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 16 597408 597408 + Silent SNP G G C TCGA-OR-A5JP-01A-11D-A29I-10 TCGA-OR-A5JP-10A-01D-A29L-10 g.chr16:597408G>C c.570G>C c.(568-570)ccG>ccC p.P190P ACC 16 597453 597453 + Silent SNP C C T TCGA-OR-A5LP-01A-11D-A29I-10 TCGA-OR-A5LP-10A-01D-A29L-10 g.chr16:597453C>T c.615C>T c.(613-615)ccC>ccT p.P205P ACC 16 597505 597505 + Missense_Mutation SNP G G A TCGA-OR-A5LA-01A-11D-A29I-10 TCGA-OR-A5LA-10A-01D-A29L-10 g.chr16:597505G>A c.667G>A c.(667-669)Gaa>Aaa p.E223K ACC 16 602138 602138 + Silent SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr16:602138G>T c.2433G>T c.(2431-2433)gcG>gcT p.A811A BLCA 16 597101 597101 + Missense_Mutation SNP C C G TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr16:597101C>G c.263C>G c.(262-264)cCc>cGc p.P88R BLCA 16 597450 597450 + Silent SNP C C T TCGA-DK-A6B5-01A-11D-A31L-08 TCGA-DK-A6B5-10A-01D-A31J-08 g.chr16:597450C>T c.612C>T c.(610-612)ctC>ctT p.L204L BLCA 16 597700 597700 + Missense_Mutation SNP G G A TCGA-DK-A6AV-01A-12D-A30E-08 TCGA-DK-A6AV-10A-01D-A30H-08 g.chr16:597700G>A c.862G>A c.(862-864)Gag>Aag p.E288K BLCA 16 597706 597706 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr16:597706C>T c.868C>T c.(868-870)Ctg>Ttg p.L290L BLCA 16 597766 597766 + Missense_Mutation SNP G G A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr16:597766G>A c.928G>A c.(928-930)Gta>Ata p.V310I BLCA 16 601362 601362 + Silent SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 g.chr16:601362G>A c.2127G>A c.(2125-2127)gaG>gaA p.E709E BLCA 16 601635 601635 + Silent SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 g.chr16:601635C>T c.2316C>T c.(2314-2316)gtC>gtT p.V772V BLCA 16 602910 602910 + Silent SNP G G C TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr16:602910G>C c.2952G>C c.(2950-2952)ggG>ggC p.G984G BLCA 16 602999 603001 + In_Frame_Del DEL GCG GCG - TCGA-GU-A764-01A-11D-A34U-08 TCGA-GU-A764-10B-01D-A34X-08 g.chr16:602999_603001delGCG c.3041_3043delGCG c.(3040-3045)cgcggc>cgc p.G1015del BRCA 16 597356 597356 + Missense_Mutation SNP C C T TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 g.chr16:597356C>T c.518C>T c.(517-519)tCg>tTg p.S173L BRCA 16 599131 599131 + Missense_Mutation SNP A A G TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr16:599131A>G c.1588A>G c.(1588-1590)Agg>Ggg p.R530G BRCA 16 599151 599151 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr16:599151C>T c.1608C>T c.(1606-1608)ttC>ttT p.F536F BRCA 16 602903 602903 + Missense_Mutation SNP G G T TCGA-BH-A1FR-01A-11D-A13L-09 TCGA-BH-A1FR-11B-42D-A13O-09 g.chr16:602903G>T c.2945G>T c.(2944-2946)tGg>tTg p.W982L CESC 16 596889 596889 + Silent SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 g.chr16:596889G>T c.51G>T c.(49-51)ccG>ccT p.P17P CESC 16 602965 602965 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 g.chr16:602965G>A c.3007G>A c.(3007-3009)Gac>Aac p.D1003N COAD 16 598026 598026 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr16:598026C>T c.1188C>T c.(1186-1188)tgC>tgT p.C396C COAD 16 599132 599132 + Missense_Mutation SNP G G T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr16:599132G>T c.1589G>T c.(1588-1590)aGg>aTg p.R530M COAD 16 602891 602891 + Missense_Mutation SNP T T C TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr16:602891T>C c.2933T>C c.(2932-2934)cTg>cCg p.L978P COAD 16 603028 603063 + Splice_Site DEL CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC - TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr16:603028_603063delCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC c.3070_3083delCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC c.(3070-3084)ccacccctgcacagg>g p.PPLHR1024del COAD 16 603415 603415 + Missense_Mutation SNP G G A TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr16:603415G>A c.3160G>A c.(3160-3162)Gca>Aca p.A1054T COAD 16 603486 603486 + Silent SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr16:603486C>T c.3231C>T c.(3229-3231)gtC>gtT p.V1077V COADREAD 16 597763 597763 + Missense_Mutation SNP C C A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr16:597763C>A c.925C>A c.(925-927)Cgc>Agc p.R309S COADREAD 16 597984 597984 + Silent SNP C C T TCGA-AH-6644-01A-21D-1826-10 TCGA-AH-6644-10A-01D-1826-10 g.chr16:597984C>T c.1146C>T c.(1144-1146)ccC>ccT p.P382P COADREAD 16 598026 598026 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr16:598026C>T c.1188C>T c.(1186-1188)tgC>tgT p.C396C COADREAD 16 599132 599132 + Missense_Mutation SNP G G T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr16:599132G>T c.1589G>T c.(1588-1590)aGg>aTg p.R530M COADREAD 16 602891 602891 + Missense_Mutation SNP T T C TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr16:602891T>C c.2933T>C c.(2932-2934)cTg>cCg p.L978P COADREAD 16 603028 603063 + Splice_Site DEL CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC - TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr16:603028_603063delCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC c.3070_3083delCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC c.(3070-3084)ccacccctgcacagg>g p.PPLHR1024del COADREAD 16 603415 603415 + Missense_Mutation SNP G G A TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr16:603415G>A c.3160G>A c.(3160-3162)Gca>Aca p.A1054T COADREAD 16 603486 603486 + Silent SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr16:603486C>T c.3231C>T c.(3229-3231)gtC>gtT p.V1077V DLBC 16 602430 602430 + Silent SNP C C T TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr16:602430C>T c.2637C>T c.(2635-2637)ttC>ttT p.F879F DLBC 16 602647 602647 + Missense_Mutation SNP C C T TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr16:602647C>T c.2780C>T c.(2779-2781)cCg>cTg p.P927L ESCA 16 597228 597228 + Silent SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 g.chr16:597228G>A c.390G>A c.(388-390)gaG>gaA p.E130E ESCA 16 597573 597573 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 g.chr16:597573G>A c.735G>A c.(733-735)ccG>ccA p.P245P ESCA 16 597619 597619 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 g.chr16:597619G>A c.781G>A c.(781-783)Gag>Aag p.E261K ESCA 16 597668 597668 + Missense_Mutation SNP G G C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 g.chr16:597668G>C c.830G>C c.(829-831)gGc>gCc p.G277A ESCA 16 598175 598175 + Frame_Shift_Del DEL G G - TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 g.chr16:598175delG c.1337delG c.(1336-1338)cggfs p.R446fs ESCA 16 601640 601640 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr16:601640G>T c.2321G>T c.(2320-2322)tGg>tTg p.W774L ESCA 16 602930 602930 + Missense_Mutation SNP A A G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr16:602930A>G c.2972A>G c.(2971-2973)aAc>aGc p.N991S ESCA 16 603464 603465 + Frame_Shift_Ins INS - - C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr16:603464_603465insC c.3209_3210insC c.(3208-3213)agccccfs p.SP1070fs GBM 16 603459 603459 + Silent SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 g.chr16:603459C>T c.3204C>T c.(3202-3204)acC>acT p.T1068T GBMLGG 16 598068 598068 + Silent SNP C C T TCGA-FG-8191-01A-11D-2253-08 TCGA-FG-8191-10A-01D-2253-08 g.chr16:598068C>T c.1230C>T c.(1228-1230)ccC>ccT p.P410P GBMLGG 16 603459 603459 + Silent SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 g.chr16:603459C>T c.3204C>T c.(3202-3204)acC>acT p.T1068T HNSC 16 596993 596993 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 g.chr16:596993G>A c.155G>A c.(154-156)cGc>cAc p.R52H HNSC 16 597026 597026 + Missense_Mutation SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr16:597026C>T c.188C>T c.(187-189)gCc>gTc p.A63V HNSC 16 597220 597220 + Missense_Mutation SNP G G A TCGA-CQ-7072-01A-21D-A30E-08 TCGA-CQ-7072-10A-01D-A30H-08 g.chr16:597220G>A c.382G>A c.(382-384)Gag>Aag p.E128K HNSC 16 599044 599044 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr16:599044G>A c.1501G>A c.(1501-1503)Ggc>Agc p.G501S HNSC 16 599054 599054 + Missense_Mutation SNP C C T TCGA-CN-A642-01A-12D-A30E-08 TCGA-CN-A642-10A-01D-A30H-08 g.chr16:599054C>T c.1511C>T c.(1510-1512)gCg>gTg p.A504V HNSC 16 599378 599378 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr16:599378C>T c.1749C>T c.(1747-1749)taC>taT p.Y583Y HNSC 16 602492 602492 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 g.chr16:602492A>T c.2699A>T c.(2698-2700)cAc>cTc p.H900L HNSC 16 603390 603390 + Silent SNP C C T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chr16:603390C>T c.3135C>T c.(3133-3135)atC>atT p.I1045I HNSC 16 603477 603477 + Silent SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 g.chr16:603477G>A c.3222G>A c.(3220-3222)acG>acA p.T1074T KIPAN 16 598994 598994 + Splice_Site SNP A A G TCGA-IA-A40Y-01A-11D-A25F-10 TCGA-IA-A40Y-10A-01D-A25F-10 g.chr16:598994A>G c.1451A>G c.(1450-1452)aAc>aGc p.N484S KIPAN 16 599030 599030 + Missense_Mutation SNP G G A TCGA-EV-5903-01A-11D-1589-08 TCGA-EV-5903-10A-01D-1589-08 g.chr16:599030G>A c.1487G>A c.(1486-1488)gGg>gAg p.G496E KIPAN 16 601338 601338 + Missense_Mutation SNP G G A TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr16:601338G>A c.2103G>A c.(2101-2103)atG>atA p.M701I KIPAN 16 603028 603063 + Splice_Site DEL CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC - TCGA-B0-5691-01A-11D-1534-10 TCGA-B0-5691-11A-01D-1534-10 g.chr16:603028_603063delCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC c.3070_3083delCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC c.(3070-3084)ccacccctgcacagg>g p.PPLHR1024del KIPAN 16 603351 603352 + Missense_Mutation DNP GA GA AT TCGA-SX-A7SQ-01A-12D-A35Z-10 TCGA-SX-A7SQ-10A-01D-A35Z-10 g.chr16:603351_603352GA>AT c.3096_3097GA>AT c.(3094-3099)gtGAtc>gtATtc p.I1033F KIRC 16 601338 601338 + Missense_Mutation SNP G G A TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr16:601338G>A c.2103G>A c.(2101-2103)atG>atA p.M701I KIRC 16 603028 603063 + Splice_Site DEL CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC - TCGA-B0-5691-01A-11D-1534-10 TCGA-B0-5691-11A-01D-1534-10 g.chr16:603028_603063delCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC c.3070_3083delCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC c.(3070-3084)ccacccctgcacagg>g p.PPLHR1024del KIRP 16 598994 598994 + Splice_Site SNP A A G TCGA-IA-A40Y-01A-11D-A25F-10 TCGA-IA-A40Y-10A-01D-A25F-10 g.chr16:598994A>G c.1451A>G c.(1450-1452)aAc>aGc p.N484S KIRP 16 599030 599030 + Missense_Mutation SNP G G A TCGA-EV-5903-01A-11D-1589-08 TCGA-EV-5903-10A-01D-1589-08 g.chr16:599030G>A c.1487G>A c.(1486-1488)gGg>gAg p.G496E KIRP 16 603351 603352 + Missense_Mutation DNP GA GA AT TCGA-SX-A7SQ-01A-12D-A35Z-10 TCGA-SX-A7SQ-10A-01D-A35Z-10 g.chr16:603351_603352GA>AT c.3096_3097GA>AT c.(3094-3099)gtGAtc>gtATtc p.I1033F LGG 16 598068 598068 + Silent SNP C C T TCGA-FG-8191-01A-11D-2253-08 TCGA-FG-8191-10A-01D-2253-08 g.chr16:598068C>T c.1230C>T c.(1228-1230)ccC>ccT p.P410P LIHC 16 597393 597394 + Nonsense_Mutation DNP GG GG AT TCGA-DD-AACV-01A-11D-A40R-10 TCGA-DD-AACV-10A-01D-A40U-10 g.chr16:597393_597394GG>AT c.555_556GG>AT c.(553-558)ccGGaa>ccATaa p.E186* LIHC 16 599102 599102 + Missense_Mutation SNP A A G TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr16:599102A>G c.1559A>G c.(1558-1560)gAg>gGg p.E520G LIHC 16 599385 599385 + Missense_Mutation SNP C C T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr16:599385C>T c.1756C>T c.(1756-1758)Cgg>Tgg p.R586W LIHC 16 601376 601376 + Missense_Mutation SNP G G A TCGA-CC-A1HT-01A-11D-A12Z-10 TCGA-CC-A1HT-10A-01D-A12Z-10 g.chr16:601376G>A c.2141G>A c.(2140-2142)cGc>cAc p.R714H LIHC 16 601629 601629 + Missense_Mutation SNP G G C TCGA-DD-AAD0-01A-11D-A40R-10 TCGA-DD-AAD0-10A-01D-A40U-10 g.chr16:601629G>C c.2310G>C c.(2308-2310)gaG>gaC p.E770D LUAD 16 597209 597214 + In_Frame_Del DEL AGGACA AGGACA - TCGA-97-8177-01A-11D-2284-08 TCGA-97-8177-10A-01D-2284-08 g.chr16:597209_597214delAGGACA c.371_376delAGGACA c.(370-378)gaggacaag>gag p.DK125del LUAD 16 597502 597502 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr16:597502G>T c.664G>T c.(664-666)Gcc>Tcc p.A222S LUAD 16 599091 599098 + Frame_Shift_Del DEL GCGACCCC GCGACCCC - TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr16:599091_599098delGCGACCCC c.1548_1555delGCGACCCC c.(1546-1557)ctgcgaccccagfs p.RPQ517fs LUAD 16 599442 599442 + Missense_Mutation SNP G G A TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr16:599442G>A c.1813G>A c.(1813-1815)Gat>Aat p.D605N LUAD 16 599685 599685 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chr16:599685C>A c.1913C>A c.(1912-1914)gCg>gAg p.A638E LUAD 16 599730 599730 + Missense_Mutation SNP G G T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr16:599730G>T c.1958G>T c.(1957-1959)gGc>gTc p.G653V LUAD 16 601521 601521 + Silent SNP G G T TCGA-55-8510-01A-11D-2393-08 TCGA-55-8510-10A-01D-2393-08 g.chr16:601521G>T c.2202G>T c.(2200-2202)cgG>cgT p.R734R LUAD 16 601602 601602 + Silent SNP C C T TCGA-75-7025-01A-12D-1945-08 TCGA-75-7025-10A-01D-1946-08 g.chr16:601602C>T c.2283C>T c.(2281-2283)ggC>ggT p.G761G LUAD 16 601625 601625 + Missense_Mutation SNP G G A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 g.chr16:601625G>A c.2306G>A c.(2305-2307)aGt>aAt p.S769N LUAD 16 602998 602998 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr16:602998C>T c.3040C>T c.(3040-3042)Cgc>Tgc p.R1014C LUSC 16 597775 597775 + Missense_Mutation SNP G G A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 g.chr16:597775G>A c.937G>A c.(937-939)Ggc>Agc p.G313S LUSC 16 601555 601555 + Missense_Mutation SNP G G A TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr16:601555G>A c.2236G>A c.(2236-2238)Ggc>Agc p.G746S LUSC 16 601631 601631 + Missense_Mutation SNP G G A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr16:601631G>A c.2312G>A c.(2311-2313)gGt>gAt p.G771D LUSC 16 603040 603040 + Splice_Site SNP A A T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 g.chr16:603040A>T c.3082A>T c.(3082-3084)Agg>Tgg p.R1028W LUSC 16 603410 603410 + Missense_Mutation SNP G G A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 g.chr16:603410G>A c.3155G>A c.(3154-3156)cGc>cAc p.R1052H PAAD 16 598072 598072 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:598072C>T c.1234C>T c.(1234-1236)Cgc>Tgc p.R412C PAAD 16 599006 599006 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:599006T>G c.1463T>G c.(1462-1464)tTc>tGc p.F488C PAAD 16 599309 599309 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:599309G>A c.1680G>A c.(1678-1680)gtG>gtA p.V560V PAAD 16 601376 601376 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:601376G>A c.2141G>A c.(2140-2142)cGc>cAc p.R714H PAAD 16 601540 601540 + Missense_Mutation SNP C C T TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 g.chr16:601540C>T c.2221C>T c.(2221-2223)Cgt>Tgt p.R741C PAAD 16 602440 602440 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:602440G>A c.2647G>A c.(2647-2649)Gac>Aac p.D883N PRAD 16 602413 602413 + Missense_Mutation SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr16:602413C>T c.2620C>T c.(2620-2622)Cgc>Tgc p.R874C PRAD 16 602481 602481 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:602481C>T c.2688C>T c.(2686-2688)tgC>tgT p.C896C PRAD 16 602648 602648 + Frame_Shift_Del DEL G G - TCGA-HC-A6AL-01A-11D-A30E-08 TCGA-HC-A6AL-10A-01D-A30H-08 g.chr16:602648delG c.2781delG c.(2779-2781)ccgfs p.P928fs PRAD 16 603374 603374 + Missense_Mutation SNP A A G TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 g.chr16:603374A>G c.3119A>G c.(3118-3120)aAc>aGc p.N1040S READ 16 597763 597763 + Missense_Mutation SNP C C A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr16:597763C>A c.925C>A c.(925-927)Cgc>Agc p.R309S READ 16 597984 597984 + Silent SNP C C T TCGA-AH-6644-01A-21D-1826-10 TCGA-AH-6644-10A-01D-1826-10 g.chr16:597984C>T c.1146C>T c.(1144-1146)ccC>ccT p.P382P SARC 16 597434 597434 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr16:597434C>T c.596C>T c.(595-597)gCg>gTg p.A199V SKCM 16 596994 596994 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr16:596994C>T c.156C>T c.(154-156)cgC>cgT p.R52R SKCM 16 597450 597450 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr16:597450C>T c.612C>T c.(610-612)ctC>ctT p.L204L SKCM 16 597451 597451 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr16:597451C>T c.613C>T c.(613-615)Ccc>Tcc p.P205S SKCM 16 597478 597478 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr16:597478C>T c.640C>T c.(640-642)Cca>Tca p.P214S SKCM 16 597479 597479 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr16:597479C>T c.641C>T c.(640-642)cCa>cTa p.P214L SKCM 16 597654 597654 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr16:597654G>A c.816G>A c.(814-816)agG>agA p.R272R SKCM 16 597758 597758 + Missense_Mutation SNP C C G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr16:597758C>G c.920C>G c.(919-921)aCc>aGc p.T307S SKCM 16 598008 598008 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:598008C>T c.1170C>T c.(1168-1170)agC>agT p.S390S SKCM 16 601380 601380 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:601380C>T c.2145C>T c.(2143-2145)ccC>ccT p.P715P SKCM 16 601394 601394 + Missense_Mutation SNP C C T TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr16:601394C>T c.2159C>T c.(2158-2160)tCc>tTc p.S720F SKCM 16 601394 601394 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:601394C>T c.2159C>T c.(2158-2160)tCc>tTc p.S720F SKCM 16 601531 601531 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr16:601531C>T c.2212C>T c.(2212-2214)Ccg>Tcg p.P738S SKCM 16 601532 601532 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr16:601532C>T c.2213C>T c.(2212-2214)cCg>cTg p.P738L SKCM 16 602523 602523 + Silent SNP C C T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr16:602523C>T c.2730C>T c.(2728-2730)gcC>gcT p.A910A SKCM 16 602524 602524 + Missense_Mutation SNP C C T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr16:602524C>T c.2731C>T c.(2731-2733)Ccc>Tcc p.P911S

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 16 599058 599058 single base substitution T G downstream_gene_variant BLCA-CN 16 599058 599058 single base substitution T G synonymous_variant G505G 1515T>G BLCA-CN 16 599058 599058 single base substitution T G upstream_gene_variant BLCA-CN 16 601618 601618 single base substitution G A downstream_gene_variant BLCA-CN 16 601618 601618 single base substitution G A missense_variant G767S 2299G>A BLCA-CN 16 601618 601618 single base substitution G A upstream_gene_variant BLCA-US 16 601635 601635 single base substitution C T downstream_gene_variant BLCA-US 16 601635 601635 single base substitution C T synonymous_variant V772V 2316C>T BLCA-US 16 601635 601635 single base substitution C T upstream_gene_variant BOCA-FR 16 606718 606718 single base substitution G A downstream_gene_variant BRCA-EU 16 572793 572793 single base substitution C G upstream_gene_variant BRCA-EU 16 573106 573106 single base substitution C T upstream_gene_variant BRCA-EU 16 573131 573131 single base substitution G A upstream_gene_variant BRCA-EU 16 574187 574187 single base substitution G C upstream_gene_variant BRCA-EU 16 576976 576976 single base substitution C T upstream_gene_variant BRCA-EU 16 577155 577155 single base substitution G A upstream_gene_variant BRCA-EU 16 578883 578883 single base substitution G A intron_variant BRCA-EU 16 580101 580101 single base substitution C G intron_variant BRCA-EU 16 580408 580408 single base substitution G A intron_variant BRCA-EU 16 580477 580477 single base substitution C T intron_variant BRCA-EU 16 581677 581677 single base substitution G A intron_variant BRCA-EU 16 585644 585644 single base substitution C T intron_variant BRCA-EU 16 585644 585644 single base substitution C T upstream_gene_variant BRCA-EU 16 586855 586855 single base substitution G T intron_variant BRCA-EU 16 586855 586855 single base substitution G T upstream_gene_variant BRCA-EU 16 587741 587741 single base substitution C T downstream_gene_variant BRCA-EU 16 587741 587741 single base substitution C T exon_variant BRCA-EU 16 587741 587741 single base substitution C T intron_variant BRCA-EU 16 589577 589577 single base substitution C T downstream_gene_variant BRCA-EU 16 589577 589577 single base substitution C T exon_variant BRCA-EU 16 589577 589577 single base substitution C T intron_variant BRCA-EU 16 589591 589591 single base substitution C A downstream_gene_variant BRCA-EU 16 589591 589591 single base substitution C A exon_variant BRCA-EU 16 589591 589591 single base substitution C A intron_variant BRCA-EU 16 590368 590368 single base substitution G A downstream_gene_variant BRCA-EU 16 590368 590368 single base substitution G A intron_variant BRCA-EU 16 591086 591086 single base substitution G T downstream_gene_variant BRCA-EU 16 591086 591086 single base substitution G T intron_variant BRCA-EU 16 591178 591178 single base substitution C G downstream_gene_variant BRCA-EU 16 591178 591178 single base substitution C G intron_variant BRCA-EU 16 594219 594219 single base substitution C G downstream_gene_variant BRCA-EU 16 594219 594219 single base substitution C G intron_variant BRCA-EU 16 595167 595167 single base substitution C T intron_variant BRCA-EU 16 595424 595424 single base substitution C T intron_variant BRCA-EU 16 595732 595732 single base substitution G T intron_variant BRCA-EU 16 595944 595944 single base substitution G A intron_variant BRCA-EU 16 597750 597750 single base substitution G C 5_prime_UTR_variant BRCA-EU 16 597750 597750 single base substitution G C downstream_gene_variant BRCA-EU 16 597750 597750 single base substitution G C missense_variant E304D 912G>C BRCA-EU 16 597750 597750 single base substitution G C upstream_gene_variant BRCA-EU 16 598663 598663 single base substitution G T downstream_gene_variant BRCA-EU 16 598663 598663 single base substitution G T intron_variant BRCA-EU 16 598663 598663 single base substitution G T upstream_gene_variant BRCA-EU 16 605541 605541 single base substitution C T downstream_gene_variant BRCA-EU 16 605688 605688 single base substitution C T downstream_gene_variant BRCA-EU 16 605959 605959 single base substitution G A downstream_gene_variant BRCA-EU 16 606314 606314 single base substitution C T downstream_gene_variant BRCA-EU 16 607928 607928 single base substitution C T downstream_gene_variant BRCA-EU 16 608173 608173 single base substitution C T downstream_gene_variant BRCA-EU 16 608419 608419 single base substitution A G downstream_gene_variant BRCA-EU 16 609418 609418 single base substitution G T downstream_gene_variant BRCA-FR 16 576976 576976 single base substitution C T upstream_gene_variant BRCA-FR 16 577155 577155 single base substitution G A upstream_gene_variant BRCA-FR 16 578005 578005 single base substitution G A 5_prime_UTR_variant BRCA-FR 16 578005 578005 single base substitution G A exon_variant BRCA-FR 16 587097 587097 single base substitution C T intron_variant BRCA-FR 16 587741 587741 single base substitution C T downstream_gene_variant BRCA-FR 16 587741 587741 single base substitution C T exon_variant BRCA-FR 16 587741 587741 single base substitution C T intron_variant BRCA-FR 16 595944 595944 single base substitution G A intron_variant BRCA-UK 16 603459 603459 single base substitution C T exon_variant BRCA-UK 16 603459 603459 single base substitution C T intron_variant BRCA-UK 16 603459 603459 single base substitution C T synonymous_variant T1068T 3204C>T BRCA-US 16 597208 597208 single base substitution G T intron_variant BRCA-US 16 597208 597208 single base substitution G T stop_gained E124* 370G>T BRCA-US 16 597356 597356 single base substitution C T intron_variant BRCA-US 16 597356 597356 single base substitution C T missense_variant S173L 518C>T BRCA-US 16 597356 597356 single base substitution C T upstream_gene_variant BRCA-US 16 599131 599131 single base substitution A G downstream_gene_variant BRCA-US 16 599131 599131 single base substitution A G missense_variant R530G 1588A>G BRCA-US 16 599131 599131 single base substitution A G upstream_gene_variant BRCA-US 16 599151 599151 single base substitution C T downstream_gene_variant BRCA-US 16 599151 599151 single base substitution C T synonymous_variant F536F 1608C>T BRCA-US 16 599151 599151 single base substitution C T upstream_gene_variant BRCA-US 16 602903 602903 single base substitution G T downstream_gene_variant BRCA-US 16 602903 602903 single base substitution G T exon_variant BRCA-US 16 602903 602903 single base substitution G T missense_variant W19L 56G>T BRCA-US 16 602903 602903 single base substitution G T missense_variant W982L 2945G>T BTCA-JP 16 596965 596965 single base substitution G A intron_variant BTCA-JP 16 596965 596965 single base substitution G A missense_variant V43M 127G>A BTCA-JP 16 597421 597421 single base substitution G A downstream_gene_variant BTCA-JP 16 597421 597421 single base substitution G A intron_variant BTCA-JP 16 597421 597421 single base substitution G A missense_variant V195I 583G>A BTCA-JP 16 597421 597421 single base substitution G A upstream_gene_variant BTCA-JP 16 597793 597793 single base substitution A G 5_prime_UTR_variant BTCA-JP 16 597793 597793 single base substitution A G downstream_gene_variant BTCA-JP 16 597793 597793 single base substitution A G missense_variant S319G 955A>G BTCA-JP 16 597793 597793 single base substitution A G upstream_gene_variant BTCA-JP 16 601892 601892 single base substitution T C downstream_gene_variant BTCA-JP 16 601892 601892 single base substitution T C intron_variant BTCA-JP 16 601892 601892 single base substitution T C upstream_gene_variant BTCA-JP 16 602217 602217 single base substitution G T downstream_gene_variant BTCA-JP 16 602217 602217 single base substitution G T splice_region_variant BTCA-JP 16 602217 602217 single base substitution G T upstream_gene_variant BTCA-JP 16 602218 602218 single base substitution T A downstream_gene_variant BTCA-JP 16 602218 602218 single base substitution T A splice_region_variant BTCA-JP 16 602218 602218 single base substitution T A upstream_gene_variant BTCA-JP 16 602462 602462 single base substitution A T downstream_gene_variant BTCA-JP 16 602462 602462 single base substitution A T exon_variant BTCA-JP 16 602462 602462 single base substitution A T missense_variant E890V 2669A>T BTCA-JP 16 602462 602462 single base substitution A T upstream_gene_variant BTCA-JP 16 602636 602636 single base substitution C G downstream_gene_variant BTCA-JP 16 602636 602636 single base substitution C G exon_variant BTCA-JP 16 602636 602636 single base substitution C G synonymous_variant A923A 2769C>G BTCA-JP 16 602636 602636 single base substitution C G upstream_gene_variant CESC-US 16 596889 596889 single base substitution G T intron_variant CESC-US 16 596889 596889 single base substitution G T synonymous_variant P17P 51G>T CESC-US 16 602965 602965 single base substitution G A downstream_gene_variant CESC-US 16 602965 602965 single base substitution G A exon_variant CESC-US 16 602965 602965 single base substitution G A missense_variant D1003N 3007G>A CESC-US 16 602965 602965 single base substitution G A missense_variant D40N 118G>A CLLE-ES 16 593547 593547 single base substitution G A downstream_gene_variant CLLE-ES 16 593547 593547 single base substitution G A intron_variant CLLE-ES 16 601057 601057 single base substitution C G downstream_gene_variant CLLE-ES 16 601057 601057 single base substitution C G intron_variant CLLE-ES 16 601057 601057 single base substitution C G upstream_gene_variant CLLE-ES 16 603176 603176 single base substitution C T downstream_gene_variant CLLE-ES 16 603176 603176 single base substitution C T intron_variant COAD-US 16 597250 597250 single base substitution G A intron_variant COAD-US 16 597250 597250 single base substitution G A missense_variant E138K 412G>A COAD-US 16 598026 598026 single base substitution C T downstream_gene_variant COAD-US 16 598026 598026 single base substitution C T missense_variant R52W 154C>T COAD-US 16 598026 598026 single base substitution C T synonymous_variant C396C 1188C>T COAD-US 16 598026 598026 single base substitution C T upstream_gene_variant COAD-US 16 599132 599132 single base substitution G T downstream_gene_variant COAD-US 16 599132 599132 single base substitution G T missense_variant R530M 1589G>T COAD-US 16 599132 599132 single base substitution G T upstream_gene_variant COAD-US 16 601632 601632 single base substitution T C downstream_gene_variant COAD-US 16 601632 601632 single base substitution T C synonymous_variant G771G 2313T>C COAD-US 16 601632 601632 single base substitution T C upstream_gene_variant COAD-US 16 602313 602313 single base substitution C A downstream_gene_variant COAD-US 16 602313 602313 single base substitution C A exon_variant COAD-US 16 602313 602313 single base substitution C A synonymous_variant A840A 2520C>A COAD-US 16 602313 602313 single base substitution C A upstream_gene_variant COAD-US 16 602502 602502 single base substitution G T downstream_gene_variant COAD-US 16 602502 602502 single base substitution G T exon_variant COAD-US 16 602502 602502 single base substitution G T synonymous_variant P903P 2709G>T COAD-US 16 602502 602502 single base substitution G T upstream_gene_variant COAD-US 16 602511 602511 single base substitution G C downstream_gene_variant COAD-US 16 602511 602511 single base substitution G C exon_variant COAD-US 16 602511 602511 single base substitution G C synonymous_variant P906P 2718G>C COAD-US 16 602511 602511 single base substitution G C upstream_gene_variant COAD-US 16 603415 603415 single base substitution G A exon_variant COAD-US 16 603415 603415 single base substitution G A intron_variant COAD-US 16 603415 603415 single base substitution G A missense_variant A1054T 3160G>A COAD-US 16 603486 603486 single base substitution C T exon_variant COAD-US 16 603486 603486 single base substitution C T intron_variant COAD-US 16 603486 603486 single base substitution C T synonymous_variant V1077V 3231C>T COCA-CN 16 601228 601228 single base substitution A G downstream_gene_variant COCA-CN 16 601228 601228 single base substitution A G intron_variant COCA-CN 16 601228 601228 single base substitution A G upstream_gene_variant COCA-CN 16 601241 601241 single base substitution G T downstream_gene_variant COCA-CN 16 601241 601241 single base substitution G T intron_variant COCA-CN 16 601241 601241 single base substitution G T upstream_gene_variant COCA-CN 16 601258 601258 single base substitution T G downstream_gene_variant COCA-CN 16 601258 601258 single base substitution T G intron_variant COCA-CN 16 601258 601258 single base substitution T G upstream_gene_variant COCA-CN 16 601723 601723 single base substitution C A downstream_gene_variant COCA-CN 16 601723 601723 single base substitution C A intron_variant COCA-CN 16 601723 601723 single base substitution C A upstream_gene_variant COCA-CN 16 601892 601892 single base substitution T C downstream_gene_variant COCA-CN 16 601892 601892 single base substitution T C intron_variant COCA-CN 16 601892 601892 single base substitution T C upstream_gene_variant COCA-CN 16 602063 602063 single base substitution C T downstream_gene_variant COCA-CN 16 602063 602063 single base substitution C T synonymous_variant S786S 2358C>T COCA-CN 16 602063 602063 single base substitution C T upstream_gene_variant COCA-CN 16 602298 602298 single base substitution C T downstream_gene_variant COCA-CN 16 602298 602298 single base substitution C T exon_variant COCA-CN 16 602298 602298 single base substitution C T splice_region_variant COCA-CN 16 602298 602298 single base substitution C T upstream_gene_variant COCA-CN 16 602398 602398 single base substitution C G downstream_gene_variant COCA-CN 16 602398 602398 single base substitution C G exon_variant COCA-CN 16 602398 602398 single base substitution C G missense_variant L869V 2605C>G COCA-CN 16 602398 602398 single base substitution C G upstream_gene_variant COCA-CN 16 603506 603506 single base substitution G A exon_variant COCA-CN 16 603506 603506 single base substitution G A intron_variant COCA-CN 16 603506 603506 single base substitution G A missense_variant R1084Q 3251G>A COCA-CN 16 604656 604656 single base substitution T C downstream_gene_variant COCA-CN 16 604803 604803 single base substitution G A downstream_gene_variant EOPC-DE 16 574773 574773 single base substitution G T upstream_gene_variant EOPC-DE 16 581447 581447 single base substitution A C intron_variant EOPC-DE 16 601129 601129 single base substitution T C downstream_gene_variant EOPC-DE 16 601129 601129 single base substitution T C intron_variant EOPC-DE 16 601129 601129 single base substitution T C upstream_gene_variant ESAD-UK 16 573287 573287 single base substitution T A upstream_gene_variant ESAD-UK 16 573336 573336 single base substitution A T upstream_gene_variant ESAD-UK 16 573443 573443 single base substitution G A upstream_gene_variant ESAD-UK 16 573862 573862 single base substitution G A upstream_gene_variant ESAD-UK 16 574050 574050 single base substitution G T upstream_gene_variant ESAD-UK 16 579049 579049 single base substitution G A intron_variant ESAD-UK 16 580315 580315 deletion of <=200bp T - intron_variant ESAD-UK 16 580317 580317 single base substitution T A intron_variant ESAD-UK 16 581113 581113 single base substitution G A intron_variant ESAD-UK 16 583739 583739 single base substitution C G intron_variant ESAD-UK 16 583739 583739 single base substitution C G upstream_gene_variant ESAD-UK 16 584233 584233 single base substitution G A intron_variant ESAD-UK 16 584233 584233 single base substitution G A upstream_gene_variant ESAD-UK 16 586288 586288 single base substitution G A intron_variant ESAD-UK 16 586288 586288 single base substitution G A upstream_gene_variant ESAD-UK 16 586783 586783 single base substitution G A intron_variant ESAD-UK 16 586783 586783 single base substitution G A upstream_gene_variant ESAD-UK 16 590205 590205 single base substitution T A downstream_gene_variant ESAD-UK 16 590205 590205 single base substitution T A intron_variant ESAD-UK 16 590759 590759 single base substitution G A downstream_gene_variant ESAD-UK 16 590759 590759 single base substitution G A intron_variant ESAD-UK 16 592365 592365 single base substitution C T downstream_gene_variant ESAD-UK 16 592365 592365 single base substitution C T intron_variant ESAD-UK 16 594588 594588 single base substitution G A downstream_gene_variant ESAD-UK 16 594588 594588 single base substitution G A intron_variant ESAD-UK 16 594607 594607 single base substitution G A downstream_gene_variant ESAD-UK 16 594607 594607 single base substitution G A intron_variant ESAD-UK 16 596344 596344 deletion of <=200bp G - intron_variant ESAD-UK 16 597246 597246 single base substitution G A intron_variant ESAD-UK 16 597246 597246 single base substitution G A synonymous_variant E136E 408G>A ESAD-UK 16 598303 598303 single base substitution G T downstream_gene_variant ESAD-UK 16 598303 598303 single base substitution G T intron_variant ESAD-UK 16 598303 598303 single base substitution G T upstream_gene_variant ESAD-UK 16 601614 601614 single base substitution G A downstream_gene_variant ESAD-UK 16 601614 601614 single base substitution G A synonymous_variant P765P 2295G>A ESAD-UK 16 601614 601614 single base substitution G A upstream_gene_variant ESAD-UK 16 604867 604867 insertion of <=200bp - TGCGG downstream_gene_variant ESAD-UK 16 604916 604916 single base substitution C T downstream_gene_variant ESAD-UK 16 605666 605666 deletion of <=200bp G - downstream_gene_variant ESAD-UK 16 605718 605718 single base substitution G A downstream_gene_variant ESAD-UK 16 607738 607738 single base substitution C T downstream_gene_variant ESCA-CN 16 599065 599065 single base substitution G T downstream_gene_variant ESCA-CN 16 599065 599065 single base substitution G T missense_variant V508L 1522G>T ESCA-CN 16 599065 599065 single base substitution G T upstream_gene_variant ESCA-CN 16 599401 599401 single base substitution G T downstream_gene_variant ESCA-CN 16 599401 599401 single base substitution G T missense_variant G591V 1772G>T ESCA-CN 16 599401 599401 single base substitution G T upstream_gene_variant ESCA-CN 16 601024 601024 single base substitution C T downstream_gene_variant ESCA-CN 16 601024 601024 single base substitution C T intron_variant ESCA-CN 16 601024 601024 single base substitution C T upstream_gene_variant GBM-US 16 601614 601614 single base substitution G A downstream_gene_variant GBM-US 16 601614 601614 single base substitution G A synonymous_variant P765P 2295G>A GBM-US 16 601614 601614 single base substitution G A upstream_gene_variant GBM-US 16 603459 603459 single base substitution C T exon_variant GBM-US 16 603459 603459 single base substitution C T intron_variant GBM-US 16 603459 603459 single base substitution C T synonymous_variant T1068T 3204C>T KIRC-US 16 601338 601338 single base substitution G A downstream_gene_variant KIRC-US 16 601338 601338 single base substitution G A missense_variant M701I 2103G>A KIRC-US 16 601338 601338 single base substitution G A upstream_gene_variant KIRC-US 16 603028 603063 deletion of <=200bp CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC - downstream_gene_variant KIRC-US 16 603028 603063 deletion of <=200bp CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC - frameshift_variant PPLHR1024 KIRC-US 16 603028 603063 deletion of <=200bp CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC - frameshift_variant PPLHS61 KIRC-US 16 603028 603063 deletion of <=200bp CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC - splice_donor_variant KIRP-US 16 598994 598994 single base substitution A G downstream_gene_variant KIRP-US 16 598994 598994 single base substitution A G missense_variant N484S 1451A>G KIRP-US 16 598994 598994 single base substitution A G upstream_gene_variant KIRP-US 16 599030 599030 single base substitution G A downstream_gene_variant KIRP-US 16 599030 599030 single base substitution G A missense_variant G496E 1487G>A KIRP-US 16 599030 599030 single base substitution G A upstream_gene_variant LAML-KR 16 574741 574741 single base substitution T G upstream_gene_variant LAML-KR 16 574868 574868 single base substitution T G upstream_gene_variant LAML-KR 16 581668 581668 single base substitution C T intron_variant LAML-KR 16 582400 582400 single base substitution C A intron_variant LAML-KR 16 582400 582400 single base substitution C A upstream_gene_variant LAML-KR 16 594805 594805 single base substitution A C downstream_gene_variant LAML-KR 16 594805 594805 single base substitution A C intron_variant LAML-KR 16 600798 600798 single base substitution G C downstream_gene_variant LAML-KR 16 600798 600798 single base substitution G C intron_variant LAML-KR 16 600798 600798 single base substitution G C upstream_gene_variant LAML-KR 16 600802 600802 single base substitution G A downstream_gene_variant LAML-KR 16 600802 600802 single base substitution G A intron_variant LAML-KR 16 600802 600802 single base substitution G A upstream_gene_variant LAML-KR 16 600810 600810 single base substitution C T downstream_gene_variant LAML-KR 16 600810 600810 single base substitution C T intron_variant LAML-KR 16 600810 600810 single base substitution C T upstream_gene_variant LAML-KR 16 601056 601056 single base substitution T C downstream_gene_variant LAML-KR 16 601056 601056 single base substitution T C intron_variant LAML-KR 16 601056 601056 single base substitution T C upstream_gene_variant LAML-KR 16 601632 601632 single base substitution T C downstream_gene_variant LAML-KR 16 601632 601632 single base substitution T C synonymous_variant G771G 2313T>C LAML-KR 16 601632 601632 single base substitution T C upstream_gene_variant LGG-US 16 598068 598068 single base substitution C T downstream_gene_variant LGG-US 16 598068 598068 single base substitution C T stop_gained R66* 196C>T LGG-US 16 598068 598068 single base substitution C T synonymous_variant P410P 1230C>T LGG-US 16 598068 598068 single base substitution C T upstream_gene_variant LICA-CN 16 599693 599693 single base substitution G T downstream_gene_variant LICA-CN 16 599693 599693 single base substitution G T missense_variant A641S 1921G>T LICA-CN 16 599693 599693 single base substitution G T upstream_gene_variant LICA-FR 16 597059 597059 single base substitution C T intron_variant LICA-FR 16 597059 597059 single base substitution C T missense_variant A74V 221C>T LICA-FR 16 597229 597229 single base substitution A G intron_variant LICA-FR 16 597229 597229 single base substitution A G missense_variant K131E 391A>G LICA-FR 16 597691 597691 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 16 597691 597691 single base substitution C T downstream_gene_variant LICA-FR 16 597691 597691 single base substitution C T missense_variant R285C 853C>T LICA-FR 16 597691 597691 single base substitution C T upstream_gene_variant LICA-FR 16 597780 597780 single base substitution C A 5_prime_UTR_variant LICA-FR 16 597780 597780 single base substitution C A downstream_gene_variant LICA-FR 16 597780 597780 single base substitution C A missense_variant S314R 942C>A LICA-FR 16 597780 597780 single base substitution C A upstream_gene_variant LICA-FR 16 600843 600843 single base substitution C T downstream_gene_variant LICA-FR 16 600843 600843 single base substitution C T intron_variant LICA-FR 16 600843 600843 single base substitution C T upstream_gene_variant LICA-FR 16 602436 602436 single base substitution C A downstream_gene_variant LICA-FR 16 602436 602436 single base substitution C A exon_variant LICA-FR 16 602436 602436 single base substitution C A missense_variant S881R 2643C>A LICA-FR 16 602436 602436 single base substitution C A upstream_gene_variant LICA-FR 16 602648 602648 single base substitution G A downstream_gene_variant LICA-FR 16 602648 602648 single base substitution G A exon_variant LICA-FR 16 602648 602648 single base substitution G A synonymous_variant P927P 2781G>A LICA-FR 16 602648 602648 single base substitution G A upstream_gene_variant LICA-FR 16 602925 602925 single base substitution G T downstream_gene_variant LICA-FR 16 602925 602925 single base substitution G T exon_variant LICA-FR 16 602925 602925 single base substitution G T synonymous_variant V26V 78G>T LICA-FR 16 602925 602925 single base substitution G T synonymous_variant V989V 2967G>T LICA-FR 16 602926 602926 single base substitution G T downstream_gene_variant LICA-FR 16 602926 602926 single base substitution G T exon_variant LICA-FR 16 602926 602926 single base substitution G T stop_gained E27* 79G>T LICA-FR 16 602926 602926 single base substitution G T stop_gained E990* 2968G>T LIHC-US 16 601376 601376 single base substitution G A downstream_gene_variant LIHC-US 16 601376 601376 single base substitution G A missense_variant R714H 2141G>A LIHC-US 16 601376 601376 single base substitution G A upstream_gene_variant LINC-JP 16 574330 574330 single base substitution A G upstream_gene_variant LINC-JP 16 594434 594434 single base substitution G A downstream_gene_variant LINC-JP 16 594434 594434 single base substitution G A intron_variant LINC-JP 16 597120 597120 deletion of <=200bp G - frameshift_variant L94 LINC-JP 16 597120 597120 deletion of <=200bp G - intron_variant LINC-JP 16 600995 600995 single base substitution G T downstream_gene_variant LINC-JP 16 600995 600995 single base substitution G T intron_variant LINC-JP 16 600995 600995 single base substitution G T upstream_gene_variant LINC-JP 16 601061 601061 single base substitution G T downstream_gene_variant LINC-JP 16 601061 601061 single base substitution G T intron_variant LINC-JP 16 601061 601061 single base substitution G T upstream_gene_variant LINC-JP 16 601077 601077 single base substitution G T downstream_gene_variant LINC-JP 16 601077 601077 single base substitution G T intron_variant LINC-JP 16 601077 601077 single base substitution G T upstream_gene_variant LINC-JP 16 601089 601089 single base substitution C T downstream_gene_variant LINC-JP 16 601089 601089 single base substitution C T intron_variant LINC-JP 16 601089 601089 single base substitution C T upstream_gene_variant LINC-JP 16 601145 601145 single base substitution C T downstream_gene_variant LINC-JP 16 601145 601145 single base substitution C T intron_variant LINC-JP 16 601145 601145 single base substitution C T upstream_gene_variant LINC-JP 16 602298 602298 single base substitution C T downstream_gene_variant LINC-JP 16 602298 602298 single base substitution C T exon_variant LINC-JP 16 602298 602298 single base substitution C T splice_region_variant LINC-JP 16 602298 602298 single base substitution C T upstream_gene_variant LINC-JP 16 602484 602484 single base substitution C T downstream_gene_variant LINC-JP 16 602484 602484 single base substitution C T exon_variant LINC-JP 16 602484 602484 single base substitution C T synonymous_variant A897A 2691C>T LINC-JP 16 602484 602484 single base substitution C T upstream_gene_variant LIRI-JP 16 574162 574162 single base substitution G T upstream_gene_variant LIRI-JP 16 576786 576786 single base substitution T C upstream_gene_variant LIRI-JP 16 578932 578932 single base substitution G A intron_variant LIRI-JP 16 589606 589606 single base substitution T G downstream_gene_variant LIRI-JP 16 589606 589606 single base substitution T G exon_variant LIRI-JP 16 589606 589606 single base substitution T G intron_variant LIRI-JP 16 593679 593679 single base substitution C T downstream_gene_variant LIRI-JP 16 593679 593679 single base substitution C T intron_variant LIRI-JP 16 595958 595958 single base substitution G T intron_variant LIRI-JP 16 602123 602123 single base substitution C T downstream_gene_variant LIRI-JP 16 602123 602123 single base substitution C T synonymous_variant P806P 2418C>T LIRI-JP 16 602123 602123 single base substitution C T upstream_gene_variant LIRI-JP 16 604852 604852 single base substitution G T downstream_gene_variant LIRI-JP 16 605370 605370 single base substitution G T downstream_gene_variant LIRI-JP 16 607489 607489 single base substitution G T downstream_gene_variant LIRI-JP 16 608431 608431 single base substitution G A downstream_gene_variant LUSC-KR 16 582843 582843 single base substitution A G intron_variant LUSC-KR 16 582843 582843 single base substitution A G upstream_gene_variant LUSC-KR 16 583801 583801 single base substitution C A intron_variant LUSC-KR 16 583801 583801 single base substitution C A upstream_gene_variant LUSC-KR 16 584107 584107 single base substitution C T intron_variant LUSC-KR 16 584107 584107 single base substitution C T upstream_gene_variant LUSC-KR 16 591036 591036 single base substitution G T downstream_gene_variant LUSC-KR 16 591036 591036 single base substitution G T intron_variant LUSC-KR 16 592826 592826 single base substitution G T downstream_gene_variant LUSC-KR 16 592826 592826 single base substitution G T intron_variant LUSC-KR 16 595341 595341 single base substitution G C intron_variant LUSC-KR 16 597148 597148 single base substitution G T intron_variant LUSC-KR 16 597148 597148 single base substitution G T stop_gained E104* 310G>T LUSC-KR 16 598329 598329 single base substitution G T downstream_gene_variant LUSC-KR 16 598329 598329 single base substitution G T intron_variant LUSC-KR 16 598329 598329 single base substitution G T upstream_gene_variant LUSC-KR 16 600802 600802 single base substitution G A downstream_gene_variant LUSC-KR 16 600802 600802 single base substitution G A intron_variant LUSC-KR 16 600802 600802 single base substitution G A upstream_gene_variant LUSC-KR 16 602595 602595 single base substitution G C downstream_gene_variant LUSC-KR 16 602595 602595 single base substitution G C exon_variant LUSC-KR 16 602595 602595 single base substitution G C intron_variant LUSC-KR 16 602595 602595 single base substitution G C upstream_gene_variant LUSC-KR 16 603471 603471 single base substitution A G exon_variant LUSC-KR 16 603471 603471 single base substitution A G intron_variant LUSC-KR 16 603471 603471 single base substitution A G synonymous_variant P1072P 3216A>G LUSC-US 16 597775 597775 single base substitution G A 5_prime_UTR_variant LUSC-US 16 597775 597775 single base substitution G A downstream_gene_variant LUSC-US 16 597775 597775 single base substitution G A missense_variant G313S 937G>A LUSC-US 16 597775 597775 single base substitution G A upstream_gene_variant LUSC-US 16 601555 601555 single base substitution G A downstream_gene_variant LUSC-US 16 601555 601555 single base substitution G A missense_variant G746S 2236G>A LUSC-US 16 601555 601555 single base substitution G A upstream_gene_variant LUSC-US 16 601631 601631 single base substitution G A downstream_gene_variant LUSC-US 16 601631 601631 single base substitution G A missense_variant G771D 2312G>A LUSC-US 16 601631 601631 single base substitution G A upstream_gene_variant LUSC-US 16 603040 603040 single base substitution A T downstream_gene_variant LUSC-US 16 603040 603040 single base substitution A T missense_variant R1028W 3082A>T LUSC-US 16 603040 603040 single base substitution A T missense_variant S65C 193A>T LUSC-US 16 603040 603040 single base substitution A T splice_region_variant LUSC-US 16 603410 603410 single base substitution G A exon_variant LUSC-US 16 603410 603410 single base substitution G A intron_variant LUSC-US 16 603410 603410 single base substitution G A missense_variant R1052H 3155G>A MALY-DE 16 572721 572722 deletion of <=200bp GA - upstream_gene_variant MALY-DE 16 590176 590176 single base substitution C G downstream_gene_variant MALY-DE 16 590176 590176 single base substitution C G intron_variant MALY-DE 16 596670 596670 single base substitution C T intron_variant MALY-DE 16 598014 598014 single base substitution C T downstream_gene_variant MALY-DE 16 598014 598014 single base substitution C T missense_variant R48W 142C>T MALY-DE 16 598014 598014 single base substitution C T synonymous_variant C392C 1176C>T MALY-DE 16 598014 598014 single base substitution C T upstream_gene_variant MALY-DE 16 598259 598259 single base substitution G A downstream_gene_variant MALY-DE 16 598259 598259 single base substitution G A stop_gained W474* 1421G>A MALY-DE 16 598259 598259 single base substitution G A upstream_gene_variant MALY-DE 16 600213 600241 deletion of <=200bp GTGCCTCGACCCCCAGGGGCCTCCTCGGA - downstream_gene_variant MALY-DE 16 600213 600241 deletion of <=200bp GTGCCTCGACCCCCAGGGGCCTCCTCGGA - intron_variant MALY-DE 16 600213 600241 deletion of <=200bp GTGCCTCGACCCCCAGGGGCCTCCTCGGA - upstream_gene_variant MALY-DE 16 601138 601138 insertion of <=200bp - T downstream_gene_variant MALY-DE 16 601138 601138 insertion of <=200bp - T intron_variant MALY-DE 16 601138 601138 insertion of <=200bp - T upstream_gene_variant MALY-DE 16 601203 601203 deletion of <=200bp T - downstream_gene_variant MALY-DE 16 601203 601203 deletion of <=200bp T - intron_variant MALY-DE 16 601203 601203 deletion of <=200bp T - upstream_gene_variant MALY-DE 16 605609 605609 single base substitution C T downstream_gene_variant MELA-AU 16 573725 573725 single base substitution G T upstream_gene_variant MELA-AU 16 576471 576471 single base substitution T C upstream_gene_variant MELA-AU 16 577196 577196 single base substitution C T upstream_gene_variant MELA-AU 16 577430 577430 single base substitution G A upstream_gene_variant MELA-AU 16 577445 577446 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 577542 577542 single base substitution G A upstream_gene_variant MELA-AU 16 577618 577618 single base substitution G A upstream_gene_variant MELA-AU 16 578805 578805 single base substitution C T intron_variant MELA-AU 16 579262 579262 single base substitution C T intron_variant MELA-AU 16 580197 580197 single base substitution C T intron_variant MELA-AU 16 580249 580249 single base substitution C T intron_variant MELA-AU 16 580954 580954 single base substitution C T intron_variant MELA-AU 16 581292 581292 single base substitution G A intron_variant MELA-AU 16 581401 581401 single base substitution C T intron_variant MELA-AU 16 581502 581502 single base substitution C T intron_variant MELA-AU 16 581608 581608 single base substitution C T intron_variant MELA-AU 16 582366 582366 single base substitution C T intron_variant MELA-AU 16 582366 582366 single base substitution C T upstream_gene_variant MELA-AU 16 582846 582846 single base substitution C T intron_variant MELA-AU 16 582846 582846 single base substitution C T upstream_gene_variant MELA-AU 16 583018 583018 single base substitution C T intron_variant MELA-AU 16 583018 583018 single base substitution C T upstream_gene_variant MELA-AU 16 583517 583518 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 583517 583518 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 583751 583751 single base substitution C T intron_variant MELA-AU 16 583751 583751 single base substitution C T upstream_gene_variant MELA-AU 16 583900 583900 single base substitution C T intron_variant MELA-AU 16 583900 583900 single base substitution C T upstream_gene_variant MELA-AU 16 584274 584275 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 584274 584275 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 584463 584464 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 584463 584464 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 584782 584782 single base substitution C T intron_variant MELA-AU 16 584782 584782 single base substitution C T upstream_gene_variant MELA-AU 16 585337 585337 single base substitution C T intron_variant MELA-AU 16 585337 585337 single base substitution C T upstream_gene_variant MELA-AU 16 585546 585546 single base substitution C T intron_variant MELA-AU 16 585546 585546 single base substitution C T upstream_gene_variant MELA-AU 16 585580 585580 single base substitution C T intron_variant MELA-AU 16 585580 585580 single base substitution C T upstream_gene_variant MELA-AU 16 586262 586262 single base substitution C T intron_variant MELA-AU 16 586262 586262 single base substitution C T upstream_gene_variant MELA-AU 16 586457 586457 single base substitution C T intron_variant MELA-AU 16 586457 586457 single base substitution C T upstream_gene_variant MELA-AU 16 586471 586471 single base substitution G A intron_variant MELA-AU 16 586471 586471 single base substitution G A upstream_gene_variant MELA-AU 16 586574 586574 single base substitution C T intron_variant MELA-AU 16 586574 586574 single base substitution C T upstream_gene_variant MELA-AU 16 586718 586718 single base substitution C T intron_variant MELA-AU 16 586718 586718 single base substitution C T upstream_gene_variant MELA-AU 16 586736 586736 single base substitution C T intron_variant MELA-AU 16 586736 586736 single base substitution C T upstream_gene_variant MELA-AU 16 588535 588535 single base substitution C T downstream_gene_variant MELA-AU 16 588535 588535 single base substitution C T exon_variant MELA-AU 16 588535 588535 single base substitution C T intron_variant MELA-AU 16 588813 588813 single base substitution C T downstream_gene_variant MELA-AU 16 588813 588813 single base substitution C T exon_variant MELA-AU 16 588813 588813 single base substitution C T intron_variant MELA-AU 16 588970 588970 single base substitution C T downstream_gene_variant MELA-AU 16 588970 588970 single base substitution C T exon_variant MELA-AU 16 588970 588970 single base substitution C T intron_variant MELA-AU 16 589131 589131 single base substitution C T downstream_gene_variant MELA-AU 16 589131 589131 single base substitution C T exon_variant MELA-AU 16 589131 589131 single base substitution C T intron_variant MELA-AU 16 589540 589540 single base substitution C T downstream_gene_variant MELA-AU 16 589540 589540 single base substitution C T exon_variant MELA-AU 16 589540 589540 single base substitution C T intron_variant MELA-AU 16 589702 589702 single base substitution C T downstream_gene_variant MELA-AU 16 589702 589702 single base substitution C T exon_variant MELA-AU 16 589702 589702 single base substitution C T intron_variant MELA-AU 16 589729 589729 single base substitution A T downstream_gene_variant MELA-AU 16 589729 589729 single base substitution A T exon_variant MELA-AU 16 589729 589729 single base substitution A T intron_variant MELA-AU 16 590123 590123 single base substitution C G downstream_gene_variant MELA-AU 16 590123 590123 single base substitution C G intron_variant MELA-AU 16 590230 590230 single base substitution C T downstream_gene_variant MELA-AU 16 590230 590230 single base substitution C T intron_variant MELA-AU 16 590442 590442 single base substitution C T downstream_gene_variant MELA-AU 16 590442 590442 single base substitution C T intron_variant MELA-AU 16 590688 590688 single base substitution C T downstream_gene_variant MELA-AU 16 590688 590688 single base substitution C T intron_variant MELA-AU 16 590827 590827 single base substitution C T downstream_gene_variant MELA-AU 16 590827 590827 single base substitution C T intron_variant MELA-AU 16 591258 591258 single base substitution C T downstream_gene_variant MELA-AU 16 591258 591258 single base substitution C T intron_variant MELA-AU 16 591486 591486 single base substitution G A downstream_gene_variant MELA-AU 16 591486 591486 single base substitution G A intron_variant MELA-AU 16 591527 591527 single base substitution G C downstream_gene_variant MELA-AU 16 591527 591527 single base substitution G C intron_variant MELA-AU 16 591734 591734 single base substitution C T downstream_gene_variant MELA-AU 16 591734 591734 single base substitution C T intron_variant MELA-AU 16 591804 591804 single base substitution C T downstream_gene_variant MELA-AU 16 591804 591804 single base substitution C T intron_variant MELA-AU 16 592276 592276 single base substitution C T downstream_gene_variant MELA-AU 16 592276 592276 single base substitution C T intron_variant MELA-AU 16 592547 592547 single base substitution C T downstream_gene_variant MELA-AU 16 592547 592547 single base substitution C T intron_variant MELA-AU 16 592678 592678 single base substitution C T downstream_gene_variant MELA-AU 16 592678 592678 single base substitution C T intron_variant MELA-AU 16 593236 593236 single base substitution C T downstream_gene_variant MELA-AU 16 593236 593236 single base substitution C T intron_variant MELA-AU 16 593299 593299 single base substitution C T downstream_gene_variant MELA-AU 16 593299 593299 single base substitution C T intron_variant MELA-AU 16 593538 593539 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 593538 593539 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 593755 593755 single base substitution G A downstream_gene_variant MELA-AU 16 593755 593755 single base substitution G A intron_variant MELA-AU 16 593902 593902 single base substitution C T downstream_gene_variant MELA-AU 16 593902 593902 single base substitution C T intron_variant MELA-AU 16 594424 594424 single base substitution C T downstream_gene_variant MELA-AU 16 594424 594424 single base substitution C T intron_variant MELA-AU 16 595367 595367 single base substitution C T intron_variant MELA-AU 16 595479 595479 single base substitution C T intron_variant MELA-AU 16 595585 595585 single base substitution C T intron_variant MELA-AU 16 596394 596394 single base substitution C T intron_variant MELA-AU 16 596709 596709 single base substitution C T intron_variant MELA-AU 16 596730 596730 single base substitution C T intron_variant MELA-AU 16 596926 596926 single base substitution C T intron_variant MELA-AU 16 596926 596926 single base substitution C T missense_variant R30W 88C>T MELA-AU 16 597040 597041 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 597040 597041 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant G68N 202GG>AA MELA-AU 16 597543 597543 single base substitution C T downstream_gene_variant MELA-AU 16 597543 597543 single base substitution C T intron_variant MELA-AU 16 597543 597543 single base substitution C T synonymous_variant F235F 705C>T MELA-AU 16 597543 597543 single base substitution C T upstream_gene_variant MELA-AU 16 597653 597654 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 16 597653 597654 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 597653 597654 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant R272K 815GG>AA MELA-AU 16 597653 597654 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 597836 597836 single base substitution C T 5_prime_UTR_variant MELA-AU 16 597836 597836 single base substitution C T downstream_gene_variant MELA-AU 16 597836 597836 single base substitution C T missense_variant P333L 998C>T MELA-AU 16 597836 597836 single base substitution C T upstream_gene_variant MELA-AU 16 598010 598010 single base substitution C T downstream_gene_variant MELA-AU 16 598010 598010 single base substitution C T missense_variant P391L 1172C>T MELA-AU 16 598010 598010 single base substitution C T synonymous_variant P46P 138C>T MELA-AU 16 598010 598010 single base substitution C T upstream_gene_variant MELA-AU 16 598045 598045 single base substitution C T downstream_gene_variant MELA-AU 16 598045 598045 single base substitution C T missense_variant P58L 173C>T MELA-AU 16 598045 598045 single base substitution C T stop_gained Q403* 1207C>T MELA-AU 16 598045 598045 single base substitution C T upstream_gene_variant MELA-AU 16 598318 598318 single base substitution C T downstream_gene_variant MELA-AU 16 598318 598318 single base substitution C T intron_variant MELA-AU 16 598318 598318 single base substitution C T upstream_gene_variant MELA-AU 16 598346 598347 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 598346 598347 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 598346 598347 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 598347 598347 single base substitution C T downstream_gene_variant MELA-AU 16 598347 598347 single base substitution C T intron_variant MELA-AU 16 598347 598347 single base substitution C T upstream_gene_variant MELA-AU 16 598759 598760 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 598759 598760 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 598759 598760 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 598760 598760 single base substitution C T downstream_gene_variant MELA-AU 16 598760 598760 single base substitution C T intron_variant MELA-AU 16 598760 598760 single base substitution C T upstream_gene_variant MELA-AU 16 599250 599250 single base substitution C T downstream_gene_variant MELA-AU 16 599250 599250 single base substitution C T intron_variant MELA-AU 16 599250 599250 single base substitution C T upstream_gene_variant MELA-AU 16 599258 599258 single base substitution C T downstream_gene_variant MELA-AU 16 599258 599258 single base substitution C T intron_variant MELA-AU 16 599258 599258 single base substitution C T upstream_gene_variant MELA-AU 16 599555 599555 single base substitution C T downstream_gene_variant MELA-AU 16 599555 599555 single base substitution C T intron_variant MELA-AU 16 599555 599555 single base substitution C T upstream_gene_variant MELA-AU 16 599826 599826 single base substitution C T downstream_gene_variant MELA-AU 16 599826 599826 single base substitution C T missense_variant S685F 2054C>T MELA-AU 16 599826 599826 single base substitution C T upstream_gene_variant MELA-AU 16 599909 599909 single base substitution G T downstream_gene_variant MELA-AU 16 599909 599909 single base substitution G T intron_variant MELA-AU 16 599909 599909 single base substitution G T upstream_gene_variant MELA-AU 16 599965 599965 single base substitution C T downstream_gene_variant MELA-AU 16 599965 599965 single base substitution C T intron_variant MELA-AU 16 599965 599965 single base substitution C T upstream_gene_variant MELA-AU 16 600160 600161 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 600160 600161 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 600160 600161 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 600238 600238 single base substitution C A downstream_gene_variant MELA-AU 16 600238 600238 single base substitution C A intron_variant MELA-AU 16 600238 600238 single base substitution C A upstream_gene_variant MELA-AU 16 600462 600462 single base substitution C G downstream_gene_variant MELA-AU 16 600462 600462 single base substitution C G intron_variant MELA-AU 16 600462 600462 single base substitution C G upstream_gene_variant MELA-AU 16 600624 600624 single base substitution G A downstream_gene_variant MELA-AU 16 600624 600624 single base substitution G A intron_variant MELA-AU 16 600624 600624 single base substitution G A upstream_gene_variant MELA-AU 16 601531 601532 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 601531 601532 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P738L 2212CC>TT MELA-AU 16 601531 601532 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 601742 601742 single base substitution C T downstream_gene_variant MELA-AU 16 601742 601742 single base substitution C T intron_variant MELA-AU 16 601742 601742 single base substitution C T upstream_gene_variant MELA-AU 16 602277 602277 single base substitution C T downstream_gene_variant MELA-AU 16 602277 602277 single base substitution C T intron_variant MELA-AU 16 602277 602277 single base substitution C T upstream_gene_variant MELA-AU 16 602523 602524 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 602523 602524 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 16 602523 602524 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant AP910AS MELA-AU 16 602523 602524 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 602614 602614 single base substitution C T downstream_gene_variant MELA-AU 16 602614 602614 single base substitution C T exon_variant MELA-AU 16 602614 602614 single base substitution C T missense_variant P916L 2747C>T MELA-AU 16 602614 602614 single base substitution C T upstream_gene_variant MELA-AU 16 602830 602830 single base substitution C T downstream_gene_variant MELA-AU 16 602830 602830 single base substitution C T intron_variant MELA-AU 16 603622 603622 single base substitution C T 3_prime_UTR_variant MELA-AU 16 603622 603622 single base substitution C T exon_variant MELA-AU 16 603622 603622 single base substitution C T intron_variant MELA-AU 16 603705 603705 single base substitution C T 3_prime_UTR_variant MELA-AU 16 603705 603705 single base substitution C T exon_variant MELA-AU 16 603705 603705 single base substitution C T intron_variant MELA-AU 16 603822 603823 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 16 603822 603823 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 16 603822 603823 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 603954 603955 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 16 603954 603955 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 16 603954 603955 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 604082 604083 deletion of <=200bp TA - 3_prime_UTR_variant MELA-AU 16 604082 604083 deletion of <=200bp TA - exon_variant MELA-AU 16 604082 604083 deletion of <=200bp TA - intron_variant MELA-AU 16 604371 604371 single base substitution C T 3_prime_UTR_variant MELA-AU 16 604371 604371 single base substitution C T exon_variant MELA-AU 16 604371 604371 single base substitution C T intron_variant MELA-AU 16 604459 604459 single base substitution C T 3_prime_UTR_variant MELA-AU 16 604459 604459 single base substitution C T exon_variant MELA-AU 16 604459 604459 single base substitution C T intron_variant MELA-AU 16 604467 604467 single base substitution C T 3_prime_UTR_variant MELA-AU 16 604467 604467 single base substitution C T exon_variant MELA-AU 16 604467 604467 single base substitution C T intron_variant MELA-AU 16 604577 604577 single base substitution C T 3_prime_UTR_variant MELA-AU 16 604577 604577 single base substitution C T exon_variant MELA-AU 16 604670 604670 single base substitution G A downstream_gene_variant MELA-AU 16 604749 604749 single base substitution G A downstream_gene_variant MELA-AU 16 605022 605022 single base substitution T C downstream_gene_variant MELA-AU 16 605024 605024 single base substitution C T downstream_gene_variant MELA-AU 16 605411 605411 single base substitution C T downstream_gene_variant MELA-AU 16 605957 605957 single base substitution C T downstream_gene_variant MELA-AU 16 605968 605968 single base substitution C T downstream_gene_variant MELA-AU 16 606021 606021 single base substitution C T downstream_gene_variant MELA-AU 16 606249 606249 single base substitution G T downstream_gene_variant MELA-AU 16 606298 606298 single base substitution G A downstream_gene_variant MELA-AU 16 606420 606420 single base substitution G A downstream_gene_variant MELA-AU 16 606647 606647 single base substitution G A downstream_gene_variant MELA-AU 16 606915 606915 single base substitution G A downstream_gene_variant MELA-AU 16 607036 607036 single base substitution G A downstream_gene_variant MELA-AU 16 607328 607328 single base substitution C T downstream_gene_variant MELA-AU 16 607388 607388 single base substitution C T downstream_gene_variant MELA-AU 16 607833 607833 single base substitution G A downstream_gene_variant MELA-AU 16 608016 608016 single base substitution G A downstream_gene_variant MELA-AU 16 608043 608043 single base substitution G A downstream_gene_variant MELA-AU 16 608309 608309 single base substitution C T downstream_gene_variant MELA-AU 16 608531 608534 deletion of <=200bp ATGC - downstream_gene_variant MELA-AU 16 608842 608842 single base substitution G A downstream_gene_variant MELA-AU 16 609070 609070 single base substitution G A downstream_gene_variant MELA-AU 16 609117 609117 single base substitution G A downstream_gene_variant MELA-AU 16 609152 609152 single base substitution G A downstream_gene_variant MELA-AU 16 609386 609386 single base substitution G A downstream_gene_variant ORCA-IN 16 580253 580253 single base substitution G C intron_variant ORCA-IN 16 587800 587800 single base substitution G A downstream_gene_variant ORCA-IN 16 587800 587800 single base substitution G A exon_variant ORCA-IN 16 587800 587800 single base substitution G A intron_variant ORCA-IN 16 588132 588132 single base substitution C G downstream_gene_variant ORCA-IN 16 588132 588132 single base substitution C G exon_variant ORCA-IN 16 588132 588132 single base substitution C G intron_variant ORCA-IN 16 596907 596907 single base substitution C A intron_variant ORCA-IN 16 596907 596907 single base substitution C A stop_gained C23* 69C>A ORCA-IN 16 599053 599053 single base substitution G T downstream_gene_variant ORCA-IN 16 599053 599053 single base substitution G T missense_variant A504S 1510G>T ORCA-IN 16 599053 599053 single base substitution G T upstream_gene_variant ORCA-IN 16 601326 601326 single base substitution C A downstream_gene_variant ORCA-IN 16 601326 601326 single base substitution C A synonymous_variant G697G 2091C>A ORCA-IN 16 601326 601326 single base substitution C A upstream_gene_variant ORCA-IN 16 602066 602066 single base substitution G T downstream_gene_variant ORCA-IN 16 602066 602066 single base substitution G T synonymous_variant V787V 2361G>T ORCA-IN 16 602066 602066 single base substitution G T upstream_gene_variant ORCA-IN 16 607063 607063 single base substitution G A downstream_gene_variant OV-AU 16 573809 573809 single base substitution G C upstream_gene_variant OV-AU 16 575846 575846 single base substitution C G upstream_gene_variant OV-AU 16 581023 581023 single base substitution C T intron_variant OV-AU 16 581657 581657 single base substitution C T intron_variant OV-AU 16 598004 598004 single base substitution C A downstream_gene_variant OV-AU 16 598004 598004 single base substitution C A missense_variant P389H 1166C>A OV-AU 16 598004 598004 single base substitution C A synonymous_variant A44A 132C>A OV-AU 16 598004 598004 single base substitution C A upstream_gene_variant OV-AU 16 599994 599994 single base substitution A C downstream_gene_variant OV-AU 16 599994 599994 single base substitution A C intron_variant OV-AU 16 599994 599994 single base substitution A C upstream_gene_variant OV-AU 16 602807 602807 single base substitution A G downstream_gene_variant OV-AU 16 602807 602807 single base substitution A G intron_variant OV-AU 16 609381 609381 single base substitution G A downstream_gene_variant PACA-AU 16 572883 572883 single base substitution C T upstream_gene_variant PACA-AU 16 577329 577329 single base substitution C T upstream_gene_variant PACA-AU 16 579496 579496 single base substitution C T intron_variant PACA-AU 16 586474 586492 deletion of <=200bp GTGCAGTGGCGCGGTCTCG - intron_variant PACA-AU 16 586474 586492 deletion of <=200bp GTGCAGTGGCGCGGTCTCG - upstream_gene_variant PACA-AU 16 587804 587804 single base substitution G T downstream_gene_variant PACA-AU 16 587804 587804 single base substitution G T exon_variant PACA-AU 16 587804 587804 single base substitution G T intron_variant PACA-AU 16 598242 598242 single base substitution C T downstream_gene_variant PACA-AU 16 598242 598242 single base substitution C T synonymous_variant G468G 1404C>T PACA-AU 16 598242 598242 single base substitution C T upstream_gene_variant PACA-AU 16 600495 600495 single base substitution G A downstream_gene_variant PACA-AU 16 600495 600495 single base substitution G A intron_variant PACA-AU 16 600495 600495 single base substitution G A upstream_gene_variant PACA-AU 16 601941 601941 single base substitution C T downstream_gene_variant PACA-AU 16 601941 601941 single base substitution C T intron_variant PACA-AU 16 601941 601941 single base substitution C T upstream_gene_variant PACA-AU 16 601953 601953 single base substitution C T downstream_gene_variant PACA-AU 16 601953 601953 single base substitution C T intron_variant PACA-AU 16 601953 601953 single base substitution C T upstream_gene_variant PACA-AU 16 604067 604067 single base substitution G A 3_prime_UTR_variant PACA-AU 16 604067 604067 single base substitution G A exon_variant PACA-AU 16 604067 604067 single base substitution G A intron_variant PACA-AU 16 604146 604146 single base substitution C T 3_prime_UTR_variant PACA-AU 16 604146 604146 single base substitution C T exon_variant PACA-AU 16 604146 604146 single base substitution C T intron_variant PACA-AU 16 607633 607633 single base substitution C A downstream_gene_variant PACA-AU 16 608455 608455 single base substitution C T downstream_gene_variant PACA-CA 16 574175 574175 single base substitution G A upstream_gene_variant PACA-CA 16 575053 575053 single base substitution G A upstream_gene_variant PACA-CA 16 580871 580871 single base substitution C G intron_variant PACA-CA 16 588125 588125 single base substitution G A downstream_gene_variant PACA-CA 16 588125 588125 single base substitution G A exon_variant PACA-CA 16 588125 588125 single base substitution G A intron_variant PACA-CA 16 588588 588588 single base substitution G A downstream_gene_variant PACA-CA 16 588588 588588 single base substitution G A exon_variant PACA-CA 16 588588 588588 single base substitution G A intron_variant PACA-CA 16 589060 589060 single base substitution G A downstream_gene_variant PACA-CA 16 589060 589060 single base substitution G A exon_variant PACA-CA 16 589060 589060 single base substitution G A intron_variant PACA-CA 16 589545 589545 single base substitution G C downstream_gene_variant PACA-CA 16 589545 589545 single base substitution G C exon_variant PACA-CA 16 589545 589545 single base substitution G C intron_variant PACA-CA 16 590886 590886 single base substitution G C downstream_gene_variant PACA-CA 16 590886 590886 single base substitution G C intron_variant PACA-CA 16 591482 591482 single base substitution G A downstream_gene_variant PACA-CA 16 591482 591482 single base substitution G A intron_variant PACA-CA 16 593515 593515 single base substitution C A downstream_gene_variant PACA-CA 16 593515 593515 single base substitution C A intron_variant PACA-CA 16 593891 593891 single base substitution G T downstream_gene_variant PACA-CA 16 593891 593891 single base substitution G T intron_variant PACA-CA 16 596018 596018 single base substitution A T intron_variant PACA-CA 16 597283 597283 single base substitution T A intron_variant PACA-CA 16 597283 597283 single base substitution T A missense_variant C149S 445T>A PACA-CA 16 599800 599800 single base substitution C G downstream_gene_variant PACA-CA 16 599800 599800 single base substitution C G missense_variant D676E 2028C>G PACA-CA 16 599800 599800 single base substitution C G upstream_gene_variant PACA-CA 16 602101 602101 single base substitution C T downstream_gene_variant PACA-CA 16 602101 602101 single base substitution C T missense_variant A799V 2396C>T PACA-CA 16 602101 602101 single base substitution C T upstream_gene_variant PACA-CA 16 603934 603934 single base substitution C T 3_prime_UTR_variant PACA-CA 16 603934 603934 single base substitution C T exon_variant PACA-CA 16 603934 603934 single base substitution C T intron_variant PACA-CA 16 604612 604612 insertion of <=200bp - A 3_prime_UTR_variant PACA-CA 16 604612 604612 insertion of <=200bp - A exon_variant PACA-CA 16 607719 607719 single base substitution C T downstream_gene_variant PACA-CA 16 608454 608454 single base substitution G T downstream_gene_variant PAEN-IT 16 601690 601690 single base substitution A T downstream_gene_variant PAEN-IT 16 601690 601690 single base substitution A T intron_variant PAEN-IT 16 601690 601690 single base substitution A T upstream_gene_variant PBCA-DE 16 577460 577464 deletion of <=200bp GCAAG - upstream_gene_variant PBCA-DE 16 592759 592759 insertion of <=200bp - A downstream_gene_variant PBCA-DE 16 592759 592759 insertion of <=200bp - A intron_variant PBCA-DE 16 594854 594854 insertion of <=200bp - CGT downstream_gene_variant PBCA-DE 16 594854 594854 insertion of <=200bp - CGT intron_variant PBCA-DE 16 600679 600679 deletion of <=200bp C - downstream_gene_variant PBCA-DE 16 600679 600679 deletion of <=200bp C - intron_variant PBCA-DE 16 600679 600679 deletion of <=200bp C - upstream_gene_variant PBCA-DE 16 600712 600712 deletion of <=200bp T - downstream_gene_variant PBCA-DE 16 600712 600712 deletion of <=200bp T - intron_variant PBCA-DE 16 600712 600712 deletion of <=200bp T - upstream_gene_variant PBCA-DE 16 600891 600891 single base substitution T G downstream_gene_variant PBCA-DE 16 600891 600891 single base substitution T G intron_variant PBCA-DE 16 600891 600891 single base substitution T G upstream_gene_variant PBCA-DE 16 601007 601007 deletion of <=200bp T - downstream_gene_variant PBCA-DE 16 601007 601007 deletion of <=200bp T - intron_variant PBCA-DE 16 601007 601007 deletion of <=200bp T - upstream_gene_variant PBCA-DE 16 601105 601105 deletion of <=200bp T - downstream_gene_variant PBCA-DE 16 601105 601105 deletion of <=200bp T - intron_variant PBCA-DE 16 601105 601105 deletion of <=200bp T - upstream_gene_variant PBCA-DE 16 601160 601160 single base substitution G A downstream_gene_variant PBCA-DE 16 601160 601160 single base substitution G A intron_variant PBCA-DE 16 601160 601160 single base substitution G A upstream_gene_variant PBCA-DE 16 604427 604427 single base substitution G A 3_prime_UTR_variant PBCA-DE 16 604427 604427 single base substitution G A exon_variant PBCA-DE 16 604427 604427 single base substitution G A intron_variant PBCA-DE 16 605343 605343 single base substitution T C downstream_gene_variant PBCA-DE 16 607325 607325 single base substitution G C downstream_gene_variant PRAD-CA 16 580546 580546 single base substitution G T intron_variant PRAD-CA 16 591213 591213 single base substitution C G downstream_gene_variant PRAD-CA 16 591213 591213 single base substitution C G intron_variant PRAD-CA 16 593763 593763 single base substitution C T downstream_gene_variant PRAD-CA 16 593763 593763 single base substitution C T intron_variant PRAD-CA 16 605005 605005 single base substitution C T downstream_gene_variant PRAD-UK 16 576762 576779 deletion of <=200bp CTCGGCGGACCAGCCCTG - upstream_gene_variant PRAD-UK 16 581914 581914 single base substitution G A intron_variant PRAD-UK 16 581914 581914 single base substitution G A upstream_gene_variant PRAD-UK 16 588618 588618 single base substitution G C downstream_gene_variant PRAD-UK 16 588618 588618 single base substitution G C exon_variant PRAD-UK 16 588618 588618 single base substitution G C intron_variant PRAD-UK 16 601220 601236 deletion of <=200bp TCCCGGTCAGTGAGGGT - downstream_gene_variant PRAD-UK 16 601220 601236 deletion of <=200bp TCCCGGTCAGTGAGGGT - intron_variant PRAD-UK 16 601220 601236 deletion of <=200bp TCCCGGTCAGTGAGGGT - upstream_gene_variant PRAD-UK 16 604138 604138 single base substitution G T 3_prime_UTR_variant PRAD-UK 16 604138 604138 single base substitution G T exon_variant PRAD-UK 16 604138 604138 single base substitution G T intron_variant PRAD-US 16 602413 602413 single base substitution C T downstream_gene_variant PRAD-US 16 602413 602413 single base substitution C T exon_variant PRAD-US 16 602413 602413 single base substitution C T missense_variant R874C 2620C>T PRAD-US 16 602413 602413 single base substitution C T upstream_gene_variant PRAD-US 16 602648 602648 deletion of <=200bp G - downstream_gene_variant PRAD-US 16 602648 602648 deletion of <=200bp G - exon_variant PRAD-US 16 602648 602648 deletion of <=200bp G - frameshift_variant P927 PRAD-US 16 602648 602648 deletion of <=200bp G - upstream_gene_variant READ-US 16 597229 597229 single base substitution A G intron_variant READ-US 16 597229 597229 single base substitution A G missense_variant K131E 391A>G READ-US 16 597357 597357 single base substitution G A intron_variant READ-US 16 597357 597357 single base substitution G A synonymous_variant S173S 519G>A READ-US 16 597357 597357 single base substitution G A upstream_gene_variant READ-US 16 597763 597763 single base substitution C A 5_prime_UTR_variant READ-US 16 597763 597763 single base substitution C A downstream_gene_variant READ-US 16 597763 597763 single base substitution C A missense_variant R309S 925C>A READ-US 16 597763 597763 single base substitution C A upstream_gene_variant READ-US 16 597984 597984 single base substitution C T downstream_gene_variant READ-US 16 597984 597984 single base substitution C T stop_gained R38* 112C>T READ-US 16 597984 597984 single base substitution C T synonymous_variant P382P 1146C>T READ-US 16 597984 597984 single base substitution C T upstream_gene_variant READ-US 16 599028 599028 single base substitution C T downstream_gene_variant READ-US 16 599028 599028 single base substitution C T synonymous_variant P495P 1485C>T READ-US 16 599028 599028 single base substitution C T upstream_gene_variant READ-US 16 602192 602192 single base substitution G A downstream_gene_variant READ-US 16 602192 602192 single base substitution G A synonymous_variant A829A 2487G>A READ-US 16 602192 602192 single base substitution G A upstream_gene_variant READ-US 16 602313 602313 single base substitution C A downstream_gene_variant READ-US 16 602313 602313 single base substitution C A exon_variant READ-US 16 602313 602313 single base substitution C A synonymous_variant A840A 2520C>A READ-US 16 602313 602313 single base substitution C A upstream_gene_variant RECA-EU 16 581047 581047 single base substitution C T intron_variant RECA-EU 16 584881 584881 single base substitution T A intron_variant RECA-EU 16 584881 584881 single base substitution T A upstream_gene_variant RECA-EU 16 589906 589906 single base substitution C T downstream_gene_variant RECA-EU 16 589906 589906 single base substitution C T intron_variant RECA-EU 16 591077 591077 single base substitution A T downstream_gene_variant RECA-EU 16 591077 591077 single base substitution A T intron_variant RECA-EU 16 591304 591304 single base substitution G A downstream_gene_variant RECA-EU 16 591304 591304 single base substitution G A intron_variant RECA-EU 16 592184 592184 single base substitution T G downstream_gene_variant RECA-EU 16 592184 592184 single base substitution T G intron_variant RECA-EU 16 600766 600766 single base substitution T C downstream_gene_variant RECA-EU 16 600766 600766 single base substitution T C intron_variant RECA-EU 16 600766 600766 single base substitution T C upstream_gene_variant SKCA-BR 16 573458 573458 single base substitution G C upstream_gene_variant SKCA-BR 16 574421 574421 single base substitution G T upstream_gene_variant SKCA-BR 16 574698 574698 single base substitution C T upstream_gene_variant SKCA-BR 16 574798 574798 single base substitution G A upstream_gene_variant SKCA-BR 16 577193 577193 single base substitution T C upstream_gene_variant SKCA-BR 16 577660 577660 single base substitution G A upstream_gene_variant SKCA-BR 16 577674 577674 single base substitution C T upstream_gene_variant SKCA-BR 16 577959 577959 single base substitution C G 5_prime_UTR_variant SKCA-BR 16 577959 577959 single base substitution C G exon_variant SKCA-BR 16 577969 577969 single base substitution C G 5_prime_UTR_variant SKCA-BR 16 577969 577969 single base substitution C G exon_variant SKCA-BR 16 577976 577976 single base substitution C G 5_prime_UTR_variant SKCA-BR 16 577976 577976 single base substitution C G exon_variant SKCA-BR 16 578190 578190 single base substitution C T intron_variant SKCA-BR 16 578511 578511 single base substitution G C intron_variant SKCA-BR 16 583009 583009 single base substitution T G intron_variant SKCA-BR 16 583009 583009 single base substitution T G upstream_gene_variant SKCA-BR 16 585405 585405 single base substitution C T intron_variant SKCA-BR 16 585405 585405 single base substitution C T upstream_gene_variant SKCA-BR 16 586294 586294 single base substitution C T intron_variant SKCA-BR 16 586294 586294 single base substitution C T upstream_gene_variant SKCA-BR 16 589248 589248 single base substitution G A downstream_gene_variant SKCA-BR 16 589248 589248 single base substitution G A exon_variant SKCA-BR 16 589248 589248 single base substitution G A intron_variant SKCA-BR 16 590324 590324 single base substitution T G downstream_gene_variant SKCA-BR 16 590324 590324 single base substitution T G intron_variant SKCA-BR 16 590983 590983 single base substitution G A downstream_gene_variant SKCA-BR 16 590983 590983 single base substitution G A intron_variant SKCA-BR 16 591586 591586 single base substitution T C downstream_gene_variant SKCA-BR 16 591586 591586 single base substitution T C intron_variant SKCA-BR 16 592472 592472 single base substitution C T downstream_gene_variant SKCA-BR 16 592472 592472 single base substitution C T intron_variant SKCA-BR 16 592756 592756 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 16 592756 592756 insertion of <=200bp - TA intron_variant SKCA-BR 16 592902 592902 single base substitution T A downstream_gene_variant SKCA-BR 16 592902 592902 single base substitution T A intron_variant SKCA-BR 16 595277 595277 single base substitution T G intron_variant SKCA-BR 16 595315 595315 single base substitution T G intron_variant SKCA-BR 16 595369 595369 single base substitution A C intron_variant SKCA-BR 16 597074 597074 single base substitution T C intron_variant SKCA-BR 16 597074 597074 single base substitution T C missense_variant F79S 236T>C SKCA-BR 16 598305 598305 single base substitution C T downstream_gene_variant SKCA-BR 16 598305 598305 single base substitution C T intron_variant SKCA-BR 16 598305 598305 single base substitution C T upstream_gene_variant SKCA-BR 16 599341 599341 single base substitution T G downstream_gene_variant SKCA-BR 16 599341 599341 single base substitution T G missense_variant V571G 1712T>G SKCA-BR 16 599341 599341 single base substitution T G upstream_gene_variant SKCA-BR 16 600678 600679 deletion of <=200bp GC - downstream_gene_variant SKCA-BR 16 600678 600679 deletion of <=200bp GC - intron_variant SKCA-BR 16 600678 600679 deletion of <=200bp GC - upstream_gene_variant SKCA-BR 16 600696 600696 single base substitution T A downstream_gene_variant SKCA-BR 16 600696 600696 single base substitution T A intron_variant SKCA-BR 16 600696 600696 single base substitution T A upstream_gene_variant SKCA-BR 16 601069 601069 insertion of <=200bp - AG downstream_gene_variant SKCA-BR 16 601069 601069 insertion of <=200bp - AG intron_variant SKCA-BR 16 601069 601069 insertion of <=200bp - AG upstream_gene_variant SKCA-BR 16 601104 601105 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 16 601104 601105 deletion of <=200bp GT - intron_variant SKCA-BR 16 601104 601105 deletion of <=200bp GT - upstream_gene_variant SKCA-BR 16 603337 603337 single base substitution A C intron_variant SKCA-BR 16 603337 603337 single base substitution A C splice_acceptor_variant SKCA-BR 16 603775 603775 single base substitution A C 3_prime_UTR_variant SKCA-BR 16 603775 603775 single base substitution A C exon_variant SKCA-BR 16 603775 603775 single base substitution A C intron_variant SKCA-BR 16 606736 606736 single base substitution T C downstream_gene_variant SKCA-BR 16 607017 607017 single base substitution C T downstream_gene_variant SKCA-BR 16 607864 607864 single base substitution C T downstream_gene_variant SKCA-BR 16 607865 607865 single base substitution C T downstream_gene_variant SKCA-BR 16 608383 608383 single base substitution C T downstream_gene_variant SKCA-BR 16 609046 609046 single base substitution C T downstream_gene_variant SKCA-BR 16 609382 609382 single base substitution T G downstream_gene_variant SKCM-US 16 596994 596994 single base substitution C T intron_variant SKCM-US 16 596994 596994 single base substitution C T synonymous_variant R52R 156C>T SKCM-US 16 597654 597654 single base substitution G A 5_prime_UTR_variant SKCM-US 16 597654 597654 single base substitution G A downstream_gene_variant SKCM-US 16 597654 597654 single base substitution G A synonymous_variant R272R 816G>A SKCM-US 16 597654 597654 single base substitution G A upstream_gene_variant SKCM-US 16 597758 597758 single base substitution C G 5_prime_UTR_variant SKCM-US 16 597758 597758 single base substitution C G downstream_gene_variant SKCM-US 16 597758 597758 single base substitution C G missense_variant T307S 920C>G SKCM-US 16 597758 597758 single base substitution C G upstream_gene_variant SKCM-US 16 598008 598008 single base substitution C T downstream_gene_variant SKCM-US 16 598008 598008 single base substitution C T missense_variant P46S 136C>T SKCM-US 16 598008 598008 single base substitution C T synonymous_variant S390S 1170C>T SKCM-US 16 598008 598008 single base substitution C T upstream_gene_variant SKCM-US 16 599095 599095 single base substitution C T downstream_gene_variant SKCM-US 16 599095 599095 single base substitution C T missense_variant P518S 1552C>T SKCM-US 16 599095 599095 single base substitution C T upstream_gene_variant SKCM-US 16 601380 601380 single base substitution C T downstream_gene_variant SKCM-US 16 601380 601380 single base substitution C T synonymous_variant P715P 2145C>T SKCM-US 16 601380 601380 single base substitution C T upstream_gene_variant SKCM-US 16 601394 601394 single base substitution C T downstream_gene_variant SKCM-US 16 601394 601394 single base substitution C T missense_variant S720F 2159C>T SKCM-US 16 601394 601394 single base substitution C T upstream_gene_variant STAD-US 16 597450 597450 deletion of <=200bp C - downstream_gene_variant STAD-US 16 597450 597450 deletion of <=200bp C - frameshift_variant L204 STAD-US 16 597450 597450 deletion of <=200bp C - intron_variant STAD-US 16 597450 597450 deletion of <=200bp C - upstream_gene_variant STAD-US 16 597592 597592 insertion of <=200bp - C 5_prime_UTR_variant STAD-US 16 597592 597592 insertion of <=200bp - C downstream_gene_variant STAD-US 16 597592 597592 insertion of <=200bp - C frameshift_variant P252P? STAD-US 16 597592 597592 insertion of <=200bp - C upstream_gene_variant STAD-US 16 597774 597774 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 16 597774 597774 single base substitution C T downstream_gene_variant STAD-US 16 597774 597774 single base substitution C T synonymous_variant A312A 936C>T STAD-US 16 597774 597774 single base substitution C T upstream_gene_variant STAD-US 16 599089 599089 single base substitution C T downstream_gene_variant STAD-US 16 599089 599089 single base substitution C T synonymous_variant L516L 1546C>T STAD-US 16 599089 599089 single base substitution C T upstream_gene_variant STAD-US 16 601555 601555 single base substitution G A downstream_gene_variant STAD-US 16 601555 601555 single base substitution G A missense_variant G746S 2236G>A STAD-US 16 601555 601555 single base substitution G A upstream_gene_variant STAD-US 16 601649 601649 single base substitution A G downstream_gene_variant STAD-US 16 601649 601649 single base substitution A G missense_variant Y777C 2330A>G STAD-US 16 601649 601649 single base substitution A G upstream_gene_variant STAD-US 16 602866 602866 single base substitution C T downstream_gene_variant STAD-US 16 602866 602866 single base substitution C T exon_variant STAD-US 16 602866 602866 single base substitution C T missense_variant R7C 19C>T STAD-US 16 602866 602866 single base substitution C T missense_variant R970C 2908C>T STAD-US 16 603450 603450 single base substitution C T exon_variant STAD-US 16 603450 603450 single base substitution C T intron_variant STAD-US 16 603450 603450 single base substitution C T synonymous_variant S1065S 3195C>T STAD-US 16 603483 603483 single base substitution G T exon_variant STAD-US 16 603483 603483 single base substitution G T intron_variant STAD-US 16 603483 603483 single base substitution G T missense_variant E1076D 3228G>T THCA-SA 16 597625 597625 single base substitution G T 5_prime_UTR_variant THCA-SA 16 597625 597625 single base substitution G T downstream_gene_variant THCA-SA 16 597625 597625 single base substitution G T missense_variant A263S 787G>T THCA-SA 16 597625 597625 single base substitution G T upstream_gene_variant THCA-SA 16 599436 599436 deletion of <=200bp C - downstream_gene_variant THCA-SA 16 599436 599436 deletion of <=200bp C - frameshift_variant P603 THCA-SA 16 599436 599436 deletion of <=200bp C - upstream_gene_variant THCA-US 16 601310 601310 single base substitution T C downstream_gene_variant THCA-US 16 601310 601310 single base substitution T C missense_variant M692T 2075T>C THCA-US 16 601310 601310 single base substitution T C upstream_gene_variant UCEC-US 16 601518 601518 single base substitution G A downstream_gene_variant UCEC-US 16 601518 601518 single base substitution G A synonymous_variant L733L 2199G>A UCEC-US 16 601518 601518 single base substitution G A upstream_gene_variant UCEC-US 16 602430 602430 single base substitution C T downstream_gene_variant UCEC-US 16 602430 602430 single base substitution C T exon_variant UCEC-US 16 602430 602430 single base substitution C T synonymous_variant F879F 2637C>T UCEC-US 16 602430 602430 single base substitution C T upstream_gene_variant UCEC-US 16 602700 602700 deletion of <=200bp G - downstream_gene_variant UCEC-US 16 602700 602700 deletion of <=200bp G - exon_variant UCEC-US 16 602700 602700 deletion of <=200bp G - frameshift_variant V945 UCEC-US 16 602700 602700 deletion of <=200bp G - upstream_gene_variant UCEC-US 16 603375 603375 single base substitution C T exon_variant UCEC-US 16 603375 603375 single base substitution C T intron_variant UCEC-US 16 603375 603375 single base substitution C T synonymous_variant N1040N 3120C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LP6007398-DNA_A01 COSM3402400 c.2295G>A p.P765P Substitution - coding silent 16:551614-551614 + TCGA-A7-A26F-01 COSM3818204 c.370G>T p.E124* Substitution - Nonsense 16:547208-547208 + ESCC_BICR_060T COSM5434936 c.1772G>T p.G591V Substitution - Missense 16:549401-549401 + SC_9046 COSM5556201 c.2943T>A p.G981G Substitution - coding silent 16:552901-552901 + CX-1 COSM4611563 c.371_376delAGGACA p.K126_D127delKD Deletion - In frame 16:547209-547214 + T3535 COSM4728971 c.1487G>T p.G496V Substitution - Missense 16:549030-549030 + TCGA-06-2559 COSM164524 c.3204C>T p.T1068T Substitution - coding silent 16:553459-553459 + TCGA-EB-A5SG-06 COSM3888725 c.2159C>T p.S720F Substitution - Missense 16:551394-551394 + HT115 COSM4638197 c.2483T>C p.F828S Substitution - Missense 16:552188-552188 + ML_79_T_01 COSM5038505 c.3084-2A>C p.? Unknown 16:553337-553337 + CSCC-44-T COSM4487473 c.3194C>T p.S1065F Substitution - Missense 16:553449-553449 + CN-AML-CR-44-Dx COSM3754961 c.2313T>C p.G771G Substitution - coding silent 16:551632-551632 + TCGA-AA-3660-01 COSM1378415 c.3160G>A p.A1054T Substitution - Missense 16:553415-553415 + CX-1 COSM4621614 c.274G>A p.A92T Substitution - Missense 16:547112-547112 + B70-Tumor COSM1749651 c.2299G>A p.G767S Substitution - Missense 16:551618-551618 + PTC-70C COSM4129162 c.3216A>G p.P1072P Substitution - coding silent 16:553471-553471 + TCGA-AA-3713-01 COSM435473 c.2520C>A p.A840A Substitution - coding silent 16:552313-552313 + T3064 COSM4728973 c.2282G>A p.G761D Substitution - Missense 16:551601-551601 + S0067 COSM5882740 c.554C>T p.P185L Substitution - Missense 16:547392-547392 + BD152T COSM5507038 c.2507+6T>A p.? Unknown 16:552218-552218 + TCGA-AG-3591-01 COSM435473 c.2520C>A p.A840A Substitution - coding silent 16:552313-552313 + TCGA-41-3393-01 COSM3402400 c.2295G>A p.P765P Substitution - coding silent 16:551614-551614 + TCGA-FW-A3R5-06 COSM3888725 c.2159C>T p.S720F Substitution - Missense 16:551394-551394 + T473 COSM4728969 c.1300G>A p.A434T Substitution - Missense 16:548138-548138 + TCGA-34-2600-01 COSM703984 c.2236G>A p.G746S Substitution - Missense 16:551555-551555 + KM12 COSM4612754 c.636delC p.P214fs*73 Deletion - Frameshift 16:547474-547474 + tumor_4160468 COSM3356844 c.1176C>T p.C392C Substitution - coding silent 16:548014-548014 + Pat_37_B COSM5851154 c.2279G>A p.R760H Substitution - Missense 16:551598-551598 + WA49 COSM238219 c.1086C>T p.A362A Substitution - coding silent 16:547924-547924 + HCC57 COSM1609466 c.2508-3C>T p.? Unknown 16:552298-552298 + TCGA-06-2559-01 COSM164524 c.3204C>T p.T1068T Substitution - coding silent 16:553459-553459 + TCGA-FW-A3R5-06 COSM3888724 c.2145C>T p.P715P Substitution - coding silent 16:551380-551380 + TCGA-EI-6507-01 COSM1563074 c.925C>A p.R309S Substitution - Missense 16:547763-547763 + BD8T COSM5499588 c.2669A>T p.E890V Substitution - Missense 16:552462-552462 + OSCC-GB_01090111 COSM4886291 c.2091C>A p.G697G Substitution - coding silent 16:551326-551326 + TCGA-F4-6463-01 COSM435473 c.2520C>A p.A840A Substitution - coding silent 16:552313-552313 + 384 COSM4426766 c.1864G>A p.V622M Substitution - Missense 16:549636-549636 + LUAD-CHTN-3090346 COSM356801 c.2998G>A p.V1000M Substitution - Missense 16:552956-552956 + Pat_45_A COSM5851149 c.622G>A p.G208S Substitution - Missense 16:547460-547460 + 61 COSM5740494 c.746G>A p.R249H Substitution - Missense 16:547584-547584 + HN_0-046 COSM121925 c.609C>T p.G203G Substitution - coding silent 16:547447-547447 + CHC258T COSM3667875 c.2643C>A p.S881R Substitution - Missense 16:552436-552436 + TCGA-CI-6624-01 COSM3421066 c.519G>A p.S173S Substitution - coding silent 16:547357-547357 + TCGA-66-2786-01 COSM703982 c.3082A>T p.R1028W Substitution - Missense 16:553040-553040 + PCSI_0281_Pa_P_526 COSM3787191 c.2028C>G p.D676E Substitution - Missense 16:549800-549800 + ZZUFHECRKL-G040T COSM5431090 c.1522G>T p.V508L Substitution - Missense 16:549065-549065 + SC_9061 COSM5546696 c.1139_1162del24 p.H380_K388>Q Complex - deletion inframe 16:547977-548000 + TCGA-A6-6781-01 COSM1378365 c.1188C>T p.C396C Substitution - coding silent 16:548026-548026 + T98G COSM5712702 c.984C>A p.T328T Substitution - coding silent 16:547822-547822 + TCGA-22-1012-01 COSM703985 c.937G>A p.G313S Substitution - Missense 16:547775-547775 + TCGA-EB-A5UL-06 COSM3510682 c.920C>G p.T307S Substitution - Missense 16:547758-547758 + LUAD-RT-S01831 COSM384298 c.2269G>T p.G757W Substitution - Missense 16:551588-551588 + CHC301T COSM3667874 c.221C>T p.A74V Substitution - Missense 16:547059-547059 + 449 COSM4435411 c.2580C>T p.G860G Substitution - coding silent 16:552373-552373 + 2492720 COSM5722360 c.1508C>T p.P503L Substitution - Missense 16:549051-549051 + TCGA-CI-6620-01 COSM435473 c.2520C>A p.A840A Substitution - coding silent 16:552313-552313 + CSCC-27-T COSM4546759 c.406G>A p.E136K Substitution - Missense 16:547244-547244 + Pat_73_A COSM5851153 c.2201G>A p.R734Q Substitution - Missense 16:551520-551520 + B74-Tumor COSM3932374 c.1515T>G p.G505G Substitution - coding silent 16:549058-549058 + I2L-P19Ta-Tumor-Organoid COSM4805631 c.853C>T p.R285C Substitution - Missense 16:547691-547691 + ESO-859 COSM1240279 c.2625G>A p.A875A Substitution - coding silent 16:552418-552418 + CHC1704T COSM4803895 c.2781G>A p.P927P Substitution - coding silent 16:552648-552648 + TCGA-F4-6854-01 COSM3691076 c.412G>A p.E138K Substitution - Missense 16:547250-547250 + TCGA-BR-8361-01 COSM4061591 c.3195C>T p.S1065S Substitution - coding silent 16:553450-553450 + CHC1743T COSM4805631 c.853C>T p.R285C Substitution - Missense 16:547691-547691 + B70 COSM1749651 c.2299G>A p.G767S Substitution - Missense 16:551618-551618 + TCGA-B0-5119-01 COSM3361830 c.2103G>A p.M701I Substitution - Missense 16:551338-551338 + TCGA-AZ-5407-01 COSM435473 c.2520C>A p.A840A Substitution - coding silent 16:552313-552313 + TCGA-IA-A40Y-01 COSM3988562 c.1451A>G p.N484S Substitution - Missense 16:548994-548994 + T1154 COSM4728975 c.2695A>G p.N899D Substitution - Missense 16:552488-552488 + LUAD-S00488 COSM395028 c.1108G>A p.G370S Substitution - Missense 16:547946-547946 + B5-Tumor COSM3932374 c.1515T>G p.G505G Substitution - coding silent 16:549058-549058 + SW48 COSM4615944 c.382_384delGAG p.E130delE Deletion - In frame 16:547220-547222 + TCGA-AH-6644-01 COSM1563073 c.1146C>T p.P382P Substitution - coding silent 16:547984-547984 + PD11367a COSM5772997 c.912G>C p.E304D Substitution - Missense 16:547750-547750 + TCGA-FG-8191-01 COSM3969624 c.1230C>T p.P410P Substitution - coding silent 16:548068-548068 + TCGA-66-2742-01 COSM703981 c.3155G>A p.R1052H Substitution - Missense 16:553410-553410 + CSCC-55-T COSM4481861 c.2550C>T p.I850I Substitution - coding silent 16:552343-552343 + CHC889T COSM4954442 c.2968G>T p.E990* Substitution - Nonsense 16:552926-552926 + 61 COSM5740493 c.472C>T p.P158S Substitution - Missense 16:547310-547310 + TCGA-D1-A177-01 COSM972075 c.2833delG p.V945fs*29 Deletion - Frameshift 16:552700-552700 + 8058333 COSM3387515 c.1404C>T p.G468G Substitution - coding silent 16:548242-548242 + TCGA-G4-6302-01 COSM435473 c.2520C>A p.A840A Substitution - coding silent 16:552313-552313 + TCGA-FW-A3R5-06 COSM3888723 c.1170C>T p.S390S Substitution - coding silent 16:548008-548008 + TCGA-J9-A52C-01 COSM4877528 c.2620C>T p.R874C Substitution - Missense 16:552413-552413 + 2492722 COSM5722360 c.1508C>T p.P503L Substitution - Missense 16:549051-549051 + I2L-P19Ta-Tumor-Biopsy COSM4805631 c.853C>T p.R285C Substitution - Missense 16:547691-547691 + ESO-2143 COSM1266418 c.1971G>C p.E657D Substitution - Missense 16:549743-549743 + TCGA-AO-A128-01 COSM3818206 c.1588A>G p.R530G Substitution - Missense 16:549131-549131 + TCGA-F1-6874-01 COSM703984 c.2236G>A p.G746S Substitution - Missense 16:551555-551555 + TCGA-EL-A3ZT-01 COSM3370485 c.2075T>C p.M692T Substitution - Missense 16:551310-551310 + PTC-50C COSM4129160 c.597G>A p.A199A Substitution - coding silent 16:547435-547435 + TCGA-G4-6298-01 COSM3691078 c.2718G>C p.P906P Substitution - coding silent 16:552511-552511 + HT29 COSM4611563 c.371_376delAGGACA p.K126_D127delKD Deletion - In frame 16:547209-547214 + 2_PRE-TREATMENT COSM1722721 c.1097C>T p.S366F Substitution - Missense 16:547935-547935 + YUPAER COSM5385099 c.2475G>T p.S825S Substitution - coding silent 16:552180-552180 + CHC2128T COSM4956840 c.942C>A p.S314R Substitution - Missense 16:547780-547780 + 49M COSM2993084 c.2117C>T p.S706L Substitution - Missense 16:551352-551352 + ESCC_11 COSM5624312 c.2975G>A p.R992Q Substitution - Missense 16:552933-552933 + TCGA-BH-A0B6-01 COSM3818207 c.1608C>T p.F536F Substitution - coding silent 16:549151-549151 + CHC889T COSM4954442 c.2968G>T p.E990* Substitution - Nonsense 16:552926-552926 + T2197 COSM4728976 c.3142C>T p.R1048C Substitution - Missense 16:553397-553397 + TCGA-HU-A4GU-01 COSM4061588 c.1546C>T p.L516L Substitution - coding silent 16:549089-549089 + ICC013T COSM5814195 c.1921G>T p.A641S Substitution - Missense 16:549693-549693 + LUAD-RT-S01487 COSM377877 c.2213C>T p.P738L Substitution - Missense 16:551532-551532 + CHC902T COSM3421065 c.391A>G p.K131E Substitution - Missense 16:547229-547229 + Pat_32_A COSM5851151 c.1492G>A p.E498K Substitution - Missense 16:549035-549035 + S02242 COSM5677175 c.1123G>T p.G375C Substitution - Missense 16:547961-547961 + TCGA-EI-6882-01 COSM3421067 c.1485C>T p.P495P Substitution - coding silent 16:549028-549028 + PTC-7C COSM4129161 c.994A>C p.T332P Substitution - Missense 16:547832-547832 + CSCC-27-T COSM4502485 c.614C>T p.P205L Substitution - Missense 16:547452-547452 + TCGA-F5-6702-01 COSM435473 c.2520C>A p.A840A Substitution - coding silent 16:552313-552313 + J30_T COSM3957690 c.310G>T p.E104* Substitution - Nonsense 16:547148-547148 + TCGA-DD-A4NF-01 COSM4912638 c.2141G>A p.R714H Substitution - Missense 16:551376-551376 + SW48 COSM4656213 c.265A>G p.K89E Substitution - Missense 16:547103-547103 + CSCC-20-T COSM4481514 c.2517C>T p.D839D Substitution - coding silent 16:552310-552310 + TCGA-A3-3320-01 COSM1135802 c.71C>A p.S24Y Substitution - Missense 16:546909-546909 + TCGA-CK-4950-01 COSM435473 c.2520C>A p.A840A Substitution - coding silent 16:552313-552313 + TCGA-AF-2693-01 COSM435473 c.2520C>A p.A840A Substitution - coding silent 16:552313-552313 + TCGA-C5-A7UE-01 COSM4856462 c.51G>T p.P17P Substitution - coding silent 16:546889-546889 + CHC1743T COSM4805631 c.853C>T p.R285C Substitution - Missense 16:547691-547691 + 1517_CLM COSM5754883 c.1220G>A p.R407H Substitution - Missense 16:548058-548058 + HCC57T COSM1609466 c.2508-3C>T p.? Unknown 16:552298-552298 + TCGA-EB-A41A-01 COSM3510683 c.1552C>T p.P518S Substitution - Missense 16:549095-549095 + SK-MEL-5 COSM1678732 c.2703G>A p.W901* Substitution - Nonsense 16:552496-552496 + sysucc-1213T COSM5764326 c.2605C>G p.L869V Substitution - Missense 16:552398-552398 + TCGA-A6-5667-01 COSM435473 c.2520C>A p.A840A Substitution - coding silent 16:552313-552313 + YUPROST COSM1708600 c.3076C>G p.L1026V Substitution - Missense 16:553034-553034 + CSCC-31-T COSM4564828 c.1486_1487GG>AA p.G496K Substitution - Missense 16:549029-549030 + TCGA-G4-6298-01 COSM3691077 c.2709G>T p.P903P Substitution - coding silent 16:552502-552502 + BD228T COSM5508752 c.2769C>G p.A923A Substitution - coding silent 16:552636-552636 + TCGA-EE-A2GB-06 COSM3510681 c.816G>A p.R272R Substitution - coding silent 16:547654-547654 + I2L-P7-Tumor-Organoid COSM5363656 c.1539G>A p.R513R Substitution - coding silent 16:549082-549082 + OSCC-GB_00500111 COSM3712054 c.1510G>T p.A504S Substitution - Missense 16:549053-549053 + sysucc-1317T COSM1609466 c.2508-3C>T p.? Unknown 16:552298-552298 + AOCS-155-3-5 COSM3948610 c.1166C>A p.P389H Substitution - Missense 16:548004-548004 + 107542 COSM96210 c.45G>A p.L15L Substitution - coding silent 16:546883-546883 + TCGA-AP-A0LM-01 COSM972074 c.2637C>T p.F879F Substitution - coding silent 16:552430-552430 + Detroit_562 COSM1378414 c.3070_3083+22del36 p.? Unknown 16:553028-553063 + TCGA-D1-A15X-01 COSM972076 c.3120C>T p.N1040N Substitution - coding silent 16:553375-553375 + Pat_24_A COSM5851152 c.1507C>T p.P503S Substitution - Missense 16:549050-549050 + TCGA-C4-A0F1-01 COSM416951 c.2316C>T p.V772V Substitution - coding silent 16:551635-551635 + TCGA-AZ-6598-01 COSM1378366 c.1589G>T p.R530M Substitution - Missense 16:549132-549132 + PCSI_0467_Pa_P_526 COSM4807227 c.445T>A p.C149S Substitution - Missense 16:547283-547283 + pfg017T COSM1640513 c.666C>T p.A222A Substitution - coding silent 16:547504-547504 + T3021 COSM4728972 c.1905C>G p.S635S Substitution - coding silent 16:549677-549677 + MedB-1 COSM5621883 c.1769A>G p.D590G Substitution - Missense 16:549398-549398 + HCA7 COSM4630231 c.373G>T p.D125Y Substitution - Missense 16:547211-547211 + TCGA-AZ-5407-01 COSM3754961 c.2313T>C p.G771G Substitution - coding silent 16:551632-551632 + RK195_C01 COSM3741962 c.2418C>T p.P806P Substitution - coding silent 16:552123-552123 + EGC15 COSM4877528 c.2620C>T p.R874C Substitution - Missense 16:552413-552413 + DLD1 COSM1678731 c.2147G>A p.R716Q Substitution - Missense 16:551382-551382 + CHC902T COSM3421065 c.391A>G p.K131E Substitution - Missense 16:547229-547229 + CHC258T COSM3667875 c.2643C>A p.S881R Substitution - Missense 16:552436-552436 + TCGA-BR-4361-01 COSM4061589 c.2330A>G p.Y777C Substitution - Missense 16:551649-551649 + S00539 COSM5658754 c.2878A>T p.T960S Substitution - Missense 16:552745-552745 + OCC06PT COSM88726 c.1489delC p.E498fs*15 Deletion - Frameshift 16:549032-549032 + HCC111T COSM1609467 c.2691C>T p.A897A Substitution - coding silent 16:552484-552484 + HCT-15 COSM1678731 c.2147G>A p.R716Q Substitution - Missense 16:551382-551382 + HCT15 COSM4632701 c.2904G>T p.E968D Substitution - Missense 16:552771-552771 + 2492721 COSM5722360 c.1508C>T p.P503L Substitution - Missense 16:549051-549051 + 49M COSM5593224 c.319C>T p.P107S Substitution - Missense 16:547157-547157 + OSCC-GB_00600111 COSM4890235 c.69C>A p.C23* Substitution - Nonsense 16:546907-546907 + T3152 COSM4728977 c.3210delC p.P1072fs*>15 Deletion - Frameshift 16:553465-553465 + TCGA-F5-6571-01 COSM435473 c.2520C>A p.A840A Substitution - coding silent 16:552313-552313 + T3021 COSM4728974 c.2575A>G p.S859G Substitution - Missense 16:552368-552368 + TCGA-CK-4952-01 COSM435473 c.2520C>A p.A840A Substitution - coding silent 16:552313-552313 + BD236T COSM5519347 c.127G>A p.V43M Substitution - Missense 16:546965-546965 + TCGA-BR-6452-01 COSM4061587 c.936C>T p.A312A Substitution - coding silent 16:547774-547774 + 2492723 COSM5722360 c.1508C>T p.P503L Substitution - Missense 16:549051-549051 + CHC889T COSM4954455 c.2967G>T p.V989V Substitution - coding silent 16:552925-552925 + HGPIN43 COSM5415502 c.1481C>T p.P494L Substitution - Missense 16:549024-549024 + T368 COSM4728968 c.753_754insC p.Q254fs*8 Insertion - Frameshift 16:547591-547592 + TCGA-AF-6672-01 COSM3421068 c.2487G>A p.A829A Substitution - coding silent 16:552192-552192 + TCGA-AH-6644-01 COSM435473 c.2520C>A p.A840A Substitution - coding silent 16:552313-552313 + HCC111 COSM1609467 c.2691C>T p.A897A Substitution - coding silent 16:552484-552484 + 2_RESISTANT COSM1722721 c.1097C>T p.S366F Substitution - Missense 16:547935-547935 + LUAD-S01357 COSM386705 c.2265G>T p.W755C Substitution - Missense 16:551584-551584 + TCGA-EV-5903-01 COSM3988563 c.1487G>A p.G496E Substitution - Missense 16:549030-549030 + sysucc-880T COSM5462568 c.2358C>T p.S786S Substitution - coding silent 16:552063-552063 + PD4084a COSM164524 c.3204C>T p.T1068T Substitution - coding silent 16:553459-553459 + MO_1232 COSM5562195 c.999C>T p.P333P Substitution - coding silent 16:547837-547837 + sysucc-880T COSM5462569 c.3251G>A p.R1084Q Substitution - Missense 16:553506-553506 + TCGA-D1-A174-01 COSM972073 c.2509C>T p.R837C Substitution - Missense 16:552302-552302 + STC291 COSM5054967 c.2065delG p.F690fs*12 Deletion - Frameshift 16:549837-549837 + TCGA-JL-A3YX-01 COSM3818205 c.518C>T p.S173L Substitution - Missense 16:547356-547356 + LP6005334-DNA_E03 COSM4412884 c.408G>A p.E136E Substitution - coding silent 16:547246-547246 + ESO-717 COSM1242875 c.791A>G p.Q264R Substitution - Missense 16:547629-547629 + TCGA-BH-A1FR-01 COSM1478946 c.2945G>T p.W982L Substitution - Missense 16:552903-552903 + PCSI_0329_Pa_P_526 COSM4962483 c.2396C>T p.A799V Substitution - Missense 16:552101-552101 + TCGA-AY-6197-01 COSM435473 c.2520C>A p.A840A Substitution - coding silent 16:552313-552313 + HCT15 COSM1678731 c.2147G>A p.R716Q Substitution - Missense 16:551382-551382 + MO_1012 COSM5563041 c.2733C>T p.P911P Substitution - coding silent 16:552526-552526 + TCGA-BR-4280-01 COSM4061592 c.3228G>T p.E1076D Substitution - Missense 16:553483-553483 + CHC301T COSM3667874 c.221C>T p.A74V Substitution - Missense 16:547059-547059 + CHC2128T COSM4956840 c.942C>A p.S314R Substitution - Missense 16:547780-547780 + CHC1704T COSM4803895 c.2781G>A p.P927P Substitution - coding silent 16:552648-552648 + TCGA-EE-A2MS-06 COSM3510680 c.156C>T p.R52R Substitution - coding silent 16:546994-546994 + CHC889T COSM4954455 c.2967G>T p.V989V Substitution - coding silent 16:552925-552925 + TCGA-CC-A1HT-01 COSM4912638 c.2141G>A p.R714H Substitution - Missense 16:551376-551376 + TCGA-BS-A0T9-01 COSM972072 c.2199G>A p.L733L Substitution - coding silent 16:551518-551518 + TCGA-34-5231-01 COSM703983 c.2312G>A p.G771D Substitution - Missense 16:551631-551631 + TCGA-D7-A4YV-01 COSM4061590 c.2908C>T p.R970C Substitution - Missense 16:552866-552866 + BD72T COSM5513132 c.583G>A p.V195I Substitution - Missense 16:547421-547421 + TCGA-A6-6780-01 COSM435473 c.2520C>A p.A840A Substitution - coding silent 16:552313-552313 + HT29 COSM4621614 c.274G>A p.A92T Substitution - Missense 16:547112-547112 + T3080 COSM4728970 c.1337delG p.A448fs*4 Deletion - Frameshift 16:548175-548175 + SNU-C4 COSM4652762 c.665C>T p.A222V Substitution - Missense 16:547503-547503 + TCGA-CK-4952-01 COSM3754961 c.2313T>C p.G771G Substitution - coding silent 16:551632-551632 + BD152T COSM5507037 c.2507+5G>T p.? Unknown 16:552217-552217 + Pat_01_A COSM5851155 c.3215C>A p.P1072Q Substitution - Missense 16:553470-553470 + Pat_65_A COSM5851150 c.1262G>A p.C421Y Substitution - Missense 16:548100-548100 + ESO-143 COSM1266417 c.628G>A p.E210K Substitution - Missense 16:547466-547466 + OSCC-GB_00820111 COSM4887359 c.2361G>T p.V787V Substitution - coding silent 16:552066-552066 + YUPAER COSM5385100 c.2476C>A p.L826M Substitution - Missense 16:552181-552181 + 2249677 COSM4413309 c.2941G>A p.G981S Substitution - Missense 16:552899-552899 + 134426 COSM326538 c.2314G>T p.V772F Substitution - Missense 16:551633-551633 + PTC_285 COSM5958954 c.1807delC p.C604fs*80 Deletion - Frameshift 16:549436-549436 + Au3 COSM5602348 c.2228C>T p.S743F Substitution - Missense 16:551547-551547 + TCGA-CI-6620-01 COSM3421065 c.391A>G p.K131E Substitution - Missense 16:547229-547229 + B89-5-Tumor COSM3932374 c.1515T>G p.G505G Substitution - coding silent 16:549058-549058 + 50T COSM3712054 c.1510G>T p.A504S Substitution - Missense 16:549053-549053 + TCGA-CM-6162-01 COSM1378416 c.3231C>T p.V1077V Substitution - coding silent 16:553486-553486 + NCI-H835 COSM5368334 c.288G>T p.E96D Substitution - Missense 16:547126-547126 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.632219 16p13.3 603267

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - ACGTCGTCG IntronicInsertion . c.1-2109_1-2108insACGTCGTCG 16 594730 CLL AGG - InFrameDeletion p.E138delE c.413_415delAGG 16 597239 THCA A G Missense p.I322V c.964A>G 16 597802 STAD A T Missense p.H900L c.2699A>T 16 602492 HNSC A T Missense p.R1028W c.3082A>T 16 603040 LUSC C A Missense p.H717N c.2149C>A 16 601384 LUAD C A Missense p.S24Y c.71C>A 16 596909 RCCC C A Synonymous p.S1065S c.3195C>A 16 603450 STAD CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC - SpliceDonorDeletion . c.3083+5_3083+40delGCCCCCGCCCCTGCCCCCCCACCCCTGCACAGGTGC 16 603028 RCCC CC TT Missense p.P214L c.640_641delinsTT 16 597478 CM CC TT Missense p.P738L c.2212_2213delinsTT 16 601531 CM CC TT Missense p.P911S c.2730_2731delinsTT 16 602523 CM C - Frameshift p.E207Kfs*80 c.615delC 16 597450 STAD C T Missense p.A63V c.188C>T 16 597026 HNSC C T Missense p.P497L c.1490C>T 16 599033 CM C T Synonymous p.A222A c.666C>T 16 597504 STAD C T Synonymous p.G203G c.609C>T 16 597447 HNSC C T Synonymous p.G740G c.2220C>T 16 601539 CM C T Synonymous p.R52R c.156C>T 16 596994 CM C T Synonymous p.T1068T c.3204C>T 16 603459 BRCA C T Synonymous p.T1068T c.3204C>T 16 603459 GBM C T Synonymous p.V772V c.2316C>T 16 601635 BLCA G A IntronicSNV . c.1-3292G>A 16 593547 CLL G A Missense p.E210K c.628G>A 16 597466 ESCA G A Missense p.G313S c.937G>A 16 597775 LUSC G A Missense p.G501S c.1501G>A 16 599044 HNSC G A Missense p.G746S c.2236G>A 16 601555 LUSC G A Missense p.G746S c.2236G>A 16 601555 STAD G A Missense p.G771D c.2312G>A 16 601631 LUSC G A Missense p.M701I c.2103G>A 16 601338 RCCC G A Missense p.R1052H c.3155G>A 16 603410 LUSC G A Missense p.R330H c.989G>A 16 597827 STAD G A Missense p.R52H c.155G>A 16 596993 HNSC G A Synonymous p.L733L c.2199G>A 16 601518 UCEC G A Synonymous p.R272R c.816G>A 16 597654 CM G C Missense p.E657D c.1971G>C 16 599743 ESCA G - Frameshift p.P928Rfs*46 c.2781delG 16 602648 PRAD G - Frameshift p.V945Wfs*29 c.2833delG 16 602700 UCEC G T Missense p.E1076D c.3228G>T 16 603483 STAD G T Missense p.V772F c.2314G>T 16 601633 SCLC G T Missense p.W744C c.2232G>T 16 601551 STAD G T Missense p.W982L c.2945G>T 16 602903 BRCA T - IntronicDeletion . c.1-7880delT 16 588947 STAD T - IntronicDeletion . c.1-8534delT 16 588295 RCCC - T IntronicInsertion . c.2067-567dupT 16 600734 CM