Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 2 61417514 61417514 + Silent SNP G G T TCGA-OR-A5JH-01A-11D-A30A-10 TCGA-OR-A5JH-10A-01D-A30A-10 g.chr2:61417514G>T c.9765C>A c.(9763-9765)gcC>gcA p.A3255A ACC 2 61463189 61463189 + Missense_Mutation SNP A A C TCGA-OR-A5LA-01A-11D-A29I-10 TCGA-OR-A5LA-10A-01D-A29L-10 g.chr2:61463189A>C c.6938T>G c.(6937-6939)cTa>cGa p.L2313R ACC 2 61571010 61571010 + Missense_Mutation SNP A A G TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr2:61571010A>G c.2440T>C c.(2440-2442)Tct>Cct p.S814P BLCA 2 61415238 61415238 + Nonstop_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr2:61415238C>G c.10640G>C c.(10639-10641)tGa>tCa p.*3547S BLCA 2 61415506 61415506 + Missense_Mutation SNP C C G TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr2:61415506C>G c.10372G>C c.(10372-10374)Gat>Cat p.D3458H BLCA 2 61415533 61415533 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 g.chr2:61415533C>G c.10345G>C c.(10345-10347)Gaa>Caa p.E3449Q BLCA 2 61416073 61416073 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr2:61416073C>T c.10005G>A c.(10003-10005)gaG>gaA p.E3335E BLCA 2 61417469 61417469 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr2:61417469C>T c.9810G>A c.(9808-9810)caG>caA p.Q3270Q BLCA 2 61430332 61430332 + Missense_Mutation SNP G G C TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr2:61430332G>C c.9451C>G c.(9451-9453)Cta>Gta p.L3151V BLCA 2 61431458 61431458 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr2:61431458C>T c.9317G>A c.(9316-9318)aGc>aAc p.S3106N BLCA 2 61431701 61431701 + Missense_Mutation SNP C C A TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr2:61431701C>A c.9190G>T c.(9190-9192)Gat>Tat p.D3064Y BLCA 2 61433904 61433904 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr2:61433904G>C c.9037C>G c.(9037-9039)Cag>Gag p.Q3013E BLCA 2 61438989 61438989 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr2:61438989C>G c.8758G>C c.(8758-8760)Gat>Cat p.D2920H BLCA 2 61439008 61439008 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr2:61439008C>T c.8739G>A c.(8737-8739)atG>atA p.M2913I BLCA 2 61441772 61441772 + Missense_Mutation SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 g.chr2:61441772C>T c.8105G>A c.(8104-8106)cGg>cAg p.R2702Q BLCA 2 61441806 61441806 + Missense_Mutation SNP G G T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr2:61441806G>T c.8071C>A c.(8071-8073)Ctt>Att p.L2691I BLCA 2 61441807 61441807 + Silent SNP G G T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr2:61441807G>T c.8070C>A c.(8068-8070)tcC>tcA p.S2690S BLCA 2 61447506 61447506 + Missense_Mutation SNP C C G TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr2:61447506C>G c.7986G>C c.(7984-7986)caG>caC p.Q2662H BLCA 2 61450200 61450200 + Missense_Mutation SNP C C T TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr2:61450200C>T c.7744G>A c.(7744-7746)Gaa>Aaa p.E2582K BLCA 2 61455988 61455988 + Missense_Mutation SNP C C T TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr2:61455988C>T c.7342G>A c.(7342-7344)Gaa>Aaa p.E2448K BLCA 2 61456758 61456758 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 g.chr2:61456758C>T c.7124G>A c.(7123-7125)cGt>cAt p.R2375H BLCA 2 61462992 61462992 + Missense_Mutation SNP C C G TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr2:61462992C>G c.7020G>C c.(7018-7020)caG>caC p.Q2340H BLCA 2 61473533 61473533 + Silent SNP T T A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr2:61473533T>A c.6474A>T c.(6472-6474)ggA>ggT p.G2158G BLCA 2 61493245 61493245 + Missense_Mutation SNP G G T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 g.chr2:61493245G>T c.5491C>A c.(5491-5493)Caa>Aaa p.Q1831K BLCA 2 61493247 61493247 + Missense_Mutation SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 g.chr2:61493247C>T c.5489G>A c.(5488-5490)cGa>cAa p.R1830Q BLCA 2 61505560 61505560 + Missense_Mutation SNP C C G TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr2:61505560C>G c.5275G>C c.(5275-5277)Gat>Cat p.D1759H BLCA 2 61508295 61508295 + Missense_Mutation SNP G G T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 g.chr2:61508295G>T c.5081C>A c.(5080-5082)tCt>tAt p.S1694Y BLCA 2 61508328 61508328 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 g.chr2:61508328G>A c.5048C>T c.(5047-5049)tCa>tTa p.S1683L BLCA 2 61515822 61515822 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:61515822C>T c.4739G>A c.(4738-4740)cGa>cAa p.R1580Q BLCA 2 61516008 61516008 + Missense_Mutation SNP T T A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr2:61516008T>A c.4553A>T c.(4552-4554)cAg>cTg p.Q1518L BLCA 2 61528088 61528088 + Missense_Mutation SNP C C T TCGA-PQ-A6FI-01A-11D-A31L-08 TCGA-PQ-A6FI-10A-01D-A31J-08 g.chr2:61528088C>T c.4126G>A c.(4126-4128)Gag>Aag p.E1376K BLCA 2 61528241 61528241 + Nonsense_Mutation SNP G G A TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr2:61528241G>A c.3973C>T c.(3973-3975)Cag>Tag p.Q1325* BLCA 2 61528530 61528530 + Missense_Mutation SNP C C G TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr2:61528530C>G c.3877G>C c.(3877-3879)Gat>Cat p.D1293H BLCA 2 61538745 61538745 + Missense_Mutation SNP C C G TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr2:61538745C>G c.3747G>C c.(3745-3747)caG>caC p.Q1249H BLCA 2 61552524 61552524 + Missense_Mutation SNP G G A TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr2:61552524G>A c.2999C>T c.(2998-3000)tCa>tTa p.S1000L BLCA 2 61566811 61566811 + Missense_Mutation SNP C C T TCGA-GV-A3QG-01A-11D-A21Z-08 TCGA-GV-A3QG-10A-01D-A21Z-08 g.chr2:61566811C>T c.2506G>A c.(2506-2508)Gta>Ata p.V836I BLCA 2 61571007 61571007 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr2:61571007G>C c.2443C>G c.(2443-2445)Cac>Gac p.H815D BLCA 2 61575066 61575066 + Nonsense_Mutation SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr2:61575066G>A c.2224C>T c.(2224-2226)Cga>Tga p.R742* BLCA 2 61575135 61575135 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr2:61575135G>C c.2155C>G c.(2155-2157)Cag>Gag p.Q719E BLCA 2 61575180 61575180 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr2:61575180C>T c.2110G>A c.(2110-2112)Gat>Aat p.D704N BLCA 2 61575281 61575281 + Missense_Mutation SNP C C T TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr2:61575281C>T c.2009G>A c.(2008-2010)gGa>gAa p.G670E BLCA 2 61575410 61575410 + Missense_Mutation SNP T T C TCGA-DK-A6B0-01A-11D-A31L-08 TCGA-DK-A6B0-10A-01D-A31J-08 g.chr2:61575410T>C c.1880A>G c.(1879-1881)gAt>gGt p.D627G BLCA 2 61575533 61575533 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr2:61575533C>G c.1757G>C c.(1756-1758)aGt>aCt p.S586T BLCA 2 61597522 61597522 + Missense_Mutation SNP C C G TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 g.chr2:61597522C>G c.1185G>C c.(1183-1185)ttG>ttC p.L395F BLCA 2 61597635 61597635 + Missense_Mutation SNP C C G TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr2:61597635C>G c.1156G>C c.(1156-1158)Gag>Cag p.E386Q BLCA 2 61607465 61607465 + Nonsense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 g.chr2:61607465G>A c.853C>T c.(853-855)Cga>Tga p.R285* BLCA 2 61607487 61607487 + Nonsense_Mutation SNP G G T TCGA-UY-A78M-01A-21D-A34U-08 TCGA-UY-A78M-10A-01D-A34X-08 g.chr2:61607487G>T c.831C>A c.(829-831)tgC>tgA p.C277* BLCA 2 61622071 61622071 + Missense_Mutation SNP G G C TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr2:61622071G>C c.670C>G c.(670-672)Ctc>Gtc p.L224V BLCA 2 61622073 61622073 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr2:61622073G>A c.668C>T c.(667-669)tCt>tTt p.S223F BLCA 2 61622079 61622079 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr2:61622079C>A c.662G>T c.(661-663)gGc>gTc p.G221V BLCA 2 61622120 61622120 + Missense_Mutation SNP C C A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 g.chr2:61622120C>A c.621G>T c.(619-621)ttG>ttT p.L207F BLCA 2 61622326 61622326 + Missense_Mutation SNP C C A TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr2:61622326C>A c.595G>T c.(595-597)Gat>Tat p.D199Y BLCA 2 61622358 61622358 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr2:61622358G>A c.563C>T c.(562-564)aCt>aTt p.T188I BLCA 2 61622361 61622361 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr2:61622361G>A c.560C>T c.(559-561)tCa>tTa p.S187L BLCA 2 61633172 61633172 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr2:61633172G>C c.223C>G c.(223-225)Caa>Gaa p.Q75E BRCA 2 61416190 61416190 + Silent SNP G G C TCGA-D8-A1XY-01A-11D-A14K-09 TCGA-D8-A1XY-10A-01D-A14K-09 g.chr2:61416190G>C c.9888C>G c.(9886-9888)ctC>ctG p.L3296L BRCA 2 61417673 61417673 + Missense_Mutation SNP T T C TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 g.chr2:61417673T>C c.9709A>G c.(9709-9711)Atg>Gtg p.M3237V BRCA 2 61430400 61430400 + Splice_Site SNP T T C TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr2:61430400T>C c.e75-2 BRCA 2 61431727 61431727 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr2:61431727T>C c.9164A>G c.(9163-9165)aAg>aGg p.K3055R BRCA 2 61441300 61441300 + Silent SNP C C T TCGA-LL-A5YP-01A-21D-A28B-09 TCGA-LL-A5YP-10A-01D-A28E-09 g.chr2:61441300C>T c.8577G>A c.(8575-8577)agG>agA p.R2859R BRCA 2 61456055 61456055 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr2:61456055T>C c.7275A>G c.(7273-7275)ttA>ttG p.L2425L BRCA 2 61456067 61456067 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr2:61456067C>T c.7263G>A c.(7261-7263)gtG>gtA p.V2421V BRCA 2 61468708 61468708 + Missense_Mutation SNP G G A TCGA-AR-A0TX-01A-11D-A099-09 TCGA-AR-A0TX-10A-01D-A099-09 g.chr2:61468708G>A c.6764C>T c.(6763-6765)tCa>tTa p.S2255L BRCA 2 61468772 61468772 + Silent SNP G G A TCGA-D8-A1X7-01A-11D-A14K-09 TCGA-D8-A1X7-10A-01D-A14K-09 g.chr2:61468772G>A c.6700C>T c.(6700-6702)Ctg>Ttg p.L2234L BRCA 2 61472411 61472411 + Missense_Mutation SNP A A T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 g.chr2:61472411A>T c.6561T>A c.(6559-6561)aaT>aaA p.N2187K BRCA 2 61473500 61473500 + Silent SNP G G A TCGA-AR-A250-01A-31D-A167-09 TCGA-AR-A250-10A-01D-A167-09 g.chr2:61473500G>A c.6507C>T c.(6505-6507)atC>atT p.I2169I BRCA 2 61475692 61475692 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr2:61475692C>T c.6348G>A c.(6346-6348)acG>acA p.T2116T BRCA 2 61484057 61484057 + Missense_Mutation SNP T T C TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 g.chr2:61484057T>C c.6077A>G c.(6076-6078)gAa>gGa p.E2026G BRCA 2 61492568 61492568 + Missense_Mutation SNP C C T TCGA-D8-A27V-01A-12D-A17D-09 TCGA-D8-A27V-10A-01D-A17D-09 g.chr2:61492568C>T c.5742G>A c.(5740-5742)atG>atA p.M1914I BRCA 2 61492665 61492665 + Nonsense_Mutation SNP C C T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 g.chr2:61492665C>T c.5645G>A c.(5644-5646)tGg>tAg p.W1882* BRCA 2 61492669 61492669 + Missense_Mutation SNP A A G TCGA-E2-A1B4-01A-11D-A12Q-09 TCGA-E2-A1B4-10A-01D-A12Q-09 g.chr2:61492669A>G c.5641T>C c.(5641-5643)Tac>Cac p.Y1881H BRCA 2 61505421 61505421 + Splice_Site SNP C C A TCGA-E2-A14R-01A-11D-A10Y-09 TCGA-E2-A14R-10A-01D-A110-09 g.chr2:61505421C>A c.e41-1 BRCA 2 61515816 61515816 + Missense_Mutation SNP G G A TCGA-AR-A256-01A-11D-A167-09 TCGA-AR-A256-10A-01D-A167-09 g.chr2:61515816G>A c.4745C>T c.(4744-4746)aCa>aTa p.T1582I BRCA 2 61515928 61515928 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:61515928C>T c.4633G>A c.(4633-4635)Gat>Aat p.D1545N BRCA 2 61515958 61515958 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:61515958C>G c.4603G>C c.(4603-4605)Gat>Cat p.D1535H BRCA 2 61520625 61520625 + Missense_Mutation SNP G G C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 g.chr2:61520625G>C c.4522C>G c.(4522-4524)Cct>Gct p.P1508A BRCA 2 61528234 61528234 + Missense_Mutation SNP G G T TCGA-A8-A06X-01A-21W-A019-09 TCGA-A8-A06X-10A-01W-A021-09 g.chr2:61528234G>T c.3980C>A c.(3979-3981)cCa>cAa p.P1327Q BRCA 2 61571086 61571087 + Frame_Shift_Ins INS - - T TCGA-B6-A0IP-01A-11D-A045-09 TCGA-B6-A0IP-10A-01W-A055-09 g.chr2:61571086_61571087insT c.2363_2364insA c.(2362-2364)aatfs p.N788fs BRCA 2 61575105 61575105 + Missense_Mutation SNP A A G TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 g.chr2:61575105A>G c.2185T>C c.(2185-2187)Ttc>Ctc p.F729L BRCA 2 61575404 61575404 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr2:61575404T>C c.1886A>G c.(1885-1887)cAt>cGt p.H629R BRCA 2 61577399 61577399 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:61577399C>A c.1503G>T c.(1501-1503)aaG>aaT p.K501N BRCA 2 61607496 61607496 + Splice_Site SNP C C A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 g.chr2:61607496C>A c.822G>T c.(820-822)agG>agT p.R274S BRCA 2 61622023 61622023 + Missense_Mutation SNP G G T TCGA-E2-A15D-01A-11D-A10Y-09 TCGA-E2-A15D-10A-01D-A110-09 g.chr2:61622023G>T c.718C>A c.(718-720)Ctt>Att p.L240I BRCA 2 61622053 61622053 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 g.chr2:61622053C>G c.688G>C c.(688-690)Gaa>Caa p.E230Q BRCA 2 61622132 61622132 + Silent SNP T T C TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 g.chr2:61622132T>C c.609A>G c.(607-609)gtA>gtG p.V203V BRCA 2 61622358 61622359 + Frame_Shift_Del DEL GT GT - TCGA-E9-A3Q9-01A-11D-A21Q-09 TCGA-E9-A3Q9-10A-01D-A21Q-09 g.chr2:61622358_61622359delGT c.562_563delAC c.(562-564)actfs p.T188fs BRCA 2 61633109 61633109 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr2:61633109C>T c.286G>A c.(286-288)Gat>Aat p.D96N CESC 2 61436045 61436045 + Missense_Mutation SNP G G T TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 g.chr2:61436045G>T c.8908C>A c.(8908-8910)Cta>Ata p.L2970I CESC 2 61493135 61493135 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr2:61493135C>T c.5601G>A c.(5599-5601)atG>atA p.M1867I CESC 2 61493167 61493167 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 g.chr2:61493167C>T c.5569G>A c.(5569-5571)Gag>Aag p.E1857K CESC 2 61505365 61505365 + Missense_Mutation SNP G G T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 g.chr2:61505365G>T c.5368C>A c.(5368-5370)Ctc>Atc p.L1790I CESC 2 61510366 61510366 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 g.chr2:61510366G>T c.4912C>A c.(4912-4914)Cat>Aat p.H1638N CESC 2 61520659 61520659 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr2:61520659C>G c.4488G>C c.(4486-4488)caG>caC p.Q1496H CESC 2 61561086 61561086 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 g.chr2:61561086C>T c.2765G>A c.(2764-2766)cGt>cAt p.R922H CESC 2 61575399 61575399 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 g.chr2:61575399G>C c.1891C>G c.(1891-1893)Cat>Gat p.H631D CESC 2 61647956 61647956 + Missense_Mutation SNP T T C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chr2:61647956T>C c.56A>G c.(55-57)gAa>gGa p.E19G CHOL 2 61484067 61484067 + Missense_Mutation SNP G G T TCGA-3X-AAV9-01A-72D-A417-09 TCGA-3X-AAV9-10A-01D-A41A-09 g.chr2:61484067G>T c.6067C>A c.(6067-6069)Caa>Aaa p.Q2023K CHOL 2 61523963 61523963 + Missense_Mutation SNP A A C TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr2:61523963A>C c.4226T>G c.(4225-4227)aTg>aGg p.M1409R COAD 2 61415543 61415543 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:61415543G>A c.10335C>T c.(10333-10335)gaC>gaT p.D3445D COAD 2 61416049 61416049 + Silent SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:61416049A>C c.10029T>G c.(10027-10029)acT>acG p.T3343T COAD 2 61416183 61416183 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:61416183G>A c.9895C>T c.(9895-9897)Ctc>Ttc p.L3299F COAD 2 61417447 61417447 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr2:61417447T>C c.9832A>G c.(9832-9834)Aac>Gac p.N3278D COAD 2 61417459 61417459 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:61417459A>G c.9820T>C c.(9820-9822)Tct>Cct p.S3274P COAD 2 61417699 61417699 + Frame_Shift_Del DEL A A - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr2:61417699delA c.9683delT c.(9682-9684)ttafs p.L3228fs COAD 2 61436054 61436054 + Missense_Mutation SNP C C T TCGA-AA-3867-01A-01W-0995-10 TCGA-AA-3867-10A-01W-0995-10 g.chr2:61436054C>T c.8899G>A c.(8899-8901)Gga>Aga p.G2967R COAD 2 61436103 61436103 + Silent SNP T T C TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr2:61436103T>C c.8850A>G c.(8848-8850)agA>agG p.R2950R COAD 2 61436103 61436103 + Silent SNP T T C TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr2:61436103T>C c.8850A>G c.(8848-8850)agA>agG p.R2950R COAD 2 61436103 61436103 + Silent SNP T T C TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr2:61436103T>C c.8850A>G c.(8848-8850)agA>agG p.R2950R COAD 2 61436104 61436104 + Missense_Mutation SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr2:61436104C>A c.8849G>T c.(8848-8850)aGa>aTa p.R2950I COAD 2 61436105 61436105 + Missense_Mutation SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr2:61436105T>C c.8848A>G c.(8848-8850)Aga>Gga p.R2950G COAD 2 61436105 61436105 + Missense_Mutation SNP T T C TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr2:61436105T>C c.8848A>G c.(8848-8850)Aga>Gga p.R2950G COAD 2 61436105 61436105 + Missense_Mutation SNP T T C TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr2:61436105T>C c.8848A>G c.(8848-8850)Aga>Gga p.R2950G COAD 2 61438976 61438976 + Missense_Mutation SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr2:61438976A>G c.8771T>C c.(8770-8772)tTc>tCc p.F2924S COAD 2 61438977 61438977 + Missense_Mutation SNP A A G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr2:61438977A>G c.8770T>C c.(8770-8772)Ttc>Ctc p.F2924L COAD 2 61438977 61438977 + Missense_Mutation SNP A A G TCGA-CM-6167-01A-11D-1650-10 TCGA-CM-6167-10A-01D-1650-10 g.chr2:61438977A>G c.8770T>C c.(8770-8772)Ttc>Ctc p.F2924L COAD 2 61438977 61438977 + Missense_Mutation SNP A A G TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr2:61438977A>G c.8770T>C c.(8770-8772)Ttc>Ctc p.F2924L COAD 2 61441511 61441511 + Missense_Mutation SNP T T G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr2:61441511T>G c.8366A>C c.(8365-8367)gAg>gCg p.E2789A COAD 2 61441606 61441606 + Missense_Mutation SNP G G C TCGA-DM-A1D7-01A-11D-A152-10 TCGA-DM-A1D7-10A-01D-A152-10 g.chr2:61441606G>C c.8271C>G c.(8269-8271)agC>agG p.S2757R COAD 2 61447487 61447487 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr2:61447487C>T c.8005G>A c.(8005-8007)Gag>Aag p.E2669K COAD 2 61450271 61450271 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:61450271C>T c.7673G>A c.(7672-7674)cGt>cAt p.R2558H COAD 2 61468720 61468720 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:61468720A>C c.6752T>G c.(6751-6753)tTt>tGt p.F2251C COAD 2 61473530 61473530 + Silent SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr2:61473530C>T c.6477G>A c.(6475-6477)acG>acA p.T2159T COAD 2 61473562 61473562 + Missense_Mutation SNP C C T TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr2:61473562C>T c.6445G>A c.(6445-6447)Gac>Aac p.D2149N COAD 2 61475760 61475760 + Missense_Mutation SNP T T A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr2:61475760T>A c.6280A>T c.(6280-6282)Aat>Tat p.N2094Y COAD 2 61484360 61484360 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:61484360G>A c.5970C>T c.(5968-5970)atC>atT p.I1990I COAD 2 61492608 61492608 + Missense_Mutation SNP G G T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:61492608G>T c.5702C>A c.(5701-5703)gCt>gAt p.A1901D COAD 2 61493208 61493208 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:61493208G>A c.5528C>T c.(5527-5529)gCc>gTc p.A1843V COAD 2 61493279 61493279 + Silent SNP A A G TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr2:61493279A>G c.5457T>C c.(5455-5457)aaT>aaC p.N1819N COAD 2 61493279 61493279 + Silent SNP A A G TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr2:61493279A>G c.5457T>C c.(5455-5457)aaT>aaC p.N1819N COAD 2 61520675 61520675 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:61520675G>A c.4472C>T c.(4471-4473)gCt>gTt p.A1491V COAD 2 61522099 61522100 + Frame_Shift_Ins INS - - T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:61522099_61522100insT c.4445_4446insA c.(4444-4446)aatfs p.N1482fs COAD 2 61522322 61522322 + Missense_Mutation SNP C C G TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr2:61522322C>G c.4358G>C c.(4357-4359)aGa>aCa p.R1453T COAD 2 61522383 61522383 + Missense_Mutation SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr2:61522383T>C c.4297A>G c.(4297-4299)Agc>Ggc p.S1433G COAD 2 61522383 61522383 + Missense_Mutation SNP T T C TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr2:61522383T>C c.4297A>G c.(4297-4299)Agc>Ggc p.S1433G COAD 2 61522383 61522383 + Missense_Mutation SNP T T C TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr2:61522383T>C c.4297A>G c.(4297-4299)Agc>Ggc p.S1433G COAD 2 61522391 61522391 + Missense_Mutation SNP T T C TCGA-AA-3673-01A-01W-0900-09 TCGA-AA-3673-10A-01W-0900-09 g.chr2:61522391T>C c.4289A>G c.(4288-4290)aAa>aGa p.K1430R COAD 2 61528148 61528148 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:61528148A>C c.4066T>G c.(4066-4068)Tta>Gta p.L1356V COAD 2 61538676 61538676 + Splice_Site SNP A A T TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr2:61538676A>T c.3816T>A c.(3814-3816)ccT>ccA p.P1272P COAD 2 61544864 61544864 + Silent SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:61544864G>A c.3207C>T c.(3205-3207)ggC>ggT p.G1069G COAD 2 61546367 61546367 + Nonsense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:61546367G>A c.3109C>T c.(3109-3111)Cga>Tga p.R1037* COAD 2 61546367 61546367 + Nonsense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:61546367G>A c.3109C>T c.(3109-3111)Cga>Tga p.R1037* COAD 2 61558470 61558470 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:61558470G>T c.2871C>A c.(2869-2871)ttC>ttA p.F957L COAD 2 61566564 61566564 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:61566564G>A c.2666C>T c.(2665-2667)tCg>tTg p.S889L COAD 2 61570980 61570980 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr2:61570980C>T c.2470G>A c.(2470-2472)Gct>Act p.A824T COAD 2 61571086 61571087 + Frame_Shift_Ins INS - - T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:61571086_61571087insT c.2363_2364insA c.(2362-2364)aatfs p.N788fs COAD 2 61575066 61575066 + Nonsense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:61575066G>A c.2224C>T c.(2224-2226)Cga>Tga p.R742* COAD 2 61575186 61575186 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:61575186C>T c.2104G>A c.(2104-2106)Gaa>Aaa p.E702K COAD 2 61575419 61575419 + Missense_Mutation SNP T T C TCGA-CK-6748-01A-11D-1835-10 TCGA-CK-6748-10A-01D-1835-10 g.chr2:61575419T>C c.1871A>G c.(1870-1872)gAt>gGt p.D624G COAD 2 61575419 61575419 + Missense_Mutation SNP T T C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr2:61575419T>C c.1871A>G c.(1870-1872)gAt>gGt p.D624G COAD 2 61575420 61575420 + Missense_Mutation SNP C C A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr2:61575420C>A c.1870G>T c.(1870-1872)Gat>Tat p.D624Y COAD 2 61575540 61575540 + Missense_Mutation SNP C C T TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr2:61575540C>T c.1750G>A c.(1750-1752)Ggg>Agg p.G584R COAD 2 61597520 61597520 + Missense_Mutation SNP T T A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:61597520T>A c.1187A>T c.(1186-1188)aAt>aTt p.N396I COAD 2 61607472 61607472 + Silent SNP C C T TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr2:61607472C>T c.846G>A c.(844-846)caG>caA p.Q282Q COAD 2 61607473 61607473 + Missense_Mutation SNP T T C TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr2:61607473T>C c.845A>G c.(844-846)cAg>cGg p.Q282R COAD 2 61607473 61607473 + Missense_Mutation SNP T T C TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr2:61607473T>C c.845A>G c.(844-846)cAg>cGg p.Q282R COAD 2 61610471 61610471 + Splice_Site SNP T T A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr2:61610471T>A c.754A>T c.(754-756)Att>Ttt p.I252F COAD 2 61622009 61622009 + Silent SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr2:61622009C>T c.732G>A c.(730-732)gcG>gcA p.A244A COAD 2 61622082 61622082 + Frame_Shift_Del DEL T T - TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr2:61622082delT c.659delA c.(658-660)aatfs p.N220fs COAD 2 61622109 61622109 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr2:61622109C>T c.632G>A c.(631-633)cGt>cAt p.R211H COAD 2 61622318 61622318 + Splice_Site SNP A A G TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr2:61622318A>G c.603T>C c.(601-603)aaT>aaC p.N201N COAD 2 61647901 61647901 + Silent SNP A A G TCGA-AZ-4681-01A-01D-1408-10 TCGA-AZ-4681-10A-01D-1408-10 g.chr2:61647901A>G c.111T>C c.(109-111)taT>taC p.Y37Y COADREAD 2 61415279 61415279 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61415279G>A c.10599C>T c.(10597-10599)gtC>gtT p.V3533V COADREAD 2 61415543 61415543 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:61415543G>A c.10335C>T c.(10333-10335)gaC>gaT p.D3445D COADREAD 2 61416049 61416049 + Silent SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:61416049A>C c.10029T>G c.(10027-10029)acT>acG p.T3343T COADREAD 2 61416183 61416183 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:61416183G>A c.9895C>T c.(9895-9897)Ctc>Ttc p.L3299F COADREAD 2 61417447 61417447 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr2:61417447T>C c.9832A>G c.(9832-9834)Aac>Gac p.N3278D COADREAD 2 61417459 61417459 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:61417459A>G c.9820T>C c.(9820-9822)Tct>Cct p.S3274P COADREAD 2 61417699 61417699 + Frame_Shift_Del DEL A A - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr2:61417699delA c.9683delT c.(9682-9684)ttafs p.L3228fs COADREAD 2 61436054 61436054 + Missense_Mutation SNP C C T TCGA-AA-3867-01A-01W-0995-10 TCGA-AA-3867-10A-01W-0995-10 g.chr2:61436054C>T c.8899G>A c.(8899-8901)Gga>Aga p.G2967R COADREAD 2 61436103 61436103 + Missense_Mutation SNP T T A TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr2:61436103T>A c.8850A>T c.(8848-8850)agA>agT p.R2950S COADREAD 2 61436103 61436103 + Silent SNP T T C TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr2:61436103T>C c.8850A>G c.(8848-8850)agA>agG p.R2950R COADREAD 2 61436103 61436103 + Silent SNP T T C TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr2:61436103T>C c.8850A>G c.(8848-8850)agA>agG p.R2950R COADREAD 2 61436103 61436103 + Silent SNP T T C TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr2:61436103T>C c.8850A>G c.(8848-8850)agA>agG p.R2950R COADREAD 2 61436103 61436103 + Silent SNP T T C TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr2:61436103T>C c.8850A>G c.(8848-8850)agA>agG p.R2950R COADREAD 2 61436104 61436104 + Missense_Mutation SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr2:61436104C>A c.8849G>T c.(8848-8850)aGa>aTa p.R2950I COADREAD 2 61436105 61436105 + Missense_Mutation SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr2:61436105T>C c.8848A>G c.(8848-8850)Aga>Gga p.R2950G COADREAD 2 61436105 61436105 + Missense_Mutation SNP T T C TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr2:61436105T>C c.8848A>G c.(8848-8850)Aga>Gga p.R2950G COADREAD 2 61436105 61436105 + Missense_Mutation SNP T T C TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr2:61436105T>C c.8848A>G c.(8848-8850)Aga>Gga p.R2950G COADREAD 2 61438976 61438976 + Missense_Mutation SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr2:61438976A>G c.8771T>C c.(8770-8772)tTc>tCc p.F2924S COADREAD 2 61438977 61438977 + Missense_Mutation SNP A A G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr2:61438977A>G c.8770T>C c.(8770-8772)Ttc>Ctc p.F2924L COADREAD 2 61438977 61438977 + Missense_Mutation SNP A A G TCGA-CM-6167-01A-11D-1650-10 TCGA-CM-6167-10A-01D-1650-10 g.chr2:61438977A>G c.8770T>C c.(8770-8772)Ttc>Ctc p.F2924L COADREAD 2 61438977 61438977 + Missense_Mutation SNP A A G TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr2:61438977A>G c.8770T>C c.(8770-8772)Ttc>Ctc p.F2924L COADREAD 2 61441511 61441511 + Missense_Mutation SNP T T G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr2:61441511T>G c.8366A>C c.(8365-8367)gAg>gCg p.E2789A COADREAD 2 61441528 61441528 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61441528G>A c.8349C>T c.(8347-8349)ttC>ttT p.F2783F COADREAD 2 61441606 61441606 + Missense_Mutation SNP G G C TCGA-DM-A1D7-01A-11D-A152-10 TCGA-DM-A1D7-10A-01D-A152-10 g.chr2:61441606G>C c.8271C>G c.(8269-8271)agC>agG p.S2757R COADREAD 2 61447487 61447487 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr2:61447487C>T c.8005G>A c.(8005-8007)Gag>Aag p.E2669K COADREAD 2 61450271 61450271 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:61450271C>T c.7673G>A c.(7672-7674)cGt>cAt p.R2558H COADREAD 2 61454211 61454211 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61454211C>T c.7586G>A c.(7585-7587)cGa>cAa p.R2529Q COADREAD 2 61468720 61468720 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:61468720A>C c.6752T>G c.(6751-6753)tTt>tGt p.F2251C COADREAD 2 61472346 61472346 + Splice_Site SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61472346G>A c.6626C>T c.(6625-6627)aCg>aTg p.T2209M COADREAD 2 61473530 61473530 + Silent SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr2:61473530C>T c.6477G>A c.(6475-6477)acG>acA p.T2159T COADREAD 2 61473562 61473562 + Missense_Mutation SNP C C T TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr2:61473562C>T c.6445G>A c.(6445-6447)Gac>Aac p.D2149N COADREAD 2 61475760 61475760 + Missense_Mutation SNP T T A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr2:61475760T>A c.6280A>T c.(6280-6282)Aat>Tat p.N2094Y COADREAD 2 61484360 61484360 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:61484360G>A c.5970C>T c.(5968-5970)atC>atT p.I1990I COADREAD 2 61484423 61484423 + Missense_Mutation SNP C C A TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr2:61484423C>A c.5907G>T c.(5905-5907)caG>caT p.Q1969H COADREAD 2 61492608 61492608 + Missense_Mutation SNP G G T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:61492608G>T c.5702C>A c.(5701-5703)gCt>gAt p.A1901D COADREAD 2 61493208 61493208 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:61493208G>A c.5528C>T c.(5527-5529)gCc>gTc p.A1843V COADREAD 2 61493279 61493279 + Silent SNP A A G TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr2:61493279A>G c.5457T>C c.(5455-5457)aaT>aaC p.N1819N COADREAD 2 61493279 61493279 + Silent SNP A A G TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr2:61493279A>G c.5457T>C c.(5455-5457)aaT>aaC p.N1819N COADREAD 2 61505526 61505526 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61505526C>T c.5309G>A c.(5308-5310)cGa>cAa p.R1770Q COADREAD 2 61520675 61520675 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:61520675G>A c.4472C>T c.(4471-4473)gCt>gTt p.A1491V COADREAD 2 61522099 61522100 + Frame_Shift_Ins INS - - T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:61522099_61522100insT c.4445_4446insA c.(4444-4446)aatfs p.N1482fs COADREAD 2 61522322 61522322 + Missense_Mutation SNP C C G TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr2:61522322C>G c.4358G>C c.(4357-4359)aGa>aCa p.R1453T COADREAD 2 61522383 61522383 + Missense_Mutation SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr2:61522383T>C c.4297A>G c.(4297-4299)Agc>Ggc p.S1433G COADREAD 2 61522383 61522383 + Missense_Mutation SNP T T C TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr2:61522383T>C c.4297A>G c.(4297-4299)Agc>Ggc p.S1433G COADREAD 2 61522383 61522383 + Missense_Mutation SNP T T C TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr2:61522383T>C c.4297A>G c.(4297-4299)Agc>Ggc p.S1433G COADREAD 2 61522383 61522383 + Missense_Mutation SNP T T C TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr2:61522383T>C c.4297A>G c.(4297-4299)Agc>Ggc p.S1433G COADREAD 2 61522391 61522391 + Missense_Mutation SNP T T C TCGA-AA-3673-01A-01W-0900-09 TCGA-AA-3673-10A-01W-0900-09 g.chr2:61522391T>C c.4289A>G c.(4288-4290)aAa>aGa p.K1430R COADREAD 2 61528148 61528148 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:61528148A>C c.4066T>G c.(4066-4068)Tta>Gta p.L1356V COADREAD 2 61538676 61538676 + Splice_Site SNP A A T TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr2:61538676A>T c.3816T>A c.(3814-3816)ccT>ccA p.P1272P COADREAD 2 61539018 61539018 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61539018T>G c.3570A>C c.(3568-3570)caA>caC p.Q1190H COADREAD 2 61544864 61544864 + Silent SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:61544864G>A c.3207C>T c.(3205-3207)ggC>ggT p.G1069G COADREAD 2 61546367 61546367 + Nonsense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:61546367G>A c.3109C>T c.(3109-3111)Cga>Tga p.R1037* COADREAD 2 61546367 61546367 + Nonsense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:61546367G>A c.3109C>T c.(3109-3111)Cga>Tga p.R1037* COADREAD 2 61546367 61546367 + Nonsense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61546367G>A c.3109C>T c.(3109-3111)Cga>Tga p.R1037* COADREAD 2 61558470 61558470 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:61558470G>T c.2871C>A c.(2869-2871)ttC>ttA p.F957L COADREAD 2 61566564 61566564 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:61566564G>A c.2666C>T c.(2665-2667)tCg>tTg p.S889L COADREAD 2 61566607 61566607 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61566607G>T c.2623C>A c.(2623-2625)Ctt>Att p.L875I COADREAD 2 61570980 61570980 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr2:61570980C>T c.2470G>A c.(2470-2472)Gct>Act p.A824T COADREAD 2 61571086 61571087 + Frame_Shift_Ins INS - - T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:61571086_61571087insT c.2363_2364insA c.(2362-2364)aatfs p.N788fs COADREAD 2 61575066 61575066 + Nonsense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:61575066G>A c.2224C>T c.(2224-2226)Cga>Tga p.R742* COADREAD 2 61575186 61575186 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:61575186C>T c.2104G>A c.(2104-2106)Gaa>Aaa p.E702K COADREAD 2 61575419 61575419 + Missense_Mutation SNP T T C TCGA-CK-6748-01A-11D-1835-10 TCGA-CK-6748-10A-01D-1835-10 g.chr2:61575419T>C c.1871A>G c.(1870-1872)gAt>gGt p.D624G COADREAD 2 61575419 61575419 + Missense_Mutation SNP T T C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr2:61575419T>C c.1871A>G c.(1870-1872)gAt>gGt p.D624G COADREAD 2 61575420 61575420 + Missense_Mutation SNP C C A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr2:61575420C>A c.1870G>T c.(1870-1872)Gat>Tat p.D624Y COADREAD 2 61575540 61575540 + Missense_Mutation SNP C C T TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr2:61575540C>T c.1750G>A c.(1750-1752)Ggg>Agg p.G584R COADREAD 2 61577702 61577702 + Splice_Site SNP C C T TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr2:61577702C>T c.e11+1 COADREAD 2 61597520 61597520 + Missense_Mutation SNP T T A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:61597520T>A c.1187A>T c.(1186-1188)aAt>aTt p.N396I COADREAD 2 61607472 61607472 + Silent SNP C C T TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr2:61607472C>T c.846G>A c.(844-846)caG>caA p.Q282Q COADREAD 2 61607473 61607473 + Missense_Mutation SNP T T C TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr2:61607473T>C c.845A>G c.(844-846)cAg>cGg p.Q282R COADREAD 2 61607473 61607473 + Missense_Mutation SNP T T C TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr2:61607473T>C c.845A>G c.(844-846)cAg>cGg p.Q282R COADREAD 2 61610471 61610471 + Splice_Site SNP T T A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr2:61610471T>A c.754A>T c.(754-756)Att>Ttt p.I252F COADREAD 2 61622009 61622009 + Silent SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr2:61622009C>T c.732G>A c.(730-732)gcG>gcA p.A244A COADREAD 2 61622082 61622082 + Frame_Shift_Del DEL T T - TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr2:61622082delT c.659delA c.(658-660)aatfs p.N220fs COADREAD 2 61622109 61622109 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr2:61622109C>T c.632G>A c.(631-633)cGt>cAt p.R211H COADREAD 2 61622318 61622318 + Splice_Site SNP A A G TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr2:61622318A>G c.603T>C c.(601-603)aaT>aaC p.N201N COADREAD 2 61647901 61647901 + Silent SNP A A G TCGA-AZ-4681-01A-01D-1408-10 TCGA-AZ-4681-10A-01D-1408-10 g.chr2:61647901A>G c.111T>C c.(109-111)taT>taC p.Y37Y DLBC 2 61433919 61433919 + Missense_Mutation SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr2:61433919T>C c.9022A>G c.(9022-9024)Aca>Gca p.T3008A DLBC 2 61450409 61450409 + Missense_Mutation SNP C C G TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr2:61450409C>G c.7618G>C c.(7618-7620)Gac>Cac p.D2540H DLBC 2 61575022 61575023 + In_Frame_Ins INS - - TGG TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr2:61575022_61575023insTGG c.2267_2268insCCA c.(2266-2268)cat>caCCAt p.756_756H>HH ESCA 2 61433937 61433937 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr2:61433937G>T c.9004C>A c.(9004-9006)Ctt>Att p.L3002I ESCA 2 61438924 61438924 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:61438924G>A c.8823C>T c.(8821-8823)tgC>tgT p.C2941C ESCA 2 61468742 61468742 + Nonsense_Mutation SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 g.chr2:61468742C>A c.6730G>T c.(6730-6732)Gaa>Taa p.E2244* ESCA 2 61472421 61472421 + Missense_Mutation SNP T T C TCGA-LN-A4MQ-01A-11D-A28B-09 TCGA-LN-A4MQ-10A-01D-A28E-09 g.chr2:61472421T>C c.6551A>G c.(6550-6552)tAt>tGt p.Y2184C ESCA 2 61493302 61493302 + Splice_Site SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr2:61493302C>T c.5434G>A c.(5434-5436)Gaa>Aaa p.E1812K ESCA 2 61510280 61510280 + Splice_Site SNP C C G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 g.chr2:61510280C>G c.4998G>C c.(4996-4998)gaG>gaC p.E1666D ESCA 2 61575959 61575959 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 g.chr2:61575959C>T c.1606G>A c.(1606-1608)Gac>Aac p.D536N ESCA 2 61577455 61577455 + Missense_Mutation SNP A A T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 g.chr2:61577455A>T c.1447T>A c.(1447-1449)Tct>Act p.S483T ESCA 2 61633028 61633028 + Missense_Mutation SNP C C G TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 g.chr2:61633028C>G c.367G>C c.(367-369)Gaa>Caa p.E123Q GBMLGG 2 61433181 61433181 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:61433181C>A c.9125G>T c.(9124-9126)aGt>aTt p.S3042I GBMLGG 2 61441453 61441453 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:61441453G>T c.8424C>A c.(8422-8424)gtC>gtA p.V2808V GBMLGG 2 61441712 61441712 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:61441712A>G c.8165T>C c.(8164-8166)gTa>gCa p.V2722A GBMLGG 2 61468710 61468710 + Silent SNP C C T TCGA-DU-5852-01A-11D-1705-08 TCGA-DU-5852-10A-01D-1705-08 g.chr2:61468710C>T c.6762G>A c.(6760-6762)tcG>tcA p.S2254S GBMLGG 2 61508367 61508367 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:61508367C>T c.5009G>A c.(5008-5010)cGt>cAt p.R1670H GBMLGG 2 61622338 61622338 + Missense_Mutation SNP C C T TCGA-S9-A89Z-01A-11D-A36O-08 TCGA-S9-A89Z-10A-01D-A367-08 g.chr2:61622338C>T c.583G>A c.(583-585)Ggg>Agg p.G195R HNSC 2 61415337 61415337 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 g.chr2:61415337A>G c.10541T>C c.(10540-10542)aTg>aCg p.M3514T HNSC 2 61415540 61415540 + Silent SNP A A G TCGA-BA-A6DG-01A-21D-A30E-08 TCGA-BA-A6DG-10A-01D-A30H-08 g.chr2:61415540A>G c.10338T>C c.(10336-10338)gaT>gaC p.D3446D HNSC 2 61415591 61415597 + Frame_Shift_Del DEL ATTTGAC ATTTGAC - TCGA-CQ-7072-01A-21D-A30E-08 TCGA-CQ-7072-10A-01D-A30H-08 g.chr2:61415591_61415597delATTTGAC c.10281_10287delGTCAAAT c.(10279-10287)atgtcaaatfs p.MSN3427fs HNSC 2 61415605 61415605 + Missense_Mutation SNP C C T TCGA-CQ-A4C6-01A-11D-A25D-08 TCGA-CQ-A4C6-10A-01D-A25E-08 g.chr2:61415605C>T c.10273G>A c.(10273-10275)Gaa>Aaa p.E3425K HNSC 2 61415830 61415830 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 g.chr2:61415830T>A c.10048A>T c.(10048-10050)Act>Tct p.T3350S HNSC 2 61430323 61430323 + Nonsense_Mutation SNP G G A TCGA-P3-A5QE-01A-11D-A28R-08 TCGA-P3-A5QE-10A-01D-A28U-08 g.chr2:61430323G>A c.9460C>T c.(9460-9462)Cga>Tga p.R3154* HNSC 2 61431396 61431396 + Missense_Mutation SNP T T C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 g.chr2:61431396T>C c.9379A>G c.(9379-9381)Agt>Ggt p.S3127G HNSC 2 61431476 61431476 + Missense_Mutation SNP T T C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 g.chr2:61431476T>C c.9299A>G c.(9298-9300)aAg>aGg p.K3100R HNSC 2 61433915 61433915 + Missense_Mutation SNP C C T TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 g.chr2:61433915C>T c.9026G>A c.(9025-9027)cGc>cAc p.R3009H HNSC 2 61436093 61436093 + Missense_Mutation SNP C C G TCGA-HD-A4C1-01A-11D-A24D-08 TCGA-HD-A4C1-10A-02D-A24F-08 g.chr2:61436093C>G c.8860G>C c.(8860-8862)Gaa>Caa p.E2954Q HNSC 2 61441266 61441266 + Missense_Mutation SNP G G C TCGA-BA-A6DI-01A-11D-A30E-08 TCGA-BA-A6DI-10A-01D-A30H-08 g.chr2:61441266G>C c.8611C>G c.(8611-8613)Caa>Gaa p.Q2871E HNSC 2 61441396 61441396 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr2:61441396C>G c.8481G>C c.(8479-8481)aaG>aaC p.K2827N HNSC 2 61447483 61447483 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 g.chr2:61447483C>T c.8009G>A c.(8008-8010)cGg>cAg p.R2670Q HNSC 2 61456687 61456687 + Missense_Mutation SNP C C G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 g.chr2:61456687C>G c.7195G>C c.(7195-7197)Gat>Cat p.D2399H HNSC 2 61483552 61483552 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 g.chr2:61483552G>C c.6188C>G c.(6187-6189)tCt>tGt p.S2063C HNSC 2 61492562 61492562 + Silent SNP A A T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 g.chr2:61492562A>T c.5748T>A c.(5746-5748)ccT>ccA p.P1916P HNSC 2 61492647 61492647 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr2:61492647C>T c.5663G>A c.(5662-5664)cGt>cAt p.R1888H HNSC 2 61508292 61508292 + Missense_Mutation SNP A A G TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr2:61508292A>G c.5084T>C c.(5083-5085)tTt>tCt p.F1695S HNSC 2 61508321 61508321 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr2:61508321C>T c.5055G>A c.(5053-5055)ctG>ctA p.L1685L HNSC 2 61510333 61510333 + Missense_Mutation SNP C C A TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 g.chr2:61510333C>A c.4945G>T c.(4945-4947)Gat>Tat p.D1649Y HNSC 2 61515972 61515973 + Frame_Shift_Ins INS - - A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 g.chr2:61515972_61515973insA c.4588_4589insT c.(4588-4590)tgcfs p.C1530fs HNSC 2 61524018 61524018 + Missense_Mutation SNP A A T TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr2:61524018A>T c.4171T>A c.(4171-4173)Tct>Act p.S1391T HNSC 2 61546322 61546322 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr2:61546322G>C c.3154C>G c.(3154-3156)Ctt>Gtt p.L1052V HNSC 2 61546400 61546400 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 g.chr2:61546400C>G c.3076G>C c.(3076-3078)Gat>Cat p.D1026H HNSC 2 61566505 61566505 + Missense_Mutation SNP C C G TCGA-CQ-7064-01A-11D-2394-08 TCGA-CQ-7064-10A-01D-2394-08 g.chr2:61566505C>G c.2725G>C c.(2725-2727)Gaa>Caa p.E909Q HNSC 2 61566564 61566564 + Nonsense_Mutation SNP G G T TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr2:61566564G>T c.2666C>A c.(2665-2667)tCg>tAg p.S889* HNSC 2 61566804 61566804 + Missense_Mutation SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 g.chr2:61566804T>C c.2513A>G c.(2512-2514)cAt>cGt p.H838R HNSC 2 61570972 61570972 + Silent SNP A A G TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 g.chr2:61570972A>G c.2478T>C c.(2476-2478)atT>atC p.I826I HNSC 2 61575227 61575227 + Missense_Mutation SNP C C A TCGA-UF-A7JD-01A-11D-A34J-08 TCGA-UF-A7JD-10A-01D-A34M-08 g.chr2:61575227C>A c.2063G>T c.(2062-2064)cGa>cTa p.R688L HNSC 2 61575592 61575592 + Silent SNP G G A TCGA-H7-A6C5-01A-11D-A30E-08 TCGA-H7-A6C5-10A-01D-A30H-08 g.chr2:61575592G>A c.1698C>T c.(1696-1698)gaC>gaT p.D566D HNSC 2 61577807 61577807 + Missense_Mutation SNP T T C TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr2:61577807T>C c.1273A>G c.(1273-1275)Ata>Gta p.I425V HNSC 2 61597495 61597495 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 g.chr2:61597495C>T c.1212G>A c.(1210-1212)ctG>ctA p.L404L HNSC 2 61597522 61597522 + Silent SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 g.chr2:61597522C>T c.1185G>A c.(1183-1185)ttG>ttA p.L395L HNSC 2 61597672 61597672 + Silent SNP A A G TCGA-CN-5361-01A-01D-1434-08 TCGA-CN-5361-10A-01D-1434-08 g.chr2:61597672A>G c.1119T>C c.(1117-1119)aaT>aaC p.N373N HNSC 2 61632948 61632948 + Missense_Mutation SNP C C G TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr2:61632948C>G c.447G>C c.(445-447)tgG>tgC p.W149C HNSC 2 61633028 61633028 + Missense_Mutation SNP C C G TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr2:61633028C>G c.367G>C c.(367-369)Gaa>Caa p.E123Q KICH 2 61415632 61415632 + Silent SNP G G T TCGA-KL-8337-01A-11D-2310-10 TCGA-KL-8337-11A-01D-2310-10 g.chr2:61415632G>T c.10246C>A c.(10246-10248)Cga>Aga p.R3416R KIPAN 2 61415632 61415632 + Silent SNP G G T TCGA-KL-8337-01A-11D-2310-10 TCGA-KL-8337-11A-01D-2310-10 g.chr2:61415632G>T c.10246C>A c.(10246-10248)Cga>Aga p.R3416R KIPAN 2 61415653 61415653 + Missense_Mutation SNP T T A TCGA-2Z-A9JL-01A-11D-A42J-10 TCGA-2Z-A9JL-10A-01D-A42M-10 g.chr2:61415653T>A c.10225A>T c.(10225-10227)Aat>Tat p.N3409Y KIPAN 2 61417437 61417437 + Missense_Mutation SNP T T C TCGA-BP-4807-01A-01D-1373-10 TCGA-BP-4807-11A-01D-1373-10 g.chr2:61417437T>C c.9842A>G c.(9841-9843)gAa>gGa p.E3281G KIPAN 2 61417473 61417473 + Missense_Mutation SNP T T G TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr2:61417473T>G c.9806A>C c.(9805-9807)tAt>tCt p.Y3269S KIPAN 2 61431456 61431456 + Missense_Mutation SNP T T C TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr2:61431456T>C c.9319A>G c.(9319-9321)Aat>Gat p.N3107D KIPAN 2 61433163 61433164 + Missense_Mutation DNP TT TT CA TCGA-5P-A9JU-01A-11D-A42J-10 TCGA-5P-A9JU-10A-01D-A42M-10 g.chr2:61433163_61433164TT>CA c.9142_9143AA>TG c.(9142-9144)AAt>TGt p.N3048C KIPAN 2 61441707 61441707 + Silent SNP G G A TCGA-B0-4718-01A-01D-1361-10 TCGA-B0-4718-11A-01D-1361-10 g.chr2:61441707G>A c.8170C>T c.(8170-8172)Cta>Tta p.L2724L KIPAN 2 61450209 61450209 + Missense_Mutation SNP G G C TCGA-BQ-7061-01A-11D-1961-08 TCGA-BQ-7061-11A-01D-1961-08 g.chr2:61450209G>C c.7735C>G c.(7735-7737)Cga>Gga p.R2579G KIPAN 2 61450407 61450407 + Missense_Mutation SNP G G T TCGA-CW-5581-01A-02D-1534-10 TCGA-CW-5581-11A-01D-1535-10 g.chr2:61450407G>T c.7620C>A c.(7618-7620)gaC>gaA p.D2540E KIPAN 2 61483604 61483604 + Missense_Mutation SNP C C G TCGA-WN-A9G9-01A-12D-A36X-10 TCGA-WN-A9G9-10A-01D-A370-10 g.chr2:61483604C>G c.6136G>C c.(6136-6138)Gat>Cat p.D2046H KIPAN 2 61493234 61493234 + Silent SNP C C T TCGA-DW-7840-01A-11D-2136-08 TCGA-DW-7840-10A-01D-2136-08 g.chr2:61493234C>T c.5502G>A c.(5500-5502)aaG>aaA p.K1834K KIPAN 2 61505306 61505306 + Frame_Shift_Del DEL T T - TCGA-BQ-5885-01A-11D-1589-08 TCGA-BQ-5885-11A-01D-1589-08 g.chr2:61505306delT c.5427delA c.(5425-5427)gaafs p.E1809fs KIPAN 2 61522139 61522139 + Missense_Mutation SNP G G A TCGA-B8-5549-01A-01D-1534-10 TCGA-B8-5549-10A-01D-1535-10 g.chr2:61522139G>A c.4406C>T c.(4405-4407)tCa>tTa p.S1469L KIPAN 2 61522309 61522309 + Silent SNP C C T TCGA-G7-A8LD-01A-11D-A35Z-10 TCGA-G7-A8LD-10A-01D-A35Z-10 g.chr2:61522309C>T c.4371G>A c.(4369-4371)gaG>gaA p.E1457E KIPAN 2 61566797 61566797 + Silent SNP A A G TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr2:61566797A>G c.2520T>C c.(2518-2520)caT>caC p.H840H KIPAN 2 61571006 61571006 + Missense_Mutation SNP T T C TCGA-BP-4988-01A-01D-1462-08 TCGA-BP-4988-11A-01D-1462-08 g.chr2:61571006T>C c.2444A>G c.(2443-2445)cAc>cGc p.H815R KIPAN 2 61571101 61571101 + Silent SNP T T C TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr2:61571101T>C c.2349A>G c.(2347-2349)gcA>gcG p.A783A KIPAN 2 61575328 61575328 + Silent SNP G G A TCGA-CW-5585-01A-01D-1534-10 TCGA-CW-5585-11A-01D-1535-10 g.chr2:61575328G>A c.1962C>T c.(1960-1962)tgC>tgT p.C654C KIRC 2 61417437 61417437 + Missense_Mutation SNP T T C TCGA-BP-4807-01A-01D-1373-10 TCGA-BP-4807-11A-01D-1373-10 g.chr2:61417437T>C c.9842A>G c.(9841-9843)gAa>gGa p.E3281G KIRC 2 61431456 61431456 + Missense_Mutation SNP T T C TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr2:61431456T>C c.9319A>G c.(9319-9321)Aat>Gat p.N3107D KIRC 2 61441707 61441707 + Silent SNP G G A TCGA-B0-4718-01A-01D-1361-10 TCGA-B0-4718-11A-01D-1361-10 g.chr2:61441707G>A c.8170C>T c.(8170-8172)Cta>Tta p.L2724L KIRC 2 61450407 61450407 + Missense_Mutation SNP G G T TCGA-CW-5581-01A-02D-1534-10 TCGA-CW-5581-11A-01D-1535-10 g.chr2:61450407G>T c.7620C>A c.(7618-7620)gaC>gaA p.D2540E KIRC 2 61522139 61522139 + Missense_Mutation SNP G G A TCGA-B8-5549-01A-01D-1534-10 TCGA-B8-5549-10A-01D-1535-10 g.chr2:61522139G>A c.4406C>T c.(4405-4407)tCa>tTa p.S1469L KIRC 2 61566797 61566797 + Silent SNP A A G TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr2:61566797A>G c.2520T>C c.(2518-2520)caT>caC p.H840H KIRC 2 61571006 61571006 + Missense_Mutation SNP T T C TCGA-BP-4988-01A-01D-1462-08 TCGA-BP-4988-11A-01D-1462-08 g.chr2:61571006T>C c.2444A>G c.(2443-2445)cAc>cGc p.H815R KIRC 2 61571101 61571101 + Silent SNP T T C TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr2:61571101T>C c.2349A>G c.(2347-2349)gcA>gcG p.A783A KIRC 2 61575328 61575328 + Silent SNP G G A TCGA-CW-5585-01A-01D-1534-10 TCGA-CW-5585-11A-01D-1535-10 g.chr2:61575328G>A c.1962C>T c.(1960-1962)tgC>tgT p.C654C KIRP 2 61415653 61415653 + Missense_Mutation SNP T T A TCGA-2Z-A9JL-01A-11D-A42J-10 TCGA-2Z-A9JL-10A-01D-A42M-10 g.chr2:61415653T>A c.10225A>T c.(10225-10227)Aat>Tat p.N3409Y KIRP 2 61417473 61417473 + Missense_Mutation SNP T T G TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr2:61417473T>G c.9806A>C c.(9805-9807)tAt>tCt p.Y3269S KIRP 2 61433163 61433164 + Missense_Mutation DNP TT TT CA TCGA-5P-A9JU-01A-11D-A42J-10 TCGA-5P-A9JU-10A-01D-A42M-10 g.chr2:61433163_61433164TT>CA c.9142_9143AA>TG c.(9142-9144)AAt>TGt p.N3048C KIRP 2 61450209 61450209 + Missense_Mutation SNP G G C TCGA-BQ-7061-01A-11D-1961-08 TCGA-BQ-7061-11A-01D-1961-08 g.chr2:61450209G>C c.7735C>G c.(7735-7737)Cga>Gga p.R2579G KIRP 2 61483604 61483604 + Missense_Mutation SNP C C G TCGA-WN-A9G9-01A-12D-A36X-10 TCGA-WN-A9G9-10A-01D-A370-10 g.chr2:61483604C>G c.6136G>C c.(6136-6138)Gat>Cat p.D2046H KIRP 2 61493234 61493234 + Silent SNP C C T TCGA-DW-7840-01A-11D-2136-08 TCGA-DW-7840-10A-01D-2136-08 g.chr2:61493234C>T c.5502G>A c.(5500-5502)aaG>aaA p.K1834K KIRP 2 61505306 61505306 + Frame_Shift_Del DEL T T - TCGA-BQ-5885-01A-11D-1589-08 TCGA-BQ-5885-11A-01D-1589-08 g.chr2:61505306delT c.5427delA c.(5425-5427)gaafs p.E1809fs KIRP 2 61522309 61522309 + Silent SNP C C T TCGA-G7-A8LD-01A-11D-A35Z-10 TCGA-G7-A8LD-10A-01D-A35Z-10 g.chr2:61522309C>T c.4371G>A c.(4369-4371)gaG>gaA p.E1457E LAML 2 61447538 61447538 + Nonsense_Mutation SNP G G A TCGA-AB-2826-03B-01W-0728-08 TCGA-AB-2826-11B-01W-0728-08 g.chr2:61447538G>A c.7954C>T c.(7954-7956)Cga>Tga p.R2652* LGG 2 61433181 61433181 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:61433181C>A c.9125G>T c.(9124-9126)aGt>aTt p.S3042I LGG 2 61441453 61441453 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:61441453G>T c.8424C>A c.(8422-8424)gtC>gtA p.V2808V LGG 2 61441712 61441712 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:61441712A>G c.8165T>C c.(8164-8166)gTa>gCa p.V2722A LGG 2 61468710 61468710 + Silent SNP C C T TCGA-DU-5852-01A-11D-1705-08 TCGA-DU-5852-10A-01D-1705-08 g.chr2:61468710C>T c.6762G>A c.(6760-6762)tcG>tcA p.S2254S LGG 2 61508367 61508367 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:61508367C>T c.5009G>A c.(5008-5010)cGt>cAt p.R1670H LGG 2 61622338 61622338 + Missense_Mutation SNP C C T TCGA-S9-A89Z-01A-11D-A36O-08 TCGA-S9-A89Z-10A-01D-A367-08 g.chr2:61622338C>T c.583G>A c.(583-585)Ggg>Agg p.G195R LIHC 2 61415443 61415443 + Missense_Mutation SNP C C G TCGA-BC-A10T-01A-11D-A12Z-10 TCGA-BC-A10T-11A-11D-A12Z-10 g.chr2:61415443C>G c.10435G>C c.(10435-10437)Gac>Cac p.D3479H LIHC 2 61430400 61430400 + Splice_Site SNP T T G TCGA-ED-A66Y-01A-11D-A30V-10 TCGA-ED-A66Y-10A-01D-A30V-10 g.chr2:61430400T>G c.e75-2 LIHC 2 61441503 61441503 + Missense_Mutation SNP T T C TCGA-DD-AAEA-01A-11D-A40R-10 TCGA-DD-AAEA-10A-01D-A40U-10 g.chr2:61441503T>C c.8374A>G c.(8374-8376)Ata>Gta p.I2792V LIHC 2 61441759 61441760 + In_Frame_Ins INS - - GACCTTGTT TCGA-NI-A4U2-01A-11D-A28X-10 TCGA-NI-A4U2-10A-01D-A28X-10 g.chr2:61441759_61441760insGACCTTGTT c.8117_8118insAACAAGGTC c.(8116-8118)tct>tcAACAAGGTCt p.2706_2706S>STRS LIHC 2 61505325 61505325 + Missense_Mutation SNP G G T TCGA-FV-A496-01A-11D-A25V-10 TCGA-FV-A496-10A-01D-A25V-10 g.chr2:61505325G>T c.5408C>A c.(5407-5409)cCc>cAc p.P1803H LIHC 2 61505341 61505341 + Missense_Mutation SNP C C T TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr2:61505341C>T c.5392G>A c.(5392-5394)Gtt>Att p.V1798I LIHC 2 61507429 61507429 + Frame_Shift_Del DEL A A - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr2:61507429delA c.5206delT c.(5206-5208)tggfs p.W1736fs LIHC 2 61520656 61520656 + Silent SNP T T C TCGA-G3-A7M5-01A-11D-A33Q-10 TCGA-G3-A7M5-10A-01D-A33Q-10 g.chr2:61520656T>C c.4491A>G c.(4489-4491)ttA>ttG p.L1497L LIHC 2 61538926 61538926 + Frame_Shift_Del DEL G G - TCGA-DD-AAD6-01A-11D-A40R-10 TCGA-DD-AAD6-10A-01D-A40U-10 g.chr2:61538926delG c.3662delC c.(3661-3663)cctfs p.P1221fs LIHC 2 61542016 61542016 + Missense_Mutation SNP T T C TCGA-DD-AADG-01A-11D-A40R-10 TCGA-DD-AADG-10A-01D-A40U-10 g.chr2:61542016T>C c.3376A>G c.(3376-3378)Att>Gtt p.I1126V LIHC 2 61571021 61571021 + Missense_Mutation SNP G G T TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr2:61571021G>T c.2429C>A c.(2428-2430)gCg>gAg p.A810E LIHC 2 61571112 61571112 + Frame_Shift_Del DEL G G - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr2:61571112delG c.2338delC c.(2338-2340)cagfs p.Q780fs LIHC 2 61597513 61597514 + Frame_Shift_Ins INS - - A TCGA-2Y-A9H4-01A-11D-A382-10 TCGA-2Y-A9H4-10A-01D-A385-10 g.chr2:61597513_61597514insA c.1193_1194insT c.(1192-1194)ttgfs p.L398fs LIHC 2 61607465 61607465 + Nonsense_Mutation SNP G G A TCGA-RC-A6M5-01A-11D-A32G-10 TCGA-RC-A6M5-10A-01D-A32G-10 g.chr2:61607465G>A c.853C>T c.(853-855)Cga>Tga p.R285* LIHC 2 61632843 61632843 + Splice_Site SNP C C T TCGA-DD-AAEI-01A-11D-A40R-10 TCGA-DD-AAEI-10A-01D-A40U-10 g.chr2:61632843C>T c.552G>A c.(550-552)gaG>gaA p.E184E LIHC 2 61633160 61633160 + Missense_Mutation SNP C C A TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr2:61633160C>A c.235G>T c.(235-237)Gac>Tac p.D79Y LUAD 2 61415551 61415551 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr2:61415551T>C c.10327A>G c.(10327-10329)Aga>Gga p.R3443G LUAD 2 61416060 61416060 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chr2:61416060C>G c.10018G>C c.(10018-10020)Gaa>Caa p.E3340Q LUAD 2 61431428 61431428 + Missense_Mutation SNP T T C TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr2:61431428T>C c.9347A>G c.(9346-9348)aAt>aGt p.N3116S LUAD 2 61433248 61433248 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chr2:61433248C>A c.9058G>T c.(9058-9060)Gca>Tca p.A3020S LUAD 2 61438969 61438969 + Missense_Mutation SNP T T A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr2:61438969T>A c.8778A>T c.(8776-8778)aaA>aaT p.K2926N LUAD 2 61441511 61441511 + Missense_Mutation SNP T T A TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr2:61441511T>A c.8366A>T c.(8365-8367)gAg>gTg p.E2789V LUAD 2 61448649 61448649 + Silent SNP C C T TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr2:61448649C>T c.7887G>A c.(7885-7887)caG>caA p.Q2629Q LUAD 2 61456684 61456684 + Splice_Site SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr2:61456684C>G c.7198G>C c.(7198-7200)Ggg>Cgg p.G2400R LUAD 2 61473588 61473588 + Nonsense_Mutation SNP G G T TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr2:61473588G>T c.6419C>A c.(6418-6420)tCa>tAa p.S2140* LUAD 2 61484020 61484020 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 g.chr2:61484020C>T c.6114G>A c.(6112-6114)atG>atA p.M2038I LUAD 2 61484357 61484357 + Missense_Mutation SNP T T A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chr2:61484357T>A c.5973A>T c.(5971-5973)gaA>gaT p.E1991D LUAD 2 61505300 61505300 + Splice_Site SNP C C G TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr2:61505300C>G c.5433G>C c.(5431-5433)caG>caC p.Q1811H LUAD 2 61505560 61505560 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr2:61505560C>A c.5275G>T c.(5275-5277)Gat>Tat p.D1759Y LUAD 2 61508294 61508294 + Silent SNP A A C TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr2:61508294A>C c.5082T>G c.(5080-5082)tcT>tcG p.S1694S LUAD 2 61516014 61516014 + Splice_Site SNP T T G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chr2:61516014T>G c.e34-2 LUAD 2 61522325 61522325 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr2:61522325C>G c.4355G>C c.(4354-4356)aGa>aCa p.R1452T LUAD 2 61542063 61542063 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr2:61542063G>A c.3329C>T c.(3328-3330)tCt>tTt p.S1110F LUAD 2 61566728 61566728 + Missense_Mutation SNP C C G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chr2:61566728C>G c.2589G>C c.(2587-2589)ttG>ttC p.L863F LUAD 2 61571046 61571046 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr2:61571046C>A c.2404G>T c.(2404-2406)Gag>Tag p.E802* LUAD 2 61575023 61575023 + Missense_Mutation SNP T T C TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr2:61575023T>C c.2267A>G c.(2266-2268)cAt>cGt p.H756R LUAD 2 61575121 61575121 + Missense_Mutation SNP G G C TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr2:61575121G>C c.2169C>G c.(2167-2169)atC>atG p.I723M LUAD 2 61575333 61575333 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr2:61575333T>C c.1957A>G c.(1957-1959)Att>Gtt p.I653V LUAD 2 61577705 61577705 + Missense_Mutation SNP G G T TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr2:61577705G>T c.1375C>A c.(1375-1377)Cag>Aag p.Q459K LUAD 2 61577741 61577741 + Silent SNP G G A TCGA-17-Z050-01A-01W-0747-08 TCGA-17-Z050-11A-01W-0747-08 g.chr2:61577741G>A c.1339C>T c.(1339-1341)Ctg>Ttg p.L447L LUAD 2 61605508 61605508 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr2:61605508C>G c.1066G>C c.(1066-1068)Gac>Cac p.D356H LUAD 2 61622131 61622131 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chr2:61622131C>G c.610G>C c.(610-612)Gaa>Caa p.E204Q LUAD 2 61622137 61622137 + Splice_Site SNP C C G TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr2:61622137C>G c.604G>C c.(604-606)Gat>Cat p.D202H LUAD 2 61632973 61632974 + Frame_Shift_Del DEL TT TT - TCGA-95-7562-01A-11D-2238-08 TCGA-95-7562-10B-01D-2238-08 g.chr2:61632973_61632974delTT c.421_422delAA c.(421-423)aagfs p.K141fs LUAD 2 61632995 61632995 + Missense_Mutation SNP G G C TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr2:61632995G>C c.400C>G c.(400-402)Ctg>Gtg p.L134V LUAD 2 61633065 61633068 + Frame_Shift_Del DEL CTCT CTCT - TCGA-44-3398-01A-01D-1105-08 TCGA-44-3398-10A-01D-1105-08 g.chr2:61633065_61633068delCTCT c.327_330delAGAG c.(325-330)agagagfs p.RE109fs LUSC 2 61415429 61415429 + Missense_Mutation SNP C C G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chr2:61415429C>G c.10449G>C c.(10447-10449)ttG>ttC p.L3483F LUSC 2 61417456 61417456 + Missense_Mutation SNP C C G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chr2:61417456C>G c.9823G>C c.(9823-9825)Gat>Cat p.D3275H LUSC 2 61417463 61417463 + Silent SNP T T A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr2:61417463T>A c.9816A>T c.(9814-9816)ctA>ctT p.L3272L LUSC 2 61439041 61439041 + Silent SNP C C A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr2:61439041C>A c.8706G>T c.(8704-8706)ctG>ctT p.L2902L LUSC 2 61441365 61441365 + Missense_Mutation SNP G G T TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 g.chr2:61441365G>T c.8512C>A c.(8512-8514)Cat>Aat p.H2838N LUSC 2 61441575 61441575 + Missense_Mutation SNP C C G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 g.chr2:61441575C>G c.8302G>C c.(8302-8304)Gag>Cag p.E2768Q LUSC 2 61459593 61459593 + Silent SNP C C T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr2:61459593C>T c.7107G>A c.(7105-7107)gtG>gtA p.V2369V LUSC 2 61459646 61459646 + Missense_Mutation SNP C C G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr2:61459646C>G c.7054G>C c.(7054-7056)Gat>Cat p.D2352H LUSC 2 61463362 61463362 + Missense_Mutation SNP C C A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 g.chr2:61463362C>A c.6852G>T c.(6850-6852)tgG>tgT p.W2284C LUSC 2 61463468 61463468 + Silent SNP T T C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr2:61463468T>C c.6834A>G c.(6832-6834)acA>acG p.T2278T LUSC 2 61475683 61475683 + Silent SNP T T A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr2:61475683T>A c.6357A>T c.(6355-6357)acA>acT p.T2119T LUSC 2 61510333 61510333 + Missense_Mutation SNP C C G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 g.chr2:61510333C>G c.4945G>C c.(4945-4947)Gat>Cat p.D1649H LUSC 2 61512052 61512052 + Missense_Mutation SNP C C T TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr2:61512052C>T c.4790G>A c.(4789-4791)cGa>cAa p.R1597Q LUSC 2 61522091 61522091 + Missense_Mutation SNP C C A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr2:61522091C>A c.4454G>T c.(4453-4455)aGt>aTt p.S1485I LUSC 2 61524017 61524017 + Missense_Mutation SNP G G C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chr2:61524017G>C c.4172C>G c.(4171-4173)tCt>tGt p.S1391C LUSC 2 61528293 61528293 + Missense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr2:61528293C>A c.3921G>T c.(3919-3921)atG>atT p.M1307I LUSC 2 61546343 61546343 + Missense_Mutation SNP C C A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr2:61546343C>A c.3133G>T c.(3133-3135)Ggt>Tgt p.G1045C LUSC 2 61558465 61558465 + Missense_Mutation SNP T T C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr2:61558465T>C c.2876A>G c.(2875-2877)gAt>gGt p.D959G LUSC 2 61561087 61561087 + Missense_Mutation SNP G G A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr2:61561087G>A c.2764C>T c.(2764-2766)Cgt>Tgt p.R922C LUSC 2 61575411 61575411 + Missense_Mutation SNP C C T TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 g.chr2:61575411C>T c.1879G>A c.(1879-1881)Gat>Aat p.D627N LUSC 2 61576402 61576402 + Missense_Mutation SNP C C G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 g.chr2:61576402C>G c.1526G>C c.(1525-1527)aGa>aCa p.R509T LUSC 2 61597467 61597467 + Missense_Mutation SNP C C A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr2:61597467C>A c.1240G>T c.(1240-1242)Gct>Tct p.A414S LUSC 2 61607309 61607309 + Missense_Mutation SNP T T A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr2:61607309T>A c.1009A>T c.(1009-1011)Ata>Tta p.I337L LUSC 2 61622326 61622326 + Missense_Mutation SNP C C T TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr2:61622326C>T c.595G>A c.(595-597)Gat>Aat p.D199N LUSC 2 61633028 61633028 + Missense_Mutation SNP C C T TCGA-51-4079-01A-01D-1458-08 TCGA-51-4079-11A-01D-1458-08 g.chr2:61633028C>T c.367G>A c.(367-369)Gaa>Aaa p.E123K OV 2 61415362 61415362 + Missense_Mutation SNP G G A TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 g.chr2:61415362G>A c.10516C>T c.(10516-10518)Cat>Tat p.H3506Y OV 2 61436105 61436105 + Missense_Mutation SNP T T C TCGA-24-1431-01A-01D-0472-08 TCGA-24-1431-10A-01D-0472-08 g.chr2:61436105T>C c.8848A>G c.(8848-8850)Aga>Gga p.R2950G OV 2 61438975 61438975 + Missense_Mutation SNP G G C TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 g.chr2:61438975G>C c.8772C>G c.(8770-8772)ttC>ttG p.F2924L OV 2 61475758 61475758 + Silent SNP A A G TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 g.chr2:61475758A>G c.6282T>C c.(6280-6282)aaT>aaC p.N2094N OV 2 61493280 61493280 + Missense_Mutation SNP T T A TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 g.chr2:61493280T>A c.5456A>T c.(5455-5457)aAt>aTt p.N1819I OV 2 61522381 61522381 + Silent SNP G G A TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 g.chr2:61522381G>A c.4299C>T c.(4297-4299)agC>agT p.S1433S OV 2 61538678 61538678 + Missense_Mutation SNP G G A TCGA-25-1313-01A-01W-0492-08 TCGA-25-1313-10A-01W-0492-08 g.chr2:61538678G>A c.3814C>T c.(3814-3816)Cct>Tct p.P1272S OV 2 61575538 61575538 + Silent SNP C C A TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 g.chr2:61575538C>A c.1752G>T c.(1750-1752)ggG>ggT p.G584G OV 2 61607472 61607472 + Missense_Mutation SNP C C G TCGA-13-0883-01A-02W-0420-08 TCGA-13-0883-10A-01D-0399-08 g.chr2:61607472C>G c.846G>C c.(844-846)caG>caC p.Q282H OV 2 61633157 61633157 + Nonsense_Mutation SNP G G A TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 g.chr2:61633157G>A c.238C>T c.(238-240)Cag>Tag p.Q80* PAAD 2 61447488 61447488 + Frame_Shift_Del DEL G G - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 g.chr2:61447488delG c.8004delC c.(8002-8004)gtcfs p.V2668fs PAAD 2 61448662 61448662 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 g.chr2:61448662G>A c.7874C>T c.(7873-7875)tCt>tTt p.S2625F PAAD 2 61575613 61575613 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:61575613T>G c.1677A>C c.(1675-1677)gaA>gaC p.E559D PCPG 2 61486850 61486850 + Missense_Mutation SNP A A G TCGA-QT-A5XN-01A-11D-A35D-08 TCGA-QT-A5XN-10A-01D-A35B-08 g.chr2:61486850A>G c.5840T>C c.(5839-5841)tTa>tCa p.L1947S PCPG 2 61544839 61544839 + Missense_Mutation SNP T T A TCGA-QR-A6H4-01A-11D-A35D-08 TCGA-QR-A6H4-10A-01D-A35B-08 g.chr2:61544839T>A c.3232A>T c.(3232-3234)Aac>Tac p.N1078Y PRAD 2 61456734 61456734 + Missense_Mutation SNP C C G TCGA-YL-A8HO-01A-11D-A364-08 TCGA-YL-A8HO-10A-01D-A362-08 g.chr2:61456734C>G c.7148G>C c.(7147-7149)aGg>aCg p.R2383T PRAD 2 61463362 61463362 + Nonsense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:61463362C>T c.6852G>A c.(6850-6852)tgG>tgA p.W2284* PRAD 2 61492578 61492580 + In_Frame_Del DEL TGC TGC - TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 g.chr2:61492578_61492580delTGC c.5730_5732delGCA c.(5728-5733)cagcaa>caa p.1910_1911QQ>Q PRAD 2 61575066 61575066 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:61575066G>A c.2224C>T c.(2224-2226)Cga>Tga p.R742* READ 2 61415279 61415279 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61415279G>A c.10599C>T c.(10597-10599)gtC>gtT p.V3533V READ 2 61436103 61436103 + Missense_Mutation SNP T T A TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr2:61436103T>A c.8850A>T c.(8848-8850)agA>agT p.R2950S READ 2 61436103 61436103 + Silent SNP T T C TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr2:61436103T>C c.8850A>G c.(8848-8850)agA>agG p.R2950R READ 2 61441528 61441528 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61441528G>A c.8349C>T c.(8347-8349)ttC>ttT p.F2783F READ 2 61454211 61454211 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61454211C>T c.7586G>A c.(7585-7587)cGa>cAa p.R2529Q READ 2 61472346 61472346 + Splice_Site SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61472346G>A c.6626C>T c.(6625-6627)aCg>aTg p.T2209M READ 2 61484423 61484423 + Missense_Mutation SNP C C A TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr2:61484423C>A c.5907G>T c.(5905-5907)caG>caT p.Q1969H READ 2 61505526 61505526 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61505526C>T c.5309G>A c.(5308-5310)cGa>cAa p.R1770Q READ 2 61522383 61522383 + Missense_Mutation SNP T T C TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr2:61522383T>C c.4297A>G c.(4297-4299)Agc>Ggc p.S1433G READ 2 61539018 61539018 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61539018T>G c.3570A>C c.(3568-3570)caA>caC p.Q1190H READ 2 61546367 61546367 + Nonsense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61546367G>A c.3109C>T c.(3109-3111)Cga>Tga p.R1037* READ 2 61566607 61566607 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:61566607G>T c.2623C>A c.(2623-2625)Ctt>Att p.L875I READ 2 61577702 61577702 + Splice_Site SNP C C T TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr2:61577702C>T c.e11+1 SARC 2 61505330 61505330 + Frame_Shift_Del DEL T T - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr2:61505330delT c.5403delA c.(5401-5403)aaafs p.K1801fs SARC 2 61633120 61633120 + Missense_Mutation SNP G G A TCGA-DX-A1KZ-01A-11D-A24N-09 TCGA-DX-A1KZ-10A-01D-A24N-09 g.chr2:61633120G>A c.275C>T c.(274-276)tCc>tTc p.S92F SKCM 2 61415349 61415349 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:61415349A>C c.10529T>G c.(10528-10530)cTc>cGc p.L3510R SKCM 2 61415640 61415640 + Missense_Mutation SNP T T A TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr2:61415640T>A c.10238A>T c.(10237-10239)aAa>aTa p.K3413I SKCM 2 61415732 61415732 + Silent SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr2:61415732T>C c.10146A>G c.(10144-10146)ccA>ccG p.P3382P SKCM 2 61416152 61416152 + Missense_Mutation SNP T T A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr2:61416152T>A c.9926A>T c.(9925-9927)aAc>aTc p.N3309I SKCM 2 61430335 61430335 + Missense_Mutation SNP G G C TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 g.chr2:61430335G>C c.9448C>G c.(9448-9450)Cat>Gat p.H3150D SKCM 2 61430389 61430389 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr2:61430389C>T c.9394G>A c.(9394-9396)Gac>Aac p.D3132N SKCM 2 61441559 61441559 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:61441559G>A c.8318C>T c.(8317-8319)tCc>tTc p.S2773F SKCM 2 61441800 61441800 + Missense_Mutation SNP G G A TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr2:61441800G>A c.8077C>T c.(8077-8079)Cca>Tca p.P2693S SKCM 2 61450224 61450224 + Missense_Mutation SNP A A C TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr2:61450224A>C c.7720T>G c.(7720-7722)Tgt>Ggt p.C2574G SKCM 2 61454326 61454326 + Missense_Mutation SNP C C T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 g.chr2:61454326C>T c.7471G>A c.(7471-7473)Gaa>Aaa p.E2491K SKCM 2 61484347 61484347 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr2:61484347G>A c.5983C>T c.(5983-5985)Ccc>Tcc p.P1995S SKCM 2 61493252 61493252 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr2:61493252C>T c.5484G>A c.(5482-5484)aaG>aaA p.K1828K SKCM 2 61505556 61505556 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:61505556G>A c.5279C>T c.(5278-5280)gCc>gTc p.A1760V SKCM 2 61508254 61508254 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:61508254G>A c.5122C>T c.(5122-5124)Cct>Tct p.P1708S SKCM 2 61510285 61510285 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:61510285G>A c.4993C>T c.(4993-4995)Cct>Tct p.P1665S SKCM 2 61512070 61512070 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 g.chr2:61512070C>T c.4772G>A c.(4771-4773)gGa>gAa p.G1591E SKCM 2 61528235 61528235 + Missense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr2:61528235G>A c.3979C>T c.(3979-3981)Cca>Tca p.P1327S SKCM 2 61528560 61528560 + Missense_Mutation SNP A A C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr2:61528560A>C c.3847T>G c.(3847-3849)Tca>Gca p.S1283A SKCM 2 61571002 61571002 + Silent SNP G G A TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr2:61571002G>A c.2448C>T c.(2446-2448)ctC>ctT p.L816L SKCM 2 61575559 61575559 + Missense_Mutation SNP A A C TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr2:61575559A>C c.1731T>G c.(1729-1731)agT>agG p.S577R SKCM 2 61597488 61597488 + Nonsense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr2:61597488G>A c.1219C>T c.(1219-1221)Caa>Taa p.Q407* SKCM 2 61610405 61610405 + Splice_Site SNP T T C TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr2:61610405T>C c.820A>G c.(820-822)Agg>Ggg p.R274G

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 2 61413757 61413757 single base substitution T C downstream_gene_variant BLCA-CN 2 61413915 61413915 single base substitution T C downstream_gene_variant BLCA-CN 2 61431725 61431725 single base substitution C T downstream_gene_variant BLCA-CN 2 61431725 61431725 single base substitution C T exon_variant BLCA-CN 2 61431725 61431725 single base substitution C T missense_variant E3056K 9166G>A BLCA-CN 2 61431725 61431725 single base substitution C T missense_variant E815K 2443G>A BLCA-CN 2 61431725 61431725 single base substitution C T upstream_gene_variant BLCA-CN 2 61436045 61436045 single base substitution G A exon_variant BLCA-CN 2 61436045 61436045 single base substitution G A synonymous_variant L2970L 8908C>T BLCA-CN 2 61436045 61436045 single base substitution G A synonymous_variant L729L 2185C>T BLCA-CN 2 61436045 61436045 single base substitution G A upstream_gene_variant BLCA-CN 2 61512026 61512026 single base substitution C G intron_variant BLCA-CN 2 61512026 61512026 single base substitution C G missense_variant D1606H 4816G>C BLCA-CN 2 61512026 61512026 single base substitution C G upstream_gene_variant BLCA-CN 2 61528266 61528266 single base substitution C G missense_variant R1316S 3948G>C BLCA-CN 2 61528266 61528266 single base substitution C G upstream_gene_variant BLCA-CN 2 61541863 61541863 single base substitution C T synonymous_variant E1133E 3399G>A BLCA-CN 2 61575939 61575939 single base substitution T G 3_prime_UTR_variant BLCA-CN 2 61575939 61575939 single base substitution T G missense_variant Q542H 1626A>C BLCA-CN 2 61575939 61575939 single base substitution T G upstream_gene_variant BLCA-US 2 61415533 61415533 single base substitution C G downstream_gene_variant BLCA-US 2 61415533 61415533 single base substitution C G missense_variant E1125Q 3373G>C BLCA-US 2 61415533 61415533 single base substitution C G missense_variant E327Q 979G>C BLCA-US 2 61415533 61415533 single base substitution C G missense_variant E3449Q 10345G>C BLCA-US 2 61416073 61416073 single base substitution C T downstream_gene_variant BLCA-US 2 61416073 61416073 single base substitution C T exon_variant BLCA-US 2 61416073 61416073 single base substitution C T synonymous_variant E1011E 3033G>A BLCA-US 2 61416073 61416073 single base substitution C T synonymous_variant E213E 639G>A BLCA-US 2 61416073 61416073 single base substitution C T synonymous_variant E3335E 10005G>A BLCA-US 2 61431458 61431458 single base substitution C T downstream_gene_variant BLCA-US 2 61431458 61431458 single base substitution C T exon_variant BLCA-US 2 61431458 61431458 single base substitution C T intron_variant BLCA-US 2 61431458 61431458 single base substitution C T missense_variant S3106N 9317G>A BLCA-US 2 61431458 61431458 single base substitution C T missense_variant S3N 8G>A BLCA-US 2 61433904 61433904 single base substitution G C downstream_gene_variant BLCA-US 2 61433904 61433904 single base substitution G C exon_variant BLCA-US 2 61433904 61433904 single base substitution G C missense_variant Q3013E 9037C>G BLCA-US 2 61433904 61433904 single base substitution G C missense_variant Q772E 2314C>G BLCA-US 2 61433904 61433904 single base substitution G C upstream_gene_variant BLCA-US 2 61566811 61566811 single base substitution C T exon_variant BLCA-US 2 61566811 61566811 single base substitution C T missense_variant V836I 2506G>A BLCA-US 2 61575533 61575533 single base substitution C G 3_prime_UTR_variant BLCA-US 2 61575533 61575533 single base substitution C G missense_variant S586T 1757G>C BLCA-US 2 61575533 61575533 single base substitution C G upstream_gene_variant BLCA-US 2 61607465 61607465 single base substitution G A 3_prime_UTR_variant BLCA-US 2 61607465 61607465 single base substitution G A stop_gained R285* 853C>T BLCA-US 2 61622358 61622358 single base substitution G A intron_variant BLCA-US 2 61622358 61622358 single base substitution G A missense_variant T188I 563C>T BLCA-US 2 61622361 61622361 single base substitution G A intron_variant BLCA-US 2 61622361 61622361 single base substitution G A missense_variant S187L 560C>T BOCA-FR 2 61417284 61417284 single base substitution G A downstream_gene_variant BOCA-FR 2 61417284 61417284 single base substitution G A exon_variant BOCA-FR 2 61417284 61417284 single base substitution G A intron_variant BOCA-FR 2 61417284 61417284 single base substitution G A upstream_gene_variant BOCA-FR 2 61566706 61566706 insertion of <=200bp - GCAT downstream_gene_variant BOCA-FR 2 61566706 61566706 insertion of <=200bp - GCAT frameshift_variant D871DA? BOCA-UK 2 61433943 61433943 single base substitution T C downstream_gene_variant BOCA-UK 2 61433943 61433943 single base substitution T C exon_variant BOCA-UK 2 61433943 61433943 single base substitution T C missense_variant I3000V 8998A>G BOCA-UK 2 61433943 61433943 single base substitution T C missense_variant I759V 2275A>G BOCA-UK 2 61433943 61433943 single base substitution T C upstream_gene_variant BRCA-EU 2 61410213 61410213 single base substitution G C downstream_gene_variant BRCA-EU 2 61410258 61410258 single base substitution T C downstream_gene_variant BRCA-EU 2 61410339 61410339 single base substitution G A downstream_gene_variant BRCA-EU 2 61411297 61411297 single base substitution G C downstream_gene_variant BRCA-EU 2 61413395 61413395 single base substitution G C downstream_gene_variant BRCA-EU 2 61413414 61413414 single base substitution G C downstream_gene_variant BRCA-EU 2 61414430 61414430 single base substitution G A downstream_gene_variant BRCA-EU 2 61416046 61416046 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 61416046 61416046 deletion of <=200bp T - frameshift_variant K1020 BRCA-EU 2 61416046 61416046 deletion of <=200bp T - frameshift_variant K222 BRCA-EU 2 61416046 61416046 deletion of <=200bp T - frameshift_variant K3344 BRCA-EU 2 61416046 61416046 deletion of <=200bp T - splice_region_variant BRCA-EU 2 61416050 61416050 single base substitution G A downstream_gene_variant BRCA-EU 2 61416050 61416050 single base substitution G A exon_variant BRCA-EU 2 61416050 61416050 single base substitution G A missense_variant T1019I 3056C>T BRCA-EU 2 61416050 61416050 single base substitution G A missense_variant T221I 662C>T BRCA-EU 2 61416050 61416050 single base substitution G A missense_variant T3343I 10028C>T BRCA-EU 2 61416987 61416987 single base substitution T G downstream_gene_variant BRCA-EU 2 61416987 61416987 single base substitution T G exon_variant BRCA-EU 2 61416987 61416987 single base substitution T G intron_variant BRCA-EU 2 61416987 61416987 single base substitution T G upstream_gene_variant BRCA-EU 2 61417196 61417196 single base substitution G A downstream_gene_variant BRCA-EU 2 61417196 61417196 single base substitution G A exon_variant BRCA-EU 2 61417196 61417196 single base substitution G A intron_variant BRCA-EU 2 61417196 61417196 single base substitution G A upstream_gene_variant BRCA-EU 2 61417529 61417529 single base substitution A G downstream_gene_variant BRCA-EU 2 61417529 61417529 single base substitution A G exon_variant BRCA-EU 2 61417529 61417529 single base substitution A G synonymous_variant S128S 384T>C BRCA-EU 2 61417529 61417529 single base substitution A G synonymous_variant S3250S 9750T>C BRCA-EU 2 61417529 61417529 single base substitution A G synonymous_variant S926S 2778T>C BRCA-EU 2 61417529 61417529 single base substitution A G upstream_gene_variant BRCA-EU 2 61418335 61418335 single base substitution C G exon_variant BRCA-EU 2 61418335 61418335 single base substitution C G intron_variant BRCA-EU 2 61418335 61418335 single base substitution C G upstream_gene_variant BRCA-EU 2 61418643 61418643 single base substitution G C intron_variant BRCA-EU 2 61418643 61418643 single base substitution G C upstream_gene_variant BRCA-EU 2 61421644 61421644 single base substitution T C intron_variant BRCA-EU 2 61421644 61421644 single base substitution T C upstream_gene_variant BRCA-EU 2 61424493 61424493 single base substitution T C intron_variant BRCA-EU 2 61424493 61424493 single base substitution T C upstream_gene_variant BRCA-EU 2 61425369 61425369 single base substitution A C intron_variant BRCA-EU 2 61425369 61425369 single base substitution A C upstream_gene_variant BRCA-EU 2 61425651 61425651 single base substitution A C intron_variant BRCA-EU 2 61427886 61427886 single base substitution A G downstream_gene_variant BRCA-EU 2 61427886 61427886 single base substitution A G intron_variant BRCA-EU 2 61428242 61428242 single base substitution T C downstream_gene_variant BRCA-EU 2 61428242 61428242 single base substitution T C intron_variant BRCA-EU 2 61429780 61429780 single base substitution C G downstream_gene_variant BRCA-EU 2 61429780 61429780 single base substitution C G intron_variant BRCA-EU 2 61430378 61430378 single base substitution A C downstream_gene_variant BRCA-EU 2 61430378 61430378 single base substitution A C exon_variant BRCA-EU 2 61430378 61430378 single base substitution A C intron_variant BRCA-EU 2 61430378 61430378 single base substitution A C missense_variant D3135E 9405T>G BRCA-EU 2 61430576 61430576 single base substitution C T downstream_gene_variant BRCA-EU 2 61430576 61430576 single base substitution C T intron_variant BRCA-EU 2 61430615 61430615 single base substitution C G downstream_gene_variant BRCA-EU 2 61430615 61430615 single base substitution C G intron_variant BRCA-EU 2 61430707 61430707 single base substitution C G downstream_gene_variant BRCA-EU 2 61430707 61430707 single base substitution C G intron_variant BRCA-EU 2 61431467 61431467 single base substitution C G downstream_gene_variant BRCA-EU 2 61431467 61431467 single base substitution C G exon_variant BRCA-EU 2 61431467 61431467 single base substitution C G intron_variant BRCA-EU 2 61431467 61431467 single base substitution C G missense_variant G3103A 9308G>C BRCA-EU 2 61431467 61431467 single base substitution C G upstream_gene_variant BRCA-EU 2 61432018 61432018 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 61432018 61432018 deletion of <=200bp T - intron_variant BRCA-EU 2 61432018 61432018 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 61433626 61433626 single base substitution G C downstream_gene_variant BRCA-EU 2 61433626 61433626 single base substitution G C intron_variant BRCA-EU 2 61433626 61433626 single base substitution G C upstream_gene_variant BRCA-EU 2 61434166 61434166 single base substitution A T downstream_gene_variant BRCA-EU 2 61434166 61434166 single base substitution A T exon_variant BRCA-EU 2 61434166 61434166 single base substitution A T intron_variant BRCA-EU 2 61434166 61434166 single base substitution A T upstream_gene_variant BRCA-EU 2 61435595 61435595 single base substitution C G downstream_gene_variant BRCA-EU 2 61435595 61435595 single base substitution C G exon_variant BRCA-EU 2 61435595 61435595 single base substitution C G intron_variant BRCA-EU 2 61435595 61435595 single base substitution C G upstream_gene_variant BRCA-EU 2 61436019 61436019 single base substitution C G downstream_gene_variant BRCA-EU 2 61436019 61436019 single base substitution C G exon_variant BRCA-EU 2 61436019 61436019 single base substitution C G intron_variant BRCA-EU 2 61436019 61436019 single base substitution C G upstream_gene_variant BRCA-EU 2 61436032 61436032 single base substitution A G downstream_gene_variant BRCA-EU 2 61436032 61436032 single base substitution A G exon_variant BRCA-EU 2 61436032 61436032 single base substitution A G splice_donor_variant BRCA-EU 2 61436032 61436032 single base substitution A G upstream_gene_variant BRCA-EU 2 61436797 61436797 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 61436797 61436797 deletion of <=200bp A - intron_variant BRCA-EU 2 61437041 61437041 single base substitution T G downstream_gene_variant BRCA-EU 2 61437041 61437041 single base substitution T G intron_variant BRCA-EU 2 61439277 61439277 single base substitution G A downstream_gene_variant BRCA-EU 2 61439277 61439277 single base substitution G A intron_variant BRCA-EU 2 61439873 61439873 single base substitution C G downstream_gene_variant BRCA-EU 2 61439873 61439873 single base substitution C G intron_variant BRCA-EU 2 61439895 61439895 single base substitution T C downstream_gene_variant BRCA-EU 2 61439895 61439895 single base substitution T C intron_variant BRCA-EU 2 61440115 61440115 single base substitution C A downstream_gene_variant BRCA-EU 2 61440115 61440115 single base substitution C A intron_variant BRCA-EU 2 61440466 61440466 single base substitution T C downstream_gene_variant BRCA-EU 2 61440466 61440466 single base substitution T C intron_variant BRCA-EU 2 61440525 61440525 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 61440525 61440525 deletion of <=200bp A - intron_variant BRCA-EU 2 61443578 61443578 single base substitution A G downstream_gene_variant BRCA-EU 2 61443578 61443578 single base substitution A G intron_variant BRCA-EU 2 61443578 61443578 single base substitution A G upstream_gene_variant BRCA-EU 2 61446032 61446032 single base substitution C G downstream_gene_variant BRCA-EU 2 61446032 61446032 single base substitution C G intron_variant BRCA-EU 2 61446032 61446032 single base substitution C G upstream_gene_variant BRCA-EU 2 61446521 61446521 single base substitution C T downstream_gene_variant BRCA-EU 2 61446521 61446521 single base substitution C T intron_variant BRCA-EU 2 61446521 61446521 single base substitution C T upstream_gene_variant BRCA-EU 2 61446793 61446793 single base substitution G A downstream_gene_variant BRCA-EU 2 61446793 61446793 single base substitution G A intron_variant BRCA-EU 2 61446793 61446793 single base substitution G A upstream_gene_variant BRCA-EU 2 61447537 61447537 single base substitution C T downstream_gene_variant BRCA-EU 2 61447537 61447537 single base substitution C T exon_variant BRCA-EU 2 61447537 61447537 single base substitution C T missense_variant R2652Q 7955G>A BRCA-EU 2 61447537 61447537 single base substitution C T missense_variant R411Q 1232G>A BRCA-EU 2 61447537 61447537 single base substitution C T upstream_gene_variant BRCA-EU 2 61448255 61448255 single base substitution C G downstream_gene_variant BRCA-EU 2 61448255 61448255 single base substitution C G intron_variant BRCA-EU 2 61448255 61448255 single base substitution C G upstream_gene_variant BRCA-EU 2 61448577 61448577 single base substitution T C downstream_gene_variant BRCA-EU 2 61448577 61448577 single base substitution T C intron_variant BRCA-EU 2 61448577 61448577 single base substitution T C upstream_gene_variant BRCA-EU 2 61448792 61448792 single base substitution C G downstream_gene_variant BRCA-EU 2 61448792 61448792 single base substitution C G exon_variant BRCA-EU 2 61448792 61448792 single base substitution C G intron_variant BRCA-EU 2 61448792 61448792 single base substitution C G upstream_gene_variant BRCA-EU 2 61450051 61450051 single base substitution C G downstream_gene_variant BRCA-EU 2 61450051 61450051 single base substitution C G exon_variant BRCA-EU 2 61450051 61450051 single base substitution C G intron_variant BRCA-EU 2 61450051 61450051 single base substitution C G upstream_gene_variant BRCA-EU 2 61450076 61450076 single base substitution C T downstream_gene_variant BRCA-EU 2 61450076 61450076 single base substitution C T exon_variant BRCA-EU 2 61450076 61450076 single base substitution C T intron_variant BRCA-EU 2 61450076 61450076 single base substitution C T upstream_gene_variant BRCA-EU 2 61450347 61450347 single base substitution G A downstream_gene_variant BRCA-EU 2 61450347 61450347 single base substitution G A exon_variant BRCA-EU 2 61450347 61450347 single base substitution G A intron_variant BRCA-EU 2 61450347 61450347 single base substitution G A upstream_gene_variant BRCA-EU 2 61450370 61450370 single base substitution G C downstream_gene_variant BRCA-EU 2 61450370 61450370 single base substitution G C exon_variant BRCA-EU 2 61450370 61450370 single base substitution G C intron_variant BRCA-EU 2 61450370 61450370 single base substitution G C upstream_gene_variant BRCA-EU 2 61450638 61450638 single base substitution T C downstream_gene_variant BRCA-EU 2 61450638 61450638 single base substitution T C exon_variant BRCA-EU 2 61450638 61450638 single base substitution T C intron_variant BRCA-EU 2 61450638 61450638 single base substitution T C upstream_gene_variant BRCA-EU 2 61450894 61450894 single base substitution G C downstream_gene_variant BRCA-EU 2 61450894 61450894 single base substitution G C intron_variant BRCA-EU 2 61450894 61450894 single base substitution G C upstream_gene_variant BRCA-EU 2 61451164 61451164 single base substitution T C downstream_gene_variant BRCA-EU 2 61451164 61451164 single base substitution T C intron_variant BRCA-EU 2 61451164 61451164 single base substitution T C upstream_gene_variant BRCA-EU 2 61451854 61451854 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 61451854 61451854 insertion of <=200bp - A intron_variant BRCA-EU 2 61451854 61451854 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 61452409 61452409 single base substitution T G downstream_gene_variant BRCA-EU 2 61452409 61452409 single base substitution T G intron_variant BRCA-EU 2 61452409 61452409 single base substitution T G upstream_gene_variant BRCA-EU 2 61452743 61452743 single base substitution G A downstream_gene_variant BRCA-EU 2 61452743 61452743 single base substitution G A intron_variant BRCA-EU 2 61452743 61452743 single base substitution G A upstream_gene_variant BRCA-EU 2 61455096 61455096 single base substitution C T intron_variant BRCA-EU 2 61455096 61455096 single base substitution C T upstream_gene_variant BRCA-EU 2 61455243 61455243 single base substitution T C intron_variant BRCA-EU 2 61455243 61455243 single base substitution T C upstream_gene_variant BRCA-EU 2 61456110 61456110 single base substitution G A exon_variant BRCA-EU 2 61456110 61456110 single base substitution G A intron_variant BRCA-EU 2 61456110 61456110 single base substitution G A missense_variant S166L 497C>T BRCA-EU 2 61456110 61456110 single base substitution G A missense_variant S2407L 7220C>T BRCA-EU 2 61456110 61456110 single base substitution G A missense_variant S685L 2054C>T BRCA-EU 2 61458419 61458419 deletion of <=200bp T - intron_variant BRCA-EU 2 61458682 61458682 single base substitution C G intron_variant BRCA-EU 2 61459646 61459646 single base substitution C G exon_variant BRCA-EU 2 61459646 61459646 single base substitution C G intron_variant BRCA-EU 2 61459646 61459646 single base substitution C G missense_variant D111H 331G>C BRCA-EU 2 61459646 61459646 single base substitution C G missense_variant D2352H 7054G>C BRCA-EU 2 61459646 61459646 single base substitution C G missense_variant D630H 1888G>C BRCA-EU 2 61459673 61459673 deletion of <=200bp A - intron_variant BRCA-EU 2 61459673 61459673 deletion of <=200bp A - splice_region_variant BRCA-EU 2 61461486 61461486 single base substitution A G intron_variant BRCA-EU 2 61463679 61463679 single base substitution C G intron_variant BRCA-EU 2 61463707 61463707 single base substitution T G intron_variant BRCA-EU 2 61465832 61465832 single base substitution C A intron_variant BRCA-EU 2 61466532 61466532 single base substitution T C intron_variant BRCA-EU 2 61466698 61466698 single base substitution G C intron_variant BRCA-EU 2 61466737 61466737 single base substitution C A intron_variant BRCA-EU 2 61467457 61467457 single base substitution C A intron_variant BRCA-EU 2 61468063 61468063 single base substitution C T intron_variant BRCA-EU 2 61468867 61468867 single base substitution A C intron_variant BRCA-EU 2 61468867 61468867 single base substitution A C upstream_gene_variant BRCA-EU 2 61471079 61471079 single base substitution C G intron_variant BRCA-EU 2 61471079 61471079 single base substitution C G upstream_gene_variant BRCA-EU 2 61471340 61471340 single base substitution T C intron_variant BRCA-EU 2 61471340 61471340 single base substitution T C upstream_gene_variant BRCA-EU 2 61471985 61471985 single base substitution C A intron_variant BRCA-EU 2 61471985 61471985 single base substitution C A upstream_gene_variant BRCA-EU 2 61472206 61472206 single base substitution C T intron_variant BRCA-EU 2 61472206 61472206 single base substitution C T upstream_gene_variant BRCA-EU 2 61472738 61472738 single base substitution C G intron_variant BRCA-EU 2 61472738 61472738 single base substitution C G upstream_gene_variant BRCA-EU 2 61473630 61473630 single base substitution G A intron_variant BRCA-EU 2 61473630 61473630 single base substitution G A upstream_gene_variant BRCA-EU 2 61474008 61474008 single base substitution C A intron_variant BRCA-EU 2 61474121 61474121 insertion of <=200bp - A intron_variant BRCA-EU 2 61474344 61474344 single base substitution A T intron_variant BRCA-EU 2 61474670 61474670 deletion of <=200bp T - intron_variant BRCA-EU 2 61478812 61478812 single base substitution C A intron_variant BRCA-EU 2 61480049 61480049 single base substitution T A intron_variant BRCA-EU 2 61480353 61480353 single base substitution A C intron_variant BRCA-EU 2 61481674 61481674 single base substitution A G intron_variant BRCA-EU 2 61482653 61482653 single base substitution C G intron_variant BRCA-EU 2 61482653 61482653 single base substitution C T intron_variant BRCA-EU 2 61482982 61482982 single base substitution A T intron_variant BRCA-EU 2 61485031 61485031 deletion of <=200bp A - intron_variant BRCA-EU 2 61485031 61485031 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 61485038 61485038 single base substitution A C intron_variant BRCA-EU 2 61485038 61485038 single base substitution A C upstream_gene_variant BRCA-EU 2 61485515 61485528 deletion of <=200bp AGATTTAACAGGTG - intron_variant BRCA-EU 2 61485515 61485528 deletion of <=200bp AGATTTAACAGGTG - upstream_gene_variant BRCA-EU 2 61486541 61486541 single base substitution G C intron_variant BRCA-EU 2 61486541 61486541 single base substitution G C upstream_gene_variant BRCA-EU 2 61489175 61489175 single base substitution A G downstream_gene_variant BRCA-EU 2 61489175 61489175 single base substitution A G intron_variant BRCA-EU 2 61489178 61489178 single base substitution A T downstream_gene_variant BRCA-EU 2 61489178 61489178 single base substitution A T intron_variant BRCA-EU 2 61489180 61489180 single base substitution C T downstream_gene_variant BRCA-EU 2 61489180 61489180 single base substitution C T intron_variant BRCA-EU 2 61489182 61489182 single base substitution C T downstream_gene_variant BRCA-EU 2 61489182 61489182 single base substitution C T intron_variant BRCA-EU 2 61489487 61489487 single base substitution C T downstream_gene_variant BRCA-EU 2 61489487 61489487 single base substitution C T intron_variant BRCA-EU 2 61490389 61490389 single base substitution C T downstream_gene_variant BRCA-EU 2 61490389 61490389 single base substitution C T intron_variant BRCA-EU 2 61490613 61490613 single base substitution G A downstream_gene_variant BRCA-EU 2 61490613 61490613 single base substitution G A intron_variant BRCA-EU 2 61490783 61490783 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 61490783 61490783 insertion of <=200bp - T intron_variant BRCA-EU 2 61491881 61491881 single base substitution G A downstream_gene_variant BRCA-EU 2 61491881 61491881 single base substitution G A intron_variant BRCA-EU 2 61493561 61493561 single base substitution C T intron_variant BRCA-EU 2 61493561 61493561 single base substitution C T upstream_gene_variant BRCA-EU 2 61495885 61495885 single base substitution T C intron_variant BRCA-EU 2 61495885 61495885 single base substitution T C upstream_gene_variant BRCA-EU 2 61496643 61496643 single base substitution C G intron_variant BRCA-EU 2 61496643 61496643 single base substitution C G upstream_gene_variant BRCA-EU 2 61496836 61496836 single base substitution T C intron_variant BRCA-EU 2 61496836 61496836 single base substitution T C upstream_gene_variant BRCA-EU 2 61496865 61496865 single base substitution C T intron_variant BRCA-EU 2 61496865 61496865 single base substitution C T upstream_gene_variant BRCA-EU 2 61497091 61497091 deletion of <=200bp A - intron_variant BRCA-EU 2 61497091 61497091 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 61497098 61497098 single base substitution A T intron_variant BRCA-EU 2 61497098 61497098 single base substitution A T upstream_gene_variant BRCA-EU 2 61497247 61497247 single base substitution G A intron_variant BRCA-EU 2 61497247 61497247 single base substitution G A upstream_gene_variant BRCA-EU 2 61497990 61497990 single base substitution C T intron_variant BRCA-EU 2 61497990 61497990 single base substitution C T upstream_gene_variant BRCA-EU 2 61499930 61499930 single base substitution C A downstream_gene_variant BRCA-EU 2 61499930 61499930 single base substitution C A intron_variant BRCA-EU 2 61500786 61500786 single base substitution G C downstream_gene_variant BRCA-EU 2 61500786 61500786 single base substitution G C intron_variant BRCA-EU 2 61501560 61501560 single base substitution A G downstream_gene_variant BRCA-EU 2 61501560 61501560 single base substitution A G intron_variant BRCA-EU 2 61504835 61504835 single base substitution C T downstream_gene_variant BRCA-EU 2 61504835 61504835 single base substitution C T intron_variant BRCA-EU 2 61505570 61505570 single base substitution G C exon_variant BRCA-EU 2 61505570 61505570 single base substitution G C intron_variant BRCA-EU 2 61505570 61505570 single base substitution G C synonymous_variant L1755L 5265C>G BRCA-EU 2 61505570 61505570 single base substitution G C synonymous_variant L33L 99C>G BRCA-EU 2 61505880 61505880 single base substitution T G intron_variant BRCA-EU 2 61507791 61507791 single base substitution C T intron_variant BRCA-EU 2 61507791 61507791 single base substitution C T upstream_gene_variant BRCA-EU 2 61508320 61508320 single base substitution C T intron_variant BRCA-EU 2 61508320 61508320 single base substitution C T missense_variant D1686N 5056G>A BRCA-EU 2 61508320 61508320 single base substitution C T upstream_gene_variant BRCA-EU 2 61509019 61509019 single base substitution C T intron_variant BRCA-EU 2 61509019 61509019 single base substitution C T upstream_gene_variant BRCA-EU 2 61509166 61509166 single base substitution C T intron_variant BRCA-EU 2 61509166 61509166 single base substitution C T upstream_gene_variant BRCA-EU 2 61509551 61509551 single base substitution G T intron_variant BRCA-EU 2 61509551 61509551 single base substitution G T upstream_gene_variant BRCA-EU 2 61512261 61512261 single base substitution C G intron_variant BRCA-EU 2 61512261 61512261 single base substitution C G upstream_gene_variant BRCA-EU 2 61512834 61512834 deletion of <=200bp A - intron_variant BRCA-EU 2 61512834 61512834 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 61513790 61513790 deletion of <=200bp A - intron_variant BRCA-EU 2 61513832 61513832 single base substitution C G intron_variant BRCA-EU 2 61514498 61514498 single base substitution C G intron_variant BRCA-EU 2 61516326 61516326 single base substitution C A intron_variant BRCA-EU 2 61516356 61516356 single base substitution T C intron_variant BRCA-EU 2 61518209 61518209 single base substitution C G intron_variant BRCA-EU 2 61519503 61519503 single base substitution C T intron_variant BRCA-EU 2 61520051 61520051 deletion of <=200bp A - intron_variant BRCA-EU 2 61520779 61520779 single base substitution G A intron_variant BRCA-EU 2 61521582 61521582 deletion of <=200bp T - intron_variant BRCA-EU 2 61524191 61524191 single base substitution T C intron_variant BRCA-EU 2 61525339 61525339 single base substitution C G intron_variant BRCA-EU 2 61529791 61529791 single base substitution C G intron_variant BRCA-EU 2 61529791 61529791 single base substitution C G upstream_gene_variant BRCA-EU 2 61530949 61530949 single base substitution T C intron_variant BRCA-EU 2 61530949 61530949 single base substitution T C upstream_gene_variant BRCA-EU 2 61531284 61531311 deletion of <=200bp TGGCCTCAAAGCCTTGGGATTACAGGCA - intron_variant BRCA-EU 2 61531284 61531311 deletion of <=200bp TGGCCTCAAAGCCTTGGGATTACAGGCA - upstream_gene_variant BRCA-EU 2 61531697 61531697 single base substitution G C intron_variant BRCA-EU 2 61531697 61531697 single base substitution G C upstream_gene_variant BRCA-EU 2 61532365 61532365 single base substitution A G intron_variant BRCA-EU 2 61532365 61532365 single base substitution A G upstream_gene_variant BRCA-EU 2 61532421 61532421 single base substitution G A intron_variant BRCA-EU 2 61532421 61532421 single base substitution G A upstream_gene_variant BRCA-EU 2 61532922 61532922 deletion of <=200bp C - intron_variant BRCA-EU 2 61532922 61532922 deletion of <=200bp C - upstream_gene_variant BRCA-EU 2 61533098 61533098 single base substitution T C intron_variant BRCA-EU 2 61533098 61533098 single base substitution T C upstream_gene_variant BRCA-EU 2 61533307 61533307 single base substitution T A intron_variant BRCA-EU 2 61533927 61533927 single base substitution G A intron_variant BRCA-EU 2 61534057 61534057 single base substitution C A intron_variant BRCA-EU 2 61534734 61534734 single base substitution T C intron_variant BRCA-EU 2 61534905 61534905 single base substitution G A intron_variant BRCA-EU 2 61535183 61535183 single base substitution C G intron_variant BRCA-EU 2 61535406 61535406 single base substitution C G intron_variant BRCA-EU 2 61535545 61535545 single base substitution G C intron_variant BRCA-EU 2 61536492 61536492 single base substitution C T intron_variant BRCA-EU 2 61537174 61537174 deletion of <=200bp A - intron_variant BRCA-EU 2 61537876 61537876 single base substitution G C intron_variant BRCA-EU 2 61537920 61537920 single base substitution C G intron_variant BRCA-EU 2 61538814 61538814 single base substitution A C missense_variant I1226M 3678T>G BRCA-EU 2 61539172 61539172 single base substitution C G intron_variant BRCA-EU 2 61539216 61539216 single base substitution C A intron_variant BRCA-EU 2 61539891 61539891 single base substitution G A intron_variant BRCA-EU 2 61540212 61540212 single base substitution A T intron_variant BRCA-EU 2 61540248 61540248 single base substitution C G intron_variant BRCA-EU 2 61542284 61542284 deletion of <=200bp A - intron_variant BRCA-EU 2 61544635 61544635 single base substitution C G intron_variant BRCA-EU 2 61544761 61544761 single base substitution G A intron_variant BRCA-EU 2 61545643 61545643 single base substitution T A intron_variant BRCA-EU 2 61547775 61547775 single base substitution G A intron_variant BRCA-EU 2 61548557 61548557 single base substitution G C intron_variant BRCA-EU 2 61548733 61548733 single base substitution G A intron_variant BRCA-EU 2 61549169 61549169 single base substitution G C intron_variant BRCA-EU 2 61551288 61551288 single base substitution G C intron_variant BRCA-EU 2 61551937 61551937 deletion of <=200bp A - intron_variant BRCA-EU 2 61551958 61551958 single base substitution T G intron_variant BRCA-EU 2 61553332 61553332 single base substitution T A intron_variant BRCA-EU 2 61555209 61555209 single base substitution G C intron_variant BRCA-EU 2 61557013 61557013 single base substitution C A intron_variant BRCA-EU 2 61558889 61558889 single base substitution C T intron_variant BRCA-EU 2 61561071 61561071 single base substitution A G missense_variant L927P 2780T>C BRCA-EU 2 61565309 61565309 single base substitution A G downstream_gene_variant BRCA-EU 2 61565309 61565309 single base substitution A G intron_variant BRCA-EU 2 61565435 61565435 single base substitution G A downstream_gene_variant BRCA-EU 2 61565435 61565435 single base substitution G A intron_variant BRCA-EU 2 61566073 61566073 deletion of <=200bp G - downstream_gene_variant BRCA-EU 2 61566073 61566073 deletion of <=200bp G - intron_variant BRCA-EU 2 61567341 61567341 deletion of <=200bp A - intron_variant BRCA-EU 2 61568541 61568541 single base substitution C G intron_variant BRCA-EU 2 61568628 61568628 single base substitution C T intron_variant BRCA-EU 2 61570472 61570472 single base substitution G C downstream_gene_variant BRCA-EU 2 61570472 61570472 single base substitution G C intron_variant BRCA-EU 2 61572540 61572540 single base substitution G C downstream_gene_variant BRCA-EU 2 61572540 61572540 single base substitution G C intron_variant BRCA-EU 2 61574707 61574707 single base substitution C G downstream_gene_variant BRCA-EU 2 61574707 61574707 single base substitution C G intron_variant BRCA-EU 2 61575232 61575244 deletion of <=200bp ATCTACTGATGGC - downstream_gene_variant BRCA-EU 2 61575232 61575244 deletion of <=200bp ATCTACTGATGGC - frameshift_variant LPSVD682 BRCA-EU 2 61575232 61575244 deletion of <=200bp ATCTACTGATGGC - upstream_gene_variant BRCA-EU 2 61576633 61576633 single base substitution G A intron_variant BRCA-EU 2 61576633 61576633 single base substitution G A upstream_gene_variant BRCA-EU 2 61577527 61577527 deletion of <=200bp A - splice_region_variant BRCA-EU 2 61577527 61577527 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 61577974 61577974 single base substitution G A intron_variant BRCA-EU 2 61577974 61577974 single base substitution G A upstream_gene_variant BRCA-EU 2 61579846 61579846 single base substitution T C intron_variant BRCA-EU 2 61579846 61579846 single base substitution T C upstream_gene_variant BRCA-EU 2 61580438 61580438 deletion of <=200bp T - intron_variant BRCA-EU 2 61581909 61581909 single base substitution G A intron_variant BRCA-EU 2 61582267 61582267 single base substitution C G intron_variant BRCA-EU 2 61583540 61583540 single base substitution G A intron_variant BRCA-EU 2 61585242 61585242 single base substitution A G intron_variant BRCA-EU 2 61587571 61587571 single base substitution C T intron_variant BRCA-EU 2 61587849 61587849 single base substitution T A intron_variant BRCA-EU 2 61589099 61589099 deletion of <=200bp A - intron_variant BRCA-EU 2 61589668 61589668 single base substitution G C intron_variant BRCA-EU 2 61589901 61589901 single base substitution T C intron_variant BRCA-EU 2 61590191 61590191 single base substitution G C intron_variant BRCA-EU 2 61590663 61590663 single base substitution C G intron_variant BRCA-EU 2 61590823 61590823 single base substitution G T intron_variant BRCA-EU 2 61591896 61591896 single base substitution A G intron_variant BRCA-EU 2 61592259 61592259 single base substitution C T intron_variant BRCA-EU 2 61592602 61592602 single base substitution G C intron_variant BRCA-EU 2 61593357 61593357 single base substitution A G intron_variant BRCA-EU 2 61594571 61594571 single base substitution C T intron_variant BRCA-EU 2 61594976 61594976 single base substitution C G intron_variant BRCA-EU 2 61599472 61599472 single base substitution T A intron_variant BRCA-EU 2 61600724 61600724 single base substitution G A intron_variant BRCA-EU 2 61600955 61600955 single base substitution C G intron_variant BRCA-EU 2 61602669 61602669 single base substitution C A intron_variant BRCA-EU 2 61603618 61603618 single base substitution A G intron_variant BRCA-EU 2 61603953 61603953 single base substitution A G intron_variant BRCA-EU 2 61604926 61604926 single base substitution C T intron_variant BRCA-EU 2 61606406 61606406 single base substitution C T intron_variant BRCA-EU 2 61606555 61606555 single base substitution T C intron_variant BRCA-EU 2 61607616 61607616 single base substitution C G intron_variant BRCA-EU 2 61608127 61608127 single base substitution C G intron_variant BRCA-EU 2 61608616 61608616 single base substitution G C intron_variant BRCA-EU 2 61608968 61608968 single base substitution A G intron_variant BRCA-EU 2 61612048 61612048 single base substitution G C intron_variant BRCA-EU 2 61612225 61612225 single base substitution A T intron_variant BRCA-EU 2 61612478 61612478 single base substitution C T intron_variant BRCA-EU 2 61612543 61612543 single base substitution G A intron_variant BRCA-EU 2 61612550 61612550 single base substitution C A intron_variant BRCA-EU 2 61612791 61612791 single base substitution A C intron_variant BRCA-EU 2 61613028 61613028 single base substitution T G intron_variant BRCA-EU 2 61613083 61613083 single base substitution G C intron_variant BRCA-EU 2 61613263 61613263 single base substitution A C intron_variant BRCA-EU 2 61613305 61613305 single base substitution A G intron_variant BRCA-EU 2 61613722 61613722 single base substitution G A intron_variant BRCA-EU 2 61614967 61614967 deletion of <=200bp T - intron_variant BRCA-EU 2 61616330 61616330 single base substitution T C intron_variant BRCA-EU 2 61616651 61616651 single base substitution G A intron_variant BRCA-EU 2 61616678 61616678 single base substitution T A intron_variant BRCA-EU 2 61616874 61616874 deletion of <=200bp T - intron_variant BRCA-EU 2 61617312 61617312 single base substitution T C intron_variant BRCA-EU 2 61618365 61618365 single base substitution G C intron_variant BRCA-EU 2 61618847 61618847 single base substitution C A intron_variant BRCA-EU 2 61619347 61619347 single base substitution G T intron_variant BRCA-EU 2 61619518 61619518 single base substitution G A intron_variant BRCA-EU 2 61621568 61621568 deletion of <=200bp C - intron_variant BRCA-EU 2 61622271 61622271 deletion of <=200bp A - intron_variant BRCA-EU 2 61622361 61622361 single base substitution G C intron_variant BRCA-EU 2 61622361 61622361 single base substitution G C stop_gained S187* 560C>G BRCA-EU 2 61622536 61622536 single base substitution A C intron_variant BRCA-EU 2 61623571 61623571 single base substitution A C intron_variant BRCA-EU 2 61623681 61623681 single base substitution G A intron_variant BRCA-EU 2 61624056 61624056 single base substitution C G intron_variant BRCA-EU 2 61625736 61625736 single base substitution G A intron_variant BRCA-EU 2 61626288 61626288 single base substitution G C intron_variant BRCA-EU 2 61626956 61626956 single base substitution C T intron_variant BRCA-EU 2 61627279 61627279 single base substitution C G intron_variant BRCA-EU 2 61628833 61628833 single base substitution G A intron_variant BRCA-EU 2 61630995 61630995 single base substitution G A intron_variant BRCA-EU 2 61631548 61631548 single base substitution G C intron_variant BRCA-EU 2 61632512 61632512 single base substitution G A intron_variant BRCA-EU 2 61634046 61634046 single base substitution G T intron_variant BRCA-EU 2 61634053 61634053 single base substitution G A intron_variant BRCA-EU 2 61636129 61636129 single base substitution C G intron_variant BRCA-EU 2 61638443 61638443 single base substitution G C intron_variant BRCA-EU 2 61638569 61638569 single base substitution T A intron_variant BRCA-EU 2 61638760 61638760 single base substitution C A intron_variant BRCA-EU 2 61639459 61639459 single base substitution T C intron_variant BRCA-EU 2 61639569 61639569 single base substitution C G intron_variant BRCA-EU 2 61639599 61639599 single base substitution C A intron_variant BRCA-EU 2 61639733 61639733 single base substitution G T intron_variant BRCA-EU 2 61639759 61639759 single base substitution C T intron_variant BRCA-EU 2 61640804 61640804 single base substitution A C intron_variant BRCA-EU 2 61640974 61640974 single base substitution G A intron_variant BRCA-EU 2 61641330 61641330 single base substitution C T intron_variant BRCA-EU 2 61643922 61643922 single base substitution C T intron_variant BRCA-EU 2 61644056 61644056 single base substitution G T intron_variant BRCA-EU 2 61644842 61644842 single base substitution A T intron_variant BRCA-EU 2 61646070 61646070 single base substitution A C intron_variant BRCA-EU 2 61646539 61646539 single base substitution G A intron_variant BRCA-EU 2 61647907 61647907 single base substitution A C exon_variant BRCA-EU 2 61647907 61647907 single base substitution A C missense_variant F35L 105T>G BRCA-EU 2 61648538 61648538 single base substitution C T intron_variant BRCA-EU 2 61651674 61651674 single base substitution C T intron_variant BRCA-EU 2 61651726 61651730 deletion of <=200bp AAGAA - intron_variant BRCA-EU 2 61652371 61652371 insertion of <=200bp - A intron_variant BRCA-EU 2 61654844 61654844 single base substitution A G intron_variant BRCA-EU 2 61655820 61655820 single base substitution A G intron_variant BRCA-EU 2 61656402 61656402 single base substitution G A intron_variant BRCA-EU 2 61657933 61657933 single base substitution G C intron_variant BRCA-EU 2 61658325 61658325 insertion of <=200bp - T intron_variant BRCA-EU 2 61658544 61658544 single base substitution T C intron_variant BRCA-EU 2 61658853 61658853 single base substitution G A intron_variant BRCA-EU 2 61662703 61662703 single base substitution G T intron_variant BRCA-EU 2 61665540 61665540 single base substitution G A intron_variant BRCA-EU 2 61665569 61665569 single base substitution G A intron_variant BRCA-EU 2 61665577 61665577 single base substitution G A intron_variant BRCA-EU 2 61667050 61667050 single base substitution G A intron_variant BRCA-EU 2 61667968 61667968 single base substitution A T intron_variant BRCA-EU 2 61669552 61669552 single base substitution A G intron_variant BRCA-EU 2 61670778 61670778 single base substitution A C intron_variant BRCA-EU 2 61671183 61671183 single base substitution G A intron_variant BRCA-EU 2 61672350 61672350 single base substitution A T intron_variant BRCA-EU 2 61673038 61673038 single base substitution G A intron_variant BRCA-EU 2 61673836 61673836 single base substitution T A intron_variant BRCA-EU 2 61675078 61675078 single base substitution T C intron_variant BRCA-EU 2 61675599 61675599 deletion of <=200bp A - intron_variant BRCA-EU 2 61675680 61675680 single base substitution G A intron_variant BRCA-EU 2 61677172 61677172 single base substitution G C intron_variant BRCA-EU 2 61677320 61677320 deletion of <=200bp A - intron_variant BRCA-EU 2 61677424 61677424 single base substitution A T intron_variant BRCA-EU 2 61677471 61677471 single base substitution G A intron_variant BRCA-EU 2 61677724 61677724 single base substitution C T intron_variant BRCA-EU 2 61677825 61677825 single base substitution G A intron_variant BRCA-EU 2 61678193 61678193 single base substitution A C intron_variant BRCA-EU 2 61679928 61679928 single base substitution G A intron_variant BRCA-EU 2 61680160 61680160 deletion of <=200bp T - intron_variant BRCA-EU 2 61681780 61681780 single base substitution G A intron_variant BRCA-EU 2 61682750 61682750 single base substitution T A intron_variant BRCA-EU 2 61683525 61683525 single base substitution T A intron_variant BRCA-EU 2 61683877 61683877 single base substitution C T intron_variant BRCA-EU 2 61684574 61684574 single base substitution T C intron_variant BRCA-EU 2 61684860 61684860 single base substitution A G intron_variant BRCA-EU 2 61685550 61685550 single base substitution G T intron_variant BRCA-EU 2 61686726 61686726 single base substitution A G intron_variant BRCA-EU 2 61687107 61687107 single base substitution G A intron_variant BRCA-EU 2 61687512 61687512 single base substitution T C intron_variant BRCA-EU 2 61687680 61687680 insertion of <=200bp - A intron_variant BRCA-EU 2 61687779 61687779 deletion of <=200bp A - intron_variant BRCA-EU 2 61688575 61688575 deletion of <=200bp A - intron_variant BRCA-EU 2 61688575 61688575 insertion of <=200bp - A intron_variant BRCA-EU 2 61688663 61688667 deletion of <=200bp TTTTA - intron_variant BRCA-EU 2 61688755 61688755 single base substitution G T intron_variant BRCA-EU 2 61688993 61688993 single base substitution G C intron_variant BRCA-EU 2 61689577 61689577 single base substitution G C intron_variant BRCA-EU 2 61690657 61690657 single base substitution T G intron_variant BRCA-EU 2 61692668 61692668 single base substitution T G intron_variant BRCA-EU 2 61694863 61694863 single base substitution C A intron_variant BRCA-EU 2 61696342 61696342 single base substitution C G intron_variant BRCA-EU 2 61696745 61696745 single base substitution T C intron_variant BRCA-EU 2 61696943 61696943 single base substitution T A intron_variant BRCA-EU 2 61696959 61696959 single base substitution C T intron_variant BRCA-EU 2 61697841 61697841 deletion of <=200bp C - 5_prime_UTR_variant BRCA-EU 2 61697841 61697841 deletion of <=200bp C - upstream_gene_variant BRCA-EU 2 61698949 61698949 single base substitution G C upstream_gene_variant BRCA-EU 2 61698961 61698961 single base substitution G A upstream_gene_variant BRCA-EU 2 61699268 61699268 single base substitution A G upstream_gene_variant BRCA-EU 2 61699508 61699508 single base substitution C G upstream_gene_variant BRCA-EU 2 61699963 61699963 single base substitution A C upstream_gene_variant BRCA-EU 2 61700542 61700542 single base substitution G A upstream_gene_variant BRCA-EU 2 61700894 61700894 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 61701254 61701254 single base substitution G C upstream_gene_variant BRCA-EU 2 61702256 61702256 single base substitution C T upstream_gene_variant BRCA-EU 2 61702280 61702280 single base substitution C T upstream_gene_variant BRCA-EU 2 61702486 61702486 single base substitution T C upstream_gene_variant BRCA-EU 2 61702520 61702520 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 61702663 61702663 deletion of <=200bp T - upstream_gene_variant BRCA-FR 2 61418643 61418643 single base substitution G C intron_variant BRCA-FR 2 61418643 61418643 single base substitution G C upstream_gene_variant BRCA-FR 2 61434257 61434257 single base substitution A G downstream_gene_variant BRCA-FR 2 61434257 61434257 single base substitution A G exon_variant BRCA-FR 2 61434257 61434257 single base substitution A G intron_variant BRCA-FR 2 61434257 61434257 single base substitution A G upstream_gene_variant BRCA-FR 2 61437041 61437041 single base substitution T G downstream_gene_variant BRCA-FR 2 61437041 61437041 single base substitution T G intron_variant BRCA-FR 2 61439277 61439277 single base substitution G A downstream_gene_variant BRCA-FR 2 61439277 61439277 single base substitution G A intron_variant BRCA-FR 2 61446032 61446032 single base substitution C G downstream_gene_variant BRCA-FR 2 61446032 61446032 single base substitution C G intron_variant BRCA-FR 2 61446032 61446032 single base substitution C G upstream_gene_variant BRCA-FR 2 61451695 61451695 single base substitution G C downstream_gene_variant BRCA-FR 2 61451695 61451695 single base substitution G C intron_variant BRCA-FR 2 61451695 61451695 single base substitution G C upstream_gene_variant BRCA-FR 2 61459646 61459646 single base substitution C G exon_variant BRCA-FR 2 61459646 61459646 single base substitution C G intron_variant BRCA-FR 2 61459646 61459646 single base substitution C G missense_variant D111H 331G>C BRCA-FR 2 61459646 61459646 single base substitution C G missense_variant D2352H 7054G>C BRCA-FR 2 61459646 61459646 single base substitution C G missense_variant D630H 1888G>C BRCA-FR 2 61466698 61466698 single base substitution G C intron_variant BRCA-FR 2 61473630 61473630 single base substitution G A intron_variant BRCA-FR 2 61473630 61473630 single base substitution G A upstream_gene_variant BRCA-FR 2 61481651 61481651 single base substitution C T intron_variant BRCA-FR 2 61482653 61482653 single base substitution C G intron_variant BRCA-FR 2 61490389 61490389 single base substitution C T downstream_gene_variant BRCA-FR 2 61490389 61490389 single base substitution C T intron_variant BRCA-FR 2 61493561 61493561 single base substitution C T intron_variant BRCA-FR 2 61493561 61493561 single base substitution C T upstream_gene_variant BRCA-FR 2 61494676 61494676 single base substitution C G intron_variant BRCA-FR 2 61494676 61494676 single base substitution C G upstream_gene_variant BRCA-FR 2 61497990 61497990 single base substitution C T intron_variant BRCA-FR 2 61497990 61497990 single base substitution C T upstream_gene_variant BRCA-FR 2 61519997 61519997 single base substitution C T intron_variant BRCA-FR 2 61529791 61529791 single base substitution C G intron_variant BRCA-FR 2 61529791 61529791 single base substitution C G upstream_gene_variant BRCA-FR 2 61533927 61533927 single base substitution G C intron_variant BRCA-FR 2 61536492 61536492 single base substitution C T intron_variant BRCA-FR 2 61543820 61543820 single base substitution G A intron_variant BRCA-FR 2 61554381 61554381 single base substitution A T intron_variant BRCA-FR 2 61565601 61565601 single base substitution A G downstream_gene_variant BRCA-FR 2 61565601 61565601 single base substitution A G intron_variant BRCA-FR 2 61568628 61568628 single base substitution C T intron_variant BRCA-FR 2 61581909 61581909 single base substitution G A intron_variant BRCA-FR 2 61592602 61592602 single base substitution G C intron_variant BRCA-FR 2 61594976 61594976 single base substitution C G intron_variant BRCA-FR 2 61600724 61600724 single base substitution G A intron_variant BRCA-FR 2 61601703 61601703 single base substitution A C intron_variant BRCA-FR 2 61625373 61625373 single base substitution G A intron_variant BRCA-FR 2 61627279 61627279 single base substitution C G intron_variant BRCA-FR 2 61628833 61628833 single base substitution G A intron_variant BRCA-FR 2 61631548 61631548 single base substitution G C intron_variant BRCA-FR 2 61638569 61638569 single base substitution T A intron_variant BRCA-FR 2 61639569 61639569 single base substitution C G intron_variant BRCA-FR 2 61639599 61639599 single base substitution C A intron_variant BRCA-FR 2 61647472 61647472 single base substitution G A intron_variant BRCA-FR 2 61647907 61647907 single base substitution A C exon_variant BRCA-FR 2 61647907 61647907 single base substitution A C missense_variant F35L 105T>G BRCA-FR 2 61657131 61657131 single base substitution G A intron_variant BRCA-FR 2 61660664 61660664 single base substitution G C intron_variant BRCA-FR 2 61660713 61660713 single base substitution G A intron_variant BRCA-FR 2 61675680 61675680 single base substitution G A intron_variant BRCA-FR 2 61678727 61678727 single base substitution G A intron_variant BRCA-FR 2 61698362 61698362 single base substitution G A upstream_gene_variant BRCA-FR 2 61700542 61700542 single base substitution G A upstream_gene_variant BRCA-FR 2 61702486 61702486 single base substitution T C upstream_gene_variant BRCA-KR 2 61546366 61546366 single base substitution C T missense_variant R1037Q 3110G>A BRCA-UK 2 61425464 61425464 single base substitution C T intron_variant BRCA-UK 2 61425464 61425464 single base substitution C T upstream_gene_variant BRCA-UK 2 61431467 61431467 single base substitution C G downstream_gene_variant BRCA-UK 2 61431467 61431467 single base substitution C G exon_variant BRCA-UK 2 61431467 61431467 single base substitution C G intron_variant BRCA-UK 2 61431467 61431467 single base substitution C G missense_variant G3103A 9308G>C BRCA-UK 2 61431467 61431467 single base substitution C G upstream_gene_variant BRCA-UK 2 61435595 61435595 single base substitution C G downstream_gene_variant BRCA-UK 2 61435595 61435595 single base substitution C G exon_variant BRCA-UK 2 61435595 61435595 single base substitution C G intron_variant BRCA-UK 2 61435595 61435595 single base substitution C G upstream_gene_variant BRCA-UK 2 61439895 61439895 single base substitution T C downstream_gene_variant BRCA-UK 2 61439895 61439895 single base substitution T C intron_variant BRCA-UK 2 61447537 61447537 single base substitution C T downstream_gene_variant BRCA-UK 2 61447537 61447537 single base substitution C T exon_variant BRCA-UK 2 61447537 61447537 single base substitution C T missense_variant R2652Q 7955G>A BRCA-UK 2 61447537 61447537 single base substitution C T missense_variant R411Q 1232G>A BRCA-UK 2 61447537 61447537 single base substitution C T upstream_gene_variant BRCA-UK 2 61469075 61469075 single base substitution C G intron_variant BRCA-UK 2 61469075 61469075 single base substitution C G upstream_gene_variant BRCA-UK 2 61473579 61473579 single base substitution G A exon_variant BRCA-UK 2 61473579 61473579 single base substitution G A intron_variant BRCA-UK 2 61473579 61473579 single base substitution G A missense_variant S2143L 6428C>T BRCA-UK 2 61473579 61473579 single base substitution G A missense_variant S421L 1262C>T BRCA-UK 2 61473579 61473579 single base substitution G A upstream_gene_variant BRCA-UK 2 61478165 61478165 single base substitution C T intron_variant BRCA-UK 2 61482726 61482726 single base substitution C G intron_variant BRCA-UK 2 61505570 61505570 single base substitution G C exon_variant BRCA-UK 2 61505570 61505570 single base substitution G C intron_variant BRCA-UK 2 61505570 61505570 single base substitution G C synonymous_variant L1755L 5265C>G BRCA-UK 2 61505570 61505570 single base substitution G C synonymous_variant L33L 99C>G BRCA-UK 2 61508311 61508311 single base substitution C G intron_variant BRCA-UK 2 61508311 61508311 single base substitution C G missense_variant D1689H 5065G>C BRCA-UK 2 61508311 61508311 single base substitution C G upstream_gene_variant BRCA-UK 2 61513691 61513691 single base substitution G T intron_variant BRCA-UK 2 61531284 61531311 deletion of <=200bp TGGCCTCAAAGCCTTGGGATTACAGGCA - intron_variant BRCA-UK 2 61531284 61531311 deletion of <=200bp TGGCCTCAAAGCCTTGGGATTACAGGCA - upstream_gene_variant BRCA-UK 2 61534057 61534057 single base substitution C A intron_variant BRCA-UK 2 61535098 61535098 single base substitution C T intron_variant BRCA-UK 2 61538924 61538924 single base substitution C G missense_variant D1222H 3664G>C BRCA-UK 2 61569131 61569131 single base substitution C T intron_variant BRCA-UK 2 61570401 61570401 single base substitution C G intron_variant BRCA-UK 2 61571238 61571238 single base substitution C T downstream_gene_variant BRCA-UK 2 61571238 61571238 single base substitution C T intron_variant BRCA-UK 2 61571240 61571240 single base substitution C T downstream_gene_variant BRCA-UK 2 61571240 61571240 single base substitution C T intron_variant BRCA-UK 2 61575390 61575390 single base substitution G T downstream_gene_variant BRCA-UK 2 61575390 61575390 single base substitution G T missense_variant P634T 1900C>A BRCA-UK 2 61575390 61575390 single base substitution G T upstream_gene_variant BRCA-UK 2 61595373 61595373 single base substitution C T intron_variant BRCA-UK 2 61599472 61599472 single base substitution T A intron_variant BRCA-UK 2 61602669 61602669 single base substitution C A intron_variant BRCA-UK 2 61616678 61616678 single base substitution T A intron_variant BRCA-UK 2 61619347 61619347 single base substitution G T intron_variant BRCA-UK 2 61622321 61622321 single base substitution C T intron_variant BRCA-UK 2 61622321 61622321 single base substitution C T missense_variant M200I 600G>A BRCA-UK 2 61626385 61626385 single base substitution G C intron_variant BRCA-UK 2 61638443 61638443 single base substitution G C intron_variant BRCA-UK 2 61639759 61639759 single base substitution C T intron_variant BRCA-UK 2 61688993 61688993 single base substitution G C intron_variant BRCA-US 2 61416190 61416190 single base substitution G C downstream_gene_variant BRCA-US 2 61416190 61416190 single base substitution G C exon_variant BRCA-US 2 61416190 61416190 single base substitution G C synonymous_variant L174L 522C>G BRCA-US 2 61416190 61416190 single base substitution G C synonymous_variant L3296L 9888C>G BRCA-US 2 61416190 61416190 single base substitution G C synonymous_variant L972L 2916C>G BRCA-US 2 61417673 61417673 single base substitution T C downstream_gene_variant BRCA-US 2 61417673 61417673 single base substitution T C exon_variant BRCA-US 2 61417673 61417673 single base substitution T C missense_variant M115V 343A>G BRCA-US 2 61417673 61417673 single base substitution T C missense_variant M3237V 9709A>G BRCA-US 2 61417673 61417673 single base substitution T C missense_variant M913V 2737A>G BRCA-US 2 61417673 61417673 single base substitution T C upstream_gene_variant BRCA-US 2 61430400 61430400 single base substitution T C downstream_gene_variant BRCA-US 2 61430400 61430400 single base substitution T C intron_variant BRCA-US 2 61430400 61430400 single base substitution T C splice_acceptor_variant BRCA-US 2 61431727 61431727 single base substitution T C downstream_gene_variant BRCA-US 2 61431727 61431727 single base substitution T C exon_variant BRCA-US 2 61431727 61431727 single base substitution T C missense_variant K3055R 9164A>G BRCA-US 2 61431727 61431727 single base substitution T C missense_variant K814R 2441A>G BRCA-US 2 61431727 61431727 single base substitution T C upstream_gene_variant BRCA-US 2 61441300 61441300 single base substitution C T downstream_gene_variant BRCA-US 2 61441300 61441300 single base substitution C T exon_variant BRCA-US 2 61441300 61441300 single base substitution C T intron_variant BRCA-US 2 61441300 61441300 single base substitution C T synonymous_variant R2859R 8577G>A BRCA-US 2 61441300 61441300 single base substitution C T synonymous_variant R618R 1854G>A BRCA-US 2 61456055 61456055 single base substitution T C exon_variant BRCA-US 2 61456055 61456055 single base substitution T C intron_variant BRCA-US 2 61456055 61456055 single base substitution T C synonymous_variant L184L 552A>G BRCA-US 2 61456055 61456055 single base substitution T C synonymous_variant L2425L 7275A>G BRCA-US 2 61456055 61456055 single base substitution T C synonymous_variant L703L 2109A>G BRCA-US 2 61456067 61456067 single base substitution C T exon_variant BRCA-US 2 61456067 61456067 single base substitution C T intron_variant BRCA-US 2 61456067 61456067 single base substitution C T synonymous_variant V180V 540G>A BRCA-US 2 61456067 61456067 single base substitution C T synonymous_variant V2421V 7263G>A BRCA-US 2 61456067 61456067 single base substitution C T synonymous_variant V699V 2097G>A BRCA-US 2 61468708 61468708 single base substitution G A exon_variant BRCA-US 2 61468708 61468708 single base substitution G A intron_variant BRCA-US 2 61468708 61468708 single base substitution G A missense_variant S14L 41C>T BRCA-US 2 61468708 61468708 single base substitution G A missense_variant S2255L 6764C>T BRCA-US 2 61468708 61468708 single base substitution G A missense_variant S533L 1598C>T BRCA-US 2 61468772 61468772 single base substitution G A exon_variant BRCA-US 2 61468772 61468772 single base substitution G A intron_variant BRCA-US 2 61468772 61468772 single base substitution G A synonymous_variant L2234L 6700C>T BRCA-US 2 61468772 61468772 single base substitution G A synonymous_variant L512L 1534C>T BRCA-US 2 61468772 61468772 single base substitution G A upstream_gene_variant BRCA-US 2 61472411 61472411 single base substitution A T exon_variant BRCA-US 2 61472411 61472411 single base substitution A T intron_variant BRCA-US 2 61472411 61472411 single base substitution A T missense_variant N2187K 6561T>A BRCA-US 2 61472411 61472411 single base substitution A T missense_variant N465K 1395T>A BRCA-US 2 61472411 61472411 single base substitution A T upstream_gene_variant BRCA-US 2 61473500 61473500 single base substitution G A exon_variant BRCA-US 2 61473500 61473500 single base substitution G A intron_variant BRCA-US 2 61473500 61473500 single base substitution G A synonymous_variant I2169I 6507C>T BRCA-US 2 61473500 61473500 single base substitution G A synonymous_variant I447I 1341C>T BRCA-US 2 61473500 61473500 single base substitution G A upstream_gene_variant BRCA-US 2 61475692 61475692 single base substitution C T exon_variant BRCA-US 2 61475692 61475692 single base substitution C T intron_variant BRCA-US 2 61475692 61475692 single base substitution C T synonymous_variant T2116T 6348G>A BRCA-US 2 61475692 61475692 single base substitution C T synonymous_variant T394T 1182G>A BRCA-US 2 61484057 61484057 single base substitution T C intron_variant BRCA-US 2 61484057 61484057 single base substitution T C missense_variant E2026G 6077A>G BRCA-US 2 61484057 61484057 single base substitution T C missense_variant E304G 911A>G BRCA-US 2 61484057 61484057 single base substitution T C upstream_gene_variant BRCA-US 2 61492568 61492568 single base substitution C T downstream_gene_variant BRCA-US 2 61492568 61492568 single base substitution C T exon_variant BRCA-US 2 61492568 61492568 single base substitution C T intron_variant BRCA-US 2 61492568 61492568 single base substitution C T missense_variant M1914I 5742G>A BRCA-US 2 61492568 61492568 single base substitution C T missense_variant M192I 576G>A BRCA-US 2 61492665 61492665 single base substitution C T downstream_gene_variant BRCA-US 2 61492665 61492665 single base substitution C T exon_variant BRCA-US 2 61492665 61492665 single base substitution C T intron_variant BRCA-US 2 61492665 61492665 single base substitution C T stop_gained W160* 479G>A BRCA-US 2 61492665 61492665 single base substitution C T stop_gained W1882* 5645G>A BRCA-US 2 61492669 61492669 single base substitution A G downstream_gene_variant BRCA-US 2 61492669 61492669 single base substitution A G exon_variant BRCA-US 2 61492669 61492669 single base substitution A G intron_variant BRCA-US 2 61492669 61492669 single base substitution A G missense_variant Y159H 475T>C BRCA-US 2 61492669 61492669 single base substitution A G missense_variant Y1881H 5641T>C BRCA-US 2 61505421 61505421 single base substitution C A intron_variant BRCA-US 2 61505421 61505421 single base substitution C A splice_acceptor_variant BRCA-US 2 61515816 61515816 single base substitution G A intron_variant BRCA-US 2 61515816 61515816 single base substitution G A missense_variant T1582I 4745C>T BRCA-US 2 61515928 61515928 single base substitution C T intron_variant BRCA-US 2 61515928 61515928 single base substitution C T missense_variant D1545N 4633G>A BRCA-US 2 61515958 61515958 single base substitution C G intron_variant BRCA-US 2 61515958 61515958 single base substitution C G missense_variant D1535H 4603G>C BRCA-US 2 61520625 61520625 single base substitution G C intron_variant BRCA-US 2 61520625 61520625 single base substitution G C missense_variant P1508A 4522C>G BRCA-US 2 61528234 61528234 single base substitution G T missense_variant P1327Q 3980C>A BRCA-US 2 61528234 61528234 single base substitution G T upstream_gene_variant BRCA-US 2 61571086 61571086 insertion of <=200bp - T downstream_gene_variant BRCA-US 2 61571086 61571086 insertion of <=200bp - T exon_variant BRCA-US 2 61571086 61571086 insertion of <=200bp - T frameshift_variant N788N? BRCA-US 2 61575105 61575105 single base substitution A G downstream_gene_variant BRCA-US 2 61575105 61575105 single base substitution A G exon_variant BRCA-US 2 61575105 61575105 single base substitution A G missense_variant F729L 2185T>C BRCA-US 2 61575404 61575404 single base substitution T C downstream_gene_variant BRCA-US 2 61575404 61575404 single base substitution T C missense_variant H629R 1886A>G BRCA-US 2 61575404 61575404 single base substitution T C upstream_gene_variant BRCA-US 2 61577399 61577399 single base substitution C A 3_prime_UTR_variant BRCA-US 2 61577399 61577399 single base substitution C A missense_variant K501N 1503G>T BRCA-US 2 61577399 61577399 single base substitution C A upstream_gene_variant BRCA-US 2 61607496 61607496 single base substitution C A missense_variant R274S 822G>T BRCA-US 2 61607496 61607496 single base substitution C A splice_region_variant BRCA-US 2 61622023 61622023 single base substitution G T 3_prime_UTR_variant BRCA-US 2 61622023 61622023 single base substitution G T missense_variant L240I 718C>A BRCA-US 2 61622053 61622053 single base substitution C G 3_prime_UTR_variant BRCA-US 2 61622053 61622053 single base substitution C G missense_variant E230Q 688G>C BRCA-US 2 61622132 61622132 single base substitution T C exon_variant BRCA-US 2 61622132 61622132 single base substitution T C synonymous_variant V203V 609A>G BRCA-US 2 61622358 61622359 deletion of <=200bp GT - frameshift_variant T188 BRCA-US 2 61622358 61622359 deletion of <=200bp GT - intron_variant BRCA-US 2 61633109 61633109 single base substitution C T intron_variant BRCA-US 2 61633109 61633109 single base substitution C T missense_variant D96N 286G>A BTCA-JP 2 61417851 61417851 single base substitution G A exon_variant BTCA-JP 2 61417851 61417851 single base substitution G A intron_variant BTCA-JP 2 61417851 61417851 single base substitution G A upstream_gene_variant BTCA-JP 2 61450236 61450236 single base substitution T C downstream_gene_variant BTCA-JP 2 61450236 61450236 single base substitution T C exon_variant BTCA-JP 2 61450236 61450236 single base substitution T C intron_variant BTCA-JP 2 61450236 61450236 single base substitution T C missense_variant I2570V 7708A>G BTCA-JP 2 61450236 61450236 single base substitution T C missense_variant I329V 985A>G BTCA-JP 2 61450236 61450236 single base substitution T C upstream_gene_variant BTCA-JP 2 61450425 61450425 single base substitution C G downstream_gene_variant BTCA-JP 2 61450425 61450425 single base substitution C G exon_variant BTCA-JP 2 61450425 61450425 single base substitution C G intron_variant BTCA-JP 2 61450425 61450425 single base substitution C G missense_variant L2534F 7602G>C BTCA-JP 2 61450425 61450425 single base substitution C G missense_variant L293F 879G>C BTCA-JP 2 61450425 61450425 single base substitution C G upstream_gene_variant BTCA-JP 2 61459673 61459673 deletion of <=200bp A - intron_variant BTCA-JP 2 61459673 61459673 deletion of <=200bp A - splice_region_variant BTCA-JP 2 61473472 61473472 single base substitution T C exon_variant BTCA-JP 2 61473472 61473472 single base substitution T C intron_variant BTCA-JP 2 61473472 61473472 single base substitution T C missense_variant K2179E 6535A>G BTCA-JP 2 61473472 61473472 single base substitution T C missense_variant K457E 1369A>G BTCA-JP 2 61473472 61473472 single base substitution T C upstream_gene_variant BTCA-JP 2 61475750 61475750 single base substitution G A exon_variant BTCA-JP 2 61475750 61475750 single base substitution G A intron_variant BTCA-JP 2 61475750 61475750 single base substitution G A missense_variant T2097M 6290C>T BTCA-JP 2 61475750 61475750 single base substitution G A missense_variant T375M 1124C>T BTCA-JP 2 61483716 61483716 single base substitution T A intron_variant BTCA-JP 2 61492720 61492720 insertion of <=200bp - C exon_variant BTCA-JP 2 61492720 61492720 insertion of <=200bp - C intron_variant BTCA-JP 2 61528048 61528048 single base substitution G A intron_variant BTCA-JP 2 61528306 61528306 single base substitution C A intron_variant BTCA-JP 2 61528306 61528306 single base substitution C A upstream_gene_variant BTCA-JP 2 61538615 61538615 single base substitution G A intron_variant BTCA-JP 2 61571087 61571087 single base substitution T C downstream_gene_variant BTCA-JP 2 61571087 61571087 single base substitution T C exon_variant BTCA-JP 2 61571087 61571087 single base substitution T C missense_variant N788S 2363A>G BTCA-JP 2 61574961 61574961 single base substitution C T downstream_gene_variant BTCA-JP 2 61574961 61574961 single base substitution C T intron_variant BTCA-JP 2 61577527 61577527 deletion of <=200bp A - splice_region_variant BTCA-JP 2 61577527 61577527 deletion of <=200bp A - upstream_gene_variant BTCA-JP 2 61607477 61607477 single base substitution C T 3_prime_UTR_variant BTCA-JP 2 61607477 61607477 single base substitution C T missense_variant D281N 841G>A BTCA-JP 2 61622215 61622215 single base substitution G A intron_variant BTCA-JP 2 61622375 61622375 deletion of <=200bp A - intron_variant BTCA-JP 2 61622375 61622375 deletion of <=200bp A - splice_region_variant BTCA-JP 2 61633273 61633273 deletion of <=200bp A - intron_variant BTCA-JP 2 61649087 61649087 deletion of <=200bp A - intron_variant CESC-US 2 61413945 61413945 single base substitution A G downstream_gene_variant CESC-US 2 61436045 61436045 single base substitution G T exon_variant CESC-US 2 61436045 61436045 single base substitution G T missense_variant L2970I 8908C>A CESC-US 2 61436045 61436045 single base substitution G T missense_variant L729I 2185C>A CESC-US 2 61436045 61436045 single base substitution G T upstream_gene_variant CESC-US 2 61493135 61493135 single base substitution C T exon_variant CESC-US 2 61493135 61493135 single base substitution C T intron_variant CESC-US 2 61493135 61493135 single base substitution C T missense_variant M145I 435G>A CESC-US 2 61493135 61493135 single base substitution C T missense_variant M1867I 5601G>A CESC-US 2 61493167 61493167 single base substitution C T exon_variant CESC-US 2 61493167 61493167 single base substitution C T intron_variant CESC-US 2 61493167 61493167 single base substitution C T missense_variant E135K 403G>A CESC-US 2 61493167 61493167 single base substitution C T missense_variant E1857K 5569G>A CESC-US 2 61505365 61505365 single base substitution G T exon_variant CESC-US 2 61505365 61505365 single base substitution G T intron_variant CESC-US 2 61505365 61505365 single base substitution G T missense_variant L1790I 5368C>A CESC-US 2 61505365 61505365 single base substitution G T missense_variant L68I 202C>A CESC-US 2 61510366 61510366 single base substitution G T intron_variant CESC-US 2 61510366 61510366 single base substitution G T missense_variant H1638N 4912C>A CESC-US 2 61510366 61510366 single base substitution G T upstream_gene_variant CESC-US 2 61520659 61520659 single base substitution C G intron_variant CESC-US 2 61520659 61520659 single base substitution C G missense_variant Q1496H 4488G>C CESC-US 2 61561086 61561086 single base substitution C T missense_variant R922H 2765G>A CESC-US 2 61575399 61575399 single base substitution G C downstream_gene_variant CESC-US 2 61575399 61575399 single base substitution G C missense_variant H631D 1891C>G CESC-US 2 61575399 61575399 single base substitution G C upstream_gene_variant CESC-US 2 61647956 61647956 single base substitution T C exon_variant CESC-US 2 61647956 61647956 single base substitution T C missense_variant E19G 56A>G CLLE-ES 2 61453490 61453490 single base substitution C T downstream_gene_variant CLLE-ES 2 61453490 61453490 single base substitution C T intron_variant CLLE-ES 2 61453490 61453490 single base substitution C T upstream_gene_variant CLLE-ES 2 61454876 61454876 single base substitution A C intron_variant CLLE-ES 2 61454876 61454876 single base substitution A C upstream_gene_variant CLLE-ES 2 61460978 61460978 single base substitution T G intron_variant CLLE-ES 2 61497568 61497568 single base substitution C A intron_variant CLLE-ES 2 61497568 61497568 single base substitution C A upstream_gene_variant CLLE-ES 2 61541311 61541311 single base substitution A G intron_variant CLLE-ES 2 61541433 61541433 single base substitution T C intron_variant CLLE-ES 2 61546580 61546580 single base substitution G A intron_variant CLLE-ES 2 61564327 61564327 single base substitution T C downstream_gene_variant CLLE-ES 2 61564327 61564327 single base substitution T C intron_variant CLLE-ES 2 61567003 61567003 single base substitution C A intron_variant CLLE-ES 2 61605443 61605443 single base substitution A G intron_variant CLLE-ES 2 61615102 61615102 insertion of <=200bp - AA intron_variant CLLE-ES 2 61632878 61632878 single base substitution T A intron_variant CLLE-ES 2 61632878 61632878 single base substitution T A missense_variant T173S 517A>T CLLE-ES 2 61635547 61635547 single base substitution T C intron_variant CLLE-ES 2 61679712 61679712 single base substitution C G intron_variant CLLE-ES 2 61688167 61688167 single base substitution T C intron_variant COAD-US 2 61417459 61417459 single base substitution A G downstream_gene_variant COAD-US 2 61417459 61417459 single base substitution A G exon_variant COAD-US 2 61417459 61417459 single base substitution A G missense_variant S152P 454T>C COAD-US 2 61417459 61417459 single base substitution A G missense_variant S3274P 9820T>C COAD-US 2 61417459 61417459 single base substitution A G missense_variant S950P 2848T>C COAD-US 2 61417459 61417459 single base substitution A G upstream_gene_variant COAD-US 2 61417699 61417699 deletion of <=200bp A - downstream_gene_variant COAD-US 2 61417699 61417699 deletion of <=200bp A - exon_variant COAD-US 2 61417699 61417699 deletion of <=200bp A - frameshift_variant L106 COAD-US 2 61417699 61417699 deletion of <=200bp A - frameshift_variant L3228 COAD-US 2 61417699 61417699 deletion of <=200bp A - frameshift_variant L904 COAD-US 2 61417699 61417699 deletion of <=200bp A - upstream_gene_variant COAD-US 2 61441606 61441606 single base substitution G C downstream_gene_variant COAD-US 2 61441606 61441606 single base substitution G C intron_variant COAD-US 2 61441606 61441606 single base substitution G C missense_variant S2757R 8271C>G COAD-US 2 61441606 61441606 single base substitution G C missense_variant S516R 1548C>G COAD-US 2 61447487 61447487 single base substitution C T downstream_gene_variant COAD-US 2 61447487 61447487 single base substitution C T exon_variant COAD-US 2 61447487 61447487 single base substitution C T missense_variant E2669K 8005G>A COAD-US 2 61447487 61447487 single base substitution C T missense_variant E428K 1282G>A COAD-US 2 61450271 61450271 single base substitution C T downstream_gene_variant COAD-US 2 61450271 61450271 single base substitution C T exon_variant COAD-US 2 61450271 61450271 single base substitution C T intron_variant COAD-US 2 61450271 61450271 single base substitution C T missense_variant R2558H 7673G>A COAD-US 2 61450271 61450271 single base substitution C T missense_variant R317H 950G>A COAD-US 2 61450271 61450271 single base substitution C T upstream_gene_variant COAD-US 2 61454310 61454312 deletion of <=200bp TCT - disruptive_inframe_deletion EE2495E COAD-US 2 61454310 61454312 deletion of <=200bp TCT - disruptive_inframe_deletion EE254E COAD-US 2 61454310 61454312 deletion of <=200bp TCT - disruptive_inframe_deletion EE773E COAD-US 2 61454310 61454312 deletion of <=200bp TCT - exon_variant COAD-US 2 61454310 61454312 deletion of <=200bp TCT - intron_variant COAD-US 2 61454310 61454312 deletion of <=200bp TCT - upstream_gene_variant COAD-US 2 61468720 61468720 single base substitution A C exon_variant COAD-US 2 61468720 61468720 single base substitution A C intron_variant COAD-US 2 61468720 61468720 single base substitution A C missense_variant F10C 29T>G COAD-US 2 61468720 61468720 single base substitution A C missense_variant F2251C 6752T>G COAD-US 2 61468720 61468720 single base substitution A C missense_variant F529C 1586T>G COAD-US 2 61468761 61468761 single base substitution T C exon_variant COAD-US 2 61468761 61468761 single base substitution T C intron_variant COAD-US 2 61468761 61468761 single base substitution T C synonymous_variant K2237K 6711A>G COAD-US 2 61468761 61468761 single base substitution T C synonymous_variant K515K 1545A>G COAD-US 2 61468761 61468761 single base substitution T C upstream_gene_variant COAD-US 2 61484360 61484360 single base substitution G A intron_variant COAD-US 2 61484360 61484360 single base substitution G A synonymous_variant I1990I 5970C>T COAD-US 2 61484360 61484360 single base substitution G A synonymous_variant I268I 804C>T COAD-US 2 61484360 61484360 single base substitution G A upstream_gene_variant COAD-US 2 61492608 61492608 single base substitution G T downstream_gene_variant COAD-US 2 61492608 61492608 single base substitution G T exon_variant COAD-US 2 61492608 61492608 single base substitution G T intron_variant COAD-US 2 61492608 61492608 single base substitution G T missense_variant A179D 536C>A COAD-US 2 61492608 61492608 single base substitution G T missense_variant A1901D 5702C>A COAD-US 2 61493271 61493271 single base substitution A C exon_variant COAD-US 2 61493271 61493271 single base substitution A C intron_variant COAD-US 2 61493271 61493271 single base substitution A C missense_variant F100C 299T>G COAD-US 2 61493271 61493271 single base substitution A C missense_variant F1822C 5465T>G COAD-US 2 61493271 61493271 single base substitution A C upstream_gene_variant COAD-US 2 61520675 61520675 single base substitution G A intron_variant COAD-US 2 61520675 61520675 single base substitution G A missense_variant A1491V 4472C>T COAD-US 2 61522099 61522099 insertion of <=200bp - T frameshift_variant N1482N? COAD-US 2 61522099 61522099 insertion of <=200bp - T intron_variant COAD-US 2 61558470 61558470 single base substitution G T missense_variant F957L 2871C>A COAD-US 2 61570980 61570980 single base substitution C T downstream_gene_variant COAD-US 2 61570980 61570980 single base substitution C T exon_variant COAD-US 2 61570980 61570980 single base substitution C T missense_variant A824T 2470G>A COAD-US 2 61571056 61571056 single base substitution T A downstream_gene_variant COAD-US 2 61571056 61571056 single base substitution T A exon_variant COAD-US 2 61571056 61571056 single base substitution T A synonymous_variant G798G 2394A>T COAD-US 2 61575066 61575066 single base substitution G A downstream_gene_variant COAD-US 2 61575066 61575066 single base substitution G A exon_variant COAD-US 2 61575066 61575066 single base substitution G A stop_gained R742* 2224C>T COAD-US 2 61575186 61575186 single base substitution C T downstream_gene_variant COAD-US 2 61575186 61575186 single base substitution C T missense_variant E702K 2104G>A COAD-US 2 61575186 61575186 single base substitution C T upstream_gene_variant COAD-US 2 61576404 61576404 single base substitution T G 3_prime_UTR_variant COAD-US 2 61576404 61576404 single base substitution T G missense_variant R508S 1524A>C COAD-US 2 61576404 61576404 single base substitution T G upstream_gene_variant COAD-US 2 61597520 61597520 single base substitution T A 3_prime_UTR_variant COAD-US 2 61597520 61597520 single base substitution T A missense_variant N396I 1187A>T COAD-US 2 61610471 61610471 single base substitution T A missense_variant I252F 754A>T COAD-US 2 61610471 61610471 single base substitution T A splice_region_variant COAD-US 2 61622109 61622109 single base substitution C T 3_prime_UTR_variant COAD-US 2 61622109 61622109 single base substitution C T missense_variant R211H 632G>A COAD-US 2 61633020 61633020 deletion of <=200bp T - frameshift_variant K125 COAD-US 2 61633020 61633020 deletion of <=200bp T - intron_variant COCA-CN 2 61411938 61411938 single base substitution A G downstream_gene_variant COCA-CN 2 61412559 61412559 single base substitution C T downstream_gene_variant COCA-CN 2 61415095 61415095 single base substitution G T 3_prime_UTR_variant COCA-CN 2 61415095 61415095 single base substitution G T downstream_gene_variant COCA-CN 2 61415279 61415279 single base substitution G A downstream_gene_variant COCA-CN 2 61415279 61415279 single base substitution G A synonymous_variant V1209V 3627C>T COCA-CN 2 61415279 61415279 single base substitution G A synonymous_variant V3533V 10599C>T COCA-CN 2 61415279 61415279 single base substitution G A synonymous_variant V411V 1233C>T COCA-CN 2 61415345 61415345 single base substitution A G downstream_gene_variant COCA-CN 2 61415345 61415345 single base substitution A G synonymous_variant F1187F 3561T>C COCA-CN 2 61415345 61415345 single base substitution A G synonymous_variant F3511F 10533T>C COCA-CN 2 61415345 61415345 single base substitution A G synonymous_variant F389F 1167T>C COCA-CN 2 61415632 61415632 single base substitution G A downstream_gene_variant COCA-CN 2 61415632 61415632 single base substitution G A exon_variant COCA-CN 2 61415632 61415632 single base substitution G A stop_gained R1092* 3274C>T COCA-CN 2 61415632 61415632 single base substitution G A stop_gained R294* 880C>T COCA-CN 2 61415632 61415632 single base substitution G A stop_gained R3416* 10246C>T COCA-CN 2 61415921 61415921 single base substitution A C downstream_gene_variant COCA-CN 2 61415921 61415921 single base substitution A C intron_variant COCA-CN 2 61420019 61420019 single base substitution A C intron_variant COCA-CN 2 61420019 61420019 single base substitution A C upstream_gene_variant COCA-CN 2 61420130 61420130 single base substitution G T exon_variant COCA-CN 2 61420130 61420130 single base substitution G T intron_variant COCA-CN 2 61420130 61420130 single base substitution G T upstream_gene_variant COCA-CN 2 61430311 61430311 single base substitution T C downstream_gene_variant COCA-CN 2 61430311 61430311 single base substitution T C exon_variant COCA-CN 2 61430311 61430311 single base substitution T C intron_variant COCA-CN 2 61430311 61430311 single base substitution T C missense_variant N3158D 9472A>G COCA-CN 2 61430311 61430311 single base substitution T C missense_variant N36D 106A>G COCA-CN 2 61431449 61431449 single base substitution C T downstream_gene_variant COCA-CN 2 61431449 61431449 single base substitution C T exon_variant COCA-CN 2 61431449 61431449 single base substitution C T intron_variant COCA-CN 2 61431449 61431449 single base substitution C T missense_variant R3109Q 9326G>A COCA-CN 2 61431449 61431449 single base substitution C T missense_variant R6Q 17G>A COCA-CN 2 61450454 61450454 single base substitution A G downstream_gene_variant COCA-CN 2 61450454 61450454 single base substitution A G exon_variant COCA-CN 2 61450454 61450454 single base substitution A G intron_variant COCA-CN 2 61450454 61450454 single base substitution A G upstream_gene_variant COCA-CN 2 61455716 61455716 single base substitution C T intron_variant COCA-CN 2 61455716 61455716 single base substitution C T upstream_gene_variant COCA-CN 2 61456609 61456609 single base substitution A C intron_variant COCA-CN 2 61456611 61456611 single base substitution C A intron_variant COCA-CN 2 61456654 61456654 single base substitution C A intron_variant COCA-CN 2 61463368 61463368 single base substitution A C exon_variant COCA-CN 2 61463368 61463368 single base substitution A C intron_variant COCA-CN 2 61463368 61463368 single base substitution A C missense_variant F2282L 6846T>G COCA-CN 2 61463368 61463368 single base substitution A C missense_variant F41L 123T>G COCA-CN 2 61463368 61463368 single base substitution A C missense_variant F560L 1680T>G COCA-CN 2 61463375 61463375 single base substitution G T exon_variant COCA-CN 2 61463375 61463375 single base substitution G T intron_variant COCA-CN 2 61463375 61463375 single base substitution G T splice_region_variant COCA-CN 2 61468812 61468812 single base substitution T A intron_variant COCA-CN 2 61468812 61468812 single base substitution T A upstream_gene_variant COCA-CN 2 61473531 61473531 single base substitution G A exon_variant COCA-CN 2 61473531 61473531 single base substitution G A intron_variant COCA-CN 2 61473531 61473531 single base substitution G A missense_variant T2159M 6476C>T COCA-CN 2 61473531 61473531 single base substitution G A missense_variant T437M 1310C>T COCA-CN 2 61473531 61473531 single base substitution G A upstream_gene_variant COCA-CN 2 61486925 61486925 single base substitution G A intron_variant COCA-CN 2 61486925 61486925 single base substitution G A upstream_gene_variant COCA-CN 2 61492717 61492717 single base substitution G T downstream_gene_variant COCA-CN 2 61492717 61492717 single base substitution G T intron_variant COCA-CN 2 61505316 61505316 single base substitution A C exon_variant COCA-CN 2 61505316 61505316 single base substitution A C intron_variant COCA-CN 2 61505316 61505316 single base substitution A C missense_variant F1806C 5417T>G COCA-CN 2 61505316 61505316 single base substitution A C missense_variant F84C 251T>G COCA-CN 2 61516026 61516026 single base substitution G T intron_variant COCA-CN 2 61516069 61516069 single base substitution A C intron_variant COCA-CN 2 61516089 61516089 single base substitution G T intron_variant COCA-CN 2 61528258 61528258 single base substitution C T missense_variant R1319Q 3956G>A COCA-CN 2 61528258 61528258 single base substitution C T upstream_gene_variant COCA-CN 2 61528306 61528306 single base substitution C A intron_variant COCA-CN 2 61528306 61528306 single base substitution C A upstream_gene_variant COCA-CN 2 61528307 61528307 single base substitution A C intron_variant COCA-CN 2 61528307 61528307 single base substitution A C upstream_gene_variant COCA-CN 2 61528308 61528308 single base substitution G A intron_variant COCA-CN 2 61528308 61528308 single base substitution G A upstream_gene_variant COCA-CN 2 61528310 61528310 single base substitution A G intron_variant COCA-CN 2 61528310 61528310 single base substitution A G upstream_gene_variant COCA-CN 2 61538584 61538584 single base substitution T A intron_variant COCA-CN 2 61538594 61538594 single base substitution G A intron_variant COCA-CN 2 61538995 61538995 single base substitution C T missense_variant S1198N 3593G>A COCA-CN 2 61544729 61544729 single base substitution G A intron_variant COCA-CN 2 61552484 61552484 single base substitution T A intron_variant COCA-CN 2 61576022 61576022 single base substitution C A splice_acceptor_variant COCA-CN 2 61576022 61576022 single base substitution C A upstream_gene_variant COCA-CN 2 61576303 61576303 single base substitution T A intron_variant COCA-CN 2 61576303 61576303 single base substitution T A upstream_gene_variant COCA-CN 2 61577643 61577643 single base substitution C A intron_variant COCA-CN 2 61577643 61577643 single base substitution C A upstream_gene_variant COCA-CN 2 61607541 61607541 single base substitution A C intron_variant COCA-CN 2 61622495 61622496 multiple base substitution (>=2bp and <=200bp) GC CA intron_variant COCA-CN 2 61641131 61641131 single base substitution A G intron_variant COCA-CN 2 61647830 61647830 single base substitution T G intron_variant COCA-CN 2 61649101 61649101 single base substitution T G intron_variant EOPC-DE 2 61414650 61414650 single base substitution A G 3_prime_UTR_variant EOPC-DE 2 61414650 61414650 single base substitution A G downstream_gene_variant EOPC-DE 2 61475361 61475361 single base substitution A T intron_variant EOPC-DE 2 61574879 61574879 single base substitution C T downstream_gene_variant EOPC-DE 2 61574879 61574879 single base substitution C T intron_variant EOPC-DE 2 61656971 61656971 single base substitution C T intron_variant EOPC-DE 2 61656992 61656992 single base substitution T A intron_variant ESAD-UK 2 61411099 61411099 single base substitution A C downstream_gene_variant ESAD-UK 2 61412185 61412185 single base substitution G C downstream_gene_variant ESAD-UK 2 61412946 61412946 single base substitution C T downstream_gene_variant ESAD-UK 2 61413352 61413352 single base substitution T C downstream_gene_variant ESAD-UK 2 61417648 61417648 single base substitution C T downstream_gene_variant ESAD-UK 2 61417648 61417648 single base substitution C T intron_variant ESAD-UK 2 61417648 61417648 single base substitution C T splice_region_variant ESAD-UK 2 61417648 61417648 single base substitution C T upstream_gene_variant ESAD-UK 2 61418526 61418526 insertion of <=200bp - TA intron_variant ESAD-UK 2 61418526 61418526 insertion of <=200bp - TA upstream_gene_variant ESAD-UK 2 61418582 61418582 single base substitution A C intron_variant ESAD-UK 2 61418582 61418582 single base substitution A C upstream_gene_variant ESAD-UK 2 61420762 61420762 single base substitution C T intron_variant ESAD-UK 2 61420762 61420762 single base substitution C T upstream_gene_variant ESAD-UK 2 61428959 61428959 single base substitution A T downstream_gene_variant ESAD-UK 2 61428959 61428959 single base substitution A T intron_variant ESAD-UK 2 61429569 61429569 single base substitution G A downstream_gene_variant ESAD-UK 2 61429569 61429569 single base substitution G A intron_variant ESAD-UK 2 61434814 61434814 single base substitution A T downstream_gene_variant ESAD-UK 2 61434814 61434814 single base substitution A T exon_variant ESAD-UK 2 61434814 61434814 single base substitution A T intron_variant ESAD-UK 2 61434814 61434814 single base substitution A T upstream_gene_variant ESAD-UK 2 61435575 61435575 single base substitution G A downstream_gene_variant ESAD-UK 2 61435575 61435575 single base substitution G A exon_variant ESAD-UK 2 61435575 61435575 single base substitution G A intron_variant ESAD-UK 2 61435575 61435575 single base substitution G A upstream_gene_variant ESAD-UK 2 61436330 61436330 single base substitution T C intron_variant ESAD-UK 2 61436330 61436330 single base substitution T C upstream_gene_variant ESAD-UK 2 61436512 61436512 deletion of <=200bp A - intron_variant ESAD-UK 2 61436518 61436518 single base substitution G A intron_variant ESAD-UK 2 61438310 61438310 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 61438310 61438310 deletion of <=200bp A - intron_variant ESAD-UK 2 61442565 61442565 single base substitution T G downstream_gene_variant ESAD-UK 2 61442565 61442565 single base substitution T G intron_variant ESAD-UK 2 61442565 61442565 single base substitution T G upstream_gene_variant ESAD-UK 2 61445089 61445089 single base substitution C T downstream_gene_variant ESAD-UK 2 61445089 61445089 single base substitution C T intron_variant ESAD-UK 2 61445089 61445089 single base substitution C T upstream_gene_variant ESAD-UK 2 61447416 61447416 single base substitution G A downstream_gene_variant ESAD-UK 2 61447416 61447416 single base substitution G A exon_variant ESAD-UK 2 61447416 61447416 single base substitution G A intron_variant ESAD-UK 2 61447539 61447539 single base substitution G C downstream_gene_variant ESAD-UK 2 61447539 61447539 single base substitution G C exon_variant ESAD-UK 2 61447539 61447539 single base substitution G C synonymous_variant P2651P 7953C>G ESAD-UK 2 61447539 61447539 single base substitution G C synonymous_variant P410P 1230C>G ESAD-UK 2 61447539 61447539 single base substitution G C upstream_gene_variant ESAD-UK 2 61449543 61449543 single base substitution A G downstream_gene_variant ESAD-UK 2 61449543 61449543 single base substitution A G intron_variant ESAD-UK 2 61449543 61449543 single base substitution A G upstream_gene_variant ESAD-UK 2 61453002 61453002 single base substitution C T downstream_gene_variant ESAD-UK 2 61453002 61453002 single base substitution C T intron_variant ESAD-UK 2 61453002 61453002 single base substitution C T upstream_gene_variant ESAD-UK 2 61454881 61454881 single base substitution A C intron_variant ESAD-UK 2 61454881 61454881 single base substitution A C upstream_gene_variant ESAD-UK 2 61455215 61455217 deletion of <=200bp ACA - intron_variant ESAD-UK 2 61455215 61455217 deletion of <=200bp ACA - upstream_gene_variant ESAD-UK 2 61456647 61456647 single base substitution A G intron_variant ESAD-UK 2 61456798 61456798 single base substitution G C intron_variant ESAD-UK 2 61458195 61458195 deletion of <=200bp A - intron_variant ESAD-UK 2 61459722 61459722 single base substitution G T intron_variant ESAD-UK 2 61462922 61462922 insertion of <=200bp - G intron_variant ESAD-UK 2 61463254 61463254 single base substitution G A exon_variant ESAD-UK 2 61463254 61463254 single base substitution G A intron_variant ESAD-UK 2 61464975 61464975 single base substitution G C intron_variant ESAD-UK 2 61465056 61465056 single base substitution A C intron_variant ESAD-UK 2 61465349 61465349 single base substitution A C intron_variant ESAD-UK 2 61465410 61465410 single base substitution G T intron_variant ESAD-UK 2 61468967 61468967 single base substitution A G intron_variant ESAD-UK 2 61468967 61468967 single base substitution A G upstream_gene_variant ESAD-UK 2 61469915 61469915 single base substitution G C intron_variant ESAD-UK 2 61469915 61469915 single base substitution G C upstream_gene_variant ESAD-UK 2 61470223 61470223 single base substitution C A intron_variant ESAD-UK 2 61470223 61470223 single base substitution C A upstream_gene_variant ESAD-UK 2 61470621 61470621 single base substitution A G intron_variant ESAD-UK 2 61470621 61470621 single base substitution A G upstream_gene_variant ESAD-UK 2 61471489 61471489 single base substitution G C intron_variant ESAD-UK 2 61471489 61471489 single base substitution G C upstream_gene_variant ESAD-UK 2 61473070 61473070 single base substitution G A intron_variant ESAD-UK 2 61473070 61473070 single base substitution G A upstream_gene_variant ESAD-UK 2 61473186 61473190 deletion of <=200bp AAGAT - intron_variant ESAD-UK 2 61473186 61473190 deletion of <=200bp AAGAT - upstream_gene_variant ESAD-UK 2 61474457 61474457 single base substitution T A intron_variant ESAD-UK 2 61475851 61475851 insertion of <=200bp - T intron_variant ESAD-UK 2 61476492 61476492 single base substitution C A intron_variant ESAD-UK 2 61477315 61477315 single base substitution T A intron_variant ESAD-UK 2 61477920 61477920 single base substitution C T intron_variant ESAD-UK 2 61481717 61481717 single base substitution C T intron_variant ESAD-UK 2 61481741 61481741 single base substitution A G intron_variant ESAD-UK 2 61482419 61482419 single base substitution T C intron_variant ESAD-UK 2 61482859 61482859 single base substitution A C intron_variant ESAD-UK 2 61487883 61487883 single base substitution C A downstream_gene_variant ESAD-UK 2 61487883 61487883 single base substitution C A intron_variant ESAD-UK 2 61487883 61487883 single base substitution C A upstream_gene_variant ESAD-UK 2 61490703 61490703 single base substitution G A downstream_gene_variant ESAD-UK 2 61490703 61490703 single base substitution G A intron_variant ESAD-UK 2 61491468 61491468 single base substitution G C downstream_gene_variant ESAD-UK 2 61491468 61491468 single base substitution G C intron_variant ESAD-UK 2 61491769 61491769 single base substitution C G downstream_gene_variant ESAD-UK 2 61491769 61491769 single base substitution C G intron_variant ESAD-UK 2 61493247 61493247 single base substitution C T exon_variant ESAD-UK 2 61493247 61493247 single base substitution C T intron_variant ESAD-UK 2 61493247 61493247 single base substitution C T missense_variant R108Q 323G>A ESAD-UK 2 61493247 61493247 single base substitution C T missense_variant R1830Q 5489G>A ESAD-UK 2 61493247 61493247 single base substitution C T upstream_gene_variant ESAD-UK 2 61493540 61493540 single base substitution C T intron_variant ESAD-UK 2 61493540 61493540 single base substitution C T upstream_gene_variant ESAD-UK 2 61494359 61494359 single base substitution C G intron_variant ESAD-UK 2 61494359 61494359 single base substitution C G upstream_gene_variant ESAD-UK 2 61499950 61499950 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 61499950 61499950 insertion of <=200bp - A intron_variant ESAD-UK 2 61500591 61500591 single base substitution T C downstream_gene_variant ESAD-UK 2 61500591 61500591 single base substitution T C intron_variant ESAD-UK 2 61504714 61504714 single base substitution T C downstream_gene_variant ESAD-UK 2 61504714 61504714 single base substitution T C intron_variant ESAD-UK 2 61504771 61504771 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 61504771 61504771 deletion of <=200bp A - intron_variant ESAD-UK 2 61506185 61506185 single base substitution C G intron_variant ESAD-UK 2 61506438 61506438 single base substitution A C intron_variant ESAD-UK 2 61509118 61509122 deletion of <=200bp TTTTG - intron_variant ESAD-UK 2 61509118 61509122 deletion of <=200bp TTTTG - upstream_gene_variant ESAD-UK 2 61513739 61513739 single base substitution G A intron_variant ESAD-UK 2 61516344 61516344 single base substitution A T intron_variant ESAD-UK 2 61519119 61519119 deletion of <=200bp A - intron_variant ESAD-UK 2 61519879 61519879 single base substitution G C intron_variant ESAD-UK 2 61520450 61520450 single base substitution T C intron_variant ESAD-UK 2 61522989 61522989 single base substitution A G intron_variant ESAD-UK 2 61523140 61523140 single base substitution T C intron_variant ESAD-UK 2 61523739 61523739 single base substitution C A intron_variant ESAD-UK 2 61525067 61525067 single base substitution G A intron_variant ESAD-UK 2 61526024 61526024 single base substitution T C intron_variant ESAD-UK 2 61528310 61528310 deletion of <=200bp A - intron_variant ESAD-UK 2 61528310 61528310 deletion of <=200bp A - upstream_gene_variant ESAD-UK 2 61529571 61529571 deletion of <=200bp T - intron_variant ESAD-UK 2 61529571 61529571 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 61529685 61529685 single base substitution C A intron_variant ESAD-UK 2 61529685 61529685 single base substitution C A upstream_gene_variant ESAD-UK 2 61531683 61531683 single base substitution G A intron_variant ESAD-UK 2 61531683 61531683 single base substitution G A upstream_gene_variant ESAD-UK 2 61531946 61531947 deletion of <=200bp AA - intron_variant ESAD-UK 2 61531946 61531947 deletion of <=200bp AA - upstream_gene_variant ESAD-UK 2 61531982 61531982 single base substitution G C intron_variant ESAD-UK 2 61531982 61531982 single base substitution G C upstream_gene_variant ESAD-UK 2 61532921 61532921 single base substitution T C intron_variant ESAD-UK 2 61532921 61532921 single base substitution T C upstream_gene_variant ESAD-UK 2 61534596 61534596 single base substitution A T intron_variant ESAD-UK 2 61535184 61535184 insertion of <=200bp - A intron_variant ESAD-UK 2 61535391 61535391 deletion of <=200bp A - intron_variant ESAD-UK 2 61536446 61536446 single base substitution C T intron_variant ESAD-UK 2 61541164 61541164 single base substitution T G intron_variant ESAD-UK 2 61543491 61543491 single base substitution G A intron_variant ESAD-UK 2 61543548 61543548 single base substitution C A intron_variant ESAD-UK 2 61543790 61543790 single base substitution C T intron_variant ESAD-UK 2 61543946 61543946 single base substitution G A intron_variant ESAD-UK 2 61544372 61544372 single base substitution C G intron_variant ESAD-UK 2 61545456 61545456 single base substitution A G intron_variant ESAD-UK 2 61546500 61546500 single base substitution C T intron_variant ESAD-UK 2 61547310 61547310 single base substitution A G intron_variant ESAD-UK 2 61547902 61547902 single base substitution C T intron_variant ESAD-UK 2 61548230 61548230 single base substitution G A intron_variant ESAD-UK 2 61549216 61549216 single base substitution T A intron_variant ESAD-UK 2 61549903 61549903 single base substitution G C intron_variant ESAD-UK 2 61552050 61552050 single base substitution G A intron_variant ESAD-UK 2 61553301 61553301 single base substitution G T intron_variant ESAD-UK 2 61555349 61555349 single base substitution A T intron_variant ESAD-UK 2 61558636 61558636 single base substitution C T intron_variant ESAD-UK 2 61558924 61558924 single base substitution T A intron_variant ESAD-UK 2 61560027 61560027 single base substitution C T intron_variant ESAD-UK 2 61560295 61560295 single base substitution A G intron_variant ESAD-UK 2 61560751 61560751 single base substitution C T intron_variant ESAD-UK 2 61561678 61561678 single base substitution T C intron_variant ESAD-UK 2 61565588 61565588 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 61565588 61565588 deletion of <=200bp A - intron_variant ESAD-UK 2 61565872 61565872 single base substitution T C downstream_gene_variant ESAD-UK 2 61565872 61565872 single base substitution T C intron_variant ESAD-UK 2 61566885 61566885 single base substitution G A intron_variant ESAD-UK 2 61570151 61570151 single base substitution C T intron_variant ESAD-UK 2 61574854 61574854 single base substitution C A downstream_gene_variant ESAD-UK 2 61574854 61574854 single base substitution C A intron_variant ESAD-UK 2 61578419 61578419 single base substitution T C intron_variant ESAD-UK 2 61578419 61578419 single base substitution T C upstream_gene_variant ESAD-UK 2 61582746 61582746 insertion of <=200bp - AAC intron_variant ESAD-UK 2 61584601 61584601 single base substitution G T intron_variant ESAD-UK 2 61584973 61584973 single base substitution G C intron_variant ESAD-UK 2 61585445 61585445 deletion of <=200bp A - intron_variant ESAD-UK 2 61586613 61586613 insertion of <=200bp - A intron_variant ESAD-UK 2 61589886 61589886 single base substitution A T intron_variant ESAD-UK 2 61592528 61592528 single base substitution C T intron_variant ESAD-UK 2 61596349 61596349 single base substitution T C intron_variant ESAD-UK 2 61598036 61598039 deletion of <=200bp GTAT - intron_variant ESAD-UK 2 61598973 61598973 insertion of <=200bp - T intron_variant ESAD-UK 2 61599835 61599835 single base substitution G C intron_variant ESAD-UK 2 61603496 61603496 single base substitution G T intron_variant ESAD-UK 2 61603852 61603852 single base substitution C T intron_variant ESAD-UK 2 61605355 61605355 single base substitution G A intron_variant ESAD-UK 2 61605564 61605564 single base substitution G A splice_region_variant ESAD-UK 2 61606103 61606103 single base substitution C T intron_variant ESAD-UK 2 61606935 61606935 single base substitution C T intron_variant ESAD-UK 2 61607076 61607076 single base substitution G C intron_variant ESAD-UK 2 61607449 61607449 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 61607449 61607449 single base substitution C T missense_variant R290H 869G>A ESAD-UK 2 61607516 61607516 single base substitution G C intron_variant ESAD-UK 2 61610760 61610760 single base substitution C A intron_variant ESAD-UK 2 61612664 61612664 single base substitution G A intron_variant ESAD-UK 2 61616292 61616292 single base substitution G A intron_variant ESAD-UK 2 61617590 61617590 single base substitution C A intron_variant ESAD-UK 2 61618147 61618147 single base substitution T G intron_variant ESAD-UK 2 61618712 61618712 single base substitution T A intron_variant ESAD-UK 2 61618962 61618962 single base substitution T C intron_variant ESAD-UK 2 61620662 61620662 single base substitution T A intron_variant ESAD-UK 2 61620944 61620944 single base substitution A C intron_variant ESAD-UK 2 61621387 61621387 single base substitution G T intron_variant ESAD-UK 2 61622449 61622449 single base substitution T C intron_variant ESAD-UK 2 61622570 61622570 single base substitution T C intron_variant ESAD-UK 2 61623951 61623951 single base substitution A G intron_variant ESAD-UK 2 61625902 61625902 single base substitution T A intron_variant ESAD-UK 2 61626891 61626891 single base substitution C A intron_variant ESAD-UK 2 61629378 61629378 single base substitution G A intron_variant ESAD-UK 2 61631015 61631015 single base substitution C G intron_variant ESAD-UK 2 61633606 61633606 single base substitution T G intron_variant ESAD-UK 2 61634311 61634311 single base substitution A G intron_variant ESAD-UK 2 61635226 61635226 single base substitution G T intron_variant ESAD-UK 2 61638155 61638155 single base substitution A G intron_variant ESAD-UK 2 61638272 61638272 single base substitution C A intron_variant ESAD-UK 2 61640193 61640193 single base substitution G C intron_variant ESAD-UK 2 61643418 61643418 insertion of <=200bp - A intron_variant ESAD-UK 2 61643443 61643443 single base substitution G A intron_variant ESAD-UK 2 61644056 61644056 single base substitution G A intron_variant ESAD-UK 2 61644213 61644213 single base substitution C A intron_variant ESAD-UK 2 61647971 61647971 single base substitution G A splice_region_variant ESAD-UK 2 61648942 61648942 deletion of <=200bp G - intron_variant ESAD-UK 2 61648944 61648946 deletion of <=200bp GCA - intron_variant ESAD-UK 2 61649478 61649478 single base substitution A G intron_variant ESAD-UK 2 61649683 61649683 single base substitution T A intron_variant ESAD-UK 2 61650264 61650264 single base substitution T G intron_variant ESAD-UK 2 61650504 61650504 single base substitution C T intron_variant ESAD-UK 2 61654920 61654920 single base substitution G A intron_variant ESAD-UK 2 61657281 61657281 single base substitution C T intron_variant ESAD-UK 2 61657660 61657660 single base substitution G T intron_variant ESAD-UK 2 61657794 61657794 single base substitution T A intron_variant ESAD-UK 2 61660312 61660312 single base substitution C A intron_variant ESAD-UK 2 61660591 61660591 single base substitution A G intron_variant ESAD-UK 2 61661097 61661097 single base substitution A G intron_variant ESAD-UK 2 61664364 61664364 single base substitution A C intron_variant ESAD-UK 2 61665150 61665150 single base substitution A G intron_variant ESAD-UK 2 61665181 61665181 insertion of <=200bp - A intron_variant ESAD-UK 2 61670537 61670537 single base substitution A G intron_variant ESAD-UK 2 61671596 61671596 single base substitution G A intron_variant ESAD-UK 2 61671672 61671672 single base substitution A T intron_variant ESAD-UK 2 61674583 61674583 single base substitution A G intron_variant ESAD-UK 2 61674889 61674889 single base substitution C A intron_variant ESAD-UK 2 61675146 61675146 single base substitution G A intron_variant ESAD-UK 2 61675599 61675599 insertion of <=200bp - A intron_variant ESAD-UK 2 61680165 61680165 single base substitution A T intron_variant ESAD-UK 2 61680166 61680166 single base substitution A T intron_variant ESAD-UK 2 61681109 61681109 single base substitution A C intron_variant ESAD-UK 2 61681120 61681120 insertion of <=200bp - A intron_variant ESAD-UK 2 61682594 61682594 single base substitution T A intron_variant ESAD-UK 2 61685873 61685873 single base substitution C T intron_variant ESAD-UK 2 61687687 61687687 single base substitution A C intron_variant ESAD-UK 2 61688548 61688548 single base substitution C A intron_variant ESAD-UK 2 61692678 61692678 single base substitution T C intron_variant ESAD-UK 2 61693980 61693980 single base substitution G A intron_variant ESAD-UK 2 61694450 61694450 deletion of <=200bp A - intron_variant ESAD-UK 2 61699444 61699444 single base substitution C G upstream_gene_variant ESAD-UK 2 61699537 61699537 single base substitution A G upstream_gene_variant ESAD-UK 2 61700670 61700670 single base substitution G A upstream_gene_variant ESAD-UK 2 61702263 61702263 single base substitution C T upstream_gene_variant ESAD-UK 2 61702796 61702796 single base substitution G A upstream_gene_variant ESCA-CN 2 61415274 61415274 single base substitution G A downstream_gene_variant ESCA-CN 2 61415274 61415274 single base substitution G A missense_variant T1211I 3632C>T ESCA-CN 2 61415274 61415274 single base substitution G A missense_variant T3535I 10604C>T ESCA-CN 2 61415274 61415274 single base substitution G A missense_variant T413I 1238C>T ESCA-CN 2 61417476 61417476 single base substitution T G downstream_gene_variant ESCA-CN 2 61417476 61417476 single base substitution T G exon_variant ESCA-CN 2 61417476 61417476 single base substitution T G missense_variant Q146P 437A>C ESCA-CN 2 61417476 61417476 single base substitution T G missense_variant Q3268P 9803A>C ESCA-CN 2 61417476 61417476 single base substitution T G missense_variant Q944P 2831A>C ESCA-CN 2 61417476 61417476 single base substitution T G upstream_gene_variant ESCA-CN 2 61431410 61431410 single base substitution G T downstream_gene_variant ESCA-CN 2 61431410 61431410 single base substitution G T exon_variant ESCA-CN 2 61431410 61431410 single base substitution G T intron_variant ESCA-CN 2 61431410 61431410 single base substitution G T missense_variant T19K 56C>A ESCA-CN 2 61431410 61431410 single base substitution G T missense_variant T3122K 9365C>A ESCA-CN 2 61441414 61441414 single base substitution C T downstream_gene_variant ESCA-CN 2 61441414 61441414 single base substitution C T intron_variant ESCA-CN 2 61441414 61441414 single base substitution C T splice_acceptor_variant ESCA-CN 2 61441414 61441414 single base substitution C T synonymous_variant Q2821Q 8463G>A ESCA-CN 2 61441414 61441414 single base substitution C T synonymous_variant Q580Q 1740G>A ESCA-CN 2 61450243 61450243 single base substitution A G downstream_gene_variant ESCA-CN 2 61450243 61450243 single base substitution A G exon_variant ESCA-CN 2 61450243 61450243 single base substitution A G intron_variant ESCA-CN 2 61450243 61450243 single base substitution A G synonymous_variant C2567C 7701T>C ESCA-CN 2 61450243 61450243 single base substitution A G synonymous_variant C326C 978T>C ESCA-CN 2 61450243 61450243 single base substitution A G upstream_gene_variant ESCA-CN 2 61541824 61541824 single base substitution A G synonymous_variant L1146L 3438T>C ESCA-CN 2 61577667 61577667 single base substitution G A intron_variant ESCA-CN 2 61577667 61577667 single base substitution G A upstream_gene_variant ESCA-CN 2 61622136 61622136 single base substitution T A missense_variant D202V 605A>T ESCA-CN 2 61622136 61622136 single base substitution T A splice_region_variant ESCA-CN 2 61632989 61632989 single base substitution C A intron_variant ESCA-CN 2 61632989 61632989 single base substitution C A stop_gained E136* 406G>T ESCA-CN 2 61633164 61633164 single base substitution G C intron_variant ESCA-CN 2 61633164 61633164 single base substitution G C synonymous_variant L77L 231C>G ESCA-CN 2 61647901 61647901 single base substitution A G exon_variant ESCA-CN 2 61647901 61647901 single base substitution A G synonymous_variant Y37Y 111T>C GBM-US 2 61515873 61515873 single base substitution C T intron_variant GBM-US 2 61515873 61515873 single base substitution C T missense_variant G1563D 4688G>A KIRC-US 2 61417437 61417437 single base substitution T C downstream_gene_variant KIRC-US 2 61417437 61417437 single base substitution T C exon_variant KIRC-US 2 61417437 61417437 single base substitution T C missense_variant E159G 476A>G KIRC-US 2 61417437 61417437 single base substitution T C missense_variant E3281G 9842A>G KIRC-US 2 61417437 61417437 single base substitution T C missense_variant E957G 2870A>G KIRC-US 2 61417437 61417437 single base substitution T C upstream_gene_variant KIRC-US 2 61431456 61431456 single base substitution T C downstream_gene_variant KIRC-US 2 61431456 61431456 single base substitution T C exon_variant KIRC-US 2 61431456 61431456 single base substitution T C intron_variant KIRC-US 2 61431456 61431456 single base substitution T C missense_variant N3107D 9319A>G KIRC-US 2 61431456 61431456 single base substitution T C missense_variant N4D 10A>G KIRC-US 2 61441707 61441707 single base substitution G A downstream_gene_variant KIRC-US 2 61441707 61441707 single base substitution G A intron_variant KIRC-US 2 61441707 61441707 single base substitution G A synonymous_variant L2724L 8170C>T KIRC-US 2 61441707 61441707 single base substitution G A synonymous_variant L483L 1447C>T KIRC-US 2 61450407 61450407 single base substitution G T downstream_gene_variant KIRC-US 2 61450407 61450407 single base substitution G T exon_variant KIRC-US 2 61450407 61450407 single base substitution G T intron_variant KIRC-US 2 61450407 61450407 single base substitution G T missense_variant D2540E 7620C>A KIRC-US 2 61450407 61450407 single base substitution G T missense_variant D299E 897C>A KIRC-US 2 61450407 61450407 single base substitution G T upstream_gene_variant KIRC-US 2 61454297 61454297 single base substitution A C exon_variant KIRC-US 2 61454297 61454297 single base substitution A C intron_variant KIRC-US 2 61454297 61454297 single base substitution A C missense_variant D2500E 7500T>G KIRC-US 2 61454297 61454297 single base substitution A C missense_variant D259E 777T>G KIRC-US 2 61454297 61454297 single base substitution A C missense_variant D778E 2334T>G KIRC-US 2 61454297 61454297 single base substitution A C upstream_gene_variant KIRC-US 2 61522139 61522139 single base substitution G A intron_variant KIRC-US 2 61522139 61522139 single base substitution G A missense_variant S1469L 4406C>T KIRC-US 2 61566797 61566797 single base substitution A G exon_variant KIRC-US 2 61566797 61566797 single base substitution A G synonymous_variant H840H 2520T>C KIRC-US 2 61571006 61571006 single base substitution T C downstream_gene_variant KIRC-US 2 61571006 61571006 single base substitution T C exon_variant KIRC-US 2 61571006 61571006 single base substitution T C missense_variant H815R 2444A>G KIRC-US 2 61571101 61571101 single base substitution T C downstream_gene_variant KIRC-US 2 61571101 61571101 single base substitution T C exon_variant KIRC-US 2 61571101 61571101 single base substitution T C synonymous_variant A783A 2349A>G KIRC-US 2 61575328 61575328 single base substitution G A downstream_gene_variant KIRC-US 2 61575328 61575328 single base substitution G A synonymous_variant C654C 1962C>T KIRC-US 2 61575328 61575328 single base substitution G A upstream_gene_variant KIRP-US 2 61450209 61450209 single base substitution G C downstream_gene_variant KIRP-US 2 61450209 61450209 single base substitution G C exon_variant KIRP-US 2 61450209 61450209 single base substitution G C intron_variant KIRP-US 2 61450209 61450209 single base substitution G C missense_variant R2579G 7735C>G KIRP-US 2 61450209 61450209 single base substitution G C missense_variant R338G 1012C>G KIRP-US 2 61450209 61450209 single base substitution G C upstream_gene_variant KIRP-US 2 61454345 61454345 single base substitution A C exon_variant KIRP-US 2 61454345 61454345 single base substitution A C intron_variant KIRP-US 2 61454345 61454345 single base substitution A C synonymous_variant V243V 729T>G KIRP-US 2 61454345 61454345 single base substitution A C synonymous_variant V2484V 7452T>G KIRP-US 2 61454345 61454345 single base substitution A C synonymous_variant V762V 2286T>G KIRP-US 2 61454345 61454345 single base substitution A C upstream_gene_variant KIRP-US 2 61493234 61493234 single base substitution C T exon_variant KIRP-US 2 61493234 61493234 single base substitution C T intron_variant KIRP-US 2 61493234 61493234 single base substitution C T synonymous_variant K112K 336G>A KIRP-US 2 61493234 61493234 single base substitution C T synonymous_variant K1834K 5502G>A KIRP-US 2 61493234 61493234 single base substitution C T upstream_gene_variant KIRP-US 2 61505306 61505306 deletion of <=200bp T - exon_variant KIRP-US 2 61505306 61505306 deletion of <=200bp T - frameshift_variant E1809 KIRP-US 2 61505306 61505306 deletion of <=200bp T - frameshift_variant E87 KIRP-US 2 61505306 61505306 deletion of <=200bp T - intron_variant LAML-KR 2 61448568 61448568 single base substitution T G downstream_gene_variant LAML-KR 2 61448568 61448568 single base substitution T G intron_variant LAML-KR 2 61448568 61448568 single base substitution T G upstream_gene_variant LAML-KR 2 61456609 61456609 single base substitution A C intron_variant LAML-KR 2 61456611 61456611 single base substitution C A intron_variant LAML-KR 2 61457994 61457994 single base substitution C A intron_variant LAML-KR 2 61475342 61475342 single base substitution C A intron_variant LAML-KR 2 61480888 61480888 single base substitution G T intron_variant LAML-KR 2 61505211 61505211 single base substitution G A exon_variant LAML-KR 2 61505211 61505211 single base substitution G A intron_variant LAML-KR 2 61524238 61524238 single base substitution C A intron_variant LAML-KR 2 61538615 61538615 single base substitution G A intron_variant LAML-KR 2 61538621 61538621 single base substitution G A intron_variant LAML-KR 2 61576239 61576239 single base substitution T A intron_variant LAML-KR 2 61576239 61576239 single base substitution T A upstream_gene_variant LAML-KR 2 61577435 61577435 single base substitution T C 3_prime_UTR_variant LAML-KR 2 61577435 61577435 single base substitution T C synonymous_variant A489A 1467A>G LAML-KR 2 61577435 61577435 single base substitution T C upstream_gene_variant LAML-KR 2 61581663 61581663 single base substitution T C intron_variant LAML-KR 2 61640458 61640458 single base substitution G A intron_variant LAML-KR 2 61640476 61640476 single base substitution A C intron_variant LAML-KR 2 61640481 61640481 single base substitution G A intron_variant LAML-KR 2 61640620 61640620 single base substitution C T intron_variant LAML-KR 2 61640851 61640851 single base substitution G A intron_variant LAML-KR 2 61640941 61640941 single base substitution C T intron_variant LAML-KR 2 61641091 61641091 single base substitution T A intron_variant LAML-KR 2 61641171 61641171 single base substitution C T intron_variant LAML-KR 2 61644866 61644866 single base substitution C T intron_variant LGG-US 2 61468710 61468710 single base substitution C T exon_variant LGG-US 2 61468710 61468710 single base substitution C T intron_variant LGG-US 2 61468710 61468710 single base substitution C T synonymous_variant S13S 39G>A LGG-US 2 61468710 61468710 single base substitution C T synonymous_variant S2254S 6762G>A LGG-US 2 61468710 61468710 single base substitution C T synonymous_variant S532S 1596G>A LICA-CN 2 61508222 61508222 single base substitution T A intron_variant LICA-CN 2 61508222 61508222 single base substitution T A splice_region_variant LICA-CN 2 61508222 61508222 single base substitution T A upstream_gene_variant LICA-CN 2 61528097 61528097 single base substitution C T exon_variant LICA-CN 2 61528097 61528097 single base substitution C T missense_variant D1373N 4117G>A LICA-FR 2 61414249 61414249 single base substitution A C downstream_gene_variant LICA-FR 2 61414250 61414250 single base substitution A C downstream_gene_variant LICA-FR 2 61415456 61415456 single base substitution A T downstream_gene_variant LICA-FR 2 61415456 61415456 single base substitution A T synonymous_variant S1150S 3450T>A LICA-FR 2 61415456 61415456 single base substitution A T synonymous_variant S3474S 10422T>A LICA-FR 2 61415456 61415456 single base substitution A T synonymous_variant S352S 1056T>A LICA-FR 2 61469594 61469594 insertion of <=200bp - ACACACAC intron_variant LICA-FR 2 61469594 61469594 insertion of <=200bp - ACACACAC upstream_gene_variant LICA-FR 2 61485051 61485051 single base substitution T C intron_variant LICA-FR 2 61485051 61485051 single base substitution T C upstream_gene_variant LICA-FR 2 61505402 61505402 insertion of <=200bp - A exon_variant LICA-FR 2 61505402 61505402 insertion of <=200bp - A frameshift_variant H1777H? LICA-FR 2 61505402 61505402 insertion of <=200bp - A frameshift_variant H55H? LICA-FR 2 61505402 61505402 insertion of <=200bp - A intron_variant LICA-FR 2 61529014 61529014 single base substitution A C intron_variant LICA-FR 2 61529014 61529014 single base substitution A C upstream_gene_variant LICA-FR 2 61542058 61542058 single base substitution C A missense_variant D1112Y 3334G>T LICA-FR 2 61545326 61545326 insertion of <=200bp - AA intron_variant LICA-FR 2 61566537 61566537 single base substitution T A downstream_gene_variant LICA-FR 2 61566537 61566537 single base substitution T A missense_variant Q898L 2693A>T LICA-FR 2 61566796 61566796 deletion of <=200bp G - exon_variant LICA-FR 2 61566796 61566796 deletion of <=200bp G - frameshift_variant Q841 LICA-FR 2 61571030 61571030 single base substitution T C downstream_gene_variant LICA-FR 2 61571030 61571030 single base substitution T C exon_variant LICA-FR 2 61571030 61571030 single base substitution T C missense_variant N807S 2420A>G LICA-FR 2 61583092 61583092 single base substitution T C intron_variant LICA-FR 2 61584357 61584357 single base substitution A C intron_variant LICA-FR 2 61604689 61604689 single base substitution A G intron_variant LICA-FR 2 61613133 61613133 insertion of <=200bp - A intron_variant LICA-FR 2 61615064 61615064 insertion of <=200bp - ACACAC intron_variant LICA-FR 2 61624577 61624578 deletion of <=200bp AA - intron_variant LICA-FR 2 61628851 61628851 insertion of <=200bp - T intron_variant LICA-FR 2 61629152 61629152 single base substitution A G intron_variant LICA-FR 2 61633059 61633059 single base substitution A T intron_variant LICA-FR 2 61633059 61633059 single base substitution A T missense_variant N112K 336T>A LICA-FR 2 61644866 61644866 single base substitution C T intron_variant LICA-FR 2 61657366 61657366 single base substitution G A intron_variant LICA-FR 2 61678441 61678441 single base substitution T C intron_variant LICA-FR 2 61682004 61682005 deletion of <=200bp TC - intron_variant LICA-FR 2 61687401 61687401 single base substitution T C intron_variant LIHC-US 2 61413791 61413791 single base substitution T A downstream_gene_variant LIHC-US 2 61415443 61415443 single base substitution C G downstream_gene_variant LIHC-US 2 61415443 61415443 single base substitution C G missense_variant D1155H 3463G>C LIHC-US 2 61415443 61415443 single base substitution C G missense_variant D3479H 10435G>C LIHC-US 2 61415443 61415443 single base substitution C G missense_variant D357H 1069G>C LIHC-US 2 61430400 61430400 single base substitution T G downstream_gene_variant LIHC-US 2 61430400 61430400 single base substitution T G intron_variant LIHC-US 2 61430400 61430400 single base substitution T G splice_acceptor_variant LIHC-US 2 61441759 61441759 insertion of <=200bp - GACCTTGTT downstream_gene_variant LIHC-US 2 61441759 61441759 insertion of <=200bp - GACCTTGTT exon_variant LIHC-US 2 61441759 61441759 insertion of <=200bp - GACCTTGTT inframe_insertion S2706SNKV LIHC-US 2 61441759 61441759 insertion of <=200bp - GACCTTGTT inframe_insertion S465SNKV LIHC-US 2 61441759 61441759 insertion of <=200bp - GACCTTGTT intron_variant LIHC-US 2 61447525 61447525 single base substitution G A downstream_gene_variant LIHC-US 2 61447525 61447525 single base substitution G A exon_variant LIHC-US 2 61447525 61447525 single base substitution G A missense_variant A2656V 7967C>T LIHC-US 2 61447525 61447525 single base substitution G A missense_variant A415V 1244C>T LIHC-US 2 61447525 61447525 single base substitution G A upstream_gene_variant LIHC-US 2 61520656 61520656 single base substitution T C intron_variant LIHC-US 2 61520656 61520656 single base substitution T C synonymous_variant L1497L 4491A>G LIHC-US 2 61571021 61571021 single base substitution G T downstream_gene_variant LIHC-US 2 61571021 61571021 single base substitution G T exon_variant LIHC-US 2 61571021 61571021 single base substitution G T missense_variant A810E 2429C>A LINC-JP 2 61410977 61410977 single base substitution A G downstream_gene_variant LINC-JP 2 61412669 61412669 single base substitution A G downstream_gene_variant LINC-JP 2 61412679 61412679 single base substitution A C downstream_gene_variant LINC-JP 2 61412692 61412692 single base substitution A C downstream_gene_variant LINC-JP 2 61415645 61415646 deletion of <=200bp AG - downstream_gene_variant LINC-JP 2 61415645 61415646 deletion of <=200bp AG - exon_variant LINC-JP 2 61415645 61415646 deletion of <=200bp AG - frameshift_variant S1087 LINC-JP 2 61415645 61415646 deletion of <=200bp AG - frameshift_variant S289 LINC-JP 2 61415645 61415646 deletion of <=200bp AG - frameshift_variant S3411 LINC-JP 2 61415897 61415897 single base substitution G A downstream_gene_variant LINC-JP 2 61415897 61415897 single base substitution G A intron_variant LINC-JP 2 61416038 61416038 single base substitution A C downstream_gene_variant LINC-JP 2 61416038 61416038 single base substitution A C splice_region_variant LINC-JP 2 61420977 61420977 single base substitution G T intron_variant LINC-JP 2 61420977 61420977 single base substitution G T upstream_gene_variant LINC-JP 2 61431589 61431589 single base substitution A C downstream_gene_variant LINC-JP 2 61431589 61431589 single base substitution A C intron_variant LINC-JP 2 61431589 61431589 single base substitution A C upstream_gene_variant LINC-JP 2 61447588 61447588 single base substitution A C downstream_gene_variant LINC-JP 2 61447588 61447588 single base substitution A C exon_variant LINC-JP 2 61447588 61447588 single base substitution A C missense_variant I2635S 7904T>G LINC-JP 2 61447588 61447588 single base substitution A C missense_variant I394S 1181T>G LINC-JP 2 61447588 61447588 single base substitution A C upstream_gene_variant LINC-JP 2 61456048 61456048 single base substitution T C exon_variant LINC-JP 2 61456048 61456048 single base substitution T C intron_variant LINC-JP 2 61456048 61456048 single base substitution T C missense_variant M187V 559A>G LINC-JP 2 61456048 61456048 single base substitution T C missense_variant M2428V 7282A>G LINC-JP 2 61456048 61456048 single base substitution T C missense_variant M706V 2116A>G LINC-JP 2 61456592 61456592 single base substitution T A intron_variant LINC-JP 2 61463086 61463086 single base substitution C T intron_variant LINC-JP 2 61468912 61468912 single base substitution A T exon_variant LINC-JP 2 61468912 61468912 single base substitution A T intron_variant LINC-JP 2 61468912 61468912 single base substitution A T missense_variant S2224T 6670T>A LINC-JP 2 61468912 61468912 single base substitution A T missense_variant S502T 1504T>A LINC-JP 2 61468912 61468912 single base substitution A T upstream_gene_variant LINC-JP 2 61473080 61473080 single base substitution C T intron_variant LINC-JP 2 61473080 61473080 single base substitution C T upstream_gene_variant LINC-JP 2 61477248 61477248 single base substitution T C intron_variant LINC-JP 2 61483459 61483459 single base substitution C T intron_variant LINC-JP 2 61483494 61483494 deletion of <=200bp A - intron_variant LINC-JP 2 61492912 61492912 single base substitution T G exon_variant LINC-JP 2 61492912 61492912 single base substitution T G intron_variant LINC-JP 2 61499814 61499814 single base substitution T G intron_variant LINC-JP 2 61505586 61505586 single base substitution C A intron_variant LINC-JP 2 61505586 61505586 single base substitution C A splice_region_variant LINC-JP 2 61510745 61510745 single base substitution A T intron_variant LINC-JP 2 61510745 61510745 single base substitution A T upstream_gene_variant LINC-JP 2 61510752 61510752 single base substitution G T intron_variant LINC-JP 2 61510752 61510752 single base substitution G T upstream_gene_variant LINC-JP 2 61513005 61513005 single base substitution C T intron_variant LINC-JP 2 61513005 61513005 single base substitution C T upstream_gene_variant LINC-JP 2 61527958 61527958 single base substitution C A intron_variant LINC-JP 2 61538574 61538574 single base substitution A G intron_variant LINC-JP 2 61538584 61538584 single base substitution T A intron_variant LINC-JP 2 61538656 61538656 single base substitution T C intron_variant LINC-JP 2 61546396 61546396 insertion of <=200bp - TCATCATAACAT disruptive_inframe_insertion D1027ECYDD LINC-JP 2 61553663 61553663 single base substitution T C intron_variant LINC-JP 2 61570806 61570806 deletion of <=200bp A - downstream_gene_variant LINC-JP 2 61570806 61570806 deletion of <=200bp A - intron_variant LINC-JP 2 61575336 61575336 single base substitution C T downstream_gene_variant LINC-JP 2 61575336 61575336 single base substitution C T missense_variant G652S 1954G>A LINC-JP 2 61575336 61575336 single base substitution C T upstream_gene_variant LINC-JP 2 61575633 61575633 single base substitution T C intron_variant LINC-JP 2 61575633 61575633 single base substitution T C upstream_gene_variant LINC-JP 2 61587583 61587583 single base substitution C A intron_variant LINC-JP 2 61588723 61588723 single base substitution T C intron_variant LINC-JP 2 61593221 61593221 single base substitution T G intron_variant LINC-JP 2 61596898 61596898 single base substitution G A intron_variant LINC-JP 2 61605499 61605499 single base substitution T A missense_variant T359S 1075A>T LINC-JP 2 61605499 61605499 single base substitution T A splice_region_variant LINC-JP 2 61611514 61611514 single base substitution A T intron_variant LINC-JP 2 61619850 61619850 single base substitution G A intron_variant LINC-JP 2 61621938 61621938 single base substitution T A intron_variant LINC-JP 2 61622231 61622231 single base substitution G T intron_variant LINC-JP 2 61646234 61646234 single base substitution G A intron_variant LINC-JP 2 61646652 61646652 single base substitution G T intron_variant LINC-JP 2 61648541 61648541 single base substitution T C intron_variant LINC-JP 2 61652682 61652682 single base substitution G A intron_variant LINC-JP 2 61663654 61663654 single base substitution T C intron_variant LINC-JP 2 61668276 61668276 single base substitution A T intron_variant LINC-JP 2 61668277 61668277 single base substitution T A intron_variant LINC-JP 2 61673782 61673782 single base substitution T C intron_variant LINC-JP 2 61686559 61686559 single base substitution T C intron_variant LIRI-JP 2 61411459 61411459 single base substitution A G downstream_gene_variant LIRI-JP 2 61411537 61411537 single base substitution A G downstream_gene_variant LIRI-JP 2 61413213 61413213 single base substitution A C downstream_gene_variant LIRI-JP 2 61413265 61413265 single base substitution T G downstream_gene_variant LIRI-JP 2 61415175 61415175 single base substitution T G 3_prime_UTR_variant LIRI-JP 2 61415175 61415175 single base substitution T G downstream_gene_variant LIRI-JP 2 61415178 61415178 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 61415178 61415178 single base substitution T C downstream_gene_variant LIRI-JP 2 61416721 61416721 single base substitution T G downstream_gene_variant LIRI-JP 2 61416721 61416721 single base substitution T G exon_variant LIRI-JP 2 61416721 61416721 single base substitution T G intron_variant LIRI-JP 2 61416901 61416901 single base substitution T C downstream_gene_variant LIRI-JP 2 61416901 61416901 single base substitution T C exon_variant LIRI-JP 2 61416901 61416901 single base substitution T C intron_variant LIRI-JP 2 61417030 61417030 single base substitution T C downstream_gene_variant LIRI-JP 2 61417030 61417030 single base substitution T C exon_variant LIRI-JP 2 61417030 61417030 single base substitution T C intron_variant LIRI-JP 2 61417030 61417030 single base substitution T C upstream_gene_variant LIRI-JP 2 61417150 61417150 single base substitution G C downstream_gene_variant LIRI-JP 2 61417150 61417150 single base substitution G C exon_variant LIRI-JP 2 61417150 61417150 single base substitution G C intron_variant LIRI-JP 2 61417150 61417150 single base substitution G C upstream_gene_variant LIRI-JP 2 61420100 61420100 single base substitution T C exon_variant LIRI-JP 2 61420100 61420100 single base substitution T C missense_variant Y3175C 9524A>G LIRI-JP 2 61420100 61420100 single base substitution T C missense_variant Y53C 158A>G LIRI-JP 2 61420100 61420100 single base substitution T C missense_variant Y851C 2552A>G LIRI-JP 2 61420100 61420100 single base substitution T C upstream_gene_variant LIRI-JP 2 61423039 61423039 single base substitution C A intron_variant LIRI-JP 2 61423039 61423039 single base substitution C A upstream_gene_variant LIRI-JP 2 61424720 61424720 single base substitution T C intron_variant LIRI-JP 2 61424720 61424720 single base substitution T C upstream_gene_variant LIRI-JP 2 61425056 61425056 single base substitution A G intron_variant LIRI-JP 2 61425056 61425056 single base substitution A G upstream_gene_variant LIRI-JP 2 61425232 61425232 single base substitution A G intron_variant LIRI-JP 2 61425232 61425232 single base substitution A G upstream_gene_variant LIRI-JP 2 61426974 61426974 single base substitution T A downstream_gene_variant LIRI-JP 2 61426974 61426974 single base substitution T A intron_variant LIRI-JP 2 61428452 61428452 single base substitution G A downstream_gene_variant LIRI-JP 2 61428452 61428452 single base substitution G A intron_variant LIRI-JP 2 61429674 61429674 single base substitution C T downstream_gene_variant LIRI-JP 2 61429674 61429674 single base substitution C T intron_variant LIRI-JP 2 61430728 61430728 single base substitution T C downstream_gene_variant LIRI-JP 2 61430728 61430728 single base substitution T C intron_variant LIRI-JP 2 61430901 61430901 single base substitution A G downstream_gene_variant LIRI-JP 2 61430901 61430901 single base substitution A G intron_variant LIRI-JP 2 61434513 61434513 single base substitution A G downstream_gene_variant LIRI-JP 2 61434513 61434513 single base substitution A G exon_variant LIRI-JP 2 61434513 61434513 single base substitution A G intron_variant LIRI-JP 2 61434513 61434513 single base substitution A G upstream_gene_variant LIRI-JP 2 61436499 61436499 deletion of <=200bp G - intron_variant LIRI-JP 2 61437620 61437620 single base substitution G A downstream_gene_variant LIRI-JP 2 61437620 61437620 single base substitution G A intron_variant LIRI-JP 2 61439711 61439711 single base substitution T C downstream_gene_variant LIRI-JP 2 61439711 61439711 single base substitution T C intron_variant LIRI-JP 2 61440541 61440541 single base substitution T C downstream_gene_variant LIRI-JP 2 61440541 61440541 single base substitution T C intron_variant LIRI-JP 2 61440720 61440720 single base substitution T G downstream_gene_variant LIRI-JP 2 61440720 61440720 single base substitution T G intron_variant LIRI-JP 2 61442193 61442193 single base substitution T C intron_variant LIRI-JP 2 61442193 61442193 single base substitution T C upstream_gene_variant LIRI-JP 2 61442940 61442940 single base substitution T C downstream_gene_variant LIRI-JP 2 61442940 61442940 single base substitution T C intron_variant LIRI-JP 2 61442940 61442940 single base substitution T C upstream_gene_variant LIRI-JP 2 61442943 61442943 single base substitution G T downstream_gene_variant LIRI-JP 2 61442943 61442943 single base substitution G T intron_variant LIRI-JP 2 61442943 61442943 single base substitution G T upstream_gene_variant LIRI-JP 2 61447930 61447930 single base substitution T A downstream_gene_variant LIRI-JP 2 61447930 61447930 single base substitution T A intron_variant LIRI-JP 2 61447930 61447930 single base substitution T A upstream_gene_variant LIRI-JP 2 61447966 61447966 single base substitution A G downstream_gene_variant LIRI-JP 2 61447966 61447966 single base substitution A G intron_variant LIRI-JP 2 61447966 61447966 single base substitution A G upstream_gene_variant LIRI-JP 2 61449130 61449130 single base substitution A G downstream_gene_variant LIRI-JP 2 61449130 61449130 single base substitution A G intron_variant LIRI-JP 2 61449130 61449130 single base substitution A G upstream_gene_variant LIRI-JP 2 61449325 61449325 single base substitution T C downstream_gene_variant LIRI-JP 2 61449325 61449325 single base substitution T C intron_variant LIRI-JP 2 61449325 61449325 single base substitution T C upstream_gene_variant LIRI-JP 2 61450541 61450541 single base substitution C T downstream_gene_variant LIRI-JP 2 61450541 61450541 single base substitution C T exon_variant LIRI-JP 2 61450541 61450541 single base substitution C T intron_variant LIRI-JP 2 61450541 61450541 single base substitution C T upstream_gene_variant LIRI-JP 2 61453365 61453365 single base substitution T C downstream_gene_variant LIRI-JP 2 61453365 61453365 single base substitution T C intron_variant LIRI-JP 2 61453365 61453365 single base substitution T C upstream_gene_variant LIRI-JP 2 61454210 61454210 single base substitution T C exon_variant LIRI-JP 2 61454210 61454210 single base substitution T C intron_variant LIRI-JP 2 61454210 61454210 single base substitution T C synonymous_variant R2529R 7587A>G LIRI-JP 2 61454210 61454210 single base substitution T C synonymous_variant R288R 864A>G LIRI-JP 2 61454210 61454210 single base substitution T C synonymous_variant R807R 2421A>G LIRI-JP 2 61454210 61454210 single base substitution T C upstream_gene_variant LIRI-JP 2 61455081 61455081 single base substitution T C intron_variant LIRI-JP 2 61455081 61455081 single base substitution T C upstream_gene_variant LIRI-JP 2 61455786 61455786 single base substitution A C exon_variant LIRI-JP 2 61455786 61455786 single base substitution A C intron_variant LIRI-JP 2 61455786 61455786 single base substitution A C synonymous_variant P238P 714T>G LIRI-JP 2 61455786 61455786 single base substitution A C synonymous_variant P2479P 7437T>G LIRI-JP 2 61455786 61455786 single base substitution A C synonymous_variant P757P 2271T>G LIRI-JP 2 61455786 61455786 single base substitution A C upstream_gene_variant LIRI-JP 2 61457208 61457208 single base substitution A C intron_variant LIRI-JP 2 61457769 61457769 single base substitution G A intron_variant LIRI-JP 2 61461003 61461003 single base substitution G C intron_variant LIRI-JP 2 61461958 61461958 single base substitution G A intron_variant LIRI-JP 2 61463158 61463158 single base substitution T A intron_variant LIRI-JP 2 61463158 61463158 single base substitution T A splice_region_variant LIRI-JP 2 61463760 61463760 single base substitution T C intron_variant LIRI-JP 2 61465095 61465095 single base substitution G A intron_variant LIRI-JP 2 61466232 61466232 single base substitution T A intron_variant LIRI-JP 2 61466752 61466752 single base substitution C T intron_variant LIRI-JP 2 61468816 61468816 single base substitution T C intron_variant LIRI-JP 2 61468816 61468816 single base substitution T C upstream_gene_variant LIRI-JP 2 61469720 61469720 single base substitution T C intron_variant LIRI-JP 2 61469720 61469720 single base substitution T C upstream_gene_variant LIRI-JP 2 61472153 61472153 single base substitution G C intron_variant LIRI-JP 2 61472153 61472153 single base substitution G C upstream_gene_variant LIRI-JP 2 61472610 61472610 single base substitution C A intron_variant LIRI-JP 2 61472610 61472610 single base substitution C A upstream_gene_variant LIRI-JP 2 61474996 61474996 single base substitution C T intron_variant LIRI-JP 2 61477064 61477064 single base substitution C A intron_variant LIRI-JP 2 61478223 61478223 single base substitution A C intron_variant LIRI-JP 2 61478226 61478226 single base substitution T G intron_variant LIRI-JP 2 61478598 61478598 single base substitution T C intron_variant LIRI-JP 2 61479073 61479073 single base substitution G A intron_variant LIRI-JP 2 61479497 61479497 single base substitution T C intron_variant LIRI-JP 2 61479609 61479609 single base substitution T C intron_variant LIRI-JP 2 61479747 61479747 single base substitution T C intron_variant LIRI-JP 2 61481034 61481034 single base substitution T C intron_variant LIRI-JP 2 61481122 61481122 single base substitution G A intron_variant LIRI-JP 2 61481165 61481165 single base substitution T C intron_variant LIRI-JP 2 61481314 61481314 single base substitution T C intron_variant LIRI-JP 2 61482855 61482855 single base substitution T C intron_variant LIRI-JP 2 61483437 61483437 single base substitution C A intron_variant LIRI-JP 2 61483619 61483619 single base substitution T C intron_variant LIRI-JP 2 61483619 61483619 single base substitution T C splice_region_variant LIRI-JP 2 61483827 61483827 single base substitution T C intron_variant LIRI-JP 2 61484283 61484283 single base substitution A G intron_variant LIRI-JP 2 61484283 61484283 single base substitution A G upstream_gene_variant LIRI-JP 2 61485856 61485856 single base substitution A T intron_variant LIRI-JP 2 61485856 61485856 single base substitution A T upstream_gene_variant LIRI-JP 2 61486806 61486806 single base substitution C A intron_variant LIRI-JP 2 61486806 61486806 single base substitution C A upstream_gene_variant LIRI-JP 2 61486807 61486807 single base substitution C A intron_variant LIRI-JP 2 61486807 61486807 single base substitution C A upstream_gene_variant LIRI-JP 2 61487312 61487312 single base substitution T C intron_variant LIRI-JP 2 61487312 61487312 single base substitution T C upstream_gene_variant LIRI-JP 2 61488509 61488509 single base substitution T C downstream_gene_variant LIRI-JP 2 61488509 61488509 single base substitution T C intron_variant LIRI-JP 2 61488509 61488509 single base substitution T C upstream_gene_variant LIRI-JP 2 61488825 61488825 single base substitution A C downstream_gene_variant LIRI-JP 2 61488825 61488825 single base substitution A C intron_variant LIRI-JP 2 61488825 61488825 single base substitution A C upstream_gene_variant LIRI-JP 2 61489360 61489360 single base substitution C A downstream_gene_variant LIRI-JP 2 61489360 61489360 single base substitution C A intron_variant LIRI-JP 2 61489435 61489435 single base substitution T C downstream_gene_variant LIRI-JP 2 61489435 61489435 single base substitution T C intron_variant LIRI-JP 2 61489947 61489947 single base substitution C T downstream_gene_variant LIRI-JP 2 61489947 61489947 single base substitution C T intron_variant LIRI-JP 2 61489970 61489970 single base substitution G A downstream_gene_variant LIRI-JP 2 61489970 61489970 single base substitution G A intron_variant LIRI-JP 2 61494075 61494075 single base substitution T A intron_variant LIRI-JP 2 61494075 61494075 single base substitution T A upstream_gene_variant LIRI-JP 2 61494483 61494483 single base substitution T G intron_variant LIRI-JP 2 61494483 61494483 single base substitution T G upstream_gene_variant LIRI-JP 2 61495266 61495266 single base substitution T C intron_variant LIRI-JP 2 61495266 61495266 single base substitution T C upstream_gene_variant LIRI-JP 2 61495917 61495917 single base substitution T C intron_variant LIRI-JP 2 61495917 61495917 single base substitution T C upstream_gene_variant LIRI-JP 2 61496798 61496798 single base substitution T G intron_variant LIRI-JP 2 61496798 61496798 single base substitution T G upstream_gene_variant LIRI-JP 2 61497351 61497351 single base substitution C G intron_variant LIRI-JP 2 61497351 61497351 single base substitution C G upstream_gene_variant LIRI-JP 2 61499803 61499803 single base substitution C A intron_variant LIRI-JP 2 61501346 61501346 single base substitution G A downstream_gene_variant LIRI-JP 2 61501346 61501346 single base substitution G A intron_variant LIRI-JP 2 61501753 61501753 single base substitution C T downstream_gene_variant LIRI-JP 2 61501753 61501753 single base substitution C T intron_variant LIRI-JP 2 61505694 61505694 single base substitution T C intron_variant LIRI-JP 2 61506410 61506410 single base substitution T C intron_variant LIRI-JP 2 61507362 61507362 single base substitution T C intron_variant LIRI-JP 2 61507666 61507666 single base substitution A G intron_variant LIRI-JP 2 61507666 61507666 single base substitution A G upstream_gene_variant LIRI-JP 2 61508752 61508752 single base substitution T C intron_variant LIRI-JP 2 61508752 61508752 single base substitution T C upstream_gene_variant LIRI-JP 2 61512251 61512251 single base substitution C G intron_variant LIRI-JP 2 61512251 61512251 single base substitution C G upstream_gene_variant LIRI-JP 2 61514181 61514181 single base substitution T A intron_variant LIRI-JP 2 61514504 61514504 single base substitution T C intron_variant LIRI-JP 2 61515702 61515702 single base substitution G C intron_variant LIRI-JP 2 61517483 61517483 single base substitution A C intron_variant LIRI-JP 2 61517935 61517935 single base substitution A G intron_variant LIRI-JP 2 61520135 61520135 single base substitution T G intron_variant LIRI-JP 2 61520490 61520490 single base substitution T C intron_variant LIRI-JP 2 61520497 61520497 single base substitution T C intron_variant LIRI-JP 2 61520977 61520977 single base substitution T A intron_variant LIRI-JP 2 61521986 61521986 single base substitution T C intron_variant LIRI-JP 2 61522586 61522586 single base substitution A G intron_variant LIRI-JP 2 61525129 61525129 single base substitution T A intron_variant LIRI-JP 2 61529523 61529523 single base substitution T C intron_variant LIRI-JP 2 61529523 61529523 single base substitution T C upstream_gene_variant LIRI-JP 2 61534532 61534532 single base substitution T C intron_variant LIRI-JP 2 61535599 61535599 single base substitution T C intron_variant LIRI-JP 2 61535681 61535681 single base substitution T C intron_variant LIRI-JP 2 61535925 61535925 single base substitution C T intron_variant LIRI-JP 2 61536759 61536759 single base substitution T C intron_variant LIRI-JP 2 61536914 61536914 single base substitution T C intron_variant LIRI-JP 2 61537185 61537185 single base substitution T C intron_variant LIRI-JP 2 61538265 61538265 single base substitution C T intron_variant LIRI-JP 2 61541518 61541518 single base substitution T C intron_variant LIRI-JP 2 61541812 61541812 single base substitution A C synonymous_variant S1150S 3450T>G LIRI-JP 2 61543685 61543685 single base substitution A G intron_variant LIRI-JP 2 61544285 61544285 single base substitution A T intron_variant LIRI-JP 2 61547618 61547618 single base substitution C A intron_variant LIRI-JP 2 61547744 61547744 single base substitution T C intron_variant LIRI-JP 2 61552222 61552222 single base substitution T C intron_variant LIRI-JP 2 61552453 61552453 single base substitution T C intron_variant LIRI-JP 2 61555974 61555974 single base substitution C A intron_variant LIRI-JP 2 61556799 61556799 single base substitution T C intron_variant LIRI-JP 2 61556941 61556941 single base substitution T C intron_variant LIRI-JP 2 61560262 61560262 single base substitution T G intron_variant LIRI-JP 2 61560621 61560621 single base substitution T A intron_variant LIRI-JP 2 61560999 61560999 single base substitution T C intron_variant LIRI-JP 2 61562581 61562581 single base substitution T C downstream_gene_variant LIRI-JP 2 61562581 61562581 single base substitution T C intron_variant LIRI-JP 2 61563358 61563358 single base substitution C A downstream_gene_variant LIRI-JP 2 61563358 61563358 single base substitution C A intron_variant LIRI-JP 2 61563633 61563633 single base substitution T C downstream_gene_variant LIRI-JP 2 61563633 61563633 single base substitution T C intron_variant LIRI-JP 2 61564423 61564423 single base substitution C T downstream_gene_variant LIRI-JP 2 61564423 61564423 single base substitution C T intron_variant LIRI-JP 2 61565290 61565290 single base substitution C T downstream_gene_variant LIRI-JP 2 61565290 61565290 single base substitution C T intron_variant LIRI-JP 2 61565887 61565887 single base substitution T C downstream_gene_variant LIRI-JP 2 61565887 61565887 single base substitution T C intron_variant LIRI-JP 2 61566243 61566243 single base substitution T C downstream_gene_variant LIRI-JP 2 61566243 61566243 single base substitution T C intron_variant LIRI-JP 2 61567483 61567483 single base substitution A T intron_variant LIRI-JP 2 61571434 61571434 single base substitution T C downstream_gene_variant LIRI-JP 2 61571434 61571434 single base substitution T C intron_variant LIRI-JP 2 61574261 61574261 single base substitution C T downstream_gene_variant LIRI-JP 2 61574261 61574261 single base substitution C T intron_variant LIRI-JP 2 61575637 61575637 single base substitution T C intron_variant LIRI-JP 2 61575637 61575637 single base substitution T C upstream_gene_variant LIRI-JP 2 61576050 61576050 single base substitution T A intron_variant LIRI-JP 2 61576050 61576050 single base substitution T A upstream_gene_variant LIRI-JP 2 61576782 61576782 single base substitution T A intron_variant LIRI-JP 2 61576782 61576782 single base substitution T A upstream_gene_variant LIRI-JP 2 61579578 61579578 single base substitution T C intron_variant LIRI-JP 2 61579578 61579578 single base substitution T C upstream_gene_variant LIRI-JP 2 61580494 61580494 single base substitution A G intron_variant LIRI-JP 2 61583846 61583846 single base substitution T C intron_variant LIRI-JP 2 61584991 61584991 single base substitution T C intron_variant LIRI-JP 2 61586135 61586135 single base substitution G A intron_variant LIRI-JP 2 61587503 61587503 single base substitution T C intron_variant LIRI-JP 2 61588324 61588324 single base substitution C A intron_variant LIRI-JP 2 61592189 61592189 single base substitution C A intron_variant LIRI-JP 2 61593045 61593045 single base substitution C T intron_variant LIRI-JP 2 61595487 61595487 single base substitution A G intron_variant LIRI-JP 2 61597475 61597475 single base substitution C A 3_prime_UTR_variant LIRI-JP 2 61597475 61597475 single base substitution C A missense_variant C411F 1232G>T LIRI-JP 2 61599797 61599797 single base substitution C A intron_variant LIRI-JP 2 61600109 61600109 single base substitution T C intron_variant LIRI-JP 2 61601155 61601155 single base substitution G A intron_variant LIRI-JP 2 61601162 61601162 single base substitution G T intron_variant LIRI-JP 2 61601269 61601269 single base substitution C A intron_variant LIRI-JP 2 61613744 61613744 single base substitution T C intron_variant LIRI-JP 2 61617486 61617486 single base substitution A T intron_variant LIRI-JP 2 61618535 61618535 single base substitution T C intron_variant LIRI-JP 2 61619908 61619908 single base substitution G A intron_variant LIRI-JP 2 61620056 61620056 single base substitution T C intron_variant LIRI-JP 2 61620436 61620436 single base substitution T C intron_variant LIRI-JP 2 61622253 61622253 single base substitution T A intron_variant LIRI-JP 2 61623153 61623153 single base substitution T C intron_variant LIRI-JP 2 61623366 61623366 single base substitution T C intron_variant LIRI-JP 2 61623415 61623415 single base substitution G C intron_variant LIRI-JP 2 61629214 61629214 single base substitution A C intron_variant LIRI-JP 2 61630399 61630399 single base substitution C A intron_variant LIRI-JP 2 61631334 61631334 single base substitution T C intron_variant LIRI-JP 2 61632225 61632225 single base substitution A C intron_variant LIRI-JP 2 61632578 61632578 single base substitution T C intron_variant LIRI-JP 2 61634344 61634344 single base substitution G C intron_variant LIRI-JP 2 61634722 61634722 single base substitution T C intron_variant LIRI-JP 2 61635047 61635047 single base substitution C T intron_variant LIRI-JP 2 61635674 61635674 single base substitution T C intron_variant LIRI-JP 2 61637221 61637221 single base substitution T G intron_variant LIRI-JP 2 61638797 61638797 single base substitution T C intron_variant LIRI-JP 2 61638879 61638879 single base substitution T C intron_variant LIRI-JP 2 61638941 61638941 deletion of <=200bp A - intron_variant LIRI-JP 2 61640107 61640107 single base substitution G A intron_variant LIRI-JP 2 61641693 61641693 single base substitution A C intron_variant LIRI-JP 2 61642369 61642369 single base substitution T C intron_variant LIRI-JP 2 61645011 61645011 single base substitution G T intron_variant LIRI-JP 2 61645604 61645604 deletion of <=200bp C - intron_variant LIRI-JP 2 61645641 61645641 single base substitution T C intron_variant LIRI-JP 2 61646597 61646597 single base substitution C T intron_variant LIRI-JP 2 61647137 61647137 single base substitution A C intron_variant LIRI-JP 2 61649362 61649362 single base substitution G T intron_variant LIRI-JP 2 61649891 61649891 single base substitution T A intron_variant LIRI-JP 2 61652576 61652576 single base substitution T C intron_variant LIRI-JP 2 61653964 61653964 single base substitution T A intron_variant LIRI-JP 2 61655808 61655808 single base substitution G T intron_variant LIRI-JP 2 61655927 61655927 single base substitution G A intron_variant LIRI-JP 2 61656146 61656146 single base substitution T A intron_variant LIRI-JP 2 61656684 61656684 single base substitution C T intron_variant LIRI-JP 2 61657052 61657052 single base substitution A G intron_variant LIRI-JP 2 61661802 61661802 single base substitution T C intron_variant LIRI-JP 2 61669863 61669863 single base substitution A C intron_variant LIRI-JP 2 61671743 61671743 single base substitution T C intron_variant LIRI-JP 2 61674096 61674096 single base substitution A C intron_variant LIRI-JP 2 61674664 61674664 single base substitution A C intron_variant LIRI-JP 2 61675162 61675162 single base substitution T C intron_variant LIRI-JP 2 61675530 61675530 single base substitution T G intron_variant LIRI-JP 2 61676429 61676429 single base substitution T C intron_variant LIRI-JP 2 61676611 61676611 single base substitution A C intron_variant LIRI-JP 2 61682527 61682527 single base substitution G A intron_variant LIRI-JP 2 61684240 61684240 single base substitution G A intron_variant LIRI-JP 2 61684858 61684858 single base substitution T C intron_variant LIRI-JP 2 61689043 61689043 single base substitution G C intron_variant LIRI-JP 2 61692315 61692315 single base substitution T C intron_variant LIRI-JP 2 61692972 61692972 single base substitution C T intron_variant LIRI-JP 2 61693079 61693079 single base substitution T C intron_variant LIRI-JP 2 61693359 61693359 single base substitution A G intron_variant LIRI-JP 2 61694959 61694959 single base substitution T C intron_variant LIRI-JP 2 61699358 61699358 single base substitution C G upstream_gene_variant LIRI-JP 2 61699793 61699793 single base substitution A C upstream_gene_variant LIRI-JP 2 61699971 61699971 single base substitution T A upstream_gene_variant LIRI-JP 2 61702438 61702438 single base substitution T A upstream_gene_variant LIRI-JP 2 61702511 61702511 single base substitution A T upstream_gene_variant LIRI-JP 2 61702809 61702809 single base substitution A G upstream_gene_variant LUSC-KR 2 61412235 61412235 single base substitution A G downstream_gene_variant LUSC-KR 2 61414478 61414478 single base substitution C T downstream_gene_variant LUSC-KR 2 61418599 61418599 single base substitution C T intron_variant LUSC-KR 2 61418599 61418599 single base substitution C T upstream_gene_variant LUSC-KR 2 61421516 61421516 single base substitution G A intron_variant LUSC-KR 2 61421516 61421516 single base substitution G A upstream_gene_variant LUSC-KR 2 61433846 61433846 single base substitution C G downstream_gene_variant LUSC-KR 2 61433846 61433846 single base substitution C G intron_variant LUSC-KR 2 61433846 61433846 single base substitution C G upstream_gene_variant LUSC-KR 2 61435751 61435751 single base substitution C G downstream_gene_variant LUSC-KR 2 61435751 61435751 single base substitution C G exon_variant LUSC-KR 2 61435751 61435751 single base substitution C G intron_variant LUSC-KR 2 61435751 61435751 single base substitution C G upstream_gene_variant LUSC-KR 2 61435847 61435847 single base substitution G A downstream_gene_variant LUSC-KR 2 61435847 61435847 single base substitution G A exon_variant LUSC-KR 2 61435847 61435847 single base substitution G A intron_variant LUSC-KR 2 61435847 61435847 single base substitution G A upstream_gene_variant LUSC-KR 2 61439206 61439206 single base substitution C T downstream_gene_variant LUSC-KR 2 61439206 61439206 single base substitution C T intron_variant LUSC-KR 2 61444254 61444254 single base substitution C T downstream_gene_variant LUSC-KR 2 61444254 61444254 single base substitution C T intron_variant LUSC-KR 2 61444254 61444254 single base substitution C T upstream_gene_variant LUSC-KR 2 61444274 61444274 single base substitution T C downstream_gene_variant LUSC-KR 2 61444274 61444274 single base substitution T C intron_variant LUSC-KR 2 61444274 61444274 single base substitution T C upstream_gene_variant LUSC-KR 2 61446137 61446137 single base substitution C T downstream_gene_variant LUSC-KR 2 61446137 61446137 single base substitution C T intron_variant LUSC-KR 2 61446137 61446137 single base substitution C T upstream_gene_variant LUSC-KR 2 61448161 61448161 single base substitution G C downstream_gene_variant LUSC-KR 2 61448161 61448161 single base substitution G C intron_variant LUSC-KR 2 61448161 61448161 single base substitution G C upstream_gene_variant LUSC-KR 2 61448776 61448776 single base substitution A C downstream_gene_variant LUSC-KR 2 61448776 61448776 single base substitution A C exon_variant LUSC-KR 2 61448776 61448776 single base substitution A C intron_variant LUSC-KR 2 61448776 61448776 single base substitution A C upstream_gene_variant LUSC-KR 2 61449457 61449457 single base substitution T C downstream_gene_variant LUSC-KR 2 61449457 61449457 single base substitution T C intron_variant LUSC-KR 2 61449457 61449457 single base substitution T C upstream_gene_variant LUSC-KR 2 61450454 61450454 single base substitution A G downstream_gene_variant LUSC-KR 2 61450454 61450454 single base substitution A G exon_variant LUSC-KR 2 61450454 61450454 single base substitution A G intron_variant LUSC-KR 2 61450454 61450454 single base substitution A G upstream_gene_variant LUSC-KR 2 61456624 61456624 single base substitution C A intron_variant LUSC-KR 2 61457682 61457682 single base substitution C G intron_variant LUSC-KR 2 61459350 61459350 single base substitution C G intron_variant LUSC-KR 2 61459469 61459469 single base substitution G T intron_variant LUSC-KR 2 61459739 61459739 single base substitution G A intron_variant LUSC-KR 2 61459927 61459927 single base substitution C A intron_variant LUSC-KR 2 61465394 61465394 single base substitution C A intron_variant LUSC-KR 2 61468495 61468495 single base substitution A T intron_variant LUSC-KR 2 61470375 61470375 single base substitution G C intron_variant LUSC-KR 2 61470375 61470375 single base substitution G C upstream_gene_variant LUSC-KR 2 61470642 61470642 single base substitution T A intron_variant LUSC-KR 2 61470642 61470642 single base substitution T A upstream_gene_variant LUSC-KR 2 61474620 61474620 single base substitution T C intron_variant LUSC-KR 2 61475731 61475731 single base substitution C A exon_variant LUSC-KR 2 61475731 61475731 single base substitution C A intron_variant LUSC-KR 2 61475731 61475731 single base substitution C A synonymous_variant V2103V 6309G>T LUSC-KR 2 61475731 61475731 single base substitution C A synonymous_variant V381V 1143G>T LUSC-KR 2 61479233 61479233 single base substitution T A intron_variant LUSC-KR 2 61480120 61480120 single base substitution T C intron_variant LUSC-KR 2 61482861 61482861 single base substitution C G intron_variant LUSC-KR 2 61483781 61483781 single base substitution C G intron_variant LUSC-KR 2 61484556 61484556 single base substitution T C intron_variant LUSC-KR 2 61484556 61484556 single base substitution T C upstream_gene_variant LUSC-KR 2 61488361 61488361 single base substitution T C downstream_gene_variant LUSC-KR 2 61488361 61488361 single base substitution T C intron_variant LUSC-KR 2 61488361 61488361 single base substitution T C upstream_gene_variant LUSC-KR 2 61490635 61490635 single base substitution G T downstream_gene_variant LUSC-KR 2 61490635 61490635 single base substitution G T intron_variant LUSC-KR 2 61500074 61500074 single base substitution G C downstream_gene_variant LUSC-KR 2 61500074 61500074 single base substitution G C intron_variant LUSC-KR 2 61503481 61503481 single base substitution A G downstream_gene_variant LUSC-KR 2 61503481 61503481 single base substitution A G intron_variant LUSC-KR 2 61512101 61512101 single base substitution C G intron_variant LUSC-KR 2 61512101 61512101 single base substitution C G upstream_gene_variant LUSC-KR 2 61514290 61514290 single base substitution T A intron_variant LUSC-KR 2 61517801 61517801 single base substitution G C intron_variant LUSC-KR 2 61517972 61517972 single base substitution G C intron_variant LUSC-KR 2 61521986 61521986 single base substitution T C intron_variant LUSC-KR 2 61522047 61522047 single base substitution T C intron_variant LUSC-KR 2 61522905 61522905 single base substitution A G intron_variant LUSC-KR 2 61526024 61526024 single base substitution T A intron_variant LUSC-KR 2 61527753 61527753 single base substitution A G intron_variant LUSC-KR 2 61528097 61528097 single base substitution C T exon_variant LUSC-KR 2 61528097 61528097 single base substitution C T missense_variant D1373N 4117G>A LUSC-KR 2 61530409 61530409 single base substitution C A intron_variant LUSC-KR 2 61530409 61530409 single base substitution C A upstream_gene_variant LUSC-KR 2 61531762 61531762 single base substitution G C intron_variant LUSC-KR 2 61531762 61531762 single base substitution G C upstream_gene_variant LUSC-KR 2 61535691 61535691 single base substitution G A intron_variant LUSC-KR 2 61543142 61543142 single base substitution C T intron_variant LUSC-KR 2 61547910 61547910 single base substitution C T intron_variant LUSC-KR 2 61552484 61552484 single base substitution T A intron_variant LUSC-KR 2 61558682 61558682 single base substitution T C intron_variant LUSC-KR 2 61565495 61565495 single base substitution T C downstream_gene_variant LUSC-KR 2 61565495 61565495 single base substitution T C intron_variant LUSC-KR 2 61566973 61566973 single base substitution T C intron_variant LUSC-KR 2 61568747 61568747 single base substitution C G intron_variant LUSC-KR 2 61570528 61570528 single base substitution C A downstream_gene_variant LUSC-KR 2 61570528 61570528 single base substitution C A intron_variant LUSC-KR 2 61574341 61574341 single base substitution C T downstream_gene_variant LUSC-KR 2 61574341 61574341 single base substitution C T intron_variant LUSC-KR 2 61575220 61575220 single base substitution T G downstream_gene_variant LUSC-KR 2 61575220 61575220 single base substitution T G synonymous_variant R690R 2070A>C LUSC-KR 2 61575220 61575220 single base substitution T G upstream_gene_variant LUSC-KR 2 61576411 61576411 single base substitution T C 3_prime_UTR_variant LUSC-KR 2 61576411 61576411 single base substitution T C missense_variant E506G 1517A>G LUSC-KR 2 61576411 61576411 single base substitution T C upstream_gene_variant LUSC-KR 2 61577399 61577399 single base substitution C G 3_prime_UTR_variant LUSC-KR 2 61577399 61577399 single base substitution C G missense_variant K501N 1503G>C LUSC-KR 2 61577399 61577399 single base substitution C G upstream_gene_variant LUSC-KR 2 61577826 61577826 single base substitution C T splice_region_variant LUSC-KR 2 61577826 61577826 single base substitution C T upstream_gene_variant LUSC-KR 2 61577949 61577949 single base substitution C T intron_variant LUSC-KR 2 61577949 61577949 single base substitution C T upstream_gene_variant LUSC-KR 2 61578533 61578533 single base substitution C T intron_variant LUSC-KR 2 61578533 61578533 single base substitution C T upstream_gene_variant LUSC-KR 2 61585814 61585814 single base substitution C T intron_variant LUSC-KR 2 61595515 61595515 single base substitution C T intron_variant LUSC-KR 2 61596109 61596109 single base substitution A G intron_variant LUSC-KR 2 61596805 61596805 single base substitution T A intron_variant LUSC-KR 2 61597616 61597616 single base substitution T C intron_variant LUSC-KR 2 61599850 61599850 single base substitution A G intron_variant LUSC-KR 2 61599980 61599980 single base substitution G T intron_variant LUSC-KR 2 61603899 61603899 single base substitution C A intron_variant LUSC-KR 2 61605379 61605379 single base substitution C A intron_variant LUSC-KR 2 61605614 61605614 single base substitution T A intron_variant LUSC-KR 2 61612873 61612873 single base substitution A T intron_variant LUSC-KR 2 61618712 61618712 single base substitution T C intron_variant LUSC-KR 2 61618713 61618713 single base substitution C A intron_variant LUSC-KR 2 61618987 61618987 single base substitution T C intron_variant LUSC-KR 2 61623714 61623714 single base substitution C A intron_variant LUSC-KR 2 61623975 61623975 single base substitution G A intron_variant LUSC-KR 2 61630519 61630519 single base substitution G C intron_variant LUSC-KR 2 61631636 61631636 single base substitution T A intron_variant LUSC-KR 2 61633305 61633305 single base substitution C T intron_variant LUSC-KR 2 61636512 61636512 single base substitution T C intron_variant LUSC-KR 2 61639343 61639343 single base substitution G A intron_variant LUSC-KR 2 61640643 61640643 single base substitution A C intron_variant LUSC-KR 2 61640891 61640891 single base substitution T C intron_variant LUSC-KR 2 61640914 61640914 single base substitution C A intron_variant LUSC-KR 2 61641131 61641131 single base substitution A G intron_variant LUSC-KR 2 61644329 61644329 single base substitution C G intron_variant LUSC-KR 2 61644748 61644748 single base substitution T G intron_variant LUSC-KR 2 61647901 61647901 single base substitution A G exon_variant LUSC-KR 2 61647901 61647901 single base substitution A G synonymous_variant Y37Y 111T>C LUSC-KR 2 61654141 61654141 single base substitution C T intron_variant LUSC-KR 2 61657466 61657466 single base substitution G A intron_variant LUSC-KR 2 61669257 61669257 single base substitution C G intron_variant LUSC-KR 2 61675627 61675627 single base substitution G C intron_variant LUSC-KR 2 61679058 61679058 single base substitution C A intron_variant LUSC-KR 2 61679921 61679921 single base substitution G A intron_variant LUSC-KR 2 61682248 61682248 single base substitution C A intron_variant LUSC-KR 2 61686299 61686299 single base substitution A T intron_variant LUSC-KR 2 61690330 61690330 single base substitution C A intron_variant LUSC-KR 2 61690331 61690331 single base substitution C A intron_variant LUSC-KR 2 61691796 61691796 single base substitution G A intron_variant LUSC-KR 2 61692563 61692563 single base substitution C G intron_variant LUSC-KR 2 61692575 61692575 single base substitution C T intron_variant LUSC-KR 2 61694526 61694526 single base substitution C A intron_variant LUSC-KR 2 61697667 61697667 single base substitution C A intron_variant LUSC-KR 2 61698019 61698019 single base substitution G A upstream_gene_variant LUSC-KR 2 61699369 61699369 single base substitution C G upstream_gene_variant LUSC-KR 2 61702581 61702581 single base substitution T A upstream_gene_variant LUSC-US 2 61412642 61412642 single base substitution G C downstream_gene_variant LUSC-US 2 61413610 61413610 single base substitution G T downstream_gene_variant LUSC-US 2 61415429 61415429 single base substitution C G downstream_gene_variant LUSC-US 2 61415429 61415429 single base substitution C G missense_variant L1159F 3477G>C LUSC-US 2 61415429 61415429 single base substitution C G missense_variant L3483F 10449G>C LUSC-US 2 61415429 61415429 single base substitution C G missense_variant L361F 1083G>C LUSC-US 2 61417456 61417456 single base substitution C G downstream_gene_variant LUSC-US 2 61417456 61417456 single base substitution C G exon_variant LUSC-US 2 61417456 61417456 single base substitution C G missense_variant D153H 457G>C LUSC-US 2 61417456 61417456 single base substitution C G missense_variant D3275H 9823G>C LUSC-US 2 61417456 61417456 single base substitution C G missense_variant D951H 2851G>C LUSC-US 2 61417456 61417456 single base substitution C G upstream_gene_variant LUSC-US 2 61417463 61417463 single base substitution T A downstream_gene_variant LUSC-US 2 61417463 61417463 single base substitution T A exon_variant LUSC-US 2 61417463 61417463 single base substitution T A synonymous_variant L150L 450A>T LUSC-US 2 61417463 61417463 single base substitution T A synonymous_variant L3272L 9816A>T LUSC-US 2 61417463 61417463 single base substitution T A synonymous_variant L948L 2844A>T LUSC-US 2 61417463 61417463 single base substitution T A upstream_gene_variant LUSC-US 2 61439041 61439041 single base substitution C A downstream_gene_variant LUSC-US 2 61439041 61439041 single base substitution C A exon_variant LUSC-US 2 61439041 61439041 single base substitution C A synonymous_variant L2902L 8706G>T LUSC-US 2 61439041 61439041 single base substitution C A synonymous_variant L661L 1983G>T LUSC-US 2 61441365 61441365 single base substitution G T downstream_gene_variant LUSC-US 2 61441365 61441365 single base substitution G T exon_variant LUSC-US 2 61441365 61441365 single base substitution G T intron_variant LUSC-US 2 61441365 61441365 single base substitution G T missense_variant H2838N 8512C>A LUSC-US 2 61441365 61441365 single base substitution G T missense_variant H597N 1789C>A LUSC-US 2 61441575 61441575 single base substitution C G downstream_gene_variant LUSC-US 2 61441575 61441575 single base substitution C G intron_variant LUSC-US 2 61441575 61441575 single base substitution C G missense_variant E2768Q 8302G>C LUSC-US 2 61441575 61441575 single base substitution C G missense_variant E527Q 1579G>C LUSC-US 2 61459593 61459593 single base substitution C T exon_variant LUSC-US 2 61459593 61459593 single base substitution C T intron_variant LUSC-US 2 61459593 61459593 single base substitution C T synonymous_variant V128V 384G>A LUSC-US 2 61459593 61459593 single base substitution C T synonymous_variant V2369V 7107G>A LUSC-US 2 61459593 61459593 single base substitution C T synonymous_variant V647V 1941G>A LUSC-US 2 61459646 61459646 single base substitution C G exon_variant LUSC-US 2 61459646 61459646 single base substitution C G intron_variant LUSC-US 2 61459646 61459646 single base substitution C G missense_variant D111H 331G>C LUSC-US 2 61459646 61459646 single base substitution C G missense_variant D2352H 7054G>C LUSC-US 2 61459646 61459646 single base substitution C G missense_variant D630H 1888G>C LUSC-US 2 61463362 61463362 single base substitution C A exon_variant LUSC-US 2 61463362 61463362 single base substitution C A intron_variant LUSC-US 2 61463362 61463362 single base substitution C A missense_variant W2284C 6852G>T LUSC-US 2 61463362 61463362 single base substitution C A missense_variant W43C 129G>T LUSC-US 2 61463362 61463362 single base substitution C A missense_variant W562C 1686G>T LUSC-US 2 61463468 61463468 single base substitution T C exon_variant LUSC-US 2 61463468 61463468 single base substitution T C intron_variant LUSC-US 2 61463468 61463468 single base substitution T C synonymous_variant T2278T 6834A>G LUSC-US 2 61463468 61463468 single base substitution T C synonymous_variant T37T 111A>G LUSC-US 2 61463468 61463468 single base substitution T C synonymous_variant T556T 1668A>G LUSC-US 2 61475683 61475683 single base substitution T A exon_variant LUSC-US 2 61475683 61475683 single base substitution T A intron_variant LUSC-US 2 61475683 61475683 single base substitution T A synonymous_variant T2119T 6357A>T LUSC-US 2 61475683 61475683 single base substitution T A synonymous_variant T397T 1191A>T LUSC-US 2 61510333 61510333 single base substitution C G intron_variant LUSC-US 2 61510333 61510333 single base substitution C G missense_variant D1649H 4945G>C LUSC-US 2 61510333 61510333 single base substitution C G upstream_gene_variant LUSC-US 2 61512052 61512052 single base substitution C T intron_variant LUSC-US 2 61512052 61512052 single base substitution C T missense_variant R1597Q 4790G>A LUSC-US 2 61512052 61512052 single base substitution C T upstream_gene_variant LUSC-US 2 61522091 61522091 single base substitution C A intron_variant LUSC-US 2 61522091 61522091 single base substitution C A missense_variant S1485I 4454G>T LUSC-US 2 61524017 61524017 single base substitution G C exon_variant LUSC-US 2 61524017 61524017 single base substitution G C missense_variant S1391C 4172C>G LUSC-US 2 61528293 61528293 single base substitution C A missense_variant M1307I 3921G>T LUSC-US 2 61528293 61528293 single base substitution C A upstream_gene_variant LUSC-US 2 61546343 61546343 single base substitution C A missense_variant G1045C 3133G>T LUSC-US 2 61558465 61558465 single base substitution T C missense_variant D959G 2876A>G LUSC-US 2 61561087 61561087 single base substitution G A missense_variant R922C 2764C>T LUSC-US 2 61575411 61575411 single base substitution C T 3_prime_UTR_variant LUSC-US 2 61575411 61575411 single base substitution C T missense_variant D627N 1879G>A LUSC-US 2 61575411 61575411 single base substitution C T upstream_gene_variant LUSC-US 2 61576402 61576402 single base substitution C G 3_prime_UTR_variant LUSC-US 2 61576402 61576402 single base substitution C G missense_variant R509T 1526G>C LUSC-US 2 61576402 61576402 single base substitution C G upstream_gene_variant LUSC-US 2 61597467 61597467 single base substitution C A 3_prime_UTR_variant LUSC-US 2 61597467 61597467 single base substitution C A missense_variant A414S 1240G>T LUSC-US 2 61607309 61607309 single base substitution T A 3_prime_UTR_variant LUSC-US 2 61607309 61607309 single base substitution T A missense_variant I337L 1009A>T LUSC-US 2 61622326 61622326 single base substitution C T intron_variant LUSC-US 2 61622326 61622326 single base substitution C T missense_variant D199N 595G>A LUSC-US 2 61633028 61633028 single base substitution C T intron_variant LUSC-US 2 61633028 61633028 single base substitution C T missense_variant E123K 367G>A MALY-DE 2 61420790 61420790 single base substitution T A intron_variant MALY-DE 2 61420790 61420790 single base substitution T A upstream_gene_variant MALY-DE 2 61433068 61433068 single base substitution A G downstream_gene_variant MALY-DE 2 61433068 61433068 single base substitution A G intron_variant MALY-DE 2 61433068 61433068 single base substitution A G upstream_gene_variant MALY-DE 2 61435793 61435793 single base substitution T C downstream_gene_variant MALY-DE 2 61435793 61435793 single base substitution T C exon_variant MALY-DE 2 61435793 61435793 single base substitution T C intron_variant MALY-DE 2 61435793 61435793 single base substitution T C upstream_gene_variant MALY-DE 2 61445067 61445067 single base substitution G A downstream_gene_variant MALY-DE 2 61445067 61445067 single base substitution G A intron_variant MALY-DE 2 61445067 61445067 single base substitution G A upstream_gene_variant MALY-DE 2 61450213 61450213 single base substitution A C downstream_gene_variant MALY-DE 2 61450213 61450213 single base substitution A C exon_variant MALY-DE 2 61450213 61450213 single base substitution A C intron_variant MALY-DE 2 61450213 61450213 single base substitution A C missense_variant N2577K 7731T>G MALY-DE 2 61450213 61450213 single base substitution A C missense_variant N336K 1008T>G MALY-DE 2 61450213 61450213 single base substitution A C upstream_gene_variant MALY-DE 2 61451507 61451507 single base substitution A T downstream_gene_variant MALY-DE 2 61451507 61451507 single base substitution A T intron_variant MALY-DE 2 61451507 61451507 single base substitution A T upstream_gene_variant MALY-DE 2 61452886 61452886 single base substitution A T downstream_gene_variant MALY-DE 2 61452886 61452886 single base substitution A T intron_variant MALY-DE 2 61452886 61452886 single base substitution A T upstream_gene_variant MALY-DE 2 61455030 61455030 single base substitution C T intron_variant MALY-DE 2 61455030 61455030 single base substitution C T upstream_gene_variant MALY-DE 2 61457033 61457033 single base substitution A G intron_variant MALY-DE 2 61464671 61464671 single base substitution T A intron_variant MALY-DE 2 61465320 61465320 single base substitution C T intron_variant MALY-DE 2 61475461 61475461 single base substitution A C intron_variant MALY-DE 2 61476831 61476831 single base substitution G C intron_variant MALY-DE 2 61477208 61477208 single base substitution C T intron_variant MALY-DE 2 61480147 61480147 single base substitution A G intron_variant MALY-DE 2 61483163 61483163 single base substitution C T intron_variant MALY-DE 2 61484012 61484012 single base substitution A C exon_variant MALY-DE 2 61484012 61484012 single base substitution A C intron_variant MALY-DE 2 61484012 61484012 single base substitution A C missense_variant I2041S 6122T>G MALY-DE 2 61484012 61484012 single base substitution A C missense_variant I319S 956T>G MALY-DE 2 61485955 61485955 single base substitution A G intron_variant MALY-DE 2 61485955 61485955 single base substitution A G upstream_gene_variant MALY-DE 2 61486081 61486081 single base substitution T C intron_variant MALY-DE 2 61486081 61486081 single base substitution T C upstream_gene_variant MALY-DE 2 61500381 61500381 single base substitution T C downstream_gene_variant MALY-DE 2 61500381 61500381 single base substitution T C intron_variant MALY-DE 2 61510251 61510251 single base substitution A T intron_variant MALY-DE 2 61510251 61510251 single base substitution A T upstream_gene_variant MALY-DE 2 61512343 61512343 single base substitution T A intron_variant MALY-DE 2 61512343 61512343 single base substitution T A upstream_gene_variant MALY-DE 2 61512448 61512449 deletion of <=200bp CT - intron_variant MALY-DE 2 61512448 61512449 deletion of <=200bp CT - upstream_gene_variant MALY-DE 2 61513755 61513755 single base substitution A T intron_variant MALY-DE 2 61524694 61524694 single base substitution A G intron_variant MALY-DE 2 61524761 61524761 single base substitution A T intron_variant MALY-DE 2 61524801 61524801 single base substitution A T intron_variant MALY-DE 2 61524808 61524808 single base substitution A G intron_variant MALY-DE 2 61524876 61524876 single base substitution A G intron_variant MALY-DE 2 61530236 61530236 single base substitution C A intron_variant MALY-DE 2 61530236 61530236 single base substitution C A upstream_gene_variant MALY-DE 2 61538305 61538305 single base substitution T C intron_variant MALY-DE 2 61539613 61539613 single base substitution A G intron_variant MALY-DE 2 61539672 61539672 single base substitution A G intron_variant MALY-DE 2 61541197 61541197 single base substitution T G intron_variant MALY-DE 2 61542810 61542810 single base substitution T C intron_variant MALY-DE 2 61546267 61546267 single base substitution A G intron_variant MALY-DE 2 61548920 61548920 single base substitution G A intron_variant MALY-DE 2 61551265 61551265 single base substitution A T intron_variant MALY-DE 2 61566478 61566478 single base substitution C A downstream_gene_variant MALY-DE 2 61566478 61566478 single base substitution C A splice_region_variant MALY-DE 2 61567309 61567309 single base substitution G A intron_variant MALY-DE 2 61570807 61570807 single base substitution A G downstream_gene_variant MALY-DE 2 61570807 61570807 single base substitution A G intron_variant MALY-DE 2 61571086 61571086 single base substitution A T downstream_gene_variant MALY-DE 2 61571086 61571086 single base substitution A T exon_variant MALY-DE 2 61571086 61571086 single base substitution A T missense_variant N788K 2364T>A MALY-DE 2 61572184 61572184 single base substitution G A downstream_gene_variant MALY-DE 2 61572184 61572184 single base substitution G A intron_variant MALY-DE 2 61578983 61578983 single base substitution C A intron_variant MALY-DE 2 61578983 61578983 single base substitution C A upstream_gene_variant MALY-DE 2 61584478 61584478 single base substitution A G intron_variant MALY-DE 2 61588905 61588905 single base substitution A T intron_variant MALY-DE 2 61590322 61590322 insertion of <=200bp - T intron_variant MALY-DE 2 61591718 61591718 single base substitution C A intron_variant MALY-DE 2 61595652 61595652 single base substitution T A intron_variant MALY-DE 2 61596993 61596993 single base substitution A G intron_variant MALY-DE 2 61598700 61598700 insertion of <=200bp - T intron_variant MALY-DE 2 61600916 61600916 single base substitution T C intron_variant MALY-DE 2 61602929 61602937 deletion of <=200bp AGTAGAAAC - intron_variant MALY-DE 2 61611262 61611262 single base substitution A C intron_variant MALY-DE 2 61613791 61613791 single base substitution G A intron_variant MALY-DE 2 61614366 61614366 single base substitution C A intron_variant MALY-DE 2 61614367 61614367 single base substitution A G intron_variant MALY-DE 2 61614724 61614724 single base substitution A T intron_variant MALY-DE 2 61622885 61622885 single base substitution C A intron_variant MALY-DE 2 61623972 61623972 single base substitution G A intron_variant MALY-DE 2 61625763 61625763 single base substitution A G intron_variant MALY-DE 2 61630170 61630170 single base substitution T C intron_variant MALY-DE 2 61633944 61633944 single base substitution A T intron_variant MALY-DE 2 61634986 61634986 single base substitution A G intron_variant MALY-DE 2 61643340 61643340 single base substitution A G intron_variant MALY-DE 2 61643342 61643342 single base substitution A G intron_variant MALY-DE 2 61651388 61651388 single base substitution C T intron_variant MALY-DE 2 61652602 61652602 single base substitution T A intron_variant MALY-DE 2 61657365 61657365 single base substitution A T intron_variant MALY-DE 2 61664801 61664801 single base substitution G C intron_variant MALY-DE 2 61665405 61665405 single base substitution G T intron_variant MALY-DE 2 61665452 61665452 single base substitution A C intron_variant MALY-DE 2 61668532 61668532 single base substitution T G intron_variant MALY-DE 2 61668757 61668757 single base substitution G A intron_variant MALY-DE 2 61668977 61668977 single base substitution A G intron_variant MALY-DE 2 61669207 61669207 single base substitution A G intron_variant MALY-DE 2 61669291 61669291 single base substitution C T intron_variant MALY-DE 2 61672515 61672515 single base substitution A T intron_variant MALY-DE 2 61673852 61673852 single base substitution A G intron_variant MALY-DE 2 61678643 61678643 single base substitution C G intron_variant MALY-DE 2 61680165 61680165 single base substitution A T intron_variant MALY-DE 2 61684251 61684251 single base substitution A G intron_variant MALY-DE 2 61686061 61686061 single base substitution C A intron_variant MALY-DE 2 61687513 61687513 single base substitution G C intron_variant MALY-DE 2 61687524 61687524 single base substitution C G intron_variant MALY-DE 2 61688390 61688390 single base substitution T C intron_variant MALY-DE 2 61691576 61691576 single base substitution T C intron_variant MALY-DE 2 61693722 61693722 single base substitution A C intron_variant MALY-DE 2 61702115 61702115 single base substitution C T upstream_gene_variant MELA-AU 2 61410119 61410119 single base substitution G C downstream_gene_variant MELA-AU 2 61410372 61410372 single base substitution A G downstream_gene_variant MELA-AU 2 61410813 61410813 single base substitution C T downstream_gene_variant MELA-AU 2 61411227 61411227 single base substitution G C downstream_gene_variant MELA-AU 2 61411490 61411490 single base substitution C T downstream_gene_variant MELA-AU 2 61412663 61412663 single base substitution G T downstream_gene_variant MELA-AU 2 61413535 61413535 single base substitution G A downstream_gene_variant MELA-AU 2 61413573 61413574 multiple base substitution (>=2bp and <=200bp) CT TA downstream_gene_variant MELA-AU 2 61414772 61414772 single base substitution C T 3_prime_UTR_variant MELA-AU 2 61414772 61414772 single base substitution C T downstream_gene_variant MELA-AU 2 61415507 61415507 single base substitution C T downstream_gene_variant MELA-AU 2 61415507 61415507 single base substitution C T synonymous_variant K1133K 3399G>A MELA-AU 2 61415507 61415507 single base substitution C T synonymous_variant K335K 1005G>A MELA-AU 2 61415507 61415507 single base substitution C T synonymous_variant K3457K 10371G>A MELA-AU 2 61415746 61415747 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 2 61415746 61415747 multiple base substitution (>=2bp and <=200bp) CC AT exon_variant MELA-AU 2 61415746 61415747 multiple base substitution (>=2bp and <=200bp) CC AT stop_gained RE1053R* MELA-AU 2 61415746 61415747 multiple base substitution (>=2bp and <=200bp) CC AT stop_gained RE255R* MELA-AU 2 61415746 61415747 multiple base substitution (>=2bp and <=200bp) CC AT stop_gained RE3377R* MELA-AU 2 61416152 61416152 single base substitution T A downstream_gene_variant MELA-AU 2 61416152 61416152 single base substitution T A exon_variant MELA-AU 2 61416152 61416152 single base substitution T A missense_variant N187I 560A>T MELA-AU 2 61416152 61416152 single base substitution T A missense_variant N3309I 9926A>T MELA-AU 2 61416152 61416152 single base substitution T A missense_variant N985I 2954A>T MELA-AU 2 61420484 61420484 single base substitution G A exon_variant MELA-AU 2 61420484 61420484 single base substitution G A intron_variant MELA-AU 2 61420484 61420484 single base substitution G A upstream_gene_variant MELA-AU 2 61420582 61420582 single base substitution C A intron_variant MELA-AU 2 61420582 61420582 single base substitution C A upstream_gene_variant MELA-AU 2 61421256 61421256 single base substitution G A intron_variant MELA-AU 2 61421256 61421256 single base substitution G A upstream_gene_variant MELA-AU 2 61423051 61423051 single base substitution C T intron_variant MELA-AU 2 61423051 61423051 single base substitution C T upstream_gene_variant MELA-AU 2 61424648 61424648 single base substitution A G intron_variant MELA-AU 2 61424648 61424648 single base substitution A G upstream_gene_variant MELA-AU 2 61424858 61424858 single base substitution G A intron_variant MELA-AU 2 61424858 61424858 single base substitution G A upstream_gene_variant MELA-AU 2 61425380 61425381 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 61425380 61425381 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 61425911 61425911 single base substitution G A intron_variant MELA-AU 2 61426110 61426110 single base substitution T C intron_variant MELA-AU 2 61426481 61426481 single base substitution C T intron_variant MELA-AU 2 61427386 61427386 single base substitution C T downstream_gene_variant MELA-AU 2 61427386 61427386 single base substitution C T intron_variant MELA-AU 2 61428805 61428805 single base substitution C T downstream_gene_variant MELA-AU 2 61428805 61428805 single base substitution C T intron_variant MELA-AU 2 61428933 61428933 single base substitution A C downstream_gene_variant MELA-AU 2 61428933 61428933 single base substitution A C intron_variant MELA-AU 2 61429156 61429156 single base substitution C T downstream_gene_variant MELA-AU 2 61429156 61429156 single base substitution C T intron_variant MELA-AU 2 61429457 61429457 single base substitution C T downstream_gene_variant MELA-AU 2 61429457 61429457 single base substitution C T intron_variant MELA-AU 2 61430430 61430430 single base substitution T C downstream_gene_variant MELA-AU 2 61430430 61430430 single base substitution T C intron_variant MELA-AU 2 61430444 61430444 single base substitution A G downstream_gene_variant MELA-AU 2 61430444 61430444 single base substitution A G intron_variant MELA-AU 2 61430732 61430732 single base substitution C T downstream_gene_variant MELA-AU 2 61430732 61430732 single base substitution C T intron_variant MELA-AU 2 61431812 61431812 single base substitution C T downstream_gene_variant MELA-AU 2 61431812 61431812 single base substitution C T intron_variant MELA-AU 2 61431812 61431812 single base substitution C T upstream_gene_variant MELA-AU 2 61432350 61432350 single base substitution A T downstream_gene_variant MELA-AU 2 61432350 61432350 single base substitution A T intron_variant MELA-AU 2 61432350 61432350 single base substitution A T upstream_gene_variant MELA-AU 2 61434984 61434984 single base substitution C T downstream_gene_variant MELA-AU 2 61434984 61434984 single base substitution C T exon_variant MELA-AU 2 61434984 61434984 single base substitution C T intron_variant MELA-AU 2 61434984 61434984 single base substitution C T upstream_gene_variant MELA-AU 2 61436408 61436408 single base substitution C T intron_variant MELA-AU 2 61436408 61436408 single base substitution C T upstream_gene_variant MELA-AU 2 61436861 61436861 single base substitution A G downstream_gene_variant MELA-AU 2 61436861 61436861 single base substitution A G intron_variant MELA-AU 2 61436978 61436978 single base substitution G A downstream_gene_variant MELA-AU 2 61436978 61436978 single base substitution G A intron_variant MELA-AU 2 61437150 61437150 single base substitution T C downstream_gene_variant MELA-AU 2 61437150 61437150 single base substitution T C intron_variant MELA-AU 2 61438597 61438597 single base substitution C G downstream_gene_variant MELA-AU 2 61438597 61438597 single base substitution C G intron_variant MELA-AU 2 61439787 61439788 multiple base substitution (>=2bp and <=200bp) AC CT downstream_gene_variant MELA-AU 2 61439787 61439788 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 2 61440054 61440054 single base substitution C A downstream_gene_variant MELA-AU 2 61440054 61440054 single base substitution C A intron_variant MELA-AU 2 61442145 61442145 single base substitution T A intron_variant MELA-AU 2 61442145 61442145 single base substitution T A upstream_gene_variant MELA-AU 2 61442778 61442778 single base substitution G A downstream_gene_variant MELA-AU 2 61442778 61442778 single base substitution G A intron_variant MELA-AU 2 61442778 61442778 single base substitution G A upstream_gene_variant MELA-AU 2 61444507 61444507 single base substitution T C downstream_gene_variant MELA-AU 2 61444507 61444507 single base substitution T C intron_variant MELA-AU 2 61444507 61444507 single base substitution T C upstream_gene_variant MELA-AU 2 61444519 61444519 single base substitution T C downstream_gene_variant MELA-AU 2 61444519 61444519 single base substitution T C intron_variant MELA-AU 2 61444519 61444519 single base substitution T C upstream_gene_variant MELA-AU 2 61445719 61445719 single base substitution C T downstream_gene_variant MELA-AU 2 61445719 61445719 single base substitution C T intron_variant MELA-AU 2 61445719 61445719 single base substitution C T upstream_gene_variant MELA-AU 2 61446188 61446188 single base substitution G A downstream_gene_variant MELA-AU 2 61446188 61446188 single base substitution G A intron_variant MELA-AU 2 61446188 61446188 single base substitution G A upstream_gene_variant MELA-AU 2 61446447 61446447 single base substitution C A downstream_gene_variant MELA-AU 2 61446447 61446447 single base substitution C A intron_variant MELA-AU 2 61446447 61446447 single base substitution C A upstream_gene_variant MELA-AU 2 61446927 61446927 single base substitution A G downstream_gene_variant MELA-AU 2 61446927 61446927 single base substitution A G intron_variant MELA-AU 2 61447543 61447543 single base substitution G C downstream_gene_variant MELA-AU 2 61447543 61447543 single base substitution G C exon_variant MELA-AU 2 61447543 61447543 single base substitution G C missense_variant T2650R 7949C>G MELA-AU 2 61447543 61447543 single base substitution G C missense_variant T409R 1226C>G MELA-AU 2 61447543 61447543 single base substitution G C upstream_gene_variant MELA-AU 2 61447738 61447738 single base substitution C A downstream_gene_variant MELA-AU 2 61447738 61447738 single base substitution C A intron_variant MELA-AU 2 61447738 61447738 single base substitution C A upstream_gene_variant MELA-AU 2 61447799 61447799 single base substitution T C downstream_gene_variant MELA-AU 2 61447799 61447799 single base substitution T C intron_variant MELA-AU 2 61447799 61447799 single base substitution T C upstream_gene_variant MELA-AU 2 61449312 61449312 single base substitution A G downstream_gene_variant MELA-AU 2 61449312 61449312 single base substitution A G intron_variant MELA-AU 2 61449312 61449312 single base substitution A G upstream_gene_variant MELA-AU 2 61450004 61450004 single base substitution C T downstream_gene_variant MELA-AU 2 61450004 61450004 single base substitution C T exon_variant MELA-AU 2 61450004 61450004 single base substitution C T intron_variant MELA-AU 2 61450004 61450004 single base substitution C T upstream_gene_variant MELA-AU 2 61450309 61450309 single base substitution G A downstream_gene_variant MELA-AU 2 61450309 61450309 single base substitution G A exon_variant MELA-AU 2 61450309 61450309 single base substitution G A intron_variant MELA-AU 2 61450309 61450309 single base substitution G A upstream_gene_variant MELA-AU 2 61450376 61450376 single base substitution G A downstream_gene_variant MELA-AU 2 61450376 61450376 single base substitution G A exon_variant MELA-AU 2 61450376 61450376 single base substitution G A intron_variant MELA-AU 2 61450376 61450376 single base substitution G A splice_region_variant MELA-AU 2 61450376 61450376 single base substitution G A upstream_gene_variant MELA-AU 2 61451097 61451097 single base substitution G A downstream_gene_variant MELA-AU 2 61451097 61451097 single base substitution G A intron_variant MELA-AU 2 61451097 61451097 single base substitution G A upstream_gene_variant MELA-AU 2 61451525 61451525 single base substitution C T downstream_gene_variant MELA-AU 2 61451525 61451525 single base substitution C T intron_variant MELA-AU 2 61451525 61451525 single base substitution C T upstream_gene_variant MELA-AU 2 61451622 61451622 single base substitution G A downstream_gene_variant MELA-AU 2 61451622 61451622 single base substitution G A intron_variant MELA-AU 2 61451622 61451622 single base substitution G A upstream_gene_variant MELA-AU 2 61452082 61452083 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 61452082 61452083 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 61452082 61452083 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 61453480 61453480 single base substitution C T downstream_gene_variant MELA-AU 2 61453480 61453480 single base substitution C T intron_variant MELA-AU 2 61453480 61453480 single base substitution C T upstream_gene_variant MELA-AU 2 61454211 61454211 single base substitution C T exon_variant MELA-AU 2 61454211 61454211 single base substitution C T intron_variant MELA-AU 2 61454211 61454211 single base substitution C T missense_variant R2529Q 7586G>A MELA-AU 2 61454211 61454211 single base substitution C T missense_variant R288Q 863G>A MELA-AU 2 61454211 61454211 single base substitution C T missense_variant R807Q 2420G>A MELA-AU 2 61454211 61454211 single base substitution C T upstream_gene_variant MELA-AU 2 61454372 61454372 single base substitution C T intron_variant MELA-AU 2 61454372 61454372 single base substitution C T upstream_gene_variant MELA-AU 2 61455203 61455203 single base substitution G A intron_variant MELA-AU 2 61455203 61455203 single base substitution G A upstream_gene_variant MELA-AU 2 61455763 61455763 single base substitution G A intron_variant MELA-AU 2 61455763 61455763 single base substitution G A upstream_gene_variant MELA-AU 2 61455823 61455823 single base substitution G A exon_variant MELA-AU 2 61455823 61455823 single base substitution G A intron_variant MELA-AU 2 61455823 61455823 single base substitution G A missense_variant S226F 677C>T MELA-AU 2 61455823 61455823 single base substitution G A missense_variant S2467F 7400C>T MELA-AU 2 61455823 61455823 single base substitution G A missense_variant S745F 2234C>T MELA-AU 2 61456172 61456172 single base substitution T C intron_variant MELA-AU 2 61457159 61457159 single base substitution A G intron_variant MELA-AU 2 61457425 61457425 single base substitution G A intron_variant MELA-AU 2 61457680 61457680 single base substitution A G intron_variant MELA-AU 2 61458216 61458216 single base substitution G A intron_variant MELA-AU 2 61458220 61458220 single base substitution C T intron_variant MELA-AU 2 61458632 61458632 single base substitution G A intron_variant MELA-AU 2 61458668 61458668 single base substitution G A intron_variant MELA-AU 2 61458668 61458668 single base substitution G T intron_variant MELA-AU 2 61459331 61459331 single base substitution A T intron_variant MELA-AU 2 61460118 61460118 single base substitution C T intron_variant MELA-AU 2 61460119 61460119 single base substitution C T intron_variant MELA-AU 2 61460489 61460489 single base substitution A C intron_variant MELA-AU 2 61461617 61461617 single base substitution G A intron_variant MELA-AU 2 61461868 61461869 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61462228 61462228 single base substitution C T intron_variant MELA-AU 2 61463325 61463325 single base substitution G A exon_variant MELA-AU 2 61463325 61463325 single base substitution G A intron_variant MELA-AU 2 61463325 61463325 single base substitution G A missense_variant P2297S 6889C>T MELA-AU 2 61463325 61463325 single base substitution G A missense_variant P56S 166C>T MELA-AU 2 61463325 61463325 single base substitution G A missense_variant P575S 1723C>T MELA-AU 2 61464727 61464727 single base substitution G A intron_variant MELA-AU 2 61465017 61465017 single base substitution C T intron_variant MELA-AU 2 61465290 61465290 single base substitution C A intron_variant MELA-AU 2 61466308 61466308 single base substitution G A intron_variant MELA-AU 2 61467474 61467474 single base substitution G A intron_variant MELA-AU 2 61467488 61467488 single base substitution G A intron_variant MELA-AU 2 61467857 61467857 single base substitution C A intron_variant MELA-AU 2 61468105 61468105 single base substitution C T intron_variant MELA-AU 2 61468325 61468325 single base substitution C G intron_variant MELA-AU 2 61468463 61468463 single base substitution C T intron_variant MELA-AU 2 61468670 61468670 single base substitution T C intron_variant MELA-AU 2 61469731 61469731 single base substitution G A intron_variant MELA-AU 2 61469731 61469731 single base substitution G A upstream_gene_variant MELA-AU 2 61469937 61469937 single base substitution G A intron_variant MELA-AU 2 61469937 61469937 single base substitution G A upstream_gene_variant MELA-AU 2 61470007 61470007 single base substitution G A intron_variant MELA-AU 2 61470007 61470007 single base substitution G A upstream_gene_variant MELA-AU 2 61471309 61471310 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61471309 61471310 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 61471317 61471317 single base substitution C T intron_variant MELA-AU 2 61471317 61471317 single base substitution C T upstream_gene_variant MELA-AU 2 61472246 61472246 single base substitution C T intron_variant MELA-AU 2 61472246 61472246 single base substitution C T upstream_gene_variant MELA-AU 2 61472287 61472287 single base substitution G A intron_variant MELA-AU 2 61472287 61472287 single base substitution G A upstream_gene_variant MELA-AU 2 61474060 61474060 single base substitution G A intron_variant MELA-AU 2 61475255 61475255 single base substitution G A intron_variant MELA-AU 2 61475673 61475673 single base substitution G A exon_variant MELA-AU 2 61475673 61475673 single base substitution G A intron_variant MELA-AU 2 61475673 61475673 single base substitution G A missense_variant L2123F 6367C>T MELA-AU 2 61475673 61475673 single base substitution G A missense_variant L401F 1201C>T MELA-AU 2 61475689 61475689 single base substitution G A exon_variant MELA-AU 2 61475689 61475689 single base substitution G A intron_variant MELA-AU 2 61475689 61475689 single base substitution G A synonymous_variant P2117P 6351C>T MELA-AU 2 61475689 61475689 single base substitution G A synonymous_variant P395P 1185C>T MELA-AU 2 61476624 61476624 single base substitution G A intron_variant MELA-AU 2 61477492 61477492 single base substitution C T intron_variant MELA-AU 2 61478252 61478252 single base substitution G A intron_variant MELA-AU 2 61478299 61478299 single base substitution A G intron_variant MELA-AU 2 61479541 61479541 single base substitution G A intron_variant MELA-AU 2 61480638 61480638 single base substitution A T intron_variant MELA-AU 2 61481138 61481138 single base substitution G A intron_variant MELA-AU 2 61481496 61481496 single base substitution G A intron_variant MELA-AU 2 61482031 61482031 single base substitution G A intron_variant MELA-AU 2 61482189 61482189 single base substitution A T intron_variant MELA-AU 2 61484234 61484234 single base substitution C T intron_variant MELA-AU 2 61484234 61484234 single base substitution C T missense_variant V2001I 6001G>A MELA-AU 2 61484234 61484234 single base substitution C T missense_variant V279I 835G>A MELA-AU 2 61484234 61484234 single base substitution C T upstream_gene_variant MELA-AU 2 61484861 61484861 single base substitution G A intron_variant MELA-AU 2 61484861 61484861 single base substitution G A upstream_gene_variant MELA-AU 2 61485773 61485773 single base substitution G A intron_variant MELA-AU 2 61485773 61485773 single base substitution G A upstream_gene_variant MELA-AU 2 61486075 61486075 single base substitution A T intron_variant MELA-AU 2 61486075 61486075 single base substitution A T upstream_gene_variant MELA-AU 2 61486402 61486402 single base substitution T A intron_variant MELA-AU 2 61486402 61486402 single base substitution T A upstream_gene_variant MELA-AU 2 61487721 61487721 single base substitution G A downstream_gene_variant MELA-AU 2 61487721 61487721 single base substitution G A intron_variant MELA-AU 2 61487721 61487721 single base substitution G A upstream_gene_variant MELA-AU 2 61487872 61487872 single base substitution G A downstream_gene_variant MELA-AU 2 61487872 61487872 single base substitution G A intron_variant MELA-AU 2 61487872 61487872 single base substitution G A upstream_gene_variant MELA-AU 2 61488189 61488189 single base substitution C G downstream_gene_variant MELA-AU 2 61488189 61488189 single base substitution C G intron_variant MELA-AU 2 61488189 61488189 single base substitution C G upstream_gene_variant MELA-AU 2 61488706 61488706 single base substitution G A downstream_gene_variant MELA-AU 2 61488706 61488706 single base substitution G A intron_variant MELA-AU 2 61488706 61488706 single base substitution G A upstream_gene_variant MELA-AU 2 61488758 61488758 single base substitution A T downstream_gene_variant MELA-AU 2 61488758 61488758 single base substitution A T intron_variant MELA-AU 2 61488758 61488758 single base substitution A T upstream_gene_variant MELA-AU 2 61488950 61488950 single base substitution G A downstream_gene_variant MELA-AU 2 61488950 61488950 single base substitution G A intron_variant MELA-AU 2 61488950 61488950 single base substitution G A upstream_gene_variant MELA-AU 2 61489641 61489641 single base substitution G A downstream_gene_variant MELA-AU 2 61489641 61489641 single base substitution G A intron_variant MELA-AU 2 61489647 61489647 single base substitution G A downstream_gene_variant MELA-AU 2 61489647 61489647 single base substitution G A intron_variant MELA-AU 2 61489789 61489789 single base substitution G A downstream_gene_variant MELA-AU 2 61489789 61489789 single base substitution G A intron_variant MELA-AU 2 61490305 61490305 single base substitution G A downstream_gene_variant MELA-AU 2 61490305 61490305 single base substitution G A intron_variant MELA-AU 2 61491562 61491562 single base substitution G A downstream_gene_variant MELA-AU 2 61491562 61491562 single base substitution G A intron_variant MELA-AU 2 61491816 61491816 single base substitution G A downstream_gene_variant MELA-AU 2 61491816 61491816 single base substitution G A intron_variant MELA-AU 2 61492549 61492549 single base substitution C A downstream_gene_variant MELA-AU 2 61492549 61492549 single base substitution C A exon_variant MELA-AU 2 61492549 61492549 single base substitution C A intron_variant MELA-AU 2 61492549 61492549 single base substitution C A missense_variant A1921S 5761G>T MELA-AU 2 61492549 61492549 single base substitution C A missense_variant A199S 595G>T MELA-AU 2 61492846 61492846 single base substitution G A exon_variant MELA-AU 2 61492846 61492846 single base substitution G A intron_variant MELA-AU 2 61493522 61493522 single base substitution G T intron_variant MELA-AU 2 61493522 61493522 single base substitution G T upstream_gene_variant MELA-AU 2 61493776 61493776 single base substitution G A intron_variant MELA-AU 2 61493776 61493776 single base substitution G A upstream_gene_variant MELA-AU 2 61495518 61495518 single base substitution T A intron_variant MELA-AU 2 61495518 61495518 single base substitution T A upstream_gene_variant MELA-AU 2 61496497 61496497 single base substitution C T intron_variant MELA-AU 2 61496497 61496497 single base substitution C T upstream_gene_variant MELA-AU 2 61496631 61496631 single base substitution C G intron_variant MELA-AU 2 61496631 61496631 single base substitution C G upstream_gene_variant MELA-AU 2 61496677 61496677 single base substitution A G intron_variant MELA-AU 2 61496677 61496677 single base substitution A G upstream_gene_variant MELA-AU 2 61497360 61497360 single base substitution A C intron_variant MELA-AU 2 61497360 61497360 single base substitution A C upstream_gene_variant MELA-AU 2 61497463 61497463 single base substitution G C intron_variant MELA-AU 2 61497463 61497463 single base substitution G C upstream_gene_variant MELA-AU 2 61498054 61498054 single base substitution T C intron_variant MELA-AU 2 61498054 61498054 single base substitution T C upstream_gene_variant MELA-AU 2 61498264 61498264 single base substitution A T intron_variant MELA-AU 2 61498749 61498749 single base substitution G A intron_variant MELA-AU 2 61498942 61498942 single base substitution A G intron_variant MELA-AU 2 61499168 61499168 single base substitution G A intron_variant MELA-AU 2 61499226 61499226 single base substitution C T intron_variant MELA-AU 2 61499238 61499238 single base substitution C T intron_variant MELA-AU 2 61499364 61499364 single base substitution G A intron_variant MELA-AU 2 61499533 61499533 single base substitution G A intron_variant MELA-AU 2 61500058 61500058 single base substitution A T downstream_gene_variant MELA-AU 2 61500058 61500058 single base substitution A T intron_variant MELA-AU 2 61500107 61500107 single base substitution A C downstream_gene_variant MELA-AU 2 61500107 61500107 single base substitution A C intron_variant MELA-AU 2 61500450 61500450 single base substitution C T downstream_gene_variant MELA-AU 2 61500450 61500450 single base substitution C T intron_variant MELA-AU 2 61500988 61500988 single base substitution A G downstream_gene_variant MELA-AU 2 61500988 61500988 single base substitution A G intron_variant MELA-AU 2 61501279 61501279 single base substitution C A downstream_gene_variant MELA-AU 2 61501279 61501279 single base substitution C A intron_variant MELA-AU 2 61501346 61501346 single base substitution G A downstream_gene_variant MELA-AU 2 61501346 61501346 single base substitution G A intron_variant MELA-AU 2 61501420 61501420 single base substitution G A downstream_gene_variant MELA-AU 2 61501420 61501420 single base substitution G A intron_variant MELA-AU 2 61501618 61501618 single base substitution A G downstream_gene_variant MELA-AU 2 61501618 61501618 single base substitution A G intron_variant MELA-AU 2 61502740 61502740 single base substitution G A downstream_gene_variant MELA-AU 2 61502740 61502740 single base substitution G A intron_variant MELA-AU 2 61502915 61502915 single base substitution A T downstream_gene_variant MELA-AU 2 61502915 61502915 single base substitution A T intron_variant MELA-AU 2 61503158 61503158 single base substitution T C downstream_gene_variant MELA-AU 2 61503158 61503158 single base substitution T C intron_variant MELA-AU 2 61503611 61503611 single base substitution G A downstream_gene_variant MELA-AU 2 61503611 61503611 single base substitution G A intron_variant MELA-AU 2 61504151 61504151 single base substitution A T downstream_gene_variant MELA-AU 2 61504151 61504151 single base substitution A T intron_variant MELA-AU 2 61504158 61504158 single base substitution G A downstream_gene_variant MELA-AU 2 61504158 61504158 single base substitution G A intron_variant MELA-AU 2 61505148 61505148 single base substitution G A exon_variant MELA-AU 2 61505148 61505148 single base substitution G A intron_variant MELA-AU 2 61505227 61505227 single base substitution G A exon_variant MELA-AU 2 61505227 61505227 single base substitution G A intron_variant MELA-AU 2 61505956 61505956 single base substitution G A intron_variant MELA-AU 2 61506218 61506218 single base substitution G A intron_variant MELA-AU 2 61506563 61506563 single base substitution G A intron_variant MELA-AU 2 61506962 61506962 single base substitution G A intron_variant MELA-AU 2 61507491 61507491 single base substitution A C intron_variant MELA-AU 2 61507491 61507491 single base substitution A C splice_region_variant MELA-AU 2 61507491 61507491 single base substitution A C upstream_gene_variant MELA-AU 2 61507521 61507521 single base substitution A G intron_variant MELA-AU 2 61507521 61507521 single base substitution A G upstream_gene_variant MELA-AU 2 61507616 61507616 single base substitution G A intron_variant MELA-AU 2 61507616 61507616 single base substitution G A upstream_gene_variant MELA-AU 2 61508179 61508179 single base substitution G A intron_variant MELA-AU 2 61508179 61508179 single base substitution G A upstream_gene_variant MELA-AU 2 61508884 61508884 single base substitution G A intron_variant MELA-AU 2 61508884 61508884 single base substitution G A upstream_gene_variant MELA-AU 2 61509228 61509228 single base substitution G A intron_variant MELA-AU 2 61509228 61509228 single base substitution G A upstream_gene_variant MELA-AU 2 61509485 61509485 single base substitution T A intron_variant MELA-AU 2 61509485 61509485 single base substitution T A upstream_gene_variant MELA-AU 2 61509851 61509852 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61509851 61509852 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 61510948 61510948 single base substitution G A intron_variant MELA-AU 2 61510948 61510948 single base substitution G A upstream_gene_variant MELA-AU 2 61511074 61511074 single base substitution G T intron_variant MELA-AU 2 61511074 61511074 single base substitution G T upstream_gene_variant MELA-AU 2 61511728 61511728 single base substitution G A intron_variant MELA-AU 2 61511728 61511728 single base substitution G A upstream_gene_variant MELA-AU 2 61512630 61512630 single base substitution A T intron_variant MELA-AU 2 61512630 61512630 single base substitution A T upstream_gene_variant MELA-AU 2 61513182 61513182 single base substitution G A intron_variant MELA-AU 2 61513182 61513182 single base substitution G A upstream_gene_variant MELA-AU 2 61513293 61513293 single base substitution G A intron_variant MELA-AU 2 61513790 61513790 single base substitution A G intron_variant MELA-AU 2 61513906 61513906 single base substitution G A intron_variant MELA-AU 2 61514031 61514031 single base substitution G A intron_variant MELA-AU 2 61514677 61514677 single base substitution A G intron_variant MELA-AU 2 61515526 61515526 single base substitution G A intron_variant MELA-AU 2 61517260 61517260 single base substitution G A intron_variant MELA-AU 2 61517723 61517723 single base substitution G A intron_variant MELA-AU 2 61520351 61520351 single base substitution G A intron_variant MELA-AU 2 61522232 61522232 single base substitution G A intron_variant MELA-AU 2 61522280 61522280 single base substitution G A intron_variant MELA-AU 2 61522757 61522757 single base substitution T A intron_variant MELA-AU 2 61522808 61522808 single base substitution G A intron_variant MELA-AU 2 61523059 61523060 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61523744 61523744 single base substitution T A intron_variant MELA-AU 2 61524941 61524941 single base substitution G A intron_variant MELA-AU 2 61525263 61525263 single base substitution G A intron_variant MELA-AU 2 61525918 61525918 single base substitution A T intron_variant MELA-AU 2 61526000 61526000 single base substitution A T intron_variant MELA-AU 2 61526040 61526040 single base substitution G A intron_variant MELA-AU 2 61526065 61526065 single base substitution C T intron_variant MELA-AU 2 61526413 61526413 single base substitution G A intron_variant MELA-AU 2 61527057 61527057 single base substitution G A intron_variant MELA-AU 2 61527473 61527473 single base substitution G T intron_variant MELA-AU 2 61527514 61527514 single base substitution G A intron_variant MELA-AU 2 61527560 61527560 single base substitution G A intron_variant MELA-AU 2 61527630 61527630 single base substitution T C intron_variant MELA-AU 2 61527958 61527958 single base substitution C A intron_variant MELA-AU 2 61528610 61528610 single base substitution G A intron_variant MELA-AU 2 61528610 61528610 single base substitution G A upstream_gene_variant MELA-AU 2 61528901 61528901 single base substitution G A intron_variant MELA-AU 2 61528901 61528901 single base substitution G A upstream_gene_variant MELA-AU 2 61529094 61529094 single base substitution A T intron_variant MELA-AU 2 61529094 61529094 single base substitution A T upstream_gene_variant MELA-AU 2 61529109 61529109 single base substitution G A intron_variant MELA-AU 2 61529109 61529109 single base substitution G A upstream_gene_variant MELA-AU 2 61529518 61529518 single base substitution G A intron_variant MELA-AU 2 61529518 61529518 single base substitution G A upstream_gene_variant MELA-AU 2 61530059 61530059 single base substitution G A intron_variant MELA-AU 2 61530059 61530059 single base substitution G A upstream_gene_variant MELA-AU 2 61530226 61530226 single base substitution G A intron_variant MELA-AU 2 61530226 61530226 single base substitution G A upstream_gene_variant MELA-AU 2 61531422 61531422 single base substitution G A intron_variant MELA-AU 2 61531422 61531422 single base substitution G A upstream_gene_variant MELA-AU 2 61532183 61532184 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61532183 61532184 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 61533397 61533398 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61534646 61534646 single base substitution G A intron_variant MELA-AU 2 61534667 61534667 single base substitution G A intron_variant MELA-AU 2 61534828 61534828 single base substitution G A intron_variant MELA-AU 2 61535160 61535160 single base substitution G A intron_variant MELA-AU 2 61535215 61535215 single base substitution G A intron_variant MELA-AU 2 61535866 61535866 single base substitution A C intron_variant MELA-AU 2 61535952 61535952 single base substitution G A intron_variant MELA-AU 2 61538196 61538196 single base substitution G A intron_variant MELA-AU 2 61538359 61538359 single base substitution G A intron_variant MELA-AU 2 61538629 61538629 single base substitution A G intron_variant MELA-AU 2 61538633 61538633 single base substitution A G intron_variant MELA-AU 2 61538649 61538649 single base substitution G A intron_variant MELA-AU 2 61538693 61538693 single base substitution G A stop_gained R1267* 3799C>T MELA-AU 2 61539077 61539077 single base substitution G A intron_variant MELA-AU 2 61539481 61539481 single base substitution G A intron_variant MELA-AU 2 61540220 61540220 single base substitution T C intron_variant MELA-AU 2 61540531 61540532 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61541408 61541408 single base substitution C T intron_variant MELA-AU 2 61542129 61542129 single base substitution T A intron_variant MELA-AU 2 61542141 61542141 single base substitution T C intron_variant MELA-AU 2 61543037 61543037 single base substitution G A intron_variant MELA-AU 2 61543359 61543359 single base substitution G A intron_variant MELA-AU 2 61543395 61543395 single base substitution G A intron_variant MELA-AU 2 61543780 61543780 single base substitution G A intron_variant MELA-AU 2 61543884 61543884 single base substitution G A intron_variant MELA-AU 2 61545149 61545149 single base substitution G A intron_variant MELA-AU 2 61545989 61545989 single base substitution G A intron_variant MELA-AU 2 61546038 61546039 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 2 61546617 61546617 single base substitution T C intron_variant MELA-AU 2 61547122 61547122 single base substitution C G intron_variant MELA-AU 2 61547186 61547186 single base substitution C T intron_variant MELA-AU 2 61547347 61547347 single base substitution T C intron_variant MELA-AU 2 61547536 61547537 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61547548 61547548 single base substitution G A intron_variant MELA-AU 2 61547567 61547567 single base substitution A T intron_variant MELA-AU 2 61548034 61548034 single base substitution A C intron_variant MELA-AU 2 61548214 61548215 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61548552 61548552 single base substitution G A intron_variant MELA-AU 2 61548779 61548779 single base substitution G A intron_variant MELA-AU 2 61548876 61548876 single base substitution C T intron_variant MELA-AU 2 61549014 61549014 single base substitution C T intron_variant MELA-AU 2 61549292 61549292 single base substitution G A intron_variant MELA-AU 2 61549604 61549604 single base substitution G A intron_variant MELA-AU 2 61550740 61550740 single base substitution G A intron_variant MELA-AU 2 61551047 61551047 single base substitution G A intron_variant MELA-AU 2 61552190 61552190 single base substitution G A intron_variant MELA-AU 2 61552256 61552256 single base substitution G A intron_variant MELA-AU 2 61552400 61552400 single base substitution T C intron_variant MELA-AU 2 61552733 61552733 single base substitution G A intron_variant MELA-AU 2 61553254 61553254 single base substitution G A intron_variant MELA-AU 2 61553291 61553291 single base substitution G A intron_variant MELA-AU 2 61554258 61554258 single base substitution A G intron_variant MELA-AU 2 61554383 61554383 single base substitution G A intron_variant MELA-AU 2 61554587 61554587 single base substitution G A intron_variant MELA-AU 2 61554996 61554996 single base substitution G A intron_variant MELA-AU 2 61556180 61556180 single base substitution G A intron_variant MELA-AU 2 61556539 61556539 single base substitution G A intron_variant MELA-AU 2 61557452 61557452 single base substitution C T intron_variant MELA-AU 2 61558364 61558364 single base substitution G A intron_variant MELA-AU 2 61558522 61558522 single base substitution G A intron_variant MELA-AU 2 61558561 61558561 single base substitution T C intron_variant MELA-AU 2 61559473 61559473 single base substitution G A intron_variant MELA-AU 2 61560177 61560177 single base substitution G A intron_variant MELA-AU 2 61560204 61560204 single base substitution C T intron_variant MELA-AU 2 61560531 61560531 single base substitution C T intron_variant MELA-AU 2 61561247 61561247 single base substitution C T intron_variant MELA-AU 2 61562596 61562596 single base substitution G A downstream_gene_variant MELA-AU 2 61562596 61562596 single base substitution G A intron_variant MELA-AU 2 61562904 61562904 single base substitution G A downstream_gene_variant MELA-AU 2 61562904 61562904 single base substitution G A intron_variant MELA-AU 2 61563241 61563241 single base substitution G A downstream_gene_variant MELA-AU 2 61563241 61563241 single base substitution G A intron_variant MELA-AU 2 61563527 61563527 single base substitution T C downstream_gene_variant MELA-AU 2 61563527 61563527 single base substitution T C intron_variant MELA-AU 2 61563568 61563568 single base substitution G A downstream_gene_variant MELA-AU 2 61563568 61563568 single base substitution G A intron_variant MELA-AU 2 61563648 61563648 single base substitution A G downstream_gene_variant MELA-AU 2 61563648 61563648 single base substitution A G intron_variant MELA-AU 2 61565174 61565174 single base substitution C T downstream_gene_variant MELA-AU 2 61565174 61565174 single base substitution C T intron_variant MELA-AU 2 61565431 61565431 single base substitution G A downstream_gene_variant MELA-AU 2 61565431 61565431 single base substitution G A intron_variant MELA-AU 2 61565575 61565576 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 2 61565575 61565576 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 2 61565583 61565583 single base substitution G A downstream_gene_variant MELA-AU 2 61565583 61565583 single base substitution G A intron_variant MELA-AU 2 61568096 61568097 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 61569087 61569087 single base substitution G A intron_variant MELA-AU 2 61569315 61569315 single base substitution A G intron_variant MELA-AU 2 61569324 61569325 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 61570576 61570576 single base substitution T C downstream_gene_variant MELA-AU 2 61570576 61570576 single base substitution T C intron_variant MELA-AU 2 61570774 61570774 single base substitution G A downstream_gene_variant MELA-AU 2 61570774 61570774 single base substitution G A intron_variant MELA-AU 2 61570988 61570988 single base substitution G A downstream_gene_variant MELA-AU 2 61570988 61570988 single base substitution G A exon_variant MELA-AU 2 61570988 61570988 single base substitution G A missense_variant P821L 2462C>T MELA-AU 2 61571964 61571964 single base substitution G A downstream_gene_variant MELA-AU 2 61571964 61571964 single base substitution G A intron_variant MELA-AU 2 61572275 61572276 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 61572275 61572276 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61573041 61573041 single base substitution G A downstream_gene_variant MELA-AU 2 61573041 61573041 single base substitution G A intron_variant MELA-AU 2 61573520 61573520 single base substitution G A downstream_gene_variant MELA-AU 2 61573520 61573520 single base substitution G A intron_variant MELA-AU 2 61574290 61574290 single base substitution A G downstream_gene_variant MELA-AU 2 61574290 61574290 single base substitution A G intron_variant MELA-AU 2 61574310 61574310 single base substitution A T downstream_gene_variant MELA-AU 2 61574310 61574310 single base substitution A T intron_variant MELA-AU 2 61574493 61574493 single base substitution A G downstream_gene_variant MELA-AU 2 61574493 61574493 single base substitution A G intron_variant MELA-AU 2 61575770 61575770 single base substitution A G intron_variant MELA-AU 2 61575770 61575770 single base substitution A G upstream_gene_variant MELA-AU 2 61575907 61575907 single base substitution C T 3_prime_UTR_variant MELA-AU 2 61575907 61575907 single base substitution C T missense_variant R553Q 1658G>A MELA-AU 2 61575907 61575907 single base substitution C T upstream_gene_variant MELA-AU 2 61576572 61576573 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61576572 61576573 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 61577022 61577022 single base substitution A T intron_variant MELA-AU 2 61577022 61577022 single base substitution A T upstream_gene_variant MELA-AU 2 61577239 61577239 single base substitution G A intron_variant MELA-AU 2 61577239 61577239 single base substitution G A upstream_gene_variant MELA-AU 2 61577649 61577649 single base substitution G A intron_variant MELA-AU 2 61577649 61577649 single base substitution G A upstream_gene_variant MELA-AU 2 61577683 61577683 single base substitution T A intron_variant MELA-AU 2 61577683 61577683 single base substitution T A upstream_gene_variant MELA-AU 2 61577762 61577762 single base substitution G A 3_prime_UTR_variant MELA-AU 2 61577762 61577762 single base substitution G A missense_variant P440S 1318C>T MELA-AU 2 61577762 61577762 single base substitution G A upstream_gene_variant MELA-AU 2 61577766 61577766 single base substitution G A 3_prime_UTR_variant MELA-AU 2 61577766 61577766 single base substitution G A synonymous_variant P438P 1314C>T MELA-AU 2 61577766 61577766 single base substitution G A upstream_gene_variant MELA-AU 2 61579128 61579128 single base substitution T A intron_variant MELA-AU 2 61579128 61579128 single base substitution T A upstream_gene_variant MELA-AU 2 61579206 61579206 single base substitution T A intron_variant MELA-AU 2 61579206 61579206 single base substitution T A upstream_gene_variant MELA-AU 2 61579329 61579329 single base substitution G A intron_variant MELA-AU 2 61579329 61579329 single base substitution G A upstream_gene_variant MELA-AU 2 61579947 61579947 single base substitution G A intron_variant MELA-AU 2 61579947 61579947 single base substitution G A upstream_gene_variant MELA-AU 2 61580016 61580016 single base substitution G A intron_variant MELA-AU 2 61580016 61580016 single base substitution G A upstream_gene_variant MELA-AU 2 61580246 61580246 single base substitution A G intron_variant MELA-AU 2 61580254 61580254 single base substitution G A intron_variant MELA-AU 2 61580327 61580327 single base substitution G A intron_variant MELA-AU 2 61580625 61580625 single base substitution C T intron_variant MELA-AU 2 61580898 61580898 single base substitution G A intron_variant MELA-AU 2 61581289 61581289 single base substitution A T intron_variant MELA-AU 2 61581445 61581445 single base substitution C T intron_variant MELA-AU 2 61581477 61581477 single base substitution G A intron_variant MELA-AU 2 61581915 61581915 single base substitution G A intron_variant MELA-AU 2 61582490 61582490 single base substitution T A intron_variant MELA-AU 2 61582607 61582608 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61582608 61582608 single base substitution G A intron_variant MELA-AU 2 61583385 61583386 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61584098 61584098 single base substitution T C intron_variant MELA-AU 2 61584099 61584099 single base substitution G A intron_variant MELA-AU 2 61584254 61584254 single base substitution C T intron_variant MELA-AU 2 61584419 61584419 single base substitution G A intron_variant MELA-AU 2 61584697 61584697 single base substitution G A intron_variant MELA-AU 2 61584949 61584949 single base substitution G A intron_variant MELA-AU 2 61585333 61585333 single base substitution A G intron_variant MELA-AU 2 61586343 61586343 single base substitution A C intron_variant MELA-AU 2 61586533 61586534 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 2 61587934 61587934 single base substitution G A intron_variant MELA-AU 2 61588161 61588161 single base substitution G A intron_variant MELA-AU 2 61589781 61589791 deletion of <=200bp AAGTTGACATC - intron_variant MELA-AU 2 61589903 61589903 single base substitution G A intron_variant MELA-AU 2 61590025 61590025 single base substitution C T intron_variant MELA-AU 2 61590336 61590336 single base substitution G A intron_variant MELA-AU 2 61590523 61590523 single base substitution G A intron_variant MELA-AU 2 61591148 61591148 single base substitution G A intron_variant MELA-AU 2 61591149 61591149 single base substitution G A intron_variant MELA-AU 2 61591240 61591240 single base substitution G A intron_variant MELA-AU 2 61592887 61592887 single base substitution A G intron_variant MELA-AU 2 61592937 61592937 single base substitution A T intron_variant MELA-AU 2 61593166 61593167 multiple base substitution (>=2bp and <=200bp) AA TC intron_variant MELA-AU 2 61593289 61593289 single base substitution G A intron_variant MELA-AU 2 61593462 61593462 single base substitution C T intron_variant MELA-AU 2 61593792 61593792 single base substitution G A intron_variant MELA-AU 2 61594040 61594040 single base substitution C T intron_variant MELA-AU 2 61595036 61595036 single base substitution G A intron_variant MELA-AU 2 61595263 61595263 single base substitution A T intron_variant MELA-AU 2 61595722 61595722 single base substitution G A intron_variant MELA-AU 2 61597889 61597889 single base substitution T A intron_variant MELA-AU 2 61598346 61598346 single base substitution G A intron_variant MELA-AU 2 61599725 61599725 single base substitution G A intron_variant MELA-AU 2 61600682 61600682 single base substitution G A intron_variant MELA-AU 2 61600709 61600710 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61601483 61601483 single base substitution G A intron_variant MELA-AU 2 61601894 61601894 single base substitution G A intron_variant MELA-AU 2 61601974 61601974 single base substitution G A intron_variant MELA-AU 2 61603131 61603131 single base substitution G A intron_variant MELA-AU 2 61603255 61603255 single base substitution G A intron_variant MELA-AU 2 61604223 61604223 single base substitution T C intron_variant MELA-AU 2 61604438 61604438 single base substitution C T intron_variant MELA-AU 2 61604668 61604668 single base substitution G A intron_variant MELA-AU 2 61604670 61604670 single base substitution A T intron_variant MELA-AU 2 61604695 61604695 single base substitution G A intron_variant MELA-AU 2 61605241 61605241 insertion of <=200bp - G intron_variant MELA-AU 2 61605269 61605269 single base substitution C A intron_variant MELA-AU 2 61605396 61605396 single base substitution G A intron_variant MELA-AU 2 61605948 61605948 single base substitution G A intron_variant MELA-AU 2 61606771 61606771 single base substitution C T intron_variant MELA-AU 2 61606935 61606935 single base substitution C T intron_variant MELA-AU 2 61607892 61607892 single base substitution A C intron_variant MELA-AU 2 61608333 61608333 single base substitution A G intron_variant MELA-AU 2 61608350 61608350 single base substitution A T intron_variant MELA-AU 2 61608910 61608910 single base substitution C T intron_variant MELA-AU 2 61609055 61609055 single base substitution G A intron_variant MELA-AU 2 61609061 61609061 single base substitution C T intron_variant MELA-AU 2 61609086 61609086 single base substitution G A intron_variant MELA-AU 2 61609347 61609347 single base substitution G A intron_variant MELA-AU 2 61609508 61609508 single base substitution G C intron_variant MELA-AU 2 61610151 61610151 single base substitution G A intron_variant MELA-AU 2 61610837 61610837 single base substitution G A intron_variant MELA-AU 2 61614275 61614275 single base substitution A G intron_variant MELA-AU 2 61614385 61614385 single base substitution T G intron_variant MELA-AU 2 61614830 61614830 single base substitution A G intron_variant MELA-AU 2 61615095 61615095 single base substitution T C intron_variant MELA-AU 2 61615160 61615160 single base substitution G A intron_variant MELA-AU 2 61615531 61615531 single base substitution G A intron_variant MELA-AU 2 61615568 61615568 single base substitution G A intron_variant MELA-AU 2 61615615 61615615 single base substitution G A intron_variant MELA-AU 2 61616991 61616991 single base substitution G A intron_variant MELA-AU 2 61618395 61618395 single base substitution A G intron_variant MELA-AU 2 61619260 61619260 single base substitution G C intron_variant MELA-AU 2 61620101 61620101 single base substitution G A intron_variant MELA-AU 2 61620894 61620894 single base substitution T C intron_variant MELA-AU 2 61621650 61621650 single base substitution G A intron_variant MELA-AU 2 61621800 61621800 single base substitution T C intron_variant MELA-AU 2 61623850 61623850 single base substitution C T intron_variant MELA-AU 2 61624297 61624297 single base substitution G A intron_variant MELA-AU 2 61625193 61625193 single base substitution G A intron_variant MELA-AU 2 61625578 61625578 single base substitution G A intron_variant MELA-AU 2 61625597 61625597 single base substitution G A intron_variant MELA-AU 2 61625837 61625838 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 61627115 61627115 single base substitution T G intron_variant MELA-AU 2 61627548 61627548 single base substitution G A intron_variant MELA-AU 2 61628101 61628101 single base substitution A G intron_variant MELA-AU 2 61628205 61628205 single base substitution G A intron_variant MELA-AU 2 61629539 61629539 single base substitution G A intron_variant MELA-AU 2 61630159 61630159 single base substitution G A intron_variant MELA-AU 2 61631114 61631114 single base substitution C T intron_variant MELA-AU 2 61631117 61631117 single base substitution G T intron_variant MELA-AU 2 61631245 61631246 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 2 61632754 61632754 single base substitution G A intron_variant MELA-AU 2 61632886 61632887 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61632886 61632887 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P170F 508CC>TT MELA-AU 2 61632924 61632924 single base substitution G A intron_variant MELA-AU 2 61632924 61632924 single base substitution G A synonymous_variant L157L 471C>T MELA-AU 2 61633654 61633654 single base substitution G A intron_variant MELA-AU 2 61634232 61634232 single base substitution G A intron_variant MELA-AU 2 61635042 61635042 single base substitution G A intron_variant MELA-AU 2 61635887 61635887 single base substitution G A intron_variant MELA-AU 2 61636280 61636280 single base substitution G A intron_variant MELA-AU 2 61636372 61636372 single base substitution G A intron_variant MELA-AU 2 61637527 61637528 multiple base substitution (>=2bp and <=200bp) TG AA intron_variant MELA-AU 2 61637530 61637530 single base substitution A T intron_variant MELA-AU 2 61638706 61638706 single base substitution C T intron_variant MELA-AU 2 61638841 61638841 single base substitution T C intron_variant MELA-AU 2 61639312 61639312 single base substitution G A intron_variant MELA-AU 2 61639421 61639421 single base substitution G A intron_variant MELA-AU 2 61640198 61640198 single base substitution G A intron_variant MELA-AU 2 61640885 61640885 single base substitution G A intron_variant MELA-AU 2 61641676 61641676 single base substitution C G intron_variant MELA-AU 2 61641845 61641845 single base substitution G T intron_variant MELA-AU 2 61641936 61641936 single base substitution G A intron_variant MELA-AU 2 61643022 61643022 single base substitution A G intron_variant MELA-AU 2 61643285 61643285 single base substitution C T intron_variant MELA-AU 2 61645256 61645256 single base substitution C T intron_variant MELA-AU 2 61645484 61645484 single base substitution G A intron_variant MELA-AU 2 61645689 61645689 single base substitution G A intron_variant MELA-AU 2 61647717 61647717 single base substitution C A intron_variant MELA-AU 2 61647804 61647804 single base substitution G A intron_variant MELA-AU 2 61648268 61648268 single base substitution C T intron_variant MELA-AU 2 61648932 61648932 single base substitution A G intron_variant MELA-AU 2 61649118 61649118 single base substitution G A intron_variant MELA-AU 2 61650297 61650297 single base substitution G A intron_variant MELA-AU 2 61650569 61650569 single base substitution G A intron_variant MELA-AU 2 61651975 61651975 single base substitution T A intron_variant MELA-AU 2 61653022 61653022 single base substitution G A intron_variant MELA-AU 2 61653294 61653294 single base substitution A C intron_variant MELA-AU 2 61653350 61653350 single base substitution G A intron_variant MELA-AU 2 61653472 61653472 single base substitution G A intron_variant MELA-AU 2 61654023 61654023 single base substitution G A intron_variant MELA-AU 2 61654993 61654993 single base substitution G A intron_variant MELA-AU 2 61656787 61656787 single base substitution G C intron_variant MELA-AU 2 61656981 61656981 single base substitution G A intron_variant MELA-AU 2 61657846 61657846 single base substitution A G intron_variant MELA-AU 2 61658340 61658341 multiple base substitution (>=2bp and <=200bp) TG CT intron_variant MELA-AU 2 61658818 61658818 single base substitution C T intron_variant MELA-AU 2 61659597 61659597 single base substitution G A intron_variant MELA-AU 2 61660778 61660778 single base substitution A T intron_variant MELA-AU 2 61661094 61661094 single base substitution G A intron_variant MELA-AU 2 61661135 61661135 single base substitution G A intron_variant MELA-AU 2 61661156 61661156 single base substitution C T intron_variant MELA-AU 2 61661159 61661159 single base substitution G A intron_variant MELA-AU 2 61662059 61662059 single base substitution G A intron_variant MELA-AU 2 61662118 61662118 single base substitution G A intron_variant MELA-AU 2 61662558 61662558 single base substitution G A intron_variant MELA-AU 2 61662641 61662641 single base substitution C T intron_variant MELA-AU 2 61662686 61662686 single base substitution T G intron_variant MELA-AU 2 61662736 61662736 single base substitution C T intron_variant MELA-AU 2 61663095 61663096 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61663536 61663536 single base substitution G A intron_variant MELA-AU 2 61663714 61663714 single base substitution G A intron_variant MELA-AU 2 61663920 61663921 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 2 61664048 61664048 single base substitution G A intron_variant MELA-AU 2 61664895 61664895 single base substitution G A intron_variant MELA-AU 2 61664910 61664910 insertion of <=200bp - AAAT intron_variant MELA-AU 2 61665000 61665000 single base substitution A T intron_variant MELA-AU 2 61665092 61665092 single base substitution A T intron_variant MELA-AU 2 61665516 61665516 single base substitution G A intron_variant MELA-AU 2 61666101 61666101 single base substitution A C intron_variant MELA-AU 2 61666771 61666771 single base substitution G A intron_variant MELA-AU 2 61667118 61667118 single base substitution G A intron_variant MELA-AU 2 61667379 61667379 single base substitution A C intron_variant MELA-AU 2 61667788 61667788 single base substitution G A intron_variant MELA-AU 2 61668547 61668547 single base substitution G A intron_variant MELA-AU 2 61668613 61668613 single base substitution G A intron_variant MELA-AU 2 61668967 61668967 single base substitution A T intron_variant MELA-AU 2 61669310 61669310 single base substitution G T intron_variant MELA-AU 2 61669768 61669768 single base substitution A G intron_variant MELA-AU 2 61669945 61669945 single base substitution G A intron_variant MELA-AU 2 61670101 61670101 single base substitution G A intron_variant MELA-AU 2 61671645 61671645 single base substitution A C intron_variant MELA-AU 2 61673785 61673785 single base substitution G C intron_variant MELA-AU 2 61675848 61675849 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61676311 61676311 single base substitution G A intron_variant MELA-AU 2 61676875 61676875 single base substitution A G intron_variant MELA-AU 2 61676961 61676962 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61676985 61676985 single base substitution G A intron_variant MELA-AU 2 61677596 61677596 single base substitution C G intron_variant MELA-AU 2 61677912 61677912 single base substitution G A intron_variant MELA-AU 2 61678083 61678083 single base substitution G A intron_variant MELA-AU 2 61678403 61678403 single base substitution C T intron_variant MELA-AU 2 61679053 61679053 single base substitution G A intron_variant MELA-AU 2 61679101 61679101 single base substitution G A intron_variant MELA-AU 2 61679689 61679689 single base substitution G A intron_variant MELA-AU 2 61680321 61680321 single base substitution G A intron_variant MELA-AU 2 61680666 61680666 single base substitution G A intron_variant MELA-AU 2 61681605 61681605 single base substitution G A intron_variant MELA-AU 2 61683340 61683340 single base substitution C T intron_variant MELA-AU 2 61683580 61683580 single base substitution G A intron_variant MELA-AU 2 61684457 61684457 single base substitution C T intron_variant MELA-AU 2 61684629 61684629 single base substitution G A intron_variant MELA-AU 2 61684656 61684656 single base substitution G A intron_variant MELA-AU 2 61684837 61684837 single base substitution A G intron_variant MELA-AU 2 61685155 61685155 single base substitution G A intron_variant MELA-AU 2 61685251 61685251 single base substitution G T intron_variant MELA-AU 2 61685480 61685480 single base substitution G A intron_variant MELA-AU 2 61685603 61685603 single base substitution G A intron_variant MELA-AU 2 61685998 61685998 single base substitution C T intron_variant MELA-AU 2 61686190 61686190 single base substitution G A intron_variant MELA-AU 2 61688103 61688103 single base substitution G A intron_variant MELA-AU 2 61688248 61688248 single base substitution G A intron_variant MELA-AU 2 61688377 61688377 single base substitution A C intron_variant MELA-AU 2 61689086 61689086 single base substitution T C intron_variant MELA-AU 2 61689772 61689772 single base substitution G A intron_variant MELA-AU 2 61689817 61689817 single base substitution G A intron_variant MELA-AU 2 61689984 61689984 single base substitution G A intron_variant MELA-AU 2 61690597 61690598 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61690744 61690744 single base substitution G A intron_variant MELA-AU 2 61692205 61692205 single base substitution A C intron_variant MELA-AU 2 61692401 61692401 single base substitution C T intron_variant MELA-AU 2 61692536 61692536 single base substitution G A intron_variant MELA-AU 2 61692734 61692734 single base substitution T C intron_variant MELA-AU 2 61693005 61693005 single base substitution G A intron_variant MELA-AU 2 61693122 61693122 single base substitution A G intron_variant MELA-AU 2 61693493 61693493 single base substitution G A intron_variant MELA-AU 2 61693536 61693536 single base substitution G A intron_variant MELA-AU 2 61693723 61693723 single base substitution A G intron_variant MELA-AU 2 61693916 61693916 single base substitution G C intron_variant MELA-AU 2 61693976 61693976 single base substitution G A intron_variant MELA-AU 2 61694739 61694740 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 61695622 61695622 single base substitution A G intron_variant MELA-AU 2 61695921 61695921 single base substitution A T intron_variant MELA-AU 2 61698239 61698239 single base substitution C T upstream_gene_variant MELA-AU 2 61698476 61698476 single base substitution G A upstream_gene_variant MELA-AU 2 61698511 61698511 single base substitution C T upstream_gene_variant MELA-AU 2 61699139 61699139 single base substitution C T upstream_gene_variant MELA-AU 2 61699493 61699493 single base substitution C T upstream_gene_variant MELA-AU 2 61699822 61699822 single base substitution C T upstream_gene_variant MELA-AU 2 61700653 61700653 single base substitution G A upstream_gene_variant MELA-AU 2 61701302 61701302 single base substitution C T upstream_gene_variant MELA-AU 2 61701840 61701840 single base substitution G A upstream_gene_variant MELA-AU 2 61702213 61702213 single base substitution C T upstream_gene_variant ORCA-IN 2 61413320 61413320 single base substitution C G downstream_gene_variant ORCA-IN 2 61415389 61415389 single base substitution C T downstream_gene_variant ORCA-IN 2 61415389 61415389 single base substitution C T missense_variant E1173K 3517G>A ORCA-IN 2 61415389 61415389 single base substitution C T missense_variant E3497K 10489G>A ORCA-IN 2 61415389 61415389 single base substitution C T missense_variant E375K 1123G>A ORCA-IN 2 61486345 61486345 single base substitution G A intron_variant ORCA-IN 2 61486345 61486345 single base substitution G A upstream_gene_variant ORCA-IN 2 61494837 61494837 single base substitution C G intron_variant ORCA-IN 2 61494837 61494837 single base substitution C G upstream_gene_variant ORCA-IN 2 61499638 61499638 single base substitution C T intron_variant ORCA-IN 2 61507480 61507480 single base substitution C G exon_variant ORCA-IN 2 61507480 61507480 single base substitution C G intron_variant ORCA-IN 2 61507480 61507480 single base substitution C G missense_variant D1719H 5155G>C ORCA-IN 2 61507480 61507480 single base substitution C G upstream_gene_variant ORCA-IN 2 61515968 61515968 single base substitution C A intron_variant ORCA-IN 2 61515968 61515968 single base substitution C A missense_variant Q1531H 4593G>T ORCA-IN 2 61521424 61521424 single base substitution C T intron_variant ORCA-IN 2 61580027 61580027 single base substitution C T intron_variant ORCA-IN 2 61580027 61580027 single base substitution C T upstream_gene_variant ORCA-IN 2 61585359 61585359 single base substitution G A intron_variant ORCA-IN 2 61586860 61586860 single base substitution G A intron_variant ORCA-IN 2 61590981 61590981 single base substitution C G intron_variant ORCA-IN 2 61593446 61593446 single base substitution G A intron_variant ORCA-IN 2 61613681 61613681 single base substitution T C intron_variant ORCA-IN 2 61615090 61615097 deletion of <=200bp ACACATAT - intron_variant ORCA-IN 2 61646080 61646080 single base substitution C G intron_variant ORCA-IN 2 61668937 61668937 deletion of <=200bp C - intron_variant ORCA-IN 2 61670063 61670063 single base substitution C G intron_variant OV-AU 2 61411256 61411256 single base substitution C T downstream_gene_variant OV-AU 2 61414179 61414179 single base substitution C G downstream_gene_variant OV-AU 2 61417276 61417276 single base substitution T C downstream_gene_variant OV-AU 2 61417276 61417276 single base substitution T C exon_variant OV-AU 2 61417276 61417276 single base substitution T C intron_variant OV-AU 2 61417276 61417276 single base substitution T C upstream_gene_variant OV-AU 2 61419461 61419461 single base substitution C T intron_variant OV-AU 2 61419461 61419461 single base substitution C T upstream_gene_variant OV-AU 2 61419788 61419788 single base substitution G A intron_variant OV-AU 2 61419788 61419788 single base substitution G A upstream_gene_variant OV-AU 2 61438660 61438660 single base substitution A G downstream_gene_variant OV-AU 2 61438660 61438660 single base substitution A G intron_variant OV-AU 2 61450350 61450350 single base substitution G A downstream_gene_variant OV-AU 2 61450350 61450350 single base substitution G A exon_variant OV-AU 2 61450350 61450350 single base substitution G A intron_variant OV-AU 2 61450350 61450350 single base substitution G A upstream_gene_variant OV-AU 2 61457958 61457958 single base substitution C T intron_variant OV-AU 2 61464774 61464774 single base substitution C T intron_variant OV-AU 2 61467102 61467102 single base substitution C A intron_variant OV-AU 2 61472790 61472790 single base substitution T G intron_variant OV-AU 2 61472790 61472790 single base substitution T G upstream_gene_variant OV-AU 2 61475820 61475820 single base substitution T C intron_variant OV-AU 2 61475820 61475820 single base substitution T C splice_acceptor_variant OV-AU 2 61476868 61476868 single base substitution G A intron_variant OV-AU 2 61483121 61483121 single base substitution C G intron_variant OV-AU 2 61483331 61483331 single base substitution A G intron_variant OV-AU 2 61485048 61485048 single base substitution C G intron_variant OV-AU 2 61485048 61485048 single base substitution C G upstream_gene_variant OV-AU 2 61485553 61485553 single base substitution A C intron_variant OV-AU 2 61485553 61485553 single base substitution A C upstream_gene_variant OV-AU 2 61493948 61493948 single base substitution A T intron_variant OV-AU 2 61493948 61493948 single base substitution A T upstream_gene_variant OV-AU 2 61500445 61500445 single base substitution C G downstream_gene_variant OV-AU 2 61500445 61500445 single base substitution C G intron_variant OV-AU 2 61508587 61508587 single base substitution A C intron_variant OV-AU 2 61508587 61508587 single base substitution A C upstream_gene_variant OV-AU 2 61510839 61510839 single base substitution C T intron_variant OV-AU 2 61510839 61510839 single base substitution C T upstream_gene_variant OV-AU 2 61511080 61511080 single base substitution T G intron_variant OV-AU 2 61511080 61511080 single base substitution T G upstream_gene_variant OV-AU 2 61513708 61513708 single base substitution T G intron_variant OV-AU 2 61514686 61514686 single base substitution C A intron_variant OV-AU 2 61514712 61514712 single base substitution T C intron_variant OV-AU 2 61516813 61516813 single base substitution A C intron_variant OV-AU 2 61517087 61517087 single base substitution A C intron_variant OV-AU 2 61521809 61521809 single base substitution G A intron_variant OV-AU 2 61532480 61532480 single base substitution C T intron_variant OV-AU 2 61532480 61532480 single base substitution C T upstream_gene_variant OV-AU 2 61534370 61534370 single base substitution T C intron_variant OV-AU 2 61537602 61537602 single base substitution A G intron_variant OV-AU 2 61538435 61538435 single base substitution C A intron_variant OV-AU 2 61542709 61542709 single base substitution C T intron_variant OV-AU 2 61550920 61550920 single base substitution C T intron_variant OV-AU 2 61565958 61565958 single base substitution G A downstream_gene_variant OV-AU 2 61565958 61565958 single base substitution G A intron_variant OV-AU 2 61565959 61565959 single base substitution A T downstream_gene_variant OV-AU 2 61565959 61565959 single base substitution A T intron_variant OV-AU 2 61570806 61570806 single base substitution A G downstream_gene_variant OV-AU 2 61570806 61570806 single base substitution A G intron_variant OV-AU 2 61570807 61570807 single base substitution A G downstream_gene_variant OV-AU 2 61570807 61570807 single base substitution A G intron_variant OV-AU 2 61573293 61573293 single base substitution A G downstream_gene_variant OV-AU 2 61573293 61573293 single base substitution A G intron_variant OV-AU 2 61579278 61579278 single base substitution G C intron_variant OV-AU 2 61579278 61579278 single base substitution G C upstream_gene_variant OV-AU 2 61584892 61584892 single base substitution G C intron_variant OV-AU 2 61585385 61585385 single base substitution A G intron_variant OV-AU 2 61588133 61588133 single base substitution C G intron_variant OV-AU 2 61591925 61591925 single base substitution T C intron_variant OV-AU 2 61592257 61592257 single base substitution C T intron_variant OV-AU 2 61594236 61594236 single base substitution A G intron_variant OV-AU 2 61596020 61596020 single base substitution A G intron_variant OV-AU 2 61596184 61596184 single base substitution G T intron_variant OV-AU 2 61606550 61606550 single base substitution G T intron_variant OV-AU 2 61608712 61608712 single base substitution C A intron_variant OV-AU 2 61610779 61610779 single base substitution C T intron_variant OV-AU 2 61613723 61613723 single base substitution A C intron_variant OV-AU 2 61618957 61618957 single base substitution G C intron_variant OV-AU 2 61619836 61619836 single base substitution A G intron_variant OV-AU 2 61620702 61620702 single base substitution G A intron_variant OV-AU 2 61625082 61625082 single base substitution A T intron_variant OV-AU 2 61634328 61634328 single base substitution C T intron_variant OV-AU 2 61635121 61635121 single base substitution G A intron_variant OV-AU 2 61635730 61635730 single base substitution G T intron_variant OV-AU 2 61636247 61636247 single base substitution C G intron_variant OV-AU 2 61637405 61637405 single base substitution G A intron_variant OV-AU 2 61644089 61644089 single base substitution G A intron_variant OV-AU 2 61648772 61648772 single base substitution T A intron_variant OV-AU 2 61653661 61653661 single base substitution G C intron_variant OV-AU 2 61660087 61660087 single base substitution C T intron_variant OV-AU 2 61665368 61665368 single base substitution T C intron_variant OV-AU 2 61673041 61673041 single base substitution C T intron_variant OV-AU 2 61674592 61674592 single base substitution G T intron_variant OV-AU 2 61675930 61675930 single base substitution T C intron_variant OV-AU 2 61677645 61677645 single base substitution T C intron_variant OV-AU 2 61695443 61695443 single base substitution C A intron_variant OV-US 2 61475758 61475758 single base substitution A G exon_variant OV-US 2 61475758 61475758 single base substitution A G intron_variant OV-US 2 61475758 61475758 single base substitution A G synonymous_variant N2094N 6282T>C OV-US 2 61475758 61475758 single base substitution A G synonymous_variant N372N 1116T>C OV-US 2 61522381 61522381 single base substitution G A intron_variant OV-US 2 61522381 61522381 single base substitution G A synonymous_variant S1433S 4299C>T PACA-AU 2 61410937 61410937 single base substitution G A downstream_gene_variant PACA-AU 2 61417324 61417324 single base substitution G A downstream_gene_variant PACA-AU 2 61417324 61417324 single base substitution G A exon_variant PACA-AU 2 61417324 61417324 single base substitution G A intron_variant PACA-AU 2 61417324 61417324 single base substitution G A upstream_gene_variant PACA-AU 2 61420212 61420212 single base substitution A C exon_variant PACA-AU 2 61420212 61420212 single base substitution A C intron_variant PACA-AU 2 61420212 61420212 single base substitution A C upstream_gene_variant PACA-AU 2 61425384 61425384 single base substitution G T intron_variant PACA-AU 2 61425384 61425384 single base substitution G T upstream_gene_variant PACA-AU 2 61430352 61430352 single base substitution G A downstream_gene_variant PACA-AU 2 61430352 61430352 single base substitution G A exon_variant PACA-AU 2 61430352 61430352 single base substitution G A intron_variant PACA-AU 2 61430352 61430352 single base substitution G A missense_variant S3144F 9431C>T PACA-AU 2 61433127 61433127 single base substitution C T downstream_gene_variant PACA-AU 2 61433127 61433127 single base substitution C T intron_variant PACA-AU 2 61433127 61433127 single base substitution C T upstream_gene_variant PACA-AU 2 61435045 61435045 single base substitution A T downstream_gene_variant PACA-AU 2 61435045 61435045 single base substitution A T exon_variant PACA-AU 2 61435045 61435045 single base substitution A T intron_variant PACA-AU 2 61435045 61435045 single base substitution A T upstream_gene_variant PACA-AU 2 61440501 61440501 single base substitution T C downstream_gene_variant PACA-AU 2 61440501 61440501 single base substitution T C intron_variant PACA-AU 2 61448078 61448078 single base substitution C A downstream_gene_variant PACA-AU 2 61448078 61448078 single base substitution C A intron_variant PACA-AU 2 61448078 61448078 single base substitution C A upstream_gene_variant PACA-AU 2 61449961 61449961 single base substitution G C downstream_gene_variant PACA-AU 2 61449961 61449961 single base substitution G C exon_variant PACA-AU 2 61449961 61449961 single base substitution G C intron_variant PACA-AU 2 61449961 61449961 single base substitution G C upstream_gene_variant PACA-AU 2 61454643 61454643 single base substitution C A intron_variant PACA-AU 2 61454643 61454643 single base substitution C A upstream_gene_variant PACA-AU 2 61455036 61455038 deletion of <=200bp AAG - intron_variant PACA-AU 2 61455036 61455038 deletion of <=200bp AAG - upstream_gene_variant PACA-AU 2 61455613 61455613 single base substitution C G intron_variant PACA-AU 2 61455613 61455613 single base substitution C G upstream_gene_variant PACA-AU 2 61464320 61464320 single base substitution G A intron_variant PACA-AU 2 61470067 61470067 single base substitution C T intron_variant PACA-AU 2 61470067 61470067 single base substitution C T upstream_gene_variant PACA-AU 2 61476705 61476705 single base substitution T A intron_variant PACA-AU 2 61477396 61477396 single base substitution G T intron_variant PACA-AU 2 61478777 61478777 single base substitution T G intron_variant PACA-AU 2 61483551 61483551 single base substitution A T exon_variant PACA-AU 2 61483551 61483551 single base substitution A T intron_variant PACA-AU 2 61483551 61483551 single base substitution A T synonymous_variant S2063S 6189T>A PACA-AU 2 61483551 61483551 single base substitution A T synonymous_variant S341S 1023T>A PACA-AU 2 61484530 61484530 single base substitution G A intron_variant PACA-AU 2 61484530 61484530 single base substitution G A upstream_gene_variant PACA-AU 2 61486120 61486120 single base substitution C A intron_variant PACA-AU 2 61486120 61486120 single base substitution C A upstream_gene_variant PACA-AU 2 61490947 61490947 single base substitution T C downstream_gene_variant PACA-AU 2 61490947 61490947 single base substitution T C intron_variant PACA-AU 2 61495500 61495500 single base substitution C A intron_variant PACA-AU 2 61495500 61495500 single base substitution C A upstream_gene_variant PACA-AU 2 61498589 61498589 single base substitution G C intron_variant PACA-AU 2 61499553 61499553 single base substitution A G intron_variant PACA-AU 2 61499554 61499554 single base substitution A G intron_variant PACA-AU 2 61501557 61501557 insertion of <=200bp - A downstream_gene_variant PACA-AU 2 61501557 61501557 insertion of <=200bp - A intron_variant PACA-AU 2 61507921 61507921 single base substitution T C intron_variant PACA-AU 2 61507921 61507921 single base substitution T C upstream_gene_variant PACA-AU 2 61509272 61509272 single base substitution C A intron_variant PACA-AU 2 61509272 61509272 single base substitution C A upstream_gene_variant PACA-AU 2 61514502 61514502 single base substitution G T intron_variant PACA-AU 2 61517670 61517670 single base substitution G A intron_variant PACA-AU 2 61528225 61528227 deletion of <=200bp CAA - disruptive_inframe_deletion SC1329S PACA-AU 2 61528225 61528227 deletion of <=200bp CAA - upstream_gene_variant PACA-AU 2 61538377 61538377 single base substitution T G intron_variant PACA-AU 2 61547692 61547692 single base substitution A C intron_variant PACA-AU 2 61552955 61552955 single base substitution C A intron_variant PACA-AU 2 61554302 61554302 single base substitution G A intron_variant PACA-AU 2 61560168 61560168 single base substitution C T intron_variant PACA-AU 2 61561811 61561811 single base substitution T A downstream_gene_variant PACA-AU 2 61561811 61561811 single base substitution T A intron_variant PACA-AU 2 61566817 61566817 single base substitution C A splice_acceptor_variant PACA-AU 2 61577152 61577152 single base substitution A T intron_variant PACA-AU 2 61577152 61577152 single base substitution A T upstream_gene_variant PACA-AU 2 61585104 61585104 single base substitution T C intron_variant PACA-AU 2 61594456 61594456 insertion of <=200bp - CG intron_variant PACA-AU 2 61595626 61595626 single base substitution T A intron_variant PACA-AU 2 61600203 61600203 single base substitution G A intron_variant PACA-AU 2 61601890 61601890 single base substitution G C intron_variant PACA-AU 2 61605947 61605947 single base substitution C T intron_variant PACA-AU 2 61607387 61607387 single base substitution C G 3_prime_UTR_variant PACA-AU 2 61607387 61607387 single base substitution C G missense_variant D311H 931G>C PACA-AU 2 61610228 61610228 single base substitution A C intron_variant PACA-AU 2 61612578 61612578 single base substitution G A intron_variant PACA-AU 2 61615091 61615091 single base substitution C T intron_variant PACA-AU 2 61616864 61616888 deletion of <=200bp TCCTTTATCATTTTTTTTTAAGTTT - intron_variant PACA-AU 2 61616953 61616953 single base substitution C T intron_variant PACA-AU 2 61617797 61617797 single base substitution G T intron_variant PACA-AU 2 61624722 61624722 single base substitution G A intron_variant PACA-AU 2 61624989 61624989 single base substitution G A intron_variant PACA-AU 2 61628534 61628534 single base substitution A G intron_variant PACA-AU 2 61630624 61630624 single base substitution T A intron_variant PACA-AU 2 61633800 61633800 single base substitution C T intron_variant PACA-AU 2 61643056 61643056 single base substitution C T intron_variant PACA-AU 2 61650577 61650577 single base substitution A T intron_variant PACA-AU 2 61651085 61651085 single base substitution T G intron_variant PACA-AU 2 61651770 61651770 single base substitution C T intron_variant PACA-AU 2 61652047 61652047 single base substitution C T intron_variant PACA-AU 2 61653048 61653048 single base substitution C G intron_variant PACA-AU 2 61653781 61653781 single base substitution A T intron_variant PACA-AU 2 61654236 61654236 single base substitution T C intron_variant PACA-AU 2 61654691 61654691 single base substitution T C intron_variant PACA-AU 2 61664910 61664913 deletion of <=200bp AAAT - intron_variant PACA-AU 2 61664939 61664939 single base substitution A G intron_variant PACA-AU 2 61670069 61670069 single base substitution C G intron_variant PACA-AU 2 61676649 61676649 single base substitution A C intron_variant PACA-AU 2 61676770 61676770 single base substitution C T intron_variant PACA-AU 2 61678824 61678824 single base substitution A C intron_variant PACA-AU 2 61683512 61683512 single base substitution T C intron_variant PACA-AU 2 61683513 61683513 single base substitution A T intron_variant PACA-AU 2 61686053 61686053 single base substitution G C intron_variant PACA-AU 2 61695357 61695357 single base substitution G C intron_variant PACA-AU 2 61700286 61700286 single base substitution G A upstream_gene_variant PACA-CA 2 61410749 61410749 single base substitution G A downstream_gene_variant PACA-CA 2 61416822 61416822 single base substitution T A downstream_gene_variant PACA-CA 2 61416822 61416822 single base substitution T A exon_variant PACA-CA 2 61416822 61416822 single base substitution T A intron_variant PACA-CA 2 61418526 61418527 deletion of <=200bp TA - intron_variant PACA-CA 2 61418526 61418527 deletion of <=200bp TA - upstream_gene_variant PACA-CA 2 61423043 61423043 single base substitution T A intron_variant PACA-CA 2 61423043 61423043 single base substitution T A upstream_gene_variant PACA-CA 2 61428438 61428438 single base substitution C A downstream_gene_variant PACA-CA 2 61428438 61428438 single base substitution C A intron_variant PACA-CA 2 61430040 61430040 single base substitution C A downstream_gene_variant PACA-CA 2 61430040 61430040 single base substitution C A intron_variant PACA-CA 2 61430930 61430930 single base substitution G A downstream_gene_variant PACA-CA 2 61430930 61430930 single base substitution G A intron_variant PACA-CA 2 61431273 61431273 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 61431273 61431273 deletion of <=200bp T - intron_variant PACA-CA 2 61432156 61432156 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 61432156 61432156 deletion of <=200bp T - intron_variant PACA-CA 2 61432156 61432156 deletion of <=200bp T - upstream_gene_variant PACA-CA 2 61432777 61432777 single base substitution G C downstream_gene_variant PACA-CA 2 61432777 61432777 single base substitution G C intron_variant PACA-CA 2 61432777 61432777 single base substitution G C upstream_gene_variant PACA-CA 2 61433942 61433942 single base substitution A C downstream_gene_variant PACA-CA 2 61433942 61433942 single base substitution A C exon_variant PACA-CA 2 61433942 61433942 single base substitution A C missense_variant I3000R 8999T>G PACA-CA 2 61433942 61433942 single base substitution A C missense_variant I759R 2276T>G PACA-CA 2 61433942 61433942 single base substitution A C upstream_gene_variant PACA-CA 2 61436298 61436298 deletion of <=200bp A - intron_variant PACA-CA 2 61436298 61436298 deletion of <=200bp A - upstream_gene_variant PACA-CA 2 61438180 61438180 single base substitution G A downstream_gene_variant PACA-CA 2 61438180 61438180 single base substitution G A intron_variant PACA-CA 2 61442040 61442040 single base substitution G A intron_variant PACA-CA 2 61442040 61442040 single base substitution G A upstream_gene_variant PACA-CA 2 61443124 61443124 single base substitution T G downstream_gene_variant PACA-CA 2 61443124 61443124 single base substitution T G intron_variant PACA-CA 2 61443124 61443124 single base substitution T G upstream_gene_variant PACA-CA 2 61445785 61445785 single base substitution G T downstream_gene_variant PACA-CA 2 61445785 61445785 single base substitution G T intron_variant PACA-CA 2 61445785 61445785 single base substitution G T upstream_gene_variant PACA-CA 2 61446204 61446204 single base substitution C G downstream_gene_variant PACA-CA 2 61446204 61446204 single base substitution C G intron_variant PACA-CA 2 61446204 61446204 single base substitution C G upstream_gene_variant PACA-CA 2 61446217 61446217 single base substitution C T downstream_gene_variant PACA-CA 2 61446217 61446217 single base substitution C T intron_variant PACA-CA 2 61446217 61446217 single base substitution C T upstream_gene_variant PACA-CA 2 61448132 61448132 single base substitution G A downstream_gene_variant PACA-CA 2 61448132 61448132 single base substitution G A intron_variant PACA-CA 2 61448132 61448132 single base substitution G A upstream_gene_variant PACA-CA 2 61449128 61449128 single base substitution T C downstream_gene_variant PACA-CA 2 61449128 61449128 single base substitution T C intron_variant PACA-CA 2 61449128 61449128 single base substitution T C upstream_gene_variant PACA-CA 2 61453600 61453600 single base substitution T A downstream_gene_variant PACA-CA 2 61453600 61453600 single base substitution T A intron_variant PACA-CA 2 61453600 61453600 single base substitution T A upstream_gene_variant PACA-CA 2 61454871 61454871 single base substitution C A intron_variant PACA-CA 2 61454871 61454871 single base substitution C A upstream_gene_variant PACA-CA 2 61454875 61454875 single base substitution A C intron_variant PACA-CA 2 61454875 61454875 single base substitution A C upstream_gene_variant PACA-CA 2 61455684 61455684 single base substitution G A intron_variant PACA-CA 2 61455684 61455684 single base substitution G A upstream_gene_variant PACA-CA 2 61458298 61458298 single base substitution C G intron_variant PACA-CA 2 61459636 61459636 single base substitution C T exon_variant PACA-CA 2 61459636 61459636 single base substitution C T intron_variant PACA-CA 2 61459636 61459636 single base substitution C T stop_gained W114* 341G>A PACA-CA 2 61459636 61459636 single base substitution C T stop_gained W2355* 7064G>A PACA-CA 2 61459636 61459636 single base substitution C T stop_gained W633* 1898G>A PACA-CA 2 61463016 61463016 single base substitution C T exon_variant PACA-CA 2 61463016 61463016 single base substitution C T intron_variant PACA-CA 2 61463016 61463016 single base substitution C T synonymous_variant L2332L 6996G>A PACA-CA 2 61463016 61463016 single base substitution C T synonymous_variant L610L 1830G>A PACA-CA 2 61463016 61463016 single base substitution C T synonymous_variant L91L 273G>A PACA-CA 2 61465164 61465164 single base substitution G A intron_variant PACA-CA 2 61465238 61465238 single base substitution C G intron_variant PACA-CA 2 61465933 61465933 single base substitution C T intron_variant PACA-CA 2 61470834 61470834 single base substitution C T intron_variant PACA-CA 2 61470834 61470834 single base substitution C T upstream_gene_variant PACA-CA 2 61471325 61471325 single base substitution C T intron_variant PACA-CA 2 61471325 61471325 single base substitution C T upstream_gene_variant PACA-CA 2 61472853 61472866 deletion of <=200bp AAAATAACTCAATG - intron_variant PACA-CA 2 61472853 61472866 deletion of <=200bp AAAATAACTCAATG - upstream_gene_variant PACA-CA 2 61478273 61478273 deletion of <=200bp A - intron_variant PACA-CA 2 61478639 61478639 single base substitution A T intron_variant PACA-CA 2 61480571 61480571 single base substitution C T intron_variant PACA-CA 2 61481801 61481801 single base substitution G C intron_variant PACA-CA 2 61482546 61482546 single base substitution C T intron_variant PACA-CA 2 61484122 61484122 single base substitution A G intron_variant PACA-CA 2 61484122 61484122 single base substitution A G upstream_gene_variant PACA-CA 2 61485008 61485008 deletion of <=200bp A - intron_variant PACA-CA 2 61485008 61485008 deletion of <=200bp A - upstream_gene_variant PACA-CA 2 61490264 61490264 single base substitution G A downstream_gene_variant PACA-CA 2 61490264 61490264 single base substitution G A intron_variant PACA-CA 2 61498194 61498194 single base substitution G A intron_variant PACA-CA 2 61503355 61503355 single base substitution A C downstream_gene_variant PACA-CA 2 61503355 61503355 single base substitution A C intron_variant PACA-CA 2 61506246 61506246 single base substitution A T intron_variant PACA-CA 2 61506743 61506743 single base substitution G T intron_variant PACA-CA 2 61507301 61507301 single base substitution T A intron_variant PACA-CA 2 61507980 61507980 single base substitution T C intron_variant PACA-CA 2 61507980 61507980 single base substitution T C upstream_gene_variant PACA-CA 2 61510434 61510434 single base substitution T C intron_variant PACA-CA 2 61510434 61510434 single base substitution T C upstream_gene_variant PACA-CA 2 61521899 61521899 single base substitution A G intron_variant PACA-CA 2 61522047 61522047 single base substitution T C intron_variant PACA-CA 2 61525491 61525491 deletion of <=200bp C - intron_variant PACA-CA 2 61525927 61525927 single base substitution T C intron_variant PACA-CA 2 61525928 61525928 single base substitution C A intron_variant PACA-CA 2 61527803 61527803 single base substitution C T intron_variant PACA-CA 2 61530347 61530347 single base substitution G A intron_variant PACA-CA 2 61530347 61530347 single base substitution G A upstream_gene_variant PACA-CA 2 61540213 61540213 deletion of <=200bp T - intron_variant PACA-CA 2 61540687 61540687 single base substitution A G intron_variant PACA-CA 2 61541060 61541060 single base substitution T G intron_variant PACA-CA 2 61541857 61541857 single base substitution C G missense_variant E1135D 3405G>C PACA-CA 2 61542884 61542884 single base substitution G A intron_variant PACA-CA 2 61544976 61544976 single base substitution C A intron_variant PACA-CA 2 61545476 61545476 single base substitution T C intron_variant PACA-CA 2 61546784 61546784 single base substitution A C intron_variant PACA-CA 2 61546988 61546988 deletion of <=200bp A - intron_variant PACA-CA 2 61549153 61549153 single base substitution C T intron_variant PACA-CA 2 61552175 61552175 single base substitution A G intron_variant PACA-CA 2 61558082 61558082 single base substitution C G intron_variant PACA-CA 2 61559747 61559747 single base substitution C T intron_variant PACA-CA 2 61559844 61559844 single base substitution A T intron_variant PACA-CA 2 61560064 61560064 single base substitution C T intron_variant PACA-CA 2 61562879 61562879 single base substitution C G downstream_gene_variant PACA-CA 2 61562879 61562879 single base substitution C G intron_variant PACA-CA 2 61562888 61562888 single base substitution A C downstream_gene_variant PACA-CA 2 61562888 61562888 single base substitution A C intron_variant PACA-CA 2 61563531 61563531 single base substitution A C downstream_gene_variant PACA-CA 2 61563531 61563531 single base substitution A C intron_variant PACA-CA 2 61565636 61565636 deletion of <=200bp A - downstream_gene_variant PACA-CA 2 61565636 61565636 deletion of <=200bp A - intron_variant PACA-CA 2 61567096 61567096 single base substitution G A intron_variant PACA-CA 2 61572755 61572755 single base substitution G A downstream_gene_variant PACA-CA 2 61572755 61572755 single base substitution G A intron_variant PACA-CA 2 61575450 61575450 single base substitution T A 3_prime_UTR_variant PACA-CA 2 61575450 61575450 single base substitution T A missense_variant I614F 1840A>T PACA-CA 2 61575450 61575450 single base substitution T A upstream_gene_variant PACA-CA 2 61575501 61575501 single base substitution G T 3_prime_UTR_variant PACA-CA 2 61575501 61575501 single base substitution G T missense_variant H597N 1789C>A PACA-CA 2 61575501 61575501 single base substitution G T upstream_gene_variant PACA-CA 2 61578539 61578539 single base substitution T C intron_variant PACA-CA 2 61578539 61578539 single base substitution T C upstream_gene_variant PACA-CA 2 61578725 61578725 insertion of <=200bp - A intron_variant PACA-CA 2 61578725 61578725 insertion of <=200bp - A upstream_gene_variant PACA-CA 2 61579063 61579063 single base substitution G A intron_variant PACA-CA 2 61579063 61579063 single base substitution G A upstream_gene_variant PACA-CA 2 61587770 61587770 single base substitution C T intron_variant PACA-CA 2 61594465 61594465 single base substitution A G intron_variant PACA-CA 2 61596160 61596160 single base substitution A G intron_variant PACA-CA 2 61599881 61599881 single base substitution T C intron_variant PACA-CA 2 61602621 61602621 single base substitution C T intron_variant PACA-CA 2 61603932 61603932 single base substitution G A intron_variant PACA-CA 2 61612963 61612963 single base substitution C A intron_variant PACA-CA 2 61613648 61613648 single base substitution G A intron_variant PACA-CA 2 61614448 61614448 single base substitution A C intron_variant PACA-CA 2 61614757 61614757 single base substitution T A intron_variant PACA-CA 2 61614762 61614762 single base substitution C T intron_variant PACA-CA 2 61615112 61615112 deletion of <=200bp A - intron_variant PACA-CA 2 61616189 61616189 single base substitution C T intron_variant PACA-CA 2 61625137 61625137 deletion of <=200bp G - intron_variant PACA-CA 2 61625527 61625527 single base substitution G T intron_variant PACA-CA 2 61626877 61626877 single base substitution G A intron_variant PACA-CA 2 61633272 61633272 insertion of <=200bp - A intron_variant PACA-CA 2 61634546 61634546 single base substitution G A intron_variant PACA-CA 2 61635984 61635984 single base substitution C T intron_variant PACA-CA 2 61640046 61640046 single base substitution A G intron_variant PACA-CA 2 61648163 61648163 deletion of <=200bp G - intron_variant PACA-CA 2 61650431 61650431 single base substitution G C intron_variant PACA-CA 2 61654177 61654177 insertion of <=200bp - T intron_variant PACA-CA 2 61654413 61654413 single base substitution T C intron_variant PACA-CA 2 61656357 61656357 single base substitution C T intron_variant PACA-CA 2 61659620 61659620 single base substitution G A intron_variant PACA-CA 2 61666164 61666164 single base substitution C T intron_variant PACA-CA 2 61668277 61668277 single base substitution T A intron_variant PACA-CA 2 61669899 61669899 single base substitution T C intron_variant PACA-CA 2 61670069 61670069 insertion of <=200bp - ACACACAG intron_variant PACA-CA 2 61670654 61670654 single base substitution G A intron_variant PACA-CA 2 61671996 61671996 single base substitution G A intron_variant PACA-CA 2 61677663 61677663 single base substitution G A intron_variant PACA-CA 2 61681852 61681852 deletion of <=200bp T - intron_variant PACA-CA 2 61683237 61683237 insertion of <=200bp - A intron_variant PACA-CA 2 61684633 61684633 single base substitution C A intron_variant PACA-CA 2 61686058 61686058 single base substitution G A intron_variant PACA-CA 2 61693650 61693650 single base substitution A G intron_variant PACA-CA 2 61694658 61694658 single base substitution C T intron_variant PAEN-AU 2 61430188 61430188 single base substitution G A downstream_gene_variant PAEN-AU 2 61430188 61430188 single base substitution G A intron_variant PAEN-AU 2 61471298 61471298 single base substitution C T intron_variant PAEN-AU 2 61471298 61471298 single base substitution C T upstream_gene_variant PAEN-AU 2 61548302 61548302 single base substitution C T intron_variant PAEN-AU 2 61548317 61548317 single base substitution C A intron_variant PAEN-AU 2 61559217 61559217 single base substitution G C intron_variant PAEN-AU 2 61638036 61638036 single base substitution A G intron_variant PAEN-AU 2 61673075 61673075 single base substitution T C intron_variant PAEN-AU 2 61701171 61701171 single base substitution G T upstream_gene_variant PAEN-IT 2 61496968 61496968 single base substitution A G intron_variant PAEN-IT 2 61496968 61496968 single base substitution A G upstream_gene_variant PAEN-IT 2 61531114 61531114 single base substitution C T intron_variant PAEN-IT 2 61531114 61531114 single base substitution C T upstream_gene_variant PAEN-IT 2 61540892 61540892 single base substitution C A intron_variant PAEN-IT 2 61620492 61620492 single base substitution G A intron_variant PAEN-IT 2 61638771 61638771 single base substitution T C intron_variant PBCA-DE 2 61414650 61414650 single base substitution A G 3_prime_UTR_variant PBCA-DE 2 61414650 61414650 single base substitution A G downstream_gene_variant PBCA-DE 2 61424829 61424829 single base substitution C T intron_variant PBCA-DE 2 61424829 61424829 single base substitution C T upstream_gene_variant PBCA-DE 2 61435198 61435198 insertion of <=200bp - G downstream_gene_variant PBCA-DE 2 61435198 61435198 insertion of <=200bp - G exon_variant PBCA-DE 2 61435198 61435198 insertion of <=200bp - G intron_variant PBCA-DE 2 61435198 61435198 insertion of <=200bp - G upstream_gene_variant PBCA-DE 2 61440975 61440975 single base substitution T C downstream_gene_variant PBCA-DE 2 61440975 61440975 single base substitution T C intron_variant PBCA-DE 2 61477575 61477575 single base substitution A G intron_variant PBCA-DE 2 61497221 61497221 single base substitution G A intron_variant PBCA-DE 2 61497221 61497221 single base substitution G A upstream_gene_variant PBCA-DE 2 61497513 61497513 single base substitution C A intron_variant PBCA-DE 2 61497513 61497513 single base substitution C A upstream_gene_variant PBCA-DE 2 61503252 61503252 deletion of <=200bp C - downstream_gene_variant PBCA-DE 2 61503252 61503252 deletion of <=200bp C - intron_variant PBCA-DE 2 61521582 61521582 insertion of <=200bp - T intron_variant PBCA-DE 2 61523265 61523265 single base substitution C A intron_variant PBCA-DE 2 61532302 61532302 single base substitution T C intron_variant PBCA-DE 2 61532302 61532302 single base substitution T C upstream_gene_variant PBCA-DE 2 61540703 61540703 single base substitution T C intron_variant PBCA-DE 2 61551869 61551869 single base substitution G A intron_variant PBCA-DE 2 61569607 61569607 deletion of <=200bp T - intron_variant PBCA-DE 2 61576812 61576812 single base substitution A G intron_variant PBCA-DE 2 61576812 61576812 single base substitution A G upstream_gene_variant PBCA-DE 2 61580095 61580095 single base substitution G A intron_variant PBCA-DE 2 61580095 61580095 single base substitution G A upstream_gene_variant PBCA-DE 2 61595567 61595567 insertion of <=200bp - A intron_variant PBCA-DE 2 61602904 61602912 deletion of <=200bp AAAAAAAAA - intron_variant PBCA-DE 2 61602929 61602937 deletion of <=200bp AGTAGAAAC - intron_variant PBCA-DE 2 61607033 61607033 single base substitution C A intron_variant PBCA-DE 2 61613797 61613797 single base substitution T C intron_variant PBCA-DE 2 61615994 61615995 deletion of <=200bp AT - intron_variant PBCA-DE 2 61618343 61618345 deletion of <=200bp GGC - intron_variant PBCA-DE 2 61631306 61631306 single base substitution G T intron_variant PBCA-DE 2 61633744 61633744 insertion of <=200bp - A intron_variant PBCA-DE 2 61633986 61633986 insertion of <=200bp - A intron_variant PBCA-DE 2 61648910 61648911 deletion of <=200bp AC - intron_variant PBCA-DE 2 61651901 61651901 deletion of <=200bp A - intron_variant PBCA-DE 2 61663309 61663309 single base substitution C G intron_variant PBCA-DE 2 61665773 61665773 single base substitution C T intron_variant PBCA-DE 2 61700894 61700894 insertion of <=200bp - A upstream_gene_variant PRAD-CA 2 61433249 61433249 single base substitution T A downstream_gene_variant PRAD-CA 2 61433249 61433249 single base substitution T A exon_variant PRAD-CA 2 61433249 61433249 single base substitution T A missense_variant Q3019H 9057A>T PRAD-CA 2 61433249 61433249 single base substitution T A missense_variant Q778H 2334A>T PRAD-CA 2 61433249 61433249 single base substitution T A upstream_gene_variant PRAD-CA 2 61444058 61444058 single base substitution G A downstream_gene_variant PRAD-CA 2 61444058 61444058 single base substitution G A intron_variant PRAD-CA 2 61444058 61444058 single base substitution G A upstream_gene_variant PRAD-CA 2 61457025 61457025 single base substitution A T intron_variant PRAD-CA 2 61459502 61459502 single base substitution G A intron_variant PRAD-CA 2 61488629 61488629 single base substitution G A downstream_gene_variant PRAD-CA 2 61488629 61488629 single base substitution G A intron_variant PRAD-CA 2 61488629 61488629 single base substitution G A upstream_gene_variant PRAD-CA 2 61494631 61494631 single base substitution G A intron_variant PRAD-CA 2 61494631 61494631 single base substitution G A upstream_gene_variant PRAD-CA 2 61529258 61529258 single base substitution C A intron_variant PRAD-CA 2 61529258 61529258 single base substitution C A upstream_gene_variant PRAD-CA 2 61537504 61537504 single base substitution G A intron_variant PRAD-CA 2 61565645 61565645 single base substitution T C downstream_gene_variant PRAD-CA 2 61565645 61565645 single base substitution T C intron_variant PRAD-CA 2 61574319 61574319 single base substitution A G downstream_gene_variant PRAD-CA 2 61574319 61574319 single base substitution A G intron_variant PRAD-CA 2 61586139 61586139 single base substitution A C intron_variant PRAD-CA 2 61607470 61607470 single base substitution T C 3_prime_UTR_variant PRAD-CA 2 61607470 61607470 single base substitution T C missense_variant E283G 848A>G PRAD-CA 2 61608740 61608740 single base substitution G C intron_variant PRAD-CA 2 61609081 61609081 single base substitution T G intron_variant PRAD-CA 2 61664949 61664949 single base substitution T A intron_variant PRAD-CA 2 61676655 61676655 single base substitution C A intron_variant PRAD-CA 2 61695607 61695607 single base substitution T G intron_variant PRAD-UK 2 61415197 61415197 single base substitution G T 3_prime_UTR_variant PRAD-UK 2 61415197 61415197 single base substitution G T downstream_gene_variant PRAD-UK 2 61429771 61429771 single base substitution T C downstream_gene_variant PRAD-UK 2 61429771 61429771 single base substitution T C intron_variant PRAD-UK 2 61429772 61429772 single base substitution C T downstream_gene_variant PRAD-UK 2 61429772 61429772 single base substitution C T intron_variant PRAD-UK 2 61438212 61438212 single base substitution C T downstream_gene_variant PRAD-UK 2 61438212 61438212 single base substitution C T intron_variant PRAD-UK 2 61443792 61443792 single base substitution G A downstream_gene_variant PRAD-UK 2 61443792 61443792 single base substitution G A intron_variant PRAD-UK 2 61443792 61443792 single base substitution G A upstream_gene_variant PRAD-UK 2 61449904 61449904 single base substitution T A downstream_gene_variant PRAD-UK 2 61449904 61449904 single base substitution T A exon_variant PRAD-UK 2 61449904 61449904 single base substitution T A intron_variant PRAD-UK 2 61449904 61449904 single base substitution T A upstream_gene_variant PRAD-UK 2 61450221 61450221 single base substitution G A downstream_gene_variant PRAD-UK 2 61450221 61450221 single base substitution G A exon_variant PRAD-UK 2 61450221 61450221 single base substitution G A intron_variant PRAD-UK 2 61450221 61450221 single base substitution G A stop_gained R2575* 7723C>T PRAD-UK 2 61450221 61450221 single base substitution G A stop_gained R334* 1000C>T PRAD-UK 2 61450221 61450221 single base substitution G A upstream_gene_variant PRAD-UK 2 61465833 61465833 single base substitution C T intron_variant PRAD-UK 2 61468144 61468144 single base substitution T C intron_variant PRAD-UK 2 61493537 61493537 single base substitution C T intron_variant PRAD-UK 2 61493537 61493537 single base substitution C T upstream_gene_variant PRAD-UK 2 61496698 61496698 single base substitution T C intron_variant PRAD-UK 2 61496698 61496698 single base substitution T C upstream_gene_variant PRAD-UK 2 61510398 61510398 single base substitution T C intron_variant PRAD-UK 2 61510398 61510398 single base substitution T C missense_variant H1627R 4880A>G PRAD-UK 2 61510398 61510398 single base substitution T C upstream_gene_variant PRAD-UK 2 61513604 61513604 single base substitution A C intron_variant PRAD-UK 2 61539350 61539350 single base substitution T C intron_variant PRAD-UK 2 61541123 61541123 single base substitution A G intron_variant PRAD-UK 2 61542118 61542118 single base substitution G C intron_variant PRAD-UK 2 61544868 61544868 single base substitution G C missense_variant T1068S 3203C>G PRAD-UK 2 61568266 61568284 deletion of <=200bp ATGTTTTCAATATTCATCC - intron_variant PRAD-UK 2 61573192 61573192 deletion of <=200bp C - downstream_gene_variant PRAD-UK 2 61573192 61573192 deletion of <=200bp C - intron_variant PRAD-UK 2 61582279 61582279 single base substitution C G intron_variant PRAD-UK 2 61592627 61592627 single base substitution A C intron_variant PRAD-UK 2 61597744 61597744 insertion of <=200bp - A intron_variant PRAD-UK 2 61603104 61603106 deletion of <=200bp ACT - intron_variant PRAD-UK 2 61616742 61616742 single base substitution T C intron_variant PRAD-UK 2 61625373 61625373 single base substitution G A intron_variant PRAD-UK 2 61663317 61663317 single base substitution T A intron_variant PRAD-UK 2 61686961 61686961 single base substitution A T intron_variant PRAD-UK 2 61695626 61695626 single base substitution T G intron_variant PRAD-UK 2 61701506 61701506 single base substitution A G upstream_gene_variant READ-US 2 61415646 61415646 single base substitution G T downstream_gene_variant READ-US 2 61415646 61415646 single base substitution G T exon_variant READ-US 2 61415646 61415646 single base substitution G T missense_variant S1087Y 3260C>A READ-US 2 61415646 61415646 single base substitution G T missense_variant S289Y 866C>A READ-US 2 61415646 61415646 single base substitution G T missense_variant S3411Y 10232C>A READ-US 2 61417743 61417743 single base substitution G A downstream_gene_variant READ-US 2 61417743 61417743 single base substitution G A exon_variant READ-US 2 61417743 61417743 single base substitution G A synonymous_variant F3213F 9639C>T READ-US 2 61417743 61417743 single base substitution G A synonymous_variant F889F 2667C>T READ-US 2 61417743 61417743 single base substitution G A synonymous_variant F91F 273C>T READ-US 2 61417743 61417743 single base substitution G A upstream_gene_variant READ-US 2 61448727 61448727 single base substitution G T downstream_gene_variant READ-US 2 61448727 61448727 single base substitution G T exon_variant READ-US 2 61448727 61448727 single base substitution G T missense_variant F2603L 7809C>A READ-US 2 61448727 61448727 single base substitution G T missense_variant F362L 1086C>A READ-US 2 61448727 61448727 single base substitution G T upstream_gene_variant READ-US 2 61505526 61505526 single base substitution C T exon_variant READ-US 2 61505526 61505526 single base substitution C T intron_variant READ-US 2 61505526 61505526 single base substitution C T missense_variant R1770Q 5309G>A READ-US 2 61505526 61505526 single base substitution C T missense_variant R48Q 143G>A READ-US 2 61552564 61552564 single base substitution G A missense_variant R987C 2959C>T READ-US 2 61561037 61561037 single base substitution G A synonymous_variant Y938Y 2814C>T READ-US 2 61577702 61577702 single base substitution C T splice_donor_variant READ-US 2 61577702 61577702 single base substitution C T upstream_gene_variant RECA-EU 2 61430639 61430639 single base substitution T A downstream_gene_variant RECA-EU 2 61430639 61430639 single base substitution T A intron_variant RECA-EU 2 61447802 61447802 single base substitution C A downstream_gene_variant RECA-EU 2 61447802 61447802 single base substitution C A intron_variant RECA-EU 2 61447802 61447802 single base substitution C A upstream_gene_variant RECA-EU 2 61453957 61453957 single base substitution G A 3_prime_UTR_variant RECA-EU 2 61453957 61453957 single base substitution G A intron_variant RECA-EU 2 61453957 61453957 single base substitution G A upstream_gene_variant RECA-EU 2 61471130 61471130 single base substitution G T intron_variant RECA-EU 2 61471130 61471130 single base substitution G T upstream_gene_variant RECA-EU 2 61477161 61477161 single base substitution C A intron_variant RECA-EU 2 61478655 61478655 single base substitution T A intron_variant RECA-EU 2 61481273 61481273 single base substitution T A intron_variant RECA-EU 2 61482731 61482731 single base substitution C A intron_variant RECA-EU 2 61485394 61485394 single base substitution G C intron_variant RECA-EU 2 61485394 61485394 single base substitution G C upstream_gene_variant RECA-EU 2 61507311 61507311 single base substitution A C intron_variant RECA-EU 2 61507449 61507449 single base substitution G C exon_variant RECA-EU 2 61507449 61507449 single base substitution G C intron_variant RECA-EU 2 61507449 61507449 single base substitution G C missense_variant P1729R 5186C>G RECA-EU 2 61507449 61507449 single base substitution G C missense_variant P7R 20C>G RECA-EU 2 61513787 61513787 single base substitution C G intron_variant RECA-EU 2 61523597 61523597 single base substitution C A intron_variant RECA-EU 2 61524085 61524085 single base substitution T C intron_variant RECA-EU 2 61529500 61529500 single base substitution A G intron_variant RECA-EU 2 61529500 61529500 single base substitution A G upstream_gene_variant RECA-EU 2 61533562 61533562 single base substitution A C intron_variant RECA-EU 2 61538318 61538318 single base substitution G A intron_variant RECA-EU 2 61538594 61538594 single base substitution G A intron_variant RECA-EU 2 61542194 61542194 single base substitution A C intron_variant RECA-EU 2 61542869 61542869 single base substitution T A intron_variant RECA-EU 2 61565538 61565538 single base substitution C A downstream_gene_variant RECA-EU 2 61565538 61565538 single base substitution C A intron_variant RECA-EU 2 61565994 61565994 single base substitution A C downstream_gene_variant RECA-EU 2 61565994 61565994 single base substitution A C intron_variant RECA-EU 2 61566311 61566311 single base substitution A G downstream_gene_variant RECA-EU 2 61566311 61566311 single base substitution A G intron_variant RECA-EU 2 61569586 61569586 single base substitution C T intron_variant RECA-EU 2 61594011 61594011 single base substitution C T intron_variant RECA-EU 2 61597877 61597877 single base substitution T A intron_variant RECA-EU 2 61619515 61619515 single base substitution T G intron_variant RECA-EU 2 61632386 61632386 single base substitution A G intron_variant RECA-EU 2 61632387 61632387 single base substitution A G intron_variant RECA-EU 2 61632389 61632389 single base substitution A G intron_variant RECA-EU 2 61632946 61632946 single base substitution C T intron_variant RECA-EU 2 61632946 61632946 single base substitution C T missense_variant S150N 449G>A RECA-EU 2 61633092 61633092 single base substitution T C intron_variant RECA-EU 2 61633092 61633092 single base substitution T C synonymous_variant A101A 303A>G RECA-EU 2 61634242 61634242 single base substitution C G intron_variant RECA-EU 2 61661282 61661282 single base substitution G A intron_variant RECA-EU 2 61671224 61671224 single base substitution T C intron_variant RECA-EU 2 61671388 61671388 single base substitution A G intron_variant RECA-EU 2 61672166 61672166 single base substitution G A intron_variant RECA-EU 2 61683216 61683216 single base substitution T G intron_variant SKCA-BR 2 61410153 61410153 single base substitution G A downstream_gene_variant SKCA-BR 2 61416618 61416621 deletion of <=200bp ATTG - downstream_gene_variant SKCA-BR 2 61416618 61416621 deletion of <=200bp ATTG - exon_variant SKCA-BR 2 61416618 61416621 deletion of <=200bp ATTG - intron_variant SKCA-BR 2 61416619 61416622 deletion of <=200bp TTGA - downstream_gene_variant SKCA-BR 2 61416619 61416622 deletion of <=200bp TTGA - exon_variant SKCA-BR 2 61416619 61416622 deletion of <=200bp TTGA - intron_variant SKCA-BR 2 61416622 61416622 single base substitution A G downstream_gene_variant SKCA-BR 2 61416622 61416622 single base substitution A G exon_variant SKCA-BR 2 61416622 61416622 single base substitution A G intron_variant SKCA-BR 2 61419422 61419422 single base substitution G A intron_variant SKCA-BR 2 61419422 61419422 single base substitution G A upstream_gene_variant SKCA-BR 2 61420805 61420805 single base substitution A G intron_variant SKCA-BR 2 61420805 61420805 single base substitution A G upstream_gene_variant SKCA-BR 2 61425692 61425693 deletion of <=200bp CT - intron_variant SKCA-BR 2 61428346 61428347 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 2 61428346 61428347 deletion of <=200bp GT - intron_variant SKCA-BR 2 61435673 61435673 single base substitution G A downstream_gene_variant SKCA-BR 2 61435673 61435673 single base substitution G A exon_variant SKCA-BR 2 61435673 61435673 single base substitution G A intron_variant SKCA-BR 2 61435673 61435673 single base substitution G A upstream_gene_variant SKCA-BR 2 61436913 61436913 single base substitution C T downstream_gene_variant SKCA-BR 2 61436913 61436913 single base substitution C T intron_variant SKCA-BR 2 61439096 61439097 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 2 61439096 61439097 deletion of <=200bp TA - intron_variant SKCA-BR 2 61440633 61440633 single base substitution C T downstream_gene_variant SKCA-BR 2 61440633 61440633 single base substitution C T intron_variant SKCA-BR 2 61449346 61449346 single base substitution G A downstream_gene_variant SKCA-BR 2 61449346 61449346 single base substitution G A intron_variant SKCA-BR 2 61449346 61449346 single base substitution G A upstream_gene_variant SKCA-BR 2 61449408 61449408 single base substitution T C downstream_gene_variant SKCA-BR 2 61449408 61449408 single base substitution T C intron_variant SKCA-BR 2 61449408 61449408 single base substitution T C upstream_gene_variant SKCA-BR 2 61452879 61452879 single base substitution T C downstream_gene_variant SKCA-BR 2 61452879 61452879 single base substitution T C intron_variant SKCA-BR 2 61452879 61452879 single base substitution T C upstream_gene_variant SKCA-BR 2 61454630 61454630 single base substitution G T intron_variant SKCA-BR 2 61454630 61454630 single base substitution G T upstream_gene_variant SKCA-BR 2 61456605 61456605 insertion of <=200bp - AC intron_variant SKCA-BR 2 61456609 61456609 insertion of <=200bp - AC intron_variant SKCA-BR 2 61456624 61456624 single base substitution C A intron_variant SKCA-BR 2 61461643 61461643 single base substitution A G intron_variant SKCA-BR 2 61461652 61461652 single base substitution A G intron_variant SKCA-BR 2 61466439 61466439 single base substitution A T intron_variant SKCA-BR 2 61467164 61467164 single base substitution G A intron_variant SKCA-BR 2 61468711 61468711 single base substitution G A exon_variant SKCA-BR 2 61468711 61468711 single base substitution G A intron_variant SKCA-BR 2 61468711 61468711 single base substitution G A missense_variant S13L 38C>T SKCA-BR 2 61468711 61468711 single base substitution G A missense_variant S2254L 6761C>T SKCA-BR 2 61468711 61468711 single base substitution G A missense_variant S532L 1595C>T SKCA-BR 2 61469593 61469597 deletion of <=200bp TACAC - intron_variant SKCA-BR 2 61469593 61469597 deletion of <=200bp TACAC - upstream_gene_variant SKCA-BR 2 61470693 61470696 deletion of <=200bp ATTT - intron_variant SKCA-BR 2 61470693 61470696 deletion of <=200bp ATTT - upstream_gene_variant SKCA-BR 2 61470712 61470713 deletion of <=200bp TA - intron_variant SKCA-BR 2 61470712 61470713 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 2 61470959 61470959 single base substitution C T intron_variant SKCA-BR 2 61470959 61470959 single base substitution C T upstream_gene_variant SKCA-BR 2 61473635 61473635 single base substitution G A intron_variant SKCA-BR 2 61473635 61473635 single base substitution G A upstream_gene_variant SKCA-BR 2 61474506 61474506 single base substitution G A intron_variant SKCA-BR 2 61481473 61481473 single base substitution A G intron_variant SKCA-BR 2 61485403 61485403 single base substitution G A intron_variant SKCA-BR 2 61485403 61485403 single base substitution G A upstream_gene_variant SKCA-BR 2 61486313 61486313 single base substitution G A intron_variant SKCA-BR 2 61486313 61486313 single base substitution G A upstream_gene_variant SKCA-BR 2 61487075 61487075 single base substitution A G intron_variant SKCA-BR 2 61487075 61487075 single base substitution A G upstream_gene_variant SKCA-BR 2 61489241 61489253 deletion of <=200bp AAAAAAAAAAAAT - downstream_gene_variant SKCA-BR 2 61489241 61489253 deletion of <=200bp AAAAAAAAAAAAT - intron_variant SKCA-BR 2 61490424 61490424 single base substitution T C downstream_gene_variant SKCA-BR 2 61490424 61490424 single base substitution T C intron_variant SKCA-BR 2 61494092 61494092 single base substitution G A intron_variant SKCA-BR 2 61494092 61494092 single base substitution G A upstream_gene_variant SKCA-BR 2 61497250 61497250 single base substitution A C intron_variant SKCA-BR 2 61497250 61497250 single base substitution A C upstream_gene_variant SKCA-BR 2 61499533 61499533 single base substitution G A intron_variant SKCA-BR 2 61505796 61505796 single base substitution G A intron_variant SKCA-BR 2 61506483 61506483 single base substitution G A intron_variant SKCA-BR 2 61516658 61516658 single base substitution T G intron_variant SKCA-BR 2 61517400 61517400 single base substitution G A intron_variant SKCA-BR 2 61518234 61518234 single base substitution C T intron_variant SKCA-BR 2 61521400 61521400 single base substitution G A intron_variant SKCA-BR 2 61521497 61521497 insertion of <=200bp - TAC intron_variant SKCA-BR 2 61524002 61524002 single base substitution T C exon_variant SKCA-BR 2 61524002 61524002 single base substitution T C missense_variant E1396G 4187A>G SKCA-BR 2 61524115 61524115 single base substitution T C intron_variant SKCA-BR 2 61527971 61527971 single base substitution G A intron_variant SKCA-BR 2 61529043 61529043 single base substitution C T intron_variant SKCA-BR 2 61529043 61529043 single base substitution C T upstream_gene_variant SKCA-BR 2 61529291 61529291 single base substitution G A intron_variant SKCA-BR 2 61529291 61529291 single base substitution G A upstream_gene_variant SKCA-BR 2 61529299 61529299 single base substitution A G intron_variant SKCA-BR 2 61529299 61529299 single base substitution A G upstream_gene_variant SKCA-BR 2 61534066 61534066 single base substitution G A intron_variant SKCA-BR 2 61536695 61536695 single base substitution G A intron_variant SKCA-BR 2 61538602 61538602 insertion of <=200bp - GAAAAGAGAAAGAAAAAGAAAA intron_variant SKCA-BR 2 61538613 61538613 insertion of <=200bp - GAAAAAGAAA intron_variant SKCA-BR 2 61539606 61539606 single base substitution T C intron_variant SKCA-BR 2 61541683 61541683 single base substitution G A intron_variant SKCA-BR 2 61547586 61547586 single base substitution G C intron_variant SKCA-BR 2 61548779 61548779 single base substitution G A intron_variant SKCA-BR 2 61550649 61550649 insertion of <=200bp - CA intron_variant SKCA-BR 2 61553868 61553868 single base substitution T G intron_variant SKCA-BR 2 61556250 61556250 single base substitution G A intron_variant SKCA-BR 2 61560080 61560080 single base substitution A G intron_variant SKCA-BR 2 61560264 61560264 single base substitution T C intron_variant SKCA-BR 2 61561373 61561373 single base substitution G A intron_variant SKCA-BR 2 61566536 61566536 single base substitution T C downstream_gene_variant SKCA-BR 2 61566536 61566536 single base substitution T C synonymous_variant Q898Q 2694A>G SKCA-BR 2 61568024 61568024 single base substitution A G intron_variant SKCA-BR 2 61568890 61568890 insertion of <=200bp - CT intron_variant SKCA-BR 2 61570012 61570012 single base substitution G A intron_variant SKCA-BR 2 61573486 61573487 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 2 61573486 61573487 deletion of <=200bp TA - intron_variant SKCA-BR 2 61573486 61573487 deletion of <=200bp TA - splice_region_variant SKCA-BR 2 61582820 61582820 single base substitution G A intron_variant SKCA-BR 2 61583607 61583607 insertion of <=200bp - AGC intron_variant SKCA-BR 2 61583610 61583610 insertion of <=200bp - GCA intron_variant SKCA-BR 2 61587723 61587723 single base substitution G A intron_variant SKCA-BR 2 61592391 61592393 deletion of <=200bp TAC - intron_variant SKCA-BR 2 61595915 61595915 single base substitution T A intron_variant SKCA-BR 2 61597381 61597381 single base substitution G A intron_variant SKCA-BR 2 61601291 61601291 insertion of <=200bp - AG intron_variant SKCA-BR 2 61602023 61602023 single base substitution G A intron_variant SKCA-BR 2 61604253 61604253 single base substitution A G intron_variant SKCA-BR 2 61608629 61608629 single base substitution A C intron_variant SKCA-BR 2 61610785 61610785 single base substitution G A intron_variant SKCA-BR 2 61610786 61610786 single base substitution A G intron_variant SKCA-BR 2 61611455 61611456 deletion of <=200bp CA - intron_variant SKCA-BR 2 61611579 61611579 single base substitution T G intron_variant SKCA-BR 2 61612881 61612881 single base substitution C A intron_variant SKCA-BR 2 61615093 61615093 insertion of <=200bp - CAT intron_variant SKCA-BR 2 61615591 61615591 insertion of <=200bp - TA intron_variant SKCA-BR 2 61617847 61617849 deletion of <=200bp GAA - intron_variant SKCA-BR 2 61618578 61618578 single base substitution G A intron_variant SKCA-BR 2 61618614 61618614 single base substitution T C intron_variant SKCA-BR 2 61620564 61620564 insertion of <=200bp - TAA intron_variant SKCA-BR 2 61623403 61623403 single base substitution G A intron_variant SKCA-BR 2 61627237 61627237 single base substitution G A intron_variant SKCA-BR 2 61627245 61627246 deletion of <=200bp AT - intron_variant SKCA-BR 2 61631765 61631765 single base substitution A C intron_variant SKCA-BR 2 61632386 61632386 single base substitution A G intron_variant SKCA-BR 2 61633992 61633992 single base substitution A T intron_variant SKCA-BR 2 61635143 61635143 single base substitution G A intron_variant SKCA-BR 2 61640021 61640021 insertion of <=200bp - CA intron_variant SKCA-BR 2 61640616 61640616 single base substitution T G intron_variant SKCA-BR 2 61640664 61640664 single base substitution A G intron_variant SKCA-BR 2 61641408 61641408 insertion of <=200bp - TA intron_variant SKCA-BR 2 61643631 61643631 single base substitution T C intron_variant SKCA-BR 2 61644866 61644866 single base substitution C T intron_variant SKCA-BR 2 61649395 61649395 single base substitution T C intron_variant SKCA-BR 2 61649926 61649926 single base substitution G A intron_variant SKCA-BR 2 61650054 61650054 single base substitution G A intron_variant SKCA-BR 2 61650823 61650823 single base substitution G A intron_variant SKCA-BR 2 61655319 61655319 single base substitution T G intron_variant SKCA-BR 2 61661846 61661846 single base substitution A C intron_variant SKCA-BR 2 61661903 61661903 insertion of <=200bp - AG intron_variant SKCA-BR 2 61665336 61665336 single base substitution C T intron_variant SKCA-BR 2 61667073 61667073 single base substitution G A intron_variant SKCA-BR 2 61667574 61667574 single base substitution G A intron_variant SKCA-BR 2 61673723 61673723 single base substitution G A intron_variant SKCA-BR 2 61678021 61678021 insertion of <=200bp - CA intron_variant SKCA-BR 2 61681775 61681775 single base substitution C T intron_variant SKCA-BR 2 61682003 61682005 deletion of <=200bp TTC - intron_variant SKCA-BR 2 61682004 61682005 deletion of <=200bp TC - intron_variant SKCA-BR 2 61682005 61682005 single base substitution C T intron_variant SKCA-BR 2 61682178 61682178 single base substitution A G intron_variant SKCA-BR 2 61682684 61682684 single base substitution G A intron_variant SKCA-BR 2 61682976 61682976 single base substitution C T intron_variant SKCA-BR 2 61683984 61683984 single base substitution A T intron_variant SKCA-BR 2 61684494 61684494 single base substitution G A intron_variant SKCA-BR 2 61686899 61686899 insertion of <=200bp - CA intron_variant SKCA-BR 2 61689311 61689311 single base substitution T G intron_variant SKCA-BR 2 61689980 61689980 single base substitution G A intron_variant SKCA-BR 2 61689984 61689984 single base substitution G A intron_variant SKCA-BR 2 61691852 61691853 deletion of <=200bp CA - intron_variant SKCA-BR 2 61694740 61694740 single base substitution G A intron_variant SKCA-BR 2 61696522 61696522 single base substitution C T intron_variant SKCA-BR 2 61700592 61700592 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 2 61700773 61700773 single base substitution A G upstream_gene_variant SKCM-US 2 61412663 61412663 single base substitution G T downstream_gene_variant SKCM-US 2 61413791 61413791 single base substitution T A downstream_gene_variant SKCM-US 2 61413920 61413920 single base substitution G A downstream_gene_variant SKCM-US 2 61415349 61415349 single base substitution A C downstream_gene_variant SKCM-US 2 61415349 61415349 single base substitution A C missense_variant L1186R 3557T>G SKCM-US 2 61415349 61415349 single base substitution A C missense_variant L3510R 10529T>G SKCM-US 2 61415349 61415349 single base substitution A C missense_variant L388R 1163T>G SKCM-US 2 61415640 61415640 single base substitution T A downstream_gene_variant SKCM-US 2 61415640 61415640 single base substitution T A exon_variant SKCM-US 2 61415640 61415640 single base substitution T A missense_variant K1089I 3266A>T SKCM-US 2 61415640 61415640 single base substitution T A missense_variant K291I 872A>T SKCM-US 2 61415640 61415640 single base substitution T A missense_variant K3413I 10238A>T SKCM-US 2 61415732 61415732 single base substitution T C downstream_gene_variant SKCM-US 2 61415732 61415732 single base substitution T C exon_variant SKCM-US 2 61415732 61415732 single base substitution T C synonymous_variant P1058P 3174A>G SKCM-US 2 61415732 61415732 single base substitution T C synonymous_variant P260P 780A>G SKCM-US 2 61415732 61415732 single base substitution T C synonymous_variant P3382P 10146A>G SKCM-US 2 61416152 61416152 single base substitution T A downstream_gene_variant SKCM-US 2 61416152 61416152 single base substitution T A exon_variant SKCM-US 2 61416152 61416152 single base substitution T A missense_variant N187I 560A>T SKCM-US 2 61416152 61416152 single base substitution T A missense_variant N3309I 9926A>T SKCM-US 2 61416152 61416152 single base substitution T A missense_variant N985I 2954A>T SKCM-US 2 61430335 61430335 single base substitution G C downstream_gene_variant SKCM-US 2 61430335 61430335 single base substitution G C exon_variant SKCM-US 2 61430335 61430335 single base substitution G C intron_variant SKCM-US 2 61430335 61430335 single base substitution G C missense_variant H28D 82C>G SKCM-US 2 61430335 61430335 single base substitution G C missense_variant H3150D 9448C>G SKCM-US 2 61441559 61441559 single base substitution G A downstream_gene_variant SKCM-US 2 61441559 61441559 single base substitution G A intron_variant SKCM-US 2 61441559 61441559 single base substitution G A missense_variant S2773F 8318C>T SKCM-US 2 61441559 61441559 single base substitution G A missense_variant S532F 1595C>T SKCM-US 2 61441800 61441800 single base substitution G A exon_variant SKCM-US 2 61441800 61441800 single base substitution G A intron_variant SKCM-US 2 61441800 61441800 single base substitution G A missense_variant P2693S 8077C>T SKCM-US 2 61441800 61441800 single base substitution G A missense_variant P452S 1354C>T SKCM-US 2 61441800 61441800 single base substitution G A upstream_gene_variant SKCM-US 2 61450224 61450224 single base substitution A C downstream_gene_variant SKCM-US 2 61450224 61450224 single base substitution A C exon_variant SKCM-US 2 61450224 61450224 single base substitution A C intron_variant SKCM-US 2 61450224 61450224 single base substitution A C missense_variant C2574G 7720T>G SKCM-US 2 61450224 61450224 single base substitution A C missense_variant C333G 997T>G SKCM-US 2 61450224 61450224 single base substitution A C upstream_gene_variant SKCM-US 2 61454326 61454326 single base substitution C T exon_variant SKCM-US 2 61454326 61454326 single base substitution C T intron_variant SKCM-US 2 61454326 61454326 single base substitution C T missense_variant E2491K 7471G>A SKCM-US 2 61454326 61454326 single base substitution C T missense_variant E250K 748G>A SKCM-US 2 61454326 61454326 single base substitution C T missense_variant E769K 2305G>A SKCM-US 2 61454326 61454326 single base substitution C T upstream_gene_variant SKCM-US 2 61468711 61468711 single base substitution G A exon_variant SKCM-US 2 61468711 61468711 single base substitution G A intron_variant SKCM-US 2 61468711 61468711 single base substitution G A missense_variant S13L 38C>T SKCM-US 2 61468711 61468711 single base substitution G A missense_variant S2254L 6761C>T SKCM-US 2 61468711 61468711 single base substitution G A missense_variant S532L 1595C>T SKCM-US 2 61484347 61484347 single base substitution G A intron_variant SKCM-US 2 61484347 61484347 single base substitution G A missense_variant P1995S 5983C>T SKCM-US 2 61484347 61484347 single base substitution G A missense_variant P273S 817C>T SKCM-US 2 61484347 61484347 single base substitution G A upstream_gene_variant SKCM-US 2 61493252 61493252 single base substitution C T exon_variant SKCM-US 2 61493252 61493252 single base substitution C T intron_variant SKCM-US 2 61493252 61493252 single base substitution C T synonymous_variant K106K 318G>A SKCM-US 2 61493252 61493252 single base substitution C T synonymous_variant K1828K 5484G>A SKCM-US 2 61493252 61493252 single base substitution C T upstream_gene_variant SKCM-US 2 61508254 61508254 single base substitution G A exon_variant SKCM-US 2 61508254 61508254 single base substitution G A intron_variant SKCM-US 2 61508254 61508254 single base substitution G A missense_variant P1708S 5122C>T SKCM-US 2 61508254 61508254 single base substitution G A upstream_gene_variant SKCM-US 2 61510285 61510285 single base substitution G A intron_variant SKCM-US 2 61510285 61510285 single base substitution G A missense_variant P1665S 4993C>T SKCM-US 2 61510285 61510285 single base substitution G A upstream_gene_variant SKCM-US 2 61512070 61512070 single base substitution C T intron_variant SKCM-US 2 61512070 61512070 single base substitution C T missense_variant G1591E 4772G>A SKCM-US 2 61512070 61512070 single base substitution C T upstream_gene_variant SKCM-US 2 61528235 61528235 single base substitution G A missense_variant P1327S 3979C>T SKCM-US 2 61528235 61528235 single base substitution G A upstream_gene_variant SKCM-US 2 61528560 61528560 single base substitution A C missense_variant S1283A 3847T>G SKCM-US 2 61528560 61528560 single base substitution A C upstream_gene_variant SKCM-US 2 61571002 61571002 single base substitution G A downstream_gene_variant SKCM-US 2 61571002 61571002 single base substitution G A exon_variant SKCM-US 2 61571002 61571002 single base substitution G A synonymous_variant L816L 2448C>T SKCM-US 2 61597488 61597488 single base substitution G A 3_prime_UTR_variant SKCM-US 2 61597488 61597488 single base substitution G A stop_gained Q407* 1219C>T SKCM-US 2 61610405 61610405 single base substitution T C missense_variant R274G 820A>G SKCM-US 2 61610405 61610405 single base substitution T C splice_region_variant STAD-US 2 61411875 61411875 single base substitution G A downstream_gene_variant STAD-US 2 61415812 61415812 single base substitution G A downstream_gene_variant STAD-US 2 61415812 61415812 single base substitution G A exon_variant STAD-US 2 61415812 61415812 single base substitution G A missense_variant R1032C 3094C>T STAD-US 2 61415812 61415812 single base substitution G A missense_variant R234C 700C>T STAD-US 2 61415812 61415812 single base substitution G A missense_variant R3356C 10066C>T STAD-US 2 61416142 61416142 single base substitution T C downstream_gene_variant STAD-US 2 61416142 61416142 single base substitution T C exon_variant STAD-US 2 61416142 61416142 single base substitution T C synonymous_variant L190L 570A>G STAD-US 2 61416142 61416142 single base substitution T C synonymous_variant L3312L 9936A>G STAD-US 2 61416142 61416142 single base substitution T C synonymous_variant L988L 2964A>G STAD-US 2 61430387 61430387 single base substitution G A downstream_gene_variant STAD-US 2 61430387 61430387 single base substitution G A exon_variant STAD-US 2 61430387 61430387 single base substitution G A intron_variant STAD-US 2 61430387 61430387 single base substitution G A synonymous_variant D3132D 9396C>T STAD-US 2 61433932 61433932 single base substitution C T downstream_gene_variant STAD-US 2 61433932 61433932 single base substitution C T exon_variant STAD-US 2 61433932 61433932 single base substitution C T synonymous_variant S3003S 9009G>A STAD-US 2 61433932 61433932 single base substitution C T synonymous_variant S762S 2286G>A STAD-US 2 61433932 61433932 single base substitution C T upstream_gene_variant STAD-US 2 61439030 61439030 single base substitution A C downstream_gene_variant STAD-US 2 61439030 61439030 single base substitution A C exon_variant STAD-US 2 61439030 61439030 single base substitution A C missense_variant F2906C 8717T>G STAD-US 2 61439030 61439030 single base substitution A C missense_variant F665C 1994T>G STAD-US 2 61439037 61439037 single base substitution G A downstream_gene_variant STAD-US 2 61439037 61439037 single base substitution G A exon_variant STAD-US 2 61439037 61439037 single base substitution G A stop_gained Q2904* 8710C>T STAD-US 2 61439037 61439037 single base substitution G A stop_gained Q663* 1987C>T STAD-US 2 61441427 61441427 single base substitution C T downstream_gene_variant STAD-US 2 61441427 61441427 single base substitution C T intron_variant STAD-US 2 61441427 61441427 single base substitution C T missense_variant R2817H 8450G>A STAD-US 2 61441427 61441427 single base substitution C T missense_variant R576H 1727G>A STAD-US 2 61441428 61441428 single base substitution G A downstream_gene_variant STAD-US 2 61441428 61441428 single base substitution G A intron_variant STAD-US 2 61441428 61441428 single base substitution G A missense_variant R2817C 8449C>T STAD-US 2 61441428 61441428 single base substitution G A missense_variant R576C 1726C>T STAD-US 2 61447484 61447484 single base substitution G A downstream_gene_variant STAD-US 2 61447484 61447484 single base substitution G A exon_variant STAD-US 2 61447484 61447484 single base substitution G A missense_variant R2670W 8008C>T STAD-US 2 61447484 61447484 single base substitution G A missense_variant R429W 1285C>T STAD-US 2 61450271 61450271 single base substitution C T downstream_gene_variant STAD-US 2 61450271 61450271 single base substitution C T exon_variant STAD-US 2 61450271 61450271 single base substitution C T intron_variant STAD-US 2 61450271 61450271 single base substitution C T missense_variant R2558H 7673G>A STAD-US 2 61450271 61450271 single base substitution C T missense_variant R317H 950G>A STAD-US 2 61450271 61450271 single base substitution C T upstream_gene_variant STAD-US 2 61455842 61455842 single base substitution G A exon_variant STAD-US 2 61455842 61455842 single base substitution G A intron_variant STAD-US 2 61455842 61455842 single base substitution G A missense_variant L220F 658C>T STAD-US 2 61455842 61455842 single base substitution G A missense_variant L2461F 7381C>T STAD-US 2 61455842 61455842 single base substitution G A missense_variant L739F 2215C>T STAD-US 2 61468760 61468760 single base substitution G A exon_variant STAD-US 2 61468760 61468760 single base substitution G A intron_variant STAD-US 2 61468760 61468760 single base substitution G A missense_variant R2238C 6712C>T STAD-US 2 61468760 61468760 single base substitution G A missense_variant R516C 1546C>T STAD-US 2 61468760 61468760 single base substitution G A upstream_gene_variant STAD-US 2 61475795 61475795 single base substitution C T exon_variant STAD-US 2 61475795 61475795 single base substitution C T intron_variant STAD-US 2 61475795 61475795 single base substitution C T missense_variant R2082H 6245G>A STAD-US 2 61475795 61475795 single base substitution C T missense_variant R360H 1079G>A STAD-US 2 61475803 61475803 single base substitution T C exon_variant STAD-US 2 61475803 61475803 single base substitution T C intron_variant STAD-US 2 61475803 61475803 single base substitution T C synonymous_variant K2079K 6237A>G STAD-US 2 61475803 61475803 single base substitution T C synonymous_variant K357K 1071A>G STAD-US 2 61483553 61483553 single base substitution A C exon_variant STAD-US 2 61483553 61483553 single base substitution A C intron_variant STAD-US 2 61483553 61483553 single base substitution A C missense_variant S2063A 6187T>G STAD-US 2 61483553 61483553 single base substitution A C missense_variant S341A 1021T>G STAD-US 2 61493232 61493232 single base substitution C A exon_variant STAD-US 2 61493232 61493232 single base substitution C A intron_variant STAD-US 2 61493232 61493232 single base substitution C A missense_variant C113F 338G>T STAD-US 2 61493232 61493232 single base substitution C A missense_variant C1835F 5504G>T STAD-US 2 61493232 61493232 single base substitution C A upstream_gene_variant STAD-US 2 61508272 61508272 single base substitution T C exon_variant STAD-US 2 61508272 61508272 single base substitution T C intron_variant STAD-US 2 61508272 61508272 single base substitution T C missense_variant T1702A 5104A>G STAD-US 2 61508272 61508272 single base substitution T C upstream_gene_variant STAD-US 2 61508298 61508298 single base substitution C T intron_variant STAD-US 2 61508298 61508298 single base substitution C T missense_variant R1693H 5078G>A STAD-US 2 61508298 61508298 single base substitution C T upstream_gene_variant STAD-US 2 61508340 61508340 single base substitution T G intron_variant STAD-US 2 61508340 61508340 single base substitution T G missense_variant K1679T 5036A>C STAD-US 2 61508340 61508340 single base substitution T G upstream_gene_variant STAD-US 2 61515896 61515896 single base substitution G A intron_variant STAD-US 2 61515896 61515896 single base substitution G A synonymous_variant S1555S 4665C>T STAD-US 2 61522168 61522168 single base substitution C A intron_variant STAD-US 2 61522168 61522168 single base substitution C A splice_acceptor_variant STAD-US 2 61552563 61552563 single base substitution C T missense_variant R987H 2960G>A STAD-US 2 61571087 61571087 deletion of <=200bp T - downstream_gene_variant STAD-US 2 61571087 61571087 deletion of <=200bp T - exon_variant STAD-US 2 61571087 61571087 deletion of <=200bp T - frameshift_variant N788 STAD-US 2 61571087 61571087 insertion of <=200bp - T downstream_gene_variant STAD-US 2 61571087 61571087 insertion of <=200bp - T exon_variant STAD-US 2 61571087 61571087 insertion of <=200bp - T frameshift_variant N788K? STAD-US 2 61575028 61575028 single base substitution G A downstream_gene_variant STAD-US 2 61575028 61575028 single base substitution G A exon_variant STAD-US 2 61575028 61575028 single base substitution G A synonymous_variant H754H 2262C>T STAD-US 2 61575065 61575065 single base substitution C T downstream_gene_variant STAD-US 2 61575065 61575065 single base substitution C T exon_variant STAD-US 2 61575065 61575065 single base substitution C T missense_variant R742Q 2225G>A STAD-US 2 61575116 61575116 single base substitution C T downstream_gene_variant STAD-US 2 61575116 61575116 single base substitution C T exon_variant STAD-US 2 61575116 61575116 single base substitution C T missense_variant R725Q 2174G>A STAD-US 2 61575222 61575222 single base substitution G A downstream_gene_variant STAD-US 2 61575222 61575222 single base substitution G A stop_gained R690* 2068C>T STAD-US 2 61575222 61575222 single base substitution G A upstream_gene_variant STAD-US 2 61575984 61575984 single base substitution G A 3_prime_UTR_variant STAD-US 2 61575984 61575984 single base substitution G A synonymous_variant S527S 1581C>T STAD-US 2 61575984 61575984 single base substitution G A upstream_gene_variant STAD-US 2 61577527 61577527 deletion of <=200bp A - splice_region_variant STAD-US 2 61577527 61577527 deletion of <=200bp A - upstream_gene_variant STAD-US 2 61597500 61597500 single base substitution G A 3_prime_UTR_variant STAD-US 2 61597500 61597500 single base substitution G A stop_gained R403* 1207C>T STAD-US 2 61607324 61607324 single base substitution C T 3_prime_UTR_variant STAD-US 2 61607324 61607324 single base substitution C T missense_variant A332T 994G>A STAD-US 2 61607348 61607348 single base substitution A G 3_prime_UTR_variant STAD-US 2 61607348 61607348 single base substitution A G missense_variant S324P 970T>C STAD-US 2 61607407 61607407 single base substitution A T 3_prime_UTR_variant STAD-US 2 61607407 61607407 single base substitution A T stop_gained L304* 911T>A THCA-SA 2 61413822 61413822 insertion of <=200bp - CTAT downstream_gene_variant THCA-SA 2 61528259 61528259 single base substitution G T synonymous_variant R1319R 3955C>A THCA-SA 2 61528259 61528259 single base substitution G T upstream_gene_variant THCA-SA 2 61577435 61577435 single base substitution T C 3_prime_UTR_variant THCA-SA 2 61577435 61577435 single base substitution T C synonymous_variant A489A 1467A>G THCA-SA 2 61577435 61577435 single base substitution T C upstream_gene_variant THCA-US 2 61417450 61417450 single base substitution A G downstream_gene_variant THCA-US 2 61417450 61417450 single base substitution A G exon_variant THCA-US 2 61417450 61417450 single base substitution A G missense_variant S155P 463T>C THCA-US 2 61417450 61417450 single base substitution A G missense_variant S3277P 9829T>C THCA-US 2 61417450 61417450 single base substitution A G missense_variant S953P 2857T>C THCA-US 2 61417450 61417450 single base substitution A G upstream_gene_variant THCA-US 2 61438933 61438933 single base substitution G A downstream_gene_variant THCA-US 2 61438933 61438933 single base substitution G A exon_variant THCA-US 2 61438933 61438933 single base substitution G A synonymous_variant G2938G 8814C>T THCA-US 2 61438933 61438933 single base substitution G A synonymous_variant G697G 2091C>T UCEC-US 2 61411852 61411852 single base substitution A G downstream_gene_variant UCEC-US 2 61415279 61415279 single base substitution G T downstream_gene_variant UCEC-US 2 61415279 61415279 single base substitution G T synonymous_variant V1209V 3627C>A UCEC-US 2 61415279 61415279 single base substitution G T synonymous_variant V3533V 10599C>A UCEC-US 2 61415279 61415279 single base substitution G T synonymous_variant V411V 1233C>A UCEC-US 2 61415350 61415350 single base substitution G A downstream_gene_variant UCEC-US 2 61415350 61415350 single base substitution G A missense_variant L1186F 3556C>T UCEC-US 2 61415350 61415350 single base substitution G A missense_variant L3510F 10528C>T UCEC-US 2 61415350 61415350 single base substitution G A missense_variant L388F 1162C>T UCEC-US 2 61415609 61415609 single base substitution A C downstream_gene_variant UCEC-US 2 61415609 61415609 single base substitution A C exon_variant UCEC-US 2 61415609 61415609 single base substitution A C missense_variant F1099L 3297T>G UCEC-US 2 61415609 61415609 single base substitution A C missense_variant F301L 903T>G UCEC-US 2 61415609 61415609 single base substitution A C missense_variant F3423L 10269T>G UCEC-US 2 61415788 61415788 single base substitution T C downstream_gene_variant UCEC-US 2 61415788 61415788 single base substitution T C exon_variant UCEC-US 2 61415788 61415788 single base substitution T C missense_variant T1040A 3118A>G UCEC-US 2 61415788 61415788 single base substitution T C missense_variant T242A 724A>G UCEC-US 2 61415788 61415788 single base substitution T C missense_variant T3364A 10090A>G UCEC-US 2 61415811 61415811 single base substitution C T downstream_gene_variant UCEC-US 2 61415811 61415811 single base substitution C T exon_variant UCEC-US 2 61415811 61415811 single base substitution C T missense_variant R1032H 3095G>A UCEC-US 2 61415811 61415811 single base substitution C T missense_variant R234H 701G>A UCEC-US 2 61415811 61415811 single base substitution C T missense_variant R3356H 10067G>A UCEC-US 2 61417721 61417721 single base substitution G T downstream_gene_variant UCEC-US 2 61417721 61417721 single base substitution G T exon_variant UCEC-US 2 61417721 61417721 single base substitution G T missense_variant L3221I 9661C>A UCEC-US 2 61417721 61417721 single base substitution G T missense_variant L897I 2689C>A UCEC-US 2 61417721 61417721 single base substitution G T missense_variant L99I 295C>A UCEC-US 2 61417721 61417721 single base substitution G T upstream_gene_variant UCEC-US 2 61417742 61417742 single base substitution C T downstream_gene_variant UCEC-US 2 61417742 61417742 single base substitution C T exon_variant UCEC-US 2 61417742 61417742 single base substitution C T missense_variant A3214T 9640G>A UCEC-US 2 61417742 61417742 single base substitution C T missense_variant A890T 2668G>A UCEC-US 2 61417742 61417742 single base substitution C T missense_variant A92T 274G>A UCEC-US 2 61417742 61417742 single base substitution C T upstream_gene_variant UCEC-US 2 61417789 61417789 single base substitution G A exon_variant UCEC-US 2 61417789 61417789 single base substitution G A missense_variant A3198V 9593C>T UCEC-US 2 61417789 61417789 single base substitution G A missense_variant A76V 227C>T UCEC-US 2 61417789 61417789 single base substitution G A missense_variant A874V 2621C>T UCEC-US 2 61417789 61417789 single base substitution G A upstream_gene_variant UCEC-US 2 61431422 61431422 single base substitution C T downstream_gene_variant UCEC-US 2 61431422 61431422 single base substitution C T exon_variant UCEC-US 2 61431422 61431422 single base substitution C T intron_variant UCEC-US 2 61431422 61431422 single base substitution C T missense_variant C15Y 44G>A UCEC-US 2 61431422 61431422 single base substitution C T missense_variant C3118Y 9353G>A UCEC-US 2 61431442 61431442 single base substitution C T downstream_gene_variant UCEC-US 2 61431442 61431442 single base substitution C T exon_variant UCEC-US 2 61431442 61431442 single base substitution C T intron_variant UCEC-US 2 61431442 61431442 single base substitution C T synonymous_variant P3111P 9333G>A UCEC-US 2 61431442 61431442 single base substitution C T synonymous_variant P8P 24G>A UCEC-US 2 61433186 61433186 single base substitution G A downstream_gene_variant UCEC-US 2 61433186 61433186 single base substitution G A exon_variant UCEC-US 2 61433186 61433186 single base substitution G A synonymous_variant S3040S 9120C>T UCEC-US 2 61433186 61433186 single base substitution G A synonymous_variant S799S 2397C>T UCEC-US 2 61433186 61433186 single base substitution G A upstream_gene_variant UCEC-US 2 61436070 61436072 deletion of <=200bp AAG - exon_variant UCEC-US 2 61436070 61436072 deletion of <=200bp AAG - inframe_deletion L2961 UCEC-US 2 61436070 61436072 deletion of <=200bp AAG - inframe_deletion L720 UCEC-US 2 61436070 61436072 deletion of <=200bp AAG - upstream_gene_variant UCEC-US 2 61441455 61441455 single base substitution C A downstream_gene_variant UCEC-US 2 61441455 61441455 single base substitution C A intron_variant UCEC-US 2 61441455 61441455 single base substitution C A missense_variant V2808F 8422G>T UCEC-US 2 61441455 61441455 single base substitution C A missense_variant V567F 1699G>T UCEC-US 2 61441705 61441705 single base substitution T C downstream_gene_variant UCEC-US 2 61441705 61441705 single base substitution T C intron_variant UCEC-US 2 61441705 61441705 single base substitution T C synonymous_variant L2724L 8172A>G UCEC-US 2 61441705 61441705 single base substitution T C synonymous_variant L483L 1449A>G UCEC-US 2 61447508 61447508 single base substitution G A downstream_gene_variant UCEC-US 2 61447508 61447508 single base substitution G A exon_variant UCEC-US 2 61447508 61447508 single base substitution G A stop_gained Q2662* 7984C>T UCEC-US 2 61447508 61447508 single base substitution G A stop_gained Q421* 1261C>T UCEC-US 2 61447508 61447508 single base substitution G A upstream_gene_variant UCEC-US 2 61448675 61448675 single base substitution G A downstream_gene_variant UCEC-US 2 61448675 61448675 single base substitution G A exon_variant UCEC-US 2 61448675 61448675 single base substitution G A missense_variant P2621S 7861C>T UCEC-US 2 61448675 61448675 single base substitution G A missense_variant P380S 1138C>T UCEC-US 2 61448675 61448675 single base substitution G A upstream_gene_variant UCEC-US 2 61455834 61455834 single base substitution C T exon_variant UCEC-US 2 61455834 61455834 single base substitution C T intron_variant UCEC-US 2 61455834 61455834 single base substitution C T synonymous_variant L222L 666G>A UCEC-US 2 61455834 61455834 single base substitution C T synonymous_variant L2463L 7389G>A UCEC-US 2 61455834 61455834 single base substitution C T synonymous_variant L741L 2223G>A UCEC-US 2 61456737 61456737 single base substitution T G exon_variant UCEC-US 2 61456737 61456737 single base substitution T G intron_variant UCEC-US 2 61456737 61456737 single base substitution T G missense_variant Q141P 422A>C UCEC-US 2 61456737 61456737 single base substitution T G missense_variant Q2382P 7145A>C UCEC-US 2 61456737 61456737 single base substitution T G missense_variant Q660P 1979A>C UCEC-US 2 61459655 61459655 single base substitution G A exon_variant UCEC-US 2 61459655 61459655 single base substitution G A intron_variant UCEC-US 2 61459655 61459655 single base substitution G A missense_variant R108C 322C>T UCEC-US 2 61459655 61459655 single base substitution G A missense_variant R2349C 7045C>T UCEC-US 2 61459655 61459655 single base substitution G A missense_variant R627C 1879C>T UCEC-US 2 61468730 61468730 single base substitution C T exon_variant UCEC-US 2 61468730 61468730 single base substitution C T intron_variant UCEC-US 2 61468730 61468730 single base substitution C T missense_variant E2248K 6742G>A UCEC-US 2 61468730 61468730 single base substitution C T missense_variant E526K 1576G>A UCEC-US 2 61468730 61468730 single base substitution C T missense_variant E7K 19G>A UCEC-US 2 61468760 61468760 single base substitution G A exon_variant UCEC-US 2 61468760 61468760 single base substitution G A intron_variant UCEC-US 2 61468760 61468760 single base substitution G A missense_variant R2238C 6712C>T UCEC-US 2 61468760 61468760 single base substitution G A missense_variant R516C 1546C>T UCEC-US 2 61468760 61468760 single base substitution G A upstream_gene_variant UCEC-US 2 61475811 61475811 single base substitution A G exon_variant UCEC-US 2 61475811 61475811 single base substitution A G intron_variant UCEC-US 2 61475811 61475811 single base substitution A G missense_variant F2077L 6229T>C UCEC-US 2 61475811 61475811 single base substitution A G missense_variant F355L 1063T>C UCEC-US 2 61484030 61484030 single base substitution A G intron_variant UCEC-US 2 61484030 61484030 single base substitution A G missense_variant V2035A 6104T>C UCEC-US 2 61484030 61484030 single base substitution A G missense_variant V313A 938T>C UCEC-US 2 61484030 61484030 single base substitution A G upstream_gene_variant UCEC-US 2 61484360 61484360 single base substitution G A intron_variant UCEC-US 2 61484360 61484360 single base substitution G A synonymous_variant I1990I 5970C>T UCEC-US 2 61484360 61484360 single base substitution G A synonymous_variant I268I 804C>T UCEC-US 2 61484360 61484360 single base substitution G A upstream_gene_variant UCEC-US 2 61486889 61486889 single base substitution T G intron_variant UCEC-US 2 61486889 61486889 single base substitution T G missense_variant K1934T 5801A>C UCEC-US 2 61486889 61486889 single base substitution T G missense_variant K212T 635A>C UCEC-US 2 61486889 61486889 single base substitution T G upstream_gene_variant UCEC-US 2 61492625 61492625 single base substitution G A downstream_gene_variant UCEC-US 2 61492625 61492625 single base substitution G A exon_variant UCEC-US 2 61492625 61492625 single base substitution G A intron_variant UCEC-US 2 61492625 61492625 single base substitution G A synonymous_variant G173G 519C>T UCEC-US 2 61492625 61492625 single base substitution G A synonymous_variant G1895G 5685C>T UCEC-US 2 61492647 61492647 single base substitution C T downstream_gene_variant UCEC-US 2 61492647 61492647 single base substitution C T exon_variant UCEC-US 2 61492647 61492647 single base substitution C T intron_variant UCEC-US 2 61492647 61492647 single base substitution C T missense_variant R166H 497G>A UCEC-US 2 61492647 61492647 single base substitution C T missense_variant R1888H 5663G>A UCEC-US 2 61493220 61493220 single base substitution G T exon_variant UCEC-US 2 61493220 61493220 single base substitution G T intron_variant UCEC-US 2 61493220 61493220 single base substitution G T missense_variant S117Y 350C>A UCEC-US 2 61493220 61493220 single base substitution G T missense_variant S1839Y 5516C>A UCEC-US 2 61493220 61493220 single base substitution G T upstream_gene_variant UCEC-US 2 61510304 61510304 single base substitution C A intron_variant UCEC-US 2 61510304 61510304 single base substitution C A missense_variant K1658N 4974G>T UCEC-US 2 61510304 61510304 single base substitution C A upstream_gene_variant UCEC-US 2 61512020 61512020 single base substitution G A intron_variant UCEC-US 2 61512020 61512020 single base substitution G A synonymous_variant L1608L 4822C>T UCEC-US 2 61512020 61512020 single base substitution G A upstream_gene_variant UCEC-US 2 61515949 61515949 single base substitution C T intron_variant UCEC-US 2 61515949 61515949 single base substitution C T missense_variant D1538N 4612G>A UCEC-US 2 61528259 61528259 single base substitution G A missense_variant R1319W 3955C>T UCEC-US 2 61528259 61528259 single base substitution G A upstream_gene_variant UCEC-US 2 61538750 61538750 single base substitution A C missense_variant L1248V 3742T>G UCEC-US 2 61538990 61538990 single base substitution A G synonymous_variant L1200L 3598T>C UCEC-US 2 61541783 61541783 single base substitution C A missense_variant S1160I 3479G>T UCEC-US 2 61541830 61541830 single base substitution C T synonymous_variant E1144E 3432G>A UCEC-US 2 61541871 61541871 single base substitution C A missense_variant G1131C 3391G>T UCEC-US 2 61542018 61542018 single base substitution T C missense_variant Y1125C 3374A>G UCEC-US 2 61544830 61544830 single base substitution G C missense_variant R1081G 3241C>G UCEC-US 2 61546451 61546451 single base substitution C A stop_gained E1009* 3025G>T UCEC-US 2 61558426 61558426 single base substitution C T missense_variant R972K 2915G>A UCEC-US 2 61558470 61558470 single base substitution G T missense_variant F957L 2871C>A UCEC-US 2 61561087 61561087 single base substitution G A missense_variant R922C 2764C>T UCEC-US 2 61566564 61566564 single base substitution G A downstream_gene_variant UCEC-US 2 61566564 61566564 single base substitution G A missense_variant S889L 2666C>T UCEC-US 2 61566712 61566712 single base substitution C A exon_variant UCEC-US 2 61566712 61566712 single base substitution C A missense_variant D869Y 2605G>T UCEC-US 2 61575116 61575116 single base substitution C T downstream_gene_variant UCEC-US 2 61575116 61575116 single base substitution C T exon_variant UCEC-US 2 61575116 61575116 single base substitution C T missense_variant R725Q 2174G>A UCEC-US 2 61575161 61575161 single base substitution T G downstream_gene_variant UCEC-US 2 61575161 61575161 single base substitution T G exon_variant UCEC-US 2 61575161 61575161 single base substitution T G missense_variant N710T 2129A>C UCEC-US 2 61575221 61575221 single base substitution C T downstream_gene_variant UCEC-US 2 61575221 61575221 single base substitution C T missense_variant R690Q 2069G>A UCEC-US 2 61575221 61575221 single base substitution C T upstream_gene_variant UCEC-US 2 61575499 61575499 single base substitution G A 3_prime_UTR_variant UCEC-US 2 61575499 61575499 single base substitution G A synonymous_variant H597H 1791C>T UCEC-US 2 61575499 61575499 single base substitution G A upstream_gene_variant UCEC-US 2 61575591 61575591 single base substitution C T 3_prime_UTR_variant UCEC-US 2 61575591 61575591 single base substitution C T missense_variant E567K 1699G>A UCEC-US 2 61575591 61575591 single base substitution C T upstream_gene_variant UCEC-US 2 61597701 61597701 single base substitution C A 3_prime_UTR_variant UCEC-US 2 61597701 61597701 single base substitution C A stop_gained E364* 1090G>T UCEC-US 2 61607465 61607465 single base substitution G A 3_prime_UTR_variant UCEC-US 2 61607465 61607465 single base substitution G A stop_gained R285* 853C>T UCEC-US 2 61622010 61622010 single base substitution G A 3_prime_UTR_variant UCEC-US 2 61622010 61622010 single base substitution G A missense_variant A244V 731C>T UCEC-US 2 61632903 61632903 single base substitution A C intron_variant UCEC-US 2 61632903 61632903 single base substitution A C missense_variant I164M 492T>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC1395 COSM50641 c.1870G>C p.D624H Substitution - Missense 2:61348285-61348285 - 8016486 COSM1159301 c.6824T>G p.F2275C Substitution - Missense 2:61236343-61236343 - TCGA-D8-A27V-01 COSM3839767 c.5742G>A p.M1914I Substitution - Missense 2:61265433-61265433 - TCGA-BR-8361-01 COSM4095050 c.4665C>T p.S1555S Substitution - coding silent 2:61288761-61288761 - 05-P8068 COSM4583582 c.9928C>T p.P3310S Substitution - Missense 2:61189015-61189015 - SC_9008 COSM5564149 c.3320G>T p.R1107I Substitution - Missense 2:61314937-61314937 - HCC2998 COSM1668963 c.9405T>G p.D3135E Substitution - Missense 2:61203243-61203243 - BD110T COSM5514127 c.2363A>G p.N788S Substitution - Missense 2:61343952-61343952 - TCGA-37-5819-01 COSM722149 c.4454G>T p.S1485I Substitution - Missense 2:61294956-61294956 - PD13306a COSM5783490 c.9750T>C p.S3250S Substitution - coding silent 2:61190394-61190394 - TCGA-EE-A2MR-06 COSM3582489 c.8318C>T p.S2773F Substitution - Missense 2:61214424-61214424 - TCGA-23-1124-01 COSM81896 c.4299C>T p.S1433S Substitution - coding silent 2:61295246-61295246 - 2250168 COSM5030664 c.2611_2612insATGC p.V873fs*3 Insertion - Frameshift 2:61339570-61339571 - TCGA-CW-5581-01 COSM477539 c.7620C>A p.D2540E Substitution - Missense 2:61223272-61223272 - TCGA-D1-A174-01 COSM1022081 c.5663G>A p.R1888H Substitution - Missense 2:61265512-61265512 - YUROG COSM5397203 c.2911G>A p.G971R Substitution - Missense 2:61331295-61331295 - PD4937a COSM165444 c.600G>A p.M200I Substitution - Missense 2:61395186-61395186 - TCGA-B5-A0JY-01 COSM1022097 c.2605G>T p.D869Y Substitution - Missense 2:61339577-61339577 - 71 COSM5014228 c.6311A>G p.N2104S Substitution - Missense 2:61248594-61248594 - 2492700 COSM5600831 c.1927C>T p.R643W Substitution - Missense 2:61348228-61348228 - T55 COSM4739773 c.8594C>T p.S2865F Substitution - Missense 2:61214148-61214148 - SNUH_G76_S1 COSM4417537 c.2694A>G p.Q898Q Substitution - coding silent 2:61339401-61339401 - TCGA-B0-4712-01 COSM477540 c.7407G>T p.M2469I Substitution - Missense 2:61228681-61228681 - 394 COSM3724114 c.4135C>G p.R1379G Substitution - Missense 2:61296919-61296919 - TCGA-BS-A0TC-01 COSM1022088 c.3598T>C p.L1200L Substitution - coding silent 2:61311855-61311855 - TCGA-BR-4363-01 COSM3054313 c.9936A>G p.L3312L Substitution - coding silent 2:61189007-61189007 - ESCC_51 COSM5631029 c.1688G>A p.G563E Substitution - Missense 2:61348467-61348467 - PT48 COSM5931182 c.9281C>T p.P3094L Substitution - Missense 2:61204359-61204359 - ESCC_BICR_003T COSM5442707 c.231C>G p.L77L Substitution - coding silent 2:61406029-61406029 - TCGA-CJ-5684-01 COSM477541 c.5478T>C p.S1826S Substitution - coding silent 2:61266123-61266123 - ESO-866 COSM1270081 c.8749G>T p.E2917* Substitution - Nonsense 2:61211863-61211863 - STC263 COSM5058984 c.3267T>C p.G1089G Substitution - coding silent 2:61317669-61317669 - 16-RS COSM1731976 c.10591A>G p.I3531V Substitution - Missense 2:61188152-61188152 - T407 COSM4739774 c.7945C>T p.Q2649* Substitution - Nonsense 2:61220412-61220412 - TCGA-JL-A3YW-01 COSM3839772 c.822G>T p.R274S Substitution - Missense 2:61380361-61380361 - CSCC-15-T COSM4567407 c.700_701CC>GT p.P234V Substitution - Missense 2:61394905-61394906 - P06-1696 COSM248246 c.5536G>T p.D1846Y Substitution - Missense 2:61266065-61266065 - CPCG_0001_Pr_P_F0 COSM3396488 c.9057A>T p.Q3019H Substitution - Missense 2:61206114-61206114 - SNU-175 COSM3054304 c.10063C>T p.R3355W Substitution - Missense 2:61188680-61188680 - TCGA-AZ-4315-01 COSM1408872 c.2104G>A p.E702K Substitution - Missense 2:61348051-61348051 - T3174 COSM4739777 c.5364A>G p.T1788T Substitution - coding silent 2:61278234-61278234 - NPCPR30 COSM4996245 c.5131C>T p.Q1711* Substitution - Nonsense 2:61281110-61281110 - Gp5D COSM3054429 c.4263T>C p.D1421D Substitution - coding silent 2:61295282-61295282 - 970010 COSM1582539 c.10480C>T p.Q3494* Substitution - Nonsense 2:61188263-61188263 - S0083 COSM5883481 c.9835C>T p.R3279* Substitution - Nonsense 2:61190309-61190309 - LUAD-S01345 COSM397205 c.4423G>A p.D1475N Substitution - Missense 2:61294987-61294987 - T3080 COSM4739782 c.4157A>G p.H1386R Substitution - Missense 2:61296897-61296897 - CN-AML-NR-08-Dx COSM4001720 c.1467A>G p.A489A Substitution - coding silent 2:61350300-61350300 - sysucc-325T COSM5461249 c.1544-1G>T p.? Unknown 2:61348887-61348887 - TCGA-AR-A250-01 COSM1483179 c.6507C>T p.I2169I Substitution - coding silent 2:61246365-61246365 - WA15 COSM242199 c.4744_4746delACA p.T1582delT Deletion - In frame 2:61288680-61288682 - TCGA-A7-A3RF-01 COSM3839766 c.6077A>G p.E2026G Substitution - Missense 2:61256922-61256922 - T578 COSM3054364 c.8004C>T p.V2668V Substitution - coding silent 2:61220353-61220353 - Pat_70_B COSM1193012 c.1378-3_1378-2insT p.? Unknown 2:61350391-61350392 - TCGA-A5-A0G9-01 COSM1022098 c.2575G>T p.G859* Substitution - Nonsense 2:61339607-61339607 - PD23563a COSM5794571 c.3678T>G p.I1226M Substitution - Missense 2:61311679-61311679 - TCGA-AG-A002-01 COSM264613 c.2623C>A p.L875I Substitution - Missense 2:61339472-61339472 - KM12 COSM3054454 c.3039C>T p.I1013I Substitution - coding silent 2:61319302-61319302 - TCGA-EE-A2MQ-06 COSM3582492 c.7471G>A p.E2491K Substitution - Missense 2:61227191-61227191 - CLL064 COSM1291524 c.4559A>T p.D1520V Substitution - Missense 2:61288867-61288867 - TCGA-B5-A0K9-01 COSM1022105 c.791A>G p.H264R Substitution - Missense 2:61383299-61383299 - LP6005334-DNA_B02 COSM5035377 c.9729+5G>A p.? Unknown 2:61190513-61190513 - BD6T COSM5498788 c.132-10delT p.? Unknown 2:61406138-61406138 - PD24221a COSM5787396 c.8919+2T>C p.? Unknown 2:61208897-61208897 - TCGA-BT-A2LA-01 COSM1306916 c.595G>T p.D199Y Substitution - Missense 2:61395191-61395191 - TCGA-AP-A056-01 COSM1022073 c.6742G>A p.E2248K Substitution - Missense 2:61241595-61241595 - TCGA-F1-A448-01 COSM1408859 c.7673G>A p.R2558H Substitution - Missense 2:61223136-61223136 - TCGA-F5-6814-01 COSM3426576 c.7809C>A p.F2603L Substitution - Missense 2:61221592-61221592 - TCGA-ED-A66Y-01 COSM4926476 c.9385-2A>C p.? Unknown 2:61203265-61203265 - HCT15 COSM3054492 c.821G>T p.R274M Substitution - Missense 2:61383269-61383269 - CHC1603T COSM4801867 c.336T>A p.N112K Substitution - Missense 2:61405924-61405924 - TCGA-HU-8249-01 COSM4095057 c.994G>A p.A332T Substitution - Missense 2:61380189-61380189 - 0066_CRUK_PC_0066_T1_DNA COSM5421282 c.3203C>G p.T1068S Substitution - Missense 2:61317733-61317733 - TCGA-AA-3713-01 COSM1408879 c.754A>T p.I252F Substitution - Missense 2:61383336-61383336 - TCGA-EE-A2A5-06 COSM3582485 c.10238A>T p.K3413I Substitution - Missense 2:61188505-61188505 - PA285 COSM1163256 c.10242A>G p.E3414E Substitution - coding silent 2:61188501-61188501 - PD4116a COSM219500 c.7955G>A p.R2652Q Substitution - Missense 2:61220402-61220402 - TCGA-BR-4184-01 COSM4095041 c.8008C>T p.R2670W Substitution - Missense 2:61220349-61220349 - HCC061T COSM5805567 c.5151+3A>T p.? Unknown 2:61281087-61281087 - CN-AML-08-T COSM4001720 c.1467A>G p.A489A Substitution - coding silent 2:61350300-61350300 - PT49 COSM5934675 c.5620C>T p.H1874Y Substitution - Missense 2:61265555-61265555 - CHC2052T COSM4789914 c.2420A>G p.N807S Substitution - Missense 2:61343895-61343895 - RK308_C01 COSM3743853 c.7587A>G p.R2529R Substitution - coding silent 2:61227075-61227075 - TCGA-AX-A0J0-01 COSM1022107 c.492T>G p.I164M Substitution - Missense 2:61405768-61405768 - 2492708 COSM5717019 c.5876C>T p.P1959L Substitution - Missense 2:61257319-61257319 - TCGA-GV-A3QG-01 COSM1306914 c.2506G>A p.V836I Substitution - Missense 2:61339676-61339676 - 4-RSII COSM1731719 c.5320A>G p.I1774V Substitution - Missense 2:61278278-61278278 - PD4116a COSM219500 c.7955G>A p.R2652Q Substitution - Missense 2:61220402-61220402 - HCC128T COSM3962965 c.4117G>A p.D1373N Substitution - Missense 2:61300962-61300962 - NPC7D COSM4996244 c.9418G>A p.D3140N Substitution - Missense 2:61203230-61203230 - H2009 COSM1193878 c.2413C>G p.Q805E Substitution - Missense 2:61343902-61343902 - TCGA-EI-6917-01 COSM3426577 c.2959C>T p.R987C Substitution - Missense 2:61325429-61325429 - SS6003314 COSM4019685 c.44-3C>T p.? Unknown 2:61420836-61420836 - CT-TC COSM4583582 c.9928C>T p.P3310S Substitution - Missense 2:61189015-61189015 - 19M COSM5579957 c.9G>C p.E3D Substitution - Missense 2:61470684-61470684 - HCC4T COSM1615011 c.553-7delT p.? Unknown 2:61395240-61395240 - OSCC-GB_01050111 COSM4889821 c.5155G>C p.D1719H Substitution - Missense 2:61280345-61280345 - TCGA-AR-A0TX-01 COSM443074 c.6764C>T p.S2255L Substitution - Missense 2:61241573-61241573 - PTC-7C COSM3054490 c.1118A>G p.N373S Substitution - Missense 2:61370538-61370538 - TCGA-24-0980-01 COSM81895 c.6282T>C p.N2094N Substitution - coding silent 2:61248623-61248623 - TCGA-BL-A0C8-01 COSM419133 c.853C>T p.R285* Substitution - Nonsense 2:61380330-61380330 - BCM543T COSM4955390 c.3334G>T p.D1112Y Substitution - Missense 2:61314923-61314923 - TCGA-BP-4963-01 COSM477543 c.2520T>C p.H840H Substitution - coding silent 2:61339662-61339662 - BN24 COSM1615009 c.7904T>G p.I2635S Substitution - Missense 2:61220453-61220453 - T2269 COSM4739779 c.4498A>T p.I1500F Substitution - Missense 2:61293514-61293514 - TCGA-34-2600-01 COSM722137 c.595G>A p.D199N Substitution - Missense 2:61395191-61395191 - SNUH_G40_S1 COSM3682663 c.8019G>T p.L2673F Substitution - Missense 2:61220338-61220338 - HCC2998 COSM1668966 c.7970A>G p.H2657R Substitution - Missense 2:61220387-61220387 - 112557 COSM96266 c.2394A>T p.G798G Substitution - coding silent 2:61343921-61343921 - TCGA-CZ-5468-01 COSM477538 c.9319A>G p.N3107D Substitution - Missense 2:61204321-61204321 - HCC142T COSM1615007 c.10232_10233delCT p.S3411fs*2 Deletion - Frameshift 2:61188510-61188511 - 587376 COSM1232039 c.8896C>T p.R2966* Substitution - Nonsense 2:61208922-61208922 - TCGA-24-1844-01 COSM1327021 c.10516C>T p.H3506Y Substitution - Missense 2:61188227-61188227 - CSCC-31-T COSM4506825 c.7301C>T p.P2434L Substitution - Missense 2:61228894-61228894 - TCGA-E2-A15D-01 COSM443080 c.718C>A p.L240I Substitution - Missense 2:61394888-61394888 - HCC80T COSM3659915 c.1954G>A p.G652S Substitution - Missense 2:61348201-61348201 - TCGA-EB-A3Y7-01 COSM3582493 c.6761C>T p.S2254L Substitution - Missense 2:61241576-61241576 - pfg054T COSM4756284 c.1651C>A p.Q551K Substitution - Missense 2:61348779-61348779 - TCGA-AA-A010-01 COSM286399 c.10335C>T p.D3445D Substitution - coding silent 2:61188408-61188408 - ESCC_BICR_044T COSM5439930 c.9365C>A p.T3122K Substitution - Missense 2:61204275-61204275 - BD175T COSM5507732 c.7602G>C p.L2534F Substitution - Missense 2:61223290-61223290 - COLO205 COSM3054441 c.3603A>T p.K1201N Substitution - Missense 2:61311850-61311850 - CSCC-16-T COSM4500572 c.5695C>T p.L1899F Substitution - Missense 2:61265480-61265480 - HDC87 COSM4637077 c.7757C>T p.S2586F Substitution - Missense 2:61222656-61222656 - TCGA-BC-A10T-01 COSM4922962 c.10435G>C p.D3479H Substitution - Missense 2:61188308-61188308 - TCGA-BR-4184-01 COSM1232035 c.1207C>T p.R403* Substitution - Nonsense 2:61370365-61370365 - TCGA-AC-A3YJ-01 COSM3839764 c.6561T>A p.N2187K Substitution - Missense 2:61245276-61245276 - Pat_44_B COSM5862678 c.5536G>A p.D1846N Substitution - Missense 2:61266065-61266065 - ESCC-078T COSM3939126 c.3438T>C p.L1146L Substitution - coding silent 2:61314689-61314689 - CSCC-31-T COSM4511901 c.8847C>T p.F2949F Substitution - coding silent 2:61208971-61208971 - 226 COSM3730108 c.2501-9_2501-8insT p.? Unknown 2:61339689-61339690 - TCGA-BP-4165-01 COSM3364781 c.7500T>G p.D2500E Substitution - Missense 2:61227162-61227162 - TCGA-AP-A059-01 COSM1022084 c.4822C>T p.L1608L Substitution - coding silent 2:61284885-61284885 - H1703 COSM1196611 c.5257A>G p.T1753A Substitution - Missense 2:61278443-61278443 - TCGA-D9-A149-06 COSM3582496 c.4772G>A p.G1591E Substitution - Missense 2:61284935-61284935 - 16 COSM3735576 c.9886C>A p.L3296I Substitution - Missense 2:61189057-61189057 - S02274 COSM5682487 c.5283G>T p.L1761F Substitution - Missense 2:61278417-61278417 - 254891 COSM3724607 c.471C>G p.L157L Substitution - coding silent 2:61405789-61405789 - ESCC_BICR_036T COSM5432165 c.7701T>C p.C2567C Substitution - coding silent 2:61223108-61223108 - B37 COSM1757052 c.8908C>T p.L2970L Substitution - coding silent 2:61208910-61208910 - B105-0-Tumor COSM1757056 c.1626A>C p.Q542H Substitution - Missense 2:61348804-61348804 - 2318491 COSM4776642 c.6301G>C p.E2101Q Substitution - Missense 2:61248604-61248604 - TCGA-BR-8078-01 COSM4095054 c.2225G>A p.R742Q Substitution - Missense 2:61347930-61347930 - 409 COSM4430736 c.2371G>A p.D791N Substitution - Missense 2:61343944-61343944 - 452 COSM4435864 c.5911C>A p.L1971M Substitution - Missense 2:61257284-61257284 - S02350 COSM5694769 c.9882G>T p.R3294S Substitution - Missense 2:61189061-61189061 - TCGA-CA-6717-01 COSM3695559 c.5465T>G p.F1822C Substitution - Missense 2:61266136-61266136 - T12 COSM242201 c.262A>G p.I88V Substitution - Missense 2:61405998-61405998 - TCGA-BS-A0TG-01 COSM1022078 c.5895C>T p.T1965T Substitution - coding silent 2:61257300-61257300 - pfg120T COSM4747352 c.9692_9694delACA p.N3231delN Deletion - In frame 2:61190553-61190555 - TCGA-BR-8683-01 COSM4095046 c.5504G>T p.C1835F Substitution - Missense 2:61266097-61266097 - RK125_C01 COSM3702207 c.3450T>G p.S1150S Substitution - coding silent 2:61314677-61314677 - 8014573 COSM3391803 c.9431C>T p.S3144F Substitution - Missense 2:61203217-61203217 - TCGA-18-3414-01 COSM722157 c.7107G>A p.V2369V Substitution - coding silent 2:61232458-61232458 - TCGA-AP-A051-01 COSM419133 c.853C>T p.R285* Substitution - Nonsense 2:61380330-61380330 - TCGA-D8-A1X7-01 COSM1483178 c.6700C>T p.L2234L Substitution - coding silent 2:61241637-61241637 - pfg181T COSM4756283 c.1726A>C p.S576R Substitution - Missense 2:61348429-61348429 - TCGA-DM-A1D7-01 COSM1408857 c.8271C>G p.S2757R Substitution - Missense 2:61214471-61214471 - 1N55-VS-1T55 COSM4977089 c.9332C>T p.P3111L Substitution - Missense 2:61204308-61204308 - TCGA-B0-4718-01 COSM3364780 c.8170C>T p.L2724L Substitution - coding silent 2:61214572-61214572 - B22-Tumor COSM1757055 c.3399G>A p.E1133E Substitution - coding silent 2:61314728-61314728 - TCGA-E9-A3Q9-01 COSM5834478 c.562_563delAC p.T188fs*4 Deletion - Frameshift 2:61395223-61395224 - RK023_C01 COSM1632070 c.7437T>G p.P2479P Substitution - coding silent 2:61228651-61228651 - CHC736T COSM4950380 c.2521delC p.Q841fs*26 Deletion - Frameshift 2:61339661-61339661 - Pat_41_B COSM5862679 c.4185G>A p.W1395* Substitution - Nonsense 2:61296869-61296869 - TCGA-G4-6628-01 COSM1408876 c.1187A>T p.N396I Substitution - Missense 2:61370385-61370385 - Gp2D COSM4628089 c.5009G>A p.R1670H Substitution - Missense 2:61281232-61281232 - TCGA-AX-A0J0-01 COSM1022096 c.2871C>A p.F957L Substitution - Missense 2:61331335-61331335 - Au3 COSM5602582 c.8467C>T p.P2823S Substitution - Missense 2:61214275-61214275 - TCGA-BR-4361-01 COSM4095042 c.7381C>T p.L2461F Substitution - Missense 2:61228707-61228707 - TCGA-B5-A11E-01 COSM1022106 c.731C>T p.A244V Substitution - Missense 2:61394875-61394875 - 587316 COSM1232036 c.2063G>A p.R688Q Substitution - Missense 2:61348092-61348092 - 203T COSM1726679 c.554A>T p.D185V Substitution - Missense 2:61395232-61395232 - ESCC_72 COSM5634324 c.10331A>G p.Y3444C Substitution - Missense 2:61188412-61188412 - TCGA-BH-A1EY-01 COSM1483181 c.2185T>C p.F729L Substitution - Missense 2:61347970-61347970 - pfg017T COSM1641942 c.7033-6delT p.? Unknown 2:61232538-61232538 - TCGA-C5-A7UH-01 COSM4856810 c.56A>G p.E19G Substitution - Missense 2:61420821-61420821 - CSCC-1-T COSM4450614 c.7213delG p.D2405fs*4 Deletion - Frameshift 2:61228982-61228982 - TCGA-BR-8081-01 COSM4095037 c.9009G>A p.S3003S Substitution - coding silent 2:61206797-61206797 - TCGA-66-2766-01 COSM722160 c.8706G>T p.L2902L Substitution - coding silent 2:61211906-61211906 - CHC2103T COSM4952613 c.2693A>T p.Q898L Substitution - Missense 2:61339402-61339402 - ESCC_136 COSM5643032 c.7480G>C p.E2494Q Substitution - Missense 2:61227182-61227182 - TCGA-AX-A0J0-01 COSM1022055 c.10269T>G p.F3423L Substitution - Missense 2:61188474-61188474 - TCGA-AN-A046-01 COSM3839771 c.1503G>T p.K501N Substitution - Missense 2:61350264-61350264 - TCGA-60-2698-01 COSM722144 c.2764C>T p.R922C Substitution - Missense 2:61333952-61333952 - DN120FF COSM5770400 c.105T>G p.F35L Substitution - Missense 2:61420772-61420772 - P126 COSM1735950 c.8609_8611delGAC p.R2870delR Deletion - In frame 2:61214131-61214133 - TCGA-BR-8361-01 COSM4095047 c.5104A>G p.T1702A Substitution - Missense 2:61281137-61281137 - 4760_PT COSM5756084 c.3890T>G p.L1297R Substitution - Missense 2:61301382-61301382 - TCGA-G4-6628-01 COSM1408864 c.4472C>T p.A1491V Substitution - Missense 2:61293540-61293540 - TCGA-66-2794-01 COSM722152 c.4945G>C p.D1649H Substitution - Missense 2:61283198-61283198 - CCK81 COSM3054494 c.744T>C p.V248V Substitution - coding silent 2:61394862-61394862 - ZZUFHECRKL-G063T COSM1408882 c.111T>C p.Y37Y Substitution - coding silent 2:61420766-61420766 - CSCC-37-T COSM4454458 c.4971A>T p.L1657L Substitution - coding silent 2:61283172-61283172 - Gp5D COSM3054389 c.6516A>G p.I2172M Substitution - Missense 2:61246356-61246356 - HCT116 COSM3054378 c.7020G>T p.Q2340H Substitution - Missense 2:61235857-61235857 - 3N09-VS-3T09 COSM4979226 c.10336G>A p.D3446N Substitution - Missense 2:61188407-61188407 - TCGA-BP-4988-01 COSM477544 c.2444A>G p.H815R Substitution - Missense 2:61343871-61343871 - LS411 COSM3054458 c.2840C>T p.A947V Substitution - Missense 2:61331366-61331366 - SNUH_G45_S1 COSM1408882 c.111T>C p.Y37Y Substitution - coding silent 2:61420766-61420766 - TCGA-D1-A17Q-01 COSM1022054 c.10528C>T p.L3510F Substitution - Missense 2:61188215-61188215 - TCGA-A7-A0DA-01 COSM443078 c.4522C>G p.P1508A Substitution - Missense 2:61293490-61293490 - SNU-175 COSM3054490 c.1118A>G p.N373S Substitution - Missense 2:61370538-61370538 - TCGA-CW-5585-01 COSM477545 c.1962C>T p.C654C Substitution - coding silent 2:61348193-61348193 - TCGA-A4-7732-01 COSM3991384 c.7452T>G p.V2484V Substitution - coding silent 2:61227210-61227210 - ATL001 COSM5708277 c.3167A>C p.K1056T Substitution - Missense 2:61319174-61319174 - HX10T COSM1615008 c.10033+7T>G p.? Unknown 2:61188903-61188903 - TCGA-66-2795-01 COSM722139 c.1240G>T p.A414S Substitution - Missense 2:61370332-61370332 - TCGA-D9-A6EC-06 COSM4403014 c.10529T>G p.L3510R Substitution - Missense 2:61188214-61188214 - HCT15 COSM1668968 c.5488C>T p.R1830* Substitution - Nonsense 2:61266113-61266113 - YUPAER COSM1022103 c.1699G>A p.E567K Substitution - Missense 2:61348456-61348456 - TCGA-AZ-4315-01 COSM1022077 c.5970C>T p.I1990I Substitution - coding silent 2:61257225-61257225 - LUAD-VUMN6 COSM348021 c.7724G>C p.R2575P Substitution - Missense 2:61223085-61223085 - 107430 COSM95464 c.6583G>C p.D2195H Substitution - Missense 2:61245254-61245254 - 452 COSM4435865 c.1837G>A p.D613N Substitution - Missense 2:61348318-61348318 - SNUH_G16_S1 COSM4001719 c.2501-8C>T p.? Unknown 2:61339689-61339689 - C0010T COSM3054510 c.303A>G p.A101A Substitution - coding silent 2:61405957-61405957 - pfg019T COSM1641942 c.7033-6delT p.? Unknown 2:61232538-61232538 - BN49T COSM1615010 c.5257-8G>T p.? Unknown 2:61278451-61278451 - PCSI_0307_Pa_P_526 COSM3782220 c.7064G>A p.W2355* Substitution - Nonsense 2:61232501-61232501 - PD3890a COSM219164 c.9308G>C p.G3103A Substitution - Missense 2:61204332-61204332 - H838 COSM1193124 c.7304A>C p.H2435P Substitution - Missense 2:61228891-61228891 - 107532 COSM95467 c.807G>T p.R269S Substitution - Missense 2:61383283-61383283 - CHC1028T COSM4790825 c.10422T>A p.S3474S Substitution - coding silent 2:61188321-61188321 - TCGA-18-4083-01 COSM722154 c.6834A>G p.T2278T Substitution - coding silent 2:61236333-61236333 - TCGA-BH-A18G-01 COSM3839761 c.9164A>G p.K3055R Substitution - Missense 2:61204592-61204592 - HCT15 COSM3054296 c.10617C>T p.G3539G Substitution - coding silent 2:61188126-61188126 - ESO-117 COSM1270080 c.6C>G p.C2W Substitution - Missense 2:61470687-61470687 - 3844_T COSM3962964 c.9550C>A p.L3184M Substitution - Missense 2:61192939-61192939 - 3N38-VS-3T38 COSM4981373 c.700C>T p.P234S Substitution - Missense 2:61394906-61394906 - 587234 COSM1232037 c.1234A>G p.I412V Substitution - Missense 2:61370338-61370338 - 37M COSM5584237 c.7646G>A p.G2549E Substitution - Missense 2:61223163-61223163 - TCGA-AM-5821-01 COSM3695560 c.1524A>C p.R508S Substitution - Missense 2:61349269-61349269 - TCGA-EE-A2GR-06 COSM3582498 c.3847T>G p.S1283A Substitution - Missense 2:61301425-61301425 - HT115 COSM3054428 c.4300G>A p.A1434T Substitution - Missense 2:61295245-61295245 - TCGA-EE-A20C-06 COSM3582487 c.9926A>T p.N3309I Substitution - Missense 2:61189017-61189017 - TCGA-EL-A3GY-01 COSM3372832 c.9829T>C p.S3277P Substitution - Missense 2:61190315-61190315 - AOCS-166-1-2 COSM4141179 c.6222-2A>G p.? Unknown 2:61248685-61248685 - HCT8 COSM1668968 c.5488C>T p.R1830* Substitution - Nonsense 2:61266113-61266113 - LUAD-CHTN-MAD06-00668 COSM359446 c.2631A>T p.E877D Substitution - Missense 2:61339464-61339464 - S02295 COSM5689206 c.3849A>G p.S1283S Substitution - coding silent 2:61301423-61301423 - TCGA-BS-A0UV-01 COSM1022102 c.1791C>T p.H597H Substitution - coding silent 2:61348364-61348364 - Pat_63_B COSM5862675 c.10061G>A p.R3354K Substitution - Missense 2:61188682-61188682 - TCGA-B5-A11E-01 COSM193419 c.2666C>T p.S889L Substitution - Missense 2:61339429-61339429 - TCGA-FD-A3SO-01 COSM3799098 c.560C>T p.S187L Substitution - Missense 2:61395226-61395226 - S00932 COSM316411 c.2756T>A p.I919N Substitution - Missense 2:61333960-61333960 - S02255 COSM5680698 c.2997A>G p.G999G Substitution - coding silent 2:61325391-61325391 - 9096_T COSM5040979 c.7231A>G p.I2411V Substitution - Missense 2:61228964-61228964 - I2L-P23-Tumor-Biopsy COSM5354425 c.2471C>T p.A824V Substitution - Missense 2:61343844-61343844 - UM-SCC-2 COSM3054473 c.1943A>G p.E648G Substitution - Missense 2:61348212-61348212 - TCGA-BR-4201-01 COSM4095035 c.10066C>T p.R3356C Substitution - Missense 2:61188677-61188677 - TCGA-AX-A0J0-01 COSM1022075 c.6229T>C p.F2077L Substitution - Missense 2:61248676-61248676 - B71-Tumor COSM1757054 c.3948G>C p.R1316S Substitution - Missense 2:61301131-61301131 - TCGA-DS-A0VM-01 COSM461004 c.5601G>A p.M1867I Substitution - Missense 2:61266000-61266000 - BN24T COSM1615009 c.7904T>G p.I2635S Substitution - Missense 2:61220453-61220453 - TCGA-AD-5900-01 COSM1408869 c.2470G>A p.A824T Substitution - Missense 2:61343845-61343845 - RK125_C01 COSM3702208 c.1232G>T p.C411F Substitution - Missense 2:61370340-61370340 - T3091 COSM722146 c.3133G>T p.G1045C Substitution - Missense 2:61319208-61319208 - 112785 COSM95462 c.10067G>C p.R3356P Substitution - Missense 2:61188676-61188676 - HCC151T COSM3659914 c.6670T>A p.S2224T Substitution - Missense 2:61241777-61241777 - TCGA-66-2744-01 COSM722159 c.8512C>A p.H2838N Substitution - Missense 2:61214230-61214230 - TCGA-BL-A0C8-01 COSM419134 c.10345G>C p.E3449Q Substitution - Missense 2:61188398-61188398 - TCGA-EB-A553-01 COSM3582493 c.6761C>T p.S2254L Substitution - Missense 2:61241576-61241576 - TCGA-EE-A180-06 COSM3582499 c.2448C>T p.L816L Substitution - coding silent 2:61343867-61343867 - SU-DHL-6 COSM221040 c.5511A>T p.S1837S Substitution - coding silent 2:61266090-61266090 - TCGA-B6-A0IP-01 COSM1408870 c.2363_2364insA p.N788fs*4 Insertion - Frameshift 2:61343951-61343952 - TCGA-AA-A00N-01 COSM278040 c.4066T>G p.L1356V Substitution - Missense 2:61301013-61301013 - 8014573 COSM3391804 c.6189T>A p.S2063S Substitution - coding silent 2:61256416-61256416 - TCGA-AD-6889-01 COSM1408865 c.4445_4446insA p.N1482fs*21 Insertion - Frameshift 2:61294964-61294965 - PD4939a COSM165445 c.5065G>C p.D1689H Substitution - Missense 2:61281176-61281176 - TCGA-A3-3374-01 COSM1494960 c.9858T>C p.S3286S Substitution - coding silent 2:61190286-61190286 - 2492703 COSM5600831 c.1927C>T p.R643W Substitution - Missense 2:61348228-61348228 - T97 COSM238408 c.6420A>G p.S2140S Substitution - coding silent 2:61246452-61246452 - CHC1603T COSM4801867 c.336T>A p.N112K Substitution - Missense 2:61405924-61405924 - DLD1 COSM4624838 c.10047A>G p.A3349A Substitution - coding silent 2:61188696-61188696 - ESCC-249T COSM3939124 c.9803A>C p.Q3268P Substitution - Missense 2:61190341-61190341 - TCGA-FU-A3WB-01 COSM4843882 c.5368C>A p.L1790I Substitution - Missense 2:61278230-61278230 - SNUH_G26_S1 COSM1408882 c.111T>C p.Y37Y Substitution - coding silent 2:61420766-61420766 - HCC126T COSM3659913 c.7282A>G p.M2428V Substitution - Missense 2:61228913-61228913 - TCGA-F5-6814-01 COSM3426574 c.10232C>A p.S3411Y Substitution - Missense 2:61188511-61188511 - TCGA-B8-5549-01 COSM477542 c.4406C>T p.S1469L Substitution - Missense 2:61295004-61295004 - TCGA-AX-A05Z-01 COSM1022068 c.8172A>G p.L2724L Substitution - coding silent 2:61214570-61214570 - TCGA-BR-4292-01 COSM4095040 c.8449C>T p.R2817C Substitution - Missense 2:61214293-61214293 - TCGA-AX-A05Z-01 COSM1022103 c.1699G>A p.E567K Substitution - Missense 2:61348456-61348456 - CSCC-27-T COSM4508082 c.7651C>T p.P2551S Substitution - Missense 2:61223158-61223158 - PTC_72 COSM5959676 c.3955C>A p.R1319R Substitution - coding silent 2:61301124-61301124 - TCGA-AA-3715-01 COSM270529 c.9832A>G p.N3278D Substitution - Missense 2:61190312-61190312 - PCSI_0476_Pa_P_526 COSM5031440 c.3405G>C p.E1135D Substitution - Missense 2:61314722-61314722 - sysucc-882T COSM5447503 c.6476C>T p.T2159M Substitution - Missense 2:61246396-61246396 - BD231T COSM1615011 c.553-7delT p.? Unknown 2:61395240-61395240 - TCGA-06-0221-02 COSM3407925 c.4688G>A p.G1563D Substitution - Missense 2:61288738-61288738 - TCGA-DU-5852-01 COSM3972296 c.6762G>A p.S2254S Substitution - coding silent 2:61241575-61241575 - ESCC_80 COSM5635777 c.10522A>G p.R3508G Substitution - Missense 2:61188221-61188221 - TCGA-F4-6570-01 COSM1408850 c.9820T>C p.S3274P Substitution - Missense 2:61190324-61190324 - ICGC_0054 COSM1159301 c.6824T>G p.F2275C Substitution - Missense 2:61236343-61236343 - BD114T COSM5502478 c.6535A>G p.K2179E Substitution - Missense 2:61246337-61246337 - Pat_53_B COSM5862680 c.2265_2267delCCA p.H760delH Deletion - In frame 2:61347888-61347890 - PD5932a COSM5802451 c.2046_2058del13 p.P683fs*23 Deletion - Frameshift 2:61348097-61348109 - sysucc-1370T COSM5471597 c.10246C>T p.R3416* Substitution - Nonsense 2:61188497-61188497 - TCGA-HF-7132-01 COSM3054349 c.8450G>A p.R2817H Substitution - Missense 2:61214292-61214292 - TCGA-18-3416-01 COSM722153 c.6357A>T p.T2119T Substitution - coding silent 2:61248548-61248548 - 234 COSM3730650 c.1378-3delT p.? Unknown 2:61350392-61350392 - SC_9008 COSM3730650 c.1378-3delT p.? Unknown 2:61350392-61350392 - TCGA-EE-A2MU-06 COSM3582490 c.8077C>T p.P2693S Substitution - Missense 2:61214665-61214665 - PD24325a COSM5781273 c.560C>G p.S187* Substitution - Nonsense 2:61395226-61395226 - TCGA-BS-A0UF-01 COSM1022087 c.3742T>G p.L1248V Substitution - Missense 2:61311615-61311615 - I2L-P23-Tumor-Organoid COSM5354425 c.2471C>T p.A824V Substitution - Missense 2:61343844-61343844 - TCGA-CG-4305-01 COSM4095053 c.2262C>T p.H754H Substitution - coding silent 2:61347893-61347893 - TCGA-B5-A0JY-01 COSM1022082 c.5516C>A p.S1839Y Substitution - Missense 2:61266085-61266085 - TCGA-BR-4184-01 COSM4095035 c.10066C>T p.R3356C Substitution - Missense 2:61188677-61188677 - TCGA-LL-A5YP-01 COSM4391520 c.8577G>A p.R2859R Substitution - coding silent 2:61214165-61214165 - 1N59-VS-1T59 COSM4977583 c.2768T>G p.L923R Substitution - Missense 2:61333948-61333948 - TCGA-D3-A51J-06 COSM3582491 c.7720T>G p.C2574G Substitution - Missense 2:61223089-61223089 - SNUH_G26_S1 COSM4001720 c.1467A>G p.A489A Substitution - coding silent 2:61350300-61350300 - TCGA-AX-A0J0-01 COSM1022072 c.7145A>C p.Q2382P Substitution - Missense 2:61229602-61229602 - PD3890a COSM219164 c.9308G>C p.G3103A Substitution - Missense 2:61204332-61204332 - HF-23896 COSM1193012 c.1378-3_1378-2insT p.? Unknown 2:61350391-61350392 - HCT8 COSM3054296 c.10617C>T p.G3539G Substitution - coding silent 2:61188126-61188126 - ACINAR27 COSM1735043 c.4688G>C p.G1563A Substitution - Missense 2:61288738-61288738 - DLD1 COSM1668964 c.8702A>G p.N2901S Substitution - Missense 2:61211910-61211910 - TCGA-A6-6781-01 COSM1408851 c.9683delT p.L3228fs*1 Deletion - Frameshift 2:61190564-61190564 - CCK81 COSM3054464 c.2634A>G p.G878G Substitution - coding silent 2:61339461-61339461 - 587228 COSM1232035 c.1207C>T p.R403* Substitution - Nonsense 2:61370365-61370365 - RKO COSM3054506 c.375_376insA p.S126fs*8 Insertion - Frameshift 2:61405884-61405885 - EGC15 COSM5058983 c.8800C>T p.R2934C Substitution - Missense 2:61211812-61211812 - TCGA-BR-6452-01 COSM4095044 c.6237A>G p.K2079K Substitution - coding silent 2:61248668-61248668 - TCGA-CC-A3MB-01 COSM4933612 c.2429C>A p.A810E Substitution - Missense 2:61343886-61343886 - Case6b COSM1717529 c.3626T>C p.L1209P Substitution - Missense 2:61311827-61311827 - TCGA-BS-A0UV-01 COSM1022060 c.9661C>A p.L3221I Substitution - Missense 2:61190586-61190586 - LC_S6 COSM1190715 c.6655delA p.K2219fs*40 Deletion - Frameshift 2:61241792-61241792 - DLD1 COSM4624839 c.4998G>T p.E1666D Substitution - Missense 2:61283145-61283145 - CHC2103T COSM4952613 c.2693A>T p.Q898L Substitution - Missense 2:61339402-61339402 - ESCC_62 COSM5633101 c.32T>G p.V11G Substitution - Missense 2:61470661-61470661 - TCGA-AP-A054-01 COSM1022059 c.10067G>A p.R3356H Substitution - Missense 2:61188676-61188676 - CSCC-35-T COSM4533794 c.2015G>A p.G672E Substitution - Missense 2:61348140-61348140 - CHC1028T COSM4790825 c.10422T>A p.S3474S Substitution - coding silent 2:61188321-61188321 - TCGA-BR-8589-01 COSM4095049 c.5036A>C p.K1679T Substitution - Missense 2:61281205-61281205 - TCGA-CA-6718-01 COSM1408860 c.6752T>G p.F2251C Substitution - Missense 2:61241585-61241585 - B71 COSM1757054 c.3948G>C p.R1316S Substitution - Missense 2:61301131-61301131 - TCGA-CA-6717-01 COSM1022096 c.2871C>A p.F957L Substitution - Missense 2:61331335-61331335 - TCGA-09-2050-01 COSM73231 c.5456A>T p.N1819I Substitution - Missense 2:61266145-61266145 - CSCC-41-T COSM4545543 c.3805G>A p.G1269R Substitution - Missense 2:61311552-61311552 - TCGA-BS-A0UF-01 COSM1022053 c.10599C>A p.V3533V Substitution - coding silent 2:61188144-61188144 - TCGA-B0-4841-01 COSM3364782 c.2349A>G p.A783A Substitution - coding silent 2:61343966-61343966 - ATL065 COSM5708276 c.4998+2T>C p.? Unknown 2:61283143-61283143 - TCGA-D1-A17Q-01 COSM1022104 c.1090G>T p.E364* Substitution - Nonsense 2:61370566-61370566 - CACO2 COSM3054408 c.5619C>G p.S1873S Substitution - coding silent 2:61265556-61265556 - TCGA-56-6545-01 COSM722162 c.9823G>C p.D3275H Substitution - Missense 2:61190321-61190321 - TCGA-G2-A3VY-01 COSM3799097 c.9037C>G p.Q3013E Substitution - Missense 2:61206769-61206769 - ACINAR09 COSM1735049 c.490delA p.I164fs*31 Deletion - Frameshift 2:61405770-61405770 - TCGA-AP-A0LM-01 COSM221647 c.7045C>T p.R2349C Substitution - Missense 2:61232520-61232520 - TCGA-BR-4201-01 COSM4095048 c.5078G>A p.R1693H Substitution - Missense 2:61281163-61281163 - PD4094a COSM165443 c.3664G>C p.D1222H Substitution - Missense 2:61311789-61311789 - TCGA-B5-A11E-01 COSM1022065 c.9120C>T p.S3040S Substitution - coding silent 2:61206051-61206051 - TCGA-IR-A3LA-01 COSM4845399 c.4488G>C p.Q1496H Substitution - Missense 2:61293524-61293524 - CSCC-52-T COSM4491655 c.3848C>T p.S1283L Substitution - Missense 2:61301424-61301424 - 8015423 COSM1158783 c.3182A>G p.K1061R Substitution - Missense 2:61317754-61317754 - 99797 COSM95466 c.3493G>C p.E1165Q Substitution - Missense 2:61314634-61314634 - T3301 COSM4739775 c.7753G>A p.V2585I Substitution - Missense 2:61222660-61222660 - TCGA-AG-A002-01 COSM264608 c.8349C>T p.F2783F Substitution - coding silent 2:61214393-61214393 - TCGA-BR-8487-01 COSM4095051 c.4378-1G>T p.? Unknown 2:61295033-61295033 - CHC2052T COSM4789914 c.2420A>G p.N807S Substitution - Missense 2:61343895-61343895 - T2269 COSM4739772 c.10558T>G p.L3520V Substitution - Missense 2:61188185-61188185 - T3021 COSM4739784 c.3347C>T p.A1116V Substitution - Missense 2:61314910-61314910 - Au2 COSM5600831 c.1927C>T p.R643W Substitution - Missense 2:61348228-61348228 - 587234 COSM1232043 c.632G>A p.R211H Substitution - Missense 2:61394974-61394974 - TCGA-B5-A0JY-01 COSM1022094 c.3025G>T p.E1009* Substitution - Nonsense 2:61319316-61319316 - TCGA-EK-A2PL-01 COSM4838432 c.1891C>G p.H631D Substitution - Missense 2:61348264-61348264 - TCGA-B5-A11E-01 COSM1022100 c.2129A>C p.N710T Substitution - Missense 2:61348026-61348026 - TCGA-EI-6882-01 COSM3054460 c.2814C>T p.Y938Y Substitution - coding silent 2:61333902-61333902 - TCGA-AX-A1C7-01 COSM1022061 c.9640G>A p.A3214T Substitution - Missense 2:61190607-61190607 - 254 COSM3731682 c.8348delT p.F2783fs*10 Deletion - Frameshift 2:61214394-61214394 - TCGA-39-5031-01 COSM722145 c.2876A>G p.D959G Substitution - Missense 2:61331330-61331330 - TCGA-AX-A0J1-01 COSM1022092 c.3374A>G p.Y1125C Substitution - Missense 2:61314883-61314883 - D01 COSM5544351 c.1313C>T p.P438L Substitution - Missense 2:61350632-61350632 - CPCG0001-F1 COSM3396488 c.9057A>T p.Q3019H Substitution - Missense 2:61206114-61206114 - J10_T COSM3962966 c.1517A>G p.E506G Substitution - Missense 2:61349276-61349276 - Pat_26_B COSM5862681 c.1070C>G p.T357R Substitution - Missense 2:61378369-61378369 - CPCG0410-F1 COSM4881110 c.848A>G p.E283G Substitution - Missense 2:61380335-61380335 - BD57T COSM1641942 c.7033-6delT p.? Unknown 2:61232538-61232538 - CRC-8 COSM304480 c.9846T>G p.I3282M Substitution - Missense 2:61190298-61190298 - CRC-19T COSM3054432 c.3956G>A p.R1319Q Substitution - Missense 2:61301123-61301123 - I2L-P7-Tumor-Organoid COSM5354623 c.10300C>T p.H3434Y Substitution - Missense 2:61188443-61188443 - TCGA-BS-A0UF-01 COSM1022058 c.10090A>G p.T3364A Substitution - Missense 2:61188653-61188653 - HCC126 COSM3659913 c.7282A>G p.M2428V Substitution - Missense 2:61228913-61228913 - TCGA-BR-A4QL-01 COSM4095052 c.2960G>A p.R987H Substitution - Missense 2:61325428-61325428 - 0085_CRUK_PC_0085_T1_DNA COSM5421327 c.7723C>T p.R2575* Substitution - Nonsense 2:61223086-61223086 - PD4086a COSM219395 c.5265C>G p.L1755L Substitution - coding silent 2:61278435-61278435 - TCGA-24-1431-01 COSM73230 c.8848A>G p.R2950G Substitution - Missense 2:61208970-61208970 - TCGA-BR-4184-01 COSM4095055 c.2068C>T p.R690* Substitution - Nonsense 2:61348087-61348087 - OSCC-GB_00050111 COSM3714219 c.4593G>T p.Q1531H Substitution - Missense 2:61288833-61288833 - TCGA-AG-A002-01 COSM264609 c.7586G>A p.R2529Q Substitution - Missense 2:61227076-61227076 - TCGA-G9-6342-01 COSM3673713 c.4214C>A p.P1405H Substitution - Missense 2:61296840-61296840 - TCGA-AP-A05N-01 COSM1022057 c.10141A>G p.T3381A Substitution - Missense 2:61188602-61188602 - 226 COSM4425874 c.383C>G p.S128C Substitution - Missense 2:61405877-61405877 - 107734 COSM95465 c.4201C>A p.L1401I Substitution - Missense 2:61296853-61296853 - ME001T COSM221647 c.7045C>T p.R2349C Substitution - Missense 2:61232520-61232520 - DLD1 COSM1668968 c.5488C>T p.R1830* Substitution - Nonsense 2:61266113-61266113 - TCGA-BR-6452-01 COSM4095059 c.911T>A p.L304* Substitution - Nonsense 2:61380272-61380272 - CHC2029T COSM5348648 c.5330_5331insT p.Q1778fs*4 Insertion - Frameshift 2:61278267-61278268 - Pat_26_A COSM5862681 c.1070C>G p.T357R Substitution - Missense 2:61378369-61378369 - TCGA-AB-2826-03 COSM1318888 c.7954C>T p.R2652* Substitution - Nonsense 2:61220403-61220403 - TCGA-C8-A26Y-01 COSM3839763 c.7263G>A p.V2421V Substitution - coding silent 2:61228932-61228932 - TCGA-EE-A2GR-06 COSM3582500 c.1219C>T p.Q407* Substitution - Nonsense 2:61370353-61370353 - TCGA-D8-A1XQ-01 COSM3839760 c.9385-2A>G p.? Unknown 2:61203265-61203265 - CSCC-46-T COSM4533728 c.2009G>A p.G670E Substitution - Missense 2:61348146-61348146 - TCGA-D1-A16R-01 COSM1022056 c.10161C>A p.D3387E Substitution - Missense 2:61188582-61188582 - TCGA-AP-A056-01 COSM1022076 c.6104T>C p.V2035A Substitution - Missense 2:61256895-61256895 - cSCCP1 COSM134026 c.2698C>T p.R900* Substitution - Nonsense 2:61339397-61339397 - TCGA-A3-3365-01 COSM1494959 c.3114T>A p.S1038R Substitution - Missense 2:61319227-61319227 - 587376 COSM1232041 c.552+1G>A p.? Unknown 2:61405707-61405707 - TCGA-04-1338-01 COSM82440 c.1752G>T p.G584G Substitution - coding silent 2:61348403-61348403 - ESCC_149 COSM5644837 c.7010A>G p.N2337S Substitution - Missense 2:61235867-61235867 - HCC107T COSM1615011 c.553-7delT p.? Unknown 2:61395240-61395240 - KPOPBR-03-T COSM3054451 c.3110G>A p.R1037Q Substitution - Missense 2:61319231-61319231 - SNUH_G76_S1 COSM3758296 c.6711A>G p.K2237K Substitution - coding silent 2:61241626-61241626 - TCGA-B5-A11E-01 COSM1022062 c.9593C>T p.A3198V Substitution - Missense 2:61190654-61190654 - S02376 COSM5697073 c.10066C>A p.R3356S Substitution - Missense 2:61188677-61188677 - OSCC-GB_01210111 COSM5954984 c.10489G>A p.E3497K Substitution - Missense 2:61188254-61188254 - BD173T COSM5505731 c.7708A>G p.I2570V Substitution - Missense 2:61223101-61223101 - HCC2998 COSM3054460 c.2814C>T p.Y938Y Substitution - coding silent 2:61333902-61333902 - T3064 COSM4739780 c.4477G>T p.G1493W Substitution - Missense 2:61293535-61293535 - TCGA-85-6561-01 COSM722147 c.3921G>T p.M1307I Substitution - Missense 2:61301158-61301158 - ODG3 COSM5731524 c.8222_8223delAT p.Y2741fs*2 Deletion - Frameshift 2:61214519-61214520 - LUAD-5V8LT COSM401959 c.765G>T p.W255C Substitution - Missense 2:61383325-61383325 - DLD1 COSM3054296 c.10617C>T p.G3539G Substitution - coding silent 2:61188126-61188126 - KM12 COSM1668965 c.8134C>T p.R2712C Substitution - Missense 2:61214608-61214608 - TCGA-DK-A3IS-01 COSM1306915 c.1757G>C p.S586T Substitution - Missense 2:61348398-61348398 - TCGA-13-0883-01 COSM73233 c.846G>C p.Q282H Substitution - Missense 2:61380337-61380337 - TCGA-AG-A002-01 COSM264612 c.3570A>C p.Q1190H Substitution - Missense 2:61311883-61311883 - RKO COSM3054432 c.3956G>A p.R1319Q Substitution - Missense 2:61301123-61301123 - T1154 COSM4739776 c.7325A>G p.Y2442C Substitution - Missense 2:61228870-61228870 - TCGA-BQ-7061-01 COSM3991383 c.7735C>G p.R2579G Substitution - Missense 2:61223074-61223074 - RK029_C01 COSM1632069 c.9524A>G p.Y3175C Substitution - Missense 2:61192965-61192965 - S27_pre COSM5575077 c.2558A>G p.D853G Substitution - Missense 2:61339624-61339624 - sysucc-1317T COSM5449734 c.9472A>G p.N3158D Substitution - Missense 2:61203176-61203176 - PD4086a COSM219395 c.5265C>G p.L1755L Substitution - coding silent 2:61278435-61278435 - TCGA-AD-6964-01 COSM96266 c.2394A>T p.G798G Substitution - coding silent 2:61343921-61343921 - SH-0622 COSM5017771 c.3854delG p.G1285fs*4 Deletion - Frameshift 2:61301418-61301418 - P06-3676 COSM248247 c.5831T>C p.F1944S Substitution - Missense 2:61259724-61259724 - TCGA-D1-A176-01 COSM1022067 c.8422G>T p.V2808F Substitution - Missense 2:61214320-61214320 - 5T COSM107844 c.7481A>G p.E2494G Substitution - Missense 2:61227181-61227181 - TCGA-EI-6510-01 COSM373811 c.1377+1G>A p.? Unknown 2:61350567-61350567 - Sample_1 COSM5021195 c.7369-6_7369-3delGTTT p.? Unknown 2:61228722-61228725 - TCGA-AA-3673-01 COSM267883 c.4289A>G p.K1430R Substitution - Missense 2:61295256-61295256 - LUAD-CHTN-MAD06-00668 COSM359445 c.4129-2A>G p.? Unknown 2:61296927-61296927 - TCGA-BJ-A45J-01 COSM3372833 c.8814C>T p.G2938G Substitution - coding silent 2:61211798-61211798 - TCGA-FD-A3SN-01 COSM3799096 c.9317G>A p.S3106N Substitution - Missense 2:61204323-61204323 - TCGA-HU-A4H5-01 COSM4095045 c.6187T>G p.S2063A Substitution - Missense 2:61256418-61256418 - TCGA-F5-6814-01 COSM264611 c.5309G>A p.R1770Q Substitution - Missense 2:61278391-61278391 - TCGA-61-1914-01 COSM1327020 c.238C>T p.Q80* Substitution - Nonsense 2:61406022-61406022 - TCGA-AX-A05Z-01 COSM1022099 c.2174G>A p.R725Q Substitution - Missense 2:61347981-61347981 - TCGA-AD-6895-01 COSM1408871 c.2224C>T p.R742* Substitution - Nonsense 2:61347931-61347931 - T3267 COSM4739783 c.3352A>C p.I1118L Substitution - Missense 2:61314905-61314905 - TCGA-AP-A059-01 COSM1022071 c.7389G>A p.L2463L Substitution - coding silent 2:61228699-61228699 - 66 COSM5742857 c.5558A>G p.K1853R Substitution - Missense 2:61266043-61266043 - T578 COSM4739781 c.4395T>G p.L1465L Substitution - coding silent 2:61295015-61295015 - 2492710 COSM5717019 c.5876C>T p.P1959L Substitution - Missense 2:61257319-61257319 - TCGA-AP-A056-01 COSM1022079 c.5801A>C p.K1934T Substitution - Missense 2:61259754-61259754 - TARGET-30-PATESI COSM1288851 c.952G>C p.A318P Substitution - Missense 2:61380231-61380231 - TCGA-DA-A1HV-06 COSM3582497 c.3979C>T p.P1327S Substitution - Missense 2:61301100-61301100 - T3174 COSM4739787 c.1740T>C p.G580G Substitution - coding silent 2:61348415-61348415 - TCGA-37-4141-01 COSM722138 c.1009A>T p.I337L Substitution - Missense 2:61380174-61380174 - LIM2551 COSM4644457 c.7468G>A p.E2490K Substitution - Missense 2:61227194-61227194 - TCGA-CJ-4644-01 COSM1136713 c.9984A>G p.Q3328Q Substitution - coding silent 2:61188959-61188959 - TCGA-AA-3663-01 COSM1408862 c.5702C>A p.A1901D Substitution - Missense 2:61265473-61265473 - CSCC-15-T COSM4509500 c.8091C>T p.F2697F Substitution - coding silent 2:61214651-61214651 - 2492709 COSM5717019 c.5876C>T p.P1959L Substitution - Missense 2:61257319-61257319 - ESCC-243T COSM3939125 c.8463G>A p.Q2821Q Substitution - coding silent 2:61214279-61214279 - QC2-32-T2 COSM5653847 c.1910G>A p.S637N Substitution - Missense 2:61348245-61348245 - QC2-18-T2 COSM5652595 c.426T>C p.S142S Substitution - coding silent 2:61405834-61405834 - T3724 COSM4739778 c.4547T>A p.V1516E Substitution - Missense 2:61293465-61293465 - TCGA-33-4532-01 COSM722161 c.9816A>T p.L3272L Substitution - coding silent 2:61190328-61190328 - RMS112_ COSM4987797 c.1811G>C p.S604T Substitution - Missense 2:61348344-61348344 - C608 COSM4442889 c.9437A>G p.H3146R Substitution - Missense 2:61203211-61203211 - TCGA-A3-3316-01 COSM1494957 c.345T>A p.S115R Substitution - Missense 2:61405915-61405915 - SNUH_G07_S1 COSM3682665 c.7188A>G p.G2396G Substitution - coding silent 2:61229559-61229559 - TCGA-D8-A1XY-01 COSM1483177 c.9888C>G p.L3296L Substitution - coding silent 2:61189055-61189055 - TCGA-EW-A1J5-01 COSM1483182 c.688G>C p.E230Q Substitution - Missense 2:61394918-61394918 - 296-04-3TD COSM5416436 c.517A>T p.T173S Substitution - Missense 2:61405743-61405743 - C135 COSM1408881 c.375delA p.K125fs*10 Deletion - Frameshift 2:61405885-61405885 - TCGA-BT-A42C-01 COSM4390454 c.563C>T p.T188I Substitution - Missense 2:61395223-61395223 - TCGA-EE-A2GI-06 COSM3582486 c.10146A>G p.P3382P Substitution - coding silent 2:61188597-61188597 - sysucc-1247T COSM5764572 c.3593G>A p.S1198N Substitution - Missense 2:61311860-61311860 - TCGA-D8-A1JA-01 COSM3839765 c.6348G>A p.T2116T Substitution - coding silent 2:61248557-61248557 - HCC2998 COSM1668966 c.7970A>G p.H2657R Substitution - Missense 2:61220387-61220387 - RK223_C01 COSM4779172 c.6966+3A>T p.? Unknown 2:61236023-61236023 - TCGA-HU-A4G8-01 COSM1022074 c.6712C>T p.R2238C Substitution - Missense 2:61241625-61241625 - LUAD-CHTN-MAD06-00668 COSM359444 c.4873G>C p.V1625L Substitution - Missense 2:61283409-61283409 - tumor_4191799 COSM3357601 c.2744+8G>T p.? Unknown 2:61339343-61339343 - TCGA-CM-6171-01 COSM1408858 c.8005G>A p.E2669K Substitution - Missense 2:61220352-61220352 - WA31 COSM238409 c.2493T>C p.L831L Substitution - coding silent 2:61343822-61343822 - ESO-081 COSM1243727 c.1983G>A p.M661I Substitution - Missense 2:61348172-61348172 - C0017T COSM3054503 c.449G>A p.S150N Substitution - Missense 2:61405811-61405811 - Pat_40_A COSM5862677 c.7962delA p.K2654fs*27 Deletion - Frameshift 2:61220395-61220395 - LS180 COSM3054358 c.8177A>T p.Q2726L Substitution - Missense 2:61214565-61214565 - T1844 COSM219500 c.7955G>A p.R2652Q Substitution - Missense 2:61220402-61220402 - TCGA-CG-5726-01 COSM4095043 c.6245G>A p.R2082H Substitution - Missense 2:61248660-61248660 - TCGA-GV-A3QI-01 COSM1306913 c.10005G>A p.E3335E Substitution - coding silent 2:61188938-61188938 - RKO COSM4648604 c.4337C>T p.A1446V Substitution - Missense 2:61295208-61295208 - TCGA-AM-5821-01 COSM3758296 c.6711A>G p.K2237K Substitution - coding silent 2:61241626-61241626 - TCGA-66-2791-01 COSM722164 c.10449G>C p.L3483F Substitution - Missense 2:61188294-61188294 - TCGA-39-5022-01 COSM722158 c.8302G>C p.E2768Q Substitution - Missense 2:61214440-61214440 - HCC2998 COSM1668963 c.9405T>G p.D3135E Substitution - Missense 2:61203243-61203243 - HCT-15 COSM1668964 c.8702A>G p.N2901S Substitution - Missense 2:61211910-61211910 - BD124T COSM3730650 c.1378-3delT p.? Unknown 2:61350392-61350392 - NPC29F COSM4491655 c.3848C>T p.S1283L Substitution - Missense 2:61301424-61301424 - TCGA-FW-A3R5-06 COSM3910476 c.4993C>T p.P1665S Substitution - Missense 2:61283150-61283150 - TCGA-D1-A103-01 COSM1022064 c.9333G>A p.P3111P Substitution - coding silent 2:61204307-61204307 - TCGA-AR-A256-01 COSM1483180 c.4745C>T p.T1582I Substitution - Missense 2:61288681-61288681 - T55 COSM4739786 c.1792G>A p.A598T Substitution - Missense 2:61348363-61348363 - PD7299a COSM1638147 c.8998A>G p.I3000V Substitution - Missense 2:61206808-61206808 - TCGA-DW-7840-01 COSM3991385 c.5502G>A p.K1834K Substitution - coding silent 2:61266099-61266099 - LUAD-VUMN6 COSM348022 c.7073T>G p.M2358R Substitution - Missense 2:61232492-61232492 - RK029_C COSM1632069 c.9524A>G p.Y3175C Substitution - Missense 2:61192965-61192965 - PD3989a COSM1668963 c.9405T>G p.D3135E Substitution - Missense 2:61203243-61203243 - TCGA-FW-A3R5-06 COSM3910475 c.5122C>T p.P1708S Substitution - Missense 2:61281119-61281119 - BN49 COSM1615010 c.5257-8G>T p.? Unknown 2:61278451-61278451 - 587228 COSM1232034 c.2869T>A p.F957I Substitution - Missense 2:61331337-61331337 - LP6005409-DNA_E01 COSM5033288 c.1015-5C>T p.? Unknown 2:61378429-61378429 - TCGA-AX-A05Z-01 COSM1022074 c.6712C>T p.R2238C Substitution - Missense 2:61241625-61241625 - TCGA-18-3414-01 COSM722156 c.7054G>C p.D2352H Substitution - Missense 2:61232511-61232511 - Gp2D COSM3054389 c.6516A>G p.I2172M Substitution - Missense 2:61246356-61246356 - BD124T COSM1641942 c.7033-6delT p.? Unknown 2:61232538-61232538 - 1N45-VS-1T45 COSM1757051 c.9166G>A p.E3056K Substitution - Missense 2:61204590-61204590 - TCGA-D1-A17Q-01 COSM1022085 c.4612G>A p.D1538N Substitution - Missense 2:61288814-61288814 - TCGA-AD-6895-01 COSM1408859 c.7673G>A p.R2558H Substitution - Missense 2:61223136-61223136 - LUAD-F00162 COSM366307 c.9506T>G p.L3169R Substitution - Missense 2:61203142-61203142 - STC248 COSM5058985 c.1466C>T p.A489V Substitution - Missense 2:61350301-61350301 - T3090 COSM4739785 c.2363delA p.N788fs*16 Deletion - Frameshift 2:61343952-61343952 - TCGA-56-6545-01 COSM722148 c.4172C>G p.S1391C Substitution - Missense 2:61296882-61296882 - 0113_CRUK_PC_0113_T1_DNA COSM5422385 c.3283-9C>G p.? Unknown 2:61314983-61314983 - LUAD-CHTN-MAD06-00668 COSM359443 c.5785G>A p.E1929K Substitution - Missense 2:61259770-61259770 - TCGA-EE-A29V-06 COSM3582495 c.5484G>A p.K1828K Substitution - coding silent 2:61266117-61266117 - LUAD-S01357 COSM387028 c.3790C>G p.Q1264E Substitution - Missense 2:61311567-61311567 - 2492701 COSM5600831 c.1927C>T p.R643W Substitution - Missense 2:61348228-61348228 - ICGC_0019 COSM1158783 c.3182A>G p.K1061R Substitution - Missense 2:61317754-61317754 - 31-RS COSM1731977 c.4118A>G p.D1373G Substitution - Missense 2:61300961-61300961 - PD3945a COSM5784880 c.10028C>T p.T3343I Substitution - Missense 2:61188915-61188915 - TCGA-AP-A056-01 COSM722144 c.2764C>T p.R922C Substitution - Missense 2:61333952-61333952 - TCGA-B7-5816-01 COSM4095058 c.970T>C p.S324P Substitution - Missense 2:61380213-61380213 - pfg018T COSM1641943 c.753+7A>G p.? Unknown 2:61394846-61394846 - LUAD-D02185 COSM338727 c.6127-2A>G p.? Unknown 2:61256480-61256480 - PTC-7C COSM4133880 c.1115A>G p.N372S Substitution - Missense 2:61370541-61370541 - TCGA-EE-A2GD-06 COSM3582494 c.5983C>T p.P1995S Substitution - Missense 2:61257212-61257212 - TCGA-CG-4306-01 COSM4095037 c.9009G>A p.S3003S Substitution - coding silent 2:61206797-61206797 - TCGA-25-1313-01 COSM73232 c.3814C>T p.P1272S Substitution - Missense 2:61311543-61311543 - B22 COSM1757055 c.3399G>A p.E1133E Substitution - coding silent 2:61314728-61314728 - TCGA-BR-6802-01 COSM4095036 c.9396C>T p.D3132D Substitution - coding silent 2:61203252-61203252 - ESCC_BICR_010T COSM5436002 c.406G>T p.E136* Substitution - Nonsense 2:61405854-61405854 - LUAD-NYU1177 COSM369514 c.4911T>C p.A1637A Substitution - coding silent 2:61283232-61283232 - pfg122T COSM4756264 c.6170A>G p.D2057G Substitution - Missense 2:61256435-61256435 - SC_9097 COSM5572461 c.692A>G p.Y231C Substitution - Missense 2:61394914-61394914 - YUKAT COSM5397202 c.4536A>G p.E1512E Substitution - coding silent 2:61293476-61293476 - CHC736T COSM4950380 c.2521delC p.Q841fs*26 Deletion - Frameshift 2:61339661-61339661 - TCGA-B5-A11E-01 COSM1022086 c.3955C>T p.R1319W Substitution - Missense 2:61301124-61301124 - J36_T COSM3962965 c.4117G>A p.D1373N Substitution - Missense 2:61300962-61300962 - TCGA-EK-A3GM-01 COSM4823395 c.8908C>A p.L2970I Substitution - Missense 2:61208910-61208910 - TCGA-66-2773-01 COSM722151 c.4790G>A p.R1597Q Substitution - Missense 2:61284917-61284917 - HCC151 COSM3659914 c.6670T>A p.S2224T Substitution - Missense 2:61241777-61241777 - HCC2998 COSM3054393 c.6309G>T p.V2103V Substitution - coding silent 2:61248596-61248596 - C086 COSM5541485 c.1489C>T p.P497S Substitution - Missense 2:61350278-61350278 - TCGA-G3-A7M5-01 COSM4941986 c.4491A>G p.L1497L Substitution - coding silent 2:61293521-61293521 - 24T COSM106756 c.10022G>A p.R3341K Substitution - Missense 2:61188921-61188921 - N579T COSM236037 c.654_655insA p.N220fs*11 Insertion - Frameshift 2:61394951-61394952 - SW48 COSM3054309 c.9982C>T p.Q3328* Substitution - Nonsense 2:61188961-61188961 - TCGA-B0-4824-01 COSM3364782 c.2349A>G p.A783A Substitution - coding silent 2:61343966-61343966 - TCGA-E2-A1B4-01 COSM443076 c.5641T>C p.Y1881H Substitution - Missense 2:61265534-61265534 - TCGA-A8-A06X-01 COSM443079 c.3980C>A p.P1327Q Substitution - Missense 2:61301099-61301099 - TCGA-BR-8680-01 COSM4095038 c.8717T>G p.F2906C Substitution - Missense 2:61211895-61211895 - CSCC-55-T COSM4548429 c.4475G>A p.G1492E Substitution - Missense 2:61293537-61293537 - L03 COSM193409 c.5528C>T p.A1843V Substitution - Missense 2:61266073-61266073 - 12T COSM107160 c.2770C>T p.L924F Substitution - Missense 2:61333946-61333946 - ESCC-059T COSM3939123 c.10604C>T p.T3535I Substitution - Missense 2:61188139-61188139 - LOVO COSM3054317 c.9833A>G p.N3278S Substitution - Missense 2:61190311-61190311 - TCGA-HU-A4GN-01 COSM4095039 c.8710C>T p.Q2904* Substitution - Nonsense 2:61211902-61211902 - PD3854a COSM165442 c.1900C>A p.P634T Substitution - Missense 2:61348255-61348255 - TCGA-BS-A0UV-01 COSM1022101 c.2069G>A p.R690Q Substitution - Missense 2:61348086-61348086 - B105-0 COSM1757056 c.1626A>C p.Q542H Substitution - Missense 2:61348804-61348804 - Pat_44_B COSM5862676 c.8059C>T p.L2687F Substitution - Missense 2:61214683-61214683 - SC_9094 COSM4314549 c.2265C>T p.H755H Substitution - coding silent 2:61347890-61347890 - H2122 COSM1197216 c.3989G>T p.C1330F Substitution - Missense 2:61301090-61301090 - TCGA-D1-A17Q-01 COSM1022081 c.5663G>A p.R1888H Substitution - Missense 2:61265512-61265512 - Pat_58_B COSM5862680 c.2265_2267delCCA p.H760delH Deletion - In frame 2:61347888-61347890 - SMS-CTR COSM4583582 c.9928C>T p.P3310S Substitution - Missense 2:61189015-61189015 - CCRF-CEM COSM1668969 c.2336C>G p.S779C Substitution - Missense 2:61343979-61343979 - TCGA-A5-A0VP-01 COSM1022080 c.5685C>T p.G1895G Substitution - coding silent 2:61265490-61265490 - RH30SJ_ COSM3054433 c.3817G>T p.G1273* Substitution - Nonsense 2:61311540-61311540 - TCGA-BS-A0UA-01 COSM1022081 c.5663G>A p.R1888H Substitution - Missense 2:61265512-61265512 - TCGA-G4-6309-01 COSM1232043 c.632G>A p.R211H Substitution - Missense 2:61394974-61394974 - TCGA-A5-A0GP-01 COSM1022070 c.7861C>T p.P2621S Substitution - Missense 2:61221540-61221540 - EKVX COSM1668967 c.5642A>G p.Y1881C Substitution - Missense 2:61265533-61265533 - B34-Tumor COSM1757053 c.4816G>C p.D1606H Substitution - Missense 2:61284891-61284891 - 100745 COSM95463 c.7832T>C p.M2611T Substitution - Missense 2:61221569-61221569 - TCGA-A8-A09A-01 COSM443075 c.5645G>A p.W1882* Substitution - Nonsense 2:61265530-61265530 - TCGA-AG-A002-01 COSM264610 c.6626C>T p.T2209M Substitution - Missense 2:61245211-61245211 - PT23_2 COSM3054475 c.1901C>T p.P634L Substitution - Missense 2:61348254-61348254 - PD4086a COSM219395 c.5265C>G p.L1755L Substitution - coding silent 2:61278435-61278435 - LUAD-S00499 COSM385340 c.2132C>T p.A711V Substitution - Missense 2:61348023-61348023 - TCGA-AG-A002-01 COSM264607 c.10599C>T p.V3533V Substitution - coding silent 2:61188144-61188144 - PD4116a COSM219500 c.7955G>A p.R2652Q Substitution - Missense 2:61220402-61220402 - 2492729 COSM5726901 c.10314G>A p.Q3438Q Substitution - coding silent 2:61188429-61188429 - TCGA-AZ-4615-01 COSM5139718 c.7485_7487delAGA p.E2499delE Deletion - In frame 2:61227175-61227177 - TCGA-F1-A448-01 COSM1022099 c.2174G>A p.R725Q Substitution - Missense 2:61347981-61347981 - LN18 COSM3054327 c.9370G>T p.V3124L Substitution - Missense 2:61204270-61204270 - TCGA-F5-6814-01 COSM3426575 c.9639C>T p.F3213F Substitution - coding silent 2:61190608-61190608 - BCM543T COSM4955390 c.3334G>T p.D1112Y Substitution - Missense 2:61314923-61314923 - TCGA-BH-A0H7-01 COSM443073 c.9709A>G p.M3237V Substitution - Missense 2:61190538-61190538 - HCT15 COSM1668964 c.8702A>G p.N2901S Substitution - Missense 2:61211910-61211910 - cSCCP8 COSM140417 c.6890C>T p.P2297L Substitution - Missense 2:61236189-61236189 - S00932 COSM316411 c.2756T>A p.I919N Substitution - Missense 2:61333960-61333960 - PT46 COSM5928438 c.5366G>T p.G1789V Substitution - Missense 2:61278232-61278232 - PD13606a COSM5770400 c.105T>G p.F35L Substitution - Missense 2:61420772-61420772 - 418 COSM1742400 c.4508C>G p.S1503C Substitution - Missense 2:61293504-61293504 - 3N34-VS-3T34 COSM4980975 c.6221G>T p.R2074M Substitution - Missense 2:61256384-61256384 - CHEWS027 COSM3054392 c.6327C>T p.F2109F Substitution - coding silent 2:61248578-61248578 - COLO201 COSM3054441 c.3603A>T p.K1201N Substitution - Missense 2:61311850-61311850 - TCGA-AA-A00N-01 COSM193416 c.3109C>T p.R1037* Substitution - Nonsense 2:61319232-61319232 - 10-P083 COSM3054424 c.4760T>C p.V1587A Substitution - Missense 2:61284947-61284947 - TCGA-AP-A059-01 COSM1022089 c.3479G>T p.S1160I Substitution - Missense 2:61314648-61314648 - TCGA-BS-A0UF-01 COSM1022095 c.2915G>A p.R972K Substitution - Missense 2:61331291-61331291 - 8061176 COSM3391805 c.931G>C p.D311H Substitution - Missense 2:61380252-61380252 - PR-2661 COSM248248 c.8572C>T p.L2858L Substitution - coding silent 2:61214170-61214170 - WA16 COSM242200 c.4376C>T p.T1459M Substitution - Missense 2:61295169-61295169 - PT14_1 COSM5896677 c.2042C>T p.S681L Substitution - Missense 2:61348113-61348113 - T24 COSM3758296 c.6711A>G p.K2237K Substitution - coding silent 2:61241626-61241626 - 585260 COSM326837 c.7419C>A p.Y2473* Substitution - Nonsense 2:61228669-61228669 - TCGA-39-5028-01 COSM722155 c.6852G>T p.W2284C Substitution - Missense 2:61236227-61236227 - T3724 COSM4739782 c.4157A>G p.H1386R Substitution - Missense 2:61296897-61296897 - LUAD-NYU330 COSM373811 c.1377+1G>A p.? Unknown 2:61350567-61350567 - CSCC-11-T COSM4451231 c.1117A>G p.N373D Substitution - Missense 2:61370539-61370539 - U2940 COSM5622121 c.8437C>T p.P2813S Substitution - Missense 2:61214305-61214305 - LP6005334-DNA_D03 COSM5953107 c.869G>A p.R290H Substitution - Missense 2:61380314-61380314 - TCGA-66-2787-01 COSM722146 c.3133G>T p.G1045C Substitution - Missense 2:61319208-61319208 - HCT-15 COSM1668968 c.5488C>T p.R1830* Substitution - Nonsense 2:61266113-61266113 - L03 COSM5368609 c.5522G>T p.R1841I Substitution - Missense 2:61266079-61266079 - TCGA-D1-A15X-01 COSM1022091 c.3391G>T p.G1131C Substitution - Missense 2:61314736-61314736 - TCGA-EE-A29D-06 COSM3582501 c.820A>G p.R274G Substitution - Missense 2:61383270-61383270 - TCGA-AP-A0LE-01 COSM1022069 c.7984C>T p.Q2662* Substitution - Nonsense 2:61220373-61220373 - TCGA-E2-A14R-01 COSM443077 c.5313-1G>T p.? Unknown 2:61278286-61278286 - ZZUFHECRKL-G026T COSM5435711 c.605A>T p.D202V Substitution - Missense 2:61395001-61395001 - TCGA-51-4079-01 COSM722136 c.367G>A p.E123K Substitution - Missense 2:61405893-61405893 - HCC2998 COSM3054388 c.6531T>G p.A2177A Substitution - coding silent 2:61246341-61246341 - 6P2-2 COSM3734431 c.656A>C p.K219T Substitution - Missense 2:61394950-61394950 - SA228 COSM214076 c.9295A>G p.I3099V Substitution - Missense 2:61204345-61204345 - HCC80 COSM3659915 c.1954G>A p.G652S Substitution - Missense 2:61348201-61348201 - TCGA-EJ-5498-01 COSM1130753 c.10390G>T p.E3464* Substitution - Nonsense 2:61188353-61188353 - TCGA-AK-3465-01 COSM1494958 c.2670A>T p.L890F Substitution - Missense 2:61339425-61339425 - BD223T COSM5496444 c.6290C>T p.T2097M Substitution - Missense 2:61248615-61248615 - 578 COSM3724113 c.10541T>C p.M3514T Substitution - Missense 2:61188202-61188202 - TCGA-60-2707-01 COSM722141 c.1526G>C p.R509T Substitution - Missense 2:61349267-61349267 - TCGA-BP-4807-01 COSM3364779 c.9842A>G p.E3281G Substitution - Missense 2:61190302-61190302 - SJRHB011 COSM4776261 c.885A>T p.L295F Substitution - Missense 2:61380298-61380298 - TCGA-D8-A27G-01 COSM3839773 c.286G>A p.D96N Substitution - Missense 2:61405974-61405974 - B37-Tumor COSM1757051 c.9166G>A p.E3056K Substitution - Missense 2:61204590-61204590 - TCGA-D8-A1XK-01 COSM3839770 c.1886A>G p.H629R Substitution - Missense 2:61348269-61348269 - TCGA-AN-A0FJ-01 COSM443081 c.609A>G p.V203V Substitution - coding silent 2:61394997-61394997 - 0057_CRUK_PC_0057_T1_DNA COSM5422694 c.4880A>G p.H1627R Substitution - Missense 2:61283263-61283263 - TCGA-04-1338-01 COSM78756 c.8772C>G p.F2924L Substitution - Missense 2:61211840-61211840 - TCGA-A6-6780-01 COSM1408881 c.375delA p.K125fs*10 Deletion - Frameshift 2:61405885-61405885 - 2367454 COSM5004182 c.6767_6768delAG p.E2256fs*8 Deletion - Frameshift 2:61241569-61241570 - PD9845a COSM5779637 c.2780T>C p.L927P Substitution - Missense 2:61333936-61333936 - PD4875a COSM5785009 c.5056G>A p.D1686N Substitution - Missense 2:61281185-61281185 - KM12 COSM1668965 c.8134C>T p.R2712C Substitution - Missense 2:61214608-61214608 - TCGA-AP-A056-01 COSM1022077 c.5970C>T p.I1990I Substitution - coding silent 2:61257225-61257225 - LS174T COSM3054358 c.8177A>T p.Q2726L Substitution - Missense 2:61214565-61214565 - TCGA-EB-A44Q-06 COSM3582488 c.9448C>G p.H3150D Substitution - Missense 2:61203200-61203200 - PD3945a COSM5801765 c.10032delA p.D3345fs*21 Deletion - Frameshift 2:61188911-61188911 - TCGA-60-2720-01 COSM722142 c.1879G>A p.D627N Substitution - Missense 2:61348276-61348276 - 3N62-VS-3T62 COSM4984449 c.3707A>G p.D1236G Substitution - Missense 2:61311650-61311650 - B37-Tumor COSM1757052 c.8908C>T p.L2970L Substitution - coding silent 2:61208910-61208910 - BD114T COSM5502479 c.841G>A p.D281N Substitution - Missense 2:61380342-61380342 - CSCC-41-T COSM4482419 c.2602C>T p.Q868* Substitution - Nonsense 2:61339580-61339580 - CSCC-5-T COSM4573180 c.1940_1941TA>AT p.L647Y Substitution - Missense 2:61348214-61348215 - PDA_019 COSM4998966 c.8135G>A p.R2712H Substitution - Missense 2:61214607-61214607 - pfg008T COSM1641944 c.376_377insA p.S126fs*8 Insertion - Frameshift 2:61405883-61405884 - RKO COSM3054452 c.3089A>G p.H1030R Substitution - Missense 2:61319252-61319252 - 66 COSM1022074 c.6712C>T p.R2238C Substitution - Missense 2:61241625-61241625 - PTC-7C COSM4133881 c.1114A>T p.N372Y Substitution - Missense 2:61370542-61370542 - TCGA-BR-7703-01 COSM4095056 c.1581C>T p.S527S Substitution - coding silent 2:61348849-61348849 - I2L-P7-Tumor-Organoid COSM5353929 c.2870delT p.F957fs*12 Deletion - Frameshift 2:61331336-61331336 - 8066491 COSM3770722 c.2501-1G>T p.? Unknown 2:61339682-61339682 - CDGLIV0707A0251_T COSM5040999 c.2893A>G p.I965V Substitution - Missense 2:61331313-61331313 - TCGA-ED-A82E-01 COSM4941462 c.7967C>T p.A2656V Substitution - Missense 2:61220390-61220390 - 587230 COSM1232042 c.7804C>A p.P2602T Substitution - Missense 2:61221597-61221597 - TCGA-AG-A002-01 COSM193416 c.3109C>T p.R1037* Substitution - Nonsense 2:61319232-61319232 - U2940 COSM5622120 c.8596C>T p.P2866S Substitution - Missense 2:61214146-61214146 - 5T COSM3714219 c.4593G>T p.Q1531H Substitution - Missense 2:61288833-61288833 - RK162_C01 COSM3743854 c.6127-6A>G p.? Unknown 2:61256484-61256484 - TCGA-BS-A0UV-01 COSM1022083 c.4974G>T p.K1658N Substitution - Missense 2:61283169-61283169 - T3225 COSM3839765 c.6348G>A p.T2116T Substitution - coding silent 2:61248557-61248557 - Case6a COSM1717529 c.3626T>C p.L1209P Substitution - Missense 2:61311827-61311827 - TCGA-D1-A17H-01 COSM1022066 c.8881_8883delCTT p.L2961delL Deletion - In frame 2:61208935-61208937 - YUFERY COSM5397201 c.10577_10578CC>TT p.T3526I Substitution - Missense 2:61188165-61188166 - TCGA-D8-A1XK-01 COSM3839762 c.7275A>G p.L2425L Substitution - coding silent 2:61228920-61228920 - C0021T COSM4164556 c.5186C>G p.P1729R Substitution - Missense 2:61280314-61280314 - 587376 COSM1232038 c.9004C>A p.L3002I Substitution - Missense 2:61206802-61206802 - TCGA-AX-A0J1-01 COSM1022063 c.9353G>A p.C3118Y Substitution - Missense 2:61204287-61204287 - TCGA-BG-A0MI-01 COSM1022093 c.3241C>G p.R1081G Substitution - Missense 2:61317695-61317695 - HCC17 COSM3659916 c.1075A>T p.T359S Substitution - Missense 2:61378364-61378364 - B34 COSM1757053 c.4816G>C p.D1606H Substitution - Missense 2:61284891-61284891 - TCGA-BS-A0UV-01 COSM1022090 c.3432G>A p.E1144E Substitution - coding silent 2:61314695-61314695 - S00022 COSM316410 c.1572T>A p.S524R Substitution - Missense 2:61348858-61348858 - S00022 COSM316410 c.1572T>A p.S524R Substitution - Missense 2:61348858-61348858 - SC_9038 COSM722144 c.2764C>T p.R922C Substitution - Missense 2:61333952-61333952 - LU-1991 COSM5615111 c.55G>C p.E19Q Substitution - Missense 2:61420822-61420822 - TCGA-AK-3430-01 COSM477546 c.44-1G>C p.? Unknown 2:61420834-61420834 - 93 COSM5014229 c.670C>G p.L224V Substitution - Missense 2:61394936-61394936 - 587376 COSM1232040 c.3182A>C p.K1061T Substitution - Missense 2:61317754-61317754 - H1703 COSM1196534 c.2141T>C p.I714T Substitution - Missense 2:61348014-61348014 - U87 COSM3054366 c.7742C>G p.A2581G Substitution - Missense 2:61223067-61223067 - SNUH_G37_S1 COSM3682664 c.8011T>G p.F2671V Substitution - Missense 2:61220346-61220346 - TCGA-EK-A2RK-01 COSM4829075 c.5569G>A p.E1857K Substitution - Missense 2:61266032-61266032 - 46M COSM5589324 c.8440G>A p.E2814K Substitution - Missense 2:61214302-61214302 - 451 COSM4435770 c.505T>C p.F169L Substitution - Missense 2:61405755-61405755 - TCGA-AC-A23H-01 COSM3839769 c.4603G>C p.D1535H Substitution - Missense 2:61288823-61288823 - TCGA-FU-A3NI-01 COSM4849174 c.2765G>A p.R922H Substitution - Missense 2:61333951-61333951 - TCGA-AG-A002-01 COSM264611 c.5309G>A p.R1770Q Substitution - Missense 2:61278391-61278391 - PTC-7C COSM4133879 c.1116C>G p.N372K Substitution - Missense 2:61370540-61370540 - S27_post COSM5575077 c.2558A>G p.D853G Substitution - Missense 2:61339624-61339624 - 2492702 COSM5600831 c.1927C>T p.R643W Substitution - Missense 2:61348228-61348228 - SNUH_G10_S1 COSM4001720 c.1467A>G p.A489A Substitution - coding silent 2:61350300-61350300 - PD3890a COSM219164 c.9308G>C p.G3103A Substitution - Missense 2:61204332-61204332 - 12820 COSM5617140 c.10266G>A p.S3422S Substitution - coding silent 2:61188477-61188477 - TCGA-AC-A23H-01 COSM3839768 c.4633G>A p.D1545N Substitution - Missense 2:61288793-61288793 - HCC17T COSM3659916 c.1075A>T p.T359S Substitution - Missense 2:61378364-61378364 - ESCC_3 COSM5622581 c.3224A>G p.H1075R Substitution - Missense 2:61317712-61317712 - B37 COSM1757051 c.9166G>A p.E3056K Substitution - Missense 2:61204590-61204590 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.644641;Hs.644642;Hs.644643;Hs.644644;Hs.644649;Hs.644654;Hs.644656;Hs.644657;Hs.644669;Hs.644671;Hs.644676;Hs.644677;Hs.644678;Hs.644679;Hs.644680;Hs.644684;Hs.644686;Hs.644687;Hs.644690;Hs.644693;Hs.644697;Hs.644699;Hs.644701;Hs.644706;Hs.644708 2p15 603356;188230 2421307|CGAP|BC011522|G/T|non-coding||2396|Validated; 2421322|CGAP|BC011522|A/C|non-coding||821|Validated; 1532929|dbSNP|BC065559|C/G|non-coding||625|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAG - InFrameDeletion p.L2961delL c.8881_8883delCTT 2 61436070 UCEC A C IntronicSNV . c.5778+18T>G 2 61492514 CM A C Missense p.D2500E c.7500T>G 2 61454297 RCCC A C Missense p.F2275C c.6824T>G 2 61463478 PAAD A C Missense p.S1283A c.3847T>G 2 61528560 CM A C Missense p.S577R c.1731T>G 2 61575559 CM A C Synonymous p.P2479P c.7437T>G 2 61455786 HC - A Frameshift p.C1530Lfs*16 c.4588dupT 2 61515973 HNSC A G IntronicSNV . c.1076+55T>C 2 61605443 CLL A G IntronicSNV . c.1508-118T>C 2 61576538 CLL A G IntronicSNV . c.553-46T>C 2 61622414 NSCLC A G Missense p.F729L c.2185T>C 2 61575105 BRCA A G Missense p.M3514T c.10541T>C 2 61415337 HNSC A G Missense p.S324P c.970T>C 2 61607348 STAD A G Missense p.S3277P c.9829T>C 2 61417450 THCA A G Missense p.Y1881H c.5641T>C 2 61492669 BRCA A G Synonymous p.H840H c.2520T>C 2 61566797 RCCC A G Synonymous p.I826I c.2478T>C 2 61570972 HNSC A G Synonymous p.L1200L c.3598T>C 2 61538990 UCEC A G Synonymous p.N2094N c.6282T>C 2 61475758 OV A G Synonymous p.N373N c.1119T>C 2 61597672 HNSC A - IntronicDeletion . c.7033-6delT 2 61459673 STAD A T Missense p.I919N c.2756T>A 2 61561095 SCLC A T Missense p.S524R c.1572T>A 2 61575993 SCLC A T Synonymous p.A2793A c.8379T>A 2 61441498 CM C A Missense p.A414S c.1240G>T 2 61597467 LUSC C A Missense p.D199Y c.595G>T 2 61622326 BLCA C A Missense p.G1045C c.3133G>T 2 61546343 LUSC C A Missense p.M1307I c.3921G>T 2 61528293 LUSC C A Missense p.Q1969H c.5907G>T 2 61484423 COREAD C A Missense p.R1772M c.5315G>T 2 61505418 LUAD C A Missense p.S1485I c.4454G>T 2 61522091 LUSC C A Missense p.V2808F c.8422G>T 2 61441455 UCEC C A Missense p.W2284C c.6852G>T 2 61463362 LUSC C A Nonsense p.E2917* c.8749G>T 2 61438998 ESCA C A SpliceAcceptorSNV . c.5313-1G>T 2 61505421 BRCA C A Synonymous p.G584G c.1752G>T 2 61575538 OV C A Synonymous p.L2902L c.8706G>T 2 61439041 LUSC C G Missense p.A318P c.952G>C 2 61607366 NB C G Missense p.D1222H c.3664G>C 2 61538924 BRCA C G Missense p.D1649H c.4945G>C 2 61510333 LUSC C G Missense p.D1689H c.5065G>C 2 61508311 BRCA C G Missense p.D2352H c.7054G>C 2 61459646 LUSC C G Missense p.D3275H c.9823G>C 2 61417456 LUSC C G Missense p.D356H c.1066G>C 2 61605508 LUAD C G Missense p.E19Q c.55G>C 2 61647957 NSCLC C G Missense p.E2768Q c.8302G>C 2 61441575 LUSC C G Missense p.E3449Q c.10345G>C 2 61415533 BLCA C G Missense p.L3483F c.10449G>C 2 61415429 LUSC C G Missense p.L863F c.2589G>C 2 61566728 LUAD C G Missense p.Q1811H c.5433G>C 2 61505300 LUAD C G Missense p.Q282H c.846G>C 2 61607472 OV C G Missense p.R1393P c.4178G>C 2 61524011 CM C G Missense p.R509T c.1526G>C 2 61576402 LUSC C G Missense p.S586T c.1757G>C 2 61575533 BLCA C G Synonymous p.L3477L c.10431G>C 2 61415447 CM C - IntronicDeletion . c.5618-28delG 2 61492720 STAD CTCT - Frameshift p.R109Sfs*13 c.327_330delAGAG 2 61633065 LUAD C T IntronicSNV . c.131+3486G>A 2 61644395 CM C T Missense p.A3214T c.9640G>A 2 61417742 UCEC C T Missense p.D199N c.595G>A 2 61622326 LUSC C T Missense p.D2149N c.6445G>A 2 61473562 COREAD C T Missense p.D627N c.1879G>A 2 61575411 LUSC C T Missense p.E123K c.367G>A 2 61633028 LUSC C T Missense p.E2491K c.7471G>A 2 61454326 CM C T Missense p.G1563D c.4688G>A 2 61515873 GBM C T Missense p.G1591E c.4772G>A 2 61512070 CM C T Missense p.G2967R c.8899G>A 2 61436054 COREAD C T Missense p.M200I c.600G>A 2 61622321 BRCA C T Missense p.R1597Q c.4790G>A 2 61512052 LUSC C T Missense p.R1693H c.5078G>A 2 61508298 STAD C T Missense p.R2082H c.6245G>A 2 61475795 STAD C T Missense p.R2670Q c.8009G>A 2 61447483 HNSC C T Missense p.R3356H c.10067G>A 2 61415811 UCEC C T Missense p.V836I c.2506G>A 2 61566811 BLCA C T Nonsense p.W1882* c.5645G>A 2 61492665 BRCA C T Synonymous p.E3335E c.10005G>A 2 61416073 BLCA C T Synonymous p.K1828K c.5484G>A 2 61493252 CM C T Synonymous p.L404L c.1212G>A 2 61597495 HNSC C T Synonymous p.S2254S c.6762G>A 2 61468710 LGG C T Synonymous p.S3003S c.9009G>A 2 61433932 STAD C T Synonymous p.S3422S c.10266G>A 2 61415612 NSCLC C T Synonymous p.V2369V c.7107G>A 2 61459593 LUSC G A IntronicSNV . c.3817+73C>T 2 61538602 NSCLC G A IntronicSNV . c.5433+5552C>T 2 61499748 PIA G A Missense p.L1237F c.3709C>T 2 61538783 CM G A Missense p.P1272S c.3814C>T 2 61538678 OV G A Missense p.P1327S c.3979C>T 2 61528235 CM G A Missense p.P1995S c.5983C>T 2 61484347 CM G A Missense p.P2621S c.7861C>T 2 61448675 UCEC G A Missense p.P2693S c.8077C>T 2 61441800 CM G A Missense p.P3044L c.9131C>T 2 61433175 CM G A Missense p.P634S c.1900C>T 2 61575390 CM G A Missense p.R1888C c.5662C>T 2 61492648 CM G A Missense p.R2349C c.7045C>T 2 61459655 CM G A Missense p.R2817C c.8449C>T 2 61441428 STAD G A Missense p.R3356C c.10066C>T 2 61415812 STAD G A Missense p.S1469L c.4406C>T 2 61522139 RCCC G A Missense p.S1565L c.4694C>T 2 61515867 CM G A Missense p.S1807L c.5420C>T 2 61505313 CM G A Missense p.T1582I c.4745C>T 2 61515816 BRCA G A Nonsense p.Q2662* c.7984C>T 2 61447508 UCEC G A Nonsense p.Q407* c.1219C>T 2 61597488 CM G A Nonsense p.R2579* c.7735C>T 2 61450209 CM G A Nonsense p.R2652* c.7954C>T 2 61447538 AML G A Nonsense p.R285* c.853C>T 2 61607465 BLCA G A Synonymous p.A1843A c.5529C>T 2 61493207 STAD G A Synonymous p.C654C c.1962C>T 2 61575328 RCCC G A Synonymous p.D3132D c.9396C>T 2 61430387 STAD G A Synonymous p.G1895G c.5685C>T 2 61492625 UCEC G A Synonymous p.H754H c.2262C>T 2 61575028 STAD G A Synonymous p.I2169I c.6507C>T 2 61473500 BRCA G A Synonymous p.L2234L c.6700C>T 2 61468772 BRCA G A Synonymous p.L2724L c.8170C>T 2 61441707 RCCC G A Synonymous p.L447L c.1339C>T 2 61577741 LUAD G A Synonymous p.L816L c.2448C>T 2 61571002 CM G A Synonymous p.S1433S c.4299C>T 2 61522381 OV G C Missense p.C2W c.6C>G 2 61697822 ESCA G C Missense p.F2924L c.8772C>G 2 61438975 OV G C Missense p.I723M c.2169C>G 2 61575121 LUAD G C Missense p.L1237V c.3709C>G 2 61538783 LUAD G C Missense p.L134V c.400C>G 2 61632995 LUAD G C Missense p.P1508A c.4522C>G 2 61520625 BRCA G C Missense p.R1081G c.3241C>G 2 61544830 UCEC G C Missense p.S128C c.383C>G 2 61633012 MM G C Missense p.S1391C c.4172C>G 2 61524017 LUSC G C Missense p.S2063C c.6188C>G 2 61483552 HNSC G C Missense p.S2301C c.6902C>G 2 61463312 CM G C Synonymous p.L1275L c.3825C>G 2 61528582 CM G C Synonymous p.L3296L c.9888C>G 2 61416190 BRCA G T Missense p.D2540E c.7620C>A 2 61450407 RCCC G T Missense p.H2838N c.8512C>A 2 61441365 LUSC G T Missense p.L240I c.718C>A 2 61622023 BRCA G T Missense p.P1327Q c.3980C>A 2 61528234 BRCA G T Missense p.P2823Q c.8468C>A 2 61441409 STAD G T Missense p.P634T c.1900C>A 2 61575390 BRCA G T Missense p.T2406N c.7217C>A 2 61456113 COREAD G T Nonsense p.Y2473* c.7419C>A 2 61455804 SCLC G T Synonymous p.R2652R c.7954C>A 2 61447538 LUAD T A IntronicSNV . c.2500+60A>T 2 61570890 NSCLC T A Missense p.D1520V c.4559A>T 2 61516002 CLL T A Missense p.E1991D c.5973A>T 2 61484357 LUAD T A Missense p.E2789V c.8366A>T 2 61441511 LUAD T A Missense p.I337L c.1009A>T 2 61607309 LUSC T A Missense p.K3413I c.10238A>T 2 61415640 CM T A Missense p.N1819I c.5456A>T 2 61493280 OV T A Missense p.N2965I c.8894A>T 2 61436059 CM T A Missense p.N3309I c.9926A>T 2 61416152 CM T A Missense p.T3350S c.10048A>T 2 61415830 HNSC T A Synonymous p.L3272L c.9816A>T 2 61417463 LUSC T A Synonymous p.T2119T c.6357A>T 2 61475683 LUSC T C IntronicSNV . c.132-2284A>G 2 61635547 CLL T C IntronicSNV . c.753+7A>G 2 61621981 STAD T C IntronicSNV . c.9873+376A>G 2 61417030 HC T C Missense p.D959G c.2876A>G 2 61558465 LUSC T C Missense p.E3281G c.9842A>G 2 61417437 RCCC T C Missense p.H815R c.2444A>G 2 61571006 RCCC T C Missense p.H838R c.2513A>G 2 61566804 HNSC T C Missense p.I3099V c.9295A>G 2 61431480 BRCA T C Missense p.K1061R c.3182A>G 2 61544889 PAAD T C Missense p.K1430R c.4289A>G 2 61522391 COREAD T C Missense p.M3237V c.9709A>G 2 61417673 BRCA T C Missense p.N3107D c.9319A>G 2 61431456 RCCC T C Missense p.N3116S c.9347A>G 2 61431428 LUAD T C Missense p.N3309S c.9926A>G 2 61416152 STAD T C Missense p.N3409D c.10225A>G 2 61415653 CM T C Missense p.R2510G c.7528A>G 2 61454269 THCA T C Missense p.R2950G c.8848A>G 2 61436105 OV T C Missense p.S3127G c.9379A>G 2 61431396 HNSC T C Missense p.Y3175C c.9524A>G 2 61420100 HC T C Synonymous p.A783A c.2349A>G 2 61571101 RCCC T C Synonymous p.L3312L c.9936A>G 2 61416142 STAD T C Synonymous p.P3382P c.10146A>G 2 61415732 CM T C Synonymous p.T2278T c.6834A>G 2 61463468 LUSC T C Synonymous p.V203V c.609A>G 2 61622132 BRCA T C Synonymous p.V3302V c.9906A>G 2 61416172 STAD - T Frameshift p.S126Ifs*8 c.375dupA 2 61633021 STAD TGG - InFrameDeletion p.H760delH c.2265_2267delCCA 2 61575023 THCA T G Missense p.E3408A c.10223A>C 2 61415655 CM