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 BLCA 6 147525680 147525680 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr6:147525680C>T c.12C>T c.(10-12)ttC>ttT p.F4F BLCA 6 147525746 147525746 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr6:147525746G>A c.78G>A c.(76-78)caG>caA p.Q26Q BLCA 6 147527160 147527160 + Silent SNP A A G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 g.chr6:147527160A>G c.204A>G c.(202-204)gtA>gtG p.V68V BLCA 6 147560375 147560375 + Missense_Mutation SNP A A G TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 g.chr6:147560375A>G c.400A>G c.(400-402)Ata>Gta p.I134V BLCA 6 147636695 147636695 + Missense_Mutation SNP G G C TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr6:147636695G>C c.1447G>C c.(1447-1449)Gaa>Caa p.E483Q BLCA 6 147636838 147636838 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr6:147636838C>T c.1590C>T c.(1588-1590)ttC>ttT p.F530F BLCA 6 147637507 147637507 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr6:147637507C>T c.1766C>T c.(1765-1767)tCa>tTa p.S589L BLCA 6 147648324 147648324 + Silent SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr6:147648324C>G c.1992C>G c.(1990-1992)ctC>ctG p.L664L BLCA 6 147648368 147648368 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr6:147648368G>A c.2036G>A c.(2035-2037)cGg>cAg p.R679Q BLCA 6 147648378 147648378 + Silent SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 g.chr6:147648378C>T c.2046C>T c.(2044-2046)ccC>ccT p.P682P BLCA 6 147684703 147684703 + Silent SNP C C T TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr6:147684703C>T c.2778C>T c.(2776-2778)atC>atT p.I926I BLCA 6 147694884 147694884 + Silent SNP C C G TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr6:147694884C>G c.3099C>G c.(3097-3099)ctC>ctG p.L1033L BLCA 6 147703994 147703994 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr6:147703994G>C c.3274G>C c.(3274-3276)Ggg>Cgg p.G1092R BLCA 6 147704100 147704100 + Nonsense_Mutation SNP C C G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 g.chr6:147704100C>G c.3380C>G c.(3379-3381)tCa>tGa p.S1127* BRCA 6 147525812 147525812 + Silent SNP C C T TCGA-AR-A2LE-01A-11D-A17W-09 TCGA-AR-A2LE-10A-01D-A17W-09 g.chr6:147525812C>T c.144C>T c.(142-144)ctC>ctT p.L48L BRCA 6 147556463 147556463 + Missense_Mutation SNP A A G TCGA-C8-A134-01A-11D-A10Y-09 TCGA-C8-A134-10A-01D-A110-09 g.chr6:147556463A>G c.326A>G c.(325-327)aAt>aGt p.N109S BRCA 6 147581807 147581807 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr6:147581807G>A c.488G>A c.(487-489)cGa>cAa p.R163Q BRCA 6 147636833 147636833 + Silent SNP A A C TCGA-AR-A256-01A-11D-A167-09 TCGA-AR-A256-10A-01D-A167-09 g.chr6:147636833A>C c.1585A>C c.(1585-1587)Aga>Cga p.R529R BRCA 6 147655358 147655358 + Splice_Site SNP G G C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 g.chr6:147655358G>C c.2146G>C c.(2146-2148)Ggt>Cgt p.G716R BRCA 6 147660341 147660341 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr6:147660341G>A c.2173G>A c.(2173-2175)Gat>Aat p.D725N BRCA 6 147680336 147680336 + Missense_Mutation SNP G G A TCGA-AO-A0J4-01A-11W-A050-09 TCGA-AO-A0J4-10A-01W-A055-09 g.chr6:147680336G>A c.2422G>A c.(2422-2424)Gac>Aac p.D808N BRCA 6 147684477 147684477 + Missense_Mutation SNP T T A TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 g.chr6:147684477T>A c.2552T>A c.(2551-2553)aTa>aAa p.I851K BRCA 6 147684707 147684707 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr6:147684707C>T c.2782C>T c.(2782-2784)Ctg>Ttg p.L928L BRCA 6 147684754 147684754 + Silent SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr6:147684754G>C c.2829G>C c.(2827-2829)tcG>tcC p.S943S BRCA 6 147703925 147703926 + Frame_Shift_Ins INS - - A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 g.chr6:147703925_147703926insA c.3205_3206insA c.(3205-3207)tccfs p.S1069fs CESC 6 147525730 147525730 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr6:147525730C>T c.62C>T c.(61-63)tCg>tTg p.S21L CESC 6 147635411 147635411 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr6:147635411C>T c.1305C>T c.(1303-1305)atC>atT p.I435I CESC 6 147660514 147660514 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr6:147660514G>C c.2248G>C c.(2248-2250)Gat>Cat p.D750H CESC 6 147680232 147680232 + Missense_Mutation SNP A A G TCGA-HG-A2PA-01A-11D-A20U-09 TCGA-HG-A2PA-10B-01D-A20U-09 g.chr6:147680232A>G c.2318A>G c.(2317-2319)aAc>aGc p.N773S CHOL 6 147648314 147648314 + Missense_Mutation SNP C C T TCGA-W5-AA2H-01A-31D-A417-09 TCGA-W5-AA2H-10A-01D-A41A-09 g.chr6:147648314C>T c.1982C>T c.(1981-1983)gCa>gTa p.A661V COAD 6 147525743 147525743 + Silent SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr6:147525743G>A c.75G>A c.(73-75)caG>caA p.Q25Q COAD 6 147560357 147560357 + Missense_Mutation SNP C C T TCGA-D5-6898-01A-11D-1924-10 TCGA-D5-6898-10A-01D-1924-10 g.chr6:147560357C>T c.382C>T c.(382-384)Cgt>Tgt p.R128C COAD 6 147588258 147588258 + Missense_Mutation SNP G G T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr6:147588258G>T c.669G>T c.(667-669)tgG>tgT p.W223C COAD 6 147635081 147635081 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:147635081G>A c.1207G>A c.(1207-1209)Gaa>Aaa p.E403K COAD 6 147648354 147648354 + Silent SNP T T G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr6:147648354T>G c.2022T>G c.(2020-2022)tcT>tcG p.S674S COAD 6 147655316 147655316 + Missense_Mutation SNP G G T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr6:147655316G>T c.2104G>T c.(2104-2106)Ggg>Tgg p.G702W COAD 6 147660522 147660522 + Splice_Site SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr6:147660522T>C c.e21+2 COAD 6 147680300 147680300 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:147680300G>A c.2386G>A c.(2386-2388)Gct>Act p.A796T COAD 6 147680334 147680334 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr6:147680334C>T c.2420C>T c.(2419-2421)aCg>aTg p.T807M COAD 6 147684799 147684799 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:147684799C>T c.2874C>T c.(2872-2874)tgC>tgT p.C958C COAD 6 147704027 147704027 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:147704027C>T c.3307C>T c.(3307-3309)Cga>Tga p.R1103* COADREAD 6 147525743 147525743 + Silent SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr6:147525743G>A c.75G>A c.(73-75)caG>caA p.Q25Q COADREAD 6 147560357 147560357 + Missense_Mutation SNP C C T TCGA-D5-6898-01A-11D-1924-10 TCGA-D5-6898-10A-01D-1924-10 g.chr6:147560357C>T c.382C>T c.(382-384)Cgt>Tgt p.R128C COADREAD 6 147560406 147560406 + Splice_Site SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:147560406G>T c.431G>T c.(430-432)aGg>aTg p.R144M COADREAD 6 147583481 147583481 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:147583481G>A c.622G>A c.(622-624)Gag>Aag p.E208K COADREAD 6 147588258 147588258 + Missense_Mutation SNP G G T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr6:147588258G>T c.669G>T c.(667-669)tgG>tgT p.W223C COADREAD 6 147631344 147631344 + Missense_Mutation SNP C C G TCGA-AF-6672-01A-11D-1826-10 TCGA-AF-6672-10A-01D-1826-10 g.chr6:147631344C>G c.1042C>G c.(1042-1044)Cta>Gta p.L348V COADREAD 6 147632635 147632635 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:147632635T>G c.1117T>G c.(1117-1119)Tta>Gta p.L373V COADREAD 6 147635081 147635081 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:147635081G>A c.1207G>A c.(1207-1209)Gaa>Aaa p.E403K COADREAD 6 147648354 147648354 + Silent SNP T T G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr6:147648354T>G c.2022T>G c.(2020-2022)tcT>tcG p.S674S COADREAD 6 147655316 147655316 + Missense_Mutation SNP G G T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr6:147655316G>T c.2104G>T c.(2104-2106)Ggg>Tgg p.G702W COADREAD 6 147660522 147660522 + Splice_Site SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr6:147660522T>C c.e21+2 COADREAD 6 147680300 147680300 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:147680300G>A c.2386G>A c.(2386-2388)Gct>Act p.A796T COADREAD 6 147680334 147680334 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr6:147680334C>T c.2420C>T c.(2419-2421)aCg>aTg p.T807M COADREAD 6 147684799 147684799 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:147684799C>T c.2874C>T c.(2872-2874)tgC>tgT p.C958C COADREAD 6 147704027 147704027 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:147704027C>T c.3307C>T c.(3307-3309)Cga>Tga p.R1103* DLBC 6 147612247 147612247 + Missense_Mutation SNP G G T TCGA-FF-8047-01A-11D-2210-10 TCGA-FF-8047-10A-01D-2210-10 g.chr6:147612247G>T c.856G>T c.(856-858)Ggg>Tgg p.G286W ESCA 6 147525742 147525742 + Missense_Mutation SNP A A T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 g.chr6:147525742A>T c.74A>T c.(73-75)cAg>cTg p.Q25L ESCA 6 147527120 147527120 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 g.chr6:147527120G>T c.164G>T c.(163-165)gGa>gTa p.G55V ESCA 6 147583481 147583481 + Missense_Mutation SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 g.chr6:147583481G>A c.622G>A c.(622-624)Gag>Aag p.E208K ESCA 6 147632620 147632620 + Missense_Mutation SNP C C A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 g.chr6:147632620C>A c.1102C>A c.(1102-1104)Ctt>Att p.L368I ESCA 6 147704078 147704078 + Missense_Mutation SNP G G C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 g.chr6:147704078G>C c.3358G>C c.(3358-3360)Gaa>Caa p.E1120Q ESCA 6 147704132 147704132 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 g.chr6:147704132G>A c.3412G>A c.(3412-3414)Gag>Aag p.E1138K GBM 6 147631323 147631323 + Missense_Mutation SNP G G T TCGA-14-2554-01A-01D-1494-08 TCGA-14-2554-10A-01D-1494-08 g.chr6:147631323G>T c.1021G>T c.(1021-1023)Gac>Tac p.D341Y GBM 6 147704054 147704054 + Missense_Mutation SNP G G C TCGA-76-4925-01A-01D-1486-08 TCGA-76-4925-10A-01D-1486-08 g.chr6:147704054G>C c.3334G>C c.(3334-3336)Ggg>Cgg p.G1112R GBMLGG 6 147631323 147631323 + Missense_Mutation SNP G G T TCGA-14-2554-01A-01D-1494-08 TCGA-14-2554-10A-01D-1494-08 g.chr6:147631323G>T c.1021G>T c.(1021-1023)Gac>Tac p.D341Y GBMLGG 6 147703945 147703945 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:147703945G>A c.3225G>A c.(3223-3225)agG>agA p.R1075R GBMLGG 6 147704054 147704054 + Missense_Mutation SNP G G C TCGA-76-4925-01A-01D-1486-08 TCGA-76-4925-10A-01D-1486-08 g.chr6:147704054G>C c.3334G>C c.(3334-3336)Ggg>Cgg p.G1112R HNSC 6 147525760 147525760 + Missense_Mutation SNP G G A TCGA-HD-8224-01A-11D-2394-08 TCGA-HD-8224-10A-01D-2394-08 g.chr6:147525760G>A c.92G>A c.(91-93)gGg>gAg p.G31E HNSC 6 147556394 147556394 + Missense_Mutation SNP G G A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 g.chr6:147556394G>A c.257G>A c.(256-258)cGt>cAt p.R86H HNSC 6 147635423 147635423 + Missense_Mutation SNP T T A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr6:147635423T>A c.1317T>A c.(1315-1317)aaT>aaA p.N439K HNSC 6 147648386 147648386 + Missense_Mutation SNP C C T TCGA-CV-A45V-01A-21D-A25D-08 TCGA-CV-A45V-10A-01D-A25E-08 g.chr6:147648386C>T c.2054C>T c.(2053-2055)cCt>cTt p.P685L HNSC 6 147655334 147655334 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chr6:147655334G>A c.2122G>A c.(2122-2124)Gat>Aat p.D708N HNSC 6 147684646 147684646 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr6:147684646G>A c.2721G>A c.(2719-2721)caG>caA p.Q907Q HNSC 6 147685192 147685192 + Missense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 g.chr6:147685192C>T c.2971C>T c.(2971-2973)Cgg>Tgg p.R991W HNSC 6 147685192 147685192 + Missense_Mutation SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 g.chr6:147685192C>T c.2971C>T c.(2971-2973)Cgg>Tgg p.R991W KICH 6 147527114 147527114 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr6:147527114G>A c.158G>A c.(157-159)cGc>cAc p.R53H KICH 6 147646106 147646106 + Nonsense_Mutation SNP C C A TCGA-KL-8326-01A-11D-2310-10 TCGA-KL-8326-11A-01D-2310-10 g.chr6:147646106C>A c.1814C>A c.(1813-1815)tCa>tAa p.S605* KIPAN 6 147527114 147527114 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr6:147527114G>A c.158G>A c.(157-159)cGc>cAc p.R53H KIPAN 6 147588238 147588238 + Missense_Mutation SNP T T C TCGA-B0-5709-01A-11D-1534-10 TCGA-B0-5709-11A-01D-1534-10 g.chr6:147588238T>C c.649T>C c.(649-651)Tct>Cct p.S217P KIPAN 6 147636834 147636834 + Missense_Mutation SNP G G A TCGA-Y8-A8RZ-01A-11D-A36X-10 TCGA-Y8-A8RZ-10A-01D-A370-10 g.chr6:147636834G>A c.1586G>A c.(1585-1587)aGa>aAa p.R529K KIPAN 6 147646106 147646106 + Nonsense_Mutation SNP C C A TCGA-KL-8326-01A-11D-2310-10 TCGA-KL-8326-11A-01D-2310-10 g.chr6:147646106C>A c.1814C>A c.(1813-1815)tCa>tAa p.S605* KIPAN 6 147685200 147685200 + Silent SNP C C T TCGA-B0-5120-01A-01D-1421-08 TCGA-B0-5120-11A-01D-1421-08 g.chr6:147685200C>T c.2979C>T c.(2977-2979)gcC>gcT p.A993A KIRC 6 147588238 147588238 + Missense_Mutation SNP T T C TCGA-B0-5709-01A-11D-1534-10 TCGA-B0-5709-11A-01D-1534-10 g.chr6:147588238T>C c.649T>C c.(649-651)Tct>Cct p.S217P KIRC 6 147685200 147685200 + Silent SNP C C T TCGA-B0-5120-01A-01D-1421-08 TCGA-B0-5120-11A-01D-1421-08 g.chr6:147685200C>T c.2979C>T c.(2977-2979)gcC>gcT p.A993A KIRP 6 147636834 147636834 + Missense_Mutation SNP G G A TCGA-Y8-A8RZ-01A-11D-A36X-10 TCGA-Y8-A8RZ-10A-01D-A370-10 g.chr6:147636834G>A c.1586G>A c.(1585-1587)aGa>aAa p.R529K LGG 6 147703945 147703945 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:147703945G>A c.3225G>A c.(3223-3225)agG>agA p.R1075R LIHC 6 147631274 147631274 + Silent SNP A A G TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr6:147631274A>G c.972A>G c.(970-972)agA>agG p.R324R LIHC 6 147646126 147646126 + Missense_Mutation SNP G G A TCGA-DD-AADI-01A-11D-A40R-10 TCGA-DD-AADI-10A-01D-A40U-10 g.chr6:147646126G>A c.1834G>A c.(1834-1836)Ggt>Agt p.G612S LIHC 6 147648266 147648266 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr6:147648266delT c.1934delT c.(1933-1935)gttfs p.V645fs LIHC 6 147680286 147680286 + Missense_Mutation SNP G G T TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr6:147680286G>T c.2372G>T c.(2371-2373)cGa>cTa p.R791L LIHC 6 147694876 147694876 + Missense_Mutation SNP G G A TCGA-DD-AACV-01A-11D-A40R-10 TCGA-DD-AACV-10A-01D-A40U-10 g.chr6:147694876G>A c.3091G>A c.(3091-3093)Ggt>Agt p.G1031S LIHC 6 147704135 147704135 + Splice_Site SNP G G A TCGA-NI-A8LF-01A-11D-A35Z-10 TCGA-NI-A8LF-10A-01D-A35Z-10 g.chr6:147704135G>A c.e27+1 LUAD 6 147581750 147581750 + Splice_Site SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 g.chr6:147581750G>T c.e5-1 LUAD 6 147581767 147581767 + Silent SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 g.chr6:147581767C>T c.448C>T c.(448-450)Ctg>Ttg p.L150L LUAD 6 147588246 147588246 + Silent SNP A A C TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr6:147588246A>C c.657A>C c.(655-657)acA>acC p.T219T LUAD 6 147588262 147588262 + Missense_Mutation SNP C C A TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr6:147588262C>A c.673C>A c.(673-675)Ctc>Atc p.L225I LUAD 6 147631360 147631360 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr6:147631360C>T c.1058C>T c.(1057-1059)aCa>aTa p.T353I LUAD 6 147635025 147635025 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr6:147635025C>A c.1151C>A c.(1150-1152)cCt>cAt p.P384H LUAD 6 147636782 147636782 + Missense_Mutation SNP G G C TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr6:147636782G>C c.1534G>C c.(1534-1536)Gaa>Caa p.E512Q LUAD 6 147646094 147646094 + Splice_Site SNP G G T TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr6:147646094G>T c.e17-1 LUAD 6 147680250 147680250 + Missense_Mutation SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr6:147680250G>T c.2336G>T c.(2335-2337)cGg>cTg p.R779L LUAD 6 147680251 147680251 + Silent SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr6:147680251G>T c.2337G>T c.(2335-2337)cgG>cgT p.R779R LUAD 6 147680270 147680270 + Missense_Mutation SNP A A C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr6:147680270A>C c.2356A>C c.(2356-2358)Att>Ctt p.I786L LUAD 6 147680300 147680300 + Missense_Mutation SNP G G A TCGA-78-7167-01A-11D-2063-08 TCGA-78-7167-11A-01D-2063-08 g.chr6:147680300G>A c.2386G>A c.(2386-2388)Gct>Act p.A796T LUAD 6 147680374 147680374 + Silent SNP G G T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr6:147680374G>T c.2460G>T c.(2458-2460)acG>acT p.T820T LUAD 6 147684481 147684481 + Silent SNP G G A TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr6:147684481G>A c.2556G>A c.(2554-2556)ttG>ttA p.L852L LUAD 6 147684611 147684611 + Missense_Mutation SNP C C T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr6:147684611C>T c.2686C>T c.(2686-2688)Cgg>Tgg p.R896W LUAD 6 147684840 147684840 + Splice_Site SNP G G T TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr6:147684840G>T c.2915G>T c.(2914-2916)aGt>aTt p.S972I LUAD 6 147685201 147685201 + Silent SNP A A C TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr6:147685201A>C c.2980A>C c.(2980-2982)Aga>Cga p.R994R LUAD 6 147703982 147703982 + Missense_Mutation SNP G G A TCGA-49-6745-01A-11D-1855-08 TCGA-49-6745-11A-01D-1855-08 g.chr6:147703982G>A c.3262G>A c.(3262-3264)Gaa>Aaa p.E1088K LUAD 6 147704039 147704039 + Missense_Mutation SNP G G T TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 g.chr6:147704039G>T c.3319G>T c.(3319-3321)Gca>Tca p.A1107S LUSC 6 147581765 147581765 + Missense_Mutation SNP A A T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 g.chr6:147581765A>T c.446A>T c.(445-447)cAt>cTt p.H149L LUSC 6 147636666 147636666 + Nonsense_Mutation SNP T T G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr6:147636666T>G c.1418T>G c.(1417-1419)tTa>tGa p.L473* LUSC 6 147637480 147637480 + Missense_Mutation SNP A A T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chr6:147637480A>T c.1739A>T c.(1738-1740)cAg>cTg p.Q580L LUSC 6 147680256 147680256 + Missense_Mutation SNP C C T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr6:147680256C>T c.2342C>T c.(2341-2343)tCa>tTa p.S781L LUSC 6 147685233 147685233 + Silent SNP A A G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr6:147685233A>G c.3012A>G c.(3010-3012)gcA>gcG p.A1004A PAAD 6 147525792 147525792 + Nonsense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 g.chr6:147525792C>T c.124C>T c.(124-126)Cag>Tag p.Q42* PAAD 6 147560343 147560343 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:147560343A>G c.368A>G c.(367-369)cAc>cGc p.H123R PAAD 6 147581831 147581831 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:147581831T>C c.512T>C c.(511-513)gTg>gCg p.V171A PAAD 6 147632647 147632647 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:147632647G>A c.1129G>A c.(1129-1131)Gac>Aac p.D377N PAAD 6 147636794 147636794 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:147636794C>A c.1546C>A c.(1546-1548)Ctg>Atg p.L516M PAAD 6 147680320 147680320 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 g.chr6:147680320G>A c.2406G>A c.(2404-2406)acG>acA p.T802T PAAD 6 147680400 147680400 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:147680400T>C c.2486T>C c.(2485-2487)cTg>cCg p.L829P PAAD 6 147684474 147684474 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:147684474C>T c.2549C>T c.(2548-2550)aCt>aTt p.T850I PAAD 6 147684586 147684586 + Silent SNP A A G TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 g.chr6:147684586A>G c.2661A>G c.(2659-2661)aaA>aaG p.K887K PAAD 6 147685192 147685192 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 g.chr6:147685192C>T c.2971C>T c.(2971-2973)Cgg>Tgg p.R991W PAAD 6 147685192 147685192 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 g.chr6:147685192C>T c.2971C>T c.(2971-2973)Cgg>Tgg p.R991W PAAD 6 147694892 147694892 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:147694892C>T c.3107C>T c.(3106-3108)cCt>cTt p.P1036L PRAD 6 147637445 147637445 + Silent SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:147637445C>A c.1704C>A c.(1702-1704)ccC>ccA p.P568P PRAD 6 147648402 147648402 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:147648402G>T c.2070G>T c.(2068-2070)caG>caT p.Q690H READ 6 147560406 147560406 + Splice_Site SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:147560406G>T c.431G>T c.(430-432)aGg>aTg p.R144M READ 6 147583481 147583481 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:147583481G>A c.622G>A c.(622-624)Gag>Aag p.E208K READ 6 147631344 147631344 + Missense_Mutation SNP C C G TCGA-AF-6672-01A-11D-1826-10 TCGA-AF-6672-10A-01D-1826-10 g.chr6:147631344C>G c.1042C>G c.(1042-1044)Cta>Gta p.L348V READ 6 147632635 147632635 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:147632635T>G c.1117T>G c.(1117-1119)Tta>Gta p.L373V SKCM 6 147525714 147525714 + Missense_Mutation SNP G G A TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr6:147525714G>A c.46G>A c.(46-48)Ggc>Agc p.G16S SKCM 6 147525724 147525724 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr6:147525724C>T c.56C>T c.(55-57)tCg>tTg p.S19L SKCM 6 147560390 147560390 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr6:147560390A>G c.415A>G c.(415-417)Aaa>Gaa p.K139E SKCM 6 147631261 147631261 + Missense_Mutation SNP C C T TCGA-EB-A44R-06A-41D-A25O-08 TCGA-EB-A44R-10A-01D-A25O-08 g.chr6:147631261C>T c.959C>T c.(958-960)aCt>aTt p.T320I SKCM 6 147646216 147646216 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr6:147646216G>A c.1924G>A c.(1924-1926)Gga>Aga p.G642R SKCM 6 147685156 147685156 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:147685156C>T c.2935C>T c.(2935-2937)Ctg>Ttg p.L979L SKCM 6 147694887 147694887 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr6:147694887C>A c.3102C>A c.(3100-3102)ttC>ttA p.F1034L SKCM 6 147703923 147703923 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr6:147703923C>T c.3203C>T c.(3202-3204)tCg>tTg p.S1068L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 6 147581856 147581856 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ALL-US 6 147581856 147581856 single base substitution C T synonymous_variant Y179Y 537C>T BLCA-US 6 147527160 147527160 single base substitution A G 5_prime_UTR_variant BLCA-US 6 147527160 147527160 single base substitution A G synonymous_variant V68V 204A>G BLCA-US 6 147648324 147648324 single base substitution C G synonymous_variant L335L 1005C>G BLCA-US 6 147648324 147648324 single base substitution C G synonymous_variant L5L 15C>G BLCA-US 6 147648324 147648324 single base substitution C G synonymous_variant L664L 1992C>G BLCA-US 6 147648324 147648324 single base substitution C G upstream_gene_variant BLCA-US 6 147648368 147648368 single base substitution G A missense_variant R11Q 32G>A BLCA-US 6 147648368 147648368 single base substitution G A missense_variant R20Q 59G>A BLCA-US 6 147648368 147648368 single base substitution G A missense_variant R350Q 1049G>A BLCA-US 6 147648368 147648368 single base substitution G A missense_variant R679Q 2036G>A BLCA-US 6 147648378 147648378 single base substitution C T synonymous_variant P14P 42C>T BLCA-US 6 147648378 147648378 single base substitution C T synonymous_variant P23P 69C>T BLCA-US 6 147648378 147648378 single base substitution C T synonymous_variant P353P 1059C>T BLCA-US 6 147648378 147648378 single base substitution C T synonymous_variant P682P 2046C>T BLCA-US 6 147704100 147704100 single base substitution C G stop_gained S1074* 3221C>G BLCA-US 6 147704100 147704100 single base substitution C G stop_gained S1091* 3272C>G BLCA-US 6 147704100 147704100 single base substitution C G stop_gained S1127* 3380C>G BLCA-US 6 147704100 147704100 single base substitution C G stop_gained S782* 2345C>G BOCA-FR 6 147546863 147546863 single base substitution G A intron_variant BOCA-FR 6 147561582 147561582 single base substitution T A intron_variant BOCA-FR 6 147569031 147569031 single base substitution G C intron_variant BRCA-EU 6 147522520 147522520 single base substitution T C upstream_gene_variant BRCA-EU 6 147523696 147523696 single base substitution A C upstream_gene_variant BRCA-EU 6 147526009 147526009 single base substitution C T intron_variant BRCA-EU 6 147526009 147526009 single base substitution C T upstream_gene_variant BRCA-EU 6 147528875 147528875 single base substitution A G intron_variant BRCA-EU 6 147529345 147529345 single base substitution C T intron_variant BRCA-EU 6 147532104 147532104 single base substitution G C intron_variant BRCA-EU 6 147533928 147533940 deletion of <=200bp AATGAACTAACAC - intron_variant BRCA-EU 6 147534171 147534171 single base substitution C G intron_variant BRCA-EU 6 147536221 147536221 single base substitution A T intron_variant BRCA-EU 6 147536693 147536693 single base substitution T A intron_variant BRCA-EU 6 147538133 147538133 single base substitution C T intron_variant BRCA-EU 6 147538182 147538182 single base substitution C T intron_variant BRCA-EU 6 147538240 147538240 single base substitution C T intron_variant BRCA-EU 6 147538390 147538390 single base substitution C T intron_variant BRCA-EU 6 147539961 147539961 single base substitution C T intron_variant BRCA-EU 6 147540149 147540149 single base substitution C T intron_variant BRCA-EU 6 147540338 147540338 deletion of <=200bp T - intron_variant BRCA-EU 6 147540566 147540566 single base substitution T C intron_variant BRCA-EU 6 147541133 147541133 single base substitution A G intron_variant BRCA-EU 6 147542847 147542847 single base substitution C A intron_variant BRCA-EU 6 147543597 147543597 single base substitution G C intron_variant BRCA-EU 6 147545519 147545519 single base substitution C T intron_variant BRCA-EU 6 147546030 147546030 single base substitution G A intron_variant BRCA-EU 6 147546095 147546095 single base substitution C T intron_variant BRCA-EU 6 147547769 147547769 single base substitution G A intron_variant BRCA-EU 6 147549529 147549529 deletion of <=200bp T - intron_variant BRCA-EU 6 147549827 147549827 single base substitution G A intron_variant BRCA-EU 6 147549879 147549879 single base substitution G A intron_variant BRCA-EU 6 147549939 147549939 single base substitution G A intron_variant BRCA-EU 6 147550424 147550424 deletion of <=200bp T - intron_variant BRCA-EU 6 147550886 147550886 deletion of <=200bp T - intron_variant BRCA-EU 6 147550926 147550926 single base substitution T C intron_variant BRCA-EU 6 147551192 147551192 single base substitution A T intron_variant BRCA-EU 6 147551227 147551227 deletion of <=200bp T - intron_variant BRCA-EU 6 147551278 147551278 single base substitution G C intron_variant BRCA-EU 6 147553548 147553548 single base substitution C G intron_variant BRCA-EU 6 147553577 147553577 single base substitution C G intron_variant BRCA-EU 6 147553632 147553632 single base substitution T G intron_variant BRCA-EU 6 147555610 147555610 single base substitution T C intron_variant BRCA-EU 6 147556340 147556340 single base substitution C G intron_variant BRCA-EU 6 147557391 147557391 single base substitution T C intron_variant BRCA-EU 6 147557930 147557930 single base substitution T C intron_variant BRCA-EU 6 147558216 147558216 single base substitution C G intron_variant BRCA-EU 6 147558401 147558401 deletion of <=200bp T - intron_variant BRCA-EU 6 147558727 147558727 single base substitution T G intron_variant BRCA-EU 6 147558816 147558816 single base substitution A C intron_variant BRCA-EU 6 147559786 147559786 single base substitution A C intron_variant BRCA-EU 6 147561038 147561038 single base substitution C A intron_variant BRCA-EU 6 147561075 147561075 single base substitution G A intron_variant BRCA-EU 6 147561728 147561728 single base substitution T G intron_variant BRCA-EU 6 147561734 147561734 single base substitution C G intron_variant BRCA-EU 6 147562545 147562545 single base substitution C T intron_variant BRCA-EU 6 147562843 147562843 single base substitution T A intron_variant BRCA-EU 6 147567051 147567051 single base substitution G A intron_variant BRCA-EU 6 147568905 147568905 single base substitution G C intron_variant BRCA-EU 6 147568928 147568928 single base substitution C A intron_variant BRCA-EU 6 147568966 147568966 single base substitution C A intron_variant BRCA-EU 6 147571077 147571077 single base substitution A T intron_variant BRCA-EU 6 147571375 147571375 single base substitution C A intron_variant BRCA-EU 6 147571548 147571548 deletion of <=200bp A - intron_variant BRCA-EU 6 147571548 147571548 insertion of <=200bp - A intron_variant BRCA-EU 6 147572401 147572401 single base substitution C T intron_variant BRCA-EU 6 147572510 147572510 single base substitution G C intron_variant BRCA-EU 6 147572913 147572913 single base substitution C T intron_variant BRCA-EU 6 147573661 147573661 insertion of <=200bp - A intron_variant BRCA-EU 6 147573893 147573893 single base substitution C T intron_variant BRCA-EU 6 147574296 147574296 single base substitution G A intron_variant BRCA-EU 6 147574863 147574863 single base substitution A C intron_variant BRCA-EU 6 147574884 147574884 single base substitution A G intron_variant BRCA-EU 6 147575180 147575180 single base substitution C G intron_variant BRCA-EU 6 147575706 147575706 single base substitution C A intron_variant BRCA-EU 6 147576102 147576102 single base substitution G T intron_variant BRCA-EU 6 147577390 147577390 single base substitution C A intron_variant BRCA-EU 6 147577555 147577555 single base substitution A T intron_variant BRCA-EU 6 147578275 147578275 single base substitution A G intron_variant BRCA-EU 6 147579013 147579013 single base substitution G T intron_variant BRCA-EU 6 147579074 147579074 single base substitution C A intron_variant BRCA-EU 6 147579077 147579077 single base substitution G C intron_variant BRCA-EU 6 147579369 147579369 single base substitution C G intron_variant BRCA-EU 6 147579542 147579542 single base substitution C T intron_variant BRCA-EU 6 147579662 147579662 single base substitution C T intron_variant BRCA-EU 6 147579726 147579726 single base substitution C T intron_variant BRCA-EU 6 147580793 147580793 single base substitution C T intron_variant BRCA-EU 6 147581769 147581769 single base substitution G C 5_prime_UTR_variant BRCA-EU 6 147581769 147581769 single base substitution G C synonymous_variant L150L 450G>C BRCA-EU 6 147582764 147582764 single base substitution T A intron_variant BRCA-EU 6 147585612 147585612 single base substitution C A intron_variant BRCA-EU 6 147585973 147585973 single base substitution G A intron_variant BRCA-EU 6 147586436 147586436 single base substitution A G intron_variant BRCA-EU 6 147587885 147587885 single base substitution G T intron_variant BRCA-EU 6 147588269 147588269 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 6 147588269 147588269 single base substitution C G stop_gained S227* 680C>G BRCA-EU 6 147589572 147589572 single base substitution C G intron_variant BRCA-EU 6 147590240 147590270 deletion of <=200bp ATACTGATTATTGCATGGGTATAAGGCTTGG - intron_variant BRCA-EU 6 147591674 147591674 single base substitution T A intron_variant BRCA-EU 6 147591917 147591917 single base substitution A C intron_variant BRCA-EU 6 147593064 147593064 single base substitution A G intron_variant BRCA-EU 6 147593297 147593297 single base substitution G C intron_variant BRCA-EU 6 147594434 147594434 single base substitution A G intron_variant BRCA-EU 6 147595158 147595158 deletion of <=200bp T - intron_variant BRCA-EU 6 147596083 147596083 single base substitution C G intron_variant BRCA-EU 6 147596767 147596767 single base substitution C T intron_variant BRCA-EU 6 147597448 147597448 insertion of <=200bp - T intron_variant BRCA-EU 6 147601256 147601256 single base substitution C G intron_variant BRCA-EU 6 147603778 147603778 single base substitution C T intron_variant BRCA-EU 6 147605246 147605246 deletion of <=200bp T - intron_variant BRCA-EU 6 147605960 147605960 deletion of <=200bp A - intron_variant BRCA-EU 6 147606601 147606601 single base substitution C G intron_variant BRCA-EU 6 147607880 147607880 deletion of <=200bp T - intron_variant BRCA-EU 6 147608818 147608818 single base substitution G A intron_variant BRCA-EU 6 147611361 147611361 single base substitution A T intron_variant BRCA-EU 6 147613341 147613341 single base substitution A C intron_variant BRCA-EU 6 147616870 147616870 single base substitution C G downstream_gene_variant BRCA-EU 6 147616870 147616870 single base substitution C G intron_variant BRCA-EU 6 147617125 147617125 single base substitution T C downstream_gene_variant BRCA-EU 6 147617125 147617125 single base substitution T C intron_variant BRCA-EU 6 147617424 147617424 single base substitution C T downstream_gene_variant BRCA-EU 6 147617424 147617424 single base substitution C T intron_variant BRCA-EU 6 147618860 147618860 single base substitution T C downstream_gene_variant BRCA-EU 6 147618860 147618860 single base substitution T C intron_variant BRCA-EU 6 147618963 147618963 single base substitution C G downstream_gene_variant BRCA-EU 6 147618963 147618963 single base substitution C G intron_variant BRCA-EU 6 147620208 147620208 single base substitution C T intron_variant BRCA-EU 6 147621042 147621042 single base substitution A C intron_variant BRCA-EU 6 147621417 147621417 single base substitution G C intron_variant BRCA-EU 6 147621886 147621886 deletion of <=200bp T - intron_variant BRCA-EU 6 147622292 147622292 single base substitution G A intron_variant BRCA-EU 6 147622325 147622325 single base substitution T G intron_variant BRCA-EU 6 147622374 147622374 single base substitution G C intron_variant BRCA-EU 6 147622375 147622375 single base substitution G A intron_variant BRCA-EU 6 147623775 147623775 single base substitution A T intron_variant BRCA-EU 6 147623776 147623776 single base substitution C A intron_variant BRCA-EU 6 147624092 147624092 single base substitution G A intron_variant BRCA-EU 6 147624494 147624494 single base substitution C G intron_variant BRCA-EU 6 147625860 147625860 single base substitution G T intron_variant BRCA-EU 6 147626474 147626474 single base substitution C G intron_variant BRCA-EU 6 147629451 147629451 single base substitution A G intron_variant BRCA-EU 6 147633424 147633424 single base substitution A T intron_variant BRCA-EU 6 147634595 147634595 single base substitution C T intron_variant BRCA-EU 6 147635389 147635389 deletion of <=200bp T - intron_variant BRCA-EU 6 147635881 147635881 single base substitution T C intron_variant BRCA-EU 6 147636218 147636218 single base substitution C A intron_variant BRCA-EU 6 147637130 147637130 single base substitution A C intron_variant BRCA-EU 6 147638558 147638558 single base substitution A G intron_variant BRCA-EU 6 147640141 147640141 single base substitution A G intron_variant BRCA-EU 6 147640337 147640337 single base substitution A G intron_variant BRCA-EU 6 147640637 147640637 insertion of <=200bp - T intron_variant BRCA-EU 6 147644062 147644062 single base substitution C G intron_variant BRCA-EU 6 147644062 147644062 single base substitution C G upstream_gene_variant BRCA-EU 6 147645285 147645285 insertion of <=200bp - CA intron_variant BRCA-EU 6 147645285 147645285 insertion of <=200bp - CA upstream_gene_variant BRCA-EU 6 147645285 147645286 deletion of <=200bp CA - intron_variant BRCA-EU 6 147645285 147645286 deletion of <=200bp CA - upstream_gene_variant BRCA-EU 6 147645984 147645984 single base substitution G A intron_variant BRCA-EU 6 147645984 147645984 single base substitution G A upstream_gene_variant BRCA-EU 6 147646555 147646555 single base substitution T A intron_variant BRCA-EU 6 147646555 147646555 single base substitution T A upstream_gene_variant BRCA-EU 6 147647751 147647751 single base substitution C A intron_variant BRCA-EU 6 147647751 147647751 single base substitution C A upstream_gene_variant BRCA-EU 6 147648000 147648000 single base substitution C T intron_variant BRCA-EU 6 147648000 147648000 single base substitution C T upstream_gene_variant BRCA-EU 6 147648072 147648072 single base substitution C T intron_variant BRCA-EU 6 147648072 147648072 single base substitution C T upstream_gene_variant BRCA-EU 6 147650586 147650586 single base substitution C G intron_variant BRCA-EU 6 147650657 147650657 single base substitution C G intron_variant BRCA-EU 6 147650878 147650878 single base substitution C T intron_variant BRCA-EU 6 147652340 147652340 single base substitution A G intron_variant BRCA-EU 6 147652951 147652951 insertion of <=200bp - T intron_variant BRCA-EU 6 147653880 147653880 single base substitution T C intron_variant BRCA-EU 6 147654213 147654213 single base substitution C G intron_variant BRCA-EU 6 147654351 147654351 insertion of <=200bp - T intron_variant BRCA-EU 6 147655368 147655368 insertion of <=200bp - T intron_variant BRCA-EU 6 147656524 147656524 single base substitution C T intron_variant BRCA-EU 6 147656934 147656934 single base substitution C G intron_variant BRCA-EU 6 147657016 147657016 single base substitution C A intron_variant BRCA-EU 6 147657704 147657704 single base substitution T A intron_variant BRCA-EU 6 147657754 147657754 single base substitution C T intron_variant BRCA-EU 6 147659095 147659095 single base substitution C T intron_variant BRCA-EU 6 147659634 147659634 single base substitution C G intron_variant BRCA-EU 6 147660634 147660634 deletion of <=200bp A - intron_variant BRCA-EU 6 147660728 147660728 insertion of <=200bp - T intron_variant BRCA-EU 6 147661778 147661778 single base substitution C T intron_variant BRCA-EU 6 147662770 147662770 single base substitution C G intron_variant BRCA-EU 6 147663565 147663565 deletion of <=200bp A - intron_variant BRCA-EU 6 147665152 147665152 single base substitution T G intron_variant BRCA-EU 6 147665875 147665875 single base substitution G C intron_variant BRCA-EU 6 147666149 147666149 single base substitution C T intron_variant BRCA-EU 6 147666802 147666802 single base substitution A G intron_variant BRCA-EU 6 147667672 147667672 single base substitution C T intron_variant BRCA-EU 6 147668785 147668785 single base substitution G T intron_variant BRCA-EU 6 147668896 147668896 insertion of <=200bp - A intron_variant BRCA-EU 6 147671117 147671117 single base substitution T C intron_variant BRCA-EU 6 147671542 147671542 single base substitution G C intron_variant BRCA-EU 6 147672515 147672515 single base substitution C G intron_variant BRCA-EU 6 147672831 147672831 single base substitution A C intron_variant BRCA-EU 6 147673143 147673143 single base substitution A C intron_variant BRCA-EU 6 147675663 147675663 single base substitution C G intron_variant BRCA-EU 6 147676232 147676232 single base substitution C T intron_variant BRCA-EU 6 147678087 147678087 single base substitution G A intron_variant BRCA-EU 6 147680752 147680752 single base substitution C G downstream_gene_variant BRCA-EU 6 147680752 147680752 single base substitution C G intron_variant BRCA-EU 6 147681351 147681351 single base substitution C T downstream_gene_variant BRCA-EU 6 147681351 147681351 single base substitution C T intron_variant BRCA-EU 6 147681668 147681668 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 147681668 147681668 deletion of <=200bp T - intron_variant BRCA-EU 6 147682847 147682847 single base substitution A T downstream_gene_variant BRCA-EU 6 147682847 147682847 single base substitution A T intron_variant BRCA-EU 6 147682980 147682980 single base substitution C A downstream_gene_variant BRCA-EU 6 147682980 147682980 single base substitution C A intron_variant BRCA-EU 6 147683166 147683166 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 147683166 147683166 deletion of <=200bp T - intron_variant BRCA-EU 6 147683690 147683690 single base substitution G A downstream_gene_variant BRCA-EU 6 147683690 147683690 single base substitution G A intron_variant BRCA-EU 6 147683755 147683755 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 147683755 147683755 deletion of <=200bp T - intron_variant BRCA-EU 6 147684225 147684225 single base substitution T C downstream_gene_variant BRCA-EU 6 147684225 147684225 single base substitution T C intron_variant BRCA-EU 6 147684611 147684611 single base substitution C T downstream_gene_variant BRCA-EU 6 147684611 147684611 single base substitution C T missense_variant R220W 658C>T BRCA-EU 6 147684611 147684611 single base substitution C T missense_variant R551W 1651C>T BRCA-EU 6 147684611 147684611 single base substitution C T missense_variant R843W 2527C>T BRCA-EU 6 147684611 147684611 single base substitution C T missense_variant R860W 2578C>T BRCA-EU 6 147684611 147684611 single base substitution C T missense_variant R896W 2686C>T BRCA-EU 6 147684614 147684614 single base substitution C T downstream_gene_variant BRCA-EU 6 147684614 147684614 single base substitution C T missense_variant R221W 661C>T BRCA-EU 6 147684614 147684614 single base substitution C T missense_variant R552W 1654C>T BRCA-EU 6 147684614 147684614 single base substitution C T missense_variant R844W 2530C>T BRCA-EU 6 147684614 147684614 single base substitution C T missense_variant R861W 2581C>T BRCA-EU 6 147684614 147684614 single base substitution C T missense_variant R897W 2689C>T BRCA-EU 6 147685487 147685487 single base substitution G C downstream_gene_variant BRCA-EU 6 147685487 147685487 single base substitution G C intron_variant BRCA-EU 6 147685609 147685609 insertion of <=200bp - AC downstream_gene_variant BRCA-EU 6 147685609 147685609 insertion of <=200bp - AC intron_variant BRCA-EU 6 147688153 147688153 single base substitution C T downstream_gene_variant BRCA-EU 6 147688153 147688153 single base substitution C T intron_variant BRCA-EU 6 147689021 147689021 single base substitution A G downstream_gene_variant BRCA-EU 6 147689021 147689021 single base substitution A G intron_variant BRCA-EU 6 147689357 147689357 single base substitution A T downstream_gene_variant BRCA-EU 6 147689357 147689357 single base substitution A T intron_variant BRCA-EU 6 147689591 147689591 single base substitution C T downstream_gene_variant BRCA-EU 6 147689591 147689591 single base substitution C T intron_variant BRCA-EU 6 147690682 147690682 single base substitution C T intron_variant BRCA-EU 6 147690717 147690717 single base substitution C T intron_variant BRCA-EU 6 147691984 147691984 single base substitution C T intron_variant BRCA-EU 6 147694223 147694223 single base substitution C G intron_variant BRCA-EU 6 147695039 147695039 single base substitution A T intron_variant BRCA-EU 6 147696769 147696769 insertion of <=200bp - AT intron_variant BRCA-EU 6 147697466 147697466 single base substitution A G intron_variant BRCA-EU 6 147697759 147697759 single base substitution C T intron_variant BRCA-EU 6 147698235 147698235 single base substitution A G intron_variant BRCA-EU 6 147698314 147698314 single base substitution A T intron_variant BRCA-EU 6 147698712 147698712 deletion of <=200bp C - intron_variant BRCA-EU 6 147698803 147698803 single base substitution C G intron_variant BRCA-EU 6 147699430 147699430 single base substitution C T intron_variant BRCA-EU 6 147700148 147700148 single base substitution G A intron_variant BRCA-EU 6 147701427 147701427 single base substitution G T intron_variant BRCA-EU 6 147701501 147701501 deletion of <=200bp T - intron_variant BRCA-EU 6 147701893 147701893 single base substitution C T intron_variant BRCA-EU 6 147702219 147702219 single base substitution T G intron_variant BRCA-EU 6 147702560 147702560 single base substitution A G intron_variant BRCA-EU 6 147703308 147703308 single base substitution G C intron_variant BRCA-EU 6 147703350 147703350 single base substitution C T intron_variant BRCA-EU 6 147703890 147703890 single base substitution C G intron_variant BRCA-EU 6 147704473 147704473 single base substitution G C intron_variant BRCA-EU 6 147704706 147704706 deletion of <=200bp A - intron_variant BRCA-EU 6 147705350 147705350 single base substitution A G intron_variant BRCA-EU 6 147705972 147705972 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 147705972 147705972 single base substitution G A downstream_gene_variant BRCA-EU 6 147708170 147708170 single base substitution T C downstream_gene_variant BRCA-EU 6 147708905 147708905 single base substitution G A downstream_gene_variant BRCA-EU 6 147708920 147708920 single base substitution C G downstream_gene_variant BRCA-EU 6 147709328 147709328 single base substitution C T downstream_gene_variant BRCA-EU 6 147709624 147709624 single base substitution G A downstream_gene_variant BRCA-EU 6 147709745 147709745 single base substitution A G downstream_gene_variant BRCA-EU 6 147709993 147709993 single base substitution C G downstream_gene_variant BRCA-EU 6 147711641 147711641 deletion of <=200bp T - downstream_gene_variant BRCA-FR 6 147526009 147526009 single base substitution C T intron_variant BRCA-FR 6 147526009 147526009 single base substitution C T upstream_gene_variant BRCA-FR 6 147536221 147536221 single base substitution A T intron_variant BRCA-FR 6 147562268 147562268 single base substitution A T intron_variant BRCA-FR 6 147570826 147570826 single base substitution A G intron_variant BRCA-FR 6 147572256 147572256 single base substitution G A intron_variant BRCA-FR 6 147572913 147572913 single base substitution C T intron_variant BRCA-FR 6 147575180 147575180 single base substitution C G intron_variant BRCA-FR 6 147576271 147576271 single base substitution C T intron_variant BRCA-FR 6 147579013 147579013 single base substitution G T intron_variant BRCA-FR 6 147579077 147579077 single base substitution G C intron_variant BRCA-FR 6 147579369 147579369 single base substitution C G intron_variant BRCA-FR 6 147579662 147579662 single base substitution C T intron_variant BRCA-FR 6 147585612 147585612 single base substitution C A intron_variant BRCA-FR 6 147596767 147596767 single base substitution C T intron_variant BRCA-FR 6 147621417 147621417 single base substitution G C intron_variant BRCA-FR 6 147624494 147624494 single base substitution C G intron_variant BRCA-FR 6 147626474 147626474 single base substitution C G intron_variant BRCA-FR 6 147634414 147634414 single base substitution A T intron_variant BRCA-FR 6 147636218 147636218 single base substitution C A intron_variant BRCA-FR 6 147646819 147646819 single base substitution A T intron_variant BRCA-FR 6 147646819 147646819 single base substitution A T upstream_gene_variant BRCA-FR 6 147648072 147648072 single base substitution C T intron_variant BRCA-FR 6 147648072 147648072 single base substitution C T upstream_gene_variant BRCA-FR 6 147652960 147652960 single base substitution A C intron_variant BRCA-FR 6 147654213 147654213 single base substitution C G intron_variant BRCA-FR 6 147665875 147665875 single base substitution G C intron_variant BRCA-FR 6 147667556 147667556 single base substitution T C intron_variant BRCA-FR 6 147667672 147667672 single base substitution C T intron_variant BRCA-FR 6 147672413 147672413 single base substitution G C intron_variant BRCA-FR 6 147684611 147684611 single base substitution C T downstream_gene_variant BRCA-FR 6 147684611 147684611 single base substitution C T missense_variant R220W 658C>T BRCA-FR 6 147684611 147684611 single base substitution C T missense_variant R551W 1651C>T BRCA-FR 6 147684611 147684611 single base substitution C T missense_variant R843W 2527C>T BRCA-FR 6 147684611 147684611 single base substitution C T missense_variant R860W 2578C>T BRCA-FR 6 147684611 147684611 single base substitution C T missense_variant R896W 2686C>T BRCA-FR 6 147693304 147693304 single base substitution C G intron_variant BRCA-FR 6 147701893 147701893 single base substitution C T intron_variant BRCA-UK 6 147523569 147523569 single base substitution C A upstream_gene_variant BRCA-UK 6 147561075 147561075 single base substitution G A intron_variant BRCA-UK 6 147577390 147577390 single base substitution C A intron_variant BRCA-UK 6 147618860 147618860 single base substitution T C downstream_gene_variant BRCA-UK 6 147618860 147618860 single base substitution T C intron_variant BRCA-UK 6 147626287 147626287 single base substitution C G intron_variant BRCA-UK 6 147650586 147650586 single base substitution C G intron_variant BRCA-UK 6 147679865 147679865 single base substitution G C intron_variant BRCA-UK 6 147695039 147695039 single base substitution A T intron_variant BRCA-US 6 147525627 147525627 single base substitution T G 5_prime_UTR_variant BRCA-US 6 147525627 147525627 single base substitution T G upstream_gene_variant BRCA-US 6 147525812 147525812 single base substitution C T synonymous_variant L48L 144C>T BRCA-US 6 147525812 147525812 single base substitution C T upstream_gene_variant BRCA-US 6 147556463 147556463 single base substitution A G 5_prime_UTR_variant BRCA-US 6 147556463 147556463 single base substitution A G missense_variant N109S 326A>G BRCA-US 6 147581807 147581807 single base substitution G A 5_prime_UTR_variant BRCA-US 6 147581807 147581807 single base substitution G A missense_variant R163Q 488G>A BRCA-US 6 147636833 147636833 single base substitution A C synonymous_variant R200R 598A>C BRCA-US 6 147636833 147636833 single base substitution A C synonymous_variant R529R 1585A>C BRCA-US 6 147655358 147655358 single base substitution G C missense_variant A716P 2146G>C BRCA-US 6 147655358 147655358 single base substitution G C missense_variant A76P 226G>C BRCA-US 6 147655358 147655358 single base substitution G C missense_variant D716H 2146G>C BRCA-US 6 147655358 147655358 single base substitution G C missense_variant G387R 1159G>C BRCA-US 6 147655358 147655358 single base substitution G C missense_variant G57R 169G>C BRCA-US 6 147655358 147655358 single base substitution G C missense_variant G716R 2146G>C BRCA-US 6 147660341 147660341 single base substitution G A intron_variant BRCA-US 6 147660341 147660341 single base substitution G A missense_variant D396N 1186G>A BRCA-US 6 147660341 147660341 single base substitution G A missense_variant D66N 196G>A BRCA-US 6 147660341 147660341 single base substitution G A missense_variant D725N 2173G>A BRCA-US 6 147680336 147680336 single base substitution G A missense_variant D132N 394G>A BRCA-US 6 147680336 147680336 single base substitution G A missense_variant D133N 397G>A BRCA-US 6 147680336 147680336 single base substitution G A missense_variant D463N 1387G>A BRCA-US 6 147680336 147680336 single base substitution G A missense_variant D755N 2263G>A BRCA-US 6 147680336 147680336 single base substitution G A missense_variant D772N 2314G>A BRCA-US 6 147680336 147680336 single base substitution G A missense_variant D808N 2422G>A BRCA-US 6 147684477 147684477 single base substitution T A downstream_gene_variant BRCA-US 6 147684477 147684477 single base substitution T A missense_variant I175K 524T>A BRCA-US 6 147684477 147684477 single base substitution T A missense_variant I506K 1517T>A BRCA-US 6 147684477 147684477 single base substitution T A missense_variant I798K 2393T>A BRCA-US 6 147684477 147684477 single base substitution T A missense_variant I815K 2444T>A BRCA-US 6 147684477 147684477 single base substitution T A missense_variant I851K 2552T>A BRCA-US 6 147684707 147684707 single base substitution C T downstream_gene_variant BRCA-US 6 147684707 147684707 single base substitution C T synonymous_variant L252L 754C>T BRCA-US 6 147684707 147684707 single base substitution C T synonymous_variant L583L 1747C>T BRCA-US 6 147684707 147684707 single base substitution C T synonymous_variant L875L 2623C>T BRCA-US 6 147684707 147684707 single base substitution C T synonymous_variant L892L 2674C>T BRCA-US 6 147684707 147684707 single base substitution C T synonymous_variant L928L 2782C>T BRCA-US 6 147684754 147684754 single base substitution G C downstream_gene_variant BRCA-US 6 147684754 147684754 single base substitution G C synonymous_variant S598S 1794G>C BRCA-US 6 147684754 147684754 single base substitution G C synonymous_variant S890S 2670G>C BRCA-US 6 147684754 147684754 single base substitution G C synonymous_variant S907S 2721G>C BRCA-US 6 147684754 147684754 single base substitution G C synonymous_variant S943S 2829G>C BRCA-US 6 147703925 147703925 insertion of <=200bp - A frameshift_variant S1016I? BRCA-US 6 147703925 147703925 insertion of <=200bp - A frameshift_variant S1033I? BRCA-US 6 147703925 147703925 insertion of <=200bp - A frameshift_variant S1069I? BRCA-US 6 147703925 147703925 insertion of <=200bp - A frameshift_variant S724I? BTCA-JP 6 147525716 147525716 single base substitution C T synonymous_variant G16G 48C>T BTCA-JP 6 147525716 147525716 single base substitution C T upstream_gene_variant BTCA-JP 6 147527113 147527113 deletion of <=200bp C - 5_prime_UTR_variant BTCA-JP 6 147527113 147527113 deletion of <=200bp C - frameshift_variant R53 BTCA-JP 6 147527172 147527172 single base substitution G A 5_prime_UTR_variant BTCA-JP 6 147527172 147527172 single base substitution G A synonymous_variant L72L 216G>A BTCA-JP 6 147581893 147581893 single base substitution T C splice_region_variant BTCA-JP 6 147612279 147612279 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 6 147612279 147612279 single base substitution C G synonymous_variant L296L 888C>G BTCA-JP 6 147635757 147635757 single base substitution T C missense_variant W134R 400T>C BTCA-JP 6 147635757 147635757 single base substitution T C missense_variant W463R 1387T>C BTCA-JP 6 147655368 147655368 deletion of <=200bp T - intron_variant BTCA-JP 6 147660373 147660373 single base substitution G C intron_variant BTCA-JP 6 147660373 147660373 single base substitution G C missense_variant K406N 1218G>C BTCA-JP 6 147660373 147660373 single base substitution G C missense_variant K735N 2205G>C BTCA-JP 6 147660373 147660373 single base substitution G C missense_variant K76N 228G>C BTCA-JP 6 147680335 147680335 single base substitution G A synonymous_variant T131T 393G>A BTCA-JP 6 147680335 147680335 single base substitution G A synonymous_variant T132T 396G>A BTCA-JP 6 147680335 147680335 single base substitution G A synonymous_variant T462T 1386G>A BTCA-JP 6 147680335 147680335 single base substitution G A synonymous_variant T754T 2262G>A BTCA-JP 6 147680335 147680335 single base substitution G A synonymous_variant T771T 2313G>A BTCA-JP 6 147680335 147680335 single base substitution G A synonymous_variant T807T 2421G>A BTCA-JP 6 147705832 147705832 insertion of <=200bp - T intron_variant CESC-US 6 147525730 147525730 single base substitution C T missense_variant S21L 62C>T CESC-US 6 147525730 147525730 single base substitution C T upstream_gene_variant CESC-US 6 147635411 147635411 single base substitution C T synonymous_variant I106I 318C>T CESC-US 6 147635411 147635411 single base substitution C T synonymous_variant I435I 1305C>T CESC-US 6 147660514 147660514 single base substitution G C intron_variant CESC-US 6 147660514 147660514 single base substitution G C missense_variant D750H 2248G>C CESC-US 6 147680232 147680232 single base substitution A G missense_variant N428S 1283A>G CESC-US 6 147680232 147680232 single base substitution A G missense_variant N720S 2159A>G CESC-US 6 147680232 147680232 single base substitution A G missense_variant N737S 2210A>G CESC-US 6 147680232 147680232 single base substitution A G missense_variant N773S 2318A>G CESC-US 6 147680232 147680232 single base substitution A G missense_variant N97S 290A>G CESC-US 6 147680232 147680232 single base substitution A G missense_variant N98S 293A>G CLLE-ES 6 147532398 147532398 single base substitution T A intron_variant CLLE-ES 6 147563300 147563300 single base substitution T G intron_variant CLLE-ES 6 147585911 147585911 single base substitution T A intron_variant CLLE-ES 6 147596585 147596585 single base substitution T C intron_variant CLLE-ES 6 147604315 147604315 single base substitution T A intron_variant CLLE-ES 6 147608905 147608905 single base substitution G C intron_variant CLLE-ES 6 147610516 147610516 single base substitution T C intron_variant CLLE-ES 6 147613714 147613714 single base substitution T C 3_prime_UTR_variant CLLE-ES 6 147613714 147613714 single base substitution T C intron_variant CLLE-ES 6 147670496 147670496 single base substitution C T intron_variant CLLE-ES 6 147678028 147678028 single base substitution A T intron_variant CLLE-ES 6 147678654 147678654 single base substitution G T intron_variant CLLE-ES 6 147702094 147702094 single base substitution C G intron_variant COAD-US 6 147525743 147525743 single base substitution G A synonymous_variant Q25Q 75G>A COAD-US 6 147525743 147525743 single base substitution G A upstream_gene_variant COAD-US 6 147560357 147560357 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 6 147560357 147560357 single base substitution C T missense_variant R128C 382C>T COAD-US 6 147588258 147588258 single base substitution G T 5_prime_UTR_variant COAD-US 6 147588258 147588258 single base substitution G T missense_variant W223C 669G>T COAD-US 6 147635756 147635756 single base substitution C T synonymous_variant F133F 399C>T COAD-US 6 147635756 147635756 single base substitution C T synonymous_variant F462F 1386C>T COAD-US 6 147660522 147660522 single base substitution T C intron_variant COAD-US 6 147660522 147660522 single base substitution T C splice_donor_variant COAD-US 6 147680300 147680300 single base substitution G A missense_variant A120T 358G>A COAD-US 6 147680300 147680300 single base substitution G A missense_variant A121T 361G>A COAD-US 6 147680300 147680300 single base substitution G A missense_variant A451T 1351G>A COAD-US 6 147680300 147680300 single base substitution G A missense_variant A743T 2227G>A COAD-US 6 147680300 147680300 single base substitution G A missense_variant A760T 2278G>A COAD-US 6 147680300 147680300 single base substitution G A missense_variant A796T 2386G>A COAD-US 6 147680334 147680334 single base substitution C T missense_variant T131M 392C>T COAD-US 6 147680334 147680334 single base substitution C T missense_variant T132M 395C>T COAD-US 6 147680334 147680334 single base substitution C T missense_variant T462M 1385C>T COAD-US 6 147680334 147680334 single base substitution C T missense_variant T754M 2261C>T COAD-US 6 147680334 147680334 single base substitution C T missense_variant T771M 2312C>T COAD-US 6 147680334 147680334 single base substitution C T missense_variant T807M 2420C>T COAD-US 6 147704027 147704027 single base substitution C T stop_gained R1050* 3148C>T COAD-US 6 147704027 147704027 single base substitution C T stop_gained R1067* 3199C>T COAD-US 6 147704027 147704027 single base substitution C T stop_gained R1103* 3307C>T COAD-US 6 147704027 147704027 single base substitution C T stop_gained R758* 2272C>T COCA-CN 6 147525914 147525914 single base substitution G T intron_variant COCA-CN 6 147525914 147525914 single base substitution G T upstream_gene_variant COCA-CN 6 147558766 147558766 single base substitution G T intron_variant COCA-CN 6 147560358 147560358 single base substitution G A 5_prime_UTR_variant COCA-CN 6 147560358 147560358 single base substitution G A missense_variant R128H 383G>A COCA-CN 6 147585929 147585929 single base substitution C A intron_variant COCA-CN 6 147591880 147591880 single base substitution A C intron_variant COCA-CN 6 147592411 147592411 single base substitution T A intron_variant COCA-CN 6 147599376 147599376 single base substitution T C intron_variant COCA-CN 6 147608559 147608559 single base substitution C G intron_variant COCA-CN 6 147622572 147622572 single base substitution A G intron_variant COCA-CN 6 147635722 147635722 single base substitution C T intron_variant COCA-CN 6 147636684 147636684 single base substitution C A missense_variant S150Y 449C>A COCA-CN 6 147636684 147636684 single base substitution C A missense_variant S479Y 1436C>A COCA-CN 6 147646013 147646013 single base substitution G A intron_variant COCA-CN 6 147646013 147646013 single base substitution G A upstream_gene_variant COCA-CN 6 147649716 147649716 single base substitution T G intron_variant COCA-CN 6 147660295 147660295 single base substitution C T intron_variant COCA-CN 6 147684543 147684543 single base substitution C A downstream_gene_variant COCA-CN 6 147684543 147684543 single base substitution C A missense_variant P197H 590C>A COCA-CN 6 147684543 147684543 single base substitution C A missense_variant P528H 1583C>A COCA-CN 6 147684543 147684543 single base substitution C A missense_variant P820H 2459C>A COCA-CN 6 147684543 147684543 single base substitution C A missense_variant P837H 2510C>A COCA-CN 6 147684543 147684543 single base substitution C A missense_variant P873H 2618C>A COCA-CN 6 147685192 147685192 single base substitution C T downstream_gene_variant COCA-CN 6 147685192 147685192 single base substitution C T missense_variant R646W 1936C>T COCA-CN 6 147685192 147685192 single base substitution C T missense_variant R938W 2812C>T COCA-CN 6 147685192 147685192 single base substitution C T missense_variant R955W 2863C>T COCA-CN 6 147685192 147685192 single base substitution C T missense_variant R991W 2971C>T COCA-CN 6 147687129 147687129 single base substitution A C downstream_gene_variant COCA-CN 6 147687129 147687129 single base substitution A C intron_variant COCA-CN 6 147701861 147701861 single base substitution G A intron_variant COCA-CN 6 147703003 147703003 single base substitution A G intron_variant COCA-CN 6 147703977 147703977 single base substitution G A missense_variant G1033D 3098G>A COCA-CN 6 147703977 147703977 single base substitution G A missense_variant G1050D 3149G>A COCA-CN 6 147703977 147703977 single base substitution G A missense_variant G1086D 3257G>A COCA-CN 6 147703977 147703977 single base substitution G A missense_variant G741D 2222G>A COCA-CN 6 147707214 147707214 single base substitution A C downstream_gene_variant EOPC-DE 6 147581974 147581974 single base substitution G A intron_variant EOPC-DE 6 147582928 147582928 single base substitution T G intron_variant EOPC-DE 6 147647452 147647452 single base substitution A G intron_variant EOPC-DE 6 147647452 147647452 single base substitution A G upstream_gene_variant ESAD-UK 6 147521862 147521862 single base substitution T G upstream_gene_variant ESAD-UK 6 147522785 147522785 single base substitution C T upstream_gene_variant ESAD-UK 6 147522827 147522827 single base substitution C T upstream_gene_variant ESAD-UK 6 147528366 147528369 deletion of <=200bp ATAG - intron_variant ESAD-UK 6 147528397 147528397 single base substitution T G intron_variant ESAD-UK 6 147529361 147529361 single base substitution C G intron_variant ESAD-UK 6 147531535 147531535 single base substitution T G intron_variant ESAD-UK 6 147533174 147533174 single base substitution A C intron_variant ESAD-UK 6 147534049 147534049 insertion of <=200bp - T intron_variant ESAD-UK 6 147536476 147536476 single base substitution T A intron_variant ESAD-UK 6 147538714 147538714 single base substitution A G intron_variant ESAD-UK 6 147541566 147541566 single base substitution T G intron_variant ESAD-UK 6 147543087 147543087 deletion of <=200bp T - intron_variant ESAD-UK 6 147543520 147543520 single base substitution G A intron_variant ESAD-UK 6 147545534 147545534 single base substitution G T intron_variant ESAD-UK 6 147547257 147547257 single base substitution C T intron_variant ESAD-UK 6 147549104 147549104 single base substitution G C intron_variant ESAD-UK 6 147549877 147549877 single base substitution T C intron_variant ESAD-UK 6 147550424 147550424 deletion of <=200bp T - intron_variant ESAD-UK 6 147553141 147553141 single base substitution A T intron_variant ESAD-UK 6 147557223 147557223 single base substitution T G intron_variant ESAD-UK 6 147558453 147558453 deletion of <=200bp T - intron_variant ESAD-UK 6 147560406 147560406 single base substitution G T missense_variant R144M 431G>T ESAD-UK 6 147560406 147560406 single base substitution G T splice_region_variant ESAD-UK 6 147560893 147560893 single base substitution G C intron_variant ESAD-UK 6 147561641 147561641 single base substitution A T intron_variant ESAD-UK 6 147562515 147562515 single base substitution C T intron_variant ESAD-UK 6 147563539 147563539 single base substitution T C intron_variant ESAD-UK 6 147563894 147563894 single base substitution T C intron_variant ESAD-UK 6 147565783 147565783 single base substitution C T intron_variant ESAD-UK 6 147567892 147567892 single base substitution A C intron_variant ESAD-UK 6 147570728 147570728 single base substitution C T intron_variant ESAD-UK 6 147571391 147571391 single base substitution C T intron_variant ESAD-UK 6 147572315 147572315 single base substitution A G intron_variant ESAD-UK 6 147572631 147572631 single base substitution C T intron_variant ESAD-UK 6 147574080 147574080 single base substitution C T intron_variant ESAD-UK 6 147574348 147574348 single base substitution C T intron_variant ESAD-UK 6 147575140 147575140 single base substitution A G intron_variant ESAD-UK 6 147575530 147575530 single base substitution G C intron_variant ESAD-UK 6 147578178 147578178 single base substitution C T intron_variant ESAD-UK 6 147580353 147580353 single base substitution T A intron_variant ESAD-UK 6 147580993 147580993 single base substitution G T intron_variant ESAD-UK 6 147583813 147583813 single base substitution G A intron_variant ESAD-UK 6 147584503 147584503 insertion of <=200bp - G intron_variant ESAD-UK 6 147584824 147584824 single base substitution T A intron_variant ESAD-UK 6 147585907 147585907 single base substitution A G intron_variant ESAD-UK 6 147586719 147586719 single base substitution T A intron_variant ESAD-UK 6 147591122 147591122 single base substitution C T intron_variant ESAD-UK 6 147591143 147591143 single base substitution A G intron_variant ESAD-UK 6 147591664 147591664 single base substitution A T intron_variant ESAD-UK 6 147592001 147592001 single base substitution G A intron_variant ESAD-UK 6 147592019 147592019 single base substitution A C intron_variant ESAD-UK 6 147592685 147592685 single base substitution A C intron_variant ESAD-UK 6 147593547 147593547 single base substitution T A intron_variant ESAD-UK 6 147593606 147593606 single base substitution C G intron_variant ESAD-UK 6 147593618 147593618 single base substitution G A intron_variant ESAD-UK 6 147594814 147594814 single base substitution G A intron_variant ESAD-UK 6 147595022 147595022 single base substitution A G intron_variant ESAD-UK 6 147595149 147595149 single base substitution T A intron_variant ESAD-UK 6 147597666 147597666 single base substitution T G intron_variant ESAD-UK 6 147598516 147598516 single base substitution A G intron_variant ESAD-UK 6 147599196 147599196 single base substitution G T intron_variant ESAD-UK 6 147599325 147599325 single base substitution A G 5_prime_UTR_variant ESAD-UK 6 147599325 147599325 single base substitution A G missense_variant T275A 823A>G ESAD-UK 6 147601404 147601404 single base substitution C T intron_variant ESAD-UK 6 147601651 147601651 single base substitution T A intron_variant ESAD-UK 6 147603033 147603033 single base substitution G T intron_variant ESAD-UK 6 147604180 147604180 single base substitution G C intron_variant ESAD-UK 6 147605352 147605352 single base substitution G C intron_variant ESAD-UK 6 147606395 147606395 single base substitution A G intron_variant ESAD-UK 6 147607813 147607813 single base substitution A G intron_variant ESAD-UK 6 147610641 147610641 insertion of <=200bp - T intron_variant ESAD-UK 6 147612433 147612433 deletion of <=200bp T - intron_variant ESAD-UK 6 147612655 147612655 single base substitution A G intron_variant ESAD-UK 6 147613334 147613334 single base substitution A G intron_variant ESAD-UK 6 147617016 147617016 single base substitution G A downstream_gene_variant ESAD-UK 6 147617016 147617016 single base substitution G A intron_variant ESAD-UK 6 147617017 147617017 single base substitution C T downstream_gene_variant ESAD-UK 6 147617017 147617017 single base substitution C T intron_variant ESAD-UK 6 147617878 147617878 deletion of <=200bp A - downstream_gene_variant ESAD-UK 6 147617878 147617878 deletion of <=200bp A - intron_variant ESAD-UK 6 147619657 147619657 single base substitution G A intron_variant ESAD-UK 6 147619989 147619989 single base substitution A G intron_variant ESAD-UK 6 147621350 147621350 single base substitution A T intron_variant ESAD-UK 6 147623702 147623702 single base substitution C T intron_variant ESAD-UK 6 147624236 147624236 single base substitution A G intron_variant ESAD-UK 6 147624953 147624953 single base substitution T C intron_variant ESAD-UK 6 147625566 147625566 single base substitution G T intron_variant ESAD-UK 6 147629556 147629556 single base substitution G T intron_variant ESAD-UK 6 147630429 147630429 single base substitution A G intron_variant ESAD-UK 6 147631872 147631872 insertion of <=200bp - T intron_variant ESAD-UK 6 147635264 147635264 insertion of <=200bp - A intron_variant ESAD-UK 6 147635624 147635624 deletion of <=200bp T - intron_variant ESAD-UK 6 147635739 147635739 single base substitution G T missense_variant D128Y 382G>T ESAD-UK 6 147635739 147635739 single base substitution G T missense_variant D457Y 1369G>T ESAD-UK 6 147636397 147636397 deletion of <=200bp T - intron_variant ESAD-UK 6 147637166 147637166 single base substitution G A intron_variant ESAD-UK 6 147642106 147642106 single base substitution G T intron_variant ESAD-UK 6 147642254 147642254 single base substitution T A intron_variant ESAD-UK 6 147643874 147643874 single base substitution T C intron_variant ESAD-UK 6 147643874 147643874 single base substitution T C upstream_gene_variant ESAD-UK 6 147644652 147644652 single base substitution C T intron_variant ESAD-UK 6 147644652 147644652 single base substitution C T upstream_gene_variant ESAD-UK 6 147645774 147645774 single base substitution G C intron_variant ESAD-UK 6 147645774 147645774 single base substitution G C upstream_gene_variant ESAD-UK 6 147649062 147649062 single base substitution C T intron_variant ESAD-UK 6 147652131 147652131 single base substitution T C intron_variant ESAD-UK 6 147654073 147654073 single base substitution C T intron_variant ESAD-UK 6 147654639 147654639 single base substitution G A intron_variant ESAD-UK 6 147656380 147656380 single base substitution A C intron_variant ESAD-UK 6 147657278 147657278 deletion of <=200bp T - intron_variant ESAD-UK 6 147659671 147659671 single base substitution C T intron_variant ESAD-UK 6 147660735 147660735 single base substitution G C intron_variant ESAD-UK 6 147660822 147660822 single base substitution C T intron_variant ESAD-UK 6 147661819 147661819 single base substitution T A intron_variant ESAD-UK 6 147667727 147667727 single base substitution T A intron_variant ESAD-UK 6 147668462 147668462 single base substitution G C intron_variant ESAD-UK 6 147668722 147668722 single base substitution C T intron_variant ESAD-UK 6 147669166 147669166 single base substitution A C intron_variant ESAD-UK 6 147670536 147670536 single base substitution C T intron_variant ESAD-UK 6 147671177 147671177 deletion of <=200bp A - intron_variant ESAD-UK 6 147671179 147671179 single base substitution A G intron_variant ESAD-UK 6 147673180 147673180 single base substitution C T intron_variant ESAD-UK 6 147673678 147673678 single base substitution C T intron_variant ESAD-UK 6 147675351 147675351 single base substitution G C intron_variant ESAD-UK 6 147676268 147676268 single base substitution G A intron_variant ESAD-UK 6 147676678 147676678 single base substitution G A intron_variant ESAD-UK 6 147677387 147677387 single base substitution G C intron_variant ESAD-UK 6 147678946 147678946 single base substitution A G intron_variant ESAD-UK 6 147679282 147679282 single base substitution C T intron_variant ESAD-UK 6 147681668 147681668 insertion of <=200bp - T downstream_gene_variant ESAD-UK 6 147681668 147681668 insertion of <=200bp - T intron_variant ESAD-UK 6 147682938 147682938 single base substitution C T downstream_gene_variant ESAD-UK 6 147682938 147682938 single base substitution C T intron_variant ESAD-UK 6 147683684 147683684 single base substitution A G downstream_gene_variant ESAD-UK 6 147683684 147683684 single base substitution A G intron_variant ESAD-UK 6 147687007 147687007 single base substitution G A downstream_gene_variant ESAD-UK 6 147687007 147687007 single base substitution G A intron_variant ESAD-UK 6 147689660 147689660 single base substitution T C downstream_gene_variant ESAD-UK 6 147689660 147689660 single base substitution T C intron_variant ESAD-UK 6 147690198 147690198 single base substitution A T intron_variant ESAD-UK 6 147694585 147694585 single base substitution G A intron_variant ESAD-UK 6 147695150 147695150 single base substitution G A intron_variant ESAD-UK 6 147698211 147698211 single base substitution A T intron_variant ESAD-UK 6 147699443 147699443 single base substitution A G intron_variant ESAD-UK 6 147700576 147700576 single base substitution A G intron_variant ESAD-UK 6 147701006 147701006 single base substitution A T intron_variant ESAD-UK 6 147701042 147701042 single base substitution G A intron_variant ESAD-UK 6 147702219 147702219 single base substitution T A intron_variant ESAD-UK 6 147702853 147702853 single base substitution A G intron_variant ESAD-UK 6 147704393 147704393 single base substitution C T intron_variant ESAD-UK 6 147706548 147706548 single base substitution G T 3_prime_UTR_variant ESAD-UK 6 147706548 147706548 single base substitution G T downstream_gene_variant ESAD-UK 6 147707796 147707796 single base substitution T A downstream_gene_variant ESAD-UK 6 147709505 147709505 single base substitution A G downstream_gene_variant ESCA-CN 6 147684814 147684814 single base substitution T A downstream_gene_variant ESCA-CN 6 147684814 147684814 single base substitution T A stop_gained C618* 1854T>A ESCA-CN 6 147684814 147684814 single base substitution T A stop_gained C910* 2730T>A ESCA-CN 6 147684814 147684814 single base substitution T A stop_gained C927* 2781T>A ESCA-CN 6 147684814 147684814 single base substitution T A stop_gained C963* 2889T>A GBM-US 6 147631323 147631323 single base substitution G T missense_variant D12Y 34G>T GBM-US 6 147631323 147631323 single base substitution G T missense_variant D341Y 1021G>T GBM-US 6 147704054 147704054 single base substitution G C missense_variant G1059R 3175G>C GBM-US 6 147704054 147704054 single base substitution G C missense_variant G1076R 3226G>C GBM-US 6 147704054 147704054 single base substitution G C missense_variant G1112R 3334G>C GBM-US 6 147704054 147704054 single base substitution G C missense_variant G767R 2299G>C KIRC-US 6 147588238 147588238 single base substitution T C 5_prime_UTR_variant KIRC-US 6 147588238 147588238 single base substitution T C missense_variant S217P 649T>C KIRC-US 6 147685200 147685200 single base substitution C T downstream_gene_variant KIRC-US 6 147685200 147685200 single base substitution C T synonymous_variant A648A 1944C>T KIRC-US 6 147685200 147685200 single base substitution C T synonymous_variant A940A 2820C>T KIRC-US 6 147685200 147685200 single base substitution C T synonymous_variant A957A 2871C>T KIRC-US 6 147685200 147685200 single base substitution C T synonymous_variant A993A 2979C>T KIRP-US 6 147637421 147637421 single base substitution G A synonymous_variant E231E 693G>A KIRP-US 6 147637421 147637421 single base substitution G A synonymous_variant E560E 1680G>A KIRP-US 6 147648298 147648298 single base substitution G C missense_variant D327H 979G>C KIRP-US 6 147648298 147648298 single base substitution G C missense_variant D656H 1966G>C KIRP-US 6 147648298 147648298 single base substitution G C upstream_gene_variant LICA-FR 6 147591213 147591213 single base substitution A T intron_variant LICA-FR 6 147596685 147596685 single base substitution C T intron_variant LICA-FR 6 147596753 147596753 single base substitution G A intron_variant LICA-FR 6 147596754 147596754 single base substitution C A intron_variant LICA-FR 6 147622092 147622092 insertion of <=200bp - A intron_variant LICA-FR 6 147626629 147626629 single base substitution C T intron_variant LICA-FR 6 147636640 147636640 single base substitution C A intron_variant LICA-FR 6 147636671 147636671 single base substitution A C missense_variant K146Q 436A>C LICA-FR 6 147636671 147636671 single base substitution A C missense_variant K475Q 1423A>C LICA-FR 6 147646382 147646382 single base substitution C T intron_variant LICA-FR 6 147646382 147646382 single base substitution C T upstream_gene_variant LICA-FR 6 147648347 147648347 single base substitution A G missense_variant Y13C 38A>G LICA-FR 6 147648347 147648347 single base substitution A G missense_variant Y343C 1028A>G LICA-FR 6 147648347 147648347 single base substitution A G missense_variant Y4C 11A>G LICA-FR 6 147648347 147648347 single base substitution A G missense_variant Y672C 2015A>G LICA-FR 6 147673335 147673335 single base substitution C A intron_variant LICA-FR 6 147703985 147703985 single base substitution G A missense_variant G1036S 3106G>A LICA-FR 6 147703985 147703985 single base substitution G A missense_variant G1053S 3157G>A LICA-FR 6 147703985 147703985 single base substitution G A missense_variant G1089S 3265G>A LICA-FR 6 147703985 147703985 single base substitution G A missense_variant G744S 2230G>A LICA-FR 6 147711411 147711411 single base substitution G C downstream_gene_variant LIHC-US 6 147631274 147631274 single base substitution A G 5_prime_UTR_variant LIHC-US 6 147631274 147631274 single base substitution A G synonymous_variant R324R 972A>G LIHC-US 6 147680286 147680286 single base substitution G T missense_variant R115L 344G>T LIHC-US 6 147680286 147680286 single base substitution G T missense_variant R116L 347G>T LIHC-US 6 147680286 147680286 single base substitution G T missense_variant R446L 1337G>T LIHC-US 6 147680286 147680286 single base substitution G T missense_variant R738L 2213G>T LIHC-US 6 147680286 147680286 single base substitution G T missense_variant R755L 2264G>T LIHC-US 6 147680286 147680286 single base substitution G T missense_variant R791L 2372G>T LINC-JP 6 147524044 147524044 single base substitution A G upstream_gene_variant LINC-JP 6 147534407 147534407 single base substitution C T intron_variant LINC-JP 6 147573510 147573510 single base substitution G A intron_variant LINC-JP 6 147595293 147595293 single base substitution A G intron_variant LINC-JP 6 147612810 147612810 single base substitution T A intron_variant LINC-JP 6 147635118 147635118 single base substitution C T missense_variant A415V 1244C>T LINC-JP 6 147635118 147635118 single base substitution C T missense_variant A86V 257C>T LINC-JP 6 147647528 147647528 single base substitution T G intron_variant LINC-JP 6 147647528 147647528 single base substitution T G upstream_gene_variant LINC-JP 6 147648206 147648206 single base substitution A T intron_variant LINC-JP 6 147648206 147648206 single base substitution A T upstream_gene_variant LINC-JP 6 147650246 147650246 single base substitution C A intron_variant LINC-JP 6 147654086 147654086 single base substitution C T intron_variant LINC-JP 6 147669888 147669888 single base substitution G A intron_variant LINC-JP 6 147674349 147674349 single base substitution T C intron_variant LINC-JP 6 147674496 147674496 single base substitution A G intron_variant LINC-JP 6 147674496 147674496 single base substitution A G synonymous_variant L419L 1257A>G LINC-JP 6 147674496 147674496 single base substitution A G synonymous_variant L728L 2184A>G LINC-JP 6 147674496 147674496 single base substitution A G synonymous_variant L764L 2292A>G LINC-JP 6 147674496 147674496 single base substitution A G synonymous_variant L88L 264A>G LINC-JP 6 147674496 147674496 single base substitution A G synonymous_variant L89L 267A>G LINC-JP 6 147674663 147674663 single base substitution G A intron_variant LINC-JP 6 147689595 147689595 single base substitution A G downstream_gene_variant LINC-JP 6 147689595 147689595 single base substitution A G intron_variant LIRI-JP 6 147520706 147520706 single base substitution T C upstream_gene_variant LIRI-JP 6 147521284 147521284 single base substitution T C upstream_gene_variant LIRI-JP 6 147521906 147521906 single base substitution T G upstream_gene_variant LIRI-JP 6 147522513 147522513 single base substitution G C upstream_gene_variant LIRI-JP 6 147525670 147525670 single base substitution T C start_lost M1T 2T>C LIRI-JP 6 147525670 147525670 single base substitution T C upstream_gene_variant LIRI-JP 6 147526854 147526854 single base substitution C T intron_variant LIRI-JP 6 147526854 147526854 single base substitution C T upstream_gene_variant LIRI-JP 6 147528195 147528196 deletion of <=200bp AT - intron_variant LIRI-JP 6 147528389 147528389 single base substitution C T intron_variant LIRI-JP 6 147528432 147528432 single base substitution A G intron_variant LIRI-JP 6 147529398 147529398 single base substitution C A intron_variant LIRI-JP 6 147531233 147531233 single base substitution A T intron_variant LIRI-JP 6 147537075 147537075 single base substitution T C intron_variant LIRI-JP 6 147537302 147537302 single base substitution C T intron_variant LIRI-JP 6 147537369 147537369 single base substitution A G intron_variant LIRI-JP 6 147537370 147537370 single base substitution A C intron_variant LIRI-JP 6 147537580 147537580 single base substitution G T intron_variant LIRI-JP 6 147538670 147538670 single base substitution A G intron_variant LIRI-JP 6 147539735 147539735 single base substitution G T intron_variant LIRI-JP 6 147541337 147541337 single base substitution C T intron_variant LIRI-JP 6 147543779 147543779 single base substitution T A intron_variant LIRI-JP 6 147546587 147546587 single base substitution G A intron_variant LIRI-JP 6 147547059 147547059 single base substitution C G intron_variant LIRI-JP 6 147547080 147547080 single base substitution G A intron_variant LIRI-JP 6 147548127 147548127 single base substitution A G intron_variant LIRI-JP 6 147549512 147549512 deletion of <=200bp A - intron_variant LIRI-JP 6 147551066 147551066 single base substitution T C intron_variant LIRI-JP 6 147554027 147554027 single base substitution T C intron_variant LIRI-JP 6 147554793 147554793 single base substitution A G intron_variant LIRI-JP 6 147555982 147555982 single base substitution A G intron_variant LIRI-JP 6 147556199 147556199 single base substitution A G intron_variant LIRI-JP 6 147556583 147556583 single base substitution A G intron_variant LIRI-JP 6 147558185 147558185 single base substitution T G intron_variant LIRI-JP 6 147558589 147558589 single base substitution T C intron_variant LIRI-JP 6 147559722 147559722 single base substitution C G intron_variant LIRI-JP 6 147559908 147559908 single base substitution A T intron_variant LIRI-JP 6 147560242 147560242 single base substitution A C intron_variant LIRI-JP 6 147562313 147562313 single base substitution A G intron_variant LIRI-JP 6 147566547 147566547 single base substitution C T intron_variant LIRI-JP 6 147569764 147569764 single base substitution A T intron_variant LIRI-JP 6 147570065 147570065 single base substitution G A intron_variant LIRI-JP 6 147570432 147570432 single base substitution T C intron_variant LIRI-JP 6 147570854 147570854 single base substitution A T intron_variant LIRI-JP 6 147571410 147571410 single base substitution G T intron_variant LIRI-JP 6 147576242 147576242 single base substitution G A intron_variant LIRI-JP 6 147582336 147582336 single base substitution A G intron_variant LIRI-JP 6 147582672 147582672 single base substitution A G intron_variant LIRI-JP 6 147583714 147583714 deletion of <=200bp A - intron_variant LIRI-JP 6 147585037 147585037 single base substitution G A intron_variant LIRI-JP 6 147585608 147585608 single base substitution G A intron_variant LIRI-JP 6 147587853 147587853 single base substitution G A intron_variant LIRI-JP 6 147588140 147588140 single base substitution T C intron_variant LIRI-JP 6 147588353 147588353 single base substitution G A intron_variant LIRI-JP 6 147590093 147590093 single base substitution A G intron_variant LIRI-JP 6 147594322 147594322 single base substitution C G intron_variant LIRI-JP 6 147594994 147594994 single base substitution A G intron_variant LIRI-JP 6 147596352 147596352 single base substitution T C intron_variant LIRI-JP 6 147597686 147597686 single base substitution A G intron_variant LIRI-JP 6 147597761 147597761 insertion of <=200bp - AG intron_variant LIRI-JP 6 147598602 147598602 single base substitution G T intron_variant LIRI-JP 6 147602737 147602737 single base substitution A T intron_variant LIRI-JP 6 147602917 147602917 single base substitution T C intron_variant LIRI-JP 6 147603014 147603014 single base substitution G T intron_variant LIRI-JP 6 147604504 147604504 single base substitution A G intron_variant LIRI-JP 6 147605199 147605199 single base substitution T C intron_variant LIRI-JP 6 147605702 147605702 single base substitution T C intron_variant LIRI-JP 6 147607456 147607456 single base substitution C G intron_variant LIRI-JP 6 147607636 147607636 single base substitution G C intron_variant LIRI-JP 6 147613264 147613264 single base substitution A C intron_variant LIRI-JP 6 147614716 147614716 single base substitution A C downstream_gene_variant LIRI-JP 6 147614716 147614716 single base substitution A C intron_variant LIRI-JP 6 147615302 147615302 single base substitution A G downstream_gene_variant LIRI-JP 6 147615302 147615302 single base substitution A G intron_variant LIRI-JP 6 147615393 147615393 single base substitution C G downstream_gene_variant LIRI-JP 6 147615393 147615393 single base substitution C G intron_variant LIRI-JP 6 147618246 147618246 single base substitution A G downstream_gene_variant LIRI-JP 6 147618246 147618246 single base substitution A G intron_variant LIRI-JP 6 147620072 147620072 single base substitution A G intron_variant LIRI-JP 6 147621527 147621527 single base substitution C G intron_variant LIRI-JP 6 147624083 147624083 insertion of <=200bp - T intron_variant LIRI-JP 6 147625119 147625119 single base substitution T A intron_variant LIRI-JP 6 147626519 147626519 single base substitution C T intron_variant LIRI-JP 6 147628048 147628048 single base substitution C A intron_variant LIRI-JP 6 147628476 147628476 single base substitution C A intron_variant LIRI-JP 6 147628791 147628791 single base substitution G A intron_variant LIRI-JP 6 147629205 147629205 single base substitution A C intron_variant LIRI-JP 6 147629370 147629370 single base substitution A G intron_variant LIRI-JP 6 147632350 147632350 single base substitution C T intron_variant LIRI-JP 6 147633309 147633309 single base substitution A C intron_variant LIRI-JP 6 147635073 147635073 single base substitution C A missense_variant T400K 1199C>A LIRI-JP 6 147635073 147635073 single base substitution C A missense_variant T71K 212C>A LIRI-JP 6 147637287 147637287 single base substitution G T intron_variant LIRI-JP 6 147640132 147640132 single base substitution C T intron_variant LIRI-JP 6 147640541 147640541 single base substitution A G intron_variant LIRI-JP 6 147641935 147641935 single base substitution A T intron_variant LIRI-JP 6 147642981 147642981 single base substitution G A intron_variant LIRI-JP 6 147643465 147643465 single base substitution G A intron_variant LIRI-JP 6 147643465 147643465 single base substitution G A upstream_gene_variant LIRI-JP 6 147647111 147647111 single base substitution T A intron_variant LIRI-JP 6 147647111 147647111 single base substitution T A upstream_gene_variant LIRI-JP 6 147647239 147647239 single base substitution A C intron_variant LIRI-JP 6 147647239 147647239 single base substitution A C upstream_gene_variant LIRI-JP 6 147647735 147647735 single base substitution A G intron_variant LIRI-JP 6 147647735 147647735 single base substitution A G upstream_gene_variant LIRI-JP 6 147647959 147647959 single base substitution A G intron_variant LIRI-JP 6 147647959 147647959 single base substitution A G upstream_gene_variant LIRI-JP 6 147649711 147649711 single base substitution T C intron_variant LIRI-JP 6 147649781 147649781 single base substitution A G intron_variant LIRI-JP 6 147655554 147655554 single base substitution A G intron_variant LIRI-JP 6 147655659 147655659 single base substitution A G intron_variant LIRI-JP 6 147656267 147656267 single base substitution G A intron_variant LIRI-JP 6 147656305 147656305 single base substitution C T intron_variant LIRI-JP 6 147656473 147656473 single base substitution T C intron_variant LIRI-JP 6 147658076 147658076 deletion of <=200bp C - intron_variant LIRI-JP 6 147660098 147660098 insertion of <=200bp - T intron_variant LIRI-JP 6 147661857 147661857 single base substitution G T intron_variant LIRI-JP 6 147662368 147662368 single base substitution A T intron_variant LIRI-JP 6 147662541 147662541 single base substitution G A intron_variant LIRI-JP 6 147663811 147663811 single base substitution T C intron_variant LIRI-JP 6 147665313 147665313 single base substitution A T intron_variant LIRI-JP 6 147669110 147669110 single base substitution A G intron_variant LIRI-JP 6 147675492 147675492 single base substitution G A intron_variant LIRI-JP 6 147675622 147675622 insertion of <=200bp - T intron_variant LIRI-JP 6 147676720 147676720 single base substitution C T intron_variant LIRI-JP 6 147678557 147678557 single base substitution A G intron_variant LIRI-JP 6 147680036 147680036 single base substitution T C intron_variant LIRI-JP 6 147685499 147685499 single base substitution A T downstream_gene_variant LIRI-JP 6 147685499 147685499 single base substitution A T intron_variant LIRI-JP 6 147686785 147686785 single base substitution A G downstream_gene_variant LIRI-JP 6 147686785 147686785 single base substitution A G intron_variant LIRI-JP 6 147687729 147687729 single base substitution G T downstream_gene_variant LIRI-JP 6 147687729 147687729 single base substitution G T intron_variant LIRI-JP 6 147688393 147688393 single base substitution G A downstream_gene_variant LIRI-JP 6 147688393 147688393 single base substitution G A intron_variant LIRI-JP 6 147689337 147689337 single base substitution A G downstream_gene_variant LIRI-JP 6 147689337 147689337 single base substitution A G intron_variant LIRI-JP 6 147689938 147689938 single base substitution A G intron_variant LIRI-JP 6 147690524 147690524 single base substitution A G intron_variant LIRI-JP 6 147690735 147690735 single base substitution C T intron_variant LIRI-JP 6 147692160 147692160 single base substitution A G intron_variant LIRI-JP 6 147692614 147692614 single base substitution C A intron_variant LIRI-JP 6 147694815 147694815 single base substitution T C intron_variant LIRI-JP 6 147695441 147695441 single base substitution T A intron_variant LIRI-JP 6 147698425 147698425 single base substitution A G intron_variant LIRI-JP 6 147700472 147700472 single base substitution G C intron_variant LIRI-JP 6 147700501 147700501 single base substitution A G intron_variant LIRI-JP 6 147701425 147701425 single base substitution C A intron_variant LIRI-JP 6 147702061 147702061 single base substitution A G intron_variant LIRI-JP 6 147702555 147702555 single base substitution C T intron_variant LIRI-JP 6 147703619 147703619 single base substitution A G intron_variant LIRI-JP 6 147706766 147706766 single base substitution A G 3_prime_UTR_variant LIRI-JP 6 147706766 147706766 single base substitution A G downstream_gene_variant LIRI-JP 6 147707168 147707168 single base substitution A G downstream_gene_variant LIRI-JP 6 147707345 147707345 single base substitution A C downstream_gene_variant LIRI-JP 6 147708054 147708058 deletion of <=200bp TTAAC - downstream_gene_variant LIRI-JP 6 147708914 147708914 single base substitution A C downstream_gene_variant LIRI-JP 6 147709249 147709249 single base substitution A T downstream_gene_variant LIRI-JP 6 147709528 147709528 single base substitution A G downstream_gene_variant LIRI-JP 6 147710199 147710199 single base substitution G A downstream_gene_variant LIRI-JP 6 147711134 147711134 single base substitution A G downstream_gene_variant LUSC-KR 6 147520630 147520630 single base substitution T C upstream_gene_variant LUSC-KR 6 147524559 147524559 single base substitution G T upstream_gene_variant LUSC-KR 6 147530205 147530205 single base substitution C T intron_variant LUSC-KR 6 147532477 147532477 single base substitution C T intron_variant LUSC-KR 6 147538581 147538581 single base substitution G A intron_variant LUSC-KR 6 147542664 147542664 single base substitution G C intron_variant LUSC-KR 6 147544736 147544736 single base substitution C T intron_variant LUSC-KR 6 147548473 147548473 single base substitution G C intron_variant LUSC-KR 6 147555005 147555005 single base substitution A T intron_variant LUSC-KR 6 147560974 147560974 single base substitution C T intron_variant LUSC-KR 6 147564459 147564459 single base substitution G A intron_variant LUSC-KR 6 147565581 147565581 single base substitution C T intron_variant LUSC-KR 6 147565955 147565955 single base substitution A T intron_variant LUSC-KR 6 147566179 147566179 single base substitution A G intron_variant LUSC-KR 6 147572716 147572716 single base substitution G A intron_variant LUSC-KR 6 147586678 147586678 single base substitution G T intron_variant LUSC-KR 6 147590652 147590652 single base substitution A G intron_variant LUSC-KR 6 147593963 147593963 single base substitution G C intron_variant LUSC-KR 6 147594008 147594008 single base substitution A T intron_variant LUSC-KR 6 147595227 147595227 single base substitution G T intron_variant LUSC-KR 6 147596719 147596719 single base substitution A T intron_variant LUSC-KR 6 147596780 147596780 single base substitution A T intron_variant LUSC-KR 6 147605169 147605169 single base substitution A T intron_variant LUSC-KR 6 147606313 147606313 single base substitution A G intron_variant LUSC-KR 6 147611624 147611624 single base substitution T A intron_variant LUSC-KR 6 147612881 147612881 single base substitution T C intron_variant LUSC-KR 6 147614281 147614281 single base substitution G T 3_prime_UTR_variant LUSC-KR 6 147614281 147614281 single base substitution G T intron_variant LUSC-KR 6 147615290 147615290 single base substitution C A downstream_gene_variant LUSC-KR 6 147615290 147615290 single base substitution C A intron_variant LUSC-KR 6 147616745 147616745 single base substitution C G downstream_gene_variant LUSC-KR 6 147616745 147616745 single base substitution C G intron_variant LUSC-KR 6 147617040 147617040 single base substitution G T downstream_gene_variant LUSC-KR 6 147617040 147617040 single base substitution G T intron_variant LUSC-KR 6 147617041 147617041 single base substitution G T downstream_gene_variant LUSC-KR 6 147617041 147617041 single base substitution G T intron_variant LUSC-KR 6 147620670 147620670 single base substitution A T intron_variant LUSC-KR 6 147629380 147629380 single base substitution A C intron_variant LUSC-KR 6 147631201 147631201 single base substitution A G intron_variant LUSC-KR 6 147632305 147632305 single base substitution G C intron_variant LUSC-KR 6 147632769 147632769 single base substitution A C intron_variant LUSC-KR 6 147633080 147633080 single base substitution A G intron_variant LUSC-KR 6 147635385 147635385 single base substitution C G intron_variant LUSC-KR 6 147635413 147635413 single base substitution A G missense_variant N107S 320A>G LUSC-KR 6 147635413 147635413 single base substitution A G missense_variant N436S 1307A>G LUSC-KR 6 147635547 147635547 single base substitution C T intron_variant LUSC-KR 6 147637397 147637397 single base substitution T A missense_variant N223K 669T>A LUSC-KR 6 147637397 147637397 single base substitution T A missense_variant N552K 1656T>A LUSC-KR 6 147638665 147638665 single base substitution A T intron_variant LUSC-KR 6 147642314 147642314 single base substitution G A intron_variant LUSC-KR 6 147644687 147644687 single base substitution C T intron_variant LUSC-KR 6 147644687 147644687 single base substitution C T upstream_gene_variant LUSC-KR 6 147644725 147644725 single base substitution G A intron_variant LUSC-KR 6 147644725 147644725 single base substitution G A upstream_gene_variant LUSC-KR 6 147646625 147646625 single base substitution C G intron_variant LUSC-KR 6 147646625 147646625 single base substitution C G upstream_gene_variant LUSC-KR 6 147647197 147647197 single base substitution G T intron_variant LUSC-KR 6 147647197 147647197 single base substitution G T upstream_gene_variant LUSC-KR 6 147649812 147649812 single base substitution C T intron_variant LUSC-KR 6 147650938 147650938 single base substitution T A intron_variant LUSC-KR 6 147651978 147651978 single base substitution A G intron_variant LUSC-KR 6 147656877 147656877 single base substitution C T intron_variant LUSC-KR 6 147671575 147671575 single base substitution A T intron_variant LUSC-KR 6 147673310 147673310 single base substitution G A intron_variant LUSC-KR 6 147680359 147680359 single base substitution A G synonymous_variant L139L 417A>G LUSC-KR 6 147680359 147680359 single base substitution A G synonymous_variant L140L 420A>G LUSC-KR 6 147680359 147680359 single base substitution A G synonymous_variant L470L 1410A>G LUSC-KR 6 147680359 147680359 single base substitution A G synonymous_variant L762L 2286A>G LUSC-KR 6 147680359 147680359 single base substitution A G synonymous_variant L779L 2337A>G LUSC-KR 6 147680359 147680359 single base substitution A G synonymous_variant L815L 2445A>G LUSC-KR 6 147681298 147681298 single base substitution G C downstream_gene_variant LUSC-KR 6 147681298 147681298 single base substitution G C intron_variant LUSC-KR 6 147694589 147694589 single base substitution G A intron_variant LUSC-KR 6 147695051 147695051 single base substitution G C intron_variant LUSC-KR 6 147702416 147702416 single base substitution G A intron_variant LUSC-KR 6 147706791 147706791 single base substitution G A 3_prime_UTR_variant LUSC-KR 6 147706791 147706791 single base substitution G A downstream_gene_variant LUSC-KR 6 147708073 147708073 single base substitution C T downstream_gene_variant LUSC-US 6 147581765 147581765 single base substitution A T 5_prime_UTR_variant LUSC-US 6 147581765 147581765 single base substitution A T missense_variant H149L 446A>T LUSC-US 6 147636666 147636666 single base substitution T G stop_gained L144* 431T>G LUSC-US 6 147636666 147636666 single base substitution T G stop_gained L473* 1418T>G LUSC-US 6 147637480 147637480 single base substitution A T missense_variant Q251L 752A>T LUSC-US 6 147637480 147637480 single base substitution A T missense_variant Q580L 1739A>T LUSC-US 6 147680256 147680256 single base substitution C T missense_variant S105L 314C>T LUSC-US 6 147680256 147680256 single base substitution C T missense_variant S106L 317C>T LUSC-US 6 147680256 147680256 single base substitution C T missense_variant S436L 1307C>T LUSC-US 6 147680256 147680256 single base substitution C T missense_variant S728L 2183C>T LUSC-US 6 147680256 147680256 single base substitution C T missense_variant S745L 2234C>T LUSC-US 6 147680256 147680256 single base substitution C T missense_variant S781L 2342C>T LUSC-US 6 147685233 147685233 single base substitution A G downstream_gene_variant LUSC-US 6 147685233 147685233 single base substitution A G synonymous_variant A1004A 3012A>G LUSC-US 6 147685233 147685233 single base substitution A G synonymous_variant A659A 1977A>G LUSC-US 6 147685233 147685233 single base substitution A G synonymous_variant A951A 2853A>G LUSC-US 6 147685233 147685233 single base substitution A G synonymous_variant A968A 2904A>G MALY-DE 6 147523696 147523696 single base substitution A C upstream_gene_variant MALY-DE 6 147523696 147523696 single base substitution A G upstream_gene_variant MALY-DE 6 147527868 147527868 single base substitution G C intron_variant MALY-DE 6 147537074 147537074 single base substitution T G intron_variant MALY-DE 6 147540341 147540341 single base substitution T G intron_variant MALY-DE 6 147543865 147543865 single base substitution T C intron_variant MALY-DE 6 147547126 147547126 single base substitution T A intron_variant MALY-DE 6 147550325 147550325 single base substitution T C intron_variant MALY-DE 6 147551796 147551797 deletion of <=200bp TG - intron_variant MALY-DE 6 147554646 147554646 single base substitution A C intron_variant MALY-DE 6 147554900 147554900 single base substitution A G intron_variant MALY-DE 6 147566345 147566345 insertion of <=200bp - G intron_variant MALY-DE 6 147566614 147566614 single base substitution T C intron_variant MALY-DE 6 147571012 147571012 single base substitution C A intron_variant MALY-DE 6 147571548 147571548 insertion of <=200bp - A intron_variant MALY-DE 6 147571905 147571905 single base substitution T G intron_variant MALY-DE 6 147575663 147575663 deletion of <=200bp T - intron_variant MALY-DE 6 147581199 147581199 single base substitution A T intron_variant MALY-DE 6 147595368 147595368 deletion of <=200bp G - intron_variant MALY-DE 6 147596915 147596915 single base substitution G A intron_variant MALY-DE 6 147598312 147598312 single base substitution A T intron_variant MALY-DE 6 147606029 147606029 single base substitution C T intron_variant MALY-DE 6 147608940 147608940 single base substitution C T intron_variant MALY-DE 6 147611610 147611610 single base substitution A G intron_variant MALY-DE 6 147625323 147625323 single base substitution A G intron_variant MALY-DE 6 147638394 147638394 single base substitution T A intron_variant MALY-DE 6 147642213 147642213 single base substitution T C intron_variant MALY-DE 6 147643493 147643493 insertion of <=200bp - TAA intron_variant MALY-DE 6 147643493 147643493 insertion of <=200bp - TAA upstream_gene_variant MALY-DE 6 147643527 147643527 single base substitution G A intron_variant MALY-DE 6 147643527 147643527 single base substitution G A upstream_gene_variant MALY-DE 6 147645285 147645286 deletion of <=200bp CA - intron_variant MALY-DE 6 147645285 147645286 deletion of <=200bp CA - upstream_gene_variant MALY-DE 6 147646503 147646503 single base substitution A G intron_variant MALY-DE 6 147646503 147646503 single base substitution A G upstream_gene_variant MALY-DE 6 147646763 147646763 single base substitution A T intron_variant MALY-DE 6 147646763 147646763 single base substitution A T upstream_gene_variant MALY-DE 6 147652896 147652896 single base substitution A G intron_variant MALY-DE 6 147666072 147666072 single base substitution T A intron_variant MALY-DE 6 147671005 147671005 single base substitution G T intron_variant MALY-DE 6 147684800 147684800 single base substitution C T downstream_gene_variant MALY-DE 6 147684800 147684800 single base substitution C T missense_variant L614F 1840C>T MALY-DE 6 147684800 147684800 single base substitution C T missense_variant L906F 2716C>T MALY-DE 6 147684800 147684800 single base substitution C T missense_variant L923F 2767C>T MALY-DE 6 147684800 147684800 single base substitution C T missense_variant L959F 2875C>T MALY-DE 6 147690374 147690374 single base substitution A C intron_variant MALY-DE 6 147691886 147691886 single base substitution G A intron_variant MALY-DE 6 147693384 147693384 single base substitution G A intron_variant MALY-DE 6 147699113 147699113 single base substitution T G intron_variant MALY-DE 6 147709946 147709946 insertion of <=200bp - AT downstream_gene_variant MALY-DE 6 147710014 147710014 deletion of <=200bp A - downstream_gene_variant MALY-DE 6 147711450 147711450 deletion of <=200bp T - downstream_gene_variant MALY-DE 6 147711627 147711627 insertion of <=200bp - AA downstream_gene_variant MELA-AU 6 147520823 147520823 single base substitution C T upstream_gene_variant MELA-AU 6 147520936 147520936 single base substitution G A upstream_gene_variant MELA-AU 6 147521171 147521171 single base substitution C T upstream_gene_variant MELA-AU 6 147522101 147522101 single base substitution G A upstream_gene_variant MELA-AU 6 147522770 147522770 single base substitution C T upstream_gene_variant MELA-AU 6 147523116 147523116 single base substitution G A upstream_gene_variant MELA-AU 6 147523613 147523613 single base substitution G A upstream_gene_variant MELA-AU 6 147523614 147523614 single base substitution G A upstream_gene_variant MELA-AU 6 147523875 147523875 single base substitution C T upstream_gene_variant MELA-AU 6 147525718 147525718 single base substitution C A stop_gained S17* 50C>A MELA-AU 6 147525718 147525718 single base substitution C A upstream_gene_variant MELA-AU 6 147526514 147526514 single base substitution A G intron_variant MELA-AU 6 147526514 147526514 single base substitution A G upstream_gene_variant MELA-AU 6 147526879 147526879 single base substitution A G intron_variant MELA-AU 6 147526879 147526879 single base substitution A G upstream_gene_variant MELA-AU 6 147526948 147526948 single base substitution T G intron_variant MELA-AU 6 147526948 147526948 single base substitution T G upstream_gene_variant MELA-AU 6 147529461 147529461 single base substitution T A intron_variant MELA-AU 6 147531856 147531857 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 147534637 147534637 single base substitution C T intron_variant MELA-AU 6 147536244 147536244 single base substitution A G intron_variant MELA-AU 6 147537783 147537783 single base substitution T C intron_variant MELA-AU 6 147538152 147538152 single base substitution C T intron_variant MELA-AU 6 147538542 147538542 single base substitution C T intron_variant MELA-AU 6 147538610 147538610 single base substitution C A intron_variant MELA-AU 6 147538610 147538611 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 147539540 147539540 single base substitution C T intron_variant MELA-AU 6 147539570 147539570 single base substitution C T intron_variant MELA-AU 6 147539629 147539629 single base substitution C T intron_variant MELA-AU 6 147541639 147541643 deletion of <=200bp TATAT - intron_variant MELA-AU 6 147541686 147541686 single base substitution C G intron_variant MELA-AU 6 147541855 147541855 single base substitution C T intron_variant MELA-AU 6 147544187 147544187 single base substitution C T intron_variant MELA-AU 6 147545359 147545359 single base substitution C T intron_variant MELA-AU 6 147545965 147545965 single base substitution C T intron_variant MELA-AU 6 147548193 147548193 single base substitution G A intron_variant MELA-AU 6 147549710 147549710 single base substitution C T intron_variant MELA-AU 6 147550485 147550485 single base substitution T C intron_variant MELA-AU 6 147552845 147552845 single base substitution G A intron_variant MELA-AU 6 147552849 147552849 single base substitution T G intron_variant MELA-AU 6 147552960 147552960 single base substitution C T intron_variant MELA-AU 6 147553169 147553169 single base substitution C T intron_variant MELA-AU 6 147553964 147553964 single base substitution T G intron_variant MELA-AU 6 147554301 147554302 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 6 147554450 147554450 single base substitution C T intron_variant MELA-AU 6 147555071 147555071 single base substitution C T intron_variant MELA-AU 6 147555517 147555517 single base substitution T C intron_variant MELA-AU 6 147555811 147555811 single base substitution C T intron_variant MELA-AU 6 147556635 147556635 single base substitution T C intron_variant MELA-AU 6 147557229 147557229 single base substitution C T intron_variant MELA-AU 6 147557340 147557340 single base substitution T G intron_variant MELA-AU 6 147557857 147557857 single base substitution C T intron_variant MELA-AU 6 147558111 147558111 single base substitution A G intron_variant MELA-AU 6 147559700 147559700 single base substitution T C intron_variant MELA-AU 6 147560530 147560530 single base substitution C T intron_variant MELA-AU 6 147560974 147560974 single base substitution C T intron_variant MELA-AU 6 147561168 147561168 single base substitution C T intron_variant MELA-AU 6 147561274 147561274 single base substitution C T intron_variant MELA-AU 6 147561587 147561587 single base substitution T C intron_variant MELA-AU 6 147561709 147561709 single base substitution C T intron_variant MELA-AU 6 147562308 147562308 single base substitution C T intron_variant MELA-AU 6 147562403 147562403 single base substitution T A intron_variant MELA-AU 6 147562718 147562718 single base substitution A T intron_variant MELA-AU 6 147563210 147563210 single base substitution C T intron_variant MELA-AU 6 147563594 147563595 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 147564277 147564277 single base substitution C T intron_variant MELA-AU 6 147564413 147564413 single base substitution C T intron_variant MELA-AU 6 147564494 147564494 single base substitution C T intron_variant MELA-AU 6 147564654 147564654 single base substitution C T intron_variant MELA-AU 6 147565228 147565228 single base substitution G A intron_variant MELA-AU 6 147566202 147566202 deletion of <=200bp C - intron_variant MELA-AU 6 147566320 147566320 single base substitution C T intron_variant MELA-AU 6 147567319 147567319 single base substitution T C intron_variant MELA-AU 6 147567448 147567470 deletion of <=200bp ATGTTAAGTTTTTGCATAAGTTT - intron_variant MELA-AU 6 147567972 147567972 single base substitution T G intron_variant MELA-AU 6 147568068 147568068 single base substitution C T intron_variant MELA-AU 6 147568409 147568409 single base substitution G A intron_variant MELA-AU 6 147568852 147568852 single base substitution C T intron_variant MELA-AU 6 147569164 147569164 single base substitution C T intron_variant MELA-AU 6 147569339 147569339 single base substitution C T intron_variant MELA-AU 6 147569594 147569594 single base substitution T A intron_variant MELA-AU 6 147569769 147569769 single base substitution C T intron_variant MELA-AU 6 147569939 147569939 single base substitution T C intron_variant MELA-AU 6 147570386 147570386 single base substitution C T intron_variant MELA-AU 6 147572540 147572540 single base substitution C T intron_variant MELA-AU 6 147572760 147572760 single base substitution C T intron_variant MELA-AU 6 147574392 147574392 single base substitution C T intron_variant MELA-AU 6 147575934 147575934 single base substitution A G intron_variant MELA-AU 6 147576295 147576295 single base substitution C T intron_variant MELA-AU 6 147576647 147576647 single base substitution T C intron_variant MELA-AU 6 147578628 147578628 single base substitution T C intron_variant MELA-AU 6 147579153 147579154 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 147579481 147579481 single base substitution C T intron_variant MELA-AU 6 147579611 147579611 single base substitution C T intron_variant MELA-AU 6 147579672 147579672 single base substitution C T intron_variant MELA-AU 6 147581725 147581725 single base substitution T A intron_variant MELA-AU 6 147582350 147582350 single base substitution T A intron_variant MELA-AU 6 147584122 147584123 multiple base substitution (>=2bp and <=200bp) CT AC intron_variant MELA-AU 6 147584254 147584254 single base substitution T C intron_variant MELA-AU 6 147584273 147584273 deletion of <=200bp A - intron_variant MELA-AU 6 147584513 147584513 single base substitution C T intron_variant MELA-AU 6 147584733 147584733 single base substitution C G intron_variant MELA-AU 6 147585428 147585428 single base substitution T C intron_variant MELA-AU 6 147586013 147586013 single base substitution T G intron_variant MELA-AU 6 147586731 147586731 single base substitution G A intron_variant MELA-AU 6 147587559 147587559 single base substitution C T intron_variant MELA-AU 6 147587567 147587567 single base substitution G A intron_variant MELA-AU 6 147588683 147588683 single base substitution C T intron_variant MELA-AU 6 147588850 147588850 single base substitution C T intron_variant MELA-AU 6 147589667 147589667 single base substitution C T intron_variant MELA-AU 6 147590899 147590899 single base substitution A T intron_variant MELA-AU 6 147591002 147591002 single base substitution C T intron_variant MELA-AU 6 147591711 147591711 single base substitution A T intron_variant MELA-AU 6 147597752 147597752 single base substitution T A intron_variant MELA-AU 6 147598888 147598888 single base substitution G C intron_variant MELA-AU 6 147599223 147599223 single base substitution C T 5_prime_UTR_variant MELA-AU 6 147599223 147599223 single base substitution C T missense_variant H241Y 721C>T MELA-AU 6 147600522 147600522 single base substitution C T intron_variant MELA-AU 6 147600936 147600936 single base substitution T A intron_variant MELA-AU 6 147601159 147601159 single base substitution A C intron_variant MELA-AU 6 147601454 147601454 single base substitution C T intron_variant MELA-AU 6 147601965 147601965 single base substitution C T intron_variant MELA-AU 6 147602117 147602117 single base substitution C T intron_variant MELA-AU 6 147602302 147602302 single base substitution C A intron_variant MELA-AU 6 147602795 147602795 single base substitution A G intron_variant MELA-AU 6 147603094 147603094 single base substitution G A intron_variant MELA-AU 6 147603454 147603454 single base substitution G A intron_variant MELA-AU 6 147604215 147604215 single base substitution G A intron_variant MELA-AU 6 147604572 147604572 single base substitution C T intron_variant MELA-AU 6 147605432 147605432 single base substitution T C intron_variant MELA-AU 6 147605851 147605851 single base substitution C T intron_variant MELA-AU 6 147608142 147608151 deletion of <=200bp TTTAAAATTT - intron_variant MELA-AU 6 147609101 147609101 single base substitution C T intron_variant MELA-AU 6 147611238 147611238 single base substitution A G intron_variant MELA-AU 6 147611436 147611436 single base substitution G A intron_variant MELA-AU 6 147611443 147611443 single base substitution A G intron_variant MELA-AU 6 147612367 147612367 single base substitution G A intron_variant MELA-AU 6 147612544 147612544 single base substitution C T intron_variant MELA-AU 6 147612581 147612581 single base substitution G A intron_variant MELA-AU 6 147613688 147613688 single base substitution C T 3_prime_UTR_variant MELA-AU 6 147613688 147613688 single base substitution C T intron_variant MELA-AU 6 147614164 147614164 single base substitution C T 3_prime_UTR_variant MELA-AU 6 147614164 147614164 single base substitution C T intron_variant MELA-AU 6 147614372 147614372 single base substitution G A 3_prime_UTR_variant MELA-AU 6 147614372 147614372 single base substitution G A intron_variant MELA-AU 6 147615382 147615383 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 147615382 147615383 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 147615409 147615409 single base substitution C T downstream_gene_variant MELA-AU 6 147615409 147615409 single base substitution C T intron_variant MELA-AU 6 147616467 147616467 single base substitution C T downstream_gene_variant MELA-AU 6 147616467 147616467 single base substitution C T intron_variant MELA-AU 6 147616503 147616503 single base substitution C T downstream_gene_variant MELA-AU 6 147616503 147616503 single base substitution C T intron_variant MELA-AU 6 147617298 147617298 single base substitution C T downstream_gene_variant MELA-AU 6 147617298 147617298 single base substitution C T intron_variant MELA-AU 6 147617841 147617841 single base substitution T A downstream_gene_variant MELA-AU 6 147617841 147617841 single base substitution T A intron_variant MELA-AU 6 147618864 147618864 single base substitution G A downstream_gene_variant MELA-AU 6 147618864 147618864 single base substitution G A intron_variant MELA-AU 6 147618916 147618916 single base substitution C T downstream_gene_variant MELA-AU 6 147618916 147618916 single base substitution C T intron_variant MELA-AU 6 147619770 147619770 single base substitution T C intron_variant MELA-AU 6 147620852 147620852 single base substitution G C intron_variant MELA-AU 6 147621261 147621261 single base substitution T G intron_variant MELA-AU 6 147621392 147621392 single base substitution C T intron_variant MELA-AU 6 147622209 147622210 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 147622253 147622253 single base substitution T A intron_variant MELA-AU 6 147623700 147623701 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 147623919 147623919 single base substitution C T intron_variant MELA-AU 6 147624004 147624004 single base substitution G A intron_variant MELA-AU 6 147624348 147624348 single base substitution C T intron_variant MELA-AU 6 147624411 147624411 single base substitution C T intron_variant MELA-AU 6 147624525 147624526 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 147625168 147625168 single base substitution C T intron_variant MELA-AU 6 147625259 147625259 single base substitution C G intron_variant MELA-AU 6 147626776 147626776 single base substitution C T intron_variant MELA-AU 6 147627298 147627298 single base substitution C T intron_variant MELA-AU 6 147629260 147629260 single base substitution C T intron_variant MELA-AU 6 147630539 147630539 single base substitution A G intron_variant MELA-AU 6 147631855 147631855 single base substitution C T intron_variant MELA-AU 6 147633979 147633979 single base substitution T C intron_variant MELA-AU 6 147633980 147633980 single base substitution C T intron_variant MELA-AU 6 147634221 147634221 single base substitution C T intron_variant MELA-AU 6 147635039 147635039 single base substitution C T missense_variant P389S 1165C>T MELA-AU 6 147635039 147635039 single base substitution C T missense_variant P60S 178C>T MELA-AU 6 147635487 147635487 single base substitution C T intron_variant MELA-AU 6 147635599 147635599 single base substitution T G intron_variant MELA-AU 6 147635618 147635618 single base substitution C T intron_variant MELA-AU 6 147636204 147636204 single base substitution A G intron_variant MELA-AU 6 147636375 147636375 single base substitution T A intron_variant MELA-AU 6 147636395 147636395 single base substitution C A intron_variant MELA-AU 6 147636608 147636608 single base substitution C T intron_variant MELA-AU 6 147637863 147637863 single base substitution G A intron_variant MELA-AU 6 147638060 147638060 single base substitution T G intron_variant MELA-AU 6 147638534 147638534 single base substitution A T intron_variant MELA-AU 6 147638578 147638579 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 147638821 147638821 single base substitution T G intron_variant MELA-AU 6 147639020 147639020 single base substitution C T intron_variant MELA-AU 6 147639614 147639614 single base substitution C T intron_variant MELA-AU 6 147640108 147640108 single base substitution G A intron_variant MELA-AU 6 147640368 147640369 multiple base substitution (>=2bp and <=200bp) TT GG intron_variant MELA-AU 6 147640790 147640790 single base substitution C T intron_variant MELA-AU 6 147641335 147641335 single base substitution C T intron_variant MELA-AU 6 147641388 147641388 single base substitution T C intron_variant MELA-AU 6 147641723 147641723 single base substitution G T intron_variant MELA-AU 6 147642055 147642055 single base substitution T C intron_variant MELA-AU 6 147642234 147642234 single base substitution C A intron_variant MELA-AU 6 147642523 147642523 single base substitution G A intron_variant MELA-AU 6 147644086 147644086 single base substitution G A intron_variant MELA-AU 6 147644086 147644086 single base substitution G A upstream_gene_variant MELA-AU 6 147644160 147644160 single base substitution C T intron_variant MELA-AU 6 147644160 147644160 single base substitution C T upstream_gene_variant MELA-AU 6 147644982 147644982 single base substitution C T intron_variant MELA-AU 6 147644982 147644982 single base substitution C T upstream_gene_variant MELA-AU 6 147645064 147645064 single base substitution C T intron_variant MELA-AU 6 147645064 147645064 single base substitution C T upstream_gene_variant MELA-AU 6 147645438 147645438 single base substitution C T intron_variant MELA-AU 6 147645438 147645438 single base substitution C T upstream_gene_variant MELA-AU 6 147645868 147645868 single base substitution C T intron_variant MELA-AU 6 147645868 147645868 single base substitution C T upstream_gene_variant MELA-AU 6 147645964 147645964 single base substitution C A intron_variant MELA-AU 6 147645964 147645964 single base substitution C A upstream_gene_variant MELA-AU 6 147646175 147646175 single base substitution C G missense_variant P299R 896C>G MELA-AU 6 147646175 147646175 single base substitution C G missense_variant P628R 1883C>G MELA-AU 6 147646175 147646175 single base substitution C G upstream_gene_variant MELA-AU 6 147646211 147646211 single base substitution C T missense_variant S311F 932C>T MELA-AU 6 147646211 147646211 single base substitution C T missense_variant S640F 1919C>T MELA-AU 6 147646211 147646211 single base substitution C T upstream_gene_variant MELA-AU 6 147647005 147647005 single base substitution A T intron_variant MELA-AU 6 147647005 147647005 single base substitution A T upstream_gene_variant MELA-AU 6 147648729 147648729 single base substitution C T intron_variant MELA-AU 6 147648741 147648741 single base substitution C T intron_variant MELA-AU 6 147648897 147648897 single base substitution C T intron_variant MELA-AU 6 147649424 147649424 single base substitution C T intron_variant MELA-AU 6 147650955 147650955 single base substitution G A intron_variant MELA-AU 6 147651252 147651252 single base substitution C T intron_variant MELA-AU 6 147651393 147651393 single base substitution C T intron_variant MELA-AU 6 147651962 147651962 single base substitution C T intron_variant MELA-AU 6 147652289 147652289 single base substitution A G intron_variant MELA-AU 6 147653404 147653404 single base substitution C T intron_variant MELA-AU 6 147653481 147653481 single base substitution T G intron_variant MELA-AU 6 147653600 147653600 single base substitution C T intron_variant MELA-AU 6 147654085 147654085 single base substitution C T intron_variant MELA-AU 6 147654582 147654582 single base substitution C T intron_variant MELA-AU 6 147654659 147654659 single base substitution T C intron_variant MELA-AU 6 147654837 147654837 single base substitution C T intron_variant MELA-AU 6 147656125 147656125 single base substitution G T intron_variant MELA-AU 6 147656289 147656289 single base substitution C T intron_variant MELA-AU 6 147656831 147656831 single base substitution G A intron_variant MELA-AU 6 147656861 147656861 single base substitution C T intron_variant MELA-AU 6 147657740 147657740 single base substitution T G intron_variant MELA-AU 6 147658281 147658281 single base substitution A T intron_variant MELA-AU 6 147659014 147659014 single base substitution C T intron_variant MELA-AU 6 147659308 147659308 single base substitution G T intron_variant MELA-AU 6 147659996 147659996 single base substitution C T intron_variant MELA-AU 6 147660258 147660258 single base substitution G A intron_variant MELA-AU 6 147660984 147660984 single base substitution G A intron_variant MELA-AU 6 147661290 147661290 single base substitution C T intron_variant MELA-AU 6 147662420 147662420 single base substitution C T intron_variant MELA-AU 6 147662753 147662753 single base substitution C T intron_variant MELA-AU 6 147662929 147662929 single base substitution T G intron_variant MELA-AU 6 147663014 147663014 single base substitution T A intron_variant MELA-AU 6 147663070 147663070 single base substitution C T intron_variant MELA-AU 6 147663246 147663246 single base substitution C T intron_variant MELA-AU 6 147664217 147664217 single base substitution T C intron_variant MELA-AU 6 147664219 147664219 single base substitution A T intron_variant MELA-AU 6 147664865 147664865 single base substitution C T intron_variant MELA-AU 6 147666171 147666171 single base substitution C T intron_variant MELA-AU 6 147667502 147667502 single base substitution C T intron_variant MELA-AU 6 147667758 147667758 single base substitution C T intron_variant MELA-AU 6 147668008 147668008 single base substitution C T intron_variant MELA-AU 6 147668012 147668012 single base substitution C T intron_variant MELA-AU 6 147668088 147668088 single base substitution C T intron_variant MELA-AU 6 147668630 147668630 single base substitution T C intron_variant MELA-AU 6 147669711 147669711 single base substitution C T intron_variant MELA-AU 6 147670131 147670131 single base substitution T G intron_variant MELA-AU 6 147670684 147670684 single base substitution C T intron_variant MELA-AU 6 147670984 147670984 single base substitution C T intron_variant MELA-AU 6 147671386 147671386 single base substitution T G intron_variant MELA-AU 6 147671839 147671839 single base substitution T C intron_variant MELA-AU 6 147671933 147671933 single base substitution A C intron_variant MELA-AU 6 147673014 147673014 single base substitution C T intron_variant MELA-AU 6 147673245 147673245 single base substitution C T intron_variant MELA-AU 6 147673388 147673388 single base substitution C T intron_variant MELA-AU 6 147673421 147673421 single base substitution A T intron_variant MELA-AU 6 147673573 147673573 single base substitution C T intron_variant MELA-AU 6 147673657 147673657 single base substitution G A intron_variant MELA-AU 6 147674548 147674548 single base substitution T C intron_variant MELA-AU 6 147675361 147675361 single base substitution C T intron_variant MELA-AU 6 147676294 147676294 single base substitution C T intron_variant MELA-AU 6 147677352 147677352 single base substitution G A intron_variant MELA-AU 6 147677654 147677654 single base substitution C T intron_variant MELA-AU 6 147678345 147678345 single base substitution G A intron_variant MELA-AU 6 147678971 147678971 single base substitution A G intron_variant MELA-AU 6 147679613 147679613 single base substitution T C intron_variant MELA-AU 6 147679756 147679756 single base substitution T C intron_variant MELA-AU 6 147680133 147680133 single base substitution A C intron_variant MELA-AU 6 147680306 147680306 single base substitution C T missense_variant H122Y 364C>T MELA-AU 6 147680306 147680306 single base substitution C T missense_variant H123Y 367C>T MELA-AU 6 147680306 147680306 single base substitution C T missense_variant H453Y 1357C>T MELA-AU 6 147680306 147680306 single base substitution C T missense_variant H745Y 2233C>T MELA-AU 6 147680306 147680306 single base substitution C T missense_variant H762Y 2284C>T MELA-AU 6 147680306 147680306 single base substitution C T missense_variant H798Y 2392C>T MELA-AU 6 147681724 147681724 single base substitution A T downstream_gene_variant MELA-AU 6 147681724 147681724 single base substitution A T intron_variant MELA-AU 6 147681994 147681994 single base substitution C T downstream_gene_variant MELA-AU 6 147681994 147681994 single base substitution C T intron_variant MELA-AU 6 147682288 147682288 single base substitution T G downstream_gene_variant MELA-AU 6 147682288 147682288 single base substitution T G intron_variant MELA-AU 6 147683482 147683482 single base substitution C T downstream_gene_variant MELA-AU 6 147683482 147683482 single base substitution C T intron_variant MELA-AU 6 147684371 147684371 single base substitution A G downstream_gene_variant MELA-AU 6 147684371 147684371 single base substitution A G intron_variant MELA-AU 6 147686478 147686478 single base substitution C T downstream_gene_variant MELA-AU 6 147686478 147686478 single base substitution C T intron_variant MELA-AU 6 147687093 147687093 single base substitution T A downstream_gene_variant MELA-AU 6 147687093 147687093 single base substitution T A intron_variant MELA-AU 6 147687891 147687891 single base substitution C T downstream_gene_variant MELA-AU 6 147687891 147687891 single base substitution C T intron_variant MELA-AU 6 147688120 147688120 single base substitution C T downstream_gene_variant MELA-AU 6 147688120 147688120 single base substitution C T intron_variant MELA-AU 6 147688216 147688216 single base substitution T C downstream_gene_variant MELA-AU 6 147688216 147688216 single base substitution T C intron_variant MELA-AU 6 147688218 147688218 single base substitution C T downstream_gene_variant MELA-AU 6 147688218 147688218 single base substitution C T intron_variant MELA-AU 6 147688700 147688700 single base substitution G A downstream_gene_variant MELA-AU 6 147688700 147688700 single base substitution G A intron_variant MELA-AU 6 147689756 147689756 single base substitution C T intron_variant MELA-AU 6 147690486 147690486 single base substitution C T intron_variant MELA-AU 6 147691558 147691558 single base substitution G A intron_variant MELA-AU 6 147691770 147691770 single base substitution C T intron_variant MELA-AU 6 147692683 147692683 single base substitution C T intron_variant MELA-AU 6 147692696 147692696 single base substitution G T intron_variant MELA-AU 6 147692773 147692773 single base substitution C T intron_variant MELA-AU 6 147692923 147692923 single base substitution G A intron_variant MELA-AU 6 147693232 147693232 single base substitution C T intron_variant MELA-AU 6 147693295 147693295 single base substitution C T intron_variant MELA-AU 6 147693663 147693663 single base substitution C A intron_variant MELA-AU 6 147696541 147696542 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 147698799 147698799 single base substitution C T intron_variant MELA-AU 6 147699572 147699572 single base substitution C T intron_variant MELA-AU 6 147699577 147699577 single base substitution C T intron_variant MELA-AU 6 147699770 147699770 single base substitution C T intron_variant MELA-AU 6 147702593 147702593 single base substitution C G intron_variant MELA-AU 6 147703109 147703109 single base substitution C T intron_variant MELA-AU 6 147703554 147703554 single base substitution C T intron_variant MELA-AU 6 147703624 147703624 single base substitution C T intron_variant MELA-AU 6 147703788 147703788 single base substitution C A intron_variant MELA-AU 6 147704028 147704028 single base substitution G A missense_variant R1050Q 3149G>A MELA-AU 6 147704028 147704028 single base substitution G A missense_variant R1067Q 3200G>A MELA-AU 6 147704028 147704028 single base substitution G A missense_variant R1103Q 3308G>A MELA-AU 6 147704028 147704028 single base substitution G A missense_variant R758Q 2273G>A MELA-AU 6 147704278 147704278 single base substitution C T intron_variant MELA-AU 6 147704491 147704491 single base substitution C T intron_variant MELA-AU 6 147704750 147704750 single base substitution C T intron_variant MELA-AU 6 147705262 147705262 single base substitution C T intron_variant MELA-AU 6 147705940 147705940 single base substitution C T 3_prime_UTR_variant MELA-AU 6 147705940 147705940 single base substitution C T downstream_gene_variant MELA-AU 6 147705956 147705956 single base substitution C T 3_prime_UTR_variant MELA-AU 6 147705956 147705956 single base substitution C T downstream_gene_variant MELA-AU 6 147706366 147706366 single base substitution C T 3_prime_UTR_variant MELA-AU 6 147706366 147706366 single base substitution C T downstream_gene_variant MELA-AU 6 147707628 147707628 single base substitution C T downstream_gene_variant MELA-AU 6 147707756 147707756 single base substitution C T downstream_gene_variant MELA-AU 6 147707838 147707838 single base substitution C T downstream_gene_variant MELA-AU 6 147708081 147708081 single base substitution C T downstream_gene_variant MELA-AU 6 147709302 147709302 single base substitution T G downstream_gene_variant MELA-AU 6 147709425 147709425 single base substitution T G downstream_gene_variant MELA-AU 6 147710013 147710013 single base substitution C T downstream_gene_variant MELA-AU 6 147710190 147710190 single base substitution C T downstream_gene_variant MELA-AU 6 147710593 147710593 single base substitution T C downstream_gene_variant MELA-AU 6 147710654 147710654 single base substitution C T downstream_gene_variant MELA-AU 6 147711793 147711793 single base substitution A G downstream_gene_variant ORCA-IN 6 147591263 147591263 single base substitution G T intron_variant ORCA-IN 6 147601309 147601309 single base substitution G C intron_variant ORCA-IN 6 147623182 147623182 single base substitution G A intron_variant ORCA-IN 6 147637705 147637705 single base substitution G A intron_variant ORCA-IN 6 147639806 147639806 single base substitution G C intron_variant ORCA-IN 6 147663075 147663075 single base substitution T G intron_variant ORCA-IN 6 147687285 147687285 single base substitution G A downstream_gene_variant ORCA-IN 6 147687285 147687285 single base substitution G A intron_variant ORCA-IN 6 147702095 147702095 single base substitution G A intron_variant ORCA-IN 6 147705418 147705418 single base substitution G A intron_variant OV-AU 6 147524449 147524449 single base substitution C T upstream_gene_variant OV-AU 6 147527976 147527976 single base substitution C T intron_variant OV-AU 6 147532562 147532562 single base substitution A G intron_variant OV-AU 6 147546175 147546175 single base substitution G T intron_variant OV-AU 6 147553522 147553522 single base substitution A T intron_variant OV-AU 6 147557044 147557044 single base substitution A T intron_variant OV-AU 6 147558826 147558826 single base substitution C T intron_variant OV-AU 6 147565883 147565883 single base substitution A T intron_variant OV-AU 6 147566156 147566156 single base substitution T A intron_variant OV-AU 6 147571095 147571095 single base substitution A G intron_variant OV-AU 6 147574473 147574473 single base substitution A C intron_variant OV-AU 6 147592384 147592384 single base substitution A T intron_variant OV-AU 6 147601066 147601066 single base substitution A G intron_variant OV-AU 6 147603638 147603638 single base substitution G C intron_variant OV-AU 6 147606090 147606090 single base substitution C T intron_variant OV-AU 6 147625781 147625781 single base substitution C G intron_variant OV-AU 6 147625782 147625782 single base substitution T G intron_variant OV-AU 6 147629250 147629250 single base substitution G A intron_variant OV-AU 6 147631552 147631552 single base substitution G C intron_variant OV-AU 6 147633310 147633310 single base substitution A C intron_variant OV-AU 6 147638071 147638071 single base substitution A G intron_variant OV-AU 6 147640921 147640921 single base substitution C T intron_variant OV-AU 6 147644805 147644805 single base substitution G T intron_variant OV-AU 6 147644805 147644805 single base substitution G T upstream_gene_variant OV-AU 6 147646601 147646601 single base substitution A T intron_variant OV-AU 6 147646601 147646601 single base substitution A T upstream_gene_variant OV-AU 6 147646891 147646891 single base substitution C G intron_variant OV-AU 6 147646891 147646891 single base substitution C G upstream_gene_variant OV-AU 6 147647050 147647050 single base substitution A T intron_variant OV-AU 6 147647050 147647050 single base substitution A T upstream_gene_variant OV-AU 6 147647592 147647592 single base substitution C A intron_variant OV-AU 6 147647592 147647592 single base substitution C A upstream_gene_variant OV-AU 6 147649696 147649696 single base substitution C G intron_variant OV-AU 6 147663329 147663329 single base substitution T C intron_variant OV-AU 6 147677039 147677039 single base substitution A T intron_variant OV-AU 6 147687328 147687328 single base substitution G C downstream_gene_variant OV-AU 6 147687328 147687328 single base substitution G C intron_variant OV-AU 6 147688503 147688503 single base substitution G A downstream_gene_variant OV-AU 6 147688503 147688503 single base substitution G A intron_variant OV-AU 6 147691149 147691149 single base substitution A T intron_variant PACA-AU 6 147521976 147521976 deletion of <=200bp T - upstream_gene_variant PACA-AU 6 147523756 147523756 single base substitution G C upstream_gene_variant PACA-AU 6 147524888 147524888 single base substitution G C upstream_gene_variant PACA-AU 6 147528938 147528938 single base substitution G A intron_variant PACA-AU 6 147533955 147533955 single base substitution G T intron_variant PACA-AU 6 147536291 147536291 single base substitution C G intron_variant PACA-AU 6 147537031 147537031 single base substitution T C intron_variant PACA-AU 6 147542283 147542283 single base substitution C G intron_variant PACA-AU 6 147554149 147554149 single base substitution G A intron_variant PACA-AU 6 147557702 147557702 single base substitution G A intron_variant PACA-AU 6 147560348 147560348 single base substitution T C 5_prime_UTR_variant PACA-AU 6 147560348 147560348 single base substitution T C missense_variant W125R 373T>C PACA-AU 6 147561034 147561034 single base substitution A C intron_variant PACA-AU 6 147561266 147561266 single base substitution C T intron_variant PACA-AU 6 147562041 147562041 single base substitution T C intron_variant PACA-AU 6 147563769 147563769 single base substitution A G intron_variant PACA-AU 6 147572580 147572580 single base substitution G A intron_variant PACA-AU 6 147574349 147574349 deletion of <=200bp G - intron_variant PACA-AU 6 147576769 147576769 single base substitution T G intron_variant PACA-AU 6 147577241 147577241 single base substitution A G intron_variant PACA-AU 6 147588125 147588125 single base substitution G A intron_variant PACA-AU 6 147591711 147591711 single base substitution A C intron_variant PACA-AU 6 147591864 147591864 single base substitution A C intron_variant PACA-AU 6 147597117 147597117 single base substitution C T intron_variant PACA-AU 6 147608581 147608581 single base substitution G A intron_variant PACA-AU 6 147610627 147610627 single base substitution G A intron_variant PACA-AU 6 147611906 147611906 single base substitution C A intron_variant PACA-AU 6 147617471 147617471 single base substitution G A downstream_gene_variant PACA-AU 6 147617471 147617471 single base substitution G A intron_variant PACA-AU 6 147617753 147617753 single base substitution A T downstream_gene_variant PACA-AU 6 147617753 147617753 single base substitution A T intron_variant PACA-AU 6 147620644 147620644 single base substitution A G intron_variant PACA-AU 6 147621255 147621255 single base substitution C G intron_variant PACA-AU 6 147621759 147621759 deletion of <=200bp A - intron_variant PACA-AU 6 147625231 147625231 single base substitution G C intron_variant PACA-AU 6 147626101 147626101 single base substitution G A intron_variant PACA-AU 6 147626965 147626965 single base substitution G A intron_variant PACA-AU 6 147631817 147631817 single base substitution A G intron_variant PACA-AU 6 147633631 147633631 single base substitution G C intron_variant PACA-AU 6 147633709 147633709 single base substitution G C intron_variant PACA-AU 6 147638469 147638469 single base substitution T A intron_variant PACA-AU 6 147639013 147639013 deletion of <=200bp T - intron_variant PACA-AU 6 147647059 147647059 single base substitution T A intron_variant PACA-AU 6 147647059 147647059 single base substitution T A upstream_gene_variant PACA-AU 6 147648416 147648420 deletion of <=200bp AAAAG - intron_variant PACA-AU 6 147648416 147648420 deletion of <=200bp AAAAG - splice_region_variant PACA-AU 6 147648855 147648855 single base substitution G A intron_variant PACA-AU 6 147663984 147663984 single base substitution T C intron_variant PACA-AU 6 147666181 147666181 single base substitution A C intron_variant PACA-AU 6 147667091 147667091 single base substitution G C intron_variant PACA-AU 6 147674515 147674515 single base substitution T C intron_variant PACA-AU 6 147674515 147674515 single base substitution T C splice_region_variant PACA-AU 6 147675918 147675918 single base substitution G C intron_variant PACA-AU 6 147679836 147679836 single base substitution A C intron_variant PACA-AU 6 147680067 147680067 single base substitution G C intron_variant PACA-AU 6 147682847 147682847 single base substitution A T downstream_gene_variant PACA-AU 6 147682847 147682847 single base substitution A T intron_variant PACA-AU 6 147685720 147685720 deletion of <=200bp A - downstream_gene_variant PACA-AU 6 147685720 147685720 deletion of <=200bp A - intron_variant PACA-AU 6 147693188 147693188 single base substitution G T intron_variant PACA-AU 6 147693548 147693548 single base substitution T A intron_variant PACA-AU 6 147704605 147704605 single base substitution C T intron_variant PACA-AU 6 147705291 147705291 single base substitution C T intron_variant PACA-AU 6 147709821 147709821 single base substitution A G downstream_gene_variant PACA-CA 6 147521058 147521058 single base substitution C T upstream_gene_variant PACA-CA 6 147521223 147521223 single base substitution C T upstream_gene_variant PACA-CA 6 147522418 147522418 single base substitution G A upstream_gene_variant PACA-CA 6 147524005 147524005 single base substitution G C upstream_gene_variant PACA-CA 6 147530259 147530259 deletion of <=200bp T - intron_variant PACA-CA 6 147533178 147533178 single base substitution G C intron_variant PACA-CA 6 147533373 147533373 single base substitution A C intron_variant PACA-CA 6 147534832 147534832 single base substitution T G intron_variant PACA-CA 6 147536515 147536515 single base substitution T G intron_variant PACA-CA 6 147537948 147537948 insertion of <=200bp - T intron_variant PACA-CA 6 147541397 147541397 single base substitution C T intron_variant PACA-CA 6 147542841 147542841 single base substitution T C intron_variant PACA-CA 6 147543075 147543075 insertion of <=200bp - T intron_variant PACA-CA 6 147543898 147543898 single base substitution A G intron_variant PACA-CA 6 147550424 147550424 deletion of <=200bp T - intron_variant PACA-CA 6 147551789 147551789 single base substitution A G intron_variant PACA-CA 6 147554617 147554617 single base substitution T C intron_variant PACA-CA 6 147555019 147555019 single base substitution T C intron_variant PACA-CA 6 147556698 147556698 insertion of <=200bp - T intron_variant PACA-CA 6 147561947 147561947 single base substitution C T intron_variant PACA-CA 6 147562251 147562251 single base substitution A T intron_variant PACA-CA 6 147565308 147565308 single base substitution G A intron_variant PACA-CA 6 147565698 147565698 single base substitution T C intron_variant PACA-CA 6 147566045 147566045 single base substitution T A intron_variant PACA-CA 6 147568066 147568066 single base substitution C G intron_variant PACA-CA 6 147569595 147569595 single base substitution T A intron_variant PACA-CA 6 147575580 147575580 single base substitution G A intron_variant PACA-CA 6 147580164 147580164 single base substitution A G intron_variant PACA-CA 6 147580927 147580927 single base substitution T A intron_variant PACA-CA 6 147581155 147581155 single base substitution A G intron_variant PACA-CA 6 147587706 147587706 single base substitution C T intron_variant PACA-CA 6 147590218 147590218 single base substitution C T intron_variant PACA-CA 6 147598099 147598099 single base substitution C T intron_variant PACA-CA 6 147598553 147598553 deletion of <=200bp T - intron_variant PACA-CA 6 147598649 147598649 single base substitution G A intron_variant PACA-CA 6 147600626 147600626 single base substitution A G intron_variant PACA-CA 6 147601776 147601776 single base substitution A G intron_variant PACA-CA 6 147604334 147604334 single base substitution C T intron_variant PACA-CA 6 147605097 147605097 single base substitution C T intron_variant PACA-CA 6 147605246 147605246 deletion of <=200bp T - intron_variant PACA-CA 6 147607022 147607022 single base substitution C A intron_variant PACA-CA 6 147617877 147617877 insertion of <=200bp - A downstream_gene_variant PACA-CA 6 147617877 147617877 insertion of <=200bp - A intron_variant PACA-CA 6 147619242 147619242 single base substitution C G downstream_gene_variant PACA-CA 6 147619242 147619242 single base substitution C G intron_variant PACA-CA 6 147619812 147619812 single base substitution G A intron_variant PACA-CA 6 147622958 147622958 single base substitution G A intron_variant PACA-CA 6 147629355 147629355 single base substitution C T intron_variant PACA-CA 6 147629586 147629586 single base substitution T C intron_variant PACA-CA 6 147643086 147643086 single base substitution C T intron_variant PACA-CA 6 147649095 147649095 deletion of <=200bp A - intron_variant PACA-CA 6 147651006 147651006 single base substitution G A intron_variant PACA-CA 6 147662477 147662477 single base substitution G T intron_variant PACA-CA 6 147663391 147663391 single base substitution G C intron_variant PACA-CA 6 147667350 147667350 single base substitution G A intron_variant PACA-CA 6 147672960 147672960 deletion of <=200bp T - intron_variant PACA-CA 6 147673086 147673086 single base substitution C T intron_variant PACA-CA 6 147677752 147677752 deletion of <=200bp A - intron_variant PACA-CA 6 147680219 147680219 single base substitution G A splice_acceptor_variant PACA-CA 6 147681683 147681683 single base substitution A G downstream_gene_variant PACA-CA 6 147681683 147681683 single base substitution A G intron_variant PACA-CA 6 147685582 147685582 single base substitution T A downstream_gene_variant PACA-CA 6 147685582 147685582 single base substitution T A intron_variant PACA-CA 6 147687289 147687289 single base substitution G C downstream_gene_variant PACA-CA 6 147687289 147687289 single base substitution G C intron_variant PACA-CA 6 147689407 147689407 single base substitution T A downstream_gene_variant PACA-CA 6 147689407 147689407 single base substitution T A intron_variant PACA-CA 6 147690745 147690745 single base substitution C A intron_variant PACA-CA 6 147692393 147692393 single base substitution A G intron_variant PACA-CA 6 147692995 147692995 single base substitution C A intron_variant PACA-CA 6 147693038 147693038 single base substitution T G intron_variant PACA-CA 6 147694258 147694258 single base substitution T G intron_variant PACA-CA 6 147697931 147697931 single base substitution G A intron_variant PACA-CA 6 147705565 147705565 single base substitution T C intron_variant PACA-CA 6 147707863 147707863 single base substitution G A downstream_gene_variant PAEN-AU 6 147532442 147532442 single base substitution C G intron_variant PAEN-AU 6 147555439 147555439 single base substitution T C intron_variant PAEN-AU 6 147570472 147570472 single base substitution A G intron_variant PAEN-AU 6 147579648 147579648 single base substitution C G intron_variant PAEN-AU 6 147628034 147628034 single base substitution C A intron_variant PAEN-AU 6 147642735 147642735 single base substitution C T intron_variant PAEN-AU 6 147642764 147642764 single base substitution G A intron_variant PAEN-AU 6 147659975 147659975 single base substitution A G intron_variant PAEN-AU 6 147675284 147675284 single base substitution C T intron_variant PAEN-AU 6 147696966 147696966 single base substitution G T intron_variant PAEN-AU 6 147697941 147697941 single base substitution C A intron_variant PAEN-IT 6 147626263 147626263 single base substitution C G intron_variant PAEN-IT 6 147688620 147688620 single base substitution A G downstream_gene_variant PAEN-IT 6 147688620 147688620 single base substitution A G intron_variant PAEN-IT 6 147711212 147711212 single base substitution G A downstream_gene_variant PBCA-DE 6 147528547 147528547 single base substitution G T intron_variant PBCA-DE 6 147529163 147529163 single base substitution G C intron_variant PBCA-DE 6 147538037 147538037 single base substitution C A intron_variant PBCA-DE 6 147545303 147545303 single base substitution T A intron_variant PBCA-DE 6 147555590 147555590 single base substitution C A intron_variant PBCA-DE 6 147561561 147561561 insertion of <=200bp - A intron_variant PBCA-DE 6 147563092 147563092 deletion of <=200bp T - intron_variant PBCA-DE 6 147568977 147568977 single base substitution T A intron_variant PBCA-DE 6 147578153 147578153 single base substitution T C intron_variant PBCA-DE 6 147594792 147594792 insertion of <=200bp - A intron_variant PBCA-DE 6 147600958 147600958 single base substitution G A intron_variant PBCA-DE 6 147617200 147617200 single base substitution A C downstream_gene_variant PBCA-DE 6 147617200 147617200 single base substitution A C intron_variant PBCA-DE 6 147618057 147618057 insertion of <=200bp - A downstream_gene_variant PBCA-DE 6 147618057 147618057 insertion of <=200bp - A intron_variant PBCA-DE 6 147624359 147624359 single base substitution A G intron_variant PBCA-DE 6 147630647 147630647 single base substitution A T intron_variant PBCA-DE 6 147632808 147632808 single base substitution A G intron_variant PBCA-DE 6 147639607 147639607 single base substitution C A intron_variant PBCA-DE 6 147640305 147640305 deletion of <=200bp A - intron_variant PBCA-DE 6 147642566 147642566 single base substitution G C intron_variant PBCA-DE 6 147643929 147643929 insertion of <=200bp - A intron_variant PBCA-DE 6 147643929 147643929 insertion of <=200bp - A upstream_gene_variant PBCA-DE 6 147648470 147648470 single base substitution C T intron_variant PBCA-DE 6 147649045 147649045 single base substitution G A intron_variant PBCA-DE 6 147658305 147658306 deletion of <=200bp AT - intron_variant PBCA-DE 6 147658448 147658448 single base substitution G A intron_variant PBCA-DE 6 147665148 147665148 single base substitution T G intron_variant PBCA-DE 6 147668596 147668596 single base substitution G A intron_variant PBCA-DE 6 147668896 147668896 insertion of <=200bp - A intron_variant PBCA-DE 6 147671418 147671418 single base substitution A G intron_variant PBCA-DE 6 147679348 147679348 deletion of <=200bp A - intron_variant PBCA-DE 6 147681996 147681996 single base substitution A G downstream_gene_variant PBCA-DE 6 147681996 147681996 single base substitution A G intron_variant PBCA-DE 6 147687783 147687783 single base substitution T A downstream_gene_variant PBCA-DE 6 147687783 147687783 single base substitution T A intron_variant PBCA-DE 6 147695509 147695509 insertion of <=200bp - T intron_variant PBCA-DE 6 147701310 147701311 deletion of <=200bp AC - intron_variant PBCA-DE 6 147706046 147706046 single base substitution C A 3_prime_UTR_variant PBCA-DE 6 147706046 147706046 single base substitution C A downstream_gene_variant PRAD-CA 6 147574664 147574664 single base substitution G A intron_variant PRAD-CA 6 147576647 147576647 single base substitution T C intron_variant PRAD-CA 6 147596878 147596878 single base substitution A G intron_variant PRAD-CA 6 147619265 147619265 single base substitution T C downstream_gene_variant PRAD-CA 6 147619265 147619265 single base substitution T C intron_variant PRAD-CA 6 147658050 147658050 single base substitution T C intron_variant PRAD-CA 6 147665052 147665052 single base substitution G A intron_variant PRAD-CA 6 147677225 147677225 single base substitution A C intron_variant PRAD-CA 6 147687754 147687754 single base substitution A G downstream_gene_variant PRAD-CA 6 147687754 147687754 single base substitution A G intron_variant PRAD-CA 6 147704871 147704871 single base substitution T C intron_variant PRAD-UK 6 147557551 147557551 single base substitution T C intron_variant PRAD-UK 6 147567427 147567427 single base substitution G A intron_variant PRAD-UK 6 147573883 147573883 single base substitution G A intron_variant PRAD-UK 6 147577379 147577379 single base substitution A G intron_variant PRAD-UK 6 147583993 147583993 single base substitution C A intron_variant PRAD-UK 6 147587119 147587119 single base substitution G A intron_variant PRAD-UK 6 147614299 147614299 single base substitution T G 3_prime_UTR_variant PRAD-UK 6 147614299 147614299 single base substitution T G intron_variant PRAD-UK 6 147632332 147632332 single base substitution G A intron_variant PRAD-UK 6 147634633 147634633 single base substitution C A intron_variant PRAD-UK 6 147640314 147640314 insertion of <=200bp - G intron_variant PRAD-UK 6 147643578 147643578 single base substitution T G intron_variant PRAD-UK 6 147643578 147643578 single base substitution T G upstream_gene_variant PRAD-UK 6 147655053 147655053 single base substitution T A intron_variant PRAD-UK 6 147674696 147674696 single base substitution A G intron_variant PRAD-UK 6 147682846 147682846 single base substitution T A downstream_gene_variant PRAD-UK 6 147682846 147682846 single base substitution T A intron_variant PRAD-UK 6 147690560 147690560 single base substitution C T intron_variant PRAD-UK 6 147701671 147701671 single base substitution A G intron_variant PRAD-UK 6 147709932 147709932 single base substitution G T downstream_gene_variant READ-US 6 147560385 147560385 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant READ-US 6 147560385 147560385 single base substitution C T missense_variant S137L 410C>T READ-US 6 147631344 147631344 single base substitution C G missense_variant L19V 55C>G READ-US 6 147631344 147631344 single base substitution C G missense_variant L348V 1042C>G RECA-EU 6 147541065 147541065 single base substitution G T intron_variant RECA-EU 6 147565279 147565279 single base substitution C T intron_variant RECA-EU 6 147565316 147565316 single base substitution T C intron_variant RECA-EU 6 147566909 147566909 single base substitution C T intron_variant RECA-EU 6 147567735 147567735 single base substitution G A intron_variant RECA-EU 6 147576647 147576647 single base substitution T C intron_variant RECA-EU 6 147590876 147590876 single base substitution A T intron_variant RECA-EU 6 147601078 147601078 single base substitution C A intron_variant RECA-EU 6 147603140 147603140 single base substitution A T intron_variant RECA-EU 6 147615514 147615514 single base substitution T C downstream_gene_variant RECA-EU 6 147615514 147615514 single base substitution T C intron_variant RECA-EU 6 147620523 147620523 single base substitution G C intron_variant RECA-EU 6 147627041 147627041 single base substitution A G intron_variant RECA-EU 6 147628226 147628226 single base substitution A T intron_variant RECA-EU 6 147632086 147632086 single base substitution G A intron_variant RECA-EU 6 147655952 147655952 single base substitution G C intron_variant RECA-EU 6 147661851 147661851 single base substitution T C intron_variant RECA-EU 6 147661868 147661868 single base substitution A G intron_variant RECA-EU 6 147669374 147669374 single base substitution A T intron_variant RECA-EU 6 147678688 147678688 single base substitution A T intron_variant RECA-EU 6 147699302 147699302 single base substitution A G intron_variant RECA-EU 6 147705777 147705777 single base substitution A T intron_variant RECA-EU 6 147706474 147706474 single base substitution A T 3_prime_UTR_variant RECA-EU 6 147706474 147706474 single base substitution A T downstream_gene_variant RECA-EU 6 147707724 147707724 single base substitution A C downstream_gene_variant SKCA-BR 6 147523167 147523167 single base substitution C T upstream_gene_variant SKCA-BR 6 147523168 147523168 single base substitution C T upstream_gene_variant SKCA-BR 6 147534568 147534572 deletion of <=200bp ATATG - intron_variant SKCA-BR 6 147534568 147534580 deletion of <=200bp ATATGTGTGTGTG - intron_variant SKCA-BR 6 147537465 147537465 single base substitution T G intron_variant SKCA-BR 6 147543264 147543264 single base substitution C T intron_variant SKCA-BR 6 147565235 147565235 single base substitution A G intron_variant SKCA-BR 6 147565924 147565924 single base substitution C T intron_variant SKCA-BR 6 147569085 147569085 single base substitution G C intron_variant SKCA-BR 6 147573934 147573934 single base substitution G T intron_variant SKCA-BR 6 147573999 147573999 single base substitution C T intron_variant SKCA-BR 6 147576637 147576637 insertion of <=200bp - TTTG intron_variant SKCA-BR 6 147584464 147584464 single base substitution C T intron_variant SKCA-BR 6 147584610 147584610 single base substitution A G intron_variant SKCA-BR 6 147589351 147589351 single base substitution C T intron_variant SKCA-BR 6 147596734 147596734 single base substitution C T intron_variant SKCA-BR 6 147596735 147596735 single base substitution C T intron_variant SKCA-BR 6 147602383 147602383 single base substitution A G intron_variant SKCA-BR 6 147609706 147609706 single base substitution A T intron_variant SKCA-BR 6 147619945 147619945 single base substitution C T intron_variant SKCA-BR 6 147627540 147627540 single base substitution C T intron_variant SKCA-BR 6 147628481 147628481 single base substitution C T intron_variant SKCA-BR 6 147628700 147628700 single base substitution T G intron_variant SKCA-BR 6 147630454 147630454 single base substitution A T intron_variant SKCA-BR 6 147631665 147631669 deletion of <=200bp GTGAT - intron_variant SKCA-BR 6 147632743 147632743 single base substitution C T intron_variant SKCA-BR 6 147635385 147635385 single base substitution C G intron_variant SKCA-BR 6 147635413 147635413 single base substitution A G missense_variant N107S 320A>G SKCA-BR 6 147635413 147635413 single base substitution A G missense_variant N436S 1307A>G SKCA-BR 6 147639016 147639016 single base substitution T A intron_variant SKCA-BR 6 147643454 147643454 single base substitution A T intron_variant SKCA-BR 6 147643454 147643454 single base substitution A T upstream_gene_variant SKCA-BR 6 147644490 147644490 single base substitution C T intron_variant SKCA-BR 6 147644490 147644490 single base substitution C T upstream_gene_variant SKCA-BR 6 147652941 147652941 insertion of <=200bp - TA intron_variant SKCA-BR 6 147657917 147657917 single base substitution C T intron_variant SKCA-BR 6 147659088 147659088 single base substitution G A intron_variant SKCA-BR 6 147659822 147659822 single base substitution C T intron_variant SKCA-BR 6 147662541 147662541 single base substitution G T intron_variant SKCA-BR 6 147667095 147667095 single base substitution G A intron_variant SKCA-BR 6 147668893 147668893 single base substitution A T intron_variant SKCA-BR 6 147673034 147673034 single base substitution C T intron_variant SKCA-BR 6 147675663 147675663 single base substitution C T intron_variant SKCA-BR 6 147681012 147681012 single base substitution T C downstream_gene_variant SKCA-BR 6 147681012 147681012 single base substitution T C intron_variant SKCA-BR 6 147685255 147685255 single base substitution G A downstream_gene_variant SKCA-BR 6 147685255 147685255 single base substitution G A missense_variant E1012K 3034G>A SKCA-BR 6 147685255 147685255 single base substitution G A missense_variant E667K 1999G>A SKCA-BR 6 147685255 147685255 single base substitution G A missense_variant E959K 2875G>A SKCA-BR 6 147685255 147685255 single base substitution G A missense_variant E976K 2926G>A SKCA-BR 6 147689629 147689629 single base substitution A G downstream_gene_variant SKCA-BR 6 147689629 147689629 single base substitution A G intron_variant SKCA-BR 6 147693542 147693545 deletion of <=200bp CCTT - intron_variant SKCA-BR 6 147693542 147693554 deletion of <=200bp CCTTTTTTTTTTT - intron_variant SKCA-BR 6 147693542 147693563 deletion of <=200bp CCTTTTTTTTTTTTTTTTTTTT - intron_variant SKCA-BR 6 147693542 147693565 deletion of <=200bp CCTTTTTTTTTTTTTTTTTTTTTT - intron_variant SKCA-BR 6 147693542 147693572 deletion of <=200bp CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT - intron_variant SKCA-BR 6 147693543 147693543 single base substitution C T intron_variant SKCA-BR 6 147694499 147694499 insertion of <=200bp - CA intron_variant SKCA-BR 6 147694499 147694500 deletion of <=200bp CA - intron_variant SKCA-BR 6 147699478 147699478 single base substitution A T intron_variant SKCA-BR 6 147700331 147700331 single base substitution C T intron_variant SKCA-BR 6 147701309 147701317 deletion of <=200bp TACACACAC - intron_variant SKCA-BR 6 147702098 147702098 single base substitution A G intron_variant SKCA-BR 6 147702357 147702357 single base substitution C T intron_variant SKCA-BR 6 147703571 147703571 single base substitution C T intron_variant SKCA-BR 6 147705031 147705031 single base substitution C T intron_variant SKCA-BR 6 147705912 147705912 single base substitution C T 3_prime_UTR_variant SKCA-BR 6 147705912 147705912 single base substitution C T downstream_gene_variant SKCM-US 6 147525714 147525714 single base substitution G A missense_variant G16S 46G>A SKCM-US 6 147525714 147525714 single base substitution G A upstream_gene_variant SKCM-US 6 147525724 147525724 single base substitution C T missense_variant S19L 56C>T SKCM-US 6 147525724 147525724 single base substitution C T upstream_gene_variant SKCM-US 6 147560390 147560390 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 6 147560390 147560390 single base substitution A G missense_variant K139E 415A>G SKCM-US 6 147631261 147631261 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 6 147631261 147631261 single base substitution C T missense_variant T320I 959C>T SKCM-US 6 147685156 147685156 single base substitution C T downstream_gene_variant SKCM-US 6 147685156 147685156 single base substitution C T synonymous_variant L634L 1900C>T SKCM-US 6 147685156 147685156 single base substitution C T synonymous_variant L926L 2776C>T SKCM-US 6 147685156 147685156 single base substitution C T synonymous_variant L943L 2827C>T SKCM-US 6 147685156 147685156 single base substitution C T synonymous_variant L979L 2935C>T SKCM-US 6 147694887 147694887 single base substitution C A missense_variant F1034L 3102C>A SKCM-US 6 147694887 147694887 single base substitution C A missense_variant F689L 2067C>A SKCM-US 6 147694887 147694887 single base substitution C A missense_variant F981L 2943C>A SKCM-US 6 147694887 147694887 single base substitution C A missense_variant F998L 2994C>A SKCM-US 6 147703923 147703923 single base substitution C T missense_variant S1015L 3044C>T SKCM-US 6 147703923 147703923 single base substitution C T missense_variant S1032L 3095C>T SKCM-US 6 147703923 147703923 single base substitution C T missense_variant S1068L 3203C>T SKCM-US 6 147703923 147703923 single base substitution C T missense_variant S723L 2168C>T STAD-US 6 147588297 147588297 single base substitution T C 5_prime_UTR_variant STAD-US 6 147588297 147588297 single base substitution T C synonymous_variant Y236Y 708T>C STAD-US 6 147612300 147612300 single base substitution T C 5_prime_UTR_variant STAD-US 6 147612300 147612300 single base substitution T C synonymous_variant T303T 909T>C STAD-US 6 147635091 147635091 single base substitution C T missense_variant A406V 1217C>T STAD-US 6 147635091 147635091 single base substitution C T missense_variant A77V 230C>T STAD-US 6 147635458 147635458 single base substitution T G missense_variant I122S 365T>G STAD-US 6 147635458 147635458 single base substitution T G missense_variant I451S 1352T>G STAD-US 6 147635760 147635760 single base substitution G A missense_variant D135N 403G>A STAD-US 6 147635760 147635760 single base substitution G A missense_variant D464N 1390G>A STAD-US 6 147637446 147637446 single base substitution G A missense_variant V240M 718G>A STAD-US 6 147637446 147637446 single base substitution G A missense_variant V569M 1705G>A STAD-US 6 147648266 147648266 deletion of <=200bp T - frameshift_variant V316 STAD-US 6 147648266 147648266 deletion of <=200bp T - frameshift_variant V645 STAD-US 6 147648266 147648266 deletion of <=200bp T - upstream_gene_variant STAD-US 6 147655326 147655326 single base substitution T A missense_variant V376D 1127T>A STAD-US 6 147655326 147655326 single base substitution T A missense_variant V46D 137T>A STAD-US 6 147655326 147655326 single base substitution T A missense_variant V65D 194T>A STAD-US 6 147655326 147655326 single base substitution T A missense_variant V705D 2114T>A STAD-US 6 147680279 147680279 single base substitution G T stop_gained E113* 337G>T STAD-US 6 147680279 147680279 single base substitution G T stop_gained E114* 340G>T STAD-US 6 147680279 147680279 single base substitution G T stop_gained E444* 1330G>T STAD-US 6 147680279 147680279 single base substitution G T stop_gained E736* 2206G>T STAD-US 6 147680279 147680279 single base substitution G T stop_gained E753* 2257G>T STAD-US 6 147680279 147680279 single base substitution G T stop_gained E789* 2365G>T STAD-US 6 147680408 147680408 deletion of <=200bp C - frameshift_variant P156 STAD-US 6 147680408 147680408 deletion of <=200bp C - frameshift_variant P157 STAD-US 6 147680408 147680408 deletion of <=200bp C - frameshift_variant P487 STAD-US 6 147680408 147680408 deletion of <=200bp C - frameshift_variant P779 STAD-US 6 147680408 147680408 deletion of <=200bp C - frameshift_variant P796 STAD-US 6 147680408 147680408 deletion of <=200bp C - frameshift_variant P832 STAD-US 6 147684527 147684527 single base substitution G T downstream_gene_variant STAD-US 6 147684527 147684527 single base substitution G T missense_variant G192C 574G>T STAD-US 6 147684527 147684527 single base substitution G T missense_variant G523C 1567G>T STAD-US 6 147684527 147684527 single base substitution G T missense_variant G815C 2443G>T STAD-US 6 147684527 147684527 single base substitution G T missense_variant G832C 2494G>T STAD-US 6 147684527 147684527 single base substitution G T missense_variant G868C 2602G>T STAD-US 6 147684582 147684582 deletion of <=200bp A - downstream_gene_variant STAD-US 6 147684582 147684582 deletion of <=200bp A - frameshift_variant E210 STAD-US 6 147684582 147684582 deletion of <=200bp A - frameshift_variant E541 STAD-US 6 147684582 147684582 deletion of <=200bp A - frameshift_variant E833 STAD-US 6 147684582 147684582 deletion of <=200bp A - frameshift_variant E850 STAD-US 6 147684582 147684582 deletion of <=200bp A - frameshift_variant E886 STAD-US 6 147684753 147684753 single base substitution C T downstream_gene_variant STAD-US 6 147684753 147684753 single base substitution C T missense_variant S598L 1793C>T STAD-US 6 147684753 147684753 single base substitution C T missense_variant S890L 2669C>T STAD-US 6 147684753 147684753 single base substitution C T missense_variant S907L 2720C>T STAD-US 6 147684753 147684753 single base substitution C T missense_variant S943L 2828C>T STAD-US 6 147685193 147685193 single base substitution G A downstream_gene_variant STAD-US 6 147685193 147685193 single base substitution G A missense_variant R646Q 1937G>A STAD-US 6 147685193 147685193 single base substitution G A missense_variant R938Q 2813G>A STAD-US 6 147685193 147685193 single base substitution G A missense_variant R955Q 2864G>A STAD-US 6 147685193 147685193 single base substitution G A missense_variant R991Q 2972G>A STAD-US 6 147703987 147703987 single base substitution C T synonymous_variant G1036G 3108C>T STAD-US 6 147703987 147703987 single base substitution C T synonymous_variant G1053G 3159C>T STAD-US 6 147703987 147703987 single base substitution C T synonymous_variant G1089G 3267C>T STAD-US 6 147703987 147703987 single base substitution C T synonymous_variant G744G 2232C>T STAD-US 6 147704088 147704088 single base substitution C T missense_variant A1070V 3209C>T STAD-US 6 147704088 147704088 single base substitution C T missense_variant A1087V 3260C>T STAD-US 6 147704088 147704088 single base substitution C T missense_variant A1123V 3368C>T STAD-US 6 147704088 147704088 single base substitution C T missense_variant A778V 2333C>T THCA-SA 6 147684835 147684835 deletion of <=200bp T - downstream_gene_variant THCA-SA 6 147684835 147684835 deletion of <=200bp T - frameshift_variant T625 THCA-SA 6 147684835 147684835 deletion of <=200bp T - frameshift_variant T917 THCA-SA 6 147684835 147684835 deletion of <=200bp T - frameshift_variant T934 THCA-SA 6 147684835 147684835 deletion of <=200bp T - frameshift_variant T970 UCEC-US 6 147525815 147525815 single base substitution C T synonymous_variant C49C 147C>T UCEC-US 6 147525815 147525815 single base substitution C T upstream_gene_variant UCEC-US 6 147527114 147527114 single base substitution G A 5_prime_UTR_variant UCEC-US 6 147527114 147527114 single base substitution G A missense_variant R53H 158G>A UCEC-US 6 147581799 147581799 single base substitution C T 5_prime_UTR_variant UCEC-US 6 147581799 147581799 single base substitution C T synonymous_variant G160G 480C>T UCEC-US 6 147588219 147588219 single base substitution G T splice_acceptor_variant UCEC-US 6 147588287 147588287 single base substitution G T 5_prime_UTR_variant UCEC-US 6 147588287 147588287 single base substitution G T missense_variant R233I 698G>T UCEC-US 6 147599230 147599230 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 6 147599230 147599230 single base substitution T C missense_variant V243A 728T>C UCEC-US 6 147631292 147631292 single base substitution G T missense_variant M330I 990G>T UCEC-US 6 147631292 147631292 single base substitution G T start_lost M1I 3G>T UCEC-US 6 147636697 147636697 single base substitution A C missense_variant E154D 462A>C UCEC-US 6 147636697 147636697 single base substitution A C missense_variant E483D 1449A>C UCEC-US 6 147637521 147637521 single base substitution C T missense_variant R265C 793C>T UCEC-US 6 147637521 147637521 single base substitution C T missense_variant R594C 1780C>T UCEC-US 6 147646170 147646170 single base substitution A G synonymous_variant G297G 891A>G UCEC-US 6 147646170 147646170 single base substitution A G synonymous_variant G626G 1878A>G UCEC-US 6 147646170 147646170 single base substitution A G upstream_gene_variant UCEC-US 6 147684583 147684583 single base substitution A C downstream_gene_variant UCEC-US 6 147684583 147684583 single base substitution A C missense_variant E210D 630A>C UCEC-US 6 147684583 147684583 single base substitution A C missense_variant E541D 1623A>C UCEC-US 6 147684583 147684583 single base substitution A C missense_variant E833D 2499A>C UCEC-US 6 147684583 147684583 single base substitution A C missense_variant E850D 2550A>C UCEC-US 6 147684583 147684583 single base substitution A C missense_variant E886D 2658A>C UCEC-US 6 147684753 147684753 single base substitution C T downstream_gene_variant UCEC-US 6 147684753 147684753 single base substitution C T missense_variant S598L 1793C>T UCEC-US 6 147684753 147684753 single base substitution C T missense_variant S890L 2669C>T UCEC-US 6 147684753 147684753 single base substitution C T missense_variant S907L 2720C>T UCEC-US 6 147684753 147684753 single base substitution C T missense_variant S943L 2828C>T UCEC-US 6 147684754 147684754 single base substitution G A downstream_gene_variant UCEC-US 6 147684754 147684754 single base substitution G A synonymous_variant S598S 1794G>A UCEC-US 6 147684754 147684754 single base substitution G A synonymous_variant S890S 2670G>A UCEC-US 6 147684754 147684754 single base substitution G A synonymous_variant S907S 2721G>A UCEC-US 6 147684754 147684754 single base substitution G A synonymous_variant S943S 2829G>A UCEC-US 6 147684764 147684764 single base substitution C T downstream_gene_variant UCEC-US 6 147684764 147684764 single base substitution C T missense_variant R602C 1804C>T UCEC-US 6 147684764 147684764 single base substitution C T missense_variant R894C 2680C>T UCEC-US 6 147684764 147684764 single base substitution C T missense_variant R911C 2731C>T UCEC-US 6 147684764 147684764 single base substitution C T missense_variant R947C 2839C>T UCEC-US 6 147685147 147685147 single base substitution T G downstream_gene_variant UCEC-US 6 147685147 147685147 single base substitution T G missense_variant L631V 1891T>G UCEC-US 6 147685147 147685147 single base substitution T G missense_variant L923V 2767T>G UCEC-US 6 147685147 147685147 single base substitution T G missense_variant L940V 2818T>G UCEC-US 6 147685147 147685147 single base substitution T G missense_variant L976V 2926T>G UCEC-US 6 147685189 147685189 single base substitution A G downstream_gene_variant UCEC-US 6 147685189 147685189 single base substitution A G missense_variant M645V 1933A>G UCEC-US 6 147685189 147685189 single base substitution A G missense_variant M937V 2809A>G UCEC-US 6 147685189 147685189 single base substitution A G missense_variant M954V 2860A>G UCEC-US 6 147685189 147685189 single base substitution A G missense_variant M990V 2968A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-22-5491-01 COSM740674 c.2234C>T p.S745L Substitution - Missense 6:147359120-147359120 + pfg008T COSM1642891 c.2146+10delT p.? Unknown 6:147334232-147334232 + ESCC_14 COSM5625567 c.801G>T p.R267S Substitution - Missense 6:147278167-147278167 + LOVO COSM3018400 c.2180delA p.M729fs*1 Deletion - Frameshift 6:147339212-147339212 + PD13165a COSM1144037 c.2686C>T p.R896W Substitution - Missense 6:147363475-147363475 + CRC-23T COSM5482636 c.3149G>A p.G1050D Substitution - Missense 6:147382841-147382841 + CHC798T COSM4950659 c.2015A>G p.Y672C Substitution - Missense 6:147327211-147327211 + L21 COSM5369474 c.3136C>A p.P1046T Substitution - Missense 6:147382828-147382828 + CHC1545T COSM4787555 c.1423A>C p.K475Q Substitution - Missense 6:147315535-147315535 + S15_pre COSM5575007 c.1171C>A p.P391T Substitution - Missense 6:147313909-147313909 + PT27 COSM5905685 c.1020G>A p.M340I Substitution - Missense 6:147310186-147310186 + TCGA-F1-6874-01 COSM3858942 c.2494G>T p.G832C Substitution - Missense 6:147363391-147363391 + S15_pre COSM5575006 c.1171C>A p.P391T Substitution - Missense 6:147313909-147313909 + 442 COSM4434691 c.1218G>A p.A406A Substitution - coding silent 6:147313956-147313956 + 3498_T COSM3948143 c.1776G>T p.G592G Substitution - coding silent 6:147316381-147316381 + EKVX COSM1672819 c.2983G>T p.G995C Substitution - Missense 6:147373740-147373740 + TCGA-HG-A2PA-01 COSM4823647 c.2318A>G p.N773S Substitution - Missense 6:147359096-147359096 + T3351 COSM4730766 c.2973G>T p.R991R Substitution - coding silent 6:147364058-147364058 + HT115 COSM3018347 c.997A>G p.K333E Substitution - Missense 6:147310163-147310163 + CLL094 COSM1292216 c.2644A>G p.N882D Substitution - Missense 6:147363433-147363433 + SJOS008_D COSM5023691 c.3306+8T>C p.? Unknown 6:147383006-147383006 + Pat_63_A COSM5869483 c.43G>A p.A15T Substitution - Missense 6:147204575-147204575 + HCC174T COSM3662188 c.1244C>T p.A415V Substitution - Missense 6:147313982-147313982 + LUAD_E00522 COSM353410 c.2751G>A p.L917L Substitution - coding silent 6:147363648-147363648 + TCGA-AP-A051-01 COSM1074347 c.2721G>A p.S907S Substitution - coding silent 6:147363618-147363618 + BZ04 COSM5757915 c.2146+9_2146+10insT p.? Unknown 6:147334231-147334232 + A6 COSM5351261 c.2080+3_2080+4insAAAAG p.? Unknown 6:147327279-147327280 + LUAD-NYU696 COSM376103 c.1872G>T p.V624V Substitution - coding silent 6:147325028-147325028 + TCGA-B5-A11E-01 COSM1074345 c.2550A>C p.E850D Substitution - Missense 6:147363447-147363447 + TCGA-BH-A18P-01 COSM1487309 c.2829G>C p.S943S Substitution - coding silent 6:147363618-147363618 + 587226 COSM1227949 c.2047C>T p.R683* Substitution - Nonsense 6:147327243-147327243 + 35M COSM5582661 c.115G>A p.E39K Substitution - Missense 6:147204647-147204647 + TCGA-CA-6717-01 COSM3697567 c.1386C>T p.F462F Substitution - coding silent 6:147314620-147314620 + TCGA-BR-8680-01 COSM1595952 c.2828C>T p.S943L Substitution - Missense 6:147363617-147363617 + TCGA-BR-4361-01 COSM3858931 c.1390G>A p.D464N Substitution - Missense 6:147314624-147314624 + D28 COSM5545901 c.2322C>A p.S774S Substitution - coding silent 6:147359100-147359100 + TCGA-AZ-4315-01 COSM1441085 c.3307C>T p.R1103* Substitution - Nonsense 6:147382891-147382891 + TCGA-BS-A0UF-01 COSM1074340 c.1449A>C p.E483D Substitution - Missense 6:147315561-147315561 + TCGA-BR-4201-01 COSM3858949 c.3260C>T p.A1087V Substitution - Missense 6:147382952-147382952 + D4 COSM5007490 c.699A>G p.R233R Substitution - coding silent 6:147267152-147267152 + DLD1 COSM3018413 c.2409T>G p.L803L Substitution - coding silent 6:147359295-147359295 + TCGA-C8-A134-01 COSM450647 c.326A>G p.N109S Substitution - Missense 6:147235327-147235327 + TCGA-FW-A3R5-06 COSM3920826 c.2827C>T p.L943L Substitution - coding silent 6:147364020-147364020 + TCGA-D1-A15X-01 COSM1074335 c.480C>T p.G160G Substitution - coding silent 6:147260663-147260663 + SNUH_G26_S1 COSM4003722 c.1307A>G p.N436S Substitution - Missense 6:147314277-147314277 + TCGA-33-4582-01 COSM740675 c.1739A>T p.Q580L Substitution - Missense 6:147316344-147316344 + S00831 COSM5660640 c.2584C>T p.P862S Substitution - Missense 6:147363481-147363481 + TCGA-AL-3473-01 COSM3994641 c.1680G>A p.E560E Substitution - coding silent 6:147316285-147316285 + S0067 COSM5884316 c.182C>T p.S61L Substitution - Missense 6:147206002-147206002 + TCGA-AA-3492-01 COSM1441073 c.75G>A p.Q25Q Substitution - coding silent 6:147204607-147204607 + TCGA-76-4925-01 COSM2157470 c.3334G>C p.G1112R Substitution - Missense 6:147382918-147382918 + TCGA-AR-A256-01 COSM1487307 c.1585A>C p.R529R Substitution - coding silent 6:147315697-147315697 + TCGA-D5-6898-01 COSM1441075 c.382C>T p.R128C Substitution - Missense 6:147239221-147239221 + TCGA-18-3411-01 COSM1150195 c.3012A>G p.A1004A Substitution - coding silent 6:147364097-147364097 + TCGA-AP-A051-01 COSM1595948 c.2968A>G p.M990V Substitution - Missense 6:147364053-147364053 + TCGA-B0-5709-01 COSM483512 c.649T>C p.S217P Substitution - Missense 6:147267102-147267102 + TCGA-AN-A0AR-01 COSM1134248 c.2146G>C p.G716R Substitution - Missense 6:147334222-147334222 + BD72T COSM5512330 c.2313G>A p.T771T Substitution - coding silent 6:147359199-147359199 + TCGA-EE-A29D-06 COSM3621355 c.3095C>T p.S1032L Substitution - Missense 6:147382787-147382787 + CHC798T COSM4950658 c.2015A>G p.Y672C Substitution - Missense 6:147327211-147327211 + TCGA-AQ-A04H-01 COSM5835119 c.3205_3206insA p.S1069fs*20 Insertion - Frameshift 6:147382789-147382790 + TCGA-AX-A05Z-01 COSM1074338 c.728T>C p.V243A Substitution - Missense 6:147278094-147278094 + TCGA-D8-A1JA-01 COSM3829266 c.2674C>T p.L892L Substitution - coding silent 6:147363571-147363571 + 2162 COSM5014650 c.2581C>T p.R861W Substitution - Missense 6:147363478-147363478 + 2492725 COSM5724802 c.1670C>T p.P557L Substitution - Missense 6:147316275-147316275 + TCGA-A5-A0VQ-01 COSM1074334 c.158G>A p.R53H Substitution - Missense 6:147205978-147205978 + HCC174 COSM3662188 c.1244C>T p.A415V Substitution - Missense 6:147313982-147313982 + TCGA-DD-A3A0-01 COSM4934755 c.972A>G p.R324R Substitution - coding silent 6:147310138-147310138 + HT115 COSM3018348 c.997A>G p.K333E Substitution - Missense 6:147310163-147310163 + ESCC_10 COSM5624016 c.945T>G p.G315G Substitution - coding silent 6:147310111-147310111 + WA16 COSM241797 c.3160G>A p.V1054I Substitution - Missense 6:147382852-147382852 + TCGA-AR-A256-01 COSM1487306 c.1585A>C p.R529R Substitution - coding silent 6:147315697-147315697 + TCGA-B0-5120-01 COSM483514 c.2871C>T p.A957A Substitution - coding silent 6:147364064-147364064 + TCGA-MH-A562-01 COSM3994643 c.1966G>C p.D656H Substitution - Missense 6:147327162-147327162 + ESO-139 COSM1267000 c.505G>T p.V169F Substitution - Missense 6:147260688-147260688 + HCC54 COSM1621032 c.2184A>G p.L728L Substitution - coding silent 6:147353360-147353360 + pfg020T COSM1642893 c.3278C>A p.A1093E Substitution - Missense 6:147382862-147382862 + 8061181 COSM3393849 c.2197+6T>C p.? Unknown 6:147353379-147353379 + 2492726 COSM5724802 c.1670C>T p.P557L Substitution - Missense 6:147316275-147316275 + TCGA-B0-5120-01 COSM1137437 c.2979C>T p.A993A Substitution - coding silent 6:147364064-147364064 + HCC54T COSM1621031 c.2292A>G p.L764L Substitution - coding silent 6:147353360-147353360 + STC252 COSM5061471 c.2582G>A p.R861Q Substitution - Missense 6:147363479-147363479 + S00829 COSM5660113 c.1313G>A p.G438D Substitution - Missense 6:147314283-147314283 + CHC892T COSM4795466 c.3265G>A p.G1089S Substitution - Missense 6:147382849-147382849 + TCGA-A8-A083-01 COSM1487308 c.2552T>A p.I851K Substitution - Missense 6:147363341-147363341 + pfg010T COSM1642890 c.650C>G p.S217C Substitution - Missense 6:147267103-147267103 + 585208 COSM326594 c.2751G>T p.L917F Substitution - Missense 6:147363648-147363648 + PTC_285 COSM5959068 c.2910delT p.F971fs*6 Deletion - Frameshift 6:147363699-147363699 + TCGA-HG-A2PA-01 COSM4823648 c.2210A>G p.N737S Substitution - Missense 6:147359096-147359096 + TCGA-EK-A3GK-01 COSM4853472 c.1305C>T p.I435I Substitution - coding silent 6:147314275-147314275 + TCGA-14-2554-01 COSM3410650 c.1021G>T p.D341Y Substitution - Missense 6:147310187-147310187 + TCGA-AX-A05W-01 COSM1074344 c.2319G>A p.S773S Substitution - coding silent 6:147359205-147359205 + 2318491 COSM4776824 c.3026C>T p.S1009L Substitution - Missense 6:147364111-147364111 + SJOS008_D COSM5023690 c.3414+8T>C p.? Unknown 6:147383006-147383006 + SCMC_RM2_ COSM4989295 c.3277G>A p.A1093T Substitution - Missense 6:147382861-147382861 + TCGA-BS-A0UF-01 COSM1595955 c.1449A>C p.E483D Substitution - Missense 6:147315561-147315561 + LC_S29 COSM1187173 c.1711G>A p.G571R Substitution - Missense 6:147316316-147316316 + TCGA-AP-A051-01 COSM1074350 c.2860A>G p.M954V Substitution - Missense 6:147364053-147364053 + BD72T COSM5512329 c.2421G>A p.T807T Substitution - coding silent 6:147359199-147359199 + RK119_C01 COSM3744973 c.2T>C p.M1T Substitution - Missense 6:147204534-147204534 + CHOL42 COSM1744481 c.348C>G p.A116A Substitution - coding silent 6:147239187-147239187 + CHEWS019 COSM4586295 c.42C>T p.T14T Substitution - coding silent 6:147204574-147204574 + TCGA-BR-8680-01 COSM3858939 c.2257G>T p.E753* Substitution - Nonsense 6:147359143-147359143 + TCGA-AN-A0AR-01 COSM450648 c.2146G>C p.A716P Substitution - Missense 6:147334222-147334222 + TCGA-EK-A3GK-01 COSM4853473 c.1305C>T p.I435I Substitution - coding silent 6:147314275-147314275 + HCC174 COSM3662189 c.1244C>T p.A415V Substitution - Missense 6:147313982-147313982 + D28 COSM5545902 c.2214C>A p.S738S Substitution - coding silent 6:147359100-147359100 + 2492725 COSM5724803 c.1670C>T p.P557L Substitution - Missense 6:147316275-147316275 + TCGA-AP-A051-01 COSM1595951 c.2829G>A p.S943S Substitution - coding silent 6:147363618-147363618 + TCGA-BR-6452-01 COSM3858935 c.2114T>A p.V705D Substitution - Missense 6:147334190-147334190 + TCGA-CD-A486-01 COSM3858927 c.1217C>T p.A406V Substitution - Missense 6:147313955-147313955 + RK119_C01 COSM3744972 c.2T>C p.M1T Substitution - Missense 6:147204534-147204534 + 413 COSM1742350 c.631-5C>G p.? Unknown 6:147267079-147267079 + SNUH_G45_S1 COSM4003720 c.432-3C>T p.? Unknown 6:147260612-147260612 + PD6684a COSM5791586 c.450G>C p.L150L Substitution - coding silent 6:147260633-147260633 + Gp2D COSM4628491 c.3009A>G p.Q1003Q Substitution - coding silent 6:147364094-147364094 + 2162 COSM5014649 c.2689C>T p.R897W Substitution - Missense 6:147363478-147363478 + TCGA-D5-6540-01 COSM1441082 c.2278G>A p.A760T Substitution - Missense 6:147359164-147359164 + TCGA-BR-8680-01 COSM1074346 c.2720C>T p.S907L Substitution - Missense 6:147363617-147363617 + TCGA-CF-A3MI-01 COSM1311644 c.204A>G p.V68V Substitution - coding silent 6:147206024-147206024 + T578 COSM3621355 c.3095C>T p.S1032L Substitution - Missense 6:147382787-147382787 + TCGA-18-3411-01 COSM740673 c.2904A>G p.A968A Substitution - coding silent 6:147364097-147364097 + SNUH_G76_S1 COSM4003724 c.2445A>G p.L815L Substitution - coding silent 6:147359223-147359223 + YUHEF COSM1698116 c.1636C>T p.R546* Substitution - Nonsense 6:147316241-147316241 + SNUH_G45_S1 COSM4003722 c.1307A>G p.N436S Substitution - Missense 6:147314277-147314277 + T2269 COSM4730768 c.3453C>A p.F1151L Substitution - Missense 6:147384752-147384752 + BD110T COSM5514185 c.566+8T>C p.? Unknown 6:147260757-147260757 + TCGA-CG-4306-01 COSM3858934 c.1705G>A p.V569M Substitution - Missense 6:147316310-147316310 + SNUH_G45_S1 COSM4003725 c.2337A>G p.L779L Substitution - coding silent 6:147359223-147359223 + RK308_C01 COSM3744975 c.1199C>A p.T400K Substitution - Missense 6:147313937-147313937 + PT55 COSM4474418 c.1919C>T p.S640F Substitution - Missense 6:147325075-147325075 + BD179T COSM5499838 c.888C>G p.L296L Substitution - coding silent 6:147291143-147291143 + B71 COSM1745501 c.2804_2805insT p.K936fs*1 Insertion - Frameshift 6:147363593-147363594 + I2L-P7-Tumor-Organoid COSM3018446 c.3348C>T p.G1116G Substitution - coding silent 6:147382932-147382932 + TCGA-GD-A3OS-01 COSM1311648 c.2046C>T p.P682P Substitution - coding silent 6:147327242-147327242 + TCGA-F4-6856-01 COSM1441084 c.2312C>T p.T771M Substitution - Missense 6:147359198-147359198 + CHC798T COSM4950658 c.2015A>G p.Y672C Substitution - Missense 6:147327211-147327211 + BD72T COSM1642891 c.2146+10delT p.? Unknown 6:147334232-147334232 + HCA46 COSM4629533 c.3325G>C p.D1109H Substitution - Missense 6:147384732-147384732 + ESCC_51 COSM5631085 c.3076G>A p.E1026K Substitution - Missense 6:147373833-147373833 + 61 COSM3018328 c.538G>A p.V180I Substitution - Missense 6:147260721-147260721 + 587234 COSM1227954 c.398C>T p.A133V Substitution - Missense 6:147239237-147239237 + HT55 COSM3018346 c.963A>T p.V321V Substitution - coding silent 6:147310129-147310129 + TCGA-B5-A11E-01 COSM1074336 c.631-1G>T p.? Unknown 6:147267083-147267083 + TCGA-FW-A3R5-06 COSM3920825 c.2935C>T p.L979L Substitution - coding silent 6:147364020-147364020 + S02256 COSM5681343 c.2781A>C p.S927S Substitution - coding silent 6:147363570-147363570 + TCGA-33-4582-01 COSM1150193 c.1739A>T p.Q580L Substitution - Missense 6:147316344-147316344 + S00829 COSM5660114 c.1313G>A p.G438D Substitution - Missense 6:147314283-147314283 + T3064 COSM3621354 c.3203C>T p.S1068L Substitution - Missense 6:147382787-147382787 + TCGA-H4-A2HQ-01 COSM1311645 c.1992C>G p.L664L Substitution - coding silent 6:147327188-147327188 + S02322 COSM5691506 c.25G>A p.V9M Substitution - Missense 6:147204557-147204557 + TCGA-AN-A046-01 COSM3829263 c.488G>A p.R163Q Substitution - Missense 6:147260671-147260671 + BD110T COSM5514186 c.566+8T>C p.? Unknown 6:147260757-147260757 + cSCCP5 COSM137929 c.2968C>A p.L990I Substitution - Missense 6:147364161-147364161 + TCGA-D1-A15X-01 COSM1595960 c.480C>T p.G160G Substitution - coding silent 6:147260663-147260663 + TCGA-D1-A17Q-01 COSM1595949 c.2926T>G p.L976V Substitution - Missense 6:147364011-147364011 + TCGA-37-4135-01 COSM740678 c.446A>T p.H149L Substitution - Missense 6:147260629-147260629 + BZ04 COSM5757914 c.2146+9_2146+10insT p.? Unknown 6:147334231-147334232 + HCC174T COSM3662189 c.1244C>T p.A415V Substitution - Missense 6:147313982-147313982 + TCGA-76-4925 COSM2157470 c.3334G>C p.G1112R Substitution - Missense 6:147382918-147382918 + HCC54T COSM1621032 c.2184A>G p.L728L Substitution - coding silent 6:147353360-147353360 + CHC798T COSM4950659 c.2015A>G p.Y672C Substitution - Missense 6:147327211-147327211 + PTC_285 COSM5959069 c.2802delT p.F935fs*6 Deletion - Frameshift 6:147363699-147363699 + TCGA-BR-A4J4-01 COSM3858944 c.2972G>A p.R991Q Substitution - Missense 6:147364057-147364057 + LP6005690-DNA_E03 COSM5952739 c.431G>T p.R144M Substitution - Missense 6:147239270-147239270 + TCGA-D1-A101-01 COSM1074343 c.1989G>A p.L663L Substitution - coding silent 6:147327185-147327185 + ESO-0013 COSM1266999 c.136T>G p.F46V Substitution - Missense 6:147204668-147204668 + TCGA-AP-A056-01 COSM1074348 c.2731C>T p.R911C Substitution - Missense 6:147363628-147363628 + TCGA-H4-A2HQ-01 COSM1311646 c.1992C>G p.L664L Substitution - coding silent 6:147327188-147327188 + 587226 COSM1227950 c.2047C>T p.R683* Substitution - Nonsense 6:147327243-147327243 + T3351 COSM4730767 c.2865G>T p.R955R Substitution - coding silent 6:147364058-147364058 + CHC892T COSM4795466 c.3265G>A p.G1089S Substitution - Missense 6:147382849-147382849 + TCGA-AX-A05Z-01 COSM1595952 c.2828C>T p.S943L Substitution - Missense 6:147363617-147363617 + TCGA-EE-A2MR-06 COSM3621348 c.56C>T p.S19L Substitution - Missense 6:147204588-147204588 + TCGA-F1-A448-01 COSM3858930 c.1352T>G p.I451S Substitution - Missense 6:147314322-147314322 + TCGA-EE-A2GC-06 COSM3621352 c.3102C>A p.F1034L Substitution - Missense 6:147373751-147373751 + BD72T COSM1642892 c.2146+10delT p.? Unknown 6:147334232-147334232 + EKVX COSM1672818 c.3091G>T p.G1031C Substitution - Missense 6:147373740-147373740 + 16461 COSM5615609 c.1184A>T p.H395L Substitution - Missense 6:147313922-147313922 + TCGA-D8-A1JA-01 COSM3829265 c.2782C>T p.L928L Substitution - coding silent 6:147363571-147363571 + 61 COSM3018327 c.538G>A p.V180I Substitution - Missense 6:147260721-147260721 + TCGA-33-4532-01 COSM1150192 c.1418T>G p.L473* Substitution - Nonsense 6:147315530-147315530 + SNUH_G45_S1 COSM4003723 c.1307A>G p.N436S Substitution - Missense 6:147314277-147314277 + TCGA-CU-A0YN-01 COSM1133751 c.3380C>G p.S1127* Substitution - Nonsense 6:147382964-147382964 + SCMC_RM2_ COSM4989296 c.3169G>A p.A1057T Substitution - Missense 6:147382861-147382861 + TCGA-A6-5661-01 COSM1441080 c.2254+2T>C p.? Unknown 6:147339386-147339386 + 413 COSM1742351 c.631-5C>G p.? Unknown 6:147267079-147267079 + GC_370T-GC_370N COSM4773045 c.1793C>A p.P598H Substitution - Missense 6:147316398-147316398 + 3N35-VS-3T35 COSM4981111 c.1990C>T p.L664F Substitution - Missense 6:147327186-147327186 + TCGA-CA-6717-01 COSM3697566 c.1386C>T p.F462F Substitution - coding silent 6:147314620-147314620 + TCGA-76-4925-01 COSM2157471 c.3226G>C p.G1076R Substitution - Missense 6:147382918-147382918 + Pat_74_B COSM5869485 c.1803-1G>A p.? Unknown 6:147324958-147324958 + CSCC-7-T COSM4474418 c.1919C>T p.S640F Substitution - Missense 6:147325075-147325075 + S02256 COSM5681344 c.2673A>C p.S891S Substitution - coding silent 6:147363570-147363570 + ESO-139 COSM1267001 c.505G>T p.V169F Substitution - Missense 6:147260688-147260688 + TCGA-BR-8680-01 COSM3858946 c.3267C>T p.G1089G Substitution - coding silent 6:147382851-147382851 + TCGA-D1-A168-01 COSM1074342 c.1878A>G p.G626G Substitution - coding silent 6:147325034-147325034 + CHOL42 COSM1744482 c.348C>G p.A116A Substitution - coding silent 6:147239187-147239187 + pfg124T COSM1568026 c.1042C>G p.L348V Substitution - Missense 6:147310208-147310208 + LP6005334-DNA_E01 COSM4412541 c.1369G>T p.D457Y Substitution - Missense 6:147314603-147314603 + LP6005690-DNA_E03 COSM176935 c.431G>T p.R144M Substitution - Missense 6:147239270-147239270 + 2318491 COSM4776825 c.2918C>T p.S973L Substitution - Missense 6:147364111-147364111 + GC_370T-GC_370N COSM4773046 c.1793C>A p.P598H Substitution - Missense 6:147316398-147316398 + TCGA-A8-A083-01 COSM450651 c.2444T>A p.I815K Substitution - Missense 6:147363341-147363341 + 8035705 COSM3393847 c.373T>C p.W125R Substitution - Missense 6:147239212-147239212 + T3090 COSM4730764 c.2514G>A p.A838A Substitution - coding silent 6:147363411-147363411 + CLL094 COSM1292217 c.2536A>G p.N846D Substitution - Missense 6:147363433-147363433 + ATL089 COSM5709899 c.2809C>A p.Q937K Substitution - Missense 6:147363598-147363598 + TCGA-BS-A0UV-01 COSM1074341 c.1780C>T p.R594C Substitution - Missense 6:147316385-147316385 + TCGA-D5-6928-01 COSM1441077 c.669G>T p.W223C Substitution - Missense 6:147267122-147267122 + T3094 COSM3018386 c.2051_2053delCTC p.P685delP Deletion - In frame 6:147327247-147327249 + T578 COSM3621354 c.3203C>T p.S1068L Substitution - Missense 6:147382787-147382787 + SA1 COSM1166342 c.977G>A p.C326Y Substitution - Missense 6:147310143-147310143 + DLD1 COSM3018415 c.2548G>A p.E850K Substitution - Missense 6:147363445-147363445 + 227 COSM4426009 c.1567G>C p.A523P Substitution - Missense 6:147315679-147315679 + TCGA-CG-4305-01 COSM3858926 c.909T>C p.T303T Substitution - coding silent 6:147291164-147291164 + 227 COSM4426008 c.1567G>C p.A523P Substitution - Missense 6:147315679-147315679 + HN_62421 COSM121969 c.675C>G p.L225L Substitution - coding silent 6:147267128-147267128 + TCGA-AA-3492-01 COSM1441072 c.75G>A p.Q25Q Substitution - coding silent 6:147204607-147204607 + ATL089 COSM5709900 c.2701C>A p.Q901K Substitution - Missense 6:147363598-147363598 + SNUH_G26_S1 COSM4003724 c.2445A>G p.L815L Substitution - coding silent 6:147359223-147359223 + SNUH_G45_S1 COSM4003724 c.2445A>G p.L815L Substitution - coding silent 6:147359223-147359223 + pfg054T COSM4762428 c.2029C>G p.P677A Substitution - Missense 6:147327225-147327225 + sysucc-1370T COSM483513 c.2863C>T p.R955W Substitution - Missense 6:147364056-147364056 + TCGA-BP-5183-01 COSM483513 c.2863C>T p.R955W Substitution - Missense 6:147364056-147364056 + TCGA-UC-A7PF-01 COSM4830116 c.2248G>C p.D750H Substitution - Missense 6:147339378-147339378 + TCGA-AO-A0J4-01 COSM1134249 c.2422G>A p.D808N Substitution - Missense 6:147359200-147359200 + TCGA-AQ-A04H-01 COSM5835120 c.3097_3098insA p.S1033fs*20 Insertion - Frameshift 6:147382789-147382790 + T2269 COSM4730769 c.3345C>A p.F1115L Substitution - Missense 6:147384752-147384752 + TCGA-D1-A16F-01 COSM1074333 c.147C>T p.C49C Substitution - coding silent 6:147204679-147204679 + TCGA-FS-A1ZC-06 COSM3621346 c.46G>A p.G16S Substitution - Missense 6:147204578-147204578 + TCGA-AA-3966-01 COSM273314 c.2022T>G p.S674S Substitution - coding silent 6:147327218-147327218 + TCGA-F1-A448-01 COSM3858929 c.1352T>G p.I451S Substitution - Missense 6:147314322-147314322 + TCGA-BP-5183-01 COSM1137436 c.2971C>T p.R991W Substitution - Missense 6:147364056-147364056 + TCGA-C8-A134-01 COSM1487305 c.326A>G p.N109S Substitution - Missense 6:147235327-147235327 + pfg054T COSM4762427 c.2029C>G p.P677A Substitution - Missense 6:147327225-147327225 + 66 COSM5743157 c.1274G>A p.R425H Substitution - Missense 6:147314012-147314012 + TCGA-BR-4201-01 COSM3858948 c.3368C>T p.A1123V Substitution - Missense 6:147382952-147382952 + TCGA-BR-8680-01 COSM3858938 c.2365G>T p.E789* Substitution - Nonsense 6:147359143-147359143 + TCGA-22-5491-01 COSM1150194 c.2342C>T p.S781L Substitution - Missense 6:147359120-147359120 + TCGA-AF-6672-01 COSM1568026 c.1042C>G p.L348V Substitution - Missense 6:147310208-147310208 + YUHEF COSM1698117 c.1636C>T p.R546* Substitution - Nonsense 6:147316241-147316241 + 587234 COSM1227953 c.398C>T p.A133V Substitution - Missense 6:147239237-147239237 + T3090 COSM4730763 c.2622G>A p.A874A Substitution - coding silent 6:147363411-147363411 + Pat_63_A COSM5869482 c.43G>A p.A15T Substitution - Missense 6:147204575-147204575 + CHC1545T COSM4787554 c.1423A>C p.K475Q Substitution - Missense 6:147315535-147315535 + HT55 COSM3018345 c.963A>T p.V321V Substitution - coding silent 6:147310129-147310129 + SA1 COSM1166343 c.977G>A p.C326Y Substitution - Missense 6:147310143-147310143 + 3498_T COSM3948142 c.1776G>T p.G592G Substitution - coding silent 6:147316381-147316381 + 587332 COSM1227952 c.1145G>T p.G382V Substitution - Missense 6:147311527-147311527 + TCGA-D5-6540-01 COSM1441081 c.2386G>A p.A796T Substitution - Missense 6:147359164-147359164 + T368 COSM4730760 c.2535G>A p.V845V Substitution - coding silent 6:147359313-147359313 + PD23559a COSM5014649 c.2689C>T p.R897W Substitution - Missense 6:147363478-147363478 + HCT15 COSM3018412 c.2517T>G p.L839L Substitution - coding silent 6:147359295-147359295 + TCGA-AN-A046-01 COSM3829264 c.488G>A p.R163Q Substitution - Missense 6:147260671-147260671 + TCGA-DD-A39X-01 COSM4940688 c.2372G>T p.R791L Substitution - Missense 6:147359150-147359150 + TCGA-CF-A3MI-01 COSM1311643 c.204A>G p.V68V Substitution - coding silent 6:147206024-147206024 + TCGA-AR-A2LE-01 COSM3829262 c.144C>T p.L48L Substitution - coding silent 6:147204676-147204676 + pfg020T COSM1642894 c.3170C>A p.A1057E Substitution - Missense 6:147382862-147382862 + 16461 COSM5615608 c.1184A>T p.H395L Substitution - Missense 6:147313922-147313922 + TCGA-EE-A29D-06 COSM3621354 c.3203C>T p.S1068L Substitution - Missense 6:147382787-147382787 + TCGA-CD-A486-01 COSM3858928 c.1217C>T p.A406V Substitution - Missense 6:147313955-147313955 + 1N33-VS-1T33 COSM4974637 c.1113G>T p.K371N Substitution - Missense 6:147311495-147311495 + TCGA-BR-8680-01 COSM3858947 c.3159C>T p.G1053G Substitution - coding silent 6:147382851-147382851 + S01512 COSM315673 c.3127C>A p.Q1043K Substitution - Missense 6:147382819-147382819 + RK308_C01 COSM3744974 c.1199C>A p.T400K Substitution - Missense 6:147313937-147313937 + CHC892T COSM4795467 c.3157G>A p.G1053S Substitution - Missense 6:147382849-147382849 + I2L-P25-Tumor-Organoid COSM3018397 c.2110G>T p.V704F Substitution - Missense 6:147334186-147334186 + LPJ023 COSM1315938 c.2185A>C p.M729L Substitution - Missense 6:147339217-147339217 + TCGA-D1-A16F-01 COSM1595961 c.147C>T p.C49C Substitution - coding silent 6:147204679-147204679 + H650 COSM1194344 c.2151G>T p.K717N Substitution - Missense 6:147353327-147353327 + BD179T COSM5499837 c.888C>G p.L296L Substitution - coding silent 6:147291143-147291143 + TCGA-BS-A0UV-01 COSM1595954 c.1780C>T p.R594C Substitution - Missense 6:147316385-147316385 + LPJ023 COSM1315937 c.2182A>G p.K728E Substitution - Missense 6:147339214-147339214 + ESCC_10 COSM5624015 c.945T>G p.G315G Substitution - coding silent 6:147310111-147310111 + SNUH_G26_S1 COSM4003725 c.2337A>G p.L779L Substitution - coding silent 6:147359223-147359223 + TCGA-AR-A2LE-01 COSM3829261 c.144C>T p.L48L Substitution - coding silent 6:147204676-147204676 + TCGA-BR-4361-01 COSM3858932 c.1390G>A p.D464N Substitution - Missense 6:147314624-147314624 + Pat_74_A COSM5869485 c.1803-1G>A p.? Unknown 6:147324958-147324958 + TCGA-CU-A0YN-01 COSM421043 c.3272C>G p.S1091* Substitution - Nonsense 6:147382964-147382964 + DN111AA COSM594682 c.2578C>T p.R860W Substitution - Missense 6:147363475-147363475 + SNUH_G26_S1 COSM4003723 c.1307A>G p.N436S Substitution - Missense 6:147314277-147314277 + L21 COSM5369473 c.3244C>A p.P1082T Substitution - Missense 6:147382828-147382828 + DLD1 COSM3018414 c.2656G>A p.E886K Substitution - Missense 6:147363445-147363445 + TCGA-D1-A17Q-01 COSM1074349 c.2818T>G p.L940V Substitution - Missense 6:147364011-147364011 + T3094 COSM3018387 c.2051_2053delCTC p.P685delP Deletion - In frame 6:147327247-147327249 + 587332 COSM1227951 c.1145G>T p.G382V Substitution - Missense 6:147311527-147311527 + TCGA-GF-A6C9-06 COSM4899957 c.415A>G p.K139E Substitution - Missense 6:147239254-147239254 + 3N35-VS-3T35 COSM4981112 c.1990C>T p.L664F Substitution - Missense 6:147327186-147327186 + TCGA-AP-A0LM-01 COSM1074337 c.698G>T p.R233I Substitution - Missense 6:147267151-147267151 + LC_S6 COSM1190787 c.3011_3012delCT p.P1004fs*9 Deletion - Frameshift 6:147373768-147373769 + TCGA-AP-A051-01 COSM1595956 c.990G>T p.M330I Substitution - Missense 6:147310156-147310156 + 8035705 COSM3393846 c.373T>C p.W125R Substitution - Missense 6:147239212-147239212 + TCGA-BR-A4J4-01 COSM3858945 c.2864G>A p.R955Q Substitution - Missense 6:147364057-147364057 + TCGA-76-4925 COSM2157471 c.3226G>C p.G1076R Substitution - Missense 6:147382918-147382918 + I2L-P25-Tumor-Organoid COSM3018398 c.2110G>T p.V704F Substitution - Missense 6:147334186-147334186 + TCGA-F4-6856-01 COSM1441083 c.2420C>T p.T807M Substitution - Missense 6:147359198-147359198 + HCT8 COSM3018414 c.2656G>A p.E886K Substitution - Missense 6:147363445-147363445 + TCGA-D5-6928-01 COSM1441076 c.669G>T p.W223C Substitution - Missense 6:147267122-147267122 + CHC1545T COSM4787554 c.1423A>C p.K475Q Substitution - Missense 6:147315535-147315535 + ESO-0013 COSM1266998 c.136T>G p.F46V Substitution - Missense 6:147204668-147204668 + I2L-P7-Tumor-Organoid COSM3018447 c.3240C>T p.G1080G Substitution - coding silent 6:147382932-147382932 + SNUH_G76_S1 COSM4003723 c.1307A>G p.N436S Substitution - Missense 6:147314277-147314277 + TCGA-EI-6917-01 COSM3430096 c.410C>T p.S137L Substitution - Missense 6:147239249-147239249 + TCGA-14-2554-01 COSM3410649 c.1021G>T p.D341Y Substitution - Missense 6:147310187-147310187 + TCGA-BT-A20T-01 COSM1133750 c.2036G>A p.R679Q Substitution - Missense 6:147327232-147327232 + T3064 COSM3621355 c.3095C>T p.S1032L Substitution - Missense 6:147382787-147382787 + TCGA-B0-5709-01 COSM1137435 c.649T>C p.S217P Substitution - Missense 6:147267102-147267102 + 49M COSM5593322 c.1294G>A p.E432K Substitution - Missense 6:147314264-147314264 + TCGA-AG-A002-01 COSM263901 c.622G>A p.E208K Substitution - Missense 6:147262345-147262345 + CHC1545T COSM4787555 c.1423A>C p.K475Q Substitution - Missense 6:147315535-147315535 + S01512 COSM315673 c.3127C>A p.Q1043K Substitution - Missense 6:147382819-147382819 + ESCC_BICR_027T COSM5443326 c.2889T>A p.C963* Substitution - Nonsense 6:147363678-147363678 + TCGA-GD-A3OS-01 COSM1311647 c.2046C>T p.P682P Substitution - coding silent 6:147327242-147327242 + S0067 COSM5884315 c.182C>T p.S61L Substitution - Missense 6:147206002-147206002 + TCGA-BT-A20T-01 COSM421044 c.2036G>A p.R679Q Substitution - Missense 6:147327232-147327232 + sysucc-1370T COSM1137436 c.2971C>T p.R991W Substitution - Missense 6:147364056-147364056 + TCGA-AX-A05Z-01 COSM1595957 c.728T>C p.V243A Substitution - Missense 6:147278094-147278094 + B71 COSM1745502 c.2696_2697insT p.K900fs*1 Insertion - Frameshift 6:147363593-147363594 + PT55 COSM4474419 c.1919C>T p.S640F Substitution - Missense 6:147325075-147325075 + TCGA-AP-A0LM-01 COSM1595958 c.698G>T p.R233I Substitution - Missense 6:147267151-147267151 + 2492724 COSM5724803 c.1670C>T p.P557L Substitution - Missense 6:147316275-147316275 + ESCC_14 COSM5625568 c.801G>T p.R267S Substitution - Missense 6:147278167-147278167 + SNUH_G76_S1 COSM4003725 c.2337A>G p.L779L Substitution - coding silent 6:147359223-147359223 + TCGA-EB-A44R-06 COSM3621351 c.959C>T p.T320I Substitution - Missense 6:147310125-147310125 + TCGA-DD-A3A0-01 COSM4934756 c.972A>G p.R324R Substitution - coding silent 6:147310138-147310138 + 49M COSM5593323 c.1294G>A p.E432K Substitution - Missense 6:147314264-147314264 + LC_S6 COSM1190786 c.3119_3120delCT p.P1040fs*9 Deletion - Frameshift 6:147373768-147373769 + TCGA-AA-A010-01 COSM285431 c.2766C>T p.C922C Substitution - coding silent 6:147363663-147363663 + ESCC_BICR_027T COSM5443327 c.2781T>A p.C927* Substitution - Nonsense 6:147363678-147363678 + S01512 COSM5668864 c.3235C>A p.Q1079K Substitution - Missense 6:147382819-147382819 + TCGA-MH-A562-01 COSM3994642 c.1966G>C p.D656H Substitution - Missense 6:147327162-147327162 + TCGA-AP-A056-01 COSM1595950 c.2839C>T p.R947C Substitution - Missense 6:147363628-147363628 + CRC-23T COSM5482635 c.3257G>A p.G1086D Substitution - Missense 6:147382841-147382841 + PT27 COSM5905684 c.1020G>A p.M340I Substitution - Missense 6:147310186-147310186 + T3118 COSM594682 c.2578C>T p.R860W Substitution - Missense 6:147363475-147363475 + TCGA-AZ-4315-01 COSM1441086 c.3199C>T p.R1067* Substitution - Nonsense 6:147382891-147382891 + HN_62539 COSM129489 c.2960G>A p.C987Y Substitution - Missense 6:147364153-147364153 + TCGA-D5-6898-01 COSM1441074 c.382C>T p.R128C Substitution - Missense 6:147239221-147239221 + TCGA-C5-A1BQ-01 COSM4841735 c.62C>T p.S21L Substitution - Missense 6:147204594-147204594 + H650 COSM1194343 c.2259G>T p.K753N Substitution - Missense 6:147353327-147353327 + HCT8 COSM3018415 c.2548G>A p.E850K Substitution - Missense 6:147363445-147363445 + PD23559a COSM5014650 c.2581C>T p.R861W Substitution - Missense 6:147363478-147363478 + TCGA-CG-4306-01 COSM3858933 c.1705G>A p.V569M Substitution - Missense 6:147316310-147316310 + SNUH_G76_S1 COSM4003722 c.1307A>G p.N436S Substitution - Missense 6:147314277-147314277 + TCGA-CG-4305-01 COSM3858925 c.909T>C p.T303T Substitution - coding silent 6:147291164-147291164 + Gp2D COSM4628492 c.2901A>G p.Q967Q Substitution - coding silent 6:147364094-147364094 + TCGA-AP-A051-01 COSM1074339 c.990G>T p.M330I Substitution - Missense 6:147310156-147310156 + STC252 COSM5061470 c.2690G>A p.R897Q Substitution - Missense 6:147363479-147363479 + TCGA-C5-A1BQ-01 COSM4841734 c.62C>T p.S21L Substitution - Missense 6:147204594-147204594 + DN111AA COSM1144037 c.2686C>T p.R896W Substitution - Missense 6:147363475-147363475 + TCGA-EE-A2MR-06 COSM3621349 c.56C>T p.S19L Substitution - Missense 6:147204588-147204588 + TCGA-B5-A11E-01 COSM1595953 c.2658A>C p.E886D Substitution - Missense 6:147363447-147363447 + D28 COSM5545900 c.721C>T p.H241Y Substitution - Missense 6:147278087-147278087 + 2492726 COSM5724803 c.1670C>T p.P557L Substitution - Missense 6:147316275-147316275 + D28 COSM5545899 c.721C>T p.H241Y Substitution - Missense 6:147278087-147278087 + LUAD-NYU330 COSM373847 c.2715G>T p.E905D Substitution - Missense 6:147363612-147363612 + LC_S29 COSM1187172 c.1711G>A p.G571R Substitution - Missense 6:147316316-147316316 + CHC892T COSM4795467 c.3157G>A p.G1053S Substitution - Missense 6:147382849-147382849 + TCGA-AX-A05Z-01 COSM1074346 c.2720C>T p.S907L Substitution - Missense 6:147363617-147363617 + TCGA-F1-6874-01 COSM3858941 c.2602G>T p.G868C Substitution - Missense 6:147363391-147363391 + PD13165a COSM594682 c.2578C>T p.R860W Substitution - Missense 6:147363475-147363475 + CHEWS019 COSM4586294 c.42C>T p.T14T Substitution - coding silent 6:147204574-147204574 + PD6684a COSM5791585 c.450G>C p.L150L Substitution - coding silent 6:147260633-147260633 + 06-P036 COSM4586297 c.86C>T p.P29L Substitution - Missense 6:147204618-147204618 + HCT15 COSM3018414 c.2656G>A p.E886K Substitution - Missense 6:147363445-147363445 + TCGA-EB-A44R-06 COSM3621350 c.959C>T p.T320I Substitution - Missense 6:147310125-147310125 + ESCC_51 COSM5631084 c.3184G>A p.E1062K Substitution - Missense 6:147373833-147373833 + TCGA-E2-A10C-01 COSM450649 c.2173G>A p.D725N Substitution - Missense 6:147339205-147339205 + 27 COSM1074348 c.2731C>T p.R911C Substitution - Missense 6:147363628-147363628 + TCGA-33-4532-01 COSM740676 c.1418T>G p.L473* Substitution - Nonsense 6:147315530-147315530 + TCGA-AL-3473-01 COSM3994640 c.1680G>A p.E560E Substitution - coding silent 6:147316285-147316285 + Pat_74_B COSM5869484 c.1803-1G>A p.? Unknown 6:147324958-147324958 + HCA46 COSM4629532 c.3433G>C p.D1145H Substitution - Missense 6:147384732-147384732 + TCGA-B5-A11E-01 COSM1595959 c.631-1G>T p.? Unknown 6:147267083-147267083 + SJHYPO039 COSM4775631 c.1233C>T p.D411D Substitution - coding silent 6:147313971-147313971 + TCGA-BH-A18P-01 COSM450652 c.2721G>C p.S907S Substitution - coding silent 6:147363618-147363618 + TCGA-EI-6917-01 COSM3430095 c.410C>T p.S137L Substitution - Missense 6:147239249-147239249 + Pat_74_A COSM5869484 c.1803-1G>A p.? Unknown 6:147324958-147324958 + 66 COSM5743158 c.1274G>A p.R425H Substitution - Missense 6:147314012-147314012 + 27 COSM1595950 c.2839C>T p.R947C Substitution - Missense 6:147363628-147363628 + TCGA-HU-8602-01 COSM3858923 c.708T>C p.Y236Y Substitution - coding silent 6:147267161-147267161 + 35M COSM5582662 c.115G>A p.E39K Substitution - Missense 6:147204647-147204647 + T368 COSM4730761 c.2427G>A p.V809V Substitution - coding silent 6:147359313-147359313 + SNUH_G45_S1 COSM4003721 c.432-3C>T p.? Unknown 6:147260612-147260612 + S02322 COSM5691507 c.25G>A p.V9M Substitution - Missense 6:147204557-147204557 + pfg124T COSM1568025 c.1042C>G p.L348V Substitution - Missense 6:147310208-147310208 + TCGA-AO-A0J4-01 COSM450650 c.2314G>A p.D772N Substitution - Missense 6:147359200-147359200 + CSCC-7-T COSM4474419 c.1919C>T p.S640F Substitution - Missense 6:147325075-147325075 + 442 COSM4434692 c.1218G>A p.A406A Substitution - coding silent 6:147313956-147313956 + HCT15 COSM3018413 c.2409T>G p.L803L Substitution - coding silent 6:147359295-147359295 + TCGA-AF-6672-01 COSM1568025 c.1042C>G p.L348V Substitution - Missense 6:147310208-147310208 + LP6005334-DNA_E01 COSM4412540 c.1369G>T p.D457Y Substitution - Missense 6:147314603-147314603 + D4 COSM5007489 c.699A>G p.R233R Substitution - coding silent 6:147267152-147267152 + MO_1124 COSM5570480 c.2854A>G p.T952A Substitution - Missense 6:147364047-147364047 + TCGA-HU-8602-01 COSM3858924 c.708T>C p.Y236Y Substitution - coding silent 6:147267161-147267161 + T3118 COSM1144037 c.2686C>T p.R896W Substitution - Missense 6:147363475-147363475 + HCC54 COSM1621031 c.2292A>G p.L764L Substitution - coding silent 6:147353360-147353360 + 8061181 COSM3393848 c.2305+6T>C p.? Unknown 6:147353379-147353379 + HCT15 COSM3018415 c.2548G>A p.E850K Substitution - Missense 6:147363445-147363445 + SJHYPO039 COSM4775632 c.1233C>T p.D411D Substitution - coding silent 6:147313971-147313971 + MO_1124 COSM5570479 c.2962A>G p.T988A Substitution - Missense 6:147364047-147364047 + TCGA-BR-6452-01 COSM3858936 c.2114T>A p.V705D Substitution - Missense 6:147334190-147334190 + A6 COSM5351260 c.2080+3_2080+4insAAAAG p.? Unknown 6:147327279-147327280 + TCGA-GF-A6C9-06 COSM4899958 c.415A>G p.K139E Substitution - Missense 6:147239254-147239254 + DLD1 COSM3018412 c.2517T>G p.L839L Substitution - coding silent 6:147359295-147359295 + TCGA-37-4135-01 COSM1150190 c.446A>T p.H149L Substitution - Missense 6:147260629-147260629 + S00831 COSM5660639 c.2692C>T p.P898S Substitution - Missense 6:147363481-147363481 + TCGA-DD-A39X-01 COSM4940689 c.2264G>T p.R755L Substitution - Missense 6:147359150-147359150 + pfg008T COSM1642892 c.2146+10delT p.? Unknown 6:147334232-147334232 + pfg010T COSM1642889 c.650C>G p.S217C Substitution - Missense 6:147267103-147267103 + 06-P036 COSM4586296 c.86C>T p.P29L Substitution - Missense 6:147204618-147204618 + 1N33-VS-1T33 COSM4974638 c.1113G>T p.K371N Substitution - Missense 6:147311495-147311495 + 2492724 COSM5724802 c.1670C>T p.P557L Substitution - Missense 6:147316275-147316275 + TCGA-EE-A2GC-06 COSM3621353 c.2994C>A p.F998L Substitution - Missense 6:147373751-147373751 + TCGA-FS-A1ZC-06 COSM3621347 c.46G>A p.G16S Substitution - Missense 6:147204578-147204578 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.86320 6q24.3 604586

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I786L c.2356A>C 6 147680270 LUAD A C Synonymous p.R529R c.1585A>C 6 147636833 BRCA A G Missense p.N109S c.326A>G 6 147556463 BRCA A G Missense p.N882D c.2644A>G 6 147684569 CLL A G Synonymous p.A1004A c.3012A>G 6 147685233 LUSC A G Synonymous p.G626G c.1878A>G 6 147646170 UCEC A G Synonymous p.V68V c.204A>G 6 147527160 BLCA A T Missense p.H149L c.446A>T 6 147581765 LUSC A T Missense p.H395L c.1184A>T 6 147635058 NSCLC A T Missense p.Q580L c.1739A>T 6 147637480 LUSC C A Missense p.A1093E c.3278C>A 6 147703998 STAD C A Missense p.F1034L c.3102C>A 6 147694887 CM C A Missense p.L225I c.673C>A 6 147588262 LUAD C A Missense p.Q1079K c.3235C>A 6 147703955 SCLC C G Missense p.S217C c.650C>G 6 147588239 STAD C G Missense p.S610C c.1829C>G 6 147646121 MM C G Nonsense p.S1127* c.3380C>G 6 147704100 BLCA C G Synonymous p.L225L c.675C>G 6 147588264 HNSC C G Synonymous p.L664L c.1992C>G 6 147648324 BLCA C T Missense p.A1123V c.3368C>T 6 147704088 STAD C T Missense p.R991W c.2971C>T 6 147685192 THCA C T Missense p.S781L c.2342C>T 6 147680256 LUSC C T Missense p.T353I c.1058C>T 6 147631360 LUAD C T Synonymous p.A993A c.2979C>T 6 147685200 RCCC C T Synonymous p.C49C c.147C>T 6 147525815 UCEC C T Synonymous p.I71I c.213C>T 6 147527169 CM C T Synonymous p.P682P c.2046C>T 6 147648378 BLCA G A Missense p.C1023Y c.3068G>A 6 147685289 HNSC G A Missense p.D708N c.2122G>A 6 147655334 HNSC G A Missense p.D808N c.2422G>A 6 147680336 BRCA G A Missense p.E1088K c.3262G>A 6 147703982 LUAD G A Missense p.G1046R c.3136G>A 6 147694921 HNSC G A Missense p.G16S c.46G>A 6 147525714 CM G A Missense p.R53H c.158G>A 6 147527114 UCEC G A Missense p.R679Q c.2036G>A 6 147648368 BLCA G A Missense p.V569M c.1705G>A 6 147637446 STAD G A Synonymous p.Q907Q c.2721G>A 6 147684646 HNSC G C IntronicSNV . c.839-3325G>C 6 147608905 CLL G C Missense p.G1112R c.3334G>C 6 147704054 GBM G C Missense p.G716R c.2146G>C 6 147655358 BRCA G T Missense p.D341Y c.1021G>T 6 147631323 GBM G T Missense p.G868C c.2602G>T 6 147684527 STAD G T Missense p.L953F c.2859G>T 6 147684784 SCLC G T Missense p.S972I c.2915G>T 6 147684840 LUAD G T Missense p.V169F c.505G>T 6 147581824 ESCA G T SpliceAcceptorSNV . c.1803-1G>T 6 147646094 LUAD G T Synonymous p.T820T c.2460G>T 6 147680374 LUAD T A IntronicSNV . c.838+2387T>A 6 147601727 PIA T A IntronicSNV . c.838+4975T>A 6 147604315 CLL T A Missense p.I851K c.2552T>A 6 147684477 BRCA T C Missense p.S217P c.649T>C 6 147588238 RCCC T C Missense p.S508P c.1522T>C 6 147636770 STAD T C Synonymous p.T303T c.909T>C 6 147612300 STAD T G Missense p.F46V c.136T>G 6 147525804 ESCA T G Nonsense p.L473* c.1418T>G 6 147636666 LUSC T - IntronicDeletion . c.2146+18delT 6 147655368 STAD T - IntronicDeletion . c.3415-11delT 6 147705832 STAD