Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 17 9501596 9501596 + Missense_Mutation SNP C C G TCGA-OR-A5JC-01A-11D-A29I-10 TCGA-OR-A5JC-10A-01D-A29L-10 g.chr17:9501596C>G c.582C>G c.(580-582)atC>atG p.I194M ACC 17 9542007 9542007 + Silent SNP C C A TCGA-OR-A5J8-01A-11D-A29I-10 TCGA-OR-A5J8-10A-01D-A29L-10 g.chr17:9542007C>A c.1554C>A c.(1552-1554)atC>atA p.I518I BLCA 17 9489122 9489122 + Missense_Mutation SNP G G A TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 g.chr17:9489122G>A c.103G>A c.(103-105)Gac>Aac p.D35N BLCA 17 9497562 9497562 + Missense_Mutation SNP G G T TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr17:9497562G>T c.460G>T c.(460-462)Gcc>Tcc p.A154S BLCA 17 9497616 9497616 + Missense_Mutation SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr17:9497616G>A c.514G>A c.(514-516)Gag>Aag p.E172K BLCA 17 9501561 9501561 + Nonsense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:9501561C>T c.547C>T c.(547-549)Cga>Tga p.R183* BLCA 17 9515734 9515734 + Silent SNP T T C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:9515734T>C c.963T>C c.(961-963)gaT>gaC p.D321D BLCA 17 9541999 9541999 + Nonsense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr17:9541999C>T c.1546C>T c.(1546-1548)Cag>Tag p.Q516* BLCA 17 9545099 9545099 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 g.chr17:9545099C>T c.1634C>T c.(1633-1635)tCt>tTt p.S545F BLCA 17 9546348 9546348 + 5'Flank SNP G G C TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr17:9546348G>C BRCA 17 9503393 9503393 + Missense_Mutation SNP G G A TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr17:9503393G>A c.646G>A c.(646-648)Gat>Aat p.D216N CESC 17 9480072 9480072 + 5'Flank SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 g.chr17:9480072C>G COAD 17 9503415 9503415 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr17:9503415G>A c.668G>A c.(667-669)gGc>gAc p.G223D COAD 17 9503462 9503462 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:9503462C>T c.715C>T c.(715-717)Ctg>Ttg p.L239L COAD 17 9511483 9511483 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:9511483C>T c.801C>T c.(799-801)ggC>ggT p.G267G COAD 17 9511527 9511527 + Missense_Mutation SNP A A T TCGA-A6-2678-01A-01W-0831-10 TCGA-A6-2678-10A-01W-0831-10 g.chr17:9511527A>T c.845A>T c.(844-846)aAa>aTa p.K282I COAD 17 9515717 9515717 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:9515717C>T c.946C>T c.(946-948)Cgt>Tgt p.R316C COAD 17 9515746 9515746 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr17:9515746G>A c.975G>A c.(973-975)acG>acA p.T325T COAD 17 9515782 9515782 + Silent SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:9515782T>C c.1011T>C c.(1009-1011)gaT>gaC p.D337D COAD 17 9536210 9536210 + Missense_Mutation SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr17:9536210A>G c.1180A>G c.(1180-1182)Aac>Gac p.N394D COAD 17 9538836 9538836 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr17:9538836G>A c.1435G>A c.(1435-1437)Gcc>Acc p.A479T COAD 17 9538845 9538845 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr17:9538845G>A c.1444G>A c.(1444-1446)Gat>Aat p.D482N COAD 17 9542014 9542014 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:9542014G>A c.1561G>A c.(1561-1563)Gga>Aga p.G521R COAD 17 9546427 9546427 + 5'Flank SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:9546427G>A COADREAD 17 9503415 9503415 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr17:9503415G>A c.668G>A c.(667-669)gGc>gAc p.G223D COADREAD 17 9503462 9503462 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:9503462C>T c.715C>T c.(715-717)Ctg>Ttg p.L239L COADREAD 17 9511483 9511483 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:9511483C>T c.801C>T c.(799-801)ggC>ggT p.G267G COADREAD 17 9511527 9511527 + Missense_Mutation SNP A A T TCGA-A6-2678-01A-01W-0831-10 TCGA-A6-2678-10A-01W-0831-10 g.chr17:9511527A>T c.845A>T c.(844-846)aAa>aTa p.K282I COADREAD 17 9515717 9515717 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:9515717C>T c.946C>T c.(946-948)Cgt>Tgt p.R316C COADREAD 17 9515746 9515746 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr17:9515746G>A c.975G>A c.(973-975)acG>acA p.T325T COADREAD 17 9515782 9515782 + Silent SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:9515782T>C c.1011T>C c.(1009-1011)gaT>gaC p.D337D COADREAD 17 9536210 9536210 + Missense_Mutation SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr17:9536210A>G c.1180A>G c.(1180-1182)Aac>Gac p.N394D COADREAD 17 9538836 9538836 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr17:9538836G>A c.1435G>A c.(1435-1437)Gcc>Acc p.A479T COADREAD 17 9538845 9538845 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr17:9538845G>A c.1444G>A c.(1444-1446)Gat>Aat p.D482N COADREAD 17 9542014 9542014 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:9542014G>A c.1561G>A c.(1561-1563)Gga>Aga p.G521R COADREAD 17 9546427 9546427 + 5'Flank SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:9546427G>A DLBC 17 9511492 9511492 + Silent SNP C C T TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr17:9511492C>T c.810C>T c.(808-810)gcC>gcT p.A270A DLBC 17 9515643 9515643 + Missense_Mutation SNP G G A TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr17:9515643G>A c.872G>A c.(871-873)gGc>gAc p.G291D ESCA 17 9489127 9489127 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr17:9489127G>T c.108G>T c.(106-108)caG>caT p.Q36H ESCA 17 9490147 9490147 + Missense_Mutation SNP G G A TCGA-R6-A8W5-01B-11D-A37C-09 TCGA-R6-A8W5-10A-01D-A37F-09 g.chr17:9490147G>A c.403G>A c.(403-405)Gga>Aga p.G135R ESCA 17 9497542 9497542 + Missense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 g.chr17:9497542C>G c.440C>G c.(439-441)gCc>gGc p.A147G GBM 17 9546402 9546402 + 5'Flank SNP G G T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 g.chr17:9546402G>T GBMLGG 17 9503430 9503430 + Missense_Mutation SNP A A C TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 g.chr17:9503430A>C c.683A>C c.(682-684)gAt>gCt p.D228A GBMLGG 17 9532104 9532104 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:9532104G>A c.1141G>A c.(1141-1143)Gac>Aac p.D381N GBMLGG 17 9536300 9536300 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:9536300G>A c.1270G>A c.(1270-1272)Gcc>Acc p.A424T GBMLGG 17 9546373 9546373 + 5'Flank SNP A A G TCGA-DU-8165-01A-11D-2253-08 TCGA-DU-8165-10A-01D-2253-08 g.chr17:9546373A>G GBMLGG 17 9546402 9546402 + 5'Flank SNP G G T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 g.chr17:9546402G>T GBMLGG 17 9546433 9546433 + 5'Flank SNP G G A TCGA-HT-7609-01A-11D-2086-08 TCGA-HT-7609-10A-01D-2086-08 g.chr17:9546433G>A HNSC 17 9515647 9515647 + Silent SNP C C A TCGA-KU-A66T-01A-11D-A30E-08 TCGA-KU-A66T-10A-01D-A30H-08 g.chr17:9515647C>A c.876C>A c.(874-876)ggC>ggA p.G292G HNSC 17 9532073 9532073 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chr17:9532073C>T c.1110C>T c.(1108-1110)atC>atT p.I370I HNSC 17 9536276 9536276 + Missense_Mutation SNP C C G TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr17:9536276C>G c.1246C>G c.(1246-1248)Cac>Gac p.H416D HNSC 17 9536340 9536340 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:9536340G>A c.1310G>A c.(1309-1311)gGg>gAg p.G437E HNSC 17 9545105 9545105 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chr17:9545105C>G c.1640C>G c.(1639-1641)tCg>tGg p.S547W KIPAN 17 9501596 9501596 + Silent SNP C C A TCGA-AT-A5NU-01A-11D-A28G-10 TCGA-AT-A5NU-10A-01D-A28G-10 g.chr17:9501596C>A c.582C>A c.(580-582)atC>atA p.I194I KIRP 17 9501596 9501596 + Silent SNP C C A TCGA-AT-A5NU-01A-11D-A28G-10 TCGA-AT-A5NU-10A-01D-A28G-10 g.chr17:9501596C>A c.582C>A c.(580-582)atC>atA p.I194I LGG 17 9503430 9503430 + Missense_Mutation SNP A A C TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 g.chr17:9503430A>C c.683A>C c.(682-684)gAt>gCt p.D228A LGG 17 9532104 9532104 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:9532104G>A c.1141G>A c.(1141-1143)Gac>Aac p.D381N LGG 17 9536300 9536300 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:9536300G>A c.1270G>A c.(1270-1272)Gcc>Acc p.A424T LGG 17 9546373 9546373 + 5'Flank SNP A A G TCGA-DU-8165-01A-11D-2253-08 TCGA-DU-8165-10A-01D-2253-08 g.chr17:9546373A>G LGG 17 9546433 9546433 + 5'Flank SNP G G A TCGA-HT-7609-01A-11D-2086-08 TCGA-HT-7609-10A-01D-2086-08 g.chr17:9546433G>A LIHC 17 9489226 9489226 + Silent SNP C C T TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr17:9489226C>T c.207C>T c.(205-207)tgC>tgT p.C69C LIHC 17 9490134 9490134 + Silent SNP A A G TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr17:9490134A>G c.390A>G c.(388-390)ggA>ggG p.G130G LIHC 17 9497562 9497562 + Missense_Mutation SNP G G A TCGA-DD-AAEH-01A-11D-A40R-10 TCGA-DD-AAEH-10A-01D-A40U-10 g.chr17:9497562G>A c.460G>A c.(460-462)Gcc>Acc p.A154T LIHC 17 9545098 9545098 + Missense_Mutation SNP T T C TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr17:9545098T>C c.1633T>C c.(1633-1635)Tct>Cct p.S545P LUAD 17 9489128 9489128 + Missense_Mutation SNP G G C TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr17:9489128G>C c.109G>C c.(109-111)Gag>Cag p.E37Q LUAD 17 9489141 9489141 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 g.chr17:9489141A>T c.122A>T c.(121-123)tAt>tTt p.Y41F LUAD 17 9489143 9489143 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 g.chr17:9489143C>T c.124C>T c.(124-126)Cct>Tct p.P42S LUAD 17 9501582 9501582 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr17:9501582C>T c.568C>T c.(568-570)Cca>Tca p.P190S LUAD 17 9501631 9501631 + Missense_Mutation SNP G G C TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr17:9501631G>C c.617G>C c.(616-618)aGa>aCa p.R206T LUAD 17 9503448 9503448 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr17:9503448C>G c.701C>G c.(700-702)cCc>cGc p.P234R LUAD 17 9503470 9503470 + Missense_Mutation SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr17:9503470T>A c.723T>A c.(721-723)gaT>gaA p.D241E LUAD 17 9511436 9511436 + Splice_Site SNP G G T TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr17:9511436G>T c.754G>T c.(754-756)Gga>Tga p.G252* LUAD 17 9511513 9511513 + Missense_Mutation SNP A A C TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr17:9511513A>C c.831A>C c.(829-831)aaA>aaC p.K277N LUAD 17 9532018 9532018 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr17:9532018C>A c.1055C>A c.(1054-1056)gCc>gAc p.A352D LUAD 17 9532031 9532031 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr17:9532031C>G c.1068C>G c.(1066-1068)atC>atG p.I356M LUAD 17 9532088 9532088 + Missense_Mutation SNP G G T TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr17:9532088G>T c.1125G>T c.(1123-1125)atG>atT p.M375I LUAD 17 9532103 9532103 + Silent SNP C C T TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr17:9532103C>T c.1140C>T c.(1138-1140)atC>atT p.I380I LUAD 17 9536222 9536222 + Missense_Mutation SNP A A C TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr17:9536222A>C c.1192A>C c.(1192-1194)Atc>Ctc p.I398L LUAD 17 9538752 9538752 + Nonsense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr17:9538752C>T c.1351C>T c.(1351-1353)Cag>Tag p.Q451* LUAD 17 9538770 9538770 + Missense_Mutation SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 g.chr17:9538770C>A c.1369C>A c.(1369-1371)Ctg>Atg p.L457M LUAD 17 9546387 9546387 + 5'Flank SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr17:9546387G>C LUAD 17 9546502 9546502 + 5'Flank SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr17:9546502C>A LUSC 17 9480081 9480081 + 5'Flank SNP T T G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr17:9480081T>G LUSC 17 9490041 9490041 + Missense_Mutation SNP G G A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr17:9490041G>A c.293G>A c.(292-294)aGa>aAa p.R98K LUSC 17 9538775 9538775 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr17:9538775G>A c.1374G>A c.(1372-1374)aaG>aaA p.K458K OV 17 9536212 9536212 + Silent SNP C C T TCGA-23-1032-01A-02W-0486-08 TCGA-23-1032-10A-01W-0486-08 g.chr17:9536212C>T c.1182C>T c.(1180-1182)aaC>aaT p.N394N OV 17 9538754 9538754 + Silent SNP G G A TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 g.chr17:9538754G>A c.1353G>A c.(1351-1353)caG>caA p.Q451Q PAAD 17 9489210 9489210 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:9489210G>A c.191G>A c.(190-192)gGc>gAc p.G64D PAAD 17 9503387 9503389 + In_Frame_Del DEL GAT GAT - TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 g.chr17:9503387_9503389delGAT c.640_642delGAT c.(640-642)gatdel p.D217del PAAD 17 9538792 9538792 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:9538792T>C c.1391T>C c.(1390-1392)gTg>gCg p.V464A PRAD 17 9489197 9489197 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:9489197C>T c.178C>T c.(178-180)Cta>Tta p.L60L SARC 17 9536293 9536293 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr17:9536293C>T c.1263C>T c.(1261-1263)acC>acT p.T421T SARC 17 9541928 9541928 + Missense_Mutation SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 g.chr17:9541928G>A c.1475G>A c.(1474-1476)cGt>cAt p.R492H SKCM 17 9489185 9489185 + Missense_Mutation SNP G G A TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr17:9489185G>A c.166G>A c.(166-168)Gag>Aag p.E56K SKCM 17 9489222 9489222 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr17:9489222C>T c.203C>T c.(202-204)tCc>tTc p.S68F SKCM 17 9497522 9497522 + Nonsense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr17:9497522G>A c.420G>A c.(418-420)tgG>tgA p.W140* SKCM 17 9497554 9497554 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr17:9497554G>A c.452G>A c.(451-453)aGc>aAc p.S151N SKCM 17 9515650 9515650 + Missense_Mutation SNP C C G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 g.chr17:9515650C>G c.879C>G c.(877-879)atC>atG p.I293M SKCM 17 9515667 9515667 + Missense_Mutation SNP G G A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr17:9515667G>A c.896G>A c.(895-897)cGa>cAa p.R299Q SKCM 17 9515667 9515667 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr17:9515667G>A c.896G>A c.(895-897)cGa>cAa p.R299Q SKCM 17 9515711 9515711 + Missense_Mutation SNP A A C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr17:9515711A>C c.940A>C c.(940-942)Att>Ctt p.I314L SKCM 17 9515755 9515755 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:9515755G>A c.984G>A c.(982-984)gcG>gcA p.A328A SKCM 17 9515788 9515788 + Silent SNP C C T TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr17:9515788C>T c.1017C>T c.(1015-1017)gtC>gtT p.V339V SKCM 17 9532059 9532059 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr17:9532059G>A c.1096G>A c.(1096-1098)Gag>Aag p.E366K SKCM 17 9536284 9536284 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr17:9536284C>T c.1254C>T c.(1252-1254)atC>atT p.I418I SKCM 17 9538775 9538775 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr17:9538775G>A c.1374G>A c.(1372-1374)aaG>aaA p.K458K SKCM 17 9538848 9538848 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr17:9538848G>A c.1447G>A c.(1447-1449)Ggg>Agg p.G483R SKCM 17 9538849 9538849 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr17:9538849G>A c.1448G>A c.(1447-1449)gGg>gAg p.G483E SKCM 17 9538850 9538850 + Silent SNP G G A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr17:9538850G>A c.1449G>A c.(1447-1449)ggG>ggA p.G483G SKCM 17 9541993 9541994 + Frame_Shift_Ins INS - - A TCGA-EE-A3J3-06A-11D-A20D-08 TCGA-EE-A3J3-10A-01D-A20D-08 g.chr17:9541993_9541994insA c.1540_1541insA c.(1540-1542)gagfs p.E514fs SKCM 17 9546490 9546490 + 5'Flank SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr17:9546490G>A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 9490146 9490146 single base substitution C T 3_prime_UTR_variant BLCA-CN 17 9490146 9490146 single base substitution C T exon_variant BLCA-CN 17 9490146 9490146 single base substitution C T intron_variant BLCA-CN 17 9490146 9490146 single base substitution C T synonymous_variant D134D 402C>T BLCA-CN 17 9490146 9490146 single base substitution C T synonymous_variant D144D 432C>T BLCA-CN 17 9490146 9490146 single base substitution C T synonymous_variant D66D 198C>T BLCA-US 17 9489122 9489122 single base substitution G A 3_prime_UTR_variant BLCA-US 17 9489122 9489122 single base substitution G A intron_variant BLCA-US 17 9489122 9489122 single base substitution G A missense_variant D35N 103G>A BLCA-US 17 9489122 9489122 single base substitution G A missense_variant D45N 133G>A BLCA-US 17 9489122 9489122 single base substitution G A upstream_gene_variant BLCA-US 17 9545099 9545099 single base substitution C T 3_prime_UTR_variant BLCA-US 17 9545099 9545099 single base substitution C T downstream_gene_variant BLCA-US 17 9545099 9545099 single base substitution C T intron_variant BLCA-US 17 9545099 9545099 single base substitution C T missense_variant S477F 1430C>T BLCA-US 17 9545099 9545099 single base substitution C T missense_variant S545F 1634C>T BLCA-US 17 9545099 9545099 single base substitution C T missense_variant S555F 1664C>T BOCA-FR 17 9503442 9503442 single base substitution T C 3_prime_UTR_variant BOCA-FR 17 9503442 9503442 single base substitution T C downstream_gene_variant BOCA-FR 17 9503442 9503442 single base substitution T C missense_variant M164T 491T>C BOCA-FR 17 9503442 9503442 single base substitution T C missense_variant M232T 695T>C BOCA-FR 17 9503442 9503442 single base substitution T C missense_variant M242T 725T>C BOCA-FR 17 9532209 9532209 single base substitution A C intron_variant BOCA-FR 17 9532209 9532209 single base substitution A C upstream_gene_variant BRCA-EU 17 9475852 9475852 single base substitution G A upstream_gene_variant BRCA-EU 17 9477840 9477840 single base substitution A G upstream_gene_variant BRCA-EU 17 9478260 9478260 single base substitution G C upstream_gene_variant BRCA-EU 17 9478422 9478422 single base substitution T C upstream_gene_variant BRCA-EU 17 9479808 9479808 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 9480821 9480821 single base substitution G C intron_variant BRCA-EU 17 9481065 9481065 single base substitution G T intron_variant BRCA-EU 17 9481193 9481193 single base substitution G C intron_variant BRCA-EU 17 9482629 9482629 single base substitution G C intron_variant BRCA-EU 17 9482629 9482629 single base substitution G C upstream_gene_variant BRCA-EU 17 9484056 9484056 single base substitution A G intron_variant BRCA-EU 17 9484056 9484056 single base substitution A G upstream_gene_variant BRCA-EU 17 9485990 9485990 single base substitution G T intron_variant BRCA-EU 17 9485990 9485990 single base substitution G T upstream_gene_variant BRCA-EU 17 9486666 9486666 single base substitution C T intron_variant BRCA-EU 17 9486666 9486666 single base substitution C T upstream_gene_variant BRCA-EU 17 9487846 9487846 single base substitution A G intron_variant BRCA-EU 17 9487846 9487846 single base substitution A G upstream_gene_variant BRCA-EU 17 9489837 9489837 single base substitution C T intron_variant BRCA-EU 17 9492154 9492154 single base substitution C A intron_variant BRCA-EU 17 9493769 9493769 single base substitution C T intron_variant BRCA-EU 17 9495762 9495762 single base substitution G T intron_variant BRCA-EU 17 9498641 9498641 single base substitution A G downstream_gene_variant BRCA-EU 17 9498641 9498641 single base substitution A G intron_variant BRCA-EU 17 9498737 9498737 single base substitution T C downstream_gene_variant BRCA-EU 17 9498737 9498737 single base substitution T C intron_variant BRCA-EU 17 9498874 9498874 single base substitution C T downstream_gene_variant BRCA-EU 17 9498874 9498874 single base substitution C T intron_variant BRCA-EU 17 9500200 9500200 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 9500200 9500200 deletion of <=200bp T - intron_variant BRCA-EU 17 9500707 9500707 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 9500707 9500707 deletion of <=200bp T - intron_variant BRCA-EU 17 9501307 9501307 single base substitution G A downstream_gene_variant BRCA-EU 17 9501307 9501307 single base substitution G A intron_variant BRCA-EU 17 9501641 9501641 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 9501641 9501641 single base substitution G C downstream_gene_variant BRCA-EU 17 9501641 9501641 single base substitution G C exon_variant BRCA-EU 17 9501641 9501641 single base substitution G C missense_variant M141I 423G>C BRCA-EU 17 9501641 9501641 single base substitution G C missense_variant M209I 627G>C BRCA-EU 17 9501641 9501641 single base substitution G C missense_variant M219I 657G>C BRCA-EU 17 9501872 9501872 single base substitution A G downstream_gene_variant BRCA-EU 17 9501872 9501872 single base substitution A G exon_variant BRCA-EU 17 9501872 9501872 single base substitution A G intron_variant BRCA-EU 17 9503658 9503658 single base substitution A G downstream_gene_variant BRCA-EU 17 9503658 9503658 single base substitution A G intron_variant BRCA-EU 17 9504938 9504938 single base substitution G A downstream_gene_variant BRCA-EU 17 9504938 9504938 single base substitution G A intron_variant BRCA-EU 17 9505762 9505762 single base substitution G T downstream_gene_variant BRCA-EU 17 9505762 9505762 single base substitution G T intron_variant BRCA-EU 17 9507413 9507413 insertion of <=200bp - A downstream_gene_variant BRCA-EU 17 9507413 9507413 insertion of <=200bp - A intron_variant BRCA-EU 17 9507695 9507695 single base substitution G C downstream_gene_variant BRCA-EU 17 9507695 9507695 single base substitution G C intron_variant BRCA-EU 17 9507724 9507724 single base substitution A G downstream_gene_variant BRCA-EU 17 9507724 9507724 single base substitution A G intron_variant BRCA-EU 17 9507739 9507739 single base substitution C G downstream_gene_variant BRCA-EU 17 9507739 9507739 single base substitution C G intron_variant BRCA-EU 17 9507892 9507892 deletion of <=200bp G - downstream_gene_variant BRCA-EU 17 9507892 9507892 deletion of <=200bp G - intron_variant BRCA-EU 17 9508180 9508180 single base substitution C T downstream_gene_variant BRCA-EU 17 9508180 9508180 single base substitution C T intron_variant BRCA-EU 17 9508755 9508755 single base substitution G A intron_variant BRCA-EU 17 9509376 9509376 single base substitution T A intron_variant BRCA-EU 17 9510230 9510230 single base substitution A G intron_variant BRCA-EU 17 9510307 9510307 single base substitution C A intron_variant BRCA-EU 17 9511705 9511705 single base substitution C T intron_variant BRCA-EU 17 9512876 9512876 single base substitution G A intron_variant BRCA-EU 17 9513945 9513945 single base substitution G A intron_variant BRCA-EU 17 9518915 9518915 single base substitution C G downstream_gene_variant BRCA-EU 17 9518915 9518915 single base substitution C G intron_variant BRCA-EU 17 9519313 9519313 single base substitution C T downstream_gene_variant BRCA-EU 17 9519313 9519313 single base substitution C T intron_variant BRCA-EU 17 9519485 9519485 single base substitution G A downstream_gene_variant BRCA-EU 17 9519485 9519485 single base substitution G A intron_variant BRCA-EU 17 9525765 9525765 single base substitution C T intron_variant BRCA-EU 17 9526515 9526515 single base substitution C G intron_variant BRCA-EU 17 9526703 9526703 single base substitution C G intron_variant BRCA-EU 17 9528014 9528014 deletion of <=200bp T - intron_variant BRCA-EU 17 9528284 9528284 single base substitution C T intron_variant BRCA-EU 17 9528499 9528499 single base substitution G C intron_variant BRCA-EU 17 9528507 9528507 deletion of <=200bp A - intron_variant BRCA-EU 17 9529547 9529547 single base substitution G C intron_variant BRCA-EU 17 9533832 9533832 single base substitution C T intron_variant BRCA-EU 17 9533832 9533832 single base substitution C T upstream_gene_variant BRCA-EU 17 9534702 9534702 single base substitution C A intron_variant BRCA-EU 17 9534702 9534702 single base substitution C A upstream_gene_variant BRCA-EU 17 9535558 9535558 single base substitution C G intron_variant BRCA-EU 17 9535558 9535558 single base substitution C G upstream_gene_variant BRCA-EU 17 9535733 9535733 single base substitution T G intron_variant BRCA-EU 17 9535733 9535733 single base substitution T G upstream_gene_variant BRCA-EU 17 9535734 9535734 single base substitution G A intron_variant BRCA-EU 17 9535734 9535734 single base substitution G A upstream_gene_variant BRCA-EU 17 9536174 9536174 single base substitution C G intron_variant BRCA-EU 17 9536174 9536174 single base substitution C G upstream_gene_variant BRCA-EU 17 9537151 9537151 single base substitution G A intron_variant BRCA-EU 17 9537151 9537151 single base substitution G A upstream_gene_variant BRCA-EU 17 9537161 9537161 deletion of <=200bp T - intron_variant BRCA-EU 17 9537161 9537161 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 9542038 9542038 single base substitution C T intron_variant BRCA-EU 17 9542357 9542357 single base substitution G A exon_variant BRCA-EU 17 9542357 9542357 single base substitution G A intron_variant BRCA-EU 17 9542411 9542411 single base substitution G T exon_variant BRCA-EU 17 9542411 9542411 single base substitution G T intron_variant BRCA-EU 17 9542412 9542412 single base substitution C A exon_variant BRCA-EU 17 9542412 9542412 single base substitution C A intron_variant BRCA-EU 17 9543546 9543546 single base substitution T A downstream_gene_variant BRCA-EU 17 9543546 9543546 single base substitution T A intron_variant BRCA-EU 17 9543759 9543759 single base substitution G A downstream_gene_variant BRCA-EU 17 9543759 9543759 single base substitution G A intron_variant BRCA-EU 17 9543793 9543796 deletion of <=200bp GTAA - downstream_gene_variant BRCA-EU 17 9543793 9543796 deletion of <=200bp GTAA - intron_variant BRCA-EU 17 9544508 9544508 single base substitution C T downstream_gene_variant BRCA-EU 17 9544508 9544508 single base substitution C T intron_variant BRCA-EU 17 9546378 9546378 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 9546378 9546378 single base substitution G A downstream_gene_variant BRCA-EU 17 9546378 9546378 single base substitution G A missense_variant E508K 1522G>A BRCA-EU 17 9546378 9546378 single base substitution G A missense_variant E576K 1726G>A BRCA-EU 17 9546378 9546378 single base substitution G A missense_variant E586K 1756G>A BRCA-EU 17 9546378 9546378 single base substitution G A missense_variant M89I 267G>A BRCA-EU 17 9548000 9548000 single base substitution T C downstream_gene_variant BRCA-EU 17 9548907 9548907 single base substitution C T downstream_gene_variant BRCA-EU 17 9549132 9549132 single base substitution C T downstream_gene_variant BRCA-FR 17 9475852 9475852 single base substitution G A upstream_gene_variant BRCA-FR 17 9478149 9478149 single base substitution C T upstream_gene_variant BRCA-FR 17 9486666 9486666 single base substitution C T intron_variant BRCA-FR 17 9486666 9486666 single base substitution C T upstream_gene_variant BRCA-FR 17 9507739 9507739 single base substitution C G downstream_gene_variant BRCA-FR 17 9507739 9507739 single base substitution C G intron_variant BRCA-FR 17 9508180 9508180 single base substitution C T downstream_gene_variant BRCA-FR 17 9508180 9508180 single base substitution C T intron_variant BRCA-FR 17 9518915 9518915 single base substitution C G downstream_gene_variant BRCA-FR 17 9518915 9518915 single base substitution C G intron_variant BRCA-FR 17 9532616 9532616 single base substitution C T intron_variant BRCA-FR 17 9532616 9532616 single base substitution C T upstream_gene_variant BRCA-FR 17 9543759 9543759 single base substitution G A downstream_gene_variant BRCA-FR 17 9543759 9543759 single base substitution G A intron_variant BRCA-FR 17 9548907 9548907 single base substitution C T downstream_gene_variant BRCA-FR 17 9549132 9549132 single base substitution C T downstream_gene_variant BRCA-UK 17 9504225 9504225 single base substitution A T downstream_gene_variant BRCA-UK 17 9504225 9504225 single base substitution A T intron_variant BRCA-UK 17 9531072 9531072 single base substitution C G intron_variant BRCA-UK 17 9533375 9533375 single base substitution C T intron_variant BRCA-UK 17 9533375 9533375 single base substitution C T upstream_gene_variant BRCA-UK 17 9542038 9542038 single base substitution C T intron_variant BRCA-UK 17 9545119 9545119 single base substitution G C 3_prime_UTR_variant BRCA-UK 17 9545119 9545119 single base substitution G C downstream_gene_variant BRCA-UK 17 9545119 9545119 single base substitution G C intron_variant BRCA-UK 17 9545119 9545119 single base substitution G C missense_variant D484H 1450G>C BRCA-UK 17 9545119 9545119 single base substitution G C missense_variant D552H 1654G>C BRCA-UK 17 9545119 9545119 single base substitution G C missense_variant D562H 1684G>C BRCA-US 17 9487654 9487654 single base substitution C T 3_prime_UTR_variant BRCA-US 17 9487654 9487654 single base substitution C T intron_variant BRCA-US 17 9487654 9487654 single base substitution C T synonymous_variant V22V 66C>T BRCA-US 17 9487654 9487654 single base substitution C T upstream_gene_variant BRCA-US 17 9503393 9503393 single base substitution G A 3_prime_UTR_variant BRCA-US 17 9503393 9503393 single base substitution G A downstream_gene_variant BRCA-US 17 9503393 9503393 single base substitution G A missense_variant D148N 442G>A BRCA-US 17 9503393 9503393 single base substitution G A missense_variant D216N 646G>A BRCA-US 17 9503393 9503393 single base substitution G A missense_variant D226N 676G>A BTCA-JP 17 9489936 9489936 single base substitution T G intron_variant BTCA-JP 17 9489997 9489997 single base substitution G A intron_variant BTCA-JP 17 9501533 9501533 deletion of <=200bp T - downstream_gene_variant BTCA-JP 17 9501533 9501533 deletion of <=200bp T - intron_variant BTCA-JP 17 9515646 9515646 single base substitution G T 3_prime_UTR_variant BTCA-JP 17 9515646 9515646 single base substitution G T missense_variant G224V 671G>T BTCA-JP 17 9515646 9515646 single base substitution G T missense_variant G292V 875G>T BTCA-JP 17 9515646 9515646 single base substitution G T missense_variant G302V 905G>T BTCA-JP 17 9536199 9536199 single base substitution T C splice_region_variant BTCA-JP 17 9536199 9536199 single base substitution T C upstream_gene_variant CESC-US 17 9480072 9480072 single base substitution C G exon_variant CESC-US 17 9480072 9480072 single base substitution C G missense_variant I20M 60C>G CESC-US 17 9549282 9549282 single base substitution C T downstream_gene_variant CLLE-ES 17 9494222 9494222 single base substitution T C intron_variant CLLE-ES 17 9500041 9500041 single base substitution T G downstream_gene_variant CLLE-ES 17 9500041 9500041 single base substitution T G intron_variant CLLE-ES 17 9500585 9500585 single base substitution T G downstream_gene_variant CLLE-ES 17 9500585 9500585 single base substitution T G intron_variant CLLE-ES 17 9526756 9526756 single base substitution A C intron_variant CLLE-ES 17 9534791 9534791 single base substitution T G intron_variant CLLE-ES 17 9534791 9534791 single base substitution T G upstream_gene_variant CLLE-ES 17 9542064 9542064 single base substitution C T intron_variant COAD-US 17 9497560 9497560 single base substitution C T 3_prime_UTR_variant COAD-US 17 9497560 9497560 single base substitution C T exon_variant COAD-US 17 9497560 9497560 single base substitution C T intron_variant COAD-US 17 9497560 9497560 single base substitution C T missense_variant A153V 458C>T COAD-US 17 9497560 9497560 single base substitution C T missense_variant A163V 488C>T COAD-US 17 9497560 9497560 single base substitution C T missense_variant A85V 254C>T COAD-US 17 9503462 9503462 single base substitution C T 3_prime_UTR_variant COAD-US 17 9503462 9503462 single base substitution C T downstream_gene_variant COAD-US 17 9503462 9503462 single base substitution C T synonymous_variant L171L 511C>T COAD-US 17 9503462 9503462 single base substitution C T synonymous_variant L239L 715C>T COAD-US 17 9503462 9503462 single base substitution C T synonymous_variant L249L 745C>T COAD-US 17 9511483 9511483 single base substitution C T 3_prime_UTR_variant COAD-US 17 9511483 9511483 single base substitution C T synonymous_variant G199G 597C>T COAD-US 17 9511483 9511483 single base substitution C T synonymous_variant G267G 801C>T COAD-US 17 9511483 9511483 single base substitution C T synonymous_variant G277G 831C>T COAD-US 17 9515717 9515717 single base substitution C T 3_prime_UTR_variant COAD-US 17 9515717 9515717 single base substitution C T downstream_gene_variant COAD-US 17 9515717 9515717 single base substitution C T missense_variant R248C 742C>T COAD-US 17 9515717 9515717 single base substitution C T missense_variant R316C 946C>T COAD-US 17 9515717 9515717 single base substitution C T missense_variant R326C 976C>T COAD-US 17 9515746 9515746 single base substitution G A 3_prime_UTR_variant COAD-US 17 9515746 9515746 single base substitution G A downstream_gene_variant COAD-US 17 9515746 9515746 single base substitution G A synonymous_variant T257T 771G>A COAD-US 17 9515746 9515746 single base substitution G A synonymous_variant T325T 975G>A COAD-US 17 9515746 9515746 single base substitution G A synonymous_variant T335T 1005G>A COAD-US 17 9542014 9542014 single base substitution G A 3_prime_UTR_variant COAD-US 17 9542014 9542014 single base substitution G A exon_variant COAD-US 17 9542014 9542014 single base substitution G A missense_variant G453R 1357G>A COAD-US 17 9542014 9542014 single base substitution G A missense_variant G521R 1561G>A COAD-US 17 9542014 9542014 single base substitution G A missense_variant G531R 1591G>A COAD-US 17 9542014 9542014 single base substitution G A missense_variant G72R 214G>A COAD-US 17 9549381 9549381 single base substitution C T downstream_gene_variant COCA-CN 17 9489914 9489914 single base substitution G A intron_variant COCA-CN 17 9490123 9490123 single base substitution G C 3_prime_UTR_variant COCA-CN 17 9490123 9490123 single base substitution G C exon_variant COCA-CN 17 9490123 9490123 single base substitution G C intron_variant COCA-CN 17 9490123 9490123 single base substitution G C missense_variant V127L 379G>C COCA-CN 17 9490123 9490123 single base substitution G C missense_variant V137L 409G>C COCA-CN 17 9490123 9490123 single base substitution G C missense_variant V59L 175G>C COCA-CN 17 9490123 9490123 single base substitution G C missense_variant W125C 375G>C COCA-CN 17 9490170 9490170 single base substitution T G intron_variant COCA-CN 17 9497486 9497486 single base substitution T G intron_variant COCA-CN 17 9501639 9501639 single base substitution A T 3_prime_UTR_variant COCA-CN 17 9501639 9501639 single base substitution A T downstream_gene_variant COCA-CN 17 9501639 9501639 single base substitution A T exon_variant COCA-CN 17 9501639 9501639 single base substitution A T missense_variant M141L 421A>T COCA-CN 17 9501639 9501639 single base substitution A T missense_variant M209L 625A>T COCA-CN 17 9501639 9501639 single base substitution A T missense_variant M219L 655A>T COCA-CN 17 9515884 9515884 single base substitution A G downstream_gene_variant COCA-CN 17 9515884 9515884 single base substitution A G intron_variant COCA-CN 17 9524933 9524933 single base substitution A C intron_variant COCA-CN 17 9542042 9542042 single base substitution G T intron_variant COCA-CN 17 9545080 9545080 single base substitution G T 3_prime_UTR_variant COCA-CN 17 9545080 9545080 single base substitution G T downstream_gene_variant COCA-CN 17 9545080 9545080 single base substitution G T intron_variant COCA-CN 17 9545080 9545080 single base substitution G T stop_gained E471* 1411G>T COCA-CN 17 9545080 9545080 single base substitution G T stop_gained E539* 1615G>T COCA-CN 17 9545080 9545080 single base substitution G T stop_gained E549* 1645G>T COCA-CN 17 9546328 9546329 deletion of <=200bp TA - downstream_gene_variant COCA-CN 17 9546328 9546329 deletion of <=200bp TA - intron_variant EOPC-DE 17 9490270 9490270 single base substitution G T intron_variant EOPC-DE 17 9499590 9499590 single base substitution T C downstream_gene_variant EOPC-DE 17 9499590 9499590 single base substitution T C intron_variant EOPC-DE 17 9542143 9542143 single base substitution G A intron_variant EOPC-DE 17 9545321 9545321 single base substitution C G downstream_gene_variant EOPC-DE 17 9545321 9545321 single base substitution C G intron_variant ESAD-UK 17 9477886 9477886 single base substitution G A upstream_gene_variant ESAD-UK 17 9478167 9478167 deletion of <=200bp A - upstream_gene_variant ESAD-UK 17 9487753 9487753 single base substitution T G intron_variant ESAD-UK 17 9487753 9487753 single base substitution T G upstream_gene_variant ESAD-UK 17 9488443 9488443 single base substitution G A intron_variant ESAD-UK 17 9488443 9488443 single base substitution G A upstream_gene_variant ESAD-UK 17 9488844 9488844 single base substitution C A intron_variant ESAD-UK 17 9488844 9488844 single base substitution C A upstream_gene_variant ESAD-UK 17 9491849 9491849 single base substitution G T intron_variant ESAD-UK 17 9492782 9492782 single base substitution G T intron_variant ESAD-UK 17 9492839 9492839 single base substitution T C intron_variant ESAD-UK 17 9494141 9494141 single base substitution G T intron_variant ESAD-UK 17 9495634 9495634 single base substitution T A intron_variant ESAD-UK 17 9498324 9498324 single base substitution C T downstream_gene_variant ESAD-UK 17 9498324 9498324 single base substitution C T intron_variant ESAD-UK 17 9498468 9498468 single base substitution A G downstream_gene_variant ESAD-UK 17 9498468 9498468 single base substitution A G intron_variant ESAD-UK 17 9499775 9499775 single base substitution C G downstream_gene_variant ESAD-UK 17 9499775 9499775 single base substitution C G intron_variant ESAD-UK 17 9503857 9503857 single base substitution G A downstream_gene_variant ESAD-UK 17 9503857 9503857 single base substitution G A intron_variant ESAD-UK 17 9505446 9505446 deletion of <=200bp T - downstream_gene_variant ESAD-UK 17 9505446 9505446 deletion of <=200bp T - intron_variant ESAD-UK 17 9506557 9506557 single base substitution G A downstream_gene_variant ESAD-UK 17 9506557 9506557 single base substitution G A intron_variant ESAD-UK 17 9506762 9506762 single base substitution G A downstream_gene_variant ESAD-UK 17 9506762 9506762 single base substitution G A intron_variant ESAD-UK 17 9506994 9506994 single base substitution C A downstream_gene_variant ESAD-UK 17 9506994 9506994 single base substitution C A intron_variant ESAD-UK 17 9507874 9507874 single base substitution C A downstream_gene_variant ESAD-UK 17 9507874 9507874 single base substitution C A intron_variant ESAD-UK 17 9509470 9509470 single base substitution C A intron_variant ESAD-UK 17 9511319 9511319 deletion of <=200bp T - intron_variant ESAD-UK 17 9513832 9513832 single base substitution G T intron_variant ESAD-UK 17 9513955 9513955 single base substitution G C intron_variant ESAD-UK 17 9514094 9514094 single base substitution G A intron_variant ESAD-UK 17 9514313 9514313 single base substitution G C intron_variant ESAD-UK 17 9514406 9514406 single base substitution T C intron_variant ESAD-UK 17 9514474 9514474 single base substitution G A intron_variant ESAD-UK 17 9514620 9514620 single base substitution G A intron_variant ESAD-UK 17 9514989 9514989 single base substitution G C intron_variant ESAD-UK 17 9515477 9515477 single base substitution G A intron_variant ESAD-UK 17 9516751 9516751 single base substitution C T downstream_gene_variant ESAD-UK 17 9516751 9516751 single base substitution C T intron_variant ESAD-UK 17 9516801 9516801 single base substitution T C downstream_gene_variant ESAD-UK 17 9516801 9516801 single base substitution T C intron_variant ESAD-UK 17 9516853 9516853 single base substitution G A downstream_gene_variant ESAD-UK 17 9516853 9516853 single base substitution G A intron_variant ESAD-UK 17 9517360 9517360 deletion of <=200bp T - downstream_gene_variant ESAD-UK 17 9517360 9517360 deletion of <=200bp T - intron_variant ESAD-UK 17 9518930 9518930 single base substitution C A downstream_gene_variant ESAD-UK 17 9518930 9518930 single base substitution C A intron_variant ESAD-UK 17 9518997 9518997 single base substitution C T downstream_gene_variant ESAD-UK 17 9518997 9518997 single base substitution C T intron_variant ESAD-UK 17 9526577 9526577 single base substitution T G intron_variant ESAD-UK 17 9532530 9532530 single base substitution T C intron_variant ESAD-UK 17 9532530 9532530 single base substitution T C upstream_gene_variant ESAD-UK 17 9535312 9535312 single base substitution C G intron_variant ESAD-UK 17 9535312 9535312 single base substitution C G upstream_gene_variant ESAD-UK 17 9536314 9536314 single base substitution C G 3_prime_UTR_variant ESAD-UK 17 9536314 9536314 single base substitution C G exon_variant ESAD-UK 17 9536314 9536314 single base substitution C G missense_variant D360E 1080C>G ESAD-UK 17 9536314 9536314 single base substitution C G missense_variant D428E 1284C>G ESAD-UK 17 9536314 9536314 single base substitution C G missense_variant D438E 1314C>G ESAD-UK 17 9536314 9536314 single base substitution C G upstream_gene_variant ESAD-UK 17 9536371 9536371 insertion of <=200bp - A intron_variant ESAD-UK 17 9536371 9536371 insertion of <=200bp - A upstream_gene_variant ESAD-UK 17 9538147 9538147 single base substitution C T intron_variant ESAD-UK 17 9538147 9538147 single base substitution C T upstream_gene_variant ESAD-UK 17 9538836 9538836 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 9538836 9538836 single base substitution G A exon_variant ESAD-UK 17 9538836 9538836 single base substitution G A missense_variant A30T 88G>A ESAD-UK 17 9538836 9538836 single base substitution G A missense_variant A411T 1231G>A ESAD-UK 17 9538836 9538836 single base substitution G A missense_variant A479T 1435G>A ESAD-UK 17 9538836 9538836 single base substitution G A missense_variant A489T 1465G>A ESAD-UK 17 9539388 9539388 single base substitution G A intron_variant ESAD-UK 17 9540232 9540232 single base substitution C T intron_variant ESAD-UK 17 9541442 9541442 single base substitution T C intron_variant ESAD-UK 17 9542234 9542234 single base substitution C T intron_variant ESAD-UK 17 9542944 9542944 single base substitution T C downstream_gene_variant ESAD-UK 17 9542944 9542944 single base substitution T C intron_variant ESAD-UK 17 9543922 9543922 single base substitution G A downstream_gene_variant ESAD-UK 17 9543922 9543922 single base substitution G A intron_variant ESAD-UK 17 9544015 9544015 single base substitution A C downstream_gene_variant ESAD-UK 17 9544015 9544015 single base substitution A C intron_variant ESAD-UK 17 9544468 9544468 single base substitution G C downstream_gene_variant ESAD-UK 17 9544468 9544468 single base substitution G C intron_variant ESAD-UK 17 9546474 9546474 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 9546474 9546474 single base substitution G A downstream_gene_variant ESAD-UK 17 9546474 9546474 single base substitution G A missense_variant D540N 1618G>A ESAD-UK 17 9546474 9546474 single base substitution G A missense_variant D608N 1822G>A ESAD-UK 17 9546474 9546474 single base substitution G A missense_variant D618N 1852G>A ESAD-UK 17 9550593 9550593 single base substitution T C downstream_gene_variant ESCA-CN 17 9501626 9501626 single base substitution G A 3_prime_UTR_variant ESCA-CN 17 9501626 9501626 single base substitution G A downstream_gene_variant ESCA-CN 17 9501626 9501626 single base substitution G A exon_variant ESCA-CN 17 9501626 9501626 single base substitution G A synonymous_variant L136L 408G>A ESCA-CN 17 9501626 9501626 single base substitution G A synonymous_variant L204L 612G>A ESCA-CN 17 9501626 9501626 single base substitution G A synonymous_variant L214L 642G>A ESCA-CN 17 9546550 9546551 deletion of <=200bp CG - 3_prime_UTR_variant ESCA-CN 17 9546550 9546551 deletion of <=200bp CG - downstream_gene_variant GBM-US 17 9546402 9546402 single base substitution G T 3_prime_UTR_variant GBM-US 17 9546402 9546402 single base substitution G T downstream_gene_variant GBM-US 17 9546402 9546402 single base substitution G T missense_variant V516L 1546G>T GBM-US 17 9546402 9546402 single base substitution G T missense_variant V584L 1750G>T GBM-US 17 9546402 9546402 single base substitution G T missense_variant V594L 1780G>T KIRP-US 17 9501596 9501596 single base substitution C A 3_prime_UTR_variant KIRP-US 17 9501596 9501596 single base substitution C A downstream_gene_variant KIRP-US 17 9501596 9501596 single base substitution C A exon_variant KIRP-US 17 9501596 9501596 single base substitution C A synonymous_variant I126I 378C>A KIRP-US 17 9501596 9501596 single base substitution C A synonymous_variant I194I 582C>A KIRP-US 17 9501596 9501596 single base substitution C A synonymous_variant I204I 612C>A KIRP-US 17 9503401 9503401 insertion of <=200bp - T 3_prime_UTR_variant KIRP-US 17 9503401 9503401 insertion of <=200bp - T downstream_gene_variant KIRP-US 17 9503401 9503401 insertion of <=200bp - T frameshift_variant S150S? KIRP-US 17 9503401 9503401 insertion of <=200bp - T frameshift_variant S218S? KIRP-US 17 9503401 9503401 insertion of <=200bp - T frameshift_variant S228S? LAML-KR 17 9514145 9514145 single base substitution C T intron_variant LAML-KR 17 9528779 9528779 single base substitution T C intron_variant LAML-KR 17 9536109 9536109 single base substitution C T intron_variant LAML-KR 17 9536109 9536109 single base substitution C T upstream_gene_variant LGG-US 17 9546373 9546373 single base substitution A G 3_prime_UTR_variant LGG-US 17 9546373 9546373 single base substitution A G downstream_gene_variant LGG-US 17 9546373 9546373 single base substitution A G missense_variant I88V 262A>G LGG-US 17 9546373 9546373 single base substitution A G missense_variant Y506C 1517A>G LGG-US 17 9546373 9546373 single base substitution A G missense_variant Y574C 1721A>G LGG-US 17 9546373 9546373 single base substitution A G missense_variant Y584C 1751A>G LIAD-FR 17 9538851 9538851 single base substitution A G 3_prime_UTR_variant LIAD-FR 17 9538851 9538851 single base substitution A G exon_variant LIAD-FR 17 9538851 9538851 single base substitution A G missense_variant T35A 103A>G LIAD-FR 17 9538851 9538851 single base substitution A G missense_variant T416A 1246A>G LIAD-FR 17 9538851 9538851 single base substitution A G missense_variant T484A 1450A>G LIAD-FR 17 9538851 9538851 single base substitution A G missense_variant T494A 1480A>G LIAD-FR 17 9541942 9541942 single base substitution C G 3_prime_UTR_variant LIAD-FR 17 9541942 9541942 single base substitution C G exon_variant LIAD-FR 17 9541942 9541942 single base substitution C G missense_variant Q429E 1285C>G LIAD-FR 17 9541942 9541942 single base substitution C G missense_variant Q48E 142C>G LIAD-FR 17 9541942 9541942 single base substitution C G missense_variant Q497E 1489C>G LIAD-FR 17 9541942 9541942 single base substitution C G missense_variant Q507E 1519C>G LICA-CN 17 9538822 9538822 single base substitution A T 3_prime_UTR_variant LICA-CN 17 9538822 9538822 single base substitution A T exon_variant LICA-CN 17 9538822 9538822 single base substitution A T missense_variant E25V 74A>T LICA-CN 17 9538822 9538822 single base substitution A T missense_variant E406V 1217A>T LICA-CN 17 9538822 9538822 single base substitution A T missense_variant E474V 1421A>T LICA-CN 17 9538822 9538822 single base substitution A T missense_variant E484V 1451A>T LICA-FR 17 9475238 9475238 deletion of <=200bp A - upstream_gene_variant LICA-FR 17 9495818 9495818 single base substitution A G intron_variant LICA-FR 17 9497584 9497584 single base substitution C T 3_prime_UTR_variant LICA-FR 17 9497584 9497584 single base substitution C T exon_variant LICA-FR 17 9497584 9497584 single base substitution C T intron_variant LICA-FR 17 9497584 9497584 single base substitution C T missense_variant A161V 482C>T LICA-FR 17 9497584 9497584 single base substitution C T missense_variant A171V 512C>T LICA-FR 17 9497584 9497584 single base substitution C T missense_variant A93V 278C>T LICA-FR 17 9503398 9503398 single base substitution T C 3_prime_UTR_variant LICA-FR 17 9503398 9503398 single base substitution T C downstream_gene_variant LICA-FR 17 9503398 9503398 single base substitution T C synonymous_variant D149D 447T>C LICA-FR 17 9503398 9503398 single base substitution T C synonymous_variant D217D 651T>C LICA-FR 17 9503398 9503398 single base substitution T C synonymous_variant D227D 681T>C LICA-FR 17 9503652 9503652 single base substitution A T downstream_gene_variant LICA-FR 17 9503652 9503652 single base substitution A T intron_variant LICA-FR 17 9518006 9518006 single base substitution C T downstream_gene_variant LICA-FR 17 9518006 9518006 single base substitution C T intron_variant LICA-FR 17 9525869 9525869 single base substitution A G intron_variant LICA-FR 17 9532717 9532717 single base substitution T C intron_variant LICA-FR 17 9532717 9532717 single base substitution T C upstream_gene_variant LICA-FR 17 9534308 9534308 insertion of <=200bp - AAAG intron_variant LICA-FR 17 9534308 9534308 insertion of <=200bp - AAAG upstream_gene_variant LICA-FR 17 9543542 9543542 deletion of <=200bp T - downstream_gene_variant LICA-FR 17 9543542 9543542 deletion of <=200bp T - intron_variant LINC-JP 17 9489920 9489920 single base substitution T G intron_variant LINC-JP 17 9494311 9494311 single base substitution G T intron_variant LINC-JP 17 9501380 9501380 single base substitution A T downstream_gene_variant LINC-JP 17 9501380 9501380 single base substitution A T intron_variant LINC-JP 17 9501684 9501684 single base substitution G T downstream_gene_variant LINC-JP 17 9501684 9501684 single base substitution G T exon_variant LINC-JP 17 9501684 9501684 single base substitution G T intron_variant LINC-JP 17 9501782 9501782 single base substitution G A downstream_gene_variant LINC-JP 17 9501782 9501782 single base substitution G A exon_variant LINC-JP 17 9501782 9501782 single base substitution G A intron_variant LINC-JP 17 9501880 9501880 single base substitution A G downstream_gene_variant LINC-JP 17 9501880 9501880 single base substitution A G exon_variant LINC-JP 17 9501880 9501880 single base substitution A G intron_variant LINC-JP 17 9502088 9502088 single base substitution G A downstream_gene_variant LINC-JP 17 9502088 9502088 single base substitution G A intron_variant LINC-JP 17 9505472 9505472 single base substitution G A downstream_gene_variant LINC-JP 17 9505472 9505472 single base substitution G A intron_variant LINC-JP 17 9540368 9540368 single base substitution G T intron_variant LINC-JP 17 9541647 9541647 single base substitution C T intron_variant LIRI-JP 17 9477104 9477104 single base substitution A G upstream_gene_variant LIRI-JP 17 9479680 9479680 single base substitution T C upstream_gene_variant LIRI-JP 17 9481348 9481348 single base substitution G A intron_variant LIRI-JP 17 9482666 9482666 single base substitution G A intron_variant LIRI-JP 17 9482666 9482666 single base substitution G A upstream_gene_variant LIRI-JP 17 9482733 9482733 single base substitution G A intron_variant LIRI-JP 17 9482733 9482733 single base substitution G A upstream_gene_variant LIRI-JP 17 9484551 9484551 single base substitution G A intron_variant LIRI-JP 17 9484551 9484551 single base substitution G A upstream_gene_variant LIRI-JP 17 9485705 9485705 single base substitution C T intron_variant LIRI-JP 17 9485705 9485705 single base substitution C T upstream_gene_variant LIRI-JP 17 9486623 9486623 single base substitution A G intron_variant LIRI-JP 17 9486623 9486623 single base substitution A G upstream_gene_variant LIRI-JP 17 9488509 9488509 single base substitution C G intron_variant LIRI-JP 17 9488509 9488509 single base substitution C G upstream_gene_variant LIRI-JP 17 9489476 9489476 single base substitution A G intron_variant LIRI-JP 17 9491686 9491686 single base substitution C T intron_variant LIRI-JP 17 9492521 9492521 single base substitution A G intron_variant LIRI-JP 17 9492922 9492922 single base substitution C T intron_variant LIRI-JP 17 9493184 9493184 single base substitution A G intron_variant LIRI-JP 17 9497625 9497625 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 9497625 9497625 single base substitution A G exon_variant LIRI-JP 17 9497625 9497625 single base substitution A G intron_variant LIRI-JP 17 9497625 9497625 single base substitution A G missense_variant M107V 319A>G LIRI-JP 17 9497625 9497625 single base substitution A G missense_variant M175V 523A>G LIRI-JP 17 9497625 9497625 single base substitution A G missense_variant M185V 553A>G LIRI-JP 17 9500429 9500429 single base substitution C A downstream_gene_variant LIRI-JP 17 9500429 9500429 single base substitution C A intron_variant LIRI-JP 17 9501866 9501866 single base substitution G A downstream_gene_variant LIRI-JP 17 9501866 9501866 single base substitution G A exon_variant LIRI-JP 17 9501866 9501866 single base substitution G A intron_variant LIRI-JP 17 9502990 9502990 single base substitution A G downstream_gene_variant LIRI-JP 17 9502990 9502990 single base substitution A G intron_variant LIRI-JP 17 9505553 9505553 single base substitution C T downstream_gene_variant LIRI-JP 17 9505553 9505553 single base substitution C T intron_variant LIRI-JP 17 9506253 9506253 single base substitution A G downstream_gene_variant LIRI-JP 17 9506253 9506253 single base substitution A G intron_variant LIRI-JP 17 9510053 9510053 single base substitution C T intron_variant LIRI-JP 17 9510681 9510681 single base substitution A T intron_variant LIRI-JP 17 9511007 9511007 single base substitution T C intron_variant LIRI-JP 17 9511734 9511734 single base substitution A G intron_variant LIRI-JP 17 9512573 9512573 single base substitution T C intron_variant LIRI-JP 17 9512918 9512918 single base substitution C T intron_variant LIRI-JP 17 9514141 9514141 single base substitution C A intron_variant LIRI-JP 17 9516921 9516921 single base substitution G A downstream_gene_variant LIRI-JP 17 9516921 9516921 single base substitution G A intron_variant LIRI-JP 17 9517036 9517036 single base substitution T C downstream_gene_variant LIRI-JP 17 9517036 9517036 single base substitution T C intron_variant LIRI-JP 17 9517340 9517340 single base substitution A G downstream_gene_variant LIRI-JP 17 9517340 9517340 single base substitution A G intron_variant LIRI-JP 17 9518363 9518363 single base substitution G A downstream_gene_variant LIRI-JP 17 9518363 9518363 single base substitution G A intron_variant LIRI-JP 17 9525834 9525834 single base substitution G T intron_variant LIRI-JP 17 9527793 9527793 single base substitution T C intron_variant LIRI-JP 17 9527837 9527837 single base substitution A G intron_variant LIRI-JP 17 9532246 9532246 single base substitution C T intron_variant LIRI-JP 17 9532246 9532246 single base substitution C T upstream_gene_variant LIRI-JP 17 9538974 9538974 single base substitution C T intron_variant LIRI-JP 17 9540025 9540025 single base substitution C G intron_variant LIRI-JP 17 9541204 9541204 deletion of <=200bp T - intron_variant LIRI-JP 17 9542043 9542043 single base substitution T G intron_variant LIRI-JP 17 9544960 9544960 single base substitution G T downstream_gene_variant LIRI-JP 17 9544960 9544960 single base substitution G T intron_variant LIRI-JP 17 9546020 9546020 single base substitution C T downstream_gene_variant LIRI-JP 17 9546020 9546020 single base substitution C T intron_variant LIRI-JP 17 9546211 9546211 single base substitution T A downstream_gene_variant LIRI-JP 17 9546211 9546211 single base substitution T A intron_variant LIRI-JP 17 9549571 9549571 single base substitution G A downstream_gene_variant LIRI-JP 17 9550023 9550023 single base substitution A G downstream_gene_variant LIRI-JP 17 9550595 9550595 single base substitution C T downstream_gene_variant LIRI-JP 17 9551576 9551576 single base substitution T A downstream_gene_variant LUSC-KR 17 9475242 9475242 single base substitution A C upstream_gene_variant LUSC-KR 17 9475601 9475601 single base substitution G C upstream_gene_variant LUSC-KR 17 9477211 9477211 single base substitution A G upstream_gene_variant LUSC-KR 17 9479609 9479609 single base substitution C A upstream_gene_variant LUSC-KR 17 9481577 9481577 single base substitution C T intron_variant LUSC-KR 17 9482774 9482774 single base substitution C G intron_variant LUSC-KR 17 9482774 9482774 single base substitution C G upstream_gene_variant LUSC-KR 17 9483573 9483573 single base substitution G A intron_variant LUSC-KR 17 9483573 9483573 single base substitution G A upstream_gene_variant LUSC-KR 17 9485724 9485724 single base substitution G A intron_variant LUSC-KR 17 9485724 9485724 single base substitution G A upstream_gene_variant LUSC-KR 17 9489920 9489920 single base substitution T G intron_variant LUSC-KR 17 9491766 9491766 single base substitution C A intron_variant LUSC-KR 17 9492183 9492183 single base substitution G T intron_variant LUSC-KR 17 9493701 9493701 single base substitution G T intron_variant LUSC-KR 17 9493702 9493702 single base substitution G T intron_variant LUSC-KR 17 9494036 9494036 single base substitution G T intron_variant LUSC-KR 17 9506727 9506727 single base substitution C A downstream_gene_variant LUSC-KR 17 9506727 9506727 single base substitution C A intron_variant LUSC-KR 17 9515776 9515776 single base substitution C G 3_prime_UTR_variant LUSC-KR 17 9515776 9515776 single base substitution C G downstream_gene_variant LUSC-KR 17 9515776 9515776 single base substitution C G synonymous_variant V267V 801C>G LUSC-KR 17 9515776 9515776 single base substitution C G synonymous_variant V335V 1005C>G LUSC-KR 17 9515776 9515776 single base substitution C G synonymous_variant V345V 1035C>G LUSC-KR 17 9522387 9522387 single base substitution T C intron_variant LUSC-KR 17 9524491 9524491 single base substitution C T intron_variant LUSC-KR 17 9524885 9524885 single base substitution G T intron_variant LUSC-KR 17 9527825 9527825 single base substitution T C intron_variant LUSC-KR 17 9532077 9532077 single base substitution G T 3_prime_UTR_variant LUSC-KR 17 9532077 9532077 single base substitution G T missense_variant V304L 910G>T LUSC-KR 17 9532077 9532077 single base substitution G T missense_variant V372L 1114G>T LUSC-KR 17 9532077 9532077 single base substitution G T missense_variant V382L 1144G>T LUSC-KR 17 9532077 9532077 single base substitution G T upstream_gene_variant LUSC-KR 17 9534373 9534373 single base substitution A G intron_variant LUSC-KR 17 9534373 9534373 single base substitution A G upstream_gene_variant LUSC-KR 17 9535420 9535420 single base substitution G C intron_variant LUSC-KR 17 9535420 9535420 single base substitution G C upstream_gene_variant LUSC-KR 17 9535557 9535557 single base substitution G A intron_variant LUSC-KR 17 9535557 9535557 single base substitution G A upstream_gene_variant LUSC-KR 17 9536005 9536005 single base substitution T C intron_variant LUSC-KR 17 9536005 9536005 single base substitution T C upstream_gene_variant LUSC-KR 17 9538649 9538649 single base substitution G T intron_variant LUSC-KR 17 9538649 9538649 single base substitution G T upstream_gene_variant LUSC-KR 17 9541201 9541201 single base substitution C G intron_variant LUSC-KR 17 9542442 9542442 single base substitution A T exon_variant LUSC-KR 17 9542442 9542442 single base substitution A T intron_variant LUSC-KR 17 9542813 9542813 single base substitution C A downstream_gene_variant LUSC-KR 17 9542813 9542813 single base substitution C A intron_variant LUSC-KR 17 9547884 9547884 single base substitution A G downstream_gene_variant LUSC-US 17 9480081 9480081 single base substitution T G missense_variant N23K 69T>G LUSC-US 17 9480081 9480081 single base substitution T G splice_region_variant LUSC-US 17 9490041 9490041 single base substitution G A 3_prime_UTR_variant LUSC-US 17 9490041 9490041 single base substitution G A exon_variant LUSC-US 17 9490041 9490041 single base substitution G A intron_variant LUSC-US 17 9490041 9490041 single base substitution G A missense_variant R98K 293G>A LUSC-US 17 9490041 9490041 single base substitution G A synonymous_variant K109K 327G>A LUSC-US 17 9490041 9490041 single base substitution G A synonymous_variant K31K 93G>A LUSC-US 17 9490041 9490041 single base substitution G A synonymous_variant K99K 297G>A LUSC-US 17 9538775 9538775 single base substitution G A 3_prime_UTR_variant LUSC-US 17 9538775 9538775 single base substitution G A exon_variant LUSC-US 17 9538775 9538775 single base substitution G A synonymous_variant K390K 1170G>A LUSC-US 17 9538775 9538775 single base substitution G A synonymous_variant K458K 1374G>A LUSC-US 17 9538775 9538775 single base substitution G A synonymous_variant K468K 1404G>A LUSC-US 17 9538775 9538775 single base substitution G A synonymous_variant K9K 27G>A MALY-DE 17 9484526 9484526 single base substitution C T intron_variant MALY-DE 17 9484526 9484526 single base substitution C T upstream_gene_variant MALY-DE 17 9487708 9487708 single base substitution A C intron_variant MALY-DE 17 9487708 9487708 single base substitution A C upstream_gene_variant MALY-DE 17 9490874 9490874 single base substitution T C intron_variant MALY-DE 17 9491541 9491541 single base substitution G T intron_variant MALY-DE 17 9491874 9491874 single base substitution T C intron_variant MALY-DE 17 9500696 9500696 single base substitution C T downstream_gene_variant MALY-DE 17 9500696 9500696 single base substitution C T intron_variant MALY-DE 17 9531656 9531656 single base substitution G A intron_variant MALY-DE 17 9531656 9531656 single base substitution G A upstream_gene_variant MALY-DE 17 9531689 9531689 single base substitution C T intron_variant MALY-DE 17 9531689 9531689 single base substitution C T upstream_gene_variant MALY-DE 17 9531885 9531885 single base substitution C T intron_variant MALY-DE 17 9531885 9531885 single base substitution C T upstream_gene_variant MALY-DE 17 9534027 9534027 single base substitution G A intron_variant MALY-DE 17 9534027 9534027 single base substitution G A upstream_gene_variant MALY-DE 17 9538948 9538948 single base substitution A G intron_variant MALY-DE 17 9549247 9549247 single base substitution G A downstream_gene_variant MELA-AU 17 9476317 9476317 single base substitution G A upstream_gene_variant MELA-AU 17 9476318 9476318 single base substitution G A upstream_gene_variant MELA-AU 17 9477006 9477006 single base substitution G T upstream_gene_variant MELA-AU 17 9477446 9477446 single base substitution G A upstream_gene_variant MELA-AU 17 9477679 9477679 single base substitution T A upstream_gene_variant MELA-AU 17 9478070 9478070 single base substitution C T upstream_gene_variant MELA-AU 17 9478674 9478674 single base substitution G A upstream_gene_variant MELA-AU 17 9479066 9479066 single base substitution C T upstream_gene_variant MELA-AU 17 9479154 9479154 single base substitution C T upstream_gene_variant MELA-AU 17 9480669 9480669 single base substitution G A intron_variant MELA-AU 17 9481001 9481001 single base substitution C T intron_variant MELA-AU 17 9481036 9481036 single base substitution C T intron_variant MELA-AU 17 9481130 9481130 single base substitution C T intron_variant MELA-AU 17 9481188 9481188 single base substitution C T intron_variant MELA-AU 17 9481651 9481651 single base substitution C T intron_variant MELA-AU 17 9481662 9481662 single base substitution C T intron_variant MELA-AU 17 9481663 9481663 single base substitution C T intron_variant MELA-AU 17 9482235 9482235 single base substitution C T intron_variant MELA-AU 17 9482349 9482349 single base substitution T C intron_variant MELA-AU 17 9482695 9482695 single base substitution A G intron_variant MELA-AU 17 9482695 9482695 single base substitution A G upstream_gene_variant MELA-AU 17 9482917 9482917 single base substitution C T intron_variant MELA-AU 17 9482917 9482917 single base substitution C T upstream_gene_variant MELA-AU 17 9482948 9482948 single base substitution G A intron_variant MELA-AU 17 9482948 9482948 single base substitution G A upstream_gene_variant MELA-AU 17 9482987 9482987 single base substitution T G intron_variant MELA-AU 17 9482987 9482987 single base substitution T G upstream_gene_variant MELA-AU 17 9483370 9483370 single base substitution A C intron_variant MELA-AU 17 9483370 9483370 single base substitution A C upstream_gene_variant MELA-AU 17 9483908 9483908 single base substitution A C intron_variant MELA-AU 17 9483908 9483908 single base substitution A C upstream_gene_variant MELA-AU 17 9483929 9483929 single base substitution C T intron_variant MELA-AU 17 9483929 9483929 single base substitution C T upstream_gene_variant MELA-AU 17 9484381 9484381 single base substitution C T intron_variant MELA-AU 17 9484381 9484381 single base substitution C T upstream_gene_variant MELA-AU 17 9484450 9484450 single base substitution G A intron_variant MELA-AU 17 9484450 9484450 single base substitution G A upstream_gene_variant MELA-AU 17 9484542 9484542 single base substitution G A intron_variant MELA-AU 17 9484542 9484542 single base substitution G A upstream_gene_variant MELA-AU 17 9484895 9484895 single base substitution G A intron_variant MELA-AU 17 9484895 9484895 single base substitution G A upstream_gene_variant MELA-AU 17 9485394 9485394 single base substitution G A intron_variant MELA-AU 17 9485394 9485394 single base substitution G A upstream_gene_variant MELA-AU 17 9486044 9486044 single base substitution C T intron_variant MELA-AU 17 9486044 9486044 single base substitution C T upstream_gene_variant MELA-AU 17 9486118 9486118 single base substitution T G intron_variant MELA-AU 17 9486118 9486118 single base substitution T G upstream_gene_variant MELA-AU 17 9486236 9486236 single base substitution G A intron_variant MELA-AU 17 9486236 9486236 single base substitution G A upstream_gene_variant MELA-AU 17 9486545 9486545 single base substitution C T intron_variant MELA-AU 17 9486545 9486545 single base substitution C T upstream_gene_variant MELA-AU 17 9486595 9486595 single base substitution G A intron_variant MELA-AU 17 9486595 9486595 single base substitution G A upstream_gene_variant MELA-AU 17 9486648 9486648 single base substitution C T intron_variant MELA-AU 17 9486648 9486648 single base substitution C T upstream_gene_variant MELA-AU 17 9486943 9486943 single base substitution C T intron_variant MELA-AU 17 9486943 9486943 single base substitution C T upstream_gene_variant MELA-AU 17 9487094 9487094 single base substitution G A intron_variant MELA-AU 17 9487094 9487094 single base substitution G A upstream_gene_variant MELA-AU 17 9487191 9487191 single base substitution C T intron_variant MELA-AU 17 9487191 9487191 single base substitution C T upstream_gene_variant MELA-AU 17 9487455 9487455 single base substitution C T intron_variant MELA-AU 17 9487455 9487455 single base substitution C T upstream_gene_variant MELA-AU 17 9487726 9487726 single base substitution T C intron_variant MELA-AU 17 9487726 9487726 single base substitution T C upstream_gene_variant MELA-AU 17 9487733 9487733 single base substitution C T intron_variant MELA-AU 17 9487733 9487733 single base substitution C T upstream_gene_variant MELA-AU 17 9489238 9489238 single base substitution C T 3_prime_UTR_variant MELA-AU 17 9489238 9489238 single base substitution C T exon_variant MELA-AU 17 9489238 9489238 single base substitution C T intron_variant MELA-AU 17 9489238 9489238 single base substitution C T synonymous_variant S73S 219C>T MELA-AU 17 9489238 9489238 single base substitution C T synonymous_variant S83S 249C>T MELA-AU 17 9489301 9489301 single base substitution G A intron_variant MELA-AU 17 9489523 9489523 single base substitution C T intron_variant MELA-AU 17 9489539 9489539 single base substitution C T intron_variant MELA-AU 17 9489629 9489629 single base substitution C T intron_variant MELA-AU 17 9489772 9489772 single base substitution C T intron_variant MELA-AU 17 9489824 9489824 single base substitution T G intron_variant MELA-AU 17 9490328 9490328 single base substitution C T intron_variant MELA-AU 17 9490337 9490338 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 9490470 9490470 single base substitution G A intron_variant MELA-AU 17 9491022 9491022 deletion of <=200bp A - intron_variant MELA-AU 17 9491318 9491318 single base substitution G A intron_variant MELA-AU 17 9491441 9491441 single base substitution G A intron_variant MELA-AU 17 9491492 9491492 single base substitution C T intron_variant MELA-AU 17 9491493 9491493 single base substitution C T intron_variant MELA-AU 17 9491658 9491658 single base substitution G A intron_variant MELA-AU 17 9491691 9491691 single base substitution C T intron_variant MELA-AU 17 9491828 9491828 single base substitution G A intron_variant MELA-AU 17 9491966 9491966 single base substitution G T intron_variant MELA-AU 17 9492301 9492301 single base substitution C T intron_variant MELA-AU 17 9492607 9492607 single base substitution G A intron_variant MELA-AU 17 9492792 9492792 single base substitution G A intron_variant MELA-AU 17 9492853 9492853 single base substitution C T intron_variant MELA-AU 17 9493027 9493027 single base substitution G A intron_variant MELA-AU 17 9493096 9493096 single base substitution C T intron_variant MELA-AU 17 9493210 9493210 single base substitution G A intron_variant MELA-AU 17 9493304 9493304 single base substitution C T intron_variant MELA-AU 17 9493471 9493471 single base substitution C T intron_variant MELA-AU 17 9493620 9493620 single base substitution C T intron_variant MELA-AU 17 9493774 9493774 single base substitution C T intron_variant MELA-AU 17 9493806 9493806 single base substitution G A intron_variant MELA-AU 17 9493843 9493843 single base substitution C T intron_variant MELA-AU 17 9493922 9493923 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 9493959 9493959 single base substitution A G intron_variant MELA-AU 17 9493973 9493973 single base substitution C T intron_variant MELA-AU 17 9494005 9494005 single base substitution G A intron_variant MELA-AU 17 9494163 9494163 single base substitution C T intron_variant MELA-AU 17 9494207 9494207 single base substitution G A intron_variant MELA-AU 17 9494234 9494234 single base substitution C T intron_variant MELA-AU 17 9494304 9494304 single base substitution G A intron_variant MELA-AU 17 9494414 9494414 single base substitution G A intron_variant MELA-AU 17 9494490 9494490 single base substitution G A intron_variant MELA-AU 17 9494603 9494603 single base substitution C T intron_variant MELA-AU 17 9494699 9494699 single base substitution C T intron_variant MELA-AU 17 9495149 9495149 single base substitution C T intron_variant MELA-AU 17 9495231 9495231 single base substitution C T intron_variant MELA-AU 17 9495814 9495814 single base substitution C T intron_variant MELA-AU 17 9496104 9496104 single base substitution C T intron_variant MELA-AU 17 9496250 9496250 single base substitution T C intron_variant MELA-AU 17 9496356 9496356 single base substitution C A intron_variant MELA-AU 17 9496500 9496500 single base substitution C T intron_variant MELA-AU 17 9496952 9496952 single base substitution C T intron_variant MELA-AU 17 9496971 9496971 single base substitution C T intron_variant MELA-AU 17 9497397 9497397 single base substitution T A intron_variant MELA-AU 17 9497575 9497575 single base substitution T C 3_prime_UTR_variant MELA-AU 17 9497575 9497575 single base substitution T C exon_variant MELA-AU 17 9497575 9497575 single base substitution T C intron_variant MELA-AU 17 9497575 9497575 single base substitution T C missense_variant V158A 473T>C MELA-AU 17 9497575 9497575 single base substitution T C missense_variant V168A 503T>C MELA-AU 17 9497575 9497575 single base substitution T C missense_variant V90A 269T>C MELA-AU 17 9497662 9497662 single base substitution T C 3_prime_UTR_variant MELA-AU 17 9497662 9497662 single base substitution T C intron_variant MELA-AU 17 9498091 9498091 single base substitution C T downstream_gene_variant MELA-AU 17 9498091 9498091 single base substitution C T intron_variant MELA-AU 17 9498417 9498417 single base substitution G A downstream_gene_variant MELA-AU 17 9498417 9498417 single base substitution G A intron_variant MELA-AU 17 9498617 9498617 single base substitution C T downstream_gene_variant MELA-AU 17 9498617 9498617 single base substitution C T intron_variant MELA-AU 17 9498663 9498663 single base substitution C T downstream_gene_variant MELA-AU 17 9498663 9498663 single base substitution C T intron_variant MELA-AU 17 9498720 9498720 single base substitution G A downstream_gene_variant MELA-AU 17 9498720 9498720 single base substitution G A intron_variant MELA-AU 17 9498757 9498757 single base substitution G A downstream_gene_variant MELA-AU 17 9498757 9498757 single base substitution G A intron_variant MELA-AU 17 9498772 9498772 single base substitution C T downstream_gene_variant MELA-AU 17 9498772 9498772 single base substitution C T intron_variant MELA-AU 17 9499165 9499165 single base substitution C T downstream_gene_variant MELA-AU 17 9499165 9499165 single base substitution C T intron_variant MELA-AU 17 9499920 9499920 single base substitution C T downstream_gene_variant MELA-AU 17 9499920 9499920 single base substitution C T intron_variant MELA-AU 17 9500096 9500096 single base substitution G A downstream_gene_variant MELA-AU 17 9500096 9500096 single base substitution G A intron_variant MELA-AU 17 9500233 9500233 single base substitution C T downstream_gene_variant MELA-AU 17 9500233 9500233 single base substitution C T intron_variant MELA-AU 17 9500552 9500552 single base substitution G A downstream_gene_variant MELA-AU 17 9500552 9500552 single base substitution G A intron_variant MELA-AU 17 9500561 9500561 single base substitution C T downstream_gene_variant MELA-AU 17 9500561 9500561 single base substitution C T intron_variant MELA-AU 17 9500628 9500628 single base substitution C T downstream_gene_variant MELA-AU 17 9500628 9500628 single base substitution C T intron_variant MELA-AU 17 9500914 9500914 single base substitution G A 3_prime_UTR_variant MELA-AU 17 9500914 9500914 single base substitution G A downstream_gene_variant MELA-AU 17 9500914 9500914 single base substitution G A intron_variant MELA-AU 17 9500920 9500920 single base substitution G A 3_prime_UTR_variant MELA-AU 17 9500920 9500920 single base substitution G A downstream_gene_variant MELA-AU 17 9500920 9500920 single base substitution G A intron_variant MELA-AU 17 9501124 9501124 single base substitution G A downstream_gene_variant MELA-AU 17 9501124 9501124 single base substitution G A intron_variant MELA-AU 17 9501199 9501199 single base substitution G A downstream_gene_variant MELA-AU 17 9501199 9501199 single base substitution G A intron_variant MELA-AU 17 9501247 9501247 single base substitution C T downstream_gene_variant MELA-AU 17 9501247 9501247 single base substitution C T intron_variant MELA-AU 17 9501367 9501367 single base substitution G A downstream_gene_variant MELA-AU 17 9501367 9501367 single base substitution G A intron_variant MELA-AU 17 9501368 9501368 single base substitution G A downstream_gene_variant MELA-AU 17 9501368 9501368 single base substitution G A intron_variant MELA-AU 17 9501408 9501408 single base substitution C T downstream_gene_variant MELA-AU 17 9501408 9501408 single base substitution C T intron_variant MELA-AU 17 9501445 9501445 single base substitution G A downstream_gene_variant MELA-AU 17 9501445 9501445 single base substitution G A intron_variant MELA-AU 17 9501748 9501748 single base substitution G A downstream_gene_variant MELA-AU 17 9501748 9501748 single base substitution G A exon_variant MELA-AU 17 9501748 9501748 single base substitution G A intron_variant MELA-AU 17 9501771 9501771 single base substitution G A downstream_gene_variant MELA-AU 17 9501771 9501771 single base substitution G A exon_variant MELA-AU 17 9501771 9501771 single base substitution G A intron_variant MELA-AU 17 9502546 9502546 single base substitution G A downstream_gene_variant MELA-AU 17 9502546 9502546 single base substitution G A intron_variant MELA-AU 17 9502574 9502574 single base substitution C T downstream_gene_variant MELA-AU 17 9502574 9502574 single base substitution C T intron_variant MELA-AU 17 9502651 9502651 single base substitution G A downstream_gene_variant MELA-AU 17 9502651 9502651 single base substitution G A intron_variant MELA-AU 17 9502680 9502680 single base substitution A T downstream_gene_variant MELA-AU 17 9502680 9502680 single base substitution A T intron_variant MELA-AU 17 9502687 9502687 single base substitution G A downstream_gene_variant MELA-AU 17 9502687 9502687 single base substitution G A intron_variant MELA-AU 17 9502698 9502698 single base substitution T C downstream_gene_variant MELA-AU 17 9502698 9502698 single base substitution T C intron_variant MELA-AU 17 9502755 9502755 single base substitution C A downstream_gene_variant MELA-AU 17 9502755 9502755 single base substitution C A intron_variant MELA-AU 17 9502937 9502937 single base substitution G A downstream_gene_variant MELA-AU 17 9502937 9502937 single base substitution G A intron_variant MELA-AU 17 9502987 9502987 single base substitution G A downstream_gene_variant MELA-AU 17 9502987 9502987 single base substitution G A intron_variant MELA-AU 17 9503063 9503063 single base substitution T A downstream_gene_variant MELA-AU 17 9503063 9503063 single base substitution T A intron_variant MELA-AU 17 9503168 9503168 single base substitution C T downstream_gene_variant MELA-AU 17 9503168 9503168 single base substitution C T intron_variant MELA-AU 17 9503275 9503275 single base substitution C T downstream_gene_variant MELA-AU 17 9503275 9503275 single base substitution C T intron_variant MELA-AU 17 9503427 9503427 single base substitution G A 3_prime_UTR_variant MELA-AU 17 9503427 9503427 single base substitution G A downstream_gene_variant MELA-AU 17 9503427 9503427 single base substitution G A missense_variant G159E 476G>A MELA-AU 17 9503427 9503427 single base substitution G A missense_variant G227E 680G>A MELA-AU 17 9503427 9503427 single base substitution G A missense_variant G237E 710G>A MELA-AU 17 9503570 9503570 single base substitution C T downstream_gene_variant MELA-AU 17 9503570 9503570 single base substitution C T intron_variant MELA-AU 17 9503872 9503872 single base substitution T G downstream_gene_variant MELA-AU 17 9503872 9503872 single base substitution T G intron_variant MELA-AU 17 9503980 9503980 single base substitution C T downstream_gene_variant MELA-AU 17 9503980 9503980 single base substitution C T intron_variant MELA-AU 17 9504180 9504180 single base substitution G A downstream_gene_variant MELA-AU 17 9504180 9504180 single base substitution G A intron_variant MELA-AU 17 9504408 9504408 single base substitution G A downstream_gene_variant MELA-AU 17 9504408 9504408 single base substitution G A intron_variant MELA-AU 17 9504554 9504554 single base substitution G A downstream_gene_variant MELA-AU 17 9504554 9504554 single base substitution G A intron_variant MELA-AU 17 9504819 9504819 single base substitution C T downstream_gene_variant MELA-AU 17 9504819 9504819 single base substitution C T intron_variant MELA-AU 17 9504841 9504841 single base substitution G A downstream_gene_variant MELA-AU 17 9504841 9504841 single base substitution G A intron_variant MELA-AU 17 9505039 9505039 single base substitution A T downstream_gene_variant MELA-AU 17 9505039 9505039 single base substitution A T intron_variant MELA-AU 17 9505105 9505105 single base substitution C G downstream_gene_variant MELA-AU 17 9505105 9505105 single base substitution C G intron_variant MELA-AU 17 9505207 9505207 single base substitution G T downstream_gene_variant MELA-AU 17 9505207 9505207 single base substitution G T intron_variant MELA-AU 17 9505362 9505362 single base substitution G A downstream_gene_variant MELA-AU 17 9505362 9505362 single base substitution G A intron_variant MELA-AU 17 9505732 9505732 single base substitution G A downstream_gene_variant MELA-AU 17 9505732 9505732 single base substitution G A intron_variant MELA-AU 17 9505838 9505838 single base substitution T C downstream_gene_variant MELA-AU 17 9505838 9505838 single base substitution T C intron_variant MELA-AU 17 9505841 9505841 single base substitution C T downstream_gene_variant MELA-AU 17 9505841 9505841 single base substitution C T intron_variant MELA-AU 17 9505995 9505995 single base substitution G A downstream_gene_variant MELA-AU 17 9505995 9505995 single base substitution G A intron_variant MELA-AU 17 9506042 9506042 single base substitution C T downstream_gene_variant MELA-AU 17 9506042 9506042 single base substitution C T intron_variant MELA-AU 17 9506343 9506343 single base substitution C T downstream_gene_variant MELA-AU 17 9506343 9506343 single base substitution C T intron_variant MELA-AU 17 9506421 9506421 single base substitution C T downstream_gene_variant MELA-AU 17 9506421 9506421 single base substitution C T intron_variant MELA-AU 17 9506455 9506455 single base substitution G A downstream_gene_variant MELA-AU 17 9506455 9506455 single base substitution G A intron_variant MELA-AU 17 9506641 9506641 single base substitution T A downstream_gene_variant MELA-AU 17 9506641 9506641 single base substitution T A intron_variant MELA-AU 17 9506757 9506757 single base substitution A G downstream_gene_variant MELA-AU 17 9506757 9506757 single base substitution A G intron_variant MELA-AU 17 9506761 9506761 single base substitution C T downstream_gene_variant MELA-AU 17 9506761 9506761 single base substitution C T intron_variant MELA-AU 17 9507280 9507280 single base substitution G A downstream_gene_variant MELA-AU 17 9507280 9507280 single base substitution G A intron_variant MELA-AU 17 9507353 9507353 single base substitution G A downstream_gene_variant MELA-AU 17 9507353 9507353 single base substitution G A intron_variant MELA-AU 17 9507370 9507370 single base substitution A T downstream_gene_variant MELA-AU 17 9507370 9507370 single base substitution A T intron_variant MELA-AU 17 9507778 9507778 single base substitution C T downstream_gene_variant MELA-AU 17 9507778 9507778 single base substitution C T intron_variant MELA-AU 17 9507855 9507855 single base substitution C T downstream_gene_variant MELA-AU 17 9507855 9507855 single base substitution C T intron_variant MELA-AU 17 9508066 9508066 single base substitution C T downstream_gene_variant MELA-AU 17 9508066 9508066 single base substitution C T intron_variant MELA-AU 17 9508068 9508075 deletion of <=200bp AAATAAAT - downstream_gene_variant MELA-AU 17 9508068 9508075 deletion of <=200bp AAATAAAT - intron_variant MELA-AU 17 9508177 9508177 single base substitution C T downstream_gene_variant MELA-AU 17 9508177 9508177 single base substitution C T intron_variant MELA-AU 17 9508554 9508554 single base substitution C T intron_variant MELA-AU 17 9508630 9508630 single base substitution G A intron_variant MELA-AU 17 9509095 9509095 single base substitution G A intron_variant MELA-AU 17 9509389 9509389 single base substitution A T intron_variant MELA-AU 17 9509491 9509491 single base substitution G A intron_variant MELA-AU 17 9509526 9509526 single base substitution C T intron_variant MELA-AU 17 9509607 9509607 single base substitution G A intron_variant MELA-AU 17 9509632 9509632 single base substitution C T intron_variant MELA-AU 17 9509689 9509689 single base substitution C T intron_variant MELA-AU 17 9510411 9510411 single base substitution C T intron_variant MELA-AU 17 9510526 9510526 single base substitution G A intron_variant MELA-AU 17 9510592 9510592 single base substitution G A intron_variant MELA-AU 17 9510592 9510592 single base substitution G C intron_variant MELA-AU 17 9511029 9511029 single base substitution T G intron_variant MELA-AU 17 9511207 9511207 single base substitution G A intron_variant MELA-AU 17 9511365 9511365 single base substitution A T intron_variant MELA-AU 17 9511428 9511428 single base substitution C T splice_region_variant MELA-AU 17 9511550 9511550 single base substitution C T intron_variant MELA-AU 17 9512216 9512216 single base substitution G A intron_variant MELA-AU 17 9512375 9512375 single base substitution G A intron_variant MELA-AU 17 9512527 9512527 single base substitution G A intron_variant MELA-AU 17 9512702 9512702 single base substitution G A intron_variant MELA-AU 17 9512888 9512888 single base substitution C T intron_variant MELA-AU 17 9512979 9512979 single base substitution C T intron_variant MELA-AU 17 9513166 9513166 single base substitution T C intron_variant MELA-AU 17 9513393 9513393 single base substitution C T intron_variant MELA-AU 17 9513625 9513625 single base substitution T A 3_prime_UTR_variant MELA-AU 17 9513625 9513625 single base substitution T A intron_variant MELA-AU 17 9514174 9514174 single base substitution C T intron_variant MELA-AU 17 9514539 9514539 single base substitution C T intron_variant MELA-AU 17 9514683 9514683 single base substitution T G intron_variant MELA-AU 17 9514907 9514907 single base substitution C T intron_variant MELA-AU 17 9514993 9514993 single base substitution T A intron_variant MELA-AU 17 9515064 9515064 single base substitution G A intron_variant MELA-AU 17 9515072 9515072 single base substitution C T intron_variant MELA-AU 17 9515292 9515292 single base substitution A T intron_variant MELA-AU 17 9515303 9515303 single base substitution G A intron_variant MELA-AU 17 9515626 9515626 single base substitution G A splice_region_variant MELA-AU 17 9515792 9515792 single base substitution C T 3_prime_UTR_variant MELA-AU 17 9515792 9515792 single base substitution C T downstream_gene_variant MELA-AU 17 9515792 9515792 single base substitution C T missense_variant P273S 817C>T MELA-AU 17 9515792 9515792 single base substitution C T missense_variant P341S 1021C>T MELA-AU 17 9515792 9515792 single base substitution C T missense_variant P351S 1051C>T MELA-AU 17 9515885 9515885 single base substitution A G downstream_gene_variant MELA-AU 17 9515885 9515885 single base substitution A G intron_variant MELA-AU 17 9516116 9516116 single base substitution G A downstream_gene_variant MELA-AU 17 9516116 9516116 single base substitution G A intron_variant MELA-AU 17 9516203 9516203 single base substitution C T downstream_gene_variant MELA-AU 17 9516203 9516203 single base substitution C T intron_variant MELA-AU 17 9516233 9516233 single base substitution G A downstream_gene_variant MELA-AU 17 9516233 9516233 single base substitution G A intron_variant MELA-AU 17 9516454 9516454 single base substitution C T downstream_gene_variant MELA-AU 17 9516454 9516454 single base substitution C T intron_variant MELA-AU 17 9516625 9516625 single base substitution G A downstream_gene_variant MELA-AU 17 9516625 9516625 single base substitution G A intron_variant MELA-AU 17 9516813 9516813 single base substitution G A downstream_gene_variant MELA-AU 17 9516813 9516813 single base substitution G A intron_variant MELA-AU 17 9516933 9516933 single base substitution C T downstream_gene_variant MELA-AU 17 9516933 9516933 single base substitution C T intron_variant MELA-AU 17 9517032 9517032 single base substitution C T downstream_gene_variant MELA-AU 17 9517032 9517032 single base substitution C T intron_variant MELA-AU 17 9517094 9517094 single base substitution C T downstream_gene_variant MELA-AU 17 9517094 9517094 single base substitution C T intron_variant MELA-AU 17 9517296 9517296 single base substitution C T downstream_gene_variant MELA-AU 17 9517296 9517296 single base substitution C T intron_variant MELA-AU 17 9517352 9517352 single base substitution C T downstream_gene_variant MELA-AU 17 9517352 9517352 single base substitution C T intron_variant MELA-AU 17 9517477 9517477 single base substitution T C downstream_gene_variant MELA-AU 17 9517477 9517477 single base substitution T C intron_variant MELA-AU 17 9517507 9517507 single base substitution T A downstream_gene_variant MELA-AU 17 9517507 9517507 single base substitution T A intron_variant MELA-AU 17 9517932 9517932 single base substitution C T downstream_gene_variant MELA-AU 17 9517932 9517932 single base substitution C T intron_variant MELA-AU 17 9518029 9518029 single base substitution A T downstream_gene_variant MELA-AU 17 9518029 9518029 single base substitution A T intron_variant MELA-AU 17 9518057 9518057 single base substitution G A downstream_gene_variant MELA-AU 17 9518057 9518057 single base substitution G A intron_variant MELA-AU 17 9518107 9518107 single base substitution C T downstream_gene_variant MELA-AU 17 9518107 9518107 single base substitution C T intron_variant MELA-AU 17 9518111 9518111 single base substitution C T downstream_gene_variant MELA-AU 17 9518111 9518111 single base substitution C T intron_variant MELA-AU 17 9518160 9518160 single base substitution C T downstream_gene_variant MELA-AU 17 9518160 9518160 single base substitution C T intron_variant MELA-AU 17 9518288 9518288 single base substitution G A downstream_gene_variant MELA-AU 17 9518288 9518288 single base substitution G A intron_variant MELA-AU 17 9518306 9518306 single base substitution C T downstream_gene_variant MELA-AU 17 9518306 9518306 single base substitution C T intron_variant MELA-AU 17 9518307 9518307 single base substitution C T downstream_gene_variant MELA-AU 17 9518307 9518307 single base substitution C T intron_variant MELA-AU 17 9518709 9518709 single base substitution C T downstream_gene_variant MELA-AU 17 9518709 9518709 single base substitution C T intron_variant MELA-AU 17 9518899 9518899 single base substitution C T downstream_gene_variant MELA-AU 17 9518899 9518899 single base substitution C T intron_variant MELA-AU 17 9518969 9518969 single base substitution C T downstream_gene_variant MELA-AU 17 9518969 9518969 single base substitution C T intron_variant MELA-AU 17 9519060 9519060 single base substitution G A downstream_gene_variant MELA-AU 17 9519060 9519060 single base substitution G A intron_variant MELA-AU 17 9519225 9519225 single base substitution G A downstream_gene_variant MELA-AU 17 9519225 9519225 single base substitution G A intron_variant MELA-AU 17 9519548 9519548 single base substitution G A downstream_gene_variant MELA-AU 17 9519548 9519548 single base substitution G A intron_variant MELA-AU 17 9525351 9525351 single base substitution C T intron_variant MELA-AU 17 9525433 9525433 single base substitution C T intron_variant MELA-AU 17 9525634 9525634 single base substitution G A intron_variant MELA-AU 17 9525720 9525720 single base substitution A T intron_variant MELA-AU 17 9525729 9525729 single base substitution G A intron_variant MELA-AU 17 9525985 9525985 single base substitution T C intron_variant MELA-AU 17 9526259 9526259 single base substitution C T intron_variant MELA-AU 17 9526393 9526393 single base substitution C T intron_variant MELA-AU 17 9526407 9526407 single base substitution C T intron_variant MELA-AU 17 9526596 9526596 single base substitution G A intron_variant MELA-AU 17 9526690 9526690 single base substitution C T intron_variant MELA-AU 17 9526970 9526970 single base substitution G A intron_variant MELA-AU 17 9527188 9527188 single base substitution C T intron_variant MELA-AU 17 9527201 9527201 single base substitution T G intron_variant MELA-AU 17 9527279 9527279 single base substitution C T intron_variant MELA-AU 17 9527407 9527407 single base substitution C T intron_variant MELA-AU 17 9527419 9527419 single base substitution C T intron_variant MELA-AU 17 9527526 9527526 single base substitution G A intron_variant MELA-AU 17 9527742 9527742 single base substitution C T intron_variant MELA-AU 17 9527798 9527798 single base substitution C T intron_variant MELA-AU 17 9527905 9527905 single base substitution G A intron_variant MELA-AU 17 9528034 9528034 single base substitution C T intron_variant MELA-AU 17 9528298 9528298 single base substitution C T intron_variant MELA-AU 17 9528462 9528462 single base substitution C T intron_variant MELA-AU 17 9528503 9528504 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 9528521 9528521 single base substitution A T intron_variant MELA-AU 17 9528542 9528542 single base substitution C T intron_variant MELA-AU 17 9528545 9528545 single base substitution C T intron_variant MELA-AU 17 9528585 9528585 single base substitution C T intron_variant MELA-AU 17 9528645 9528645 single base substitution T C intron_variant MELA-AU 17 9528678 9528678 single base substitution G A intron_variant MELA-AU 17 9528800 9528800 single base substitution G A intron_variant MELA-AU 17 9528838 9528838 single base substitution G A intron_variant MELA-AU 17 9528882 9528882 single base substitution C T intron_variant MELA-AU 17 9528984 9528984 single base substitution C T intron_variant MELA-AU 17 9529210 9529210 single base substitution C T intron_variant MELA-AU 17 9529244 9529244 single base substitution C T intron_variant MELA-AU 17 9529279 9529279 single base substitution C T intron_variant MELA-AU 17 9529379 9529379 single base substitution G A intron_variant MELA-AU 17 9529414 9529414 single base substitution C T intron_variant MELA-AU 17 9529547 9529547 single base substitution G A intron_variant MELA-AU 17 9529610 9529610 single base substitution G A intron_variant MELA-AU 17 9529637 9529637 single base substitution C T intron_variant MELA-AU 17 9529680 9529680 single base substitution G A intron_variant MELA-AU 17 9529724 9529724 single base substitution T A intron_variant MELA-AU 17 9529745 9529745 single base substitution C T intron_variant MELA-AU 17 9530467 9530467 single base substitution G A intron_variant MELA-AU 17 9530585 9530585 single base substitution G T intron_variant MELA-AU 17 9530609 9530609 single base substitution C T intron_variant MELA-AU 17 9530871 9530871 single base substitution G A intron_variant MELA-AU 17 9531031 9531031 single base substitution T C intron_variant MELA-AU 17 9531036 9531036 single base substitution C A intron_variant MELA-AU 17 9531308 9531308 single base substitution C T intron_variant MELA-AU 17 9531308 9531308 single base substitution C T upstream_gene_variant MELA-AU 17 9531324 9531324 single base substitution T C intron_variant MELA-AU 17 9531324 9531324 single base substitution T C upstream_gene_variant MELA-AU 17 9531374 9531384 deletion of <=200bp AGACAAATGTT - intron_variant MELA-AU 17 9531374 9531384 deletion of <=200bp AGACAAATGTT - upstream_gene_variant MELA-AU 17 9531645 9531645 single base substitution G A intron_variant MELA-AU 17 9531645 9531645 single base substitution G A upstream_gene_variant MELA-AU 17 9531830 9531830 single base substitution C T intron_variant MELA-AU 17 9531830 9531830 single base substitution C T upstream_gene_variant MELA-AU 17 9531855 9531855 single base substitution A T intron_variant MELA-AU 17 9531855 9531855 single base substitution A T upstream_gene_variant MELA-AU 17 9531898 9531898 single base substitution C T intron_variant MELA-AU 17 9531898 9531898 single base substitution C T upstream_gene_variant MELA-AU 17 9532419 9532419 single base substitution G A intron_variant MELA-AU 17 9532419 9532419 single base substitution G A upstream_gene_variant MELA-AU 17 9532491 9532491 single base substitution G A intron_variant MELA-AU 17 9532491 9532491 single base substitution G A upstream_gene_variant MELA-AU 17 9532963 9532963 single base substitution C T intron_variant MELA-AU 17 9532963 9532963 single base substitution C T upstream_gene_variant MELA-AU 17 9533164 9533164 single base substitution C T intron_variant MELA-AU 17 9533164 9533164 single base substitution C T upstream_gene_variant MELA-AU 17 9533214 9533214 single base substitution C T intron_variant MELA-AU 17 9533214 9533214 single base substitution C T upstream_gene_variant MELA-AU 17 9533441 9533441 single base substitution C T intron_variant MELA-AU 17 9533441 9533441 single base substitution C T upstream_gene_variant MELA-AU 17 9533454 9533455 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 17 9533454 9533455 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 17 9533462 9533462 single base substitution C T intron_variant MELA-AU 17 9533462 9533462 single base substitution C T upstream_gene_variant MELA-AU 17 9533721 9533721 single base substitution C T intron_variant MELA-AU 17 9533721 9533721 single base substitution C T upstream_gene_variant MELA-AU 17 9533789 9533789 single base substitution C T intron_variant MELA-AU 17 9533789 9533789 single base substitution C T upstream_gene_variant MELA-AU 17 9533810 9533810 single base substitution G A intron_variant MELA-AU 17 9533810 9533810 single base substitution G A upstream_gene_variant MELA-AU 17 9533972 9533972 single base substitution C T intron_variant MELA-AU 17 9533972 9533972 single base substitution C T upstream_gene_variant MELA-AU 17 9533974 9533974 single base substitution C T intron_variant MELA-AU 17 9533974 9533974 single base substitution C T upstream_gene_variant MELA-AU 17 9534095 9534095 single base substitution G A intron_variant MELA-AU 17 9534095 9534095 single base substitution G A upstream_gene_variant MELA-AU 17 9534122 9534122 single base substitution G A intron_variant MELA-AU 17 9534122 9534122 single base substitution G A upstream_gene_variant MELA-AU 17 9534190 9534190 single base substitution C T intron_variant MELA-AU 17 9534190 9534190 single base substitution C T upstream_gene_variant MELA-AU 17 9534230 9534230 single base substitution G A intron_variant MELA-AU 17 9534230 9534230 single base substitution G A upstream_gene_variant MELA-AU 17 9534349 9534349 single base substitution G A intron_variant MELA-AU 17 9534349 9534349 single base substitution G A upstream_gene_variant MELA-AU 17 9534768 9534768 single base substitution G C intron_variant MELA-AU 17 9534768 9534768 single base substitution G C upstream_gene_variant MELA-AU 17 9534909 9534909 single base substitution G A intron_variant MELA-AU 17 9534909 9534909 single base substitution G A upstream_gene_variant MELA-AU 17 9535219 9535219 single base substitution G A intron_variant MELA-AU 17 9535219 9535219 single base substitution G A upstream_gene_variant MELA-AU 17 9535358 9535358 single base substitution G A intron_variant MELA-AU 17 9535358 9535358 single base substitution G A upstream_gene_variant MELA-AU 17 9535367 9535367 single base substitution G A intron_variant MELA-AU 17 9535367 9535367 single base substitution G A upstream_gene_variant MELA-AU 17 9535456 9535456 single base substitution G A intron_variant MELA-AU 17 9535456 9535456 single base substitution G A upstream_gene_variant MELA-AU 17 9535659 9535660 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 9535659 9535660 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 9535930 9535930 single base substitution G A intron_variant MELA-AU 17 9535930 9535930 single base substitution G A upstream_gene_variant MELA-AU 17 9535942 9535942 single base substitution G A intron_variant MELA-AU 17 9535942 9535942 single base substitution G A upstream_gene_variant MELA-AU 17 9536047 9536047 single base substitution G A intron_variant MELA-AU 17 9536047 9536047 single base substitution G A upstream_gene_variant MELA-AU 17 9536049 9536049 single base substitution A T intron_variant MELA-AU 17 9536049 9536049 single base substitution A T upstream_gene_variant MELA-AU 17 9536086 9536086 single base substitution C T intron_variant MELA-AU 17 9536086 9536086 single base substitution C T upstream_gene_variant MELA-AU 17 9536093 9536093 single base substitution C T intron_variant MELA-AU 17 9536093 9536093 single base substitution C T upstream_gene_variant MELA-AU 17 9536477 9536477 single base substitution G T intron_variant MELA-AU 17 9536477 9536477 single base substitution G T upstream_gene_variant MELA-AU 17 9536487 9536487 single base substitution G A intron_variant MELA-AU 17 9536487 9536487 single base substitution G A upstream_gene_variant MELA-AU 17 9536779 9536780 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 9536779 9536780 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 9536809 9536809 single base substitution A G intron_variant MELA-AU 17 9536809 9536809 single base substitution A G upstream_gene_variant MELA-AU 17 9536956 9536956 single base substitution C T intron_variant MELA-AU 17 9536956 9536956 single base substitution C T upstream_gene_variant MELA-AU 17 9537058 9537058 single base substitution A T intron_variant MELA-AU 17 9537058 9537058 single base substitution A T upstream_gene_variant MELA-AU 17 9537181 9537181 single base substitution G A intron_variant MELA-AU 17 9537181 9537181 single base substitution G A upstream_gene_variant MELA-AU 17 9537469 9537469 single base substitution C T intron_variant MELA-AU 17 9537469 9537469 single base substitution C T upstream_gene_variant MELA-AU 17 9537498 9537498 single base substitution C T intron_variant MELA-AU 17 9537498 9537498 single base substitution C T upstream_gene_variant MELA-AU 17 9537503 9537503 single base substitution C T intron_variant MELA-AU 17 9537503 9537503 single base substitution C T upstream_gene_variant MELA-AU 17 9537509 9537509 single base substitution G A intron_variant MELA-AU 17 9537509 9537509 single base substitution G A upstream_gene_variant MELA-AU 17 9537601 9537601 single base substitution C T intron_variant MELA-AU 17 9537601 9537601 single base substitution C T upstream_gene_variant MELA-AU 17 9537672 9537672 single base substitution G A intron_variant MELA-AU 17 9537672 9537672 single base substitution G A upstream_gene_variant MELA-AU 17 9537837 9537837 single base substitution G A intron_variant MELA-AU 17 9537837 9537837 single base substitution G A upstream_gene_variant MELA-AU 17 9537914 9537914 single base substitution G A intron_variant MELA-AU 17 9537914 9537914 single base substitution G A upstream_gene_variant MELA-AU 17 9538091 9538091 single base substitution G A intron_variant MELA-AU 17 9538091 9538091 single base substitution G A upstream_gene_variant MELA-AU 17 9538092 9538092 single base substitution G A intron_variant MELA-AU 17 9538092 9538092 single base substitution G A upstream_gene_variant MELA-AU 17 9538149 9538149 single base substitution T G intron_variant MELA-AU 17 9538149 9538149 single base substitution T G upstream_gene_variant MELA-AU 17 9538380 9538380 single base substitution G A intron_variant MELA-AU 17 9538380 9538380 single base substitution G A upstream_gene_variant MELA-AU 17 9538439 9538439 single base substitution G A intron_variant MELA-AU 17 9538439 9538439 single base substitution G A upstream_gene_variant MELA-AU 17 9538670 9538670 single base substitution C T intron_variant MELA-AU 17 9538670 9538670 single base substitution C T upstream_gene_variant MELA-AU 17 9538671 9538671 single base substitution C T intron_variant MELA-AU 17 9538671 9538671 single base substitution C T upstream_gene_variant MELA-AU 17 9538677 9538677 single base substitution G A intron_variant MELA-AU 17 9538677 9538677 single base substitution G A upstream_gene_variant MELA-AU 17 9539105 9539105 single base substitution G A intron_variant MELA-AU 17 9539113 9539113 single base substitution C A intron_variant MELA-AU 17 9539161 9539161 single base substitution C T intron_variant MELA-AU 17 9539287 9539287 single base substitution C T intron_variant MELA-AU 17 9539528 9539528 single base substitution G A intron_variant MELA-AU 17 9539568 9539568 single base substitution G A intron_variant MELA-AU 17 9539582 9539582 single base substitution A C intron_variant MELA-AU 17 9539630 9539630 single base substitution C T intron_variant MELA-AU 17 9539656 9539656 single base substitution G A intron_variant MELA-AU 17 9539969 9539969 single base substitution G A intron_variant MELA-AU 17 9540589 9540589 single base substitution G A intron_variant MELA-AU 17 9541249 9541249 single base substitution G A intron_variant MELA-AU 17 9541265 9541265 single base substitution G A intron_variant MELA-AU 17 9541350 9541350 single base substitution G A intron_variant MELA-AU 17 9541474 9541474 single base substitution G A intron_variant MELA-AU 17 9541634 9541634 single base substitution G A intron_variant MELA-AU 17 9541689 9541689 single base substitution C T intron_variant MELA-AU 17 9541888 9541888 single base substitution G A intron_variant MELA-AU 17 9541968 9541968 single base substitution C T 3_prime_UTR_variant MELA-AU 17 9541968 9541968 single base substitution C T exon_variant MELA-AU 17 9541968 9541968 single base substitution C T synonymous_variant F437F 1311C>T MELA-AU 17 9541968 9541968 single base substitution C T synonymous_variant F505F 1515C>T MELA-AU 17 9541968 9541968 single base substitution C T synonymous_variant F515F 1545C>T MELA-AU 17 9541968 9541968 single base substitution C T synonymous_variant F56F 168C>T MELA-AU 17 9542104 9542104 single base substitution G A intron_variant MELA-AU 17 9542247 9542247 single base substitution G A intron_variant MELA-AU 17 9542515 9542515 single base substitution G T downstream_gene_variant MELA-AU 17 9542515 9542515 single base substitution G T intron_variant MELA-AU 17 9542651 9542651 single base substitution G A downstream_gene_variant MELA-AU 17 9542651 9542651 single base substitution G A intron_variant MELA-AU 17 9542823 9542823 single base substitution G A downstream_gene_variant MELA-AU 17 9542823 9542823 single base substitution G A intron_variant MELA-AU 17 9542998 9542998 single base substitution G A downstream_gene_variant MELA-AU 17 9542998 9542998 single base substitution G A intron_variant MELA-AU 17 9543033 9543033 single base substitution G A downstream_gene_variant MELA-AU 17 9543033 9543033 single base substitution G A intron_variant MELA-AU 17 9543062 9543062 single base substitution G A downstream_gene_variant MELA-AU 17 9543062 9543062 single base substitution G A intron_variant MELA-AU 17 9543704 9543704 single base substitution C T downstream_gene_variant MELA-AU 17 9543704 9543704 single base substitution C T intron_variant MELA-AU 17 9543725 9543725 single base substitution C T downstream_gene_variant MELA-AU 17 9543725 9543725 single base substitution C T intron_variant MELA-AU 17 9543882 9543883 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 9543882 9543883 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 9544051 9544051 single base substitution C T downstream_gene_variant MELA-AU 17 9544051 9544051 single base substitution C T intron_variant MELA-AU 17 9544946 9544946 single base substitution C A downstream_gene_variant MELA-AU 17 9544946 9544946 single base substitution C A intron_variant MELA-AU 17 9545275 9545275 single base substitution C T downstream_gene_variant MELA-AU 17 9545275 9545275 single base substitution C T intron_variant MELA-AU 17 9545716 9545716 single base substitution G A downstream_gene_variant MELA-AU 17 9545716 9545716 single base substitution G A intron_variant MELA-AU 17 9546639 9546639 single base substitution C T 3_prime_UTR_variant MELA-AU 17 9546639 9546639 single base substitution C T downstream_gene_variant MELA-AU 17 9547070 9547070 single base substitution G A downstream_gene_variant MELA-AU 17 9547401 9547401 single base substitution G A downstream_gene_variant MELA-AU 17 9547935 9547935 single base substitution G A downstream_gene_variant MELA-AU 17 9548579 9548579 single base substitution C A downstream_gene_variant MELA-AU 17 9549255 9549255 single base substitution C A downstream_gene_variant MELA-AU 17 9550588 9550588 single base substitution C T downstream_gene_variant MELA-AU 17 9551034 9551034 single base substitution G A downstream_gene_variant MELA-AU 17 9551369 9551369 single base substitution C T downstream_gene_variant MELA-AU 17 9551644 9551644 single base substitution C T downstream_gene_variant ORCA-IN 17 9501177 9501180 deletion of <=200bp AGAA - downstream_gene_variant ORCA-IN 17 9501177 9501180 deletion of <=200bp AGAA - intron_variant ORCA-IN 17 9527300 9527300 single base substitution C A intron_variant ORCA-IN 17 9536391 9536391 single base substitution G C intron_variant ORCA-IN 17 9536391 9536391 single base substitution G C upstream_gene_variant ORCA-IN 17 9538281 9538281 single base substitution C A intron_variant ORCA-IN 17 9538281 9538281 single base substitution C A upstream_gene_variant ORCA-IN 17 9542904 9542904 single base substitution G A downstream_gene_variant ORCA-IN 17 9542904 9542904 single base substitution G A intron_variant OV-AU 17 9476134 9476134 single base substitution A G upstream_gene_variant OV-AU 17 9480232 9480232 single base substitution A G intron_variant OV-AU 17 9482077 9482077 single base substitution A G intron_variant OV-AU 17 9489813 9489813 single base substitution G T intron_variant OV-AU 17 9490096 9490096 single base substitution G A 3_prime_UTR_variant OV-AU 17 9490096 9490096 single base substitution G A exon_variant OV-AU 17 9490096 9490096 single base substitution G A intron_variant OV-AU 17 9490096 9490096 single base substitution G A missense_variant A118T 352G>A OV-AU 17 9490096 9490096 single base substitution G A missense_variant A128T 382G>A OV-AU 17 9490096 9490096 single base substitution G A missense_variant A50T 148G>A OV-AU 17 9490096 9490096 single base substitution G A stop_gained W116* 348G>A OV-AU 17 9491607 9491607 single base substitution G A intron_variant OV-AU 17 9494253 9494253 single base substitution T G intron_variant OV-AU 17 9501471 9501471 single base substitution T C downstream_gene_variant OV-AU 17 9501471 9501471 single base substitution T C intron_variant OV-AU 17 9503677 9503677 single base substitution G C downstream_gene_variant OV-AU 17 9503677 9503677 single base substitution G C intron_variant OV-AU 17 9505168 9505168 single base substitution C G downstream_gene_variant OV-AU 17 9505168 9505168 single base substitution C G intron_variant OV-AU 17 9513450 9513450 single base substitution A G intron_variant OV-AU 17 9525529 9525529 single base substitution C G intron_variant OV-AU 17 9530721 9530721 single base substitution G A intron_variant OV-AU 17 9541049 9541049 single base substitution G A intron_variant PACA-AU 17 9479581 9479581 deletion of <=200bp T - upstream_gene_variant PACA-AU 17 9480613 9480613 single base substitution G T intron_variant PACA-AU 17 9484644 9484644 single base substitution T C intron_variant PACA-AU 17 9484644 9484644 single base substitution T C upstream_gene_variant PACA-AU 17 9486065 9486065 single base substitution T C intron_variant PACA-AU 17 9486065 9486065 single base substitution T C upstream_gene_variant PACA-AU 17 9490053 9490053 single base substitution G T 3_prime_UTR_variant PACA-AU 17 9490053 9490053 single base substitution G T exon_variant PACA-AU 17 9490053 9490053 single base substitution G T intron_variant PACA-AU 17 9490053 9490053 single base substitution G T missense_variant C102F 305G>T PACA-AU 17 9490053 9490053 single base substitution G T synonymous_variant L103L 309G>T PACA-AU 17 9490053 9490053 single base substitution G T synonymous_variant L113L 339G>T PACA-AU 17 9490053 9490053 single base substitution G T synonymous_variant L35L 105G>T PACA-AU 17 9490877 9490877 single base substitution T C intron_variant PACA-AU 17 9492465 9492465 single base substitution T C intron_variant PACA-AU 17 9498262 9498262 single base substitution C T downstream_gene_variant PACA-AU 17 9498262 9498262 single base substitution C T intron_variant PACA-AU 17 9516996 9516996 single base substitution G A downstream_gene_variant PACA-AU 17 9516996 9516996 single base substitution G A intron_variant PACA-AU 17 9518997 9518997 single base substitution C T downstream_gene_variant PACA-AU 17 9518997 9518997 single base substitution C T intron_variant PACA-AU 17 9530759 9530759 single base substitution T G intron_variant PACA-AU 17 9536638 9536638 single base substitution C T intron_variant PACA-AU 17 9536638 9536638 single base substitution C T upstream_gene_variant PACA-AU 17 9539909 9539909 single base substitution C A intron_variant PACA-AU 17 9543533 9543533 single base substitution C A downstream_gene_variant PACA-AU 17 9543533 9543533 single base substitution C A intron_variant PACA-AU 17 9551333 9551333 single base substitution G A downstream_gene_variant PACA-CA 17 9477604 9477604 single base substitution A C upstream_gene_variant PACA-CA 17 9479510 9479510 single base substitution C A upstream_gene_variant PACA-CA 17 9480213 9480213 single base substitution C T intron_variant PACA-CA 17 9481430 9481430 single base substitution A G intron_variant PACA-CA 17 9482265 9482265 single base substitution A G intron_variant PACA-CA 17 9483915 9483915 single base substitution A G intron_variant PACA-CA 17 9483915 9483915 single base substitution A G upstream_gene_variant PACA-CA 17 9483929 9483929 single base substitution C A intron_variant PACA-CA 17 9483929 9483929 single base substitution C A upstream_gene_variant PACA-CA 17 9484929 9484929 single base substitution G C intron_variant PACA-CA 17 9484929 9484929 single base substitution G C upstream_gene_variant PACA-CA 17 9486925 9486925 insertion of <=200bp - TA intron_variant PACA-CA 17 9486925 9486925 insertion of <=200bp - TA upstream_gene_variant PACA-CA 17 9487200 9487200 single base substitution G T intron_variant PACA-CA 17 9487200 9487200 single base substitution G T upstream_gene_variant PACA-CA 17 9488177 9488177 single base substitution T A intron_variant PACA-CA 17 9488177 9488177 single base substitution T A upstream_gene_variant PACA-CA 17 9488558 9488558 single base substitution T C intron_variant PACA-CA 17 9488558 9488558 single base substitution T C upstream_gene_variant PACA-CA 17 9489441 9489441 single base substitution G A intron_variant PACA-CA 17 9489525 9489525 single base substitution G A intron_variant PACA-CA 17 9491620 9491620 single base substitution G A intron_variant PACA-CA 17 9491895 9491895 single base substitution C T intron_variant PACA-CA 17 9491908 9491908 single base substitution G A intron_variant PACA-CA 17 9492922 9492922 single base substitution C T intron_variant PACA-CA 17 9493935 9493935 single base substitution G A intron_variant PACA-CA 17 9497414 9497414 deletion of <=200bp T - intron_variant PACA-CA 17 9498797 9498797 single base substitution G A downstream_gene_variant PACA-CA 17 9498797 9498797 single base substitution G A intron_variant PACA-CA 17 9498809 9498809 single base substitution C T downstream_gene_variant PACA-CA 17 9498809 9498809 single base substitution C T intron_variant PACA-CA 17 9498927 9498927 single base substitution G T downstream_gene_variant PACA-CA 17 9498927 9498927 single base substitution G T intron_variant PACA-CA 17 9507157 9507157 single base substitution A T downstream_gene_variant PACA-CA 17 9507157 9507157 single base substitution A T intron_variant PACA-CA 17 9508100 9508100 single base substitution A G downstream_gene_variant PACA-CA 17 9508100 9508100 single base substitution A G intron_variant PACA-CA 17 9508119 9508119 single base substitution T C downstream_gene_variant PACA-CA 17 9508119 9508119 single base substitution T C intron_variant PACA-CA 17 9509388 9509388 deletion of <=200bp A - intron_variant PACA-CA 17 9514838 9514838 single base substitution A G intron_variant PACA-CA 17 9515124 9515124 single base substitution T A intron_variant PACA-CA 17 9517630 9517630 single base substitution G A downstream_gene_variant PACA-CA 17 9517630 9517630 single base substitution G A intron_variant PACA-CA 17 9517894 9517894 single base substitution C T downstream_gene_variant PACA-CA 17 9517894 9517894 single base substitution C T intron_variant PACA-CA 17 9527954 9527954 single base substitution G T intron_variant PACA-CA 17 9531220 9531220 insertion of <=200bp - T intron_variant PACA-CA 17 9537253 9537253 single base substitution C T intron_variant PACA-CA 17 9537253 9537253 single base substitution C T upstream_gene_variant PACA-CA 17 9540723 9540723 single base substitution T C intron_variant PAEN-AU 17 9485435 9485435 single base substitution G T intron_variant PAEN-AU 17 9485435 9485435 single base substitution G T upstream_gene_variant PAEN-AU 17 9491132 9491132 single base substitution C T intron_variant PAEN-AU 17 9491683 9491683 single base substitution G A intron_variant PAEN-AU 17 9508068 9508071 deletion of <=200bp AAAT - downstream_gene_variant PAEN-AU 17 9508068 9508071 deletion of <=200bp AAAT - intron_variant PAEN-AU 17 9514063 9514063 single base substitution C T intron_variant PAEN-AU 17 9533650 9533650 single base substitution C A intron_variant PAEN-AU 17 9533650 9533650 single base substitution C A upstream_gene_variant PAEN-IT 17 9476467 9476467 single base substitution G T upstream_gene_variant PAEN-IT 17 9476913 9476913 single base substitution G A upstream_gene_variant PAEN-IT 17 9489062 9489062 single base substitution A T intron_variant PAEN-IT 17 9489062 9489062 single base substitution A T upstream_gene_variant PAEN-IT 17 9549175 9549175 single base substitution G T downstream_gene_variant PBCA-DE 17 9491555 9491555 single base substitution A G intron_variant PBCA-DE 17 9501121 9501122 deletion of <=200bp AG - downstream_gene_variant PBCA-DE 17 9501121 9501122 deletion of <=200bp AG - intron_variant PBCA-DE 17 9515628 9515628 single base substitution A T missense_variant K218M 653A>T PBCA-DE 17 9515628 9515628 single base substitution A T missense_variant K286M 857A>T PBCA-DE 17 9515628 9515628 single base substitution A T missense_variant K296M 887A>T PBCA-DE 17 9515628 9515628 single base substitution A T splice_region_variant PRAD-CA 17 9483018 9483018 single base substitution G A intron_variant PRAD-CA 17 9483018 9483018 single base substitution G A upstream_gene_variant PRAD-CA 17 9500053 9500053 single base substitution A T downstream_gene_variant PRAD-CA 17 9500053 9500053 single base substitution A T intron_variant PRAD-CA 17 9501444 9501444 single base substitution C T downstream_gene_variant PRAD-CA 17 9501444 9501444 single base substitution C T intron_variant PRAD-CA 17 9512984 9512984 single base substitution C A intron_variant PRAD-CA 17 9517600 9517600 single base substitution G A downstream_gene_variant PRAD-CA 17 9517600 9517600 single base substitution G A intron_variant PRAD-CA 17 9540398 9540398 single base substitution A C intron_variant PRAD-UK 17 9487832 9487832 single base substitution C T intron_variant PRAD-UK 17 9487832 9487832 single base substitution C T upstream_gene_variant PRAD-UK 17 9491683 9491683 single base substitution G A intron_variant PRAD-UK 17 9492072 9492072 single base substitution T A intron_variant PRAD-UK 17 9504743 9504743 single base substitution A T downstream_gene_variant PRAD-UK 17 9504743 9504743 single base substitution A T intron_variant PRAD-UK 17 9509821 9509821 single base substitution C T intron_variant PRAD-UK 17 9517064 9517064 single base substitution G A downstream_gene_variant PRAD-UK 17 9517064 9517064 single base substitution G A intron_variant PRAD-UK 17 9536880 9536880 insertion of <=200bp - AAGTGC intron_variant PRAD-UK 17 9536880 9536880 insertion of <=200bp - AAGTGC upstream_gene_variant PRAD-UK 17 9540390 9540390 insertion of <=200bp - A intron_variant PRAD-UK 17 9543386 9543386 single base substitution T A downstream_gene_variant PRAD-UK 17 9543386 9543386 single base substitution T A intron_variant PRAD-UK 17 9544270 9544270 single base substitution G A downstream_gene_variant PRAD-UK 17 9544270 9544270 single base substitution G A intron_variant RECA-EU 17 9482008 9482008 single base substitution A T intron_variant RECA-EU 17 9489929 9489929 single base substitution T A intron_variant RECA-EU 17 9513922 9513922 single base substitution G A intron_variant RECA-EU 17 9525490 9525490 single base substitution T C intron_variant RECA-EU 17 9529996 9529996 single base substitution T C intron_variant RECA-EU 17 9531263 9531263 single base substitution C A intron_variant RECA-EU 17 9532974 9532974 single base substitution C A intron_variant RECA-EU 17 9532974 9532974 single base substitution C A upstream_gene_variant SKCA-BR 17 9477843 9477843 single base substitution G A upstream_gene_variant SKCA-BR 17 9483635 9483635 insertion of <=200bp - TA intron_variant SKCA-BR 17 9483635 9483635 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 17 9484408 9484408 single base substitution T G intron_variant SKCA-BR 17 9484408 9484408 single base substitution T G upstream_gene_variant SKCA-BR 17 9484434 9484434 single base substitution C T intron_variant SKCA-BR 17 9484434 9484434 single base substitution C T upstream_gene_variant SKCA-BR 17 9485660 9485660 single base substitution C T intron_variant SKCA-BR 17 9485660 9485660 single base substitution C T upstream_gene_variant SKCA-BR 17 9488209 9488209 single base substitution G A intron_variant SKCA-BR 17 9488209 9488209 single base substitution G A upstream_gene_variant SKCA-BR 17 9488880 9488880 single base substitution C T intron_variant SKCA-BR 17 9488880 9488880 single base substitution C T upstream_gene_variant SKCA-BR 17 9490218 9490218 single base substitution A T intron_variant SKCA-BR 17 9490487 9490487 single base substitution C T intron_variant SKCA-BR 17 9492344 9492344 single base substitution G T intron_variant SKCA-BR 17 9493118 9493118 insertion of <=200bp - CTTTTTTT intron_variant SKCA-BR 17 9495347 9495347 single base substitution G A intron_variant SKCA-BR 17 9495460 9495460 single base substitution A T intron_variant SKCA-BR 17 9496014 9496014 single base substitution C T intron_variant SKCA-BR 17 9496971 9496971 single base substitution C T intron_variant SKCA-BR 17 9499368 9499368 insertion of <=200bp - ATGTGTGTG downstream_gene_variant SKCA-BR 17 9499368 9499368 insertion of <=200bp - ATGTGTGTG intron_variant SKCA-BR 17 9501120 9501120 insertion of <=200bp - AAG downstream_gene_variant SKCA-BR 17 9501120 9501120 insertion of <=200bp - AAG intron_variant SKCA-BR 17 9502988 9502988 single base substitution G A downstream_gene_variant SKCA-BR 17 9502988 9502988 single base substitution G A intron_variant SKCA-BR 17 9504686 9504686 single base substitution A G downstream_gene_variant SKCA-BR 17 9504686 9504686 single base substitution A G intron_variant SKCA-BR 17 9505597 9505597 single base substitution C T downstream_gene_variant SKCA-BR 17 9505597 9505597 single base substitution C T intron_variant SKCA-BR 17 9505858 9505858 single base substitution G A downstream_gene_variant SKCA-BR 17 9505858 9505858 single base substitution G A intron_variant SKCA-BR 17 9506518 9506518 single base substitution C T downstream_gene_variant SKCA-BR 17 9506518 9506518 single base substitution C T intron_variant SKCA-BR 17 9506757 9506757 single base substitution A C downstream_gene_variant SKCA-BR 17 9506757 9506757 single base substitution A C intron_variant SKCA-BR 17 9507364 9507364 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 17 9507364 9507364 insertion of <=200bp - GA intron_variant SKCA-BR 17 9507755 9507755 single base substitution G A downstream_gene_variant SKCA-BR 17 9507755 9507755 single base substitution G A intron_variant SKCA-BR 17 9508067 9508071 deletion of <=200bp AAAAT - downstream_gene_variant SKCA-BR 17 9508067 9508071 deletion of <=200bp AAAAT - intron_variant SKCA-BR 17 9511571 9511571 single base substitution G A intron_variant SKCA-BR 17 9513202 9513202 single base substitution T C intron_variant SKCA-BR 17 9513511 9513511 single base substitution A G intron_variant SKCA-BR 17 9516546 9516546 single base substitution G A downstream_gene_variant SKCA-BR 17 9516546 9516546 single base substitution G A intron_variant SKCA-BR 17 9517172 9517172 single base substitution C T downstream_gene_variant SKCA-BR 17 9517172 9517172 single base substitution C T intron_variant SKCA-BR 17 9517244 9517244 single base substitution C G downstream_gene_variant SKCA-BR 17 9517244 9517244 single base substitution C G intron_variant SKCA-BR 17 9517449 9517449 single base substitution C T downstream_gene_variant SKCA-BR 17 9517449 9517449 single base substitution C T intron_variant SKCA-BR 17 9518184 9518184 single base substitution C T downstream_gene_variant SKCA-BR 17 9518184 9518184 single base substitution C T intron_variant SKCA-BR 17 9519110 9519112 deletion of <=200bp TTC - downstream_gene_variant SKCA-BR 17 9519110 9519112 deletion of <=200bp TTC - intron_variant SKCA-BR 17 9519112 9519112 single base substitution C T downstream_gene_variant SKCA-BR 17 9519112 9519112 single base substitution C T intron_variant SKCA-BR 17 9520337 9520337 single base substitution A G downstream_gene_variant SKCA-BR 17 9520337 9520337 single base substitution A G intron_variant SKCA-BR 17 9520339 9520339 single base substitution A G downstream_gene_variant SKCA-BR 17 9520339 9520339 single base substitution A G intron_variant SKCA-BR 17 9521513 9521513 single base substitution A G intron_variant SKCA-BR 17 9521922 9521922 single base substitution G A intron_variant SKCA-BR 17 9522072 9522072 single base substitution G A intron_variant SKCA-BR 17 9525683 9525683 single base substitution G A intron_variant SKCA-BR 17 9526012 9526012 single base substitution T G intron_variant SKCA-BR 17 9526317 9526317 single base substitution C T intron_variant SKCA-BR 17 9526364 9526364 single base substitution T A intron_variant SKCA-BR 17 9526504 9526504 single base substitution C T intron_variant SKCA-BR 17 9527147 9527147 single base substitution G A intron_variant SKCA-BR 17 9527566 9527566 single base substitution C T intron_variant SKCA-BR 17 9528299 9528299 single base substitution C T intron_variant SKCA-BR 17 9529979 9529979 single base substitution C T intron_variant SKCA-BR 17 9531136 9531136 single base substitution C T intron_variant SKCA-BR 17 9531837 9531837 single base substitution C T intron_variant SKCA-BR 17 9531837 9531837 single base substitution C T upstream_gene_variant SKCA-BR 17 9533366 9533366 single base substitution C T intron_variant SKCA-BR 17 9533366 9533366 single base substitution C T upstream_gene_variant SKCA-BR 17 9533960 9533960 single base substitution G A intron_variant SKCA-BR 17 9533960 9533960 single base substitution G A upstream_gene_variant SKCA-BR 17 9534343 9534345 deletion of <=200bp GAA - intron_variant SKCA-BR 17 9534343 9534345 deletion of <=200bp GAA - upstream_gene_variant SKCA-BR 17 9534345 9534345 single base substitution A G intron_variant SKCA-BR 17 9534345 9534345 single base substitution A G upstream_gene_variant SKCA-BR 17 9534369 9534369 insertion of <=200bp - GAGAGAGAAAGAAAGAA intron_variant SKCA-BR 17 9534369 9534369 insertion of <=200bp - GAGAGAGAAAGAAAGAA upstream_gene_variant SKCA-BR 17 9534371 9534373 deletion of <=200bp GAA - intron_variant SKCA-BR 17 9534371 9534373 deletion of <=200bp GAA - upstream_gene_variant SKCA-BR 17 9534399 9534399 insertion of <=200bp - GAAAGAAAGAAAGAAAGAA intron_variant SKCA-BR 17 9534399 9534399 insertion of <=200bp - GAAAGAAAGAAAGAAAGAA upstream_gene_variant SKCA-BR 17 9534824 9534824 single base substitution G T intron_variant SKCA-BR 17 9534824 9534824 single base substitution G T upstream_gene_variant SKCA-BR 17 9536343 9536343 single base substitution A G 3_prime_UTR_variant SKCA-BR 17 9536343 9536343 single base substitution A G exon_variant SKCA-BR 17 9536343 9536343 single base substitution A G missense_variant E370G 1109A>G SKCA-BR 17 9536343 9536343 single base substitution A G missense_variant E438G 1313A>G SKCA-BR 17 9536343 9536343 single base substitution A G missense_variant E448G 1343A>G SKCA-BR 17 9536343 9536343 single base substitution A G upstream_gene_variant SKCA-BR 17 9536595 9536595 single base substitution C T intron_variant SKCA-BR 17 9536595 9536595 single base substitution C T upstream_gene_variant SKCA-BR 17 9536605 9536605 single base substitution T C intron_variant SKCA-BR 17 9536605 9536605 single base substitution T C upstream_gene_variant SKCA-BR 17 9538671 9538671 single base substitution C T intron_variant SKCA-BR 17 9538671 9538671 single base substitution C T upstream_gene_variant SKCA-BR 17 9539508 9539508 insertion of <=200bp - GA intron_variant SKCA-BR 17 9539570 9539570 single base substitution G A intron_variant SKCA-BR 17 9539841 9539841 single base substitution C A intron_variant SKCA-BR 17 9540065 9540065 single base substitution T A intron_variant SKCA-BR 17 9540085 9540085 single base substitution T G intron_variant SKCA-BR 17 9542282 9542282 single base substitution G A intron_variant SKCA-BR 17 9543054 9543054 single base substitution T G downstream_gene_variant SKCA-BR 17 9543054 9543054 single base substitution T G intron_variant SKCA-BR 17 9546075 9546075 single base substitution T C downstream_gene_variant SKCA-BR 17 9546075 9546075 single base substitution T C intron_variant SKCA-BR 17 9550378 9550379 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 17 9551045 9551045 single base substitution A T downstream_gene_variant SKCA-BR 17 9551096 9551096 single base substitution T G downstream_gene_variant SKCM-US 17 9489185 9489185 single base substitution G A 3_prime_UTR_variant SKCM-US 17 9489185 9489185 single base substitution G A intron_variant SKCM-US 17 9489185 9489185 single base substitution G A missense_variant E56K 166G>A SKCM-US 17 9489185 9489185 single base substitution G A missense_variant E66K 196G>A SKCM-US 17 9489185 9489185 single base substitution G A upstream_gene_variant SKCM-US 17 9489222 9489222 single base substitution C T 3_prime_UTR_variant SKCM-US 17 9489222 9489222 single base substitution C T intron_variant SKCM-US 17 9489222 9489222 single base substitution C T missense_variant S68F 203C>T SKCM-US 17 9489222 9489222 single base substitution C T missense_variant S78F 233C>T SKCM-US 17 9489222 9489222 single base substitution C T upstream_gene_variant SKCM-US 17 9497522 9497522 single base substitution G A 3_prime_UTR_variant SKCM-US 17 9497522 9497522 single base substitution G A exon_variant SKCM-US 17 9497522 9497522 single base substitution G A intron_variant SKCM-US 17 9497522 9497522 single base substitution G A stop_gained W140* 420G>A SKCM-US 17 9497522 9497522 single base substitution G A stop_gained W150* 450G>A SKCM-US 17 9497522 9497522 single base substitution G A stop_gained W72* 216G>A SKCM-US 17 9497554 9497554 single base substitution G A 3_prime_UTR_variant SKCM-US 17 9497554 9497554 single base substitution G A exon_variant SKCM-US 17 9497554 9497554 single base substitution G A intron_variant SKCM-US 17 9497554 9497554 single base substitution G A missense_variant S151N 452G>A SKCM-US 17 9497554 9497554 single base substitution G A missense_variant S161N 482G>A SKCM-US 17 9497554 9497554 single base substitution G A missense_variant S83N 248G>A SKCM-US 17 9515626 9515626 single base substitution G A splice_region_variant SKCM-US 17 9515650 9515650 single base substitution C G 3_prime_UTR_variant SKCM-US 17 9515650 9515650 single base substitution C G missense_variant I225M 675C>G SKCM-US 17 9515650 9515650 single base substitution C G missense_variant I293M 879C>G SKCM-US 17 9515650 9515650 single base substitution C G missense_variant I303M 909C>G SKCM-US 17 9515667 9515667 single base substitution G A 3_prime_UTR_variant SKCM-US 17 9515667 9515667 single base substitution G A missense_variant R231Q 692G>A SKCM-US 17 9515667 9515667 single base substitution G A missense_variant R299Q 896G>A SKCM-US 17 9515667 9515667 single base substitution G A missense_variant R309Q 926G>A SKCM-US 17 9515711 9515711 single base substitution A C 3_prime_UTR_variant SKCM-US 17 9515711 9515711 single base substitution A C downstream_gene_variant SKCM-US 17 9515711 9515711 single base substitution A C missense_variant I246L 736A>C SKCM-US 17 9515711 9515711 single base substitution A C missense_variant I314L 940A>C SKCM-US 17 9515711 9515711 single base substitution A C missense_variant I324L 970A>C SKCM-US 17 9515755 9515755 single base substitution G A 3_prime_UTR_variant SKCM-US 17 9515755 9515755 single base substitution G A downstream_gene_variant SKCM-US 17 9515755 9515755 single base substitution G A synonymous_variant A260A 780G>A SKCM-US 17 9515755 9515755 single base substitution G A synonymous_variant A328A 984G>A SKCM-US 17 9515755 9515755 single base substitution G A synonymous_variant A338A 1014G>A SKCM-US 17 9515788 9515788 single base substitution C T 3_prime_UTR_variant SKCM-US 17 9515788 9515788 single base substitution C T downstream_gene_variant SKCM-US 17 9515788 9515788 single base substitution C T synonymous_variant V271V 813C>T SKCM-US 17 9515788 9515788 single base substitution C T synonymous_variant V339V 1017C>T SKCM-US 17 9515788 9515788 single base substitution C T synonymous_variant V349V 1047C>T SKCM-US 17 9532059 9532059 single base substitution G A 3_prime_UTR_variant SKCM-US 17 9532059 9532059 single base substitution G A missense_variant E298K 892G>A SKCM-US 17 9532059 9532059 single base substitution G A missense_variant E366K 1096G>A SKCM-US 17 9532059 9532059 single base substitution G A missense_variant E376K 1126G>A SKCM-US 17 9532059 9532059 single base substitution G A upstream_gene_variant SKCM-US 17 9532129 9532129 single base substitution T A 3_prime_UTR_variant SKCM-US 17 9532129 9532129 single base substitution T A missense_variant I321N 962T>A SKCM-US 17 9532129 9532129 single base substitution T A missense_variant I389N 1166T>A SKCM-US 17 9532129 9532129 single base substitution T A missense_variant I399N 1196T>A SKCM-US 17 9532129 9532129 single base substitution T A upstream_gene_variant SKCM-US 17 9536216 9536216 single base substitution G A 3_prime_UTR_variant SKCM-US 17 9536216 9536216 single base substitution G A missense_variant G328S 982G>A SKCM-US 17 9536216 9536216 single base substitution G A missense_variant G396S 1186G>A SKCM-US 17 9536216 9536216 single base substitution G A missense_variant G406S 1216G>A SKCM-US 17 9536216 9536216 single base substitution G A upstream_gene_variant SKCM-US 17 9536284 9536284 single base substitution C T 3_prime_UTR_variant SKCM-US 17 9536284 9536284 single base substitution C T exon_variant SKCM-US 17 9536284 9536284 single base substitution C T synonymous_variant I350I 1050C>T SKCM-US 17 9536284 9536284 single base substitution C T synonymous_variant I418I 1254C>T SKCM-US 17 9536284 9536284 single base substitution C T synonymous_variant I428I 1284C>T SKCM-US 17 9536284 9536284 single base substitution C T upstream_gene_variant SKCM-US 17 9538775 9538775 single base substitution G A 3_prime_UTR_variant SKCM-US 17 9538775 9538775 single base substitution G A exon_variant SKCM-US 17 9538775 9538775 single base substitution G A synonymous_variant K390K 1170G>A SKCM-US 17 9538775 9538775 single base substitution G A synonymous_variant K458K 1374G>A SKCM-US 17 9538775 9538775 single base substitution G A synonymous_variant K468K 1404G>A SKCM-US 17 9538775 9538775 single base substitution G A synonymous_variant K9K 27G>A SKCM-US 17 9538848 9538848 single base substitution G A 3_prime_UTR_variant SKCM-US 17 9538848 9538848 single base substitution G A exon_variant SKCM-US 17 9538848 9538848 single base substitution G A missense_variant G34R 100G>A SKCM-US 17 9538848 9538848 single base substitution G A missense_variant G415R 1243G>A SKCM-US 17 9538848 9538848 single base substitution G A missense_variant G483R 1447G>A SKCM-US 17 9538848 9538848 single base substitution G A missense_variant G493R 1477G>A SKCM-US 17 9538849 9538849 single base substitution G A 3_prime_UTR_variant SKCM-US 17 9538849 9538849 single base substitution G A exon_variant SKCM-US 17 9538849 9538849 single base substitution G A missense_variant G34E 101G>A SKCM-US 17 9538849 9538849 single base substitution G A missense_variant G415E 1244G>A SKCM-US 17 9538849 9538849 single base substitution G A missense_variant G483E 1448G>A SKCM-US 17 9538849 9538849 single base substitution G A missense_variant G493E 1478G>A SKCM-US 17 9538850 9538850 single base substitution G A 3_prime_UTR_variant SKCM-US 17 9538850 9538850 single base substitution G A exon_variant SKCM-US 17 9538850 9538850 single base substitution G A synonymous_variant G34G 102G>A SKCM-US 17 9538850 9538850 single base substitution G A synonymous_variant G415G 1245G>A SKCM-US 17 9538850 9538850 single base substitution G A synonymous_variant G483G 1449G>A SKCM-US 17 9538850 9538850 single base substitution G A synonymous_variant G493G 1479G>A SKCM-US 17 9541993 9541993 insertion of <=200bp - A 3_prime_UTR_variant SKCM-US 17 9541993 9541993 insertion of <=200bp - A exon_variant SKCM-US 17 9541993 9541993 insertion of <=200bp - A frameshift_variant E446R? SKCM-US 17 9541993 9541993 insertion of <=200bp - A frameshift_variant E514R? SKCM-US 17 9541993 9541993 insertion of <=200bp - A frameshift_variant E524R? SKCM-US 17 9541993 9541993 insertion of <=200bp - A frameshift_variant E65R? SKCM-US 17 9546490 9546490 single base substitution G A 3_prime_UTR_variant SKCM-US 17 9546490 9546490 single base substitution G A downstream_gene_variant SKCM-US 17 9546490 9546490 single base substitution G A missense_variant R545Q 1634G>A SKCM-US 17 9546490 9546490 single base substitution G A missense_variant R613Q 1838G>A SKCM-US 17 9546490 9546490 single base substitution G A missense_variant R623Q 1868G>A STAD-US 17 9489252 9489252 single base substitution A G 3_prime_UTR_variant STAD-US 17 9489252 9489252 single base substitution A G exon_variant STAD-US 17 9489252 9489252 single base substitution A G intron_variant STAD-US 17 9489252 9489252 single base substitution A G missense_variant Y78C 233A>G STAD-US 17 9489252 9489252 single base substitution A G missense_variant Y88C 263A>G STAD-US 17 9489257 9489257 single base substitution G A 3_prime_UTR_variant STAD-US 17 9489257 9489257 single base substitution G A exon_variant STAD-US 17 9489257 9489257 single base substitution G A intron_variant STAD-US 17 9489257 9489257 single base substitution G A missense_variant A80T 238G>A STAD-US 17 9489257 9489257 single base substitution G A missense_variant A90T 268G>A STAD-US 17 9503394 9503394 single base substitution A G 3_prime_UTR_variant STAD-US 17 9503394 9503394 single base substitution A G downstream_gene_variant STAD-US 17 9503394 9503394 single base substitution A G missense_variant D148G 443A>G STAD-US 17 9503394 9503394 single base substitution A G missense_variant D216G 647A>G STAD-US 17 9503394 9503394 single base substitution A G missense_variant D226G 677A>G STAD-US 17 9503472 9503472 single base substitution T A 3_prime_UTR_variant STAD-US 17 9503472 9503472 single base substitution T A downstream_gene_variant STAD-US 17 9503472 9503472 single base substitution T A missense_variant V174D 521T>A STAD-US 17 9503472 9503472 single base substitution T A missense_variant V242D 725T>A STAD-US 17 9503472 9503472 single base substitution T A missense_variant V252D 755T>A STAD-US 17 9503482 9503482 single base substitution G A 3_prime_UTR_variant STAD-US 17 9503482 9503482 single base substitution G A downstream_gene_variant STAD-US 17 9503482 9503482 single base substitution G A synonymous_variant A177A 531G>A STAD-US 17 9503482 9503482 single base substitution G A synonymous_variant A245A 735G>A STAD-US 17 9503482 9503482 single base substitution G A synonymous_variant A255A 765G>A STAD-US 17 9515631 9515631 single base substitution T A 3_prime_UTR_variant STAD-US 17 9515631 9515631 single base substitution T A missense_variant I219N 656T>A STAD-US 17 9515631 9515631 single base substitution T A missense_variant I287N 860T>A STAD-US 17 9515631 9515631 single base substitution T A missense_variant I297N 890T>A STAD-US 17 9515752 9515752 single base substitution A G 3_prime_UTR_variant STAD-US 17 9515752 9515752 single base substitution A G downstream_gene_variant STAD-US 17 9515752 9515752 single base substitution A G missense_variant I259M 777A>G STAD-US 17 9515752 9515752 single base substitution A G missense_variant I327M 981A>G STAD-US 17 9515752 9515752 single base substitution A G missense_variant I337M 1011A>G STAD-US 17 9536289 9536289 single base substitution T C 3_prime_UTR_variant STAD-US 17 9536289 9536289 single base substitution T C exon_variant STAD-US 17 9536289 9536289 single base substitution T C missense_variant V352A 1055T>C STAD-US 17 9536289 9536289 single base substitution T C missense_variant V420A 1259T>C STAD-US 17 9536289 9536289 single base substitution T C missense_variant V430A 1289T>C STAD-US 17 9536289 9536289 single base substitution T C upstream_gene_variant STAD-US 17 9536336 9536336 single base substitution G A 3_prime_UTR_variant STAD-US 17 9536336 9536336 single base substitution G A exon_variant STAD-US 17 9536336 9536336 single base substitution G A missense_variant G368S 1102G>A STAD-US 17 9536336 9536336 single base substitution G A missense_variant G436S 1306G>A STAD-US 17 9536336 9536336 single base substitution G A missense_variant G446S 1336G>A STAD-US 17 9536336 9536336 single base substitution G A upstream_gene_variant STAD-US 17 9542013 9542013 single base substitution C T 3_prime_UTR_variant STAD-US 17 9542013 9542013 single base substitution C T exon_variant STAD-US 17 9542013 9542013 single base substitution C T synonymous_variant S452S 1356C>T STAD-US 17 9542013 9542013 single base substitution C T synonymous_variant S520S 1560C>T STAD-US 17 9542013 9542013 single base substitution C T synonymous_variant S530S 1590C>T STAD-US 17 9542013 9542013 single base substitution C T synonymous_variant S71S 213C>T STAD-US 17 9546391 9546391 single base substitution C G 3_prime_UTR_variant STAD-US 17 9546391 9546391 single base substitution C G downstream_gene_variant STAD-US 17 9546391 9546391 single base substitution C G missense_variant T512S 1535C>G STAD-US 17 9546391 9546391 single base substitution C G missense_variant T580S 1739C>G STAD-US 17 9546391 9546391 single base substitution C G missense_variant T590S 1769C>G THCA-SA 17 9479154 9479154 single base substitution C T upstream_gene_variant UCEC-US 17 9480029 9480029 single base substitution C T exon_variant UCEC-US 17 9480029 9480029 single base substitution C T missense_variant S6L 17C>T UCEC-US 17 9490146 9490146 single base substitution C T 3_prime_UTR_variant UCEC-US 17 9490146 9490146 single base substitution C T exon_variant UCEC-US 17 9490146 9490146 single base substitution C T intron_variant UCEC-US 17 9490146 9490146 single base substitution C T synonymous_variant D134D 402C>T UCEC-US 17 9490146 9490146 single base substitution C T synonymous_variant D144D 432C>T UCEC-US 17 9490146 9490146 single base substitution C T synonymous_variant D66D 198C>T UCEC-US 17 9490152 9490152 single base substitution G T intron_variant UCEC-US 17 9490152 9490152 single base substitution G T splice_donor_variant UCEC-US 17 9511492 9511492 single base substitution C T 3_prime_UTR_variant UCEC-US 17 9511492 9511492 single base substitution C T synonymous_variant A202A 606C>T UCEC-US 17 9511492 9511492 single base substitution C T synonymous_variant A270A 810C>T UCEC-US 17 9511492 9511492 single base substitution C T synonymous_variant A280A 840C>T UCEC-US 17 9511493 9511493 single base substitution G A 3_prime_UTR_variant UCEC-US 17 9511493 9511493 single base substitution G A missense_variant G203R 607G>A UCEC-US 17 9511493 9511493 single base substitution G A missense_variant G271R 811G>A UCEC-US 17 9511493 9511493 single base substitution G A missense_variant G281R 841G>A UCEC-US 17 9515758 9515758 single base substitution T A 3_prime_UTR_variant UCEC-US 17 9515758 9515758 single base substitution T A downstream_gene_variant UCEC-US 17 9515758 9515758 single base substitution T A synonymous_variant T261T 783T>A UCEC-US 17 9515758 9515758 single base substitution T A synonymous_variant T329T 987T>A UCEC-US 17 9515758 9515758 single base substitution T A synonymous_variant T339T 1017T>A UCEC-US 17 9515765 9515765 single base substitution T C 3_prime_UTR_variant UCEC-US 17 9515765 9515765 single base substitution T C downstream_gene_variant UCEC-US 17 9515765 9515765 single base substitution T C missense_variant F264L 790T>C UCEC-US 17 9515765 9515765 single base substitution T C missense_variant F332L 994T>C UCEC-US 17 9515765 9515765 single base substitution T C missense_variant F342L 1024T>C UCEC-US 17 9545080 9545080 single base substitution G T 3_prime_UTR_variant UCEC-US 17 9545080 9545080 single base substitution G T downstream_gene_variant UCEC-US 17 9545080 9545080 single base substitution G T intron_variant UCEC-US 17 9545080 9545080 single base substitution G T stop_gained E471* 1411G>T UCEC-US 17 9545080 9545080 single base substitution G T stop_gained E539* 1615G>T UCEC-US 17 9545080 9545080 single base substitution G T stop_gained E549* 1645G>T UCEC-US 17 9546490 9546490 single base substitution G A 3_prime_UTR_variant UCEC-US 17 9546490 9546490 single base substitution G A downstream_gene_variant UCEC-US 17 9546490 9546490 single base substitution G A missense_variant R545Q 1634G>A UCEC-US 17 9546490 9546490 single base substitution G A missense_variant R613Q 1838G>A UCEC-US 17 9546490 9546490 single base substitution G A missense_variant R623Q 1868G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587256 COSM1232552 c.1540G>T p.E514* Substitution - Nonsense 17:9638676-9638676 + TCGA-AP-A056-01 COSM986420 c.407+1G>T p.? Unknown 17:9586835-9586835 + PT21_2 COSM5902009 c.323C>T p.S108F Substitution - Missense 17:9586750-9586750 + TCGA-AT-A5NU-01 COSM4414140 c.582C>A p.I194I Substitution - coding silent 17:9598279-9598279 + TCGA-BR-7851-01 COSM4071171 c.1306G>A p.G436S Substitution - Missense 17:9633019-9633019 + CHC892T COSM4796081 c.651T>C p.D217D Substitution - coding silent 17:9600081-9600081 + HT115 COSM2882837 c.983C>T p.A328V Substitution - Missense 17:9612437-9612437 + 2521260 COSM5891520 c.1318G>A p.E440K Substitution - Missense 17:9633031-9633031 + 93T COSM106617 c.455C>A p.P152H Substitution - Missense 17:9594240-9594240 + TCGA-AX-A064-01 COSM986421 c.810C>T p.A270A Substitution - coding silent 17:9608175-9608175 + TCGA-AK-3430-01 COSM473606 c.717G>A p.L239L Substitution - coding silent 17:9600147-9600147 + CSCC-20-T COSM4451569 c.1289A>T p.K430I Substitution - Missense 17:9633002-9633002 + SNU-175 COSM2882838 c.1077G>A p.W359* Substitution - Nonsense 17:9628723-9628723 + 587234 COSM1232551 c.1475G>A p.R492H Substitution - Missense 17:9638611-9638611 + YULAN COSM1709808 c.1325G>A p.R442K Substitution - Missense 17:9635409-9635409 + CHC689T COSM3668103 c.1489C>G p.Q497E Substitution - Missense 17:9638625-9638625 + TCGA-CG-5719-01 COSM4071159 c.725T>A p.V242D Substitution - Missense 17:9600155-9600155 + BD72T COSM5513263 c.1175-6T>C p.? Unknown 17:9632882-9632882 + COLO678 COSM2882820 c.216C>A p.I72I Substitution - coding silent 17:9585918-9585918 + TCGA-EK-A2RB-01 COSM4820078 c.60C>G p.I20M Substitution - Missense 17:9576755-9576755 + UM-SCC-17B COSM4599078 c.1062G>T p.K354N Substitution - Missense 17:9628708-9628708 + PD4198a COSM219601 c.1575+10C>T p.? Unknown 17:9638721-9638721 + T2417 COSM4740867 c.1152G>A p.R384R Substitution - coding silent 17:9628798-9628798 + PD4100a COSM165556 c.1654G>C p.D552H Substitution - Missense 17:9641802-9641802 + TCGA-AX-A0J0-01 COSM986424 c.994T>C p.F332L Substitution - Missense 17:9612448-9612448 + TCGA-BR-8680-01 COSM4071169 c.1259T>C p.V420A Substitution - Missense 17:9632972-9632972 + TCGA-EE-A2GT-06 COSM3524079 c.166G>A p.E56K Substitution - Missense 17:9585868-9585868 + TCGA-EE-A2GJ-06 COSM3524097 c.1096G>A p.E366K Substitution - Missense 17:9628742-9628742 + T3204 COSM4740859 c.420G>C p.W140C Substitution - Missense 17:9594205-9594205 + TCGA-EJ-5525-01 COSM1130100 c.537T>G p.N179K Substitution - Missense 17:9598234-9598234 + ATL059 COSM5706675 c.173A>G p.N58S Substitution - Missense 17:9585875-9585875 + ESCC-128T COSM3937679 c.612G>A p.L204L Substitution - coding silent 17:9598309-9598309 + TCGA-AZ-4315-01 COSM1387723 c.1561G>A p.G521R Substitution - Missense 17:9638697-9638697 + PD4198a COSM219601 c.1575+10C>T p.? Unknown 17:9638721-9638721 + 2492726 COSM109213 c.918C>T p.L306L Substitution - coding silent 17:9612372-9612372 + 2492721 COSM5722544 c.898G>A p.G300R Substitution - Missense 17:9612352-9612352 + TCGA-B5-A0JY-01 COSM986427 c.1615G>T p.E539* Substitution - Nonsense 17:9641763-9641763 + CHC303T COSM4957854 c.482C>T p.A161V Substitution - Missense 17:9594267-9594267 + CSCC-17-T COSM4469924 c.1628C>T p.S543F Substitution - Missense 17:9641776-9641776 + SJOS006_D COSM5023588 c.442A>G p.I148V Substitution - Missense 17:9594227-9594227 + T3080 COSM4740863 c.629G>A p.S210N Substitution - Missense 17:9598326-9598326 + 2217540 COSM4422120 c.355delT p.S120fs*10 Deletion - Frameshift 17:9586782-9586782 + ESO-179 COSM473606 c.717G>A p.L239L Substitution - coding silent 17:9600147-9600147 + TCGA-D3-A3MR-06 COSM3524081 c.203C>T p.S68F Substitution - Missense 17:9585905-9585905 + MB126PT COSM88082 c.374A>G p.Y125C Substitution - Missense 17:9586801-9586801 + CRC-02T COSM5454637 c.379G>C p.V127L Substitution - Missense 17:9586806-9586806 + PT36 COSM3524079 c.166G>A p.E56K Substitution - Missense 17:9585868-9585868 + CSCC-37-T COSM4558930 c.785G>A p.G262E Substitution - Missense 17:9608150-9608150 + PT15_1 COSM5897967 c.755G>A p.G252E Substitution - Missense 17:9608120-9608120 + TCGA-D1-A16Y-01 COSM986418 c.17C>T p.S6L Substitution - Missense 17:9576712-9576712 + PTC-7C COSM4130902 c.1065T>C p.D355D Substitution - coding silent 17:9628711-9628711 + I2L-P25-Tumor-Organoid COSM5364264 c.141C>A p.V47V Substitution - coding silent 17:9585843-9585843 + 77 COSM5013096 c.608A>C p.Q203P Substitution - Missense 17:9598305-9598305 + HCC122T COSM5808607 c.1421A>T p.E474V Substitution - Missense 17:9635505-9635505 + TCGA-D3-A2JF-06 COSM3524085 c.452G>A p.S151N Substitution - Missense 17:9594237-9594237 + CHC892T COSM4796081 c.651T>C p.D217D Substitution - coding silent 17:9600081-9600081 + HDC101 COSM2882837 c.983C>T p.A328V Substitution - Missense 17:9612437-9612437 + TCGA-BR-A4QL-01 COSM4071155 c.238G>A p.A80T Substitution - Missense 17:9585940-9585940 + TCGA-BR-4292-01 COSM4071163 c.860T>A p.I287N Substitution - Missense 17:9612314-9612314 + TCGA-FS-A4F9-06 COSM3524107 c.1449G>A p.G483G Substitution - coding silent 17:9635533-9635533 + TCGA-EE-A3JD-06 COSM708484 c.1374G>A p.K458K Substitution - coding silent 17:9635458-9635458 + TCGA-EE-A2GJ-06 COSM3524093 c.940A>C p.I314L Substitution - Missense 17:9612394-9612394 + YUJUBE COSM5387782 c.1141G>A p.D381N Substitution - Missense 17:9628787-9628787 + T3024 COSM4740857 c.318G>A p.R106R Substitution - coding silent 17:9586745-9586745 + 77 COSM5013094 c.607C>A p.Q203K Substitution - Missense 17:9598304-9598304 + TCGA-F4-6570-01 COSM1387721 c.975G>A p.T325T Substitution - coding silent 17:9612429-9612429 + ME009T COSM223849 c.986C>T p.T329I Substitution - Missense 17:9612440-9612440 + 2492722 COSM5722544 c.898G>A p.G300R Substitution - Missense 17:9612352-9612352 + PD8615a COSM5796857 c.627G>C p.M209I Substitution - Missense 17:9598324-9598324 + CSCC-59-T COSM4524674 c.1286G>C p.C429S Substitution - Missense 17:9632999-9632999 + ESCC_10 COSM5623835 c.1332G>A p.W444* Substitution - Nonsense 17:9635416-9635416 + TCGA-33-4583-01 COSM708486 c.69T>G p.N23K Substitution - Missense 17:9576764-9576764 + TCGA-BR-4361-01 COSM4071153 c.233A>G p.Y78C Substitution - Missense 17:9585935-9585935 + BD236T COSM5519454 c.875G>T p.G292V Substitution - Missense 17:9612329-9612329 + T2944 COSM4740869 c.1258G>A p.V420I Substitution - Missense 17:9632971-9632971 + RK337_C01 COSM4943495 c.523A>G p.M175V Substitution - Missense 17:9594308-9594308 + 587376 COSM180362 c.1435G>A p.A479T Substitution - Missense 17:9635519-9635519 + YUROL COSM5387778 c.961G>A p.D321N Substitution - Missense 17:9612415-9612415 + TCGA-F1-6874-01 COSM4071175 c.1739C>G p.T580S Substitution - Missense 17:9643074-9643074 + TCGA-CG-4300-01 COSM4071161 c.735G>A p.A245A Substitution - coding silent 17:9600165-9600165 + TCGA-GN-A262-06 COSM3524095 c.1017C>T p.V339V Substitution - coding silent 17:9612471-9612471 + TCGA-D3-A5GO-06 COSM3524103 c.1254C>T p.I418I Substitution - coding silent 17:9632967-9632967 + 548 COSM5612995 c.155T>C p.I52T Substitution - Missense 17:9585857-9585857 + sysucc-627T COSM5468012 c.625A>T p.M209L Substitution - Missense 17:9598322-9598322 + TCGA-23-1032-01 COSM80746 c.1182C>T p.N394N Substitution - coding silent 17:9632895-9632895 + TCGA-DU-8165-01 COSM3970466 c.1721A>G p.Y574C Substitution - Missense 17:9643056-9643056 + 8031133 COSM3388342 c.309G>T p.L103L Substitution - coding silent 17:9586736-9586736 + YUAKER COSM1709809 c.1666G>A p.E556K Substitution - Missense 17:9641814-9641814 + AOCS-095-1-4 COSM4139996 c.352G>A p.A118T Substitution - Missense 17:9586779-9586779 + TCGA-EE-A182-06 COSM3524105 c.1448G>A p.G483E Substitution - Missense 17:9635532-9635532 + TCGA-EB-A430-01 COSM3524101 c.1186G>A p.G396S Substitution - Missense 17:9632899-9632899 + SW1116 COSM4071173 c.1560C>T p.S520S Substitution - coding silent 17:9638696-9638696 + TCGA-IH-A3EA-01 COSM3524099 c.1166T>A p.I389N Substitution - Missense 17:9628812-9628812 + T613 COSM4740865 c.729G>A p.G243G Substitution - coding silent 17:9600159-9600159 + AOCS-095-3-1 COSM4139996 c.352G>A p.A118T Substitution - Missense 17:9586779-9586779 + TCGA-FD-A3B6-01 COSM1303571 c.103G>A p.D35N Substitution - Missense 17:9585805-9585805 + TCGA-18-3409-01 COSM708484 c.1374G>A p.K458K Substitution - coding silent 17:9635458-9635458 + 587376 COSM986427 c.1615G>T p.E539* Substitution - Nonsense 17:9641763-9641763 + TCGA-EE-A2MJ-06 COSM3524083 c.420G>A p.W140* Substitution - Nonsense 17:9594205-9594205 + TCGA-24-1843-01 COSM1324691 c.1353G>A p.Q451Q Substitution - coding silent 17:9635437-9635437 + TCGA-AP-A059-01 COSM986419 c.402C>T p.D134D Substitution - coding silent 17:9586829-9586829 + 91T COSM109213 c.918C>T p.L306L Substitution - coding silent 17:9612372-9612372 + TCGA-AP-A059-01 COSM986423 c.987T>A p.T329T Substitution - coding silent 17:9612441-9612441 + LUAD_E00565 COSM389198 c.1690G>A p.G564R Substitution - Missense 17:9643025-9643025 + YUPAT COSM1709807 c.905G>A p.G302E Substitution - Missense 17:9612359-9612359 + TCGA-AD-6895-01 COSM1387719 c.801C>T p.G267G Substitution - coding silent 17:9608166-9608166 + LUAD-B02594 COSM356461 c.1369C>A p.L457M Substitution - Missense 17:9635453-9635453 + 2492724 COSM109213 c.918C>T p.L306L Substitution - coding silent 17:9612372-9612372 + CSCC-10-T COSM4513905 c.954C>T p.S318S Substitution - coding silent 17:9612408-9612408 + TCGA-EE-A182-06 COSM3524091 c.896G>A p.R299Q Substitution - Missense 17:9612350-9612350 + ESCC_10 COSM5623837 c.1333C>A p.Q445K Substitution - Missense 17:9635417-9635417 + TCGA-CA-6717-01 COSM1387718 c.715C>T p.L239L Substitution - coding silent 17:9600145-9600145 + T2269 COSM4740861 c.583T>C p.W195R Substitution - Missense 17:9598280-9598280 + WA12 COSM242244 c.1229A>G p.Y410C Substitution - Missense 17:9632942-9632942 + TCGA-AM-5820-01 COSM3756064 c.458C>T p.A153V Substitution - Missense 17:9594243-9594243 + TCGA-39-5031-01 COSM708485 c.297G>A p.K99K Substitution - coding silent 17:9586724-9586724 + TCGA-C8-A274-01 COSM1480215 c.646G>A p.D216N Substitution - Missense 17:9600076-9600076 + 587222 COSM986427 c.1615G>T p.E539* Substitution - Nonsense 17:9641763-9641763 + LUAD-E00934 COSM393333 c.553T>C p.W185R Substitution - Missense 17:9598250-9598250 + COLO678 COSM2882836 c.873C>T p.G291G Substitution - coding silent 17:9612327-9612327 + B25-Tumor COSM986419 c.402C>T p.D134D Substitution - coding silent 17:9586829-9586829 + G4 COSM1191667 c.834C>A p.S278R Substitution - Missense 17:9608199-9608199 + Au1 COSM5597887 c.696G>A p.M232I Substitution - Missense 17:9600126-9600126 + BHY COSM4592540 c.1143C>A p.D381E Substitution - Missense 17:9628789-9628789 + pfg127T COSM4749752 c.536+1G>T p.? Unknown 17:9594322-9594322 + TCGA-BR-8589-01 COSM4071173 c.1560C>T p.S520S Substitution - coding silent 17:9638696-9638696 + TCGA-DA-A1HV-06 COSM986428 c.1838G>A p.R613Q Substitution - Missense 17:9643173-9643173 + T3454 COSM4740855 c.317G>A p.R106Q Substitution - Missense 17:9586744-9586744 + GC8_T COSM148192 c.1006G>A p.E336K Substitution - Missense 17:9612460-9612460 + LUAD-NYU284 COSM372838 c.466C>A p.L156I Substitution - Missense 17:9594251-9594251 + TCGA-AP-A056-01 COSM986428 c.1838G>A p.R613Q Substitution - Missense 17:9643173-9643173 + TCGA-GN-A26C-01 COSM3524087 c.855G>A p.K285K Substitution - coding silent 17:9612309-9612309 + 2492725 COSM109213 c.918C>T p.L306L Substitution - coding silent 17:9612372-9612372 + AD12 COSM5966199 c.1783A>G p.I595V Substitution - Missense 17:9643118-9643118 + CSCC-31-T COSM4461303 c.1200C>T p.A400A Substitution - coding silent 17:9632913-9632913 + TCGA-CG-4442-01 COSM4071165 c.981A>G p.I327M Substitution - Missense 17:9612435-9612435 + TCGA-BR-8361-01 COSM4071157 c.647A>G p.D216G Substitution - Missense 17:9600077-9600077 + HN_62686 COSM130191 c.383C>T p.S128L Substitution - Missense 17:9586810-9586810 + LP6005935-DNA_F01 COSM4879735 c.1284C>G p.D428E Substitution - Missense 17:9632997-9632997 + TCGA-AP-A0LM-01 COSM986422 c.811G>A p.G271R Substitution - Missense 17:9608176-9608176 + TCGA-GF-A6C9-06 COSM4900059 c.1447G>A p.G483R Substitution - Missense 17:9635531-9635531 + PD4956a COSM5796514 c.1726G>A p.E576K Substitution - Missense 17:9643061-9643061 + D38 COSM5546548 c.960G>A p.T320T Substitution - coding silent 17:9612414-9612414 + TCGA-AP-A056-01 COSM986427 c.1615G>T p.E539* Substitution - Nonsense 17:9641763-9641763 + 2250243 COSM5029877 c.695T>C p.M232T Substitution - Missense 17:9600125-9600125 + RW7213 COSM4649935 c.1033G>A p.A345T Substitution - Missense 17:9628679-9628679 + TCGA-A6-2670-01 COSM265546 c.936G>A p.S312S Substitution - coding silent 17:9612390-9612390 + TCGA-GU-A42R-01 COSM3796280 c.1634C>T p.S545F Substitution - Missense 17:9641782-9641782 + 2492723 COSM5722544 c.898G>A p.G300R Substitution - Missense 17:9612352-9612352 + TCGA-41-2575-01 COSM3403421 c.1750G>T p.V584L Substitution - Missense 17:9643085-9643085 + CHEWS033 COSM4580301 c.1613G>A p.R538K Substitution - Missense 17:9641761-9641761 + LUAD-RT-S01813 COSM383179 c.818T>A p.L273Q Substitution - Missense 17:9608183-9608183 + TCGA-AD-6889-01 COSM1387720 c.946C>T p.R316C Substitution - Missense 17:9612400-9612400 + CHC303T COSM4957854 c.482C>T p.A161V Substitution - Missense 17:9594267-9594267 + 139 COSM3724164 c.390A>G p.G130G Substitution - coding silent 17:9586817-9586817 + YUKAT COSM5387784 c.1210G>A p.E404K Substitution - Missense 17:9632923-9632923 + TCGA-FW-A3R5-06 COSM3890746 c.984G>A p.A328A Substitution - coding silent 17:9612438-9612438 + CHC361TB COSM3668087 c.1450A>G p.T484A Substitution - Missense 17:9635534-9635534 + 71M COSM5596141 c.1540G>A p.E514K Substitution - Missense 17:9638676-9638676 + B25 COSM986419 c.402C>T p.D134D Substitution - coding silent 17:9586829-9586829 + 990172 COSM1387723 c.1561G>A p.G521R Substitution - Missense 17:9638697-9638697 + TCGA-D3-A1Q6-06 COSM3524091 c.896G>A p.R299Q Substitution - Missense 17:9612350-9612350 + YUNEKI COSM5387780 c.1063G>A p.D355N Substitution - Missense 17:9628709-9628709 + TCGA-D3-A1Q3-06 COSM3524089 c.879C>G p.I293M Substitution - Missense 17:9612333-9612333 + 2492720 COSM5722544 c.898G>A p.G300R Substitution - Missense 17:9612352-9612352 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.232230;Hs.232270 17p13.1 609804

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I314L c.940A>C 17 9515711 CM A C Missense p.I398L c.1192A>C 17 9536222 LUAD A C Missense p.K277N c.831A>C 17 9511513 LUAD - A Frameshift p.F515Vfs*19 c.1541dupA 17 9541994 CM - AG Frameshift p.R101Kfs*30 c.301_302insAG 17 9490045 STAD A G Missense p.Y574C c.1721A>G 17 9546373 LGG A T Missense p.K282I c.845A>T 17 9511527 COREAD C A Missense p.L457M c.1369C>A 17 9538770 LUAD C A Missense p.P617Q c.1850C>A 17 9546502 LUAD C G Missense p.I293M c.879C>G 17 9515650 CM C G Missense p.I356M c.1068C>G 17 9532031 LUAD C G Missense p.P234R c.701C>G 17 9503448 LUAD C G Missense p.S547W c.1640C>G 17 9545105 HNSC C T Missense p.A118V c.353C>T 17 9490097 CM C T Missense p.P190S c.568C>T 17 9501582 LUAD C T Missense p.P341S c.1021C>T 17 9515792 CM C T Missense p.R316C c.946C>T 17 9515717 CM C T Missense p.S128L c.383C>T 17 9490127 HNSC C T Missense p.S363F c.1088C>T 17 9532051 CM C T Missense p.S68F c.203C>T 17 9489222 CM C T Missense p.S6L c.17C>T 17 9480029 UCEC C T Missense p.T329I c.986C>T 17 9515757 CM C T Nonsense p.Q451* c.1351C>T 17 9538752 LUAD C T Synonymous p.A270A c.810C>T 17 9511492 UCEC C T Synonymous p.I370I c.1110C>T 17 9532073 HNSC C T Synonymous p.N394N c.1182C>T 17 9536212 OV C T Synonymous p.V339V c.1017C>T 17 9515788 CM G A IntronicSNV . c.270+318G>A 17 9489607 PIA G A Missense p.D216N c.646G>A 17 9503393 BRCA G A Missense p.D35N c.103G>A 17 9489122 BLCA G A Missense p.E366K c.1096G>A 17 9532059 CM G A Missense p.E56K c.166G>A 17 9489185 CM G A Missense p.G252E c.755G>A 17 9511437 CM G A Missense p.G483E c.1448G>A 17 9538849 CM G A Missense p.G583E c.1748G>A 17 9546400 LUAD G A Missense p.G609E c.1826G>A 17 9546478 CM G A Missense p.G88R c.262G>A 17 9489281 CM G A Missense p.R299Q c.896G>A 17 9515667 CM G A Missense p.R594H c.1781G>A 17 9546433 LGG G A Missense p.R613Q c.1838G>A 17 9546490 CM G A Missense p.S151N c.452G>A 17 9497554 CM G A Nonsense p.W140* c.420G>A 17 9497522 CM G A Synonymous p.A245A c.735G>A 17 9503482 STAD G A Synonymous p.K285K c.855G>A 17 9515626 CM G A Synonymous p.K458K c.1374G>A 17 9538775 CM G A Synonymous p.K99K c.297G>A 17 9490041 LUSC G A Synonymous p.L239L c.717G>A 17 9503464 ESCA G A Synonymous p.S312S c.936G>A 17 9515707 COREAD G C Missense p.D552H c.1654G>C 17 9545119 BRCA G C Missense p.R206T c.617G>C 17 9501631 LUAD G T Missense p.V584L c.1750G>T 17 9546402 GBM T A Missense p.D241E c.723T>A 17 9503470 LUAD T A Missense p.I287N c.860T>A 17 9515631 STAD T A Missense p.I389N c.1166T>A 17 9532129 CM T G Missense p.N179K c.537T>G 17 9501551 PRAD T G Missense p.N23K c.69T>G 17 9480081 LUSC