 6.0 9.0 - - 4245_5:112164603-112164603 ->A_VLRNLSWRADVNSKKDVARSWKCESIDGMCFRS 0.0 12:25054798-25054798 C>T 0.0 4235 COLORECTAL - - - - BCAT1 ENST00000538118,p.A9T|NM_001178094,p.A9T|uc001rgc.3,p.A9T protein_coding, processed_transcript uc001rgc.3 nonsynonymous SNV exon2 c.G25A p.A9T MDCSNGCSAECTGEGGSKEVV MDCSNGCSTECTGEGGSKEVV 5.0 8.0 - - 4235_12:25054798-25054798 C>T_MDCSNGCSTECTGEGGSKEVV 0.0 1:168511244-168511244 A>T 0.0 4046 OVARIAN - - - - XCL2 ENST00000367819,p.L55M|NM_003175,p.L55M|uc001gfn.4,p.L55M protein_coding uc001gfn.4 nonsynonymous SNV exon2 c.T163A p.L55M SRIKTYTITEGSLRAVIFITKRGLK SRIKTYTITEGSMRAVIFITKRGLK 3.0 4.0 - - 4046_1:168511244-168511244 A>T_SRIKTYTITEGSMRAVIFITKRGLK 0.0 14:23311710-23311710 C>T 1.0 4177 PANCREATIC - - - - MMP14 ENST00000311852,p.R158C|uc001whc.3,p.R158C|NM_004995,p.R158C|ENST00000548761,p.R164C retained_intron, protein_coding, processed_transcript uc001whc.3 nonsynonymous SNV exon4 c.C472T p.R158C KAFRVWESATPLRFREVPYAYIREG KAFRVWESATPLCFREVPYAYIREG 10.0 10.0 CD8 - 4177_14:23311710-23311710 C>T_KAFRVWESATPLCFREVPYAYIREG 2.0 1:16525147-16525147 G>C 1.0 3713 MELANOMA - - - - ARHGEF19 ENST00000270747,p.R782G|uc001ayc.1,p.R782G|NM_153213,p.R782G protein_coding, processed_transcript uc001ayc.1 nonsynonymous SNV exon16 c.C2344G p.R782G YVEEISSLSARLRNLRENKRVTSAT YVEEISSLSARLGNLRENKRVTSAT 3.0 9.0 - - 3713_1:16525147-16525147 G>C_YVEEISSLSARLGNLRENKRVTSAT 0.0 19:35757614-35757614 C>T 1.0 4186 BREAST - - - - LSR ENST00000605618,p.R228W|NM_001260490,p.R269W|ENST00000427250,p.R221W|NM_205835,p.R309W|ENST00000354900,p.R358W|NM_015925,p.R358W|uc002nyn.3,p.R309W|ENST00000360798,p.R309W|NM_205834,p.R377W|uc002nym.3,p.R358W|uc002nyl.3,p.R377W|ENST00000361790,p.R377W|uc010xsr.2,p.R269W retained_intron, protein_coding uc010xsr.2 nonsynonymous SNV exon4 c.C805T p.R269W SAGGQGSYVPLLRDTDSSVASEVRS SAGGQGSYVPLLWDTDSSVASEVRS 10.0 8.0 CD8 - 4186_19:35757614-35757614 C>T_SAGGQGSYVPLLWDTDSSVASEVRS 1.0 16:68104875-68104875 C>T 1.0 2369 MELANOMA - - - - DUS2 uc002evj.4,p.S225L|NM_017803,p.S225L|ENST00000432752,p.S190L|uc010vkk.3,p.S190L|uc002evi.4,p.S225L|ENST00000565263,p.S225L|ENST00000358896,p.S225L|NM_001271762,p.S225L|NM_001271763,p.S190L retained_intron, protein_coding, nonsense_mediated_decay uc010vkk.3 nonsynonymous SNV exon10 c.C569T p.S190L ANGGSHDHIQQYSDIEDFRQATAAS ANGGSHDHIQQYLDIEDFRQATAAS 6.0 3.0 - - 2369_16:68104875-68104875 C>T_ANGGSHDHIQQYLDIEDFRQATAAS 0.0 1:235345320-235345320 C>T 1.0 3466 MELANOMA - - - - ARID4B uc021pks.1,p.V972M|uc001hwr.3,p.V886M|uc001hwt.4,p.V653M|NM_016374,p.V972M|uc001hws.4,p.V886M|ENST00000421364,p.V972M|NM_031371,p.V886M|ENST00000349213,p.V886M|NM_001206794,p.V972M|uc001hwq.3,p.V972M|ENST00000264183,p.V972M|ENST00000366603,p.V972M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021pks.1 nonsynonymous SNV exon20 c.G2914A p.V972M PEEGVAEESLQTVAEEESCSPSVEL PEEGVAEESLQTMAEEESCSPSVEL 10.0 3.0 - - 3466_1:235345320-235345320 C>T_PEEGVAEESLQTMAEEESCSPSVEL 0.0 2:73678780-73678780 C>T 0.0 4186 BREAST - - - - ALMS1 ENST00000377715,p.S1708F|uc002sjh.1,p.S1096F|ENST00000264448,p.S1708F|uc002sjf.1,p.S1666F|uc002sjg.3,p.S1096F|ENST00000409009,p.S1666F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002sjh.1 nonsynonymous SNV exon1 c.C3287T p.S1096F PDAQKTETPSVSSSLYSYREKPIVF PDAQKTETPSVSFSLYSYREKPIVF 6.0 8.0 - - 4186_2:73678780-73678780 C>T_PDAQKTETPSVSFSLYSYREKPIVF 0.0 3:113775283-113775283 A>C 1.0 4213 COLORECTAL - - - - KIAA1407 uc003eax.3,p.S11A|ENST00000491000,p.S11A|NM_020817,p.S11A|ENST00000460813,p.S11A|ENST00000295878,p.S11A|ENST00000463695,p.S11A|uc011bip.1,p.S11A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bip.1 nonsynonymous SNV exon1 c.T31G p.S11A MLLAPQGRSFSKKRMGLNRWKRF MLLAPQGRSFAKKRMGLNRWKRF 7.0 4.0 - - 4213_3:113775283-113775283 A>C_MLLAPQGRSFAKKRMGLNRWKRF 0.0 11:7111154-7111154 G>A 0.0 4245 COLORECTAL - - ID=COSM1223403;OCCURENCE=1(large_intestine) - RBMXL2 ENST00000306904,p.R268H|NM_014469,p.R268H|uc001mfc.2,p.R268H protein_coding uc001mfc.2 nonsynonymous SNV exon1 c.G803A p.R268H GYSDRDGYGGRDRDYGDHLSRGSHR GYSDRDGYGGRDHDYGDHLSRGSHR 2.0 8.0 - - 4245_11:7111154-7111154 G>A_GYSDRDGYGGRDHDYGDHLSRGSHR 0.0 7:4107534-4107534 G>T 0.0 4266 COLORECTAL - - - - SDK1 NM_152744,p.W992C|uc010kso.3,p.W268C|ENST00000389531,p.W992C|uc003smx.3,p.W992C|ENST00000404826,p.W992C retained_intron, protein_coding, processed_transcript uc010kso.3 nonsynonymous SNV exon6 c.G804T p.W268C FTEILDTSLKVSWQEPLEKNGIITG FTEILDTSLKVSCQEPLEKNGIITG 5.0 4.0 - - 4266_7:4107534-4107534 G>T_FTEILDTSLKVSCQEPLEKNGIITG 0.0 4:76720820-76720820 A>G 1.0 4189 MELANOMA - - - - USO1 uc003hiv.3,p.T342A|ENST00000514213,p.T485A|ENST00000538159,p.T509A|uc003hiw.3,p.T335A retained_intron, protein_coding uc003hiw.3 nonsynonymous SNV exon11 c.A1003G p.T335A IQTRVGLLMLLCTWLSNCPIAVTHF IQTRVGLLMLLCAWLSNCPIAVTHF 10.0 4.0 - - 4189_4:76720820-76720820 A>G_IQTRVGLLMLLCAWLSNCPIAVTHF 0.0 3:89390994-89390994 C>T 0.0 4316 COLORECTAL - - - 2 EPHA3 uc003dqx.1,p.R354W|NM_182644,p.R354W|uc021xbf.1,p.R354W|NM_005233,p.R354W|uc003dqy.3,p.R354W|ENST00000494014,p.R354W|ENST00000452448,p.R354W|ENST00000336596,p.R354W protein_coding uc021xbf.1 nonsynonymous SNV exon5 c.C1060T p.R354W ILDWSWPLDTGGRKDVTFNIICKKC ILDWSWPLDTGGWKDVTFNIICKKC 2.0 7.0 - - 4316_3:89390994-89390994 C>T_ILDWSWPLDTGGWKDVTFNIICKKC 0.0 8:119391895-119391895 C>T 0.0 3903 MELANOMA - - - - SAMD12 ENST00000526328,p.G123R|NM_001101676,p.G123R|uc003yom.2,p.G123R|ENST00000314727,p.G123R|uc010mda.1,p.G123R|NM_207506,p.G123R|ENST00000409003,p.G123R|ENST00000524796,p.G115R protein_coding, processed_transcript, nonsense_mediated_decay uc010mda.1 nonsynonymous SNV exon4 c.G367A p.G123R LLRLTDKKLERMGIAQENLRQHILQ LLRLTDKKLERMRIAQENLRQHILQ 1.0 9.0 - - 3903_8:119391895-119391895 C>T_LLRLTDKKLERMRIAQENLRQHILQ 0.0 5:38876329-38876329 C>T 1.0 3466 MELANOMA - - ID=COSM3393556;OCCURENCE=1(pancreas) - OSMR uc003jln.2,p.P34S|NM_001168355,p.P34S|ENST00000502536,p.P34S|NM_003999,p.P34S|uc003jlm.2,p.P34S|ENST00000274276,p.P34S protein_coding, nonsense_mediated_decay uc003jln.2 nonsynonymous SNV exon3 c.C100T p.P34S QSEVLAERLPLTPVSLKVSTNSTRQ QSEVLAERLPLTSVSLKVSTNSTRQ 8.0 2.0 - - 3466_5:38876329-38876329 C>T_QSEVLAERLPLTSVSLKVSTNSTRQ 0.0 7:136700514-136700514 T>A 0.0 3903 MELANOMA - - - - CHRM2 uc003vtf.1,p.I301K|NM_001006627,p.I301K|ENST00000445907,p.I301K|NM_001006629,p.I301K|ENST00000401861,p.I301K|uc003vtm.1,p.I301K|uc003vtg.1,p.I301K|NM_001006630,p.I301K|NM_001006632,p.I301K|NM_001006626,p.I301K|uc022ame.1,p.I301K|ENST00000320658,p.I301K|uc003vtn.1,p.I301K|uc003vto.1,p.I301K|ENST00000453373,p.I301K|NM_001006628,p.I301K|ENST00000397608,p.I301K|uc003vti.1,p.I301K|NM_000739,p.I301K|uc003vtl.1,p.I301K|uc003vtk.1,p.I301K|NM_001006631,p.I301K|uc003vtj.1,p.I301K|ENST00000402486,p.I301K protein_coding, processed_transcript uc022ame.1 nonsynonymous SNV exon1 c.T902A p.I301K VSAVASNMRDDEITQDENTVSTSLG VSAVASNMRDDEKTQDENTVSTSLG 1.0 5.0 - - 3903_7:136700514-136700514 T>A_VSAVASNMRDDEKTQDENTVSTSLG 0.0 X:140785632-140785632 G>A 0.0 4246 COLORECTAL - - - - SPANXC,SPANXD NM_022661,p.P95L|ENST00000370515,p.P95L|uc004fbq.3,p.P95L|NM_032417,p.P95L protein_coding uc004fbq.3 nonsynonymous SNV exon2 c.C284T p.P95L EEEEFMEIMVEIPAK EEEEFMEIMVEILAK 1.0 3.0 - - 4246_X:140785632-140785632 G>A_EEEEFMEIMVEILAK 0.0 19:4793035-4793035 C>T 1.0 3466 MELANOMA - - - - FEM1A ENST00000269856,p.S390F|uc002mbf.3,p.S390F|NM_018708,p.S390F protein_coding uc002mbf.3 nonsynonymous SNV exon1 c.C1169T p.S390F RERILGPSHPDTSYYIRYRGAVYAD RERILGPSHPDTFYYIRYRGAVYAD 7.0 2.0 - - 3466_19:4793035-4793035 C>T_RERILGPSHPDTFYYIRYRGAVYAD 0.0 13:76427283-76427283 C>T 1.0 2556 MELANOMA - - - - LMO7 NM_005358,p.P1192S|ENST00000465261,p.P1241S|uc010thw.2,p.P1118S|NM_015842,p.P1241S|uc001vjv.3,p.P1241S|uc010thv.2,p.P1192S|ENST00000526202,p.P1118S|uc021rkq.1,p.P1474S|ENST00000377534,p.P1526S|ENST00000357063,p.P1526S|ENST00000341547,p.P1192S|ENST00000321797,p.P1241S retained_intron, protein_coding, processed_transcript uc021rkq.1 nonsynonymous SNV exon28 c.C4420T p.P1474S LDSPRSNSWRQPPWLNQPTGFYASS LDSPRSNSWRQPSWLNQPTGFYASS 10.0 7.0 - - 2556_13:76427283-76427283 C>T_LDSPRSNSWRQPSWLNQPTGFYASS 0.0 3:122642525-122642525 C>T 0.0 4259 COLORECTAL - - ID=COSM218739,COSM218740;OCCURENCE=2(pancreas) - SEMA5B uc011bju.2,p.R346H|uc003egb.2,p.R404H|ENST00000357599,p.R404H|NM_001256346,p.R404H|ENST00000393583,p.R404H|uc010hro.2,p.R346H|uc003efz.2,p.R404H|NM_001256348,p.R346H|ENST00000451055,p.R458H|NM_001256347,p.R458H|NM_001031702,p.R404H|ENST00000475244,p.R404H|uc031sbm.1,p.R458H|ENST00000195173,p.R404H protein_coding, processed_transcript, nonsense_mediated_decay uc031sbm.1 nonsynonymous SNV exon10 c.G1373A p.R458H LSAISQAFNGPFRYQENPRAAWLPI LSAISQAFNGPFHYQENPRAAWLPI 5.0 10.0 - - 4259_3:122642525-122642525 C>T_LSAISQAFNGPFHYQENPRAAWLPI 0.0 2:185803062-185803062 C>T 0.0 3903 MELANOMA - - - - ZNF804A uc002uph.3,p.P980L|ENST00000302277,p.P980L|NM_194250,p.P980L protein_coding uc002uph.3 nonsynonymous SNV exon4 c.C2939T p.P980L SYLCHYELAEALPQGKMNETPTEWL SYLCHYELAEALLQGKMNETPTEWL 2.0 3.0 - - 3903_2:185803062-185803062 C>T_SYLCHYELAEALLQGKMNETPTEWL 0.0 1:114437968-114437968 G>A 1.0 3998 MELANOMA - - ID=COSM1332828;OCCURENCE=1(large_intestine) - AP4B1 NM_001253853,p.P548S|ENST00000369567,p.P479S|ENST00000369569,p.P647S|ENST00000256658,p.P647S|uc010owp.2,p.P548S|NM_001253852,p.P647S|NM_006594,p.P647S|uc001eec.3,p.P479S|uc001eed.3,p.P647S|uc001eeb.3,p.P647S protein_coding, processed_transcript uc010owp.2 nonsynonymous SNV exon11 c.C1642T p.P548S WLSLKVAHQQVLPWRGEFHPDTLQM WLSLKVAHQQVLSWRGEFHPDTLQM 7.0 8.0 - - 3998_1:114437968-114437968 G>A_WLSLKVAHQQVLSWRGEFHPDTLQM 0.0 2:179486277-179486277 C>T 1.0 4266 COLORECTAL - - - - TTN uc021vsy.2,p.A12524T|uc021vtb.2,p.A6027T|uc031rqc.1,p.A15092T|NM_001267550,p.A15092T|NM_133378,p.A12524T|ENST00000591111,p.A13451T|ENST00000359218,p.A6152T|uc031rqd.1,p.A13451T|ENST00000589042,p.A15092T|ENST00000460472,p.A6027T|NM_133437,p.A6219T|ENST00000342175,p.A6219T|uc021vsz.2,p.A6219T|uc021vta.2,p.A6152T|NM_133432,p.A6152T|NM_003319,p.A6027T|NM_001256850,p.A13451T|ENST00000342992,p.A12524T retained_intron, protein_coding uc031rqd.1 nonsynonymous SNV exon195 c.G40351A p.A13451T TEGRKRILVIQNAHLEDAGNYNCRL TEGRKRILVIQNTHLEDAGNYNCRL 5.0 8.0 - - 4266_2:179486277-179486277 C>T_TEGRKRILVIQNTHLEDAGNYNCRL 0.0 3:194159638-194159638 G>A 1.0 3678 MELANOMA 0.0005 - - - ATP13A3 ENST00000256031,p.R592C|uc003fty.4,p.R592C|ENST00000439040,p.R592C|uc003ftz.1,p.R298C|NM_024524,p.R592C retained_intron, protein_coding uc003ftz.1 nonsynonymous SNV exon7 c.C892T p.R298C TALHNRIMPTVVRPPKQLLPESTPA TALHNRIMPTVVCPPKQLLPESTPA 9.0 4.0 - - 3678_3:194159638-194159638 G>A_TALHNRIMPTVVCPPKQLLPESTPA 0.0 13:103390563-103390563 T>C 0.0 4278 COLORECTAL - - - - CCDC168 NM_001146197,p.I4162V|uc001vpm.3,p.I4162V protein_coding uc001vpm.3 nonsynonymous SNV exon4 c.A12484G p.I4162V DYMQQKEDDEVKISAKKDIMHPEDK DYMQQKEDDEVKVSAKKDIMHPEDK 5.0 8.0 - - 4278_13:103390563-103390563 T>C_DYMQQKEDDEVKVSAKKDIMHPEDK 0.0 1:149761670-149761670 T>C 0.0 4320 COLORECTAL - - - - FCGR1A ENST00000444948,p.L115P|NM_000566,p.L207P|ENST00000369168,p.L207P|uc001esp.4,p.L207P protein_coding, processed_transcript uc001esp.4 nonsynonymous SNV exon5 c.T620C p.L207P NASVTSPLLEGNLVTLSCETKLLLQ NASVTSPLLEGNPVTLSCETKLLLQ 8.0 4.0 - - 4320_1:149761670-149761670 T>C_NASVTSPLLEGNPVTLSCETKLLLQ 0.0 6:36938207-36938207 C>A 1.0 4237 NSCLC - - - - MTCH1 ENST00000460219,p.D300Y|uc003onc.2,p.D316Y|ENST00000373627,p.D333Y|uc011dtt.3,p.D148Y|uc003one.5,p.D333Y|uc003ond.2,p.D333Y|ENST00000373616,p.D316Y|NM_014341,p.D316Y|NM_001271641,p.D333Y|ENST00000538808,p.D160Y protein_coding, processed_transcript uc011dtt.3 nonsynonymous SNV exon9 c.G442T p.D148Y VSMLTYPFLLVGDLMAVNNCGLQAG VSMLTYPFLLVGYLMAVNNCGLQAG 10.0 2.0 - - 4237_6:36938207-36938207 C>A_VSMLTYPFLLVGYLMAVNNCGLQAG 0.0 17:33319646-33319646 G>A 1.0 3903 MELANOMA - - - - LIG3 ENST00000262327,p.E464K|ENST00000585941,p.E473K|uc002hik.2,p.E464K|ENST00000378526,p.E464K|NM_002311,p.E464K|uc010cth.1,p.E473K|NM_013975,p.E464K|uc002hij.3,p.E464K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010cth.1 nonsynonymous SNV exon8 c.G1417A p.E473K ERVLHNAQEVEKEPGQRRALSVQAS ERVLHNAQEVEKKPGQRRALSVQAS 8.0 2.0 - - 3903_17:33319646-33319646 G>A_ERVLHNAQEVEKKPGQRRALSVQAS 0.0 11:9867113-9867113 G>A 1.0 3879 MELANOMA - - ID=COSM933702;OCCURENCE=1(endometrium) - SBF2 uc001mib.2,p.R1037C|ENST00000256190,p.R1037C|NM_030962,p.R1037C|uc001mif.3,p.R793C retained_intron, protein_coding, processed_transcript uc001mif.3 nonsynonymous SNV exon23 c.C2377T p.R793C ILPKQKEKNTSFRTFSKTIVKGAKR ILPKQKEKNTSFCTFSKTIVKGAKR 7.0 9.0 - - 3879_11:9867113-9867113 G>A_ILPKQKEKNTSFCTFSKTIVKGAKR 0.0 20:31756971-31756971 T>A 0.0 4245 COLORECTAL - - - - BPIFA2 ENST00000253362,p.L7H|ENST00000354932,p.L7H|uc002wyo.1,p.L7H|NM_080574,p.L7H protein_coding uc002wyo.1 nonsynonymous SNV exon2 c.T20A p.L7H MLQLWKLVLLCGVLTGTSE MLQLWKHVLLCGVLTGTSE 3.0 2.0 - - 4245_20:31756971-31756971 T>A_MLQLWKHVLLCGVLTGTSE 0.0 X:107979147-107979147 G>A 0.0 4266 COLORECTAL - - - 1 IRS4 uc004eoc.2,p.P143L|ENST00000372129,p.P143L|NM_003604,p.P143L protein_coding uc004eoc.2 nonsynonymous SNV exon1 c.C428T p.P143L AAASGAAIPPLIPPRRVITLYQCFS AAASGAAIPPLILPRRVITLYQCFS 3.0 5.0 - - 4266_X:107979147-107979147 G>A_AAASGAAIPPLILPRRVITLYQCFS 0.0 3:37493890-37493890 G>A 1.0 4317 COLORECTAL - - - - ITGA9 ENST00000264741,p.G9S|uc003chd.3,p.G9S|ENST00000422441,p.G9S|uc003chc.3,p.G9S|NM_002207,p.G9S retained_intron, protein_coding uc003chd.3 nonsynonymous SNV exon1 c.G25A p.G9S MGGPAAPRGAGRLRALLLALV MGGPAAPRSAGRLRALLLALV 10.0 7.0 - - 4317_3:37493890-37493890 G>A_MGGPAAPRSAGRLRALLLALV 0.0 X:54784940-54784940 G>A 0.0 4158 COLORECTAL - - - - ITIH6 ENST00000218436,p.R523C|NM_198510,p.R523C|uc004dtj.2,p.R523C protein_coding, processed_transcript uc004dtj.2 nonsynonymous SNV exon8 c.C1567T p.R523C PGKQELGIHLAARGPKDQLLVAHHS PGKQELGIHLAACGPKDQLLVAHHS 1.0 4.0 - - 4158_X:54784940-54784940 G>A_PGKQELGIHLAACGPKDQLLVAHHS 0.0 12:133698183-133698183 G>A 1.0 3903 MELANOMA - - - - ZNF891 uc031qkn.1,p.P108S|ENST00000537226,p.P108S|ENST00000397313,p.P108S|NM_001277291,p.P108S|uc031qkm.1,p.P108S protein_coding uc031qkn.1 nonsynonymous SNV exon1 c.C322T p.P108S DQEEIRNMKKRIPQAICPDQKIQPK DQEEIRNMKKRISQAICPDQKIQPK 4.0 3.0 - - 3903_12:133698183-133698183 G>A_DQEEIRNMKKRISQAICPDQKIQPK 0.0 11:62298739-62298739 C>A 1.0 4244 COLORECTAL - - - - AHNAK NM_001620,p.L1050F|ENST00000378024,p.L1050F|uc001ntl.3,p.L1050F protein_coding, processed_transcript uc001ntl.3 nonsynonymous SNV exon5 c.G3150T p.L1050F APDLSLEGPEGKLKGPKFKMPEMHF APDLSLEGPEGKFKGPKFKMPEMHF 9.0 2.0 - - 4244_11:62298739-62298739 C>A_APDLSLEGPEGKFKGPKFKMPEMHF 0.0 6:21595145-21595145 A>C 1.0 4317 COLORECTAL - - - - SOX4 NM_003107,p.K127T|uc003ndi.3,p.K127T|ENST00000543472,p.K127T|ENST00000244745,p.K127T protein_coding uc003ndi.3 nonsynonymous SNV exon1 c.A380C p.K127T LRLKHMADYPDYKYRPRKKVKSGNA LRLKHMADYPDYTYRPRKKVKSGNA 9.0 2.0 - - 4317_6:21595145-21595145 A>C_LRLKHMADYPDYTYRPRKKVKSGNA 0.0 3:52547920-52547920 G>A 0.0 2591 MELANOMA - - - - STAB1 uc003dej.3,p.D1124N|NM_015136,p.D1124N|ENST00000321725,p.D1124N retained_intron, protein_coding uc003dej.3 nonsynonymous SNV exon32 c.G3370A p.D1124N HILSQVLLPPRGDVPGGQGLLQQLD HILSQVLLPPRGNVPGGQGLLQQLD 2.0 9.0 - - 2591_3:52547920-52547920 G>A_HILSQVLLPPRGNVPGGQGLLQQLD 0.0 7:106830701-106830701 C>T 1.0 3795 MELANOMA - - - - HBP1 NM_012257,p.P336S|NM_001244262,p.P346S|ENST00000485846,p.P336S|ENST00000468410,p.P336S|uc003vdy.3,p.P336S|uc003vdz.3,p.P336S|uc003veb.1,p.P336S|ENST00000222574,p.P336S|uc003vea.3,p.P336S|ENST00000498408,p.P328S|uc011klv.2,p.P346S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011klv.2 nonsynonymous SNV exon8 c.C1036T p.P346S PCCEVHIGDVCLPPGHPDAINFDDS PCCEVHIGDVCLSPGHPDAINFDDS 8.0 6.0 - - 3795_7:106830701-106830701 C>T_PCCEVHIGDVCLSPGHPDAINFDDS 0.0 12:8212190-8212190 C>G 0.0 4134 NSCLC - - - - C3AR1 ENST00000307637,p.E198Q|uc021quj.1,p.E198Q|uc001qtv.1,p.E198Q|NM_004054,p.E198Q protein_coding uc021quj.1 nonsynonymous SNV exon1 c.G592C p.E198Q DFYGDPLENRSLENIVQPPGEMNDR DFYGDPLENRSLQNIVQPPGEMNDR 7.0 3.0 - - 4134_12:8212190-8212190 C>G_DFYGDPLENRSLQNIVQPPGEMNDR 0.0 1:181767510-181767510 C>T 0.0 3903 MELANOMA - - - - CACNA1E ENST00000358338,p.P2050L|ENST00000526775,p.P2099L|ENST00000360108,p.P2142L|NM_000721,p.P2118L|ENST00000367570,p.P2118L|uc009wxt.3,p.P2161L|NM_001205293,p.P2161L|NM_001205294,p.P2099L|uc009wxs.3,p.P2099L|uc001gow.3,p.P2118L|ENST00000367573,p.P2161L|ENST00000367567,p.P1725L|ENST00000357570,p.P2112L retained_intron, protein_coding uc009wxt.3 nonsynonymous SNV exon48 c.C6482T p.P2161L TSTPRRSRRQLPPVPPKPRPLLSYS TSTPRRSRRQLPLVPPKPRPLLSYS 1.0 10.0 - - 3903_1:181767510-181767510 C>T_TSTPRRSRRQLPLVPPKPRPLLSYS 0.0 11:66625319-66625319 C>G 1.0 4345 COLORECTAL - - - - LRFN4 uc001ojr.3,p.A35G|uc001ojq.1,p.A35G|ENST00000309602,p.A35G|NM_024036,p.A35G|ENST00000393952,p.A35G protein_coding, processed_transcript uc001ojr.3 nonsynonymous SNV exon1 c.C104G p.A35G CQNLSESLSTLCAHRGLLFVPPNVD CQNLSESLSTLCGHRGLLFVPPNVD 6.0 2.0 - - 4345_11:66625319-66625319 C>G_CQNLSESLSTLCGHRGLLFVPPNVD 0.0 3:151046649-151046661 AGCCAAAGTATTC>- 0.0 4326 BREAST - - - - P2RY13 uc003eyv.2,p.L61fs|NM_176894,p.L61fs|ENST00000325602,p.L61fs protein_coding uc003eyv.2 frameshift deletion exon2 c.183_195del p.L61fs ALYTVVFLTGILLNTLALWVFVHIPS ALYTVVFLTGILLCGCLFTSPAPPPSSSTSKTLWWPT 5.0 2.0 - - 4326_3:151046649-151046661 AGCCAAAGTATTC>-_ALYTVVFLTGILLCGCLFTSPAPPPSSSTSKTLWWPT 0.0 9:109690138-109690138 G>T 0.0 4238 COLORECTAL - - - - ZNF462 ENST00000374686,p.E198D|uc004bcz.3,p.E1315D|ENST00000441147,p.E160D|NM_021224,p.E1315D|uc004bda.3,p.E1163D|ENST00000457913,p.E1315D|ENST00000277225,p.E1315D|uc010mto.3,p.E1163D protein_coding, processed_transcript uc010mto.3 nonsynonymous SNV exon1 c.G3489T p.E1163D FLDGLIEAGYHCEWCIYSHTEPNGL FLDGLIEAGYHCDWCIYSHTEPNGL 6.0 5.0 - - 4238_9:109690138-109690138 G>T_FLDGLIEAGYHCDWCIYSHTEPNGL 0.0 14:58724647-58724647 T>G 1.0 4071 COLORECTAL - - - - PSMA3 ENST00000412908,p.L112R|ENST00000557508,p.L37R|uc001xdj.2,p.L112R|uc021rtt.1,p.L37R|NM_002788,p.L112R|NM_152132,p.L112R|uc001xdk.2,p.L112R|ENST00000216455,p.L112R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021rtt.1 nonsynonymous SNV exon4 c.T110G p.L37R RSNFGYNIPLKHLADRVAMYVHAYT RSNFGYNIPLKHRADRVAMYVHAYT 10.0 7.0 - - 4071_14:58724647-58724647 T>G_RSNFGYNIPLKHRADRVAMYVHAYT 0.0 6:28093324-28093324 C>T 0.0 3775 CERVICAL - - - - ZSCAN16 ENST00000340487,p.H35Y|uc011dky.1,p.H35Y|NM_025231,p.H35Y|uc003nkm.3,p.H35Y protein_coding uc011dky.1 nonsynonymous SNV exon2 c.C103T p.H35Y WGQDSSSQKCSPHRRELYRQHFRKL WGQDSSSQKCSPYRRELYRQHFRKL 5.0 7.0 - - 3775_6:28093324-28093324 C>T_WGQDSSSQKCSPYRRELYRQHFRKL 0.0 5:139216788-139216788 G>A 1.0 4317 COLORECTAL - - ID=COSM1061577;OCCURENCE=1(endometrium) - PSD2 ENST00000274710,p.A544T|NM_032289,p.A544T|uc003leu.1,p.A544T protein_coding uc003leu.1 nonsynonymous SNV exon11 c.G1630A p.A544T TPRGRRGWKKFYAVLKGTILYLQKD TPRGRRGWKKFYTVLKGTILYLQKD 4.0 10.0 - - 4317_5:139216788-139216788 G>A_TPRGRRGWKKFYTVLKGTILYLQKD 0.0 7:98581730-98581730 T>A 1.0 3713 MELANOMA - - - 1 TRRAP uc011kis.2,p.Y2988N|ENST00000355540,p.Y2988N|uc003upr.3,p.Y2705N|ENST00000446306,p.Y2988N|NM_003496,p.Y2988N retained_intron, protein_coding uc011kis.2 nonsynonymous SNV exon59 c.T8962A p.Y2988N WRQHHYQAIVTAYENSSQHDPSSNN WRQHHYQAIVTANENSSQHDPSSNN 5.0 9.0 - - 3713_7:98581730-98581730 T>A_WRQHHYQAIVTANENSSQHDPSSNN 0.0 15:33893638-33893638 T>A 0.0 4258 ENDOMETRIAL - - - - RYR3 uc010bar.3,p.S603T|uc001zhi.3,p.S603T|NM_001243996,p.S603T|ENST00000415757,p.S603T|NM_001036,p.S603T|ENST00000389232,p.S603T retained_intron, protein_coding, processed_transcript uc010bar.3 nonsynonymous SNV exon17 c.T1807A p.S603T HGRNHKVLDILCSLCLCNGVAVRAN HGRNHKVLDILCTLCLCNGVAVRAN 3.0 8.0 - - 4258_15:33893638-33893638 T>A_HGRNHKVLDILCTLCLCNGVAVRAN 0.0 8:143570702-143570702 C>T 1.0 4298 COLORECTAL 0.0005 - - - BAI1 uc003ywm.3,p.T845M|ENST00000521208,p.T845M|ENST00000323289,p.T845M|ENST00000517894,p.T845M|NM_001702,p.T845M retained_intron, protein_coding, nonsense_mediated_decay uc003ywm.3 nonsynonymous SNV exon15 c.C2534T p.T845M RNLGSFLALQRNTTVLNSKVISVTV RNLGSFLALQRNMTVLNSKVISVTV 5.0 9.0 - - 4298_8:143570702-143570702 C>T_RNLGSFLALQRNMTVLNSKVISVTV 0.0 14:24608783-24608783 C>G 1.0 4234 NSCLC - - - - EMC9 ENST00000560403,p.E32Q|NM_016049,p.E106Q|uc001wmi.3,p.E106Q|ENST00000419198,p.E106Q|ENST00000216799,p.E106Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001wmi.3 nonsynonymous SNV exon4 c.G316C p.E106Q GPLALKIAGRIAEFFPDAVLIMLDN GPLALKIAGRIAQFFPDAVLIMLDN 8.0 9.0 - - 4234_14:24608783-24608783 C>G_GPLALKIAGRIAQFFPDAVLIMLDN 0.0 11:9182268-9182268 C>G 1.0 4234 NSCLC - - - - DENND5A ENST00000526707,p.V786L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000526707 nonsynonymous SNV exon11 c.G2356C p.V786L DLLERIWSHGLQVKQEYFLIQNVGS DLLERIWSHGLQLKQEYFLIQNVGS 9.0 9.0 - - 4234_11:9182268-9182268 C>G_DLLERIWSHGLQLKQEYFLIQNVGS 0.0 10:26506796-26506798 GCC>- 0.0 4284 COLORECTAL - - - - GAD2 uc001isq.2,p.54_55del|NM_001134366,p.54_55del|ENST00000376261,p.54_55del|uc001isp.2,p.54_55del|uc009xkr.3,p.54_55del|NM_000818,p.54_55del|ENST00000259271,p.54_55del|ENST00000428517,p.54_55del protein_coding uc009xkr.3 nonframeshift deletion exon3 c.162_164del p.54_55del NKLCALLYGDAEKPAESGGSQPPRA NKLCALLYGDAEKAESGGSQPPRAA 3.0 2.0 - - 4284_10:26506796-26506798 GCC>-_NKLCALLYGDAEKAESGGSQPPRAA 0.0 12:21242969-21242969 G>T 1.0 4234 NSCLC - - - - SLCO1B7 uc010sim.2,p.V665L|uc010sin.2,p.V618L|ENST00000553473,p.V726L|ENST00000421593,p.V618L|ENST00000554957,p.V665L|NM_001009562,p.V618L|uc010sil.2,p.V726L|ENST00000540229,p.V726L|ENST00000381541,p.V665L protein_coding, nonsense_mediated_decay uc010sin.2 nonsynonymous SNV exon13 c.G1852T p.V618L GKDTKVLENERQVMDEANLEFLNDS GKDTKVLENERQLMDEANLEFLNDS 7.0 8.0 - - 4234_12:21242969-21242969 G>T_GKDTKVLENERQLMDEANLEFLNDS 0.0 1:152325064-152325064 T>G 0.0 4258 ENDOMETRIAL - - - - FLG2 uc001ezw.4,p.D1733A|NM_001014342,p.D1733A|ENST00000388718,p.D1733A protein_coding uc001ezw.4 nonsynonymous SNV exon3 c.A5198C p.D1733A TGRRGSGHSEYSDSEGYSGVSHTHS TGRRGSGHSEYSASEGYSGVSHTHS 1.0 5.0 - - 4258_1:152325064-152325064 T>G_TGRRGSGHSEYSASEGYSGVSHTHS 0.0 7:7636032-7636032 C>T 1.0 3713 MELANOMA - - - - MIOS uc003srg.3,p.P316S|ENST00000340080,p.P781S|NM_019005,p.P781S|uc010ktq.3,p.P176S|uc003srf.3,p.P781S|ENST00000405785,p.P781S retained_intron, protein_coding, processed_transcript uc010ktq.3 nonsynonymous SNV exon5 c.C526T p.P176S KSKVTSCPGCRKPLPRCALCLINMG KSKVTSCPGCRKSLPRCALCLINMG 7.0 8.0 - - 3713_7:7636032-7636032 C>T_KSKVTSCPGCRKSLPRCALCLINMG 0.0 5:140605446-140605446 G>A 0.0 4235 COLORECTAL - - ID=COSM1062841;OCCURENCE=1(central_nervous_system),1(urinary_tract),1(large_intestine),1(endometrium) - PCDHB14 uc003ljb.3,p.R790Q|ENST00000515856,p.R637Q|NM_018934,p.R790Q|ENST00000239449,p.R790Q protein_coding uc003ljb.3 nonsynonymous SNV exon1 c.G2369A p.R790Q DTGRNMGEIENFRNSFGLNIQ DTGRNMGEIENFQNSFGLNIQ 8.0 6.0 - - 4235_5:140605446-140605446 G>A_DTGRNMGEIENFQNSFGLNIQ 0.0 14:24845660-24845660 A>C 1.0 4246 COLORECTAL - - - - NFATC4 ENST00000555453,p.E727D|uc010tor.2,p.E739D|ENST00000555167,p.E274D|ENST00000553879,p.E669D|ENST00000554661,p.E669D|NM_004554,p.E739D|uc010ton.2,p.E752D|NM_001288802,p.E727D|uc010too.2,p.E752D|NM_001198965,p.E739D|ENST00000557451,p.E669D|uc010alt.3,p.E771D|uc010tol.2,p.E802D|ENST00000556759,p.E274D|ENST00000554473,p.E274D|ENST00000554591,p.E802D|uc010tok.2,p.E802D|uc010alv.3,p.E727D|ENST00000554966,p.E752D|ENST00000557767,p.E27D|uc010tpa.2,p.E27D|ENST00000554050,p.E739D|uc010alr.3,p.E802D|uc010tox.2,p.E669D|NM_001198966,p.E669D|uc010toy.2,p.E274D|uc010toq.2,p.E771D|ENST00000539237,p.E771D|uc010tov.2,p.E727D|ENST00000555393,p.E27D|ENST00000554344,p.E669D|ENST00000422617,p.E727D|ENST00000553469,p.E771D|ENST00000555802,p.E27D|ENST00000556279,p.E771D|uc010top.2,p.E771D|ENST00000424781,p.E752D|NM_001136022,p.E802D|NM_001198967,p.E802D|uc010tom.2,p.E752D|uc001wpc.3,p.E739D|ENST00000555590,p.E752D|ENST00000250373,p.E739D|uc010tpb.2,p.E27D|uc010tot.2,p.E727D|ENST00000413692,p.E802D|uc010tos.2,p.E669D|ENST00000553708,p.E739D|uc001wpd.3,p.E274D|uc010toz.2,p.E274D|ENST00000556169,p.E727D|uc010tow.2,p.E669D|uc010tou.2,p.E669D retained_intron, protein_coding, processed_transcript uc010tpb.2 nonsynonymous SNV exon4 c.A81C p.E27D HEDPACETPYLSEGFGYGMPPLYPQ HEDPACETPYLSDGFGYGMPPLYPQ 10.0 5.0 - - 4246_14:24845660-24845660 A>C_HEDPACETPYLSDGFGYGMPPLYPQ 0.0 15:48413264-48413264 C>T 1.0 4000 MELANOMA - - ID=COSM1517173;OCCURENCE=1(lung) - SLC24A5 ENST00000449382,p.T8I|ENST00000482911,p.T8I|NM_205850,p.T8I|uc001zwd.3,p.T8I|uc010bel.3,p.T8I|uc001zwe.3,p.T8I|ENST00000341459,p.T8I retained_intron, protein_coding uc010bel.3 nonsynonymous SNV exon1 c.C23T p.T8I MQTKGGQTWARRALLLGILW MQTKGGQIWARRALLLGILW 10.0 9.0 - - 4000_15:48413264-48413264 C>T_MQTKGGQIWARRALLLGILW 0.0 1:160247932-160247932 A>G 1.0 4316 COLORECTAL - - - - PEX19 ENST00000485079,p.L159P protein_coding ENST00000485079 nonsynonymous SNV exon5 c.T476C p.L159P FFCGSQWVYGPWLTYVETGFTMLAW FFCGSQWVYGPWPTYVETGFTMLAW 7.0 7.0 - - 4316_1:160247932-160247932 A>G_FFCGSQWVYGPWPTYVETGFTMLAW 0.0 7:97822898-97822898 G>A 1.0 4335 COLORECTAL - - - - LMTK2 NM_014916,p.E1041K|uc003upd.2,p.E1041K|ENST00000297293,p.E1041K protein_coding, processed_transcript uc003upd.2 nonsynonymous SNV exon11 c.G3121A p.E1041K DSGYETENLESPEWTLHPAPEGTAD DSGYETENLESPKWTLHPAPEGTAD 7.0 6.0 - - 4335_7:97822898-97822898 G>A_DSGYETENLESPKWTLHPAPEGTAD 0.0 1:205899103-205899103 C>T 0.0 4287 COLORECTAL - - - - SLC26A9 uc001hdp.3,p.G212S|NM_052934,p.G212S|ENST00000367134,p.G212S|uc001hdq.3,p.G212S|NM_134325,p.G212S|ENST00000340781,p.G212S|ENST00000367135,p.G212S retained_intron, protein_coding uc001hdq.3 nonsynonymous SNV exon6 c.G634A p.G212S SESFIRGFMTAAGLQILISVLKYIF SESFIRGFMTAASLQILISVLKYIF 3.0 8.0 - - 4287_1:205899103-205899103 C>T_SESFIRGFMTAASLQILISVLKYIF 0.0 10:134038742-134038742 C>T 0.0 4110 BILE DUCT - - - - STK32C ENST00000368625,p.G304R|NM_173575,p.G291R|ENST00000298630,p.G291R|uc001lle.1,p.G291R|ENST00000462160,p.G230R|uc001lld.1,p.G174R|uc010quu.1,p.G304R|ENST00000368622,p.G174R protein_coding, processed_transcript, nonsense_mediated_decay uc010quu.1 nonsynonymous SNV exon7 c.G910A p.G304R WSVGVMAYELLRGWRPYDIHSSNAV WSVGVMAYELLRRWRPYDIHSSNAV 7.0 6.0 - - 4110_10:134038742-134038742 C>T_WSVGVMAYELLRRWRPYDIHSSNAV 0.0 5:131046328-131046328 G>A 1.0 4326 BREAST - - - - FNIP1 uc010jdm.1,p.R172W|ENST00000307954,p.R172W|uc003kvs.1,p.R217W|ENST00000510461,p.R217W|uc003kvu.3,p.R217W|ENST00000511848,p.R217W|NM_133372,p.R217W protein_coding uc010jdm.1 nonsynonymous SNV exon6 c.C514T p.R172W GNIGLSQFCSPRRAFSEQGPLRLIR GNIGLSQFCSPRWAFSEQGPLRLIR 9.0 10.0 - - 4326_5:131046328-131046328 G>A_GNIGLSQFCSPRWAFSEQGPLRLIR 0.0 19:57088263-57088263 T>A 0.0 3775 CERVICAL - - - - ZNF470 ENST00000330619,p.F156I|uc002qnl.4,p.F156I|ENST00000391709,p.F156I|NM_001001668,p.F156I protein_coding, processed_transcript uc002qnl.4 nonsynonymous SNV exon6 c.T466A p.F156I LFERELVNQKTHFRQETITHIDTLI LFERELVNQKTHIRQETITHIDTLI 3.0 8.0 - - 3775_19:57088263-57088263 T>A_LFERELVNQKTHIRQETITHIDTLI 0.0 12:58010123-58010123 C>T 1.0 4287 COLORECTAL - - - - ARHGEF25 uc001spb.4,p.R493W|NM_001111270,p.R532W|uc009zpy.4,p.R532W|ENST00000286494,p.R493W|uc001spa.4,p.R387W|NM_182947,p.R493W|ENST00000333972,p.R532W retained_intron, protein_coding, processed_transcript uc009zpy.4 nonsynonymous SNV exon15 c.C1594T p.R532W YQRRESQTNSLGRPRGPGVGSPGRI YQRRESQTNSLGWPRGPGVGSPGRI 6.0 9.0 - - 4287_12:58010123-58010123 C>T_YQRRESQTNSLGWPRGPGVGSPGRI 0.0 7:1589772-1589772 C>T 1.0 4320 COLORECTAL - - - - TMEM184A ENST00000319010,p.R180H|ENST00000297477,p.R180H|NM_001097620,p.R180H|uc003skv.4,p.R180H retained_intron, protein_coding, nonsense_mediated_decay uc003skv.4 nonsynonymous SNV exon5 c.G539A p.R180H CLRGMTYSIGFLRFCKQATLQFCLV CLRGMTYSIGFLHFCKQATLQFCLV 7.0 10.0 - - 4320_7:1589772-1589772 C>T_CLRGMTYSIGFLHFCKQATLQFCLV 0.0 8:144681971-144681971 A>T 1.0 4000 MELANOMA - - - - TIGD5 NM_032862,p.H633L|ENST00000504548,p.H633L|ENST00000321385,p.H584L|uc003yyx.2,p.H633L protein_coding uc003yyx.2 nonsynonymous SNV exon1 c.A1898T p.H633L LISMARRLGGIGHTPAGPYDGV LISMARRLGGIGLTPAGPYDGV 5.0 1.0 - - 4000_8:144681971-144681971 A>T_LISMARRLGGIGLTPAGPYDGV 0.0 1:95609556-95609556 A>C 0.0 4345 COLORECTAL - - - - TMEM56,TMEM56-RWDD3 NM_152487,p.K33N|NM_001199679,p.K33N|uc001drb.3,p.K33N|NM_001199691,p.K33N|ENST00000455656,p.K33N|uc001drd.4,p.K33N|ENST00000370203,p.K33N|ENST00000604534,p.K33N|ENST00000456991,p.K33N|uc021oqe.1,p.K33N protein_coding, processed_transcript uc021oqe.1 nonsynonymous SNV exon2 c.A99C p.K33N LLFYFVSYWFSAKVSPGFNSLSFKK LLFYFVSYWFSANVSPGFNSLSFKK 5.0 2.0 - - 4345_1:95609556-95609556 A>C_LLFYFVSYWFSANVSPGFNSLSFKK 0.0 12:49165747-49165747 C>T 1.0 3879 MELANOMA - - - - ADCY6 uc001rsi.4,p.E880K|uc010slw.1,p.E164K|uc001rsj.4,p.E933K|NM_020983,p.E880K|uc001rsh.4,p.E933K|NM_015270,p.E933K|ENST00000550422,p.E880K|ENST00000357869,p.E880K|ENST00000307885,p.E933K retained_intron, protein_coding, processed_transcript uc010slw.1 nonsynonymous SNV exon6 c.G490A p.E164K RLDFLWKLQATGEKEEMEELQAYNR RLDFLWKLQATGKKEEMEELQAYNR 7.0 3.0 - - 3879_12:49165747-49165747 C>T_RLDFLWKLQATGKKEEMEELQAYNR 0.0 14:80963862-80963862 C>T 1.0 3713 MELANOMA - - - - CEP128 ENST00000555265,p.G1082E|uc031qpo.1,p.G1109E|ENST00000281129,p.G1082E|uc001xux.2,p.G1082E|NM_152446,p.G1082E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031qpo.1 nonsynonymous SNV exon26 c.G3326A p.G1109E DSASNKEDATMNGTSSQPKKEEYGS DSASNKEDATMNETSSQPKKEEYGS 4.0 9.0 - - 3713_14:80963862-80963862 C>T_DSASNKEDATMNETSSQPKKEEYGS 0.0 11:95712840-95712840 C>T 1.0 4244 COLORECTAL - - - 1 MAML2 uc001pfw.1,p.G915R|ENST00000524717,p.G915R|NM_032427,p.G915R protein_coding uc001pfw.1 nonsynonymous SNV exon5 c.G2743A p.G915R QNNPMMPRPPTLGPSNNNNVATFGA QNNPMMPRPPTLRPSNNNNVATFGA 6.0 6.0 - - 4244_11:95712840-95712840 C>T_QNNPMMPRPPTLRPSNNNNVATFGA 0.0 19:6307240-6307240 G>C 0.0 4213 COLORECTAL - - - - ACER1 uc002mel.2,p.L184V|NM_133492,p.L184V|ENST00000301452,p.L184V protein_coding uc002mel.2 nonsynonymous SNV exon5 c.C550G p.L184V LIEVSVVLWAVALTSWISDRLLCSF LIEVSVVLWAVAVTSWISDRLLCSF 2.0 7.0 - - 4213_19:6307240-6307240 G>C_LIEVSVVLWAVAVTSWISDRLLCSF 0.0 14:35554813-35554813 C>T 1.0 4278 COLORECTAL - - - - PPP2R3C NM_017917,p.D449N|ENST00000555219,p.D124N|uc010tpr.2,p.D333N|uc001wst.3,p.D333N|ENST00000261475,p.D449N|uc001wss.3,p.D449N retained_intron, protein_coding, nonsense_mediated_decay uc010tpr.2 nonsynonymous SNV exon13 c.G997A p.D333N EALVANDSENSADLDDT EALVANDSENSANLDDT 9.0 7.0 - - 4278_14:35554813-35554813 C>T_EALVANDSENSANLDDT 0.0 3:29910395-29910395 G>T 0.0 4316 COLORECTAL - - - - RBMS3 uc003cem.3,p.K227N|ENST00000445033,p.K228N|NM_001003793,p.K228N|ENST00000396583,p.K228N|ENST00000383766,p.K227N|NM_014483,p.K228N|NM_001003792,p.K227N|uc003cel.3,p.K228N|NM_001177712,p.K228N|ENST00000456853,p.K228N|uc010hfq.3,p.K228N|ENST00000434693,p.K227N|ENST00000452462,p.K228N|ENST00000383767,p.K228N|uc003cek.3,p.K228N|NM_001177711,p.K228N|uc010hfr.3,p.K228N|ENST00000273139,p.K228N retained_intron, protein_coding, processed_transcript uc010hfr.3 nonsynonymous SNV exon7 c.G684T p.K228N EPLLCKFADGGQKKRQNQSKYTQNG EPLLCKFADGGQNKRQNQSKYTQNG 5.0 8.0 - - 4316_3:29910395-29910395 G>T_EPLLCKFADGGQNKRQNQSKYTQNG 0.0 3:50211766-50211766 C>T 1.0 4180 BREAST - - - - SEMA3F ENST00000002829,p.R147C|NM_004186,p.R147C|uc003cyj.3,p.R147C retained_intron, protein_coding uc003cyj.3 nonsynonymous SNV exon5 c.C439T p.R147C TGAYNPMCTYVNRGRRAQATPWTQT TGAYNPMCTYVNCGRRAQATPWTQT 9.0 8.0 - - 4180_3:50211766-50211766 C>T_TGAYNPMCTYVNCGRRAQATPWTQT 0.0 19:34263554-34263554 C>G 0.0 4046 OVARIAN - - - - CHST8 ENST00000438847,p.I287M|ENST00000434302,p.I287M|uc002nus.4,p.I287M|ENST00000262622,p.I287M|NM_001127896,p.I287M|uc002nut.4,p.I287M|NM_022467,p.I287M|NM_001127895,p.I287M|uc002nuu.3,p.I287M protein_coding uc002nuu.3 nonsynonymous SNV exon4 c.C861G p.I287M PNSYYHPVFGKAILARYRANASREA PNSYYHPVFGKAMLARYRANASREA 2.0 6.0 - - 4046_19:34263554-34263554 C>G_PNSYYHPVFGKAMLARYRANASREA 0.0 18:77456034-77456034 G>A 1.0 3678 MELANOMA - - - - CTDP1 ENST00000590635,p.M33I|NM_004715,p.M152I|uc002lni.2,p.M152I|ENST00000075430,p.M152I|ENST00000591598,p.M84I|uc010drd.2,p.M152I|uc002lnh.2,p.M152I|NM_001202504,p.M33I|NM_048368,p.M152I|ENST00000299543,p.M152I|uc021ult.1,p.M33I retained_intron, protein_coding, processed_transcript uc021ult.1 nonsynonymous SNV exon3 c.G99A p.M33I KQQVPLSTATVSMVHSVPELMVSSE KQQVPLSTATVSIVHSVPELMVSSE 6.0 7.0 - - 3678_18:77456034-77456034 G>A_KQQVPLSTATVSIVHSVPELMVSSE 0.0 19:57325314-57325314 T>A 0.0 4129 NSCLC - - - - PEG3 ENST00000423103,p.Q1499L|uc002qnu.2,p.Q1499L|NM_001146184,p.Q1499L|NM_001146187,p.Q1375L|ENST00000326441,p.Q1499L|NM_006210,p.Q1499L|ENST00000593695,p.Q1373L|uc002qnx.2,p.Q1373L|uc002qnw.2,p.Q1375L|ENST00000599577,p.Q1499L|ENST00000599534,p.Q1499L|NM_001146185,p.Q1373L|uc010etr.2,p.Q1499L|uc002qnv.2,p.Q1499L|NM_001146186,p.Q1499L|uc002qnt.2,p.Q1470L|ENST00000598410,p.Q1375L protein_coding, processed_transcript uc010etr.2 nonsynonymous SNV exon9 c.A4496T p.Q1499L IEDPEEGEDQEIQVEEPYYDCHECT IEDPEEGEDQEILVEEPYYDCHECT 4.0 6.0 - - 4129_19:57325314-57325314 T>A_IEDPEEGEDQEILVEEPYYDCHECT 0.0 1:21808184-21808184 C>T 0.0 4160 COLORECTAL - - - - NBPF3 uc001bes.4,p.P454S|ENST00000434838,p.P454S|ENST00000454000,p.P440S|NM_001256417,p.P440S|ENST00000342104,p.P498S|ENST00000318249,p.P510S|uc001ber.4,p.P510S|uc009vqb.4,p.P498S|uc010odm.3,p.P440S|NM_001256416,p.P498S|NM_032264,p.P510S|ENST00000318220,p.P454S protein_coding, processed_transcript uc010odm.3 nonsynonymous SNV exon12 c.C1318T p.P440S RWYSTPFSYPELPDSCQPYGSCFYS RWYSTPFSYPELSDSCQPYGSCFYS 4.0 1.0 - - 4160_1:21808184-21808184 C>T_RWYSTPFSYPELSDSCQPYGSCFYS 0.0 5:140237240-140237240 C>T 0.0 4346 COLORECTAL - - ID=COSM3393217,COSM736163,COSM736164;OCCURENCE=1(lung),1(pancreas),1(large_intestine) - PCDHA10 uc011dad.2,p.A536V|uc003lhx.2,p.A536V|NM_031859,p.A536V|ENST00000307360,p.A536V|NM_018901,p.A536V protein_coding uc011dad.2 nonsynonymous SNV exon1 c.C1607T p.A536V HEELELLQFQVSARDGGVPPLGSNL HEELELLQFQVSVRDGGVPPLGSNL 3.0 5.0 - - 4346_5:140237240-140237240 C>T_HEELELLQFQVSVRDGGVPPLGSNL 0.0 22:38690408-38690408 G>A 1.0 4238 COLORECTAL - - - - CSNK1E ENST00000403904,p.R340W|NM_152221,p.R340W|ENST00000400206,p.R340W|ENST00000359867,p.R340W|ENST00000396832,p.R340W|uc003avm.2,p.R340W|NM_001894,p.R340W|uc003avk.3,p.R340W|uc003avj.3,p.R340W|NM_001289912,p.R340W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003avm.2 nonsynonymous SNV exon12 c.C1018T p.R340W LPPGPPTGATANRLRSAAEPVASTP LPPGPPTGATANWLRSAAEPVASTP 10.0 8.0 - - 4238_22:38690408-38690408 G>A_LPPGPPTGATANWLRSAAEPVASTP 0.0 9:127119146-127119146 A>G 1.0 4180 BREAST - - - - PSMB7 uc004boj.4,p.F207L|NM_002799,p.F207L|ENST00000259457,p.F207L protein_coding, processed_transcript uc004boj.4 nonsynonymous SNV exon7 c.T619C p.F207L KNLVSEAIAAGIFNDLGSGSNIDLC KNLVSEAIAAGILNDLGSGSNIDLC 10.0 9.0 - - 4180_9:127119146-127119146 A>G_KNLVSEAIAAGILNDLGSGSNIDLC 0.0 9:43625984-43625984 C>A 0.0 4259 COLORECTAL - - - - SPATA31A6 ENST00000332857,p.W901C|NM_001145196,p.W901C|uc011lrb.2,p.W901C protein_coding, processed_transcript uc011lrb.2 nonsynonymous SNV exon4 c.G2703T p.W901C KQFQRAPRGIPSWNDHGPLKPPPAG KQFQRAPRGIPSCNDHGPLKPPPAG 1.0 10.0 - - 4259_9:43625984-43625984 C>A_KQFQRAPRGIPSCNDHGPLKPPPAG 0.0 18:34752963-34752963 C>A 1.0 4110 BILE DUCT 0.0005 - - - KIAA1328 uc002lac.1,p.A340E|ENST00000280020,p.A481E|uc002kzz.3,p.A481E|ENST00000586135,p.A233E|ENST00000591619,p.A477E|ENST00000435985,p.A233E|ENST00000543923,p.A373E|NM_020776,p.A481E|uc002lab.3,p.A233E protein_coding, processed_transcript, nonsense_mediated_decay uc002lac.1 nonsynonymous SNV exon5 c.C1019A p.A340E PQRGTVTGVRKDASTSPMPTGSLKD PQRGTVTGVRKDESTSPMPTGSLKD 6.0 10.0 - - 4110_18:34752963-34752963 C>A_PQRGTVTGVRKDESTSPMPTGSLKD 0.0 7:99473836-99473836 G>T 0.0 4266 COLORECTAL - - - - OR2AE1 NM_001005276,p.S274Y|ENST00000316368,p.S274Y|uc003usc.1,p.S274Y protein_coding uc003usc.1 nonsynonymous SNV exon1 c.C821A p.S274Y RSQCTLLQNKVGSVFYSIITPTLNS RSQCTLLQNKVGYVFYSIITPTLNS 2.0 10.0 - - 4266_7:99473836-99473836 G>T_RSQCTLLQNKVGYVFYSIITPTLNS 0.0 10:118390759-118390759 G>C 0.0 3775 CERVICAL - - - - PNLIPRP2 ENST00000537242,p.M236I retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene ENST00000537242 nonsynonymous SNV exon9 c.G708C p.M236I DSSPIVPSLGFGMSQKVGHLDFFPN DSSPIVPSLGFGISQKVGHLDFFPN 1.0 5.0 - - 3775_10:118390759-118390759 G>C_DSSPIVPSLGFGISQKVGHLDFFPN 0.0 9:36651812-36651812 C>T 1.0 3466 MELANOMA - - - - MELK ENST00000541717,p.R331C|NM_001256693,p.R137C|uc011lpr.3,p.R260C|uc011lps.3,p.R251C|ENST00000545008,p.R260C|uc011lpn.3,p.R331C|NM_001256685,p.R331C|uc010mll.4,p.R299C|uc011lpq.3,p.R137C|NM_001256687,p.R283C|NM_001256690,p.R260C|uc011lpp.3,p.R283C|NM_001256692,p.R200C|NM_001256691,p.R251C|uc011lpm.3,p.R200C|uc011lpo.3,p.R137C|NM_001256689,p.R299C|NM_014791,p.R331C|ENST00000536860,p.R283C|uc003zzn.4,p.R331C|ENST00000536987,p.R200C|ENST00000536329,p.R260C|NM_001256688,p.R260C|uc010mlm.4,p.R260C|ENST00000543751,p.R299C|ENST00000538311,p.R137C|ENST00000298048,p.R331C protein_coding, processed_transcript uc011lps.3 nonsynonymous SNV exon10 c.C751T p.R251C LLLAKKARGKPVRLRLSSFSCGQAS LLLAKKARGKPVCLRLSSFSCGQAS 6.0 9.0 - - 3466_9:36651812-36651812 C>T_LLLAKKARGKPVCLRLSSFSCGQAS 0.0 4:164621984-164621984 C>T 0.0 2369 MELANOMA 0.0005 - - - MARCH1 ENST00000274056,p.R48Q|ENST00000514618,p.R48Q|ENST00000503008,p.R48Q|ENST00000507270,p.R48Q|NM_001166373,p.R48Q|uc003iqs.2,p.R48Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003iqs.2 nonsynonymous SNV exon4 c.G143A p.R48Q TLNEKSPGRSASRSSNISKASSPTT TLNEKSPGRSASQSSNISKASSPTT 4.0 7.0 - - 2369_4:164621984-164621984 C>T_TLNEKSPGRSASQSSNISKASSPTT 0.0 12:50472303-50472303 G>A 0.0 4155 MELANOMA - - - - ASIC1 uc009zlo.4,p.D313N|ENST00000228468,p.D313N|uc001rvw.4,p.D313N|NM_001256830,p.D347N|uc001rvv.4,p.D313N|ENST00000447966,p.D313N|uc031qhf.1,p.D216N|uc009zln.4,p.D104N|NM_020039,p.D313N|uc021qxr.2,p.D347N|ENST00000552438,p.D347N|NM_001095,p.D313N retained_intron, protein_coding, nonsense_mediated_decay uc031qhf.1 nonsynonymous SNV exon5 c.G646A p.D216N FFDSYSITACRIDCETRYLVENCNC FFDSYSITACRINCETRYLVENCNC 4.0 8.0 - - 4155_12:50472303-50472303 G>A_FFDSYSITACRINCETRYLVENCNC 0.0 1:240256230-240256230 C>T 0.0 3775 CERVICAL - - - - FMN2 uc010pyd.2,p.S274F|ENST00000319653,p.S274F|uc010pye.2,p.S274F|NM_020066,p.S274F protein_coding, processed_transcript uc010pye.2 nonsynonymous SNV exon1 c.C821T p.S274F EAPGSPDTEQALSALSDLPESLAAE EAPGSPDTEQALFALSDLPESLAAE 2.0 7.0 - - 3775_1:240256230-240256230 C>T_EAPGSPDTEQALFALSDLPESLAAE 0.0 5:3596480-3596480 C>A 0.0 4213 COLORECTAL - - - - IRX1 uc003jde.3,p.S87R|ENST00000302006,p.S87R|NM_024337,p.S87R protein_coding uc003jde.3 nonsynonymous SNV exon1 c.C261A p.S87R NYSAFLPYAADLSLFSQMGSQYELK NYSAFLPYAADLRLFSQMGSQYELK 4.0 7.0 - - 4213_5:3596480-3596480 C>A_NYSAFLPYAADLRLFSQMGSQYELK 0.0 8:145726639-145726639 C>A 1.0 4180 BREAST - - - - PPP1R16A NM_032902,p.R389S|uc003zdd.3,p.R389S|ENST00000292539,p.R389S|ENST00000435887,p.R389S|uc003zdf.3,p.R389S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003zdf.3 nonsynonymous SNV exon9 c.C1165A p.R389S PTSPEPPEDNDDRQTGAELRPPPPE PTSPEPPEDNDDSQTGAELRPPPPE 10.0 7.0 - - 4180_8:145726639-145726639 C>A_PTSPEPPEDNDDSQTGAELRPPPPE 0.0 9:130707841-130707841 C>T 1.0 4317 COLORECTAL - - - - FAM102A ENST00000373095,p.G241D|uc004bsx.2,p.G241D|NM_001035254,p.G241D|uc004bsw.1,p.G99D|ENST00000373084,p.G99D|NM_203305,p.G99D retained_intron, protein_coding, processed_transcript uc004bsx.2 nonsynonymous SNV exon8 c.G722A p.G241D NSSYASQQSKISGYSTEHSRSSSLS NSSYASQQSKISDYSTEHSRSSSLS 9.0 9.0 - - 4317_9:130707841-130707841 C>T_NSSYASQQSKISDYSTEHSRSSSLS 0.0 3:178968705-178968705 G>A 1.0 3775 CERVICAL - - - - KCNMB3 uc003fjm.3,p.S29L|ENST00000314235,p.S29L|NM_014407,p.S29L protein_coding, processed_transcript, nonsense_mediated_decay uc003fjm.3 nonsynonymous SNV exon2 c.C86T p.S29L ILLTRHRTAFPASGKKRETDYSDGD ILLTRHRTAFPALGKKRETDYSDGD 6.0 10.0 - - 3775_3:178968705-178968705 G>A_ILLTRHRTAFPALGKKRETDYSDGD 0.0 7:100686642-100686642 C>G 1.0 4213 COLORECTAL - - - - MUC17 NM_001040105,p.T3982S|ENST00000379439,p.T3982S|uc003uxp.1,p.T3982S|ENST00000306151,p.T3982S retained_intron, protein_coding, nonsense_mediated_decay uc003uxp.1 nonsynonymous SNV exon3 c.C11945G p.T3982S ELNTPSTSSSSTTTSFSTTKEFTTP ELNTPSTSSSSTSTSFSTTKEFTTP 6.0 2.0 - - 4213_7:100686642-100686642 C>G_ELNTPSTSSSSTSTSFSTTKEFTTP 0.0 19:10449579-10449579 G>A 0.0 3466 MELANOMA - - - - ICAM3 NM_002162,p.P41L|ENST00000160262,p.P41L|uc002mob.2,p.P41L retained_intron, protein_coding, nonsense_mediated_decay uc002mob.2 nonsynonymous SNV exon2 c.C122T p.P41L GQEFLLRVEPQNPVLSAGGSLFVNC GQEFLLRVEPQNLVLSAGGSLFVNC 4.0 8.0 - - 3466_19:10449579-10449579 G>A_GQEFLLRVEPQNLVLSAGGSLFVNC 0.0 4:41682037-41682037 G>T 1.0 3713 MELANOMA - - - - LIMCH1 ENST00000512632,p.K717N|uc003gwe.4,p.K717N protein_coding, processed_transcript uc003gwe.4 nonsynonymous SNV exon16 c.G2151T p.K717N VELVLSQKERYQKEQDKLKEEWEKA VELVLSQKERYQNEQDKLKEEWEKA 4.0 4.0 - - 3713_4:41682037-41682037 G>T_VELVLSQKERYQNEQDKLKEEWEKA 0.0 19:11493888-11493888 C>A 1.0 4287 COLORECTAL - - - - EPOR NM_000121,p.G46W|ENST00000592375,p.G46W|uc002mrj.2,p.G46W|ENST00000586890,p.G46W|ENST00000222139,p.G46W|ENST00000588859,p.G46W retained_intron, protein_coding, nonsense_mediated_decay uc002mrj.2 nonsynonymous SNV exon2 c.G136T p.G46W KFESKAALLAARGPEELLCFTERLE KFESKAALLAARWPEELLCFTERLE 5.0 10.0 - - 4287_19:11493888-11493888 C>A_KFESKAALLAARWPEELLCFTERLE 0.0 13:95112365-95112365 C>T 0.0 4346 COLORECTAL - - - - DCT ENST00000446125,p.A387T|uc010afh.3,p.A387T|NM_001129889,p.A387T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010afh.3 nonsynonymous SNV exon6 c.G1159A p.A387T FLNGTNALPHSAANDPIFVVISNRL FLNGTNALPHSATNDPIFVVISNRL 2.0 1.0 - - 4346_13:95112365-95112365 C>T_FLNGTNALPHSATNDPIFVVISNRL 0.0 14:70990676-70990676 G>A 0.0 4301 MELANOMA - - - - ADAM20 NM_003814,p.P317S|uc021rvs.1,p.P317S|uc001xme.3,p.P317S|ENST00000256389,p.P317S protein_coding uc021rvs.1 nonsynonymous SNV exon1 c.C949T p.P317S TGIDIWTASNPLPTSGDLDNVLEDF TGIDIWTASNPLSTSGDLDNVLEDF 4.0 1.0 - - 4301_14:70990676-70990676 G>A_TGIDIWTASNPLSTSGDLDNVLEDF 0.0 17:15516939-15516939 G>A 0.0 2556 MELANOMA - - - - CDRT1 ENST00000395906,p.T330I|NM_006382,p.T330I|NM_001282540,p.T330I|ENST00000455584,p.T640I|uc002gor.1,p.T640I|uc002gov.4,p.T330I retained_intron, protein_coding, nonsense_mediated_decay uc002gov.4 nonsynonymous SNV exon4 c.C989T p.T330I DLSAHGFIQNQITFLQGSYTRGIDP DLSAHGFIQNQIIFLQGSYTRGIDP 3.0 4.0 - - 2556_17:15516939-15516939 G>A_DLSAHGFIQNQIIFLQGSYTRGIDP 0.0 9:75542087-75542087 T>A 0.0 3775 CERVICAL - - - - ALDH1A1 ENST00000446946,p.N150I|ENST00000419959,p.N150I|NM_000689,p.N150I|uc011lsh.2,p.N71I|uc004ajd.3,p.N150I|ENST00000376939,p.N150I|ENST00000297785,p.N150I protein_coding, processed_transcript uc011lsh.2 nonsynonymous SNV exon5 c.A212T p.N71I DKIQGRTIPIDGNFFTYTRHEPIGV DKIQGRTIPIDGIFFTYTRHEPIGV 10.0 7.0 CD8 - 3775_9:75542087-75542087 T>A_DKIQGRTIPIDGIFFTYTRHEPIGV 1.0 15:78486915-78486915 T>A 0.0 4149 OVARIAN - - - - ACSBG1 ENST00000559114,p.K22M|ENST00000558130,p.K129M|uc002bdh.3,p.K129M|NM_001199377,p.K129M|NM_015162,p.K129M|ENST00000559241,p.K137M|uc010umy.2,p.K22M|uc010umw.2,p.K129M|ENST00000258873,p.K129M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010umy.2 nonsynonymous SNV exon2 c.A65T p.K22M GDLIALGFKRQDKWEHISYSQYYLL GDLIALGFKRQDMWEHISYSQYYLL 3.0 4.0 - - 4149_15:78486915-78486915 T>A_GDLIALGFKRQDMWEHISYSQYYLL 0.0 10:112838383-112838383 G>T 1.0 4266 COLORECTAL - - - - ADRA2A NM_000681,p.W210L|uc001kzo.3,p.W210L|ENST00000280155,p.W210L protein_coding uc001kzo.3 nonsynonymous SNV exon1 c.G629T p.W210L PAEPRCEINDQKWYVISSCIGSFFA PAEPRCEINDQKLYVISSCIGSFFA 5.0 8.0 - - 4266_10:112838383-112838383 G>T_PAEPRCEINDQKLYVISSCIGSFFA 0.0 12:30827609-30827609 C>A 0.0 4234 NSCLC - - - - IPO8 ENST00000544829,p.A65S|NM_001190995,p.A65S|uc010sjt.2,p.A65S|ENST00000256079,p.A270S|ENST00000542464,p.A84S|uc001rjd.3,p.A270S|NM_006390,p.A270S protein_coding, processed_transcript, nonsense_mediated_decay uc010sjt.2 nonsynonymous SNV exon3 c.G193T p.A65S WWKCKKWALHIVARLFERYGSPGNV WWKCKKWALHIVSRLFERYGSPGNV 8.0 10.0 - - 4234_12:30827609-30827609 C>A_WWKCKKWALHIVSRLFERYGSPGNV 0.0 19:53611861-53611862 CA>- 1.0 4129 NSCLC - - - - ZNF415 uc010yds.2,p.V479fs|ENST00000601493,p.V249fs|uc002qba.3,p.V249fs|ENST00000421033,p.V491fs|uc010ydt.2,p.V479fs|NM_001164309,p.V479fs|ENST00000455735,p.V527fs|ENST00000448501,p.V527fs|NM_018355,p.V479fs|uc002qav.3,p.V491fs|uc002qax.3,p.V527fs|NM_001136038,p.V479fs|uc002qaz.3,p.V527fs|ENST00000440291,p.V466fs|uc002qaw.3,p.V479fs|ENST00000500065,p.V479fs|uc002qau.3,p.V466fs|ENST00000243643,p.V479fs|uc002qay.3,p.V466fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ydt.2 frameshift deletion exon4 c.1436_1437del p.V479fs PYKCNQCGKGFSVHSSLTTHQVIHT PYKCNQCGKGFSAFKPNYPSGHPYWRKTLQM 8.0 2.0 - - 4129_19:53611861-53611862 CA>-_PYKCNQCGKGFSAFKPNYPSGHPYWRKTLQM 0.0 2:25851074-25851074 G>A 1.0 3784 MELANOMA - - - - DTNB uc002rgh.4,p.L110F|NM_183360,p.L110F|ENST00000407038,p.L110F|uc002rgl.4,p.L110F|ENST00000496972,p.L53F|uc002rgq.4,p.L110F|NM_021907,p.L110F|uc002rgk.4,p.L110F|NM_033147,p.L110F|ENST00000404103,p.L110F|uc031rns.1,p.L110F|NM_001256308,p.L53F|ENST00000349996,p.L110F|ENST00000398951,p.L110F|ENST00000406818,p.L110F|ENST00000405222,p.L110F|NM_001256303,p.L110F|ENST00000303659,p.L110F|NM_001256304,p.L110F|uc010yko.3,p.L53F|NM_033148,p.L110F|ENST00000407661,p.L110F|uc002rgi.4,p.L110F|ENST00000407186,p.L110F|uc002rgr.1,p.L99F|NM_183361,p.L110F|ENST00000288642,p.L110F|uc002rgj.4,p.L110F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031rns.1 nonsynonymous SNV exon3 c.C328T p.L110F STHQISVEQSISLLLNFMIAAYDSE STHQISVEQSISFLLNFMIAAYDSE 6.0 7.0 - - 3784_2:25851074-25851074 G>A_STHQISVEQSISFLLNFMIAAYDSE 0.0 3:119530438-119530438 G>T 1.0 4345 COLORECTAL - - - - NR1I2 NM_022002,p.K167N|NM_003889,p.K128N|uc003edl.3,p.K16N|uc003edj.3,p.K128N|uc003edi.3,p.K128N|NM_033013,p.K128N|ENST00000466380,p.K128N|ENST00000337940,p.K167N|ENST00000393716,p.K128N|uc003edk.3,p.K167N retained_intron, protein_coding uc003edl.3 nonsynonymous SNV exon1 c.G48T p.K16N EAVEERRALIKRKKSERTGTQPLGV EAVEERRALIKRNKSERTGTQPLGV 9.0 10.0 - - 4345_3:119530438-119530438 G>T_EAVEERRALIKRNKSERTGTQPLGV 0.0 1:158325101-158325101 A>C 0.0 4235 COLORECTAL - - - - CD1E uc010pie.2,p.I24L|NM_001185114,p.I24L|ENST00000444681,p.I24L|uc009wsv.3,p.I24L protein_coding, processed_transcript uc010pie.2 nonsynonymous SNV exon2 c.A70C p.I24L CCPGENTADPFEIQILAGCRMNAPQ CCPGENTADPFELQILAGCRMNAPQ 2.0 4.0 - - 4235_1:158325101-158325101 A>C_CCPGENTADPFELQILAGCRMNAPQ 0.0 19:45150675-45150675 C>T 0.0 4155 MELANOMA - - - - PVR uc002ozn.3,p.S32L|NM_001135770,p.S87L|uc010ejs.3,p.S87L|NM_006505,p.S87L|NM_001135768,p.S87L|uc010xxb.2,p.S87L|ENST00000425690,p.S87L|ENST00000406449,p.S87L|ENST00000403059,p.S87L|uc010xxc.2,p.S87L|uc002ozm.3,p.S87L|ENST00000344956,p.S87L|NM_001135769,p.S87L protein_coding, nonsense_mediated_decay uc010xxc.2 nonsynonymous SNV exon2 c.C260T p.S87L MAVFHQTQGPSYSESKRLEFVAARL MAVFHQTQGPSYLESKRLEFVAARL 8.0 4.0 - - 4155_19:45150675-45150675 C>T_MAVFHQTQGPSYLESKRLEFVAARL 0.0 6:24302242-24302242 C>G 1.0 4326 BREAST - - - - DCDC2 ENST00000378454,p.V127L|NM_016356,p.V127L|NM_001195610,p.V127L|uc003ndy.3,p.V127L|uc003ndx.3,p.V127L protein_coding uc003ndy.3 nonsynonymous SNV exon4 c.G379C p.V127L TEVKPVIHSRINVSARFRKPLQEPC TEVKPVIHSRINLSARFRKPLQEPC 4.0 6.0 - - 4326_6:24302242-24302242 C>G_TEVKPVIHSRINLSARFRKPLQEPC 0.0 5:137476522-137476522 G>A 0.0 4238 COLORECTAL - - - - BRD8 NM_139199,p.R1163C|ENST00000427976,p.R269C|ENST00000254900,p.R1163C|uc003lcf.1,p.R1163C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003lcf.1 nonsynonymous SNV exon26 c.C3487T p.R1163C TSLKRNLSKGRIRTMAQFLRDLMLM TSLKRNLSKGRICTMAQFLRDLMLM 9.0 2.0 - - 4238_5:137476522-137476522 G>A_TSLKRNLSKGRICTMAQFLRDLMLM 0.0 11:2906560-2906560 T>A 1.0 4316 COLORECTAL - - - - CDKN1C uc001lws.4,p.N54Y|ENST00000414822,p.N54Y|uc001lwu.4,p.N43Y|NM_000076,p.N54Y|ENST00000313407,p.N43Y|uc009ydr.3,p.N43Y|ENST00000430149,p.N54Y|ENST00000440480,p.N43Y|uc001lwr.4,p.N54Y|NM_001122630,p.N43Y|ENST00000380725,p.N43Y|NM_001122631,p.N43Y retained_intron, protein_coding uc009ydr.3 nonsynonymous SNV exon2 c.A127T p.N43Y LSRELQARLAELNAEDQNRWDYDFQ LSRELQARLAELYAEDQNRWDYDFQ 6.0 5.0 - - 4316_11:2906560-2906560 T>A_LSRELQARLAELYAEDQNRWDYDFQ 0.0 20:5897479-5897479 G>A 0.0 4326 BREAST - - - - CHGB uc002wmg.3,p.R35H|ENST00000455042,p.R15H|NM_001819,p.R35H|ENST00000378961,p.R35H protein_coding, processed_transcript uc002wmg.3 nonsynonymous SNV exon3 c.G104A p.R35H VDNRNHNEGMVTRCIIEVLSNALSK VDNRNHNEGMVTHCIIEVLSNALSK 2.0 5.0 - - 4326_20:5897479-5897479 G>A_VDNRNHNEGMVTHCIIEVLSNALSK 0.0 9:78953177-78953177 G>C 0.0 4134 NSCLC - - - - PCSK5 ENST00000545128,p.E1567Q|NM_001190482,p.E1567Q|uc004akc.2,p.E1567Q|ENST00000424854,p.E1267Q protein_coding uc004akc.2 nonsynonymous SNV exon34 c.G4699C p.E1567Q EGYYADNSTGRCERCNRSCKGCQGP EGYYADNSTGRCQRCNRSCKGCQGP 3.0 10.0 - - 4134_9:78953177-78953177 G>C_EGYYADNSTGRCQRCNRSCKGCQGP 0.0 1:8424129-8424129 ->G 1.0 4326 BREAST - - - - RERE ENST00000377464,p.R308fs|NM_012102,p.R576fs|NM_001042682,p.R22fs|uc001apd.3,p.R22fs|NM_001042681,p.R576fs|uc001apf.3,p.R576fs|ENST00000476556,p.R22fs|uc001ape.3,p.R576fs|ENST00000337907,p.R576fs|ENST00000400908,p.R576fs|uc010nzx.1,p.R308fs retained_intron, protein_coding, processed_transcript, non_stop_decay uc010nzx.1 frameshift insertion exon9 c.922dupC p.R308fs DGLSGKHSMRTRRSRGSMSTLRSGR DGLSGKHSMRTRPESGLDVDTTQWSEEAASQP 10.0 5.0 - - 4326_1:8424129-8424129 ->G_DGLSGKHSMRTRPESGLDVDTTQWSEEAASQP 0.0 1:86891129-86891129 ->AGCAAAAT 0.0 4329 COLORECTAL - - - - CLCA2 NM_006536,p.N98fs|ENST00000370565,p.N98fs|uc001dlr.4,p.N98fs protein_coding, processed_transcript uc001dlr.4 frameshift insertion exon2 c.294_295insAGCAAAAT p.N98fs KILIPATWKANNNSKIKQESYEKAN KILIPATWKANNNSKIAK 1.0 8.0 - - 4329_1:86891129-86891129 ->AGCAAAAT_KILIPATWKANNNSKIAK 0.0 11:62652946-62652946 G>A 1.0 4134 NSCLC - - - - SLC3A2 ENST00000377890,p.A438T|ENST00000338663,p.A337T|uc001nwf.3,p.A376T|NM_002394,p.A438T|NM_001012664,p.A376T|ENST00000377892,p.A469T|uc001nwd.3,p.A438T|NM_001013251,p.A337T|uc001nwg.3,p.A337T|ENST00000377889,p.A376T|ENST00000377891,p.A439T|ENST00000535296,p.A407T|NM_001012662,p.A439T|uc001nwc.3,p.A439T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001nwg.3 nonsynonymous SNV exon7 c.G1009A p.A337T TGNRWCSWSLSQARLLTSFLPAQLL TGNRWCSWSLSQTRLLTSFLPAQLL 10.0 3.0 - - 4134_11:62652946-62652946 G>A_TGNRWCSWSLSQTRLLTSFLPAQLL 0.0 X:73961321-73961321 T>A 0.0 4284 COLORECTAL - - - - KIAA2022 ENST00000055682,p.D1024V|NM_001008537,p.D1024V|ENST00000373468,p.D1024V|uc004eby.3,p.D1024V protein_coding uc004eby.3 nonsynonymous SNV exon3 c.A3071T p.D1024V KSCEKDGDDDITDDFLAHCSPKLVI KSCEKDGDDDITVDFLAHCSPKLVI 2.0 6.0 - - 4284_X:73961321-73961321 T>A_KSCEKDGDDDITVDFLAHCSPKLVI 0.0 6:158576373-158576373 T>C 0.0 3998 MELANOMA - - - - SERAC1 uc003qrc.2,p.I34M|ENST00000367101,p.I34M|ENST00000367102,p.I34M|ENST00000607000,p.I34M|NM_032861,p.I34M|ENST00000367104,p.I34M|uc031sqr.1,p.I34M|ENST00000606965,p.I34M protein_coding uc031sqr.1 nonsynonymous SNV exon2 c.A102G p.I34M KSGTHWRDIRNIIKFTGSLILGGSL KSGTHWRDIRNIMKFTGSLILGGSL 5.0 10.0 - - 3998_6:158576373-158576373 T>C_KSGTHWRDIRNIMKFTGSLILGGSL 0.0 2:201507438-201507438 C>T 1.0 3466 MELANOMA - - - - AOX1 uc010fsu.3,p.R287C|uc010zhf.2,p.R477C|ENST00000374700,p.R921C|NM_001159,p.R921C|uc002uvx.3,p.R921C retained_intron, protein_coding, processed_transcript uc010zhf.2 nonsynonymous SNV exon13 c.C1429T p.R477C ACRTNLPSNTAFRGFGFPQAALITE ACRTNLPSNTAFCGFGFPQAALITE 3.0 2.0 - - 3466_2:201507438-201507438 C>T_ACRTNLPSNTAFCGFGFPQAALITE 0.0 16:55731824-55731824 G>T 0.0 4266 COLORECTAL - - - - SLC6A2 ENST00000568943,p.A426S|ENST00000567238,p.A321S|uc021tio.1,p.A426S|ENST00000414754,p.A426S|ENST00000561820,p.A426S|NM_001172504,p.A426S|uc002eii.3,p.A321S|NM_001043,p.A426S|uc002eig.3,p.A426S|uc002eij.3,p.A140S|NM_001172502,p.A321S|uc002eif.3,p.A426S|ENST00000379906,p.A426S|ENST00000219833,p.A426S|NM_001172501,p.A426S|ENST00000566163,p.A381S protein_coding uc021tio.1 nonsynonymous SNV exon9 c.G1276T p.A426S ALGLDSSMGGMEAVITGLADDFQVL ALGLDSSMGGMESVITGLADDFQVL 1.0 9.0 - - 4266_16:55731824-55731824 G>T_ALGLDSSMGGMESVITGLADDFQVL 0.0 2:197755596-197755596 G>T 1.0 2556 MELANOMA - - - - PGAP1 uc002utx.3,p.H203N|uc002utw.3,p.H377N|ENST00000409475,p.H377N|ENST00000354764,p.H377N|NM_024989,p.H377N|ENST00000374738,p.H157N|uc002uty.1,p.H377N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002uty.1 nonsynonymous SNV exon10 c.C1129A p.H377N SEKIYFTFPLENHRKIYTHVYCQST SEKIYFTFPLENNRKIYTHVYCQST 8.0 5.0 - - 2556_2:197755596-197755596 G>T_SEKIYFTFPLENNRKIYTHVYCQST 0.0 1:94652145-94652145 G>A 1.0 3713 MELANOMA - - - - ARHGAP29 ENST00000552844,p.H564Y|NM_004815,p.H564Y|uc001dqj.4,p.H564Y|uc001dqk.3,p.H130Y|ENST00000260526,p.H564Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001dqk.3 nonsynonymous SNV exon4 c.C388T p.H130Y SLDSESISPGDFHRKLPRTPSSGTM SLDSESISPGDFYRKLPRTPSSGTM 3.0 2.0 - - 3713_1:94652145-94652145 G>A_SLDSESISPGDFYRKLPRTPSSGTM 0.0 10:135183484-135183484 G>A 1.0 3713 MELANOMA - - - - ECHS1 uc001lmu.3,p.S113F|NM_004092,p.S113F|ENST00000368547,p.S113F protein_coding uc001lmu.3 nonsynonymous SNV exon3 c.C338T p.S113F KEMQNLSFQDCYSSKFLKHWDHLTQ KEMQNLSFQDCYFSKFLKHWDHLTQ 6.0 2.0 - - 3713_10:135183484-135183484 G>A_KEMQNLSFQDCYFSKFLKHWDHLTQ 0.0 11:33667518-33667518 G>A 0.0 4245 COLORECTAL - - - - KIAA1549L ENST00000321505,p.R1602K|NM_012194,p.R1602K|uc021qfs.1,p.R1602K|ENST00000389726,p.R1608K protein_coding uc021qfs.1 nonsynonymous SNV exon16 c.G4805A p.R1602K VVTSAPGTMTRPRAGVQWVPTYRPE VVTSAPGTMTRPKAGVQWVPTYRPE 2.0 4.0 - - 4245_11:33667518-33667518 G>A_VVTSAPGTMTRPKAGVQWVPTYRPE 0.0 10:60272923-60272923 C>G 1.0 4234 NSCLC - - - - BICC1 ENST00000373886,p.P7R|uc001jki.1,p.P7R|NM_001080512,p.P7R protein_coding, processed_transcript uc001jki.1 nonsynonymous SNV exon1 c.C20G p.P7R MAAQGEPGYLAAQSDPGSN MAAQGERGYLAAQSDPGSN 8.0 10.0 - - 4234_10:60272923-60272923 C>G_MAAQGERGYLAAQSDPGSN 0.0 3:31710272-31710272 C>A 0.0 4317 COLORECTAL - - - - OSBPL10 NM_001174060,p.C589F|uc011axf.2,p.C589F|uc021wuu.1,p.C653F|NM_017784,p.C653F|uc003ceu.1,p.C410F|ENST00000438237,p.C589F|ENST00000396556,p.C653F retained_intron, protein_coding, processed_transcript uc021wuu.1 nonsynonymous SNV exon10 c.G1958T p.C653F AEVKHNPTNTIVCKAHGEWNGTLEF AEVKHNPTNTIVFKAHGEWNGTLEF 9.0 3.0 - - 4317_3:31710272-31710272 C>A_AEVKHNPTNTIVFKAHGEWNGTLEF 0.0 4:6578398-6578398 G>A 0.0 2591 MELANOMA - - - - MAN2B2 NM_015274,p.E78K|ENST00000504248,p.E78K|uc011bwf.1,p.E78K|ENST00000285599,p.E78K|NM_001292038,p.E78K|uc003gjf.1,p.E78K|uc003gje.1,p.E78K protein_coding, processed_transcript uc011bwf.1 nonsynonymous SNV exon2 c.G232A p.E78K RGQQRRFIAVEQEFFRLWWDGVASD RGQQRRFIAVEQKFFRLWWDGVASD 6.0 10.0 - - 2591_4:6578398-6578398 G>A_RGQQRRFIAVEQKFFRLWWDGVASD 0.0 8:94746627-94746627 G>A 1.0 4252 COLORECTAL - - - - RBM12B uc022aye.1,p.P671L|uc003yfz.3,p.P671L|ENST00000399300,p.P671L|NM_203390,p.P671L protein_coding, processed_transcript uc022aye.1 nonsynonymous SNV exon1 c.C2012T p.P671L LRWLPEEDFRRPPEEDWRRPPEEDF LRWLPEEDFRRPLEEDWRRPPEEDF 6.0 7.0 - - 4252_8:94746627-94746627 G>A_LRWLPEEDFRRPLEEDWRRPPEEDF 0.0 3:120413022-120413022 T>G 1.0 2369 MELANOMA - - - - RABL3 ENST00000273375,p.K195T|uc003edx.3,p.K195T|NM_173825,p.K195T protein_coding, processed_transcript, nonsense_mediated_decay uc003edx.3 nonsynonymous SNV exon6 c.A584C p.K195T PRYLAAGSSNAVKLSRFFDKVIEKR PRYLAAGSSNAVTLSRFFDKVIEKR 7.0 5.0 - - 2369_3:120413022-120413022 T>G_PRYLAAGSSNAVTLSRFFDKVIEKR 0.0 1:16583114-16583117 GTGA>- 1.0 4320 COLORECTAL - - - - FBXO42 NM_018994,p.S214fs|ENST00000375592,p.S214fs|uc001ayf.3,p.S121fs|uc001ayg.3,p.S214fs protein_coding, processed_transcript uc001ayg.3 frameshift deletion exon5 c.640_643del p.S214fs QPERFFDEIHTYSPSKNWWNCIVTT QPERFFDEIHTYPLKIGGTAL 6.0 9.0 - - 4320_1:16583114-16583117 GTGA>-_QPERFFDEIHTYPLKIGGTAL 0.0 22:37271761-37271761 G>A 0.0 2591 MELANOMA - - - - NCF4 uc003apz.4,p.E232K|ENST00000248899,p.E232K|NM_013416,p.E232K|ENST00000447071,p.E129K|uc003apy.4,p.E232K|NM_000631,p.E232K|ENST00000397147,p.E232K protein_coding uc003apz.4 nonsynonymous SNV exon8 c.G694A p.E232K PLSFVKILKDFPEEDDPTNWLRCYY PLSFVKILKDFPKEDDPTNWLRCYY 1.0 8.0 - - 2591_22:37271761-37271761 G>A_PLSFVKILKDFPKEDDPTNWLRCYY 0.0 7:6426892-6426892 C>T 1.0 3879 MELANOMA - - ID=COSM1167878,COSM125734;OCCURENCE=3(NS),1(upper_aerodigestive_tract),1(breast),38(skin),1(endometrium) 1 RAC1 ENST00000356142,p.P29S|NM_018890,p.P29S|uc003spx.3,p.P29S|uc003spw.3,p.P29S|ENST00000348035,p.P29S|NM_006908,p.P29S retained_intron, protein_coding, processed_transcript uc003spx.3 nonsynonymous SNV exon2 c.C85T p.P29S TCLLISYTTNAFPGEYIPTVFDNYS TCLLISYTTNAFSGEYIPTVFDNYS 10.0 2.0 - - 3879_7:6426892-6426892 C>T_TCLLISYTTNAFSGEYIPTVFDNYS 0.0 5:56179454-56179454 C>T 1.0 4245 COLORECTAL - - - 1 MAP3K1 ENST00000399503,p.S1256F|uc003jqw.4,p.S1256F|NM_005921,p.S1256F retained_intron, protein_coding uc003jqw.4 nonsynonymous SNV exon15 c.C3767T p.S1256F LKGQQIGLGAFSSCYQAQDVGTGTL LKGQQIGLGAFSFCYQAQDVGTGTL 6.0 9.0 - - 4245_5:56179454-56179454 C>T_LKGQQIGLGAFSFCYQAQDVGTGTL 0.0 21:47552146-47552146 T>G 0.0 4335 COLORECTAL - - - - COL6A2 uc002zia.1,p.F914V|NM_001849,p.F914V|ENST00000300527,p.F914V retained_intron, protein_coding, processed_transcript uc002zia.1 nonsynonymous SNV exon28 c.T2740G p.F914V HEALETTQYLNSFSHVGAGVVHAIN HEALETTQYLNSVSHVGAGVVHAIN 10.0 1.0 - - 4335_21:47552146-47552146 T>G_HEALETTQYLNSVSHVGAGVVHAIN 0.0 20:42635265-42635265 C>G 0.0 4345 COLORECTAL - - - - TOX2 uc010ggo.3,p.L82V|ENST00000341197,p.L82V|ENST00000423191,p.L40V|ENST00000442881,p.L40V|ENST00000358131,p.L91V|NM_032883,p.L40V|NM_001098798,p.L91V|NM_001098797,p.L82V|uc021wdz.2,p.L82V|NM_001098796,p.L40V|uc002xlf.4,p.L91V|uc002xle.4,p.L40V|uc010ggp.3,p.L40V|ENST00000372999,p.L40V protein_coding uc021wdz.2 nonsynonymous SNV exon3 c.C244G p.L82V PPITPPNLPEPSLLHLGDHEASYHS PPITPPNLPEPSVLHLGDHEASYHS 5.0 3.0 - - 4345_20:42635265-42635265 C>G_PPITPPNLPEPSVLHLGDHEASYHS 0.0 2:214182043-214182043 T>G 1.0 4196 COLORECTAL - - - - SPAG16 uc002ver.4,p.L113V|uc002veq.4,p.L167V|NM_024532,p.L167V|uc002ves.1,p.L136V|ENST00000374309,p.L73V|ENST00000331683,p.L167V|ENST00000447990,p.L167V|ENST00000272898,p.L167V|uc010zjk.3,p.L73V|ENST00000413312,p.L136V protein_coding, processed_transcript, nonsense_mediated_decay uc010zjk.3 nonsynonymous SNV exon4 c.T217G p.L73V TQIMLLENENKNLKKDLKHYKQAAD TQIMLLENENKNVKKDLKHYKQAAD 7.0 3.0 - - 4196_2:214182043-214182043 T>G_TQIMLLENENKNVKKDLKHYKQAAD 0.0 12:91502710-91502710 G>T 0.0 4252 COLORECTAL - - - - LUM NM_002345,p.T16N|ENST00000266718,p.T16N|uc001tbm.3,p.T16N protein_coding, processed_transcript uc001tbm.3 nonsynonymous SNV exon2 c.C47A p.T16N SAFTLFLALIGGTSGQYYDYDFPLS SAFTLFLALIGGNSGQYYDYDFPLS 10.0 9.0 - - 4252_12:91502710-91502710 G>T_SAFTLFLALIGGNSGQYYDYDFPLS 0.0 Y:22923182-22923182 T>C 0.0 4275 COLORECTAL - - - - RPS4Y2 ENST00000288666,p.I92T|uc011nbb.2,p.I92T|NM_001039567,p.I92T protein_coding uc011nbb.2 nonsynonymous SNV exon4 c.T275C p.I92T ITYPAGFIDVISIEKTGEHFRLVYN ITYPAGFIDVISTEKTGEHFRLVYN 2.0 10.0 - - 4275_Y:22923182-22923182 T>C_ITYPAGFIDVISTEKTGEHFRLVYN 0.0 7:91632448-91632448 G>A 0.0 4335 COLORECTAL - - - 2 AKAP9 uc003ulg.3,p.D1073N|NM_147185,p.D1073N|ENST00000358100,p.D1085N|uc003ulf.3,p.D1073N|NM_005751,p.D1073N|uc003uli.3,p.D698N|uc003ule.2,p.D1085N|ENST00000356239,p.D1073N|ENST00000359028,p.D1085N retained_intron, protein_coding, processed_transcript uc003uli.3 nonsynonymous SNV exon1 c.G2092A p.D698N VGEESKQEQLILDHLPSVTKESSLR VGEESKQEQLILNHLPSVTKESSLR 9.0 9.0 - - 4335_7:91632448-91632448 G>A_VGEESKQEQLILNHLPSVTKESSLR 0.0 11:69488012-69488012 G>A 1.0 4287 COLORECTAL - - - - ORAOV1 uc001ope.1,p.T43M|ENST00000279147,p.T43M|ENST00000535657,p.T43M|ENST00000538554,p.T43M|NM_153451,p.T43M|ENST00000542341,p.T43M|ENST00000539414,p.T43M|uc001opc.3,p.T43M|uc010rqi.1,p.T43M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010rqi.1 nonsynonymous SNV exon2 c.C128T p.T43M SSLGVMEGRQHGTLHGAKIGSEIGC SSLGVMEGRQHGMLHGAKIGSEIGC 6.0 9.0 - - 4287_11:69488012-69488012 G>A_SSLGVMEGRQHGMLHGAKIGSEIGC 0.0 1:197160876-197160876 G>A 1.0 3998 MELANOMA - - - - ZBTB41 uc001gtx.1,p.P425L|ENST00000367405,p.P425L|NM_194314,p.P425L protein_coding, processed_transcript uc001gtx.1 nonsynonymous SNV exon2 c.C1274T p.P425L NETEFHKKEHKCPYCNKLHASKKTL NETEFHKKEHKCLYCNKLHASKKTL 8.0 4.0 - - 3998_1:197160876-197160876 G>A_NETEFHKKEHKCLYCNKLHASKKTL 0.0 1:236897795-236897795 C>T 0.0 3795 MELANOMA - - - - ACTN2 ENST00000542672,p.H254Y|uc009xgi.1,p.H254Y|uc010pxu.1,p.H39Y|NM_001278343,p.H254Y protein_coding, processed_transcript uc010pxu.1 nonsynonymous SNV exon2 c.C115T p.H39Y ERAIMTYVSCYYHAFAGAQKAETAA ERAIMTYVSCYYYAFAGAQKAETAA 6.0 7.0 - - 3795_1:236897795-236897795 C>T_ERAIMTYVSCYYYAFAGAQKAETAA 0.0 20:62325827-62325827 G>A 1.0 4155 MELANOMA - - - - RTEL1 ENST00000482936,p.R1032K|uc011abe.1,p.R809K|NM_032957,p.R1056K|ENST00000370003,p.R277K|NM_001283009,p.R1032K|ENST00000360203,p.R1032K|uc002yfu.2,p.R1032K|NM_001283010,p.R809K|uc011abd.2,p.R1056K|ENST00000318100,p.R1032K|ENST00000508582,p.R1056K|ENST00000370018,p.R1032K|uc002yfx.1,p.R277K|NM_016434,p.R1032K processed_transcript,protein_coding, nonsense_mediated_decay uc011abe.1 nonsynonymous SNV exon30 c.G2426A p.R809K EHLNQGRPHLSPRPPPTGDPGSQPQ EHLNQGRPHLSPKPPPTGDPGSQPQ 7.0 3.0 - - 4155_20:62325827-62325827 G>A_EHLNQGRPHLSPKPPPTGDPGSQPQ 0.0 19:53554077-53554077 A>G 0.0 4246 COLORECTAL - - - - ERVV-2 uc031rmt.1,p.R525G|NM_001191055,p.R525G|ENST00000601417,p.R525G|uc021uzd.1,p.R525G protein_coding uc031rmt.1 nonsynonymous SNV exon1 c.A1573G p.R525G YKHISPLDASGQRFRETMEEFSL YKHISPLDASGQGFRETMEEFSL 1.0 3.0 - - 4246_19:53554077-53554077 A>G_YKHISPLDASGQGFRETMEEFSL 0.0 7:100417235-100417235 G>A 1.0 4000 MELANOMA - - - - EPHB4 uc003uwm.1,p.S321F|ENST00000360620,p.S414F|NM_004444,p.S414F|uc010lhj.1,p.S414F|uc011kkf.1,p.S414F|uc003uwn.1,p.S414F|ENST00000358173,p.S414F retained_intron, protein_coding, processed_transcript uc011kkf.1 nonsynonymous SNV exon6 c.C1241T p.S414F YTFEVTALNGVSSLATGPVPFEPVN YTFEVTALNGVSFLATGPVPFEPVN 8.0 6.0 - - 4000_7:100417235-100417235 G>A_YTFEVTALNGVSFLATGPVPFEPVN 0.0 20:377195-377195 C>T 1.0 3713 MELANOMA - - - - TRIB3 NM_001301193,p.P313L|NM_021158,p.P313L|uc002wdn.3,p.P340L|NM_001301201,p.P340L|NM_001301188,p.P313L|ENST00000422053,p.P340L|uc002wdm.3,p.P313L|NM_001301190,p.P313L|ENST00000217233,p.P313L|NM_001301196,p.P313L protein_coding, processed_transcript uc002wdn.3 nonsynonymous SNV exon5 c.C1019T p.P340L AERLTATGILLHPWLRQDPMPLAPT AERLTATGILLHLWLRQDPMPLAPT 6.0 5.0 - - 3713_20:377195-377195 C>T_AERLTATGILLHLWLRQDPMPLAPT 0.0 8:27312126-27312126 G>A 0.0 2556 MELANOMA - - ID=COSM131805;OCCURENCE=1(skin) - PTK2B uc022ate.1,p.E938K|NM_004103,p.E938K|ENST00000338238,p.E896K|ENST00000544172,p.E938K|ENST00000517339,p.E896K|ENST00000346049,p.E938K|uc003xfn.2,p.E938K|NM_173175,p.E896K|ENST00000420218,p.E896K|ENST00000397501,p.E938K|NM_173174,p.E938K|uc003xfq.2,p.E896K|NM_173176,p.E938K|uc003xfp.2,p.E938K retained_intron, protein_coding, processed_transcript uc022ate.1 nonsynonymous SNV exon31 c.G2812A p.E938K DLLPSLPSSSRTEIEGTQKLLNKDL DLLPSLPSSSRTKIEGTQKLLNKDL 5.0 2.0 - - 2556_8:27312126-27312126 G>A_DLLPSLPSSSRTKIEGTQKLLNKDL 0.0 18:6138202-6138202 C>T 1.0 2556 MELANOMA - - - - L3MBTL4 uc010dkt.3,p.G397E|ENST00000535782,p.G210E|ENST00000317931,p.G397E|ENST00000400104,p.G397E|uc002kmz.4,p.G397E|NM_173464,p.G397E|ENST00000400105,p.G397E|uc002kmy.4,p.G397E|ENST00000284898,p.G397E protein_coding, processed_transcript uc010dkt.3 nonsynonymous SNV exon14 c.G1190A p.G397E RGIGHIRGPRYSGHHSAFGCPYSDM RGIGHIRGPRYSEHHSAFGCPYSDM 5.0 1.0 - - 2556_18:6138202-6138202 C>T_RGIGHIRGPRYSEHHSAFGCPYSDM 0.0 1:158639560-158639560 G>T 0.0 4258 ENDOMETRIAL - - - - SPTA1 uc001fst.1,p.A539E|ENST00000368147,p.A539E|NM_003126,p.A539E|ENST00000368148,p.A539E protein_coding, processed_transcript uc001fst.1 nonsynonymous SNV exon13 c.C1616A p.A539E AQEEKIITVDKTATKLIGDDHYDSE AQEEKIITVDKTETKLIGDDHYDSE 2.0 8.0 - - 4258_1:158639560-158639560 G>T_AQEEKIITVDKTETKLIGDDHYDSE 0.0 17:39324124-39324124 G>A 0.0 4196 COLORECTAL - - - - KRTAP4-3 NM_033187,p.R101C|ENST00000391356,p.R101C|uc010cxl.3,p.R101C protein_coding uc010cxl.3 nonsynonymous SNV exon1 c.C301T p.R101C CCKPSCCRTTCCRPSCCISSCCRPS CCKPSCCRTTCCCPSCCISSCCRPS 2.0 5.0 - - 4196_17:39324124-39324124 G>A_CCKPSCCRTTCCCPSCCISSCCRPS 0.0 6:30609962-30609962 G>A 1.0 4189 MELANOMA - - - - ATAT1 NM_024909,p.R221K|uc003rdc.3,p.R221K|uc003nqr.4,p.R221K|NM_001031722,p.R209K|ENST00000329992,p.R221K|ENST00000330083,p.R209K|ENST00000376483,p.R221K|ENST00000376485,p.R221K|uc003nqv.3,p.R209K retained_intron, protein_coding, processed_transcript uc003rdc.3 nonsynonymous SNV exon9 c.G662A p.R221K AAAVDPTPAAPARKLPPKRAEGDIK AAAVDPTPAAPAKKLPPKRAEGDIK 7.0 4.0 - - 4189_6:30609962-30609962 G>A_AAAVDPTPAAPAKKLPPKRAEGDIK 0.0 7:92761164-92761164 T>G 1.0 3713 MELANOMA - - - - SAMD9L ENST00000437805,p.K1374T|uc022ahh.1,p.K1374T|NM_152703,p.K1374T|ENST00000318238,p.K1374T|uc010lfd.1,p.K1374T|uc003umi.1,p.K1374T|uc003umj.1,p.K1374T|ENST00000411955,p.K1374T|uc010lfb.1,p.K1374T|uc010lfc.1,p.K1374T|uc003umh.1,p.K1374T|uc003umk.1,p.K1374T protein_coding, processed_transcript uc022ahh.1 nonsynonymous SNV exon1 c.A4121C p.K1374T NEYAFLLQQNSKKPMTNEKQNSILA NEYAFLLQQNSKTPMTNEKQNSILA 9.0 9.0 - - 3713_7:92761164-92761164 T>G_NEYAFLLQQNSKTPMTNEKQNSILA 0.0 11:64025995-64025995 C>A 1.0 4046 OVARIAN - - - - PLCB3 ENST00000540288,p.L355I|ENST00000279230,p.L355I|uc009ypg.2,p.L355I|uc009yph.2,p.L288I|NM_001184883,p.L288I|uc009ypi.3,p.L355I|NM_000932,p.L355I|ENST00000325234,p.L288I retained_intron, protein_coding uc009ypi.3 nonsynonymous SNV exon11 c.C1063A p.L355I GTSSVEMYRQALLWGCRCVELDVWK GTSSVEMYRQALIWGCRCVELDVWK 8.0 6.0 - - 4046_11:64025995-64025995 C>A_GTSSVEMYRQALIWGCRCVELDVWK 0.0 17:37234201-37234201 G>A 0.0 3775 CERVICAL - - - - PLXDC1 ENST00000315392,p.S384F|NM_020405,p.S384F|uc002hrg.2,p.S384F|ENST00000444911,p.S344F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002hrg.2 nonsynonymous SNV exon11 c.C1151T p.S384F SFSPYDGDLTTTSSSLFIDSLTTED SFSPYDGDLTTTFSSLFIDSLTTED 8.0 8.0 - - 3775_17:37234201-37234201 G>A_SFSPYDGDLTTTFSSLFIDSLTTED 0.0 10:83637750-83637750 G>A 0.0 4284 COLORECTAL - - ID=COSM1474824;OCCURENCE=1(breast) - NRG3 ENST00000602794,p.V12I protein_coding, nonsense_mediated_decay ENST00000602794 nonsynonymous SNV exon1 c.G34A p.V12I MECGIPPTLVCVGRGGGLHTVFQR MECGIPPTLVCIGRGGGLHTVFQR 3.0 1.0 - - 4284_10:83637750-83637750 G>A_MECGIPPTLVCIGRGGGLHTVFQR 0.0 16:48149423-48149423 G>A 0.0 3903 MELANOMA - - - - ABCC12 uc002efc.1,p.S631L|ENST00000529504,p.S631L|NM_033226,p.S631L|ENST00000311303,p.S631L|ENST00000532494,p.S631L|ENST00000534418,p.S573L|ENST00000497206,p.S631L|ENST00000448542,p.S631L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002efc.1 nonsynonymous SNV exon13 c.C1892T p.S631L SDRQLYLLDDPLSAVDAHVGKHVFE SDRQLYLLDDPLLAVDAHVGKHVFE 1.0 6.0 - - 3903_16:48149423-48149423 G>A_SDRQLYLLDDPLLAVDAHVGKHVFE 0.0 7:98591251-98591251 G>A 1.0 4244 COLORECTAL - - ID=COSM1093709,COSM20429;OCCURENCE=1(endometrium),1(large_intestine) 1 TRRAP uc011kis.2,p.R3270H|uc003upp.3,p.R3299H|uc003upr.3,p.R3005H|NM_003496,p.R3270H|ENST00000355540,p.R3270H|NM_001244580,p.R3299H|ENST00000359863,p.R3299H|ENST00000446306,p.R3288H retained_intron, protein_coding uc011kis.2 nonsynonymous SNV exon64 c.G9809A p.R3270H DPGPIRATAPMWRCSRIMHMQRELH DPGPIRATAPMWHCSRIMHMQRELH 6.0 10.0 - - 4244_7:98591251-98591251 G>A_DPGPIRATAPMWHCSRIMHMQRELH 0.0 12:110029130-110029130 G>A 1.0 4252 COLORECTAL - - - - MVK uc009zvk.3,p.A285T|ENST00000541384,p.A91T|uc010sxr.2,p.A233T|ENST00000539575,p.A233T|ENST00000228510,p.A285T|ENST00000392727,p.A233T|uc001toy.4,p.A285T|NM_001114185,p.A285T|NM_000431,p.A285T|uc001toz.4,p.A91T|NM_001301182,p.A233T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010sxr.2 nonsynonymous SNV exon8 c.G697A p.A233T LECERVLGEMGEAPAPEQYLVLEEL LECERVLGEMGETPAPEQYLVLEEL 9.0 10.0 - - 4252_12:110029130-110029130 G>A_LECERVLGEMGETPAPEQYLVLEEL 0.0 12:31600513-31600513 C>T 1.0 4316 COLORECTAL - - ID=COSM185361;OCCURENCE=1(large_intestine) - DENND5B ENST00000354285,p.R629Q|ENST00000306833,p.R642Q|NM_144973,p.R607Q|uc001rkh.1,p.R642Q|uc001rkj.3,p.R629Q|ENST00000389082,p.R607Q|ENST00000536562,p.R642Q|uc001rki.1,p.R607Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001rkj.3 nonsynonymous SNV exon7 c.G1886A p.R629Q KIRLYNVRAPTLRTSIYQKCSTLKE KIRLYNVRAPTLQTSIYQKCSTLKE 5.0 9.0 - - 4316_12:31600513-31600513 C>T_KIRLYNVRAPTLQTSIYQKCSTLKE 0.0 1:155491162-155491162 C>T 1.0 4320 COLORECTAL - - - - ASH1L uc009wqq.3,p.R50H|ENST00000392403,p.R50H|ENST00000548830,p.R50H|NM_018489,p.R50H|ENST00000368346,p.R50H|uc009wqr.1,p.R50H|uc001fkt.3,p.R50H retained_intron, protein_coding, nonsense_mediated_decay uc009wqr.1 nonsynonymous SNV exon3 c.G149A p.R50H ELEKNTKEEEDLRKRNRERNIEAGK ELEKNTKEEEDLHKRNRERNIEAGK 8.0 9.0 - - 4320_1:155491162-155491162 C>T_ELEKNTKEEEDLHKRNRERNIEAGK 0.0 9:136280096-136280096 C>G 0.0 4298 COLORECTAL - - - - REXO4 uc004cdm.3,p.K87N|ENST00000371942,p.K87N|ENST00000453165,p.K72N|NM_020385,p.K87N protein_coding, processed_transcript uc004cdm.3 nonsynonymous SNV exon2 c.G261C p.K87N EWLLKQKSQAPEKPLVISQMGSKKK EWLLKQKSQAPENPLVISQMGSKKK 8.0 2.0 - - 4298_9:136280096-136280096 C>G_EWLLKQKSQAPENPLVISQMGSKKK 0.0 12:109614037-109614037 G>C 1.0 4335 COLORECTAL - - - - ACACB ENST00000377848,p.S469T|uc001toc.3,p.S469T|ENST00000377854,p.S469T|ENST00000338432,p.S469T|uc001tob.3,p.S469T|NM_001093,p.S469T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001toc.3 nonsynonymous SNV exon8 c.G1406C p.S469T EGGGGKGIRKAESAEDFPILFRQVQ EGGGGKGIRKAETAEDFPILFRQVQ 10.0 9.0 - - 4335_12:109614037-109614037 G>C_EGGGGKGIRKAETAEDFPILFRQVQ 0.0 1:177906522-177906522 G>A 1.0 2556 MELANOMA - - - - SEC16B uc001glk.1,p.P454L|NM_033127,p.P777L|ENST00000308284,p.P777L|uc001gli.1,p.P777L|uc001glh.1,p.P436L|uc001glj.1,p.P778L|uc009wwz.1,p.P436L|uc009wwy.1,p.P332L retained_intron, protein_coding, processed_transcript uc009wwz.1 nonsynonymous SNV exon18 c.C1307T p.P436L TCLLQPSPQQPFPLQPGSYPAGGGA TCLLQPSPQQPFLLQPGSYPAGGGA 4.0 8.0 - - 2556_1:177906522-177906522 G>A_TCLLQPSPQQPFLLQPGSYPAGGGA 0.0 20:3251129-3251129 G>C 1.0 4069 PANCREATIC - - - - C20orf194 uc002wii.3,p.I910M|uc002wik.2,p.I584M|NM_001009984,p.I910M|ENST00000252032,p.I910M|uc002wij.3,p.I649M protein_coding, processed_transcript uc002wik.2 nonsynonymous SNV exon25 c.C1752G p.I584M QRHPLLVQLQSLIRAANPAAAFILA QRHPLLVQLQSLMRAANPAAAFILA 7.0 8.0 - - 4069_20:3251129-3251129 G>C_QRHPLLVQLQSLMRAANPAAAFILA 0.0 19:21606900-21606900 G>T 0.0 4326 BREAST - - - - ZNF493 uc021urq.1,p.R352M|uc002npx.3,p.R352M|uc002npw.3,p.R480M|uc002npy.3,p.R352M|NM_175910,p.R352M|ENST00000355504,p.R352M|NM_001076678,p.R480M|ENST00000392288,p.R480M retained_intron, protein_coding, nonsense_mediated_decay uc021urq.1 nonsynonymous SNV exon1 c.G1055T p.R352M KAFKRSSTLTKHRIIHTEEKPYKCE KAFKRSSTLTKHMIIHTEEKPYKCE 10.0 6.0 - - 4326_19:21606900-21606900 G>T_KAFKRSSTLTKHMIIHTEEKPYKCE 0.0 14:104407890-104407890 A>T 0.0 4266 COLORECTAL - - - - RD3L uc031qqp.1,p.I48N|NM_001257268,p.I48N|ENST00000557640,p.I48N|ENST00000455348,p.I48N protein_coding uc031qqp.1 nonsynonymous SNV exon2 c.T143A p.I48N WHLKERERLIQEIENEQKVKKTGVD WHLKERERLIQENENEQKVKKTGVD 3.0 5.0 - - 4266_14:104407890-104407890 A>T_WHLKERERLIQENENEQKVKKTGVD 0.0 X:102192922-102192922 T>A 1.0 4317 COLORECTAL - - - - RAB40AL ENST00000218249,p.S226T|NM_001031834,p.S226T|uc004ejs.3,p.S226T protein_coding uc004ejs.3 nonsynonymous SNV exon1 c.T676A p.S226T LPIALRSHLKSFSMAKGLNARMMRG LPIALRSHLKSFTMAKGLNARMMRG 6.0 4.0 - - 4317_X:102192922-102192922 T>A_LPIALRSHLKSFTMAKGLNARMMRG 0.0 3:122942526-122942526 G>A 0.0 4081 COLORECTAL - - - - SEC22A NM_012430,p.M101I|ENST00000473494,p.M101I|uc003egf.3,p.M101I|ENST00000487572,p.M101I|uc003ege.3,p.M101I|ENST00000480631,p.M101I|ENST00000492595,p.M101I|ENST00000309934,p.M101I protein_coding, processed_transcript, nonsense_mediated_decay uc003egf.3 nonsynonymous SNV exon2 c.G303A p.M101I ELQKEFITTYNMMKTNTAVRPYCFI ELQKEFITTYNMIKTNTAVRPYCFI 4.0 7.0 - - 4081_3:122942526-122942526 G>A_ELQKEFITTYNMIKTNTAVRPYCFI 0.0 15:49135772-49135772 T>A 0.0 4258 ENDOMETRIAL - - - - SHC4 ENST00000557797,p.Q133L retained_intron, protein_coding, nonsense_mediated_decay ENST00000557797 nonsynonymous SNV exon6 c.A398T p.Q133L QCEKLCYLVMSIQEGCSPSEIPHY QCEKLCYLVMSILEGCSPSEIPHY 2.0 3.0 - - 4258_15:49135772-49135772 T>A_QCEKLCYLVMSILEGCSPSEIPHY 0.0 15:28436305-28436305 G>C 1.0 4110 BILE DUCT - - - - HERC2 NM_004667,p.P2846R|ENST00000261609,p.P2846R|uc001zbj.4,p.P2846R|uc001zbk.1,p.P381R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001zbk.1 nonsynonymous SNV exon9 c.C1142G p.P381R KMIVDPADSSYMPSLVVVSGGNSLN KMIVDPADSSYMRSLVVVSGGNSLN 7.0 9.0 - - 4110_15:28436305-28436305 G>C_KMIVDPADSSYMRSLVVVSGGNSLN 0.0 16:82104663-82104663 G>A 0.0 2591 MELANOMA - - - - HSD17B2 ENST00000199936,p.V199I|ENST00000566838,p.V75I|NM_002153,p.V199I|ENST00000569351,p.V127I|uc002fgv.3,p.V199I|ENST00000568090,p.V63I protein_coding, TEC uc002fgv.3 nonsynonymous SNV exon3 c.G595A p.V199I QCMAVNFFGTVEVTKTFLPLLRKSK QCMAVNFFGTVEITKTFLPLLRKSK 1.0 2.0 - - 2591_16:82104663-82104663 G>A_QCMAVNFFGTVEITKTFLPLLRKSK 0.0 16:4463368-4463368 G>A 1.0 3678 MELANOMA - - - - CORO7,CORO7-PAM16 NM_001201473,p.S33L|NM_001201472,p.S33L|uc010uxi.2,p.S33L|NM_001201479,p.S33L|ENST00000574025,p.S33L|uc002cwh.4,p.S33L|ENST00000572898,p.S33L|ENST00000572467,p.S33L|ENST00000571059,p.S33L|ENST00000537233,p.S33L|ENST00000251166,p.S33L|NM_024535,p.S33L|ENST00000571756,p.S33L|uc002cwf.3,p.S33L|ENST00000570928,p.S33L|ENST00000575850,p.S46L|uc010uxh.2,p.S33L|ENST00000575038,p.S33L|ENST00000575334,p.S33L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010uxi.2 nonsynonymous SNV exon2 c.C98T p.S33L SWISDIRAGTAPSCRNHIKSSCSLI SWISDIRAGTAPLCRNHIKSSCSLI 8.0 3.0 CD8 - 3678_16:4463368-4463368 G>A_SWISDIRAGTAPLCRNHIKSSCSLI 1.0 6:33254984-33254984 G>A 1.0 3713 MELANOMA - - - - WDR46 uc011dra.2,p.T246I|uc003ods.3,p.T300I|NM_005452,p.T300I|ENST00000444176,p.T227I|ENST00000374617,p.T300I|NM_001164267,p.T246I retained_intron, protein_coding, processed_transcript uc011dra.2 nonsynonymous SNV exon9 c.C737T p.T246I FLLATASETGFLTYLDVSVGKIVAA FLLATASETGFLIYLDVSVGKIVAA 8.0 3.0 CD8 - 3713_6:33254984-33254984 G>A_FLLATASETGFLIYLDVSVGKIVAA 1.0 X:99551676-99551676 C>T 0.0 4252 COLORECTAL - - - - PCDH19 NM_001105243,p.A969T|ENST00000420881,p.A968T|ENST00000255531,p.A969T|NM_020766,p.A968T|uc004efw.4,p.A968T|ENST00000373034,p.A1016T|NM_001184880,p.A1016T|uc010nmz.3,p.A1016T|uc004efx.4,p.A969T protein_coding, processed_transcript uc010nmz.3 nonsynonymous SNV exon6 c.G3046A p.A1016T AYDDCGPTKRTFATFGKDVSDHPAE AYDDCGPTKRTFTTFGKDVSDHPAE 3.0 10.0 - - 4252_X:99551676-99551676 C>T_AYDDCGPTKRTFTTFGKDVSDHPAE 0.0 6:40400092-40400092 C>A 0.0 4298 COLORECTAL - - - - LRFN2 ENST00000338305,p.R254L|uc003oph.1,p.R254L|NM_020737,p.R254L protein_coding uc003oph.1 nonsynonymous SNV exon2 c.G761T p.R254L NPLHCNCELLWLRRLERDDDLETCG NPLHCNCELLWLLRLERDDDLETCG 2.0 8.0 - - 4298_6:40400092-40400092 C>A_NPLHCNCELLWLLRLERDDDLETCG 0.0 15:65242092-65242092 G>A 1.0 4189 MELANOMA 0.0 - - - ANKDD1A ENST00000395723,p.R338Q|ENST00000487867,p.R370Q|uc002aoa.3,p.R461Q|NM_182703,p.R461Q|ENST00000380230,p.R461Q|ENST00000357698,p.R429Q|ENST00000395720,p.R461Q|uc010bha.3,p.R338Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010bha.3 nonsynonymous SNV exon10 c.G1013A p.R338Q WTGTRSYQEHGHRMLLIWLHGVATA WTGTRSYQEHGHQMLLIWLHGVATA 5.0 2.0 - - 4189_15:65242092-65242092 G>A_WTGTRSYQEHGHQMLLIWLHGVATA 0.0 17:28323378-28323378 G>A 0.0 3903 MELANOMA - - - - EFCAB5 uc002het.3,p.G325R|uc010wbj.2,p.G269R|uc010cse.3,p.G204R|NM_001145053,p.G269R|uc010csf.3,p.G204R|NM_198529,p.G325R|uc010wbi.1,p.G68R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wbj.2 nonsynonymous SNV exon6 c.G805A p.G269R LQEFFQNPDFKLGSHCKQLDITDST LQEFFQNPDFKLRSHCKQLDITDST 4.0 1.0 - - 3903_17:28323378-28323378 G>A_LQEFFQNPDFKLRSHCKQLDITDST 0.0 7:77797313-77797313 C>T 0.0 4129 NSCLC - - - - MAGI2 uc010ldx.1,p.R432H|ENST00000522391,p.R839H|uc003ugy.3,p.R825H|NM_001301128,p.R825H|ENST00000354212,p.R839H|uc003ugx.3,p.R839H|NM_012301,p.R839H|ENST00000419488,p.R825H retained_intron, protein_coding, processed_transcript uc010ldx.1 nonsynonymous SNV exon10 c.G1295A p.R432H YVDGIPVAGKTHRYVIDLMHHAARN YVDGIPVAGKTHHYVIDLMHHAARN 3.0 8.0 - - 4129_7:77797313-77797313 C>T_YVDGIPVAGKTHHYVIDLMHHAARN 0.0 5:39202072-39202072 C>T 1.0 3879 MELANOMA - - - - FYB uc003jlu.3,p.E331K|uc003jlt.3,p.E331K|ENST00000512982,p.E331K|ENST00000515010,p.E331K|ENST00000540520,p.E341K|ENST00000505428,p.E331K|uc003jls.3,p.E331K|NM_001243093,p.E341K|NM_001465,p.E331K|NM_199335,p.E331K|ENST00000351578,p.E331K|uc011cpl.2,p.E341K protein_coding, processed_transcript uc011cpl.2 nonsynonymous SNV exon2 c.G1021A p.E341K KLTVGGPWGQSQEKEKGDKNSATPK KLTVGGPWGQSQKKEKGDKNSATPK 5.0 8.0 - - 3879_5:39202072-39202072 C>T_KLTVGGPWGQSQKKEKGDKNSATPK 0.0 17:19559841-19559841 A>C 1.0 4071 COLORECTAL - - - - ALDH3A2 ENST00000571537,p.S43R|ENST00000581518,p.S212R|ENST00000579855,p.S212R|NM_001031806,p.S212R|NM_000382,p.S212R|ENST00000582991,p.S212R|uc002gwb.1,p.S212R|uc010cqr.1,p.S19R|uc002gwa.1,p.S212R|ENST00000176643,p.S212R|ENST00000395575,p.S212R|uc002gwd.1,p.S19R|ENST00000339618,p.S212R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010cqr.1 nonsynonymous SNV exon5 c.A55C p.S19R HLTPVTLELGGKSPCYIDKDCDLDI HLTPVTLELGGKRPCYIDKDCDLDI 9.0 5.0 - - 4071_17:19559841-19559841 A>C_HLTPVTLELGGKRPCYIDKDCDLDI 0.0 1:16058923-16058923 C>T 1.0 2369 MELANOMA - - - - PLEKHM2 ENST00000375799,p.H902Y|NM_015164,p.H902Y|uc010obo.2,p.H902Y|ENST00000375793,p.H882Y protein_coding, processed_transcript uc010obo.2 nonsynonymous SNV exon18 c.C2704T p.H902Y CLVLTDDRLFTCHEDCQTSFFRSLG CLVLTDDRLFTCYEDCQTSFFRSLG 9.0 4.0 CD8 - 2369_1:16058923-16058923 C>T_CLVLTDDRLFTCYEDCQTSFFRSLG 1.0 14:74360572-74360572 A>- 1.0 4345 COLORECTAL - - - - ZNF410 ENST00000540593,p.I36fs|uc001xoz.2,p.I36fs|uc010arz.2,p.I36fs|ENST00000555044,p.I36fs|ENST00000398139,p.I36fs|ENST00000324593,p.I36fs|NM_021188,p.I36fs|NM_001242927,p.I36fs|uc001xpb.2,p.I36fs|ENST00000557495,p.I43fs|ENST00000556396,p.I36fs|ENST00000556160,p.I36fs|ENST00000554797,p.I36fs|ENST00000442160,p.I36fs|ENST00000554582,p.I36fs|NM_001242924,p.I36fs|uc010tuh.2,p.I36fs|ENST00000556659,p.I36fs|NM_001242926,p.I36fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010tuh.2 frameshift deletion exon3 c.106delA p.I36fs LGQGLVESEAKDITCLSLLPVTEASE LGQGLVESEAKDLLACPSFP 9.0 3.0 - - 4345_14:74360572-74360572 A>-_LGQGLVESEAKDLLACPSFP 0.0 4:156784892-156784892 T>A 0.0 4346 COLORECTAL - - - - ASIC5 NM_017419,p.I19L|ENST00000537611,p.I19L|uc003ipe.1,p.I19L protein_coding uc003ipe.1 nonsynonymous SNV exon2 c.A55T p.I19L SKVYAENGLLEKIKLCLSKKPLPSP SKVYAENGLLEKLKLCLSKKPLPSP 1.0 7.0 - - 4346_4:156784892-156784892 T>A_SKVYAENGLLEKLKLCLSKKPLPSP 0.0 X:120182697-120182697 C>A 0.0 4110 BILE DUCT - - - - GLUD2 uc004eto.3,p.Q387K|ENST00000328078,p.Q387K|NM_012084,p.Q387K protein_coding uc004eto.3 nonsynonymous SNV exon1 c.C1159A p.Q387K DCDILIPAATEKQLTKSNAPRVKAK DCDILIPAATEKKLTKSNAPRVKAK 7.0 10.0 - - 4110_X:120182697-120182697 C>A_DCDILIPAATEKKLTKSNAPRVKAK 0.0 5:169494666-169494666 G>A 0.0 3919 MELANOMA - - - - DOCK2 ENST00000256935,p.M1540I|uc003mah.3,p.M96I|NM_004946,p.M1540I|ENST00000540750,p.M601I|uc010jjm.3,p.M1032I|ENST00000520908,p.M1032I|uc003maf.3,p.M1540I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010jjm.3 nonsynonymous SNV exon31 c.G3096A p.M1032I SMLLNGIVDPAVMGGFAKYEKAFFT SMLLNGIVDPAVIGGFAKYEKAFFT 3.0 10.0 - - 3919_5:169494666-169494666 G>A_SMLLNGIVDPAVIGGFAKYEKAFFT 0.0 5:140481191-140481191 G>A 0.0 4095 COLORECTAL - - - - PCDHB3 ENST00000231130,p.E320K|NM_018937,p.E320K|uc003lio.3,p.E320K protein_coding uc003lio.3 nonsynonymous SNV exon1 c.G958A p.E320K NFEAINSYEVDIEAKDGGGLSGKST NFEAINSYEVDIKAKDGGGLSGKST 3.0 8.0 - - 4095_5:140481191-140481191 G>A_NFEAINSYEVDIKAKDGGGLSGKST 0.0 9:119903607-119903607 C>T 0.0 3713 MELANOMA - - - - ASTN2 ENST00000373996,p.R389Q|uc022bml.1,p.R38Q|ENST00000373986,p.R116Q|ENST00000313400,p.R389Q|uc022bmm.1,p.R38Q protein_coding uc022bmm.1 nonsynonymous SNV exon2 c.G113A p.R38Q TSAGKRKRRSKSRGGISFGRAKGTS TSAGKRKRRSKSQGGISFGRAKGTS 3.0 8.0 - - 3713_9:119903607-119903607 C>T_TSAGKRKRRSKSQGGISFGRAKGTS 0.0 1:115828972-115828972 C>T 0.0 4278 COLORECTAL - - ID=COSM1497670;OCCURENCE=1(lung) - NGF ENST00000369512,p.A149T|NM_002506,p.A149T|uc021osd.1,p.A149T|uc001efu.1,p.A149T protein_coding uc021osd.1 nonsynonymous SNV exon1 c.G445A p.A149T DSVSVWVGDKTTATDIKGKEVMVLG DSVSVWVGDKTTTTDIKGKEVMVLG 4.0 9.0 - - 4278_1:115828972-115828972 C>T_DSVSVWVGDKTTTTDIKGKEVMVLG 0.0 17:27908945-27908945 C>T 0.0 4258 ENDOMETRIAL - - - - GIT1 NM_014030,p.R208K|ENST00000225394,p.R208K|ENST00000579937,p.R208K|uc010wbg.1,p.R208K|ENST00000394869,p.R208K|ENST00000581348,p.R208K|uc002heg.2,p.R208K|uc002hef.2,p.R208K|NM_001085454,p.R208K retained_intron, protein_coding, nonsense_mediated_decay uc010wbg.1 nonsynonymous SNV exon5 c.G623A p.R208K PDVNGRTPIDYARQAGHHELAERLV PDVNGRTPIDYAKQAGHHELAERLV 7.0 3.0 - - 4258_17:27908945-27908945 C>T_PDVNGRTPIDYAKQAGHHELAERLV 0.0 1:35847180-35847180 C>T 1.0 3716 MELANOMA - - - - ZMYM4 NM_005095,p.H464Y|ENST00000373297,p.H464Y|uc009vuv.3,p.H203Y|ENST00000314607,p.H464Y|uc001byu.3,p.H140Y|uc001byt.3,p.H464Y|uc009vuu.3,p.H432Y protein_coding, processed_transcript uc009vuv.3 nonsynonymous SNV exon8 c.C607T p.H203Y VIRHEVNYQNVVHKLCSDACFSKFR VIRHEVNYQNVVYKLCSDACFSKFR 9.0 7.0 CD8 - 3716_1:35847180-35847180 C>T_VIRHEVNYQNVVYKLCSDACFSKFR 1.0 4:120517689-120517689 G>A 1.0 3713 MELANOMA - - - - PDE5A ENST00000264805,p.H232Y|uc003idf.3,p.H232Y|uc003idg.3,p.H222Y|ENST00000354960,p.H274Y|NM_033437,p.H222Y|NM_033430,p.H232Y|uc003idh.3,p.H274Y|ENST00000394439,p.H222Y|NM_001083,p.H274Y retained_intron, protein_coding, processed_transcript uc003idh.3 nonsynonymous SNV exon3 c.C820T p.H274Y KTQSILCMPIKNHREEVVGVAQAIN KTQSILCMPIKNYREEVVGVAQAIN 3.0 10.0 - - 3713_4:120517689-120517689 G>A_KTQSILCMPIKNYREEVVGVAQAIN 0.0 3:101038613-101038613 G>C 1.0 4196 COLORECTAL - - - - IMPG2 NM_016247,p.P50R|uc003duq.2,p.P50R|ENST00000193391,p.P50R protein_coding uc003duq.2 nonsynonymous SNV exon2 c.C149G p.P50R IQEPKSAVSFLLPEESTDLSLATKK IQEPKSAVSFLLREESTDLSLATKK 4.0 10.0 - - 4196_3:101038613-101038613 G>C_IQEPKSAVSFLLREESTDLSLATKK 0.0 22:42262867-42262867 G>C 0.0 4069 PANCREATIC - - - - SREBF2 uc003bbi.3,p.E41Q|NM_004599,p.E41Q|ENST00000361204,p.E41Q|ENST00000424354,p.E41Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003bbi.3 nonsynonymous SNV exon2 c.G121C p.E41Q DEMLQFVSNQVGEFPDLFSEQLCSS DEMLQFVSNQVGQFPDLFSEQLCSS 10.0 3.0 - - 4069_22:42262867-42262867 G>C_DEMLQFVSNQVGQFPDLFSEQLCSS 0.0 7:48494709-48494709 G>A 1.0 4284 COLORECTAL - - - - ABCA13 ENST00000411975,p.R17Q|uc031sxh.1,p.R1895Q|uc010kys.2,p.R1895Q|uc003toq.2,p.R4214Q|NM_152701,p.R4214Q|ENST00000435803,p.R4214Q|uc031sxg.1,p.R1895Q retained_intron, protein_coding, nonsense_mediated_decay uc031sxh.1 nonsynonymous SNV exon26 c.G5684A p.R1895Q QLLRAQVAAILARRLRRTLRAGKST QLLRAQVAAILAQRLRRTLRAGKST 5.0 9.0 - - 4284_7:48494709-48494709 G>A_QLLRAQVAAILAQRLRRTLRAGKST 0.0 11:111412293-111412293 A>T 0.0 4335 COLORECTAL - - - - LAYN ENST00000375615,p.D31V|NM_001258390,p.D31V|uc001plr.2,p.D31V|ENST00000525126,p.D31V protein_coding, processed_transcript, nonsense_mediated_decay uc001plr.2 nonsynonymous SNV exon2 c.A92T p.D31V LRAATGRLLSASDLDLRGGQPVCRG LRAATGRLLSASVLDLRGGQPVCRG 6.0 6.0 - - 4335_11:111412293-111412293 A>T_LRAATGRLLSASVLDLRGGQPVCRG 0.0 16:58030774-58030774 G>A 1.0 4301 MELANOMA - - - - ZNF319 uc002emx.1,p.R466C|NM_020807,p.R466C|ENST00000299237,p.R466C|uc021tjd.1,p.R466C protein_coding uc021tjd.1 nonsynonymous SNV exon1 c.C1396T p.R466C AEKPLRCTLCERRFFSSSEFVQHRC AEKPLRCTLCERCFFSSSEFVQHRC 7.0 5.0 - - 4301_16:58030774-58030774 G>A_AEKPLRCTLCERCFFSSSEFVQHRC 0.0 17:54990779-54990779 G>T 1.0 2359 MELANOMA - - - - TRIM25 uc002iut.3,p.L191M|ENST00000537230,p.L191M|NM_005082,p.L191M|ENST00000316881,p.L191M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002iut.3 nonsynonymous SNV exon1 c.C571A p.L191M CLVEHKTCSPASLSQASADLEATLR CLVEHKTCSPASMSQASADLEATLR 9.0 8.0 - - 2359_17:54990779-54990779 G>T_CLVEHKTCSPASMSQASADLEATLR 0.0 5:140590706-140590706 G>A 1.0 4240 BREAST - - - - PCDHB12 uc003liz.3,p.G743R|ENST00000541609,p.G406R|NM_018932,p.G743R|uc011dak.2,p.G406R|ENST00000239450,p.G743R protein_coding uc011dak.2 nonsynonymous SNV exon2 c.G1216A p.G406R PFPGHLVDVSGTGTLSQSYHYEVCV PFPGHLVDVSGTRTLSQSYHYEVCV 5.0 7.0 - - 4240_5:140590706-140590706 G>A_PFPGHLVDVSGTRTLSQSYHYEVCV 0.0 14:91739979-91739979 C>T 0.0 4189 MELANOMA - - - - CCDC88C ENST00000331194,p.D217N|uc001xzi.3,p.D143N|uc010aty.3,p.D1693N|NM_001080414,p.D1693N|uc001xzj.3,p.D217N|ENST00000389857,p.D1693N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010aty.3 nonsynonymous SNV exon30 c.G5077A p.D1693N RSSPTHDTPSCRDDLLSDYFRKASD RSSPTHDTPSCRNDLLSDYFRKASD 6.0 6.0 - - 4189_14:91739979-91739979 C>T_RSSPTHDTPSCRNDLLSDYFRKASD 0.0 17:57106010-57106010 G>T 1.0 4046 OVARIAN - - - - TRIM37 NM_001005207,p.L675I|uc002iwy.4,p.L675I|uc002iwz.4,p.L675I|ENST00000262294,p.L675I|uc002ixa.4,p.L553I|ENST00000376149,p.L553I|uc010woc.2,p.L641I|ENST00000393065,p.L641I|NM_015294,p.L675I|ENST00000393066,p.L675I retained_intron, protein_coding, nonsense_mediated_decay uc010woc.2 nonsynonymous SNV exon18 c.C1921A p.L641I QAMWRVPSDLKMLKRLKTQMAEVRC QAMWRVPSDLKMIKRLKTQMAEVRC 7.0 8.0 - - 4046_17:57106010-57106010 G>T_QAMWRVPSDLKMIKRLKTQMAEVRC 0.0 4:71115025-71115025 C>T 0.0 3903 MELANOMA - - - - CSN3 uc003hfe.4,p.T133I|ENST00000304954,p.T133I|NM_005212,p.T133I protein_coding uc003hfe.4 nonsynonymous SNV exon4 c.C398T p.T133I PPKKIQDKIIIPTINTIATVEPTPA PPKKIQDKIIIPIINTIATVEPTPA 1.0 8.0 - - 3903_4:71115025-71115025 C>T_PPKKIQDKIIIPIINTIATVEPTPA 0.0 8:95262609-95262609 C>T 1.0 4244 COLORECTAL - - - - GEM ENST00000396194,p.V274M|ENST00000297596,p.V274M|uc003ygi.3,p.V274M|NM_181702,p.V274M|uc003ygj.3,p.V274M|NM_005261,p.V274M retained_intron, protein_coding uc003ygj.3 nonsynonymous SNV exon5 c.G820A p.V274M MPRKARRFWGKIVAKNNKNMAFKLK MPRKARRFWGKIMAKNNKNMAFKLK 8.0 9.0 - - 4244_8:95262609-95262609 C>T_MPRKARRFWGKIMAKNNKNMAFKLK 0.0 3:44607138-44607138 G>A 0.0 4158 COLORECTAL - - - - ZKSCAN7 uc010hin.3,p.G195R|ENST00000273320,p.G195R|uc003cnj.3,p.G195R|uc003cnk.3,p.G195R|NM_001288592,p.G45R|uc010hio.3,p.G45R|uc003cni.3,p.G195R|NM_018651,p.G195R|ENST00000431636,p.G195R|ENST00000426540,p.G195R|ENST00000447279,p.G45R|ENST00000419137,p.G30R|NM_025169,p.G195R|ENST00000341840,p.G195R|NM_001288591,p.G195R|NM_001288590,p.G195R retained_intron, protein_coding, nonsense_mediated_decay uc010hio.3 nonsynonymous SNV exon2 c.G133A p.G45R PPYDPGTHHLPSGDFAQCTSPVPTL PPYDPGTHHLPSRDFAQCTSPVPTL 4.0 5.0 - - 4158_3:44607138-44607138 G>A_PPYDPGTHHLPSRDFAQCTSPVPTL 0.0 7:92132489-92132489 C>T 1.0 3713 MELANOMA - - - - PEX1 ENST00000541751,p.E115K|ENST00000248633,p.E698K|NM_001282678,p.E490K|uc003uly.3,p.E698K|ENST00000438045,p.E376K|uc011khs.2,p.E376K|uc011khr.2,p.E490K|NM_000466,p.E698K retained_intron, protein_coding, nonsense_mediated_decay uc011khs.2 nonsynonymous SNV exon10 c.G1126A p.E376K QRLAHALNDMIKEFISMGSLVALIA QRLAHALNDMIKKFISMGSLVALIA 8.0 8.0 - - 3713_7:92132489-92132489 C>T_QRLAHALNDMIKKFISMGSLVALIA 0.0 5:81573660-81573660 C>T 1.0 4287 COLORECTAL - - - - RPS23 ENST00000510019,p.G6R|ENST00000296674,p.G6R|NM_001025,p.G6R|ENST00000511844,p.G6R|ENST00000510210,p.G6R|ENST00000512493,p.G6R|ENST00000507980,p.G6R|uc003khu.3,p.G6R retained_intron, protein_coding, processed_transcript uc003khu.3 nonsynonymous SNV exon2 c.G16A p.G6R MGKCRGLRTARKLRSHRR MGKCRRLRTARKLRSHRR 10.0 4.0 - - 4287_5:81573660-81573660 C>T_MGKCRRLRTARKLRSHRR 0.0 3:52406940-52406940 G>A 1.0 4110 BILE DUCT - - - - DNAH1 uc011bef.2,p.G2286R|ENST00000420323,p.G2286R|NM_015512,p.G2286R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bef.2 nonsynonymous SNV exon44 c.G6856A p.G2286R DKRRKGVFGPPLGRNFIFFIDDLNM DKRRKGVFGPPLRRNFIFFIDDLNM 4.0 9.0 - - 4110_3:52406940-52406940 G>A_DKRRKGVFGPPLRRNFIFFIDDLNM 0.0 8:120886196-120886196 G>A 0.0 4246 COLORECTAL - - - - DEPTOR ENST00000523492,p.G37E|NM_001283012,p.G37E|uc011lid.2,p.G37E protein_coding, processed_transcript uc011lid.2 nonsynonymous SNV exon1 c.G110A p.G37E RELERMAEVLVTGEQLRLMSPENTL RELERMAEVLVTEEQLRLMSPENTL 6.0 10.0 - - 4246_8:120886196-120886196 G>A_RELERMAEVLVTEEQLRLMSPENTL 0.0 2:72359552-72359552 T>C 0.0 4252 COLORECTAL - - - - CYP26B1 ENST00000001146,p.K448R|ENST00000546307,p.K373R|uc010yra.1,p.K431R|NM_001277742,p.K373R|NM_019885,p.K448R|uc002sih.2,p.K448R|ENST00000412253,p.K257R|uc010yrb.2,p.K373R protein_coding uc010yrb.2 nonsynonymous SNV exon5 c.A1118G p.K373R GGVRTCLGKHLAKLFLKVLAVELAS GGVRTCLGKHLARLFLKVLAVELAS 4.0 10.0 - - 4252_2:72359552-72359552 T>C_GGVRTCLGKHLARLFLKVLAVELAS 0.0 9:93636512-93636512 A>C 0.0 4345 COLORECTAL - - - 1 SYK NM_001135052,p.Q291H|ENST00000375751,p.Q291H|NM_001174168,p.Q291H|ENST00000375747,p.Q291H|uc004arb.3,p.Q291H|uc004ara.3,p.Q291H protein_coding, processed_transcript uc004arb.3 nonsynonymous SNV exon7 c.A873C p.Q291H SHPASSPAQGNRQESTVSFNPYEPE SHPASSPAQGNRHESTVSFNPYEPE 6.0 6.0 - - 4345_9:93636512-93636512 A>C_SHPASSPAQGNRHESTVSFNPYEPE 0.0 16:68597118-68597118 C>T 1.0 3713 MELANOMA - - - - ZFP90 ENST00000398253,p.S143F|NM_133458,p.S143F|ENST00000570495,p.S143F|uc002ewd.3,p.S143F|uc002ewe.3,p.S143F|uc010cff.3,p.S143F|ENST00000563169,p.S143F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010cff.3 nonsynonymous SNV exon5 c.C428T p.S143F QENWKRHLGSEASTQKKIITPQENF QENWKRHLGSEAFTQKKIITPQENF 3.0 3.0 - - 3713_16:68597118-68597118 C>T_QENWKRHLGSEAFTQKKIITPQENF 0.0 19:35632105-35632105 T>C 0.0 4186 BREAST - - - - FXYD1 NM_001278717,p.V55A|ENST00000588715,p.V55A|ENST00000588081,p.V55A|ENST00000351325,p.V55A|uc002nyd.3,p.V55A|uc002nyc.3,p.V55A|ENST00000589209,p.V55A|NM_001278718,p.V55A|NM_005031,p.V55A|ENST00000588607,p.V55A|NM_021902,p.V55A|ENST00000455515,p.V55A retained_intron, protein_coding uc002nyd.3 nonsynonymous SNV exon4 c.T164C p.V55A IAGILFILGILIVLSRRCRCKFNQQ IAGILFILGILIALSRRCRCKFNQQ 6.0 9.0 - - 4186_19:35632105-35632105 T>C_IAGILFILGILIALSRRCRCKFNQQ 0.0 22:38121888-38121888 C>T 1.0 3713 MELANOMA - - - - TRIOBP uc003atq.1,p.P1109S|uc003atr.3,p.P1109S|uc003ats.1,p.P937S|ENST00000406386,p.P1109S|NM_001039141,p.P1109S|uc003atu.3,p.P937S retained_intron, protein_coding, nonsense_mediated_decay uc003atu.3 nonsynonymous SNV exon5 c.C2809T p.P937S QCQSPQHEPLQLPAPVCIGYRDAPR QCQSPQHEPLQLSAPVCIGYRDAPR 10.0 5.0 - - 3713_22:38121888-38121888 C>T_QCQSPQHEPLQLSAPVCIGYRDAPR 0.0 5:102491662-102491662 C>T 1.0 3713 MELANOMA - - - - PPIP5K2 NM_015216,p.P485S|NM_001276277,p.P485S|uc010jbo.2,p.P407S|ENST00000414217,p.P485S|ENST00000321521,p.P485S|uc003koe.4,p.P485S|uc003kod.5,p.P485S|ENST00000507921,p.P407S|ENST00000358359,p.P485S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010jbo.2 nonsynonymous SNV exon12 c.C1219T p.P407S SGINRKVQLTYLPHGCPKTSSEEED SGINRKVQLTYLSHGCPKTSSEEED 8.0 5.0 - - 3713_5:102491662-102491662 C>T_SGINRKVQLTYLSHGCPKTSSEEED 0.0 22:45795077-45795077 C>G 0.0 4238 COLORECTAL - - - - SMC1B NM_148674,p.E337D|NM_001291501,p.E337D|uc003bge.1,p.E120D|uc003bgd.3,p.E337D|uc003bgc.3,p.E337D|ENST00000357450,p.E337D|ENST00000404354,p.E337D protein_coding uc003bge.1 nonsynonymous SNV exon4 c.G360C p.E120D QCSKQEDDIKALETELADLDAAWRS QCSKQEDDIKALDTELADLDAAWRS 1.0 7.0 - - 4238_22:45795077-45795077 C>G_QCSKQEDDIKALDTELADLDAAWRS 0.0 13:101257339-101257339 G>A 1.0 3713 MELANOMA - - - - TMTC4 NM_032813,p.S731F|ENST00000376234,p.S712F|NM_001079669,p.S712F|NM_001286453,p.S601F|ENST00000328767,p.S601F|uc010tja.2,p.S601F|ENST00000342624,p.S731F|uc001vot.3,p.S731F|uc001vou.3,p.S712F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010tja.2 nonsynonymous SNV exon16 c.C1802T p.S601F GHLDLAKKHYEISLQLDPTASGTKE GHLDLAKKHYEIFLQLDPTASGTKE 5.0 8.0 - - 3713_13:101257339-101257339 G>A_GHLDLAKKHYEIFLQLDPTASGTKE 0.0 4:47853938-47853938 G>T 0.0 4077 BILE DUCT - - - - NFXL1 uc003gxp.3,p.R815S|NM_001278624,p.R815S|ENST00000381538,p.R815S|ENST00000507489,p.R815S|uc003gxo.3,p.R140S|uc010igi.3,p.R815S|uc010igh.3,p.R815S|NM_001278623,p.R815S|NM_152995,p.R815S retained_intron, protein_coding, nonsense_mediated_decay uc010igi.3 nonsynonymous SNV exon21 c.C2443A p.R815S KRIKKELQCNKVRENQVSIECDTTC KRIKKELQCNKVSENQVSIECDTTC 6.0 7.0 - - 4077_4:47853938-47853938 G>T_KRIKKELQCNKVSENQVSIECDTTC 0.0 10:17659217-17659217 G>A 1.0 4252 COLORECTAL - - - - PTPLA uc001iph.1,p.A41V|ENST00000361271,p.A41V|uc001ipi.3,p.A41V|uc001ipg.3,p.A41V|NM_014241,p.A41V|ENST00000326961,p.A41V retained_intron, protein_coding, nonsense_mediated_decay uc001ipi.3 nonsynonymous SNV exon1 c.C122T p.A41V LSPTSPRCAATMASSDEDGTNGGAS LSPTSPRCAATMVSSDEDGTNGGAS 9.0 9.0 - - 4252_10:17659217-17659217 G>A_LSPTSPRCAATMVSSDEDGTNGGAS 0.0 19:36157731-36157731 C>A 0.0 4287 COLORECTAL - - - - UPK1A uc002oaw.3,p.A6E|NM_001281443,p.A6E|uc010eeh.3,p.A6E|NM_007000,p.A6E|ENST00000222275,p.A6E|ENST00000379013,p.A6E protein_coding uc010eeh.3 nonsynonymous SNV exon1 c.C17A p.A6E MASAAAAEAEKGSPVVVG MASAAEAEAEKGSPVVVG 1.0 8.0 - - 4287_19:36157731-36157731 C>A_MASAAEAEAEKGSPVVVG 0.0 19:5645402-5645402 A>G 1.0 2369 MELANOMA 0.0 - - - SAFB ENST00000292123,p.I201V|NM_001201338,p.I201V|uc002mcg.3,p.I201V|ENST00000538656,p.I44V|ENST00000588852,p.I201V|NM_002967,p.I201V|uc010xit.2,p.I44V|uc010xir.2,p.I201V|NM_001201340,p.I132V|ENST00000454510,p.I132V|NM_001201339,p.I201V|ENST00000433404,p.I31V|uc002mcf.3,p.I201V|uc010xis.2,p.I132V|ENST00000592224,p.I201V|uc002mce.4,p.I201V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010xit.2 nonsynonymous SNV exon3 c.A130G p.I44V INNLDTSSSDFTILQEIEEPSLEPE INNLDTSSSDFTVLQEIEEPSLEPE 10.0 4.0 - - 2369_19:5645402-5645402 A>G_INNLDTSSSDFTVLQEIEEPSLEPE 0.0 7:44286784-44286784 T>C 0.0 4275 COLORECTAL - - - - CAMK2B ENST00000424197,p.I129V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000424197 nonsynonymous SNV exon6 c.A385G p.I129V RTNPPAVCHSHCIQQILEAVLHCHQ RTNPPAVCHSHCVQQILEAVLHCHQ 4.0 1.0 - - 4275_7:44286784-44286784 T>C_RTNPPAVCHSHCVQQILEAVLHCHQ 0.0 1:82437593-82437593 C>A 0.0 4259 COLORECTAL - - - - LPHN2 ENST00000370721,p.F925L|ENST00000370728,p.F1000L|uc009wcd.3,p.F987L|uc001div.3,p.F987L|ENST00000370715,p.F987L|ENST00000370717,p.F1000L|uc001diw.3,p.F571L|NM_012302,p.F987L|NM_001297705,p.F987L|ENST00000370713,p.F987L|ENST00000271029,p.F1000L|NM_001297706,p.F987L|uc001dit.4,p.F987L|ENST00000394879,p.F987L|uc001diu.3,p.F987L|ENST00000370723,p.F987L|ENST00000319517,p.F987L|uc009wce.1,p.F73L|ENST00000335786,p.F1000L|NM_001297704,p.F987L|ENST00000370730,p.F1000L|ENST00000370725,p.F1000L|ENST00000359929,p.F987L|ENST00000370727,p.F1000L protein_coding, processed_transcript uc009wce.1 nonsynonymous SNV exon2 c.C219A p.F73L NYFIWSFIGPVTFIILLNIIFLVIT NYFIWSFIGPVTLIILLNIIFLVIT 7.0 7.0 - - 4259_1:82437593-82437593 C>A_NYFIWSFIGPVTLIILLNIIFLVIT 0.0 2:58425718-58425718 G>A 0.0 3713 MELANOMA - - - - FANCL ENST00000402135,p.P184L|NM_001114636,p.P184L|uc002rzx.4,p.P184L|ENST00000417361,p.P67L retained_intron, protein_coding, processed_transcript uc002rzx.4 nonsynonymous SNV exon7 c.C551T p.P184L PFCASWTPQVNSPQSSLISIYSQFL PFCASWTPQVNSLQSSLISIYSQFL 6.0 7.0 - - 3713_2:58425718-58425718 G>A_PFCASWTPQVNSLQSSLISIYSQFL 0.0 19:55494319-55494319 C>T 0.0 4160 COLORECTAL - - - - NLRP2 NM_001174082,p.P396L|ENST00000263437,p.P415L|uc010esp.3,p.P396L|uc002qij.3,p.P418L|uc021vbq.1,p.P418L|uc010yfp.2,p.P395L|uc010esn.3,p.P394L|NM_001174083,p.P395L|ENST00000538819,p.P394L|ENST00000537859,p.P396L|ENST00000543010,p.P418L|ENST00000427260,p.P395L|NM_017852,p.P418L|uc010eso.3,p.P415L|ENST00000391721,p.P394L|NM_001174081,p.P418L|ENST00000448584,p.P418L|ENST00000339757,p.P396L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021vbq.1 nonsynonymous SNV exon6 c.C1253T p.P418L TTLKLQMEKGEDPVPTCLTRTGLFL TTLKLQMEKGEDLVPTCLTRTGLFL 4.0 6.0 - - 4160_19:55494319-55494319 C>T_TTLKLQMEKGEDLVPTCLTRTGLFL 0.0 3:39184881-39184881 G>A 1.0 3713 MELANOMA - - - - CSRNP1 uc003cjh.3,p.P479S|ENST00000273153,p.P479S|NM_033027,p.P479S|uc003cjg.3,p.P479S|ENST00000514182,p.P479S protein_coding uc003cjh.3 nonsynonymous SNV exon5 c.C1435T p.P479S NGGLEGSREGSLPGTSVPPSMDAGR NGGLEGSREGSLSGTSVPPSMDAGR 4.0 4.0 - - 3713_3:39184881-39184881 G>A_NGGLEGSREGSLSGTSVPPSMDAGR 0.0 17:1800405-1800405 C>T 1.0 2556 MELANOMA - - - - RPA1 NM_002945,p.P596L|ENST00000254719,p.P596L|uc002fto.2,p.P596L|ENST00000574049,p.P293L retained_intron, protein_coding, processed_transcript uc002fto.2 nonsynonymous SNV exon17 c.C1787T p.P596L ESRIKATVMDVKPVDYREYGRRLVM ESRIKATVMDVKLVDYREYGRRLVM 9.0 6.0 - - 2556_17:1800405-1800405 C>T_ESRIKATVMDVKLVDYREYGRRLVM 0.0 11:118355021-118355021 G>A 0.0 4234 NSCLC - - - 1 KMT2A NM_001197104,p.D1404N|NM_005933,p.D1404N|uc001ptb.3,p.D1404N|ENST00000534358,p.D1404N|ENST00000389506,p.D1404N|uc001pta.3,p.D1404N retained_intron, protein_coding, processed_transcript uc001ptb.3 nonsynonymous SNV exon9 c.G4210A p.D1404N KIPADGVHRIRVDFKEDCEAENVWE KIPADGVHRIRVNFKEDCEAENVWE 8.0 2.0 - - 4234_11:118355021-118355021 G>A_KIPADGVHRIRVNFKEDCEAENVWE 0.0 6:7585866-7585866 C>T 1.0 2556 MELANOMA - - - - DSP uc003mxq.1,p.R2192C|ENST00000379802,p.R2791C|uc021yle.1,p.R2348C|NM_001008844,p.R2192C|ENST00000418664,p.R2192C|NM_004415,p.R2791C|uc003mxp.1,p.R2791C retained_intron, protein_coding uc021yle.1 nonsynonymous SNV exon24 c.C7042T p.R2348C TKLKISYKDAINRSMVEDITGLRLL TKLKISYKDAINCSMVEDITGLRLL 7.0 4.0 - - 2556_6:7585866-7585866 C>T_TKLKISYKDAINCSMVEDITGLRLL 0.0 9:125941304-125941304 G>A 1.0 3713 MELANOMA - - - - STRBP ENST00000360998,p.A55V|uc004bns.3,p.A69V|NM_018387,p.A69V|uc004bnu.3,p.A55V|uc004bnv.3,p.A69V|NM_001171137,p.A55V|ENST00000348403,p.A69V|ENST00000447404,p.A69V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004bnv.3 nonsynonymous SNV exon3 c.C206T p.A69V KTEGETEVKKDEAGENYSKDQGGRT KTEGETEVKKDEVGENYSKDQGGRT 4.0 2.0 - - 3713_9:125941304-125941304 G>A_KTEGETEVKKDEVGENYSKDQGGRT 0.0 13:25067737-25067737 G>C 1.0 4071 COLORECTAL - - - - PARP4 uc001upl.3,p.N292K|ENST00000381989,p.N292K|uc010tdc.2,p.N292K|NM_006437,p.N292K retained_intron, protein_coding, processed_transcript uc010tdc.2 nonsynonymous SNV exon8 c.C876G p.N292K HMLLKPVNRISLNDVSKAEGILLLV HMLLKPVNRISLKDVSKAEGILLLV 10.0 8.0 - - 4071_13:25067737-25067737 G>C_HMLLKPVNRISLKDVSKAEGILLLV 0.0 1:109486627-109486627 C>T 1.0 2591 MELANOMA - - - - CLCC1 NM_001048210,p.R131K|uc001dwf.2,p.R131K|ENST00000356970,p.R131K|ENST00000369971,p.R131K|ENST00000369976,p.R131K|uc001dwh.2,p.R131K|uc021ora.1,p.R131K protein_coding, processed_transcript uc021ora.1 nonsynonymous SNV exon4 c.G392A p.R131K GDMHYDAEIILKRETLLEIQKFLNG GDMHYDAEIILKKETLLEIQKFLNG 8.0 4.0 - - 2591_1:109486627-109486627 C>T_GDMHYDAEIILKKETLLEIQKFLNG 0.0 11:78381515-78381515 G>A 0.0 2359 MELANOMA - - - - TENM4 uc001ozk.4,p.P184S|ENST00000278550,p.P1959S|NM_001098816,p.P1959S|ENST00000530738,p.P423S|uc001ozl.4,p.P1959S retained_intron, protein_coding, processed_transcript uc001ozl.4 nonsynonymous SNV exon32 c.C5875T p.P1959S FDKNDRLSSVTMPNVARQTLETIRS FDKNDRLSSVTMSNVARQTLETIRS 5.0 9.0 - - 2359_11:78381515-78381515 G>A_FDKNDRLSSVTMSNVARQTLETIRS 0.0 8:27779582-27779582 G>A 0.0 4316 COLORECTAL - - - - SCARA5 uc003xgl.3,p.A141V|NM_173833,p.A141V|ENST00000524352,p.A141V|ENST00000301906,p.A98V|ENST00000518030,p.A98V|uc003xgj.3,p.A141V|ENST00000354914,p.A141V|uc003xgk.3,p.A98V protein_coding uc003xgl.3 nonsynonymous SNV exon4 c.C422T p.A141V QDALQNQSDSLLALAGAVQRLEGAL QDALQNQSDSLLVLAGAVQRLEGAL 1.0 10.0 - - 4316_8:27779582-27779582 G>A_QDALQNQSDSLLVLAGAVQRLEGAL 0.0 18:44738480-44738480 C>T 0.0 4316 COLORECTAL - - - - SKOR2 uc031rif.1,p.A1010T|NM_001278063,p.A1010T protein_coding uc031rif.1 nonsynonymous SNV exon7 c.G3028A p.A1010T YAASLIRKEKLGAHLSKS YAASLIRKEKLGTHLSKS 7.0 6.0 - - 4316_18:44738480-44738480 C>T_YAASLIRKEKLGTHLSKS 0.0 1:152282568-152282568 C>A 1.0 4129 NSCLC - - - - FLG NM_002016,p.R1598S|uc001ezu.1,p.R1598S|ENST00000368799,p.R1598S protein_coding uc001ezu.1 nonsynonymous SNV exon3 c.G4794T p.R1598S TSRRQGSSVSQDRDSEGHSEDSERR TSRRQGSSVSQDSDSEGHSEDSERR 1.0 10.0 - - 4129_1:152282568-152282568 C>A_TSRRQGSSVSQDSDSEGHSEDSERR 0.0 16:1411953-1411953 T>G 1.0 4345 COLORECTAL - - - - GNPTG NM_032520,p.L105R|ENST00000204679,p.L105R|uc002clm.3,p.L105R retained_intron, protein_coding, nonsense_mediated_decay uc002clm.3 nonsynonymous SNV exon5 c.T314G p.L105R EQTFRWNAYSGILGIWHEWEIANNT EQTFRWNAYSGIRGIWHEWEIANNT 10.0 7.0 CD8 - 4345_16:1411953-1411953 T>G_EQTFRWNAYSGIRGIWHEWEIANNT 1.0 16:65016072-65016072 C>T 0.0 4326 BREAST - - - 1 CDH11 uc002eoj.3,p.D378N|uc010vin.2,p.D252N|ENST00000566827,p.D252N|ENST00000268603,p.D378N|uc002eoi.3,p.D378N|ENST00000394156,p.D378N|NM_001797,p.D378N retained_intron, protein_coding, processed_transcript uc010vin.2 nonsynonymous SNV exon7 c.G754A p.D252N DTVTVKISVEDADEPPMFLAPSYIH DTVTVKISVEDANEPPMFLAPSYIH 9.0 3.0 - - 4326_16:65016072-65016072 C>T_DTVTVKISVEDANEPPMFLAPSYIH 0.0 1:39877004-39877004 G>T 1.0 4071 COLORECTAL - - - - KIAA0754 uc009vvt.1,p.S356I|NM_015038,p.S356I|ENST00000530275,p.S220I protein_coding uc009vvt.1 nonsynonymous SNV exon1 c.G1067T p.S356I REKTFLMADEKNSLADIFEEREQAN REKTFLMADEKNILADIFEEREQAN 6.0 8.0 - - 4071_1:39877004-39877004 G>T_REKTFLMADEKNILADIFEEREQAN 0.0 9:84606978-84606978 C>A 1.0 4196 COLORECTAL - - - - SPATA31D1 ENST00000344803,p.F531L|uc004amn.3,p.F531L|NM_001001670,p.F531L protein_coding uc004amn.3 nonsynonymous SNV exon4 c.C1593A p.F531L VLVQRGHSSMFVFFNGITNTSISHE VLVQRGHSSMFVLFNGITNTSISHE 5.0 6.0 - - 4196_9:84606978-84606978 C>A_VLVQRGHSSMFVLFNGITNTSISHE 0.0 15:64967089-64967089 C>T 1.0 4258 ENDOMETRIAL - - - - ZNF609 uc002ann.3,p.A679V|NM_015042,p.A679V|ENST00000326648,p.A679V protein_coding, processed_transcript uc002ann.3 nonsynonymous SNV exon4 c.C2036T p.A679V QIYTFQTATFTAASPGSSSGLTATV QIYTFQTATFTAVSPGSSSGLTATV 7.0 8.0 - - 4258_15:64967089-64967089 C>T_QIYTFQTATFTAVSPGSSSGLTATV 0.0 X:144906243-144906243 C>A 0.0 4129 NSCLC - - ID=COSM1682942;OCCURENCE=1(lung) - SLITRK2 ENST00000434188,p.P767H|NM_001144008,p.P767H|ENST00000447897,p.P767H|uc011mwr.2,p.P767H|ENST00000413937,p.P767H|uc011mwq.2,p.P767H|NM_001144004,p.P767H|uc022cfn.1,p.P767H|NM_001144006,p.P767H|NM_032539,p.P767H|uc010nso.3,p.P767H|uc011mws.2,p.P767H|NM_001144003,p.P767H|uc011mwt.2,p.P767H|uc004fcd.3,p.P767H|uc010nsp.3,p.P767H|ENST00000370490,p.P767H|uc004fcg.3,p.P767H|NM_001144005,p.P767H|NM_001144010,p.P767H|ENST00000428560,p.P767H|NM_001144009,p.P767H protein_coding uc022cfn.1 nonsynonymous SNV exon1 c.C2300A p.P767H LYQNIAERVKELPSAGLVHYNFCTL LYQNIAERVKELHSAGLVHYNFCTL 1.0 6.0 - - 4129_X:144906243-144906243 C>A_LYQNIAERVKELHSAGLVHYNFCTL 0.0 19:58145198-58145198 G>C 0.0 4186 BREAST - - - - ZNF211 uc010yhc.1,p.L4F|uc002qpt.2,p.L4F|uc002qpr.2,p.L4F|ENST00000544273,p.L4F retained_intron, protein_coding, nonsense_mediated_decay uc010yhc.1 nonsynonymous SNV exon2 c.G12C p.L4F MRTLRQREVEYFSKAT MRTFRQREVEYFSKAT 4.0 3.0 - - 4186_19:58145198-58145198 G>C_MRTFRQREVEYFSKAT 0.0 20:60963365-60963365 G>A 1.0 3713 MELANOMA - - - - RPS21 ENST00000450116,p.G63S|uc002ycs.3,p.G63S|ENST00000343986,p.G63S|uc002ycr.3,p.G63S|NM_001024,p.G63S protein_coding, processed_transcript uc002ycs.3 nonsynonymous SNV exon5 c.G187A p.G63S KTYAICGAIRRMGESDDSILRLAKA KTYAICGAIRRMSESDDSILRLAKA 9.0 7.0 - - 3713_20:60963365-60963365 G>A_KTYAICGAIRRMSESDDSILRLAKA 0.0 20:61981115-61981115 T>G 0.0 4281 COLORECTAL - - - - CHRNA4 uc002yes.3,p.S550R|NM_001256573,p.S374R|uc002yet.2,p.S374R|ENST00000370263,p.S550R|NM_000744,p.S550R|uc010gke.1,p.S479R|uc010gkf.2,p.S374R|uc002yev.2,p.S374R protein_coding, processed_transcript, nonsense_mediated_decay uc010gkf.2 nonsynonymous SNV exon5 c.A1120C p.S374R SSVSPSATVKTRSTKAPPPHLPLSP SSVSPSATVKTRRTKAPPPHLPLSP 4.0 4.0 - - 4281_20:61981115-61981115 T>G_SSVSPSATVKTRRTKAPPPHLPLSP 0.0 9:119770381-119770381 G>T 0.0 4316 COLORECTAL - - - - ASTN2 NM_014010,p.D476E|uc022bml.1,p.D176E|ENST00000373996,p.D527E|ENST00000361209,p.D476E|uc022bmm.1,p.D176E|ENST00000313400,p.D527E|uc004bjt.2,p.D476E|ENST00000373986,p.D254E protein_coding uc022bmm.1 nonsynonymous SNV exon5 c.C528A p.D176E GQRTTDACEQLCDPETGECSCHEGY GQRTTDACEQLCEPETGECSCHEGY 5.0 4.0 - - 4316_9:119770381-119770381 G>T_GQRTTDACEQLCEPETGECSCHEGY 0.0 7:140453136-140453136 A>T 1.0 3784 MELANOMA - - ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system) 1 BRAF ENST00000479537,p.V28E|uc003vwc.4,p.V600E|NM_004333,p.V600E|ENST00000288602,p.V600E retained_intron, protein_coding, nonsense_mediated_decay uc003vwc.4 nonsynonymous SNV exon15 c.T1799A p.V600E LTVKIGDFGLATVKSRWSGSHQFEQ LTVKIGDFGLATEKSRWSGSHQFEQ 8.0 9.0 - - 3784_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ 0.0 11:5798902-5798902 C>A 0.0 4316 COLORECTAL - - - - OR52N5 NM_001001922,p.K321N|uc010qzn.2,p.K321N|ENST00000317093,p.K321N protein_coding uc010qzn.2 nonsynonymous SNV exon1 c.G963T p.K321N IRKSVIKFFQGDKGAG IRKSVIKFFQGDNGAG 1.0 9.0 - - 4316_11:5798902-5798902 C>A_IRKSVIKFFQGDNGAG 0.0 1:222904854-222904854 A>G 0.0 4081 COLORECTAL - - - - BROX uc010put.1,p.D350G|NM_144695,p.D382G|uc001hnq.1,p.D382G|ENST00000340934,p.D382G|NM_001288579,p.D350G|ENST00000539697,p.D350G|NM_001288580,p.D350G|uc010puv.1,p.D350G protein_coding, processed_transcript uc010puv.1 nonsynonymous SNV exon11 c.A1049G p.D350G LAAFDLTKRPKDDSTKPKPEEEVKP LAAFDLTKRPKDGSTKPKPEEEVKP 6.0 3.0 - - 4081_1:222904854-222904854 A>G_LAAFDLTKRPKDGSTKPKPEEEVKP 0.0 X:125299561-125299561 T>C 0.0 4160 COLORECTAL - - - 2 DCAF12L2 NM_001013628,p.K116R|ENST00000538699,p.K116R|ENST00000360028,p.K116R|uc004euk.2,p.K116R protein_coding uc004euk.2 nonsynonymous SNV exon1 c.A347G p.K116R QWLNARQVVCGTKCNTLFVVDVQSG QWLNARQVVCGTRCNTLFVVDVQSG 1.0 4.0 - - 4160_X:125299561-125299561 T>C_QWLNARQVVCGTRCNTLFVVDVQSG 0.0 3:43618636-43618636 C>A 1.0 3919 MELANOMA - - - - ANO10 ENST00000428472,p.W126L|uc003cmw.3,p.W171L|ENST00000451430,p.W126L|ENST00000414522,p.W237L|NM_001204831,p.W237L|uc011azs.2,p.W237L|uc011azt.2,p.W126L|ENST00000292246,p.W237L|NM_018075,p.W237L|NM_001204832,p.W171L|NM_001204833,p.W126L|ENST00000396091,p.W171L|uc003cmv.3,p.W237L protein_coding, processed_transcript uc011azt.2 nonsynonymous SNV exon4 c.G377T p.W126L MAVIGLPYYLFVWEDYDKYVIFASF MAVIGLPYYLFVLEDYDKYVIFASF 8.0 2.0 - - 3919_3:43618636-43618636 C>A_MAVIGLPYYLFVLEDYDKYVIFASF 0.0 5:41381956-41381956 T>A 0.0 4278 COLORECTAL - - - - PLCXD3 ENST00000328457,p.S262C|NM_001005473,p.S262C|uc003jmm.1,p.S262C|ENST00000377801,p.S262C protein_coding uc003jmm.1 nonsynonymous SNV exon2 c.A784T p.S262C TPKASTVVKGVASGLRETITERALP TPKASTVVKGVACGLRETITERALP 3.0 5.0 - - 4278_5:41381956-41381956 T>A_TPKASTVVKGVACGLRETITERALP 0.0 2:85866435-85866435 A>G 1.0 4335 COLORECTAL - - - - USP39 uc010fgn.2,p.K402R|uc010fgo.4,p.K402R|NM_001256727,p.K324R|ENST00000409470,p.K402R|ENST00000323701,p.K402R|uc002sqb.4,p.K133R|ENST00000409025,p.K402R|NM_006590,p.K402R|ENST00000409766,p.K402R|NM_001256726,p.K402R|NM_001256728,p.K299R|NM_001256725,p.K402R|uc010ysu.3,p.K324R|ENST00000450066,p.K299R|uc010ysv.3,p.K299R|uc002sqe.4,p.K402R|uc002sqg.4,p.K402R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ysv.3 nonsynonymous SNV exon8 c.A896G p.K299R YLTLDLPTAPLYKDEKEQLIIPQVP YLTLDLPTAPLYRDEKEQLIIPQVP 9.0 6.0 - - 4335_2:85866435-85866435 A>G_YLTLDLPTAPLYRDEKEQLIIPQVP 0.0 20:30522508-30522508 C>T 0.0 4235 COLORECTAL - - - - TTLL9 ENST00000375934,p.R242C protein_coding ENST00000375934 nonsynonymous SNV exon10 c.C724T p.R242C LPTTTQRRAASGRCSASGSTWRPNT LPTTTQRRAASGCCSASGSTWRPNT 3.0 3.0 - - 4235_20:30522508-30522508 C>T_LPTTTQRRAASGCCSASGSTWRPNT 0.0 15:89399986-89399986 C>G 0.0 4316 COLORECTAL - - - - ACAN NM_013227,p.D1390E|ENST00000561243,p.D1390E|ENST00000352105,p.D1390E|uc010upp.1,p.D1390E|NM_001135,p.D1390E|ENST00000439576,p.D1390E|ENST00000559004,p.D1390E|uc010upo.1,p.D1390E retained_intron, protein_coding uc010upp.1 nonsynonymous SNV exon12 c.C4170G p.D1390E GEVLETAAPGVEDISGLPSGEVLET GEVLETAAPGVEEISGLPSGEVLET 3.0 1.0 - - 4316_15:89399986-89399986 C>G_GEVLETAAPGVEEISGLPSGEVLET 0.0 7:138872273-138872273 G>A 1.0 4110 BILE DUCT - - - - TTC26 ENST00000495038,p.G383E|uc011kqp.1,p.G409E|ENST00000343187,p.G483E|uc011kqo.1,p.G483E|NM_001287512,p.G383E|NM_001144923,p.G483E|uc011kqq.1,p.G383E|ENST00000464848,p.G514E|NM_001287513,p.G409E|NM_024926,p.G514E|ENST00000478836,p.G407E|uc003vut.2,p.G374E|uc003vus.2,p.G514E protein_coding, processed_transcript, nonsense_mediated_decay uc011kqq.1 nonsynonymous SNV exon14 c.G1148A p.G383E GACVGIFQMIIAGREPKETLREVLH GACVGIFQMIIAEREPKETLREVLH 6.0 8.0 - - 4110_7:138872273-138872273 G>A_GACVGIFQMIIAEREPKETLREVLH 0.0 22:23653975-23653975 ->CCGG 0.0 4266 COLORECTAL - - - 1 BCR uc011aiy.2,p.S681fs|ENST00000305877,p.S1092fs|NM_004327,p.S1092fs|NM_021574,p.S1048fs|uc002zww.3,p.S1092fs|uc002zwx.3,p.S1048fs|ENST00000359540,p.S1048fs retained_intron, protein_coding, processed_transcript uc011aiy.2 frameshift insertion exon19 c.2041_2042insCCGG p.S681fs RRGMEEVGIYRVSGVATDIQALKAA RRGMEEVGIYRVSGRCGHGHPGTEGSLRRQ 10.0 8.0 - - 4266_22:23653975-23653975 ->CCGG_RRGMEEVGIYRVSGRCGHGHPGTEGSLRRQ 0.0 4:115544420-115544420 G>T 1.0 4095 COLORECTAL - - - - UGT8 NM_001128174,p.K128N|NM_003360,p.K128N|uc003ibt.2,p.K128N|uc003ibs.2,p.K128N|ENST00000507710,p.K128N|ENST00000394511,p.K128N|ENST00000310836,p.K128N protein_coding uc003ibt.2 nonsynonymous SNV exon1 c.G384T p.K128N LMVGNHALIQGLKKEKFDLLLVDPN LMVGNHALIQGLNKEKFDLLLVDPN 8.0 8.0 - - 4095_4:115544420-115544420 G>T_LMVGNHALIQGLNKEKFDLLLVDPN 0.0 6:149699784-149699784 C>G 1.0 4298 COLORECTAL - - - - TAB2 NM_001292034,p.Q245E|uc010kia.1,p.Q245E|uc010kib.2,p.Q245E|ENST00000392282,p.Q245E|ENST00000470466,p.Q245E|uc003qmj.3,p.Q245E|ENST00000538427,p.Q245E|uc011eec.2,p.Q213E|ENST00000367456,p.Q245E|ENST00000536230,p.Q213E|ENST00000286332,p.Q245E|NM_001292035,p.Q213E|NM_015093,p.Q245E protein_coding, processed_transcript, nonsense_mediated_decay uc011eec.2 nonsynonymous SNV exon2 c.C637G p.Q213E SGWVSQFNPMNPQQVYQPSQPGPWT SGWVSQFNPMNPEQVYQPSQPGPWT 10.0 1.0 - - 4298_6:149699784-149699784 C>G_SGWVSQFNPMNPEQVYQPSQPGPWT 0.0 6:44392244-44392244 C>T 1.0 3713 MELANOMA - - - - CDC5L NM_001253,p.A498V|uc003oxl.3,p.A498V|ENST00000371477,p.A498V protein_coding uc003oxl.3 nonsynonymous SNV exon11 c.C1493T p.A498V PKNDFEIVLPENAEKELEEREIDDT PKNDFEIVLPENVEKELEEREIDDT 6.0 3.0 - - 3713_6:44392244-44392244 C>T_PKNDFEIVLPENVEKELEEREIDDT 0.0 3:85961679-85961679 T>G 0.0 4160 COLORECTAL - - - - CADM2 uc003dql.3,p.V222G|NM_001256503,p.V112G|NM_153184,p.V222G|uc003dqk.3,p.V229G|NM_001167675,p.V229G|NM_001256502,p.V112G|ENST00000405615,p.V222G|NM_001256505,p.V112G|NM_001167674,p.V220G|NM_001256504,p.V112G|uc021xay.1,p.V112G|uc021xba.1,p.V112G|uc003dqm.2,p.V112G|uc003dqj.3,p.V220G|uc021xaz.1,p.V112G|ENST00000407528,p.V220G|ENST00000383699,p.V229G protein_coding, processed_transcript uc021xba.1 nonsynonymous SNV exon5 c.T335G p.V112G ESLNATPQVAMQVLEIHYTPSVKII ESLNATPQVAMQGLEIHYTPSVKII 1.0 6.0 - - 4160_3:85961679-85961679 T>G_ESLNATPQVAMQGLEIHYTPSVKII 0.0 10:61834218-61834218 G>A 0.0 3903 MELANOMA - - - - ANK3 uc001jky.3,p.P2141S|NM_020987,p.P2141S|ENST00000280772,p.P2141S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001jky.3 nonsynonymous SNV exon37 c.C6421T p.P2141S GFETRSEKTPSAPQSAESTGPKPLF GFETRSEKTPSASQSAESTGPKPLF 4.0 9.0 - - 3903_10:61834218-61834218 G>A_GFETRSEKTPSASQSAESTGPKPLF 0.0 11:55703216-55703216 A>G 0.0 4278 COLORECTAL - - - - OR5I1 uc010ris.2,p.F221L|NM_006637,p.F221L|ENST00000301532,p.F221L protein_coding uc010ris.2 nonsynonymous SNV exon1 c.T661C p.F221L EIICFIIIIISYFFILLSVLKIRSF EIICFIIIIISYLFILLSVLKIRSF 1.0 4.0 - - 4278_11:55703216-55703216 A>G_EIICFIIIIISYLFILLSVLKIRSF 0.0 4:187003936-187003936 G>A 1.0 2556 MELANOMA - - - - TLR3 uc011ckz.2,p.D89N|ENST00000296795,p.D366N|NM_003265,p.D366N|uc003iyq.3,p.D366N|ENST00000504367,p.D89N|ENST00000513189,p.D302N|uc003iyr.3,p.D89N retained_intron, protein_coding, processed_transcript uc011ckz.2 nonsynonymous SNV exon2 c.G265A p.D89N LKCLEHLNMEDNDIPGIKSNMFTGL LKCLEHLNMEDNNIPGIKSNMFTGL 6.0 8.0 - - 2556_4:187003936-187003936 G>A_LKCLEHLNMEDNNIPGIKSNMFTGL 0.0 19:53668520-53668520 A>C 0.0 4186 BREAST - - - - ZNF665 ENST00000396424,p.V408G|ENST00000600412,p.V343G|uc010eqm.1,p.V408G|NM_024733,p.V408G protein_coding, processed_transcript uc010eqm.1 nonsynonymous SNV exon4 c.T1223G p.V408G HTGEKPFKCNECVKVFTQYSHLANH HTGEKPFKCNECGKVFTQYSHLANH 6.0 4.0 - - 4186_19:53668520-53668520 A>C_HTGEKPFKCNECGKVFTQYSHLANH 0.0 11:133778972-133778972 A>C 0.0 4278 COLORECTAL - - - - IGSF9B ENST00000533871,p.L1436V|uc031qfh.1,p.L1436V|NM_001277285,p.L1436V protein_coding uc031qfh.1 nonsynonymous SNV exon20 c.T4306G p.L1436V NSVDHDDPGHATLL NSVDHDDPGHATVL 4.0 8.0 - - 4278_11:133778972-133778972 A>C_NSVDHDDPGHATVL 0.0 12:11243903-11243903 G>A 1.0 4252 COLORECTAL - - - - TAS2R43 NM_176884,p.P309L|ENST00000531678,p.P309L|uc001qzq.1,p.P309L protein_coding uc001qzq.1 nonsynonymous SNV exon1 c.C926T p.P309L MRYWVKGEKTSSP MRYWVKGEKTSSL 3.0 10.0 - - 4252_12:11243903-11243903 G>A_MRYWVKGEKTSSL 0.0 19:7509248-7509248 G>C 1.0 4000 MELANOMA - - - - ARHGEF18 uc010xjm.1,p.A161P|ENST00000359920,p.A319P|NM_001130955,p.A319P|uc002mgh.3,p.A161P|ENST00000319670,p.A161P|NM_015318,p.A161P|uc002mgi.3,p.A319P retained_intron, protein_coding uc010xjm.1 nonsynonymous SNV exon6 c.G481C p.A161P ADDLLETHSHFLARLKERRQESLEE ADDLLETHSHFLPRLKERRQESLEE 8.0 3.0 - - 4000_19:7509248-7509248 G>C_ADDLLETHSHFLPRLKERRQESLEE 0.0 4:102776338-102776338 C>T 0.0 3903 MELANOMA - - - - BANK1 ENST00000508653,p.P73S|uc010ill.3,p.P73S|NM_017935,p.P206S|NM_001127507,p.P73S|uc003hvy.4,p.P206S|uc003hvz.4,p.P176S|uc003hvx.4,p.P191S|NM_001083907,p.P176S|ENST00000444316,p.P176S|ENST00000504592,p.P191S|ENST00000428908,p.P73S|ENST00000322953,p.P206S retained_intron, protein_coding, processed_transcript uc010ill.3 nonsynonymous SNV exon2 c.C217T p.P73S TIPLAVVLPTEIPCENPGEIFIILR TIPLAVVLPTEISCENPGEIFIILR 3.0 5.0 - - 3903_4:102776338-102776338 C>T_TIPLAVVLPTEISCENPGEIFIILR 0.0 19:46389013-46389013 G>A 1.0 3784 MELANOMA - - - - IRF2BP1 ENST00000302165,p.S7F|NM_015649,p.S7F|uc002pds.1,p.S7F protein_coding uc002pds.1 nonsynonymous SNV exon1 c.C20T p.S7F MASVQASRRQWCYLCDLPK MASVQAFRRQWCYLCDLPK 5.0 5.0 - - 3784_19:46389013-46389013 G>A_MASVQAFRRQWCYLCDLPK 0.0 2:155099240-155099240 G>T 1.0 4126 NSCLC - - - - GALNT13 uc002tyr.4,p.V170L|uc002tyt.4,p.V170L|NM_001301627,p.V170L|ENST00000409237,p.V170L|ENST00000392825,p.V170L|NM_052917,p.V170L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002tyt.4 nonsynonymous SNV exon4 c.G508T p.V170L ERDFLKLTLENYVKNLEVPVKIIRM ERDFLKLTLENYLKNLEVPVKIIRM 4.0 10.0 - - 4126_2:155099240-155099240 G>T_ERDFLKLTLENYLKNLEVPVKIIRM 0.0 12:25398285-25398285 C>A 1.0 4259 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 ENST00000556131,p.G12C|ENST00000557334,p.G12C|ENST00000256078,p.G12C|ENST00000311936,p.G12C|uc001rgp.1,p.G12C|NM_033360,p.G12C|uc001rgq.1,p.G12C|NM_004985,p.G12C protein_coding uc001rgq.1 nonsynonymous SNV exon2 c.G34T p.G12C MTEYKLVVVGAGGVGKSALTIQLI MTEYKLVVVGACGVGKSALTIQLI 8.0 10.0 - - 4259_12:25398285-25398285 C>A_MTEYKLVVVGACGVGKSALTIQLI 0.0 11:8736180-8736180 C>A 1.0 4160 COLORECTAL - - - - ST5 ENST00000526757,p.S220I|NM_139157,p.S220I|NM_005418,p.S640I|ENST00000357665,p.S640I|ENST00000532734,p.S250I|ENST00000313726,p.S640I|uc001mgu.3,p.S220I|ENST00000530991,p.S112I|ENST00000526099,p.S153I|uc001mgt.3,p.S640I|uc009yfr.3,p.S220I|NM_213618,p.S640I|ENST00000534127,p.S640I|ENST00000528527,p.S112I|uc010rbp.2,p.S153I|ENST00000530438,p.S220I|ENST00000533020,p.S112I|uc001mgv.3,p.S640I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010rbp.2 nonsynonymous SNV exon4 c.G458T p.S153I RGKKRLKKLSMSSIETASLRDENSE RGKKRLKKLSMSIIETASLRDENSE 8.0 4.0 - - 4160_11:8736180-8736180 C>A_RGKKRLKKLSMSIIETASLRDENSE 0.0 6:31322977-31322977 G>A 1.0 4000 MELANOMA - - - - HLA-B uc003nth.2,p.P307S|NM_005514,p.P307S|ENST00000412585,p.P307S|uc003ntg.1,p.P186S retained_intron, protein_coding, nonsense_mediated_decay uc003nth.2 nonsynonymous SNV exon5 c.C919T p.P307S TLRWEPSSQSTVPIVGIVAGLAVLA TLRWEPSSQSTVSIVGIVAGLAVLA 10.0 1.0 - - 4000_6:31322977-31322977 G>A_TLRWEPSSQSTVSIVGIVAGLAVLA 0.0 17:76510917-76510917 C>T 1.0 4326 BREAST - - - - DNAH17 NM_173628,p.S1351N|uc010dhp.2,p.S1351N|ENST00000585328,p.S1348N|ENST00000389840,p.S1347N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010dhp.2 nonsynonymous SNV exon26 c.G4052A p.S1351N TVKNVITSLRAVSELQNPAIRERHW TVKNVITSLRAVNELQNPAIRERHW 4.0 3.0 - - 4326_17:76510917-76510917 C>T_TVKNVITSLRAVNELQNPAIRERHW 0.0 16:69711127-69711127 C>A 1.0 3879 MELANOMA - - - - NFAT5 ENST00000393742,p.P433T|ENST00000349945,p.P433T|uc002exj.2,p.P433T|uc002exk.2,p.P433T|NM_138714,p.P433T|ENST00000567239,p.P527T|uc002exm.2,p.P509T|ENST00000566899,p.P433T|uc002exn.2,p.P527T|ENST00000354436,p.P509T|NM_173214,p.P433T|ENST00000432919,p.P527T|NM_006599,p.P509T|uc002exh.2,p.P303T|NM_001113178,p.P527T|NM_138713,p.P527T|NM_173215,p.P433T|uc002exi.3,p.P433T|uc002exl.2,p.P527T retained_intron, protein_coding, nonsense_mediated_decay uc002exn.2 nonsynonymous SNV exon10 c.C1579A p.P527T ELFHQNHLIVKVPPYHDQHITLPVS ELFHQNHLIVKVTPYHDQHITLPVS 10.0 2.0 - - 3879_16:69711127-69711127 C>A_ELFHQNHLIVKVTPYHDQHITLPVS 0.0 17:73999336-73999336 C>T 1.0 4000 MELANOMA - - - - CDK3 uc010dgt.3,p.R217C|NM_001258,p.R217C|ENST00000425876,p.R217C|ENST00000586261,p.R177C|ENST00000448471,p.R217C protein_coding uc010dgt.3 nonsynonymous SNV exon7 c.C649T p.R217C GDSEIDQLFRIFRMLGTPSEDTWPG GDSEIDQLFRIFCMLGTPSEDTWPG 4.0 6.0 - - 4000_17:73999336-73999336 C>T_GDSEIDQLFRIFCMLGTPSEDTWPG 0.0 19:54871655-54871655 G>A 1.0 4244 COLORECTAL - - - - LAIR1 ENST00000444687,p.P20L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000444687 nonsynonymous SNV exon2 c.C59T p.P20L LLVKETSGGPDSPDTEPGSSAGTVP LLVKETSGGPDSLDTEPGSSAGTVP 9.0 7.0 - - 4244_19:54871655-54871655 G>A_LLVKETSGGPDSLDTEPGSSAGTVP 0.0 15:66727453-66727453 A>G 1.0 4317 COLORECTAL - - - 1 MAP2K1 NM_002755,p.K57E|uc010bhq.3,p.K57E|uc010ujp.2,p.K35E|ENST00000307102,p.K57E retained_intron, protein_coding uc010ujp.2 nonsynonymous SNV exon2 c.A103G p.K35E QQRKRLEAFLTQKQKVGELKDDDFE QQRKRLEAFLTQEQKVGELKDDDFE 8.0 8.0 - - 4317_15:66727453-66727453 A>G_QQRKRLEAFLTQEQKVGELKDDDFE 0.0 2:109522805-109522805 T>G 1.0 4320 COLORECTAL - - - - EDAR uc010fjn.3,p.K360T|NM_022336,p.K328T|uc010yws.2,p.K360T|ENST00000376651,p.K360T|uc002teq.4,p.K328T|ENST00000258443,p.K328T|ENST00000409271,p.K360T protein_coding uc010yws.2 nonsynonymous SNV exon10 c.A1079C p.K360T SNKSAGIQSRRKKILDVYANVCGVV SNKSAGIQSRRKTILDVYANVCGVV 8.0 2.0 CD8 - 4320_2:109522805-109522805 T>G_SNKSAGIQSRRKTILDVYANVCGVV 2.0 5:142693612-142693612 A>C 0.0 4081 COLORECTAL - - - - NR3C1 ENST00000503201,p.L436V|ENST00000343796,p.L436V|ENST00000424646,p.L410V|uc021yfa.1,p.L436V|ENST00000394466,p.L436V|NM_001018076,p.L436V|ENST00000504572,p.L436V|uc011dbk.2,p.L39V|uc003lnb.3,p.L436V|NM_001204261,p.L339V|uc003lmy.3,p.L436V|uc003lna.3,p.L436V|uc003lnd.3,p.L436V|NM_001204260,p.L347V|NM_001204258,p.L410V|NM_001018077,p.L436V|NM_001018074,p.L436V|NM_001024094,p.L436V|NM_001204265,p.L436V|uc021yfb.1,p.L436V|NM_001204264,p.L101V|NM_001204259,p.L351V|NM_001204262,p.L121V|ENST00000415690,p.L436V|NM_000176,p.L436V|uc031slp.1,p.L436V|uc003lmz.3,p.L101V|NM_001018075,p.L436V|ENST00000416954,p.L39V|uc003lne.3,p.L436V|NM_001020825,p.L436V|ENST00000394464,p.L436V|ENST00000231509,p.L436V|uc003lnc.3,p.L436V|uc003lnf.3,p.L436V|NM_001204263,p.L106V protein_coding, processed_transcript uc031slp.1 nonsynonymous SNV exon2 c.T1306G p.L436V CSDEASGCHYGVLTCGSCKVFFKRA CSDEASGCHYGVVTCGSCKVFFKRA 7.0 7.0 - - 4081_5:142693612-142693612 A>C_CSDEASGCHYGVVTCGSCKVFFKRA 0.0 11:108099960-108099960 A>T 1.0 4345 COLORECTAL - - - 1 ATM ENST00000527891,p.N81Y|ENST00000452508,p.N81Y|ENST00000527805,p.N81Y|NM_000051,p.N81Y|ENST00000278616,p.N81Y|uc009yxr.1,p.N81Y|ENST00000532931,p.N81Y|ENST00000601453,p.N81Y|uc001pkb.1,p.N81Y|uc001pkc.1,p.N81Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009yxr.1 nonsynonymous SNV exon5 c.A241T p.N81Y QKETECLRIAKPNVSASTQASRQKK QKETECLRIAKPYVSASTQASRQKK 10.0 6.0 - - 4345_11:108099960-108099960 A>T_QKETECLRIAKPYVSASTQASRQKK 0.0 4:54325572-54325572 C>A 0.0 4317 COLORECTAL - - - 1 FIP1L1 NM_001134937,p.P575T|NM_030917,p.P581T|ENST00000358575,p.P575T|uc003gzz.3,p.P507T|ENST00000306932,p.P507T|uc003gzy.3,p.P581T|uc003hab.3,p.P546T|ENST00000504094,p.P241T|uc011bzu.2,p.P575T|ENST00000337488,p.P581T|NM_001134938,p.P507T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bzu.2 nonsynonymous SNV exon18 c.C1723A p.P575T KRSKEGKEAGSEPAPEQESTEATPA KRSKEGKEAGSETAPEQESTEATPA 10.0 2.0 - - 4317_4:54325572-54325572 C>A_KRSKEGKEAGSETAPEQESTEATPA 0.0 2:216916245-216916245 C>G 1.0 4160 COLORECTAL - - - - PECR ENST00000442122,p.V150L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000442122 nonsynonymous SNV exon4 c.G448C p.V150L MCKAGILELQEQVFTTSPNL MCKAGILELQEQLFTTSPNL 6.0 8.0 - - 4160_2:216916245-216916245 C>G_MCKAGILELQEQLFTTSPNL 0.0 X:101971961-101971961 G>T 0.0 4196 COLORECTAL - - - - ARMCX5-GPRASP2,GPRASP2 ENST00000332262,p.G722W|uc022cbh.1,p.G722W|NM_138437,p.G722W|ENST00000543253,p.G722W|uc022cbg.1,p.G722W|uc022cay.1,p.G722W|NM_001004051,p.G722W|NM_001199818,p.G722W|NM_001184874,p.G722W|uc004ejm.3,p.G722W|NM_001184875,p.G722W|uc022cbe.1,p.G722W|ENST00000535209,p.G722W|uc022cbf.1,p.G722W|NM_001184876,p.G722W|uc004ejl.3,p.G722W|uc004ejk.3,p.G722W protein_coding, processed_transcript uc022cbh.1 nonsynonymous SNV exon1 c.G2164T p.G722W IDYHTLIANYMSGFLSLLTTANART IDYHTLIANYMSWFLSLLTTANART 6.0 7.0 - - 4196_X:101971961-101971961 G>T_IDYHTLIANYMSWFLSLLTTANART 0.0 1:92646746-92646746 C>T 1.0 3716 MELANOMA - - - - KIAA1107 ENST00000409154,p.P786L|uc001dop.3,p.P656L|uc010otd.2,p.P731L|NM_015237,p.P731L|ENST00000370378,p.P731L protein_coding uc010otd.2 nonsynonymous SNV exon8 c.C2192T p.P731L LNSAQEDKKSKVPVEGLTIPSKLSD LNSAQEDKKSKVLVEGLTIPSKLSD 4.0 9.0 - - 3716_1:92646746-92646746 C>T_LNSAQEDKKSKVLVEGLTIPSKLSD 0.0 X:68749582-68749582 A>T 0.0 4245 COLORECTAL - - - - FAM155B ENST00000252338,p.Y401F|NM_015686,p.Y401F|uc004dxk.3,p.Y401F protein_coding uc004dxk.3 nonsynonymous SNV exon3 c.A1202T p.Y401F SYFHHYHQQYHHYHPHHDPPGRVSN SYFHHYHQQYHHFHPHHDPPGRVSN 4.0 10.0 - - 4245_X:68749582-68749582 A>T_SYFHHYHQQYHHFHPHHDPPGRVSN 0.0 X:153608701-153608701 C>A 0.0 4234 NSCLC - - - - EMD ENST00000369842,p.P125T|uc004fkl.3,p.P125T|NM_000117,p.P125T|ENST00000369835,p.P90T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004fkl.3 nonsynonymous SNV exon4 c.C373A p.P125T PSRAVRQSVTSFPDADAFHHQVHDD PSRAVRQSVTSFTDADAFHHQVHDD 9.0 3.0 - - 4234_X:153608701-153608701 C>A_PSRAVRQSVTSFTDADAFHHQVHDD 0.0 11:5013194-5013194 G>A 0.0 3795 MELANOMA - - ID=COSM224389;OCCURENCE=1(skin) - MMP26 ENST00000380390,p.G199E|ENST00000300762,p.G199E|uc001lzv.3,p.G199E|NM_021801,p.G199E protein_coding, processed_transcript uc001lzv.3 nonsynonymous SNV exon5 c.G596A p.G199E FDKNEHWSASDTGYNLFLVATHEIG FDKNEHWSASDTEYNLFLVATHEIG 1.0 8.0 - - 3795_11:5013194-5013194 G>A_FDKNEHWSASDTEYNLFLVATHEIG 0.0 6:36104467-36104467 C>T 1.0 3713 MELANOMA - - - - MAPK13 ENST00000373759,p.A99V|uc003ols.4,p.A177V|NM_002754,p.A177V|ENST00000373766,p.A177V|ENST00000211287,p.A177V|ENST00000373761,p.A167V protein_coding, processed_transcript uc003ols.4 nonsynonymous SNV exon7 c.C530T p.A177V KILDFGLARHADAEMTGYVVTRWYR KILDFGLARHADVEMTGYVVTRWYR 4.0 8.0 - - 3713_6:36104467-36104467 C>T_KILDFGLARHADVEMTGYVVTRWYR 0.0 2:25359463-25359463 A>G 1.0 4213 COLORECTAL - - - - EFR3B ENST00000403714,p.K519R|ENST00000264719,p.K398R|uc010eyh.3,p.K519R|NM_014971,p.K519R|ENST00000402191,p.K484R|ENST00000401432,p.K519R|uc002rfw.2,p.K519R|ENST00000405108,p.K371R protein_coding uc010eyh.3 nonsynonymous SNV exon14 c.A1556G p.K519R VDKCSRQDTVFMKKHSQQLYRHIYL VDKCSRQDTVFMRKHSQQLYRHIYL 5.0 10.0 - - 4213_2:25359463-25359463 A>G_VDKCSRQDTVFMRKHSQQLYRHIYL 0.0 7:119915758-119915758 C>T 0.0 4158 COLORECTAL - - - - KCND2 uc003vjj.1,p.P358S|ENST00000331113,p.P358S|NM_012281,p.P358S retained_intron, protein_coding uc003vjj.1 nonsynonymous SNV exon1 c.C1072T p.P358S EKGSSASKFTSIPAAFWYTIVTMTT EKGSSASKFTSISAAFWYTIVTMTT 2.0 9.0 - - 4158_7:119915758-119915758 C>T_EKGSSASKFTSISAAFWYTIVTMTT 0.0 16:53476615-53476653 AAATCTACCCCCACATTTCAGAGAACGTACTGAGAGATT>- 0.0 4287 COLORECTAL - - - - RBL2 NM_005611,p.139_152del|ENST00000544405,p.65_78del|uc002ehi.4,p.139_152del|uc010vgv.1,p.65_78del|ENST00000262133,p.139_152del retained_intron, protein_coding, processed_transcript uc010vgv.1 nonframeshift deletion exon3 c.195_233del p.65_78del EFFNKMKKWEDMANLPPHFRERTER EFFNKMKKWEDMAERNFTVSAVIFK 9.0 6.0 - - 4287_16:53476615-53476653 AAATCTACCCCCACATTTCAGAGAACGTACTGAGAGATT>-_EFFNKMKKWEDMAERNFTVSAVIFK 0.0 1:31898664-31898664 C>G 1.0 3879 MELANOMA - - - - SERINC2 ENST00000536859,p.L176V|NM_018565,p.L176V|NM_001199037,p.L176V|uc021okm.1,p.L181V|uc001bsu.3,p.L117V|NM_178865,p.L172V|NM_001199038,p.L181V|ENST00000536384,p.L176V|ENST00000373710,p.L181V|uc001bst.3,p.L172V|ENST00000373709,p.L172V|uc010ogg.2,p.L176V|NM_001199039,p.L117V|uc010ogh.2,p.L176V protein_coding, processed_transcript uc021okm.1 nonsynonymous SNV exon6 c.C541G p.L181V FYFGVVGSFLFILIQLVLLIDFAHS FYFGVVGSFLFIVIQLVLLIDFAHS 6.0 6.0 - - 3879_1:31898664-31898664 C>G_FYFGVVGSFLFIVIQLVLLIDFAHS 0.0 5:96118858-96118858 G>A 1.0 4252 COLORECTAL - - - - ERAP1 uc003kml.3,p.R728W|uc010jbm.2,p.R540W|NM_001198541,p.R728W|uc003kmm.3,p.R728W|NM_016442,p.R728W|NM_001040458,p.R728W|uc003kmn.3,p.R728W|ENST00000443439,p.R728W|ENST00000296754,p.R728W retained_intron, protein_coding, processed_transcript uc010jbm.2 nonsynonymous SNV exon14 c.C1618T p.R540W WTDEGSVSERMLRSQLLLLACVHNY WTDEGSVSERMLWSQLLLLACVHNY 7.0 6.0 - - 4252_5:96118858-96118858 G>A_WTDEGSVSERMLWSQLLLLACVHNY 0.0 1:161275686-161275686 A>G 1.0 4284 COLORECTAL - - - - MPZ uc001gaf.4,p.S243P|ENST00000360451,p.S253P|ENST00000463290,p.S243P|ENST00000533357,p.S243P|NM_000530,p.S243P|ENST00000491222,p.S47P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001gaf.4 nonsynonymous SNV exon6 c.T727C p.S243P AVSEKKAKGLGESRKDKK AVSEKKAKGLGEPRKDKK 4.0 10.0 - - 4284_1:161275686-161275686 A>G_AVSEKKAKGLGEPRKDKK 0.0 17:42452395-42452395 C>T 0.0 4235 COLORECTAL - - - - ITGA2B NM_000419,p.A938T|uc002igt.1,p.A938T|ENST00000262407,p.A938T retained_intron, protein_coding uc002igt.1 nonsynonymous SNV exon27 c.G2812A p.A938T MARGQRAMVTVLAFLWLPSLYQRPL MARGQRAMVTVLTFLWLPSLYQRPL 3.0 3.0 - - 4235_17:42452395-42452395 C>T_MARGQRAMVTVLTFLWLPSLYQRPL 0.0 14:36785951-36785951 A>- 1.0 4326 BREAST - - - - MBIP NM_016586,p.F66fs|uc001wtm.2,p.F66fs|uc001wtn.2,p.F66fs|uc001wto.2,p.F66fs|ENST00000416007,p.F66fs|ENST00000318473,p.F66fs|ENST00000359527,p.F66fs|NM_001144891,p.F66fs|ENST00000604160,p.F24fs protein_coding, processed_transcript uc001wto.2 frameshift deletion exon2 c.197delT p.F66fs TIDWNKLQSLSAFQPALLFSALEQHI TIDWNKLQSLSASSLHCSLVHLNNTFYIYSLF 7.0 8.0 - - 4326_14:36785951-36785951 A>-_TIDWNKLQSLSASSLHCSLVHLNNTFYIYSLF 0.0 1:20964358-20964358 G>T 1.0 4213 COLORECTAL - - ID=COSM3803747;OCCURENCE=1(breast) - PINK1 uc001bdm.3,p.K137N|ENST00000321556,p.K137N|NM_032409,p.K137N protein_coding, processed_transcript uc001bdm.3 nonsynonymous SNV exon2 c.G411T p.K137N CQEIQAIFTQKSKPGPDPLDTRRLQ CQEIQAIFTQKSNPGPDPLDTRRLQ 9.0 8.0 - - 4213_1:20964358-20964358 G>T_CQEIQAIFTQKSNPGPDPLDTRRLQ 0.0 4:169300565-169300565 T>A 1.0 4301 MELANOMA - - - - DDX60L ENST00000511577,p.N1438Y|NM_001012967,p.N1438Y|ENST00000260184,p.N1438Y|uc003irq.4,p.N1438Y|uc021xuh.1,p.N1438Y retained_intron, protein_coding, processed_transcript uc021xuh.1 nonsynonymous SNV exon31 c.A4312T p.N1438Y LHGHEPSNLVFVNFLKRGLFHNLCK LHGHEPSNLVFVYFLKRGLFHNLCK 8.0 4.0 - - 4301_4:169300565-169300565 T>A_LHGHEPSNLVFVYFLKRGLFHNLCK 0.0 9:4661904-4661904 C>G 0.0 3775 CERVICAL - - - - SPATA6L ENST00000486047,p.E58Q|ENST00000454239,p.E58Q|ENST00000485616,p.E58Q|ENST00000406861,p.E58Q|ENST00000381890,p.E58Q|uc003zim.3,p.E58Q|ENST00000461761,p.E58Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003zim.3 nonsynonymous SNV exon2 c.G172C p.E58Q AFPIMIQESMRFEKVFESAVDPGAV AFPIMIQESMRFQKVFESAVDPGAV 4.0 10.0 - - 3775_9:4661904-4661904 C>G_AFPIMIQESMRFQKVFESAVDPGAV 0.0 X:10174416-10174416 G>T 0.0 4081 COLORECTAL - - - - CLCN4 uc011mid.3,p.G98C|NM_001256944,p.G98C|uc004csy.4,p.G192C|ENST00000380829,p.G192C|ENST00000380833,p.G192C|NM_001830,p.G192C|ENST00000421085,p.G98C protein_coding uc011mid.3 nonsynonymous SNV exon5 c.G292T p.G98C GSGIPEIKTILSGFIIRGYLGKWTL GSGIPEIKTILSCFIIRGYLGKWTL 3.0 6.0 - - 4081_X:10174416-10174416 G>T_GSGIPEIKTILSCFIIRGYLGKWTL 0.0 13:25276086-25276086 C>T 0.0 4046 OVARIAN - - - - ATP12A NM_001676,p.T632I|NM_001185085,p.T638I|uc001upp.3,p.T632I|ENST00000218548,p.T638I|ENST00000381946,p.T632I|uc010aaa.3,p.T638I protein_coding uc010aaa.3 nonsynonymous SNV exon14 c.C1913T p.T638I KCRSAGIKVIMVTGDHPITAKAIAK KCRSAGIKVIMVIGDHPITAKAIAK 3.0 2.0 - - 4046_13:25276086-25276086 C>T_KCRSAGIKVIMVIGDHPITAKAIAK 0.0 7:22197478-22197478 T>G 0.0 4317 COLORECTAL - - - - RAPGEF5 ENST00000458533,p.K103Q|ENST00000401957,p.K215Q|ENST00000344041,p.K365Q|uc011jyl.1,p.K46Q|NM_012294,p.K365Q|uc003svg.3,p.K365Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011jyl.1 nonsynonymous SNV exon3 c.A136C p.K46Q HRRHTVDEYSPQKKNKALFHQFSLK HRRHTVDEYSPQQKNKALFHQFSLK 9.0 4.0 - - 4317_7:22197478-22197478 T>G_HRRHTVDEYSPQQKNKALFHQFSLK 0.0 19:19744922-19744922 G>A 1.0 2556 MELANOMA 0.0005 - - - GMIP uc010xrb.2,p.P695L|NM_016573,p.P721L|NM_001288998,p.P692L|ENST00000445806,p.P692L|NM_001288999,p.P695L|ENST00000587238,p.P695L|ENST00000203556,p.P721L|uc010xrc.2,p.P692L|uc002nnd.3,p.P721L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010xrc.2 nonsynonymous SNV exon18 c.C2075T p.P692L NLGIVFGPTLLRPPDGPRAASAIPV NLGIVFGPTLLRLPDGPRAASAIPV 5.0 9.0 - - 2556_19:19744922-19744922 G>A_NLGIVFGPTLLRLPDGPRAASAIPV 0.0 2:179431418-179431418 C>G 0.0 3775 CERVICAL - - - - TTN uc021vsy.2,p.A23913P|ENST00000342175,p.A17608P|NM_133437,p.A17608P|ENST00000460472,p.A17416P|uc021vsz.2,p.A17608P|uc021vta.2,p.A17541P|NM_001267550,p.A26481P|ENST00000591111,p.A24840P|uc031rqd.1,p.A24840P|NM_003319,p.A17416P|uc021vtb.2,p.A17416P|uc031rqc.1,p.A26481P|NM_133432,p.A17541P|NM_001256850,p.A24840P|ENST00000589042,p.A26481P|NM_133378,p.A23913P|ENST00000359218,p.A17541P|ENST00000342992,p.A23913P retained_intron, protein_coding uc031rqd.1 nonsynonymous SNV exon276 c.G74518C p.A24840P VGEPSPATVYYKACDPVFKPGPPTN VGEPSPATVYYKPCDPVFKPGPPTN 2.0 7.0 - - 3775_2:179431418-179431418 C>G_VGEPSPATVYYKPCDPVFKPGPPTN 0.0 1:247492561-247492561 G>A 1.0 3466 MELANOMA - - - - ZNF496 uc001ico.3,p.P107L|ENST00000294753,p.P107L|NM_032752,p.P107L|uc009xgv.3,p.P107L|uc010pyv.1,p.P107L|ENST00000366498,p.P107L protein_coding, processed_transcript uc010pyv.1 nonsynonymous SNV exon1 c.C320T p.P107L PREIQSWVRAQEPESGEQAVAAVEA PREIQSWVRAQELESGEQAVAAVEA 7.0 1.0 - - 3466_1:247492561-247492561 G>A_PREIQSWVRAQELESGEQAVAAVEA 0.0 5:23522968-23522968 G>A 1.0 4196 COLORECTAL - - - - PRDM9 ENST00000296682,p.A286T|NM_020227,p.A286T|uc003jgo.3,p.A286T protein_coding uc003jgo.3 nonsynonymous SNV exon8 c.G856A p.A286T GPYEGRITEDEEAANNGYSWLITKG GPYEGRITEDEETANNGYSWLITKG 5.0 7.0 - - 4196_5:23522968-23522968 G>A_GPYEGRITEDEETANNGYSWLITKG 0.0 14:24586497-24586497 G>A 1.0 3775 CERVICAL - - - - DCAF11 ENST00000560459,p.G84E|ENST00000558914,p.G84E|ENST00000396936,p.G24E|uc001wlz.3,p.G24E|uc001wmc.3,p.G24E|ENST00000560901,p.G84E|ENST00000559288,p.G84E|ENST00000559382,p.G84E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001wmc.3 nonsynonymous SNV exon3 c.G71A p.G24E DTTHLWMLPLTPGSWNSMRSRHKWN DTTHLWMLPLTPESWNSMRSRHKWN 9.0 8.0 - - 3775_14:24586497-24586497 G>A_DTTHLWMLPLTPESWNSMRSRHKWN 0.0 1:11288763-11288763 G>A 1.0 3713 MELANOMA - - - 1 MTOR uc001asd.3,p.L998F|NM_004958,p.L998F|ENST00000361445,p.L998F protein_coding, processed_transcript uc001asd.3 nonsynonymous SNV exon19 c.C2992T p.L998F CVQFLPQVMPTFLNVIRVCDGAIRE CVQFLPQVMPTFFNVIRVCDGAIRE 8.0 8.0 - - 3713_1:11288763-11288763 G>A_CVQFLPQVMPTFFNVIRVCDGAIRE 0.0 1:156779091-156779091 G>T 0.0 4346 COLORECTAL - - - - SH2D2A uc001fqd.2,p.S302R|ENST00000368199,p.S302R|ENST00000392306,p.S312R|uc001fqe.2,p.S284R|uc001fqc.1,p.S274R|ENST00000368198,p.S284R|NM_001161441,p.S312R|NM_001161442,p.S284R|NM_001161443,p.S274R|NM_003975,p.S302R|uc009wsh.2,p.S312R|NM_001161444,p.S302R|uc010phs.1,p.S302R protein_coding, processed_transcript uc010phs.1 nonsynonymous SNV exon7 c.C906A p.S302R YAMGRGSPGEAPSNIYVEVEDEGLP YAMGRGSPGEAPRNIYVEVEDEGLP 3.0 5.0 - - 4346_1:156779091-156779091 G>T_YAMGRGSPGEAPRNIYVEVEDEGLP 0.0 12:13237915-13237915 G>A 0.0 4275 COLORECTAL - - - - GSG1 NM_153823,p.R301W|NM_001206842,p.R314W|ENST00000324458,p.R337W|uc001rbn.3,p.R337W|uc001rbj.3,p.R301W|NM_001206843,p.R273W|ENST00000457134,p.R250W|uc001rbl.3,p.R273W|uc001rbm.3,p.R250W|ENST00000337630,p.R301W|ENST00000537302,p.R273W|ENST00000432710,p.R314W|NM_001080555,p.R337W|uc001rbp.3,p.R314W|ENST00000396310,p.R270W|NM_001206845,p.R250W protein_coding uc001rbp.3 nonsynonymous SNV exon6 c.C940T p.R314W SVSEGVDFYSELRNKGFQRGASQEL SVSEGVDFYSELWNKGFQRGASQEL 1.0 6.0 - - 4275_12:13237915-13237915 G>A_SVSEGVDFYSELWNKGFQRGASQEL 0.0 22:50727561-50727561 T>A 1.0 4345 COLORECTAL - - - - PLXNB2 ENST00000411680,p.K19M|uc003bkv.4,p.K360M|ENST00000432455,p.K360M|ENST00000449103,p.K360M|NM_012401,p.K360M|ENST00000359337,p.K360M retained_intron, protein_coding, processed_transcript uc003bkv.4 nonsynonymous SNV exon4 c.A1079T p.K360M DIQCGGHAPGSSKSFPCGSEHLPYP DIQCGGHAPGSSMSFPCGSEHLPYP 10.0 4.0 - - 4345_22:50727561-50727561 T>A_DIQCGGHAPGSSMSFPCGSEHLPYP 0.0 11:65061637-65061637 C>T 1.0 2591 MELANOMA - - - - POLA2 uc001odj.3,p.L420F|NM_002689,p.L420F|ENST00000265465,p.L420F|uc010rod.1,p.L212F|uc001odk.3,p.L117F|ENST00000541089,p.L212F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010rod.1 nonsynonymous SNV exon13 c.C634T p.L212F TIIEGTRSSGSHLVFVPSLRDVHHE TIIEGTRSSGSHFVFVPSLRDVHHE 9.0 6.0 CD8 - 2591_11:65061637-65061637 C>T_TIIEGTRSSGSHFVFVPSLRDVHHE 1.0 13:20716385-20716385 G>A 0.0 4316 COLORECTAL - - - - GJA3 NM_021954,p.T348M|uc021rgz.1,p.T348M|ENST00000241125,p.T348M|uc001umx.1,p.T348M protein_coding uc021rgz.1 nonsynonymous SNV exon1 c.C1043T p.T348M QPPALKAYPAASTPAAPSPVGSSSP QPPALKAYPAASMPAAPSPVGSSSP 2.0 7.0 - - 4316_13:20716385-20716385 G>A_QPPALKAYPAASMPAAPSPVGSSSP 0.0 3:141671480-141671480 C>T 1.0 3716 MELANOMA - - - - TFDP2 ENST00000397991,p.A378T|ENST00000499676,p.A346T|ENST00000317104,p.A330T|uc003euk.4,p.A378T|uc011bnf.2,p.A309T|ENST00000467072,p.A346T|uc011bng.2,p.A270T|NM_001178141,p.A309T|NM_001178140,p.A378T|ENST00000495310,p.A309T|uc003eun.4,p.A406T|NM_001178139,p.A406T|ENST00000489671,p.A406T|NM_006286,p.A346T|ENST00000477292,p.A270T|ENST00000479040,p.A345T|NM_001178138,p.A346T|uc003eum.4,p.A346T|uc003eul.4,p.A346T|ENST00000310282,p.A346T|NM_001178142,p.A270T|ENST00000486111,p.A346T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bng.2 nonsynonymous SNV exon8 c.G808A p.A270T DAEVALATGQFLAPNSHQSSSAASH DAEVALATGQFLTPNSHQSSSAASH 6.0 6.0 CD8 - 3716_3:141671480-141671480 C>T_DAEVALATGQFLTPNSHQSSSAASH 1.0 22:42189882-42189882 T>A 0.0 4345 COLORECTAL - - - - MEI1 ENST00000400107,p.L465H|NM_152513,p.L1132H|uc010gym.1,p.L465H|uc003bbb.1,p.L518H|ENST00000403492,p.L140H|ENST00000401548,p.L1132H|uc003baz.1,p.L1132H|uc003bbc.1,p.L500H|ENST00000300398,p.L140H|uc003bbd.1,p.L375H|uc003bbg.2,p.L146H retained_intron, protein_coding, processed_transcript uc010gym.1 nonsynonymous SNV exon11 c.T1394A p.L465H LSQACVGCLEALLDYLDARSPDIAL LSQACVGCLEALHDYLDARSPDIAL 4.0 2.0 - - 4345_22:42189882-42189882 T>A_LSQACVGCLEALHDYLDARSPDIAL 0.0 17:9837503-9837503 G>A 1.0 2098 MELANOMA - - - 1 GAS7 uc002gmh.1,p.H149Y|uc010vvd.1,p.H241Y|NM_201432,p.H229Y|uc002gmj.1,p.H229Y|ENST00000437099,p.H225Y|ENST00000323816,p.H225Y|uc010coh.1,p.H229Y|ENST00000580865,p.H149Y|ENST00000580811,p.H133Y|uc010vvc.1,p.H103Y|ENST00000396115,p.H229Y|ENST00000542249,p.H234Y|NM_003644,p.H149Y|uc002gmg.1,p.H289Y|ENST00000585266,p.H225Y|NM_001130831,p.H225Y|ENST00000432992,p.H289Y|NM_201433,p.H289Y|ENST00000581871,p.H103Y|uc002gmi.2,p.H225Y|ENST00000579158,p.H241Y retained_intron, protein_coding, processed_transcript uc010vvd.1 nonsynonymous SNV exon8 c.C721T p.H241Y QVKKSLADEAEVHLKFSAKLHSEVE QVKKSLADEAEVYLKFSAKLHSEVE 10.0 4.0 CD8 - 2098_17:9837503-9837503 G>A_QVKKSLADEAEVYLKFSAKLHSEVE 1.0 16:31424229-31424229 T>C 0.0 4213 COLORECTAL - - - - ITGAD NM_005353,p.L593P|uc010cap.1,p.L594P|ENST00000389202,p.L593P|uc002ebv.1,p.L593P retained_intron, protein_coding uc010cap.1 nonsynonymous SNV exon15 c.T1781C p.L594P QYFGQALSGGQDLTQDGLMDLAVGA QYFGQALSGGQDPTQDGLMDLAVGA 5.0 5.0 - - 4213_16:31424229-31424229 T>C_QYFGQALSGGQDPTQDGLMDLAVGA 0.0 19:11917273-11917273 A>C 0.0 4346 COLORECTAL - - - - ZNF491 uc021upj.1,p.S169R|ENST00000323169,p.S169R|uc002mso.1,p.S169R|NM_152356,p.S169R protein_coding, processed_transcript uc021upj.1 nonsynonymous SNV exon1 c.A505C p.S169R KRYECKQCGKAFSWHSSVRIHERTH KRYECKQCGKAFRWHSSVRIHERTH 4.0 2.0 - - 4346_19:11917273-11917273 A>C_KRYECKQCGKAFRWHSSVRIHERTH 0.0 16:30762571-30762571 C>G 1.0 4320 COLORECTAL - - - - PHKG2 ENST00000424889,p.I80M|ENST00000565924,p.I80M|ENST00000328273,p.I80M|uc021tgo.1,p.I80M|ENST00000565897,p.I80M|ENST00000563588,p.I80M|NM_000294,p.I80M|uc002dzk.2,p.I80M|NM_001172432,p.I80M retained_intron, protein_coding, nonsense_mediated_decay uc021tgo.1 nonsynonymous SNV exon3 c.C240G p.I80M EEVREATRRETHILRQVAGHPHIIT EEVREATRRETHMLRQVAGHPHIIT 9.0 8.0 - - 4320_16:30762571-30762571 C>G_EEVREATRRETHMLRQVAGHPHIIT 0.0 1:204945917-204945917 G>A 1.0 4317 COLORECTAL - - - - NFASC ENST00000367170,p.V609M|uc010prb.2,p.V620M|ENST00000430393,p.V596M|ENST00000401399,p.V609M|ENST00000339876,p.V609M|NM_001005388,p.V609M|ENST00000367172,p.V609M|uc001hbj.3,p.V609M|ENST00000338586,p.V609M|NM_001160331,p.V620M|uc010prc.2,p.V176M|ENST00000338515,p.V609M|ENST00000367169,p.V609M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010prc.2 nonsynonymous SNV exon15 c.G526A p.V176M ELDQDLAKAYLTVLADQATPTNRLA ELDQDLAKAYLTMLADQATPTNRLA 7.0 10.0 - - 4317_1:204945917-204945917 G>A_ELDQDLAKAYLTMLADQATPTNRLA 0.0 4:2273076-2273076 C>T 1.0 4316 COLORECTAL - - - - ZFYVE28 uc003gex.2,p.V832I|uc003gew.2,p.V718I|uc011bvl.2,p.V802I|ENST00000515312,p.V762I|uc011bvk.2,p.V762I|NM_001172659,p.V762I|ENST00000290974,p.V832I|ENST00000508471,p.V137I|NM_001172656,p.V802I|ENST00000511071,p.V802I|NM_020972,p.V832I retained_intron, protein_coding, processed_transcript uc011bvl.2 nonsynonymous SNV exon11 c.G2404A p.V802I CGFCTACKAPFTVIRRKHHCRSCGK CGFCTACKAPFTIIRRKHHCRSCGK 4.0 10.0 - - 4316_4:2273076-2273076 C>T_CGFCTACKAPFTIIRRKHHCRSCGK 0.0 1:94140392-94140392 G>A 1.0 3903 MELANOMA - - - - BCAR3 ENST00000260502,p.S32F|uc001dpz.4,p.S32F|ENST00000370244,p.S32F|NM_003567,p.S32F|NM_001261408,p.S32F|uc001dqa.4,p.S32F|NM_001261409,p.S32F|uc001dqb.4,p.S32F|ENST00000370243,p.S32F retained_intron, protein_coding, processed_transcript uc001dqb.4 nonsynonymous SNV exon4 c.C95T p.S32F PLASSMDLLSSRSPLAEHRPDAYQD PLASSMDLLSSRFPLAEHRPDAYQD 8.0 4.0 - - 3903_1:94140392-94140392 G>A_PLASSMDLLSSRFPLAEHRPDAYQD 0.0 11:134038064-134038064 G>C 1.0 4266 COLORECTAL - - - - NCAPD3 ENST00000527944,p.L39V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000527944 nonsynonymous SNV exon1 c.C115G p.L39V CLSACFADGILPLDLDASELLSDTF CLSACFADGILPVDLDASELLSDTF 7.0 2.0 - - 4266_11:134038064-134038064 G>C_CLSACFADGILPVDLDASELLSDTF 0.0 6:10804074-10804074 A>G 1.0 4244 COLORECTAL - - - - MAK ENST00000538030,p.I181T|ENST00000354489,p.I181T|NM_005906,p.I181T|uc021ylk.1,p.I181T|uc021yll.1,p.I181T|ENST00000536370,p.I181T|ENST00000474039,p.I181T|NM_001242385,p.I181T|ENST00000313243,p.I181T|NM_001242957,p.I181T|uc003mzm.3,p.I181T protein_coding, processed_transcript uc021yll.1 nonsynonymous SNV exon7 c.T542C p.I181T EVLLRSSVYSSPIDVWAVGSIMAEL EVLLRSSVYSSPTDVWAVGSIMAEL 4.0 7.0 - - 4244_6:10804074-10804074 A>G_EVLLRSSVYSSPTDVWAVGSIMAEL 0.0 2:14774561-14774561 T>G 1.0 4252 COLORECTAL - - - - FAM84A uc021ved.1,p.I153S|ENST00000295092,p.I153S|ENST00000331243,p.I153S|NM_145175,p.I153S|uc002rbz.2,p.I153S protein_coding, processed_transcript uc021ved.1 nonsynonymous SNV exon1 c.T458G p.I153S APHWAVYVGGGQIIHLHQGEIRQDS APHWAVYVGGGQSIHLHQGEIRQDS 9.0 2.0 - - 4252_2:14774561-14774561 T>G_APHWAVYVGGGQSIHLHQGEIRQDS 0.0 3:42251399-42251399 G>C 1.0 4134 NSCLC - - - - TRAK1 uc011azj.3,p.E555Q|NM_001265609,p.E555Q|uc003cla.4,p.E571Q|ENST00000396175,p.E571Q|ENST00000341421,p.E571Q|ENST00000327628,p.E629Q|NM_014965,p.E571Q|NM_001042646,p.E629Q|NM_001265608,p.E629Q|uc003cky.4,p.E629Q|uc011azh.3,p.E629Q protein_coding, processed_transcript, nonsense_mediated_decay uc011azj.3 nonsynonymous SNV exon13 c.G1663C p.E555Q VDLDEVYCLNDFEEDDTGDHISLPR VDLDEVYCLNDFQEDDTGDHISLPR 7.0 9.0 - - 4134_3:42251399-42251399 G>C_VDLDEVYCLNDFQEDDTGDHISLPR 0.0 12:49227104-49227104 T>C 1.0 4037 NSCLC - - - - DDX23 NM_004818,p.K587E|uc001rsm.3,p.K587E|ENST00000308025,p.K587E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001rsm.3 nonsynonymous SNV exon13 c.A1759G p.K587E QKPDTDEAEDPEKMLANFESGKHKY QKPDTDEAEDPEEMLANFESGKHKY 9.0 10.0 - - 4037_12:49227104-49227104 T>C_QKPDTDEAEDPEEMLANFESGKHKY 0.0 14:24886191-24886191 C>G 0.0 4326 BREAST - - - - NYNRIN ENST00000382554,p.L1746V|NM_025081,p.L1746V|uc001wpf.4,p.L1746V protein_coding, processed_transcript uc001wpf.4 nonsynonymous SNV exon9 c.C5236G p.L1746V GKKWAASLPLLHLAFRASSTDATPF GKKWAASLPLLHVAFRASSTDATPF 6.0 5.0 - - 4326_14:24886191-24886191 C>G_GKKWAASLPLLHVAFRASSTDATPF 0.0 15:82335662-82335662 C>T 0.0 4298 COLORECTAL - - - - MEX3B uc002bgq.2,p.D517N|NM_032246,p.D517N|ENST00000329713,p.D517N protein_coding uc002bgq.2 nonsynonymous SNV exon2 c.G1549A p.D517N SSSSGLRRKGSRDCSVCFESEVIAA SSSSGLRRKGSRNCSVCFESEVIAA 3.0 8.0 - - 4298_15:82335662-82335662 C>T_SSSSGLRRKGSRNCSVCFESEVIAA 0.0 14:20295870-20295870 C>T 0.0 4275 COLORECTAL - - ID=COSM954072;OCCURENCE=1(large_intestine),1(endometrium) - OR4N2 ENST00000568211,p.A88V|ENST00000315947,p.A88V|ENST00000557677,p.A88V|NM_001004723,p.A88V|uc010tkv.2,p.A88V protein_coding uc010tkv.2 nonsynonymous SNV exon1 c.C263T p.A88V IVAPRMLVDFLSAKKIISYRGCITQ IVAPRMLVDFLSVKKIISYRGCITQ 1.0 7.0 - - 4275_14:20295870-20295870 C>T_IVAPRMLVDFLSVKKIISYRGCITQ 0.0 10:64973823-64973823 G>A 1.0 3919 MELANOMA - - - - JMJD1C uc010qiq.2,p.P520S|ENST00000399262,p.P702S|uc009xpi.3,p.P520S|ENST00000402544,p.P483S|ENST00000542921,p.P520S|uc001jml.3,p.P483S|NM_032776,p.P702S|uc001jmn.3,p.P702S|NM_001282948,p.P520S|ENST00000399251,p.P483S|uc001jmp.1,p.P414S|uc001jmm.3,p.P414S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010qiq.2 nonsynonymous SNV exon7 c.C1558T p.P520S PTRSSTLETTKSPLIIDKNEHFTVY PTRSSTLETTKSSLIIDKNEHFTVY 7.0 10.0 - - 3919_10:64973823-64973823 G>A_PTRSSTLETTKSSLIIDKNEHFTVY 0.0 2:141250234-141250234 A>C 0.0 4301 MELANOMA - - - 1 LRP1B uc002tvj.1,p.D3021E|ENST00000389484,p.D3021E|NM_018557,p.D3021E protein_coding, processed_transcript uc002tvj.1 nonsynonymous SNV exon57 c.T9063G p.D3021E SLSDEEPFLILADHHEIRKISTDGS SLSDEEPFLILAEHHEIRKISTDGS 1.0 7.0 - - 4301_2:141250234-141250234 A>C_SLSDEEPFLILAEHHEIRKISTDGS 0.0 20:36767900-36767900 G>A 1.0 4252 COLORECTAL - - - - TGM2 NM_198951,p.S419F|uc002xhs.1,p.S395F|uc002xhr.3,p.S419F|uc002xht.3,p.S419F|ENST00000361475,p.S419F|ENST00000536724,p.S359F|uc010zvy.2,p.S359F|uc010zvx.2,p.S338F|NM_004613,p.S419F|ENST00000536701,p.S338F retained_intron, protein_coding uc010zvy.2 nonsynonymous SNV exon8 c.C1076T p.S359F QDDGSVHKSINRSLIVGLKISTKSV QDDGSVHKSINRFLIVGLKISTKSV 10.0 5.0 - - 4252_20:36767900-36767900 G>A_QDDGSVHKSINRFLIVGLKISTKSV 0.0 15:50601929-50601929 G>A 0.0 3713 MELANOMA - - - - GABPB1 uc001zyf.3,p.R23C|ENST00000359031,p.R23C|ENST00000558335,p.R23C|ENST00000220429,p.R23C|ENST00000560825,p.R23C|NM_181427,p.R23C|uc001zyd.3,p.R23C|uc001zyc.3,p.R23C|NM_005254,p.R23C|ENST00000558970,p.R23C|NM_002041,p.R23C|NM_016655,p.R23C|ENST00000396464,p.R23C|ENST00000380877,p.R23C|uc001zyb.3,p.R23C|uc001zya.3,p.R23C|NM_016654,p.R23C|ENST00000429662,p.R23C|uc001zye.3,p.R23C retained_intron, protein_coding, TEC uc001zyf.3 nonsynonymous SNV exon3 c.C67T p.R23C LEAARAGQDDEVRILMANGAPFTTD LEAARAGQDDEVCILMANGAPFTTD 8.0 2.0 - - 3713_15:50601929-50601929 G>A_LEAARAGQDDEVCILMANGAPFTTD 0.0 6:138645213-138645214 CC>- 1.0 4326 BREAST - - - - KIAA1244 ENST00000251691,p.C1641fs|uc003qhu.3,p.C1641fs|NM_020340,p.C1641fs protein_coding uc003qhu.3 frameshift deletion exon31 c.4923_4924del p.C1641fs FHSGTESFSGEGCQVRVAAPSSSPSA FHSGTESFSGEG 6.0 4.0 - - 4326_6:138645213-138645214 CC>-_FHSGTESFSGEG 0.0 2:179647145-179647145 C>G 0.0 4298 COLORECTAL - - - - TTN uc021vta.2,p.E1012D|uc021vsy.2,p.E1058D|NM_133379,p.E1058D|uc002unb.3,p.E1058D|uc031rqc.1,p.E1058D|NM_133437,p.E1012D|NM_133432,p.E1012D|NM_003319,p.E1012D|NM_001256850,p.E1058D|uc031rqd.1,p.E1058D|ENST00000591111,p.E1058D|ENST00000342992,p.E1058D|uc021vtb.2,p.E1012D|ENST00000460472,p.E1012D|ENST00000360870,p.E1058D|ENST00000359218,p.E1012D|ENST00000342175,p.E1012D|NM_133378,p.E1058D|ENST00000589042,p.E1058D|uc021vsz.2,p.E1012D|NM_001267550,p.E1058D retained_intron, protein_coding uc031rqd.1 nonsynonymous SNV exon20 c.G3174C p.E1058D TEKFTTEEKRFVESRDVVMTDTSLT TEKFTTEEKRFVDSRDVVMTDTSLT 7.0 8.0 - - 4298_2:179647145-179647145 C>G_TEKFTTEEKRFVDSRDVVMTDTSLT 0.0 19:36340178-36340178 G>C 0.0 4287 COLORECTAL - - - - NPHS1 ENST00000353632,p.A267G|ENST00000378910,p.A267G|uc002oby.3,p.A267G|NM_004646,p.A267G retained_intron, protein_coding uc002oby.3 nonsynonymous SNV exon7 c.C800G p.A267G VRAGQSLELPCVARGGNPLATLQWL VRAGQSLELPCVGRGGNPLATLQWL 3.0 8.0 - - 4287_19:36340178-36340178 G>C_VRAGQSLELPCVGRGGNPLATLQWL 0.0 6:39835404-39835404 G>C 0.0 4160 COLORECTAL - - - - DAAM2 uc003oox.3,p.A183P|uc010jxc.3,p.A183P|NM_001201427,p.A183P|ENST00000398904,p.A183P|ENST00000538976,p.A183P|ENST00000274867,p.A183P|NM_015345,p.A183P|uc003oow.3,p.A183P retained_intron, protein_coding, processed_transcript uc010jxc.3 nonsynonymous SNV exon6 c.G547C p.A183P SRIHTSLIGCIKALMNNSQGRAHVL SRIHTSLIGCIKPLMNNSQGRAHVL 5.0 1.0 - - 4160_6:39835404-39835404 G>C_SRIHTSLIGCIKPLMNNSQGRAHVL 0.0 19:36051292-36051292 C>T 0.0 4278 COLORECTAL - - - - ATP4A uc002oal.1,p.A254T|NM_000704,p.A254T|ENST00000262623,p.A254T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002oal.1 nonsynonymous SNV exon6 c.G760A p.A254T CTHESPLETRNIAFFSTMCLEGTVQ CTHESPLETRNITFFSTMCLEGTVQ 4.0 4.0 - - 4278_19:36051292-36051292 C>T_CTHESPLETRNITFFSTMCLEGTVQ 0.0 2:27598547-27598547 C>T 1.0 4177 PANCREATIC - - - - SNX17 uc010ylp.2,p.R292C|NM_001267060,p.R292C|uc010eza.2,p.R103C|NM_014748,p.R317C|NM_001267059,p.R305C|uc010ylo.2,p.R235C|uc010ylk.2,p.R103C|ENST00000543024,p.R103C|uc010yll.2,p.R103C|ENST00000233575,p.R317C|ENST00000542478,p.R103C|NM_001267061,p.R297C|uc010ylq.2,p.R103C|ENST00000537606,p.R292C|uc002rkh.2,p.R103C|uc002rkg.2,p.R317C|uc010ylm.2,p.R103C|uc010ylj.2,p.R297C|uc010yln.2,p.R305C retained_intron, protein_coding, nonsense_mediated_decay uc010ylq.2 nonsynonymous SNV exon10 c.C307T p.R103C GQQLREGSFRVTRMRCWRVTSSVPL GQQLREGSFRVTCMRCWRVTSSVPL 9.0 6.0 - - 4177_2:27598547-27598547 C>T_GQQLREGSFRVTCMRCWRVTSSVPL 0.0 6:30917807-30917807 C>A 0.0 4326 BREAST - - - - DPCR1 ENST00000462446,p.H522Q|NM_080870,p.H522Q|uc003nsg.2,p.H522Q protein_coding uc003nsg.2 nonsynonymous SNV exon2 c.C1566A p.H522Q EKTTSSSAEPTEHGERTPLANENTT EKTTSSSAEPTEQGERTPLANENTT 3.0 1.0 - - 4326_6:30917807-30917807 C>A_EKTTSSSAEPTEQGERTPLANENTT 0.0 11:62288510-62288510 G>A 1.0 3713 MELANOMA - - - - AHNAK uc001ntl.3,p.S4460F|ENST00000378024,p.S4460F|NM_001620,p.S4460F protein_coding, processed_transcript uc001ntl.3 nonsynonymous SNV exon5 c.C13379T p.S4460F KMPEMNIKAPKISMPDFDLHLKGPK KMPEMNIKAPKIFMPDFDLHLKGPK 10.0 10.0 CD8 - 3713_11:62288510-62288510 G>A_KMPEMNIKAPKIFMPDFDLHLKGPK 1.0 15:23892642-23892642 G>A 0.0 2556 MELANOMA - - - - MAGEL2 NM_019066,p.P83L|uc001ywj.4,p.P83L protein_coding uc001ywj.4 nonsynonymous SNV exon1 c.C248T p.P83L QLPAPVVPMTQPPALGGPIVPAPPL QLPAPVVPMTQPLALGGPIVPAPPL 5.0 5.0 - - 2556_15:23892642-23892642 G>A_QLPAPVVPMTQPLALGGPIVPAPPL 0.0 11:6411896-6411896 G>A 1.0 4317 COLORECTAL - - - - SMPD1 NM_000543,p.G23E|NM_001007593,p.G23E|ENST00000533123,p.G23E|ENST00000356761,p.G23E|ENST00000299397,p.G23E|ENST00000531303,p.G23E|ENST00000342245,p.G23E|ENST00000534405,p.G23E|uc001mcw.3,p.G23E|uc021qcz.1,p.G23E|ENST00000527275,p.G23E|uc009yew.3,p.G23E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021qcz.1 nonsynonymous SNV exon1 c.G68A p.G23E SCPRSGREQGQDGTAGAPGLLWMGL SCPRSGREQGQDETAGAPGLLWMGL 7.0 5.0 - - 4317_11:6411896-6411896 G>A_SCPRSGREQGQDETAGAPGLLWMGL 0.0 5:139941760-139941760 G>A 0.0 4189 MELANOMA - - - - APBB3 ENST00000509914,p.P184L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000509914 nonsynonymous SNV exon6 c.C551T p.P184L MILKKDAMSLVNPLDHSLIHCQPLA MILKKDAMSLVNLLDHSLIHCQPLA 6.0 10.0 - - 4189_5:139941760-139941760 G>A_MILKKDAMSLVNLLDHSLIHCQPLA 0.0 9:27562392-27562392 G>A 1.0 2359 MELANOMA - - - - C9orf72 NM_001256054,p.P196L|ENST00000379997,p.P196L|uc003zqq.3,p.P196L|uc022bfa.2,p.P196L|ENST00000380003,p.P196L|NM_018325,p.P196L|ENST00000379995,p.P196L|NM_145005,p.P196L|uc003zqr.2,p.P196L protein_coding, processed_transcript uc022bfa.2 nonsynonymous SNV exon4 c.C587T p.P196L MELLSSMKSHSVPEEIDIADTVLND MELLSSMKSHSVLEEIDIADTVLND 7.0 9.0 - - 2359_9:27562392-27562392 G>A_MELLSSMKSHSVLEEIDIADTVLND 0.0 12:112182555-112182555 T>A 1.0 3466 MELANOMA - - - - ACAD10 ENST00000392636,p.M210K|uc001tsp.3,p.M608K|ENST00000313698,p.M608K|NM_025247,p.M608K|uc009zvx.3,p.M639K|ENST00000455480,p.M639K|NM_001136538,p.M639K|ENST00000549590,p.M608K|uc001tsq.3,p.M608K retained_intron, protein_coding, processed_transcript uc009zvx.3 nonsynonymous SNV exon14 c.T1916A p.M639K FAVKEGFRVFKEMPFTNPLTRSYHT FAVKEGFRVFKEKPFTNPLTRSYHT 7.0 4.0 - - 3466_12:112182555-112182555 T>A_FAVKEGFRVFKEKPFTNPLTRSYHT 0.0 10:83635617-83635617 C>T 0.0 4346 COLORECTAL - - - - NRG3 uc021pvc.1,p.P174L|ENST00000372141,p.P174L|NM_001165972,p.P174L|NM_001010848,p.P174L|uc001kco.2,p.P174L|ENST00000404547,p.P174L|uc010qlz.1,p.P174L protein_coding, nonsense_mediated_decay uc021pvc.1 nonsynonymous SNV exon1 c.C521T p.P174L TRAPTRFPGHRVPIRASPRSTTARN TRAPTRFPGHRVLIRASPRSTTARN 2.0 5.0 - - 4346_10:83635617-83635617 C>T_TRAPTRFPGHRVLIRASPRSTTARN 0.0 12:27842047-27842047 C>T 1.0 3466 MELANOMA - - - 1 PPFIBP1 ENST00000318304,p.L872F|ENST00000542629,p.L841F|uc010sjr.1,p.L703F|ENST00000228425,p.L866F|NM_003622,p.L866F|ENST00000537927,p.L719F|NM_001198916,p.L841F|uc001ric.2,p.L872F|uc001rib.2,p.L866F|uc001ria.3,p.L841F|uc001rif.2,p.L379F|uc001rid.2,p.L719F|NM_177444,p.L872F|NM_001198915,p.L719F|ENST00000540114,p.L703F retained_intron, protein_coding, processed_transcript, non_stop_decay uc010sjr.1 nonsynonymous SNV exon23 c.C2107T p.L703F TLLRRHLATHFNLLIGAEAQHQKRD TLLRRHLATHFNFLIGAEAQHQKRD 10.0 4.0 - - 3466_12:27842047-27842047 C>T_TLLRRHLATHFNFLIGAEAQHQKRD 0.0 19:11121065-11121065 A>G 1.0 4252 COLORECTAL - - - 1 SMARCA4 NM_001128848,p.K711R|NM_001128844,p.K711R|NM_001128846,p.K711R|NM_003072,p.K711R|uc010dxs.3,p.K711R|uc002mqj.4,p.K711R|uc002mqf.4,p.K711R|ENST00000590574,p.K711R|ENST00000450717,p.K711R|ENST00000344626,p.K711R|ENST00000413806,p.K711R|uc010dxr.3,p.K711R|ENST00000444061,p.K711R|uc010dxq.3,p.K711R|ENST00000541122,p.K711R|ENST00000589677,p.K711R|uc010dxo.3,p.K711R|ENST00000429416,p.K711R|NM_001128845,p.K711R|uc002mqg.1,p.K711R|uc010dxp.3,p.K711R|NM_001128849,p.K711R|ENST00000358026,p.K711R|NM_001128847,p.K711R retained_intron, protein_coding, processed_transcript uc010dxs.3 nonsynonymous SNV exon14 c.A2132G p.K711R SEVDARHIIENAKQDVDDEYGVSQA SEVDARHIIENARQDVDDEYGVSQA 10.0 3.0 - - 4252_19:11121065-11121065 A>G_SEVDARHIIENARQDVDDEYGVSQA 0.0 20:47736572-47736572 A>G 1.0 3716 MELANOMA - - - - STAU1 NM_001037328,p.F279L|ENST00000371792,p.F271L|uc002xuf.3,p.F279L|NM_004602,p.F273L|ENST00000360426,p.F273L|uc002xub.3,p.F279L|NM_017452,p.F273L|ENST00000371828,p.F279L|ENST00000347458,p.F273L|uc002xuc.3,p.F273L|NM_017453,p.F354L|ENST00000340954,p.F273L|uc002xua.3,p.F273L|uc002xug.3,p.F354L|NM_017454,p.F273L|ENST00000371802,p.F279L|uc002xud.3,p.F354L|ENST00000371856,p.F354L|uc002xue.3,p.F273L protein_coding uc002xug.3 nonsynonymous SNV exon9 c.T1060C p.F354L RNAAENMLEILGFKVPQAQPTKPAL RNAAENMLEILGLKVPQAQPTKPAL 10.0 1.0 - - 3716_20:47736572-47736572 A>G_RNAAENMLEILGLKVPQAQPTKPAL 0.0 7:73097318-73097318 G>C 1.0 4134 NSCLC - - - - DNAJC30 uc003tys.1,p.R146G|ENST00000395176,p.R146G|NM_032317,p.R146G protein_coding uc003tys.1 nonsynonymous SNV exon1 c.C436G p.R146G DPGSPRTPPPTSRTHDGSRASPGAN DPGSPRTPPPTSGTHDGSRASPGAN 7.0 3.0 - - 4134_7:73097318-73097318 G>C_DPGSPRTPPPTSGTHDGSRASPGAN 0.0 20:2312918-2312918 G>C 0.0 3775 CERVICAL - - - - TGM3 NM_003245,p.W535S|ENST00000381458,p.W535S|uc002wfx.4,p.W535S protein_coding, processed_transcript uc002wfx.4 nonsynonymous SNV exon10 c.G1604C p.W535S TIIYNGTLVHEVWKDSATMSLDPEE TIIYNGTLVHEVSKDSATMSLDPEE 1.0 5.0 - - 3775_20:2312918-2312918 G>C_TIIYNGTLVHEVSKDSATMSLDPEE 0.0 6:152265335-152265335 G>C 0.0 4186 BREAST - - - 1 ESR1 NM_001291241,p.R262T|uc010kip.3,p.R262T protein_coding, processed_transcript uc010kip.3 nonsynonymous SNV exon5 c.G785C p.R262T MMKGIRKDRRGGRMLKHKRQRDDGE MMKGIRKDRRGGTMLKHKRQRDDGE 3.0 9.0 - - 4186_6:152265335-152265335 G>C_MMKGIRKDRRGGTMLKHKRQRDDGE 0.0 1:144220887-144220887 T>G 1.0 4284 COLORECTAL - - - - NBPF20 uc010oxn.2,p.L625V|uc021otp.1,p.L542V|uc021oto.2,p.L542V|uc010oyd.2,p.L54V|uc001ekk.2,p.L298V|ENST00000369373,p.L52V|uc021otv.1,p.L298V|NM_001278267,p.L1576V|uc021otu.1,p.L298V protein_coding uc021otv.1 nonsynonymous SNV exon13 c.T892G p.L298V YSTPSGYLELPDLGQPYSSAVYSLE YSTPSGYLELPDVGQPYSSAVYSLE 10.0 7.0 - - 4284_1:144220887-144220887 T>G_YSTPSGYLELPDVGQPYSSAVYSLE 0.0 11:49207269-49207269 T>G 0.0 4278 COLORECTAL - - - - FOLH1 NM_001193471,p.N245H|uc001ngz.3,p.N260H|ENST00000533034,p.N245H|ENST00000356696,p.N260H|uc001ngy.3,p.N260H|NM_004476,p.N260H|NM_001014986,p.N260H|ENST00000256999,p.N260H|uc009yly.3,p.N245H|uc009ylz.3,p.N245H|ENST00000340334,p.N245H|NM_001193472,p.N245H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009ylz.3 nonsynonymous SNV exon7 c.A733C p.N245H LPGGGVQRGNILNLNGAGDPLTPGY LPGGGVQRGNILHLNGAGDPLTPGY 6.0 4.0 - - 4278_11:49207269-49207269 T>G_LPGGGVQRGNILHLNGAGDPLTPGY 0.0 11:64428413-64428413 C>T 0.0 4275 COLORECTAL 0.0005 - - - NRXN2 uc021qkw.1,p.R666H|NM_015080,p.R666H|ENST00000377551,p.R666H|ENST00000265459,p.R666H|uc021qkx.1,p.R635H|ENST00000409571,p.R659H|uc001oas.3,p.R635H|ENST00000377559,p.R635H|uc001oaq.3,p.R333H|NM_138732,p.R635H retained_intron, protein_coding, processed_transcript uc021qkx.1 nonsynonymous SNV exon9 c.G1904A p.R635H YVGCVRDLFIDGRSRDLRGLAEAQG YVGCVRDLFIDGHSRDLRGLAEAQG 7.0 8.0 - - 4275_11:64428413-64428413 C>T_YVGCVRDLFIDGHSRDLRGLAEAQG 0.0 1:34052209-34052209 C>T 0.0 4246 COLORECTAL - - ID=COSM4165160,COSM4165159;OCCURENCE=1(kidney) - CSMD2 uc001bxm.1,p.V2316I|ENST00000241312,p.V2318I|NM_001281956,p.V2316I|uc001bxn.1,p.V2318I|ENST00000373381,p.V2316I|NM_052896,p.V2318I protein_coding, processed_transcript, nonsense_mediated_decay uc001bxn.1 nonsynonymous SNV exon47 c.G6952A p.V2318I VTENEEFNIGDIVRYRCLPGFTLVG VTENEEFNIGDIIRYRCLPGFTLVG 3.0 6.0 - - 4246_1:34052209-34052209 C>T_VTENEEFNIGDIIRYRCLPGFTLVG 0.0 6:107069350-107069350 G>A 1.0 2591 MELANOMA - - - - RTN4IP1 ENST00000539449,p.P149S|ENST00000369063,p.P149S|NM_032730,p.P149S|uc003prk.3,p.P49S|uc003prj.3,p.P149S|uc010kdd.3,p.P149S protein_coding, processed_transcript uc010kdd.3 nonsynonymous SNV exon3 c.C445T p.P149S FKPGDEVWAAVPPWKQGTLSEFVVV FKPGDEVWAAVPSWKQGTLSEFVVV 6.0 4.0 - - 2591_6:107069350-107069350 G>A_FKPGDEVWAAVPSWKQGTLSEFVVV 0.0 5:178310049-178310049 C>T 1.0 3775 CERVICAL - - - - ZNF354B uc003mjl.3,p.S199L|ENST00000322434,p.S199L|uc003mjm.3,p.S199L|NM_058230,p.S199L protein_coding, processed_transcript uc003mjm.3 nonsynonymous SNV exon4 c.C596T p.S199L KCEIQRNSFKQNSNLLNQSKIKTAE KCEIQRNSFKQNLNLLNQSKIKTAE 7.0 10.0 - - 3775_5:178310049-178310049 C>T_KCEIQRNSFKQNLNLLNQSKIKTAE 0.0 1:161173318-161173318 C>T 1.0 3775 CERVICAL - - - - NDUFS2 ENST00000392179,p.P63S|uc001fyv.3,p.P63S|ENST00000367993,p.P63S|NM_001166159,p.P63S|uc001fyw.3,p.P63S|NM_004550,p.P63S protein_coding, processed_transcript uc001fyw.3 nonsynonymous SNV exon2 c.C187T p.P63S VMYPSKETAHWKPPPWNDVDPPKDT VMYPSKETAHWKSPPWNDVDPPKDT 10.0 10.0 - - 3775_1:161173318-161173318 C>T_VMYPSKETAHWKSPPWNDVDPPKDT 0.0 5:13841871-13841871 C>T 0.0 4246 COLORECTAL - - - - DNAH5 uc003jfd.2,p.R1805H|NM_001369,p.R1805H|ENST00000265104,p.R1805H retained_intron, protein_coding, processed_transcript uc003jfd.2 nonsynonymous SNV exon33 c.G5414A p.R1805H LEESQSSLHLVIRQAAANIQETGFQ LEESQSSLHLVIHQAAANIQETGFQ 4.0 3.0 - - 4246_5:13841871-13841871 C>T_LEESQSSLHLVIHQAAANIQETGFQ 0.0 8:27097502-27097502 G>A 0.0 4298 COLORECTAL - - - - STMN4 uc011lai.2,p.R193W|uc011laj.2,p.R157W|ENST00000519997,p.R157W|ENST00000523048,p.R193W|NM_001283055,p.R157W|NM_001283053,p.R193W retained_intron, protein_coding uc011laj.2 nonsynonymous SNV exon4 c.C469T p.R157W ENREAHLAAMLERLQEKEPPAAR ENREAHLAAMLEWLQEKEPPAAR 2.0 7.0 - - 4298_8:27097502-27097502 G>A_ENREAHLAAMLEWLQEKEPPAAR 0.0 3:97851948-97851948 T>C 0.0 4158 COLORECTAL - - - - OR5H1 uc011bgt.2,p.M136T|NM_001005338,p.M136T|ENST00000354565,p.M136T protein_coding uc011bgt.2 nonsynonymous SNV exon1 c.T407C p.M136T VAICKPLLYPAIMTNGLCIRLLILS VAICKPLLYPAITTNGLCIRLLILS 1.0 9.0 - - 4158_3:97851948-97851948 T>C_VAICKPLLYPAITTNGLCIRLLILS 0.0 20:376999-376999 G>T 1.0 4234 NSCLC - - - - TRIB3 ENST00000422053,p.G275C|uc002wdm.3,p.G248C|uc002wdn.3,p.G275C|NM_001301196,p.G248C|ENST00000449710,p.G248C|ENST00000217233,p.G248C|NM_001301190,p.G248C|NM_001301201,p.G275C|NM_001301188,p.G248C|NM_001301193,p.G248C|NM_021158,p.G248C protein_coding, processed_transcript uc002wdn.3 nonsynonymous SNV exon5 c.G823T p.G275C SYSGKAADVWSLGVALFTMLAGHYP SYSGKAADVWSLCVALFTMLAGHYP 8.0 6.0 - - 4234_20:376999-376999 G>T_SYSGKAADVWSLCVALFTMLAGHYP 0.0 5:21752012-21752012 G>A 0.0 3903 MELANOMA - - - - CDH12 ENST00000522262,p.A700V|uc010iuc.2,p.A740V|uc003jgk.2,p.A740V|ENST00000382254,p.A740V|uc011cno.1,p.A700V|NM_004061,p.A740V|ENST00000504376,p.A740V retained_intron, protein_coding, processed_transcript uc011cno.1 nonsynonymous SNV exon12 c.C2099T p.A700V PTAPPYDSLATYAYEGSGSVAESLS PTAPPYDSLATYVYEGSGSVAESLS 1.0 9.0 - - 3903_5:21752012-21752012 G>A_PTAPPYDSLATYVYEGSGSVAESLS 0.0 14:93673673-93673673 G>C 1.0 4240 BREAST - - - - UBR7 ENST00000013070,p.E13Q|ENST00000556871,p.E13Q|uc001ybm.4,p.E13Q|NM_175748,p.E13Q|ENST00000553674,p.E13Q|ENST00000554232,p.E13Q protein_coding, nonsense_mediated_decay uc001ybm.4 nonsynonymous SNV exon1 c.G37C p.E13Q MAGAEGAAGRQSELEPVVSLVDVLE MAGAEGAAGRQSQLEPVVSLVDVLE 9.0 8.0 - - 4240_14:93673673-93673673 G>C_MAGAEGAAGRQSQLEPVVSLVDVLE 0.0 20:51872368-51872368 G>T 0.0 4126 NSCLC - - - - TSHZ2 uc002xwo.3,p.A791S|NM_173485,p.A791S|uc021wex.1,p.A788S|NM_001193421,p.A788S|ENST00000329613,p.A788S|ENST00000371497,p.A791S|ENST00000603338,p.A788S protein_coding, processed_transcript uc021wex.1 nonsynonymous SNV exon2 c.G2362T p.A788S QAQSCMSPPQKHALSDIADMVKVLP QAQSCMSPPQKHSLSDIADMVKVLP 5.0 4.0 - - 4126_20:51872368-51872368 G>T_QAQSCMSPPQKHSLSDIADMVKVLP 0.0 13:101844357-101844357 C>T 0.0 4316 COLORECTAL - - - - NALCN ENST00000376196,p.V559I|uc001vox.1,p.V559I|uc001voy.3,p.V274I|uc001voz.2,p.V559I|ENST00000251127,p.V559I|uc001vpa.2,p.V559I|NM_052867,p.V559I retained_intron, protein_coding, processed_transcript uc001vpa.2 nonsynonymous SNV exon14 c.G1675A p.V559I MFQILTQEGWVDVMDQTLNAVGHMW MFQILTQEGWVDIMDQTLNAVGHMW 2.0 8.0 - - 4316_13:101844357-101844357 C>T_MFQILTQEGWVDIMDQTLNAVGHMW 0.0 6:34214319-34214319 G>T 1.0 4134 NSCLC - - - - C6orf1 uc003oji.4,p.A131E|ENST00000481533,p.A151E|uc003ojg.3,p.A151E|ENST00000468145,p.A151E|uc003ojh.3,p.A151E|NM_001287398,p.A131E|NM_178508,p.A151E|ENST00000413013,p.A131E|ENST00000394990,p.A151E|NM_001287397,p.A131E|ENST00000476320,p.A151E|NM_001287396,p.A151E|ENST00000335352,p.A131E|uc003ojf.3,p.A151E|NM_001008704,p.A151E|NM_001008703,p.A151E retained_intron, protein_coding uc003oji.4 nonsynonymous SNV exon4 c.C392A p.A131E ALMGRGFPSGMGAAGRHLCFL ALMGRGFPSGMGEAGRHLCFL 10.0 3.0 - - 4134_6:34214319-34214319 G>T_ALMGRGFPSGMGEAGRHLCFL 0.0 17:14205096-14205096 G>C 0.0 4110 BILE DUCT - - - - HS3ST3B1 ENST00000466596,p.R87S|NM_006041,p.R87S|uc002goh.1,p.R87S|ENST00000360954,p.R87S protein_coding, nonsense_mediated_decay uc002goh.1 nonsynonymous SNV exon1 c.G261C p.R87S PALATAPDGTPPRLPFRAPPATPLA PALATAPDGTPPSLPFRAPPATPLA 4.0 5.0 - - 4110_17:14205096-14205096 G>C_PALATAPDGTPPSLPFRAPPATPLA 0.0 7:139092010-139092010 G>T 1.0 3879 MELANOMA - - - - C7orf55-LUC7L2,LUC7L2 uc011kqs.2,p.D198Y|uc003vuz.1,p.D148Y|uc003vux.4,p.D201Y|NM_001270643,p.D200Y|ENST00000354926,p.D201Y|uc003vuy.4,p.D200Y|uc003vva.3,p.D148Y|ENST00000263545,p.D200Y|uc011kqt.3,p.D267Y|ENST00000541515,p.D267Y|NM_016019,p.D201Y|NM_001244585,p.D198Y|NM_001244584,p.D267Y|ENST00000541170,p.D198Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011kqt.3 nonsynonymous SNV exon7 c.G799T p.D267Y VCEVCSAYLGLHDNDRRLADHFGGK VCEVCSAYLGLHYNDRRLADHFGGK 10.0 9.0 - - 3879_7:139092010-139092010 G>T_VCEVCSAYLGLHYNDRRLADHFGGK 0.0 X:53228250-53228250 C>T 1.0 4245 COLORECTAL - - - 1 KDM5C ENST00000375379,p.A718T|ENST00000404049,p.A717T|NM_001146702,p.A651T|uc004drz.3,p.A718T|uc004dsa.3,p.A717T|NM_001282622,p.A717T|uc022bxe.1,p.A651T|ENST00000452825,p.A651T|ENST00000375401,p.A718T|ENST00000375383,p.A677T|NM_004187,p.A718T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc022bxe.1 nonsynonymous SNV exon13 c.G1951A p.A651T QCIKCKTTCFLSALACYDCPDGLVC QCIKCKTTCFLSTLACYDCPDGLVC 9.0 1.0 - - 4245_X:53228250-53228250 C>T_QCIKCKTTCFLSTLACYDCPDGLVC 0.0 2:85777099-85777099 A>T 1.0 4078 GASTRIC - - - - GGCX ENST00000233838,p.N745K|uc002sps.3,p.N745K|uc010yss.2,p.N561K|NM_000821,p.N745K|ENST00000430215,p.N688K|uc010yst.2,p.N688K|NM_001142269,p.N688K protein_coding, processed_transcript, nonsense_mediated_decay uc010yst.2 nonsynonymous SNV exon14 c.T2064A p.N688K ELNPSNTDSSHSNPPESNPDPVHSE ELNPSNTDSSHSKPPESNPDPVHSE 7.0 9.0 - - 4078_2:85777099-85777099 A>T_ELNPSNTDSSHSKPPESNPDPVHSE 0.0 12:104459948-104459948 C>T 0.0 4081 COLORECTAL - - ID=COSM1358319;OCCURENCE=1(large_intestine) - HCFC2 NM_013320,p.T56M|uc001tkj.4,p.T56M|ENST00000229330,p.T56M|ENST00000544223,p.T56M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001tkj.4 nonsynonymous SNV exon2 c.C167T p.T56M GIADELHVYNTATNQWFLPAVRGDI GIADELHVYNTAMNQWFLPAVRGDI 6.0 10.0 - - 4081_12:104459948-104459948 C>T_GIADELHVYNTAMNQWFLPAVRGDI 0.0 16:27784457-27784457 C>A 1.0 4266 COLORECTAL - - - - KIAA0556 uc002dow.3,p.D1412E|ENST00000261588,p.D1412E|NM_015202,p.D1412E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002dow.3 nonsynonymous SNV exon23 c.C4236A p.D1412E FIFQFQLLTSWGDPYYIGLTGLELY FIFQFQLLTSWGEPYYIGLTGLELY 8.0 1.0 - - 4266_16:27784457-27784457 C>A_FIFQFQLLTSWGEPYYIGLTGLELY 0.0 12:122709069-122709069 G>A 1.0 4252 COLORECTAL - - - - DIABLO NM_001278342,p.P58L|ENST00000353548,p.P58L|ENST00000413918,p.P58L|uc010tad.2,p.P58L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010tad.2 nonsynonymous SNV exon3 c.C173T p.P58L VTIGFGVTLCAVPIAQAVYTLTSLY VTIGFGVTLCAVLIAQAVYTLTSLY 10.0 8.0 - - 4252_12:122709069-122709069 G>A_VTIGFGVTLCAVLIAQAVYTLTSLY 0.0 22:41572907-41572907 G>A 0.0 4186 BREAST - - - 1 EP300 ENST00000263253,p.R1731H|uc003azl.4,p.R1731H|NM_001429,p.R1731H protein_coding uc003azl.4 nonsynonymous SNV exon31 c.G5192A p.R1731H QQAAATQSPGDSRRLSIQRCIQSLV QQAAATQSPGDSHRLSIQRCIQSLV 4.0 9.0 - - 4186_22:41572907-41572907 G>A_QQAAATQSPGDSHRLSIQRCIQSLV 0.0 18:6311570-6311570 C>T 1.0 2369 MELANOMA - - - - L3MBTL4 ENST00000583054,p.D19N|ENST00000284898,p.D19N|ENST00000400104,p.D19N|uc010dkt.3,p.D19N|uc002kmz.4,p.D19N|ENST00000317931,p.D19N|ENST00000583809,p.D19N|uc002kmy.4,p.D19N|ENST00000581231,p.D19N|NM_173464,p.D19N|ENST00000400105,p.D19N protein_coding, processed_transcript uc010dkt.3 nonsynonymous SNV exon3 c.G55A p.D19N KRKLNMDSKERLDQDGRLEQAEEEK KRKLNMDSKERLNQDGRLEQAEEEK 6.0 7.0 - - 2369_18:6311570-6311570 C>T_KRKLNMDSKERLNQDGRLEQAEEEK 0.0 11:71850744-71850744 A>T 1.0 4046 OVARIAN - - - - FOLR3 ENST00000442948,p.S202C|ENST00000445078,p.S243C|uc001ory.1,p.S245C|ENST00000456237,p.S245C retained_intron, protein_coding, nonsense_mediated_decay uc001ory.1 nonsynonymous SNV exon5 c.A733T p.S245C GLWSHSFKVSNYSRGSGRCIQMWFD GLWSHSFKVSNYCRGSGRCIQMWFD 9.0 5.0 - - 4046_11:71850744-71850744 A>T_GLWSHSFKVSNYCRGSGRCIQMWFD 0.0 6:161488276-161488276 C>T 1.0 4000 MELANOMA - - - - MAP3K4 uc011ega.2,p.S5F|NM_001291958,p.S5F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011ega.2 nonsynonymous SNV exon4 c.C14T p.S5F MYIGSIQKDRTTRSRDG MYIGFIQKDRTTRSRDG 7.0 4.0 - - 4000_6:161488276-161488276 C>T_MYIGFIQKDRTTRSRDG 0.0 18:45566986-45566986 C>T 0.0 4301 MELANOMA - - ID=COSM988701;OCCURENCE=1(endometrium) - ZBTB7C uc010doo.1,p.D165N|ENST00000588982,p.D165N|ENST00000332053,p.D165N|ENST00000586438,p.D165N|uc010doc.1,p.D174N|uc010don.1,p.D173N|NM_001039360,p.D165N|uc010dnu.3,p.D174N|uc010dob.1,p.D165N|uc010dor.1,p.D187N|uc010doi.1,p.D165N|uc010dnz.1,p.D187N|uc010dog.1,p.D165N|uc010doh.1,p.D174N|uc010dop.1,p.D165N|uc010dos.1,p.D165N|uc002ldb.3,p.D165N|uc010dod.1,p.D187N|uc010dok.1,p.D214N|uc010doe.1,p.D165N|uc010dot.1,p.D165N|ENST00000590800,p.D165N|uc010doa.1,p.D187N|uc010dnw.3,p.D165N|uc010dny.1,p.D165N|uc010dnx.1,p.D165N|uc010dou.1,p.D174N|uc010doj.1,p.D174N|uc010dof.1,p.D165N|ENST00000535628,p.D165N|uc010dom.1,p.D174N|uc010dol.1,p.D174N|uc010doq.1,p.D174N|uc010dnv.3,p.D187N protein_coding uc010dou.1 nonsynonymous SNV exon6 c.G520A p.D174N DEEEEEEEEEDDDDDTEDFADQENL DEEEEEEEEEDDNDDTEDFADQENL 5.0 7.0 - - 4301_18:45566986-45566986 C>T_DEEEEEEEEEDDNDDTEDFADQENL 0.0 15:27128535-27128535 C>T 0.0 4081 COLORECTAL - - ID=COSM281290;OCCURENCE=1(large_intestine) - GABRA5 ENST00000555182,p.R78W|ENST00000400081,p.R110W|uc001zbd.2,p.R110W|ENST00000554596,p.R110W|ENST00000335625,p.R110W|NM_001165037,p.R110W|NM_000810,p.R110W|uc021sgi.1,p.R110W|ENST00000355395,p.R110W|ENST00000554599,p.R110W protein_coding, processed_transcript uc021sgi.1 nonsynonymous SNV exon6 c.C328T p.R110W VFFRQSWKDERLRFKGPMQRLPLNN VFFRQSWKDERLWFKGPMQRLPLNN 1.0 4.0 - - 4081_15:27128535-27128535 C>T_VFFRQSWKDERLWFKGPMQRLPLNN 0.0 4:1985834-1985834 G>C 1.0 4320 COLORECTAL - - - - NELFA ENST00000411638,p.S348C|ENST00000416258,p.S352C|NM_005663,p.S359C|uc003gen.3,p.S213C|uc003gel.3,p.S273C|uc003gek.3,p.S85C|ENST00000542778,p.S213C|uc003gem.3,p.S359C|ENST00000382882,p.S359C retained_intron, protein_coding, nonsense_mediated_decay uc003gen.3 nonsynonymous SNV exon8 c.C638G p.S213C SYIPSSETPPAPSSREASRPPEEPS SYIPSSETPPAPCSREASRPPEEPS 6.0 7.0 - - 4320_4:1985834-1985834 G>C_SYIPSSETPPAPCSREASRPPEEPS 0.0 10:50085167-50085167 A>C 0.0 4078 GASTRIC - - - - WDFY4 ENST00000325239,p.S2364R|NM_020945,p.S2364R|uc001jha.4,p.S2364R protein_coding, processed_transcript uc001jha.4 nonsynonymous SNV exon43 c.A7090C p.S2364R CTQLTFFPALHESLHSEDFLELCRE CTQLTFFPALHERLHSEDFLELCRE 5.0 8.0 - - 4078_10:50085167-50085167 A>C_CTQLTFFPALHERLHSEDFLELCRE 0.0 16:83636101-83636101 G>A 1.0 3713 MELANOMA - - - - CDH13 uc010vns.2,p.D382N|NM_001220488,p.D382N|uc010vnt.2,p.D81N|NM_001220490,p.D81N|uc010vnu.2,p.D296N|NM_001220489,p.D296N|uc002fgx.3,p.D335N|ENST00000268613,p.D382N|NM_001257,p.D335N|ENST00000428848,p.D296N|ENST00000566620,p.D335N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vnu.2 nonsynonymous SNV exon7 c.G886A p.D296N ENPKYELIIEAQDMAGLDVGLTGTA ENPKYELIIEAQNMAGLDVGLTGTA 3.0 7.0 - - 3713_16:83636101-83636101 G>A_ENPKYELIIEAQNMAGLDVGLTGTA 0.0 16:2817179-2817179 T>C 1.0 4196 COLORECTAL - - - - SRRM2 ENST00000301740,p.L2217P|uc002crl.1,p.L2217P|uc002crj.1,p.L2121P|uc010bsu.1,p.L2121P|NM_016333,p.L2217P|uc002crk.3,p.L2217P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010bsu.1 nonsynonymous SNV exon10 c.T6362C p.L2121P AARMSQVPAPVPLMSLRTAPAANLA AARMSQVPAPVPPMSLRTAPAANLA 10.0 4.0 - - 4196_16:2817179-2817179 T>C_AARMSQVPAPVPPMSLRTAPAANLA 0.0 22:21344786-21344786 C>T 1.0 3713 MELANOMA - - - 1 LZTR1 uc011ahy.2,p.L236F|ENST00000215739,p.L255F|NM_006767,p.L255F|ENST00000389355,p.L236F|uc002zto.3,p.L255F|uc010gsr.1,p.L126F|uc002ztn.3,p.L214F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011ahy.2 nonsynonymous SNV exon7 c.C706T p.L236F FSGQSGAKITNNLFQFEFKDKTWTR FSGQSGAKITNNFFQFEFKDKTWTR 10.0 6.0 - - 3713_22:21344786-21344786 C>T_FSGQSGAKITNNFFQFEFKDKTWTR 0.0 X:107841965-107841965 C>T 1.0 3879 MELANOMA - - - - COL4A5 uc004eob.1,p.P213S|ENST00000328300,p.P605S|ENST00000361603,p.P605S|uc022ccg.2,p.P605S|uc004enz.2,p.P605S|NM_000495,p.P605S retained_intron, protein_coding, processed_transcript uc022ccg.2 nonsynonymous SNV exon25 c.C1813T p.P605S PGGITFKGERGPPGNPGLPGLPGNI PGGITFKGERGPSGNPGLPGLPGNI 8.0 10.0 - - 3879_X:107841965-107841965 C>T_PGGITFKGERGPSGNPGLPGLPGNI 0.0 14:65263283-65263283 C>T 0.0 4095 COLORECTAL - - - - SPTB ENST00000542895,p.V445M|ENST00000389721,p.V445M|ENST00000389720,p.V445M|ENST00000556626,p.V445M|NM_000347,p.V445M|NM_001024858,p.V445M|uc001xhs.3,p.V445M|uc001xhu.3,p.V445M|uc001xht.3,p.V445M|ENST00000389722,p.V445M|uc001xhr.3,p.V445M retained_intron, protein_coding, processed_transcript uc001xhu.3 nonsynonymous SNV exon11 c.G1333A p.V445M MRETWLSENQRLVAQDNFGYDLAAV MRETWLSENQRLMAQDNFGYDLAAV 4.0 7.0 - - 4095_14:65263283-65263283 C>T_MRETWLSENQRLMAQDNFGYDLAAV 0.0 11:772466-772466 C>G 1.0 4126 NSCLC - - - - PDDC1 ENST00000442059,p.E87D|uc010qwq.1,p.E51D|ENST00000526325,p.E137D|uc010qwr.1,p.E137D|ENST00000528309,p.E75D|NM_182612,p.E137D|ENST00000354286,p.E101D|ENST00000526650,p.E61D|uc001lrf.1,p.E101D|uc001lrd.3,p.E137D|uc001lrc.3,p.E137D|uc010qws.1,p.E87D|uc009ycg.3,p.E87D|ENST00000397472,p.E137D|ENST00000319863,p.E137D|uc010qwp.1,p.E101D|uc010qwm.2,p.E87D|uc021qbo.1,p.E87D|ENST00000524550,p.E101D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021qbo.1 nonsynonymous SNV exon4 c.G261C p.E87D GHGVAALCCATNEDRSWVFDSYSLT GHGVAALCCATNDDRSWVFDSYSLT 7.0 2.0 - - 4126_11:772466-772466 C>G_GHGVAALCCATNDDRSWVFDSYSLT 0.0 X:119388799-119388799 G>A 0.0 4158 COLORECTAL - - - - ZBTB33 uc022cdm.1,p.R510Q|NM_001184742,p.R510Q|uc004esn.1,p.R510Q|ENST00000326624,p.R510Q|NM_006777,p.R510Q|uc010nqm.1,p.R510Q|ENST00000557385,p.R510Q protein_coding uc022cdm.1 nonsynonymous SNV exon1 c.G1529A p.R510Q VCKRSYVCLTSLRRHFNIHSWEKKY VCKRSYVCLTSLQRHFNIHSWEKKY 7.0 7.0 - - 4158_X:119388799-119388799 G>A_VCKRSYVCLTSLQRHFNIHSWEKKY 0.0 4:108866527-108866527 C>T 1.0 3713 MELANOMA - - - - CYP2U1 uc003hyp.3,p.L298F|ENST00000332884,p.L298F|uc011cfi.2,p.L89F|NM_183075,p.L298F|ENST00000508453,p.L89F protein_coding, processed_transcript uc011cfi.2 nonsynonymous SNV exon4 c.C265T p.L89F ELRQIEKDITSFLKKIIKDHQESLD ELRQIEKDITSFFKKIIKDHQESLD 8.0 5.0 - - 3713_4:108866527-108866527 C>T_ELRQIEKDITSFFKKIIKDHQESLD 0.0 13:102359130-102359130 G>C 0.0 4259 COLORECTAL - - - - ITGBL1 uc010agb.4,p.R337P|NM_001271754,p.R245P|ENST00000545560,p.R245P|NM_001271755,p.R337P|uc001vpc.5,p.R245P|NM_004791,p.R386P|NM_001271756,p.R293P|ENST00000376180,p.R386P|ENST00000376162,p.R293P|uc001vpb.4,p.R386P|uc031qnc.1,p.R293P protein_coding, processed_transcript uc031qnc.1 nonsynonymous SNV exon8 c.G878C p.R293P VVCGGHGTCSCGRCVCERGWFGKLC VVCGGHGTCSCGPCVCERGWFGKLC 7.0 6.0 - - 4259_13:102359130-102359130 G>C_VVCGGHGTCSCGPCVCERGWFGKLC 0.0 6:154489119-154489119 C>T 0.0 4259 COLORECTAL - - - - IPCEF1 ENST00000367220,p.R347Q|NM_015553,p.R346Q|NM_001130700,p.R347Q|uc003qpw.3,p.R347Q|uc003qpx.3,p.R346Q|uc010kjh.3,p.R347Q|NM_001130699,p.R347Q|ENST00000519344,p.R318Q|ENST00000265198,p.R346Q|uc003qpv.3,p.R217Q|uc021zhc.1,p.R808Q|ENST00000422970,p.R347Q retained_intron, protein_coding, processed_transcript uc021zhc.1 nonsynonymous SNV exon21 c.G2423A p.R808Q STKKELRKSFVKRCKNPSINEKLHK STKKELRKSFVKQCKNPSINEKLHK 4.0 6.0 - - 4259_6:154489119-154489119 C>T_STKKELRKSFVKQCKNPSINEKLHK 0.0 1:35227318-35227318 G>A 0.0 3795 MELANOMA - - - - GJB4 uc001bxw.4,p.D155N|NM_153212,p.D155N|ENST00000339480,p.D155N|uc001bxv.1,p.D155N protein_coding uc001bxw.4 nonsynonymous SNV exon1 c.G463A p.D155N AGFLYIFHRLYKDYDMPRVVACSVE AGFLYIFHRLYKNYDMPRVVACSVE 1.0 9.0 - - 3795_1:35227318-35227318 G>A_AGFLYIFHRLYKNYDMPRVVACSVE 0.0 10:112356189-112356189 G>A 0.0 4110 BILE DUCT - - - - SMC3 ENST00000361804,p.G666E|NM_005445,p.G666E|uc001kze.3,p.G666E protein_coding, processed_transcript uc001kze.3 nonsynonymous SNV exon19 c.G1997A p.G666E EGDQVSHRGALTGGYYDTRKSRLEL EGDQVSHRGALTEGYYDTRKSRLEL 8.0 6.0 - - 4110_10:112356189-112356189 G>A_EGDQVSHRGALTEGYYDTRKSRLEL 0.0 4:20597363-20597363 G>A 1.0 3713 MELANOMA - - ID=COSM108869;OCCURENCE=1(skin) - SLIT2 NM_004787,p.D1076N|ENST00000273739,p.D1089N|uc003gpr.1,p.D1076N|ENST00000504154,p.D1076N|NM_001289135,p.D1072N|NM_001289136,p.D1068N|ENST00000503837,p.D1072N|ENST00000503823,p.D1068N|uc003gps.1,p.D1068N retained_intron, protein_coding, processed_transcript uc003gps.1 nonsynonymous SNV exon30 c.G3202A p.D1068N CTPGYVGEHCDIDFDDCQDNKCKNG CTPGYVGEHCDINFDDCQDNKCKNG 3.0 6.0 - - 3713_4:20597363-20597363 G>A_CTPGYVGEHCDINFDDCQDNKCKNG 0.0 12:69652489-69652489 C>T 1.0 4180 BREAST - - - - CPSF6 ENST00000456847,p.R199C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000456847 nonsynonymous SNV exon6 c.C595T p.R199C GPPGAGPPNRGDRPPPPVLFPGQPF GPPGAGPPNRGDCPPPPVLFPGQPF 10.0 9.0 - - 4180_12:69652489-69652489 C>T_GPPGAGPPNRGDCPPPPVLFPGQPF 0.0 9:125562624-125562624 G>A 0.0 4329 COLORECTAL - - - - OR1K1 ENST00000277309,p.A75T|uc011lze.2,p.A75T|NM_080859,p.A75T protein_coding uc011lze.2 nonsynonymous SNV exon1 c.G223A p.A75T LLAHLSFADLCFASVTVPKMLANLL LLAHLSFADLCFTSVTVPKMLANLL 1.0 9.0 - - 4329_9:125562624-125562624 G>A_LLAHLSFADLCFTSVTVPKMLANLL 0.0 1:158325101-158325101 A>C 0.0 4235 COLORECTAL - - - - CD1E ENST00000368160,p.I123L|uc001fsf.3,p.I123L|NM_030893,p.I123L|uc001fry.3,p.I123L|NM_001042584,p.I123L|ENST00000434258,p.I121L|NM_001042585,p.I123L|uc001fse.3,p.I123L|ENST00000368167,p.I123L|uc001fsd.3,p.I123L|NM_001042583,p.I123L|uc010pid.2,p.I121L|ENST00000368163,p.I123L|ENST00000368161,p.I123L protein_coding, processed_transcript uc010pid.2 nonsynonymous SNV exon3 c.A361C p.I121L SAGQFQLEYPFEIQILAGCRMNAPQ SAGQFQLEYPFELQILAGCRMNAPQ 2.0 4.0 - - 4235_1:158325101-158325101 A>C_SAGQFQLEYPFELQILAGCRMNAPQ 0.0 1:22191538-22191538 G>A 0.0 4240 BREAST - - - - HSPG2 NM_001291860,p.P1476L|uc009vqd.3,p.P1476L|NM_005529,p.P1475L|uc001bfj.3,p.P1475L|ENST00000374695,p.P1475L protein_coding, processed_transcript, nonsense_mediated_decay uc009vqd.3 nonsynonymous SNV exon36 c.C4427T p.P1476L FREEFWRRPDGQPATREHLLMALAD FREEFWRRPDGQLATREHLLMALAD 9.0 8.0 - - 4240_1:22191538-22191538 G>A_FREEFWRRPDGQLATREHLLMALAD 0.0 14:105452964-105452964 G>T 1.0 3903 MELANOMA - - - - C14orf79 ENST00000389964,p.A66S|uc001ypy.1,p.A66S|NM_174891,p.A66S|ENST00000547315,p.A66S|ENST00000548641,p.A66S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001ypy.1 nonsynonymous SNV exon1 c.G196T p.A66S ISMPREGGSTCTARCPDPGEHSSTW ISMPREGGSTCTSRCPDPGEHSSTW 8.0 8.0 - - 3903_14:105452964-105452964 G>T_ISMPREGGSTCTSRCPDPGEHSSTW 0.0 7:42004379-42004379 G>A 0.0 4213 COLORECTAL - - - - GLI3 ENST00000395925,p.P1431L|NM_000168,p.P1431L|uc011kbh.2,p.P1431L|uc011kbg.2,p.P1372L retained_intron, protein_coding, processed_transcript uc011kbh.2 nonsynonymous SNV exon15 c.C4292T p.P1431L NGIKMEMKGQPHPLCSNLQNYSGQF NGIKMEMKGQPHLLCSNLQNYSGQF 6.0 4.0 - - 4213_7:42004379-42004379 G>A_NGIKMEMKGQPHLLCSNLQNYSGQF 0.0 22:21990826-21990826 G>A 0.0 3903 MELANOMA - - - - CCDC116 uc002zve.3,p.D437N|ENST00000292779,p.D437N|NM_152612,p.D437N protein_coding uc002zve.3 nonsynonymous SNV exon5 c.G1309A p.D437N SHFSNRLYEELADFLTQQAASLVIR SHFSNRLYEELANFLTQQAASLVIR 2.0 9.0 - - 3903_22:21990826-21990826 G>A_SHFSNRLYEELANFLTQQAASLVIR 0.0 5:140307781-140307781 T>C 0.0 3903 MELANOMA - - - - PCDHAC1 ENST00000409700,p.V435A|NM_031882,p.V435A|ENST00000253807,p.V435A|uc003lih.2,p.V435A|NM_018898,p.V435A|uc003lig.1,p.V435A protein_coding uc003lih.2 nonsynonymous SNV exon1 c.T1304C p.V435A PPLSTRRTITVSVADVNDNTPNFPQ PPLSTRRTITVSAADVNDNTPNFPQ 1.0 5.0 - - 3903_5:140307781-140307781 T>C_PPLSTRRTITVSAADVNDNTPNFPQ 0.0 15:79586571-79586571 G>C 0.0 4186 BREAST - - - - ANKRD34C ENST00000421388,p.E315D|ENST00000558647,p.E315D|NM_001146341,p.E315D|uc021srm.1,p.E315D|uc002bet.3,p.E315D protein_coding uc021srm.1 nonsynonymous SNV exon1 c.G945C p.E315D DSKDPTLFHTVTEQVLKIPVSSAPA DSKDPTLFHTVTDQVLKIPVSSAPA 1.0 9.0 - - 4186_15:79586571-79586571 G>C_DSKDPTLFHTVTDQVLKIPVSSAPA 0.0 16:69729078-69729078 C>T 1.0 4317 COLORECTAL - - - - NFAT5 ENST00000566899,p.P1391L|ENST00000393742,p.P1391L|NM_173214,p.P1391L|NM_138713,p.P1485L|NM_001113178,p.P1484L|uc002exl.2,p.P1485L|NM_138714,p.P1391L|uc002exm.2,p.P1467L|ENST00000565301,p.P77L|uc002exi.3,p.P1391L|ENST00000349945,p.P1391L|NM_006599,p.P1467L|NM_173215,p.P1391L|ENST00000354436,p.P1467L|uc002exn.2,p.P1484L|ENST00000432919,p.P1485L|ENST00000567239,p.P1484L|uc002exj.2,p.P1391L|uc002exk.2,p.P1391L retained_intron, protein_coding, nonsense_mediated_decay uc002exn.2 nonsynonymous SNV exon14 c.C4451T p.P1484L CSQLLTSGPATLPDQLMAISQPGQP CSQLLTSGPATLLDQLMAISQPGQP 10.0 10.0 - - 4317_16:69729078-69729078 C>T_CSQLLTSGPATLLDQLMAISQPGQP 0.0 19:58578703-58578703 C>T 0.0 4155 MELANOMA - - - - ZNF135 ENST00000359978,p.P296L|uc010yhr.2,p.P105L|ENST00000506786,p.P242L|ENST00000401053,p.P308L|uc002qrd.2,p.P296L|ENST00000439855,p.P284L|NM_003436,p.P296L|uc002qrg.3,p.P308L|NM_007134,p.P308L|ENST00000313434,p.P284L|NM_001164530,p.P296L|NM_001289402,p.P242L|ENST00000511556,p.P296L|NM_001289401,p.P284L|uc010yhq.2,p.P296L|uc002qrf.3,p.P242L|uc002qre.3,p.P284L protein_coding, nonsense_mediated_decay uc010yhr.2 nonsynonymous SNV exon3 c.C314T p.P105L CTQCGRTFNQIAPLIQHQRTHTGEK CTQCGRTFNQIALLIQHQRTHTGEK 3.0 8.0 - - 4155_19:58578703-58578703 C>T_CTQCGRTFNQIALLIQHQRTHTGEK 0.0 10:72534084-72534084 T>A 0.0 4258 ENDOMETRIAL - - - - TBATA uc010qjm.1,p.T269S|uc010qjn.1,p.T267S|ENST00000299290,p.T268S|uc001jrj.1,p.T268S|NM_152710,p.T268S protein_coding uc010qjn.1 nonsynonymous SNV exon9 c.A799T p.T267S PKEKDLALGLLQTAVAQLLPQPLVS PKEKDLALGLLQSAVAQLLPQPLVS 1.0 9.0 - - 4258_10:72534084-72534084 T>A_PKEKDLALGLLQSAVAQLLPQPLVS 0.0 X:153008476-153008476 T>C, X:153008483-153008483 G>A 0.0 4301 MELANOMA - - - - ABCD1 uc004fif.2,p.S606P|NM_000033,p.S606P|ENST00000218104,p.S606P protein_coding uc004fif.2 nonsynonymous SNV exon8 c.T1816C, c.G1823A p.S606P, p.G608D GWEAMCDWKDVLSGGEKQRIGMARM GWEAMCDWKDVLPGDEKQRIGMARM 7.0 3.0 - Additional variant within 36 nucleotides, X:153008483-153008483 G>A, residue 15 G>D PR 4301_X:153008476-153008476 T>C, X:153008483-153008483 G>A_GWEAMCDWKDVLPGDEKQRIGMARM 0.0 5:21760750-21760750 A>C 0.0 4196 COLORECTAL - - - - CDH12 NM_004061,p.L517R|ENST00000382254,p.L517R|uc011cno.1,p.L477R|ENST00000504376,p.L517R|uc003jgk.2,p.L517R|ENST00000522262,p.L477R|uc010iuc.2,p.L517R retained_intron, protein_coding, processed_transcript uc011cno.1 nonsynonymous SNV exon10 c.T1430G p.L477R QIIQIVSAADRDLSPAGQQFSFRLS QIIQIVSAADRDRSPAGQQFSFRLS 3.0 4.0 - - 4196_5:21760750-21760750 A>C_QIIQIVSAADRDRSPAGQQFSFRLS 0.0 7:14216503-14216503 C>T 0.0 4245 COLORECTAL - - - - DGKB uc011jxu.2,p.M755I|ENST00000407950,p.M748I|NM_145695,p.M756I|ENST00000403951,p.M756I|ENST00000402815,p.M755I|ENST00000258767,p.M756I|ENST00000444700,p.M737I|uc003ssz.3,p.M756I|ENST00000399322,p.M756I|NM_004080,p.M756I|uc011jxt.2,p.M737I|ENST00000406247,p.M756I|uc003sta.3,p.M756I retained_intron, protein_coding, processed_transcript uc011jxu.2 nonsynonymous SNV exon24 c.G2265A p.M755I SCVVIRTSKSLPMQIDGEPWMQTPC SCVVIRTSKSLPIQIDGEPWMQTPC 1.0 7.0 - - 4245_7:14216503-14216503 C>T_SCVVIRTSKSLPIQIDGEPWMQTPC 0.0 6:34386174-34386174 C>T 1.0 4240 BREAST - - - - RPS10,RPS10-NUDT3 NM_001204091,p.G143E|uc021yyu.1,p.G143E|NM_001203245,p.G143E|NM_001014,p.G143E|uc003ojn.3,p.G143E|ENST00000326199,p.G143E|uc003ojm.3,p.G143E protein_coding, processed_transcript uc021yyu.1 nonsynonymous SNV exon5 c.G428A p.G143E AVPPGADKKAEAGAGSATEFQFRGG AVPPGADKKAEAEAGSATEFQFRGG 10.0 6.0 CD8 - 4240_6:34386174-34386174 C>T_AVPPGADKKAEAEAGSATEFQFRGG 2.0 14:100380547-100380547 T>A 0.0 4278 COLORECTAL - - - - EML1 NM_004434,p.V509E|uc010tww.2,p.V497E|uc001ygr.3,p.V528E|ENST00000262233,p.V509E|uc001ygs.3,p.V509E|ENST00000334192,p.V528E|ENST00000327921,p.V497E|NM_001008707,p.V528E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010tww.2 nonsynonymous SNV exon15 c.T1490A p.V497E TEIPEQFGPIRTVAEGKGDVILIGT TEIPEQFGPIRTEAEGKGDVILIGT 8.0 9.0 - - 4278_14:100380547-100380547 T>A_TEIPEQFGPIRTEAEGKGDVILIGT 0.0 7:140453136-140453136 A>T 1.0 4244 COLORECTAL - - ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system) 1 BRAF ENST00000288602,p.V600E|uc003vwc.4,p.V600E|ENST00000479537,p.V28E|NM_004333,p.V600E retained_intron, protein_coding, nonsense_mediated_decay uc003vwc.4 nonsynonymous SNV exon15 c.T1799A p.V600E LTVKIGDFGLATVKSRWSGSHQFEQ LTVKIGDFGLATEKSRWSGSHQFEQ 7.0 10.0 - - 4244_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ 0.0 11:102668786-102668786 C>G 0.0 4158 COLORECTAL - - - - MMP1 uc001phi.2,p.W13S|NM_002421,p.W13S|ENST00000315274,p.W13S protein_coding uc001phi.2 nonsynonymous SNV exon1 c.G38C p.W13S MHSFPPLLLLLFWGVVSHSFPATLE MHSFPPLLLLLFSGVVSHSFPATLE 4.0 8.0 - - 4158_11:102668786-102668786 C>G_MHSFPPLLLLLFSGVVSHSFPATLE 0.0 20:17640899-17640899 T>G 0.0 3775 CERVICAL - - - - RRBP1 uc010zrr.1,p.D85A|uc002wpv.1,p.D85A|ENST00000246043,p.D85A|uc010zrq.1,p.D85A|uc002wpw.1,p.D85A|ENST00000360807,p.D85A|NM_001042576,p.D85A|NM_004587,p.D85A|ENST00000398782,p.D85A|ENST00000377807,p.D85A|ENST00000377813,p.D85A|uc021waw.1,p.D85A protein_coding, processed_transcript uc021waw.1 nonsynonymous SNV exon1 c.A254C p.D85A KKKEEKPNGKIPDHDPAPNVTVLLR KKKEEKPNGKIPAHDPAPNVTVLLR 10.0 4.0 - - 3775_20:17640899-17640899 T>G_KKKEEKPNGKIPAHDPAPNVTVLLR 0.0 1:181022802-181022802 G>A 1.0 3713 MELANOMA - - - - MR1 uc001gos.2,p.R233K|ENST00000367579,p.R280K|NM_001194999,p.R280K|NM_001195000,p.R233K|ENST00000367580,p.R325K|uc001goq.2,p.R325K|ENST00000282990,p.R233K|NM_001531,p.R325K|uc001gor.2,p.R280K retained_intron, protein_coding, processed_transcript uc001gos.2 nonsynonymous SNV exon5 c.G698A p.R233K IVLAGVGVLVWRRRPREQNGAIYLP IVLAGVGVLVWRKRPREQNGAIYLP 6.0 6.0 - - 3713_1:181022802-181022802 G>A_IVLAGVGVLVWRKRPREQNGAIYLP 0.0 3:121097680-121097680 G>A 0.0 2591 MELANOMA - - ID=COSM1636880;OCCURENCE=1(bone) - STXBP5L NM_014980,p.R789Q|uc003eec.4,p.R789Q|uc011bji.2,p.R765Q|ENST00000273666,p.R789Q|ENST00000471454,p.R765Q|ENST00000492541,p.R789Q|ENST00000472879,p.R765Q protein_coding, nonsense_mediated_decay uc011bji.2 nonsynonymous SNV exon21 c.G2294A p.R765Q KVNRWGPGRPPFRKAQSAACMEISL KVNRWGPGRPPFQKAQSAACMEISL 1.0 10.0 - - 2591_3:121097680-121097680 G>A_KVNRWGPGRPPFQKAQSAACMEISL 0.0 14:53331331-53331331 A>T 1.0 4155 MELANOMA - - - - FERMT2 ENST00000341590,p.Y464N|NM_006832,p.Y464N|uc001xad.3,p.Y464N|uc001xae.3,p.Y464N|ENST00000553373,p.Y464N|uc001xaf.3,p.Y464N|ENST00000395631,p.Y464N|NM_001135000,p.Y464N|NM_001134999,p.Y464N|ENST00000399304,p.Y464N|uc001xac.3,p.Y464N|ENST00000343279,p.Y464N|ENST00000554152,p.Y417N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001xaf.3 nonsynonymous SNV exon12 c.T1390A p.Y464N NEIWLRCDNEKQYAHWMAACRLASK NEIWLRCDNEKQNAHWMAACRLASK 10.0 8.0 - - 4155_14:53331331-53331331 A>T_NEIWLRCDNEKQNAHWMAACRLASK 0.0 10:61566739-61566739 T>A 1.0 4317 COLORECTAL - - - 1 CCDC6 uc001jks.4,p.R315S|ENST00000263102,p.R315S|NM_005436,p.R315S retained_intron, protein_coding uc001jks.4 nonsynonymous SNV exon6 c.A945T p.R315S RLQRKLQREMERREALCRQLSESES RLQRKLQREMERSEALCRQLSESES 7.0 3.0 - - 4317_10:61566739-61566739 T>A_RLQRKLQREMERSEALCRQLSESES 0.0 1:248039709-248039709 C>A 0.0 4281 COLORECTAL - - - - TRIM58 NM_015431,p.P460H|uc001ido.3,p.P460H|ENST00000366481,p.P460H protein_coding uc001ido.3 nonsynonymous SNV exon6 c.C1379A p.P460H FFICDATPLILPPTTIAGSGNWASR FFICDATPLILPHTTIAGSGNWASR 2.0 6.0 - - 4281_1:248039709-248039709 C>A_FFICDATPLILPHTTIAGSGNWASR 0.0 7:116550353-116550353 C>T 1.0 3713 MELANOMA - - - - CAPZA2 ENST00000458284,p.L165F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000458284 nonsynonymous SNV exon6 c.C493T p.L165F YNHSFNHSSGWHLENSGSLL YNHSFNHSSGWHFENSGSLL 9.0 8.0 - - 3713_7:116550353-116550353 C>T_YNHSFNHSSGWHFENSGSLL 0.0 6:29571438-29571438 C>T 0.0 4345 COLORECTAL - - ID=COSM184854;OCCURENCE=1(large_intestine) - GABBR1 uc003nmu.4,p.R861H|ENST00000377016,p.R861H|NM_021904,p.R861H|ENST00000377012,p.R806H|ENST00000377034,p.R923H|uc011dlr.2,p.R746H|uc003nmt.4,p.R923H|uc003nmp.4,p.R806H|ENST00000355973,p.R806H|NM_001470,p.R923H|uc003nms.4,p.R806H|NM_021903,p.R806H retained_intron, protein_coding, nonsense_mediated_decay uc011dlr.2 nonsynonymous SNV exon23 c.G2237A p.R746H ELRHQLQSRQQLRSRRHPPTPPEPS ELRHQLQSRQQLHSRRHPPTPPEPS 5.0 6.0 - - 4345_6:29571438-29571438 C>T_ELRHQLQSRQQLHSRRHPPTPPEPS 0.0 9:35091403-35091403 C>A 0.0 4298 COLORECTAL - - - - PIGO ENST00000378617,p.Q827H|NM_032634,p.Q827H|uc003zwg.2,p.Q390H|ENST00000341666,p.Q827H|uc003zwd.3,p.Q827H protein_coding, processed_transcript uc003zwg.2 nonsynonymous SNV exon3 c.G1170T p.Q390H TKSQGPLTVAAYQLGSVYSAAMVTA TKSQGPLTVAAYHLGSVYSAAMVTA 7.0 4.0 - - 4298_9:35091403-35091403 C>A_TKSQGPLTVAAYHLGSVYSAAMVTA 0.0 20:57415359-57415359 C>G 0.0 4240 BREAST - - - 1 GNAS NM_016592,p.N66K|ENST00000371075,p.N66K|ENST00000313949,p.N66K|uc021wfm.1,p.N66K|uc021wfl.1,p.N66K|ENST00000371098,p.N66K retained_intron, protein_coding, processed_transcript uc021wfm.1 nonsynonymous SNV exon1 c.C198G p.N66K QRAAAQQRRSFLNAHHRSGAQVFPE QRAAAQQRRSFLKAHHRSGAQVFPE 10.0 1.0 - - 4240_20:57415359-57415359 C>G_QRAAAQQRRSFLKAHHRSGAQVFPE 0.0 2:231937117-231937117 C>T 1.0 4134 NSCLC - - - - PSMD1 uc002vrm.2,p.S290L|uc002vrn.2,p.S290L|uc010fxu.2,p.S154L|NM_002807,p.S290L|NM_001191037,p.S290L|ENST00000308696,p.S290L|ENST00000409643,p.S290L|ENST00000373635,p.S290L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010fxu.2 nonsynonymous SNV exon6 c.C461T p.S154L VPGSTNTGTVPGSEKDSDSMETEEK VPGSTNTGTVPGLEKDSDSMETEEK 10.0 1.0 - - 4134_2:231937117-231937117 C>T_VPGSTNTGTVPGLEKDSDSMETEEK 0.0 7:88965273-88965273 C>G 0.0 4326 BREAST - - - - ZNF804B NM_181646,p.Q993E|ENST00000333190,p.Q993E|uc011khi.2,p.Q993E protein_coding uc011khi.2 nonsynonymous SNV exon4 c.C2977G p.Q993E EKIQYASESRNDQDSAIPRTTEKDK EKIQYASESRNDEDSAIPRTTEKDK 2.0 9.0 - - 4326_7:88965273-88965273 C>G_EKIQYASESRNDEDSAIPRTTEKDK 0.0 17:9765348-9765348 A>C 0.0 4326 BREAST - - - - GLP2R NM_004246,p.T333P|ENST00000574745,p.T153P|uc002gmd.1,p.T333P|ENST00000262441,p.T333P protein_coding, nonsense_mediated_decay uc002gmd.1 nonsynonymous SNV exon9 c.A997C p.T333P ARAHLENTGCWTTNGNKKIWWIIRG ARAHLENTGCWTPNGNKKIWWIIRG 3.0 2.0 - - 4326_17:9765348-9765348 A>C_ARAHLENTGCWTPNGNKKIWWIIRG 0.0 9:91083415-91083415 A>G 1.0 3713 MELANOMA - - ID=COSM1674603;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) - SPIN1 uc004apz.3,p.M162V|uc010mqk.3,p.M162V|uc004apy.3,p.M162V|uc010mqj.3,p.M162V|ENST00000541629,p.M162V|ENST00000375859,p.M162V|NM_006717,p.M162V protein_coding, processed_transcript uc010mqk.3 nonsynonymous SNV exon6 c.A484G p.M162V EWRGMVLARAPVMNTWFYITYEKDP EWRGMVLARAPVVNTWFYITYEKDP 9.0 8.0 - - 3713_9:91083415-91083415 A>G_EWRGMVLARAPVVNTWFYITYEKDP 0.0 9:26935132-26935132 T>C 1.0 4180 BREAST - - - - PLAA ENST00000397292,p.I74M|NM_001031689,p.I74M|uc003zqe.2,p.I74M|ENST00000520884,p.I74M|uc003zqd.3,p.I74M retained_intron, protein_coding, processed_transcript uc003zqe.2 nonsynonymous SNV exon2 c.A222G p.I74M SGHSNFVSCVCIIPSSDIYPHGLIA SGHSNFVSCVCIMPSSDIYPHGLIA 9.0 8.0 - - 4180_9:26935132-26935132 T>C_SGHSNFVSCVCIMPSSDIYPHGLIA 0.0 19:21476293-21476293 G>A 0.0 4246 COLORECTAL - - - - ZNF708 ENST00000356929,p.T492I|uc002npr.1,p.T428I|uc002npq.1,p.T492I|NM_001297560,p.T428I|uc010ecs.1,p.T428I|NM_021269,p.T492I|NM_001297561,p.T428I protein_coding, nonsense_mediated_decay uc010ecs.1 nonsynonymous SNV exon4 c.C1283T p.T428I ECGKSFILSSHLTTHKIIHTGEKPY ECGKSFILSSHLITHKIIHTGEKPY 8.0 9.0 - - 4246_19:21476293-21476293 G>A_ECGKSFILSSHLITHKIIHTGEKPY 0.0 1:8420238-8420238 G>A 1.0 3713 MELANOMA - - - - RERE ENST00000337907,p.P1110L|ENST00000476556,p.P556L|uc010nzx.1,p.P842L|NM_012102,p.P1110L|uc001ape.3,p.P1110L|NM_001042682,p.P556L|NM_001042681,p.P1110L|uc001apd.3,p.P556L|ENST00000400908,p.P1110L|ENST00000377464,p.P842L|uc001apf.3,p.P1110L retained_intron, protein_coding, processed_transcript, non_stop_decay uc010nzx.1 nonsynonymous SNV exon12 c.C2525T p.P842L LDDAEEPESPPPPPRSPSPEPTVVD LDDAEEPESPPPLPRSPSPEPTVVD 7.0 9.0 - - 3713_1:8420238-8420238 G>A_LDDAEEPESPPPLPRSPSPEPTVVD 0.0 X:595431-595431 G>A 0.0 4235 COLORECTAL - - - - SHOX uc004cph.1,p.R119H|ENST00000381575,p.R119H|uc004cpi.3,p.R119H|ENST00000334060,p.R119H|NM_006883,p.R119H|ENST00000381578,p.R119H|ENST00000554971,p.R119H|NM_000451,p.R119H protein_coding, nonsense_mediated_decay uc004cpi.3 nonsynonymous SNV exon3 c.G356A p.R119H EDEDGQTKLKQRRSRTNFTLEQLNE EDEDGQTKLKQRHSRTNFTLEQLNE 1.0 9.0 - - 4235_X:595431-595431 G>A_EDEDGQTKLKQRHSRTNFTLEQLNE 0.0 6:42832567-42832567 C>T 1.0 3713 MELANOMA - - - - GLTSCR1L uc003osp.1,p.H875Y|NM_015349,p.H875Y|ENST00000394168,p.H875Y|ENST00000314073,p.H875Y|uc003osn.1,p.H875Y|uc011duw.1,p.H875Y protein_coding uc011duw.1 nonsynonymous SNV exon12 c.C2623T p.H875Y DRAKTGVTEPMNHDQFHLVPNHIVV DRAKTGVTEPMNYDQFHLVPNHIVV 6.0 9.0 - - 3713_6:42832567-42832567 C>T_DRAKTGVTEPMNYDQFHLVPNHIVV 0.0 10:14050072-14050072 C>T 0.0 4345 COLORECTAL - - - - FRMD4A uc001imu.1,p.R27H|ENST00000342409,p.R27H protein_coding, processed_transcript uc001imu.1 nonsynonymous SNV exon1 c.G80A p.R27H LLLKIPYGSLRRRSVERMTEGRRCQ LLLKIPYGSLRRHSVERMTEGRRCQ 6.0 10.0 - - 4345_10:14050072-14050072 C>T_LLLKIPYGSLRRHSVERMTEGRRCQ 0.0 1:230895368-230895368 C>T 0.0 3903 MELANOMA - - - - CAPN9 uc001hua.1,p.H132Y|uc001htz.1,p.H132Y|NM_006615,p.H132Y|NM_016452,p.H132Y|ENST00000354537,p.H132Y|ENST00000271971,p.H132Y protein_coding, processed_transcript uc001hua.1 nonsynonymous SNV exon3 c.C394T p.H132Y DQSFGPGYAGIFHFQFWQHSEWLDV DQSFGPGYAGIFYFQFWQHSEWLDV 1.0 7.0 - - 3903_1:230895368-230895368 C>T_DQSFGPGYAGIFYFQFWQHSEWLDV 0.0 1:39987206-39987206 G>A 1.0 3879 MELANOMA - - - - BMP8A ENST00000331593,p.E278K|uc001cdi.3,p.E278K|NM_181809,p.E278K protein_coding uc001cdi.3 nonsynonymous SNV exon4 c.G832A p.E278K RPLRRRQPKKSNELPQANRLPGIFD RPLRRRQPKKSNKLPQANRLPGIFD 5.0 1.0 - - 3879_1:39987206-39987206 G>A_RPLRRRQPKKSNKLPQANRLPGIFD 0.0 2:209292995-209292995 G>A 0.0 3903 MELANOMA - - - - PTH2R uc010zjb.2,p.E60K|ENST00000272847,p.E49K|NM_005048,p.E49K|uc002vdb.4,p.E49K protein_coding, processed_transcript, nonsense_mediated_decay uc010zjb.2 nonsynonymous SNV exon2 c.G178A p.E60K QIVLVLKAKVQCELNITAQLQEGEG QIVLVLKAKVQCKLNITAQLQEGEG 1.0 8.0 - - 3903_2:209292995-209292995 G>A_QIVLVLKAKVQCKLNITAQLQEGEG 0.0 20:5283051-5283051 G>A 0.0 3795 MELANOMA 0.0005 - - - PROKR2 ENST00000546004,p.R264C|uc010zqw.2,p.R264C|uc010zqy.2,p.R264C|NM_144773,p.R264C|ENST00000217270,p.R264C|uc010zqx.2,p.R264C protein_coding uc010zqy.2 nonsynonymous SNV exon3 c.C790T p.R264C FKAVPGFQTEQIRKRLRCRRKTVLV FKAVPGFQTEQICKRLRCRRKTVLV 1.0 6.0 - - 3795_20:5283051-5283051 G>A_FKAVPGFQTEQICKRLRCRRKTVLV 0.0 10:99118345-99118345 C>G 1.0 4326 BREAST - - - - RRP12 ENST00000315563,p.R1147P|uc009xvm.3,p.R965P|ENST00000536831,p.R965P|uc010qou.2,p.R1186P|uc009xvn.3,p.R1147P|uc001knf.3,p.R1247P|NM_001284337,p.R1147P|ENST00000414986,p.R1186P|NM_015179,p.R1247P|NM_001145114,p.R1186P|uc001kne.3,p.R262P|uc009xvl.3,p.R364P|ENST00000370992,p.R1247P protein_coding, processed_transcript uc010qou.2 nonsynonymous SNV exon31 c.G3557C p.R1186P AKKAKGDVKKKGRPDPYAYIPLNRS AKKAKGDVKKKGPPDPYAYIPLNRS 7.0 3.0 - - 4326_10:99118345-99118345 C>G_AKKAKGDVKKKGPPDPYAYIPLNRS 0.0 19:35793590-35793590 G>A 0.0 4158 COLORECTAL - - - - MAG uc002nyx.2,p.A404T|ENST00000392213,p.A404T|NM_001199216,p.A379T|ENST00000361922,p.A404T|NM_002361,p.A404T|uc002nyz.2,p.A404T|NM_080600,p.A404T|ENST00000537831,p.A379T|uc010eds.2,p.A379T|uc002nyy.2,p.A404T retained_intron, protein_coding, processed_transcript uc010eds.2 nonsynonymous SNV exon7 c.G1135A p.A379T CVAENQYGQRATAFNLSVEFAPVLL CVAENQYGQRATTFNLSVEFAPVLL 3.0 3.0 - - 4158_19:35793590-35793590 G>A_CVAENQYGQRATTFNLSVEFAPVLL 0.0 X:65476043-65476045 TTG>- 1.0 4287 COLORECTAL - - - - HEPH NM_014799,p.656_656del|NM_001130860,p.926_926del|NM_001282141,p.734_734del|ENST00000419594,p.734_734del|ENST00000374727,p.926_926del|uc004dwo.3,p.656_656del|ENST00000343002,p.923_923del|ENST00000519389,p.977_977del|uc011mpa.2,p.926_926del|ENST00000336279,p.656_656del|uc011moz.2,p.977_977del|uc004dwn.3,p.926_926del|uc010nks.3,p.215_215del|uc010nkr.3,p.734_734del|NM_138737,p.977_977del|ENST00000441993,p.926_926del retained_intron, protein_coding, nonsense_mediated_decay uc011mpa.2 nonframeshift deletion exon16 c.2776_2778del p.926_926del HGGRSDMDREFALLFLIFDENKSWY HGGRSDMDREFALFLIFDENKSWYL 9.0 3.0 - - 4287_X:65476043-65476045 TTG>-_HGGRSDMDREFALFLIFDENKSWYL 0.0 19:3062756-3062756 C>T 1.0 3716 MELANOMA - - - - AES NM_198969,p.R57Q|ENST00000221561,p.R57Q|uc002lxb.1,p.R57Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002lxb.1 nonsynonymous SNV exon1 c.G170A p.R57Q PGRATAGPAASTRAAGSLFFDRWGN PGRATAGPAASTQAAGSLFFDRWGN 10.0 8.0 - - 3716_19:3062756-3062756 C>T_PGRATAGPAASTQAAGSLFFDRWGN 0.0 1:154033515-154033515 G>A 0.0 4301 MELANOMA - - - - NUP210L NM_207308,p.S884F|ENST00000271854,p.S884F|NM_001159484,p.S884F|uc001fdw.3,p.S884F|uc010peh.2,p.S884F|ENST00000368559,p.S884F protein_coding uc010peh.2 nonsynonymous SNV exon19 c.C2651T p.S884F VGYSEKKSPKEISNLPRSVDVELLL VGYSEKKSPKEIFNLPRSVDVELLL 2.0 10.0 - - 4301_1:154033515-154033515 G>A_VGYSEKKSPKEIFNLPRSVDVELLL 0.0 16:31476373-31476373 C>T 1.0 3713 MELANOMA - - ID=COSN160428;OCCURENCE=1(NS) - ARMC5 NM_024742,p.P677S|uc002eca.4,p.P677S|ENST00000457010,p.P677S retained_intron, protein_coding, nonsense_mediated_decay uc002eca.4 nonsynonymous SNV exon4 c.C2029T p.P677S SPEWGGEQGVPVPPWAHRQSSAVSS SPEWGGEQGVPVSPWAHRQSSAVSS 4.0 2.0 - - 3713_16:31476373-31476373 C>T_SPEWGGEQGVPVSPWAHRQSSAVSS 0.0 13:99340519-99340519 A>T 0.0 4246 COLORECTAL - - - - SLC15A1 uc001vno.3,p.Y556N|NM_005073,p.Y556N|ENST00000376503,p.Y556N protein_coding uc001vno.3 nonsynonymous SNV exon20 c.T1666A p.Y556N NTFYLEFGSAYTYIVQRKNDSCPEV NTFYLEFGSAYTNIVQRKNDSCPEV 3.0 5.0 - - 4246_13:99340519-99340519 A>T_NTFYLEFGSAYTNIVQRKNDSCPEV 0.0 7:116339255-116339255 G>A 1.0 3713 MELANOMA - - - 1 MET ENST00000436117,p.M39I|uc011knb.1,p.M39I|ENST00000456159,p.M58I|uc011kng.1,p.M39I|uc010lkh.3,p.M39I|uc011knf.2,p.M39I|uc003vij.3,p.M39I|uc010lkg.3,p.M39I|NM_000245,p.M39I|uc011kne.2,p.M39I|uc011kni.2,p.M39I|uc011knh.1,p.M39I|uc011kmz.1,p.M39I|NM_001127500,p.M39I|uc022akk.1,p.M39I|uc011kna.1,p.M39I|uc011knd.2,p.M39I|uc003vii.1,p.M58I|ENST00000397752,p.M39I|ENST00000318493,p.M39I|uc011knc.1,p.M39I protein_coding, processed_transcript uc022akk.1 nonsynonymous SNV exon2 c.G117A p.M39I KEALAKSEMNVNMKYQLPNFTAETP KEALAKSEMNVNIKYQLPNFTAETP 2.0 6.0 - - 3713_7:116339255-116339255 G>A_KEALAKSEMNVNIKYQLPNFTAETP 0.0 1:28354414-28354414 G>A 1.0 4189 MELANOMA - - - - EYA3 ENST00000373871,p.P129S|ENST00000545175,p.P76S|uc010ofs.2,p.P76S|NM_001990,p.P129S|uc001bpi.2,p.P129S|NM_001282562,p.P76S protein_coding, processed_transcript uc010ofs.2 nonsynonymous SNV exon6 c.C226T p.P76S LPPFGALWPGMKPESGLIQTPSPSQ LPPFGALWPGMKSESGLIQTPSPSQ 9.0 8.0 - - 4189_1:28354414-28354414 G>A_LPPFGALWPGMKSESGLIQTPSPSQ 0.0 7:92733855-92733855 G>T 1.0 4287 COLORECTAL - - - - SAMD9 uc022ahg.1,p.S519Y|NM_001193307,p.S519Y|uc003umf.3,p.S519Y|uc003umg.3,p.S519Y|ENST00000379958,p.S519Y|NM_017654,p.S519Y|ENST00000446617,p.S519Y protein_coding uc022ahg.1 nonsynonymous SNV exon1 c.C1556A p.S519Y PFDPSSWQRERASDVRKLISFLTHE PFDPSSWQRERAYDVRKLISFLTHE 7.0 2.0 - - 4287_7:92733855-92733855 G>T_PFDPSSWQRERAYDVRKLISFLTHE 0.0 22:28193240-28193240 C>T 0.0 3795 MELANOMA - - - 1 MN1 ENST00000302326,p.A1098T|uc003adj.3,p.A1098T|NM_002430,p.A1098T protein_coding, processed_transcript, nonsense_mediated_decay uc003adj.3 nonsynonymous SNV exon1 c.G3292A p.A1098T PRGVGAGEHGPKAPPPALGLGIMSN PRGVGAGEHGPKTPPPALGLGIMSN 4.0 2.0 - - 3795_22:28193240-28193240 C>T_PRGVGAGEHGPKTPPPALGLGIMSN 0.0 1:92428435-92428435 G>A 0.0 4301 MELANOMA - - - - BRDT uc001dok.4,p.D42N|uc001dol.4,p.D42N|NM_001242807,p.D42N|ENST00000426141,p.D42N|ENST00000450792,p.D42N|uc010otb.2,p.D42N|NM_001242808,p.D42N|NM_001242805,p.D42N|ENST00000423434,p.D42N|ENST00000548992,p.D42N|uc010osz.2,p.D42N|ENST00000440509,p.D42N|ENST00000394530,p.D42N|NM_001242806,p.D42N|ENST00000399546,p.D42N|ENST00000362005,p.D42N|ENST00000402388,p.D42N|uc010ota.2,p.D42N|ENST00000427104,p.D42N|ENST00000448194,p.D42N|NM_207189,p.D42N|uc001dom.4,p.D42N|NM_001726,p.D42N protein_coding, processed_transcript uc010otb.2 nonsynonymous SNV exon2 c.G124A p.D42N NQLQYLQKVVLKDLWKHSFSWPFQR NQLQYLQKVVLKNLWKHSFSWPFQR 2.0 8.0 - - 4301_1:92428435-92428435 G>A_NQLQYLQKVVLKNLWKHSFSWPFQR 0.0 5:112175193-112175193 C>- 1.0 4196 COLORECTAL - - ID=COSM300845;OCCURENCE=1(large_intestine) 1 APC ENST00000257430,p.T1301fs|NM_001127511,p.T1283fs|NM_001127510,p.T1301fs|NM_000038,p.T1301fs|uc011cvt.2,p.T1283fs|ENST00000512211,p.T1301fs|ENST00000508376,p.T1301fs|uc010jbz.3,p.T1018fs|ENST00000457016,p.T1301fs|uc003kpz.4,p.T1301fs|uc003kpy.4,p.T1301fs|uc010jca.3,p.T601fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cvt.2 frameshift deletion exon14 c.3848delC p.T1283fs CNQTTQEADSANTLQIAEIKEKIGT CNQTTQEADSANTCK 9.0 8.0 - - 4196_5:112175193-112175193 C>-_CNQTTQEADSANTCK 0.0 1:111060362-111060362 G>A 0.0 4298 COLORECTAL 0.0005 - - - KCNA10 ENST00000369771,p.R350C|uc001dzt.1,p.R350C|NM_005549,p.R350C protein_coding uc001dzt.1 nonsynonymous SNV exon1 c.C1048T p.R350C AILRIIRLVRVFRIFKLSRHSKGLQ AILRIIRLVRVFCIFKLSRHSKGLQ 1.0 10.0 - - 4298_1:111060362-111060362 G>A_AILRIIRLVRVFCIFKLSRHSKGLQ 0.0 8:116599500-116599500 C>A 0.0 4258 ENDOMETRIAL - - - - TRPS1 ENST00000395715,p.A810S|NM_001282903,p.A803S|uc011lhy.2,p.A801S|ENST00000220888,p.A797S|NM_014112,p.A810S|uc010mcy.3,p.A797S|NM_001282902,p.A801S|uc003ynz.3,p.A797S|ENST00000519076,p.A551S|ENST00000519674,p.A797S|ENST00000520276,p.A801S|ENST00000517323,p.A601S|uc003yny.3,p.A810S protein_coding, nonsense_mediated_decay uc011lhy.2 nonsynonymous SNV exon4 c.G2401T p.A801S SSDDLRNVTWRGADILRGSPSYTQA SSDDLRNVTWRGSDILRGSPSYTQA 7.0 6.0 - - 4258_8:116599500-116599500 C>A_SSDDLRNVTWRGSDILRGSPSYTQA 0.0 18:71797657-71797657 G>A 0.0 4266 COLORECTAL - - - - FBXO15 NM_152676,p.A114V|ENST00000419743,p.A190V|ENST00000269500,p.A114V|NM_001142958,p.A190V|uc002lle.2,p.A114V|uc002llf.2,p.A190V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002llf.2 nonsynonymous SNV exon4 c.C569T p.A190V NPYTGLPVKTKEALRIFGLGWAIIL NPYTGLPVKTKEVLRIFGLGWAIIL 3.0 2.0 - - 4266_18:71797657-71797657 G>A_NPYTGLPVKTKEVLRIFGLGWAIIL 0.0 4:90816156-90816156 A>T 0.0 4258 ENDOMETRIAL - - - - MMRN1 uc010iku.3,p.S12C|ENST00000394981,p.S12C|uc003hst.3,p.S12C|NM_007351,p.S12C|ENST00000264790,p.S12C|ENST00000394980,p.S12C retained_intron, protein_coding uc010iku.3 nonsynonymous SNV exon1 c.A34T p.S12C MKGARLFVLLSSLWSGGIGLNNSK MKGARLFVLLSCLWSGGIGLNNSK 3.0 10.0 - - 4258_4:90816156-90816156 A>T_MKGARLFVLLSCLWSGGIGLNNSK 0.0 13:36367569-36367569 C>G 0.0 4316 COLORECTAL - - - - DCLK1 ENST00000255448,p.K664N|NM_004734,p.K664N|NM_001195415,p.K357N|uc001uve.4,p.K357N|uc010teh.2,p.K357N|uc001uvf.3,p.K664N|ENST00000379893,p.K357N|ENST00000360631,p.K664N|uc010abk.3,p.K184N|NM_001195416,p.K357N protein_coding, processed_transcript uc010teh.2 nonsynonymous SNV exon12 c.G1071C p.K357N LPENEHQLSVAGKIKKHFNTGPKPN LPENEHQLSVAGNIKKHFNTGPKPN 2.0 5.0 - - 4316_13:36367569-36367569 C>G_LPENEHQLSVAGNIKKHFNTGPKPN 0.0 19:18245518-18245518 G>C 1.0 4252 COLORECTAL - - - - MAST3 NM_015016,p.K538N|ENST00000262811,p.K538N|uc002nhz.4,p.K538N retained_intron, protein_coding uc002nhz.4 nonsynonymous SNV exon15 c.G1614C p.K538N GHIEKDAREFIDKQVCGTPEYIAPE GHIEKDAREFIDNQVCGTPEYIAPE 7.0 8.0 - - 4252_19:18245518-18245518 G>C_GHIEKDAREFIDNQVCGTPEYIAPE 0.0 14:95932330-95932330 C>T 0.0 4235 COLORECTAL 0.0005 - - - SYNE3 uc001yej.1,p.V189M|uc010avi.3,p.V189M|ENST00000557275,p.V189M|ENST00000553340,p.V189M|uc001yei.4,p.V189M|ENST00000334258,p.V189M|NM_152592,p.V189M retained_intron, protein_coding uc010avi.3 nonsynonymous SNV exon3 c.G565A p.V189M AASLFNRIGDPSVDEDAQKRMKAEY AASLFNRIGDPSMDEDAQKRMKAEY 4.0 6.0 - - 4235_14:95932330-95932330 C>T_AASLFNRIGDPSMDEDAQKRMKAEY 0.0 10:98714868-98714868 T>G 1.0 4301 MELANOMA - - - - LCOR ENST00000356016,p.L164R|uc001kms.2,p.L164R|ENST00000371097,p.L164R|NM_032440,p.L164R|NM_001170766,p.L164R|ENST00000371103,p.L164R|ENST00000540664,p.L164R|uc001kmr.3,p.L164R|NM_001170765,p.L164R|uc001kmu.2,p.L164R protein_coding, processed_transcript uc001kmu.2 nonsynonymous SNV exon8 c.T491G p.L164R PLARSLQISEELLSRNQLSTAASLG PLARSLQISEELRSRNQLSTAASLG 8.0 3.0 - - 4301_10:98714868-98714868 T>G_PLARSLQISEELRSRNQLSTAASLG 0.0 4:57876584-57876584 C>T 1.0 3713 MELANOMA - - - - POLR2B uc011caf.1,p.P413S|uc011cae.1,p.P481S|ENST00000431623,p.P413S|ENST00000381227,p.P488S|NM_000938,p.P488S|ENST00000314595,p.P488S|uc003hcl.1,p.P488S|ENST00000441246,p.P481S retained_intron, protein_coding, processed_transcript uc011caf.1 nonsynonymous SNV exon10 c.C1237T p.P413S ASTLSHLRRLNSPIGRDGKLAKPRQ ASTLSHLRRLNSSIGRDGKLAKPRQ 9.0 6.0 - - 3713_4:57876584-57876584 C>T_ASTLSHLRRLNSSIGRDGKLAKPRQ 0.0 16:30991504-30991504 T>G 1.0 4000 MELANOMA - - - - SETD1A ENST00000262519,p.V1466G|NM_014712,p.V1466G|uc002ead.1,p.V1466G protein_coding uc002ead.1 nonsynonymous SNV exon14 c.T4397G p.V1466G TSGADWLNDTHWVHHTITNLTTPKR TSGADWLNDTHWGHHTITNLTTPKR 6.0 10.0 - - 4000_16:30991504-30991504 T>G_TSGADWLNDTHWGHHTITNLTTPKR 0.0 7:143556243-143556243 C>A 0.0 4275 COLORECTAL - - - - FAM115A ENST00000355951,p.A727S|uc011ktu.2,p.A303S|ENST00000479870,p.A727S|uc003wdo.2,p.A727S|NM_001206941,p.A303S|NM_014719,p.A727S|NM_001206938,p.A727S|uc003wdp.2,p.A727S protein_coding, processed_transcript uc011ktu.2 nonsynonymous SNV exon6 c.G907T p.A303S VADVQISVGWMHAGYPIMCHLESVQ VADVQISVGWMHSGYPIMCHLESVQ 9.0 2.0 - - 4275_7:143556243-143556243 C>A_VADVQISVGWMHSGYPIMCHLESVQ 0.0 19:4013176-4013176 G>A 1.0 4095 COLORECTAL - - - - PIAS4 uc002lzg.3,p.A95T|ENST00000262971,p.A95T|NM_015897,p.A95T retained_intron, protein_coding, processed_transcript uc002lzg.3 nonsynonymous SNV exon2 c.G283A p.A95T PLTMHSTYDRAGAVPRTPLAGPNID PLTMHSTYDRAGTVPRTPLAGPNID 9.0 7.0 - - 4095_19:4013176-4013176 G>A_PLTMHSTYDRAGTVPRTPLAGPNID 0.0 19:58491633-58491633 G>A 1.0 2369 MELANOMA - - - - ZNF606 uc010yhp.2,p.L49F|uc002qqw.3,p.L139F|ENST00000536132,p.L49F|ENST00000341164,p.L139F|ENST00000551380,p.L139F|NM_025027,p.L139F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010yhp.2 nonsynonymous SNV exon6 c.C145T p.L49F CPQRTCPEWVRNLESKALIPAQSIF CPQRTCPEWVRNFESKALIPAQSIF 6.0 7.0 - - 2369_19:58491633-58491633 G>A_CPQRTCPEWVRNFESKALIPAQSIF 0.0 14:81953756-81953756 C>G 1.0 4335 COLORECTAL - - ID=COSM1225109;OCCURENCE=1(large_intestine) - SEL1L NM_005065,p.R537P|uc010tvv.2,p.R537P|ENST00000336735,p.R537P retained_intron, protein_coding uc010tvv.2 nonsynonymous SNV exon16 c.G1610C p.R537P LAQMHASGTGVMRSCHTAVELFKNV LAQMHASGTGVMPSCHTAVELFKNV 8.0 8.0 - - 4335_14:81953756-81953756 C>G_LAQMHASGTGVMPSCHTAVELFKNV 0.0 8:88885470-88885470 G>A 0.0 4235 COLORECTAL - - - - DCAF4L2 ENST00000319675,p.R244C|uc003ydz.3,p.R244C|NM_152418,p.R244C protein_coding uc003ydz.3 nonsynonymous SNV exon1 c.C730T p.R244C FAIMTPLLFNGCRSGEIFGIDLRCG FAIMTPLLFNGCCSGEIFGIDLRCG 1.0 2.0 - - 4235_8:88885470-88885470 G>A_FAIMTPLLFNGCCSGEIFGIDLRCG 0.0 5:140011962-140011962 C>T 1.0 4186 BREAST - - - - CD14 NM_001040021,p.D203N|ENST00000302014,p.D203N|NM_000591,p.D203N|uc021yej.1,p.D203N|uc003lgi.2,p.D203N|NM_001174105,p.D203N|NM_001174104,p.D203N|uc021yek.1,p.D203N|uc003lgj.2,p.D203N|ENST00000401743,p.D203N|uc021yel.1,p.D72N protein_coding uc021yel.1 nonsynonymous SNV exon1 c.G214A p.D72N RAFPALTSLDLSDNPGLGERGLMAA RAFPALTSLDLSNNPGLGERGLMAA 9.0 5.0 - - 4186_5:140011962-140011962 C>T_RAFPALTSLDLSNNPGLGERGLMAA 0.0 1:229730481-229730481 A>T 1.0 4345 COLORECTAL - - - - TAF5L uc001htq.3,p.S445T|NM_014409,p.S445T|ENST00000258281,p.S445T|ENST00000366676,p.S445T protein_coding, processed_transcript uc001htq.3 nonsynonymous SNV exon5 c.T1333A p.S445T KFHPNSNYLATGSTDKTVRLWSAQQ KFHPNSNYLATGTTDKTVRLWSAQQ 6.0 2.0 - - 4345_1:229730481-229730481 A>T_KFHPNSNYLATGTTDKTVRLWSAQQ 0.0 1:160326901-160326901 G>C 1.0 4335 COLORECTAL - - - - NCSTN NM_001290186,p.R484P|uc010pjf.2,p.R484P|ENST00000294785,p.R622P|ENST00000535857,p.R484P|uc010pjg.2,p.R364P|ENST00000368065,p.R364P|ENST00000368063,p.R602P|ENST00000392212,p.R602P|uc001fvx.3,p.R622P|NM_001290184,p.R602P|NM_015331,p.R622P|uc001fvy.3,p.R602P protein_coding, processed_transcript uc010pjg.2 nonsynonymous SNV exon11 c.G1091C p.R364P HSNETDRLPRCVRSTARLARALSPA HSNETDRLPRCVPSTARLARALSPA 10.0 4.0 - - 4335_1:160326901-160326901 G>C_HSNETDRLPRCVPSTARLARALSPA 0.0 3:48616679-48616679 C>T 0.0 4258 ENDOMETRIAL - - - - COL7A1 ENST00000328333,p.R1780Q|ENST00000454817,p.R1780Q|NM_000094,p.R1780Q|uc003ctz.2,p.R1780Q retained_intron, protein_coding, processed_transcript uc003ctz.2 nonsynonymous SNV exon61 c.G5339A p.R1780Q EKGDRGPPGLDGRSGLDGKPGAAGP EKGDRGPPGLDGQSGLDGKPGAAGP 9.0 2.0 - - 4258_3:48616679-48616679 C>T_EKGDRGPPGLDGQSGLDGKPGAAGP 0.0 17:67119536-67119536 C>T 0.0 4160 COLORECTAL - - - - ABCA6 NM_080284,p.R427H|ENST00000284425,p.R427H|uc002jhw.1,p.R427H retained_intron, protein_coding, processed_transcript uc002jhw.1 nonsynonymous SNV exon10 c.G1280A p.R427H LYFDKILPYGDERHYSPLFFLNSSS LYFDKILPYGDEHHYSPLFFLNSSS 5.0 10.0 - - 4160_17:67119536-67119536 C>T_LYFDKILPYGDEHHYSPLFFLNSSS 0.0 13:25021263-25021263 T>C 0.0 3795 MELANOMA - - - - PARP4 uc001upl.3,p.Q1059R|NM_006437,p.Q1059R|ENST00000381989,p.Q1059R retained_intron, protein_coding, processed_transcript uc001upl.3 nonsynonymous SNV exon26 c.A3176G p.Q1059R CSPSCHSVSVKWQQLNPDVPEALQA CSPSCHSVSVKWRQLNPDVPEALQA 8.0 1.0 - - 3795_13:25021263-25021263 T>C_CSPSCHSVSVKWRQLNPDVPEALQA 0.0 5:176675312-176675312 A>C 1.0 4317 COLORECTAL - - - 1 NSD1 uc011dfx.2,p.E1191A|uc003mfr.4,p.E1543A|ENST00000347982,p.E1274A|ENST00000361032,p.E1440A|NM_022455,p.E1543A|uc003mfs.1,p.E1440A|uc003mft.4,p.E1274A|ENST00000354179,p.E1274A|ENST00000439151,p.E1543A|NM_172349,p.E1274A retained_intron, protein_coding, nonsense_mediated_decay uc011dfx.2 nonsynonymous SNV exon12 c.A3572C p.E1191A MQGERGGGAALKENVCQNCEKLGEL MQGERGGGAALKANVCQNCEKLGEL 9.0 3.0 - - 4317_5:176675312-176675312 A>C_MQGERGGGAALKANVCQNCEKLGEL 0.0 3:123650034-123650034 C>T 1.0 4335 COLORECTAL - - - - CCDC14 uc003egv.4,p.E254K|NM_022757,p.E572K|ENST00000419247,p.E254K|ENST00000310351,p.E453K|ENST00000489746,p.E413K|uc010hrt.3,p.E572K|ENST00000409697,p.E594K|ENST00000433542,p.E572K|uc003egy.4,p.E413K|ENST00000485727,p.E413K|uc003egx.4,p.E413K|uc003egz.2,p.E413K|ENST00000488653,p.E613K|uc011bjx.2,p.E613K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bjx.2 nonsynonymous SNV exon12 c.G1837A p.E613K ALVNVKSSQFKLETAEKENQILGIT ALVNVKSSQFKLKTAEKENQILGIT 8.0 9.0 - - 4335_3:123650034-123650034 C>T_ALVNVKSSQFKLKTAEKENQILGIT 0.0 7:128489484-128489484 C>T 1.0 4266 COLORECTAL - - - - FLNC uc003voa.4,p.T1684M|uc003vnz.4,p.T1684M|NM_001127487,p.T1684M|ENST00000346177,p.T1684M|NM_001458,p.T1684M|ENST00000325888,p.T1684M retained_intron, protein_coding uc003voa.4 nonsynonymous SNV exon30 c.C5051T p.T1684M AAGEGKVTCTVSTPDGAELDVDVVE AAGEGKVTCTVSMPDGAELDVDVVE 7.0 10.0 - - 4266_7:128489484-128489484 C>T_AAGEGKVTCTVSMPDGAELDVDVVE 0.0 4:87607882-87607882 G>T 0.0 4149 OVARIAN - - - 1 PTPN13 uc003hpz.3,p.G105V|ENST00000427191,p.G105V|ENST00000502971,p.G105V|uc003hqa.3,p.G105V|NM_080684,p.G105V|NM_006264,p.G105V|ENST00000316707,p.G105V|ENST00000436978,p.G105V|ENST00000507902,p.G105V|NM_080685,p.G105V|ENST00000511467,p.G105V|uc003hqb.3,p.G105V|uc003hpy.3,p.G105V|NM_080683,p.G105V|ENST00000411767,p.G105V retained_intron, protein_coding uc003hqb.3 nonsynonymous SNV exon4 c.G314T p.G105V LSDVEKIHIYSLGMTLYWGADYEVP LSDVEKIHIYSLVMTLYWGADYEVP 5.0 7.0 - - 4149_4:87607882-87607882 G>T_LSDVEKIHIYSLVMTLYWGADYEVP 0.0 16:13328967-13328967 C>A 0.0 4326 BREAST - - - - SHISA9 uc010uyy.2,p.P326T|ENST00000558583,p.P367T|NM_001145204,p.P326T|ENST00000424107,p.P326T protein_coding, processed_transcript uc010uyy.2 nonsynonymous SNV exon5 c.C976A p.P326T AELAAKGNLPLHPVRVEDEPRAFSP AELAAKGNLPLHTVRVEDEPRAFSP 5.0 4.0 - - 4326_16:13328967-13328967 C>A_AELAAKGNLPLHTVRVEDEPRAFSP 0.0 15:85400937-85400937 G>C 0.0 4258 ENDOMETRIAL - - - - ALPK3 NM_020778,p.G1192R|uc002ble.3,p.G1192R|ENST00000258888,p.G1192R retained_intron, protein_coding uc002ble.3 nonsynonymous SNV exon6 c.G3574C p.G1192R AGGESQVGAATGGLVPSATLTPTVE AGGESQVGAATGRLVPSATLTPTVE 4.0 7.0 - - 4258_15:85400937-85400937 G>C_AGGESQVGAATGRLVPSATLTPTVE 0.0 16:3063874-3063874 G>A 0.0 2591 MELANOMA - - - - CLDN9 ENST00000445369,p.A171T|NM_020982,p.A171T|uc010uwo.1,p.A171T protein_coding uc010uwo.1 nonsynonymous SNV exon1 c.G511A p.A171T ELGASLYLGWAAAALLMLGGGLLCC ELGASLYLGWAATALLMLGGGLLCC 1.0 10.0 - - 2591_16:3063874-3063874 G>A_ELGASLYLGWAATALLMLGGGLLCC 0.0 5:180276265-180276265 G>A 1.0 3903 MELANOMA - - - - ZFP62 uc010jlk.3,p.L711F|NM_152283,p.L711F|uc021yjo.1,p.L711F|ENST00000502412,p.L744F|uc011dhe.2,p.L711F|ENST00000359141,p.L684F|uc011dhf.2,p.L744F|ENST00000512132,p.L711F|NM_001172638,p.L744F retained_intron, protein_coding, processed_transcript uc021yjo.1 nonsynonymous SNV exon1 c.C2131T p.L711F VECGKSFSYSSLLSQHKRIHTGEKP VECGKSFSYSSLFSQHKRIHTGEKP 7.0 1.0 - - 3903_5:180276265-180276265 G>A_VECGKSFSYSSLFSQHKRIHTGEKP 0.0 10:75548934-75548934 A>G 0.0 4245 COLORECTAL - - - - ZSWIM8 ENST00000433366,p.D148G|uc009xrl.3,p.D148G|uc001jvj.3,p.D148G|ENST00000604729,p.D148G|ENST00000603114,p.D148G|ENST00000398706,p.D148G|uc001jve.3,p.D148G|NM_001242488,p.D148G|NM_015037,p.D148G|NM_001242487,p.D148G|ENST00000605216,p.D148G|uc001jvf.3,p.D148G|ENST00000604524,p.D148G protein_coding, processed_transcript, nonsense_mediated_decay uc009xrl.3 nonsynonymous SNV exon3 c.A443G p.D148G RGDQLFRMRAVKDPLQIGFHLSATV RGDQLFRMRAVKGPLQIGFHLSATV 9.0 5.0 - - 4245_10:75548934-75548934 A>G_RGDQLFRMRAVKGPLQIGFHLSATV 0.0 6:125397806-125397806 C>T 1.0 3466 MELANOMA - - - - RNF217 uc003pzs.3,p.H137Y|ENST00000521654,p.H429Y|NM_001286398,p.H429Y|ENST00000560949,p.H194Y|ENST00000275184,p.H73Y|uc003pzr.3,p.H194Y|NM_152553,p.H137Y|ENST00000359704,p.H137Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003pzs.3 nonsynonymous SNV exon6 c.C409T p.H137Y QRNAQKCPKCKIHIQRTEGCDHMTC QRNAQKCPKCKIYIQRTEGCDHMTC 8.0 9.0 - - 3466_6:125397806-125397806 C>T_QRNAQKCPKCKIYIQRTEGCDHMTC 0.0 1:1247685-1247685 G>T 1.0 4326 BREAST - - - - CPSF3L uc009vjz.2,p.R488S|uc010nyj.2,p.R481S|NM_001256463,p.R409S|ENST00000435064,p.R510S|NM_017871,p.R510S|NM_001256456,p.R516S|uc001aeg.2,p.R386S|NM_001256462,p.R412S|NM_001256460,p.R481S|ENST00000540437,p.R516S|ENST00000450926,p.R488S|ENST00000545578,p.R481S|uc001aeh.2,p.R409S|uc001aef.2,p.R516S|ENST00000419704,p.R409S|ENST00000411962,p.R412S|uc001aei.2,p.R412S|uc001aek.2,p.R252S|uc001aee.2,p.R510S|ENST00000421495,p.R252S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010nyj.2 nonsynonymous SNV exon16 c.C1441A p.R481S ALKELGLAEHQLRFTCRVHLHDTRK ALKELGLAEHQLSFTCRVHLHDTRK 9.0 1.0 - - 4326_1:1247685-1247685 G>T_ALKELGLAEHQLSFTCRVHLHDTRK 0.0 17:18049351-18049351 G>A 0.0 3903 MELANOMA - - - - MYO15A ENST00000205890,p.G2147S|uc021trm.1,p.G2147S|NM_016239,p.G2147S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021trm.1 nonsynonymous SNV exon29 c.G6439A p.G2147S VWHNHNAHNAERGWLLLAACLSGFA VWHNHNAHNAERSWLLLAACLSGFA 2.0 5.0 - - 3903_17:18049351-18049351 G>A_VWHNHNAHNAERSWLLLAACLSGFA 0.0 11:111853103-111853103 G>A 1.0 4326 BREAST - - - - DIXDC1 ENST00000440460,p.G270E|ENST00000315253,p.G59E retained_intron, protein_coding, processed_transcript ENST00000440460 nonsynonymous SNV exon7 c.G809A p.G270E GTDSPLSRDWRPGPGTYLETSWEEQ GTDSPLSRDWRPEPGTYLETSWEEQ 8.0 7.0 - - 4326_11:111853103-111853103 G>A_GTDSPLSRDWRPEPGTYLETSWEEQ 0.0 17:54535320-54535320 G>A 0.0 4245 COLORECTAL - - - - ANKFN1 ENST00000318698,p.A516T|uc002iun.1,p.A516T|ENST00000566473,p.A516T|NM_153228,p.A516T retained_intron, protein_coding, processed_transcript uc002iun.1 nonsynonymous SNV exon13 c.G1546A p.A516T SSTVLQTRQKMLAATAQLQNLLGTH SSTVLQTRQKMLTATAQLQNLLGTH 4.0 10.0 - - 4245_17:54535320-54535320 G>A_SSTVLQTRQKMLTATAQLQNLLGTH 0.0 7:144098565-144098565 C>T 0.0 3775 CERVICAL - - - - NOBOX ENST00000467773,p.E140K|uc022aoj.1,p.E140K|ENST00000223140,p.E55K|ENST00000483238,p.E140K|NM_001080413,p.E140K protein_coding uc022aoj.1 nonsynonymous SNV exon4 c.G418A p.E140K SEELPPSCTISGEKKPPAVSGEATG SEELPPSCTISGKKKPPAVSGEATG 1.0 7.0 - - 3775_7:144098565-144098565 C>T_SEELPPSCTISGKKKPPAVSGEATG 0.0 X:129546340-129546340 A>C 0.0 4196 COLORECTAL - - - - RBMX2 ENST00000305536,p.K163Q|uc004evt.3,p.K163Q|NM_016024,p.K163Q protein_coding, processed_transcript uc004evt.3 nonsynonymous SNV exon6 c.A487C p.K163Q DEKPTKKHKKDKKEKKKKKKEKEKA DEKPTKKHKKDKQEKKKKKKEKEKA 8.0 8.0 - - 4196_X:129546340-129546340 A>C_DEKPTKKHKKDKQEKKKKKKEKEKA 0.0 19:49344429-49344429 G>A 0.0 4235 COLORECTAL - - - - PLEKHA4 uc002pkx.3,p.R628C|ENST00000263265,p.R628C|NM_020904,p.R628C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002pkx.3 nonsynonymous SNV exon17 c.C1882T p.R628C LLTLGRTLSPARRQPDVEQRPVVGH LLTLGRTLSPARCQPDVEQRPVVGH 6.0 1.0 - - 4235_19:49344429-49344429 G>A_LLTLGRTLSPARCQPDVEQRPVVGH 0.0 16:67315951-67315951 G>A 1.0 3775 CERVICAL - - - - PLEKHG4 NM_015432,p.A349T|uc010ceg.3,p.A268T|uc002eso.4,p.A349T|NM_001129727,p.A349T|NM_001129728,p.A349T|uc010cef.3,p.A349T|uc002ess.4,p.A349T|ENST00000450733,p.A268T|uc002esq.4,p.A349T|ENST00000427155,p.A349T|ENST00000379344,p.A349T|NM_001129729,p.A349T|ENST00000360461,p.A349T|NM_001129731,p.A268T|uc002esp.4,p.A156T retained_intron, protein_coding, nonsense_mediated_decay uc010ceg.3 nonsynonymous SNV exon6 c.G802A p.A268T LEALLQNCQAACALLQGAIESVKAV LEALLQNCQAACTLLQGAIESVKAV 8.0 9.0 - - 3775_16:67315951-67315951 G>A_LEALLQNCQAACTLLQGAIESVKAV 0.0 6:79752663-79752663 G>A 1.0 3784 MELANOMA - - - - PHIP uc011dyp.2,p.P166L|NM_017934,p.P166L|ENST00000275034,p.P166L|uc003pir.3,p.P166L protein_coding, processed_transcript uc011dyp.2 nonsynonymous SNV exon7 c.C497T p.P166L KLNGKYRLERLVPTAVYQHMKMHKR KLNGKYRLERLVLTAVYQHMKMHKR 7.0 9.0 - - 3784_6:79752663-79752663 G>A_KLNGKYRLERLVLTAVYQHMKMHKR 0.0 5:169509808-169509808 C>A 0.0 4316 COLORECTAL - - - - DOCK2 uc003maf.3,p.S1813R|uc003mah.3,p.S369R|NM_004946,p.S1813R|ENST00000540750,p.S874R|uc010jjm.3,p.S1305R|ENST00000256935,p.S1813R|ENST00000520908,p.S1305R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010jjm.3 nonsynonymous SNV exon38 c.C3915A p.S1305R KKVNQFFKTMLASKSAEEGKQIPDS KKVNQFFKTMLARKSAEEGKQIPDS 6.0 6.0 - - 4316_5:169509808-169509808 C>A_KKVNQFFKTMLARKSAEEGKQIPDS 0.0 18:48722969-48722969 G>C 1.0 4240 BREAST - - - - MEX3C ENST00000406189,p.S241C|uc002lfc.4,p.S241C|NM_016626,p.S241C protein_coding, processed_transcript uc002lfc.4 nonsynonymous SNV exon1 c.C722G p.S241C SVNTTECVPVPSSEHVAEIVGRQGC SVNTTECVPVPSCEHVAEIVGRQGC 7.0 9.0 - - 4240_18:48722969-48722969 G>C_SVNTTECVPVPSCEHVAEIVGRQGC 0.0 6:31779566-31779566 C>A 0.0 4129 NSCLC - - - - HSPA1L ENST00000417199,p.A62S|NM_005527,p.A62S|uc021yuz.1,p.A62S|uc010jte.3,p.A62S|uc003nxh.3,p.A62S|ENST00000375654,p.A62S protein_coding uc021yuz.1 nonsynonymous SNV exon1 c.G184T p.A62S ERLIGDAAKNQVAMNPQNTVFDAKR ERLIGDAAKNQVSMNPQNTVFDAKR 5.0 7.0 - - 4129_6:31779566-31779566 C>A_ERLIGDAAKNQVSMNPQNTVFDAKR 0.0 17:42452395-42452395 C>T 0.0 4235 COLORECTAL - - - - ITGA2B ENST00000353281,p.A938T retained_intron, protein_coding ENST00000353281 nonsynonymous SNV exon27 c.G2812A p.A938T MARGQRAMVTVLAFLWLPSLYQVWT MARGQRAMVTVLTFLWLPSLYQVWT 3.0 3.0 - - 4235_17:42452395-42452395 C>T_MARGQRAMVTVLTFLWLPSLYQVWT 0.0 9:14857595-14857595 T>A 1.0 4317 COLORECTAL - - - - FREM1 ENST00000422223,p.I262F|NM_144966,p.I262F|uc003zlm.3,p.I262F|ENST00000380880,p.I262F|ENST00000380881,p.I262F|ENST00000380875,p.I262F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003zlm.3 nonsynonymous SNV exon6 c.A784T p.I262F LDPPSPNIDYISIQLDLTDTRSKIV LDPPSPNIDYISFQLDLTDTRSKIV 6.0 10.0 - - 4317_9:14857595-14857595 T>A_LDPPSPNIDYISFQLDLTDTRSKIV 0.0 2:128072428-128072428 C>T 1.0 4246 COLORECTAL - - - - MAP3K2 NM_006609,p.G453D|uc002toj.2,p.G453D|ENST00000344908,p.G453D|ENST00000409947,p.G453D protein_coding uc002toj.2 nonsynonymous SNV exon14 c.G1358A p.G453D PGGSIKDQLKAYGALTENVTRKYTR PGGSIKDQLKAYDALTENVTRKYTR 7.0 8.0 - - 4246_2:128072428-128072428 C>T_PGGSIKDQLKAYDALTENVTRKYTR 0.0 8:121500491-121500491 T>C 0.0 4335 COLORECTAL - - - - MTBP ENST00000305949,p.S420P|uc003ypc.2,p.S420P|NM_022045,p.S420P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003ypc.2 nonsynonymous SNV exon12 c.T1258C p.S420P NGNRRCKATLIHSANQINGSFALNL NGNRRCKATLIHPANQINGSFALNL 5.0 4.0 - - 4335_8:121500491-121500491 T>C_NGNRRCKATLIHPANQINGSFALNL 0.0 1:23418880-23418880 T>G 0.0 4335 COLORECTAL - - - - LUZP1 ENST00000418342,p.E625D|uc001bgm.1,p.E625D|ENST00000302291,p.E625D|ENST00000374623,p.E625D|uc010odv.1,p.E625D|NM_001142546,p.E625D|uc001bgk.2,p.E625D|ENST00000314174,p.E625D|NM_033631,p.E625D|uc001bgl.3,p.E625D protein_coding uc010odv.1 nonsynonymous SNV exon3 c.A1875C p.E625D ENILQGFSTSHKEGVNQPAAVVMED ENILQGFSTSHKDGVNQPAAVVMED 6.0 6.0 - - 4335_1:23418880-23418880 T>G_ENILQGFSTSHKDGVNQPAAVVMED 0.0 17:40849754-40849754 G>A 1.0 4244 COLORECTAL - - - - CNTNAP1 uc002iay.3,p.G1251R|NM_003632,p.G1251R|ENST00000264638,p.G1251R retained_intron, protein_coding, nonsense_mediated_decay uc002iay.3 nonsynonymous SNV exon22 c.G3751A p.G1251R LRVQGELSESNCGAMPRLVSEVPPE LRVQGELSESNCRAMPRLVSEVPPE 6.0 10.0 - - 4244_17:40849754-40849754 G>A_LRVQGELSESNCRAMPRLVSEVPPE 0.0 6:35928870-35928870 A>G 0.0 4281 COLORECTAL - - - - SLC26A8 uc003oll.3,p.W385R|uc003olm.3,p.W490R|NM_138718,p.W385R|NM_052961,p.W490R|uc003olk.3,p.W72R|ENST00000394602,p.W385R|ENST00000490799,p.W490R|NM_001193476,p.W490R|uc003oln.3,p.W490R|ENST00000355574,p.W490R retained_intron, protein_coding, nonsense_mediated_decay uc003oln.3 nonsynonymous SNV exon13 c.T1468C p.W490R SLWRQDQYDCALWMMTFSSSIFLGL SLWRQDQYDCALRMMTFSSSIFLGL 2.0 6.0 - - 4281_6:35928870-35928870 A>G_SLWRQDQYDCALRMMTFSSSIFLGL 0.0 2:166246105-166246105 G>A 0.0 3903 MELANOMA - - - - SCN2A ENST00000283256,p.S1930N|ENST00000375427,p.S1930N|NM_001040143,p.S1930N|uc002udc.3,p.S1930N|NM_021007,p.S1930N|ENST00000375437,p.S1930N|ENST00000357398,p.S1930N|uc002udd.3,p.S1930N|uc002ude.3,p.S1930N|uc021vry.1,p.S430N|NM_001040142,p.S1930N retained_intron, protein_coding uc021vry.1 nonsynonymous SNV exon3 c.G1289A p.S430N RYLLKQKVKKVSSIYKKDKGKECDG RYLLKQKVKKVSNIYKKDKGKECDG 4.0 9.0 - - 3903_2:166246105-166246105 G>A_RYLLKQKVKKVSNIYKKDKGKECDG 0.0 5:38884169-38884169 G>A 1.0 3713 MELANOMA - - - - OSMR NM_003999,p.G220E|ENST00000274276,p.G220E|ENST00000502536,p.G220E|uc003jlm.2,p.G220E|NM_001168355,p.G220E|uc003jln.2,p.G220E protein_coding, nonsense_mediated_decay uc003jln.2 nonsynonymous SNV exon5 c.G659A p.G220E NKGTNIYCEASQGNVSEGMKGIVLF NKGTNIYCEASQENVSEGMKGIVLF 6.0 3.0 - - 3713_5:38884169-38884169 G>A_NKGTNIYCEASQENVSEGMKGIVLF 0.0 5:140725338-140725338 C>T 0.0 4301 MELANOMA - - ID=COSM267132;OCCURENCE=1(large_intestine) - PCDHGA3 uc003ljm.2,p.R580C|NM_018916,p.R580C|NM_032011,p.R580C|uc011dap.2,p.R580C|ENST00000253812,p.R580C protein_coding uc011dap.2 nonsynonymous SNV exon1 c.C1738T p.R580C PTDGSTGVELAPRSAEPGYLVTKVV PTDGSTGVELAPCSAEPGYLVTKVV 4.0 5.0 - - 4301_5:140725338-140725338 C>T_PTDGSTGVELAPCSAEPGYLVTKVV 0.0 14:38724883-38724883 C>A 0.0 4316 COLORECTAL - - - - CLEC14A ENST00000342213,p.W115C|NM_175060,p.W115C|uc001wum.2,p.W115C protein_coding uc001wum.2 nonsynonymous SNV exon1 c.G345T p.W115C CTLENEPLRGFSWLSSDPGGLESDT CTLENEPLRGFSCLSSDPGGLESDT 3.0 5.0 - - 4316_14:38724883-38724883 C>A_CTLENEPLRGFSCLSSDPGGLESDT 0.0 9:120474944-120474944 T>G 1.0 4245 COLORECTAL - - - - TLR4 ENST00000355622,p.L180V|uc004bka.4,p.L140V|uc004bjz.4,p.L180V|ENST00000394487,p.L140V|NM_003266,p.L140V|NM_138554,p.L180V protein_coding, processed_transcript uc004bka.4 nonsynonymous SNV exon4 c.T418G p.L140V PEYFSNLTNLEHLDLSSNKIQSIYC PEYFSNLTNLEHVDLSSNKIQSIYC 8.0 1.0 - - 4245_9:120474944-120474944 T>G_PEYFSNLTNLEHVDLSSNKIQSIYC 0.0 1:45125929-45125929 G>A 1.0 4136 BREAST - - - - TMEM53 NM_001300747,p.R34W|uc001cmc.3,p.R34W|NM_024587,p.R34W|ENST00000372242,p.R34W|ENST00000420706,p.R34W|NM_001300748,p.R34W|ENST00000372237,p.R34W|ENST00000372235,p.R34W|ENST00000372243,p.R34W protein_coding, processed_transcript uc001cmc.3 nonsynonymous SNV exon2 c.C100T p.R34W NSPSPGGKEAETRQPVVILLGWGGC NSPSPGGKEAETWQPVVILLGWGGC 7.0 8.0 - - 4136_1:45125929-45125929 G>A_NSPSPGGKEAETWQPVVILLGWGGC 0.0 9:114412127-114412127 C>T 0.0 4235 COLORECTAL - - - - DNAJC25 ENST00000313525,p.S295F|NM_001015882,p.S295F|uc004bfm.3,p.S173F|uc004bfl.3,p.S295F protein_coding, nonsense_mediated_decay uc004bfm.3 nonsynonymous SNV exon4 c.C518T p.S173F LYIIRKSMKMSKSQFDSLEDHQKET LYIIRKSMKMSKFQFDSLEDHQKET 5.0 4.0 - - 4235_9:114412127-114412127 C>T_LYIIRKSMKMSKFQFDSLEDHQKET 0.0 15:76633485-76633485 G>A 0.0 4158 COLORECTAL - - - - ISL2 NM_145805,p.G269E|ENST00000290759,p.G269E|uc002bbw.1,p.G269E protein_coding, nonsense_mediated_decay uc002bbw.1 nonsynonymous SNV exon5 c.G806A p.G269E QQQQHSDKTSLQGLTGTPLVAGSPI QQQQHSDKTSLQELTGTPLVAGSPI 3.0 6.0 - - 4158_15:76633485-76633485 G>A_QQQQHSDKTSLQELTGTPLVAGSPI 0.0 5:13868101-13868101 C>T 0.0 3903 MELANOMA - - - - DNAH5 ENST00000265104,p.E1279K|uc003jfd.2,p.E1279K|NM_001369,p.E1279K retained_intron, protein_coding, processed_transcript uc003jfd.2 nonsynonymous SNV exon25 c.G3835A p.E1279K QISIDFQVGPIEESYALLNRYGLLI QISIDFQVGPIEKSYALLNRYGLLI 1.0 2.0 - - 3903_5:13868101-13868101 C>T_QISIDFQVGPIEKSYALLNRYGLLI 0.0 9:97063082-97063082 G>T 0.0 4346 COLORECTAL - - - - ZNF169 uc004aum.1,p.K414N|uc022bki.1,p.K415N|NM_001301275,p.K223N|ENST00000395395,p.K414N|NM_003448,p.K415N|NM_194320,p.K414N protein_coding, processed_transcript uc022bki.1 nonsynonymous SNV exon4 c.G1245T p.K415N YVCAECGHSFRQKVTLIRHQRTHTG YVCAECGHSFRQNVTLIRHQRTHTG 6.0 2.0 - - 4346_9:97063082-97063082 G>T_YVCAECGHSFRQNVTLIRHQRTHTG 0.0 5:31508876-31508876 G>A 1.0 3466 MELANOMA - - - 1 DROSHA NM_001100412,p.S443F|ENST00000344624,p.S480F|ENST00000513349,p.S443F|uc003jhg.2,p.S480F|uc003jhi.2,p.S443F|NM_013235,p.S480F|ENST00000442743,p.S443F|uc003jhh.2,p.S443F|ENST00000511367,p.S480F|uc010iui.1,p.S403F retained_intron, protein_coding, processed_transcript uc010iui.1 nonsynonymous SNV exon4 c.C1208T p.S403F PPKTKLDEDLESSSESECESDEDST PPKTKLDEDLESFSESECESDEDST 10.0 1.0 - - 3466_5:31508876-31508876 G>A_PPKTKLDEDLESFSESECESDEDST 0.0 20:33570300-33570300 G>A 1.0 4189 MELANOMA - - - - MYH7B uc002xbi.2,p.R231Q|NM_020884,p.R231Q|ENST00000262873,p.R231Q retained_intron, protein_coding, processed_transcript uc002xbi.2 nonsynonymous SNV exon10 c.G692A p.R231Q GESGAGKTVNTKRVIQYFAIVAALG GESGAGKTVNTKQVIQYFAIVAALG 2.0 2.0 - - 4189_20:33570300-33570300 G>A_GESGAGKTVNTKQVIQYFAIVAALG 0.0 1:2530093-2530093 C>T 0.0 3903 MELANOMA - - - - MMEL1 uc001ajy.2,p.R393K|ENST00000288709,p.R384K|ENST00000502556,p.R236K|NM_033467,p.R393K|ENST00000504800,p.R393K|ENST00000378412,p.R393K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001ajy.2 nonsynonymous SNV exon12 c.G1178A p.R393K QNLENIIDTYSARTIQNYLVWRLVL QNLENIIDTYSAKTIQNYLVWRLVL 9.0 7.0 - - 3903_1:2530093-2530093 C>T_QNLENIIDTYSAKTIQNYLVWRLVL 0.0 7:20685688-20685688 G>A 0.0 4301 MELANOMA - - - - ABCB5 uc010kuh.3,p.G303E|NM_001163941,p.G303E|ENST00000404938,p.G303E protein_coding, processed_transcript, nonsense_mediated_decay uc010kuh.3 nonsynonymous SNV exon9 c.G908A p.G303E LGAVYFFMNGTYGLAFWYGTSLILN LGAVYFFMNGTYELAFWYGTSLILN 3.0 10.0 - - 4301_7:20685688-20685688 G>A_LGAVYFFMNGTYELAFWYGTSLILN 0.0 3:133375559-133375559 G>A 1.0 3713 MELANOMA - - - - TOPBP1 NM_007027,p.P169L|uc003eps.3,p.P169L|ENST00000260810,p.P169L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003eps.3 nonsynonymous SNV exon5 c.C506T p.P169L LVAANLKKPILLPSWIKTLWEKSQE LVAANLKKPILLLSWIKTLWEKSQE 8.0 3.0 - - 3713_3:133375559-133375559 G>A_LVAANLKKPILLLSWIKTLWEKSQE 0.0 16:67325726-67325726 C>G 0.0 4240 BREAST - - - - KCTD19 uc002esu.2,p.E745Q|NM_001100915,p.E745Q|ENST00000304372,p.E745Q|uc010vjj.1,p.E488Q|uc002est.2,p.E517Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vjj.1 nonsynonymous SNV exon12 c.G1462C p.E488Q KQRTKERESPAPEQPLPEASEVDSL KQRTKERESPAPQQPLPEASEVDSL 1.0 10.0 - - 4240_16:67325726-67325726 C>G_KQRTKERESPAPQQPLPEASEVDSL 0.0 19:50753914-50753914 C>T 1.0 2556 MELANOMA - - - - MYH14 NM_001077186,p.A600V|ENST00000599920,p.A600V|ENST00000598205,p.A600V|ENST00000596571,p.A592V|ENST00000425460,p.A600V|ENST00000376970,p.A592V|uc002prq.1,p.A600V|ENST00000440075,p.A600V|uc002prr.1,p.A592V|ENST00000262269,p.A600V|NM_024729,p.A592V|uc010enu.1,p.A600V|ENST00000601313,p.A600V|NM_001145809,p.A600V retained_intron, protein_coding uc010enu.1 nonsynonymous SNV exon15 c.C1799T p.A600V PKFQRPRHLRDQADFSVLHYAGKVD PKFQRPRHLRDQVDFSVLHYAGKVD 7.0 7.0 CD8 - 2556_19:50753914-50753914 C>T_PKFQRPRHLRDQVDFSVLHYAGKVD 1.0 13:49076955-49076955 G>A 1.0 4278 COLORECTAL - - - - RCBTB2 ENST00000344532,p.S341F|uc001vcj.3,p.S293F|NM_001286830,p.S346F|uc010tgg.2,p.S346F|uc001vci.3,p.S317F|NM_001286832,p.S67F|ENST00000544492,p.S67F|NM_001268,p.S341F|ENST00000430805,p.S346F|uc001vch.3,p.S341F|NM_001286831,p.S317F|uc010tgh.2,p.S67F protein_coding, processed_transcript uc010tgh.2 nonsynonymous SNV exon6 c.C200T p.S67F GHVYMWGQCRGQSVILPHLTHFSCT GHVYMWGQCRGQFVILPHLTHFSCT 6.0 7.0 - - 4278_13:49076955-49076955 G>A_GHVYMWGQCRGQFVILPHLTHFSCT 0.0 14:63174599-63174599 T>A 0.0 4046 OVARIAN - - - - KCNH5 NM_139318,p.D865V|ENST00000322893,p.D865V|uc001xfx.3,p.D865V protein_coding uc001xfx.3 nonsynonymous SNV exon11 c.A2594T p.D865V VTKNPLRKTDSCDSGITKSDLRLDK VTKNPLRKTDSCVSGITKSDLRLDK 1.0 5.0 - - 4046_14:63174599-63174599 T>A_VTKNPLRKTDSCVSGITKSDLRLDK 0.0 5:149323926-149323926 C>T 0.0 3795 MELANOMA - - - - PDE6A uc021yfs.1,p.G104D|uc003lrg.4,p.G104D|NM_000440,p.G104D|ENST00000255266,p.G104D retained_intron, protein_coding uc021yfs.1 nonsynonymous SNV exon1 c.G311A p.G104D DRMSLFMYRTRNGIAELATRLFNVH DRMSLFMYRTRNDIAELATRLFNVH 1.0 10.0 - - 3795_5:149323926-149323926 C>T_DRMSLFMYRTRNDIAELATRLFNVH 0.0 10:54041914-54041914 T>C 1.0 3879 MELANOMA - - - - PRKG1 uc001jjo.3,p.V516A|ENST00000373980,p.V516A|NM_001098512,p.V501A|uc001jjm.3,p.V501A|ENST00000401604,p.V501A|ENST00000373985,p.V489A|NM_006258,p.V516A|ENST00000373975,p.V219A|uc009xow.2,p.V219A protein_coding uc009xow.2 nonsynonymous SNV exon11 c.T656C p.V219A NLILDHRGYAKLVDFGFAKKIGFGK NLILDHRGYAKLADFGFAKKIGFGK 8.0 4.0 - - 3879_10:54041914-54041914 T>C_NLILDHRGYAKLADFGFAKKIGFGK 0.0 19:50945515-50945515 C>T 0.0 4287 COLORECTAL - - - - MYBPC2 NM_004533,p.P283S|ENST00000357701,p.P283S|uc002psf.2,p.P283S retained_intron, protein_coding uc002psf.2 nonsynonymous SNV exon9 c.C847T p.P283S GNKIKLMVEISDPDLTLKWFKNGQE GNKIKLMVEISDSDLTLKWFKNGQE 3.0 10.0 - - 4287_19:50945515-50945515 C>T_GNKIKLMVEISDSDLTLKWFKNGQE 0.0 7:129987659-129987659 G>A 0.0 4238 COLORECTAL - - - - CPA5 ENST00000466363,p.G57R|ENST00000463587,p.G57R|uc003vpu.1,p.G57R|NM_001127442,p.G57R|NM_080385,p.G57R|uc010lme.1,p.G57R|ENST00000474905,p.G57R|uc003vps.2,p.G57R|uc003vpt.2,p.G57R|NM_001127441,p.G57R|uc010lmd.1,p.G57R|ENST00000393213,p.G57R|ENST00000355388,p.G57R|ENST00000485477,p.G57R|ENST00000461828,p.G57R|ENST00000431780,p.G57R retained_intron, protein_coding uc010lme.1 nonsynonymous SNV exon3 c.G169A p.G57R VLAKDEKQLSLLGDLEGLKPQKVDF VLAKDEKQLSLLRDLEGLKPQKVDF 3.0 8.0 - - 4238_7:129987659-129987659 G>A_VLAKDEKQLSLLRDLEGLKPQKVDF 0.0 14:91937309-91937309 A>C 1.0 4345 COLORECTAL - - - - SMEK1 uc001xzn.3,p.L511R|ENST00000428424,p.L272R|uc010atz.3,p.L272R|NM_001284281,p.L272R|uc001xzo.3,p.L498R|ENST00000554943,p.L511R|ENST00000554390,p.L498R|NM_001284280,p.L498R|ENST00000554684,p.L498R|uc001xzm.3,p.L498R|ENST00000555462,p.L272R|ENST00000337238,p.L498R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay uc010atz.3 nonsynonymous SNV exon8 c.T815G p.L272R SKDDFQTAQLLALVLELLTFCVEHH SKDDFQTAQLLARVLELLTFCVEHH 10.0 1.0 - - 4345_14:91937309-91937309 A>C_SKDDFQTAQLLARVLELLTFCVEHH 0.0 20:47632838-47632838 A>C 0.0 4126 NSCLC - - - - ARFGEF2 NM_006420,p.T1401P|uc002xtx.4,p.T1401P|ENST00000371917,p.T1401P|uc010zyf.2,p.T694P protein_coding, processed_transcript uc010zyf.2 nonsynonymous SNV exon17 c.A2080C p.T694P EQLSEKSEWMTTTCNHALYAICDVF EQLSEKSEWMTTPCNHALYAICDVF 5.0 1.0 - - 4126_20:47632838-47632838 A>C_EQLSEKSEWMTTPCNHALYAICDVF 0.0 12:6729913-6729913 G>A 1.0 4196 COLORECTAL - - - - LPAR5 ENST00000431922,p.R168W|NM_020400,p.R168W|ENST00000329858,p.R168W|uc010sff.1,p.R168W|NM_001142961,p.R168W|uc001qps.2,p.R168W|uc021qub.1,p.R168W|uc009zer.2,p.R168W protein_coding, processed_transcript uc021qub.1 nonsynonymous SNV exon1 c.C502T p.R168W AARVHRPSRCRYRDLEVRLCFESFS AARVHRPSRCRYWDLEVRLCFESFS 6.0 8.0 - - 4196_12:6729913-6729913 G>A_AARVHRPSRCRYWDLEVRLCFESFS 0.0 7:45142964-45142964 G>A 1.0 2359 MELANOMA - - - - TBRG4 uc011kcd.3,p.H393Y|NM_001261834,p.H393Y|uc003tmu.3,p.H207Y|ENST00000494076,p.H382Y|ENST00000395655,p.H272Y|uc003tmw.4,p.H272Y|NM_030900,p.H272Y|NM_199122,p.H272Y|uc003tmx.4,p.H272Y|uc003tmv.4,p.H382Y|ENST00000258770,p.H382Y|ENST00000361278,p.H272Y|NM_004749,p.H382Y retained_intron, protein_coding, processed_transcript uc011kcd.3 nonsynonymous SNV exon6 c.C1177T p.H393Y CSVLLAFARLNFHPDQEDQFFSLVH CSVLLAFARLNFYPDQEDQFFSLVH 10.0 4.0 - - 2359_7:45142964-45142964 G>A_CSVLLAFARLNFYPDQEDQFFSLVH 0.0 5:118485291-118485291 G>T 1.0 3919 MELANOMA - - - - DMXL1 ENST00000311085,p.G1257W|uc010jcl.1,p.G1257W|NM_001290322,p.G1084W|uc021ycw.1,p.G1084W|uc003ksd.2,p.G1257W|NM_001290321,p.G1257W|NM_005509,p.G1257W|ENST00000539542,p.G1257W retained_intron, protein_coding, processed_transcript uc021ycw.1 nonsynonymous SNV exon18 c.G3250T p.G1084W SKQEPVITDSYSGSTPSITSLIKQS SKQEPVITDSYSWSTPSITSLIKQS 7.0 9.0 - - 3919_5:118485291-118485291 G>T_SKQEPVITDSYSWSTPSITSLIKQS 0.0 17:21319129-21319129 G>A 0.0 4246 COLORECTAL - - - - KCNJ12,KCNJ18 uc021tss.1,p.V159I|NM_001194958,p.V159I protein_coding uc021tss.1 nonsynonymous SNV exon3 c.G475A p.V159I GLRCVTEECLVAVFMVVAQSIVGCI GLRCVTEECLVAIFMVVAQSIVGCI 2.0 4.0 - - 4246_17:21319129-21319129 G>A_GLRCVTEECLVAIFMVVAQSIVGCI 0.0 9:4661904-4661904 C>G 0.0 3775 CERVICAL - - - - SPATA6L NM_001039395,p.E58Q|ENST00000475086,p.E58Q|uc011llz.2,p.E58Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011llz.2 nonsynonymous SNV exon3 c.G172C p.E58Q AFPIMIQESMRFEKGIAPKIEFSTR AFPIMIQESMRFQKGIAPKIEFSTR 4.0 10.0 - - 3775_9:4661904-4661904 C>G_AFPIMIQESMRFQKGIAPKIEFSTR 0.0 16:71682831-71682831 G>A 1.0 3713 MELANOMA - - - - PHLPP2 ENST00000568954,p.R1312W|NM_001289003,p.R1245W|ENST00000356272,p.R1312W|uc010cgf.3,p.R1245W|NM_015020,p.R1312W|ENST00000393524,p.R1245W|ENST00000567016,p.R1347W|uc002fax.3,p.R1312W retained_intron, protein_coding, nonsense_mediated_decay uc010cgf.3 nonsynonymous SNV exon18 c.C3733T p.R1245W DSRLEPEPHEEDRTEPPEEFDTAL DSRLEPEPHEEDWTEPPEEFDTAL 4.0 6.0 - - 3713_16:71682831-71682831 G>A_DSRLEPEPHEEDWTEPPEEFDTAL 0.0 14:79933698-79933698 C>A 0.0 4245 COLORECTAL - - - - NRXN3 uc001xur.5,p.R128S|ENST00000428277,p.R128S|uc010asw.4,p.R128S|uc001xuq.3,p.R128S|NM_138970,p.R128S|uc001xun.4,p.R760S|ENST00000554719,p.R760S|ENST00000335750,p.R760S|NM_001105250,p.R128S|NM_001272020,p.R128S|ENST00000557594,p.R128S|NM_004796,p.R760S|ENST00000281127,p.R128S|ENST00000554738,p.R1122S|ENST00000555387,p.R128S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010asw.4 nonsynonymous SNV exon2 c.C382A p.R128S GFSTTVKDGILVRIDSAPGLGDFLQ GFSTTVKDGILVSIDSAPGLGDFLQ 5.0 5.0 - - 4245_14:79933698-79933698 C>A_GFSTTVKDGILVSIDSAPGLGDFLQ 0.0 2:86274322-86274322 G>A 0.0 4335 COLORECTAL - - - - POLR1A uc002sqs.3,p.S900L|NM_015425,p.S900L|ENST00000409681,p.S900L|ENST00000263857,p.S900L|uc010ytb.2,p.S266L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ytb.2 nonsynonymous SNV exon6 c.C797T p.S266L QFPENSLQMMVQSGAKGSTVNTMQI QFPENSLQMMVQLGAKGSTVNTMQI 7.0 7.0 - - 4335_2:86274322-86274322 G>A_QFPENSLQMMVQLGAKGSTVNTMQI 0.0 12:58000277-58000277 C>T 0.0 4158 COLORECTAL - - - - DTX3 NM_001286245,p.P2L|ENST00000549583,p.P2L|ENST00000551632,p.P2L protein_coding NM_001286245 nonsynonymous SNV exon3 c.C5T p.P2L MPILSSSGSKMAAC MLILSSSGSKMAAC 6.0 3.0 - - 4158_12:58000277-58000277 C>T_MLILSSSGSKMAAC 0.0 2:97868124-97868124 A>T 1.0 4252 COLORECTAL - - - - ANKRD36 ENST00000420699,p.R985W|NM_001164315,p.R985W|ENST00000461153,p.R985W|uc010yva.2,p.R985W retained_intron, protein_coding uc010yva.2 nonsynonymous SNV exon48 c.A2953T p.R985W GIARENKDGEKSRTVSSEKPPGLKA GIARENKDGEKSWTVSSEKPPGLKA 7.0 6.0 - - 4252_2:97868124-97868124 A>T_GIARENKDGEKSWTVSSEKPPGLKA 0.0 9:2056748-2056748 G>A 1.0 4037 NSCLC - - ID=COSM1169163,COSM1169164;OCCURENCE=1(pancreas) - SMARCA2 NM_001289397,p.R417Q|NM_139045,p.R417Q|ENST00000382203,p.R417Q|ENST00000357248,p.R417Q|uc003zhc.3,p.R417Q|uc003zhd.3,p.R417Q|NM_001289396,p.R417Q|ENST00000382194,p.R417Q|NM_003070,p.R417Q|ENST00000450198,p.R417Q|ENST00000349721,p.R417Q|uc010mha.3,p.R408Q protein_coding, processed_transcript uc010mha.3 nonsynonymous SNV exon7 c.G1223A p.R408Q TLETALNSKAYKRSKRQTLREARMT TLETALNSKAYKQSKRQTLREARMT 10.0 9.0 - - 4037_9:2056748-2056748 G>A_TLETALNSKAYKQSKRQTLREARMT 0.0 8:99170029-99170029 C>T 1.0 3716 MELANOMA - - - - POP1 ENST00000349693,p.P869S|uc003yij.4,p.P869S|uc003yik.3,p.P869S|NM_001145860,p.P869S|NM_015029,p.P869S|NM_001145861,p.P869S|ENST00000401707,p.P869S|uc011lgv.2,p.P869S retained_intron, protein_coding uc011lgv.2 nonsynonymous SNV exon16 c.C2605T p.P869S VWVSLSLLSKGSPEPHTMICVPAKE VWVSLSLLSKGSSEPHTMICVPAKE 5.0 5.0 - - 3716_8:99170029-99170029 C>T_VWVSLSLLSKGSSEPHTMICVPAKE 0.0 1:249148217-249148217 A>C 1.0 4077 BILE DUCT - - - - ZNF692 uc001iff.2,p.S313A|ENST00000366471,p.S313A|uc010pzr.2,p.S363A|uc001ifc.2,p.S358A|NM_001193328,p.S313A|ENST00000306601,p.S358A|ENST00000427146,p.S313A|uc001iez.2,p.S80A|uc031pta.1,p.S80A|NM_017865,p.S358A|ENST00000366469,p.S357A|ENST00000451251,p.S363A|NM_001136036,p.S363A|uc001ifb.2,p.S154A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031pta.1 nonsynonymous SNV exon6 c.T238G p.S80A NHHKKYQHIHQKSFSCPEPACGKSF NHHKKYQHIHQKAFSCPEPACGKSF 8.0 10.0 - - 4077_1:249148217-249148217 A>C_NHHKKYQHIHQKAFSCPEPACGKSF 0.0 7:102108561-102108561 C>T 1.0 3713 MELANOMA - - - - LRWD1 uc003uzn.3,p.P244L|NM_152892,p.P244L|ENST00000292616,p.P244L retained_intron, protein_coding, nonsense_mediated_decay uc003uzn.3 nonsynonymous SNV exon6 c.C731T p.P244L LKRPDDVPLSLSPSKRACASPSAQV LKRPDDVPLSLSLSKRACASPSAQV 4.0 7.0 - - 3713_7:102108561-102108561 C>T_LKRPDDVPLSLSLSKRACASPSAQV 0.0 6:166721479-166721479 G>A 0.0 4252 COLORECTAL - - - - PRR18 uc003quw.1,p.A51V|ENST00000322583,p.A51V|ENST00000529616,p.A51V|NM_175922,p.A51V protein_coding uc003quw.1 nonsynonymous SNV exon1 c.C152T p.A51V RPEGLLSSSWPSATLKRPPARRGPG RPEGLLSSSWPSVTLKRPPARRGPG 3.0 7.0 - - 4252_6:166721479-166721479 G>A_RPEGLLSSSWPSVTLKRPPARRGPG 0.0 5:140057599-140057599 T>A 1.0 4259 COLORECTAL - - - - HARS ENST00000307633,p.D115V|uc003lgw.4,p.D155V|ENST00000457527,p.D155V|uc011czn.3,p.D115V|NM_001258041,p.D155V|NM_001258042,p.D115V retained_intron, protein_coding, nonsense_mediated_decay uc011czn.3 nonsynonymous SNV exon5 c.A344T p.D115V KLTNIKRYHIAKDFDIAGNFDPMIP KLTNIKRYHIAKVFDIAGNFDPMIP 10.0 6.0 - - 4259_5:140057599-140057599 T>A_KLTNIKRYHIAKVFDIAGNFDPMIP 0.0 2:173352859-173352859 C>G 1.0 4126 NSCLC - - - - ITGA6 uc002uhp.1,p.A803G|ENST00000416789,p.A28G|ENST00000343713,p.A798G|NM_000210,p.A803G|ENST00000409080,p.A803G|uc010zdy.1,p.A684G|ENST00000264106,p.A842G|NM_001079818,p.A803G|ENST00000458358,p.A798G|uc010fqm.1,p.A449G|ENST00000409532,p.A684G|uc002uho.1,p.A803G|ENST00000375221,p.A842G|ENST00000442250,p.A842G|ENST00000264107,p.A803G retained_intron, protein_coding uc010zdy.1 nonsynonymous SNV exon19 c.C2051G p.A684G VVIELLLSVSGVAKPSQVYFGGTVV VVIELLLSVSGVGKPSQVYFGGTVV 7.0 6.0 - - 4126_2:173352859-173352859 C>G_VVIELLLSVSGVGKPSQVYFGGTVV 0.0 8:113275993-113275993 C>T 0.0 3795 MELANOMA - - - 2 CSMD3 uc003yns.3,p.G2448E|ENST00000352409,p.G3176E|uc003ynt.3,p.G3206E|ENST00000343508,p.G3206E|ENST00000297405,p.G3246E|uc003ynu.3,p.G3246E|ENST00000455883,p.G3077E|ENST00000339701,p.G2516E|NM_052900,p.G3077E|NM_198124,p.G3206E|uc011lhx.2,p.G3077E|NM_198123,p.G3246E retained_intron, protein_coding, processed_transcript uc011lhx.2 nonsynonymous SNV exon59 c.G9230A p.G3077E PTPPQISNGRLEGTNFDWGFSISYI PTPPQISNGRLEETNFDWGFSISYI 2.0 4.0 - - 3795_8:113275993-113275993 C>T_PTPPQISNGRLEETNFDWGFSISYI 0.0 7:94855338-94855338 G>A 1.0 4213 COLORECTAL - - ID=COSM1698935,COSM1698934;OCCURENCE=1(skin) - PPP1R9A ENST00000289495,p.M652I|uc011kif.2,p.M652I|NM_017650,p.M652I|ENST00000433881,p.M652I|uc003unq.3,p.M652I|NM_001166160,p.M674I|ENST00000456331,p.M652I|NM_001166162,p.M652I|uc010lfj.3,p.M674I|NM_001166163,p.M652I|ENST00000340694,p.M652I|NM_001166161,p.M652I|uc003unp.3,p.M652I|uc011kig.2,p.M652I|ENST00000424654,p.M652I|ENST00000433360,p.M674I protein_coding uc011kig.2 nonsynonymous SNV exon6 c.G1956A p.M652I EDEVGPVLPGSDMAIEVFELPENED EDEVGPVLPGSDIAIEVFELPENED 7.0 9.0 - - 4213_7:94855338-94855338 G>A_EDEVGPVLPGSDIAIEVFELPENED 0.0 19:37101626-37101626 C>T 1.0 4301 MELANOMA - - - - ZNF382 uc002oel.3,p.P72S|ENST00000435416,p.P72S retained_intron, protein_coding uc002oel.3 nonsynonymous SNV exon2 c.C214T p.P72S EQGEELWTQRIFPSYSYLEDGKTED EQGEELWTQRIFSSYSYLEDGKTED 6.0 8.0 - - 4301_19:37101626-37101626 C>T_EQGEELWTQRIFSSYSYLEDGKTED 0.0 6:147685193-147685193 G>A 0.0 4346 COLORECTAL - - - - STXBP5 uc003qly.3,p.R646Q|ENST00000367480,p.R938Q|ENST00000321680,p.R991Q|uc010khz.2,p.R955Q|ENST00000179882,p.R646Q|NM_139244,p.R955Q|uc003qlz.3,p.R991Q|NM_001127715,p.R991Q|ENST00000367481,p.R955Q protein_coding uc010khz.2 nonsynonymous SNV exon23 c.G2864A p.R955Q LLDVYYLPLTNMRIARTFCFTNNGQ LLDVYYLPLTNMQIARTFCFTNNGQ 7.0 9.0 - - 4346_6:147685193-147685193 G>A_LLDVYYLPLTNMQIARTFCFTNNGQ 0.0 9:42368614-42368614 A>G 0.0 4316 COLORECTAL - rs200348657 - - ANKRD20A2,ANKRD20A3 NM_001012421,p.H67R|uc004acd.3,p.H67R|ENST00000377601,p.H67R|NM_001012419,p.H67R|uc010mmv.3,p.H67R protein_coding, processed_transcript uc010mmv.3 nonsynonymous SNV exon1 c.A200G p.H67R RRSGDLDALDKQHRTALHLACASGH RRSGDLDALDKQRRTALHLACASGH 3.0 8.0 - - 4316_9:42368614-42368614 A>G_RRSGDLDALDKQRRTALHLACASGH 0.0 18:47405409-47405409 T>A 1.0 4287 COLORECTAL - - - - MYO5B NM_001080467,p.E1061V|uc002lea.2,p.E202V|uc002leb.2,p.E1061V|ENST00000285039,p.E1061V|ENST00000324581,p.E202V retained_intron, protein_coding, processed_transcript uc002leb.2 nonsynonymous SNV exon24 c.A3182T p.E1061V NSVKENLMKKELEEERSRYQNLVKE NSVKENLMKKELVEERSRYQNLVKE 10.0 2.0 - - 4287_18:47405409-47405409 T>A_NSVKENLMKKELVEERSRYQNLVKE 0.0 2:202571664-202571664 C>G 0.0 4335 COLORECTAL - - - - ALS2 ENST00000264276,p.L1495F|NM_020919,p.L1495F|uc002uyo.3,p.L1495F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002uyo.3 nonsynonymous SNV exon29 c.G4485C p.L1495F PRLYPPLFMLYALDNDREEDIYWEC PRLYPPLFMLYAFDNDREEDIYWEC 8.0 3.0 - - 4335_2:202571664-202571664 C>G_PRLYPPLFMLYAFDNDREEDIYWEC 0.0 19:2193765-2193765 C>T 1.0 3713 MELANOMA - - - - DOT1L NM_032482,p.P191S|uc002lvb.4,p.P191S|ENST00000452696,p.P167S|ENST00000398665,p.P191S retained_intron, protein_coding, processed_transcript uc002lvb.4 nonsynonymous SNV exon6 c.C571T p.P191S CKHHYGVEKADIPAKYAETMDREFR CKHHYGVEKADISAKYAETMDREFR 6.0 6.0 - - 3713_19:2193765-2193765 C>T_CKHHYGVEKADISAKYAETMDREFR 0.0 14:52186873-52186873 C>A 0.0 4335 COLORECTAL - - - - FRMD6 NM_001267047,p.S17R|ENST00000555197,p.S105R|ENST00000344768,p.S375R|uc001wzd.3,p.S375R|uc001wze.3,p.S298R|NM_152330,p.S367R|ENST00000553556,p.S17R|uc001wzf.3,p.S68R|NM_001042481,p.S367R|ENST00000356218,p.S367R|ENST00000395718,p.S367R|uc001wzc.3,p.S367R|ENST00000555703,p.S17R|ENST00000554167,p.S298R|uc001wzb.4,p.S367R|uc001wzg.3,p.S17R|NM_001267046,p.S375R retained_intron, protein_coding, processed_transcript uc001wzg.3 nonsynonymous SNV exon2 c.C51A p.S17R EKRSRASGSSAGSMKHKRLSRHSTA EKRSRASGSSAGRMKHKRLSRHSTA 6.0 9.0 - - 4335_14:52186873-52186873 C>A_EKRSRASGSSAGRMKHKRLSRHSTA 0.0 10:135053475-135053475 C>T 0.0 4329 COLORECTAL - - - - VENTX ENST00000325980,p.R148W|NM_014468,p.R148W|uc010quy.1,p.R148W protein_coding uc010quy.1 nonsynonymous SNV exon3 c.C442T p.R148W KTWFQNRRMKHKRQMQDPQLHSPFS KTWFQNRRMKHKWQMQDPQLHSPFS 1.0 6.0 - - 4329_10:135053475-135053475 C>T_KTWFQNRRMKHKWQMQDPQLHSPFS 0.0 2:160295170-160295170 C>T 0.0 2591 MELANOMA - - - - BAZ2B ENST00000392782,p.G311R|ENST00000343439,p.G311R|uc002uao.3,p.G313R|NM_013450,p.G313R|ENST00000392783,p.G313R|uc002uas.1,p.G250R|uc010fop.1,p.G311R|uc002uap.3,p.G311R|ENST00000355831,p.G313R|uc002uau.1,p.G311R|uc002uaq.1,p.G241R|NM_001289975,p.G311R retained_intron, protein_coding, processed_transcript uc010fop.1 nonsynonymous SNV exon7 c.G931A p.G311R VLLHGISDPKADGQKATEKAQEKRI VLLHGISDPKADRQKATEKAQEKRI 7.0 4.0 - - 2591_2:160295170-160295170 C>T_VLLHGISDPKADRQKATEKAQEKRI 0.0 10:13523048-13523048 G>A 1.0 3713 MELANOMA - - - - BEND7 ENST00000396898,p.T318I|ENST00000396900,p.T305I|NM_001100912,p.T266I|NM_152751,p.T253I|uc001imm.2,p.T253I|uc001imn.3,p.T14I|ENST00000341083,p.T253I|uc001imo.4,p.T266I|ENST00000378605,p.T266I protein_coding, processed_transcript uc001imo.4 nonsynonymous SNV exon5 c.C797T p.T266I PKSQLDSILSNYTRSGSLLFRKLVC PKSQLDSILSNYIRSGSLLFRKLVC 1.0 4.0 - - 3713_10:13523048-13523048 G>A_PKSQLDSILSNYIRSGSLLFRKLVC 0.0 19:4839259-4839259 A>G 1.0 4180 BREAST - - - - PLIN3 ENST00000585479,p.L416P|NM_001164194,p.L405P|uc002mbj.2,p.L417P|NM_001164189,p.L416P|uc002mbl.3,p.L416P|NM_005817,p.L417P|uc002mbk.2,p.L405P|ENST00000221957,p.L417P|ENST00000592528,p.L405P protein_coding uc002mbl.3 nonsynonymous SNV exon8 c.T1247C p.L416P VEYVAQNTPVTWLVGPFAPGITEKA VEYVAQNTPVTWPVGPFAPGITEKA 10.0 9.0 - - 4180_19:4839259-4839259 A>G_VEYVAQNTPVTWPVGPFAPGITEKA 0.0 16:67195814-67195816 CGC>- 1.0 4078 GASTRIC - - - - FBXL8 ENST00000519945,p.42_43del protein_coding, processed_transcript, nonsense_mediated_decay ENST00000519945 nonframeshift deletion exon2 c.126_128del p.42_43del RVCRAWAAAATCSAVWHDTKISQPS RVCRAWAAAATCSVWHDTKISQPSP 5.0 5.0 - - 4078_16:67195814-67195816 CGC>-_RVCRAWAAAATCSVWHDTKISQPSP 0.0 11:6238409-6238409 G>A 1.0 2556 MELANOMA - - - - FAM160A2 uc001mcm.2,p.H803Y|ENST00000524416,p.H803Y protein_coding, processed_transcript uc001mcm.2 nonsynonymous SNV exon9 c.C2407T p.H803Y SYLCPCVCLYVFHACAGLSIDLHLS SYLCPCVCLYVFYACAGLSIDLHLS 6.0 2.0 - - 2556_11:6238409-6238409 G>A_SYLCPCVCLYVFYACAGLSIDLHLS 0.0 2:179534397-179534397 C>T 0.0 4275 COLORECTAL - - - - TTN NM_001267550,p.E11798K|uc031rqc.1,p.E11798K|ENST00000589042,p.E11798K retained_intron, protein_coding uc031rqc.1 nonsynonymous SNV exon158 c.G35392A p.E11798K PEEPRVPPTKAPEVPKKIVPEEKVR PEEPRVPPTKAPKVPKKIVPEEKVR 7.0 7.0 - - 4275_2:179534397-179534397 C>T_PEEPRVPPTKAPKVPKKIVPEEKVR 0.0 7:48390282-48390282 G>A 1.0 4213 COLORECTAL - - - - ABCA13 uc010kys.2,p.R1097H|uc031sxh.1,p.R1097H|uc003tos.1,p.R242H|uc003toq.2,p.R3416H|uc031sxg.1,p.R1097H|NM_152701,p.R3416H|ENST00000435803,p.R3416H retained_intron, protein_coding, nonsense_mediated_decay uc031sxh.1 nonsynonymous SNV exon13 c.G3290A p.R1097H LLDEMFNHAGAGRFRFLGSILVNLS LLDEMFNHAGAGHFRFLGSILVNLS 5.0 10.0 - - 4213_7:48390282-48390282 G>A_LLDEMFNHAGAGHFRFLGSILVNLS 0.0 19:39219953-39219953 C>T 1.0 3879 MELANOMA - - - - ACTN4 ENST00000440400,p.P304S|uc021uug.1,p.P654S|ENST00000252699,p.P873S|ENST00000424234,p.P483S|NM_004924,p.P873S|uc002oja.2,p.P873S|ENST00000390009,p.P654S retained_intron, protein_coding, processed_transcript uc021uug.1 nonsynonymous SNV exon14 c.C1960T p.P654S FITAEELRRELPPDQAEYCIARMAP FITAEELRRELPSDQAEYCIARMAP 10.0 2.0 - - 3879_19:39219953-39219953 C>T_FITAEELRRELPSDQAEYCIARMAP 0.0 12:57499285-57499285 G>A 1.0 4240 BREAST - - - 1 STAT6 ENST00000454075,p.R260W|NM_001178080,p.R150W|ENST00000300134,p.R260W|ENST00000538913,p.R150W|uc010srb.2,p.R150W|NM_003153,p.R260W|uc010src.2,p.R150W|ENST00000556155,p.R260W|uc009zpg.3,p.R309W|NM_001178079,p.R260W|uc009zpe.3,p.R260W|uc010srd.2,p.R150W|ENST00000543873,p.R260W|NM_001178081,p.R150W|ENST00000537215,p.R150W|uc009zpf.3,p.R260W|uc001sna.3,p.R260W|NM_001178078,p.R260W retained_intron, protein_coding, nonsense_mediated_decay uc010srd.2 nonsynonymous SNV exon6 c.C448T p.R150W ELEPKTRASLTGRLDEVLRTLVTSC ELEPKTRASLTGWLDEVLRTLVTSC 10.0 3.0 - - 4240_12:57499285-57499285 G>A_ELEPKTRASLTGWLDEVLRTLVTSC 0.0 2:74642085-74642085 C>T 1.0 4246 COLORECTAL - - - - C2orf81 NM_001145054,p.G380R|ENST00000290390,p.G380R|ENST00000517883,p.G312R|uc010yrq.1,p.G380R protein_coding uc010yrq.1 nonsynonymous SNV exon4 c.G1138A p.G380R PDSQTRPLEAYRGRQRGEKTKARAE PDSQTRPLEAYRRRQRGEKTKARAE 5.0 6.0 - - 4246_2:74642085-74642085 C>T_PDSQTRPLEAYRRRQRGEKTKARAE 0.0 12:52380736-52380736 T>C 1.0 3713 MELANOMA - - - - ACVR1B uc001rzl.3,p.L424P|ENST00000415850,p.L424P protein_coding, processed_transcript, nonsense_mediated_decay uc001rzl.3 nonsynonymous SNV exon7 c.T1271C p.L424P EIARRCNSGGTFLFCLCSYLPFQDA EIARRCNSGGTFPFCLCSYLPFQDA 6.0 5.0 - - 3713_12:52380736-52380736 T>C_EIARRCNSGGTFPFCLCSYLPFQDA 0.0 5:176943295-176943295 C>G 0.0 4110 BILE DUCT - - - - DDX41 ENST00000330503,p.A116P|ENST00000507955,p.A98P|NM_016222,p.A98P|uc003mho.3,p.A98P|ENST00000509576,p.A98P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003mho.3 nonsynonymous SNV exon3 c.G292C p.A98P SLLDQHQHLKEKAEARKESAKEKQL SLLDQHQHLKEKPEARKESAKEKQL 9.0 5.0 - - 4110_5:176943295-176943295 C>G_SLLDQHQHLKEKPEARKESAKEKQL 0.0 9:5463085-5463085 C>T 1.0 4000 MELANOMA - - - 1 CD274 NM_014143,p.P216S|uc003zje.3,p.P216S|NM_001267706,p.P102S|ENST00000381573,p.P102S|ENST00000381577,p.P216S|uc003zjf.4,p.P102S protein_coding, processed_transcript uc003zjf.4 nonsynonymous SNV exon3 c.C304T p.P102S NEIFYCTFRRLDPEENHTAELVIPE NEIFYCTFRRLDSEENHTAELVIPE 7.0 10.0 - - 4000_9:5463085-5463085 C>T_NEIFYCTFRRLDSEENHTAELVIPE 0.0 5:156934131-156934131 C>T 0.0 4155 MELANOMA - - - - ADAM19 ENST00000517905,p.G308D|uc003lwz.4,p.G308D|ENST00000257527,p.G308D|uc003lww.3,p.G41D|NM_033274,p.G308D|uc011ddr.1,p.G239D|ENST00000394020,p.G310D|ENST00000430702,p.G41D retained_intron, protein_coding, nonsense_mediated_decay uc011ddr.1 nonsynonymous SNV exon10 c.G716A p.G239D DNAQLITGMSFHGTTIGLAPLMAMC DNAQLITGMSFHDTTIGLAPLMAMC 4.0 10.0 - - 4155_5:156934131-156934131 C>T_DNAQLITGMSFHDTTIGLAPLMAMC 0.0 X:26157208-26157208 G>C 0.0 3775 CERVICAL - - ID=COSM3965072;OCCURENCE=1(lung) - MAGEB18 ENST00000325250,p.E36Q|uc022bub.1,p.E36Q protein_coding uc022bub.1 nonsynonymous SNV exon1 c.G106C p.E36Q DLGATQATVAEGESPSPAYLLFGDR DLGATQATVAEGQSPSPAYLLFGDR 1.0 7.0 - - 3775_X:26157208-26157208 G>C_DLGATQATVAEGQSPSPAYLLFGDR 0.0 19:33904513-33904513 C>A 1.0 4129 NSCLC - - - - PEPD uc010xrs.2,p.M172I|ENST00000593163,p.M129I|NM_001166057,p.M172I|ENST00000436370,p.M172I|ENST00000244137,p.M236I|uc002nur.4,p.M236I|NM_000285,p.M236I retained_intron, protein_coding, lincRNA uc010xrs.2 nonsynonymous SNV exon8 c.G516T p.M172I SLFEHYCYSRGGMRHSSYTCICGSG SLFEHYCYSRGGIRHSSYTCICGSG 10.0 3.0 - - 4129_19:33904513-33904513 C>A_SLFEHYCYSRGGIRHSSYTCICGSG 0.0 19:49963010-49963010 G>A 1.0 4237 NSCLC - - - - ALDH16A1 NM_001145396,p.R135Q|NM_153329,p.R135Q|ENST00000293350,p.R135Q|uc002pnt.3,p.R135Q|ENST00000455361,p.R135Q|uc010yar.2,p.R135Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010yar.2 nonsynonymous SNV exon4 c.G404A p.R135Q ESLVTGRAVREVRDGDVQLAQQLLH ESLVTGRAVREVQDGDVQLAQQLLH 9.0 3.0 - - 4237_19:49963010-49963010 G>A_ESLVTGRAVREVQDGDVQLAQQLLH 0.0 3:130852674-130852674 G>A 0.0 3919 MELANOMA - - - - NEK11 ENST00000412440,p.G26E|ENST00000510769,p.G174E|uc010hto.2,p.G26E|uc011blm.2,p.G174E|ENST00000510688,p.G174E|uc011blk.2,p.G26E|ENST00000383366,p.G174E|uc003enw.1,p.G174E|uc003eoa.3,p.G174E|NM_024800,p.G174E|ENST00000508196,p.G174E|ENST00000429253,p.G174E|uc003enx.3,p.G174E|ENST00000511262,p.G174E|uc003eny.3,p.G174E|uc011bll.2,p.G174E|ENST00000507910,p.G174E|ENST00000356918,p.G174E|NM_145910,p.G174E|NM_001146003,p.G174E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011blm.2 nonsynonymous SNV exon6 c.G521A p.G174E KNVFLKNNLLKIGDFGVSRLLMGSC KNVFLKNNLLKIEDFGVSRLLMGSC 3.0 4.0 - - 3919_3:130852674-130852674 G>A_KNVFLKNNLLKIEDFGVSRLLMGSC 0.0 1:247586622-247586622 C>T 0.0 3795 MELANOMA - - - - NLRP3 NM_004895,p.S125L|ENST00000348069,p.S125L|uc001ics.3,p.S125L|NM_183395,p.S125L|ENST00000391828,p.S125L|ENST00000366496,p.S125L|uc001icw.3,p.S125L|ENST00000336119,p.S125L|NM_001079821,p.S125L|uc001ict.1,p.S123L|uc001icu.3,p.S125L|uc010pyw.2,p.S123L|NM_001243133,p.S123L|ENST00000366497,p.S125L|uc001icv.3,p.S125L|uc001icr.3,p.S125L|NM_001127461,p.S125L|ENST00000391827,p.S125L|NM_001127462,p.S125L protein_coding, processed_transcript uc010pyw.2 nonsynonymous SNV exon2 c.C368T p.S123L IEEEWMGLLEYLSRISICKMKKDYR IEEEWMGLLEYLLRISICKMKKDYR 5.0 2.0 - - 3795_1:247586622-247586622 C>T_IEEEWMGLLEYLLRISICKMKKDYR 0.0 1:159277714-159277714 A>C 0.0 4246 COLORECTAL - - - - FCER1A NM_002001,p.N256H|ENST00000368115,p.N256H|uc001ftq.3,p.N256H|ENST00000368114,p.N223H protein_coding uc001ftq.3 nonsynonymous SNV exon6 c.A766C p.N256H RLLNPHPKPNPKNN RLLNPHPKPNPKHN 4.0 2.0 - - 4246_1:159277714-159277714 A>C_RLLNPHPKPNPKHN 0.0 22:19220085-19220085 C>G 1.0 4213 COLORECTAL - - - 1 CLTCL1 NM_001835,p.G520R|uc021wlc.1,p.G520R|NM_007098,p.G520R|ENST00000505027,p.G520R|ENST00000353891,p.G520R|ENST00000263200,p.G520R|uc011agw.1,p.G520R|uc021wle.1,p.G520R|uc021wlf.1,p.G520R|uc021wld.1,p.G520R|ENST00000427926,p.G520R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021wlf.1 nonsynonymous SNV exon10 c.G1558C p.G520R VGYTPDWIFLLRGVMKISPEQGLQF VGYTPDWIFLLRRVMKISPEQGLQF 6.0 10.0 - - 4213_22:19220085-19220085 C>G_VGYTPDWIFLLRRVMKISPEQGLQF 0.0 12:131488763-131488763 G>A 0.0 4259 COLORECTAL - - - - GPR133 ENST00000376682,p.V79M|ENST00000544673,p.V84M|NM_198827,p.V393M|ENST00000535015,p.V425M|uc010tbm.2,p.V425M|uc001uit.4,p.V393M|ENST00000261654,p.V393M|ENST00000545900,p.V89M retained_intron, protein_coding, processed_transcript uc010tbm.2 nonsynonymous SNV exon12 c.G1273A p.V425M AEFSVAKILPKTVNSSHYRFPAHGQ AEFSVAKILPKTMNSSHYRFPAHGQ 5.0 5.0 - - 4259_12:131488763-131488763 G>A_AEFSVAKILPKTMNSSHYRFPAHGQ 0.0 2:50850710-50850710 G>- 0.0 4078 GASTRIC - - - - NRXN1 NM_004801,p.F292fs|ENST00000405472,p.F292fs|uc021vhg.1,p.F325fs|uc021vhi.1,p.F321fs|uc021vhj.1,p.F288fs|uc021vhh.1,p.F292fs|ENST00000406316,p.F292fs|ENST00000402717,p.F292fs|ENST00000406859,p.F292fs|NM_001135659,p.F325fs|ENST00000401669,p.F292fs|ENST00000404971,p.F325fs retained_intron, protein_coding, processed_transcript uc021vhj.1 frameshift deletion exon5 c.864delC p.F288fs EEYIATFKGSEYFCYDLSQNPIQSS EEYIATFKGSEYFATTCLKTPFKAAVMK 1.0 1.0 - - 4078_2:50850710-50850710 G>-_EEYIATFKGSEYFATTCLKTPFKAAVMK 0.0 20:44333611-44333611 C>A 0.0 4301 MELANOMA - - - - WFDC10B ENST00000335769,p.R7M|uc002xpc.3,p.R7M|NM_172131,p.R7M protein_coding uc002xpc.3 nonsynonymous SNV exon1 c.G20T p.R7M MVSCERRASKSVGQILLWD MVSCERMASKSVGQILLWD 4.0 4.0 - - 4301_20:44333611-44333611 C>A_MVSCERMASKSVGQILLWD 0.0 13:37598227-37598228 GA>- 1.0 4317 COLORECTAL - - - - SUPT20H ENST00000464744,p.L513fs|ENST00000542180,p.L476fs|uc010abt.3,p.L513fs|NM_001278482,p.L513fs|ENST00000495071,p.L476fs|NM_001278480,p.L512fs|uc001uwl.1,p.L512fs|uc010tes.1,p.L476fs|NM_001278481,p.L513fs|ENST00000475892,p.L512fs|uc001uwf.3,p.L90fs|ENST00000356185,p.L513fs|ENST00000350612,p.L512fs|uc001uwg.3,p.L512fs|NM_001014286,p.L512fs|NM_017569,p.L513fs|uc001uwh.3,p.L513fs|uc001uwi.3,p.L512fs|ENST00000490716,p.L500fs|ENST00000360252,p.L513fs|uc001uwk.3,p.L512fs|uc001uwj.3,p.L513fs retained_intron, protein_coding, processed_transcript uc010tes.1 frameshift deletion exon17 c.1427_1428del p.L476fs KPSSIPRKSSVDLNQVSMLSPAALS KPSSIPRKSSVDQSS 10.0 3.0 - - 4317_13:37598227-37598228 GA>-_KPSSIPRKSSVDQSS 0.0 1:216420343-216420343 T>A 0.0 4196 COLORECTAL - - - - USH2A ENST00000366942,p.D798V|NM_007123,p.D798V|ENST00000366943,p.D798V|NM_206933,p.D798V|ENST00000307340,p.D798V|uc001hkv.3,p.D798V|uc001hku.1,p.D798V retained_intron, protein_coding uc001hkv.3 nonsynonymous SNV exon13 c.A2393T p.D798V GLDVTNCKACDCDTAGSLPGTVCNA GLDVTNCKACDCVTAGSLPGTVCNA 3.0 3.0 - - 4196_1:216420343-216420343 T>A_GLDVTNCKACDCVTAGSLPGTVCNA 0.0 12:113319613-113319613 C>T 0.0 4301 MELANOMA - - - - RPH3A ENST00000389385,p.P430S|uc010sym.2,p.P381S|uc001ttz.3,p.P430S|ENST00000543106,p.P430S|NM_014954,p.P426S|uc010syl.2,p.P430S|uc009zwe.1,p.P426S|NM_001143854,p.P430S|uc001tty.3,p.P426S|ENST00000551052,p.P426S|ENST00000548866,p.P381S|ENST00000447659,p.P381S|ENST00000420983,p.P430S|ENST00000415485,p.P430S|uc001tua.3,p.P190S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010sym.2 nonsynonymous SNV exon13 c.C1141T p.P381S GLKPMDSNGLADPYVKLHLLPGASK GLKPMDSNGLADSYVKLHLLPGASK 3.0 1.0 - - 4301_12:113319613-113319613 C>T_GLKPMDSNGLADSYVKLHLLPGASK 0.0 8:95502281-95502281 C>T 1.0 4000 MELANOMA - - - - KIAA1429 uc003ygo.2,p.G1724S|NM_015496,p.G1724S|ENST00000297591,p.G1724S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003ygo.2 nonsynonymous SNV exon23 c.G5170A p.G1724S SKGNYSRREGTRGSSWSAQNTPRGN SKGNYSRREGTRSSSWSAQNTPRGN 9.0 10.0 - - 4000_8:95502281-95502281 C>T_SKGNYSRREGTRSSSWSAQNTPRGN 0.0 2:182403913-182403913 G>A 0.0 2556 MELANOMA - - - - CERKL uc021vti.1,p.P230S|uc021vtj.1,p.P185S|uc021vtk.1,p.P230S|uc002unw.3,p.P78S|uc002unz.3,p.P230S|ENST00000374970,p.P413S|uc021vth.1,p.P277S|NM_001030313,p.P413S|uc002uny.3,p.P482S|uc021vtm.2,p.P277S|uc010zfm.2,p.P464S|uc002uoc.3,p.P369S|NM_001030312,p.P369S|uc002uod.3,p.P277S|NM_201548,p.P482S|uc002uoa.3,p.P413S|ENST00000339098,p.P508S|ENST00000410087,p.P482S|ENST00000409440,p.P464S|uc021vtl.1,p.P185S|NM_001160277,p.P464S|uc002unx.3,p.P508S|uc010frk.4,p.P174S|ENST00000374969,p.P369S|NM_001030311,p.P508S|uc002uob.3,p.P230S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021vtm.2 nonsynonymous SNV exon13 c.C829T p.P277S KVHPRNNTGGYNPEEEEDETASENC KVHPRNNTGGYNSEEEEDETASENC 3.0 6.0 - - 2556_2:182403913-182403913 G>A_KVHPRNNTGGYNSEEEEDETASENC 0.0 13:96547548-96547548 G>A 1.0 3678 MELANOMA - - - - UGGT2 ENST00000376747,p.P882L|NM_020121,p.P882L|uc001vmt.3,p.P882L retained_intron, protein_coding, processed_transcript uc001vmt.3 nonsynonymous SNV exon23 c.C2645T p.P882L EMGIVSNGRFLGPLDEDFYAEDFYL EMGIVSNGRFLGLLDEDFYAEDFYL 9.0 10.0 CD8 - 3678_13:96547548-96547548 G>A_EMGIVSNGRFLGLLDEDFYAEDFYL 1.0 4:7684503-7684503 ->A 0.0 4245 COLORECTAL - - - - SORCS2 uc003gkb.4,p.Q459fs|NM_020777,p.Q459fs|ENST00000507866,p.Q459fs|uc011bwi.2,p.Q287fs|ENST00000329016,p.Q287fs protein_coding, processed_transcript uc011bwi.2 frameshift insertion exon10 c.860dupA p.Q287fs EVRGVKGVFLANQKIDGKVMTLITY EVRGVKGVFLANQKN 4.0 6.0 - - 4245_4:7684503-7684503 ->A_EVRGVKGVFLANQKN 0.0 22:30824484-30824484 A>C 1.0 4320 COLORECTAL - - - - MTFP1 ENST00000355143,p.Q77H|uc003ahx.2,p.Q77H|NM_001003704,p.Q77H protein_coding,retained_intron, nonsense_mediated_decay uc003ahx.2 nonsynonymous SNV exon3 c.A231C p.Q77H EVGGFPPGLQPAQALPNSGEAQLLL EVGGFPPGLQPAHALPNSGEAQLLL 6.0 4.0 - - 4320_22:30824484-30824484 A>C_EVGGFPPGLQPAHALPNSGEAQLLL 0.0 19:8188736-8188736 G>T 0.0 4326 BREAST - - - - FBN3 ENST00000601739,p.A963D|ENST00000270509,p.A963D|ENST00000600128,p.A963D|NM_032447,p.A963D|uc002mjf.3,p.A963D retained_intron, protein_coding uc002mjf.3 nonsynonymous SNV exon22 c.C2888A p.A963D CEACPDPESLEFASLCPRGLGFASR CEACPDPESLEFDSLCPRGLGFASR 4.0 6.0 - - 4326_19:8188736-8188736 G>T_CEACPDPESLEFDSLCPRGLGFASR 0.0 17:7577094-7577094 G>A 1.0 4244 COLORECTAL - - ID=COSM3378339,COSM99925,COSM1636702,COSM10704;OCCURENCE=17(ovary),3(endometrium),1(salivary_gland),9(skin),22(breast),2(prostate),148(large_intestine),4(biliary_tract),12(urinary_tract),5(liver),17(pancreas),1(thymus),36(central_nervous_system),34(stomach),4(vulva),55(oesophagus),37(upper_aerodigestive_tract),2(bone),2(thyroid),20(lung),2(peritoneum),7(haematopoietic_and_lymphoid_tissue) 1 TP53 uc002gih.3,p.R282W|NM_000546,p.R282W|NM_001126112,p.R282W|ENST00000445888,p.R282W|uc031qyq.1,p.R243W|NM_001126117,p.R150W|NM_001276699,p.R123W|ENST00000359597,p.R282W|NM_001126114,p.R282W|NM_001276697,p.R123W|NM_001126116,p.R150W|ENST00000455263,p.R282W|uc010cnf.2,p.R123W|uc002gii.2,p.R123W|NM_001276760,p.R243W|NM_001126113,p.R282W|NM_001126118,p.R243W|NM_001276696,p.R243W|ENST00000269305,p.R282W|NM_001276698,p.R123W|uc002gij.3,p.R243W|NM_001276695,p.R243W|uc010cng.2,p.R123W|NM_001126115,p.R150W|ENST00000509690,p.R150W|ENST00000420246,p.R282W|NM_001276761,p.R243W retained_intron, protein_coding, processed_transcript uc031qyq.1 nonsynonymous SNV exon7 c.C727T p.R243W FEVRVCACPGRDRRTEEENLRKKGE FEVRVCACPGRDWRTEEENLRKKGE 9.0 10.0 - - 4244_17:7577094-7577094 G>A_FEVRVCACPGRDWRTEEENLRKKGE 0.0 6:158094126-158094126 G>A 1.0 4284 COLORECTAL - - ID=COSM3697632;OCCURENCE=1(large_intestine) - ZDHHC14 uc003qqs.3,p.R465H|uc010kjn.3,p.R135H|NM_024630,p.R480H|NM_153746,p.R465H|ENST00000414563,p.R465H|ENST00000359775,p.R480H|uc003qqt.3,p.R480H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010kjn.3 nonsynonymous SNV exon5 c.G404A p.R135H LASQDSLHEDSVRGLVKLSSV LASQDSLHEDSVHGLVKLSSV 6.0 9.0 - - 4284_6:158094126-158094126 G>A_LASQDSLHEDSVHGLVKLSSV 0.0 5:63256386-63256386 C>A 0.0 4284 COLORECTAL - - - - HTR1A uc011cqt.3,p.W387C|NM_000524,p.W387C|ENST00000323865,p.W387C protein_coding uc011cqt.3 nonsynonymous SNV exon1 c.G1161T p.W387C CHMPTLLGAIINWLGYSNSLLNPVI CHMPTLLGAIINCLGYSNSLLNPVI 2.0 9.0 - - 4284_5:63256386-63256386 C>A_CHMPTLLGAIINCLGYSNSLLNPVI 0.0 12:119961610-119961610 G>A 0.0 2591 MELANOMA - - - - CCDC60 uc001txe.3,p.E406K|NM_178499,p.E406K|ENST00000327554,p.E406K protein_coding, processed_transcript uc001txe.3 nonsynonymous SNV exon11 c.G1216A p.E406K AQEAGFCLQDKMEILMKRQEERGIQ AQEAGFCLQDKMKILMKRQEERGIQ 1.0 10.0 - - 2591_12:119961610-119961610 G>A_AQEAGFCLQDKMKILMKRQEERGIQ 0.0 19:18120604-18120604 C>T 1.0 3998 MELANOMA - - - - ARRDC2 uc002nhv.3,p.P202L|ENST00000379656,p.P197L|NM_001025604,p.P197L|uc002nhu.3,p.P197L|NM_001286826,p.P202L|NM_015683,p.P202L|ENST00000222250,p.P202L retained_intron, protein_coding, processed_transcript uc002nhv.3 nonsynonymous SNV exon5 c.C605T p.P202L IDRKGYTPGEVIPVFAEIDNGSTRP IDRKGYTPGEVILVFAEIDNGSTRP 7.0 6.0 - - 3998_19:18120604-18120604 C>T_IDRKGYTPGEVILVFAEIDNGSTRP 0.0 22:32134612-32134612 T>G 1.0 4335 COLORECTAL - - - - PRR14L ENST00000412743,p.T79P|ENST00000397493,p.T79P|uc003alp.4,p.T79P|ENST00000434485,p.T79P|ENST00000327423,p.T79P|NM_173566,p.T79P protein_coding, processed_transcript, nonsense_mediated_decay uc003alp.4 nonsynonymous SNV exon2 c.A235C p.T79P LQRTHVESCCEETYETLDHGSEPGR LQRTHVESCCEEPYETLDHGSEPGR 9.0 2.0 - - 4335_22:32134612-32134612 T>G_LQRTHVESCCEEPYETLDHGSEPGR 0.0 22:29876852-29876852 G>A 0.0 4326 BREAST - - - - NEFH ENST00000310624,p.A201T|uc003afo.3,p.A201T|NM_021076,p.A201T protein_coding uc003afo.3 nonsynonymous SNV exon1 c.G601A p.A201T ARQREEAEAAARALARFAQEAEAAR ARQREEAEAAARTLARFAQEAEAAR 5.0 8.0 - - 4326_22:29876852-29876852 G>A_ARQREEAEAAARTLARFAQEAEAAR 0.0 5:138378367-138378367 T>C 1.0 4213 COLORECTAL - - - - SIL1 ENST00000509534,p.K139R|NM_001037633,p.K132R|uc003ldo.3,p.K132R|uc003ldp.3,p.K132R|ENST00000265195,p.K132R|ENST00000508639,p.K132R|ENST00000394817,p.K132R|NM_022464,p.K132R protein_coding, processed_transcript uc003ldp.3 nonsynonymous SNV exon5 c.A395G p.K132R DINTNTYTSQDLKSALAKFKEGAEM DINTNTYTSQDLRSALAKFKEGAEM 10.0 5.0 - - 4213_5:138378367-138378367 T>C_DINTNTYTSQDLRSALAKFKEGAEM 0.0 4:47538713-47538713 C>T 0.0 3713 MELANOMA - - - - ATP10D uc003gxk.1,p.P385L|ENST00000273859,p.P385L|NM_020453,p.P385L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003gxk.1 nonsynonymous SNV exon9 c.C1154T p.P385L FWTMIILLQVLIPISLYVSIEIVKL FWTMIILLQVLILISLYVSIEIVKL 5.0 7.0 - - 3713_4:47538713-47538713 C>T_FWTMIILLQVLILISLYVSIEIVKL 0.0 20:43726631-43726631 C>T 0.0 4284 COLORECTAL - - - - KCNS1 uc002xnd.3,p.R261H|uc002xnc.3,p.R261H|ENST00000537075,p.R261H|NM_002251,p.R261H|ENST00000306117,p.R261H protein_coding uc002xnd.3 nonsynonymous SNV exon3 c.G782A p.R261H EAAAAVAAVAAGRSPEGVRDDPVLR EAAAAVAAVAAGHSPEGVRDDPVLR 4.0 2.0 - - 4284_20:43726631-43726631 C>T_EAAAAVAAVAAGHSPEGVRDDPVLR 0.0 9:114199363-114199363 G>A 1.0 4136 BREAST - - - - KIAA0368 ENST00000602447,p.R195C|NM_001080398,p.R367C|ENST00000338205,p.R189C|ENST00000259335,p.R367C|uc010muc.1,p.R189C|uc004bfe.1,p.R367C protein_coding, processed_transcript uc010muc.1 nonsynonymous SNV exon7 c.C565T p.R189C MPYGYVLNESQSRQNSSSAQGSSSN MPYGYVLNESQSCQNSSSAQGSSSN 10.0 4.0 - - 4136_9:114199363-114199363 G>A_MPYGYVLNESQSCQNSSSAQGSSSN 0.0 9:79318741-79318741 G>T 0.0 4129 NSCLC - - - - PRUNE2 NM_015225,p.D2596E|uc022bih.1,p.D2418E|uc004akj.4,p.D49E|ENST00000376718,p.D2596E|uc010mpl.1,p.D49E|ENST00000428286,p.D2237E|uc010mpk.3,p.D2596E protein_coding, processed_transcript uc022bih.1 nonsynonymous SNV exon8 c.C7254A p.D2418E TGLQGTQLASFPDTCQPASLNERKG TGLQGTQLASFPETCQPASLNERKG 4.0 10.0 - - 4129_9:79318741-79318741 G>T_TGLQGTQLASFPETCQPASLNERKG 0.0 21:37661492-37661492 C>T 1.0 2369 MELANOMA - - - - DOPEY2 ENST00000399151,p.P2168L|uc002yvg.3,p.P2168L|uc011aeb.2,p.P2117L|NM_005128,p.P2168L retained_intron, protein_coding, processed_transcript uc011aeb.2 nonsynonymous SNV exon33 c.C6350T p.P2117L LDTALSFPPDKMPLFQIYRWAFIPE LDTALSFPPDKMLLFQIYRWAFIPE 6.0 3.0 CD8 - 2369_21:37661492-37661492 C>T_LDTALSFPPDKMLLFQIYRWAFIPE 1.0 16:54967102-54967102 T>G 0.0 4298 COLORECTAL - - - - IRX5 NM_005853,p.S257A|ENST00000394636,p.S257A|uc002ehv.3,p.S257A|uc021tin.1,p.S256A|ENST00000320990,p.S256A|uc002ehw.3,p.S191A|ENST00000558597,p.S191A|NM_001252197,p.S256A protein_coding uc021tin.1 nonsynonymous SNV exon3 c.T766G p.S256A GSLSDSDFKEPPSEGRLDALQGPPR GSLSDSDFKEPPAEGRLDALQGPPR 5.0 6.0 - - 4298_16:54967102-54967102 T>G_GSLSDSDFKEPPAEGRLDALQGPPR 0.0 7:42005847-42005847 G>C 0.0 4158 COLORECTAL - - - - GLI3 NM_000168,p.P942A|uc011kbh.2,p.P942A|uc011kbg.2,p.P883A|ENST00000395925,p.P942A retained_intron, protein_coding, processed_transcript uc011kbh.2 nonsynonymous SNV exon15 c.C2824G p.P942A KAKYAAATGGPPPTPLPNMERMSLK KAKYAAATGGPPATPLPNMERMSLK 6.0 4.0 - - 4158_7:42005847-42005847 G>C_KAKYAAATGGPPATPLPNMERMSLK 0.0 10:55663064-55663064 T>G 0.0 4266 COLORECTAL - - - - PCDH15 NM_001142764,p.K1147T|uc010qhq.2,p.K1152T|ENST00000320301,p.K1147T|uc021pqw.1,p.K1159T|ENST00000414778,p.K1152T|uc010qhr.2,p.K1147T|uc010qhw.1,p.K1110T|ENST00000361849,p.K1147T|uc021pqz.1,p.K1125T|ENST00000395432,p.K1110T|NM_033056,p.K1147T|uc010qhz.1,p.K1147T|NM_001142767,p.K1110T|uc010qib.1,p.K1125T|NM_001142763,p.K1152T|uc021pqy.1,p.K1147T|NM_001142773,p.K1125T|NM_001142765,p.K1076T|ENST00000395445,p.K1154T|uc010qhv.1,p.K1147T|uc010qia.1,p.K1125T|ENST00000373965,p.K1154T|uc010qht.2,p.K1154T|ENST00000437009,p.K1076T|ENST00000395430,p.K1147T|NM_001142766,p.K1147T|uc021pqx.1,p.K1147T|uc001jju.1,p.K1147T|uc021pqv.1,p.K1147T|ENST00000395438,p.K1147T|ENST00000409834,p.K758T|NM_001142768,p.K1125T|ENST00000395433,p.K1125T|uc010qhy.1,p.K1152T|uc010qhx.1,p.K1076T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021pqz.1 nonsynonymous SNV exon24 c.A3374C p.K1125T QDENNHPPVFQKKFYIGGVSEDARM QDENNHPPVFQKTFYIGGVSEDARM 4.0 1.0 - - 4266_10:55663064-55663064 T>G_QDENNHPPVFQKTFYIGGVSEDARM 0.0 X:70354226-70354226 C>T 0.0 4158 COLORECTAL - - - 1 MED12 uc004dyy.3,p.T1546M|ENST00000439750,p.T291M|ENST00000333646,p.T1546M|ENST00000374080,p.T1546M|uc010nla.3,p.T172M|ENST00000374102,p.T1546M|uc011mpq.1,p.T1546M|NM_005120,p.T1546M|uc004dza.3,p.T1393M|ENST00000430072,p.T1514M|uc004dyz.3,p.T1546M protein_coding, processed_transcript uc011mpq.1 nonsynonymous SNV exon34 c.C4637T p.T1546M KLRLNLVGGMFDTVQRSTQQTTEWA KLRLNLVGGMFDMVQRSTQQTTEWA 7.0 8.0 - - 4158_X:70354226-70354226 C>T_KLRLNLVGGMFDMVQRSTQQTTEWA 0.0 12:69127366-69127366 G>A 1.0 3713 MELANOMA - - - - NUP107 ENST00000229179,p.E746K|uc001suf.3,p.E746K|uc001sug.3,p.E505K|NM_020401,p.E746K|uc010stj.2,p.E717K|ENST00000378905,p.E507K|ENST00000539906,p.E717K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010stj.2 nonsynonymous SNV exon24 c.G2149A p.E717K SPLPAEDDNAIREHLCIRAYLEAHE SPLPAEDDNAIRKHLCIRAYLEAHE 7.0 4.0 - - 3713_12:69127366-69127366 G>A_SPLPAEDDNAIRKHLCIRAYLEAHE 0.0 7:143884697-143884697 C>G 1.0 4244 COLORECTAL - - - - ARHGEF35 NM_001003702,p.Q260H|ENST00000378115,p.Q260H|ENST00000543357,p.Q260H|uc022aog.1,p.Q260H|uc003wdz.2,p.Q260H protein_coding uc022aog.1 nonsynonymous SNV exon1 c.G780C p.Q260H EDVCADGLLGEEQMIEQVNDEKGEQ EDVCADGLLGEEHMIEQVNDEKGEQ 7.0 4.0 - - 4244_7:143884697-143884697 C>G_EDVCADGLLGEEHMIEQVNDEKGEQ 0.0 17:36718116-36718116 T>A 0.0 4245 COLORECTAL - - - - SRCIN1 uc002hqd.3,p.K428M|ENST00000264659,p.K428M|uc002hqf.1,p.K300M|ENST00000578925,p.K462M|NM_025248,p.K428M|uc002hqh.1,p.K488M|uc002hqe.2,p.K282M retained_intron, protein_coding, processed_transcript uc002hqh.1 nonsynonymous SNV exon7 c.A1463T p.K488M DPFAYPGAGGLYKRGSVRSLSTYSA DPFAYPGAGGLYMRGSVRSLSTYSA 6.0 4.0 - - 4245_17:36718116-36718116 T>A_DPFAYPGAGGLYMRGSVRSLSTYSA 0.0 16:71113803-71113803 C>G 1.0 4326 BREAST - - - - HYDIN ENST00000393550,p.G575R|ENST00000545230,p.G363R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000545230 nonsynonymous SNV exon8 c.G1087C p.G363R PTFHFNVPALHFGDVSFATQELRDP PTFHFNVPALHFRDVSFATQELRDP 5.0 7.0 - - 4326_16:71113803-71113803 C>G_PTFHFNVPALHFRDVSFATQELRDP 0.0 3:41275274-41275274 G>T 1.0 4129 NSCLC - - - 1 CTNNB1 uc011azg.1,p.M408I|ENST00000453024,p.M473I|uc003ckp.2,p.M480I|ENST00000349496,p.M480I|uc003ckr.2,p.M480I|ENST00000405570,p.M480I|uc010hia.1,p.M480I|uc003cks.3,p.M83I|NM_001098210,p.M480I|ENST00000396185,p.M480I|uc003ckq.2,p.M480I|uc011azf.1,p.M473I|ENST00000396183,p.M480I|NM_001904,p.M480I|NM_001098209,p.M480I retained_intron, protein_coding, processed_transcript uc011azg.1 nonsynonymous SNV exon9 c.G1224T p.M408I LRHLTSRHQEAEMAQNAVRLHYGLP LRHLTSRHQEAEIAQNAVRLHYGLP 10.0 8.0 - - 4129_3:41275274-41275274 G>T_LRHLTSRHQEAEIAQNAVRLHYGLP 0.0 17:7256482-7256482 G>A 1.0 4245 COLORECTAL - - - - KCTD11 NM_001002914,p.R74Q|ENST00000333751,p.R74Q|uc002gge.4,p.R74Q protein_coding, processed_transcript uc002gge.4 nonsynonymous SNV exon1 c.G221A p.R74Q DFYQIRPLLDALRELEASQGTPAPT DFYQIRPLLDALQELEASQGTPAPT 7.0 9.0 - - 4245_17:7256482-7256482 G>A_DFYQIRPLLDALQELEASQGTPAPT 0.0 10:94836975-94836975 G>A 1.0 4252 COLORECTAL - - - - CYP26A1 ENST00000224356,p.G470R|ENST00000371531,p.G401R|NM_000783,p.G470R|NM_057157,p.G401R|uc001kik.1,p.G401R|uc001kil.2,p.G470R|ENST00000394139,p.G401R protein_coding uc001kil.2 nonsynonymous SNV exon7 c.G1408A p.G470R ELARHCDWQLLNGPPTMKTSPTVYP ELARHCDWQLLNRPPTMKTSPTVYP 5.0 6.0 - - 4252_10:94836975-94836975 G>A_ELARHCDWQLLNRPPTMKTSPTVYP 0.0 12:25398284-25398284 C>A 1.0 4316 COLORECTAL - - ID=COSM1140133,COSM520;OCCURENCE=24(skin),10(breast),24(small_intestine),17(urinary_tract),2(genital_tract),2(kidney),1(eye),5(liver),1402(pancreas),39(prostate),110(biliary_tract),4060(large_intestine),1(autonomic_ganglia),245(ovary),4(soft_tissue),102(endometrium),13(thyroid),13(peritoneum),878(lung),6(testis),8(cervix),36(haematopoietic_and_lymphoid_tissue),2(pleura),9(gastrointestinal_tract_(site_indeterminate)),1(central_nervous_system),32(stomach),2(thymus),3(upper_aerodigestive_tract),4(oesophagus) 1 KRAS NM_004985,p.G12V|uc001rgp.1,p.G12V|ENST00000311936,p.G12V|ENST00000556131,p.G12V|NM_033360,p.G12V|ENST00000557334,p.G12V|ENST00000256078,p.G12V|uc001rgq.1,p.G12V protein_coding uc001rgq.1 nonsynonymous SNV exon2 c.G35T p.G12V MTEYKLVVVGAGGVGKSALTIQLI MTEYKLVVVGAVGVGKSALTIQLI 6.0 8.0 - - 4316_12:25398284-25398284 C>A_MTEYKLVVVGAVGVGKSALTIQLI 0.0 10:44140025-44140025 G>A 1.0 3713 MELANOMA - - - - ZNF32 ENST00000374433,p.H99Y|uc001jbb.3,p.H99Y|uc001jbc.3,p.H99Y|NM_006973,p.H99Y|NM_001005368,p.H99Y|ENST00000395797,p.H99Y protein_coding, processed_transcript uc001jbc.3 nonsynonymous SNV exon3 c.C295T p.H99Y RQKGSLTLHERIHTGQKPFECTHCG RQKGSLTLHERIYTGQKPFECTHCG 8.0 9.0 - - 3713_10:44140025-44140025 G>A_RQKGSLTLHERIYTGQKPFECTHCG 0.0 16:87870183-87870183 T>C 1.0 4335 COLORECTAL - - - - SLC7A5 ENST00000565644,p.N138S|uc002fkm.3,p.N404S|NM_003486,p.N404S|ENST00000261622,p.N404S retained_intron, protein_coding uc002fkm.3 nonsynonymous SNV exon8 c.A1211G p.N404S DIFSVINFFSFFNWLCVALAIIGMI DIFSVINFFSFFSWLCVALAIIGMI 9.0 10.0 - - 4335_16:87870183-87870183 T>C_DIFSVINFFSFFSWLCVALAIIGMI 0.0 4:145039891-145039891 G>T 0.0 4258 ENDOMETRIAL - - - - GYPA uc010ior.3,p.L18I|ENST00000512789,p.L18I retained_intron, protein_coding, nonsense_mediated_decay uc010ior.3 nonsynonymous SNV exon2 c.C52A p.L18I IFVLLLSGERVQLAHHFSEPEITLI IFVLLLSGERVQIAHHFSEPEITLI 1.0 9.0 - - 4258_4:145039891-145039891 G>T_IFVLLLSGERVQIAHHFSEPEITLI 0.0 16:66885432-66885432 G>A 0.0 4252 COLORECTAL - - - - CA7 uc002eqi.3,p.G142S|ENST00000394069,p.G86S|uc002eqj.3,p.G86S|NM_005182,p.G142S|ENST00000338437,p.G142S|NM_001014435,p.G86S protein_coding, nonsense_mediated_decay uc002eqj.3 nonsynonymous SNV exon4 c.G256A p.G86S YSTFGEAASAPDGLAVVGVFLETGD YSTFGEAASAPDSLAVVGVFLETGD 4.0 9.0 - - 4252_16:66885432-66885432 G>A_YSTFGEAASAPDSLAVVGVFLETGD 0.0 6:2765890-2765890 C>A 1.0 4095 COLORECTAL - - - - WRNIP1 uc003mua.3,p.L12I|ENST00000380773,p.L12I|NM_020135,p.L12I|uc003mtz.3,p.L12I|NM_130395,p.L12I|ENST00000380771,p.L12I protein_coding uc003mua.3 nonsynonymous SNV exon1 c.C34A p.L12I MEVSGPEDDPFLSQLHQVQCPVCQ MEVSGPEDDPFISQLHQVQCPVCQ 9.0 9.0 - - 4095_6:2765890-2765890 C>A_MEVSGPEDDPFISQLHQVQCPVCQ 0.0 17:72888801-72888801 C>T 0.0 4110 BILE DUCT - - - - FADS6 ENST00000310226,p.R69H|uc002jmd.1,p.R69H retained_intron, protein_coding uc002jmd.1 nonsynonymous SNV exon2 c.G206A p.R69H SLFALPAGFLCLRWENALVFASGIT SLFALPAGFLCLHWENALVFASGIT 2.0 8.0 - - 4110_17:72888801-72888801 C>T_SLFALPAGFLCLHWENALVFASGIT 0.0 19:51645978-51645978 G>T 0.0 4266 COLORECTAL - - - - SIGLEC7 ENST00000601682,p.A118S|ENST00000536156,p.A118S|uc002pvv.1,p.A118S|uc010eor.1,p.A118S|NM_001277201,p.A118S|NM_014385,p.A118S|uc002pvw.1,p.A118S|ENST00000600577,p.A118S|ENST00000317643,p.A118S|NM_016543,p.A118S|ENST00000305628,p.A118S retained_intron, protein_coding, nonsense_mediated_decay uc010eor.1 nonsynonymous SNV exon1 c.G352T p.A118S CTLSIRDARMSDAGRYFFRMEKGNI CTLSIRDARMSDSGRYFFRMEKGNI 5.0 3.0 - - 4266_19:51645978-51645978 G>T_CTLSIRDARMSDSGRYFFRMEKGNI 0.0 1:156128577-156128577 C>T 0.0 4155 MELANOMA - - - - SEMA4A NM_022367,p.P177L|NM_001193301,p.P177L|uc001fno.3,p.P177L|ENST00000368282,p.P177L|uc001fnn.3,p.P45L|ENST00000438830,p.P144L|ENST00000368285,p.P177L|uc009wrq.3,p.P177L|ENST00000368286,p.P45L|ENST00000435124,p.P177L|ENST00000355014,p.P177L|NM_001193300,p.P177L|uc001fnl.3,p.P177L|ENST00000368284,p.P45L|uc001fnm.3,p.P177L|ENST00000414683,p.P78L|NM_001193302,p.P45L protein_coding, processed_transcript uc009wrq.3 nonsynonymous SNV exon6 c.C530T p.P177L SEDKVMEGKGQSPFDPAHKHTAVLV SEDKVMEGKGQSLFDPAHKHTAVLV 7.0 4.0 - - 4155_1:156128577-156128577 C>T_SEDKVMEGKGQSLFDPAHKHTAVLV 0.0 1:214170833-214170833 G>A 1.0 2556 MELANOMA - - - - PROX1 ENST00000498508,p.E319K|uc001hkg.2,p.E319K|uc001hkh.4,p.E319K|ENST00000366958,p.E319K|ENST00000435016,p.E319K|NM_001270616,p.E319K|ENST00000261454,p.E319K|NM_002763,p.E319K protein_coding uc001hkh.4 nonsynonymous SNV exon2 c.G955A p.E319K FIDRARALIREQEMAENKPKREGNN FIDRARALIREQKMAENKPKREGNN 8.0 1.0 - - 2556_1:214170833-214170833 G>A_FIDRARALIREQKMAENKPKREGNN 0.0 17:26874328-26874328 C>T 1.0 4000 MELANOMA - - - - UNC119 NM_005148,p.S237N|uc002hbk.2,p.S237N|ENST00000484980,p.S142N|ENST00000335765,p.S237N retained_intron, protein_coding uc002hbk.2 nonsynonymous SNV exon5 c.G710A p.S237N RLVMHNKADYSYSGTP RLVMHNKADYSYNGTP 8.0 6.0 - - 4000_17:26874328-26874328 C>T_RLVMHNKADYSYNGTP 0.0 17:58945948-58945948 C>T 1.0 3713 MELANOMA - - - - BCAS3 ENST00000588462,p.P163L|ENST00000390652,p.P163L|NM_017679,p.P163L|ENST00000408905,p.P163L|uc002iyw.4,p.P159L|ENST00000589222,p.P163L|NM_001099432,p.P163L|ENST00000407086,p.P163L|uc002iyv.4,p.P163L|uc002iyu.4,p.P163L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002iyw.4 nonsynonymous SNV exon8 c.C476T p.P159L VCKSIGSSGTSPPYCCVDLYSLRTG VCKSIGSSGTSPLYCCVDLYSLRTG 8.0 9.0 - - 3713_17:58945948-58945948 C>T_VCKSIGSSGTSPLYCCVDLYSLRTG 0.0 19:33167719-33167719 G>A 0.0 4240 BREAST - - - - RGS9BP uc002ntp.1,p.E184K|ENST00000334176,p.E184K|NM_207391,p.E184K protein_coding uc002ntp.1 nonsynonymous SNV exon1 c.G550A p.E184K RWTVQARQAAGAELLSTVSAGPSSV RWTVQARQAAGAKLLSTVSAGPSSV 4.0 9.0 - - 4240_19:33167719-33167719 G>A_RWTVQARQAAGAKLLSTVSAGPSSV 0.0 16:81916938-81916938 G>A 0.0 4301 MELANOMA - - - - PLCG2 uc010chg.1,p.E253K|uc002fgt.3,p.E253K|NM_002661,p.E253K|ENST00000359376,p.E253K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010chg.1 nonsynonymous SNV exon8 c.G757A p.E253K VYLHDFQRFLIHEQQEHWAQDLNKV VYLHDFQRFLIHKQQEHWAQDLNKV 10.0 5.0 - - 4301_16:81916938-81916938 G>A_VYLHDFQRFLIHKQQEHWAQDLNKV 0.0 2:71205921-71205921 C>G 1.0 4284 COLORECTAL - - - - ANKRD53 ENST00000360589,p.T49S|NM_024933,p.T49S|NM_001115116,p.T49S|uc002shk.4,p.T49S|ENST00000272421,p.T49S|uc002shl.4,p.T49S retained_intron, protein_coding uc002shl.4 nonsynonymous SNV exon1 c.C146G p.T49S QQANKVSLKATWTDAESKQPSQPLP QQANKVSLKATWSDAESKQPSQPLP 4.0 9.0 - - 4284_2:71205921-71205921 C>G_QQANKVSLKATWSDAESKQPSQPLP 0.0 14:57938299-57938299 T>A 0.0 4196 COLORECTAL - - - - C14orf105 uc010trl.1,p.K262M|NM_001283056,p.K262M|ENST00000422976,p.K262M retained_intron, protein_coding, nonsense_mediated_decay uc010trl.1 nonsynonymous SNV exon7 c.A785T p.K262M SASRVAGITGNSKNTEFLKHQAVNN SASRVAGITGNSMNTEFLKHQAVNN 5.0 8.0 - - 4196_14:57938299-57938299 T>A_SASRVAGITGNSMNTEFLKHQAVNN 0.0 2:32673897-32673897 C>T 1.0 3466 MELANOMA - - - 2 BIRC6 ENST00000421745,p.L1507F|NM_016252,p.L1507F|uc010ezu.3,p.L1507F retained_intron, protein_coding, nonsense_mediated_decay uc010ezu.3 nonsynonymous SNV exon22 c.C4519T p.L1507F RYGLYSSPFDPVLFDLEMSGSSCKN RYGLYSSPFDPVFFDLEMSGSSCKN 9.0 1.0 - - 3466_2:32673897-32673897 C>T_RYGLYSSPFDPVFFDLEMSGSSCKN 0.0 12:78513190-78513190 G>A 1.0 3713 MELANOMA - - - - NAV3 uc001syo.3,p.G1072R|ENST00000397909,p.G1072R|ENST00000536525,p.G1072R|ENST00000266692,p.G1072R|NM_001024383,p.G1072R|uc009zsf.3,p.G80R|uc001syp.3,p.G1072R|ENST00000228327,p.G1072R|uc010sub.2,p.G572R|NM_014903,p.G1072R retained_intron, protein_coding, processed_transcript uc010sub.2 nonsynonymous SNV exon7 c.G1714A p.G572R TATSSFGFKKPSGVGSSAMITSSGA TATSSFGFKKPSRVGSSAMITSSGA 4.0 6.0 - - 3713_12:78513190-78513190 G>A_TATSSFGFKKPSRVGSSAMITSSGA 0.0 17:7012100-7012100 C>G 0.0 4237 NSCLC - - - - ASGR2 NM_001201352,p.G78R|uc010clw.2,p.G59R|ENST00000254850,p.G59R|uc002geo.2,p.G78R|NM_080913,p.G59R|uc002geq.3,p.G59R|ENST00000574868,p.G78R retained_intron, protein_coding, nonsense_mediated_decay uc010clw.2 nonsynonymous SNV exon3 c.G175C p.G59R FNILLLVVICVTGSQSAQLQAELRS FNILLLVVICVTRSQSAQLQAELRS 5.0 9.0 - - 4237_17:7012100-7012100 C>G_FNILLLVVICVTRSQSAQLQAELRS 0.0 3:105258914-105258914 C>T 1.0 3713 MELANOMA - - - - ALCAM uc003dvy.3,p.P276S|NM_001243280,p.P276S|ENST00000472644,p.P276S|NM_001243281,p.P276S|ENST00000306107,p.P276S|NM_001627,p.P276S|ENST00000486979,p.P225S|uc003dvw.2,p.P276S|uc011bhh.1,p.P225S|uc003dvx.3,p.P276S retained_intron, protein_coding, processed_transcript uc011bhh.1 nonsynonymous SNV exon8 c.C673T p.P225S DNITLKCLGNGNPPPEEFLFYLPGQ DNITLKCLGNGNSPPEEFLFYLPGQ 6.0 9.0 - - 3713_3:105258914-105258914 C>T_DNITLKCLGNGNSPPEEFLFYLPGQ 0.0 6:37619945-37619945 A>C 0.0 4110 BILE DUCT - - - - MDGA1 NM_153487,p.L385R|ENST00000297153,p.L385R|ENST00000434837,p.L385R|uc003onu.1,p.L385R|ENST00000505425,p.L385R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003onu.1 nonsynonymous SNV exon7 c.T1154G p.L385R KNGKPARMSKRLLVTRNDPELPAVT KNGKPARMSKRLRVTRNDPELPAVT 6.0 5.0 - - 4110_6:37619945-37619945 A>C_KNGKPARMSKRLRVTRNDPELPAVT 0.0 X:101139223-101139223 G>T 0.0 4316 COLORECTAL - - - - ZMAT1 uc011mrm.2,p.F221L|NM_001282401,p.F221L|NM_001011657,p.F392L|uc011mrl.2,p.F392L|uc004eim.3,p.F221L|ENST00000540921,p.F392L|ENST00000372782,p.F392L|uc004ein.3,p.F221L|NM_001282400,p.F221L|ENST00000458570,p.F221L protein_coding, processed_transcript uc011mrm.2 nonsynonymous SNV exon9 c.C663A p.F221L WLPTHSKRTYDSFQDELEDYIKVQK WLPTHSKRTYDSLQDELEDYIKVQK 3.0 10.0 - - 4316_X:101139223-101139223 G>T_WLPTHSKRTYDSLQDELEDYIKVQK 0.0 X:44918698-44918698 T>G 1.0 4177 PANCREATIC - - - 1 KDM6A uc011mlb.2,p.I394S|ENST00000382899,p.I394S|NM_001291416,p.I394S|uc011mld.2,p.I60S protein_coding, processed_transcript uc011mld.2 nonsynonymous SNV exon2 c.T179G p.I60S KSCSNTSALAARIKYLQACKPHHPN KSCSNTSALAARSKYLQACKPHHPN 7.0 10.0 - - 4177_X:44918698-44918698 T>G_KSCSNTSALAARSKYLQACKPHHPN 0.0 3:155206530-155206530 G>A 0.0 3775 CERVICAL - - ID=COSM1420168,COSM1420169;OCCURENCE=1(large_intestine) - PLCH1 ENST00000494598,p.R808W|NM_001130961,p.R808W|uc021xgf.1,p.R790W|NM_014996,p.R790W|NM_001130960,p.R808W|ENST00000460012,p.R790W|ENST00000340059,p.R808W|ENST00000334686,p.R790W|ENST00000414191,p.R790W|uc021xge.1,p.R808W|ENST00000447496,p.R808W|uc021xgd.1,p.R808W retained_intron, protein_coding uc021xgf.1 nonsynonymous SNV exon19 c.C2368T p.R790W TFTVHMPEIALVRFLVWDHDPIGRD TFTVHMPEIALVWFLVWDHDPIGRD 3.0 6.0 - - 3775_3:155206530-155206530 G>A_TFTVHMPEIALVWFLVWDHDPIGRD 0.0 14:34269794-34269794 G>A 0.0 4284 COLORECTAL - - - - NPAS3 ENST00000551634,p.G735R|ENST00000357798,p.G748R|ENST00000356141,p.G761R|NM_022123,p.G729R|uc001wru.3,p.G761R|ENST00000551492,p.G766R|NM_001164749,p.G761R|ENST00000548645,p.G731R|uc001wrv.3,p.G731R|ENST00000346562,p.G729R|NM_173159,p.G748R|NM_001165893,p.G731R|uc001wrt.3,p.G729R|uc001wrs.3,p.G748R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001wrv.3 nonsynonymous SNV exon11 c.G2191A p.G731R PPLSASPRDKHPGNGGGGGGGGGGA PPLSASPRDKHPRNGGGGGGGGGGA 4.0 7.0 - - 4284_14:34269794-34269794 G>A_PPLSASPRDKHPRNGGGGGGGGGGA 0.0 12:110765611-110765611 A>G 1.0 4136 BREAST - - - - ATP2A2 ENST00000395494,p.Y268C|ENST00000308664,p.Y295C|NM_170665,p.Y295C|uc021rdt.1,p.Y143C|uc001tql.4,p.Y295C|uc001tqk.4,p.Y295C|ENST00000539276,p.Y295C|NM_001681,p.Y295C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021rdt.1 nonsynonymous SNV exon4 c.A428G p.Y143C VHGGSWIRGAIYYFKIAVALAVAAI VHGGSWIRGAIYCFKIAVALAVAAI 9.0 8.0 - - 4136_12:110765611-110765611 A>G_VHGGSWIRGAIYCFKIAVALAVAAI 0.0 5:60194173-60194173 A>T 1.0 4345 COLORECTAL - - - - ERCC8 NM_001290285,p.L105H|uc011cqp.1,p.L105H|uc003jsl.3,p.L200H|ENST00000543101,p.L105H|ENST00000265038,p.L258H|uc003jsm.3,p.L258H|ENST00000426742,p.L200H|NM_000082,p.L258H|NM_001007233,p.L200H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cqp.1 nonsynonymous SNV exon8 c.T314A p.L105H GKVNGLCFTSDGLHLLTVGTDNRMR GKVNGLCFTSDGHHLLTVGTDNRMR 6.0 6.0 - - 4345_5:60194173-60194173 A>T_GKVNGLCFTSDGHHLLTVGTDNRMR 0.0 6:78172849-78172849 A>G 0.0 4213 COLORECTAL - - - - HTR1B uc003pil.1,p.L91P|ENST00000369947,p.L91P|NM_000863,p.L91P protein_coding uc003pil.1 nonsynonymous SNV exon1 c.T272C p.L91P KLHTPANYLIASLAVTDLLVSILVM KLHTPANYLIASPAVTDLLVSILVM 5.0 4.0 - - 4213_6:78172849-78172849 A>G_KLHTPANYLIASPAVTDLLVSILVM 0.0 6:7571685-7571685 A>G 1.0 4180 BREAST - - - - DSP uc021yle.1,p.I591V|uc003mxp.1,p.I591V|ENST00000379802,p.I591V|NM_004415,p.I591V|uc003mxq.1,p.I591V|NM_001008844,p.I591V|ENST00000418664,p.I591V retained_intron, protein_coding uc021yle.1 nonsynonymous SNV exon14 c.A1771G p.I591V TIADLELHYQEFIRNSQGSEMFGDD TIADLELHYQEFVRNSQGSEMFGDD 10.0 8.0 - - 4180_6:7571685-7571685 A>G_TIADLELHYQEFVRNSQGSEMFGDD 0.0 X:49019235-49019235 C>T 0.0 3775 CERVICAL - - - - MAGIX NM_001099681,p.P3L|NM_024859,p.P3L|NM_001099682,p.P3L protein_coding, processed_transcript NM_024859 nonsynonymous SNV exon1 c.C8T p.P3L MEPRTGDAADPRGSR MELRTGDAADPRGSR 4.0 5.0 - - 3775_X:49019235-49019235 C>T_MELRTGDAADPRGSR 0.0 19:17323022-17323022 C>T 1.0 3466 MELANOMA - - - - MYO9B ENST00000594824,p.P2126L|uc010eak.3,p.P2126L|NM_004145,p.P2126L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010eak.3 nonsynonymous SNV exon40 c.C6377T p.P2126L PGADLPVQGALEPLEEDGQPPGAKR PGADLPVQGALELLEEDGQPPGAKR 10.0 8.0 - - 3466_19:17323022-17323022 C>T_PGADLPVQGALELLEEDGQPPGAKR 0.0 14:103434693-103434693 T>G 1.0 4298 COLORECTAL - - - - CDC42BPB NM_006035,p.H748P|uc001ymi.1,p.H748P|ENST00000361246,p.H748P retained_intron, protein_coding uc001ymi.1 nonsynonymous SNV exon16 c.A2243C p.H748P LKDKLEKSKRERHNEMEEAVGTIKD LKDKLEKSKRERPNEMEEAVGTIKD 9.0 3.0 - - 4298_14:103434693-103434693 T>G_LKDKLEKSKRERPNEMEEAVGTIKD 0.0 6:97246395-97246395 G>A 0.0 4287 COLORECTAL - - ID=COSM1208730;OCCURENCE=1(large_intestine),1(breast) - GPR63 uc003pou.3,p.R405C|uc010kcl.3,p.R405C|NM_001143957,p.R405C|uc021zcy.1,p.R405C|ENST00000417980,p.R405C|ENST00000229955,p.R405C|NM_030784,p.R405C protein_coding uc021zcy.1 nonsynonymous SNV exon1 c.C1213T p.R405C LPQLPGHTKRRIRPSAVYVCGEHRT LPQLPGHTKRRICPSAVYVCGEHRT 3.0 9.0 - - 4287_6:97246395-97246395 G>A_LPQLPGHTKRRICPSAVYVCGEHRT 0.0 9:130167784-130167784 C>G 0.0 3775 CERVICAL - - - - SLC2A8 NM_001271712,p.I249M|ENST00000373371,p.I412M|uc031tfc.1,p.I249M|ENST00000451404,p.I249M|uc004bqu.4,p.I412M|NM_014580,p.I412M|ENST00000373352,p.I149M|uc031tfd.1,p.I149M|ENST00000430147,p.I251M protein_coding, processed_transcript uc031tfd.1 nonsynonymous SNV exon6 c.C447G p.I149M IFPLHVKGVATGICVLTNWLMAFLV IFPLHVKGVATGMCVLTNWLMAFLV 7.0 7.0 - - 3775_9:130167784-130167784 C>G_IFPLHVKGVATGMCVLTNWLMAFLV 0.0 7:93516672-93516672 G>C 0.0 4278 COLORECTAL - - - - TFPI2 ENST00000222543,p.P178A|NM_006528,p.P178A|uc003una.2,p.P167A|NM_001271003,p.P167A|uc003umy.2,p.P178A retained_intron, protein_coding uc003una.2 nonsynonymous SNV exon4 c.C499G p.P167A LCSANVTRYYFNPRYRTCDAFTYTG LCSANVTRYYFNARYRTCDAFTYTG 5.0 2.0 - - 4278_7:93516672-93516672 G>C_LCSANVTRYYFNARYRTCDAFTYTG 0.0 20:31887744-31887744 T>A 0.0 4259 COLORECTAL - - - - BPIFB1 ENST00000253354,p.L234H|uc031rst.1,p.L65H|uc002wyw.1,p.L234H|NM_033197,p.L234H protein_coding, processed_transcript uc031rst.1 nonsynonymous SNV exon3 c.T194A p.L65H PISLSIDRLEFDLLYPAIKGDTIQL PISLSIDRLEFDHLYPAIKGDTIQL 2.0 3.0 - - 4259_20:31887744-31887744 T>A_PISLSIDRLEFDHLYPAIKGDTIQL 0.0 2:210742691-210742691 G>A 0.0 4238 COLORECTAL - - - - UNC80 NM_182587,p.R1282Q|ENST00000439458,p.R1287Q|uc021vvx.1,p.R1282Q|uc010zjc.1,p.R1287Q|ENST00000272845,p.R1282Q|uc002vdk.2,p.R448Q|NM_032504,p.R1287Q retained_intron, protein_coding, processed_transcript uc021vvx.1 nonsynonymous SNV exon24 c.G3845A p.R1282Q KLFYQWGDAIGVRLNELCHGESESP KLFYQWGDAIGVQLNELCHGESESP 1.0 6.0 - - 4238_2:210742691-210742691 G>A_KLFYQWGDAIGVQLNELCHGESESP 0.0 10:33017818-33017818 G>A 0.0 4235 COLORECTAL - - ID=COSM3774493,COSM3774492;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) - CCDC7 uc001iwm.1,p.R174H|uc001iwn.4,p.R198H|NM_024688,p.R198H|uc001iwl.1,p.R206H|ENST00000375028,p.R174H|ENST00000375030,p.R206H|ENST00000302316,p.R198H|ENST00000375025,p.R198H protein_coding, processed_transcript, nonsense_mediated_decay uc001iwn.4 nonsynonymous SNV exon9 c.G593A p.R198H KKITPGRERRNTRIVVPNENVISVH KKITPGRERRNTHIVVPNENVISVH 3.0 8.0 - - 4235_10:33017818-33017818 G>A_KKITPGRERRNTHIVVPNENVISVH 0.0 9:34521585-34521585 G>A 1.0 3713 MELANOMA - - - - ENHO uc003zun.1,p.R37C|NM_198573,p.R37C|ENST00000399775,p.R37C|uc022bgf.1,p.R37C protein_coding uc022bgf.1 nonsynonymous SNV exon1 c.C109T p.R37C LLWVILCWACHSRSADVDSLSESSP LLWVILCWACHSCSADVDSLSESSP 4.0 8.0 - - 3713_9:34521585-34521585 G>A_LLWVILCWACHSCSADVDSLSESSP 0.0 13:33017202-33017202 C>A 1.0 4275 COLORECTAL - - - - N4BP2L2 uc001uug.2,p.R374M|ENST00000357505,p.R476M|ENST00000504114,p.R476M|uc010abd.1,p.R404M|uc001uuh.2,p.R322M|ENST00000399396,p.R491M|uc010tdz.1,p.R476M|NM_033111,p.R491M|uc010abe.1,p.R491M|NM_001278432,p.R476M retained_intron, protein_coding, processed_transcript uc010tdz.1 nonsynonymous SNV exon7 c.G1427T p.R476M LESTKNKKRRKKRIFNLVPNFDLLG LESTKNKKRRKKMIFNLVPNFDLLG 9.0 3.0 - - 4275_13:33017202-33017202 C>A_LESTKNKKRRKKMIFNLVPNFDLLG 0.0 7:6066495-6066495 C>A 1.0 4345 COLORECTAL - - - - EIF2AK1 ENST00000199389,p.G543V|uc003spq.3,p.G542V|uc003spp.3,p.G543V|ENST00000536084,p.G419V|NM_001134335,p.G542V|NM_014413,p.G543V|uc011jwm.1,p.G419V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011jwm.1 nonsynonymous SNV exon13 c.G1256T p.G419V MERAEVLTGLRTGQLPESLRKRCPV MERAEVLTGLRTVQLPESLRKRCPV 10.0 4.0 - - 4345_7:6066495-6066495 C>A_MERAEVLTGLRTVQLPESLRKRCPV 0.0 2:53955854-53955854 G>A 1.0 3466 MELANOMA - - - - ASB3,GPR75-ASB3 uc021vhl.1,p.S127L|uc002rxh.2,p.S127L|NM_145863,p.S127L|ENST00000406687,p.S127L|NM_016115,p.S200L|ENST00000394717,p.S127L|uc002rxg.2,p.S200L|ENST00000352846,p.S238L|ENST00000406625,p.S235L|uc002rxi.4,p.S238L|NM_001164165,p.S238L|ENST00000263634,p.S200L|NM_001201965,p.S127L processed_transcript,retained_intron, protein_coding uc021vhl.1 nonsynonymous SNV exon4 c.C380T p.S127L QYGKLESLSILISSGANVNCQALDK QYGKLESLSILILSGANVNCQALDK 7.0 7.0 - - 3466_2:53955854-53955854 G>A_QYGKLESLSILILSGANVNCQALDK 0.0 7:31378078-31378078 C>T 0.0 3903 MELANOMA - - - - NEUROD6 uc003tch.4,p.G269R|ENST00000297142,p.G269R|uc022abi.1,p.G269R|NM_022728,p.G269R protein_coding uc022abi.1 nonsynonymous SNV exon1 c.G805A p.G269R EGPLSPPPINYNGIFSLKQEETLDY EGPLSPPPINYNRIFSLKQEETLDY 1.0 10.0 - - 3903_7:31378078-31378078 C>T_EGPLSPPPINYNRIFSLKQEETLDY 0.0 19:39002982-39002982 C>T 0.0 4186 BREAST - - - - RYR1 ENST00000355481,p.R3111W|NM_001042723,p.R3111W|uc002oiu.3,p.R3111W|ENST00000359596,p.R3111W|uc010xuf.1,p.R31W|NM_000540,p.R3111W|ENST00000360985,p.R3111W|uc002oit.3,p.R3111W retained_intron, protein_coding, nonsense_mediated_decay uc010xuf.1 nonsynonymous SNV exon2 c.C91T p.R31W ASEDIEKMVENLRLGKVSQARTQVK ASEDIEKMVENLWLGKVSQARTQVK 1.0 9.0 - - 4186_19:39002982-39002982 C>T_ASEDIEKMVENLWLGKVSQARTQVK 0.0 18:56414805-56414805 C>T 1.0 3713 MELANOMA - - - 1 MALT1 ENST00000345724,p.P725S|ENST00000348428,p.P736S|NM_006785,p.P736S|uc002lhm.1,p.P736S|NM_173844,p.P725S|uc002lhn.1,p.P725S retained_intron, protein_coding uc002lhn.1 nonsynonymous SNV exon16 c.C2173T p.P725S KTCFQTCLMSNGPYQSSAATSGGAG KTCFQTCLMSNGSYQSSAATSGGAG 6.0 5.0 - - 3713_18:56414805-56414805 C>T_KTCFQTCLMSNGSYQSSAATSGGAG 0.0 6:31624294-31624294 G>C 1.0 4240 BREAST - - - - APOM NM_019101,p.A54P|ENST00000375916,p.A54P|uc003nvl.3,p.A54P protein_coding uc003nvl.3 nonsynonymous SNV exon2 c.G160C p.A54P VHLGQWYFIAGAAPTKEELATFDPV VHLGQWYFIAGAPPTKEELATFDPV 8.0 9.0 - - 4240_6:31624294-31624294 G>C_VHLGQWYFIAGAPPTKEELATFDPV 0.0 14:76088503-76088503 A>G 1.0 4129 NSCLC - - - - FLVCR2 NM_017791,p.S251G|uc001xrs.2,p.S251G|uc010tvd.1,p.S46G|ENST00000539311,p.S46G|NM_001195283,p.S46G|ENST00000238667,p.S251G retained_intron, protein_coding, processed_transcript uc010tvd.1 nonsynonymous SNV exon2 c.A136G p.S46G NIEDRDELAYHISIMFYIIGGVATL NIEDRDELAYHIGIMFYIIGGVATL 8.0 8.0 - - 4129_14:76088503-76088503 A>G_NIEDRDELAYHIGIMFYIIGGVATL 0.0 17:17801968-17801968 G>A 1.0 2369 MELANOMA - - ID=COSM1720744,COSM1720743;OCCURENCE=2(NS) - TOM1L2 uc010vwy.2,p.A53V|NM_001288789,p.A53V|ENST00000379504,p.A53V|uc010vxb.2,p.A53V|ENST00000395739,p.A53V|ENST00000542206,p.A53V|ENST00000579586,p.A20V|ENST00000535933,p.A53V|uc010vxa.2,p.A53V|NM_001082968,p.A53V|uc002grz.4,p.A53V|ENST00000540946,p.A53V|NM_001288788,p.A53V|uc010cpr.3,p.A53V|ENST00000581396,p.A53V|NM_001288787,p.A53V|NM_001288786,p.A53V|uc010vwz.2,p.A53V|uc002gry.4,p.A53V|ENST00000318094,p.A53V|NM_001033551,p.A53V retained_intron, protein_coding, processed_transcript uc010vxb.2 nonsynonymous SNV exon3 c.C158T p.A53V NETEEGPKDAIRALKKRLNGNRNYR NETEEGPKDAIRVLKKRLNGNRNYR 7.0 9.0 - - 2369_17:17801968-17801968 G>A_NETEEGPKDAIRVLKKRLNGNRNYR 0.0 5:93820600-93820600 A>C 0.0 4266 COLORECTAL - - - - KIAA0825 ENST00000513200,p.S336A|NM_001145678,p.S336A|ENST00000312498,p.S336A|ENST00000427991,p.S336A|uc011cuk.2,p.S336A retained_intron, protein_coding, processed_transcript uc011cuk.2 nonsynonymous SNV exon6 c.T1006G p.S336A VTTECPQKGRNFSLPLDKVEFLSQL VTTECPQKGRNFALPLDKVEFLSQL 4.0 5.0 - - 4266_5:93820600-93820600 A>C_VTTECPQKGRNFALPLDKVEFLSQL 0.0 10:27822678-27822678 A>G 1.0 4037 NSCLC - - ID=COSM1222906;OCCURENCE=1(large_intestine) - RAB18 NM_021252,p.R92G|NM_001256415,p.R68G|NM_001256411,p.R92G|uc001itw.4,p.R121G|uc001itv.4,p.R92G|uc031ptn.1,p.R68G|uc010qdq.3,p.R92G|ENST00000356940,p.R92G|NM_001256410,p.R121G protein_coding, processed_transcript uc031ptn.1 nonsynonymous SNV exon4 c.A202G p.R68G GAQGVILVYDVTRRDTFVKLDNWLN GAQGVILVYDVTGRDTFVKLDNWLN 10.0 7.0 - - 4037_10:27822678-27822678 A>G_GAQGVILVYDVTGRDTFVKLDNWLN 0.0 1:32745698-32745698 A>C 0.0 4238 COLORECTAL - - - 1 LCK ENST00000373564,p.K412T|NM_001042771,p.K405T|uc001bux.3,p.K405T|NM_005356,p.K405T|ENST00000336890,p.K405T|ENST00000333070,p.K435T|uc001bva.3,p.K412T|uc010ohc.1,p.K449T|uc001buy.3,p.K405T|uc001buz.3,p.K435T retained_intron, protein_coding uc010ohc.1 nonsynonymous SNV exon11 c.A1346C p.K449T EYTAREGAKFPIKWTAPEAINYGTF EYTAREGAKFPITWTAPEAINYGTF 4.0 8.0 - - 4238_1:32745698-32745698 A>C_EYTAREGAKFPITWTAPEAINYGTF 0.0 2:151343801-151343801 G>T 1.0 3903 MELANOMA - - - - RND3 NM_005168,p.A44D|ENST00000263895,p.A44D|ENST00000439275,p.A44D|NM_001254738,p.A44D|uc002txg.3,p.A44D|ENST00000454202,p.A44D|uc010zbv.2,p.A44D|ENST00000375734,p.A44D|uc002txe.3,p.A44D retained_intron, protein_coding, processed_transcript uc010zbv.2 nonsynonymous SNV exon2 c.C131A p.A44D SQCGKTALLHVFAKDCFPENYVPTV SQCGKTALLHVFDKDCFPENYVPTV 10.0 2.0 - - 3903_2:151343801-151343801 G>T_SQCGKTALLHVFDKDCFPENYVPTV 0.0 12:112481593-112481593 G>C 1.0 4287 COLORECTAL - - - - NAA25 ENST00000261745,p.L696V|uc009zwa.2,p.L696V|uc001ttm.3,p.L696V|NM_024953,p.L696V|uc009zvz.2,p.L668V retained_intron, protein_coding, nonsense_mediated_decay uc009zwa.2 nonsynonymous SNV exon18 c.C2086G p.L696V TLWLRIRSLTLRLISGLPSLNHPVE TLWLRIRSLTLRVISGLPSLNHPVE 8.0 2.0 - - 4287_12:112481593-112481593 G>C_TLWLRIRSLTLRVISGLPSLNHPVE 0.0 5:140057599-140057599 T>A 1.0 4259 COLORECTAL - - - - HARS ENST00000431330,p.D61V|uc011czp.3,p.D61V|NM_001289093,p.D61V retained_intron, protein_coding, nonsense_mediated_decay uc011czp.3 nonsynonymous SNV exon3 c.A182T p.D61V ESKQKFVLKTPKDFDIAGNFDPMIP ESKQKFVLKTPKVFDIAGNFDPMIP 10.0 6.0 - - 4259_5:140057599-140057599 T>A_ESKQKFVLKTPKVFDIAGNFDPMIP 0.0 2:190557080-190557080 T>G 0.0 4189 MELANOMA - - - - ANKAR ENST00000520309,p.V380G|ENST00000431575,p.V309G|ENST00000438402,p.V380G|ENST00000441800,p.V144G|uc002uqv.1,p.V380G|uc002uqw.2,p.V380G|ENST00000313581,p.V380G|ENST00000433782,p.V309G|ENST00000281412,p.V144G|NM_144708,p.V380G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002uqw.2 nonsynonymous SNV exon4 c.T1139G p.V380G QNFHYKENQYFHVHGGIEFDISTPS QNFHYKENQYFHGHGGIEFDISTPS 4.0 4.0 - - 4189_2:190557080-190557080 T>G_QNFHYKENQYFHGHGGIEFDISTPS 0.0 5:137528272-137528272 G>A 1.0 2591 MELANOMA - - - - CDC23 uc003lcl.3,p.R363W|NM_004661,p.R363W|ENST00000394886,p.R363W retained_intron, protein_coding, nonsense_mediated_decay uc003lcl.3 nonsynonymous SNV exon10 c.C1087T p.R363W ALYFQRALKLNPRYLGAWTLMGHEY ALYFQRALKLNPWYLGAWTLMGHEY 6.0 10.0 - - 2591_5:137528272-137528272 G>A_ALYFQRALKLNPWYLGAWTLMGHEY 0.0 11:50003895-50003895 G>T 0.0 4196 COLORECTAL - - - - OR4C12 NM_001005270,p.T48N|ENST00000335238,p.T48N|uc010ria.2,p.T48N protein_coding uc010ria.2 nonsynonymous SNV exon1 c.C143A p.T48N TLSGNLLIVVTITTSQALSSPMYFF TLSGNLLIVVTINTSQALSSPMYFF 3.0 9.0 - - 4196_11:50003895-50003895 G>T_TLSGNLLIVVTINTSQALSSPMYFF 0.0 7:11452339-11452339 T>C 0.0 4238 COLORECTAL - - - - THSD7A uc021zzo.1,p.E1209G|ENST00000423059,p.E1209G|NM_015204,p.E1209G retained_intron, protein_coding, processed_transcript uc021zzo.1 nonsynonymous SNV exon18 c.A3626G p.E1209G PADEGRSCPNAVEKEPCNLNKNCYH PADEGRSCPNAVGKEPCNLNKNCYH 2.0 7.0 - - 4238_7:11452339-11452339 T>C_PADEGRSCPNAVGKEPCNLNKNCYH 0.0 19:17337816-17337820 CGCCC>- 0.0 4316 COLORECTAL - - - - OCEL1 ENST00000215061,p.A87fs|ENST00000601529,p.A87fs|uc002nfp.3,p.A87fs|ENST00000597836,p.A31fs|NM_024578,p.A87fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002nfp.3 frameshift deletion exon3 c.260_264del p.A87fs HPPGPGPPLQGLAPRGLKTSAPRPP HPPGPGPPLQGLARPQNQRPPPSVPAPAGTPQGKDQEDCV 4.0 5.0 - - 4316_19:17337816-17337820 CGCCC>-_HPPGPGPPLQGLARPQNQRPPPSVPAPAGTPQGKDQEDCV 0.0 X:9622268-9622268 C>G 0.0 4246 COLORECTAL - - - - TBL1X ENST00000217964,p.H39Q|NM_005647,p.H39Q|NM_001139466,p.H39Q|uc010ndq.3,p.H39Q|uc004csr.3,p.H39Q|ENST00000452824,p.H39Q|ENST00000441088,p.H39Q|ENST00000407597,p.H39Q protein_coding, processed_transcript uc010ndq.3 nonsynonymous SNV exon5 c.C117G p.H39Q HFQRLRGREGGSHFINTSSPRGEAK HFQRLRGREGGSQFINTSSPRGEAK 5.0 7.0 - - 4246_X:9622268-9622268 C>G_HFQRLRGREGGSQFINTSSPRGEAK 0.0 6:102069900-102069900 T>G 1.0 3716 MELANOMA - - - - GRIK2 ENST00000369134,p.I15M|uc003pqn.3,p.I64M|NM_021956,p.I64M|ENST00000318991,p.I64M|uc010kcw.3,p.I64M|NM_175768,p.I64M|ENST00000369138,p.I64M|uc003pqo.4,p.I64M|ENST00000369137,p.I64M|ENST00000358361,p.I64M|NM_001166247,p.I64M|ENST00000421544,p.I64M|uc021zdj.1,p.I64M|ENST00000413795,p.I64M|uc003pqp.4,p.I64M|uc021zdk.1,p.I64M retained_intron, protein_coding uc021zdk.1 nonsynonymous SNV exon2 c.T192G p.I64M AEELAFRFAVNTINRNRTLLPNTTL AEELAFRFAVNTMNRNRTLLPNTTL 6.0 9.0 - - 3716_6:102069900-102069900 T>G_AEELAFRFAVNTMNRNRTLLPNTTL 0.0 5:140594228-140594228 A>G 1.0 4160 COLORECTAL - - - - PCDHB13 uc003lja.1,p.Y178C|ENST00000341948,p.Y178C|NM_018933,p.Y178C protein_coding uc003lja.1 nonsynonymous SNV exon1 c.A533G p.Y178C NNIENYIISPNSYFRVLTRKRSDGR NNIENYIISPNSCFRVLTRKRSDGR 4.0 9.0 - - 4160_5:140594228-140594228 A>G_NNIENYIISPNSCFRVLTRKRSDGR 0.0 1:145361463-145361463 C>A 1.0 4252 COLORECTAL - rs77064224 - - NBPF25P ENST00000342960,p.Q3123K|uc021oul.2,p.Q3123K protein_coding, processed_transcript uc021oul.2 nonsynonymous SNV exon75 c.C9367A p.Q3123K GLAVDMDEIEKYQEVEEDQDPSCPR GLAVDMDEIEKYKEVEEDQDPSCPR 8.0 5.0 - - 4252_1:145361463-145361463 C>A_GLAVDMDEIEKYKEVEEDQDPSCPR 0.0 4:2883633-2883633 T>G 1.0 3678 MELANOMA - - - - ADD1 uc003gft.3,p.C68W|ENST00000446856,p.C68W|ENST00000355842,p.C68W|ENST00000398125,p.C68W|ENST00000511797,p.C68W|NM_001286645,p.C68W|ENST00000503455,p.C68W|NM_001119,p.C68W|uc003gfs.3,p.C68W|ENST00000513328,p.C68W|uc010ico.1,p.C68W|NM_176801,p.C68W|NM_014190,p.C68W|ENST00000264758,p.C68W|uc003gfr.3,p.C68W|ENST00000398123,p.C68W|uc003gfp.3,p.C68W|uc003gfo.3,p.C68W|NM_014189,p.C68W|uc003gfq.3,p.C68W|ENST00000398129,p.C68W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ico.1 nonsynonymous SNV exon3 c.T204G p.C68W KRVSMILQSPAFCEELESMIQEQFK KRVSMILQSPAFWEELESMIQEQFK 10.0 1.0 - - 3678_4:2883633-2883633 T>G_KRVSMILQSPAFWEELESMIQEQFK 0.0 1:115220128-115220128 C>T 0.0 4298 COLORECTAL - - - - AMPD1 uc001eff.2,p.G440D|NM_000036,p.G444D|uc001efe.2,p.G444D|ENST00000369538,p.G440D|ENST00000520113,p.G444D|ENST00000353928,p.G411D|NM_001172626,p.G440D protein_coding, nonsense_mediated_decay uc001eff.2 nonsynonymous SNV exon9 c.G1319A p.G440D NGEYFATIIKEVGADLVEAKYQHAE NGEYFATIIKEVDADLVEAKYQHAE 2.0 8.0 - - 4298_1:115220128-115220128 C>T_NGEYFATIIKEVDADLVEAKYQHAE 0.0 6:110768129-110768129 C>G 0.0 4129 NSCLC - - - - SLC22A16 ENST00000330550,p.A166P|ENST00000451557,p.A117P|ENST00000439654,p.A200P|ENST00000437378,p.A157P|NM_033125,p.A200P|ENST00000424139,p.A157P|ENST00000368919,p.A200P|uc003pue.3,p.A181P|ENST00000434949,p.A30P|uc003puf.3,p.A200P protein_coding, processed_transcript uc003puf.3 nonsynonymous SNV exon3 c.G598C p.A200P TSSSMFLFGIAAAFAVDYYTFMAAR TSSSMFLFGIAAPFAVDYYTFMAAR 2.0 10.0 - - 4129_6:110768129-110768129 C>G_TSSSMFLFGIAAPFAVDYYTFMAAR 0.0 21:41505787-41505787 C>G 0.0 3775 CERVICAL - - ID=COSM1307811;OCCURENCE=1(urinary_tract) - DSCAM NM_001271534,p.E1186Q|ENST00000400454,p.E1186Q|ENST00000404019,p.E938Q|uc031rvr.1,p.E1186Q|uc002yyq.1,p.E1186Q|NM_001389,p.E1186Q protein_coding uc031rvr.1 nonsynonymous SNV exon19 c.G3556C p.E1186Q GVRSEQIFTRTKEDVPGPPAGVKAA GVRSEQIFTRTKQDVPGPPAGVKAA 1.0 8.0 - - 3775_21:41505787-41505787 C>G_GVRSEQIFTRTKQDVPGPPAGVKAA 0.0 6:38690710-38690710 C>T 0.0 4213 COLORECTAL 0.0014 - - - DNAH8 ENST00000327475,p.P30L|NM_001206927,p.P42L|ENST00000373278,p.P42L|uc021yzh.1,p.P42L|ENST00000449981,p.P42L protein_coding uc021yzh.1 nonsynonymous SNV exon2 c.C125T p.P42L EEEAPRPPTVEAPAEDGFSPSAEDA EEEAPRPPTVEALAEDGFSPSAEDA 3.0 8.0 - - 4213_6:38690710-38690710 C>T_EEEAPRPPTVEALAEDGFSPSAEDA 0.0 2:88118106-88118106 C>T 0.0 4240 BREAST - - - - RGPD1,RGPD2 NM_001078170,p.E37K|ENST00000420840,p.E29K|NM_001024457,p.E29K|ENST00000398146,p.E37K|uc010fhc.2,p.E37K|uc021vkn.1,p.E29K protein_coding, processed_transcript uc021vkn.1 nonsynonymous SNV exon2 c.G85A p.E29K KLRGFYFAKLYYEAKEYDLAKKYVC KLRGFYFAKLYYKAKEYDLAKKYVC 5.0 8.0 - - 4240_2:88118106-88118106 C>T_KLRGFYFAKLYYKAKEYDLAKKYVC 0.0 8:2057287-2057287 T>G 0.0 4335 COLORECTAL - - - - MYOM2 NM_003970,p.F1049V|uc011kwi.2,p.F474V|uc003wpx.4,p.F1049V|ENST00000523438,p.F474V|ENST00000262113,p.F1049V retained_intron, protein_coding, processed_transcript uc011kwi.2 nonsynonymous SNV exon12 c.T1420G p.F474V QAEHLSPDASYRFIINDREVSDSEI QAEHLSPDASYRVIINDREVSDSEI 5.0 3.0 - - 4335_8:2057287-2057287 T>G_QAEHLSPDASYRVIINDREVSDSEI 0.0 19:36278433-36278433 C>T 1.0 4317 COLORECTAL 0.0005 - - - ARHGAP33 uc002obt.2,p.S853L|ENST00000378944,p.S853L|NM_001172630,p.S853L retained_intron, protein_coding, processed_transcript uc002obt.2 nonsynonymous SNV exon20 c.C2558T p.S853L GSLLRSQRPMGTSRRGLRGPAQVPT GSLLRSQRPMGTLRRGLRGPAQVPT 9.0 7.0 - - 4317_19:36278433-36278433 C>T_GSLLRSQRPMGTLRRGLRGPAQVPT 0.0 19:57290811-57290811 A>G 0.0 4213 COLORECTAL - - - - ZIM2 NM_001146326,p.S226P|ENST00000391708,p.S226P|uc010ygr.1,p.S22P|ENST00000221722,p.S226P|NM_015363,p.S226P|ENST00000601070,p.S226P|uc002qnq.2,p.S226P|NM_001146327,p.S226P|ENST00000593711,p.S226P|uc010ygq.1,p.S22P|ENST00000599935,p.S226P|uc010etp.2,p.S226P|uc002qnr.2,p.S226P|uc010ygs.1,p.S226P retained_intron, protein_coding, nonsense_mediated_decay uc010ygs.1 nonsynonymous SNV exon10 c.T676C p.S226P SLGHQFSKPDIISRLEEEESYAMET SLGHQFSKPDIIPRLEEEESYAMET 3.0 4.0 - - 4213_19:57290811-57290811 A>G_SLGHQFSKPDIIPRLEEEESYAMET 0.0 2:86260846-86260846 C>T 1.0 4317 COLORECTAL - - - - POLR1A uc010ytb.2,p.V733I|ENST00000263857,p.V1367I|uc002sqs.3,p.V1367I|NM_015425,p.V1367I|ENST00000409681,p.V1367I|uc002sqt.1,p.V390I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ytb.2 nonsynonymous SNV exon15 c.G2197A p.V733I KKKNNKASAFRNVNTRRATQRDLDN KKKNNKASAFRNINTRRATQRDLDN 8.0 8.0 - - 4317_2:86260846-86260846 C>T_KKKNNKASAFRNINTRRATQRDLDN 0.0 8:145057613-145057613 A>G 1.0 4046 OVARIAN - - - - PARP10 uc003zal.4,p.F715S|ENST00000525773,p.F727S|uc003zam.2,p.F706S|ENST00000527262,p.F715S|ENST00000524918,p.F706S|uc011lku.2,p.F727S|NM_032789,p.F715S|uc003zak.4,p.F412S|ENST00000313028,p.F715S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011lku.2 nonsynonymous SNV exon7 c.T2180C p.F727S TDGKAQLVVHSAFEQDVEELDRALR TDGKAQLVVHSASEQDVEELDRALR 10.0 5.0 - - 4046_8:145057613-145057613 A>G_TDGKAQLVVHSASEQDVEELDRALR 0.0 12:18435341-18435341 T>G 0.0 4278 COLORECTAL - - - - PIK3C2G ENST00000535651,p.F109C|uc001rdt.3,p.F109C|NM_001288772,p.F109C|ENST00000266497,p.F109C|NM_004570,p.F109C|ENST00000546003,p.F109C|uc010sib.2,p.F109C|ENST00000538779,p.F109C|ENST00000433979,p.F109C protein_coding, processed_transcript, nonsense_mediated_decay uc010sib.2 nonsynonymous SNV exon1 c.T326G p.F109C SWHQVSKAPAIGFSPSVLPKPQNTN SWHQVSKAPAIGCSPSVLPKPQNTN 3.0 1.0 - - 4278_12:18435341-18435341 T>G_SWHQVSKAPAIGCSPSVLPKPQNTN 0.0 5:79855094-79855094 C>T 0.0 4258 ENDOMETRIAL - - - - ANKRD34B uc003kgw.3,p.V249I|NM_001004441,p.V249I|ENST00000338682,p.V249I|uc010jam.3,p.V249I|uc010jan.3,p.V249I|uc021yax.1,p.V249I protein_coding uc021yax.1 nonsynonymous SNV exon1 c.G745A p.V249I PKGPKLPHAPPWVKSPPLLMHQNRV PKGPKLPHAPPWIKSPPLLMHQNRV 1.0 6.0 - - 4258_5:79855094-79855094 C>T_PKGPKLPHAPPWIKSPPLLMHQNRV 0.0 12:89993046-89993046 T>C 1.0 4160 COLORECTAL - - - - ATP2B1 uc001tbf.3,p.K701E|ENST00000348959,p.K1031E retained_intron, protein_coding uc001tbf.3 nonsynonymous SNV exon12 c.A2101G p.K701E VQLISTIPTSRLKFLKEAGHGTQKE VQLISTIPTSRLEFLKEAGHGTQKE 9.0 5.0 - - 4160_12:89993046-89993046 T>C_VQLISTIPTSRLEFLKEAGHGTQKE 0.0 8:144649541-144649541 ->C 0.0 4326 BREAST - - - - MROH6 ENST00000398882,p.G676fs|NM_001100878,p.G676fs|uc010mff.3,p.G676fs retained_intron, protein_coding, processed_transcript uc010mff.3 frameshift insertion exon14 c.2027dupG p.G676fs SAQQVAMLARARGCPRGPRLLRIAP SAQQVAMLARARGLPPRAPPSPHRPAPRPAPTSLRRQPLPAPERRGPLGLLRTPPSL 5.0 10.0 - translated beyond stop codon reached end of cDNA PR 4326_8:144649541-144649541 ->C_SAQQVAMLARARGLPPRAPPSPHRPAPRPAPTSLRRQPLPAPERRGPLGLLRTPPSL 0.0 3:30691871-30691871 ->A 1.0 4281 COLORECTAL - - ID=COSM300123;OCCURENCE=1(large_intestine),1(pancreas) 1 TGFBR2 NM_001024847,p.E150fs|ENST00000359013,p.E150fs|uc003ceo.3,p.E125fs|ENST00000295754,p.E125fs|uc003cen.3,p.E150fs|NM_003242,p.E125fs protein_coding uc003ceo.3 frameshift insertion exon3 c.374dupA p.E125fs LEDAASPKCIMKEKKKPGETFFMCS LEDAASPKCIMKEKKKAW 8.0 9.0 - - 4281_3:30691871-30691871 ->A_LEDAASPKCIMKEKKKAW 0.0 6:152763328-152763328 G>A 0.0 4238 COLORECTAL 0.01 - - - SYNE1 uc003qow.3,p.A592V|ENST00000448038,p.A1304V|ENST00000367255,p.A1297V|ENST00000341594,p.A1363V|ENST00000367248,p.A1287V|NM_033071,p.A1304V|uc003qot.4,p.A1304V|ENST00000423061,p.A1304V|ENST00000413186,p.A1297V|uc010kjb.1,p.A1280V|ENST00000265368,p.A1297V|uc003qox.1,p.A813V|uc003qou.4,p.A1297V|ENST00000367253,p.A1297V|NM_182961,p.A1297V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010kjb.1 nonsynonymous SNV exon29 c.C3839T p.A1280V ISAKKRDVQQQIAQAQQGEGGLPDR ISAKKRDVQQQIVQAQQGEGGLPDR 4.0 10.0 - - 4238_6:152763328-152763328 G>A_ISAKKRDVQQQIVQAQQGEGGLPDR 0.0 3:122277227-122277227 G>A 1.0 3879 MELANOMA - - - - PARP9 ENST00000466126,p.P13S retained_intron, protein_coding ENST00000466126 nonsynonymous SNV exon3 c.C37T p.P13S MDFSMKVFAQIFPQWRKGNTEECLP MDFSMKVFAQIFSQWRKGNTEECLP 6.0 10.0 - - 3879_3:122277227-122277227 G>A_MDFSMKVFAQIFSQWRKGNTEECLP 0.0 10:86198453-86198453 T>A 1.0 4037 NSCLC - - - - CCSER2 NM_018999,p.L685H|ENST00000224756,p.L685H|uc010qmd.1,p.L685H|uc001kdh.1,p.L685H|uc010qme.1,p.L112H|ENST00000372088,p.L685H|NM_001284240,p.L685H|NM_001284243,p.L112H|ENST00000543283,p.L112H|NM_001284242,p.L112H protein_coding, processed_transcript uc010qme.1 nonsynonymous SNV exon3 c.T335A p.L112H TAVKTQLLKLKRLLHQHDGSGSLHD TAVKTQLLKLKRHLHQHDGSGSLHD 9.0 7.0 - - 4037_10:86198453-86198453 T>A_TAVKTQLLKLKRHLHQHDGSGSLHD 0.0 10:122334784-122334784 G>A 1.0 3879 MELANOMA - - - - PPAPDC1A ENST00000541332,p.R196H|uc010qtd.2,p.R196H protein_coding, processed_transcript uc010qtd.2 nonsynonymous SNV exon6 c.G587A p.R196H LPLYCAMMIALSRMCDYKHHWQVGC LPLYCAMMIALSHMCDYKHHWQVGC 5.0 5.0 - - 3879_10:122334784-122334784 G>A_LPLYCAMMIALSHMCDYKHHWQVGC 0.0 16:69170647-69170647 G>A 1.0 4134 NSCLC - - - - CIRH1A ENST00000567235,p.E70K|uc002ewr.2,p.E70K|ENST00000563299,p.E81K|NM_032830,p.E70K|ENST00000314423,p.E70K|ENST00000563094,p.E70K|ENST00000352319,p.E70K|ENST00000566227,p.E22K|ENST00000562237,p.E84K|uc002ews.4,p.E70K retained_intron, protein_coding, processed_transcript uc002ews.4 nonsynonymous SNV exon3 c.G208A p.E70K HESRATEALCWAEGQRLFSAGLNGE HESRATEALCWAKGQRLFSAGLNGE 9.0 4.0 - - 4134_16:69170647-69170647 G>A_HESRATEALCWAKGQRLFSAGLNGE 0.0 5:137610029-137610029 C>G 0.0 4298 COLORECTAL - - - - GFRA3 uc003lco.3,p.A29P|ENST00000274721,p.A29P|ENST00000378362,p.A29P|uc003lcn.3,p.A29P|NM_001496,p.A29P protein_coding uc003lco.3 nonsynonymous SNV exon1 c.G85C p.A29P LLLLLPPSPLPLAAGDPLPTESRLM LLLLLPPSPLPLPAGDPLPTESRLM 3.0 9.0 - - 4298_5:137610029-137610029 C>G_LLLLLPPSPLPLPAGDPLPTESRLM 0.0 16:68225642-68225642 G>A 1.0 3903 MELANOMA - - - - NFATC3 uc002evo.2,p.A1024T|uc010vkv.2,p.A545T|uc010vlb.2,p.A545T|uc010vkm.2,p.A545T|ENST00000346183,p.A1024T|uc010vkq.2,p.A545T|uc010vks.2,p.A545T|uc010vky.2,p.A545T|NM_173165,p.A1024T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vlb.2 nonsynonymous SNV exon9 c.G1633A p.A545T IKPEPEDREPNFATIGLQDITLDDV IKPEPEDREPNFTTIGLQDITLDDV 7.0 7.0 - - 3903_16:68225642-68225642 G>A_IKPEPEDREPNFTTIGLQDITLDDV 0.0 8:131124397-131124397 A>G 1.0 4252 COLORECTAL - - - - ASAP1 uc011liw.2,p.S775P|uc003yta.2,p.S782P|uc003ysz.2,p.S593P|NM_001247996,p.S775P|ENST00000357668,p.S782P|NM_018482,p.S782P|ENST00000518721,p.S782P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011liw.2 nonsynonymous SNV exon25 c.T2323C p.S775P FTNQIFVSTSTDSPTSPTTEAPPLP FTNQIFVSTSTDPPTSPTTEAPPLP 7.0 1.0 - - 4252_8:131124397-131124397 A>G_FTNQIFVSTSTDPPTSPTTEAPPLP 0.0 1:16103708-16103708 C>T 0.0 3713 MELANOMA - - - - FBLIM1 ENST00000332305,p.P215S|uc001axi.1,p.P215S|ENST00000400773,p.P215S|ENST00000375766,p.P312S|uc001axh.1,p.P215S|NM_001024216,p.P215S|ENST00000375771,p.P312S|uc001axd.1,p.P312S|NM_017556,p.P312S|uc001axe.1,p.P312S protein_coding, processed_transcript uc001axi.1 nonsynonymous SNV exon4 c.C643T p.P215S APVCSICENPIIPRDGKDAFKIECM APVCSICENPIISRDGKDAFKIECM 4.0 1.0 - - 3713_1:16103708-16103708 C>T_APVCSICENPIISRDGKDAFKIECM 0.0 8:68145099-68145099 ->CAA 0.0 4298 COLORECTAL - - - - ARFGEF1 NM_006421,p.A1124delinsVA|uc003xxn.2,p.A107delinsVA|ENST00000262215,p.A1124delinsVA|ENST00000520381,p.A578delinsVA|uc003xxo.2,p.A1124delinsVA|uc003xxl.1,p.A578delinsVA retained_intron, protein_coding, processed_transcript uc003xxo.2 nonframeshift insertion exon23 c.3370_3371insTTG p.A1124delinsVA SIGETSSQSVVVAVDRIFTGSTRLD SIGETSSQSVVVVAVDRIFTGSTRL 8.0 1.0 - - 4298_8:68145099-68145099 ->CAA_SIGETSSQSVVVVAVDRIFTGSTRL 0.0 1:201980333-201980334 CT>- 1.0 4278 COLORECTAL - - - 2 ELF3 uc001gxg.4,p.D23fs|ENST00000446188,p.D23fs|ENST00000367283,p.D23fs|NM_004433,p.D23fs|uc001gxh.4,p.D23fs|ENST00000367284,p.D23fs|uc001gxi.4,p.D23fs|NM_001114309,p.D23fs|ENST00000359651,p.D23fs protein_coding, processed_transcript uc001gxi.4 frameshift deletion exon2 c.69_70del p.D23fs FSNYFSAMYSSEDSTLASVPPAATF FSNYFSAMYSSEDHPGLCSPCCHLWGR 10.0 5.0 - - 4278_1:201980333-201980334 CT>-_FSNYFSAMYSSEDHPGLCSPCCHLWGR 0.0 7:154785460-154785460 G>A 1.0 3466 MELANOMA - - - - PAXIP1 ENST00000457196,p.S79F|uc022aqg.1,p.S79F|ENST00000404141,p.S79F|NM_007349,p.S79F|ENST00000397192,p.S79F|uc022aqf.1,p.S79F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc022aqg.1 nonsynonymous SNV exon3 c.C236T p.S79F DLPVVKPSWVILSVQCGTLLPVNGF DLPVVKPSWVILFVQCGTLLPVNGF 6.0 9.0 - - 3466_7:154785460-154785460 G>A_DLPVVKPSWVILFVQCGTLLPVNGF 0.0 10:43280965-43280965 C>T 1.0 3713 MELANOMA - - - - BMS1 NM_014753,p.P71L|ENST00000374518,p.P71L|uc001jaj.3,p.P71L protein_coding uc001jaj.3 nonsynonymous SNV exon3 c.C212T p.P71L RTQDLKTKKHHIPVVDRTPLEPPPI RTQDLKTKKHHILVVDRTPLEPPPI 5.0 6.0 - - 3713_10:43280965-43280965 C>T_RTQDLKTKKHHILVVDRTPLEPPPI 0.0 20:35414899-35414899 G>A 1.0 4000 MELANOMA - - - - SOGA1 NM_080627,p.P1659S|ENST00000357779,p.P1421S|uc021wcx.1,p.P1659S|ENST00000237536,p.P1659S|ENST00000456801,p.P1262S retained_intron, protein_coding, nonsense_mediated_decay uc021wcx.1 nonsynonymous SNV exon15 c.C4975T p.P1659S ESSWGGEERALPPSE ESSWGGEERALPSSE 7.0 1.0 - - 4000_20:35414899-35414899 G>A_ESSWGGEERALPSSE 0.0 14:92150223-92150223 T>G 0.0 4298 COLORECTAL - - - - CATSPERB ENST00000256343,p.E310A|uc001xzs.1,p.E310A|NM_024764,p.E310A retained_intron, protein_coding, nonsense_mediated_decay uc001xzs.1 nonsynonymous SNV exon11 c.A929C p.E310A YNERCFANREHFEVDYVTVTFERNR YNERCFANREHFAVDYVTVTFERNR 3.0 2.0 - - 4298_14:92150223-92150223 T>G_YNERCFANREHFAVDYVTVTFERNR 0.0 5:178552078-178552078 G>A 0.0 4266 COLORECTAL - - ID=COSM1244358;OCCURENCE=1(oesophagus) - ADAMTS2 uc003mjw.3,p.R952C|NM_014244,p.R952C|ENST00000251582,p.R952C retained_intron, protein_coding uc003mjw.3 nonsynonymous SNV exon19 c.C2854T p.R952C VRCIQPLHDNTTRSVHAKHCNDARP VRCIQPLHDNTTCSVHAKHCNDARP 6.0 2.0 - - 4266_5:178552078-178552078 G>A_VRCIQPLHDNTTCSVHAKHCNDARP 0.0 3:97591349-97591349 C>A 0.0 4345 COLORECTAL - - - - CRYBG3 NM_153605,p.F437L|ENST00000419587,p.F437L|uc021xbn.2,p.F437L protein_coding uc021xbn.2 nonsynonymous SNV exon4 c.C1311A p.F437L ELVEPQGPAISDFSCSKSDGSDTTE ELVEPQGPAISDLSCSKSDGSDTTE 4.0 6.0 - - 4345_3:97591349-97591349 C>A_ELVEPQGPAISDLSCSKSDGSDTTE 0.0 X:35993912-35993912 G>A 0.0 3998 MELANOMA - - - - CXorf22 uc004ddj.3,p.M865I|NM_152632,p.M865I|ENST00000297866,p.M865I protein_coding, nonsense_mediated_decay uc004ddj.3 nonsynonymous SNV exon15 c.G2595A p.M865I SNELVLRPRGFFMKTCFRGTVRLYN SNELVLRPRGFFIKTCFRGTVRLYN 1.0 10.0 - - 3998_X:35993912-35993912 G>A_SNELVLRPRGFFIKTCFRGTVRLYN 0.0 2:71205921-71205921 C>G 1.0 4284 COLORECTAL - - - - ANKRD53 ENST00000457410,p.T49S|ENST00000441349,p.T49S retained_intron, protein_coding ENST00000457410 nonsynonymous SNV exon1 c.C146G p.T49S QQANKVSLKATWTDAESKQPSPSKE QQANKVSLKATWSDAESKQPSPSKE 4.0 9.0 - - 4284_2:71205921-71205921 C>G_QQANKVSLKATWSDAESKQPSPSKE 0.0 3:71021817-71021817 C>T 1.0 4317 COLORECTAL - - ID=COSM268496;OCCURENCE=1(large_intestine) 1 FOXP1 uc003doo.3,p.R513H|uc003dom.3,p.R438H|NM_001244808,p.R513H|NM_001244815,p.R516H|uc003doi.3,p.R414H|uc003dol.3,p.R514H|ENST00000475937,p.R514H|NM_001244812,p.R438H|ENST00000498215,p.R514H|uc003dok.3,p.R440H|ENST00000491238,p.R516H|uc021xan.1,p.R514H|uc003doj.3,p.R516H|uc003dor.1,p.R291H|NM_001244816,p.R514H|NM_001244813,p.R414H|ENST00000497355,p.R410H|NM_032682,p.R514H|ENST00000493089,p.R513H|NM_001244814,p.R514H|ENST00000318789,p.R514H|uc003dop.3,p.R514H|ENST00000327590,p.R514H|ENST00000484350,p.R438H protein_coding, processed_transcript, nonsense_mediated_decay uc021xan.1 nonsynonymous SNV exon17 c.G1541A p.R514H FRRNAATWKNAVRHNLSLHKCFVRV FRRNAATWKNAVHHNLSLHKCFVRV 10.0 9.0 - - 4317_3:71021817-71021817 C>T_FRRNAATWKNAVHHNLSLHKCFVRV 0.0 10:71973243-71973243 C>T 1.0 4186 BREAST - - - - PPA1 uc001jqv.1,p.D163N|ENST00000373232,p.D163N|NM_021129,p.D163N protein_coding, processed_transcript uc001jqv.1 nonsynonymous SNV exon6 c.G487A p.D163N ETDWKVIAINVDDPDAANYNDINDV ETDWKVIAINVDNPDAANYNDINDV 10.0 2.0 - - 4186_10:71973243-71973243 C>T_ETDWKVIAINVDNPDAANYNDINDV 0.0 4:2065844-2065844 G>A 0.0 4259 COLORECTAL - - - - NAT8L NM_178557,p.R300H|ENST00000331662,p.R132H|ENST00000423729,p.R300H|uc003geq.2,p.R300H protein_coding uc003geq.2 nonsynonymous SNV exon3 c.G899A p.R300H FQVRYHRYRLQLREE FQVRYHRYRLQLHEE 5.0 10.0 - - 4259_4:2065844-2065844 G>A_FQVRYHRYRLQLHEE 0.0 17:6594177-6594177 G>A 0.0 2591 MELANOMA - - - - SLC13A5 NM_177550,p.S453F|ENST00000573648,p.S453F|uc010clq.3,p.S410F|NM_001284509,p.S436F|ENST00000572727,p.S156F|ENST00000381074,p.S410F|NM_001143838,p.S453F|NM_001284510,p.S410F|uc002gdj.3,p.S453F|ENST00000293800,p.S436F|uc010vtf.2,p.S453F|ENST00000433363,p.S453F|uc002gdk.3,p.S436F retained_intron, protein_coding, nonsense_mediated_decay uc010vtf.2 nonsynonymous SNV exon10 c.C1358T p.S453F HAVPPAAITLILSLLVAVFTECTSN HAVPPAAITLILFLLVAVFTECTSN 1.0 2.0 - - 2591_17:6594177-6594177 G>A_HAVPPAAITLILFLLVAVFTECTSN 0.0 3:46727055-46727055 T>G 1.0 4317 COLORECTAL - - - - ALS2CL ENST00000434140,p.E249A|ENST00000431015,p.E249A|ENST00000318962,p.E249A|uc003cqa.2,p.E249A|ENST00000450172,p.E249A|NM_147129,p.E249A|ENST00000415953,p.E249A|uc003cqb.2,p.E249A|NM_001190707,p.E249A retained_intron, protein_coding, nonsense_mediated_decay uc003cqb.2 nonsynonymous SNV exon7 c.A746C p.E249A QDVPVTVAPLRAERVLLFDDALVLL QDVPVTVAPLRAARVLLFDDALVLL 9.0 2.0 - - 4317_3:46727055-46727055 T>G_QDVPVTVAPLRAARVLLFDDALVLL 0.0 8:61777720-61777720 T>G 1.0 4234 NSCLC - - - - CHD7 NM_017780,p.I2741S|uc022aux.1,p.I692S|ENST00000423902,p.I2741S|ENST00000524602,p.I692S|uc003xue.3,p.I2741S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc022aux.1 nonsynonymous SNV exon5 c.T2075G p.I692S AAAAAAVASTSGINPLLVNSLFAGM AAAAAAVASTSGSNPLLVNSLFAGM 9.0 7.0 - - 4234_8:61777720-61777720 T>G_AAAAAAVASTSGSNPLLVNSLFAGM 0.0 12:32490653-32490653 G>T 1.0 4110 BILE DUCT - - - - BICD1 uc001rkw.1,p.A107S|uc001rku.3,p.A825S|ENST00000281474,p.A825S|NM_001714,p.A825S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001rkw.1 nonsynonymous SNV exon2 c.G319T p.A107S KSKIGSPKVSGEASVTVPTIDTYLL KSKIGSPKVSGESSVTVPTIDTYLL 5.0 9.0 - - 4110_12:32490653-32490653 G>T_KSKIGSPKVSGESSVTVPTIDTYLL 0.0 15:86182612-86182612 G>A 1.0 4000 MELANOMA - - ID=COSM1708503,COSM231735;OCCURENCE=2(skin) - AKAP13 uc031qtl.1,p.R30Q|NM_001270546,p.R30Q retained_intron, protein_coding, processed_transcript uc031qtl.1 nonsynonymous SNV exon2 c.G89A p.R30Q DRTVDVVLLKINRENWCTIEPCPDA DRTVDVVLLKINQENWCTIEPCPDA 10.0 7.0 - - 4000_15:86182612-86182612 G>A_DRTVDVVLLKINQENWCTIEPCPDA 0.0 22:26897906-26897906 T>C 1.0 4196 COLORECTAL - - - - TFIP11 ENST00000405938,p.K254R|ENST00000407148,p.K254R|NM_012143,p.K254R|uc003act.2,p.K254R|NM_001008697,p.K254R|ENST00000407690,p.K254R|uc003acs.2,p.K254R|ENST00000407431,p.K254R|uc003acr.2,p.K254R retained_intron, protein_coding, processed_transcript uc003act.2 nonsynonymous SNV exon8 c.A761G p.K254R TVEELKAKGRISKKLTAPQKELSQV TVEELKAKGRISRKLTAPQKELSQV 9.0 4.0 - - 4196_22:26897906-26897906 T>C_TVEELKAKGRISRKLTAPQKELSQV 0.0 17:62029216-62029216 G>- 0.0 4110 BILE DUCT - - - - SCN4A uc002jds.1,p.A807fs|ENST00000578147,p.A807fs|NM_000334,p.A807fs|ENST00000435607,p.A807fs retained_intron, protein_coding uc002jds.1 frameshift deletion exon14 c.2421delC p.A807fs NLFLALLLSSFSADSLAASDEDGEM NLFLALLLSSFSATVWQPRMRMAR 3.0 8.0 - - 4110_17:62029216-62029216 G>-_NLFLALLLSSFSATVWQPRMRMAR 0.0 2:215274981-215274981 A>T 0.0 3466 MELANOMA - - - - SPAG16 ENST00000374309,p.H519L|ENST00000331683,p.H613L|ENST00000451561,p.H237L|uc010zjk.3,p.H519L|uc002ver.4,p.H559L|uc002veq.4,p.H613L|NM_024532,p.H613L protein_coding, processed_transcript, nonsense_mediated_decay uc010zjk.3 nonsynonymous SNV exon15 c.A1556T p.H519L GHENEAHTVVFSHDGEILFSGGSDG GHENEAHTVVFSLDGEILFSGGSDG 5.0 2.0 - - 3466_2:215274981-215274981 A>T_GHENEAHTVVFSLDGEILFSGGSDG 0.0 17:7942511-7942511 C>A 0.0 4246 COLORECTAL - - - - ALOX15B uc002gjw.3,p.A13D|uc002gjv.3,p.A13D|ENST00000572022,p.A13D|NM_001039130,p.A13D|ENST00000380183,p.A13D|NM_001141,p.A13D|ENST00000573359,p.A13D|uc002gju.3,p.A13D|uc010vun.2,p.A13D|NM_001039131,p.A13D|ENST00000380173,p.A13D retained_intron, protein_coding uc010vun.2 nonsynonymous SNV exon1 c.C38A p.A13D MAEFRVRVSTGEAFGAGTWDKVSVS MAEFRVRVSTGEDFGAGTWDKVSVS 4.0 7.0 - - 4246_17:7942511-7942511 C>A_MAEFRVRVSTGEDFGAGTWDKVSVS 0.0 3:50102527-50102527 C>T 1.0 3903 MELANOMA - - - - RBM6 uc003cye.3,p.P362S|ENST00000443081,p.P752S|ENST00000266022,p.P884S|uc011bdi.2,p.P226S|NM_001167582,p.P362S|uc003cyd.3,p.P362S|ENST00000442092,p.P362S|ENST00000422955,p.P362S|NM_005777,p.P884S|ENST00000539992,p.P226S|uc003cyc.3,p.P884S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bdi.2 nonsynonymous SNV exon11 c.C676T p.P226S APAEDVFKKPLPPTVKKEESPPPPK APAEDVFKKPLPSTVKKEESPPPPK 9.0 3.0 - - 3903_3:50102527-50102527 C>T_APAEDVFKKPLPSTVKKEESPPPPK 0.0 1:10207148-10207148 A>T 1.0 4320 COLORECTAL - - - - UBE4B uc021ogc.1,p.D915V|NM_006048,p.D735V|NM_001105562,p.D864V|ENST00000377157,p.D619V|ENST00000253251,p.D735V|uc001aqr.4,p.D735V|uc010oaj.2,p.D319V|ENST00000343090,p.D864V|uc001aqs.4,p.D864V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021ogc.1 nonsynonymous SNV exon20 c.A2744T p.D915V QLLLRILDPAYPDITLPLNSDVPKV QLLLRILDPAYPVITLPLNSDVPKV 7.0 7.0 - - 4320_1:10207148-10207148 A>T_QLLLRILDPAYPVITLPLNSDVPKV 0.0 1:235505714-235505714 T>G 1.0 4252 COLORECTAL - - - - GGPS1 uc031psu.1,p.L177R|ENST00000488594,p.L177R|NM_001037277,p.L177R|ENST00000497327,p.L177R|ENST00000358966,p.L177R|ENST00000282841,p.L177R|uc001hww.3,p.L177R|ENST00000476121,p.L177R|uc001hwv.3,p.L177R|ENST00000471812,p.L177R|ENST00000391855,p.L123R|uc001hwx.3,p.L123R protein_coding, processed_transcript uc031psu.1 nonsynonymous SNV exon4 c.T530G p.L177R LFSDYKEDLKPLLNTLGLFFQIRDD LFSDYKEDLKPLRNTLGLFFQIRDD 9.0 3.0 - - 4252_1:235505714-235505714 T>G_LFSDYKEDLKPLRNTLGLFFQIRDD 0.0 17:33875518-33875518 G>A 0.0 3998 MELANOMA 0.0005 - - - SLFN14 uc010ctu.1,p.R827C|NM_001129820,p.R827C|ENST00000415846,p.R827C protein_coding uc010ctu.1 nonsynonymous SNV exon4 c.C2479T p.R827C IAILCRRGEDRGRYRLALLKAMELI IAILCRRGEDRGCYRLALLKAMELI 1.0 8.0 - - 3998_17:33875518-33875518 G>A_IAILCRRGEDRGCYRLALLKAMELI 0.0 13:61987147-61987147 T>G 0.0 4287 COLORECTAL - - - - PCDH20 NM_022843,p.K362T|ENST00000409186,p.K362T|uc010thj.2,p.K362T|ENST00000409204,p.K362T|uc001vid.4,p.K362T protein_coding, processed_transcript uc010thj.2 nonsynonymous SNV exon5 c.A1085C p.K362T GTNAQITYSYSQKVPQASKDLFHLD GTNAQITYSYSQTVPQASKDLFHLD 3.0 8.0 - - 4287_13:61987147-61987147 T>G_GTNAQITYSYSQTVPQASKDLFHLD 0.0 3:178936091-178936091 G>A 1.0 4320 COLORECTAL - - ID=COSM763,COSM125370;OCCURENCE=4(salivary_gland),38(endometrium),4(soft_tissue),28(ovary),1(pituitary),4(kidney),3(pancreas),3(liver),126(urinary_tract),1(biliary_tract),373(large_intestine),1(prostate),365(breast),16(skin),1(small_intestine),41(upper_aerodigestive_tract),8(oesophagus),18(stomach),17(central_nervous_system),21(cervix),7(gastrointestinal_tract_(site_indeterminate)),4(penis),44(lung),7(thyroid) 1 PIK3CA ENST00000263967,p.E545K|uc003fjk.3,p.E545K|NM_006218,p.E545K retained_intron, protein_coding uc003fjk.3 nonsynonymous SNV exon10 c.G1633A p.E545K AISTRDPLSEITEQEKDFLWSHRHY AISTRDPLSEITKQEKDFLWSHRHY 7.0 8.0 - - 4320_3:178936091-178936091 G>A_AISTRDPLSEITKQEKDFLWSHRHY 0.0 4:169433274-169433274 C>T 0.0 3713 MELANOMA - - - - PALLD NM_016081,p.P207S|ENST00000333488,p.P84S|ENST00000261509,p.P207S|NM_001166108,p.P207S|ENST00000505667,p.P207S|uc003iru.3,p.P207S|uc011cjx.2,p.P207S|ENST00000508898,p.P186S retained_intron, protein_coding uc011cjx.2 nonsynonymous SNV exon2 c.C619T p.P207S GESSSPDSGYLSPKNQPSALLSASA GESSSPDSGYLSSKNQPSALLSASA 7.0 5.0 - - 3713_4:169433274-169433274 C>T_GESSSPDSGYLSSKNQPSALLSASA 0.0 16:71509509-71509509 G>A 1.0 3716 MELANOMA - - - - ZNF19 uc002fal.1,p.S302F|uc002fak.1,p.S302F|ENST00000565637,p.S272F|ENST00000288177,p.S314F|NM_006961,p.S314F|ENST00000564230,p.S314F|uc010cgc.1,p.S314F|uc002fam.1,p.S314F|ENST00000565100,p.S244F retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010cgc.1 nonsynonymous SNV exon6 c.C941T p.S314F ECNECGKSFGRTSHLSQHQRIHTGE ECNECGKSFGRTFHLSQHQRIHTGE 3.0 7.0 - - 3716_16:71509509-71509509 G>A_ECNECGKSFGRTFHLSQHQRIHTGE 0.0 10:102684073-102684073 C>G 0.0 4235 COLORECTAL - - - - FAM178A uc001krt.4,p.P439A|ENST00000370271,p.P439A|NM_018121,p.P439A|uc001kru.1,p.P374A|ENST00000370269,p.P439A|NM_001136123,p.P439A|ENST00000238961,p.P439A|uc001krr.1,p.P439A|uc001krs.3,p.P439A protein_coding, processed_transcript uc001kru.1 nonsynonymous SNV exon3 c.C1120G p.P374A QVAGTKETKMQKPHLPLSQEKSAIK QVAGTKETKMQKAHLPLSQEKSAIK 6.0 5.0 - - 4235_10:102684073-102684073 C>G_QVAGTKETKMQKAHLPLSQEKSAIK 0.0 14:45478252-45478252 C>T 1.0 3713 MELANOMA - - - - FAM179B ENST00000361577,p.S1014F|NM_015091,p.S1014F|uc001wvw.3,p.S1014F|ENST00000361462,p.S1014F|uc001wvv.3,p.S1014F retained_intron, protein_coding, nonsense_mediated_decay uc001wvw.3 nonsynonymous SNV exon6 c.C3041T p.S1014F KLDLTMDSPSLSSSPNINSYSESGV KLDLTMDSPSLSFSPNINSYSESGV 4.0 9.0 - - 3713_14:45478252-45478252 C>T_KLDLTMDSPSLSFSPNINSYSESGV 0.0 19:39664385-39664385 C>T 1.0 3466 MELANOMA - - - - PAK4 ENST00000602004,p.P163L|ENST00000435673,p.P278L|uc002oko.1,p.P125L|NM_001014834,p.P125L|ENST00000599386,p.P125L|uc002okm.1,p.P125L|uc002okp.1,p.P188L|uc002okn.1,p.P278L|uc002okj.1,p.P278L|uc002okl.1,p.P278L|NM_005884,p.P278L|ENST00000360442,p.P278L|NM_001014835,p.P125L|NM_001014832,p.P278L|ENST00000599470,p.P125L|ENST00000321944,p.P188L|NM_001014831,p.P278L|ENST00000358301,p.P278L|ENST00000593690,p.P278L retained_intron, protein_coding, processed_transcript uc002okp.1 nonsynonymous SNV exon5 c.C563T p.P188L ASEPQLAPPACTPAAPAVPGPPGPR ASEPQLAPPACTLAAPAVPGPPGPR 6.0 1.0 - - 3466_19:39664385-39664385 C>T_ASEPQLAPPACTLAAPAVPGPPGPR 0.0 7:72922754-72922754 A>C 1.0 4240 BREAST - - - - BAZ1B ENST00000404251,p.M91R|ENST00000339594,p.M91R|NM_032408,p.M91R|uc003tyc.3,p.M91R retained_intron, protein_coding uc003tyc.3 nonsynonymous SNV exon3 c.T272G p.M91R EFPAWYEKLVLEMVHHNTASLEKLV EFPAWYEKLVLERVHHNTASLEKLV 10.0 7.0 - - 4240_7:72922754-72922754 A>C_EFPAWYEKLVLERVHHNTASLEKLV 0.0 22:36922149-36922149 G>A 1.0 3919 MELANOMA - - - - EIF3D ENST00000402116,p.P7L|ENST00000432675,p.P7L|ENST00000541106,p.P7L|NM_003753,p.P7L|uc003apr.3,p.P7L|ENST00000455547,p.P7L|uc011amt.2,p.P7L|ENST00000216190,p.P7L|ENST00000457241,p.P7L|ENST00000405442,p.P7L retained_intron, protein_coding, processed_transcript uc011amt.2 nonsynonymous SNV exon2 c.C20T p.P7L MAKFMTPVIQDNPSGWGPC MAKFMTLVIQDNPSGWGPC 10.0 6.0 - - 3919_22:36922149-36922149 G>A_MAKFMTLVIQDNPSGWGPC 0.0 9:131581324-131581324 G>C 1.0 4252 COLORECTAL - - - - ENDOG ENST00000372642,p.V121L|uc004bwc.3,p.V121L|NM_004435,p.V121L protein_coding uc004bwc.3 nonsynonymous SNV exon1 c.G361C p.V121L DRRECDFREDDSVHAYHRATNADYR DRRECDFREDDSLHAYHRATNADYR 9.0 10.0 CD8 - 4252_9:131581324-131581324 G>C_DRRECDFREDDSLHAYHRATNADYR 2.0 19:57646776-57646776 G>A 0.0 4081 COLORECTAL - - - - ZIM3 NM_052882,p.T310M|uc002qnz.1,p.T310M|ENST00000269834,p.T310M protein_coding uc002qnz.1 nonsynonymous SNV exon5 c.C929T p.T310M KKVHTGQKPFQCTDCGKAFIYKSDL KKVHTGQKPFQCMDCGKAFIYKSDL 1.0 6.0 - - 4081_19:57646776-57646776 G>A_KKVHTGQKPFQCMDCGKAFIYKSDL 0.0 9:139366491-139366491 G>T 1.0 2591 MELANOMA - - - - SEC16A uc004chv.4,p.R604S|uc004chx.3,p.R1214S|NM_014866,p.R1214S|ENST00000371706,p.R1036S|uc004chw.3,p.R1214S|ENST00000290037,p.R1036S|ENST00000313050,p.R1214S|ENST00000431893,p.R1036S|NM_001276418,p.R1214S|uc010nbn.3,p.R1214S protein_coding, processed_transcript uc010nbn.3 nonsynonymous SNV exon3 c.C3640A p.R1214S YDGAASAYAQNYRYPEPERPSSRAS YDGAASAYAQNYSYPEPERPSSRAS 8.0 7.0 - - 2591_9:139366491-139366491 G>T_YDGAASAYAQNYSYPEPERPSSRAS 0.0 7:116772014-116772014 A>C 1.0 4287 COLORECTAL - - - - ST7 ENST00000446490,p.E214A|uc003vio.3,p.E214A|ENST00000393443,p.E164A|ENST00000393446,p.E214A|ENST00000422922,p.E168A|ENST00000393444,p.E171A|uc011knl.2,p.E214A|uc003vir.3,p.E162A|ENST00000465133,p.E171A|ENST00000393451,p.E214A|NM_018412,p.E214A|uc003vix.1,p.E50A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011knl.2 nonsynonymous SNV exon6 c.A641C p.E214A RISAAHEALEINECATAYILLAEEE RISAAHEALEINACATAYILLAEEE 8.0 7.0 - - 4287_7:116772014-116772014 A>C_RISAAHEALEINACATAYILLAEEE 0.0 8:145051686-145051686 G>A 1.0 3784 MELANOMA - - - - PARP10 uc003zal.4,p.P1015L|ENST00000313028,p.P1015L|ENST00000525773,p.P1027L|ENST00000524918,p.P1006L|NM_032789,p.P1015L|uc011lku.2,p.P1027L|uc003zak.4,p.P712L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011lku.2 nonsynonymous SNV exon10 c.C3080T p.P1027L TCEHVPRASPDDPSGLPGRSPDT TCEHVPRASPDDLSGLPGRSPDT 9.0 7.0 - - 3784_8:145051686-145051686 G>A_TCEHVPRASPDDLSGLPGRSPDT 0.0 1:65874453-65874453 C>A 0.0 3919 MELANOMA - - - - DNAJC6 ENST00000263441,p.P804H|NM_014787,p.P817H|NM_001256865,p.P804H|NM_001256864,p.P874H|ENST00000371069,p.P874H|ENST00000395325,p.P817H|uc001dcd.2,p.P817H|uc010opc.2,p.P804H|uc001dce.2,p.P874H protein_coding, processed_transcript uc010opc.2 nonsynonymous SNV exon18 c.C2411A p.P804H EMRKEEMAKEMDPEKLKILEWIEGK EMRKEEMAKEMDHEKLKILEWIEGK 3.0 3.0 - - 3919_1:65874453-65874453 C>A_EMRKEEMAKEMDHEKLKILEWIEGK 0.0 18:59821839-59821839 C>G 0.0 4240 BREAST - - - - PIGN NM_176787,p.R163T|ENST00000357637,p.R163T|ENST00000585923,p.R163T|ENST00000589098,p.R68T|ENST00000588748,p.R86T|ENST00000591238,p.R86T|ENST00000400334,p.R163T|uc021ulb.1,p.R163T|ENST00000590765,p.R127T|NM_012327,p.R163T|ENST00000589720,p.R163T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021ulb.1 nonsynonymous SNV exon4 c.G488C p.R163T GDHVYTYSYDAKREDFGAQDATKLD GDHVYTYSYDAKTEDFGAQDATKLD 7.0 10.0 - - 4240_18:59821839-59821839 C>G_GDHVYTYSYDAKTEDFGAQDATKLD 0.0 X:48923315-48923315 G>A 1.0 4196 COLORECTAL - - - - CCDC120 uc004dmf.4,p.E299K|NM_033626,p.E299K|NM_001163321,p.E334K|uc010nik.4,p.E299K|NM_001271836,p.E299K|ENST00000603986,p.E334K|ENST00000376396,p.E299K|ENST00000496529,p.E299K|NM_001271835,p.E299K|ENST00000422185,p.E299K|uc011mms.3,p.E287K|NM_001163323,p.E287K|NM_001163322,p.E287K|uc011mmq.3,p.E287K|uc010nil.4,p.E299K|ENST00000536628,p.E287K|ENST00000597275,p.E299K protein_coding, processed_transcript uc011mms.3 nonsynonymous SNV exon9 c.G859A p.E287K PTRSLPRSASSFEGRSVPATPVLTR PTRSLPRSASSFKGRSVPATPVLTR 7.0 10.0 - - 4196_X:48923315-48923315 G>A_PTRSLPRSASSFKGRSVPATPVLTR 0.0 7:99771488-99771488 C>T 0.0 4110 BILE DUCT - - - - GPC2 uc003utv.3,p.G288R|ENST00000292377,p.G288R|NM_152742,p.G288R retained_intron, protein_coding, processed_transcript uc003utv.3 nonsynonymous SNV exon5 c.G862A p.G288R CLNVVRGCLSSRGLEPDWGNYLDGL CLNVVRGCLSSRRLEPDWGNYLDGL 3.0 5.0 - - 4110_7:99771488-99771488 C>T_CLNVVRGCLSSRRLEPDWGNYLDGL 0.0 2:113984748-113984748 G>A 0.0 4281 COLORECTAL - - - 1 PAX8 ENST00000263334,p.S365L|uc002tjm.3,p.S288L|ENST00000263335,p.S288L|NM_013952,p.S365L|NM_013953,p.S288L|uc010yxu.2,p.S365L|ENST00000348715,p.S365L retained_intron, protein_coding, nonsense_mediated_decay uc010yxu.2 nonsynonymous SNV exon10 c.C1094T p.S365L PPADRAAMPPLPSQAWWQEVNTLAM PPADRAAMPPLPLQAWWQEVNTLAM 4.0 9.0 - - 4281_2:113984748-113984748 G>A_PPADRAAMPPLPLQAWWQEVNTLAM 0.0 6:46856086-46856086 A>C 0.0 4335 COLORECTAL - - - - GPR116 uc003oyr.2,p.I105R|uc003oyp.3,p.I105R|ENST00000283296,p.I105R|ENST00000456426,p.I105R|uc003oyq.3,p.I105R|NM_015234,p.I105R|NM_001098518,p.I105R|ENST00000362015,p.I105R|uc003oyo.3,p.I105R|ENST00000265417,p.I105R protein_coding, processed_transcript uc003oyr.2 nonsynonymous SNV exon4 c.T314G p.I105R GNNTDQITDILSINVTTVCRPAGNE GNNTDQITDILSRNVTTVCRPAGNE 8.0 8.0 - - 4335_6:46856086-46856086 A>C_GNNTDQITDILSRNVTTVCRPAGNE 0.0 2:29375616-29375616 C>T 1.0 3466 MELANOMA - - - - CLIP4 uc002rmu.3,p.P363S|ENST00000401617,p.P256S|uc010ymn.1,p.P345S|ENST00000404424,p.P363S|ENST00000401605,p.P363S|NM_001287528,p.P363S|NM_001287527,p.P363S|ENST00000415891,p.P363S|uc010ezm.1,p.P363S|ENST00000320081,p.P363S|NM_024692,p.P363S|uc002rmv.3,p.P363S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ymn.1 nonsynonymous SNV exon8 c.C1033T p.P345S KAKGRRKNITHTPSTKAAVPLIRSQ KAKGRRKNITHTSSTKAAVPLIRSQ 8.0 3.0 - - 3466_2:29375616-29375616 C>T_KAKGRRKNITHTSSTKAAVPLIRSQ 0.0 13:110830206-110830206 C>G 1.0 4234 NSCLC - - - - COL4A1 ENST00000375820,p.G900A|NM_001845,p.G900A|uc001vqw.4,p.G900A protein_coding, processed_transcript uc001vqw.4 nonsynonymous SNV exon33 c.G2699C p.G900A GQPGSPGPVGAPGLPGEKGDHGFPG GQPGSPGPVGAPALPGEKGDHGFPG 9.0 5.0 - - 4234_13:110830206-110830206 C>G_GQPGSPGPVGAPALPGEKGDHGFPG 0.0 20:62608740-62608740 G>C 0.0 3775 CERVICAL - - - - SAMD10 ENST00000450107,p.F76L protein_coding, processed_transcript ENST00000450107 nonsynonymous SNV exon3 c.C228G p.F76L PASPDSATAHFSFCRTLLEHTVSAE PASPDSATAHFSLCRTLLEHTVSAE 5.0 4.0 - - 3775_20:62608740-62608740 G>C_PASPDSATAHFSLCRTLLEHTVSAE 0.0 2:141526817-141526817 C>T 0.0 3795 MELANOMA - - - 1 LRP1B NM_018557,p.G1908E|ENST00000389484,p.G1908E|uc002tvj.1,p.G1908E protein_coding, processed_transcript uc002tvj.1 nonsynonymous SNV exon35 c.G5723A p.G1908E PSDKMDALMPISGTSFAVGIDFHAE PSDKMDALMPISETSFAVGIDFHAE 1.0 6.0 - - 3795_2:141526817-141526817 C>T_PSDKMDALMPISETSFAVGIDFHAE 0.0 19:41132916-41132916 C>T 1.0 3784 MELANOMA - - - - LTBP4 ENST00000308370,p.P1407L|ENST00000204005,p.P1370L|ENST00000396819,p.P1340L|uc002ool.1,p.P420L|uc002ooj.1,p.P281L|uc002ook.1,p.P542L|uc010xvp.1,p.P168L|ENST00000545697,p.P775L retained_intron, protein_coding, processed_transcript uc010xvp.1 nonsynonymous SNV exon6 c.C503T p.P168L DDFEALCNVLRPPAYSPPRPGGFGL DDFEALCNVLRPLAYSPPRPGGFGL 9.0 2.0 - - 3784_19:41132916-41132916 C>T_DDFEALCNVLRPLAYSPPRPGGFGL 0.0 1:154247682-154247682 G>A 1.0 4189 MELANOMA - - - - HAX1 ENST00000447768,p.S182N retained_intron, protein_coding, nonsense_mediated_decay ENST00000447768 nonsynonymous SNV exon5 c.G545A p.S182N FPRRVLARFYSPSPNPISRASL FPRRVLARFYSPNPNPISRASL 10.0 9.0 - - 4189_1:154247682-154247682 G>A_FPRRVLARFYSPNPNPISRASL 0.0 4:167983649-167983649 C>T 0.0 4245 COLORECTAL 0.0005 - - - SPOCK3 uc003irj.1,p.D77N|uc011cjq.1,p.D89N|ENST00000502741,p.D80N|ENST00000504953,p.D77N|ENST00000502330,p.D80N|ENST00000421836,p.D29N|NM_001204352,p.D29N|uc011cjp.2,p.D77N|ENST00000515143,p.D41N|uc021xuf.1,p.D80N|ENST00000506886,p.D80N|ENST00000507086,p.D80N|ENST00000511531,p.D80N|ENST00000357154,p.D80N|ENST00000511269,p.D77N|uc011cjs.1,p.D29N|NM_001204356,p.D77N|ENST00000509854,p.D77N|ENST00000512042,p.D80N|ENST00000512648,p.D77N|NM_001204358,p.D77N|ENST00000357545,p.D77N|NM_016950,p.D80N|NM_001040159,p.D77N|ENST00000510741,p.D77N|uc003irk.4,p.D77N|ENST00000506697,p.D80N|uc003iri.1,p.D80N protein_coding, processed_transcript, nonsense_mediated_decay uc021xuf.1 nonsynonymous SNV exon3 c.G238A p.D80N DYFRTWSPGKPFDQALDPAKDPCLK DYFRTWSPGKPFNQALDPAKDPCLK 4.0 8.0 - - 4245_4:167983649-167983649 C>T_DYFRTWSPGKPFNQALDPAKDPCLK 0.0 20:5283369-5283369 C>T 0.0 4278 COLORECTAL - - - - PROKR2 ENST00000546004,p.V158I|uc010zqy.2,p.V158I|uc010zqx.2,p.V158I|uc010zqw.2,p.V158I|ENST00000217270,p.V158I|NM_144773,p.V158I protein_coding uc010zqy.2 nonsynonymous SNV exon3 c.G472A p.V158I LLAIAIDRYLAIVHPLKPRMNYQTA LLAIAIDRYLAIIHPLKPRMNYQTA 4.0 1.0 - - 4278_20:5283369-5283369 C>T_LLAIAIDRYLAIIHPLKPRMNYQTA 0.0 22:42564721-42564721 G>A 1.0 4317 COLORECTAL - - - - TCF20 uc003bcj.1,p.P1941S|NM_005650,p.P1941S|ENST00000359486,p.P1941S protein_coding uc003bcj.1 nonsynonymous SNV exon4 c.C5821T p.P1941S CPKHKPPLPCPLPPLQNKTAKGSLS CPKHKPPLPCPLSPLQNKTAKGSLS 9.0 9.0 - - 4317_22:42564721-42564721 G>A_CPKHKPPLPCPLSPLQNKTAKGSLS 0.0 9:131743600-131743600 C>T 0.0 4129 NSCLC - - - - NUP188 uc004bws.2,p.H483Y|ENST00000372577,p.H483Y|NM_015354,p.H483Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004bws.2 nonsynonymous SNV exon15 c.C1447T p.H483Y MSFYNELYKHKPHDVISHEDGTLWR MSFYNELYKHKPYDVISHEDGTLWR 7.0 10.0 - - 4129_9:131743600-131743600 C>T_MSFYNELYKHKPYDVISHEDGTLWR 0.0 2:33783310-33783310 G>T 1.0 4259 COLORECTAL - - - - RASGRP3 uc002roy.3,p.D537Y|ENST00000403687,p.D538Y|NM_001139488,p.D538Y|ENST00000407811,p.D537Y|ENST00000402538,p.D538Y|uc010ync.2,p.D538Y|NM_170672,p.D538Y|NM_015376,p.D537Y|uc002rox.3,p.D538Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ync.2 nonsynonymous SNV exon16 c.G1612T p.D538Y KDCGANCHKQCKDLLVLACRRFARA KDCGANCHKQCKYLLVLACRRFARA 6.0 10.0 - - 4259_2:33783310-33783310 G>T_KDCGANCHKQCKYLLVLACRRFARA 0.0 12:123200483-123200483 C>T 0.0 4326 BREAST - - - - HCAR3 ENST00000528880,p.V268M|NM_006018,p.V268M|uc001ucy.4,p.V268M protein_coding uc001ucy.4 nonsynonymous SNV exon1 c.G802A p.V268M WLLHTSGTQNCEVYRSVDLAFFITL WLLHTSGTQNCEMYRSVDLAFFITL 4.0 4.0 - - 4326_12:123200483-123200483 C>T_WLLHTSGTQNCEMYRSVDLAFFITL 0.0 9:139734176-139734176 G>A 1.0 4081 COLORECTAL 0.0032 - - - RABL6 ENST00000371675,p.D482N|ENST00000311502,p.D597N|NM_024718,p.D597N|NM_001173988,p.D598N|ENST00000435930,p.D391N|uc004cji.1,p.D597N|uc004cjj.1,p.D598N|uc010nbs.1,p.D482N|uc004cjn.1,p.D391N|ENST00000371663,p.D598N protein_coding, processed_transcript, nonsense_mediated_decay uc010nbs.1 nonsynonymous SNV exon13 c.G1444A p.D482N RADDFPVRDDPSDVTDEDEGPAEPP RADDFPVRDDPSNVTDEDEGPAEPP 10.0 5.0 - - 4081_9:139734176-139734176 G>A_RADDFPVRDDPSNVTDEDEGPAEPP 0.0 6:43172719-43172719 C>T 1.0 3713 MELANOMA - - - - CUL9 uc003ouk.3,p.R1500C|uc003oul.3,p.R1500C|uc010jyk.3,p.R652C|ENST00000354495,p.R1390C|NM_015089,p.R1500C|ENST00000372647,p.R1500C|ENST00000252050,p.R1500C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010jyk.3 nonsynonymous SNV exon22 c.C1954T p.R652C LAAAWRAPDFVPRYCKLYEHLQRAG LAAAWRAPDFVPCYCKLYEHLQRAG 8.0 2.0 - - 3713_6:43172719-43172719 C>T_LAAAWRAPDFVPCYCKLYEHLQRAG 0.0 6:30863232-30863232 G>A 1.0 4240 BREAST - - ID=COSM252467,COSM252466;OCCURENCE=1(large_intestine),1(ovary) - DDR1 NM_013994,p.R522H|ENST00000376575,p.R522H|NM_001297654,p.R522H|ENST00000513240,p.R522H|ENST00000452441,p.R522H|uc003nrv.3,p.R522H|ENST00000324771,p.R522H|ENST00000376568,p.R522H|NM_013993,p.R522H|uc003nrs.3,p.R522H|uc003nrr.3,p.R522H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003nrv.3 nonsynonymous SNV exon11 c.G1565A p.R522H NPAYRLLLATYARPPRGPGPPTPAW NPAYRLLLATYAHPPRGPGPPTPAW 10.0 5.0 - - 4240_6:30863232-30863232 G>A_NPAYRLLLATYAHPPRGPGPPTPAW 0.0 4:56759872-56759872 G>T 1.0 3919 MELANOMA - - - - EXOC1 uc003hbf.1,p.D627Y|uc003hbg.1,p.D612Y|ENST00000349598,p.D612Y|ENST00000381295,p.D627Y|ENST00000346134,p.D627Y|NM_018261,p.D627Y|uc003hbe.1,p.D627Y|NM_178237,p.D612Y|NM_001024924,p.D627Y retained_intron, protein_coding uc003hbg.1 nonsynonymous SNV exon14 c.G1834T p.D612Y KMSHHVWTAQNVDPASFLSTTLGNV KMSHHVWTAQNVYPASFLSTTLGNV 5.0 3.0 - - 3919_4:56759872-56759872 G>T_KMSHHVWTAQNVYPASFLSTTLGNV 0.0 19:55493003-55493003 G>A 0.0 3998 MELANOMA - - - - NLRP2 ENST00000538819,p.G115E|ENST00000391721,p.G115E|uc010esn.3,p.G115E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010esn.3 nonsynonymous SNV exon4 c.G344A p.G115E RKPLSLAFTETKGNVICLGKEVFKG RKPLSLAFTETKENVICLGKEVFKG 3.0 9.0 - - 3998_19:55493003-55493003 G>A_RKPLSLAFTETKENVICLGKEVFKG 0.0 8:119941025-119941025 C>T 1.0 3713 MELANOMA - - ID=COSM1095407,COSM1154943;OCCURENCE=1(endometrium) - TNFRSF11B NM_002546,p.D182N|ENST00000297350,p.D182N|uc003yon.4,p.D182N retained_intron, protein_coding, nonsense_mediated_decay uc003yon.4 nonsynonymous SNV exon3 c.G544A p.D182N GLLLTQKGNATHDNICSGNSESTQK GLLLTQKGNATHNNICSGNSESTQK 3.0 8.0 - - 3713_8:119941025-119941025 C>T_GLLLTQKGNATHNNICSGNSESTQK 0.0 1:34090130-34090130 C>T 0.0 4081 COLORECTAL - - - - CSMD2 uc001bxo.1,p.A745T|NM_001281956,p.A1872T|uc001bxn.1,p.A1832T|NM_052896,p.A1832T|ENST00000373380,p.A745T|ENST00000241312,p.A1832T|uc001bxm.1,p.A1872T|ENST00000373381,p.A1872T protein_coding, processed_transcript, nonsense_mediated_decay uc001bxo.1 nonsynonymous SNV exon14 c.G2233A p.A745T LNCVWKIVVPEGAGIQIQVVSFVTE LNCVWKIVVPEGTGIQIQVVSFVTE 2.0 8.0 - - 4081_1:34090130-34090130 C>T_LNCVWKIVVPEGTGIQIQVVSFVTE 0.0 3:33339184-33339184 T>C 1.0 4266 COLORECTAL - - - - FBXL2 ENST00000421391,p.I11T|uc003cfp.3,p.I11T|NM_012157,p.I11T|ENST00000484457,p.I11T|ENST00000507198,p.I11T|NM_001171713,p.I11T|uc021wuy.1,p.I11T|ENST00000538892,p.I11T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021wuy.1 nonsynonymous SNV exon2 c.T32C p.I11T MVFSNNDEGLINKKLPKELLLRI MVFSNNDEGLTNKKLPKELLLRI 6.0 5.0 - - 4266_3:33339184-33339184 T>C_MVFSNNDEGLTNKKLPKELLLRI 0.0 1:245530616-245530616 G>C 1.0 4046 OVARIAN - - - - KIF26B uc001ibf.1,p.D316H|NM_018012,p.D316H|uc010pyr.2,p.D116H|uc010pyq.1,p.D316H|ENST00000407071,p.D316H retained_intron, protein_coding, processed_transcript uc010pyr.2 nonsynonymous SNV exon2 c.G346C p.D116H LNSVAIQAHQYLDGTWSLSRTNGVT LNSVAIQAHQYLHGTWSLSRTNGVT 6.0 10.0 - - 4046_1:245530616-245530616 G>C_LNSVAIQAHQYLHGTWSLSRTNGVT 0.0 9:101980805-101980805 G>A 1.0 3713 MELANOMA - - - - ALG2 ENST00000476832,p.P221L|NM_033087,p.P221L|uc004azg.3,p.P128L|ENST00000319033,p.P128L|uc004azf.3,p.P221L protein_coding, nonsense_mediated_decay uc004azg.3 nonsynonymous SNV exon3 c.C383T p.P128L DSVVPEKLDDLVPKGKKFLLLSINR DSVVPEKLDDLVLKGKKFLLLSINR 8.0 4.0 - - 3713_9:101980805-101980805 G>A_DSVVPEKLDDLVLKGKKFLLLSINR 0.0 8:144886949-144886949 G>A 1.0 3713 MELANOMA - - - - SCRIB NM_015356,p.S933F|uc003yzo.1,p.S933F|uc003yzp.1,p.S933F|ENST00000377533,p.S852F|ENST00000356994,p.S933F|NM_182706,p.S933F|ENST00000320476,p.S933F retained_intron, protein_coding, processed_transcript uc003yzp.1 nonsynonymous SNV exon21 c.C2798T p.S933F VDVTEARHDHAVSLLTAASPTIALL VDVTEARHDHAVFLLTAASPTIALL 9.0 8.0 - - 3713_8:144886949-144886949 G>A_VDVTEARHDHAVFLLTAASPTIALL 0.0 8:2806856-2806856 C>T 1.0 4000 MELANOMA - - - - CSMD1 NM_033225,p.G3456E|ENST00000602557,p.G3457E|uc011kwj.2,p.G2771E|ENST00000542608,p.G3279E|uc022aqr.1,p.G3456E|ENST00000537824,p.G3456E|ENST00000520002,p.G3457E|ENST00000400186,p.G3280E|uc010lrg.3,p.G1348E|ENST00000602723,p.G3280E retained_intron, protein_coding, processed_transcript uc022aqr.1 nonsynonymous SNV exon68 c.G10367A p.G3456E ERGGFTFQGDIHGKDFGKFKLERQD ERGGFTFQGDIHEKDFGKFKLERQD 4.0 10.0 - - 4000_8:2806856-2806856 C>T_ERGGFTFQGDIHEKDFGKFKLERQD 0.0 X:134427929-134427929 C>A 0.0 3775 CERVICAL - - - - ZNF75D uc022ceq.1,p.E46D|ENST00000370766,p.E46D|uc004eyo.3,p.E46D|ENST00000370764,p.E46D|NM_001185063,p.E46D|NM_007131,p.E46D protein_coding, processed_transcript uc022ceq.1 nonsynonymous SNV exon2 c.G138T p.E46D KKYSTKIENLGPESACRHFWSFRYH KKYSTKIENLGPDSACRHFWSFRYH 7.0 8.0 - - 3775_X:134427929-134427929 C>A_KKYSTKIENLGPDSACRHFWSFRYH 0.0 7:55272964-55272964 C>T 1.0 3713 MELANOMA - - ID=COSM1451619;OCCURENCE=1(large_intestine) 1 EGFR ENST00000275493,p.S1096F|ENST00000454757,p.S1043F|uc003tqk.3,p.S1096F|uc022adn.1,p.S1051F|uc011kco.2,p.S1043F|NM_005228,p.S1096F retained_intron, protein_coding, processed_transcript uc022adn.1 nonsynonymous SNV exon27 c.C3152T p.S1051F DTFLPVPEYINQSVPKRPAGSVQNP DTFLPVPEYINQFVPKRPAGSVQNP 2.0 3.0 - - 3713_7:55272964-55272964 C>T_DTFLPVPEYINQFVPKRPAGSVQNP 0.0 13:113772782-113772782 G>T 0.0 4129 NSCLC - - - - F7 uc001vsv.4,p.Q287H|NM_000131,p.Q287H|NM_001267554,p.Q203H|NM_019616,p.Q265H|uc001vsw.4,p.Q265H|ENST00000541084,p.Q218H|ENST00000375581,p.Q287H|ENST00000346342,p.Q265H|uc010tjt.3,p.Q203H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010tjt.3 nonsynonymous SNV exon6 c.G609T p.Q203H EHDGDEQSRRVAQVIIPSTYVPGTT EHDGDEQSRRVAHVIIPSTYVPGTT 1.0 6.0 - - 4129_13:113772782-113772782 G>T_EHDGDEQSRRVAHVIIPSTYVPGTT 0.0 4:119951156-119951156 T>A 0.0 4149 OVARIAN - - - - SYNPO2 NM_001128934,p.L409Q|ENST00000429713,p.L409Q|uc003icm.4,p.L409Q|ENST00000307142,p.L409Q|ENST00000434046,p.L409Q|uc010inb.3,p.L409Q|uc010ina.3,p.L409Q|NM_001128933,p.L409Q|NM_001286754,p.L378Q|uc010inc.3,p.L337Q|NM_133477,p.L409Q protein_coding uc010inc.3 nonsynonymous SNV exon3 c.T1010A p.L337Q FKKRRRRARKYTLVSYGTGELEREA FKKRRRRARKYTQVSYGTGELEREA 4.0 5.0 - - 4149_4:119951156-119951156 T>A_FKKRRRRARKYTQVSYGTGELEREA 0.0 1:100715372-100715372 G>A 1.0 4000 MELANOMA - - - - DBT ENST00000370131,p.A2V|uc021oqo.1,p.A2V|uc001dta.3,p.A2V|NM_001918,p.A2V|ENST00000370132,p.A2V protein_coding uc021oqo.1 nonsynonymous SNV exon1 c.C5T p.A2V MAAVRMLRTWSRNA MVAVRMLRTWSRNA 7.0 9.0 CD8 - 4000_1:100715372-100715372 G>A_MVAVRMLRTWSRNA 1.0 16:1270330-1270330 G>A 0.0 4246 COLORECTAL - - - - CACNA1H uc002ckt.3,p.R2127H|ENST00000565831,p.R2127H|uc002ckv.3,p.R822H|uc002cku.3,p.R828H|ENST00000358590,p.R2127H|NM_001005407,p.R2127H|NM_021098,p.R2133H|uc002cks.3,p.R2133H|ENST00000348261,p.R2133H|uc010brj.3,p.R844H retained_intron, protein_coding uc010brj.3 nonsynonymous SNV exon17 c.G2531A p.R844H EASPVAGGERDLRRLYSVDAQGFLD EASPVAGGERDLHRLYSVDAQGFLD 4.0 6.0 - - 4246_16:1270330-1270330 G>A_EASPVAGGERDLHRLYSVDAQGFLD 0.0 1:35940486-35940486 G>C 1.0 4335 COLORECTAL - - - - KIAA0319L uc001byx.3,p.S312C|ENST00000325722,p.S312C|ENST00000426982,p.S312C|NM_024874,p.S312C|ENST00000478463,p.S312C|ENST00000482929,p.S312C|uc010ohx.1,p.S312C|ENST00000440579,p.S312C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ohx.1 nonsynonymous SNV exon5 c.C935G p.S312C SAPYPVIKELVVSAGESVQITLPKN SAPYPVIKELVVCAGESVQITLPKN 9.0 5.0 - - 4335_1:35940486-35940486 G>C_SAPYPVIKELVVCAGESVQITLPKN 0.0 4:65275050-65275050 G>A 0.0 3903 MELANOMA - - - - TECRL uc003hcv.3,p.S7F|NM_001010874,p.S7F|ENST00000381210,p.S7F|uc003hcw.3,p.S7F|ENST00000507440,p.S7F|ENST00000509536,p.S7F retained_intron, protein_coding, processed_transcript uc003hcw.3 nonsynonymous SNV exon1 c.C20T p.S7F MFKRHKSLASERKRALLSQ MFKRHKFLASERKRALLSQ 1.0 9.0 - - 3903_4:65275050-65275050 G>A_MFKRHKFLASERKRALLSQ 0.0 9:90502089-90502089 G>A 0.0 3903 MELANOMA - - - - SPATA31E1 NM_178828,p.G896E|uc004app.4,p.G896E|uc004apo.1,p.G708E|ENST00000325643,p.G896E protein_coding uc004app.4 nonsynonymous SNV exon4 c.G2687A p.G896E RVESVPKVPIFLGKRPQNGPGDNRT RVESVPKVPIFLEKRPQNGPGDNRT 1.0 10.0 - - 3903_9:90502089-90502089 G>A_RVESVPKVPIFLEKRPQNGPGDNRT 0.0 7:114304422-114304422 T>G 0.0 4081 COLORECTAL - - - - FOXP2 NM_001172766,p.L644R|ENST00000393494,p.L645R|ENST00000408937,p.L670R|uc003vha.3,p.L553R|ENST00000393489,p.L553R|uc003vgz.3,p.L670R|uc011kmv.2,p.L644R|ENST00000403559,p.L662R|ENST00000393491,p.L460R|ENST00000393498,p.L624R|ENST00000350908,p.L645R|NM_148898,p.L670R|NM_148900,p.L662R|uc003vhb.3,p.L645R|uc011kmu.2,p.L662R|uc010ljz.2,p.L460R|NM_014491,p.L645R protein_coding, processed_transcript, nonsense_mediated_decay uc011kmv.2 nonsynonymous SNV exon16 c.T1931G p.L644R ASSGLLQAVHEDLNGSLDHIDSNGN ASSGLLQAVHEDRNGSLDHIDSNGN 2.0 2.0 - - 4081_7:114304422-114304422 T>G_ASSGLLQAVHEDRNGSLDHIDSNGN 0.0 7:6732209-6732209 C>T 1.0 4326 BREAST - - - - ZNF12 NM_016265,p.D122N|ENST00000405858,p.D122N|uc003sqt.1,p.D122N protein_coding, processed_transcript uc003sqt.1 nonsynonymous SNV exon5 c.G364A p.D122N IEERGNVPGKTFDVETNPVPSRKIA IEERGNVPGKTFNVETNPVPSRKIA 8.0 9.0 - - 4326_7:6732209-6732209 C>T_IEERGNVPGKTFNVETNPVPSRKIA 0.0 22:42310266-42310266 C>G 0.0 4240 BREAST - - - - SHISA8 uc021wqh.1,p.E136Q|NM_001207020,p.E136Q protein_coding uc021wqh.1 nonsynonymous SNV exon1 c.G406C p.E136Q ARDTAAPRDPGRERSHTAVYAVCGV ARDTAAPRDPGRQRSHTAVYAVCGV 3.0 9.0 - - 4240_22:42310266-42310266 C>G_ARDTAAPRDPGRQRSHTAVYAVCGV 0.0 11:105789493-105789493 A>C 0.0 4278 COLORECTAL - - - - GRIA4 ENST00000530497,p.K442T|NM_001077243,p.K442T|uc001pix.2,p.K442T|ENST00000525187,p.K442T|ENST00000282499,p.K442T|ENST00000393127,p.K442T|NM_000829,p.K442T|uc001piw.2,p.K442T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001pix.2 nonsynonymous SNV exon11 c.A1325C p.K442T YKKNHEMFEGNDKYEGYCVDLASEI YKKNHEMFEGNDTYEGYCVDLASEI 1.0 9.0 - - 4278_11:105789493-105789493 A>C_YKKNHEMFEGNDTYEGYCVDLASEI 0.0 10:94228663-94228663 G>A 1.0 4189 MELANOMA - - - - IDE uc001kia.3,p.R765W|ENST00000371581,p.R210W|uc010qnp.2,p.R210W|ENST00000265986,p.R765W|NM_001165946,p.R210W|NM_004969,p.R765W|uc001khz.3,p.R210W protein_coding, processed_transcript uc010qnp.2 nonsynonymous SNV exon9 c.C628T p.R210W AHTKPLLPSQLVRYREVQLPDRGWF AHTKPLLPSQLVWYREVQLPDRGWF 8.0 6.0 - - 4189_10:94228663-94228663 G>A_AHTKPLLPSQLVWYREVQLPDRGWF 0.0 9:116931565-116931565 C>T 1.0 4237 NSCLC - - - - COL27A1 ENST00000451716,p.P524L|NM_032888,p.P577L|ENST00000356083,p.P577L|uc011lxl.2,p.P577L|uc010mvd.2,p.P427L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011lxl.2 nonsynonymous SNV exon3 c.C1730T p.P577L DVPLSDLTTRPSPRQPQPSQQTTPA DVPLSDLTTRPSLRQPQPSQQTTPA 7.0 3.0 - - 4237_9:116931565-116931565 C>T_DVPLSDLTTRPSLRQPQPSQQTTPA 0.0 X:20044026-20044026 G>A 1.0 4196 COLORECTAL - - - - MAP7D2 uc011mji.2,p.P258L|uc004czr.2,p.P310L|ENST00000379643,p.P351L|NM_001168467,p.P258L|NM_001168465,p.P351L|uc011mjj.2,p.P265L|uc010nfo.2,p.P351L|NM_001168466,p.P265L|ENST00000543767,p.P195L|ENST00000452324,p.P258L|ENST00000379651,p.P310L|NM_152780,p.P310L|ENST00000443379,p.P265L|uc004czq.2,p.P195L protein_coding, processed_transcript, nonsense_mediated_decay uc011mjj.2 nonsynonymous SNV exon7 c.C794T p.P265L TKAYPQSPKTTKPPYPGSPVKYRLP TKAYPQSPKTTKLPYPGSPVKYRLP 8.0 3.0 - - 4196_X:20044026-20044026 G>A_TKAYPQSPKTTKLPYPGSPVKYRLP 0.0 19:20228764-20228764 A>C 0.0 4316 COLORECTAL - - - - ZNF90 NM_007138,p.N134T|ENST00000418063,p.N134T|uc002nor.2,p.N134T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002nor.2 nonsynonymous SNV exon4 c.A401C p.N134T EGKVHKRGYNGLNQCLTATQSKVFQ EGKVHKRGYNGLTQCLTATQSKVFQ 6.0 3.0 - - 4316_19:20228764-20228764 A>C_EGKVHKRGYNGLTQCLTATQSKVFQ 0.0 18:59713138-59713138 G>T 1.0 3903 MELANOMA - - - - PIGN NM_012327,p.T916K|ENST00000400334,p.T916K|uc021ulb.1,p.T916K|ENST00000357637,p.T916K|NM_176787,p.T916K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021ulb.1 nonsynonymous SNV exon28 c.C2747A p.T916K FLVFLNGLAQLLTTKKLRLCGKPKS FLVFLNGLAQLLKTKKLRLCGKPKS 6.0 10.0 - - 3903_18:59713138-59713138 G>T_FLVFLNGLAQLLKTKKLRLCGKPKS 0.0 22:50662684-50662684 C>T 1.0 4320 COLORECTAL - - - - TUBGCP6 ENST00000439308,p.R719Q|ENST00000248846,p.R719Q|uc003bkb.1,p.R719Q|uc010har.1,p.R719Q|uc003bkd.1,p.R73Q|NM_020461,p.R719Q retained_intron, protein_coding, processed_transcript uc010har.1 nonsynonymous SNV exon13 c.G2156A p.R719Q QRLKEQFVKDQERRQAARQEELDDD QRLKEQFVKDQEQRQAARQEELDDD 7.0 10.0 - - 4320_22:50662684-50662684 C>T_QRLKEQFVKDQEQRQAARQEELDDD 0.0 X:54186007-54186007 A>C 1.0 2369 MELANOMA - - - - FAM120C uc004dsz.4,p.F248V|NM_001300788,p.F248V|ENST00000328235,p.F248V|uc011moh.2,p.F248V|NM_017848,p.F248V|ENST00000375180,p.F248V protein_coding, processed_transcript uc011moh.2 nonsynonymous SNV exon2 c.T742G p.F248V QSLEDHHLEVVAFFRENGFHGLLAH QSLEDHHLEVVAVFRENGFHGLLAH 6.0 10.0 - - 2369_X:54186007-54186007 A>C_QSLEDHHLEVVAVFRENGFHGLLAH 0.0 11:2909613-2909613 C>T 0.0 4258 ENDOMETRIAL - - - - SLC22A18AS ENST00000455942,p.A84T|ENST00000533594,p.A187T|ENST00000526203,p.A84T|NM_007105,p.A187T|uc001lwv.4,p.A187T protein_coding uc001lwv.4 nonsynonymous SNV exon4 c.G559A p.A187T CSEENAKAGGCSAFPLLLSQLGARM CSEENAKAGGCSTFPLLLSQLGARM 4.0 10.0 - - 4258_11:2909613-2909613 C>T_CSEENAKAGGCSTFPLLLSQLGARM 0.0 1:158639344-158639344 G>A 0.0 3775 CERVICAL - - - - SPTA1 NM_003126,p.R563W|uc001fst.1,p.R563W|ENST00000368147,p.R563W|ENST00000368148,p.R563W protein_coding, processed_transcript uc001fst.1 nonsynonymous SNV exon14 c.C1687T p.R563W ENIKAIRDGLLARRDALREKAATRR ENIKAIRDGLLAWRDALREKAATRR 1.0 8.0 - - 3775_1:158639344-158639344 G>A_ENIKAIRDGLLAWRDALREKAATRR 0.0 8:27151790-27151790 T>C 1.0 4320 COLORECTAL - - - - TRIM35 ENST00000305364,p.E190G|uc010lup.1,p.E158G|ENST00000521253,p.E158G|uc003xfl.1,p.E190G|NM_171982,p.E190G retained_intron, protein_coding uc010lup.1 nonsynonymous SNV exon2 c.A473G p.E158G VEAAWLEGRIRQEFDKLREFLRVEE VEAAWLEGRIRQGFDKLREFLRVEE 6.0 3.0 - - 4320_8:27151790-27151790 T>C_VEAAWLEGRIRQGFDKLREFLRVEE 0.0 17:43922661-43922661 C>T 0.0 4240 BREAST - - - - SPPL2C uc010wka.2,p.S130L|NM_175882,p.S130L|ENST00000329196,p.S130L protein_coding uc010wka.2 nonsynonymous SNV exon1 c.C389T p.S130L LLIVSRVSDQQCSDTTLAPQDPRQP LLIVSRVSDQQCLDTTLAPQDPRQP 1.0 10.0 - - 4240_17:43922661-43922661 C>T_LLIVSRVSDQQCLDTTLAPQDPRQP 0.0 19:37382573-37382573 G>T 0.0 4245 COLORECTAL - - - - ZNF829 ENST00000520965,p.H455N|NM_001171979,p.H455N|ENST00000391711,p.H374N|uc021utr.1,p.H455N|uc002ofa.2,p.H374N|NM_001037232,p.H374N retained_intron, protein_coding uc021utr.1 nonsynonymous SNV exon6 c.C1363A p.H455N IQSSELIQHQRIHTDEKPYECNECG IQSSELIQHQRINTDEKPYECNECG 5.0 2.0 - - 4245_19:37382573-37382573 G>T_IQSSELIQHQRINTDEKPYECNECG 0.0 2:136111084-136111084 C>T 1.0 2591 MELANOMA - - - - ZRANB3 ENST00000536680,p.E99K|uc002tul.3,p.E99K|uc002tun.1,p.E39K|ENST00000401392,p.E99K|NM_032143,p.E99K|uc002tum.3,p.E99K|ENST00000403017,p.E99K|ENST00000264159,p.E99K|NM_001286568,p.E99K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002tun.1 nonsynonymous SNV exon2 c.G115A p.E39K PSSLRYPWTEEIEKWIPELSPEEIN PSSLRYPWTEEIKKWIPELSPEEIN 6.0 6.0 - - 2591_2:136111084-136111084 C>T_PSSLRYPWTEEIKKWIPELSPEEIN 0.0 7:117067469-117067469 C>T 0.0 4301 MELANOMA - - ID=COSM598560;OCCURENCE=1(lung) - ASZ1 ENST00000450714,p.E16K|uc003vjb.2,p.E16K|ENST00000284629,p.E16K|NM_130768,p.E16K|uc011kno.1,p.E16K|NM_001301821,p.E16K retained_intron, protein_coding, nonsense_mediated_decay uc011kno.1 nonsynonymous SNV exon1 c.G46A p.E16K SALRGLPVAGGGESSESEDDGWEIG SALRGLPVAGGGKSSESEDDGWEIG 1.0 10.0 - - 4301_7:117067469-117067469 C>T_SALRGLPVAGGGKSSESEDDGWEIG 0.0 22:31333588-31333588 G>A 1.0 3466 MELANOMA - - - - MORC2 ENST00000397641,p.P494S|ENST00000215862,p.P432S|NM_014941,p.P432S|uc003aje.1,p.P432S retained_intron, protein_coding, processed_transcript uc003aje.1 nonsynonymous SNV exon16 c.C1294T p.P432S ELRYKRRRAMEIPTTIQCDLCLKWR ELRYKRRRAMEISTTIQCDLCLKWR 8.0 3.0 - - 3466_22:31333588-31333588 G>A_ELRYKRRRAMEISTTIQCDLCLKWR 0.0 3:30769838-30769838 C>T 0.0 3903 MELANOMA - - - - GADL1 ENST00000282538,p.G488R|uc003cep.2,p.G488R|NM_207359,p.G488R protein_coding, processed_transcript uc003cep.2 nonsynonymous SNV exon15 c.G1462A p.G488R KGSLMLGYQPHRGKVNFFRQVVISP KGSLMLGYQPHRRKVNFFRQVVISP 1.0 8.0 - - 3903_3:30769838-30769838 C>T_KGSLMLGYQPHRRKVNFFRQVVISP 0.0 2:96956144-96956144 G>A 1.0 3466 MELANOMA - - - - SNRNP200 NM_014014,p.P888S|ENST00000323853,p.P888S|uc002svu.3,p.P888S retained_intron, protein_coding, nonsense_mediated_decay uc002svu.3 nonsynonymous SNV exon20 c.C2662T p.P888S LQYYLSLLNQQLPIESQMVSKLPDM LQYYLSLLNQQLSIESQMVSKLPDM 10.0 7.0 - - 3466_2:96956144-96956144 G>A_LQYYLSLLNQQLSIESQMVSKLPDM 0.0 1:32256329-32256329 G>A 1.0 4155 MELANOMA 0.0027 - - - SPOCD1 NM_001281988,p.P656S|NM_144569,p.P1176S|uc001btv.3,p.P656S|uc001btu.3,p.P1163S|uc001bts.1,p.P1176S|ENST00000533231,p.P1163S|NM_001281987,p.P1163S|ENST00000452755,p.P599S|ENST00000360482,p.P1176S|ENST00000257100,p.P656S retained_intron, protein_coding uc001btv.3 nonsynonymous SNV exon15 c.C1966T p.P656S QALLCPQTKSSIPRPLQRLSSALAA QALLCPQTKSSISRPLQRLSSALAA 6.0 10.0 - - 4155_1:32256329-32256329 G>A_QALLCPQTKSSISRPLQRLSSALAA 0.0 13:32749722-32749722 A>C 1.0 4320 COLORECTAL - - - - FRY uc001utx.3,p.S792R|ENST00000380250,p.S792R|NM_023037,p.S792R protein_coding, processed_transcript, nonsense_mediated_decay uc001utx.3 nonsynonymous SNV exon20 c.A2374C p.S792R DDRPMIDVMDQLSSSILESFIHVAV DDRPMIDVMDQLRSSILESFIHVAV 6.0 2.0 - - 4320_13:32749722-32749722 A>C_DDRPMIDVMDQLRSSILESFIHVAV 0.0 5:9122831-9122831 G>A 1.0 4237 NSCLC - - - - SEMA5A ENST00000382496,p.P573L|uc003jek.2,p.P573L|NM_003966,p.P573L protein_coding, nonsense_mediated_decay uc003jek.2 nonsynonymous SNV exon14 c.C1718T p.P573L GSCLCRTRSCDSPAPQCGGWQCEGP GSCLCRTRSCDSLAPQCGGWQCEGP 6.0 9.0 - - 4237_5:9122831-9122831 G>A_GSCLCRTRSCDSLAPQCGGWQCEGP 0.0 11:122709283-122709283 C>A 0.0 4259 COLORECTAL - - - - CRTAM uc001pyj.3,p.A10E|ENST00000227348,p.A10E|NM_019604,p.A10E retained_intron, protein_coding uc001pyj.3 nonsynonymous SNV exon1 c.C29A p.A10E MWWRVLSLLAWFPLQEASLTNH MWWRVLSLLEWFPLQEASLTNH 4.0 5.0 - - 4259_11:122709283-122709283 C>A_MWWRVLSLLEWFPLQEASLTNH 0.0 7:73791033-73791033 C>G 1.0 3713 MELANOMA - - - - CLIP2 ENST00000395060,p.R768G|ENST00000223398,p.R768G|NM_032421,p.R733G|uc003uam.3,p.R768G|uc003uan.3,p.R733G|ENST00000361545,p.R733G|uc003uao.3,p.R162G|NM_003388,p.R768G retained_intron, protein_coding uc003uao.3 nonsynonymous SNV exon1 c.C484G p.R162G ISLAEKKMLDYERLQRAEAQGKQEV ISLAEKKMLDYEGLQRAEAQGKQEV 8.0 9.0 - - 3713_7:73791033-73791033 C>G_ISLAEKKMLDYEGLQRAEAQGKQEV 0.0 7:144060804-144060804 T>G 1.0 4252 COLORECTAL - - - - ARHGEF5 NM_005435,p.F348V|ENST00000056217,p.F348V|uc003wel.3,p.F348V|uc003wek.3,p.F348V protein_coding uc003wel.3 nonsynonymous SNV exon2 c.T1042G p.F348V NRADSQDEKSQTFLGKSEEVTGKQE NRADSQDEKSQTVLGKSEEVTGKQE 9.0 4.0 - - 4252_7:144060804-144060804 T>G_NRADSQDEKSQTVLGKSEEVTGKQE 0.0 4:125592226-125592226 C>A 1.0 4134 NSCLC - - - - ANKRD50 NM_001167882,p.D557Y|uc011cgo.2,p.D557Y|ENST00000515641,p.D557Y|NM_020337,p.D736Y|ENST00000504087,p.D736Y|uc010inw.3,p.D736Y protein_coding uc011cgo.2 nonsynonymous SNV exon3 c.G1669T p.D557Y SKGHASVVSLLIDRGAEVDHCDKDG SKGHASVVSLLIYRGAEVDHCDKDG 6.0 4.0 - - 4134_4:125592226-125592226 C>A_SKGHASVVSLLIYRGAEVDHCDKDG 0.0 19:327884-327884 G>A 1.0 3713 MELANOMA - - - - MIER2 ENST00000264819,p.P117S|NM_017550,p.P117S|uc002lok.1,p.P117S retained_intron, protein_coding uc002lok.1 nonsynonymous SNV exon4 c.C349T p.P117S RESEGGDVAPNLPDMTLDKEQIAKD RESEGGDVAPNLSDMTLDKEQIAKD 4.0 4.0 - - 3713_19:327884-327884 G>A_RESEGGDVAPNLSDMTLDKEQIAKD 0.0 19:56329414-56329414 G>A 0.0 2369 MELANOMA - - - - NLRP11 ENST00000443188,p.P43S|ENST00000589824,p.P43S|ENST00000589093,p.P43S|ENST00000360133,p.P43S|uc010ygf.2,p.P43S|NM_145007,p.P43S|ENST00000593244,p.P43S protein_coding, nonsense_mediated_decay uc010ygf.2 nonsynonymous SNV exon4 c.C127T p.P43S ARKILDFKLPQFPLIQMTKEELANV ARKILDFKLPQFSLIQMTKEELANV 5.0 5.0 - - 2369_19:56329414-56329414 G>A_ARKILDFKLPQFSLIQMTKEELANV 0.0 9:131765186-131765186 A>C 1.0 4245 COLORECTAL - - - - NUP188 uc004bws.2,p.T1410P|uc004bwu.3,p.T753P|ENST00000372577,p.T1410P|NM_015354,p.T1410P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004bwu.3 nonsynonymous SNV exon18 c.A2257C p.T753P RLSMSLMEQLLKTLRYNFLPEALDF RLSMSLMEQLLKPLRYNFLPEALDF 7.0 4.0 - - 4245_9:131765186-131765186 A>C_RLSMSLMEQLLKPLRYNFLPEALDF 0.0 7:7480446-7480446 C>A 0.0 4245 COLORECTAL - - - - COL28A1 uc011jxe.1,p.G249V|ENST00000399429,p.G566V|uc003src.1,p.G566V|NM_001037763,p.G566V|uc003srd.3,p.G121V retained_intron, protein_coding, nonsense_mediated_decay uc011jxe.1 nonsynonymous SNV exon22 c.G746T p.G249V GKKGSKGNQGQRGLPGPEGPKGEPG GKKGSKGNQGQRVLPGPEGPKGEPG 4.0 10.0 - - 4245_7:7480446-7480446 C>A_GKKGSKGNQGQRVLPGPEGPKGEPG 0.0 11:6653496-6653496 C>T 0.0 4110 BILE DUCT - - - - DCHS1 NM_003737,p.G1083R|uc001mem.1,p.G1083R|ENST00000299441,p.G1083R protein_coding uc001mem.1 nonsynonymous SNV exon6 c.G3247A p.G1083R KVMAVSGSKAELGQQTGTATVRVSI KVMAVSGSKAELRQQTGTATVRVSI 2.0 8.0 - - 4110_11:6653496-6653496 C>T_KVMAVSGSKAELRQQTGTATVRVSI 0.0 19:6586405-6586405 C>T 1.0 3713 MELANOMA - - - - CD70 NM_001252,p.D70N|uc010xjf.1,p.D70N|ENST00000245903,p.D70N|uc002mfi.3,p.D70N|ENST00000423145,p.D70N protein_coding uc010xjf.1 nonsynonymous SNV exon3 c.G208A p.D70N AELQLNHTGPQQDPRLYWQGGPALG AELQLNHTGPQQNPRLYWQGGPALG 2.0 10.0 - - 3713_19:6586405-6586405 C>T_AELQLNHTGPQQNPRLYWQGGPALG 0.0 1:159162383-159162383 G>A 1.0 3713 MELANOMA - - ID=COSM897972;OCCURENCE=1(endometrium),1(skin) - CADM3 uc001ftk.2,p.R116Q|NM_001127173,p.R82Q|ENST00000416746,p.R82Q|ENST00000368125,p.R82Q|uc001ftl.2,p.R82Q|ENST00000368124,p.R116Q|NM_021189,p.R116Q|uc009wsx.1,p.R116Q|uc009wsy.1,p.R82Q protein_coding, processed_transcript uc009wsy.1 nonsynonymous SNV exon3 c.G245A p.R82Q LYFGEKRALRDNRIQLVTSTPHELS LYFGEKRALRDNQIQLVTSTPHELS 10.0 5.0 - - 3713_1:159162383-159162383 G>A_LYFGEKRALRDNQIQLVTSTPHELS 0.0 4:91230226-91230226 C>T 1.0 4129 NSCLC - - - - CCSER1 uc003hsw.3,p.T264I|NM_001145065,p.T264I|uc003hsu.3,p.T264I|ENST00000509176,p.T264I|NM_207491,p.T264I|ENST00000505073,p.T264I|uc003hsv.4,p.T264I|ENST00000333691,p.T264I|ENST00000432775,p.T264I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003hsw.3 nonsynonymous SNV exon2 c.C791T p.T264I TTAQTPSEFLALTEDSVSEMDAFSK TTAQTPSEFLALIEDSVSEMDAFSK 2.0 3.0 - - 4129_4:91230226-91230226 C>T_TTAQTPSEFLALIEDSVSEMDAFSK 0.0 4:102117208-102117208 G>A 1.0 3713 MELANOMA - - - - PPP3CA ENST00000512215,p.R42C|ENST00000394853,p.R42C|ENST00000394854,p.R42C|uc010ilj.2,p.R42C|NM_000944,p.R42C|uc010ilk.2,p.R42C|uc003hvt.2,p.R29C|NM_001130692,p.R42C|ENST00000323055,p.R42C|uc003hvu.2,p.R42C|uc011cen.1,p.R42C|NM_001130691,p.R42C protein_coding, processed_transcript, nonsense_mediated_decay uc011cen.1 nonsynonymous SNV exon2 c.C124T p.R42C TAKEVFDNDGKPRVDILKAHLMKEG TAKEVFDNDGKPCVDILKAHLMKEG 6.0 5.0 - - 3713_4:102117208-102117208 G>A_TAKEVFDNDGKPCVDILKAHLMKEG 0.0 2:136630367-136630367 C>T 1.0 4258 ENDOMETRIAL - - - - MCM6 uc002tuw.4,p.E52K|NM_005915,p.E52K|ENST00000264156,p.E52K retained_intron, protein_coding, processed_transcript uc002tuw.4 nonsynonymous SNV exon2 c.G154A p.E52K SDGEIKYLQLAEELIRPERNTLVVS SDGEIKYLQLAEKLIRPERNTLVVS 9.0 7.0 CD8 - 4258_2:136630367-136630367 C>T_SDGEIKYLQLAEKLIRPERNTLVVS 2.0 X:53111841-53111841 C>T 0.0 4081 COLORECTAL - - - - TSPYL2 uc004drv.3,p.A54V|ENST00000375442,p.A54V|NM_022117,p.A54V|uc004drw.3,p.A54V retained_intron, protein_coding, nonsense_mediated_decay uc004drw.3 nonsynonymous SNV exon1 c.C161T p.A54V PQQRPRLQEETEAAQVLADMRGVGL PQQRPRLQEETEVAQVLADMRGVGL 5.0 5.0 - - 4081_X:53111841-53111841 C>T_PQQRPRLQEETEVAQVLADMRGVGL 0.0 7:99751562-99751562 G>C 1.0 4240 BREAST - - - - LAMTOR4 ENST00000341942,p.R92P|uc003utq.2,p.R92P|NM_001008395,p.R92P retained_intron, protein_coding, processed_transcript uc003utq.2 nonsynonymous SNV exon4 c.G275C p.R92P SGQRVFVVKRQNRGREPIDV SGQRVFVVKRQNPGREPIDV 10.0 9.0 - - 4240_7:99751562-99751562 G>C_SGQRVFVVKRQNPGREPIDV 0.0 5:170818389-170818389 A>C 1.0 4037 NSCLC - - - 1 NPM1 uc003mbi.3,p.K73N|ENST00000296930,p.K73N|NM_199185,p.K73N|NM_001037738,p.K73N|ENST00000517671,p.K73N|uc003mbh.3,p.K73N|uc003mbj.3,p.K73N|ENST00000351986,p.K73N|NM_002520,p.K73N|ENST00000393820,p.K73N retained_intron, protein_coding uc003mbj.3 nonsynonymous SNV exon3 c.A219C p.K73N EAEAMNYEGSPIKVTLATLKMSVQP EAEAMNYEGSPINVTLATLKMSVQP 10.0 8.0 CD8 - 4037_5:170818389-170818389 A>C_EAEAMNYEGSPINVTLATLKMSVQP 1.0 4:3441325-3441325 C>G 1.0 3775 CERVICAL - - - - RGS12 uc003ggw.3,p.P1420A|uc010icv.3,p.P619A|uc003gha.3,p.P762A|ENST00000338806,p.P772A|NM_198227,p.P772A|ENST00000344733,p.P1420A|NM_198229,p.P1420A|uc003ggz.3,p.P772A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010icv.3 nonsynonymous SNV exon14 c.C1855G p.P619A AGPGRSQASGGPPTSDLPGLGPVPG AGPGRSQASGGPATSDLPGLGPVPG 9.0 7.0 - - 3775_4:3441325-3441325 C>G_AGPGRSQASGGPATSDLPGLGPVPG 0.0 11:237103-237103 G>T 1.0 4071 COLORECTAL - - - - PSMD13 NM_002817,p.Q18H|NM_175932,p.Q18H|ENST00000525665,p.Q18H|ENST00000352303,p.Q18H|ENST00000382671,p.Q18H|uc001lol.2,p.Q18H|ENST00000431206,p.Q18H|uc001loo.2,p.Q18H|ENST00000532097,p.Q18H|ENST00000529372,p.Q18H|ENST00000528906,p.Q18H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001loo.2 nonsynonymous SNV exon1 c.G54T p.Q18H GFLQQSQNSGPGQPAVWHRLEELYT GFLQQSQNSGPGHPAVWHRLEELYT 9.0 9.0 - - 4071_11:237103-237103 G>T_GFLQQSQNSGPGHPAVWHRLEELYT 0.0 7:100642866-100642866 C>A 0.0 4237 NSCLC - - - - MUC12 uc003uxo.3,p.P3008T|ENST00000536621,p.P3008T|ENST00000379442,p.P3151T|NM_001164462,p.P3008T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003uxo.3 nonsynonymous SNV exon2 c.C9022A p.P3008T TFQSWPSSSDTTPSPPGTTAAPVEV TFQSWPSSSDTTTSPPGTTAAPVEV 5.0 7.0 - - 4237_7:100642866-100642866 C>A_TFQSWPSSSDTTTSPPGTTAAPVEV 0.0 15:72192104-72192104 T>G 1.0 4320 COLORECTAL - - - - MYO9A uc010biq.4,p.S752R|ENST00000424560,p.S1132R|ENST00000356056,p.S1132R|ENST00000564571,p.S1132R|uc002atl.5,p.S1132R|ENST00000566885,p.S752R|uc002atn.1,p.S1113R|ENST00000444904,p.S1113R|NM_006901,p.S1132R retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010biq.4 nonsynonymous SNV exon22 c.A2254C p.S752R ICIQARWKAYRESKRYQEQRKKIIL ICIQARWKAYRERKRYQEQRKKIIL 8.0 3.0 - - 4320_15:72192104-72192104 T>G_ICIQARWKAYRERKRYQEQRKKIIL 0.0 12:123082472-123082472 G>A 1.0 2591 MELANOMA - - - - KNTC1 NM_014708,p.G1517E|uc001ucv.3,p.G1517E|ENST00000333479,p.G1517E|ENST00000423927,p.G76E retained_intron, protein_coding, processed_transcript uc001ucv.3 nonsynonymous SNV exon44 c.G4550A p.G1517E LTSTKDLVISLSGILHKLDPYDYEM LTSTKDLVISLSEILHKLDPYDYEM 7.0 6.0 - - 2591_12:123082472-123082472 G>A_LTSTKDLVISLSEILHKLDPYDYEM 0.0 12:116434861-116434861 A>C 1.0 4240 BREAST - - - - MED13L uc001tvw.3,p.M915R|ENST00000281928,p.M915R|NM_015335,p.M915R retained_intron, protein_coding, processed_transcript uc001tvw.3 nonsynonymous SNV exon15 c.T2744G p.M915R VSMVSTQLTEFKMEVEDGLGSPKPE VSMVSTQLTEFKREVEDGLGSPKPE 9.0 7.0 - - 4240_12:116434861-116434861 A>C_VSMVSTQLTEFKREVEDGLGSPKPE 0.0 19:50099778-50099778 A>C 0.0 4335 COLORECTAL - - - - PRR12 uc002poo.4,p.K729T|NM_020719,p.K729T|ENST00000418929,p.K729T retained_intron, protein_coding uc002poo.4 nonsynonymous SNV exon4 c.A2186C p.K729T ALELGLGRLKEKKKGPERGGETPEG ALELGLGRLKEKTKGPERGGETPEG 7.0 6.0 - - 4335_19:50099778-50099778 A>C_ALELGLGRLKEKTKGPERGGETPEG 0.0 16:83065641-83065641 G>A 0.0 3713 MELANOMA - - - - CDH13 ENST00000446376,p.D62N|NM_001220491,p.D62N|NM_001220489,p.D62N|uc010vnu.2,p.D62N|NM_001257,p.D62N|ENST00000566620,p.D62N|NM_001220488,p.D109N|ENST00000431540,p.D62N|NM_001220492,p.D62N|uc002fgx.3,p.D62N|uc010chh.3,p.D62N|ENST00000565636,p.D62N|ENST00000428848,p.D62N|ENST00000268613,p.D109N|uc010vns.2,p.D109N|uc021tlw.1,p.D62N retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021tlw.1 nonsynonymous SNV exon3 c.G184A p.D62N ILNLTFSDCKGNDKLRYEVSSPYFK ILNLTFSDCKGNNKLRYEVSSPYFK 3.0 2.0 - - 3713_16:83065641-83065641 G>A_ILNLTFSDCKGNNKLRYEVSSPYFK 0.0 18:43217053-43217053 C>T 0.0 4160 COLORECTAL - - - - SLC14A2 NM_001242692,p.A250V|uc002lbe.3,p.A250V|uc002lbb.3,p.A250V|uc010dnj.3,p.A250V|ENST00000255226,p.A250V|ENST00000586448,p.A250V|NM_007163,p.A250V protein_coding, nonsense_mediated_decay uc010dnj.3 nonsynonymous SNV exon7 c.C749T p.A250V LPFNIAVTLYLAATGHYNLFFPTTL LPFNIAVTLYLAVTGHYNLFFPTTL 1.0 6.0 - - 4160_18:43217053-43217053 C>T_LPFNIAVTLYLAVTGHYNLFFPTTL 0.0 3:56809134-56809134 T>G 0.0 4345 COLORECTAL - - - - ARHGEF3 ENST00000497267,p.E3A|uc011bev.1,p.E3A protein_coding, processed_transcript, nonsense_mediated_decay uc011bev.1 nonsynonymous SNV exon1 c.A8C p.E3A MIEEPSNKRVKPLSR MIAEPSNKRVKPLSR 7.0 6.0 - - 4345_3:56809134-56809134 T>G_MIAEPSNKRVKPLSR 0.0 11:32955998-32955998 T>C 1.0 2591 MELANOMA - - - - QSER1 uc001mtz.1,p.L697P|uc001mty.3,p.L936P|ENST00000527788,p.L697P|NM_001076786,p.L936P|ENST00000399302,p.L936P|uc001mua.3,p.L441P retained_intron, protein_coding, processed_transcript uc001mua.3 nonsynonymous SNV exon1 c.T1322C p.L441P NQVTVNLSPVPALQSKMTLDQQHIE NQVTVNLSPVPAPQSKMTLDQQHIE 6.0 3.0 - - 2591_11:32955998-32955998 T>C_NQVTVNLSPVPAPQSKMTLDQQHIE 0.0 22:30887938-30887938 G>A 0.0 3795 MELANOMA - - - - SEC14L4 uc011akz.1,p.P265L|NM_174977,p.P265L|uc003aid.2,p.P265L|NM_001161368,p.P265L|uc003aif.2,p.P211L|ENST00000255858,p.P265L|ENST00000392772,p.P211L|ENST00000381982,p.P265L|uc003aie.2,p.P250L|ENST00000540456,p.P250L protein_coding, nonsense_mediated_decay uc011akz.1 nonsynonymous SNV exon10 c.C794T p.P265L KCLTKINYGGEVPKSYYLCEQVRLQ KCLTKINYGGEVLKSYYLCEQVRLQ 1.0 7.0 - - 3795_22:30887938-30887938 G>A_KCLTKINYGGEVLKSYYLCEQVRLQ 0.0 1:243328281-243328281 C>A 1.0 4196 COLORECTAL - - - - CEP170 NM_001042405,p.S896I|uc001hzv.1,p.S372I|ENST00000366544,p.S896I|uc021plq.1,p.S896I|ENST00000366543,p.S896I|NM_001042404,p.S896I|uc021plo.1,p.S994I|ENST00000366542,p.S994I|NM_014812,p.S994I|uc021plp.1,p.S896I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021plq.1 nonsynonymous SNV exon12 c.G2687T p.S896I SGAREKMEKKTKSRSTDVGSRADGR SGAREKMEKKTKIRSTDVGSRADGR 9.0 7.0 - - 4196_1:243328281-243328281 C>A_SGAREKMEKKTKIRSTDVGSRADGR 0.0 1:9063447-9063447 C>T 0.0 2591 MELANOMA - - - - SLC2A7 ENST00000400906,p.R484K|NM_207420,p.R484K|uc009vmo.1,p.R484K protein_coding uc009vmo.1 nonsynonymous SNV exon12 c.G1451A p.R484K KTFVEINRIFAKRNRVKLPEEKEET KTFVEINRIFAKKNRVKLPEEKEET 1.0 4.0 - - 2591_1:9063447-9063447 C>T_KTFVEINRIFAKKNRVKLPEEKEET 0.0 22:46326985-46326985 C>A 0.0 4287 COLORECTAL - - - - WNT7B uc010haa.2,p.G192V|uc003bgo.2,p.G188V|NM_058238,p.G188V|ENST00000339464,p.G188V|ENST00000409496,p.G192V|ENST00000410089,p.G172V protein_coding uc010haa.2 nonsynonymous SNV exon3 c.G575T p.G192V ARRLMNLHNNEAGRKVLEDRMQLEC ARRLMNLHNNEAVRKVLEDRMQLEC 1.0 9.0 - - 4287_22:46326985-46326985 C>A_ARRLMNLHNNEAVRKVLEDRMQLEC 0.0 4:187130267-187130267 G>T 0.0 4246 COLORECTAL - - - - CYP4V2 NM_207352,p.G416C|ENST00000378802,p.G416C|uc003iyw.4,p.G416C processed_transcript, protein_coding,retained_intron uc003iyw.4 nonsynonymous SNV exon10 c.G1246T p.G416C EDCEVAGYRVLKGTEAVIIPYALHR EDCEVAGYRVLKCTEAVIIPYALHR 5.0 6.0 - - 4246_4:187130267-187130267 G>T_EDCEVAGYRVLKCTEAVIIPYALHR 0.0 9:104432505-104432505 C>T 0.0 3903 MELANOMA - - - - GRIN3A NM_133445,p.R730K|uc004bbp.2,p.R730K|ENST00000361820,p.R730K|uc004bbq.1,p.R730K protein_coding, processed_transcript uc004bbq.1 nonsynonymous SNV exon3 c.G2189A p.R730K SALNICYALLFGRTVAIKPPKCWTG SALNICYALLFGKTVAIKPPKCWTG 3.0 10.0 - - 3903_9:104432505-104432505 C>T_SALNICYALLFGKTVAIKPPKCWTG 0.0 5:140711683-140711683 G>A 1.0 2556 MELANOMA - - - - PCDHGA1 uc011dan.2,p.D478N|ENST00000378105,p.D478N|uc003lji.2,p.D478N|NM_018912,p.D478N|NM_031993,p.D478N|ENST00000517417,p.D478N protein_coding uc011dan.2 nonsynonymous SNV exon1 c.G1432A p.D478N PRGASIFSVRAHDLDSNENAQITYS PRGASIFSVRAHNLDSNENAQITYS 5.0 8.0 - - 2556_5:140711683-140711683 G>A_PRGASIFSVRAHNLDSNENAQITYS 0.0 12:25243087-25243087 G>A 0.0 4126 NSCLC - - - - LRMP uc001rgh.3,p.E188K|ENST00000354454,p.E188K|NM_001204127,p.E188K|ENST00000547044,p.E188K|ENST00000536173,p.E135K|uc010sjd.2,p.E135K|ENST00000361433,p.E188K|ENST00000548766,p.E188K|uc010sjc.2,p.E188K|uc010sja.2,p.E188K|NM_001204126,p.E188K|NM_006152,p.E188K|uc010sjb.2,p.E135K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010sjd.2 nonsynonymous SNV exon9 c.G403A p.E135K VKLEERSRDLAEENLKKEITNCLKL VKLEERSRDLAEKNLKKEITNCLKL 4.0 2.0 - - 4126_12:25243087-25243087 G>A_VKLEERSRDLAEKNLKKEITNCLKL 0.0 3:52256957-52256957 C>T 0.0 3713 MELANOMA - - - - TLR9 ENST00000360658,p.D459N|ENST00000597542,p.D483N|uc003dda.2,p.D459N|NM_017442,p.D459N|uc003ddb.3,p.D556N protein_coding uc003ddb.3 nonsynonymous SNV exon5 c.G1666A p.D556N WLQPGDLAPAPVDTPSSEDFRPNCS WLQPGDLAPAPVNTPSSEDFRPNCS 2.0 6.0 - - 3713_3:52256957-52256957 C>T_WLQPGDLAPAPVNTPSSEDFRPNCS 0.0 1:156035812-156035812 C>T 1.0 4240 BREAST - - - - RAB25 ENST00000361084,p.R52C|NM_020387,p.R52C|uc001fnc.3,p.R52C protein_coding, processed_transcript uc001fnc.3 nonsynonymous SNV exon2 c.C154T p.R52C DSRTTIGVEFSTRTVMLGTAAVKAQ DSRTTIGVEFSTCTVMLGTAAVKAQ 10.0 1.0 - - 4240_1:156035812-156035812 C>T_DSRTTIGVEFSTCTVMLGTAAVKAQ 0.0 11:2417152-2417152 G>T 1.0 3466 MELANOMA - - - - CD81 ENST00000481687,p.K177N|NM_004356,p.K171N|ENST00000492252,p.K164N|ENST00000381036,p.K209N|ENST00000527343,p.K160N|NM_001297649,p.K100N|ENST00000526072,p.K100N|ENST00000492627,p.K100N|ENST00000263645,p.K171N|uc001lwf.1,p.K171N retained_intron, protein_coding, processed_transcript uc001lwf.1 nonsynonymous SNV exon6 c.G513T p.K171N SSTLTALTTSVLKNNLCPSGSNIIS SSTLTALTTSVLNNNLCPSGSNIIS 10.0 7.0 - - 3466_11:2417152-2417152 G>T_SSTLTALTTSVLNNNLCPSGSNIIS 0.0 16:28331829-28331829 G>A 0.0 4346 COLORECTAL - - - - SBK1 ENST00000341901,p.A288T|NM_001024401,p.A288T|uc002dpd.3,p.A288T protein_coding uc002dpd.3 nonsynonymous SNV exon4 c.G862A p.A288T GLPSQWRRFTEPALRMFQRLLALEP GLPSQWRRFTEPTLRMFQRLLALEP 3.0 1.0 - - 4346_16:28331829-28331829 G>A_GLPSQWRRFTEPTLRMFQRLLALEP 0.0 9:137716509-137716509 G>A 0.0 4213 COLORECTAL - - - - COL5A1 ENST00000371817,p.D1588N|uc004cfe.4,p.D1588N|NM_001278074,p.D1588N|uc031tfl.1,p.D1588N|NM_000093,p.D1588N retained_intron, protein_coding, processed_transcript uc031tfl.1 nonsynonymous SNV exon62 c.G4762A p.D1588N LPIQASRTRRNIDASQLLDDGNGEN LPIQASRTRRNINASQLLDDGNGEN 9.0 7.0 - - 4213_9:137716509-137716509 G>A_LPIQASRTRRNINASQLLDDGNGEN 0.0 7:151053265-151053265 A>C 1.0 4335 COLORECTAL - - - - NUB1 ENST00000566856,p.N217T|ENST00000413040,p.N241T|ENST00000568733,p.N241T|NM_001243351,p.N241T|NM_016118,p.N241T|uc003wjx.3,p.N241T|ENST00000355851,p.N217T|ENST00000468404,p.N217T|ENST00000483358,p.N217T|uc003wjw.4,p.N241T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003wjx.3 nonsynonymous SNV exon7 c.A722C p.N241T VDPEMTPYLDIANQTGRSIRIPPSE VDPEMTPYLDIATQTGRSIRIPPSE 10.0 4.0 - - 4335_7:151053265-151053265 A>C_VDPEMTPYLDIATQTGRSIRIPPSE 0.0 19:36034575-36034575 C>G 1.0 4046 OVARIAN - - - - GAPDHS ENST00000222286,p.T301R|NM_014364,p.T301R|uc002oaf.1,p.T301R protein_coding, nonsense_mediated_decay uc002oaf.1 nonsynonymous SNV exon9 c.C902G p.T301R VTKVIPELKGKLTGMAFRVPTPDVS VTKVIPELKGKLRGMAFRVPTPDVS 2.0 5.0 - - 4046_19:36034575-36034575 C>G_VTKVIPELKGKLRGMAFRVPTPDVS 0.0 10:15256479-15256479 C>A 1.0 4078 GASTRIC - - - - FAM171A1 NM_001010924,p.A370S|uc001iob.3,p.A370S|ENST00000378116,p.A370S protein_coding, processed_transcript uc001iob.3 nonsynonymous SNV exon8 c.G1108T p.A370S SMSHINLLFSRRASEFPGPLSVTSH SMSHINLLFSRRSSEFPGPLSVTSH 5.0 1.0 - - 4078_10:15256479-15256479 C>A_SMSHINLLFSRRSSEFPGPLSVTSH 0.0 1:156846244-156846244 A>C 0.0 4335 COLORECTAL - - - 1 NTRK1 ENST00000524377,p.E562A|ENST00000358660,p.E559A|ENST00000392302,p.E526A|ENST00000368196,p.E556A|NM_001012331,p.E556A|NM_001007792,p.E526A|uc009wsk.1,p.E559A|NM_002529,p.E562A|uc001fqi.1,p.E556A|uc009wsi.1,p.E261A|uc001fqh.1,p.E562A|uc001fqf.1,p.E526A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009wsk.1 nonsynonymous SNV exon13 c.A1676C p.E559A SESARQDFQREAELLTMLQHQHIVR SESARQDFQREAALLTMLQHQHIVR 5.0 4.0 - - 4335_1:156846244-156846244 A>C_SESARQDFQREAALLTMLQHQHIVR 0.0 3:129696006-129696006 C>T 0.0 4158 COLORECTAL 0.0014 - - - TRH NM_007117,p.R226W|ENST00000302649,p.R226W|uc003enc.4,p.R226W|ENST00000507066,p.R222W protein_coding uc003enc.4 nonsynonymous SNV exon3 c.C676T p.R226W DDLSRSQGAEEKRQHPGRRAAWVRE DDLSRSQGAEEKWQHPGRRAAWVRE 5.0 5.0 - - 4158_3:129696006-129696006 C>T_DDLSRSQGAEEKWQHPGRRAAWVRE 0.0 19:54403680-54403680 G>A 0.0 4246 COLORECTAL - - ID=COSM1000933,COSM1000934;OCCURENCE=1(endometrium) - PRKCG uc002qcq.1,p.A461T|uc010yeh.1,p.A348T|ENST00000540413,p.A461T|ENST00000263431,p.A461T|NM_002739,p.A461T|ENST00000542049,p.A348T|uc010yeg.1,p.A461T protein_coding uc010yeh.1 nonsynonymous SNV exon11 c.G1042A p.A348T LGKFKEPHAAFYAAEIAIGLFFLHN LGKFKEPHAAFYTAEIAIGLFFLHN 1.0 5.0 - - 4246_19:54403680-54403680 G>A_LGKFKEPHAAFYTAEIAIGLFFLHN 0.0 6:153345480-153345480 T>G 0.0 4346 COLORECTAL - - - - RGS17 uc003qpm.3,p.K121Q|ENST00000206262,p.K121Q|ENST00000367225,p.K121Q|NM_012419,p.K121Q protein_coding uc003qpm.3 nonsynonymous SNV exon4 c.A361C p.K121Q ENLLFWLACEDLKKEQNKKVIEEKA ENLLFWLACEDLQKEQNKKVIEEKA 1.0 3.0 - - 4346_6:153345480-153345480 T>G_ENLLFWLACEDLQKEQNKKVIEEKA 0.0 X:122551780-122551780 A>T 0.0 4160 COLORECTAL - - - - GRIA3 uc011muf.1,p.L660F|ENST00000541091,p.L660F protein_coding, processed_transcript uc011muf.1 nonsynonymous SNV exon11 c.A1980T p.L660F SNDRLSSSHCVCLCP SNDRLSSSHCVCFCP 2.0 6.0 - - 4160_X:122551780-122551780 A>T_SNDRLSSSHCVCFCP 0.0 8:146068129-146068129 T>G 1.0 4245 COLORECTAL - - - - ZNF7 ENST00000446747,p.V557G|NM_001282795,p.V557G|uc003zek.4,p.V450G|ENST00000528372,p.V546G|uc003zeg.4,p.V546G|NM_001282797,p.V450G|ENST00000544249,p.V450G|uc011lln.2,p.V450G|uc010mge.3,p.V557G|ENST00000325241,p.V546G|NM_003416,p.V546G retained_intron, protein_coding, processed_transcript uc011lln.2 nonsynonymous SNV exon4 c.T1349G p.V450G FSMSTQLTIHQRVHTGERPYKCNEC FSMSTQLTIHQRGHTGERPYKCNEC 9.0 3.0 - - 4245_8:146068129-146068129 T>G_FSMSTQLTIHQRGHTGERPYKCNEC 0.0 3:194365391-194365391 T>C 1.0 4320 COLORECTAL - - - - LSG1 ENST00000265245,p.M570V|NM_018385,p.M570V|uc003fui.3,p.M570V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003fui.3 nonsynonymous SNV exon13 c.A1708G p.M570V FQHQHQRLLENKMNSDEIKMQLGRN FQHQHQRLLENKVNSDEIKMQLGRN 9.0 8.0 - - 4320_3:194365391-194365391 T>C_FQHQHQRLLENKVNSDEIKMQLGRN 0.0 4:173150896-173150896 G>T 0.0 4266 COLORECTAL - - - - GALNTL6 uc003isv.3,p.Q76H|ENST00000508122,p.Q59H|NM_001034845,p.Q76H|ENST00000506823,p.Q76H protein_coding, processed_transcript uc003isv.3 nonsynonymous SNV exon3 c.G228T p.Q76H LRRKDWHDYESIQKEAMRSGKGEHG LRRKDWHDYESIHKEAMRSGKGEHG 1.0 6.0 - - 4266_4:173150896-173150896 G>T_LRRKDWHDYESIHKEAMRSGKGEHG 0.0 8:89209493-89209493 T>C 0.0 4284 COLORECTAL - - - - MMP16 NM_005941,p.R59G|ENST00000286614,p.R59G|ENST00000522726,p.R76G|uc003yeb.4,p.R59G retained_intron, protein_coding, processed_transcript uc003yeb.4 nonsynonymous SNV exon2 c.A175G p.R59G LQKYGYLPPTDPRMSVLRSAETMQS LQKYGYLPPTDPGMSVLRSAETMQS 5.0 4.0 - - 4284_8:89209493-89209493 T>C_LQKYGYLPPTDPGMSVLRSAETMQS 0.0 16:84229837-84229837 G>A 1.0 4284 COLORECTAL - - ID=COSM1128852;OCCURENCE=1(prostate) - ADAD2 uc002fhr.2,p.A463T|ENST00000315906,p.A463T|uc002fhq.2,p.A545T|NM_001145400,p.A463T|NM_139174,p.A545T|ENST00000268624,p.A545T retained_intron, protein_coding, processed_transcript uc002fhr.2 nonsynonymous SNV exon8 c.G1387A p.A463T LGPCLPPPYVRTALHLFAGPPVAPS LGPCLPPPYVRTTLHLFAGPPVAPS 4.0 8.0 - - 4284_16:84229837-84229837 G>A_LGPCLPPPYVRTTLHLFAGPPVAPS 0.0 7:101845237-101845237 C>T 1.0 3713 MELANOMA - - - 1 CUX1 ENST00000550008,p.S831F|ENST00000292535,p.S887F|NM_181552,p.S887F|uc003uys.4,p.S898F|ENST00000360264,p.S898F|ENST00000549414,p.S865F|uc003uyx.4,p.S887F|ENST00000546411,p.S785F|ENST00000556210,p.S729F|NM_001202543,p.S898F retained_intron, protein_coding, processed_transcript uc003uyx.4 nonsynonymous SNV exon18 c.C2660T p.S887F SSEYWKEWPSAESPYSQSSELSLTG SSEYWKEWPSAEFPYSQSSELSLTG 8.0 8.0 - - 3713_7:101845237-101845237 C>T_SSEYWKEWPSAEFPYSQSSELSLTG 0.0 9:125084859-125084859 G>T 1.0 4287 COLORECTAL - - - - MRRF NM_001173512,p.R199M|ENST00000373729,p.R207M|uc011lyr.2,p.R199M|ENST00000344641,p.R251M|uc010mwa.3,p.R251M|ENST00000297908,p.R199M|NM_138777,p.R251M protein_coding, nonsense_mediated_decay uc011lyr.2 nonsynonymous SNV exon6 c.G596T p.R199M SQMADDTVAELDRHLAVKTKELLG SQMADDTVAELDMHLAVKTKELLG 10.0 5.0 CD8 - 4287_9:125084859-125084859 G>T_SQMADDTVAELDMHLAVKTKELLG 1.0 17:26902259-26902259 C>T 0.0 4081 COLORECTAL - - - - ALDOC ENST00000578590,p.R69H|ENST00000581807,p.R30H|uc002hbp.3,p.R69H|ENST00000460201,p.R69H|ENST00000395321,p.R69H|NM_005165,p.R69H|ENST00000584086,p.R69H|ENST00000226253,p.R69H|ENST00000395319,p.R69H|ENST00000435638,p.R69H retained_intron, protein_coding uc002hbp.3 nonsynonymous SNV exon3 c.G206A p.R69H RLYRQVLFSADDRVKKCIGGVIFFH RLYRQVLFSADDHVKKCIGGVIFFH 7.0 4.0 CD8 - 4081_17:26902259-26902259 C>T_RLYRQVLFSADDHVKKCIGGVIFFH 1.0 12:109605753-109605753 G>A 0.0 4235 COLORECTAL - - - - ACACB ENST00000377854,p.R280H|NM_001093,p.R280H|uc001tob.3,p.R280H|ENST00000377848,p.R280H|uc001toc.3,p.R280H|ENST00000544726,p.R78H|ENST00000338432,p.R280H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001toc.3 nonsynonymous SNV exon3 c.G839A p.R280H NGIAAVKCMRSIRRWAYEMFRNERA NGIAAVKCMRSIHRWAYEMFRNERA 8.0 10.0 - - 4235_12:109605753-109605753 G>A_NGIAAVKCMRSIHRWAYEMFRNERA 0.0 1:33764612-33764612 T>G 0.0 4320 COLORECTAL - - - - ZNF362 NM_152493,p.S410A|ENST00000373428,p.S410A|uc001bxc.1,p.S410A|ENST00000539719,p.S410A protein_coding, processed_transcript uc001bxc.1 nonsynonymous SNV exon9 c.T1228G p.S410A HLVSHHSPQRTESPGIPVRISLI HLVSHHSPQRTEAPGIPVRISLI 7.0 3.0 - - 4320_1:33764612-33764612 T>G_HLVSHHSPQRTEAPGIPVRISLI 0.0 11:6662587-6662587 G>C 0.0 4246 COLORECTAL - - - - DCHS1 uc001mem.1,p.S86R|NM_003737,p.S86R|ENST00000299441,p.S86R protein_coding uc001mem.1 nonsynonymous SNV exon2 c.C258G p.S86R APLMYFISAQEGSGVGTDLAIDEHS APLMYFISAQEGRGVGTDLAIDEHS 4.0 4.0 - - 4246_11:6662587-6662587 G>C_APLMYFISAQEGRGVGTDLAIDEHS 0.0 11:92577568-92577568 A>C 0.0 4213 COLORECTAL - - - 2 FAT3 NM_001008781,p.T3679P|ENST00000298047,p.T3679P|ENST00000533797,p.T14P|ENST00000409404,p.T3679P|uc001pdi.4,p.T119P|uc001pdj.4,p.T3679P|ENST00000525166,p.T3529P retained_intron, protein_coding, processed_transcript uc001pdj.4 nonsynonymous SNV exon18 c.A11035C p.T3679P HGFRRTLRNAVLTQKQDSLRIISIQ HGFRRTLRNAVLPQKQDSLRIISIQ 4.0 4.0 - - 4213_11:92577568-92577568 A>C_HGFRRTLRNAVLPQKQDSLRIISIQ 0.0 20:15412056-15412056 C>T 1.0 2556 MELANOMA - - - - MACROD2 ENST00000310348,p.P183S|ENST00000217246,p.P183S|NM_080676,p.P183S|uc002wou.3,p.P183S|uc002wot.3,p.P183S protein_coding, processed_transcript uc002wou.3 nonsynonymous SNV exon7 c.C547T p.P183S LVKENNIRSVAFPCISTGIYGFPNE LVKENNIRSVAFSCISTGIYGFPNE 5.0 6.0 - - 2556_20:15412056-15412056 C>T_LVKENNIRSVAFSCISTGIYGFPNE 0.0 19:51984835-51984835 C>T 0.0 4259 COLORECTAL - - - - CEACAM18 uc002pwv.1,p.R258C|ENST00000396477,p.R197C|NM_001278392,p.R197C|ENST00000451626,p.R258C protein_coding uc002pwv.1 nonsynonymous SNV exon4 c.C772T p.R258C PDGKTLVILRVSRYDRTIQCMIESF PDGKTLVILRVSCYDRTIQCMIESF 6.0 9.0 - - 4259_19:51984835-51984835 C>T_PDGKTLVILRVSCYDRTIQCMIESF 0.0 17:48272838-48272838 C>T 1.0 3713 MELANOMA - - - 1 COL1A1 NM_000088,p.G386E|ENST00000225964,p.G386E|uc002iqm.3,p.G386E retained_intron, protein_coding uc002iqm.3 nonsynonymous SNV exon18 c.G1157A p.G386E GPPGPAGAAGPAGNPGADGQPGAKG GPPGPAGAAGPAENPGADGQPGAKG 10.0 3.0 - - 3713_17:48272838-48272838 C>T_GPPGPAGAAGPAENPGADGQPGAKG 0.0 7:44047357-44047357 G>A 0.0 4245 COLORECTAL - rs62458722 - - SPDYE1 ENST00000258704,p.R334H|NM_175064,p.R334H|uc003tjf.3,p.R334H protein_coding uc003tjf.3 nonsynonymous SNV exon6 c.G1001A p.R334H DPEHWVWARDRARLS DPEHWVWARDRAHLS 2.0 6.0 - - 4245_7:44047357-44047357 G>A_DPEHWVWARDRAHLS 0.0 8:135490781-135490781 C>T 1.0 3784 MELANOMA - - - - ZFAT uc010mej.3,p.E1164K|NM_001289394,p.E1214K|uc010meh.3,p.E1128K|NM_001167583,p.E1214K|NM_001029939,p.E1214K|uc003yup.3,p.E1226K|uc003yuq.3,p.E1214K|ENST00000520356,p.E1128K|ENST00000521673,p.E146K|ENST00000520214,p.E1214K|uc003yun.3,p.E1214K|ENST00000523399,p.E1164K|ENST00000377838,p.E1226K|NM_001174157,p.E1164K|NM_001174158,p.E1128K|ENST00000520727,p.E1214K|NM_020863,p.E1226K|uc011ljj.2,p.E345K|uc003yuo.3,p.E1214K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011ljj.2 nonsynonymous SNV exon6 c.G1033A p.E345K GGEASEFIVYVQEAMQPVEEQAVEQ GGEASEFIVYVQKAMQPVEEQAVEQ 6.0 3.0 - - 3784_8:135490781-135490781 C>T_GGEASEFIVYVQKAMQPVEEQAVEQ 0.0 12:112630923-112630923 G>A 1.0 3998 MELANOMA - - - - HECTD4 NM_001109662,p.P2876S|ENST00000377560,p.P2838S|ENST00000430131,p.P2588S|ENST00000550722,p.P2864S|uc021reb.1,p.P2876S retained_intron, protein_coding, processed_transcript uc021reb.1 nonsynonymous SNV exon58 c.C8626T p.P2876S ISESKVNMDVNFPGAAFVVVSCKES ISESKVNMDVNFSGAAFVVVSCKES 9.0 5.0 - - 3998_12:112630923-112630923 G>A_ISESKVNMDVNFSGAAFVVVSCKES 0.0 7:75192367-75192367 A>C 0.0 4246 COLORECTAL - - - 1 HIP1 uc003uds.2,p.F298V|ENST00000434438,p.F298V|uc011kfz.2,p.F298V|NM_001243198,p.F298V|ENST00000336926,p.F298V|NM_005338,p.F298V retained_intron, protein_coding, processed_transcript uc011kfz.2 nonsynonymous SNV exon11 c.T892G p.F298V IQIPQLPENPPNFLRASALSEHISP IQIPQLPENPPNVLRASALSEHISP 7.0 5.0 - - 4246_7:75192367-75192367 A>C_IQIPQLPENPPNVLRASALSEHISP 0.0 3:48611721-48611721 C>T 0.0 3919 MELANOMA - - - - COL7A1 ENST00000328333,p.G2159S|NM_000094,p.G2159S|ENST00000454817,p.G2127S|uc003ctz.2,p.G2159S retained_intron, protein_coding, processed_transcript uc003ctz.2 nonsynonymous SNV exon79 c.G6475A p.G2159S GQDGNPGLPGERGMAGPEGKPGLQG GQDGNPGLPGERSMAGPEGKPGLQG 3.0 5.0 - - 3919_3:48611721-48611721 C>T_GQDGNPGLPGERSMAGPEGKPGLQG 0.0 12:56428757-56428757 ->TGCGGGG 0.0 4266 COLORECTAL - - - - IKZF4 uc001sjb.1,p.V467fs|ENST00000547791,p.V422fs|uc009zoi.1,p.V422fs|NM_022465,p.V467fs|ENST00000431367,p.V365fs|uc010sqa.1,p.V420fs|ENST00000547167,p.V467fs|ENST00000262032,p.V467fs|uc001sjc.1,p.V467fs|uc001sjd.1,p.V365fs|uc001sje.1,p.V426fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010sqa.1 frameshift insertion exon7 c.1259_1260insTGCGGGG p.V420fs DSTDTESNHEDRVAGVVSLPQGPPP DSTDTESNHEDRVAGCGGGIPPSGSPTPATSHHCGGPAQSCLRQRGPQATGGVIAGHPRPLQGSASGGGREW 4.0 5.0 - - 4266_12:56428757-56428757 ->TGCGGGG_DSTDTESNHEDRVAGCGGGIPPSGSPTPATSHHCGGPAQSCLRQRGPQATGGVIAGHPRPLQGSASGGGREW 0.0 8:77767640-77767640 G>A 0.0 4301 MELANOMA - - - - ZFHX4 ENST00000518282,p.G2802E|uc003yaw.1,p.G2783E|ENST00000521891,p.G2828E|ENST00000455469,p.G2783E|uc003yau.2,p.G2828E|NM_024721,p.G2828E|ENST00000050961,p.G2783E retained_intron, protein_coding, nonsense_mediated_decay uc003yaw.1 nonsynonymous SNV exon9 c.G8348A p.G2783E GDEGNTEMESTTGSSGDVKPALSPK GDEGNTEMESTTESSGDVKPALSPK 5.0 9.0 - - 4301_8:77767640-77767640 G>A_GDEGNTEMESTTESSGDVKPALSPK 0.0 8:70553043-70553043 G>A 1.0 3466 MELANOMA - - - - SULF1 uc010lza.1,p.G851E|uc003xyd.2,p.G851E|ENST00000402687,p.G851E|NM_015170,p.G851E|uc003xyg.2,p.G851E|ENST00000458141,p.G851E|uc003xyf.2,p.G851E|ENST00000419716,p.G851E|NM_001128204,p.G851E|uc003xye.2,p.G851E|NM_001128206,p.G851E|NM_001128205,p.G851E|ENST00000260128,p.G851E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010lza.1 nonsynonymous SNV exon22 c.G2552A p.G851E KQCNPRPKNLDVGNKDGGSYDLHRG KQCNPRPKNLDVENKDGGSYDLHRG 10.0 9.0 - - 3466_8:70553043-70553043 G>A_KQCNPRPKNLDVENKDGGSYDLHRG 0.0 1:36031058-36031058 C>T 1.0 3713 MELANOMA - - - - NCDN ENST00000373253,p.R645C|ENST00000356090,p.R662C|NM_001014839,p.R662C|NM_001014841,p.R645C|NM_014284,p.R662C|ENST00000373243,p.R662C|uc001bzb.3,p.R662C|uc001bza.3,p.R662C|uc001bzc.3,p.R645C protein_coding, processed_transcript uc001bzc.3 nonsynonymous SNV exon7 c.C1933T p.R645C LLPWLAPAALRSRWPQELLQLLGSV LLPWLAPAALRSCWPQELLQLLGSV 9.0 7.0 - - 3713_1:36031058-36031058 C>T_LLPWLAPAALRSCWPQELLQLLGSV 0.0 9:5968768-5968768 G>A 1.0 3879 MELANOMA - - - - KIAA2026 uc003zjq.4,p.P488L|ENST00000513355,p.P421L|NM_001017969,p.P488L|ENST00000381461,p.P488L|ENST00000399933,p.P488L protein_coding, processed_transcript, nonsense_mediated_decay uc003zjq.4 nonsynonymous SNV exon3 c.C1463T p.P488L FCGADVRIYKQRPFQAPEFPIPPIK FCGADVRIYKQRLFQAPEFPIPPIK 8.0 6.0 - - 3879_9:5968768-5968768 G>A_FCGADVRIYKQRLFQAPEFPIPPIK 0.0 16:58616794-58616794 G>A 1.0 2359 MELANOMA - - - - CNOT1 NM_001265612,p.P316L|uc002enx.4,p.P316L|uc002env.4,p.P316L|uc002enu.5,p.P316L|ENST00000567188,p.P316L|NM_016284,p.P316L|NM_206999,p.P316L|ENST00000441024,p.P316L|ENST00000317147,p.P316L|ENST00000569240,p.P316L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002enx.4 nonsynonymous SNV exon10 c.C947T p.P316L LTDGIPLQSISAPGSGIWSDGKDKS LTDGIPLQSISALGSGIWSDGKDKS 10.0 7.0 - - 2359_16:58616794-58616794 G>A_LTDGIPLQSISALGSGIWSDGKDKS 0.0 5:158588338-158588338 G>A 1.0 3713 MELANOMA - - - - RNF145 uc010jiq.2,p.S551L|NM_001199380,p.S551L|uc003lxp.3,p.S521L|NM_001199383,p.S521L|ENST00000521606,p.S538L|NM_144726,p.S549L|ENST00000520638,p.S535L|ENST00000518802,p.S551L|uc011ddy.2,p.S535L|NM_001199381,p.S538L|ENST00000424310,p.S521L|uc003lxo.2,p.S549L|ENST00000274542,p.S549L|uc011ddz.2,p.S538L|NM_001199382,p.S535L|ENST00000519865,p.S521L retained_intron, protein_coding, processed_transcript uc011ddz.2 nonsynonymous SNV exon10 c.C1613T p.S538L FLLRRDAVNKIKSLPIATKEQLEKH FLLRRDAVNKIKLLPIATKEQLEKH 10.0 5.0 - - 3713_5:158588338-158588338 G>A_FLLRRDAVNKIKLLPIATKEQLEKH 0.0 12:95461111-95461111 C>T 1.0 4244 COLORECTAL - - - - NR2C1 NM_003297,p.G17E|uc001tdn.4,p.G17E|ENST00000333003,p.G17E|ENST00000330677,p.G17E|ENST00000393101,p.G17E|uc010suu.1,p.G17E|NM_001032287,p.G17E|uc001tdm.5,p.G17E|uc001tdo.4,p.G17E|NM_001127362,p.G17E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010suu.1 nonsynonymous SNV exon1 c.G50A p.G17E EEIAHQIIEQQMGEIVTEQQTGQKI EEIAHQIIEQQMEEIVTEQQTGQKI 9.0 6.0 - - 4244_12:95461111-95461111 C>T_EEIAHQIIEQQMEEIVTEQQTGQKI 0.0 17:42476350-42476350 C>T 1.0 4275 COLORECTAL - - - - GPATCH8 NM_001002909,p.R1032H|uc002igw.2,p.R1032H|uc002igv.2,p.R954H|uc010wiz.2,p.R954H|ENST00000591680,p.R1032H|ENST00000434000,p.R954H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wiz.2 nonsynonymous SNV exon9 c.G2861A p.R954H SGRRDFIRSKIYRSQSPHYFRSGRG SGRRDFIRSKIYHSQSPHYFRSGRG 10.0 5.0 CD8 - 4275_17:42476350-42476350 C>T_SGRRDFIRSKIYHSQSPHYFRSGRG 1.0 6:132910728-132910728 A>C 0.0 4110 BILE DUCT - - - - TAAR5 NM_003967,p.I33S|uc003qdk.2,p.I33S|ENST00000258034,p.I33S protein_coding uc003qdk.2 nonsynonymous SNV exon1 c.T98G p.I33S NGSCPRTVHTLGIQLVIYLACAAGM NGSCPRTVHTLGSQLVIYLACAAGM 1.0 9.0 - - 4110_6:132910728-132910728 A>C_NGSCPRTVHTLGSQLVIYLACAAGM 0.0 1:111737203-111737203 A>G 1.0 4320 COLORECTAL - - - - DENND2D NM_024901,p.L264P|ENST00000357640,p.L264P|NM_001271833,p.L261P|uc001eal.2,p.L261P|ENST00000369752,p.L261P|uc001eak.2,p.L264P protein_coding, processed_transcript uc001eal.2 nonsynonymous SNV exon7 c.T782C p.L261P VLERKIIFLAEGLSTLSQCIHAAAA VLERKIIFLAEGPSTLSQCIHAAAA 7.0 6.0 CD8 - 4320_1:111737203-111737203 A>G_VLERKIIFLAEGPSTLSQCIHAAAA 1.0 5:16703173-16703173 C>A 1.0 4317 COLORECTAL - - - - MYO10 uc011cne.2,p.A148S|uc011cnd.2,p.A148S|uc010itx.3,p.A414S|ENST00000515803,p.A130S|ENST00000513610,p.A791S|ENST00000513882,p.A802S|ENST00000274203,p.A148S|uc003jft.4,p.A791S|NM_012334,p.A791S|ENST00000427430,p.A148S|ENST00000505695,p.A130S retained_intron, protein_coding, processed_transcript uc011cne.2 nonsynonymous SNV exon5 c.G442T p.A148S FLLRRRFLHLKKAAIVFQKQLRGQI FLLRRRFLHLKKSAIVFQKQLRGQI 10.0 7.0 - - 4317_5:16703173-16703173 C>A_FLLRRRFLHLKKSAIVFQKQLRGQI 0.0 12:49742869-49742869 G>A 1.0 3713 MELANOMA - - - - DNAJC22 uc001rua.3,p.V72M|NM_024902,p.V72M|ENST00000549441,p.V72M|ENST00000395069,p.V72M|uc001rub.3,p.V72M retained_intron, protein_coding, processed_transcript uc001rub.3 nonsynonymous SNV exon3 c.G214A p.V72M NRAQGQRQSPRGVTPPLSPIRFAAQ NRAQGQRQSPRGMTPPLSPIRFAAQ 2.0 4.0 - - 3713_12:49742869-49742869 G>A_NRAQGQRQSPRGMTPPLSPIRFAAQ 0.0 6:53761323-53761326 GAGA>- 1.0 4237 NSCLC - - - - LRRC1 ENST00000487251,p.L158fs|NM_018214,p.L158fs|uc003pcd.1,p.L158fs|ENST00000370888,p.L158fs protein_coding, processed_transcript, nonsense_mediated_decay uc003pcd.1 frameshift deletion exon5 c.474_477del p.L158fs NIGNLYNLASLELRENLLTYLPDSLT NIGNLYNLASLELRIFLHIFLTLLPSCED 7.0 9.0 - - 4237_6:53761323-53761326 GAGA>-_NIGNLYNLASLELRIFLHIFLTLLPSCED 0.0 20:40117133-40117133 C>G 1.0 4240 BREAST - - - - CHD6 ENST00000373233,p.D598H|uc002xka.1,p.D598H|uc002xkd.2,p.D576H|NM_032221,p.D598H protein_coding, processed_transcript uc002xkd.2 nonsynonymous SNV exon12 c.G1726C p.D576H ELKKIHWSCVIIDEAHRLKNRNCKL ELKKIHWSCVIIHEAHRLKNRNCKL 10.0 9.0 - - 4240_20:40117133-40117133 C>G_ELKKIHWSCVIIHEAHRLKNRNCKL 0.0 19:9046046-9046046 A>T 0.0 4259 COLORECTAL - - - 2 MUC16 uc002mkp.3,p.I11862N|ENST00000397910,p.I11862N|NM_024690,p.I11862N protein_coding, processed_transcript, nonsense_mediated_decay uc002mkp.3 nonsynonymous SNV exon5 c.T35585A p.I11862N LSTHPGTETSTMIPTSTLSLGLLET LSTHPGTETSTMNPTSTLSLGLLET 4.0 9.0 - - 4259_19:9046046-9046046 A>T_LSTHPGTETSTMNPTSTLSLGLLET 0.0 11:67817178-67817178 A>G 1.0 4110 BILE DUCT - - - - TCIRG1 uc001one.3,p.I646V|NM_006053,p.I430V|NM_006019,p.I646V|ENST00000532635,p.I430V|uc001ong.3,p.I430V|ENST00000265686,p.I646V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001ong.3 nonsynonymous SNV exon11 c.A1288G p.I430V ATLVVLALAMVPILLLGTPLHLLHR ATLVVLALAMVPVLLLGTPLHLLHR 9.0 6.0 - - 4110_11:67817178-67817178 A>G_ATLVVLALAMVPVLLLGTPLHLLHR 0.0 13:108518356-108518356 G>A 0.0 4316 COLORECTAL - - - - FAM155A NM_001080396,p.R197W|uc001vql.3,p.R197W|ENST00000375915,p.R197W protein_coding uc001vql.3 nonsynonymous SNV exon1 c.C589T p.R197W ENADAVCARNWSRGAAGGDGQEVRS ENADAVCARNWSWGAAGGDGQEVRS 4.0 8.0 - - 4316_13:108518356-108518356 G>A_ENADAVCARNWSWGAAGGDGQEVRS 0.0 16:67195814-67195816 CGC>- 1.0 4078 GASTRIC - - - - FBXL8 ENST00000517382,p.42_43del protein_coding, processed_transcript, nonsense_mediated_decay ENST00000517382 nonframeshift deletion exon2 c.126_128del p.42_43del RVCRAWAAAATCSAVWHDTKIRRPT RVCRAWAAAATCSVWHDTKIRRPTR 5.0 5.0 - - 4078_16:67195814-67195816 CGC>-_RVCRAWAAAATCSVWHDTKIRRPTR 0.0 7:143078702-143078702 C>T 1.0 4244 COLORECTAL - - - - ZYX uc011kte.2,p.S13L|ENST00000322764,p.S13L|NM_001010972,p.S13L|NM_003461,p.S13L|uc003wcw.3,p.S13L|ENST00000457235,p.S13L|uc003wcx.3,p.S13L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011kte.2 nonsynonymous SNV exon1 c.C38T p.S13L MAAPRPSPAISVSVSAPAFYAPQKK MAAPRPSPAISVLVSAPAFYAPQKK 10.0 1.0 - - 4244_7:143078702-143078702 C>T_MAAPRPSPAISVLVSAPAFYAPQKK 0.0 15:43892290-43892290 T>C 0.0 4237 NSCLC - - - - STRC uc001zsf.3,p.I1703V|ENST00000450892,p.I1703V|ENST00000541030,p.I930V|uc010bdl.3,p.I930V|uc001zse.3,p.I221V|NM_153700,p.I1703V retained_intron, protein_coding, nonsense_mediated_decay uc010bdl.3 nonsynonymous SNV exon27 c.A2788G p.I930V IPPPKFAVVFSPIQLSSLTSAQAVA IPPPKFAVVFSPVQLSSLTSAQAVA 4.0 7.0 - - 4237_15:43892290-43892290 T>C_IPPPKFAVVFSPVQLSSLTSAQAVA 0.0 15:40750818-40750818 G>A 1.0 4186 BREAST - - - - BAHD1 NM_014952,p.R52H|uc001zlu.2,p.R52H|uc010bbp.1,p.R52H|NM_001301132,p.R52H|ENST00000416165,p.R52H|ENST00000561234,p.R52H|uc001zlv.2,p.R52H|ENST00000560846,p.R52H|uc001zlt.2,p.R52H retained_intron, protein_coding uc010bbp.1 nonsynonymous SNV exon2 c.G155A p.R52H GMPESPGHLTGRRKNYPLRKRPLVP GMPESPGHLTGRHKNYPLRKRPLVP 5.0 6.0 - - 4186_15:40750818-40750818 G>A_GMPESPGHLTGRHKNYPLRKRPLVP 0.0 11:72468901-72468901 C>T 1.0 4252 COLORECTAL - - ID=COSM1475880;OCCURENCE=1(breast) - STARD10 uc001otb.3,p.R163Q|ENST00000543304,p.R163Q|ENST00000537351,p.R70Q|ENST00000334805,p.R163Q|ENST00000545082,p.R134Q|ENST00000538536,p.R117Q|ENST00000536728,p.R94Q|NM_006645,p.R163Q|ENST00000537947,p.R163Q|uc001osz.4,p.R163Q|uc001ota.3,p.R117Q|ENST00000542989,p.R163Q|ENST00000544767,p.R94Q|uc001osy.3,p.R163Q retained_intron, protein_coding, processed_transcript, TEC uc001otb.3 nonsynonymous SNV exon5 c.G488A p.R163Q KHPKYPPRKDLVRAVSIQTGYLIQS KHPKYPPRKDLVQAVSIQTGYLIQS 10.0 8.0 - - 4252_11:72468901-72468901 C>T_KHPKYPPRKDLVQAVSIQTGYLIQS 0.0 20:50406698-50406698 C>T 0.0 4301 MELANOMA - - - 1 SALL4 uc002xwh.4,p.R775Q|ENST00000217086,p.R775Q|NM_020436,p.R775Q protein_coding, processed_transcript uc002xwh.4 nonsynonymous SNV exon2 c.G2324A p.R775Q SSSLMGDQEYQSRSPDILETTSFQA SSSLMGDQEYQSQSPDILETTSFQA 5.0 6.0 - - 4301_20:50406698-50406698 C>T_SSSLMGDQEYQSQSPDILETTSFQA 0.0 12:71029509-71029509 C>T 1.0 3713 MELANOMA - - - 1 PTPRB ENST00000551525,p.M130I|uc001swc.4,p.M131I|ENST00000550358,p.M131I|ENST00000334414,p.M131I|uc001swd.4,p.M130I|NM_001109754,p.M131I|uc001swa.4,p.M131I|uc001swe.3,p.M131I retained_intron, protein_coding, processed_transcript uc001swe.3 nonsynonymous SNV exon2 c.G393A p.M131I VVKKARKYLHSWMKIDVNKEGKLVN VVKKARKYLHSWIKIDVNKEGKLVN 2.0 6.0 - - 3713_12:71029509-71029509 C>T_VVKKARKYLHSWIKIDVNKEGKLVN 0.0 6:43190311-43190311 G>A 1.0 4244 COLORECTAL - - - - CUL9 uc010jyk.3,p.E1474K|ENST00000372647,p.E2294K|uc003ouk.3,p.E2322K|ENST00000252050,p.E2322K|uc003oun.3,p.E117K|ENST00000354495,p.E2212K|NM_015089,p.E2322K|uc003oul.3,p.E2294K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010jyk.3 nonsynonymous SNV exon36 c.G4420A p.E1474K AVNLRNRVSAIHEVPPPRSFTFLND AVNLRNRVSAIHKVPPPRSFTFLND 9.0 3.0 - - 4244_6:43190311-43190311 G>A_AVNLRNRVSAIHKVPPPRSFTFLND 0.0 2:120194523-120194523 G>A 0.0 4326 BREAST 0.0005 - - - TMEM37 ENST00000409826,p.R39Q|uc002tly.3,p.R27Q|ENST00000306406,p.R27Q|NM_183240,p.R27Q protein_coding, processed_transcript uc002tly.3 nonsynonymous SNV exon2 c.G80A p.R27Q RQPRRSFFESFIRTLIITCVALAVV RQPRRSFFESFIQTLIITCVALAVV 5.0 7.0 - - 4326_2:120194523-120194523 G>A_RQPRRSFFESFIQTLIITCVALAVV 0.0 2:231222552-231222552 G>A 1.0 3713 MELANOMA - - - - SP140L NM_138402,p.G47E|ENST00000243810,p.G47E|ENST00000415673,p.G47E|ENST00000444636,p.G47E|ENST00000396563,p.G47E|uc010fxm.1,p.G47E retained_intron, protein_coding uc010fxm.1 nonsynonymous SNV exon3 c.G140A p.G47E QRLFTEDQDVDEGLVYDTVFKHFKR QRLFTEDQDVDEELVYDTVFKHFKR 7.0 4.0 - - 3713_2:231222552-231222552 G>A_QRLFTEDQDVDEELVYDTVFKHFKR 0.0 X:69176881-69176881 C>T 0.0 2556 MELANOMA - - - - EDA ENST00000374553,p.A134V|uc004dxr.3,p.A134V|NM_001005612,p.A134V|NM_001005609,p.A134V|uc004dxs.3,p.A134V|uc004dxq.1,p.A134V|ENST00000374552,p.A134V|ENST00000524573,p.A134V|NM_001399,p.A134V|uc011mpj.2,p.A134V retained_intron, protein_coding, processed_transcript uc011mpj.2 nonsynonymous SNV exon2 c.C401T p.A134V ALHSDSQDGHQMALLNFFFPDEKPY ALHSDSQDGHQMVLLNFFFPDEKPY 3.0 8.0 - - 2556_X:69176881-69176881 C>T_ALHSDSQDGHQMVLLNFFFPDEKPY 0.0 1:33795685-33795685 T>C 1.0 3678 MELANOMA - - - - PHC2 ENST00000373416,p.D176G|NM_198040,p.D711G|uc001bxg.1,p.D711G|NM_004427,p.D176G|ENST00000257118,p.D711G|ENST00000373422,p.D317G|uc001bxh.1,p.D683G|ENST00000373418,p.D176G|uc001bxf.1,p.D126G|ENST00000419414,p.D712G|uc009vuh.1,p.D712G|ENST00000431992,p.D682G|uc001bxe.1,p.D176G protein_coding, processed_transcript uc009vuh.1 nonsynonymous SNV exon13 c.A2135G p.D712G RASKASLPPLTKDTKKQPTGTVPLS RASKASLPPLTKGTKKQPTGTVPLS 8.0 10.0 - - 3678_1:33795685-33795685 T>C_RASKASLPPLTKGTKKQPTGTVPLS 0.0 13:41705943-41705943 A>C 1.0 4298 COLORECTAL - - - - KBTBD6 uc001uxu.1,p.S235R|ENST00000379485,p.S235R|ENST00000499385,p.S169R|NM_152903,p.S235R protein_coding uc001uxu.1 nonsynonymous SNV exon1 c.T705G p.S235R LAVLRLDSLDVESEQTVCHVAVQWL LAVLRLDSLDVEREQTVCHVAVQWL 6.0 8.0 - - 4298_13:41705943-41705943 A>C_LAVLRLDSLDVEREQTVCHVAVQWL 0.0 11:125853928-125853928 G>A 1.0 3879 MELANOMA - - - - CDON ENST00000392693,p.S945F|uc009zbw.3,p.S945F|uc001qdb.4,p.S322F|NM_016952,p.S945F|ENST00000531738,p.S322F|NM_001243597,p.S945F|uc001qdc.4,p.S945F|ENST00000263577,p.S945F retained_intron, protein_coding, nonsense_mediated_decay uc009zbw.3 nonsynonymous SNV exon16 c.C2834T p.S945F EYPVKDLSTPPNSLGSGGNVGPATS EYPVKDLSTPPNFLGSGGNVGPATS 8.0 9.0 - - 3879_11:125853928-125853928 G>A_EYPVKDLSTPPNFLGSGGNVGPATS 0.0 16:75670354-75670354 G>- 1.0 4158 COLORECTAL - - - - KARS ENST00000319410,p.S188fs|ENST00000302445,p.S160fs|ENST00000570215,p.S188fs|uc002fer.3,p.S188fs|uc002feq.3,p.S160fs|NM_001130089,p.S188fs|NM_005548,p.S160fs retained_intron, protein_coding, nonsense_mediated_decay uc002fer.3 frameshift deletion exon5 c.564delC p.S188fs RGEGVKLQVMANSRNYKSEEEFIHI RGEGVKLQVMANSEIINQKKNLFILITNCVGET 10.0 8.0 - - 4158_16:75670354-75670354 G>-_RGEGVKLQVMANSEIINQKKNLFILITNCVGET 0.0 17:48273536-48273536 T>A 0.0 4287 COLORECTAL - - - 1 COL1A1 ENST00000225964,p.T328S|uc002iqm.3,p.T328S|NM_000088,p.T328S retained_intron, protein_coding uc002iqm.3 nonsynonymous SNV exon15 c.A982T p.T328S PGPAGARGNDGATGAAGPPGPTGPA PGPAGARGNDGASGAAGPPGPTGPA 10.0 8.0 - - 4287_17:48273536-48273536 T>A_PGPAGARGNDGASGAAGPPGPTGPA 0.0 10:100481584-100481584 C>A 0.0 4158 COLORECTAL - - - - HPSE2 uc009xwc.2,p.E262D|uc001kpn.2,p.E262D|NM_021828,p.E262D|ENST00000370552,p.E262D|ENST00000370546,p.E262D|NM_001166246,p.E262D protein_coding uc009xwc.2 nonsynonymous SNV exon5 c.G786T p.E262D SKKYNISWELGNEPNNYRTMHGRAV SKKYNISWELGNDPNNYRTMHGRAV 2.0 7.0 - - 4158_10:100481584-100481584 C>A_SKKYNISWELGNDPNNYRTMHGRAV 0.0 1:98060628-98060628 T>A 1.0 4129 NSCLC - - - - DPYD uc001drv.3,p.K315N|ENST00000370192,p.K315N|NM_000110,p.K315N protein_coding, processed_transcript uc001drv.3 nonsynonymous SNV exon9 c.A945T p.K315N FYTSKDFLPLVAKGSKAGMCACHSP FYTSKDFLPLVANGSKAGMCACHSP 6.0 7.0 - - 4129_1:98060628-98060628 T>A_FYTSKDFLPLVANGSKAGMCACHSP 0.0 2:33359928-33359928 G>T 0.0 4129 NSCLC - - ID=COSM1649796,COSM574849;OCCURENCE=1(lung) - LTBP1 ENST00000404816,p.G368C|uc021vft.1,p.G368C|uc010ymz.2,p.G42C|uc010yna.2,p.G42C|uc002rov.3,p.G42C|NM_000627,p.G42C|ENST00000418533,p.G42C|ENST00000404525,p.G42C|ENST00000354476,p.G368C|NM_206943,p.G368C|NM_001166264,p.G42C|ENST00000390003,p.G42C|NM_001166265,p.G42C|ENST00000407925,p.G42C|NM_001166266,p.G42C|ENST00000402934,p.G42C|uc002rou.3,p.G42C protein_coding, processed_transcript uc021vft.1 nonsynonymous SNV exon5 c.G1102T p.G368C FTPSICKVTCTKGSCQNSCEKGNTT FTPSICKVTCTKCSCQNSCEKGNTT 8.0 8.0 - - 4129_2:33359928-33359928 G>T_FTPSICKVTCTKCSCQNSCEKGNTT 0.0 3:112545978-112545978 C>T 0.0 4213 COLORECTAL - - - - CD200R1L ENST00000488794,p.A160T|uc010hqf.1,p.A160T|NM_001199215,p.A160T|ENST00000448932,p.A160T|uc003dzi.1,p.A181T|uc011bhw.1,p.A160T|ENST00000398214,p.A181T|NM_001008784,p.A181T protein_coding, nonsense_mediated_decay uc011bhw.1 nonsynonymous SNV exon6 c.G478A p.A160T AQISWIPEGSILATKQEYWGNGTVT AQISWIPEGSILTTKQEYWGNGTVT 4.0 3.0 - - 4213_3:112545978-112545978 C>T_AQISWIPEGSILTTKQEYWGNGTVT 0.0 15:62221898-62221898 T>A 0.0 3775 CERVICAL - - ID=COSM1727199,COSM1727200;OCCURENCE=1(liver) - VPS13C ENST00000395898,p.I1987L|uc002agz.3,p.I2030L|ENST00000261517,p.I2030L|NM_001018088,p.I2030L|ENST00000395896,p.I2030L|uc002aha.3,p.I1987L|NM_017684,p.I1987L|ENST00000249837,p.I1987L|NM_020821,p.I2030L|uc002ahb.2,p.I2030L|NM_018080,p.I1987L|uc002ahc.2,p.I1987L retained_intron, protein_coding, processed_transcript uc002ahc.2 nonsynonymous SNV exon49 c.A5959T p.I1987L KNDQDNNSSMIDISYKQDKNGSQID KNDQDNNSSMIDLSYKQDKNGSQID 9.0 3.0 - - 3775_15:62221898-62221898 T>A_KNDQDNNSSMIDLSYKQDKNGSQID 0.0 3:44607138-44607138 G>A 0.0 4158 COLORECTAL - - - - ZKSCAN7 ENST00000418719,p.G195R retained_intron, protein_coding, nonsense_mediated_decay ENST00000418719 nonsynonymous SNV exon3 c.G583A p.G195R PPYDPGTHHLPSGDFGYCGI PPYDPGTHHLPSRDFGYCGI 4.0 5.0 - - 4158_3:44607138-44607138 G>A_PPYDPGTHHLPSRDFGYCGI 0.0 7:107738946-107738946 C>A 0.0 4245 COLORECTAL - - - - LAMB4 ENST00000388781,p.G421V|ENST00000205386,p.G421V|uc010ljo.1,p.G421V|ENST00000388780,p.G421V|ENST00000418464,p.G421V|NM_007356,p.G421V|uc003vey.2,p.G421V|ENST00000414450,p.G421V retained_intron, protein_coding, processed_transcript uc010ljo.1 nonsynonymous SNV exon11 c.G1262T p.G421V VSHSDPALGSVAGQCLCKENVEGAK VSHSDPALGSVAVQCLCKENVEGAK 5.0 2.0 - - 4245_7:107738946-107738946 C>A_VSHSDPALGSVAVQCLCKENVEGAK 0.0 9:112969753-112969753 G>A 1.0 4317 COLORECTAL - - - - C9orf152 NM_001012993,p.P36L|ENST00000400613,p.P36L|uc011lwk.2,p.P36L protein_coding, processed_transcript uc011lwk.2 nonsynonymous SNV exon1 c.C107T p.P36L EGSRTQAPGKGPPLSIQFLRAQYEG EGSRTQAPGKGPLLSIQFLRAQYEG 5.0 7.0 - - 4317_9:112969753-112969753 G>A_EGSRTQAPGKGPLLSIQFLRAQYEG 0.0 19:6694620-6694621 CT>- 0.0 4240 BREAST - - - - C3 NM_000064,p.E992fs|ENST00000245907,p.E992fs|uc002mfm.3,p.E992fs retained_intron, protein_coding, processed_transcript uc002mfm.3 frameshift deletion exon24 c.2975_2976del p.E992fs ILLQGTPVAQMTEDAVDAERLKHLI ILLQGTPVAQMTGCRRRGTAEAPHCDPLGLRGTEHDRHDAHGHRCALPG 10.0 6.0 - - 4240_19:6694620-6694621 CT>-_ILLQGTPVAQMTGCRRRGTAEAPHCDPLGLRGTEHDRHDAHGHRCALPG 0.0 3:120371485-120371485 G>A 0.0 2591 MELANOMA - - - - HGD NM_000187,p.P99L|uc003edw.3,p.P99L|ENST00000283871,p.P99L|ENST00000476082,p.P58L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003edw.3 nonsynonymous SNV exon5 c.C296T p.P99L EVDPDPNQLRWKPFEIPKASQKKVD EVDPDPNQLRWKLFEIPKASQKKVD 2.0 8.0 - - 2591_3:120371485-120371485 G>A_EVDPDPNQLRWKLFEIPKASQKKVD 0.0 2:152727089-152727089 T>C 0.0 4245 COLORECTAL 0.0009 - - - CACNB4 ENST00000397327,p.M172V|uc002txz.3,p.M201V|NM_001005747,p.M185V|ENST00000360283,p.M186V|NM_001005746,p.M201V|NM_001145798,p.M219V|uc002txy.3,p.M185V|uc010fnz.3,p.M219V|ENST00000427385,p.M201V|ENST00000439467,p.M214V|uc002tyb.2,p.M185V|ENST00000534999,p.M185V|uc021vre.1,p.M185V|ENST00000539935,p.M219V|NM_000726,p.M219V|uc002tya.3,p.M219V|ENST00000201943,p.M219V retained_intron, protein_coding, processed_transcript uc021vre.1 nonsynonymous SNV exon7 c.A553G p.M185V TEHIPPYDVVPSMRPVVLVGPSLKG TEHIPPYDVVPSVRPVVLVGPSLKG 3.0 6.0 - - 4245_2:152727089-152727089 T>C_TEHIPPYDVVPSVRPVVLVGPSLKG 0.0 19:39062903-39062903 G>A 0.0 4329 COLORECTAL - - - - RYR1 ENST00000360985,p.C4659Y|ENST00000355481,p.C4659Y|uc002oit.3,p.C4664Y|ENST00000359596,p.C4664Y|NM_000540,p.C4664Y|uc002oiu.3,p.C4659Y|NM_001042723,p.C4659Y retained_intron, protein_coding, nonsense_mediated_decay uc002oiu.3 nonsynonymous SNV exon94 c.G13976A p.C4659Y TLVAFLCIIGYNCLKVPLVIFKREK TLVAFLCIIGYNYLKVPLVIFKREK 3.0 8.0 - - 4329_19:39062903-39062903 G>A_TLVAFLCIIGYNYLKVPLVIFKREK 0.0 14:24653026-24653026 C>T 1.0 4134 NSCLC - - - - IPO4 ENST00000354464,p.E650K|uc001wmz.2,p.E650K|uc001wmt.1,p.E128K|uc001wmv.1,p.E650K|uc001wmu.2,p.E312K|NM_024658,p.E650K|ENST00000560155,p.E650K|uc001wmy.1,p.E514K|uc001wmx.1,p.E514K retained_intron, protein_coding, nonsense_mediated_decay uc001wmz.2 nonsynonymous SNV exon20 c.G1948A p.E650K ESDGEEEEELMDEDVEEEDDSEISG ESDGEEEEELMDKDVEEEDDSEISG 8.0 6.0 - - 4134_14:24653026-24653026 C>T_ESDGEEEEELMDKDVEEEDDSEISG 0.0 3:14239588-14239588 T>C 1.0 3919 MELANOMA - - - - LSM3 ENST00000306024,p.L94P|NM_014463,p.L94P|uc003byn.3,p.L94P protein_coding uc003byn.3 nonsynonymous SNV exon4 c.T281C p.L94P IPMLFVRGDGVVLVAPPLRVG IPMLFVRGDGVVPVAPPLRVG 8.0 2.0 - - 3919_3:14239588-14239588 T>C_IPMLFVRGDGVVPVAPPLRVG 0.0 13:58206840-58206840 G>A 0.0 4245 COLORECTAL - - - - PCDH17 uc010aec.1,p.G54S|uc001vhq.1,p.G54S|ENST00000377918,p.G54S|NM_001040429,p.G54S|ENST00000484979,p.G54S protein_coding, nonsense_mediated_decay uc010aec.1 nonsynonymous SNV exon1 c.G160A p.G54S ARLQPGLPPAERGGGGRSKSGSYRV ARLQPGLPPAERSGGGRSKSGSYRV 7.0 8.0 - - 4245_13:58206840-58206840 G>A_ARLQPGLPPAERSGGGRSKSGSYRV 0.0 16:815187-815187 T>A 0.0 4320 COLORECTAL - - - - MSLN ENST00000563941,p.F196L|NM_013404,p.F196L|NM_005823,p.F196L|NM_001177355,p.F196L|ENST00000382862,p.F196L|uc002cjt.1,p.F196L|uc010brd.1,p.F195L|ENST00000563651,p.F196L|ENST00000566549,p.F196L|uc002cju.1,p.F196L|uc002cjw.2,p.F196L|ENST00000545450,p.F196L protein_coding uc010brd.1 nonsynonymous SNV exon8 c.T585A p.F195L ALGGLACDLPGRFVAESAEVLLPRL ALGGLACDLPGRLVAESAEVLLPRL 7.0 1.0 - - 4320_16:815187-815187 T>A_ALGGLACDLPGRLVAESAEVLLPRL 0.0 7:141618713-141618713 T>A 0.0 4278 COLORECTAL - - - - OR9A4 uc003vwu.1,p.L13H|ENST00000548136,p.L13H|NM_001001656,p.L13H protein_coding uc003vwu.1 nonsynonymous SNV exon1 c.T38A p.L13H MLMNYSSATEFYLLGFPGSEELHHI MLMNYSSATEFYHLGFPGSEELHHI 3.0 4.0 - - 4278_7:141618713-141618713 T>A_MLMNYSSATEFYHLGFPGSEELHHI 0.0 1:201780774-201780774 G>A 0.0 4317 COLORECTAL - - - - NAV1 ENST00000367297,p.R1606Q|ENST00000367300,p.R1554Q|NM_001167738,p.R1220Q|uc001gwx.3,p.R1220Q|NM_020443,p.R1614Q|ENST00000367296,p.R1614Q|ENST00000367295,p.R1220Q|uc021phi.1,p.R1614Q|ENST00000367302,p.R1567Q|ENST00000295624,p.R1611Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021phi.1 nonsynonymous SNV exon25 c.G4841A p.R1614Q QLYLSNLANQIDRETGIGDVPLVIL QLYLSNLANQIDQETGIGDVPLVIL 5.0 9.0 - - 4317_1:201780774-201780774 G>A_QLYLSNLANQIDQETGIGDVPLVIL 0.0 6:69703688-69703688 G>A 0.0 4149 OVARIAN - - ID=COSM230591;OCCURENCE=1(skin) - BAI3 uc003pev.4,p.R588Q|uc010kak.3,p.R588Q|NM_001704,p.R588Q|ENST00000370598,p.R588Q protein_coding uc010kak.3 nonsynonymous SNV exon10 c.G1763A p.R588Q QHSIKEHLAKGQRMLAGDGMSQVTK QHSIKEHLAKGQQMLAGDGMSQVTK 2.0 5.0 - - 4149_6:69703688-69703688 G>A_QHSIKEHLAKGQQMLAGDGMSQVTK 0.0 X:53561113-53561113 G>A 1.0 4287 COLORECTAL - - - - HUWE1 NM_031407,p.R4293C|ENST00000262854,p.R4293C|ENST00000342160,p.R4293C|uc004dsp.4,p.R4293C|uc004dsn.4,p.R3101C protein_coding, processed_transcript uc004dsp.4 nonsynonymous SNV exon83 c.C12877T p.R4293C FWRALRSFDQADRAKFLQFVTGTSK FWRALRSFDQADCAKFLQFVTGTSK 10.0 10.0 - - 4287_X:53561113-53561113 G>A_FWRALRSFDQADCAKFLQFVTGTSK 0.0 7:127670254-127670254 G>T 0.0 4095 COLORECTAL - - - - LRRC4 ENST00000494115,p.S65Y|uc003vmk.3,p.S147Y|NM_022143,p.S147Y|ENST00000249363,p.S147Y|uc022akv.1,p.S147Y protein_coding uc022akv.1 nonsynonymous SNV exon1 c.C440A p.S147Y LTVIPSGAFEYLSKLRELWLRNNPI LTVIPSGAFEYLYKLRELWLRNNPI 5.0 7.0 - - 4095_7:127670254-127670254 G>T_LTVIPSGAFEYLYKLRELWLRNNPI 0.0 12:51236839-51236839 T>G 0.0 4238 COLORECTAL - - - - TMPRSS12 uc001rwx.4,p.L31R|NM_182559,p.L31R|uc001rwy.3,p.L31R|ENST00000551456,p.L31R|ENST00000398458,p.L31R protein_coding uc001rwy.3 nonsynonymous SNV exon1 c.T92G p.L31R YSDHYSPSGRHRLGPSPEPAASSQQ YSDHYSPSGRHRRGPSPEPAASSQQ 1.0 1.0 - - 4238_12:51236839-51236839 T>G_YSDHYSPSGRHRRGPSPEPAASSQQ 0.0 2:196825422-196825422 G>A 0.0 2591 MELANOMA - - ID=COSM718707;OCCURENCE=1(lung) - DNAH7 ENST00000312428,p.P818L|uc002utj.4,p.P818L|NM_018897,p.P818L retained_intron, protein_coding, processed_transcript uc002utj.4 nonsynonymous SNV exon18 c.C2453T p.P818L GLYKLEKTFHDSPYALAMTKKVRSK GLYKLEKTFHDSLYALAMTKKVRSK 1.0 8.0 - - 2591_2:196825422-196825422 G>A_GLYKLEKTFHDSLYALAMTKKVRSK 0.0 13:106119440-106119440 T>G 0.0 3903 MELANOMA - - - - DAOA ENST00000601240,p.F28C|ENST00000375936,p.F28C|ENST00000489237,p.F28C|NM_172370,p.F28C|ENST00000473269,p.F28C|uc001vqb.3,p.F28C protein_coding, nonsense_mediated_decay uc001vqb.3 nonsynonymous SNV exon2 c.T83G p.F28C SRYTLGKIYFIGFQRSILLSKSENS SRYTLGKIYFIGCQRSILLSKSENS 1.0 3.0 - - 3903_13:106119440-106119440 T>G_SRYTLGKIYFIGCQRSILLSKSENS 0.0 5:89938763-89938763 A>C 0.0 4284 COLORECTAL - - - - GPR98 ENST00000405460,p.N820H|NM_032119,p.N820H|uc003kju.3,p.N820H retained_intron, protein_coding, processed_transcript uc003kju.3 nonsynonymous SNV exon13 c.A2458C p.N820H QFLHYRVEPRDSNEFYGNTGVLEFK QFLHYRVEPRDSHEFYGNTGVLEFK 6.0 1.0 - - 4284_5:89938763-89938763 A>C_QFLHYRVEPRDSHEFYGNTGVLEFK 0.0 2:48738537-48738537 A>T 1.0 4317 COLORECTAL - - - - PPP1R21 uc002rwk.3,p.H737L|uc002rwm.3,p.H748L|NM_001193475,p.H706L|ENST00000294952,p.H748L|uc010yok.2,p.H706L|NM_001135629,p.H748L|ENST00000281394,p.H737L|ENST00000449090,p.H706L|uc002rwl.3,p.H702L|NM_152994,p.H737L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010yok.2 nonsynonymous SNV exon19 c.A2117T p.H706L RSYEDQLSMMSDHLCSMNETLSKQR RSYEDQLSMMSDLLCSMNETLSKQR 7.0 1.0 - - 4317_2:48738537-48738537 A>T_RSYEDQLSMMSDLLCSMNETLSKQR 0.0 19:50832107-50832107 C>G 0.0 4326 BREAST - - - - KCNC3 NM_004977,p.G78A|ENST00000376959,p.G78A|ENST00000477616,p.G78A|uc002pru.1,p.G78A protein_coding uc002pru.1 nonsynonymous SNV exon1 c.G233C p.G78A AEPCPGLPAAAMGRHGGGGGDSGKI AEPCPGLPAAAMARHGGGGGDSGKI 6.0 3.0 - - 4326_19:50832107-50832107 C>G_AEPCPGLPAAAMARHGGGGGDSGKI 0.0 11:118925208-118925208 G>T 1.0 4244 COLORECTAL - - - - HYOU1 ENST00000404233,p.Q226K|uc001put.2,p.Q191K|ENST00000543287,p.Q139K|uc001puw.1,p.Q226K|uc010ryu.1,p.Q246K|uc001pux.3,p.Q226K|uc001puu.2,p.Q226K|NM_006389,p.Q226K|NM_001130991,p.Q226K|ENST00000529972,p.Q226K|ENST00000525859,p.Q226K|uc010ryv.1,p.Q115K|ENST00000530473,p.Q226K retained_intron, protein_coding, nonsense_mediated_decay uc010ryv.1 nonsynonymous SNV exon5 c.C343A p.Q115K GVFRRKDINTTAQNIMFYDMGSGST GVFRRKDINTTAKNIMFYDMGSGST 9.0 3.0 - - 4244_11:118925208-118925208 G>T_GVFRRKDINTTAKNIMFYDMGSGST 0.0 X:47308124-47308124 G>A 1.0 4000 MELANOMA - - - - ZNF41 uc004dhs.4,p.H391Y|uc004dhy.4,p.H349Y|NM_153380,p.H349Y|uc004dhx.4,p.H349Y|uc011mlm.2,p.H263Y|uc004dht.4,p.H263Y|ENST00000377065,p.H349Y|ENST00000397050,p.H359Y|ENST00000313116,p.H349Y|NM_007130,p.H349Y|uc004dhu.4,p.H383Y|uc004dhv.4,p.H359Y|uc004dhw.4,p.H351Y protein_coding, processed_transcript uc011mlm.2 nonsynonymous SNV exon4 c.C787T p.H263Y TLKSNLITHQKIHTGQKPYKCSECG TLKSNLITHQKIYTGQKPYKCSECG 7.0 10.0 - - 4000_X:47308124-47308124 G>A_TLKSNLITHQKIYTGQKPYKCSECG 0.0 6:33383075-33383075 T>G 1.0 4317 COLORECTAL - - - - PHF1 NM_024165,p.F435V|uc010jux.3,p.F235V|ENST00000374516,p.F435V|uc003oeh.3,p.F435V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010jux.3 nonsynonymous SNV exon12 c.T703G p.F235V PNQSYQGSSGYNFRPTDARCLPSSP PNQSYQGSSGYNVRPTDARCLPSSP 9.0 5.0 - - 4317_6:33383075-33383075 T>G_PNQSYQGSSGYNVRPTDARCLPSSP 0.0 17:57058377-57058377 C>G 0.0 4298 COLORECTAL - - - - PPM1E ENST00000308249,p.S751R|uc002iwx.4,p.S751R|NM_014906,p.S751R|uc010ddd.4,p.S514R protein_coding uc010ddd.4 nonsynonymous SNV exon6 c.C1542G p.S514R KTHDIPCPDLPWSYKIE KTHDIPCPDLPWRYKIE 3.0 5.0 - - 4298_17:57058377-57058377 C>G_KTHDIPCPDLPWRYKIE 0.0 18:52555297-52555297 G>A 1.0 3713 MELANOMA - - - - RAB27B ENST00000262094,p.D139N|uc002lfr.3,p.D139N|NM_004163,p.D139N protein_coding, processed_transcript uc002lfr.3 nonsynonymous SNV exon5 c.G415A p.D139N DIVLIGNKADLPDQREVNERQAREL DIVLIGNKADLPNQREVNERQAREL 1.0 7.0 - - 3713_18:52555297-52555297 G>A_DIVLIGNKADLPNQREVNERQAREL 0.0 7:87529601-87529601 C>T 1.0 3784 MELANOMA - - - - DBF4 ENST00000413643,p.P229S retained_intron, protein_coding, nonsense_mediated_decay ENST00000413643 nonsynonymous SNV exon9 c.C685T p.P229S KPFVKVEDMSQSPAVHLM KPFVKVEDMSQSSAVHLM 8.0 5.0 - - 3784_7:87529601-87529601 C>T_KPFVKVEDMSQSSAVHLM 0.0 14:62016407-62016407 C>T 1.0 2369 MELANOMA - - - - PRKCH ENST00000332981,p.S637F|ENST00000555082,p.S476F|uc010tsa.2,p.S476F|NM_006255,p.S637F|uc010tsb.2,p.S205F|uc001xfn.3,p.S637F protein_coding, processed_transcript uc010tsb.2 nonsynonymous SNV exon6 c.C614T p.S205F RQIEPPFRPRIKSREDVSNFDPDFI RQIEPPFRPRIKFREDVSNFDPDFI 7.0 2.0 - - 2369_14:62016407-62016407 C>T_RQIEPPFRPRIKFREDVSNFDPDFI 0.0 19:8389421-8389421 C>T 0.0 4189 MELANOMA - - - - KANK3 NM_198471,p.S765N|ENST00000593649,p.S765N|uc010dwa.3,p.S765N|ENST00000330915,p.S765N retained_intron, protein_coding uc010dwa.3 nonsynonymous SNV exon10 c.G2294A p.S765N GCDPAILDNEGTSALAIALEAEQDE GCDPAILDNEGTNALAIALEAEQDE 4.0 10.0 - - 4189_19:8389421-8389421 C>T_GCDPAILDNEGTNALAIALEAEQDE 0.0 2:152132127-152132127 G>A 1.0 4180 BREAST - - - - NMI ENST00000243346,p.R169C|uc002txi.2,p.R169C|NM_004688,p.R169C retained_intron, protein_coding uc002txi.2 nonsynonymous SNV exon6 c.C505T p.R169C MKINVTEIPDTLREDQMRDKLELSF MKINVTEIPDTLCEDQMRDKLELSF 10.0 6.0 - - 4180_2:152132127-152132127 G>A_MKINVTEIPDTLCEDQMRDKLELSF 0.0 17:42824510-42824510 A>C 0.0 4320 COLORECTAL - - - - DBF4B NM_145663,p.K297T|ENST00000315005,p.K297T|ENST00000393547,p.K297T|uc010wjc.2,p.K297T|NM_025104,p.K297T|uc002ihe.3,p.K111T|uc002ihf.3,p.K297T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wjc.2 nonsynonymous SNV exon11 c.A890C p.K297T SPRSAAHTMPRRKKGYCECCQEAFE SPRSAAHTMPRRTKGYCECCQEAFE 6.0 4.0 - - 4320_17:42824510-42824510 A>C_SPRSAAHTMPRRTKGYCECCQEAFE 0.0 2:113498584-113498584 C>T 1.0 3879 MELANOMA - - - - CKAP2L NM_152515,p.G608E|ENST00000302450,p.G608E|uc002tie.2,p.G608E|ENST00000541405,p.G443E|uc002tif.2,p.G197E|uc010yxp.1,p.G443E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010yxp.1 nonsynonymous SNV exon8 c.G1328A p.G443E LNILQDSNRTTEGITSDSLVAETSI LNILQDSNRTTEEITSDSLVAETSI 5.0 6.0 - - 3879_2:113498584-113498584 C>T_LNILQDSNRTTEEITSDSLVAETSI 0.0 6:32164798-32164798 T>G 1.0 4189 MELANOMA - - - - NOTCH4 uc003obb.3,p.T1702P|uc011dpt.2,p.T111P|ENST00000443903,p.T111P|NM_004557,p.T1702P|uc003oba.3,p.T362P|uc011dpw.1,p.T111P|ENST00000375023,p.T1702P retained_intron, protein_coding, processed_transcript uc011dpw.1 nonsynonymous SNV exon2 c.A331C p.T111P RQTAVDARTEDGTTPLMLAARLAVE RQTAVDARTEDGPTPLMLAARLAVE 5.0 5.0 - - 4189_6:32164798-32164798 T>G_RQTAVDARTEDGPTPLMLAARLAVE 0.0 3:125271508-125271508 A>T 1.0 3713 MELANOMA - - - - OSBPL11 ENST00000296220,p.F391I|NM_022776,p.F391I|uc003eic.3,p.F391I protein_coding uc003eic.3 nonsynonymous SNV exon9 c.T1171A p.F391I LGMDLTRVVLPTFILEKRSLLEMYA LGMDLTRVVLPTIILEKRSLLEMYA 3.0 7.0 - - 3713_3:125271508-125271508 A>T_LGMDLTRVVLPTIILEKRSLLEMYA 0.0 8:143694620-143694620 C>T 0.0 4298 COLORECTAL - - - - ARC ENST00000356613,p.R338H|NM_015193,p.R338H|uc003ywn.2,p.R338H|uc022bca.1,p.R338H protein_coding, processed_transcript uc022bca.1 nonsynonymous SNV exon1 c.G1013A p.R338H VGTLQPKLKRFLRHPLPKTLEQLIQ VGTLQPKLKRFLHHPLPKTLEQLIQ 4.0 2.0 - - 4298_8:143694620-143694620 C>T_VGTLQPKLKRFLHHPLPKTLEQLIQ 0.0 7:149558208-149558208 A>T 1.0 4329 COLORECTAL - - - - ZNF862 NM_001099220,p.K653N|ENST00000223210,p.K653N|uc010lpn.3,p.K653N retained_intron, protein_coding, processed_transcript uc010lpn.3 nonsynonymous SNV exon7 c.A1959T p.K653N GIYIRYFKQMEVKESYITLAPLYSE GIYIRYFKQMEVNESYITLAPLYSE 7.0 3.0 - - 4329_7:149558208-149558208 A>T_GIYIRYFKQMEVNESYITLAPLYSE 0.0 17:61908399-61908399 C>G 1.0 4252 COLORECTAL - - - - PSMC5 ENST00000375812,p.A220G|uc002jcd.3,p.A220G|NM_002805,p.A228G|uc002jcb.3,p.A228G|ENST00000582130,p.A209G|ENST00000581882,p.A220G|NM_001199163,p.A220G|uc010ddy.3,p.A205G|ENST00000584320,p.A220G|ENST00000585123,p.A220G|ENST00000310144,p.A228G|ENST00000580864,p.A220G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010ddy.3 nonsynonymous SNV exon7 c.C614G p.A205G GSELVQKFIGEGARMVRELFVMARE GSELVQKFIGEGGRMVRELFVMARE 10.0 6.0 - - 4252_17:61908399-61908399 C>G_GSELVQKFIGEGGRMVRELFVMARE 0.0 4:187153295-187153295 C>T 0.0 2359 MELANOMA - - - - KLKB1 ENST00000513864,p.L25F|ENST00000264690,p.L25F|uc003iyy.3,p.L25F|NM_000892,p.L25F|ENST00000428196,p.L25F retained_intron, protein_coding uc003iyy.3 nonsynonymous SNV exon3 c.C73T p.L25F LFATVSCGCLTQLYENAFFRGGDVA LFATVSCGCLTQFYENAFFRGGDVA 2.0 2.0 - - 2359_4:187153295-187153295 C>T_LFATVSCGCLTQFYENAFFRGGDVA 0.0 17:73227673-73227673 G>A 1.0 4252 COLORECTAL - - - - NUP85 uc010wrv.1,p.G349D|ENST00000579324,p.G283D|ENST00000579298,p.G350D|NM_024844,p.G395D|ENST00000541827,p.G349D|ENST00000245544,p.G395D|ENST00000447371,p.G227D|uc002jng.1,p.G395D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wrv.1 nonsynonymous SNV exon12 c.G1046A p.G349D HCKLLQSHNLYFGSNMREFLLLEYA HCKLLQSHNLYFDSNMREFLLLEYA 10.0 10.0 CD8 - 4252_17:73227673-73227673 G>A_HCKLLQSHNLYFDSNMREFLLLEYA 2.0 1:171890926-171890926 G>A 0.0 4155 MELANOMA - - - - DNM3 ENST00000358155,p.R67Q|uc001gif.4,p.R67Q|uc001gie.4,p.R67Q|ENST00000520906,p.R67Q|uc001gid.5,p.R67Q|NM_001136127,p.R67Q|uc009wwb.3,p.R67Q|ENST00000367733,p.R67Q|ENST00000367731,p.R67Q|NM_001278252,p.R67Q|NM_015569,p.R67Q|ENST00000355305,p.R67Q retained_intron, protein_coding uc009wwb.3 nonsynonymous SNV exon2 c.G200A p.R67Q DFLPRGSGIVTRRPLVLQLVTSKAE DFLPRGSGIVTRQPLVLQLVTSKAE 3.0 4.0 - - 4155_1:171890926-171890926 G>A_DFLPRGSGIVTRQPLVLQLVTSKAE 0.0 8:144522463-144522463 C>T 1.0 4136 BREAST - - - - ZC3H3 ENST00000262577,p.A855T|uc003yyd.2,p.A855T|NM_015117,p.A855T protein_coding uc003yyd.2 nonsynonymous SNV exon11 c.G2563A p.A855T TPSSAALTAAAVAAPPHCPGGSASP TPSSAALTAAAVTAPPHCPGGSASP 6.0 8.0 - - 4136_8:144522463-144522463 C>T_TPSSAALTAAAVTAPPHCPGGSASP 0.0 11:27114898-27114898 A>G 0.0 2591 MELANOMA - - - - BBOX1 ENST00000525090,p.Y173C|ENST00000528583,p.Y173C|NM_003986,p.Y173C|ENST00000529202,p.Y173C|ENST00000263182,p.Y173C|uc001mre.1,p.Y173C|uc009yih.1,p.Y173C|uc021qfd.1,p.Y173C|uc001mrg.1,p.Y173C retained_intron, protein_coding, processed_transcript uc021qfd.1 nonsynonymous SNV exon3 c.A518G p.Y173C EVSKLGKRMGFLYLTFYGHTWQVQD EVSKLGKRMGFLCLTFYGHTWQVQD 1.0 9.0 - - 2591_11:27114898-27114898 A>G_EVSKLGKRMGFLCLTFYGHTWQVQD 0.0 13:76378541-76378541 C>T 1.0 3879 MELANOMA - - - - LMO7 uc010thw.2,p.R221C|uc001vjt.1,p.R260C|ENST00000357063,p.R312C|uc001vjw.1,p.R27C|ENST00000489941,p.R27C|ENST00000377534,p.R312C|ENST00000341547,p.R312C|uc021rkq.1,p.R260C|ENST00000526371,p.R27C|ENST00000525373,p.R27C|ENST00000377499,p.R260C|ENST00000526202,p.R221C|ENST00000321797,p.R27C|ENST00000526528,p.R27C|ENST00000497947,p.R27C|ENST00000465261,p.R27C|uc001vjv.3,p.R27C|uc010thv.2,p.R312C|NM_015842,p.R27C|NM_005358,p.R312C retained_intron, protein_coding, processed_transcript uc021rkq.1 nonsynonymous SNV exon8 c.C778T p.R260C SAVEPKTALPFNRFLPNKSRQPSYV SAVEPKTALPFNCFLPNKSRQPSYV 6.0 3.0 - - 3879_13:76378541-76378541 C>T_SAVEPKTALPFNCFLPNKSRQPSYV 0.0 3:138665224-138665224 T>G 0.0 4298 COLORECTAL - - - 1 FOXL2 uc003esw.3,p.K114T|NM_023067,p.K114T|ENST00000330315,p.K114T protein_coding uc003esw.3 nonsynonymous SNV exon1 c.A341C p.K114T IRHNLSLNECFIKVPREGGGERKGN IRHNLSLNECFITVPREGGGERKGN 3.0 9.0 - - 4298_3:138665224-138665224 T>G_IRHNLSLNECFITVPREGGGERKGN 0.0 2:135180489-135180489 A>C 1.0 4037 NSCLC - - - - MGAT5 ENST00000281923,p.K598T|uc002ttw.4,p.K598T|ENST00000409645,p.K598T|NM_002410,p.K598T protein_coding, processed_transcript uc002ttw.4 nonsynonymous SNV exon13 c.A1793C p.K598T EVEDAVKAILNQKIEPYMPYEFTCE EVEDAVKAILNQTIEPYMPYEFTCE 9.0 7.0 - - 4037_2:135180489-135180489 A>C_EVEDAVKAILNQTIEPYMPYEFTCE 0.0 7:87006675-87006675 C>T 0.0 4258 ENDOMETRIAL - - - - CROT NM_001143935,p.A324V|ENST00000331536,p.A296V|NM_021151,p.A296V|ENST00000442291,p.A296V|uc003uiu.3,p.A324V|uc003uit.3,p.A296V|ENST00000419147,p.A324V retained_intron, protein_coding uc003uiu.3 nonsynonymous SNV exon11 c.C971T p.A324V HVTPEDYSEIIAAILIGDPTVRWGD HVTPEDYSEIIAVILIGDPTVRWGD 4.0 6.0 - - 4258_7:87006675-87006675 C>T_HVTPEDYSEIIAVILIGDPTVRWGD 0.0 1:202092540-202092540 C>T 1.0 4284 COLORECTAL - - ID=COSM3803468;OCCURENCE=1(breast) - GPR37L1 uc001gxj.3,p.S150L|ENST00000367282,p.S150L|NM_004767,p.S150L protein_coding uc001gxj.3 nonsynonymous SNV exon1 c.C449T p.S150L LVVFAVGIVGNLSVMCIVWHSYYLK LVVFAVGIVGNLLVMCIVWHSYYLK 3.0 10.0 - - 4284_1:202092540-202092540 C>T_LVVFAVGIVGNLLVMCIVWHSYYLK 0.0 11:6422860-6422860 G>A 1.0 3713 MELANOMA 0.0005 - ID=COSM1580511;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),2(large_intestine) - APBB1 uc010rad.2,p.R200C|NM_001164,p.R483C|ENST00000299402,p.R481C|NM_145689,p.R481C|NM_001257321,p.R224C|ENST00000530885,p.R261C|uc001mdd.4,p.R261C|NM_001257319,p.R263C|ENST00000533407,p.R222C|NM_001257325,p.R248C|uc031pyu.1,p.R481C|NM_001257323,p.R261C|ENST00000311051,p.R481C|NM_001257326,p.R224C|uc001mdc.1,p.R481C|NM_001257320,p.R224C|ENST00000389906,p.R483C retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031pyu.1 nonsynonymous SNV exon9 c.C1441T p.R481C DKLTQMLKCHVFRCEAPAKNIATSL DKLTQMLKCHVFCCEAPAKNIATSL 4.0 3.0 - - 3713_11:6422860-6422860 G>A_DKLTQMLKCHVFCCEAPAKNIATSL 0.0 9:140057067-140057067 G>A 1.0 4281 COLORECTAL - - - - GRIN1 ENST00000371555,p.R651H|ENST00000315048,p.R630H|uc004clj.1,p.R627H|ENST00000350902,p.R630H|uc004cli.1,p.R305H|ENST00000371546,p.R651H|NM_021569,p.R630H|ENST00000371561,p.R630H|uc004clm.3,p.R630H|ENST00000371553,p.R651H|uc004cll.3,p.R630H|ENST00000371559,p.R630H|NM_001185091,p.R651H|NM_007327,p.R630H|uc004clk.3,p.R630H|NM_001185090,p.R651H|uc004cln.3,p.R651H|ENST00000371550,p.R630H|ENST00000371560,p.R651H|NM_000832,p.R630H|uc004clo.3,p.R651H protein_coding, processed_transcript uc004clo.3 nonsynonymous SNV exon15 c.G1952A p.R651H GIGEGAPRSFSARILGMVWAGFAMI GIGEGAPRSFSAHILGMVWAGFAMI 3.0 8.0 - - 4281_9:140057067-140057067 G>A_GIGEGAPRSFSAHILGMVWAGFAMI 0.0 1:152189004-152189004 C>T 1.0 3879 MELANOMA - - - - HRNR NM_001009931,p.G1701S|ENST00000368801,p.G1701S|uc001ezt.2,p.G1701S protein_coding uc001ezt.2 nonsynonymous SNV exon3 c.G5101A p.G1701S YGQHGSGSRQSSGHGRQGSGSGQSP YGQHGSGSRQSSSHGRQGSGSGQSP 1.0 1.0 - - 3879_1:152189004-152189004 C>T_YGQHGSGSRQSSSHGRQGSGSGQSP 0.0 21:35206692-35206692 C>T 1.0 3713 MELANOMA - - - - ITSN1 NM_001001132,p.P1145S|uc002ysz.3,p.P1069S|uc010gmj.3,p.P1024S|ENST00000399349,p.P1069S|uc002yta.1,p.P1145S|ENST00000381291,p.P1145S|uc010gmg.3,p.P1032S|ENST00000381285,p.P1145S|ENST00000381318,p.P1145S|NM_003024,p.P1145S|uc002ytj.2,p.P1140S|uc002ysx.3,p.P1103S|ENST00000399353,p.P1103S|uc002ysw.3,p.P1145S|uc002ytb.1,p.P1140S|ENST00000437442,p.P1140S|uc021wip.1,p.P963S|uc002yte.3,p.P1008S|ENST00000399352,p.P1140S|uc010gmk.3,p.P1037S|ENST00000399355,p.P1074S|uc002ysy.3,p.P1140S|uc010gmi.3,p.P1108S|ENST00000399367,p.P1140S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021wip.1 nonsynonymous SNV exon20 c.C2887T p.P963S VKLLSPGTSKITPTEPPKSTALAAV VKLLSPGTSKITSTEPPKSTALAAV 4.0 8.0 - - 3713_21:35206692-35206692 C>T_VKLLSPGTSKITSTEPPKSTALAAV 0.0 19:52249734-52249734 C>T 0.0 3903 MELANOMA - - - - FPR1 NM_001193306,p.G172R|NM_002029,p.G172R|ENST00000600815,p.G172R|uc021uyo.1,p.G172R|uc002pxq.3,p.G172R|ENST00000595042,p.G172R|ENST00000304748,p.G172R|uc021uyn.1,p.G172R protein_coding uc021uyo.1 nonsynonymous SNV exon1 c.G514A p.G172R VIIRVTTVPGKTGTVACTFNFSPWT VIIRVTTVPGKTRTVACTFNFSPWT 8.0 8.0 - - 3903_19:52249734-52249734 C>T_VIIRVTTVPGKTRTVACTFNFSPWT 0.0 1:237774245-237774245 G>T 0.0 4158 COLORECTAL - - - - RYR2 NM_001035,p.D1623Y|ENST00000360064,p.D1621Y|ENST00000542537,p.D1607Y|ENST00000366574,p.D1623Y|uc001hyl.1,p.D1623Y protein_coding, processed_transcript uc001hyl.1 nonsynonymous SNV exon36 c.G4867T p.D1623Y ISERQGWLVQCLDPLQFMSLHIPEE ISERQGWLVQCLYPLQFMSLHIPEE 4.0 8.0 - - 4158_1:237774245-237774245 G>T_ISERQGWLVQCLYPLQFMSLHIPEE 0.0 5:127668648-127668648 C>A 0.0 4329 COLORECTAL - - - - FBN2 ENST00000507835,p.C243F|uc003kuv.2,p.C1360F|ENST00000262464,p.C1393F|ENST00000508053,p.C1393F|NM_001999,p.C1393F|uc003kuu.3,p.C1393F|ENST00000508989,p.C1360F retained_intron, protein_coding, processed_transcript uc003kuv.2 nonsynonymous SNV exon31 c.G4079T p.C1360F HASCLNIPGSFKCSCREGWIGNGIK HASCLNIPGSFKFSCREGWIGNGIK 3.0 3.0 - - 4329_5:127668648-127668648 C>A_HASCLNIPGSFKFSCREGWIGNGIK 0.0 12:98941500-98941500 C>T 1.0 2556 MELANOMA - - - - TMPO uc001tfk.3,p.S301F|NM_001032283,p.S410F|uc001tfj.3,p.S410F|ENST00000393053,p.S301F|NM_001032284,p.S301F|ENST00000343315,p.S370F|ENST00000556029,p.S410F retained_intron, protein_coding, processed_transcript uc001tfk.3 nonsynonymous SNV exon6 c.C902T p.S301F ADVKSEKTKKGRSIPVWIKILLFVV ADVKSEKTKKGRFIPVWIKILLFVV 10.0 9.0 - - 2556_12:98941500-98941500 C>T_ADVKSEKTKKGRFIPVWIKILLFVV 0.0 17:79094576-79094576 C>T 1.0 4000 MELANOMA - - - - AATK ENST00000417379,p.E951K|uc010dia.3,p.E1054K|uc021ueu.1,p.E951K|NM_001080395,p.E1054K|ENST00000326724,p.E1054K|NM_004920,p.E951K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021ueu.1 nonsynonymous SNV exon10 c.G2851A p.E951K GVSGEAQGSGPGEVLPPLLQLEGSS GVSGEAQGSGPGKVLPPLLQLEGSS 5.0 10.0 - - 4000_17:79094576-79094576 C>T_GVSGEAQGSGPGKVLPPLLQLEGSS 0.0 2:148653983-148653983 C>T 0.0 4235 COLORECTAL - - ID=COSM1399821;OCCURENCE=1(large_intestine) 1 ACVR2A NM_001278579,p.R57W|ENST00000241416,p.R57W|NM_001616,p.R57W|ENST00000404590,p.R57W|uc002twh.3,p.R57W|uc002twg.3,p.R57W retained_intron, protein_coding, processed_transcript uc002twh.3 nonsynonymous SNV exon2 c.C169T p.R57W TGVEPCYGDKDKRRHCFATWKNISG TGVEPCYGDKDKWRHCFATWKNISG 7.0 5.0 - - 4235_2:148653983-148653983 C>T_TGVEPCYGDKDKWRHCFATWKNISG 0.0 4:89338673-89338673 C>T 1.0 3466 MELANOMA - - - - HERC6 NM_001165136,p.T552I|ENST00000380265,p.T552I|uc011cdj.2,p.T552I|ENST00000264346,p.T552I|NM_017912,p.T552I|uc011cdi.2,p.T552I retained_intron, protein_coding, nonsense_mediated_decay uc011cdj.2 nonsynonymous SNV exon13 c.C1655T p.T552I AAIISQLLHQTKTEQDHCNVKALLG AAIISQLLHQTKIEQDHCNVKALLG 6.0 2.0 - - 3466_4:89338673-89338673 C>T_AAIISQLLHQTKIEQDHCNVKALLG 0.0 5:40843312-40843314 AGA>- 0.0 4238 COLORECTAL - - - - CARD6 NM_032587,p.114_115del|uc003jmg.3,p.114_115del|ENST00000254691,p.114_115del|ENST00000381677,p.114_115del protein_coding uc003jmg.3 nonframeshift deletion exon2 c.342_344del p.114_115del TVPPQSMGASSNSEDAFSPGIKQPE TVPPQSMGASSNSDAFSPGIKQPEA 3.0 4.0 - - 4238_5:40843312-40843314 AGA>-_TVPPQSMGASSNSDAFSPGIKQPEA 0.0 3:48698992-48698992 C>T 1.0 4266 COLORECTAL - - - - CELSR3 NM_001407,p.R359H|ENST00000164024,p.R359H|uc003cuf.1,p.R429H|ENST00000544264,p.R359H|uc003cul.3,p.R359H retained_intron, protein_coding uc003cul.3 nonsynonymous SNV exon1 c.G1076A p.R359H VVAQDPDAGEAGRLVYSLAALMNSR VVAQDPDAGEAGHLVYSLAALMNSR 5.0 7.0 - - 4266_3:48698992-48698992 C>T_VVAQDPDAGEAGHLVYSLAALMNSR 0.0 3:151056195-151056195 C>T 0.0 4245 COLORECTAL - - - - P2RY12 uc003eyw.1,p.V147I|uc003eyx.1,p.V147I|NM_176876,p.V147I|uc021xga.1,p.V147I|ENST00000302632,p.V147I|NM_022788,p.V147I retained_intron, protein_coding uc021xga.1 nonsynonymous SNV exon1 c.G439A p.V147I PKNLLGAKILSVVIWAFMFLLSLPN PKNLLGAKILSVIIWAFMFLLSLPN 4.0 9.0 - - 4245_3:151056195-151056195 C>T_PKNLLGAKILSVIIWAFMFLLSLPN 0.0 6:128388773-128388773 G>A 1.0 4000 MELANOMA - - ID=COSM236211;OCCURENCE=1(autonomic_ganglia) 1 PTPRK ENST00000368226,p.A683V|ENST00000532331,p.A683V|NM_002844,p.A683V|ENST00000368227,p.A683V|ENST00000368210,p.A683V|uc003qbl.1,p.A553V|ENST00000368215,p.A683V|NM_001291982,p.A683V|ENST00000368207,p.A683V|ENST00000368213,p.A683V|NM_001291983,p.A554V|uc003qbj.3,p.A683V|uc011ebu.2,p.A683V|NM_001135648,p.A683V|uc010kfc.3,p.A683V|uc011ebv.1,p.A683V|NM_001291981,p.A683V|NM_001291984,p.A683V|uc003qbk.3,p.A683V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011ebv.1 nonsynonymous SNV exon12 c.C2048T p.A683V AAELPPGNLPEPAPFTVGDNRTYQG AAELPPGNLPEPVPFTVGDNRTYQG 1.0 5.0 - - 4000_6:128388773-128388773 G>A_AAELPPGNLPEPVPFTVGDNRTYQG 0.0 7:148768242-148768242 T>G 1.0 4329 COLORECTAL - - - - ZNF786 ENST00000451334,p.K504T|ENST00000316286,p.K455T|ENST00000491431,p.K541T|uc003wfh.2,p.K541T|uc011kuk.1,p.K504T|NM_152411,p.K541T|uc003wfi.2,p.K455T protein_coding uc011kuk.1 nonsynonymous SNV exon5 c.A1511C p.K504T RVHSGERPFQCLKCDKRFRLKGILK RVHSGERPFQCLTCDKRFRLKGILK 5.0 3.0 - - 4329_7:148768242-148768242 T>G_RVHSGERPFQCLTCDKRFRLKGILK 0.0 X:119389123-119389123 A>C 0.0 4335 COLORECTAL - - - - ZBTB33 uc010nqm.1,p.K618T|NM_006777,p.K618T|uc022cdm.1,p.K618T|NM_001184742,p.K618T|ENST00000326624,p.K618T|uc004esn.1,p.K618T|ENST00000557385,p.K618T protein_coding uc022cdm.1 nonsynonymous SNV exon1 c.A1853C p.K618T TIPAMKDDGIGYKVDTGKEPPVGTT TIPAMKDDGIGYTVDTGKEPPVGTT 6.0 4.0 - - 4335_X:119389123-119389123 A>C_TIPAMKDDGIGYTVDTGKEPPVGTT 0.0 9:43626759-43626759 G>A 0.0 4177 PANCREATIC - rs2491539 - - SPATA31A6 ENST00000332857,p.T643M|uc011lrb.2,p.T643M|NM_001145196,p.T643M protein_coding, processed_transcript uc011lrb.2 nonsynonymous SNV exon4 c.C1928T p.T643M QAKGKPSPWQSSTSTGESSKEAQKV QAKGKPSPWQSSMSTGESSKEAQKV 1.0 9.0 - - 4177_9:43626759-43626759 G>A_QAKGKPSPWQSSMSTGESSKEAQKV 0.0 7:149171717-149171717 G>T 1.0 4240 BREAST - - - - ZNF746 uc010lpi.2,p.P566T|ENST00000340622,p.P565T|uc003wfw.2,p.P565T|ENST00000458143,p.P566T|NM_001163474,p.P566T|NM_152557,p.P565T retained_intron, protein_coding uc010lpi.2 nonsynonymous SNV exon7 c.C1696A p.P566T LIDHYRTHTGVRPFTCTVCGKSFIR LIDHYRTHTGVRTFTCTVCGKSFIR 7.0 9.0 - - 4240_7:149171717-149171717 G>T_LIDHYRTHTGVRTFTCTVCGKSFIR 0.0 8:11188884-11188884 G>A 0.0 4346 COLORECTAL 0.0009 - - - SLC35G5 uc003wtp.1,p.R90H|NM_054028,p.R90H|ENST00000382435,p.R90H protein_coding uc003wtp.1 nonsynonymous SNV exon1 c.G269A p.R90H LFHLPIALLLKLRGDPLLGPPDIRG LFHLPIALLLKLHGDPLLGPPDIRG 3.0 2.0 - - 4346_8:11188884-11188884 G>A_LFHLPIALLLKLHGDPLLGPPDIRG 0.0 4:145628255-145628255 G>A 1.0 4069 PANCREATIC - - - - HHIP uc003ijs.2,p.V334I|NM_022475,p.V334I|ENST00000296575,p.V334I retained_intron, protein_coding, processed_transcript uc003ijs.2 nonsynonymous SNV exon6 c.G1000A p.V334I VEYTVSRKNPHQVDLRTARVFLEVA VEYTVSRKNPHQIDLRTARVFLEVA 4.0 10.0 - - 4069_4:145628255-145628255 G>A_VEYTVSRKNPHQIDLRTARVFLEVA 0.0 1:182554693-182554693 A>C 1.0 4329 COLORECTAL - - - - RNASEL uc009wxz.2,p.L417V|ENST00000367559,p.L417V|uc009wya.1,p.L417V|NM_021133,p.L417V|ENST00000444138,p.L417V|ENST00000539397,p.L417V|uc001gpk.3,p.L417V protein_coding uc009wya.1 nonsynonymous SNV exon1 c.T1249G p.L417V VSCLQSSRENSHLVTFYGSESHRGH VSCLQSSRENSHVVTFYGSESHRGH 5.0 3.0 - - 4329_1:182554693-182554693 A>C_VSCLQSSRENSHVVTFYGSESHRGH 0.0 16:3350226-3350226 C>T 1.0 3998 MELANOMA - - ID=COSM3377889;OCCURENCE=1(pancreas) - TIGD7 ENST00000268674,p.R130Q|ENST00000396862,p.R130Q|NM_033208,p.R130Q|uc021tcc.1,p.R130Q|uc002cus.3,p.R130Q protein_coding, processed_transcript uc021tcc.1 nonsynonymous SNV exon1 c.G389A p.R130Q DFKASTGWLFRFRNRHAIGNRKGCG DFKASTGWLFRFQNRHAIGNRKGCG 5.0 7.0 - - 3998_16:3350226-3350226 C>T_DFKASTGWLFRFQNRHAIGNRKGCG 0.0 11:34378964-34378964 C>A 0.0 4149 OVARIAN - - - - ABTB2 uc001mvl.2,p.C56F|NM_145804,p.C56F|ENST00000435224,p.C56F protein_coding, processed_transcript uc001mvl.2 nonsynonymous SNV exon1 c.G167T p.C56F SSAQQHRGAAWWCYSGSMNSRHNSW SSAQQHRGAAWWFYSGSMNSRHNSW 1.0 4.0 - - 4149_11:34378964-34378964 C>A_SSAQQHRGAAWWFYSGSMNSRHNSW 0.0 16:2747924-2747924 G>A 1.0 4240 BREAST - - - - KCTD5 ENST00000301738,p.E127K|NM_018992,p.E127K|uc002crd.3,p.E127K protein_coding, processed_transcript uc002crd.3 nonsynonymous SNV exon3 c.G379A p.E127K KDLAEEGVLEEAEFYNITSLIKLVK KDLAEEGVLEEAKFYNITSLIKLVK 8.0 10.0 - - 4240_16:2747924-2747924 G>A_KDLAEEGVLEEAKFYNITSLIKLVK 0.0 7:103275990-103275990 T>C 0.0 3795 MELANOMA - - - - RELN uc010liz.3,p.S783G|ENST00000428762,p.S783G|NM_005045,p.S783G|ENST00000424685,p.S783G|uc022ajq.1,p.S783G|ENST00000343529,p.S783G|uc022ajr.1,p.S783G|NM_173054,p.S783G retained_intron, protein_coding, processed_transcript uc022ajr.1 nonsynonymous SNV exon19 c.A2347G p.S783G QFTLRLGSKSVLSTCRAPDQPGEGV QFTLRLGSKSVLGTCRAPDQPGEGV 2.0 2.0 - - 3795_7:103275990-103275990 T>C_QFTLRLGSKSVLGTCRAPDQPGEGV 0.0 2:219513378-219513378 C>A 1.0 4129 NSCLC - - - - ZNF142 uc002vil.3,p.R379L|NM_001105537,p.R418L|uc002vim.4,p.R255L|ENST00000449707,p.R418L|uc002vin.4,p.R418L|ENST00000411696,p.R418L|uc010fvt.4,p.R255L protein_coding, nonsense_mediated_decay uc010fvt.4 nonsynonymous SNV exon7 c.G764T p.R255L CNFATAHKRVLIRHMLLHTGEKPHK CNFATAHKRVLILHMLLHTGEKPHK 6.0 6.0 - - 4129_2:219513378-219513378 C>A_CNFATAHKRVLILHMLLHTGEKPHK 0.0 3:186505004-186505004 A>G 1.0 4180 BREAST - - - 1 EIF4A2 uc003fqv.3,p.D192G|ENST00000425053,p.D287G|uc011bsb.2,p.D160G|ENST00000356531,p.D192G|ENST00000440191,p.D288G|ENST00000323963,p.D287G|uc003fqs.3,p.D287G|uc003fqw.3,p.D192G|uc003fqu.3,p.D288G|NM_001967,p.D287G retained_intron, protein_coding, nonsense_mediated_decay uc011bsb.2 nonsynonymous SNV exon4 c.A479G p.D160G QAVIFLNTRRKVDWLTEKMHARDFT QAVIFLNTRRKVGWLTEKMHARDFT 10.0 5.0 - - 4180_3:186505004-186505004 A>G_QAVIFLNTRRKVGWLTEKMHARDFT 0.0 3:52428517-52428517 T>C 0.0 4335 COLORECTAL - - - - DNAH1 ENST00000420323,p.S3555P|uc003ddv.3,p.S413P|NM_015512,p.S3555P|uc011bef.2,p.S3555P|ENST00000490713,p.S455P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bef.2 nonsynonymous SNV exon67 c.T10663C p.S3555P SEWRYLLSGGSISIMTENPAPDWLS SEWRYLLSGGSIPIMTENPAPDWLS 9.0 6.0 - - 4335_3:52428517-52428517 T>C_SEWRYLLSGGSIPIMTENPAPDWLS 0.0 4:16165022-16165022 G>A 1.0 4037 NSCLC - - - - TAPT1 uc010ied.1,p.T538M|NM_153365,p.T538M|uc011bxe.1,p.T427M|ENST00000399920,p.T427M|ENST00000405303,p.T538M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bxe.1 nonsynonymous SNV exon13 c.C1280T p.T427M FLTTPDGDEKDITQDNSELKHRSSK FLTTPDGDEKDIMQDNSELKHRSSK 7.0 10.0 - - 4037_4:16165022-16165022 G>A_FLTTPDGDEKDIMQDNSELKHRSSK 0.0 6:70608903-70608903 T>A 0.0 4258 ENDOMETRIAL - - - - COL19A1 NM_001858,p.L52H|uc003pfc.1,p.L52H|ENST00000322773,p.L52H protein_coding, processed_transcript uc003pfc.1 nonsynonymous SNV exon3 c.T155A p.L52H EGHQLTYDNINKLEVSGFDLGDSFS EGHQLTYDNINKHEVSGFDLGDSFS 4.0 8.0 - - 4258_6:70608903-70608903 T>A_EGHQLTYDNINKHEVSGFDLGDSFS 0.0 12:100452524-100452524 T>A 0.0 4158 COLORECTAL - - - - UHRF1BP1L uc001tgq.3,p.D844V|uc001tgp.3,p.D494V|ENST00000279907,p.D844V|ENST00000545232,p.D494V|NM_015054,p.D844V retained_intron, protein_coding, nonsense_mediated_decay uc001tgq.3 nonsynonymous SNV exon14 c.A2531T p.D844V ESLILLSENLRKDVEAVTGSPASQT ESLILLSENLRKVVEAVTGSPASQT 5.0 4.0 - - 4158_12:100452524-100452524 T>A_ESLILLSENLRKVVEAVTGSPASQT 0.0 10:31138595-31138595 T>G 1.0 4287 COLORECTAL - - - - ZNF438 NM_182755,p.T247P|ENST00000413025,p.T247P|NM_001143770,p.T237P|uc001ivp.4,p.T237P|uc001ivn.3,p.T198P|ENST00000452305,p.T237P|uc010qeb.2,p.T247P|ENST00000444692,p.T237P|uc010qea.2,p.T247P|ENST00000442986,p.T247P|NM_001143768,p.T247P|ENST00000436087,p.T247P|uc009xlg.3,p.T247P|ENST00000538351,p.T198P|uc010qdy.2,p.T237P|ENST00000331737,p.T237P|ENST00000361310,p.T247P|NM_001143771,p.T237P|uc010qdz.2,p.T247P|NM_001143769,p.T198P|NM_001143767,p.T247P|NM_001143766,p.T247P protein_coding uc010qeb.2 nonsynonymous SNV exon5 c.A739C p.T247P ALSGKAHFVSKITSSKPSAVASEKF ALSGKAHFVSKIPSSKPSAVASEKF 5.0 10.0 - - 4287_10:31138595-31138595 T>G_ALSGKAHFVSKIPSSKPSAVASEKF 0.0 19:17115116-17115116 C>A 1.0 4129 NSCLC - - - - CPAMD8 ENST00000291440,p.A261S|ENST00000443236,p.A261S|ENST00000388925,p.A214S|uc002nfb.3,p.A261S|NM_015692,p.A261S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002nfb.3 nonsynonymous SNV exon8 c.G781T p.A261S GEWFIFVEMQGHAYNKSFEVQKYVL GEWFIFVEMQGHSYNKSFEVQKYVL 4.0 9.0 - - 4129_19:17115116-17115116 C>A_GEWFIFVEMQGHSYNKSFEVQKYVL 0.0 1:113235481-113235481 A>G 1.0 4126 NSCLC - - - - MOV10 NM_001286072,p.H301R|uc001ecm.3,p.H297R|uc001ecn.3,p.H357R|NM_001130079,p.H357R|ENST00000357443,p.H357R|uc009wgj.1,p.H297R|NM_020963,p.H357R|ENST00000369644,p.H301R|uc001ecl.2,p.H357R|uc001eck.3,p.H357R|ENST00000369645,p.H357R|ENST00000413052,p.H357R protein_coding, processed_transcript uc009wgj.1 nonsynonymous SNV exon7 c.A890G p.H297R HLEELQMEHDIRHYDLESVPMTWDP HLEELQMEHDIRRYDLESVPMTWDP 9.0 8.0 - - 4126_1:113235481-113235481 A>G_HLEELQMEHDIRRYDLESVPMTWDP 0.0 X:8565143-8565143 G>C 0.0 4238 COLORECTAL - - - - KAL1 NM_000216,p.S158C|uc004csf.3,p.S158C|ENST00000262648,p.S158C protein_coding, processed_transcript uc004csf.3 nonsynonymous SNV exon4 c.C473G p.S158C ACVESCEVDNECSGVKKCCSNGCGH ACVESCEVDNECCGVKKCCSNGCGH 2.0 7.0 - - 4238_X:8565143-8565143 G>C_ACVESCEVDNECCGVKKCCSNGCGH 0.0 12:4747350-4747350 C>T 0.0 4237 NSCLC - - - - AKAP3 ENST00000540967,p.V5I|uc031qfv.1,p.V5I|ENST00000545990,p.V5I|ENST00000228850,p.V5I|NM_006422,p.V5I|ENST00000536414,p.V5I|NM_001278309,p.V5I|uc001qnb.4,p.V5I protein_coding, processed_transcript uc031qfv.1 nonsynonymous SNV exon4 c.G13A p.V5I MSEKVDWLQSQNGVCKV MSEKIDWLQSQNGVCKV 4.0 9.0 - - 4237_12:4747350-4747350 C>T_MSEKIDWLQSQNGVCKV 0.0 17:56440739-56440739 G>A 1.0 4160 COLORECTAL - - - 1 RNF43 uc002iwf.3,p.P160L|uc002iwh.4,p.P160L|uc002iwg.4,p.P160L|uc010dcw.3,p.P33L|ENST00000407977,p.P160L|ENST00000581868,p.P33L|ENST00000583753,p.P119L|NM_017763,p.P160L|ENST00000500597,p.P119L|uc010wnv.2,p.P119L|ENST00000577625,p.P33L|ENST00000584437,p.P160L|ENST00000577716,p.P160L retained_intron, protein_coding, processed_transcript uc010wnv.2 nonsynonymous SNV exon3 c.C356T p.P119L AEQLQQPLGLTWPVVLIWGNDAEKL AEQLQQPLGLTWLVVLIWGNDAEKL 10.0 10.0 - - 4160_17:56440739-56440739 G>A_AEQLQQPLGLTWLVVLIWGNDAEKL 0.0 5:50679518-50679518 G>A 0.0 3903 MELANOMA - - ID=COSM1620356;OCCURENCE=2(liver) - ISL1 NM_002202,p.G5R|ENST00000230658,p.G5R|ENST00000511384,p.G5R|uc003jor.3,p.G5R protein_coding uc003jor.3 nonsynonymous SNV exon1 c.G13A p.G5R MGDMGDPPKKKRLISLC MGDMRDPPKKKRLISLC 2.0 6.0 - - 3903_5:50679518-50679518 G>A_MGDMRDPPKKKRLISLC 0.0 7:100350487-100350487 C>A 0.0 4110 BILE DUCT - - - - ZAN ENST00000546292,p.P920H|uc003uwk.3,p.P920H|uc003uwj.3,p.P920H|ENST00000538115,p.P920H|ENST00000542585,p.P920H protein_coding, polymorphic_pseudogene uc003uwk.3 nonsynonymous SNV exon14 c.C2759A p.P920H ISPEKPTISTEKPTIPTEKPTIPTE ISPEKPTISTEKHTIPTEKPTIPTE 1.0 7.0 - - 4110_7:100350487-100350487 C>A_ISPEKPTISTEKHTIPTEKPTIPTE 0.0 3:27763340-27763340 G>A 0.0 4258 ENDOMETRIAL - - - - EOMES ENST00000449599,p.P149L|NM_001278182,p.P149L|uc003cdy.4,p.P149L|uc003cdx.4,p.P149L|ENST00000295743,p.P149L|uc010hfn.3,p.P149L|NM_005442,p.P149L protein_coding, processed_transcript uc010hfn.3 nonsynonymous SNV exon1 c.C446T p.P149L DSLSSERYYLQSPGPQGSELAAPCS DSLSSERYYLQSLGPQGSELAAPCS 5.0 4.0 - - 4258_3:27763340-27763340 G>A_DSLSSERYYLQSLGPQGSELAAPCS 0.0 19:54756803-54756803 C>T 0.0 4326 BREAST - - - - LILRB5 uc002qez.3,p.V369I|uc002qey.3,p.V469I|NM_006840,p.V468I|NM_001081443,p.V369I|uc002qex.3,p.V468I|NM_001081442,p.V469I|ENST00000345866,p.V369I|ENST00000450632,p.V460I|ENST00000316219,p.V468I|uc010yer.1,p.V460I|ENST00000449561,p.V469I retained_intron, protein_coding uc010yer.1 nonsynonymous SNV exon9 c.G1378A p.V460I HLGVVTGVSVAFVLLLFLLLFLLLR HLGVVTGVSVAFILLLFLLLFLLLR 5.0 9.0 - - 4326_19:54756803-54756803 C>T_HLGVVTGVSVAFILLLFLLLFLLLR 0.0 1:32714117-32714117 G>A 1.0 4258 ENDOMETRIAL - - - - FAM167B uc001buw.3,p.G136E|NM_032648,p.G136E|ENST00000373582,p.G136E protein_coding uc001buw.3 nonsynonymous SNV exon2 c.G407A p.G136E LDEAELELELEPGAGLALAPLLRHL LDEAELELELEPEAGLALAPLLRHL 6.0 3.0 - - 4258_1:32714117-32714117 G>A_LDEAELELELEPEAGLALAPLLRHL 0.0 1:209799350-209799350 C>T 1.0 3713 MELANOMA - - - - LAMB3 uc001hhh.3,p.G540E|ENST00000367030,p.G540E|NM_001017402,p.G540E|ENST00000391911,p.G540E|NM_000228,p.G540E|NM_001127641,p.G540E|ENST00000356082,p.G540E|uc009xco.3,p.G540E|uc001hhg.3,p.G540E protein_coding uc009xco.3 nonsynonymous SNV exon14 c.G1619A p.G540E ATGCRACDCDFRGTEGPGCDKASGR ATGCRACDCDFRETEGPGCDKASGR 1.0 4.0 - - 3713_1:209799350-209799350 C>T_ATGCRACDCDFRETEGPGCDKASGR 0.0 20:61574937-61574937 A>T 1.0 4037 NSCLC - - - - GID8 ENST00000266069,p.S136C|uc002ydy.3,p.S136C|NM_017896,p.S136C protein_coding, processed_transcript uc002ydy.3 nonsynonymous SNV exon4 c.A406T p.S136C FAQTQLAEQGEESRECLTEMERTLA FAQTQLAEQGEECRECLTEMERTLA 10.0 6.0 - - 4037_20:61574937-61574937 A>T_FAQTQLAEQGEECRECLTEMERTLA 0.0 12:113545997-113545997 G>C 1.0 3775 CERVICAL - - - - RASAL1 ENST00000546530,p.L470V|NM_001193520,p.L470V|uc001tun.2,p.L470V retained_intron, protein_coding, processed_transcript uc001tun.2 nonsynonymous SNV exon15 c.C1408G p.L470V QQDVKYLAISGFLFLRFFAPAILTP QQDVKYLAISGFVFLRFFAPAILTP 5.0 10.0 - - 3775_12:113545997-113545997 G>C_QQDVKYLAISGFVFLRFFAPAILTP 0.0 1:34164382-34164382 G>T 0.0 4110 BILE DUCT - - - - CSMD2 uc001bxm.1,p.T1299N|NM_001281956,p.T1299N|ENST00000241312,p.T1259N|uc001bxo.1,p.T172N|ENST00000373381,p.T1299N|ENST00000373380,p.T172N|uc001bxn.1,p.T1259N|NM_052896,p.T1259N protein_coding, processed_transcript, nonsense_mediated_decay uc001bxo.1 nonsynonymous SNV exon3 c.C515A p.T172N SEELLCLSGERRTWDRPLPTCVAEC SEELLCLSGERRNWDRPLPTCVAEC 2.0 5.0 - - 4110_1:34164382-34164382 G>T_SEELLCLSGERRNWDRPLPTCVAEC 0.0 4:3216908-3216908 G>A 1.0 2556 MELANOMA - - - - HTT ENST00000355072,p.E2342K retained_intron, protein_coding, processed_transcript ENST00000355072 nonsynonymous SNV exon51 c.G7024A p.E2342K ERRTNTPKAISEEEEEVDPNTQNPK ERRTNTPKAISEKEEEVDPNTQNPK 9.0 8.0 - - 2556_4:3216908-3216908 G>A_ERRTNTPKAISEKEEEVDPNTQNPK 0.0 20:17474766-17474766 C>T 1.0 4189 MELANOMA - - - - BFSP1 NM_001278606,p.G512R|ENST00000536626,p.G512R|uc002wpo.3,p.G651R|uc010zrn.2,p.G512R|ENST00000544874,p.G512R|uc010zro.2,p.G512R|uc002wpp.3,p.G526R|NM_001195,p.G651R|ENST00000377868,p.G526R|ENST00000377873,p.G651R|NM_001161705,p.G526R|NM_001278608,p.G512R|NM_001278607,p.G540R protein_coding, processed_transcript uc010zro.2 nonsynonymous SNV exon10 c.G1534A p.G512R YEETAVIVETMIGKTKSDKKKSGEK YEETAVIVETMIRKTKSDKKKSGEK 3.0 6.0 - - 4189_20:17474766-17474766 C>T_YEETAVIVETMIRKTKSDKKKSGEK 0.0 12:77417923-77417923 G>A 1.0 3466 MELANOMA - - - - E2F7 uc001sym.4,p.R870C|ENST00000322886,p.R870C|NM_203394,p.R870C retained_intron, protein_coding, nonsense_mediated_decay uc001sym.4 nonsynonymous SNV exon13 c.C2608T p.R870C VPVTPKSIQRTHRETFFKTPGSLGD VPVTPKSIQRTHCETFFKTPGSLGD 6.0 9.0 - - 3466_12:77417923-77417923 G>A_VPVTPKSIQRTHCETFFKTPGSLGD 0.0 2:163374650-163374650 T>G 0.0 4196 COLORECTAL - - - - KCNH7 NM_173162,p.K161T|uc002uch.2,p.K161T|uc002uci.3,p.K161T|NM_033272,p.K161T|ENST00000328032,p.K161T|ENST00000332142,p.K161T protein_coding, processed_transcript uc002uci.3 nonsynonymous SNV exon4 c.A482C p.K161T PIKTVNRKFFGFKFPGLRVLTYRKQ PIKTVNRKFFGFTFPGLRVLTYRKQ 3.0 5.0 - - 4196_2:163374650-163374650 T>G_PIKTVNRKFFGFTFPGLRVLTYRKQ 0.0 1:32119545-32119545 C>T 1.0 4071 COLORECTAL - - - - COL16A1 ENST00000373672,p.R1486K|ENST00000271069,p.R1486K|NM_001856,p.R1486K|uc001btk.1,p.R1486K|uc001btj.1,p.R1284K retained_intron, protein_coding, processed_transcript uc001btk.1 nonsynonymous SNV exon69 c.G4457A p.R1486K RPGPPGKDGAPGRPGAPGSPGLPGQ RPGPPGKDGAPGKPGAPGSPGLPGQ 8.0 8.0 - - 4071_1:32119545-32119545 C>T_RPGPPGKDGAPGKPGAPGSPGLPGQ 0.0 1:118582004-118582004 T>C 1.0 4281 COLORECTAL - - - - SPAG17 ENST00000336338,p.D1077G|uc001ehk.2,p.D1077G|NM_206996,p.D1077G protein_coding, processed_transcript uc001ehk.2 nonsynonymous SNV exon23 c.A3230G p.D1077G VKDNHNFMIHLNDPKEIVKKEEKGD VKDNHNFMIHLNGPKEIVKKEEKGD 4.0 8.0 - - 4281_1:118582004-118582004 T>C_VKDNHNFMIHLNGPKEIVKKEEKGD 0.0 15:39874718-39874718 G>A 1.0 3466 MELANOMA - - - - THBS1 uc001zkh.3,p.S131N|NM_003246,p.S131N|ENST00000260356,p.S131N retained_intron, protein_coding uc001zkh.3 nonsynonymous SNV exon3 c.G392A p.S131N VVSNGKAGTLDLSLTVQGKQHVVSV VVSNGKAGTLDLNLTVQGKQHVVSV 10.0 1.0 - - 3466_15:39874718-39874718 G>A_VVSNGKAGTLDLNLTVQGKQHVVSV 0.0 2:167056206-167056206 C>G 0.0 4258 ENDOMETRIAL - - - - SCN9A ENST00000303354,p.G1649A|ENST00000409672,p.G1637A|ENST00000375387,p.G1649A|NM_002977,p.G1637A|ENST00000409435,p.G1648A|uc010fpl.3,p.G1637A retained_intron, protein_coding uc010fpl.3 nonsynonymous SNV exon27 c.G4910C p.G1637A ALMMSLPALFNIGLLLFLVMFIYAI ALMMSLPALFNIALLLFLVMFIYAI 3.0 7.0 - - 4258_2:167056206-167056206 C>G_ALMMSLPALFNIALLLFLVMFIYAI 0.0 16:24801460-24801460 G>A 1.0 3713 MELANOMA - - - - TNRC6A uc002dmm.3,p.M499I|ENST00000315183,p.M499I|NM_014494,p.M499I|uc002dmn.3,p.M246I|uc002dmo.3,p.M246I|ENST00000395799,p.M499I|uc010bxs.3,p.M246I|uc010vcc.1,p.M246I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vcc.1 nonsynonymous SNV exon1 c.G738A p.M246I TMNHPQMQAPSGMNGTSLSHLSNGE TMNHPQMQAPSGINGTSLSHLSNGE 9.0 7.0 - - 3713_16:24801460-24801460 G>A_TMNHPQMQAPSGINGTSLSHLSNGE 0.0 22:39078045-39078045 C>T 1.0 3795 MELANOMA - - - - TOMM22 ENST00000216034,p.P21L|NM_020243,p.P21L|uc003awe.3,p.P21L retained_intron, protein_coding uc003awe.3 nonsynonymous SNV exon1 c.C62T p.P21L GAGEPQSPDELLPKGDAEKPEEELE GAGEPQSPDELLLKGDAEKPEEELE 9.0 7.0 - - 3795_22:39078045-39078045 C>T_GAGEPQSPDELLLKGDAEKPEEELE 0.0 4:49034612-49034612 T>A 1.0 4126 NSCLC - - ID=COSM734253;OCCURENCE=1(lung) - CWH43 ENST00000226432,p.V513E|NM_025087,p.V513E|ENST00000513409,p.V486E|uc011bzl.2,p.V486E|NM_001286791,p.V486E|uc003gyv.3,p.V513E retained_intron, protein_coding, nonsense_mediated_decay uc011bzl.2 nonsynonymous SNV exon12 c.T1457A p.V486E TWGIMALSRYPIVKSEHHLLPSPEG TWGIMALSRYPIEKSEHHLLPSPEG 5.0 3.0 - - 4126_4:49034612-49034612 T>A_TWGIMALSRYPIEKSEHHLLPSPEG 0.0 19:50176997-50176997 T>C 1.0 4180 BREAST - - - 2 BCL2L12 uc031rlz.1,p.I258T|NM_001282521,p.I182T|uc031rlv.1,p.I182T|NM_001282519,p.I258T|uc031rma.1,p.I211T|NM_001282520,p.I211T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc031rma.1 nonsynonymous SNV exon5 c.T632C p.I211T HPGCFTRGLELAIGLSSFSEAATR HPGCFTRGLELATGLSSFSEAATR 9.0 6.0 - - 4180_19:50176997-50176997 T>C_HPGCFTRGLELATGLSSFSEAATR 0.0 X:148585764-148585764 C>G 0.0 4129 NSCLC - - - - IDS uc011mxh.2,p.G55R|uc011mxj.2,p.G55R|NM_006123,p.G55R|ENST00000466323,p.G55R|ENST00000370443,p.G55R|ENST00000340855,p.G55R|NM_000202,p.G55R|ENST00000521702,p.G55R|ENST00000428056,p.G55R|ENST00000370441,p.G55R|uc011mxe.2,p.G55R protein_coding, processed_transcript, nonsense_mediated_decay uc011mxj.2 nonsynonymous SNV exon2 c.G163C p.G55R IVDDLRPSLGCYGDKLVRSPNIDQL IVDDLRPSLGCYRDKLVRSPNIDQL 8.0 6.0 - - 4129_X:148585764-148585764 C>G_IVDDLRPSLGCYRDKLVRSPNIDQL 0.0 1:156235763-156235763 G>A 1.0 4126 NSCLC - - - - SMG5 NM_015327,p.P555L|uc001foc.4,p.P555L|ENST00000361813,p.P555L protein_coding, processed_transcript uc001foc.4 nonsynonymous SNV exon12 c.C1664T p.P555L RGRSEAPDSLNGPLGPSEASIASNL RGRSEAPDSLNGLLGPSEASIASNL 10.0 2.0 - - 4126_1:156235763-156235763 G>A_RGRSEAPDSLNGLLGPSEASIASNL 0.0 4:2242196-2242196 T>C 1.0 2098 MELANOMA - - - - HAUS3 ENST00000443786,p.T160A|uc003ges.1,p.T160A|uc003get.1,p.T160A|ENST00000506763,p.T160A|NM_024511,p.T160A|ENST00000243706,p.T160A|uc011bvj.1,p.T160A protein_coding uc011bvj.1 nonsynonymous SNV exon2 c.A478G p.T160A LKQSQGILNAMITKISNELQALTDE LKQSQGILNAMIAKISNELQALTDE 7.0 7.0 CD8 - 2098_4:2242196-2242196 T>C_LKQSQGILNAMIAKISNELQALTDE 1.0 7:142460807-142460807 G>A 0.0 4301 MELANOMA - - - - PRSS1 uc003wak.2,p.G227E|ENST00000486171,p.G241E|ENST00000311737,p.G227E|NM_002769,p.G227E|uc003wam.2,p.G167E retained_intron, protein_coding uc003wam.2 nonsynonymous SNV exon3 c.G500A p.G167E SWGDGCAQKNKPGVYTKVYNYVKWI SWGDGCAQKNKPEVYTKVYNYVKWI 4.0 10.0 - - 4301_7:142460807-142460807 G>A_SWGDGCAQKNKPEVYTKVYNYVKWI 0.0 19:55993135-55993135 G>T 1.0 4110 BILE DUCT - - - - ZNF628 ENST00000391718,p.R188L|uc002qld.3,p.R192L|ENST00000598519,p.R192L|NM_033113,p.R192L protein_coding uc002qld.3 nonsynonymous SNV exon3 c.G575T p.R192L VCGKSFTQSTNLRQHQRVHTGERPF VCGKSFTQSTNLLQHQRVHTGERPF 5.0 7.0 - - 4110_19:55993135-55993135 G>T_VCGKSFTQSTNLLQHQRVHTGERPF 0.0 1:29016692-29016692 G>A 1.0 3903 MELANOMA - - - - GMEB1 uc001bra.3,p.G79R|ENST00000373816,p.G69R|NM_006582,p.G79R|uc001bqz.3,p.G69R|uc001brb.3,p.G69R|NM_024482,p.G69R|ENST00000294409,p.G79R|ENST00000361872,p.G69R protein_coding, processed_transcript uc001brb.3 nonsynonymous SNV exon3 c.G205A p.G69R AVETHTIHKIEEGIDTGTIEANEDM AVETHTIHKIEERIDTGTIEANEDM 6.0 2.0 - - 3903_1:29016692-29016692 G>A_AVETHTIHKIEERIDTGTIEANEDM 0.0 17:34001228-34001228 G>A 1.0 4326 BREAST - - - - AP2B1 uc002hjs.3,p.E667K|uc002hjq.3,p.E738K|ENST00000262325,p.E724K|NM_001030006,p.E738K|ENST00000537622,p.E738K|ENST00000589344,p.E738K|ENST00000592545,p.E700K|ENST00000538556,p.E667K|uc010wci.2,p.E700K|uc002hjr.3,p.E724K|uc002hjt.3,p.E738K|ENST00000312678,p.E738K|uc010ctv.3,p.E738K|uc010wcj.2,p.E475K|NM_001282,p.E724K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wcj.2 nonsynonymous SNV exon13 c.G1423A p.E475K AVWLPAVKAKGLEISGTFTHRQGHI AVWLPAVKAKGLKISGTFTHRQGHI 9.0 4.0 - - 4326_17:34001228-34001228 G>A_AVWLPAVKAKGLKISGTFTHRQGHI 0.0 5:140181362-140181362 C>T 1.0 3879 MELANOMA - - - - PCDHA3 ENST00000532566,p.L194F|NM_031497,p.L194F|uc011czz.2,p.L194F|NM_018906,p.L194F|ENST00000522353,p.L194F|uc003lhf.2,p.L194F protein_coding uc011czz.2 nonsynonymous SNV exon1 c.C580T p.L194F VKRNDEEIKSLGLVLKKNLNREDTP VKRNDEEIKSLGFVLKKNLNREDTP 2.0 6.0 - - 3879_5:140181362-140181362 C>T_VKRNDEEIKSLGFVLKKNLNREDTP 0.0 14:52957681-52957681 G>A 1.0 3879 MELANOMA - - - - TXNDC16 ENST00000281741,p.L267F|uc001wzs.3,p.L267F|NM_020784,p.L267F|uc010tqu.2,p.L262F|NM_001160047,p.L262F protein_coding, processed_transcript, nonsense_mediated_decay uc010tqu.2 nonsynonymous SNV exon10 c.C784T p.L262F VAEDPQQVSTVHLQLGLPLVFIVSQ VAEDPQQVSTVHFQLGLPLVFIVSQ 6.0 6.0 - - 3879_14:52957681-52957681 G>A_VAEDPQQVSTVHFQLGLPLVFIVSQ 0.0 3:15686033-15686033 C>T 1.0 3678 MELANOMA - - - - BTD NM_001281725,p.P204S|uc011avw.2,p.P226S|ENST00000449107,p.P226S|ENST00000303498,p.P224S|ENST00000437172,p.P226S|uc011avv.2,p.P226S|NM_001281724,p.P226S|NM_000060,p.P224S|uc003cah.3,p.P224S|ENST00000436193,p.P204S|ENST00000383778,p.P204S|NM_001281723,p.P226S|uc011avx.2,p.P204S protein_coding, processed_transcript, nonsense_mediated_decay uc011avx.2 nonsynonymous SNV exon4 c.C610T p.P204S KHNLYFEAAFDVPLKVDLITFDTPF KHNLYFEAAFDVSLKVDLITFDTPF 8.0 8.0 - - 3678_3:15686033-15686033 C>T_KHNLYFEAAFDVSLKVDLITFDTPF 0.0 6:56510958-56510958 T>A 1.0 2556 MELANOMA - - - - DST uc021zaz.2,p.Q315L|ENST00000449297,p.Q493L|NM_001144770,p.Q355L|ENST00000520645,p.Q355L|uc003pde.2,p.Q431L|NM_183380,p.Q315L|ENST00000370754,p.Q493L|ENST00000421834,p.Q315L|uc021zay.2,p.Q355L|uc011dxl.1,p.Q344L|ENST00000312431,p.Q315L|NM_001144769,p.Q493L|uc021zba.2,p.Q493L|ENST00000370788,p.Q315L|ENST00000361203,p.Q315L|ENST00000370769,p.Q315L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021zba.2 nonsynonymous SNV exon13 c.A1478T p.Q493L PVELKALYNQYLQFKETEIPPKETE PVELKALYNQYLLFKETEIPPKETE 10.0 6.0 - - 2556_6:56510958-56510958 T>A_PVELKALYNQYLLFKETEIPPKETE 0.0 17:54431369-54431369 G>T 0.0 4240 BREAST - - - - ANKFN1 ENST00000566473,p.R191M|NM_153228,p.R191M|uc002iun.1,p.R191M|ENST00000318698,p.R191M retained_intron, protein_coding, processed_transcript uc002iun.1 nonsynonymous SNV exon5 c.G572T p.R191M DIAIMTNNVPIARILLRTGARESPH DIAIMTNNVPIAMILLRTGARESPH 3.0 8.0 - - 4240_17:54431369-54431369 G>T_DIAIMTNNVPIAMILLRTGARESPH 0.0 11:17574965-17574965 C>A 0.0 4259 COLORECTAL - - - - OTOG NM_001277269,p.H159N|ENST00000399397,p.H86N|uc031pzc.1,p.H159N|ENST00000399391,p.H159N|NM_001292063,p.H147N retained_intron, protein_coding, processed_transcript uc031pzc.1 nonsynonymous SNV exon5 c.C475A p.H159N ERDSICRAWGQHHVETFDGLYYYLS ERDSICRAWGQHNVETFDGLYYYLS 4.0 7.0 - - 4259_11:17574965-17574965 C>A_ERDSICRAWGQHNVETFDGLYYYLS 0.0 20:50238618-50238618 G>A 1.0 2556 MELANOMA - - - - ATP9A uc002xwg.1,p.R704W|uc010gih.1,p.R568W|NM_006045,p.R704W|ENST00000338821,p.R704W|ENST00000311637,p.R568W|ENST00000402822,p.R583W protein_coding, processed_transcript uc010gih.1 nonsynonymous SNV exon14 c.C1702T p.R568W HLVTRNQDIHVFRLVTNRGEAHLEL HLVTRNQDIHVFWLVTNRGEAHLEL 8.0 7.0 - - 2556_20:50238618-50238618 G>A_HLVTRNQDIHVFWLVTNRGEAHLEL 0.0 17:81006583-81006583 C>T 1.0 2556 MELANOMA - - - - B3GNTL1 ENST00000320865,p.G47S|NM_001009905,p.G47S|uc002kgg.1,p.G47S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002kgg.1 nonsynonymous SNV exon2 c.G139A p.G47S ECLRSVLQQDFEGTMELSVFNDASK ECLRSVLQQDFESTMELSVFNDASK 6.0 7.0 - - 2556_17:81006583-81006583 C>T_ECLRSVLQQDFESTMELSVFNDASK 0.0 2:207173160-207173160 C>T 0.0 4235 COLORECTAL 0.01 - - - ZDBF2 uc002vbp.2,p.A1303V|NM_001285549,p.A1301V|ENST00000374423,p.A1303V|NM_020923,p.A1303V|uc031rqy.1,p.A1301V protein_coding uc031rqy.1 nonsynonymous SNV exon7 c.C3902T p.A1301V EPLQSVTNKIPGANKEINLLREEHV EPLQSVTNKIPGVNKEINLLREEHV 3.0 5.0 - - 4235_2:207173160-207173160 C>T_EPLQSVTNKIPGVNKEINLLREEHV 0.0 1:60106962-60106962 G>A 0.0 3466 MELANOMA - - - - FGGY ENST00000371218,p.G411E|uc009wac.3,p.G411E|NM_001113411,p.G411E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc009wac.3 nonsynonymous SNV exon12 c.G1232A p.G411E LADLTLKGMRTTGYLYIPALAALHS LADLTLKGMRTTEYLYIPALAALHS 4.0 7.0 - - 3466_1:60106962-60106962 G>A_LADLTLKGMRTTEYLYIPALAALHS 0.0 8:13424951-13424951 C>T 0.0 4284 COLORECTAL - - - - C8orf48 uc003wwp.3,p.H151Y|ENST00000297324,p.H151Y|NM_001007090,p.H151Y protein_coding uc003wwp.3 nonsynonymous SNV exon1 c.C451T p.H151Y SKKKTSSRHKKLHLGLDVEASERDA SKKKTSSRHKKLYLGLDVEASERDA 2.0 5.0 - - 4284_8:13424951-13424951 C>T_SKKKTSSRHKKLYLGLDVEASERDA 0.0 2:174227970-174227970 G>C 1.0 4284 COLORECTAL - - - - CDCA7 ENST00000410019,p.R13P|uc010zek.1,p.R13P retained_intron, protein_coding, nonsense_mediated_decay uc010zek.1 nonsynonymous SNV exon2 c.G38C p.R13P MDARRVPRLQSVREGCRTRSQCRHS MDARRVPRLQSVPEGCRTRSQCRHS 10.0 7.0 - - 4284_2:174227970-174227970 G>C_MDARRVPRLQSVPEGCRTRSQCRHS 0.0 9:32633592-32633592 G>C 0.0 3775 CERVICAL - - - - TAF1L NM_153809,p.I662M|ENST00000242310,p.I662M|uc003zrg.1,p.I662M protein_coding uc003zrg.1 nonsynonymous SNV exon1 c.C1986G p.I662M PGPHSVQPLLKHIKKKAKMREQERQ PGPHSVQPLLKHMKKKAKMREQERQ 1.0 6.0 - - 3775_9:32633592-32633592 G>C_PGPHSVQPLLKHMKKKAKMREQERQ 0.0 10:58119539-58119539 T>G 0.0 4326 BREAST - - - - ZWINT ENST00000395405,p.K111T|NM_007057,p.K111T|uc001jjx.1,p.K111T|NM_001005413,p.K111T|uc001jjy.1,p.K111T|ENST00000373944,p.K111T|NM_032997,p.K111T|uc001jka.1,p.K111T|ENST00000361148,p.K111T protein_coding, processed_transcript uc001jka.1 nonsynonymous SNV exon4 c.A332C p.K111T LKATYREHVEAIKIGLTKALTQMEE LKATYREHVEAITIGLTKALTQMEE 7.0 2.0 - - 4326_10:58119539-58119539 T>G_LKATYREHVEAITIGLTKALTQMEE 0.0 15:85400580-85400580 C>T 0.0 3903 MELANOMA - - - - ALPK3 ENST00000258888,p.P1073S|uc002ble.3,p.P1073S|NM_020778,p.P1073S retained_intron, protein_coding uc002ble.3 nonsynonymous SNV exon6 c.C3217T p.P1073S GLSQEVPTMPSLPGTGLTASPKAGP GLSQEVPTMPSLSGTGLTASPKAGP 3.0 2.0 - - 3903_15:85400580-85400580 C>T_GLSQEVPTMPSLSGTGLTASPKAGP 0.0 4:162376205-162376205 C>A 0.0 4110 BILE DUCT - - - - FSTL5 NM_001128427,p.V597L|uc003iqi.4,p.V597L|NM_020116,p.V598L|ENST00000536695,p.V597L|ENST00000427802,p.V588L|NM_001128428,p.V588L|ENST00000306100,p.V598L|ENST00000379164,p.V597L|uc010iqv.4,p.V588L|uc003iqh.4,p.V598L protein_coding, processed_transcript uc010iqv.4 nonsynonymous SNV exon14 c.G1762T p.V588L IHTQPVGKQFDRVDDFFIPTTTLII IHTQPVGKQFDRLDDFFIPTTTLII 1.0 10.0 - - 4110_4:162376205-162376205 C>A_IHTQPVGKQFDRLDDFFIPTTTLII 0.0 10:45984856-45984856 T>C 1.0 4186 BREAST - - - - MARCH8 ENST00000319836,p.T38A|ENST00000453980,p.T38A|ENST00000395769,p.T38A|uc001jck.1,p.T38A|NM_001282866,p.T38A|ENST00000453424,p.T38A|NM_145021,p.T38A|uc001jch.2,p.T38A|uc001jci.1,p.T38A|NM_001002266,p.T38A|uc001jcj.1,p.T38A|ENST00000395771,p.T38A protein_coding, processed_transcript uc001jck.1 nonsynonymous SNV exon3 c.A112G p.T38A TKEKEREEQNEKTLGHFMSHSSNIS TKEKEREEQNEKALGHFMSHSSNIS 8.0 7.0 - - 4186_10:45984856-45984856 T>C_TKEKEREEQNEKALGHFMSHSSNIS 0.0 4:177071010-177071010 C>A 0.0 4252 COLORECTAL - - - - WDR17 ENST00000508596,p.D650E|ENST00000507824,p.D657E|NM_170710,p.D674E|uc003ium.4,p.D650E|NM_181265,p.D650E|ENST00000393643,p.D650E|ENST00000280190,p.D674E|uc003iuj.3,p.D674E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003ium.4 nonsynonymous SNV exon14 c.C1950A p.D650E PSRPFTMASCSRDSTVRLWSLTALV PSRPFTMASCSRESTVRLWSLTALV 3.0 10.0 - - 4252_4:177071010-177071010 C>A_PSRPFTMASCSRESTVRLWSLTALV 0.0 6:110636575-110636575 C>T 0.0 4266 COLORECTAL - - - - METTL24 ENST00000338882,p.R176H|NM_001123364,p.R176H|uc010kdu.1,p.R176H protein_coding, processed_transcript uc010kdu.1 nonsynonymous SNV exon3 c.G527A p.R176H CLDDRFNLAHQIRNKQCRLYSLGLG CLDDRFNLAHQIHNKQCRLYSLGLG 4.0 4.0 - - 4266_6:110636575-110636575 C>T_CLDDRFNLAHQIHNKQCRLYSLGLG 0.0 6:170176735-170176735 C>T 1.0 3713 MELANOMA - - - - ERMARD uc011ehb.1,p.R443C|uc003qxi.1,p.R217C|ENST00000366773,p.R569C|ENST00000392095,p.R443C|ENST00000588451,p.R433C|NM_018341,p.R569C|NM_001278532,p.R443C|uc003qxg.1,p.R569C retained_intron, protein_coding, nonsense_mediated_decay uc011ehb.1 nonsynonymous SNV exon15 c.C1327T p.R443C RHRQWVERTLRSRQRQNYLRMWSSI RHRQWVERTLRSCQRQNYLRMWSSI 4.0 2.0 - - 3713_6:170176735-170176735 C>T_RHRQWVERTLRSCQRQNYLRMWSSI 0.0 18:9257295-9257295 C>T 1.0 3713 MELANOMA - - - - ANKRD12 NM_015208,p.P1344S|uc002knx.3,p.P1321S|uc002knw.3,p.P1321S|ENST00000383440,p.P1321S|NM_001083625,p.P1321S|uc010dkx.1,p.P1051S|ENST00000400020,p.P1321S|NM_001204056,p.P1321S|ENST00000262126,p.P1344S|uc002knv.3,p.P1344S protein_coding, processed_transcript, nonsense_mediated_decay uc010dkx.1 nonsynonymous SNV exon4 c.C3151T p.P1051S QGSLLTVPGDTSPSPKPEVFSNVPE QGSLLTVPGDTSSSPKPEVFSNVPE 8.0 2.0 - - 3713_18:9257295-9257295 C>T_QGSLLTVPGDTSSSPKPEVFSNVPE 0.0 15:42364548-42364548 G>A 0.0 4235 COLORECTAL - - - - PLA2G4D uc001zox.3,p.R454W|NM_178034,p.R454W|ENST00000290472,p.R454W retained_intron, protein_coding uc001zox.3 nonsynonymous SNV exon14 c.C1360T p.R454W DQKLSGQRAALERGQNPLPLYLSLN DQKLSGQRAALEWGQNPLPLYLSLN 2.0 10.0 - - 4235_15:42364548-42364548 G>A_DQKLSGQRAALEWGQNPLPLYLSLN 0.0 1:21900226-21900226 G>A 0.0 4266 COLORECTAL - - - - ALPL ENST00000374840,p.E311K|NM_001177520,p.E234K|ENST00000540617,p.E256K|uc010odn.2,p.E259K|uc010odo.2,p.E256K|uc001beu.4,p.E311K|NM_000478,p.E311K|ENST00000539907,p.E234K|NM_001127501,p.E256K|ENST00000374832,p.E311K|ENST00000425315,p.E311K|uc010odp.2,p.E234K|uc001bet.3,p.E311K protein_coding, processed_transcript uc010odp.2 nonsynonymous SNV exon7 c.G700A p.E234K LNRNNVTDPSLSEMVVVAIQILRKN LNRNNVTDPSLSKMVVVAIQILRKN 6.0 9.0 - - 4266_1:21900226-21900226 G>A_LNRNNVTDPSLSKMVVVAIQILRKN 0.0 4:73013479-73013479 G>A 0.0 4298 COLORECTAL - - - - NPFFR2 uc003hgg.2,p.E507K|uc010iig.2,p.E289K|uc003hgh.2,p.E405K|ENST00000308744,p.E507K|NM_053036,p.E405K|NM_001144756,p.E408K|NM_004885,p.E507K|ENST00000358749,p.E405K|ENST00000395999,p.E408K|uc003hgi.2,p.E408K protein_coding, processed_transcript uc010iig.2 nonsynonymous SNV exon3 c.G865A p.E289K LLYRKSAEKPQQELVMEELKETTNS LLYRKSAEKPQQKLVMEELKETTNS 3.0 8.0 - - 4298_4:73013479-73013479 G>A_LLYRKSAEKPQQKLVMEELKETTNS 0.0 8:107670383-107670383 C>T 1.0 4110 BILE DUCT - - - - OXR1 ENST00000435082,p.P57S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000435082 nonsynonymous SNV exon1 c.C169T p.P57S QGDLGCGSPPHRPPAPSSPEGPDYY QGDLGCGSPPHRSPAPSSPEGPDYY 8.0 7.0 - - 4110_8:107670383-107670383 C>T_QGDLGCGSPPHRSPAPSSPEGPDYY 0.0 6:36464515-36464515 G>A 1.0 3879 MELANOMA - - - - STK38 uc003omh.3,p.P414S|uc003omg.3,p.P414S|ENST00000229812,p.P414S|NM_007271,p.P414S|uc003omi.3,p.P414S protein_coding uc003omi.3 nonsynonymous SNV exon13 c.C1240T p.P414S KSIDDTSNFDEFPESDILKPTVATS KSIDDTSNFDEFSESDILKPTVATS 8.0 9.0 - - 3879_6:36464515-36464515 G>A_KSIDDTSNFDEFSESDILKPTVATS 0.0 7:75890723-75890723 G>A 0.0 4275 COLORECTAL - - ID=COSM1452099;OCCURENCE=2(large_intestine) - SRRM3 uc010ldi.2,p.R210H|NM_001291831,p.R210H|ENST00000388802,p.R210H|ENST00000326382,p.R210H retained_intron, protein_coding, processed_transcript uc010ldi.2 nonsynonymous SNV exon7 c.G629A p.R210H PLRKKKKSVKKHRRDRSDSGSRRKR PLRKKKKSVKKHHRDRSDSGSRRKR 5.0 5.0 - - 4275_7:75890723-75890723 G>A_PLRKKKKSVKKHHRDRSDSGSRRKR 0.0 6:79657468-79657468 G>A 1.0 4258 ENDOMETRIAL - - - - PHIP uc003pio.4,p.P246S|uc003piq.3,p.P384S|ENST00000275034,p.P1360S|NM_017934,p.P1360S|uc003pir.3,p.P1360S|uc011dyp.2,p.P1359S protein_coding, processed_transcript uc011dyp.2 nonsynonymous SNV exon36 c.C4075T p.P1359S LEYPDYRDIIDTPMDFATVRETLEA LEYPDYRDIIDTSMDFATVRETLEA 9.0 7.0 - - 4258_6:79657468-79657468 G>A_LEYPDYRDIIDTSMDFATVRETLEA 0.0 11:68192754-68192754 C>A 1.0 4234 NSCLC - - - - LRP5 ENST00000294304,p.L1141M|uc001ont.3,p.L1141M|NM_001291902,p.L560M|NM_002335,p.L1141M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001ont.3 nonsynonymous SNV exon15 c.C3421A p.L1141M VDADLKRIESCDLSGANRLTLEDAN VDADLKRIESCDMSGANRLTLEDAN 10.0 6.0 - - 4234_11:68192754-68192754 C>A_VDADLKRIESCDMSGANRLTLEDAN 0.0 12:56825281-56825281 C>G 1.0 4240 BREAST - - - - TIMELESS ENST00000553532,p.K265N|uc001slg.2,p.K264N|ENST00000229201,p.K264N|ENST00000554616,p.K265N|NM_003920,p.K265N|uc001slf.2,p.K265N retained_intron, protein_coding uc001slg.2 nonsynonymous SNV exon8 c.G792C p.K264N LEVLRQREMAEKKTRALQRGNRHSR LEVLRQREMAEKNTRALQRGNRHSR 9.0 8.0 - - 4240_12:56825281-56825281 C>G_LEVLRQREMAEKNTRALQRGNRHSR 0.0 18:47376024-47376024 T>G 1.0 4246 COLORECTAL - - - - MYO5B ENST00000285039,p.K1410Q|ENST00000324581,p.K525Q|uc002leb.2,p.K1410Q|NM_001080467,p.K1410Q|uc002lea.2,p.K525Q retained_intron, protein_coding, processed_transcript uc002leb.2 nonsynonymous SNV exon32 c.A4228C p.K1410Q EISRLTNENLDLKELVEKLEKNERK EISRLTNENLDLQELVEKLEKNERK 9.0 10.0 CD8 - 4246_18:47376024-47376024 T>G_EISRLTNENLDLQELVEKLEKNERK 1.0 1:245850920-245850920 C>G 0.0 4346 COLORECTAL - - - - KIF26B uc001ibg.1,p.S1163R|uc001ibh.1,p.S787R|NM_018012,p.S1545R|ENST00000366518,p.S1164R|ENST00000407071,p.S1545R|uc001ibf.1,p.S1545R retained_intron, protein_coding, processed_transcript uc001ibh.1 nonsynonymous SNV exon3 c.C2361G p.S787R KSSSLPRAFQKASRQEEPDSLSYYC KSSSLPRAFQKARRQEEPDSLSYYC 3.0 5.0 - - 4346_1:245850920-245850920 C>G_KSSSLPRAFQKARRQEEPDSLSYYC 0.0 5:140308192-140308192 G>T 1.0 4126 NSCLC - - - - PCDHAC1 ENST00000409700,p.R572L|NM_018898,p.R572L|uc003lig.1,p.R572L|uc003lih.2,p.R572L|NM_031882,p.R572L|ENST00000253807,p.R572L protein_coding uc003lih.2 nonsynonymous SNV exon1 c.G1715T p.R572L PRNGSVPVEIVPRSARTGHLVTKVV PRNGSVPVEIVPLSARTGHLVTKVV 4.0 2.0 - - 4126_5:140308192-140308192 G>T_PRNGSVPVEIVPLSARTGHLVTKVV 0.0 2:99012481-99012481 G>A 0.0 4275 COLORECTAL - - ID=COSM1580002;OCCURENCE=1(central_nervous_system) - CNGA3 ENST00000393504,p.R283Q|ENST00000436404,p.R265Q|NM_001298,p.R283Q|uc002syu.3,p.R265Q|uc002syt.3,p.R283Q|NM_001079878,p.R265Q|ENST00000272602,p.R283Q|uc010fij.3,p.R287Q|ENST00000409937,p.R287Q retained_intron, protein_coding uc010fij.3 nonsynonymous SNV exon8 c.G860A p.R287Q PEVRFNRLLKFSRLFEFFDRTETRT PEVRFNRLLKFSQLFEFFDRTETRT 1.0 8.0 - - 4275_2:99012481-99012481 G>A_PEVRFNRLLKFSQLFEFFDRTETRT 0.0 2:219611745-219611745 C>T 1.0 4259 COLORECTAL - - - - TTLL4 uc010zkl.1,p.S500L|ENST00000392102,p.S665L|ENST00000258398,p.S665L|NM_014640,p.S665L|ENST00000457313,p.S500L|uc002viy.3,p.S665L retained_intron, protein_coding, nonsense_mediated_decay uc010zkl.1 nonsynonymous SNV exon8 c.C1499T p.S500L IREHQKLNHFPGSFQIGRKDRLWRN IREHQKLNHFPGLFQIGRKDRLWRN 9.0 10.0 - - 4259_2:219611745-219611745 C>T_IREHQKLNHFPGLFQIGRKDRLWRN 0.0 4:47578895-47578895 G>T 1.0 4326 BREAST - - - - ATP10D NM_020453,p.A1158S|uc003gxk.1,p.A1158S|uc003gxl.1,p.A406S|ENST00000273859,p.A1158S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003gxl.1 nonsynonymous SNV exon12 c.G1216T p.A406S WVLIFFNLLFTSAPPVIYGVLEKDV WVLIFFNLLFTSSPPVIYGVLEKDV 9.0 2.0 - - 4326_4:47578895-47578895 G>T_WVLIFFNLLFTSSPPVIYGVLEKDV 0.0 3:192078301-192078301 T>C 0.0 4266 COLORECTAL - - - - FGF12 uc003fsx.3,p.R76G|NM_021032,p.R76G|ENST00000454309,p.R76G retained_intron, protein_coding, processed_transcript uc003fsx.3 nonsynonymous SNV exon2 c.A226G p.R76G RRPEPQLKGIVTRLFSQQGYFLQMH RRPEPQLKGIVTGLFSQQGYFLQMH 4.0 3.0 - - 4266_3:192078301-192078301 T>C_RRPEPQLKGIVTGLFSQQGYFLQMH 0.0 21:47546145-47546145 T>C 1.0 3713 MELANOMA - - - - COL6A2 ENST00000357838,p.C806R|NM_001849,p.C806R|ENST00000310645,p.C806R|ENST00000300527,p.C806R|uc002zia.1,p.C806R|NM_058174,p.C806R|NM_058175,p.C806R|ENST00000409416,p.C806R|ENST00000397763,p.C806R|uc002zhy.1,p.C806R|uc002zhz.1,p.C806R retained_intron, protein_coding, processed_transcript uc002zia.1 nonsynonymous SNV exon26 c.T2416C p.C806R AEKFIDDMEDVLCPDPQIVCPDLPC AEKFIDDMEDVLRPDPQIVCPDLPC 10.0 2.0 - - 3713_21:47546145-47546145 T>C_AEKFIDDMEDVLRPDPQIVCPDLPC 0.0 6:99365275-99365275 C>A 1.0 3713 MELANOMA - - - - FBXL4 ENST00000229971,p.G278V|ENST00000369244,p.G278V|NM_012160,p.G278V|uc003ppg.1,p.G278V|NM_001278716,p.G278V|uc003ppf.1,p.G278V protein_coding uc003ppg.1 nonsynonymous SNV exon5 c.G833T p.G278V FSSAVLGEGPNNGYFDKLPYELIQL FSSAVLGEGPNNVYFDKLPYELIQL 5.0 4.0 - - 3713_6:99365275-99365275 C>A_FSSAVLGEGPNNVYFDKLPYELIQL 0.0 19:7975437-7975437 T>C 1.0 4000 MELANOMA - - - - MAP2K7 uc002miv.2,p.F183L|NM_145185,p.F183L|ENST00000397979,p.F183L|uc002mit.3,p.F183L|ENST00000397983,p.F199L|uc010xkb.2,p.F183L|ENST00000545011,p.F225L|NM_001297555,p.F199L|ENST00000397981,p.F183L|NM_001297556,p.F183L|uc010dvv.3,p.F58L retained_intron, protein_coding uc010xkb.2 nonsynonymous SNV exon5 c.T547C p.F183L LKSHDCPYIVQCFGTFITNTDVFIA LKSHDCPYIVQCLGTFITNTDVFIA 7.0 9.0 - - 4000_19:7975437-7975437 T>C_LKSHDCPYIVQCLGTFITNTDVFIA 0.0 17:26687593-26687593 A>C 1.0 4258 ENDOMETRIAL - - - - TMEM199 uc010wah.1,p.Q139H|uc002hba.3,p.Q139H|ENST00000292114,p.Q139H|NM_152464,p.Q139H|ENST00000509083,p.Q139H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010wah.1 nonsynonymous SNV exon4 c.A417C p.Q139H TRHGGTLSDLGKQVRSLKALVITIF TRHGGTLSDLGKHVRSLKALVITIF 8.0 7.0 - - 4258_17:26687593-26687593 A>C_TRHGGTLSDLGKHVRSLKALVITIF 0.0 17:1558696-1558696 C>A 1.0 4258 ENDOMETRIAL - - - - PRPF8 uc002fte.3,p.V1979F|ENST00000304992,p.V1979F|NM_006445,p.V1979F|ENST00000572621,p.V1979F retained_intron, protein_coding, processed_transcript uc002fte.3 nonsynonymous SNV exon37 c.G5935T p.V1979F IWPTLTDEEWIKVEVQLKDLILADY IWPTLTDEEWIKFEVQLKDLILADY 10.0 5.0 - - 4258_17:1558696-1558696 C>A_IWPTLTDEEWIKFEVQLKDLILADY 0.0 11:30034119-30034119 G>A 0.0 3795 MELANOMA - - - - KCNA4 uc001msk.3,p.S36F|ENST00000328224,p.S36F|uc021qfi.1,p.S36F|NM_002233,p.S36F protein_coding, processed_transcript uc021qfi.1 nonsynonymous SNV exon1 c.C107T p.S36F QARARERERLAHSRAAAAAAVAAAT QARARERERLAHFRAAAAAAVAAAT 2.0 10.0 - - 3795_11:30034119-30034119 G>A_QARARERERLAHFRAAAAAAVAAAT 0.0 19:11833375-11833375 C>T 1.0 3919 MELANOMA - - - - ZNF823 NM_001080493,p.R325K|ENST00000431998,p.R281K|NM_017507,p.R281K|ENST00000545749,p.R143K|uc002msm.2,p.R325K|NM_001297610,p.R143K|ENST00000341191,p.R325K|uc010xmd.1,p.R143K|uc010dyi.1,p.R281K protein_coding uc010xmd.1 nonsynonymous SNV exon3 c.G428A p.R143K FYHHTSFRRHMIRHTGDGPHKCKIC FYHHTSFRRHMIKHTGDGPHKCKIC 3.0 2.0 - - 3919_19:11833375-11833375 C>T_FYHHTSFRRHMIKHTGDGPHKCKIC 0.0 3:145914466-145914466 G>A 1.0 3713 MELANOMA - - ID=COSM1221235;OCCURENCE=1(large_intestine) - PLSCR4 uc003evu.4,p.R142C|NM_001128304,p.R247C|uc010hva.3,p.R157C|NM_001128306,p.R157C|NM_001128305,p.R247C|uc010huy.3,p.R247C|ENST00000493382,p.R247C|NM_001177304,p.R142C|NM_020353,p.R247C|ENST00000460350,p.R247C|ENST00000446574,p.R247C|ENST00000433593,p.R142C|ENST00000354952,p.R247C|uc003evt.4,p.R247C|ENST00000383083,p.R157C|uc010huz.3,p.R247C retained_intron, protein_coding uc010hva.3 nonsynonymous SNV exon5 c.C469T p.R157C IQNEKKENVMRVRGPCSTYGCGSDS IQNEKKENVMRVCGPCSTYGCGSDS 6.0 3.0 CD8 - 3713_3:145914466-145914466 G>A_IQNEKKENVMRVCGPCSTYGCGSDS 1.0 11:598461-598461 C>T 1.0 3678 MELANOMA - - - - PHRF1 uc009ybz.1,p.P119L|uc001lqe.3,p.P328L|ENST00000534320,p.P328L|ENST00000416188,p.P328L|uc010qwe.2,p.P324L|ENST00000264555,p.P328L|uc010qwd.2,p.P327L|uc010qwc.2,p.P328L|ENST00000413872,p.P327L|NM_020901,p.P328L|ENST00000533464,p.P324L|NM_001286581,p.P328L|NM_001286583,p.P324L|NM_001286582,p.P327L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010qwe.2 nonsynonymous SNV exon9 c.C971T p.P324L VATGLSTAVYQRPLTPRTPARRKRK VATGLSTAVYQRLLTPRTPARRKRK 7.0 7.0 - - 3678_11:598461-598461 C>T_VATGLSTAVYQRLLTPRTPARRKRK 0.0 3:53753793-53753793 C>T 0.0 4186 BREAST - - - 1 CACNA1D NM_001128839,p.S497L|ENST00000422281,p.S497L|ENST00000350061,p.S497L|uc003dgy.5,p.S497L|NM_001128840,p.S497L|uc003dgv.5,p.S497L retained_intron, protein_coding, processed_transcript uc003dgy.5 nonsynonymous SNV exon11 c.C1490T p.S497L NRGCCGSLCQAISKSKLSRRWRRWN NRGCCGSLCQAILKSKLSRRWRRWN 6.0 10.0 - - 4186_3:53753793-53753793 C>T_NRGCCGSLCQAILKSKLSRRWRRWN 0.0 6:132910294-132910294 T>C 0.0 4037 NSCLC - - - - TAAR5 uc003qdk.2,p.R178G|NM_003967,p.R178G|ENST00000258034,p.R178G protein_coding uc003qdk.2 nonsynonymous SNV exon1 c.A532G p.R178G TSLFLYTDVVETRLSQWLEEMPCVG TSLFLYTDVVETGLSQWLEEMPCVG 1.0 10.0 - - 4037_6:132910294-132910294 T>C_TSLFLYTDVVETGLSQWLEEMPCVG 0.0 2:10059834-10059834 A>T 1.0 4126 NSCLC - - - - TAF1B ENST00000263663,p.T484S|ENST00000396242,p.T229S|uc002qzz.3,p.T484S|NM_005680,p.T484S|uc002qzy.4,p.T484S|uc010yja.2,p.T229S|uc010exd.3,p.T229S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010yja.2 nonsynonymous SNV exon14 c.A685T p.T229S PSSFQFNWTEEDTDRTCFHGHSLQG PSSFQFNWTEEDSDRTCFHGHSLQG 5.0 8.0 - - 4126_2:10059834-10059834 A>T_PSSFQFNWTEEDSDRTCFHGHSLQG 0.0 11:68548157-68548157 T>C 1.0 4126 NSCLC - - - - CPT1A ENST00000265641,p.N470S|ENST00000539743,p.N470S|ENST00000540367,p.N470S|uc001oog.4,p.N470S|NM_001031847,p.N470S|NM_001876,p.N470S|uc001oof.4,p.N470S|ENST00000376618,p.N470S protein_coding, processed_transcript, nonsense_mediated_decay uc001oog.4 nonsynonymous SNV exon12 c.A1409G p.N470S TFVVFKNGKMGLNAEHSWADAPIVA TFVVFKNGKMGLSAEHSWADAPIVA 8.0 8.0 - - 4126_11:68548157-68548157 T>C_TFVVFKNGKMGLSAEHSWADAPIVA 0.0 10:70765618-70765618 C>T 1.0 3903 MELANOMA - - - - KIAA1279 ENST00000361983,p.P246S|NM_015634,p.P246S|uc001joy.3,p.P246S protein_coding, processed_transcript uc001joy.3 nonsynonymous SNV exon4 c.C736T p.P246S TLKRQLEHNAYHPIEWAINAATLSQ TLKRQLEHNAYHSIEWAINAATLSQ 7.0 10.0 CD8 - 3903_10:70765618-70765618 C>T_TLKRQLEHNAYHSIEWAINAATLSQ 1.0 1:109465046-109465046 G>C 1.0 4345 COLORECTAL - - - - GPSM2 NM_013296,p.S483T|uc010ove.1,p.S483T|uc010ovc.2,p.S483T|ENST00000264126,p.S483T|ENST00000406462,p.S483T|uc010ovd.2,p.S483T protein_coding uc010ove.1 nonsynonymous SNV exon13 c.G1448C p.S483T IDHRIPNSQRKISADTIGDEGFFDL IDHRIPNSQRKITADTIGDEGFFDL 9.0 8.0 - - 4345_1:109465046-109465046 G>C_IDHRIPNSQRKITADTIGDEGFFDL 0.0 9:5763635-5763637 GAA>- 1.0 4037 NSCLC - - - - RIC1 ENST00000414202,p.870_870del|ENST00000418622,p.791_791del|uc003zjh.4,p.870_870del|uc003zjl.4,p.833_833del|ENST00000381532,p.791_791del|NM_020829,p.870_870del|ENST00000251879,p.870_870del|ENST00000449720,p.754_754del|uc003zji.4,p.870_870del|NM_001206557,p.833_833del|NM_001135920,p.870_870del|uc003zjj.1,p.333_333del retained_intron, protein_coding, nonsense_mediated_decay uc003zjl.4 nonframeshift deletion exon18 c.2497_2499del p.833_833del PHVLELMLHEVLEEEATSREPIPDP PHVLELMLHEVLEEATSREPIPDPL 9.0 8.0 - - 4037_9:5763635-5763637 GAA>-_PHVLELMLHEVLEEATSREPIPDPL 0.0 1:200860714-200860714 G>T 0.0 4316 COLORECTAL - - - - C1orf106 ENST00000367342,p.G16C|uc001gvo.4,p.G30C|NM_018265,p.G30C protein_coding, processed_transcript uc001gvo.4 nonsynonymous SNV exon1 c.G88T p.G30C MPKLNEIPPGRAGRREARGEGRWPG MPKLNEIPPGRACRREARGEGRWPG 7.0 8.0 - - 4316_1:200860714-200860714 G>T_MPKLNEIPPGRACRREARGEGRWPG 0.0 7:87529601-87529601 C>T 1.0 3784 MELANOMA - - - - DBF4 uc011khf.1,p.P16L retained_intron, protein_coding, nonsense_mediated_decay uc011khf.1 nonsynonymous SNV exon8 c.C47T p.P16L KELVVVHKKQEKPCSPFDVDKPSSM KELVVVHKKQEKLCSPFDVDKPSSM 8.0 5.0 - - 3784_7:87529601-87529601 C>T_KELVVVHKKQEKLCSPFDVDKPSSM 0.0 1:40218960-40218960 C>T 1.0 3466 MELANOMA - - - - PPIE uc001cdx.2,p.A196V|NM_006112,p.A280V|uc001cds.2,p.A280V|ENST00000324379,p.A280V|uc010oiy.2,p.A201V|ENST00000372835,p.A229V|uc001cdt.2,p.A214V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010oiy.2 nonsynonymous SNV exon10 c.C602T p.A201V VTEGLDVLRQIEAQGSKDGKPKQKV VTEGLDVLRQIEVQGSKDGKPKQKV 8.0 6.0 - - 3466_1:40218960-40218960 C>T_VTEGLDVLRQIEVQGSKDGKPKQKV 0.0 1:151384205-151384205 G>A 1.0 3713 MELANOMA - - - - POGZ uc021oyq.1,p.H555Y|uc010pdc.2,p.H546Y|uc001eyf.2,p.H564Y|NM_001194938,p.H546Y|ENST00000409503,p.H599Y|ENST00000392723,p.H555Y|uc001eyd.2,p.H608Y|ENST00000491586,p.H564Y|uc010pdd.2,p.H99Y|ENST00000368863,p.H513Y|ENST00000361398,p.H555Y|NM_207171,p.H555Y|NM_015100,p.H608Y|NM_001194937,p.H599Y|uc010pdb.2,p.H599Y|NM_145796,p.H513Y|ENST00000531094,p.H546Y|uc009wmv.2,p.H513Y|ENST00000271715,p.H608Y retained_intron, protein_coding, nonsense_mediated_decay uc021oyq.1 nonsynonymous SNV exon10 c.C1663T p.H555Y QYRSSLYSEVDVHFRMIHEDTRHLL QYRSSLYSEVDVYFRMIHEDTRHLL 10.0 8.0 - - 3713_1:151384205-151384205 G>A_QYRSSLYSEVDVYFRMIHEDTRHLL 0.0 20:34143853-34143853 C>T 1.0 3879 MELANOMA - - - - ERGIC3 ENST00000357394,p.P261L|uc002xct.3,p.P256L|ENST00000279052,p.P261L|NM_198398,p.P261L|ENST00000447986,p.P271L|NM_015966,p.P256L|ENST00000348547,p.P256L|uc002xcs.3,p.P261L|uc010zvg.2,p.P256L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010zvg.2 nonsynonymous SNV exon9 c.C767T p.P256L HYIQHLSFGEDYPGIVNPLDHTNVT HYIQHLSFGEDYLGIVNPLDHTNVT 9.0 3.0 - - 3879_20:34143853-34143853 C>T_HYIQHLSFGEDYLGIVNPLDHTNVT 0.0 19:35786711-35786711 T>C 0.0 4158 COLORECTAL - - - - MAG uc002nyz.2,p.V81A|NM_002361,p.V81A|NM_001199216,p.V56A|ENST00000595791,p.V81A|uc010eds.2,p.V56A|uc002nyx.2,p.V81A|ENST00000537831,p.V56A|ENST00000361922,p.V81A|NM_080600,p.V81A|ENST00000392213,p.V81A|ENST00000600291,p.V56A|uc002nyy.2,p.V81A retained_intron, protein_coding, processed_transcript uc010eds.2 nonsynonymous SNV exon4 c.T167C p.V56A YPPVVFKSRTQVVHESFQGRSRLLG YPPVVFKSRTQVAHESFQGRSRLLG 3.0 10.0 - - 4158_19:35786711-35786711 T>C_YPPVVFKSRTQVAHESFQGRSRLLG 0.0 15:40750931-40750931 G>A 1.0 4298 COLORECTAL - - - - BAHD1 uc001zlv.2,p.D90N|ENST00000560846,p.D90N|ENST00000416165,p.D90N|uc010bbp.1,p.D90N|NM_014952,p.D90N|NM_001301132,p.D90N|ENST00000561234,p.D90N|uc001zlt.2,p.D90N|uc001zlu.2,p.D90N retained_intron, protein_coding uc010bbp.1 nonsynonymous SNV exon2 c.G268A p.D90N ENVAGPRSADEADELPPDLPKPPSP ENVAGPRSADEANELPPDLPKPPSP 6.0 1.0 - - 4298_15:40750931-40750931 G>A_ENVAGPRSADEANELPPDLPKPPSP 0.0 2:1481186-1481186 G>C 0.0 3775 CERVICAL - - - - TPO uc002qwu.3,p.G383A|NM_175719,p.G383A|ENST00000346956,p.G383A|ENST00000345913,p.G383A|NM_000547,p.G383A|ENST00000382201,p.G383A|ENST00000329066,p.G383A|NM_175721,p.G383A|ENST00000422464,p.G312A|uc002qwx.3,p.G383A|uc002qwr.3,p.G383A|uc002qww.3,p.G383A|NM_001206744,p.G383A|NM_001206745,p.G383A|uc010yip.2,p.G383A|ENST00000337415,p.G383A protein_coding, processed_transcript uc010yip.2 nonsynonymous SNV exon7 c.G1148C p.G383A APAACAPEPGIPGETRGPCFLAGDG APAACAPEPGIPAETRGPCFLAGDG 1.0 6.0 - - 3775_2:1481186-1481186 G>C_APAACAPEPGIPAETRGPCFLAGDG 0.0 1:94643219-94643219 C>T 1.0 3713 MELANOMA - - - - ARHGAP29 uc001dqj.4,p.E952K|ENST00000260526,p.E952K|ENST00000552844,p.E952K|uc001dqk.3,p.E518K|NM_004815,p.E952K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001dqk.3 nonsynonymous SNV exon10 c.G1552A p.E518K ESKIFERATSFEESERKQNALGKCD ESKIFERATSFEKSERKQNALGKCD 3.0 3.0 - - 3713_1:94643219-94643219 C>T_ESKIFERATSFEKSERKQNALGKCD 0.0 7:142627446-142627446 C>T 0.0 3903 MELANOMA - - - - TRPV5 ENST00000439304,p.R69K|ENST00000265310,p.R75K|uc003wby.1,p.R75K|NM_019841,p.R75K|ENST00000442623,p.R75K|uc003wbz.3,p.R75K protein_coding uc003wbz.3 nonsynonymous SNV exon2 c.G224A p.R75K QLLLDCTCDVRQRGALGETALHIAA QLLLDCTCDVRQKGALGETALHIAA 1.0 5.0 - - 3903_7:142627446-142627446 C>T_QLLLDCTCDVRQKGALGETALHIAA 0.0 5:70805549-70805549 C>G 1.0 4196 COLORECTAL - - - - BDP1 ENST00000358731,p.T877S|uc003kbp.1,p.T877S|uc003kbo.3,p.T877S|uc003kbn.1,p.T877S|NM_018429,p.T877S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003kbp.1 nonsynonymous SNV exon17 c.C2630G p.T877S INTKEMQSDLKETGRRAISPREKIL INTKEMQSDLKESGRRAISPREKIL 9.0 7.0 - - 4196_5:70805549-70805549 C>G_INTKEMQSDLKESGRRAISPREKIL 0.0 6:42974688-42974688 A>C 1.0 4320 COLORECTAL - - - - PPP2R5D NM_180976,p.K89T|ENST00000394110,p.K89T|uc021yzq.2,p.K89T retained_intron, protein_coding, nonsense_mediated_decay uc021yzq.2 nonsynonymous SNV exon4 c.A266C p.K89T GPQIVKKELFIQKLRQCCVLFDFVS GPQIVKKELFIQTLRQCCVLFDFVS 9.0 3.0 - - 4320_6:42974688-42974688 A>C_GPQIVKKELFIQTLRQCCVLFDFVS 0.0 8:144993596-144993596 G>T 1.0 4095 COLORECTAL - - - - PLEC ENST00000345136,p.L3465M|uc003zaf.1,p.L3602M|uc003zad.2,p.L3465M|ENST00000322810,p.L3602M|NM_201381,p.L3433M|ENST00000354958,p.L3443M|NM_000445,p.L3492M|ENST00000436759,p.L3492M|ENST00000354589,p.L3465M|uc003zaj.2,p.L3492M|NM_201378,p.L3451M|uc003zac.1,p.L3469M|NM_201384,p.L3465M|NM_201382,p.L3465M|NM_201383,p.L3469M|ENST00000356346,p.L3451M|uc003zah.2,p.L3451M|ENST00000398774,p.L3433M|uc003zae.1,p.L3433M|uc003zag.1,p.L3443M|NM_201379,p.L3443M|uc003zab.1,p.L3465M|ENST00000357649,p.L3469M|ENST00000527096,p.L3488M|NM_201380,p.L3602M retained_intron, protein_coding uc003zaj.2 nonsynonymous SNV exon33 c.C10474A p.L3492M KGLVLRQHGIRLLEAQIATGGIIDP KGLVLRQHGIRLMEAQIATGGIIDP 8.0 9.0 - - 4095_8:144993596-144993596 G>T_KGLVLRQHGIRLMEAQIATGGIIDP 0.0 17:3422064-3422064 C>T 1.0 4196 COLORECTAL - - - - TRPV3 uc010vrl.2,p.E615K|uc010vrh.2,p.E615K|uc002fvr.3,p.E631K|ENST00000572519,p.E631K|ENST00000301365,p.E631K|uc010vrj.2,p.E615K|ENST00000576742,p.E631K|NM_001258205,p.E631K|uc010vri.2,p.E586K|uc002fvu.3,p.E631K|uc002fvt.2,p.E631K|NM_145068,p.E631K retained_intron, protein_coding, nonsense_mediated_decay uc010vrl.2 nonsynonymous SNV exon14 c.G1843A p.E615K CSSYGSFSDAVLELFKLTIGLGDLN CSSYGSFSDAVLKLFKLTIGLGDLN 6.0 9.0 - - 4196_17:3422064-3422064 C>T_CSSYGSFSDAVLKLFKLTIGLGDLN 0.0 19:57325872-57325872 G>A 0.0 3903 MELANOMA - - - - PEG3 ENST00000598410,p.S1189F|uc010etr.2,p.S1313F|ENST00000423103,p.S1313F|NM_001146185,p.S1187F|uc002qnv.2,p.S1313F|ENST00000593695,p.S1187F|ENST00000326441,p.S1313F|NM_006210,p.S1313F|uc002qnw.2,p.S1189F|NM_001146187,p.S1189F|uc002qnu.2,p.S1313F|ENST00000599577,p.S1313F|NM_001146184,p.S1313F|uc002qnt.2,p.S1284F|ENST00000599534,p.S1313F|NM_001146186,p.S1313F|uc002qnx.2,p.S1187F protein_coding, processed_transcript uc010etr.2 nonsynonymous SNV exon9 c.C3938T p.S1313F VTVHKNEPYEYGSSYTHTSFLTEPL VTVHKNEPYEYGFSYTHTSFLTEPL 1.0 4.0 - - 3903_19:57325872-57325872 G>A_VTVHKNEPYEYGFSYTHTSFLTEPL 0.0 13:58206985-58206985 G>A 0.0 4246 COLORECTAL - - - - PCDH17 ENST00000484979,p.C102Y|uc010aec.1,p.C102Y|ENST00000377918,p.C102Y|NM_001040429,p.C102Y|uc001vhq.1,p.C102Y protein_coding, nonsense_mediated_decay uc010aec.1 nonsynonymous SNV exon1 c.G305A p.C102Y IDRESLCRHNAKCQLSLEVFANDKE IDRESLCRHNAKYQLSLEVFANDKE 7.0 1.0 - - 4246_13:58206985-58206985 G>A_IDRESLCRHNAKYQLSLEVFANDKE 0.0 20:34067959-34067959 C>T 1.0 4000 MELANOMA - - - - CEP250 ENST00000342580,p.R859W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000342580 nonsynonymous SNV exon20 c.C2575T p.R859W QKAAHEKEVNQLREKWMQLETEKER QKAAHEKEVNQLWEKWMQLETEKER 8.0 3.0 - - 4000_20:34067959-34067959 C>T_QKAAHEKEVNQLWEKWMQLETEKER 0.0 5:13811836-13811836 A>C 0.0 4238 COLORECTAL - - ID=COSM3357856;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) - DNAH5 uc003jfd.2,p.L2443V|NM_001369,p.L2443V|ENST00000265104,p.L2443V retained_intron, protein_coding, processed_transcript uc003jfd.2 nonsynonymous SNV exon44 c.T7327G p.L2443V SFPDLYRFCIQNLEYKMEVLEAFVI SFPDLYRFCIQNVEYKMEVLEAFVI 3.0 5.0 - - 4238_5:13811836-13811836 A>C_SFPDLYRFCIQNVEYKMEVLEAFVI 0.0 11:62639124-62639124 A>C 1.0 4136 BREAST - - - - SLC3A2 ENST00000377892,p.K94T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000377892 nonsynonymous SNV exon3 c.A281C p.K94T LLASSDPPALASKNAEVTETGFHHV LLASSDPPALASTNAEVTETGFHHV 10.0 7.0 - - 4136_11:62639124-62639124 A>C_LLASSDPPALASTNAEVTETGFHHV 0.0 3:27244025-27244025 G>A 0.0 4238 COLORECTAL - - - - LRRC3B,NEK10 ENST00000357467,p.P102L|uc003cds.1,p.P102L|ENST00000429845,p.P705L retained_intron, protein_coding, processed_transcript uc003cds.1 nonsynonymous SNV exon7 c.C305T p.P102L ILYSCPEVLKSEPYGEKADVWAVGC ILYSCPEVLKSELYGEKADVWAVGC 1.0 7.0 - - 4238_3:27244025-27244025 G>A_ILYSCPEVLKSELYGEKADVWAVGC 0.0 19:48997234-48997234 G>A 0.0 4266 COLORECTAL - - - - LMTK3 NM_001080434,p.A1299V|ENST00000270238,p.A1299V|uc002pjk.3,p.A1299V|ENST00000600059,p.A1270V protein_coding uc002pjk.3 nonsynonymous SNV exon13 c.C3896T p.A1299V AGAAGGEAGGAGAPGPAEEDGEDED AGAAGGEAGGAGVPGPAEEDGEDED 4.0 7.0 - - 4266_19:48997234-48997234 G>A_AGAAGGEAGGAGVPGPAEEDGEDED 0.0 12:104698472-104698472 C>T 1.0 3879 MELANOMA - - - - EID3 NM_001008394,p.R254C|uc001tkw.3,p.R254C|ENST00000527879,p.R254C protein_coding uc001tkw.3 nonsynonymous SNV exon1 c.C760T p.R254C YFEFVIDPNSFSRTVENIFYVSFIV YFEFVIDPNSFSCTVENIFYVSFIV 4.0 9.0 - - 3879_12:104698472-104698472 C>T_YFEFVIDPNSFSCTVENIFYVSFIV 0.0 10:5541098-5541098 C>T 1.0 4301 MELANOMA - - - - CALML5 uc001iic.2,p.E102K|NM_017422,p.E102K|ENST00000380332,p.E102K protein_coding uc001iic.2 nonsynonymous SNV exon1 c.G304A p.E102K FDQDGDGHITVDELRRAMAGLGQPL FDQDGDGHITVDKLRRAMAGLGQPL 4.0 7.0 - - 4301_10:5541098-5541098 C>T_FDQDGDGHITVDKLRRAMAGLGQPL 0.0 10:99640110-99640110 C>T 1.0 3678 MELANOMA 0.0009 - - - CRTAC1 ENST00000298819,p.E558K|ENST00000413387,p.E454K|uc001kot.2,p.E348K protein_coding, processed_transcript uc001kot.2 nonsynonymous SNV exon11 c.G1042A p.E348K PMNASSSHSCALETSPYVSTPMEAT PMNASSSHSCALKTSPYVSTPMEAT 7.0 10.0 - - 3678_10:99640110-99640110 C>T_PMNASSSHSCALKTSPYVSTPMEAT 0.0 X:153284442-153284442 G>T 0.0 4258 ENDOMETRIAL - - - - IRAK1 ENST00000444230,p.A171D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000444230 nonsynonymous SNV exon4 c.C512A p.A171D SPASLWPPPPSPAPSSTKQDPVSKR SPASLWPPPPSPDPSSTKQDPVSKR 10.0 3.0 - - 4258_X:153284442-153284442 G>T_SPASLWPPPPSPDPSSTKQDPVSKR 0.0 1:158627473-158627473 C>A 0.0 4081 COLORECTAL - - - - SPTA1 ENST00000368148,p.A867S|uc001fst.1,p.A867S|ENST00000368147,p.A867S|NM_003126,p.A867S protein_coding, processed_transcript uc001fst.1 nonsynonymous SNV exon19 c.G2599T p.A867S RGNKMVEEGHFAAEDVASRVKSLNQ RGNKMVEEGHFASEDVASRVKSLNQ 1.0 10.0 - - 4081_1:158627473-158627473 C>A_RGNKMVEEGHFASEDVASRVKSLNQ 0.0 16:82101843-82101843 G>A 0.0 4246 COLORECTAL - - ID=COSM1380122;OCCURENCE=1(large_intestine) - HSD17B2 uc002fgv.3,p.G112R|ENST00000199936,p.G112R|NM_002153,p.G112R|ENST00000569351,p.G40R protein_coding, TEC uc002fgv.3 nonsynonymous SNV exon2 c.G334A p.G112R KYLDELGFTVFAGVLNENGPGAEEL KYLDELGFTVFARVLNENGPGAEEL 6.0 9.0 - - 4246_16:82101843-82101843 G>A_KYLDELGFTVFARVLNENGPGAEEL 0.0 3:51697372-51697372 T>C 1.0 4155 MELANOMA - - - - RAD54L2 uc003dbh.3,p.V1036A|uc011bdt.2,p.V1447A|ENST00000409535,p.V1447A|uc011bdu.2,p.V1141A|ENST00000296477,p.V1141A|uc003dbj.3,p.V773A|NM_015106,p.V1447A retained_intron, protein_coding uc011bdu.2 nonsynonymous SNV exon18 c.T3422C p.V1141A QVPPFDSHEVAEVGFSSNDDEDKDD QVPPFDSHEVAEAGFSSNDDEDKDD 8.0 9.0 - - 4155_3:51697372-51697372 T>C_QVPPFDSHEVAEAGFSSNDDEDKDD 0.0 5:149429853-149429853 T>G 1.0 2556 MELANOMA - - - - HMGXB3 ENST00000502717,p.S1080R|NM_014983,p.S1080R|ENST00000503427,p.S1048R|uc003lrk.4,p.S1080R retained_intron, protein_coding, nonsense_mediated_decay uc003lrk.4 nonsynonymous SNV exon19 c.T3240G p.S1080R VVCGSKYLVRGESARDHVDLLASSR VVCGSKYLVRGERARDHVDLLASSR 9.0 5.0 - - 2556_5:149429853-149429853 T>G_VVCGSKYLVRGERARDHVDLLASSR 0.0 2:27800388-27800388 G>C 0.0 4149 OVARIAN - - - - C2orf16 uc002rkz.4,p.E317Q|ENST00000408964,p.E317Q|NM_032266,p.E317Q protein_coding uc002rkz.4 nonsynonymous SNV exon1 c.G949C p.E317Q AERSPRLCPQNLECVEVISEKRLQG AERSPRLCPQNLQCVEVISEKRLQG 1.0 1.0 - - 4149_2:27800388-27800388 G>C_AERSPRLCPQNLQCVEVISEKRLQG 0.0 5:64483845-64483845 C>T 1.0 4326 BREAST - - - - ADAMTS6 ENST00000381055,p.E970K|NM_197941,p.E970K|uc003jtp.3,p.E970K|uc003jto.4,p.E526K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003jtp.3 nonsynonymous SNV exon22 c.G2908A p.E970K SCPPQWVALDWSECTPKCGPGFKHR SCPPQWVALDWSKCTPKCGPGFKHR 6.0 10.0 - - 4326_5:64483845-64483845 C>T_SCPPQWVALDWSKCTPKCGPGFKHR 0.0 15:84651106-84651106 G>T 0.0 4246 COLORECTAL - - - - ADAMTSL3 uc002bjz.4,p.R909M|ENST00000286744,p.R909M|NM_001301110,p.R909M|uc010bmt.1,p.R909M|NM_207517,p.R909M|ENST00000567476,p.R909M retained_intron, protein_coding, processed_transcript uc010bmt.1 nonsynonymous SNV exon21 c.G2726T p.R909M QILSVQRVYIQTREEKRINLTIGSR QILSVQRVYIQTMEEKRINLTIGSR 5.0 8.0 - - 4246_15:84651106-84651106 G>T_QILSVQRVYIQTMEEKRINLTIGSR 0.0 7:75611613-75611613 G>A 1.0 4071 COLORECTAL - - - - POR ENST00000419840,p.R82Q|ENST00000450476,p.R167Q|ENST00000394893,p.R268Q|uc011kgc.2,p.R76Q|ENST00000545601,p.R76Q|uc003udy.3,p.R268Q|ENST00000461988,p.R268Q|NM_000941,p.R268Q retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011kgc.2 nonsynonymous SNV exon3 c.G227A p.R76Q IDAAKVYMGEMGRLKSYENQKPPFD IDAAKVYMGEMGQLKSYENQKPPFD 10.0 7.0 CD8 - 4071_7:75611613-75611613 G>A_IDAAKVYMGEMGQLKSYENQKPPFD 2.0 7:82582375-82582375 G>A 1.0 2369 MELANOMA - - - - PCLO NM_014510,p.P2632S|ENST00000333891,p.P2632S|uc003uhv.2,p.P2632S|NM_033026,p.P2632S|ENST00000423517,p.P2632S|uc003uhx.2,p.P2632S protein_coding, processed_transcript, nonsense_mediated_decay uc003uhx.2 nonsynonymous SNV exon5 c.C7894T p.P2632S FSVVPPVTAVEIPISSEQTFYISGA FSVVPPVTAVEISISSEQTFYISGA 10.0 8.0 - - 2369_7:82582375-82582375 G>A_FSVVPPVTAVEISISSEQTFYISGA 0.0 16:83712033-83712033 C>T 0.0 4069 PANCREATIC - - - - CDH13 NM_001257,p.T502M|ENST00000428848,p.T463M|uc010vnu.2,p.T463M|NM_001220489,p.T463M|uc002fgx.3,p.T502M|uc010vns.2,p.T549M|NM_001220490,p.T248M|ENST00000268613,p.T549M|NM_001220488,p.T549M|ENST00000566620,p.T502M|uc010vnt.2,p.T248M retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010vnu.2 nonsynonymous SNV exon9 c.C1388T p.T463M LSVGSVLLTVNATDPDSLQHQTIRY LSVGSVLLTVNAMDPDSLQHQTIRY 8.0 7.0 - - 4069_16:83712033-83712033 C>T_LSVGSVLLTVNAMDPDSLQHQTIRY 0.0 19:58868496-58868496 T>G 1.0 4071 COLORECTAL - - - - ZNF497 NM_001207009,p.K169T|ENST00000425453,p.K169T|NM_198458,p.K169T|uc002qsh.2,p.K169T|uc021vcw.1,p.K169T|uc002qsi.2,p.K169T|ENST00000311044,p.K169T protein_coding uc021vcw.1 nonsynonymous SNV exon1 c.A506C p.K169T SGEKPYACRECGKAFRAHSQLIHHQ SGEKPYACRECGTAFRAHSQLIHHQ 2.0 4.0 - - 4071_19:58868496-58868496 T>G_SGEKPYACRECGTAFRAHSQLIHHQ 0.0 2:40657293-40657293 C>T 1.0 3713 MELANOMA - - - - SLC8A1 NM_021097,p.G43E|ENST00000402441,p.G43E|ENST00000542024,p.G43E|ENST00000406391,p.G43E|NM_001252624,p.G43E|ENST00000448531,p.G43E|ENST00000455476,p.G43E|NM_001112801,p.G43E|NM_001112800,p.G43E|uc002rsc.1,p.G43E|uc002rrx.3,p.G43E|ENST00000417271,p.G43E|uc002rrz.3,p.G43E|NM_001112802,p.G43E|uc010fan.1,p.G43E|uc002rry.3,p.G43E|uc002rsa.3,p.G43E|ENST00000408028,p.G43E|ENST00000407929,p.G40E|ENST00000403092,p.G43E|ENST00000542756,p.G43E|ENST00000406785,p.G43E|uc002rsb.2,p.G43E|ENST00000405269,p.G43E|ENST00000405901,p.G43E|ENST00000332839,p.G43E|uc002rsd.4,p.G43E protein_coding, nonsense_mediated_decay uc010fan.1 nonsynonymous SNV exon3 c.G128A p.G43E DHVIAETEMEGEGNETGECTGSYYC DHVIAETEMEGEENETGECTGSYYC 4.0 6.0 - - 3713_2:40657293-40657293 C>T_DHVIAETEMEGEENETGECTGSYYC 0.0 7:55214300-55214309 AATCCTGCAT>- 0.0 4259 COLORECTAL - - - 1 EGFR uc022adm.1,p.E142fs|NM_201284,p.E142fs|NM_201283,p.E142fs|NM_201282,p.E142fs|ENST00000442591,p.E142fs|uc003tqi.3,p.E142fs|NM_005228,p.E142fs|ENST00000275493,p.E142fs|ENST00000450046,p.E89fs|ENST00000420316,p.E142fs|ENST00000342916,p.E142fs|uc003tqh.3,p.E142fs|uc003tqk.3,p.E142fs|uc011kco.2,p.E89fs|uc003tqj.3,p.E142fs|ENST00000344576,p.E142fs|ENST00000454757,p.E89fs retained_intron, protein_coding, processed_transcript uc022adm.1 frameshift deletion exon4 c.426_435del p.E142fs TGLKELPMRNLQEILHGAVRFSNNP TGLKELPMRNLQEAPCGSATTLPCATWRASSGGT 7.0 6.0 - - 4259_7:55214300-55214309 AATCCTGCAT>-_TGLKELPMRNLQEAPCGSATTLPCATWRASSGGT 0.0 11:119599204-119599204 C>G 1.0 4281 COLORECTAL - - - - PVRL1 NM_203286,p.L20F|uc001pwv.3,p.L20F|NM_002855,p.L20F|ENST00000340882,p.L20F|ENST00000264025,p.L20F|uc001pwu.1,p.L20F|uc001pww.3,p.L20F|NM_203285,p.L20F|ENST00000341398,p.L20F retained_intron, protein_coding, processed_transcript uc001pww.3 nonsynonymous SNV exon1 c.G60C p.L20F GAAGRWWGLALGLTAFFLPGVHSQV GAAGRWWGLALGFTAFFLPGVHSQV 9.0 3.0 - - 4281_11:119599204-119599204 C>G_GAAGRWWGLALGFTAFFLPGVHSQV 0.0 19:11596534-11596534 G>A 1.0 4155 MELANOMA - - - - ZNF653 ENST00000293771,p.P503S|NM_138783,p.P503S|uc002mrz.2,p.P503S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002mrz.2 nonsynonymous SNV exon7 c.C1507T p.P503S VHRKGKTKVCPHPGCGKKFYLSNHL VHRKGKTKVCPHSGCGKKFYLSNHL 8.0 6.0 - - 4155_19:11596534-11596534 G>A_VHRKGKTKVCPHSGCGKKFYLSNHL 0.0 18:33734937-33734937 C>T 1.0 3879 MELANOMA - - - - ELP2 ENST00000351393,p.P391L|ENST00000350494,p.P412L|NM_001242876,p.P412L|ENST00000539560,p.P417L|NM_001242875,p.P482L|ENST00000442325,p.P482L|ENST00000423854,p.P347L|uc002kzm.2,p.P391L|uc002kzn.2,p.P347L|uc002kzo.2,p.P347L|ENST00000542824,p.P347L|uc002kzk.2,p.P417L|NM_001242879,p.P347L|NM_001242878,p.P347L|ENST00000358232,p.P417L|uc010xch.2,p.P412L|uc010xcg.2,p.P482L|NM_001242877,p.P391L|NM_018255,p.P417L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010xch.2 nonsynonymous SNV exon11 c.C1235T p.P412L TVGTDQTTRLFAPWKRKDQSQVTWH TVGTDQTTRLFALWKRKDQSQVTWH 10.0 9.0 - - 3879_18:33734937-33734937 C>T_TVGTDQTTRLFALWKRKDQSQVTWH 0.0 19:46145475-46145475 G>A 0.0 4278 COLORECTAL - - - - EML2 NM_001193268,p.A103V|ENST00000588172,p.A37V|NM_001193269,p.A49V|uc010xxl.2,p.A49V|ENST00000536630,p.A49V|ENST00000399594,p.A60V|ENST00000587152,p.A103V|uc010ekl.3,p.A103V|uc010xxm.2,p.A103V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010xxm.2 nonsynonymous SNV exon2 c.C308T p.A103V KAALADALRRLRACEEQGAALRARG KAALADALRRLRVCEEQGAALRARG 9.0 8.0 - - 4278_19:46145475-46145475 G>A_KAALADALRRLRVCEEQGAALRARG 0.0 7:148768038-148768038 A>G 0.0 4345 COLORECTAL - - - - ZNF786 NM_152411,p.L609P|ENST00000491431,p.L609P|uc003wfi.2,p.L523P|uc011kuk.1,p.L572P|ENST00000316286,p.L523P|ENST00000451334,p.L572P|uc003wfh.2,p.L609P protein_coding uc011kuk.1 nonsynonymous SNV exon5 c.T1715C p.L572P ECNRSFRLKGQLLSHQRLHTGERPF ECNRSFRLKGQLPSHQRLHTGERPF 4.0 1.0 - - 4345_7:148768038-148768038 A>G_ECNRSFRLKGQLPSHQRLHTGERPF 0.0 9:37442285-37442290 GGTGGA>- 0.0 4077 BILE DUCT - - - - ZBTB5 NM_014872,p.87_88del|uc003zzx.3,p.87_88del|ENST00000307750,p.87_88del|uc022bgv.1,p.87_88del protein_coding uc022bgv.1 nonframeshift deletion exon1 c.259_264del p.87_88del EAFAALIDMMYTSTLMLGESNVMDV EAFAALIDMMYTLMLGESNVMDVLL 6.0 8.0 - - 4077_9:37442285-37442290 GGTGGA>-_EAFAALIDMMYTLMLGESNVMDVLL 0.0 X:9000386-9000386 T>A 0.0 4266 COLORECTAL - - - - FAM9B uc004csh.3,p.T94S|ENST00000362066,p.T94S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc004csh.3 nonsynonymous SNV exon2 c.A280T p.T94S GEREPFAETDEHTGANTKKPEDTAV GEREPFAETDEHSGANTKKPEDTAV 1.0 3.0 - - 4266_X:9000386-9000386 T>A_GEREPFAETDEHSGANTKKPEDTAV 0.0 12:49445335-49445335 G>T 0.0 3466 MELANOMA - - - 1 KMT2D uc001rta.4,p.P711T|ENST00000301067,p.P711T|NM_003482,p.P711T retained_intron, protein_coding, processed_transcript uc001rta.4 nonsynonymous SNV exon10 c.C2131A p.P711T SPPPEDSPASPPPEDSLMSLPLEES SPPPEDSPASPPTEDSLMSLPLEES 8.0 9.0 - - 3466_12:49445335-49445335 G>T_SPPPEDSPASPPTEDSLMSLPLEES 0.0 14:21822662-21822662 G>A 1.0 3713 MELANOMA - - - - SUPT16H ENST00000216297,p.L900F|uc001wao.2,p.L900F|NM_007192,p.L900F retained_intron, protein_coding, nonsense_mediated_decay uc001wao.2 nonsynonymous SNV exon23 c.C2698T p.L900F SCDLKYTEGVQSLNWTKIMKTIVDD SCDLKYTEGVQSFNWTKIMKTIVDD 10.0 2.0 - - 3713_14:21822662-21822662 G>A_SCDLKYTEGVQSFNWTKIMKTIVDD 0.0 12:97023888-97023888 T>C 0.0 4245 COLORECTAL - - - - CDK17,NEDD1 uc001ter.1,p.L354P|uc001tes.3,p.L48P retained_intron, protein_coding, processed_transcript uc001tes.3 nonsynonymous SNV exon4 c.T143C p.L48P VHDFLKRRNESLLGLIKVKYKDSAL VHDFLKRRNESLPGLIKVKYKDSAL 3.0 1.0 - - 4245_12:97023888-97023888 T>C_VHDFLKRRNESLPGLIKVKYKDSAL 0.0 6:166844023-166844023 C>T 0.0 4246 COLORECTAL - - ID=COSM595032,COSM595033;OCCURENCE=1(lung) - RPS6KA2 NM_001006932,p.R508Q|uc003qvb.1,p.R500Q|uc003qvd.1,p.R525Q|ENST00000265678,p.R500Q|uc003qvc.1,p.R508Q|ENST00000510118,p.R525Q|ENST00000405189,p.R411Q|uc010kkl.1,p.R411Q|ENST00000481261,p.R411Q|ENST00000503859,p.R508Q|uc011ego.1,p.R411Q|NM_021135,p.R500Q protein_coding, processed_transcript uc011ego.1 nonsynonymous SNV exon16 c.G1232A p.R411Q LMRGGELLDRILRQRYFSEREASDV LMRGGELLDRILQQRYFSEREASDV 6.0 7.0 - - 4246_6:166844023-166844023 C>T_LMRGGELLDRILQQRYFSEREASDV 0.0 11:5510223-5510223 C>T 0.0 4301 MELANOMA - - - - OR52D1 NM_001005163,p.S96F|ENST00000322641,p.S96F|uc010qzg.2,p.S96F protein_coding uc010qzg.2 nonsynonymous SNV exon1 c.C287T p.S96F MLAILWLHAGEISFGGCLAQMFCVH MLAILWLHAGEIFFGGCLAQMFCVH 1.0 8.0 - - 4301_11:5510223-5510223 C>T_MLAILWLHAGEIFFGGCLAQMFCVH 0.0 2:128046282-128046282 C>A 1.0 4046 OVARIAN - - - 1 ERCC3 ENST00000285398,p.M327I|uc002tog.1,p.M263I|uc002toh.1,p.M327I|uc010flx.1,p.M82I|uc002tof.1,p.M263I|uc002toe.1,p.M82I|NM_000122,p.M327I|ENST00000493187,p.M263I retained_intron, protein_coding, nonsense_mediated_decay uc010flx.1 nonsynonymous SNV exon6 c.G246T p.M82I VLRPYQEKSLRKMFGNGRARSGVIV VLRPYQEKSLRKIFGNGRARSGVIV 9.0 10.0 - - 4046_2:128046282-128046282 C>A_VLRPYQEKSLRKIFGNGRARSGVIV 0.0 1:171173059-171173059 G>A 0.0 4259 COLORECTAL - - - - FMO2 uc001ghk.1,p.G228D|ENST00000209929,p.G228D|ENST00000441535,p.G228D retained_intron, protein_coding, processed_transcript uc001ghk.1 nonsynonymous SNV exon6 c.G683A p.G228D HGTWVMSRISEDGYPWDSVFHTRFR HGTWVMSRISEDDYPWDSVFHTRFR 3.0 8.0 - - 4259_1:171173059-171173059 G>A_HGTWVMSRISEDDYPWDSVFHTRFR 0.0 9:18777034-18777034 G>A 0.0 4284 COLORECTAL - - ID=COSM158916;OCCURENCE=1(breast) - ADAMTSL1 uc003zne.4,p.R936H|NM_001040272,p.R936H|ENST00000380548,p.R936H retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003zne.4 nonsynonymous SNV exon19 c.G2807A p.R936H VTVAPFGYLKIHRLKPSDAGVYTCS VTVAPFGYLKIHHLKPSDAGVYTCS 5.0 2.0 - - 4284_9:18777034-18777034 G>A_VTVAPFGYLKIHHLKPSDAGVYTCS 0.0 2:160876723-160876723 G>A 0.0 4155 MELANOMA - - - - PLA2R1 NM_001007267,p.S449F|ENST00000392771,p.S449F|uc010zcp.2,p.S449F|uc002ubf.3,p.S449F|NM_001195641,p.S449F|uc002ube.2,p.S449F|ENST00000283243,p.S449F|NM_007366,p.S449F protein_coding, processed_transcript uc010zcp.2 nonsynonymous SNV exon8 c.C1346T p.S449F TWIGLSSNKIPVSFEWSNDSSVIFT TWIGLSSNKIPVFFEWSNDSSVIFT 7.0 10.0 - - 4155_2:160876723-160876723 G>A_TWIGLSSNKIPVFFEWSNDSSVIFT 0.0 18:43310353-43310353 C>T 0.0 2591 MELANOMA - - - - SLC14A1 ENST00000588179,p.S79L|uc002lbk.4,p.S23L|ENST00000415427,p.S79L|uc002lbf.4,p.S23L|uc021ujg.1,p.S23L|ENST00000589891,p.S79L|ENST00000436407,p.S79L|NM_001146036,p.S23L|ENST00000589700,p.S23L|ENST00000586142,p.S23L|ENST00000586951,p.S23L|uc002lbj.4,p.S79L|NM_001146037,p.S79L|ENST00000586056,p.S23L|uc010dnk.3,p.S79L|NM_001128588,p.S79L|NM_015865,p.S23L|uc010xcn.2,p.S23L|ENST00000321925,p.S23L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021ujg.1 nonsynonymous SNV exon1 c.C68T p.S23L DSPTMVRGENQVSPCQGRRCFPKAL DSPTMVRGENQVLPCQGRRCFPKAL 1.0 5.0 - - 2591_18:43310353-43310353 C>T_DSPTMVRGENQVLPCQGRRCFPKAL 0.0 X:153642444-153642444 A>T 1.0 4196 COLORECTAL - - - - TAZ uc004fkx.3,p.E126V|ENST00000351413,p.E126V|uc004fky.3,p.E126V|uc010nuy.3,p.E144V|ENST00000299328,p.E126V|ENST00000426834,p.E144V|NM_000116,p.E126V|ENST00000475699,p.E126V|NM_181312,p.E126V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010nuy.3 nonsynonymous SNV exon5 c.A431T p.E144V SLGKCVPVCRGAEFFQAENEGKGVL SLGKCVPVCRGAVFFQAENEGKGVL 10.0 8.0 - - 4196_X:153642444-153642444 A>T_SLGKCVPVCRGAVFFQAENEGKGVL 0.0 12:25398285-25398285 C>A 1.0 4129 NSCLC - - ID=COSM1140136,COSM516;OCCURENCE=15(stomach),1(central_nervous_system),8(upper_aerodigestive_tract),2(oesophagus),3(peritoneum),1776(lung),18(thyroid),17(haematopoietic_and_lymphoid_tissue),2(testis),2(cervix),4(gastrointestinal_tract_(site_indeterminate)),13(soft_tissue),34(ovary),38(endometrium),5(skin),11(breast),8(small_intestine),1(kidney),130(pancreas),4(liver),15(urinary_tract),1(adrenal_gland),1476(large_intestine),51(biliary_tract),10(prostate) 1 KRAS ENST00000256078,p.G12C|uc001rgp.1,p.G12C|NM_033360,p.G12C|NM_004985,p.G12C|ENST00000556131,p.G12C|ENST00000557334,p.G12C|uc001rgq.1,p.G12C|ENST00000311936,p.G12C protein_coding uc001rgq.1 nonsynonymous SNV exon2 c.G34T p.G12C MTEYKLVVVGAGGVGKSALTIQLI MTEYKLVVVGACGVGKSALTIQLI 7.0 8.0 - - 4129_12:25398285-25398285 C>A_MTEYKLVVVGACGVGKSALTIQLI 0.0 1:52442644-52442644 G>- 1.0 4077 BILE DUCT - - - - RAB3B uc001cth.3,p.P49fs|ENST00000371655,p.P49fs|NM_002867,p.P49fs protein_coding uc001cth.3 frameshift deletion exon2 c.146delC p.P49fs SFLFRYADDTFTPAFVSTVGIDFKV SFLFRYADDTFTQPSLAPWASTSR 4.0 9.0 - - 4077_1:52442644-52442644 G>-_SFLFRYADDTFTQPSLAPWASTSR 0.0 5:131289968-131289968 A>T 0.0 4046 OVARIAN - - - 2 ACSL6 NM_001205248,p.F685I|uc003kvw.2,p.F331I|uc003kwa.2,p.F696I|ENST00000379264,p.F710I|ENST00000379240,p.F685I|ENST00000357096,p.F610I|ENST00000379246,p.F696I|NM_001009185,p.F710I|ENST00000544770,p.F594I|NM_001205251,p.F610I|ENST00000543479,p.F685I|uc010jdn.2,p.F700I|ENST00000379272,p.F700I|NM_001205247,p.F675I|ENST00000379244,p.F685I|uc003kvy.2,p.F710I|ENST00000379255,p.F610I|uc003kvz.2,p.F610I|uc003kwb.3,p.F675I|NM_015256,p.F710I|ENST00000296869,p.F710I|uc010jdo.2,p.F685I|uc021ydh.1,p.F610I|ENST00000431707,p.F665I|NM_001205250,p.F696I|uc003kvx.2,p.F710I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021ydh.1 nonsynonymous SNV exon20 c.T1828A p.F610I TLKAKRPELREYFKKQIEELYSISM TLKAKRPELREYIKKQIEELYSISM 2.0 10.0 - - 4046_5:131289968-131289968 A>T_TLKAKRPELREYIKKQIEELYSISM 0.0 5:112175350-112175350 ->T 0.0 4246 COLORECTAL - - - 1 APC uc010jbz.3,p.E1070fs|uc003kpy.4,p.E1353fs|ENST00000457016,p.E1353fs|ENST00000257430,p.E1353fs|uc003kpz.4,p.E1353fs|ENST00000508376,p.E1353fs|NM_001127511,p.E1335fs|NM_001127510,p.E1353fs|uc011cvt.2,p.E1335fs|NM_000038,p.E1353fs|uc010jca.3,p.E653fs retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011cvt.2 frameshift insertion exon14 c.4006dupT p.E1335fs SLSSESARHKAVEFSSGAKSPSKSG SLSSESARHKAVEFFFRSEISLQKWCSDTQKST 5.0 2.0 - - 4246_5:112175350-112175350 ->T_SLSSESARHKAVEFFFRSEISLQKWCSDTQKST 0.0 1:240492409-240492409 A>C 0.0 3903 MELANOMA - - - - FMN2 ENST00000319653,p.K1417Q|ENST00000441342,p.K63Q|uc010pye.2,p.K1421Q|uc010pyd.2,p.K1417Q|NM_020066,p.K1417Q|uc010pyf.1,p.K63Q protein_coding, processed_transcript uc010pyf.1 nonsynonymous SNV exon4 c.A187C p.K63Q NRAQSDELEKIEKHGRSSKDKENAK NRAQSDELEKIEQHGRSSKDKENAK 6.0 10.0 - - 3903_1:240492409-240492409 A>C_NRAQSDELEKIEQHGRSSKDKENAK 0.0 13:53422174-53422174 G>A 0.0 3775 CERVICAL - - - - PCDH8 uc001vhj.3,p.P133L|ENST00000377942,p.P133L|uc001vhi.3,p.P133L|ENST00000338862,p.P133L|NM_002590,p.P133L|NM_032949,p.P133L protein_coding uc001vhj.3 nonsynonymous SNV exon1 c.C398T p.P133L VEVEVRDVNDHAPRFPRAQIPVEVS VEVEVRDVNDHALRFPRAQIPVEVS 4.0 9.0 - - 3775_13:53422174-53422174 G>A_VEVEVRDVNDHALRFPRAQIPVEVS 0.0 X:123637503-123637503 G>T 0.0 4245 COLORECTAL - - - - TENM1 NM_014253,p.Q1118K|uc011muj.2,p.Q1117K|ENST00000422452,p.Q1118K|ENST00000371130,p.Q1118K|uc010nqy.3,p.Q1118K|NM_001163279,p.Q1117K|NM_001163278,p.Q1118K|uc004euj.3,p.Q1118K protein_coding, processed_transcript uc011muj.2 nonsynonymous SNV exon19 c.C3349A p.Q1117K EYETCPDFILWEQRTVVLQGFEMDA EYETCPDFILWEKRTVVLQGFEMDA 2.0 6.0 - - 4245_X:123637503-123637503 G>T_EYETCPDFILWEKRTVVLQGFEMDA 0.0 7:116772014-116772014 A>C 1.0 4287 COLORECTAL - - - - ST7 ENST00000323984,p.E214A|ENST00000393447,p.E171A|ENST00000393449,p.E214A|ENST00000432298,p.E168A|ENST00000265437,p.E214A|uc011knm.2,p.E171A|NM_021908,p.E214A|uc003viq.3,p.E168A|ENST00000490039,p.E162A|uc003vin.3,p.E214A retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011knm.2 nonsynonymous SNV exon6 c.A512C p.E171A RISAAHEALEINEIRSRVEVPLIAS RISAAHEALEINAIRSRVEVPLIAS 8.0 7.0 CD8 - 4287_7:116772014-116772014 A>C_RISAAHEALEINAIRSRVEVPLIAS 1.0 19:55420645-55420645 G>A 0.0 4240 BREAST 0.0009 - - - NCR1 uc002qid.2,p.E38K|NM_001242356,p.E38K|NM_001145458,p.E133K|NM_004829,p.E133K|ENST00000598576,p.E121K|uc010esj.2,p.E26K|uc002qic.2,p.E133K|ENST00000338835,p.E133K|uc002qie.2,p.E133K|NM_001145457,p.E133K|ENST00000357397,p.E26K|ENST00000350790,p.E38K|uc002qif.2,p.E38K|ENST00000291890,p.E133K|uc002qib.2,p.E133K|ENST00000594765,p.E133K|ENST00000447255,p.E133K|NM_001242357,p.E38K retained_intron, protein_coding uc010esj.2 nonsynonymous SNV exon2 c.G76A p.E26K YDTPTLSVHPGPEVISGEKVTFYCR YDTPTLSVHPGPKVISGEKVTFYCR 1.0 5.0 - - 4240_19:55420645-55420645 G>A_YDTPTLSVHPGPKVISGEKVTFYCR 0.0 8:25232133-25232133 C>T 1.0 3713 MELANOMA - - - - DOCK5 uc003xek.3,p.A49V|uc003xeh.1,p.A974V|uc003xei.3,p.A830V|ENST00000276440,p.A1260V|NM_024940,p.A1260V|uc003xeg.3,p.A1260V retained_intron, protein_coding, nonsense_mediated_decay uc003xek.3 nonsynonymous SNV exon3 c.C146T p.A49V RDLHRDCENYTEAAYTLLLHAELLQ RDLHRDCENYTEVAYTLLLHAELLQ 7.0 4.0 - - 3713_8:25232133-25232133 C>T_RDLHRDCENYTEVAYTLLLHAELLQ 0.0 10:99498251-99498251 G>A 1.0 4069 PANCREATIC - - - - ZFYVE27 NM_001174122,p.R6H|NM_001174120,p.R6H|uc021pwq.1,p.R6H|uc010qpd.2,p.R6H|NM_001002261,p.R6H|ENST00000356257,p.R6H|ENST00000337540,p.R6H|NM_001002262,p.R6H|NM_144588,p.R6H|uc001kol.2,p.R6H|uc001koq.3,p.R6H|uc001kom.2,p.R6H|ENST00000453958,p.R6H|NM_001174119,p.R6H|ENST00000370613,p.R6H|ENST00000359980,p.R6H|ENST00000357540,p.R6H|uc010qpa.2,p.R6H|ENST00000393677,p.R6H protein_coding, processed_transcript, nonsense_mediated_decay uc021pwq.1 nonsynonymous SNV exon1 c.G17A p.R6H MQTSEREGSGPELSPSVM MQTSEHEGSGPELSPSVM 9.0 9.0 CD8 - 4069_10:99498251-99498251 G>A_MQTSEHEGSGPELSPSVM 2.0 14:20010235-20010235 A>G 0.0 4326 BREAST - rs8135863 - - POTEM ENST00000551509,p.V308A|ENST00000547848,p.V308A|NM_001145442,p.V308A|uc001vwc.3,p.V308A protein_coding, nonsense_mediated_decay uc001vwc.3 nonsynonymous SNV exon5 c.T923C p.V308A ANLNALDRYGRTVLILAVCCGSASI ANLNALDRYGRTALILAVCCGSASI 4.0 7.0 - - 4326_14:20010235-20010235 A>G_ANLNALDRYGRTALILAVCCGSASI 0.0 1:6556602-6556602 C>T 1.0 4326 BREAST - - - - PLEKHG5 ENST00000377740,p.G32E|NM_198681,p.G32E|ENST00000377748,p.G32E|uc001anq.2,p.G32E|uc001anp.2,p.G32E retained_intron, protein_coding uc001anq.2 nonsynonymous SNV exon2 c.G95A p.G32E SGTDDQSPAEKKGLRCQNPACMDKG SGTDDQSPAEKKELRCQNPACMDKG 6.0 8.0 - - 4326_1:6556602-6556602 C>T_SGTDDQSPAEKKELRCQNPACMDKG 0.0 19:49573484-49573484 G>A 1.0 4196 COLORECTAL - - - - KCNA7 uc002pmg.3,p.R403W|ENST00000221444,p.R403W|NM_031886,p.R403W protein_coding uc002pmg.3 nonsynonymous SNV exon2 c.C1207T p.R403W PVIVSNFSYFYHRETEGEEAGMFSH PVIVSNFSYFYHWETEGEEAGMFSH 2.0 8.0 - - 4196_19:49573484-49573484 G>A_PVIVSNFSYFYHWETEGEEAGMFSH 0.0 1:109193763-109193763 G>A 1.0 3879 MELANOMA - - - - HENMT1 uc009wer.3,p.S156F|ENST00000370032,p.S156F|NM_144584,p.S156F|uc001dvu.4,p.S156F|uc001dvt.4,p.S156F|ENST00000370031,p.S156F|ENST00000402983,p.S156F|ENST00000420055,p.S156F|NM_001102592,p.S156F protein_coding, processed_transcript uc009wer.3 nonsynonymous SNV exon6 c.C467T p.S156F RFPEVVFGYLSPSMIVISTPNSEFN RFPEVVFGYLSPFMIVISTPNSEFN 5.0 4.0 - - 3879_1:109193763-109193763 G>A_RFPEVVFGYLSPFMIVISTPNSEFN 0.0 19:11623896-11623896 A>C 1.0 4287 COLORECTAL - - - - ECSIT ENST00000592571,p.L30V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay ENST00000592571 nonsynonymous SNV exon1 c.T88G p.L30V LAMFGLRHMEPDLSARVTIYQAPCA LAMFGLRHMEPDVSARVTIYQAPCA 9.0 6.0 - - 4287_19:11623896-11623896 A>C_LAMFGLRHMEPDVSARVTIYQAPCA 0.0 10:83637750-83637750 G>A 0.0 4284 COLORECTAL - - ID=COSM1474824;OCCURENCE=1(breast) - NRG3 ENST00000404576,p.V12I|ENST00000555784,p.V12I|uc021pvi.1,p.V12I|uc021pvg.1,p.V12I|uc021pve.1,p.V12I|ENST00000556918,p.V12I protein_coding, nonsense_mediated_decay uc021pvi.1 nonsynonymous SNV exon1 c.G34A p.V12I MECGIPPTLVCVGRGGGLHTVGVF MECGIPPTLVCIGRGGGLHTVGVF 3.0 1.0 - - 4284_10:83637750-83637750 G>A_MECGIPPTLVCIGRGGGLHTVGVF 0.0 4:1305927-1305927 A>C 1.0 4345 COLORECTAL - - - - MAEA ENST00000502558,p.K77T|ENST00000452175,p.K66T|NM_001297430,p.K77T|uc011bvb.2,p.K77T retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc011bvb.2 nonsynonymous SNV exon2 c.A230C p.K77T DSVVSLLDGVVEKLSVLKRKDLVNI DSVVSLLDGVVETLSVLKRKDLVNI 10.0 2.0 - - 4345_4:1305927-1305927 A>C_DSVVSLLDGVVETLSVLKRKDLVNI 0.0 17:27893596-27893596 G>A 0.0 3795 MELANOMA - - - - ABHD15 uc002hed.2,p.A130V|NM_198147,p.A130V|ENST00000307201,p.A130V protein_coding uc002hed.2 nonsynonymous SNV exon1 c.C389T p.A130V PGPELAREYLQLADDGLVALDWVVG PGPELAREYLQLVDDGLVALDWVVG 4.0 1.0 - - 3795_17:27893596-27893596 G>A_PGPELAREYLQLVDDGLVALDWVVG 0.0 3:147113979-147113979 G>C 0.0 4259 COLORECTAL - - - - ZIC4 ENST00000525172,p.F166L|ENST00000425731,p.F154L|ENST00000484399,p.F116L|uc011bno.2,p.F166L|ENST00000383075,p.F116L|uc003ewc.2,p.F46L|ENST00000473123,p.F116L|NM_001168378,p.F166L|uc003ewd.2,p.F116L|ENST00000462748,p.F116L|NM_032153,p.F116L|NM_001168379,p.F154L|uc021xff.1,p.F154L retained_intron, protein_coding, processed_transcript uc021xff.1 nonsynonymous SNV exon3 c.C462G p.F154L TVNLAAPHGPGAFFRYMRQPIKQEL TVNLAAPHGPGALFRYMRQPIKQEL 5.0 9.0 - - 4259_3:147113979-147113979 G>C_TVNLAAPHGPGALFRYMRQPIKQEL 0.0 13:36379865-36379865 C>T 1.0 4126 NSCLC - - - - DCLK1 NM_001195415,p.V332I|NM_004734,p.V639I|uc001uve.4,p.V332I|NM_001195416,p.V332I|ENST00000379893,p.V332I|uc010abk.3,p.V159I|ENST00000255448,p.V639I|uc001uvf.3,p.V639I|ENST00000360631,p.V639I|uc010teh.2,p.V332I protein_coding, processed_transcript uc010teh.2 nonsynonymous SNV exon11 c.G994A p.V332I MLLVDVDQRFSAVQVLEHPWVNDDG MLLVDVDQRFSAIQVLEHPWVNDDG 3.0 4.0 - - 4126_13:36379865-36379865 C>T_MLLVDVDQRFSAIQVLEHPWVNDDG 0.0 3:47446239-47446239 C>T 0.0 4081 COLORECTAL 0.0014 - - - PTPN23 uc011baw.1,p.S61L|ENST00000456221,p.S61L|uc003crf.1,p.S86L|ENST00000265562,p.S86L|NM_015466,p.S86L retained_intron, protein_coding, nonsense_mediated_decay uc011baw.1 nonsynonymous SNV exon2 c.C182T p.S61L QLHYLQSRVPMGSGQEAAVPVTWTE QLHYLQSRVPMGLGQEAAVPVTWTE 8.0 9.0 - - 4081_3:47446239-47446239 C>T_QLHYLQSRVPMGLGQEAAVPVTWTE 0.0 15:48539631-48539631 T>C 0.0 4158 COLORECTAL - - ID=COSM1265667,COSM1265666;OCCURENCE=1(oesophagus) - SLC12A1 uc010bem.3,p.L553P|uc001zwq.4,p.L324P|ENST00000558405,p.L553P|uc001zwr.4,p.L280P|ENST00000396577,p.L553P|uc001zwn.4,p.L553P|uc010uew.1,p.L359P|NM_001184832,p.L553P|NM_000338,p.L553P|ENST00000380993,p.L553P|ENST00000559641,p.L366P retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010uew.1 nonsynonymous SNV exon12 c.T1076C p.L359P NNEPLRGYILTFLIAMAFILIAELN NNEPLRGYILTFPIAMAFILIAELN 7.0 1.0 - - 4158_15:48539631-48539631 T>C_NNEPLRGYILTFPIAMAFILIAELN 0.0 12:41582655-41582655 G>T 0.0 4281 COLORECTAL - - - - PDZRN4 NM_001164595,p.C133F|uc010skn.2,p.C133F|ENST00000402685,p.C133F retained_intron, protein_coding uc010skn.2 nonsynonymous SNV exon1 c.G398T p.C133F GLGGGEVPARGGCGPTPRAGRGGGA GLGGGEVPARGGFGPTPRAGRGGGA 2.0 5.0 - - 4281_12:41582655-41582655 G>T_GLGGGEVPARGGFGPTPRAGRGGGA 0.0 6:51918854-51918854 G>A 1.0 4329 COLORECTAL - - - - PKHD1 uc003pah.1,p.T649M|ENST00000371117,p.T649M|ENST00000340994,p.T649M|NM_170724,p.T649M|uc003pai.3,p.T649M|NM_138694,p.T649M protein_coding uc003pai.3 nonsynonymous SNV exon20 c.C1946T p.T649M NMVKNTTCDWSLTRTSPESWQFDCT NMVKNTTCDWSLMRTSPESWQFDCT 4.0 6.0 - - 4329_6:51918854-51918854 G>A_NMVKNTTCDWSLMRTSPESWQFDCT 0.0 2:178481702-178481702 T>G 0.0 4346 COLORECTAL - - - - TTC30A ENST00000355689,p.K576N|NM_152275,p.K576N|uc002ulo.3,p.K576N protein_coding uc002ulo.3 nonsynonymous SNV exon1 c.A1728C p.K576N ISRVIKSLEPYNKKLGTDTWYYAKR ISRVIKSLEPYNNKLGTDTWYYAKR 4.0 4.0 - - 4346_2:178481702-178481702 T>G_ISRVIKSLEPYNNKLGTDTWYYAKR 0.0 11:61624977-61624977 C>T 1.0 4000 MELANOMA - - - - FADS2 NM_004265,p.T286I|ENST00000522056,p.T255I|uc001nsk.3,p.T286I|uc001nsl.1,p.T286I|NM_001281501,p.T264I|ENST00000355484,p.T52I|ENST00000278840,p.T286I|NM_001281502,p.T255I|ENST00000521571,p.T52I|ENST00000257261,p.T264I|uc001nsj.2,p.T264I|ENST00000521849,p.T286I|uc010rlo.1,p.T255I retained_intron, protein_coding uc010rlo.1 nonsynonymous SNV exon7 c.C764T p.T255I LIPMYFQYQIIMTMIVHKNWVDLAW LIPMYFQYQIIMIMIVHKNWVDLAW 7.0 2.0 - - 4000_11:61624977-61624977 C>T_LIPMYFQYQIIMIMIVHKNWVDLAW 0.0 7:138268707-138268707 T>C 1.0 3678 MELANOMA - - - 1 TRIM24 uc003vuc.3,p.F969S|NM_015905,p.F969S|uc003vub.3,p.F935S|ENST00000343526,p.F969S|NM_003852,p.F935S|ENST00000415680,p.F935S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003vuc.3 nonsynonymous SNV exon18 c.T2906C p.F969S SMYSKPEDFVADFRLIFQNCAEFNE SMYSKPEDFVADSRLIFQNCAEFNE 9.0 1.0 - - 3678_7:138268707-138268707 T>C_SMYSKPEDFVADSRLIFQNCAEFNE 0.0 1:17668464-17668464 G>A 0.0 4196 COLORECTAL - - - - PADI4 uc001baj.2,p.V227I|uc009vpc.2,p.V227I|NM_012387,p.V227I|ENST00000375448,p.V227I protein_coding, processed_transcript uc009vpc.2 nonsynonymous SNV exon7 c.G679A p.V227I QATRGKLSSKCSVVLGPKWPSHYLM QATRGKLSSKCSIVLGPKWPSHYLM 5.0 6.0 - - 4196_1:17668464-17668464 G>A_QATRGKLSSKCSIVLGPKWPSHYLM 0.0 15:78783042-78783042 A>G 1.0 4037 NSCLC - - ID=COSM254747;OCCURENCE=3(urinary_tract) - IREB2 uc010unb.1,p.I505V|NM_004136,p.I755V|uc002bdr.2,p.I755V|ENST00000258886,p.I755V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010unb.1 nonsynonymous SNV exon17 c.A1513G p.I505V LLYLGDSVTTDHISPAGSIARNSAA LLYLGDSVTTDHVSPAGSIARNSAA 7.0 10.0 - - 4037_15:78783042-78783042 A>G_LLYLGDSVTTDHVSPAGSIARNSAA 0.0 22:30639731-30639731 G>A 0.0 4186 BREAST - - ID=COSM1033239;OCCURENCE=1(endometrium) - LIF ENST00000249075,p.S173L|uc003agz.3,p.S173L|NM_002309,p.S173L protein_coding uc003agz.3 nonsynonymous SNV exon3 c.C518T p.S173L VGHVDVTYGPDTSGKDVFQKKKLGC VGHVDVTYGPDTLGKDVFQKKKLGC 1.0 8.0 - - 4186_22:30639731-30639731 G>A_VGHVDVTYGPDTLGKDVFQKKKLGC 0.0 9:6460703-6460703 C>G 0.0 4238 COLORECTAL - - - - UHRF2 uc003zjy.3,p.Q259E|ENST00000276893,p.Q259E|NM_152896,p.Q259E|ENST00000450508,p.Q36E|uc003zka.1,p.Q36E|ENST00000468435,p.Q259E retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003zka.1 nonsynonymous SNV exon2 c.C106G p.Q36E VVMVNYNVESPGQRGFWFDAEITTL VVMVNYNVESPGERGFWFDAEITTL 6.0 2.0 - - 4238_9:6460703-6460703 C>G_VVMVNYNVESPGERGFWFDAEITTL 0.0 8:110476992-110476992 C>T 0.0 4346 COLORECTAL - - - - PKHD1L1 ENST00000378402,p.A2644V|uc003yne.3,p.A2644V|NM_177531,p.A2644V retained_intron, protein_coding uc003yne.3 nonsynonymous SNV exon49 c.C7931T p.A2644V PMQTGSCTSTVPAPAIFNSLTTWNC PMQTGSCTSTVPVPAIFNSLTTWNC 4.0 1.0 - - 4346_8:110476992-110476992 C>T_PMQTGSCTSTVPVPAIFNSLTTWNC 0.0 8:99961325-99961325 A>T 0.0 3919 MELANOMA - - - - OSR2 NM_053001,p.M49L|ENST00000435298,p.M49L|ENST00000297565,p.M49L|ENST00000522510,p.M49L|ENST00000520951,p.M102L|ENST00000518199,p.M49L|ENST00000457907,p.M170L|ENST00000523368,p.M49L|NM_001286841,p.M170L|uc003yir.3,p.M49L|uc011lgx.2,p.M170L|NM_001142462,p.M49L|uc010mbn.2,p.M49L|uc003yiq.3,p.M49L protein_coding, processed_transcript uc011lgx.2 nonsynonymous SNV exon3 c.A508T p.M170L LQGLYGLSAVQTMHMNHWTLGYPNV LQGLYGLSAVQTLHMNHWTLGYPNV 2.0 3.0 - - 3919_8:99961325-99961325 A>T_LQGLYGLSAVQTLHMNHWTLGYPNV 0.0 17:33749122-33749122 C>A 0.0 4126 NSCLC - - - - SLFN12 NM_018042,p.R309L|ENST00000304905,p.R309L|ENST00000452764,p.R309L|uc002hji.4,p.R309L|uc002hjj.4,p.R309L|ENST00000394562,p.R309L|uc010cts.3,p.R309L|NM_001289009,p.R309L retained_intron, protein_coding, processed_transcript uc010cts.3 nonsynonymous SNV exon2 c.G926T p.R309L SLCGYVCALRVERFCCAVFAKEPDS SLCGYVCALRVELFCCAVFAKEPDS 2.0 6.0 - - 4126_17:33749122-33749122 C>A_SLCGYVCALRVELFCCAVFAKEPDS 0.0 11:61067637-61067637 C>T 1.0 2369 MELANOMA - - - - DDB1 ENST00000538470,p.V179I|ENST00000451943,p.V119I|ENST00000301764,p.V1132I|uc001nrc.5,p.V1132I|ENST00000450997,p.V443I|NM_001923,p.V1132I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001nrc.5 nonsynonymous SNV exon27 c.G3394A p.V1132I MKREATADDLIKVVEELTRIH MKREATADDLIKIVEELTRIH 10.0 7.0 - - 2369_11:61067637-61067637 C>T_MKREATADDLIKIVEELTRIH 0.0 9:37888304-37888304 G>T 1.0 4287 COLORECTAL - - - - SLC25A51 uc022bgx.1,p.R82S|ENST00000380590,p.R82S|uc004aav.2,p.R82S|NM_033412,p.R82S|ENST00000242275,p.R82S|ENST00000377716,p.R82S protein_coding, processed_transcript uc022bgx.1 nonsynonymous SNV exon1 c.C244A p.R82S LQLRRDGFRNLYRGILPPLMQKTTT LQLRRDGFRNLYSGILPPLMQKTTT 6.0 10.0 - - 4287_9:37888304-37888304 G>T_LQLRRDGFRNLYSGILPPLMQKTTT 0.0 11:92533986-92533986 G>C 0.0 4284 COLORECTAL - - - 2 FAT3 uc001pdj.4,p.V2603L|NM_001008781,p.V2603L|ENST00000409404,p.V2603L|ENST00000298047,p.V2603L|ENST00000525166,p.V2453L retained_intron, protein_coding, processed_transcript uc001pdj.4 nonsynonymous SNV exon9 c.G7807C p.V2603L VDENDNAPQFMTVEYRASVRADVGR VDENDNAPQFMTLEYRASVRADVGR 4.0 8.0 - - 4284_11:92533986-92533986 G>C_VDENDNAPQFMTLEYRASVRADVGR 0.0 14:45693418-45693418 G>A 1.0 3716 MELANOMA - - - - MIS18BP1 ENST00000310806,p.T791I|NM_018353,p.T791I|uc001wwf.3,p.T791I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc001wwf.3 nonsynonymous SNV exon11 c.C2372T p.T791I EKEIKRKAEVKKTKAGNTKEAVVHL EKEIKRKAEVKKIKAGNTKEAVVHL 8.0 9.0 - - 3716_14:45693418-45693418 G>A_EKEIKRKAEVKKIKAGNTKEAVVHL 0.0 1:65146969-65146969 G>C 0.0 4240 BREAST - - - - CACHD1 uc001dbq.1,p.E849D|uc001dbp.1,p.E849D|uc010opa.1,p.E338D|uc001dbo.1,p.E1094D|ENST00000371073,p.E1145D|NM_020925,p.E1094D|ENST00000290039,p.E1094D|NM_001293274,p.E849D retained_intron, protein_coding, processed_transcript uc010opa.1 nonsynonymous SNV exon11 c.G1014C p.E338D AAQEMSVRMSNLENDRDERDDDSHE AAQEMSVRMSNLDNDRDERDDDSHE 4.0 9.0 - - 4240_1:65146969-65146969 G>C_AAQEMSVRMSNLDNDRDERDDDSHE 0.0 13:98662384-98662384 A>G 1.0 4180 BREAST - - - - IPO5 uc001vng.1,p.D275G|ENST00000261574,p.D672G|ENST00000539640,p.D529G|uc010tik.1,p.D529G|uc010til.1,p.D594G|ENST00000490680,p.D654G|uc001vnf.1,p.D654G|NM_002271,p.D672G|uc001vne.3,p.D672G|ENST00000357602,p.D654G retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010til.1 nonsynonymous SNV exon17 c.A1781G p.D594G LLDTQDMENMSDDDGWEFVNLGDQQ LLDTQDMENMSDGDGWEFVNLGDQQ 10.0 8.0 - - 4180_13:98662384-98662384 A>G_LLDTQDMENMSDGDGWEFVNLGDQQ 0.0 15:39880416-39880416 C>T 1.0 3713 MELANOMA - - - - THBS1 ENST00000260356,p.P490S|uc001zkh.3,p.P490S|NM_003246,p.P490S retained_intron, protein_coding uc001zkh.3 nonsynonymous SNV exon9 c.C1468T p.P490S ARETKACKKDACPINGGWGPWSPWD ARETKACKKDACSINGGWGPWSPWD 10.0 9.0 - - 3713_15:39880416-39880416 C>T_ARETKACKKDACSINGGWGPWSPWD 0.0 2:183846001-183846001 C>A 0.0 4238 COLORECTAL - - - - NCKAP1 NM_205842,p.D444Y|ENST00000361354,p.D438Y|NM_013436,p.D438Y|ENST00000360982,p.D444Y|uc002upc.4,p.D438Y|uc002upb.4,p.D444Y retained_intron, protein_coding, processed_transcript uc002upc.4 nonsynonymous SNV exon13 c.G1312T p.D438Y MQRYYVQYLSGFDAVVLNELVQNLS MQRYYVQYLSGFYAVVLNELVQNLS 8.0 6.0 CD8 - 4238_2:183846001-183846001 C>A_MQRYYVQYLSGFYAVVLNELVQNLS 1.0 8:41551469-41551469 C>T 0.0 4287 COLORECTAL - - - 2 ANK1 uc003xoh.3,p.R476K|NM_020475,p.R1160K|ENST00000396942,p.R1160K|NM_020476,p.R1160K|NM_001142446,p.R1201K|ENST00000265709,p.R1201K|NM_000037,p.R1160K|uc003xol.3,p.R1160K|ENST00000352337,p.R1160K|uc003xoj.3,p.R1160K|ENST00000347528,p.R1160K|uc003xoi.3,p.R1160K|uc003xok.3,p.R1160K|ENST00000289734,p.R1160K|ENST00000379758,p.R1160K|ENST00000396945,p.R1160K|NM_020477,p.R1160K|uc003xom.3,p.R1201K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003xom.3 nonsynonymous SNV exon30 c.G3602A p.R1201K RIPLPPSWTDNPRDSGEGDTTSLRL RIPLPPSWTDNPKDSGEGDTTSLRL 3.0 8.0 - - 4287_8:41551469-41551469 C>T_RIPLPPSWTDNPKDSGEGDTTSLRL 0.0 20:45905204-45905204 G>A 1.0 3466 MELANOMA - - - - ZMYND8 ENST00000360911,p.S420F|NM_001281779,p.S177F|uc010zxz.1,p.S420F|NM_012408,p.S445F|NM_001281778,p.S420F|ENST00000458360,p.S420F|ENST00000446994,p.S362F|NM_183047,p.S445F|uc002xtc.1,p.S445F|NM_183048,p.S420F|NM_001281771,p.S420F|ENST00000262975,p.S425F|uc002xtd.1,p.S420F|uc010zya.1,p.S425F|uc002xsz.1,p.S362F|uc002xsx.1,p.S177F|uc002xta.1,p.S425F|NM_001281780,p.S177F|NM_001281781,p.S420F|NM_001281782,p.S420F|uc010ghr.1,p.S400F|NM_001281775,p.S445F|uc002xss.2,p.S425F|uc010zxy.1,p.S452F|uc002xst.1,p.S400F|uc002xte.1,p.S425F|NM_001281773,p.S425F|uc002xsv.1,p.S400F|uc002xtg.3,p.S419F|NM_001281783,p.S445F|NM_001281776,p.S445F|uc002xsw.1,p.S177F|uc002xtb.1,p.S445F|NM_001281774,p.S425F|NM_001281772,p.S425F|ENST00000355972,p.S425F|ENST00000540497,p.S420F|ENST00000536340,p.S452F|ENST00000352431,p.S445F|ENST00000471951,p.S445F|uc002xtf.1,p.S445F|ENST00000311275,p.S425F|uc002xsu.1,p.S425F|NM_001281777,p.S420F|NM_001281784,p.S420F|ENST00000372023,p.S420F|ENST00000396281,p.S425F|ENST00000461685,p.S445F|uc002xsy.1,p.S400F|uc010ghq.1,p.S102F|uc010ghs.2,p.S419F protein_coding, processed_transcript uc010zya.1 nonsynonymous SNV exon12 c.C1274T p.S425F KPVLSGGTGRRISLSDMPRSPMSTN KPVLSGGTGRRIFLSDMPRSPMSTN 10.0 3.0 - - 3466_20:45905204-45905204 G>A_KPVLSGGTGRRIFLSDMPRSPMSTN 0.0 2:98834427-98834427 C>T 0.0 4252 COLORECTAL - - - - VWA3B uc010yvi.1,p.T309I|uc002syo.3,p.T652I|uc002sym.3,p.T652I|uc002syp.1,p.T44I|ENST00000477737,p.T652I|NM_144992,p.T652I retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010yvi.1 nonsynonymous SNV exon8 c.C926T p.T309I IANRFLKEVAALTGGEFHFYNFGCK IANRFLKEVAALIGGEFHFYNFGCK 5.0 8.0 - - 4252_2:98834427-98834427 C>T_IANRFLKEVAALIGGEFHFYNFGCK 0.0 14:64701791-64701791 C>A 1.0 4110 BILE DUCT - - - - ESR2 NM_001271877,p.D344Y|NM_001040275,p.D435Y|ENST00000358599,p.D435Y|ENST00000357782,p.D435Y|ENST00000267525,p.D344Y|NM_001437,p.D435Y|ENST00000353772,p.D435Y|NM_001214902,p.D435Y|uc001xgv.3,p.D435Y|uc010aqc.1,p.D344Y|ENST00000542956,p.D435Y|NM_001271876,p.D435Y|uc001xgz.2,p.D435Y|ENST00000554572,p.D435Y|uc001xgy.2,p.D435Y|uc001xgu.3,p.D435Y|ENST00000341099,p.D435Y|uc001xha.1,p.D435Y|ENST00000556275,p.D435Y|ENST00000555278,p.D435Y|uc031qoy.1,p.D435Y|NM_001291723,p.D435Y|NM_001291712,p.D435Y|uc001xgx.3,p.D435Y|ENST00000557772,p.D435Y|ENST00000553796,p.D435Y protein_coding, processed_transcript, nonsense_mediated_decay uc031qoy.1 nonsynonymous SNV exon7 c.G1303T p.D435Y SRKLAHLLNAVTDALVWVIAKSGIS SRKLAHLLNAVTYALVWVIAKSGIS 2.0 9.0 - - 4110_14:64701791-64701791 C>A_SRKLAHLLNAVTYALVWVIAKSGIS 0.0 13:108863522-108863522 C>T 1.0 4287 COLORECTAL - - - - LIG4 ENST00000442234,p.R32H|NM_206937,p.R32H|ENST00000405925,p.R32H|uc001vqn.3,p.R32H|uc021rmk.1,p.R32H|NM_001098268,p.R32H|NM_002312,p.R32H|uc010agf.3,p.R32H|ENST00000356922,p.R32H|uc001vqp.3,p.R32H|uc001vqo.3,p.R32H protein_coding uc021rmk.1 nonsynonymous SNV exon1 c.G95A p.R32H CSTLERIQKSKGRAEKIRHFREFLD CSTLERIQKSKGHAEKIRHFREFLD 7.0 6.0 - - 4287_13:108863522-108863522 C>T_CSTLERIQKSKGHAEKIRHFREFLD 0.0 18:44426698-44426698 G>A 1.0 3713 MELANOMA - - ID=COSM1711306,COSM1711305;OCCURENCE=1(skin) - PIAS2 uc002lck.3,p.S278F|ENST00000585916,p.S278F|ENST00000324794,p.S278F|uc002lcm.3,p.S278F|uc002lcn.1,p.S282F|NM_004671,p.S278F|uc002lcl.3,p.S278F|NM_173206,p.S278F protein_coding, processed_transcript, nonsense_mediated_decay uc002lcn.1 nonsynonymous SNV exon6 c.C845T p.S282F LVRLSSAVPNQISISWASEIGKNYS LVRLSSAVPNQIFISWASEIGKNYS 7.0 2.0 - - 3713_18:44426698-44426698 G>A_LVRLSSAVPNQIFISWASEIGKNYS 0.0 20:4228802-4228802 G>A 0.0 4275 COLORECTAL - - - - ADRA1D ENST00000379453,p.A268V|NM_000678,p.A268V|uc002wkr.2,p.A268V protein_coding uc002wkr.2 nonsynonymous SNV exon1 c.C803T p.A268V VFSSVCSFYLPMAVIVVMYCRVYVV VFSSVCSFYLPMVVIVVMYCRVYVV 1.0 8.0 - - 4275_20:4228802-4228802 G>A_VFSSVCSFYLPMVVIVVMYCRVYVV 0.0 X:34150304-34150304 G>A 0.0 4281 COLORECTAL - - ID=COSM1472226;OCCURENCE=1(prostate) - FAM47A NM_203408,p.A31V|uc004ddg.3,p.A31V|ENST00000346193,p.A31V protein_coding uc004ddg.3 nonsynonymous SNV exon1 c.C92T p.A31V PWYCNKRPSKCFAKCKHRRLRFPPM PWYCNKRPSKCFVKCKHRRLRFPPM 1.0 1.0 - - 4281_X:34150304-34150304 G>A_PWYCNKRPSKCFVKCKHRRLRFPPM 0.0 15:74467621-74467621 C>T 1.0 4326 BREAST - - - - ISLR ENST00000249842,p.A141V|uc002axg.1,p.A141V|ENST00000395118,p.A141V|NM_201526,p.A141V|NM_005545,p.A141V|ENST00000560862,p.A141V|uc021sqf.1,p.A141V|uc002axh.1,p.A141V protein_coding uc021sqf.1 nonsynonymous SNV exon1 c.C422T p.A141V MDSNELTFIPRDAFRSLRALRSLQL MDSNELTFIPRDVFRSLRALRSLQL 9.0 9.0 CD8 - 4326_15:74467621-74467621 C>T_MDSNELTFIPRDVFRSLRALRSLQL 1.0 14:80328041-80328041 G>T 0.0 4126 NSCLC - - - - NRXN3 ENST00000428277,p.G372W|NM_001272020,p.G550W|uc001xur.5,p.G345W|NM_001105250,p.G372W|ENST00000557594,p.G550W|uc001xuq.3,p.G550W|uc010asw.4,p.G372W|uc001xun.4,p.G974W|ENST00000554719,p.G974W|ENST00000281127,p.G345W|ENST00000335750,p.G974W|NM_138970,p.G345W|NM_004796,p.G974W retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010asw.4 nonsynonymous SNV exon7 c.G1114T p.G372W ANPTEPGIRRVPGASEVIRESSSTT ANPTEPGIRRVPWASEVIRESSSTT 2.0 9.0 - - 4126_14:80328041-80328041 G>T_ANPTEPGIRRVPWASEVIRESSSTT 0.0 7:154002604-154002604 G>A 0.0 4245 COLORECTAL - - - - DPP6 ENST00000427557,p.A9T|NM_001290252,p.A9T|uc011kvq.2,p.A9T|NM_001936,p.A9T|ENST00000332007,p.A9T|uc010lqh.1,p.A9T|uc003wlm.3,p.A9T retained_intron, protein_coding, processed_transcript uc011kvq.2 nonsynonymous SNV exon1 c.G25A p.A9T MTTAKEPSASGKSVQQQEQEL MTTAKEPSTSGKSVQQQEQEL 3.0 7.0 - - 4245_7:154002604-154002604 G>A_MTTAKEPSTSGKSVQQQEQEL 0.0 19:2834278-2834278 G>A 1.0 4000 MELANOMA - - - - ZNF554 uc002lwl.2,p.E298K|NM_001102651,p.E349K|uc002lwm.2,p.E349K|ENST00000317243,p.E349K retained_intron, protein_coding, nonsense_mediated_decay uc002lwm.2 nonsynonymous SNV exon5 c.G1045A p.E349K HSLSEHQRIHTGEKPYECQECGRAF HSLSEHQRIHTGKKPYECQECGRAF 5.0 4.0 - - 4000_19:2834278-2834278 G>A_HSLSEHQRIHTGKKPYECQECGRAF 0.0 9:35389882-35389882 C>T 1.0 4326 BREAST - - - - UNC13B NM_006377,p.R963W|ENST00000378496,p.R963W|ENST00000396787,p.R975W|uc003zwq.3,p.R963W|ENST00000378495,p.R963W|uc003zwr.3,p.R963W protein_coding, processed_transcript uc003zwr.3 nonsynonymous SNV exon24 c.C2887T p.R963W QELPPEEQGPSIRNLDFWPKLITLI QELPPEEQGPSIWNLDFWPKLITLI 8.0 10.0 - - 4326_9:35389882-35389882 C>T_QELPPEEQGPSIWNLDFWPKLITLI 0.0 2:31133871-31133871 C>T 0.0 2556 MELANOMA - - ID=COSM1690384;OCCURENCE=1(skin) - GALNT14 uc002rnq.3,p.D499N|NM_024572,p.D519N|NM_001253827,p.D499N|uc010ymr.2,p.D484N|uc002rns.3,p.D524N|ENST00000349752,p.D519N|ENST00000420311,p.D484N|ENST00000356174,p.D486N|ENST00000324589,p.D524N|NM_001253826,p.D524N|uc002rnr.3,p.D519N|ENST00000406653,p.D499N protein_coding, processed_transcript, nonsense_mediated_decay uc010ymr.2 nonsynonymous SNV exon16 c.G1450A p.D484N SHIEHIASHLCLDTDMFGDGTENGK SHIEHIASHLCLNTDMFGDGTENGK 2.0 6.0 - - 2556_2:31133871-31133871 C>T_SHIEHIASHLCLNTDMFGDGTENGK 0.0 12:21593382-21593382 G>T 0.0 4284 COLORECTAL - - - - PYROXD1 uc001rew.3,p.Q55H|ENST00000545178,p.Q55H|NM_024854,p.Q55H|ENST00000240651,p.Q55H|ENST00000544970,p.Q55H|ENST00000543476,p.Q55H retained_intron, protein_coding, nonsense_mediated_decay uc001rew.3 nonsynonymous SNV exon2 c.G165T p.Q55H ASPVIKAVTNFKQISKILEEFDVEE ASPVIKAVTNFKHISKILEEFDVEE 7.0 6.0 - - 4284_12:21593382-21593382 G>T_ASPVIKAVTNFKHISKILEEFDVEE 0.0 18:77806030-77806030 G>A 1.0 3678 MELANOMA - - - - RBFA ENST00000306735,p.D303N|NM_024805,p.D303N|uc002lns.3,p.D303N retained_intron, protein_coding, processed_transcript uc002lns.3 nonsynonymous SNV exon7 c.G907A p.D303N SLKSYLSGEEVEDDLDLVGAPEYEC SLKSYLSGEEVENDLDLVGAPEYEC 8.0 4.0 - - 3678_18:77806030-77806030 G>A_SLKSYLSGEEVENDLDLVGAPEYEC 0.0 1:248512866-248512866 C>T 0.0 2359 MELANOMA - - - - OR14C36 ENST00000317861,p.P264S|NM_001001918,p.P264S|uc010pzl.2,p.P264S protein_coding uc010pzl.2 nonsynonymous SNV exon1 c.C790T p.P264S SCSSVYLRPPAIPAATQDLILSGFY SCSSVYLRPPAISAATQDLILSGFY 1.0 2.0 - - 2359_1:248512866-248512866 C>T_SCSSVYLRPPAISAATQDLILSGFY 0.0 6:56470483-56470483 T>A 1.0 3713 MELANOMA - - - - RNU6-71P uc021zax.1,p.E2444D|ENST00000370754,p.E2948D|ENST00000361203,p.E2770D|ENST00000439203,p.E2444D|ENST00000446842,p.E2444D|ENST00000312431,p.E2770D|ENST00000370769,p.E2770D retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021zax.1 nonsynonymous SNV exon26 c.A7332T p.E2444D LPELTDSVKGKDEYFKNMTPKVDSS LPELTDSVKGKDDYFKNMTPKVDSS 10.0 9.0 - - 3713_6:56470483-56470483 T>A_LPELTDSVKGKDDYFKNMTPKVDSS 0.0 14:90446909-90446909 G>A 1.0 4237 NSCLC - - - - TDP1 ENST00000393454,p.E273K|uc010atn.3,p.E273K|ENST00000393452,p.E273K|uc001xxy.3,p.E273K|ENST00000557782,p.E21K|uc001xxz.3,p.E273K|ENST00000335725,p.E273K|ENST00000553617,p.E174K|NM_001008744,p.E273K|ENST00000555880,p.E273K|NM_018319,p.E273K|ENST00000545686,p.E273K retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010atn.3 nonsynonymous SNV exon8 c.G817A p.E273K THHTKMMLLLYEEGLRVVIHTSNLI THHTKMMLLLYEKGLRVVIHTSNLI 8.0 7.0 - - 4237_14:90446909-90446909 G>A_THHTKMMLLLYEKGLRVVIHTSNLI 0.0 11:117314707-117314707 C>T 0.0 4213 COLORECTAL - - - - DSCAML1 NM_020693,p.A1313T|uc001prh.1,p.A1313T|ENST00000321322,p.A1313T|ENST00000527706,p.A1043T protein_coding uc001prh.1 nonsynonymous SNV exon21 c.G3937A p.A1313T YETSPEQLFYRIAHLNRGQQYLLWV YETSPEQLFYRITHLNRGQQYLLWV 3.0 9.0 - - 4213_11:117314707-117314707 C>T_YETSPEQLFYRITHLNRGQQYLLWV 0.0 7:44802526-44802526 C>T 1.0 4000 MELANOMA - - - - ZMIZ2 uc003tls.3,p.S522L|ENST00000413916,p.S490L|uc003tlr.3,p.S548L|uc003tlq.3,p.S490L|NM_174929,p.S522L|ENST00000441627,p.S548L|NM_031449,p.S548L|NM_001300959,p.S490L|ENST00000433667,p.S516L|uc003tlt.3,p.S171L|uc010kyj.3,p.S70L|ENST00000309315,p.S548L|ENST00000265346,p.S522L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc010kyj.3 nonsynonymous SNV exon3 c.C209T p.S70L FVLQLVHRPSVRSVLQGLLKKRLLP FVLQLVHRPSVRLVLQGLLKKRLLP 9.0 8.0 - - 4000_7:44802526-44802526 C>T_FVLQLVHRPSVRLVLQGLLKKRLLP 0.0 5:111506664-111506664 C>T 1.0 4326 BREAST - - - - EPB41L4A uc003kpv.1,p.E550K|NM_022140,p.E550K|uc003kpp.1,p.E177K|ENST00000261486,p.E550K retained_intron, protein_coding, processed_transcript uc003kpv.1 nonsynonymous SNV exon19 c.G1648A p.E550K RSRSRSPDIQAKEELWKHIQKELVD RSRSRSPDIQAKKELWKHIQKELVD 6.0 1.0 - - 4326_5:111506664-111506664 C>T_RSRSRSPDIQAKKELWKHIQKELVD 0.0 5:140041904-140041904 C>T 1.0 3784 MELANOMA - - - - IK uc003lgq.3,p.P555L|ENST00000417647,p.P555L|NM_006083,p.P555L retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc003lgq.3 nonsynonymous SNV exon20 c.C1664T p.P555L KKMEADGVEVKRPKY KKMEADGVEVKRLKY 10.0 8.0 - - 3784_5:140041904-140041904 C>T_KKMEADGVEVKRLKY 0.0 14:64488081-64488081 T>G 1.0 4345 COLORECTAL - - - - SYNE2 ENST00000358025,p.L1734V|uc001xgm.3,p.L1734V|uc021ruh.1,p.L1734V|ENST00000554584,p.L1734V|uc001xgl.3,p.L1734V|ENST00000344113,p.L1734V|NM_015180,p.L1734V|NM_182914,p.L1734V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc021ruh.1 nonsynonymous SNV exon35 c.T5200G p.L1734V SILNKMEHVQKCLTGESNCHALSGS SILNKMEHVQKCVTGESNCHALSGS 10.0 6.0 - - 4345_14:64488081-64488081 T>G_SILNKMEHVQKCVTGESNCHALSGS 0.0 6:28254865-28254865 C>T 1.0 4301 MELANOMA - - - - PGBD1 NM_001184743,p.P188S|NM_032507,p.P188S|uc003nky.3,p.P188S|uc003nkz.3,p.P188S|ENST00000259883,p.P188S|ENST00000405948,p.P188S protein_coding uc003nkz.3 nonsynonymous SNV exon4 c.C562T p.P188S PQGNPQEVSGPVPHGSAHLQEKNPR PQGNPQEVSGPVSHGSAHLQEKNPR 6.0 3.0 - - 4301_6:28254865-28254865 C>T_PQGNPQEVSGPVSHGSAHLQEKNPR 0.0 6:123539823-123539823 G>A 0.0 2591 MELANOMA - - - - TRDN ENST00000334268,p.P697S|uc010kem.2,p.P206S|ENST00000398178,p.P705S|NM_006073,p.P705S|uc003pzj.2,p.P705S protein_coding uc010kem.2 nonsynonymous SNV exon28 c.C616T p.P206S YLDGYNGYGFQFPFTPADRPGESSG YLDGYNGYGFQFSFTPADRPGESSG 1.0 7.0 - - 2591_6:123539823-123539823 G>A_YLDGYNGYGFQFSFTPADRPGESSG 0.0 1:248512906-248512906 C>A 0.0 4259 COLORECTAL - - - - OR14C36 ENST00000317861,p.S277Y|NM_001001918,p.S277Y|uc010pzl.2,p.S277Y protein_coding uc010pzl.2 nonsynonymous SNV exon1 c.C830A p.S277Y AATQDLILSGFYSIMPPLFNPIIYS AATQDLILSGFYYIMPPLFNPIIYS 1.0 8.0 - - 4259_1:248512906-248512906 C>A_AATQDLILSGFYYIMPPLFNPIIYS 0.0 19:30020811-30020811 G>A 0.0 4326 BREAST - - ID=COSM1392379;OCCURENCE=1(large_intestine) - VSTM2B ENST00000335523,p.R128H|uc010xrl.1,p.R128H|NM_001146339,p.R128H protein_coding uc010xrl.1 nonsynonymous SNV exon4 c.G383A p.R128H AVRLQDEGVYECRVSDYSDDDTQEH AVRLQDEGVYECHVSDYSDDDTQEH 1.0 2.0 - - 4326_19:30020811-30020811 G>A_AVRLQDEGVYECHVSDYSDDDTQEH 0.0 2:128935463-128935463 A>T 0.0 4134 NSCLC - - - - UGGT1 uc002tpr.3,p.N1204Y|uc002tps.3,p.N1228Y|ENST00000259253,p.N1228Y|ENST00000375990,p.N1204Y|NM_020120,p.N1228Y retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002tps.3 nonsynonymous SNV exon33 c.A3682T p.N1228Y VNEDLLSDGTSENESGFWDSFKWGF VNEDLLSDGTSEYESGFWDSFKWGF 9.0 7.0 - - 4134_2:128935463-128935463 A>T_VNEDLLSDGTSEYESGFWDSFKWGF 0.0 1:175046954-175046954 G>A 0.0 2591 MELANOMA - - - - TNN uc001gkl.1,p.G134R|uc010pmx.1,p.G134R|NM_022093,p.G134R|ENST00000239462,p.G134R protein_coding uc010pmx.1 nonsynonymous SNV exon1 c.G400A p.G134R MKEQCSAQRCCQGVTDLSRHCSGHG MKEQCSAQRCCQRVTDLSRHCSGHG 1.0 6.0 - - 2591_1:175046954-175046954 G>A_MKEQCSAQRCCQRVTDLSRHCSGHG 0.0 2:48132726-48132740 GGCTGCTGCTGGGGC>- 1.0 4134 NSCLC - - - 1 FBXO11 uc002rwg.2,p.40_45del|uc002rwe.3,p.40_45del|NM_001190274,p.40_45del|ENST00000403359,p.40_45del retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002rwg.2 nonframeshift deletion exon1 c.120_134del p.40_45del PQQPPPQPPQQQPPQQQPPPPPQQQ PQQPPPQPPQQQPPPPPQQQQQQQP 9.0 5.0 - - 4134_2:48132726-48132740 GGCTGCTGCTGGGGC>-_PQQPPPQPPQQQPPPPPQQQQQQQP 0.0 6:30916626-30916626 G>A 0.0 4110 BILE DUCT - - - - DPCR1 uc003nsg.2,p.G129R|NM_080870,p.G129R|ENST00000462446,p.G129R protein_coding uc003nsg.2 nonsynonymous SNV exon2 c.G385A p.G129R APPTSEENSSNQGKDPMIRNQRSVD APPTSEENSSNQRKDPMIRNQRSVD 3.0 8.0 - - 4110_6:30916626-30916626 G>A_APPTSEENSSNQRKDPMIRNQRSVD 0.0 5:82833818-82833818 G>A 0.0 3775 CERVICAL - - - - VCAN uc003kii.3,p.D1666N|uc003kij.3,p.D679N|ENST00000513960,p.D679N|ENST00000343200,p.D679N|NM_004385,p.D1666N|NM_001164097,p.D679N|uc003kil.3,p.D330N|ENST00000265077,p.D1666N retained_intron, protein_coding, processed_transcript uc003kil.3 nonsynonymous SNV exon1 c.G988A p.D330N TMVTDLSQRNTTDTLITLDTSRIIT TMVTDLSQRNTTNTLITLDTSRIIT 10.0 6.0 - - 3775_5:82833818-82833818 G>A_TMVTDLSQRNTTNTLITLDTSRIIT 0.0 10:50531479-50531479 G>A 0.0 4275 COLORECTAL 0.0005 - - - C10orf71 ENST00000374144,p.V297I|ENST00000323868,p.V297I|NM_001135196,p.V297I|uc021pqa.2,p.V297I|uc021pqb.1,p.V297I protein_coding, processed_transcript uc021pqb.1 nonsynonymous SNV exon1 c.G889A p.V297I PKLLERKDTAGTVPESKAPKHYGDT PKLLERKDTAGTIPESKAPKHYGDT 1.0 5.0 - - 4275_10:50531479-50531479 G>A_PKLLERKDTAGTIPESKAPKHYGDT 0.0 8:116616171-116616171 T>A 0.0 4346 COLORECTAL - - - - TRPS1 ENST00000519674,p.E662D|uc011lhy.2,p.E666D|NM_001282902,p.E666D|ENST00000220888,p.E662D|ENST00000519076,p.E416D|ENST00000395715,p.E675D|NM_014112,p.E675D|uc003ynz.3,p.E662D|ENST00000517323,p.E466D|uc010mcy.3,p.E662D|uc003yny.3,p.E675D|ENST00000520276,p.E666D|NM_001282903,p.E668D protein_coding, nonsense_mediated_decay uc011lhy.2 nonsynonymous SNV exon3 c.A1998T p.E666D HLQGSDGQQSVKESKEHSCTKCDFI HLQGSDGQQSVKDSKEHSCTKCDFI 5.0 8.0 - - 4346_8:116616171-116616171 T>A_HLQGSDGQQSVKDSKEHSCTKCDFI 0.0 16:29808333-29808333 C>T 1.0 3795 MELANOMA - - - - KIF22 ENST00000570173,p.P64S|ENST00000160827,p.P64S|NM_007317,p.P64S|uc002dts.4,p.P64S retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002dts.4 nonsynonymous SNV exon2 c.C190T p.P64S PFVDGTAGASDPPCVRGMDSCSLEI PFVDGTAGASDPSCVRGMDSCSLEI 9.0 5.0 - - 3795_16:29808333-29808333 C>T_PFVDGTAGASDPSCVRGMDSCSLEI 0.0 16:30012148-30012148 C>T 1.0 4275 COLORECTAL - - - - INO80E ENST00000304516,p.A92V|ENST00000567254,p.A92V|ENST00000562441,p.A92V|ENST00000563197,p.A92V|ENST00000567065,p.A92V|uc002dvg.1,p.A92V|NM_173618,p.A92V|ENST00000567705,p.A92V|ENST00000567987,p.A92V retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay uc002dvg.1 nonsynonymous SNV exon4 c.C275T p.A92V ETEGTPKLSDTPAPKRKRSPPLGGA ETEGTPKLSDTPVPKRKRSPPLGGA 10.0 2.0 - - 4275_16:30012148-30012148 C>T_ETEGTPKLSDTPVPKRKRSPPLGGA 0.0 1:93300354-93300354 G>A 1.0 3903 MELANOMA - - - 1 RPL5 NM_000969,p.E70K|ENST00000315741,p.E20K|uc001doz.3,p.E70K|ENST00000370321,p.E70K|uc001dpb.3,p.E20K protein_coding, processed_transcript uc001dpb.3 nonsynonymous SNV exon2 c.G58A p.E20K RDIICQIAYARIEGDMIVCAAYAHE RDIICQIAYARIKGDMIVCAAYAHE 10.0 5.0 - - 3903_1:93300354-93300354 G>A_RDIICQIAYARIKGDMIVCAAYAHE 0.0 2:26950735-26950735 A>G 1.0 4237 NSCLC - - - - KCNK3 uc002rhn.2,p.I162V|NM_002246,p.I162V|ENST00000302909,p.I162V protein_coding uc002rhn.2 nonsynonymous SNV exon2 c.A484G p.I162V RRADVSMANMVLIGFFSCISTLCIG RRADVSMANMVLVGFFSCISTLCIG 6.0 8.0 - - 4237_2:26950735-26950735 A>G_RRADVSMANMVLVGFFSCISTLCIG 0.0